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UniProt Knowledgebase
SIB Swiss Institute of Bioinformatics; Geneva, Switzerland
European Bioinformatics Institute (EBI); Hinxton, United Kingdom
Protein Information Resource (PIR); Washington DC, USA
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Description: Controlled vocabulary of human diseases
Name: humdisease.txt
Release: 2022_03 of 03-Aug-2022
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This document lists the controlled vocabulary that is used for the
annotation of human diseases in UniProtKB/Swiss-Prot.
It follows the format below:
--------- --------------------------- ------------------------------
Line code Content Occurrence in an entry
--------- --------------------------- ------------------------------
ID Identifier Once; starts an entry
AC Accession (DI-xxxxx) Once
AR Acronym Once
DE Definition Once or more
SY Alternative name(s) Optional; once or more
DR Cross-reference(s) Once or more
KW Associated keyword (accession) Optional; Once or more
// Terminator Once; ends an entry
Sources: OMIM, Scientific articles, Dorland's Medical Dictionary,
Orphanet.
___________________________________________________________________________
ID 2,4-dienoyl-CoA reductase deficiency.
AC DI-04240
AR DECRD.
DE A rare, autosomal recessive, inborn error of polyunsaturated fatty
DE acids and lysine metabolism, resulting in mitochondrial dysfunction.
DE Affected individuals have a severe encephalopathy with neurologic and
DE metabolic abnormalities beginning in early infancy. Laboratory studies
DE show increased C10:2 carnitine levels and hyperlysinemia.
DR MIM; 616034; phenotype.
DR MedGen; CN037048.
DR MeSH; D020167.
DR MeSH; D028361.
//
ID 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency.
AC DI-00002
AR HADH deficiency.
DE An autosomal recessive, metabolic disorder with various clinical
DE presentations including hypoglycemia, hepatoencephalopathy, myopathy
DE or cardiomyopathy, and in some cases sudden death.
SY HAD deficiency.
SY Hydroxyacyl-coenzyme A dehydrogenase deficiency.
SY SCHAD deficiency.
DR MIM; 231530; phenotype.
DR MedGen; C1291230.
DR MeSH; D008659.
//
ID 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
AC DI-00003
AR HMGCLD.
DE An autosomal recessive disease affecting ketogenesis and L-leucine
DE catabolism. The disease usually appears in the first year of life
DE after a fasting period and its clinical acute symptoms include
DE vomiting, seizures, metabolic acidosis, hypoketotic hypoglycemia and
DE lethargy. These symptoms sometimes progress to coma, with fatal
DE outcome in some cases.
SY HL deficiency.
SY HMGCL deficiency.
SY HMG-CoA lyase deficiency.
SY Hydroxymethylglutaricaciduria.
SY Hydroxymethylglutaric aciduria.
DR MIM; 246450; phenotype.
DR MedGen; C0268601.
DR MeSH; D000592.
//
ID 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency.
AC DI-01751
AR HMGCS2D.
DE A metabolic disorder characterized by severe hypoketotic hypoglycemia,
DE encephalopathy, and hepatomegaly.
SY HMG-CoA synthase deficiency.
SY HMGCS2 deficiency.
SY HMGCS deficiency.
SY Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency.
SY Mitochondrial HMG-CoA synthase deficiency.
DR MIM; 605911; phenotype.
DR MedGen; C2751532.
DR MeSH; D007003.
DR MeSH; D008661.
DR MeSH; D028361.
//
ID 3-hydroxyisobutryl-CoA hydrolase deficiency.
AC DI-01740
AR HIBCHD.
DE An autosomal recessive inborn error of valine metabolism. It causes
DE severely delayed psychomotor development, neurodegeneration, increased
DE lactic acid, and brain lesions in the basal ganglia.
SY Beta-hydroxyisobutyryl CoA deacylase deficiency.
SY Deficiency of beta-hydroxyisobutyryl CoA deacylase.
SY HIBCH deficiency.
SY Methacrylic acid toxicity.
SY Methacrylic aciduria.
SY Valine metabolic defect.
DR MIM; 250620; phenotype.
DR MedGen; C0342738.
DR MeSH; D000592.
//
ID 3-ketothiolase deficiency.
AC DI-00009
AR 3KTD.
DE An autosomal recessive inborn error of isoleucine catabolism
DE characterized by intermittent ketoacidotic attacks associated with
DE unconsciousness. Some patients die during an attack or are mentally
DE retarded. Urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-
DE methylacetoacetic acid, triglylglycine, butanone is increased. It
DE seems likely that the severity of this disease correlates better with
DE the environmental or acquired factors than with the ACAT1 genotype.
SY Alpha-methylacetoaceticaciduria.
DR MIM; 203750; phenotype.
DR MedGen; C1536500.
DR MeSH; D000592.
//
ID 3-methylcrotonoyl-CoA carboxylase 1 deficiency.
AC DI-00742
AR MCC1D.
DE An autosomal recessive disorder of leucine catabolism. The phenotype
DE is variable, ranging from neonatal onset with severe neurological
DE involvement to asymptomatic adults. There is a characteristic organic
DE aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-
DE methylcrotonylglycine, usually in combination with a severe secondary
DE carnitine deficiency.
SY 3-methylcrotonylglycinuria type I.
SY MCC1 deficiency.
SY MCCD type 1.
SY MCGI.
SY Methylcrotonylglycinuria type I.
DR MIM; 210200; phenotype.
DR MedGen; C0268600.
DR MedGen; CN028786.
DR MeSH; D000592.
//
ID 3-methylcrotonoyl-CoA carboxylase 2 deficiency.
AC DI-00743
AR MCC2D.
DE An autosomal recessive disorder of leucine catabolism. The phenotype
DE is variable, ranging from neonatal onset with severe neurological
DE involvement to asymptomatic adults. There is a characteristic organic
DE aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-
DE methylcrotonylglycine, usually in combination with a severe secondary
DE carnitine deficiency.
SY 3-methylcrotonylglycinuria type II.
SY MCC2 deficiency.
SY MCGII.
SY Methylcrotonylglycinuria type II.
DR MIM; 210210; phenotype.
DR MedGen; C1859499.
DR MeSH; D000592.
//
ID 3-methylglutaconic aciduria 1.
AC DI-00004
AR MGCA1.
DE An inborn error of leucine metabolism. It leads to an autosomal
DE recessive syndrome with variable clinical phenotype, ranging from
DE delayed speech development to severe psychomotor retardation, coma,
DE failure to thrive, metabolic acidosis and dystonia. MGCA1 can be
DE distinguished from other forms of MGCA by the pattern of metabolite
DE excretion: 3-methylglutaconic acid levels are higher than those
DE detected in other forms, whereas methylglutaric acid levels are
DE usually only slightly elevated and there is a high level of 3-
DE hydroxyisovaleric acid excretion (not present in other MGCA forms).
SY 3-alpha-methylglutaconic aciduria type 1.
SY 3-alpha-methylglutaconyl-CoA hydratase deficiency.
SY 3-methylglutaconyl-CoA hydratase deficiency.
SY 3MG-CoA hydratase deficiency.
SY MGA1.
SY MGA type I.
DR MIM; 250950; phenotype.
DR MedGen; C0342727.
DR MeSH; D000592.
//
ID 3-methylglutaconic aciduria 3.
AC DI-00006
AR MGCA3.
DE An autosomal recessive metabolic disorder that causes a neuro-
DE ophthalmologic syndrome consisting of early-onset bilateral optic
DE atrophy, spasticity, extrapyramidal dysfunction and cognitive deficit.
DE Urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid
DE is increased. MGCA3 can be distinguished from MGCA1 by the absence of
DE increase of 3-hydroxyisovaleric acid levels.
SY 3-alpha-methylglutaconic aciduria type 3.
SY Costeff optic atrophy syndrome.
SY Costeff syndrome.
SY MGA3.
SY MGA type III.
SY Optic atrophy 3 autosomal recessive.
SY Optic atrophy plus syndrome.
DR MIM; 258501; phenotype.
DR MedGen; C0574084.
DR MeSH; D015418.
//
ID 3-methylglutaconic aciduria 5.
AC DI-00007
AR MGCA5.
DE An autosomal recessive disorder characterized by early-onset dilated
DE cardiomyopathy, growth failure, cerebellar ataxia causing significant
DE motor delays, testicular dysgenesis, growth failure and significant
DE increases in urine organic acids, particularly 3-methylglutaconic acid
DE and 3-methylglutaric acid.
SY 3-alpha-methylglutaconic aciduria type 5.
SY DCMA.
SY Dilated cardiomyopathy with ataxia.
SY MGA5.
SY MGA type V.
DR MIM; 610198; phenotype.
DR MedGen; C1857776.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID 3-methylglutaconic aciduria 7.
AC DI-04365
AR MGCA7.
DE An autosomal recessive inborn error of metabolism with a highly
DE variable phenotype. Primary disease symptoms are increased levels of
DE 3-methylglutaconic acid, neurologic deterioration and neutropenia.
DE Other common features include progressive encephalopathy, movement
DE abnormalities, delayed psychomotor development, cataracts, seizures,
DE and recurrent infections.
SY 3-methylglutaconic aciduria, type VII.
SY 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia.
SY 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia.
SY MEGCANN.
DR MIM; 616271; phenotype.
DR MedGen; CN228597.
DR MeSH; D008661.
KW KW-0887:Epilepsy.
KW KW-0898:Cataract.
//
ID 3-methylglutaconic aciduria 8.
AC DI-04904
AR MGCA8.
DE An autosomal recessive inborn error of metabolism resulting in early
DE death. Clinical features include extreme hypertonia observed at birth,
DE alternating with hypotonia, subsequent appearance of extrapyramidal
DE symptoms, lack of psychomotor development, microcephaly, and
DE intractable seizures. Patients show lactic acidemia, 3-
DE methylglutaconic aciduria, intermittent neutropenia, and progressive
DE brain atrophy.
SY 3-methylglutaconic aciduria, type VII.
DR MIM; 617248; phenotype.
DR MedGen; CN239573.
DR MeSH; D008661.
KW KW-0887:Epilepsy.
//
ID 3-methylglutaconic aciduria 9.
AC DI-05109
AR MGCA9.
DE An autosomal recessive disease characterized by early-onset seizures,
DE severely delayed psychomotor development and intellectual disability.
DE Patients have hypotonia or spasticity, and laboratory investigations
DE show increased serum lactate and 3-methylglutaconic aciduria.
SY 3-methylglutaconic aciduria, type IX.
DR MIM; 617698; phenotype.
DR MedGen; CN510468.
DR MeSH; D008661.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome.
AC DI-03495
AR MEGDEL.
DE An autosomal recessive disorder characterized by childhood onset of
DE delayed psychomotor development or psychomotor regression,
DE sensorineural deafness, spasticity or dystonia, and increased
DE excretion of 3-methylglutaconic acid. Brain imaging shows cerebral and
DE cerebellar atrophy as well as lesions in the basal ganglia reminiscent
DE of Leigh syndrome. Laboratory studies show increased serum lactate and
DE alanine, mitochondrial oxidative phosphorylation defects, abnormal
DE mitochondria, abnormal phosphatidylglycerol and cardiolipin profiles
DE in fibroblasts, and abnormal accumulation of unesterified cholesterol
DE within cells.
SY 3-methylglutaconic aciduria, type VI.
SY 3-methylglutaconic aciduria with dystonia-deafness, hepatopathy, encephalopathy, and Leigh-like syndrome.
SY MEGDHEL.
SY MGCA6.
DR MIM; 614739; phenotype.
DR MedGen; C3553597.
DR MedGen; CN130585.
DR MeSH; D008661.
KW KW-0209:Deafness.
//
ID 3M syndrome 1.
AC DI-00011
AR 3M1.
DE An autosomal recessive disorder characterized by severe pre- and
DE postnatal growth retardation, facial dysmorphism, large head
DE circumference, and normal intelligence and endocrine function.
DE Skeletal changes include long slender tubular bones and tall vertebral
DE bodies.
SY 3M syndrome-1.
SY Dolichospondylic dysplasia.
SY Gloomy face syndrome.
SY Le Merrer syndrome.
SY Miller-McKusick-Malvaux syndrome.
SY Three M syndrome.
SY Three M syndrome 1.
SY Yakut short stature syndrome.
DR MIM; 273750; phenotype.
DR MedGen; C1848862.
DR MedGen; C2678312.
DR MeSH; D004392.
KW KW-0242:Dwarfism.
//
ID 3M syndrome 2.
AC DI-02472
AR 3M2.
DE An autosomal recessive disorder characterized by severe pre- and
DE postnatal growth retardation, facial dysmorphism, large head
DE circumference, and normal intelligence and endocrine function.
DE Skeletal changes include long slender tubular bones and tall vertebral
DE bodies.
SY 3M syndrome-2.
SY Three M syndrome 2.
DR MIM; 612921; phenotype.
DR MedGen; C2752041.
DR MeSH; D004392.
KW KW-0242:Dwarfism.
//
ID 3M syndrome 3.
AC DI-03220
AR 3M3.
DE A disorder characterized by poor postnatal growth and distinctive
DE facial features, including triangular facies, frontal bossing, fleshy
DE tipped nose, and fleshy lips. Other features may include skeletal
DE anomalies and prominent heels.
SY 3M syndrome-3.
SY Three M syndrome 3.
DR MIM; 614205; phenotype.
DR MedGen; C3280146.
DR MeSH; D004392.
KW KW-0242:Dwarfism.
//
ID 3MC syndrome 1.
AC DI-03129
AR 3MC1.
DE A form of 3MC syndrome, an autosomal recessive disorder characterized
DE by facial dysmorphism, craniosynostosis, learning disability, and
DE genital, limb and vesicorenal anomalies. Facial features include
DE hypertelorism, blepharophimosis, blepharoptosis and highly arched
DE eyebrows, cleft lip and/or palate. The term 3MC syndrome includes
DE Carnevale, Mingarelli, Malpuech, and Michels syndromes.
SY Craniosynostosis with lid anomalies.
SY Michels syndrome.
SY Oculopalatoskeletal syndrome.
DR MIM; 257920; phenotype.
DR MedGen; C0796059.
DR MeSH; D003398.
DR MeSH; D005141.
//
ID 3MC syndrome 2.
AC DI-03130
AR 3MC2.
DE A form of 3MC syndrome, an autosomal recessive disorder characterized
DE by facial dysmorphism, craniosynostosis, learning disability, and
DE genital, limb and vesicorenal anomalies. Facial features include
DE hypertelorism, blepharophimosis, blepharoptosis and highly arched
DE eyebrows, cleft lip and/or palate. The term 3MC syndrome includes
DE Carnevale, Mingarelli, Malpuech, and Michels syndromes.
SY Carnevale Krajewska Fischetto syndrome.
SY Carnevale syndrome.
SY Oculo-skeletal-abdominal syndrome.
SY OSA syndrome.
SY Ptosis of eyelids with diastasis recti and hip dysplasia.
DR MIM; 265050; phenotype.
DR MedGen; C0796279.
DR MeSH; D003398.
DR MeSH; D005141.
//
ID 3MC syndrome 3.
AC DI-04982
AR 3MC3.
DE A form of 3MC syndrome, an autosomal recessive disorder characterized
DE by facial dysmorphism, craniosynostosis, learning disability, and
DE genital, limb and vesicorenal anomalies. Facial features include
DE hypertelorism, blepharophimosis, blepharoptosis and highly arched
DE eyebrows, cleft lip and/or palate. The term 3MC syndrome includes
DE Carnevale, Mingarelli, Malpuech, and Michels syndromes.
SY Facial clefting syndrome Gypsy type.
SY Malpuech facial clefting syndrome.
SY Malpuech syndrome.
DR MIM; 248340; phenotype.
DR MedGen; C0796032.
DR MeSH; D003398.
DR MeSH; D005141.
//
ID 46,XX sex reversal 1.
AC DI-02395
AR SRXX1.
DE A condition in which male gonads develop in a genetic female (female
DE to male sex reversal).
SY 46,XX gonadal dysgenesis complete SRY-positive.
SY 46,XX sex reversal SRY-positive.
SY 46,XX testicular disorder of sex development.
SY 46,XX true hermaphroditism SRY-positive.
SY Ovotesticular disorder of sex development.
SY Ovotesticular DSD.
SY XX male SRY-positive.
DR MIM; 400045; phenotype.
DR MedGen; C2748895.
DR MedGen; C3495659.
DR MeSH; D023961.
DR MeSH; D050090.
//
ID 46,XX sex reversal 2.
AC DI-03053
AR SRXX2.
DE A condition in which male gonads develop in a genetic female (female
DE to male sex reversal).
SY 46,XX sex reversal partial or complete SOX9-related.
DR MIM; 278850; phenotype.
DR MedGen; C2749215.
DR MeSH; D058531.
//
ID 46,XX sex reversal 3.
AC DI-03008
AR SRXX3.
DE A condition in which male gonads develop in a genetic female (female
DE to male sex reversal).
SY 46,XX male sex reversal SOX3-related.
DR MIM; 300833; phenotype.
DR MedGen; C3151782.
DR MedGen; C3151783.
DR MeSH; D058531.
//
ID 46,XX sex reversal 4.
AC DI-05002
AR SRXX4.
DE A condition in which male gonads develop in a genetic female (female
DE to male sex reversal).
SY 46,XX sex reversal SRY-negative.
DR MIM; 617480; phenotype.
DR MedGen; CN244002.
DR MeSH; D058531.
//
ID 46,XX sex reversal 5.
AC DI-05853
AR SRXX5.
DE A condition in which male gonads develop in a genetic female (female
DE to male sex reversal). Additional features in SRXX5 patients are
DE congenital heart disease, congenital diaphragmatic hernia, and
DE blepharophimosis-ptosis-epicanthus inversus syndrome. SRXX5
DE inheritance is autosomal dominant.
DR MIM; 618901; phenotype.
DR MedGen; CN281159.
DR MeSH; D058531.
//
ID 46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs.
AC DI-01613
AR SERKAL.
DE A disease characterized by the association of female-to-male sex
DE reversal with dysgenesis of kidneys, adrenals, and lungs.
SY SERKAL syndrome.
DR MIM; 611812; phenotype.
DR MedGen; C2678492.
DR MeSH; D058531.
//
ID 46,XY gonadal dysgenesis with minifascicular neuropathy.
AC DI-02146
AR GDMN.
DE An autosomal recessive disorder characterized by gonadal dysgenesis
DE associated with polyneuropathy. Genital anomalies include the presence
DE of a testis on one side and a streak or an absent gonad at the other,
DE persistence of Muellerian duct structures, and a variable degree of
DE genital ambiguity.
DR MIM; 607080; phenotype.
DR MedGen; C2751325.
DR MeSH; D006061.
//
ID 46,XY sex reversal 1.
AC DI-01682
AR SRXY1.
DE A condition characterized by male-to-female sex reversal in the
DE presence of a normal 46,XY karyotype. Patients manifest rapid and
DE early degeneration of their gonads, which are present in the adult as
DE 'streak gonads', consisting mainly of fibrous tissue and variable
DE amounts of ovarian stroma. As a result these patients do not develop
DE secondary sexual characteristics at puberty. The external genitalia in
DE these subjects are completely female, and Muellerian structures are
DE normal.
SY 46,XY gonadal dysgenesis complete SRY-related.
SY 46,XY sex reversal SRY-related.
SY 46,XY true hermaphroditism SRY-related.
SY Gonadal dysgenesis XY female type.
SY Swyer syndrome.
SY XY females.
DR MIM; 400044; phenotype.
DR MedGen; C2748896.
DR MedGen; C2748897.
DR MedGen; C2748898.
DR MedGen; C2748899.
DR MeSH; D006061.
//
ID 46,XY sex reversal 10.
AC DI-04458
AR SRXY10.
DE A disorder of sex development. Affected individuals have a 46,XY
DE karyotype, show gonadal dysgenesis with streak gonads, look like
DE normal females at birth, do not develop secondary sexual
DE characteristics at puberty and do not menstruate.
SY Chromosome 17q24 deletion syndrome.
DR MIM; 616425; phenotype.
DR MedGen; CN231316.
DR MeSH; D006061.
//
ID 46,XY sex reversal 11.
AC DI-05803
AR SRXY11.
DE An autosomal dominant disorder of sex development. Affected
DE individuals have a 46,XY karyotype and a genital phenotype that may
DE range from predominantly female to predominantly male, including
DE marked sex ambiguity. Approximately half of patients present with
DE micropenis and bilateral or unilateral cryptorchidism, and half
DE present with female-appearing or ambiguous external genitalia.
SY Anorchia, familial.
SY Testicular regression, embryonic.
SY Testicular regression syndrome.
SY TRS.
SY XY gonadal agenesis/dysgenesis syndrome.
DR MIM; 273250; phenotype.
DR MedGen; C0266427.
DR MeSH; D006061.
//
ID 46,XY sex reversal 2.
AC DI-02751
AR SRXY2.
DE A condition characterized by male-to-female sex reversal in the
DE presence of a normal 46,XY karyotype.
SY 46,XY sex reversal DAX1-related.
SY Dosage-sensitive sex reversal.
SY DSS.
DR MIM; 300018; phenotype.
DR MedGen; C1848296.
DR MeSH; D058490.
//
ID 46,XY sex reversal 3.
AC DI-02465
AR SRXY3.
DE A condition characterized by male-to-female sex reversal in the
DE presence of a normal 46,XY karyotype.
SY 46,XY disorder of sex development.
SY 46,XY sex reversal partial or complete NR5A1-related.
SY Complete or partial 46,XY gonadal dysgenesis with or without adrenal failure.
SY XY sex reversal with or without adrenal failure.
DR MIM; 612965; phenotype.
DR MedGen; C2751824.
DR MeSH; D006061.
//
ID 46,XY sex reversal 4.
AC DI-03328
AR SRXY4.
DE A condition characterized by male-to-female sex reversal in the
DE presence of a normal 46,XY karyotype. Patients display complete or
DE partial gonadal dysgenesis and a chromosome 9p deletion.
SY 46,XY gonadal dysgenesis complete or partial with 9p24.3 deletion.
SY Chromosome 9p24.3 deletion syndrome.
DR MIM; 154230; phenotype.
DR MedGen; C2752149.
DR MeSH; D006061.
//
ID 46,XY sex reversal 5.
AC DI-02807
AR SRXY5.
DE A disorder of sex development. Affected individuals have a 46,XY
DE karyotype but present as phenotypically normal females.
SY 46,XY gonadal dysgenesis complete CBX2-related.
SY 46,XY sex reversal CBX2-related.
SY Disorder of sex development 46,XY CBX2-related.
SY Sex reversal XY CBX2-related.
DR MIM; 613080; phenotype.
DR MedGen; C2751317.
DR MeSH; D006061.
//
ID 46,XY sex reversal 6.
AC DI-03052
AR SRXY6.
DE A disorder of sex development. Affected individuals have a 46,XY
DE karyotype but present as phenotypically normal females.
SY 46,XY gonadal dysgenesis partial or complete MAP3K1-related.
SY 46,XY sex reversal partial or complete MAP3K1-related.
DR MIM; 613762; phenotype.
DR MedGen; C3151064.
DR MeSH; D006061.
//
ID 46,XY sex reversal 7.
AC DI-01379
AR SRXY7.
DE A disorder of sex development. Affected individuals have a 46,XY
DE karyotype but present as phenotypically normal females. SRXY7 patients
DE have no functional gonads.
SY 46,XY gonadal dysgenesis, partial or complete, DHH-related.
SY 46,XY sex reversal, partial or complete, DHH-related.
SY Complete pure gonadal dysgenesis 46,XY type.
SY GDXYM.
SY Male-limited gonadal dysgenesis 46,XY.
DR MIM; 233420; phenotype.
DR MedGen; C1856273.
DR MedGen; CN068862.
DR MeSH; D006061.
//
ID 46,XY sex reversal 8.
AC DI-03279
AR SRXY8.
DE A disorder of sex development. Affected individuals have a 46,XY
DE karyotype but present as phenotypically normal females.
SY Male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase.
SY TDD.
DR MIM; 614279; phenotype.
DR MedGen; C1839840.
DR MeSH; D006061.
//
ID 46,XY sex reversal 9.
AC DI-04251
AR SRXY9.
DE A disorder of sex development. Affected individuals have a 46,XY
DE karyotype but present as phenotypically normal females or have
DE ambiguous external genitalia.
SY 46,XY sex reversal, ZFPM2-related.
DR MIM; 616067; phenotype.
DR MedGen; CN220529.
DR MeSH; D006061.
//
ID 5-oxoprolinase deficiency.
AC DI-03412
AR OPLAHD.
DE A disorder characterized by calcium oxalate/carbonate urolithiasis,
DE and excessive urinary 5-oxo-L-proline. Affected individuals have
DE recurrent episodes of vomiting, diarrhea, and abdominal pain.
SY Oxoprolinuria due to oxoprolinase deficiency.
DR MIM; 260005; phenotype.
DR MedGen; C0268525.
DR MeSH; D000592.
//
ID Aaland island eye disease.
AC DI-01163
AR AIED.
DE A retinal disease characterized by a combination of fundus
DE hypopigmentation, decreased visual acuity due to foveal hypoplasia,
DE nystagmus, astigmatism, protan color vision defect, myopia, and
DE defective dark adaptation. Except for progression of axial myopia, the
DE disease can be considered to be a stationary condition.
DE Electroretinography reveals abnormalities in both photopic and
DE scotopic functions.
SY Aland island eye disease.
SY Forsius-Eriksson type ocular albinism.
DR MIM; 300600; phenotype.
DR MedGen; C0268505.
DR MeSH; D014786.
//
ID Aarskog-Scott syndrome.
AC DI-00012
AR AAS.
DE An X-linked recessive, rare multisystemic disorder characterized by
DE disproportionately short stature, and by facial, skeletal and
DE urogenital anomalies. Some patients manifest intellectual disability,
DE attention deficit disorder and hyperactivity.
SY Faciodigitogenital syndrome.
SY Faciogenital dysplasia.
SY Faciogenital dysplasia with attention deficit-hyperactivity disorder.
DR MIM; 305400; phenotype.
DR MedGen; C0175701.
DR MedGen; C1844569.
DR MedGen; C3275558.
DR MedGen; CN069557.
DR MeSH; D001289.
//
ID ABCD syndrome.
AC DI-00013
AR ABCDS.
DE An autosomal recessive syndrome characterized by albinism, black lock
DE at temporal occipital region, bilateral deafness, aganglionosis of the
DE large intestine and total absence of neurocytes and nerve fibers in
DE the small intestine.
SY Albinism, black lock, cell migration disorder of the neurocytes of the gut and deafness.
DR MIM; 600501; phenotype.
DR MedGen; C1838099.
DR MedGen; C3179507.
DR MeSH; D014849.
KW KW-0015:Albinism.
KW KW-0209:Deafness.
KW KW-0367:Hirschsprung disease.
//
ID Abdominal obesity-metabolic syndrome 3.
AC DI-04090
AR AOMS3.
DE A form of abdominal obesity-metabolic syndrome, a disorder
DE characterized by abdominal obesity, high triglycerides, low levels of
DE high density lipoprotein cholesterol, high blood pressure, and
DE elevated fasting glucose levels. AOMS3 is characterized by early-onset
DE coronary artery disease, central obesity, hypertension, and diabetes.
SY Central obesity, type 2 diabetes, hypertension, and early-onset coronary artery disease.
DR MIM; 615812; phenotype.
DR MedGen; CN188185.
DR MeSH; D024821.
KW KW-0219:Diabetes mellitus.
KW KW-0550:Obesity.
//
ID Abdominal obesity-metabolic syndrome 4.
AC DI-05676
AR AOMS4.
DE A form of abdominal obesity-metabolic syndrome, a disorder
DE characterized by abdominal obesity, high triglycerides, low levels of
DE high density lipoprotein cholesterol, high blood pressure, and
DE elevated fasting glucose levels. AOMS4 is an autosomal dominant
DE disease. Patients manifest obesity, hypertension, early-onset coronary
DE artery disease and type 2 diabetes.
DR MIM; 618620; phenotype.
DR MeSH; D024821.
KW KW-0219:Diabetes mellitus.
KW KW-0550:Obesity.
//
ID Abetalipoproteinemia.
AC DI-00014
AR ABL.
DE An autosomal recessive disorder of lipoprotein metabolism. Affected
DE individuals produce virtually no circulating apolipoprotein B-
DE containing lipoproteins (chylomicrons, VLDL, LDL, lipoprotein(A)).
DE Malabsorption of the antioxidant vitamin E occurs, leading to
DE spinocerebellar and retinal degeneration.
SY Acanthocytosis.
SY Bassen-Kornzweig syndrome.
SY Microsomal triglyceride transfer protein deficiency.
SY MTP deficiency.
DR MIM; 200100; phenotype.
DR MedGen; C0000744.
DR MeSH; D000012.
//
ID Ablepharon-macrostomia syndrome.
AC DI-04542
AR AMS.
DE A congenital ectodermal dysplasia characterized by absent eyelids,
DE macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose
DE and ears, variable abnormalities of the nipples, genitalia, fingers,
DE and hands, largely normal intellectual and motor development, and poor
DE growth.
DR MIM; 200110; phenotype.
DR MedGen; C1860224.
DR MeSH; D005124.
DR MeSH; D008265.
KW KW-0038:Ectodermal dysplasia.
//
ID Abnormal hair, joint laxity, and developmental delay.
AC DI-05602
AR HJDD.
DE An autosomal recessive disease characterized by abnormal hair,
DE cognitive delay, speech articulation disorder, and increased joint
DE mobility. At birth patients have normal hair that gradually becomes
DE sparse, twisted, brittle, and easily broken, with pili torti and
DE trichorrhexis nodosa.
SY Pili torti and developmental delay.
DR MIM; 261990; phenotype.
DR MedGen; C1849811.
DR MeSH; D002658.
DR MeSH; D006201.
//
ID Abruzzo-Erickson syndrome.
AC DI-03763
AR ABERS.
DE A disease characterized by cleft palate, coloboma, hypospadias,
DE deafness, short stature, and radial synostosis.
SY X-linked Charge-like syndrome.
DR MIM; 302905; phenotype.
DR MedGen; C1844862.
DR MeSH; D006314.
DR MeSH; D017880.
DR MeSH; D019767.
KW KW-0209:Deafness.
KW KW-0242:Dwarfism.
//
ID Acatalasemia.
AC DI-00016
AR ACATLAS.
DE A metabolic disorder characterized by a total or near total loss of
DE catalase activity in red cells. It is often associated with ulcerating
DE oral lesions. Acatalasemia is inherited as an autosomal recessive
DE trait.
SY Acatalasia.
SY Catalase deficiency.
SY Takahara's disease.
SY Takahara disease.
DR MIM; 614097; phenotype.
DR MedGen; C0268419.
DR MeSH; D020642.
//
ID Aceruloplasminemia.
AC DI-00017
AR ACERULOP.
DE An autosomal recessive disorder of iron metabolism characterized by
DE iron accumulation in the brain as well as visceral organs. Clinical
DE features consist of the triad of retinal degeneration, diabetes
DE mellitus and neurological disturbances.
DR MIM; 604290; phenotype.
DR MedGen; C0878682.
DR MedGen; C1858582.
DR MedGen; C1858583.
DR MeSH; D019189.
//
ID Acetyl-CoA carboxylase 1 deficiency.
AC DI-01164
AR ACACAD.
DE An inborn error of de novo fatty acid synthesis associated with severe
DE brain damage, persistent myopathy and poor growth.
SY ACACA deficiency.
SY ACAC deficiency.
SY ACC1 deficiency.
SY ACC deficiency.
DR MIM; 613933; phenotype.
DR MedGen; C0268603.
DR MeSH; D008052.
//
ID Achalasia-addisonianism-alacrima syndrome.
AC DI-00018
AR AAAS.
DE An autosomal recessive disorder characterized by adreno-corticotropic
DE hormone (ACTH)-resistant adrenal failure, achalasia of the esophageal
DE cardia and alacrima. The syndrome is associated with variable and
DE progressive neurological impairment involving the central, peripheral,
DE and autonomic nervous system. Other features such as palmoplantar
DE hyperkeratosis, short stature, facial dysmorphy and osteoporosis may
DE also be present.
SY ACTH-resistant adrenal insufficiency with achalasia and alacrima.
SY Addisonian-achalasia syndrome.
SY Alacrima-achalasia-addisonianism.
SY Alacrima-achalasia-adrenal insufficiency neurologic disorder.
SY Allgrove's syndrome.
SY Allgrove syndrome.
SY Glucocorticoid deficiency and achalasia.
SY Hypoadrenalism with achalasia.
SY Triple-A syndrome.
DR MIM; 231550; phenotype.
DR MedGen; C0271742.
DR MedGen; C1856419.
DR MedGen; C2931084.
DR MeSH; D000309.
//
ID Acheiropody.
AC DI-01165
AR ACHP.
DE Very rare condition characterized by bilateral congenital amputations
DE of the hands and feet. The specific malformative phenotype consists of
DE a complete amputation of the distal epiphysis of the humerus,
DE amputation of the tibial diaphysis and aplasia of the radius, ulna,
DE fibula and of all the bones of the hands and feet.
SY Acheiropodia.
SY Acheiropody Brazilian type.
DR MIM; 200500; phenotype.
DR MedGen; C0265559.
DR MeSH; D005532.
DR MeSH; D006228.
//
ID Achondrogenesis 1A.
AC DI-02719
AR ACG1A.
DE A form of achondrogenesis type 1, a lethal form of chondrodysplasia
DE characterized by deficient ossification in the lumbar vertebrae and
DE absent ossification in the sacral, pubic and ischial bones and
DE clinically by stillbirth or early death. In addition to severe
DE micromelia, there is a disproportionately large cranium due to marked
DE edema of soft tissues.
SY ACG-IA.
SY Achondrogenesis Houston-Harris type.
SY Achondrogenesis type IA.
DR MIM; 200600; phenotype.
DR MedGen; C0265273.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Achondrogenesis 1B.
AC DI-00019
AR ACG1B.
DE A form of achondrogenesis type 1, a lethal form of chondrodysplasia
DE characterized by deficient ossification in the lumbar vertebrae and
DE absent ossification in the sacral, pubic and ischial bones and
DE clinically by stillbirth or early death. In addition to severe
DE micromelia, there is a disproportionately large cranium due to marked
DE edema of soft tissues. ACG1B is an autosomal recessive disease.
SY ACG-IB.
SY Achondrogenesis Fraccaro type.
SY Achondrogenesis type IB.
SY Fraccaro achondrogenesis.
DR MIM; 600972; phenotype.
DR MedGen; C0265274.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Achondrogenesis 2.
AC DI-00020
AR ACG2.
DE An autosomal dominant disease characterized by the absence of
DE ossification in the vertebral column, sacrum and pubic bones.
SY ACG-II.
SY Achondrogenesis-hypochondrogenesis type II.
SY Achondrogenesis Langer-Saldino type.
SY Achondrogenesis type II.
DR MIM; 200610; phenotype.
DR MedGen; C0220685.
DR MedGen; C0542428.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Achondroplasia.
AC DI-00021
AR ACH.
DE A frequent form of short-limb dwarfism. It is characterized by a long,
DE narrow trunk, short extremities, particularly in the proximal
DE (rhizomelic) segments, a large head with frontal bossing, hypoplasia
DE of the midface and a trident configuration of the hands. ACH is an
DE autosomal dominant disease.
DR MIM; 100800; phenotype.
DR MedGen; C0001080.
DR MeSH; D000130.
KW KW-0242:Dwarfism.
//
ID Achondroplasia, severe, with developmental delay and acanthosis nigricans.
AC DI-04490
AR SADDAN.
DE A severe form of achondroplasia associated with developmental delay
DE and acanthosis nigricans. Patients manifest short-limb dwarfism, with
DE a long, narrow trunk, short extremities, particularly in the proximal
DE (rhizomelic) segments, a large head with frontal bossing, hypoplasia
DE of the midface and a trident configuration of the hands. Acanthosis
DE nigricans is a skin condition characterized by brown-pigmented,
DE velvety verrucosities in body folds and creases.
SY SADDAN dysplasia.
DR MIM; 616482; phenotype.
DR MedGen; CN231689.
DR MeSH; D000130.
KW KW-0242:Dwarfism.
//
ID Achromatopsia 2.
AC DI-00022
AR ACHM2.
DE An autosomal recessive, ocular stationary disorder due to the absence
DE of functioning cone photoreceptors in the retina. It is characterized
DE by total colorblindness, low visual acuity, photophobia and nystagmus.
SY Complete achromatopsia.
SY RMCH2.
SY Rod monochromacy 2.
SY Rod monochromatism 2.
SY Total colorblindness.
DR MIM; 216900; phenotype.
DR MedGen; C1857618.
DR MeSH; D003117.
//
ID Achromatopsia 3.
AC DI-00023
AR ACHM3.
DE An autosomal recessive, ocular stationary disorder due to the absence
DE of functioning cone photoreceptors in the retina. It is characterized
DE by total colorblindness, low visual acuity, photophobia and nystagmus.
DE Achromatopsia type 3 patients manifest severe myopia.
SY Achromatopsia with myopia.
SY Pingelapese blindness.
SY Total colorblindness with myopia.
DR MIM; 262300; phenotype.
DR MedGen; C1849792.
DR MeSH; D003117.
//
ID Achromatopsia 4.
AC DI-01166
AR ACHM4.
DE An ocular stationary disorder due to the absence of functioning cone
DE photoreceptors in the retina. It is characterized by total
DE colorblindness, low visual acuity, photophobia and nystagmus.
DR MIM; 613856; phenotype.
DR MedGen; C1841721.
DR MeSH; D003117.
//
ID Achromatopsia 5.
AC DI-05080
AR ACHM5.
DE A form of achromatopsia, an ocular stationary disorder due to the
DE absence of functioning cone photoreceptors in the retina. It is
DE characterized by total colorblindness, low visual acuity, photophobia
DE and nystagmus. ACHM5 inheritance is autosomal recessive.
DR MIM; 613093; phenotype.
DR MedGen; C2751309.
DR MeSH; D003117.
//
ID Achromatopsia 7.
AC DI-04499
AR ACHM7.
DE A form of achromatopsia, an ocular stationary disorder due to the
DE absence of functioning cone photoreceptors in the retina. It is
DE characterized by total colorblindness, low visual acuity, photophobia
DE and nystagmus.
DR MIM; 616517; phenotype.
DR MedGen; C4225297.
DR MeSH; D003117.
//
ID Acid-labile subunit deficiency.
AC DI-04198
AR ACLSD.
DE A disorder characterized by severely reduced serum IGF-I and IGFBP-3
DE concentrations and mild growth retardation. Pubertal delay in boys and
DE insulin insensitivity are common findings.
DR MIM; 615961; phenotype.
DR MedGen; CN069120.
DR MeSH; D006130.
//
ID Acne inversa, familial, 1.
AC DI-02995
AR ACNINV1.
DE A chronic relapsing inflammatory disease of the hair follicles
DE characterized by recurrent draining sinuses, painful skin abscesses,
DE and disfiguring scars. Manifestations typically appear after puberty.
SY Acne inversa familial.
SY Hidradenitis suppurativa familial.
DR MIM; 142690; phenotype.
DR MedGen; C1840560.
DR MeSH; D017497.
//
ID Acne inversa, familial, 2, with or without Dowling-Degos disease.
AC DI-02996
AR ACNINV2.
DE An autosomal dominant form of acne inversa, a chronic relapsing
DE inflammatory disease of the hair follicles characterized by recurrent
DE draining sinuses, painful skin abscesses, and disfiguring scars.
DE Manifestations typically appear after puberty. Some ACNINV2 patients
DE also exhibit reticulate hyperpigmentation consistent with Dowling-
DE Degos disease.
SY Acne inversa familial.
SY Hidradenitis suppurativa familial.
DR MIM; 613736; phenotype.
DR MedGen; C3151037.
DR MeSH; D017497.
//
ID Acne inversa, familial, 3.
AC DI-02997
AR ACNINV3.
DE A chronic relapsing inflammatory disease of the hair follicles
DE characterized by recurrent draining sinuses, painful skin abscesses,
DE and disfiguring scars. Manifestations typically appear after puberty.
SY Acne inversa familial.
SY Hidradenitis suppurativa familial.
DR MIM; 613737; phenotype.
DR MedGen; C3151038.
DR MeSH; D017497.
//
ID Acro-dermato-ungual-lacrimal-tooth syndrome.
AC DI-00028
AR ADULT syndrome.
DE A form of ectodermal dysplasia. Ectodermal dysplasia defines a
DE heterogeneous group of disorders due to abnormal development of two or
DE more ectodermal structures. ADULT syndrome involves ectrodactyly,
DE syndactyly, finger- and toenail dysplasia, hypoplastic breasts and
DE nipples, intensive freckling, lacrimal duct atresia, frontal alopecia,
DE primary hypodontia and loss of permanent teeth. ADULT syndrome differs
DE significantly from EEC3 syndrome by the absence of facial clefting.
DE Inheritance is autosomal dominant.
DR MIM; 103285; phenotype.
DR MedGen; C1863204.
DR MeSH; D004476.
KW KW-0038:Ectodermal dysplasia.
//
ID Acrocallosal syndrome.
AC DI-00025
AR ACLS.
DE An autosomal recessive syndrome characterized by hypogenesis or
DE agenesis of the corpus callosum. Clinical features include postaxial
DE polydactyly, hallux duplication, macrocephaly, craniofacial
DE abnormalities, severe developmental delay and intellectual disability.
SY Hallux duplication postaxial polydactyly and absence of corpus callosum.
SY Schinzel acrocallosal syndrome.
DR MIM; 200990; phenotype.
DR MedGen; C0796147.
DR MedGen; C2931760.
DR MeSH; D055673.
KW KW-1186:Ciliopathy.
//
ID Acrocapitofemoral dysplasia.
AC DI-00026
AR ACFD.
DE An autosomal recessive disorder characterized by short stature of
DE variable severity with postnatal onset. The most constant radiographic
DE abnormalities are observed in the tubular bones of the hands and in
DE the proximal part of the femur. Cone-shaped epiphyses or a similar
DE epiphyseal configuration with premature epimetaphyseal fusion result
DE in shortening of the skeletal components involved. Cone-shaped
DE epiphyses are also present to a variable extent at the shoulders,
DE knees and ankles.
DR MIM; 607778; phenotype.
DR MedGen; C1843096.
DR MeSH; D001848.
DR MeSH; D017880.
//
ID Acrodermatitis enteropathica, zinc-deficiency type.
AC DI-00027
AR AEZ.
DE A rare autosomal recessive disease caused by the inability to absorb
DE sufficient zinc. The clinical features are growth retardation, immune-
DE system dysfunction, alopecia, severe dermatitis, diarrhea and
DE occasionally mental disorders.
DR MIM; 201100; phenotype.
DR MedGen; C0221036.
DR MeSH; D000169.
//
ID Acrodysostosis 1, with or without hormone resistance.
AC DI-03459
AR ACRDYS1.
DE A form of skeletal dysplasia characterized by short stature, severe
DE brachydactyly, facial dysostosis, and nasal hypoplasia. Affected
DE individuals often have advanced bone age and obesity. Laboratory
DE studies show resistance to multiple hormones, including parathyroid,
DE thyrotropin, calcitonin, growth hormone-releasing hormone, and
DE gonadotropin. However, not all patients show endocrine abnormalities.
SY ADOHR.
SY Arkless-Graham syndrome.
SY Maroteaux-Malamut syndrome.
DR MIM; 101800; phenotype.
DR MedGen; C0220659.
DR MedGen; C3276228.
DR MeSH; D004413.
//
ID Acrodysostosis 2, with or without hormone resistance.
AC DI-03460
AR ACRDYS2.
DE A pleiotropic disorder characterized by skeletal, endocrine, and
DE neurological abnormalities. Skeletal features include brachycephaly,
DE midface hypoplasia with a small upturned nose, brachydactyly, and
DE lumbar spinal stenosis. Endocrine abnormalities include hypothyroidism
DE and hypogonadism in males and irregular menses in females.
DE Developmental disability is a common finding but is variable in
DE severity and can be associated with significant behavioral problems.
DR MIM; 614613; phenotype.
DR MedGen; C3553250.
DR MedGen; CN124736.
DR MeSH; D004413.
//
ID Acrofacial dysostosis 1, Nager type.
AC DI-03474
AR AFD1.
DE A form of acrofacial dysostosis, a group of disorders which are
DE characterized by malformation of the craniofacial skeleton and the
DE limbs. The major facial features of AFD1 include downslanted palpebral
DE fissures, midface retrusion, and micrognathia, the latter of which
DE often requires the placement of a tracheostomy in early childhood.
DE Limb defects typically involve the anterior (radial) elements of the
DE upper limbs and manifest as small or absent thumbs, triphalangeal
DE thumbs, radial hyoplasia or aplasia, and radioulnar synostosis.
DE Phocomelia of the upper limbs and, occasionally, lower-limb defects
DE have also been reported.
SY AFD Nager type.
SY Mandibulofacial dysostosis Treacher Collins type with limb anomalies.
SY Nager acrofacial dysostosis.
SY Nager syndrome.
DR MIM; 154400; phenotype.
DR MedGen; C0265245.
DR MeSH; D008342.
//
ID Acrofacial dysostosis, Cincinnati type.
AC DI-04483
AR AFDCIN.
DE A form of acrofacial dysostosis, a group of disorders which are
DE characterized by malformation of the craniofacial skeleton and, in
DE some patients, the limbs.
DR MIM; 616462; phenotype.
DR MedGen; CN231445.
DR MeSH; D008342.
//
ID Acrofacial dysostosis, Weyers type.
AC DI-00029
AR WAD.
DE An autosomal dominant condition characterized by dysplastic nails,
DE postaxial polydactyly, dental anomalies, short limbs, short stature
DE and normal intelligence. The phenotype is milder than Ellis-van
DE Creveld syndrome.
SY Acrodental dysostosis of Weyers.
SY Curry-Hall syndrome.
SY Weyers acrofacial dysostosis.
DR MIM; 193530; phenotype.
DR MedGen; C0457013.
DR MeSH; D004413.
//
ID Acrokeratosis verruciformis.
AC DI-00030
AR AKV.
DE A localized disorder of keratinization, which is inherited as an
DE autosomal dominant trait. Its onset is early in life with multiple
DE flat-topped, flesh-colored papules on the hands and feet, punctate
DE keratoses on the palms and soles, with varying degrees of nail
DE involvement. The histopathology shows a distinctive pattern of
DE epidermal features with hyperkeratosis, hypergranulosis and acanthosis
DE together with papillomatosis. These changes are frequently associated
DE with circumscribed elevations of the epidermis that are said to
DE resemble church spires. There are no features of dyskeratosis or
DE acantholysis, the typical findings in lesions of Darier disease.
SY Hopf disease.
DR MIM; 101900; phenotype.
DR MedGen; C0265971.
DR MeSH; D007642.
//
ID Acromelic frontonasal dysostosis.
AC DI-04203
AR AFND.
DE A rare variant form of frontonasal dysplasia, an array of
DE abnormalities affecting the eyes, forehead and nose and linked to
DE midfacial dysraphia. The clinical picture is highly variable. Major
DE findings include true ocular hypertelorism, broadening of the nasal
DE root, median facial cleft affecting the nose and/or upper lip and
DE palate, unilateral or bilateral clefting of the alae nasi, lack of
DE formation of the nasal tip, anterior cranium bifidum occultum, a V-
DE shaped or widow's peak frontal hairline. AFND is characterized by the
DE association of frontonasal malformations with various combinations of
DE polydactyly, tibial hypoplasia, epibulbar dermoid, encephalocoele,
DE corpus callosum agenesis and Dandy-Walker malformation.
DR MIM; 603671; phenotype.
DR MedGen; C1863616.
DR MeSH; D000013.
//
ID Acromesomelic dysplasia 1.
AC DI-00034
AR AMD1.
DE A form of acromesomelic dysplasia, a skeletal disorder characterized
DE by short stature, very short limbs and hand/foot malformations. The
DE severity of limb abnormalities increases from proximal to distal with
DE profoundly affected hands and feet showing brachydactyly and/or
DE rudimentary fingers (knob-like fingers). AMD1 is an autosomal
DE recessive form characterized by axial skeletal involvement with
DE wedging of vertebral bodies. All skeletal elements are present but
DE show abnormal rates of linear growth.
SY Acromesomelic dysplasia, Maroteaux type.
SY AMDM.
SY St. Helena dysplasia.
DR MIM; 602875; phenotype.
DR MedGen; C0265278.
DR MedGen; C1864356.
DR MeSH; D004392.
KW KW-0242:Dwarfism.
//
ID Acromesomelic dysplasia 2A.
AC DI-00031
AR AMD2A.
DE A form of acromesomelic dysplasia, a skeletal disorder characterized
DE by short stature, very short limbs and hand/foot malformations. The
DE severity of limb abnormalities increases from proximal to distal with
DE profoundly affected hands and feet showing brachydactyly and/or
DE rudimentary fingers (knob-like fingers). AMD2A is an autosomal
DE recessive form characterized by normal axial skeletons and missing or
DE fused skeletal elements within the hands and feet.
SY Acromesomelic chondrodysplasia, Grebe type.
SY AMDG.
DR MIM; 200700; phenotype.
DR MedGen; C0265260.
DR MeSH; D004392.
KW KW-0242:Dwarfism.
//
ID Acromesomelic dysplasia 2B.
AC DI-01505
AR AMD2B.
DE A form of acromesomelic dysplasia, a skeletal disorder characterized
DE by short stature, very short limbs and hand/foot malformations. The
DE severity of limb abnormalities increases from proximal to distal with
DE profoundly affected hands and feet showing brachydactyly and/or
DE rudimentary fingers (knob-like fingers). AMD2B is an autosomal
DE recessive form characterized by acromesomelic limb shortening with
DE severe reduction or absence of the fibula, and severe hand and feet
DE abnormalities including complex brachydactyly.
SY DUPANS.
SY Du Pan syndrome.
SY Fibular hypoplasia and complex brachydactyly.
DR MIM; 228900; phenotype.
DR MedGen; C1856738.
DR MeSH; D059327.
//
ID Acromesomelic dysplasia 2C.
AC DI-00032
AR AMD2C.
DE A form of acromesomelic dysplasia, a skeletal disorder characterized
DE by short stature, very short limbs and hand/foot malformations. The
DE severity of limb abnormalities increases from proximal to distal with
DE profoundly affected hands and feet showing brachydactyly and/or
DE rudimentary fingers (knob-like fingers). AMD2C is an autosomal
DE recessive form characterized by skeletal abnormalities restricted to
DE the limbs. The craniofacial skeleton and axial skeletal structures are
DE normal.
SY Acromesomelic chondrodysplasia, Hunter-Thompson type.
SY AMDH.
DR MIM; 201250; phenotype.
DR MedGen; CN028907.
DR MeSH; D004392.
KW KW-0242:Dwarfism.
//
ID Acromesomelic dysplasia 3.
AC DI-00033
AR AMD3.
DE A form of acromesomelic dysplasia, a skeletal disorder characterized
DE by short stature, very short limbs and hand/foot malformations. The
DE severity of limb abnormalities increases from proximal to distal with
DE profoundly affected hands and feet showing brachydactyly and/or
DE rudimentary fingers (knob-like fingers). AMD3 is an autosomal
DE recessive form characterized by bilateral aplasia of the fibula,
DE severe brachydactyly, and fusion of carpal and tarsal bones.
SY Acromesomelic chondrodysplasia, with genital anomalies.
SY Acromesomelic dysplasia, Demirhan type.
SY AMDD.
SY Chondrodysplasia, acromesomelic, with or without genital anomalies.
DR MIM; 609441; phenotype.
DR MedGen; C1836182.
DR MeSH; D004392.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Acromesomelic dysplasia 4.
AC DI-06276
AR AMD4.
DE A form of acromesomelic dysplasia, a skeletal disorder characterized
DE by short stature, very short limbs and hand/foot malformations. The
DE severity of limb abnormalities increases from proximal to distal with
DE profoundly affected hands and feet showing brachydactyly and/or
DE rudimentary fingers (knob-like fingers). AMD4 radiographic hallmarks
DE include mild to moderate platyspondyly, moderate brachydactyly, iliac
DE flaring, and metaphyseal alterations of the long bones that
DE progressively increase with age. AMD4 inheritance is autosomal
DE recessive.
DR MIM; 619636; phenotype.
DR MedGen; CN304774.
DR MeSH; D004392.
KW KW-0242:Dwarfism.
//
ID Acromicric dysplasia.
AC DI-03225
AR ACMICD.
DE An autosomal dominant disorder characterized by severe short stature,
DE short hands and feet, joint limitations, and skin thickening.
DE Radiologic features include delayed bone age, cone-shaped epiphyses,
DE shortened long tubular bones, and ovoid vertebral bodies. Affected
DE individuals have distinct facial features, including round face, well-
DE defined eyebrows, long eyelashes, bulbous nose with anteverted
DE nostrils, long and prominent philtrum, and thick lips with a small
DE mouth. Other characteristic features include hoarse voice and
DE pseudomuscular build, and there are distinct skeletal features as
DE well, including an internal notch of the femoral head, internal notch
DE of the second metacarpal, and external notch of the fifth metacarpal.
DR MIM; 102370; phenotype.
DR MedGen; CN074238.
DR MeSH; D001848.
KW KW-0242:Dwarfism.
//
ID ACTH deficiency, isolated.
AC DI-00035
AR IAD.
DE An autosomal recessive disorder that is characterized by adrenal
DE insufficiency symptoms, such as weight loss, lack of appetite
DE (anorexia), weakness, nausea, vomiting and low blood pressure
DE (hypotension). The pituitary hormone ACTH is decreased or absent, and
DE other cortisol and other steroid hormone levels in the blood are
DE abnormally low.
SY Adrenocorticotropic hormone deficiency.
DR MIM; 201400; phenotype.
DR MedGen; C0271583.
DR MedGen; C0342388.
DR MeSH; D007018.
//
ID ACTH-independent macronodular adrenal hyperplasia 1.
AC DI-01167
AR AIMAH1.
DE A rare adrenal defect characterized by multiple, bilateral, non-
DE pigmented, benign, adrenocortical nodules. It results in excessive
DE production of cortisol leading to ACTH-independent Cushing syndrome.
DE Clinical manifestations of Cushing syndrome include facial and truncal
DE obesity, abdominal striae, muscular weakness, osteoporosis, arterial
DE hypertension, diabetes.
SY ACTH-independent Cushing syndrome.
SY ACTH-independent macronodular adrenocortical hyperplasia.
SY Adrenal Cushing syndrome due to AIMAH.
SY Adrenocorticotropic hormone-independent macronodular adrenal hyperplasia.
SY Corticotropin-independent macronodular adrenal hyperplasia.
DR MIM; 219080; phenotype.
DR MedGen; C1857451.
DR MeSH; D003480.
KW KW-1062:Cushing syndrome.
//
ID ACTH-independent macronodular adrenal hyperplasia 2.
AC DI-04195
AR AIMAH2.
DE A form of macronodular adrenal hyperplasia characterized by multiple,
DE bilateral, non-pigmented, benign, adrenocortical nodules. It results
DE in excessive production of cortisol leading to ACTH-independent
DE Cushing syndrome. Clinical manifestations of Cushing syndrome include
DE facial and truncal obesity, abdominal striae, muscular weakness,
DE osteoporosis, arterial hypertension, diabetes.
SY Primary macronodular adrenal hyperplasia.
DR MIM; 615954; phenotype.
DR MedGen; CN207837.
DR MeSH; D003480.
KW KW-1062:Cushing syndrome.
//
ID Acute hepatic porphyria.
AC DI-00036
AR AHEPP.
DE A form of porphyria. Porphyrias are inherited defects in the
DE biosynthesis of heme, resulting in the accumulation and increased
DE excretion of porphyrins or porphyrin precursors. They are classified
DE as erythropoietic or hepatic, depending on whether the enzyme
DE deficiency occurs in red blood cells or in the liver. AHP is
DE characterized by attacks of gastrointestinal disturbances, abdominal
DE colic, paralyses and peripheral neuropathy. Most attacks are
DE precipitated by drugs, alcohol, caloric deprivation, infections, or
DE endocrine factors.
SY ALAD deficiency.
SY Delta-aminolevulinate dehydratase deficiency.
SY Doss porphyria.
SY Porphobilinogen synthase deficiency.
SY Porphyria ALAD.
DR MIM; 612740; phenotype.
DR MedGen; C0268328.
DR MedGen; C2748608.
DR MeSH; D017094.
//
ID Acute intermittent porphyria.
AC DI-00037
AR AIP.
DE A form of porphyria. Porphyrias are inherited defects in the
DE biosynthesis of heme, resulting in the accumulation and increased
DE excretion of porphyrins or porphyrin precursors. They are classified
DE as erythropoietic or hepatic, depending on whether the enzyme
DE deficiency occurs in red blood cells or in the liver. AIP is an
DE autosomal dominant form of hepatic porphyria characterized by attacks
DE of gastrointestinal disturbances, abdominal colic, with neurological
DE dysfunctions, hypertension, tachycardia and peripheral neuropathy.
DE Most attacks are precipitated by drugs, alcohol, caloric deprivation,
DE infections, or endocrine factors.
SY PBGD deficiency.
SY Porphobilinogen deaminase deficiency.
SY Porphyria, Swedish type.
SY UPS deficiency.
SY Uroporphyrinogen synthase deficiency.
DR MIM; 176000; phenotype.
DR MedGen; C0162565.
DR MedGen; C0268322.
DR MedGen; C0311292.
DR MedGen; C1867969.
DR MedGen; C2936779.
DR MeSH; D017118.
//
ID Acyl-CoA dehydrogenase medium-chain deficiency.
AC DI-01956
AR ACADMD.
DE An inborn error of mitochondrial fatty acid beta-oxidation which
DE causes fasting hypoglycemia, hepatic dysfunction and encephalopathy,
DE often resulting in death in infancy.
SY ACADM deficiency.
SY Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency.
SY MCAD deficiency.
SY MCADH deficiency.
DR MIM; 201450; phenotype.
DR MedGen; C0220710.
DR MeSH; D008052.
//
ID Acyl-CoA dehydrogenase short-chain deficiency.
AC DI-02301
AR ACADSD.
DE An inborn error of mitochondrial fatty acid beta-oxidation resulting
DE in acute acidosis and muscle weakness in infants, and a form of lipid-
DE storage myopathy in adults.
SY ACADS deficiency.
SY Lipid-storage myopathy secondary to short-chain acyl-CoA dehydrogenase deficiency.
SY SCAD deficiency.
SY SCADH deficiency.
DR MIM; 201470; phenotype.
DR MedGen; C0342783.
DR MeSH; D008052.
//
ID Acyl-CoA dehydrogenase very long-chain deficiency.
AC DI-02411
AR ACADVLD.
DE An inborn error of mitochondrial fatty acid beta-oxidation which leads
DE to impaired long-chain fatty acid beta-oxidation. It is clinically
DE heterogeneous, with three major phenotypes: a severe childhood form
DE characterized by early onset, high mortality and high incidence of
DE cardiomyopathy; a milder childhood form with later onset,
DE characterized by hypoketotic hypoglycemia, low mortality and rare
DE cardiomyopathy; an adult form, with isolated skeletal muscle
DE involvement, rhabdomyolysis and myoglobinuria, usually triggered by
DE exercise or fasting.
SY ACADL deficiency.
SY Acyl-CoA dehydrogenase long-chain deficiency.
SY LCAD deficiency.
SY VLCAD deficiency.
DR MIM; 201475; phenotype.
DR MedGen; C0342784.
DR MeSH; D008052.
//
ID Adams-Oliver syndrome 1.
AC DI-03194
AR AOS1.
DE A disorder characterized by the congenital absence of skin (aplasia
DE cutis congenita) in combination with transverse limb defects. Aplasia
DE cutis congenita can be located anywhere on the body, but in the vast
DE majority of the cases, it is present on the posterior parietal region
DE where it is often associated with an underlying defect of the parietal
DE bones. Limb abnormalities are typically limb truncation defects
DE affecting the distal phalanges or entire digits (true ectrodactyly).
DE Only rarely, metatarsals/metacarpals or more proximal limb structures
DE are also affected. Apart from transverse limb defects, syndactyly,
DE most commonly of second and third toes, can also be observed. The
DE clinical features are highly variable and can also include
DE cardiovascular malformations, brain abnormalities and vascular defects
DE such as cutis marmorata and dilated scalp veins.
SY Absence defect of limbs scalp and skull.
SY Aplasia cutis congenita with terminal transverse limb defects.
SY Congenital scalp defects with distal limb reduction anomalies.
DR MIM; 100300; phenotype.
DR MedGen; C0265268.
DR MedGen; C1970140.
DR MedGen; CN028867.
DR MeSH; D004476.
DR MeSH; D017880.
//
ID Adams-Oliver syndrome 2.
AC DI-03223
AR AOS2.
DE A disorder characterized by the congenital absence of skin (aplasia
DE cutis congenita) in combination with transverse limb defects. Aplasia
DE cutis congenita can be located anywhere on the body, but in the vast
DE majority of the cases, it is present on the posterior parietal region
DE where it is often associated with an underlying defect of the parietal
DE bones. Limb abnormalities are typically limb truncation defects
DE affecting the distal phalanges or entire digits (true ectrodactyly).
DE Only rarely, metatarsals/metacarpals or more proximal limb structures
DE are also affected. Apart from transverse limb defects, syndactyly,
DE most commonly of second and third toes, can also be observed. The
DE clinical features are highly variable and can also include
DE cardiovascular malformations, brain abnormalities and vascular defects
DE such as cutis marmorata and dilated scalp veins.
DR MIM; 614219; phenotype.
DR MedGen; C3280182.
DR MeSH; D004476.
DR MeSH; D017880.
//
ID Adams-Oliver syndrome 3.
AC DI-03522
AR AOS3.
DE An autosomal dominant form of Adams-Oliver syndrome, a disorder
DE characterized by the congenital absence of skin (aplasia cutis
DE congenita) in combination with transverse limb defects. Aplasia cutis
DE congenita can be located anywhere on the body, but in the vast
DE majority of the cases, it is present on the posterior parietal region
DE where it is often associated with an underlying defect of the parietal
DE bones. Limb abnormalities are typically limb truncation defects
DE affecting the distal phalanges or entire digits (true ectrodactyly).
DE Only rarely, metatarsals/metacarpals or more proximal limb structures
DE are also affected. Apart from transverse limb defects, syndactyly,
DE most commonly of second and third toes, can also be observed. The
DE clinical features are highly variable and can also include
DE cardiovascular malformations, brain abnormalities and vascular defects
DE such as cutis marmorata and dilated scalp veins. AOS3 patients
DE manifest characteristic vertex scalp defects and terminal limb
DE defects, but without congenital heart defects, other associated
DE defects, or immune defects.
DR MIM; 614814; phenotype.
DR MedGen; C3553748.
DR MedGen; CN143713.
DR MeSH; D004476.
DR MeSH; D017880.
//
ID Adams-Oliver syndrome 4.
AC DI-03817
AR AOS4.
DE A form of Adams-Oliver syndrome, a disorder characterized by the
DE congenital absence of skin (aplasia cutis congenita) in combination
DE with transverse limb defects. Aplasia cutis congenita can be located
DE anywhere on the body, but in the vast majority of the cases, it is
DE present on the posterior parietal region where it is often associated
DE with an underlying defect of the parietal bones. Limb abnormalities
DE are typically limb truncation defects affecting the distal phalanges
DE or entire digits (true ectrodactyly). Only rarely,
DE metatarsals/metacarpals or more proximal limb structures are also
DE affected. Apart from transverse limb defects, syndactyly, most
DE commonly of second and third toes, can also be observed. The clinical
DE features are highly variable and can also include cardiovascular
DE malformations, brain abnormalities and vascular defects such as cutis
DE marmorata and dilated scalp veins.
DR MIM; 615297; phenotype.
DR MedGen; C3809092.
DR MedGen; CN177721.
DR MeSH; D004476.
DR MeSH; D017880.
//
ID Adams-Oliver syndrome 5.
AC DI-04227
AR AOS5.
DE A form of Adams-Oliver syndrome, a disorder characterized by the
DE congenital absence of skin (aplasia cutis congenita) in combination
DE with transverse limb defects. Aplasia cutis congenita can be located
DE anywhere on the body, but in the vast majority of the cases, it is
DE present on the posterior parietal region where it is often associated
DE with an underlying defect of the parietal bones. Limb abnormalities
DE are typically limb truncation defects affecting the distal phalanges
DE or entire digits (true ectrodactyly). Only rarely,
DE metatarsals/metacarpals or more proximal limb structures are also
DE affected. Apart from transverse limb defects, syndactyly, most
DE commonly of second and third toes, can also be observed. The clinical
DE features are highly variable and can also include cardiovascular
DE malformations, brain abnormalities and vascular defects such as cutis
DE marmorata and dilated scalp veins.
DR MIM; 616028; phenotype.
DR MedGen; CN219575.
DR MeSH; D004476.
DR MeSH; D017880.
//
ID Adams-Oliver syndrome 6.
AC DI-04559
AR AOS6.
DE A form of Adams-Oliver syndrome, a disorder characterized by the
DE congenital absence of skin (aplasia cutis congenita) in combination
DE with transverse limb defects. Aplasia cutis congenita can be located
DE anywhere on the body, but in the vast majority of the cases, it is
DE present on the posterior parietal region where it is often associated
DE with an underlying defect of the parietal bones. Limb abnormalities
DE are typically limb truncation defects affecting the distal phalanges
DE or entire digits (true ectrodactyly). Only rarely,
DE metatarsals/metacarpals or more proximal limb structures are also
DE affected. Apart from transverse limb defects, syndactyly, most
DE commonly of second and third toes, can also be observed. The clinical
DE features are highly variable and can also include cardiovascular
DE malformations, brain abnormalities and vascular defects such as cutis
DE marmorata and dilated scalp veins.
DR MIM; 616589; phenotype.
DR MedGen; CN233136.
DR MeSH; D004476.
DR MeSH; D017880.
//
ID Adenine phosphoribosyltransferase deficiency.
AC DI-01188
AR APRTD.
DE An enzymatic deficiency that can lead to urolithiasis and renal
DE failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones.
SY 2,8-dihydroxyadenine urolithiasis.
SY APRT deficiency.
SY Nephrolithiasis DHA.
SY Urolithiasis DHA.
DR MIM; 614723; phenotype.
DR MedGen; C0268120.
DR MedGen; C0268121.
DR MedGen; C3665382.
DR MeSH; D011686.
//
ID Adenosine monophosphate deaminase deficiency erythrocyte type.
AC DI-00038
AR AMPDDE.
DE A metabolic disorder due to lack of activity of the erythrocyte
DE isoform of AMP deaminase. It is a clinically asymptomatic condition
DE characterized by a 50% increase in steady-state levels of ATP in
DE affected cells. Individuals with complete deficiency of erythrocyte
DE AMP deaminase are healthy and have no hematologic disorders.
SY AMP deaminase deficiency erythrocyte type.
SY Erythrocyte AMP deaminase deficiency.
DR MIM; 612874; phenotype.
DR MedGen; C2752073.
DR MeSH; D008659.
//
ID Adenylosuccinase deficiency.
AC DI-00040
AR ADSLD.
DE An autosomal recessive disorder characterized by the accumulation in
DE the body fluids of succinylaminoimidazole-carboxamide riboside (SAICA-
DE riboside) and succinyladenosine (S-Ado). Most children display marked
DE psychomotor delay, often accompanied by epilepsy or autistic features,
DE or both, although some patients may be less profoundly retarded.
DE Occasionally, growth retardation and muscular wasting are also
DE present.
SY Adenylosuccinate lyase deficiency.
SY ADSL deficiency.
DR MIM; 103050; phenotype.
DR MedGen; C0268126.
DR MeSH; D011686.
KW KW-0887:Epilepsy.
//
ID Adermatoglyphia.
AC DI-03267
AR ADERM.
DE An autosomal dominant condition characterized by the lack of epidermal
DE ridges on the palms and soles, which results in the absence of
DE fingerprints, and is associated with a reduced number of sweat gland
DE openings and reduced sweating of palms and soles.
SY Absence of fingerprints.
SY Immigration delay disease.
DR MIM; 136000; phenotype.
DR MedGen; C1851080.
DR MedGen; C1852150.
DR MeSH; D012868.
//
ID Adie pupil.
AC DI-01174
AR ADIEP.
DE A stationary, benign disorder characterized by tonic, sluggishly
DE reacting pupil and hypoactive or absent tendon reflexes. Adie pupil is
DE a characteristic of Charcot-Marie-Tooth disease type 2J.
SY Adie syndrome.
SY Holmes-Adie syndrome.
SY Tonic pupil.
DR MIM; 103100; phenotype.
DR MedGen; C0001519.
DR MeSH; D015845.
//
ID Adiponectin deficiency.
AC DI-00041
AR ADPND.
DE A condition that results in very low concentrations of plasma
DE adiponectin.
DR MIM; 612556; phenotype.
DR MedGen; C2675517.
DR MedGen; C2675518.
DR MedGen; C2675519.
DR MeSH; D003924.
DR MeSH; D009765.
KW KW-0219:Diabetes mellitus.
KW KW-0550:Obesity.
//
ID Adrenal hyperplasia 1.
AC DI-01407
AR AH1.
DE The most severe form of adrenal hyperplasia. It is a condition
DE characterized by onset of profound adrenocortical insufficiency
DE shortly after birth, hyperpigmentation reflecting increased production
DE of pro-opiomelanocortin, elevated plasma renin activity as a
DE consequence of reduced aldosterone synthesis, and male
DE pseudohermaphroditism resulting from deficient fetal testicular
DE testosterone synthesis. Affected individuals are phenotypic females
DE irrespective of gonadal sex, and frequently die in infancy if
DE mineralocorticoid and glucocorticoid replacement are not instituted.
SY Congenital lipoid adrenal hyperplasia.
SY Congenital lipoid hyperplasia of adrenal cortex with male pseudohermaphroditism.
SY Lipoid CAH.
DR MIM; 201710; phenotype.
DR MedGen; C0342474.
DR MeSH; D000312.
KW KW-0954:Congenital adrenal hyperplasia.
//
ID Adrenal hyperplasia 2.
AC DI-00042
AR AH2.
DE A form of congenital adrenal hyperplasia, a common recessive disease
DE due to defective synthesis of cortisol. Congenital adrenal hyperplasia
DE is characterized by androgen excess leading to ambiguous genitalia in
DE affected females, rapid somatic growth during childhood in both sexes
DE with premature closure of the epiphyses and short adult stature. Four
DE clinical types: 'salt wasting' (SW, the most severe type), 'simple
DE virilizing' (SV, less severely affected patients), with normal
DE aldosterone biosynthesis, 'non-classic form' or late-onset (NC or
DE LOAH) and 'cryptic' (asymptomatic). In AH2, virilization is much less
DE marked or does not occur. AH2 is frequently lethal in early life.
SY 3-beta-HSD deficiency.
SY 3-beta-hydroxysteroid dehydrogenase type II deficiency.
SY Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency.
SY Adrenal hyperplasia type II.
SY AH-II.
SY Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase type II deficiency.
DR MIM; 201810; phenotype.
DR MedGen; C0342471.
DR MeSH; D000312.
KW KW-0954:Congenital adrenal hyperplasia.
//
ID Adrenal hyperplasia 3.
AC DI-00043
AR AH3.
DE A form of congenital adrenal hyperplasia, a common recessive disease
DE due to defective synthesis of cortisol. Congenital adrenal hyperplasia
DE is characterized by androgen excess leading to ambiguous genitalia in
DE affected females, rapid somatic growth during childhood in both sexes
DE with premature closure of the epiphyses and short adult stature. Four
DE clinical types: 'salt wasting' (SW, the most severe type), 'simple
DE virilizing' (SV, less severely affected patients), with normal
DE aldosterone biosynthesis, 'non-classic form' or late-onset (NC or
DE LOAH) and 'cryptic' (asymptomatic).
SY Adrenal hyperplasia type III.
SY AH-III.
SY CAH1.
SY Congenital adrenal hyperplasia 1.
SY Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
SY Hyperandrogenism nonclassic type due to 21-hydroxylase deficiency.
DR MIM; 201910; phenotype.
DR MedGen; C0852654.
DR MedGen; C1859995.
DR MedGen; C2936858.
DR MeSH; D000312.
KW KW-0954:Congenital adrenal hyperplasia.
//
ID Adrenal hyperplasia 4.
AC DI-00044
AR AH4.
DE A form of congenital adrenal hyperplasia, a common recessive disease
DE due to defective synthesis of cortisol. Congenital adrenal hyperplasia
DE is characterized by androgen excess leading to ambiguous genitalia in
DE affected females, rapid somatic growth during childhood in both sexes
DE with premature closure of the epiphyses and short adult stature. Four
DE clinical types: 'salt wasting' (SW, the most severe type), 'simple
DE virilizing' (SV, less severely affected patients), with normal
DE aldosterone biosynthesis, 'non-classic form' or late-onset (NC or
DE LOAH) and 'cryptic' (asymptomatic).
SY Adrenal hyperplasia type IV.
SY AH-IV.
SY Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency.
DR MIM; 202010; phenotype.
DR MedGen; C0268292.
DR MeSH; D000312.
KW KW-0954:Congenital adrenal hyperplasia.
//
ID Adrenal hyperplasia 5.
AC DI-00045
AR AH5.
DE A form of congenital adrenal hyperplasia, a common recessive disease
DE due to defective synthesis of cortisol. Congenital adrenal hyperplasia
DE is characterized by androgen excess leading to ambiguous genitalia in
DE affected females, rapid somatic growth during childhood in both sexes
DE with premature closure of the epiphyses and short adult stature. Four
DE clinical types: 'salt wasting' (SW, the most severe type), 'simple
DE virilizing' (SV, less severely affected patients), with normal
DE aldosterone biosynthesis, 'non-classic form' or late-onset (NC or
DE LOAH) and 'cryptic' (asymptomatic).
SY Adrenal hyperplasia type V.
SY AH-V.
SY Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency.
DR MIM; 202110; phenotype.
DR MedGen; C0268285.
DR MedGen; C2242824.
DR MedGen; C3277849.
DR MedGen; C3277851.
DR MeSH; D000312.
KW KW-0954:Congenital adrenal hyperplasia.
//
ID Adrenal hypoplasia, congenital.
AC DI-02426
AR AHC.
DE A disorder of adrenal gland development characterized by absence of
DE the permanent zone of the adrenal cortex, structural disorganization
DE of the adrenal glands, adrenal insufficiency and profound hormonal
DE deficiencies. AHC patients manifest primary adrenal failure usually in
DE early infancy, and hypogonadotropic hypogonadism leading to absent or
DE incomplete sexual maturation. AHC can be inherited in an X-linked or
DE autosomal recessive pattern.
SY Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism.
SY AHCH.
SY AHC with HHG.
SY AHC with isolated gonadotropin deficiency.
SY AHX.
SY Cytomegalic adrenocortical hypoplasia.
SY X-linked Addison disease.
SY X-linked adrenal hypoplasia congenital.
DR MIM; 300200; phenotype.
DR MedGen; C0220766.
DR MedGen; C0342482.
DR MedGen; C1846220.
DR MedGen; C1846221.
DR MeSH; D000309.
//
ID Adrenal insufficiency, congenital, with 46,XY sex reversal.
AC DI-03022
AR AICSR.
DE A rare disorder that can present as acute adrenal insufficiency in
DE infancy or childhood. ACTH and plasma renin activity are elevated and
DE adrenal steroids are inappropriately low or absent; the 46,XY patients
DE have female external genitalia, sometimes with clitoromegaly. The
DE phenotypic spectrum ranges from prematurity, complete
DE underandrogenization, and severe early-onset adrenal failure to term
DE birth with clitoromegaly and later-onset adrenal failure. Patients
DE with congenital adrenal insufficiency do not manifest the massive
DE adrenal enlargement typical of congenital lipoid adrenal hyperplasia.
SY Adrenal insufficiency congenital with 46,XY sex reversal partial or complete.
SY P450scc deficiency.
DR MIM; 613743; phenotype.
DR MedGen; C3151055.
DR MeSH; D047808.
//
ID Adrenal insufficiency, NR5A1-related.
AC DI-05003
AR AINR.
DE A disorder characterized by adrenal insufficiency, muscular hypotonia,
DE decreased sodium and increased potassium levels, elevated ACTH, salt-
DE wasting crisis, prolonged jaundice, hypoglycemia, and vomiting.
DR MIM; 612964; phenotype.
DR MedGen; CN244003.
DR MeSH; D000309.
//
ID Adrenocortical carcinoma.
AC DI-02740
AR ADCC.
DE A malignant neoplasm of the adrenal cortex and a rare childhood tumor.
DE It occurs with increased frequency in patients with Beckwith-Wiedemann
DE syndrome and Li-Fraumeni syndrome.
SY Hereditary adrenocortical carcinoma.
SY Pediatric adrenocortical carcinoma.
DR MIM; 202300; phenotype.
DR MedGen; C1859972.
DR MedGen; C1859973.
DR MeSH; D018268.
//
ID Adrenoleukodystrophy.
AC DI-00050
AR ALD.
DE A peroxisomal metabolic disorder characterized by progressive
DE multifocal demyelination of the central nervous system and by
DE peripheral adrenal insufficiency (Addison disease). It results in
DE mental deterioration, corticospinal tract dysfunction, and cortical
DE blindness. Different clinical manifestations exist like: cerebral
DE childhood ALD (CALD), adult cerebral ALD (ACALD),
DE adrenomyeloneuropathy (AMN) and 'Addison disease only' (ADO)
DE phenotype.
SY Addison disease and cerebral sclerosis.
SY Adrenomyeloneuropathy.
SY AMN.
SY Bronze Schilder disease.
SY Melanodermic leukodystrophy.
SY Siemerling-Creutzfeldt disease.
DR MIM; 300100; phenotype.
DR MedGen; C0162309.
DR MedGen; C1527231.
DR MedGen; C2931920.
DR MeSH; D000326.
//
ID Adrenoleukodystrophy, pseudoneonatal.
AC DI-00049
AR Pseudo-NALD.
DE A peroxisomal single-enzyme disorder of fatty acid beta-oxidation,
DE resulting in clinical manifestations that remind neonatal
DE adrenoleukodystrophy. Clinical features include intellectual
DE disability, leukodystrophy, seizures, mild hepatomegaly, hearing
DE deficit. Pseudo-NALD is characterized by increased plasma levels of
DE very-long chain fatty acids, due to decreased or absent peroxisome
DE acyl-CoA oxidase activity. Peroxisomes are intact and functioning.
SY Peroxisomal acyl-CoA oxidase deficiency.
DR MIM; 264470; phenotype.
DR MedGen; C1849678.
DR MeSH; D000326.
//
ID Advanced sleep phase syndrome, familial, 1.
AC DI-01548
AR FASPS1.
DE A disorder characterized by very early sleep onset and offset.
DE Individuals are 'morning larks' with a 4 hours advance of the sleep,
DE temperature and melatonin rhythms.
DR MIM; 604348; phenotype.
DR MedGen; C1858496.
DR MeSH; D020178.
//
ID Advanced sleep phase syndrome, familial, 2.
AC DI-03718
AR FASPS2.
DE A disorder characterized by very early sleep onset and offset.
DE Individuals are 'morning larks' with a 4 hours advance of the sleep,
DE temperature and melatonin rhythms.
DR MIM; 615224; phenotype.
DR MedGen; C3808874.
DR MedGen; CN169521.
DR MeSH; D020178.
//
ID Advanced sleep phase syndrome, familial, 3.
AC DI-04696
AR FASPS3.
DE A disorder characterized by very early sleep onset and offset.
DE Individuals are 'morning larks' with a 4 hours advance of the sleep,
DE temperature and melatonin rhythms.
DR MIM; 616882; phenotype.
DR MedGen; CN235882.
DR MeSH; D020178.
//
ID Agammaglobulinemia 1, autosomal recessive.
AC DI-01249
AR AGM1.
DE A primary immunodeficiency characterized by profoundly low or absent
DE serum antibodies and low or absent circulating B cells due to an early
DE block of B-cell development. Affected individuals develop severe
DE infections in the first years of life.
SY Agammaglobulinemia autosomal recessive due to IGHM defect.
DR MIM; 601495; phenotype.
DR MedGen; C1832241.
DR MedGen; C3152144.
DR MeSH; D000361.
//
ID Agammaglobulinemia 10, autosomal dominant.
AC DI-06310
AR AGM10.
DE A form of agammaglobulinemia, a primary immunodeficiency characterized
DE by profoundly low or absent serum antibodies and low or absent
DE circulating B-cells due to an early block of B-cell development.
DE Affected individuals develop severe infections in the first years of
DE life.
SY Agammaglobulinemia, autosomal dominant, due to SPI1 defect.
DR MIM; 619707; phenotype.
DR MedGen; CN306197.
DR MeSH; D000361.
//
ID Agammaglobulinemia 2, autosomal recessive.
AC DI-02888
AR AGM2.
DE A primary immunodeficiency characterized by profoundly low or absent
DE serum antibodies and low or absent circulating B cells due to an early
DE block of B-cell development. Affected individuals develop severe
DE infections in the first years of life.
SY Agammaglobulinemia autosomal recessive due to IGLL1 defect.
DR MIM; 613500; phenotype.
DR MedGen; C3150750.
DR MeSH; D000361.
//
ID Agammaglobulinemia 3, autosomal recessive.
AC DI-02873
AR AGM3.
DE A primary immunodeficiency characterized by profoundly low or absent
DE serum antibodies and low or absent circulating B-cells due to an early
DE block of B-cell development. Affected individuals develop severe
DE infections in the first years of life.
SY Agammaglobulinemia autosomal recessive due to CD79A defect.
DR MIM; 613501; phenotype.
DR MedGen; C3150751.
DR MeSH; D000361.
//
ID Agammaglobulinemia 4, autosomal recessive.
AC DI-02874
AR AGM4.
DE A primary immunodeficiency characterized by profoundly low or absent
DE serum antibodies and low or absent circulating B-cells due to an early
DE block of B-cell development. Affected individuals develop severe
DE infections in the first years of life.
SY Agammaglobulinemia autosomal recessive due to BLNK defect.
DR MIM; 613502; phenotype.
DR MedGen; C3150752.
DR MeSH; D000361.
//
ID Agammaglobulinemia 5, autosomal dominant.
AC DI-02875
AR AGM5.
DE A primary immunodeficiency characterized by profoundly low or absent
DE serum antibodies and low or absent circulating B-cells due to an early
DE block of B-cell development. Affected individuals develop severe
DE infections in the first years of life.
SY Agammaglobulinemia autosomal dominant due to LRRC8A defect.
DR MIM; 613506; phenotype.
DR MedGen; C3150753.
DR MeSH; D000361.
//
ID Agammaglobulinemia 6, autosomal recessive.
AC DI-02889
AR AGM6.
DE A primary immunodeficiency characterized by profoundly low or absent
DE serum antibodies and low or absent circulating B-cells due to an early
DE block of B-cell development. Affected individuals develop severe
DE infections in the first years of life.
SY Agammaglobulinemia autosomal recessive due to CD79B defect.
DR MIM; 612692; phenotype.
DR MedGen; C3150207.
DR MeSH; D000361.
//
ID Agammaglobulinemia 7, autosomal recessive.
AC DI-03723
AR AGM7.
DE A primary immunodeficiency characterized by profoundly low or absent
DE serum antibodies and low or absent circulating B-cells due to an early
DE block of B-cell development. Affected individuals develop severe
DE infections in the first years of life.
SY Agammaglobulinemia autosomal recessive due to PIK3R1 defect.
DR MIM; 615214; phenotype.
DR MedGen; C3554689.
DR MedGen; CN169371.
DR MeSH; D000361.
//
ID Agammaglobulinemia 8, autosomal dominant.
AC DI-04717
AR AGM8.
DE A form of agammaglobulinemia, a primary immunodeficiency characterized
DE by profoundly low or absent serum antibodies and low or absent
DE circulating B-cells due to an early block of B-cell development.
DE Affected individuals develop severe infections in the first years of
DE life.
SY Agammaglobulinemia, autosomal dominant, due to TCF3 defect.
DR MIM; 616941; phenotype.
DR MedGen; CN236422.
DR MeSH; D000361.
//
ID Agammaglobulinemia 9, autosomal recessive.
AC DI-06309
AR AGM9.
DE A form of agammaglobulinemia, a primary immunodeficiency characterized
DE by profoundly low or absent serum antibodies and low or absent
DE circulating B-cells due to an early block of B-cell development.
DE Affected individuals develop severe infections in the first years of
DE life.
SY Agammaglobulinemia, autosomal recessive, due to SLC39A7 defect.
DR MIM; 619693; phenotype.
DR MedGen; CN305778.
DR MeSH; D000361.
//
ID Agenesis of corpus callosum, cardiac, ocular, and genital syndrome.
AC DI-05864
AR ACOGS.
DE An autosomal dominant, syndromic neurodevelopmental disorder
DE characterized by global developmental delay and/or intellectual
DE disability, corpus callosum agenesis or hypoplasia, mirror movements,
DE dysmorphic features, and ocular, cardiac, and genital anomalies.
DR MIM; 618929; phenotype.
DR MedGen; CN283241.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Agenesis of the corpus callosum, with abnormal genitalia.
AC DI-01175
AR ACCAG.
DE An X-linked syndrome with variable expression in females. It is
DE characterized by agenesis of corpus callosum, intellectual disability
DE and seizures. Manifestations in surviving males include severe
DE acquired micrencephaly, intellectual disability, limb contractures,
DE scoliosis, tapered fingers with hyperconvex nails, a characteristic
DE face with large eyes, prominent supraorbital ridges, synophrys, optic
DE atrophy, broad alveolar ridges, and seizures. Urologic anomalies
DE include renal dysplasia, cryptorchidism, and hypospadias.
SY ACC with abnormal genitalia.
SY Corpus callosum, agenesis of, with abnormal genitalia.
SY Micrencephaly-corpus callosum agenesis-abnormal genitalia.
SY Proud-Levine-Carpenter syndrome.
SY Proud syndrome.
DR MIM; 300004; phenotype.
DR MedGen; C0796124.
DR MeSH; D009421.
//
ID Agenesis of the corpus callosum, with facial anomalies and cerebellar ataxia.
AC DI-04654
AR CCAFCA.
DE An autosomal recessive intellectual disability syndrome characterized
DE by congenital microcephaly, low anterior hairline, bitemporal
DE narrowing, low-set protruding ears, strabismus and tented thick
DE eyebrows with sparse hair in their medial segment.
SY Birk-Flusser syndrome.
SY Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia.
DR MIM; 616819; phenotype.
DR MedGen; CN235211.
DR MeSH; D061085.
KW KW-0991:Intellectual disability.
//
ID Agenesis of the corpus callosum, with peripheral neuropathy.
AC DI-00054
AR ACCPN.
DE A disease that is characterized by severe progressive sensorimotor
DE neuropathy, intellectual disability, dysmorphic features and complete
DE or partial agenesis of the corpus callosum.
SY Andermann's syndrome.
SY Andermann syndrome.
SY Charlevoix disease.
SY Corpus callosum, agenesis of, with neuronopathy.
SY Polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum.
DR MIM; 218000; phenotype.
DR MedGen; C0795950.
DR MeSH; D009421.
KW KW-0622:Neuropathy.
//
ID Agenesis of the corpus callosum, X-linked, partial.
AC DI-02143
AR ACCPX.
DE A syndrome characterized by partial corpus callosum agenesis,
DE hypoplasia of inferior vermis and cerebellum, intellectual disability,
DE seizures and spasticity. Other features include microcephaly, unusual
DE facies, and Hirschsprung disease in some patients.
DR MIM; 304100; phenotype.
DR MedGen; C1839909.
DR MeSH; D055673.
//
ID Agnathia-otocephaly complex.
AC DI-03217
AR AGOTC.
DE A rare condition characterized by mandibular hypoplasia or agnathia,
DE ventromedial auricular malposition (melotia) and/or auricular fusion
DE (synotia), and microstomia with oroglossal hypoplasia or aglossia.
DE Holoprosencephaly is the most commonly identified association, but
DE skeletal, genitourinary, and cardiovascular anomalies, and situs
DE inversus have been reported. The disorder is almost always lethal.
SY Dysgnathia complex agnathia-holoprosencephaly.
SY Holoprosencephaly-agnathia.
SY Otocephaly.
DR MIM; 202650; phenotype.
DR MedGen; C0265242.
DR MedGen; C1876185.
DR MeSH; D007569.
DR MeSH; D016142.
//
ID AICA-ribosuria due to ATIC deficiency.
AC DI-00065
AR AICAR.
DE A neurologically devastating inborn error of purine biosynthesis.
DE Patients excrete massive amounts of AICA-riboside in the urine and
DE accumulate AICA-ribotide and its derivatives in erythrocytes and
DE fibroblasts. Clinical features include profound intellectual
DE disability, epilepsy, dysmorphic features and congenital blindness.
DE AICAR inheritance is autosomal recessive.
SY AICA-ribosiduria due to ATIC deficiency.
SY AICAR transformylase/IMP cyclohydrolase deficiency.
SY ATIC deficiency.
DR MIM; 608688; phenotype.
DR MedGen; C1837530.
DR MeSH; D011686.
KW KW-0991:Intellectual disability.
//
ID Aicardi-Goutieres syndrome 1.
AC DI-00066
AR AGS1.
DE A form of Aicardi-Goutieres syndrome, a genetically heterogeneous
DE disease characterized by cerebral atrophy, leukoencephalopathy,
DE intracranial calcifications, chronic cerebrospinal fluid (CSF)
DE lymphocytosis, increased CSF alpha-interferon, and negative serologic
DE investigations for common prenatal infection. Clinical features as
DE thrombocytopenia, hepatosplenomegaly and elevated hepatic
DE transaminases along with intermittent fever may erroneously suggest an
DE infective process. Severe neurological dysfunctions manifest in
DE infancy as progressive microcephaly, spasticity, dystonic posturing
DE and profound psychomotor retardation. Death often occurs in early
DE childhood.
SY Autosomal dominant Aicardi-Goutieres syndrome.
SY Cree encephalitis.
SY Encephalopathy familial infantile with intracranial calcification and chronic cerebrospinal fluid lymphocytosis.
SY Pseudo-TORCH syndrome.
SY Pseudotoxoplasmosis syndrome.
DR MIM; 225750; phenotype.
DR MedGen; C0796126.
DR MedGen; C3150315.
DR MeSH; D009421.
DR MeSH; D020274.
KW KW-0948:Aicardi-Goutieres syndrome.
//
ID Aicardi-Goutieres syndrome 2.
AC DI-00067
AR AGS2.
DE A form of Aicardi-Goutieres syndrome, a genetically heterogeneous
DE disease characterized by cerebral atrophy, leukoencephalopathy,
DE intracranial calcifications, chronic cerebrospinal fluid (CSF)
DE lymphocytosis, increased CSF alpha-interferon, and negative serologic
DE investigations for common prenatal infection. Clinical features as
DE thrombocytopenia, hepatosplenomegaly and elevated hepatic
DE transaminases along with intermittent fever may erroneously suggest an
DE infective process. Severe neurological dysfunctions manifest in
DE infancy as progressive microcephaly, spasticity, dystonic posturing
DE and profound psychomotor retardation. Death often occurs in early
DE childhood.
SY Cree encephalitis.
SY Pseudo-TORCH syndrome.
DR MIM; 610181; phenotype.
DR MedGen; C3489724.
DR MedGen; CN028877.
DR MeSH; D009421.
DR MeSH; D020274.
KW KW-0948:Aicardi-Goutieres syndrome.
//
ID Aicardi-Goutieres syndrome 3.
AC DI-00068
AR AGS3.
DE A form of Aicardi-Goutieres syndrome, a genetically heterogeneous
DE disease characterized by cerebral atrophy, leukoencephalopathy,
DE intracranial calcifications, chronic cerebrospinal fluid (CSF)
DE lymphocytosis, increased CSF alpha-interferon, and negative serologic
DE investigations for common prenatal infection. Clinical features as
DE thrombocytopenia, hepatosplenomegaly and elevated hepatic
DE transaminases along with intermittent fever may erroneously suggest an
DE infective process. Severe neurological dysfunctions manifest in
DE infancy as progressive microcephaly, spasticity, dystonic posturing
DE and profound psychomotor retardation. Death often occurs in early
DE childhood.
SY Cree encephalitis.
SY Pseudo-TORCH syndrome.
DR MIM; 610329; phenotype.
DR MedGen; C1835916.
DR MeSH; D009421.
DR MeSH; D020274.
KW KW-0948:Aicardi-Goutieres syndrome.
//
ID Aicardi-Goutieres syndrome 4.
AC DI-00069
AR AGS4.
DE A form of Aicardi-Goutieres syndrome, a genetically heterogeneous
DE disease characterized by cerebral atrophy, leukoencephalopathy,
DE intracranial calcifications, chronic cerebrospinal fluid (CSF)
DE lymphocytosis, increased CSF alpha-interferon, and negative serologic
DE investigations for common prenatal infection. Clinical features as
DE thrombocytopenia, hepatosplenomegaly and elevated hepatic
DE transaminases along with intermittent fever may erroneously suggest an
DE infective process. Severe neurological dysfunctions manifest in
DE infancy as progressive microcephaly, spasticity, dystonic posturing
DE and profound psychomotor retardation. Death often occurs in early
DE childhood.
SY Cree encephalitis.
SY Pseudo-TORCH syndrome.
DR MIM; 610333; phenotype.
DR MedGen; C1835912.
DR MeSH; D009421.
DR MeSH; D020274.
KW KW-0948:Aicardi-Goutieres syndrome.
//
ID Aicardi-Goutieres syndrome 5.
AC DI-02499
AR AGS5.
DE A form of Aicardi-Goutieres syndrome, a genetically heterogeneous
DE disease characterized by cerebral atrophy, leukoencephalopathy,
DE intracranial calcifications, chronic cerebrospinal fluid (CSF)
DE lymphocytosis, increased CSF alpha-interferon, and negative serologic
DE investigations for common prenatal infection. Clinical features as
DE thrombocytopenia, hepatosplenomegaly and elevated hepatic
DE transaminases along with intermittent fever may erroneously suggest an
DE infective process. Severe neurological dysfunctions manifest in
DE infancy as progressive microcephaly, spasticity, dystonic posturing
DE and profound psychomotor retardation. Death often occurs in early
DE childhood.
SY Cree encephalitis.
SY Pseudo-TORCH syndrome.
DR MIM; 612952; phenotype.
DR MedGen; C2749659.
DR MeSH; D009421.
DR MeSH; D020274.
KW KW-0948:Aicardi-Goutieres syndrome.
//
ID Aicardi-Goutieres syndrome 6.
AC DI-03668
AR AGS6.
DE A form of Aicardi-Goutieres syndrome, a genetically heterogeneous
DE disease characterized by cerebral atrophy, leukoencephalopathy,
DE intracranial calcifications, chronic cerebrospinal fluid (CSF)
DE lymphocytosis, increased CSF alpha-interferon, and negative serologic
DE investigations for common prenatal infection. Clinical features as
DE thrombocytopenia, hepatosplenomegaly and elevated hepatic
DE transaminases along with intermittent fever may erroneously suggest an
DE infective process. Severe neurological dysfunctions manifest in
DE infancy as progressive microcephaly, spasticity, dystonic posturing
DE and profound psychomotor retardation. Death often occurs in early
DE childhood.
SY Cree encephalitis.
SY Pseudo-TORCH syndrome.
DR MIM; 615010; phenotype.
DR MedGen; C3539013.
DR MedGen; CN164367.
DR MeSH; D009421.
DR MeSH; D020274.
KW KW-0948:Aicardi-Goutieres syndrome.
//
ID Aicardi-Goutieres syndrome 7.
AC DI-04126
AR AGS7.
DE A form of Aicardi-Goutieres syndrome, a genetically heterogeneous
DE disease characterized by cerebral atrophy, leukoencephalopathy,
DE intracranial calcifications, chronic cerebrospinal fluid (CSF)
DE lymphocytosis, increased CSF alpha-interferon, and negative serologic
DE investigations for common prenatal infection. Clinical features as
DE thrombocytopenia, hepatosplenomegaly and elevated hepatic
DE transaminases along with intermittent fever may erroneously suggest an
DE infective process. Severe neurological dysfunctions manifest in
DE infancy as progressive microcephaly, spasticity, dystonic posturing
DE and profound psychomotor retardation. Death often occurs in early
DE childhood.
DR MIM; 615846; phenotype.
DR MedGen; CN188935.
DR MeSH; D009421.
DR MeSH; D020274.
KW KW-0948:Aicardi-Goutieres syndrome.
//
ID Aicardi-Goutieres syndrome 8.
AC DI-06175
AR AGS8.
DE A form of Aicardi-Goutieres syndrome, a genetically heterogeneous
DE disease characterized by cerebral atrophy, leukoencephalopathy,
DE intracranial calcifications, chronic cerebrospinal fluid (CSF)
DE lymphocytosis, increased CSF alpha-interferon, and negative serologic
DE investigations for common prenatal infection. Clinical features as
DE thrombocytopenia, hepatosplenomegaly and elevated hepatic
DE transaminases along with intermittent fever may erroneously suggest an
DE infective process. Severe neurological dysfunctions manifest in
DE infancy as progressive microcephaly, spasticity, dystonic posturing
DE and profound psychomotor retardation. Death often occurs in early
DE childhood. AGS8 inheritance is autosomal recessive.
DR MIM; 619486; phenotype.
DR MedGen; CN300345.
DR MeSH; D009421.
DR MeSH; D020274.
KW KW-0948:Aicardi-Goutieres syndrome.
//
ID Al Kaissi syndrome.
AC DI-05093
AR ALKAS.
DE An autosomal recessive developmental disorder characterized by growth
DE retardation, spine malformation, facial dysmorphisms, and
DE developmental delay.
SY Growth retardation, spine malformation, dysmorphic facies, and developmental delay.
DR MIM; 617694; phenotype.
DR MedGen; CN502749.
DR MeSH; D000015.
//
ID Al-Gazali syndrome.
AC DI-05819
AR ALGAZ.
DE A severe disorder characterized by prenatal growth retardation, large
DE joints contractures, camptodactyly, bilateral talipes equinovarus,
DE small mouth, anterior segment anomalies of the eyes, and early
DE lethality. The transmission pattern of the disorder is consistent with
DE autosomal recessive inheritance.
DR MIM; 609465; phenotype.
DR MedGen; C1836121.
DR MeSH; D000015.
//
ID Al-Gazali-Bakalinova syndrome.
AC DI-04658
AR AGBK.
DE An autosomal recessive syndrome consisting of macrocephaly, multiple
DE epiphyseal dysplasia and distinctive facial appearance.
SY Macrocephaly with multiple epiphyseal dysplasia and distinctive facies.
SY MMEDF.
DR MIM; 607131; phenotype.
DR MedGen; C1846722.
DR MeSH; D010009.
DR MeSH; D019465.
//
ID Al-Raqad syndrome.
AC DI-04480
AR ARS.
DE A syndrome characterized by delayed psychomotor development, moderate
DE to severe intellectual disability, poor or absent speech,
DE microcephaly, congenital hypotonia, and severe growth delay.
DR MIM; 616459; phenotype.
DR MedGen; CN231448.
DR MeSH; D000015.
KW KW-0991:Intellectual disability.
//
ID Alacrima, achalasia, and intellectual disability syndrome.
AC DI-03937
AR AAMR.
DE An autosomal recessive disorder characterized by onset of alacrima,
DE achalasia, and intellectual disability at birth or in early infancy.
DE More variable features include hypotonia, gait abnormalities,
DE anisocoria, and visual or hearing deficits. The disorder shows
DE similarity to the triple A syndrome, but patients with AAMR do not
DE have adrenal insufficiency.
DR MIM; 615510; phenotype.
DR MedGen; C3809738.
DR MedGen; CN181208.
DR MeSH; D004931.
DR MeSH; D007766.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Alagille syndrome 1.
AC DI-00071
AR ALGS1.
DE A form of Alagille syndrome, an autosomal dominant multisystem
DE disorder. It is clinically defined by hepatic bile duct paucity and
DE cholestasis in association with cardiac, skeletal, and ophthalmologic
DE manifestations. There are characteristic facial features and less
DE frequent clinical involvement of the renal and vascular systems.
SY Alagille syndrome.
SY Alagille-Watson syndrome.
SY ALGS.
SY AWS.
SY Cholestasis with peripheral pulmonary stenosis.
DR MIM; 118450; phenotype.
DR MedGen; C0085280.
DR MedGen; C1956125.
DR MedGen; C2930797.
DR MeSH; D016738.
//
ID Alagille syndrome 2.
AC DI-00072
AR ALGS2.
DE A form of Alagille syndrome, an autosomal dominant multisystem
DE disorder. It is clinically defined by hepatic bile duct paucity and
DE cholestasis in association with cardiac, skeletal, and ophthalmologic
DE manifestations. There are characteristic facial features and less
DE frequent clinical involvement of the renal and vascular systems.
SY Alagille-Watson syndrome.
SY ALGS.
SY AWS.
SY Cholestasis with peripheral pulmonary stenosis.
DR MIM; 610205; phenotype.
DR MedGen; C1857761.
DR MeSH; D016738.
//
ID Alazami syndrome.
AC DI-03653
AR ALAZS.
DE A syndromic form of primordial dwarfism, a condition characterized by
DE severe growth restriction that has its onset in utero, and results in
DE short stature and undersize. ALAZS patients manifest severe
DE intellectual disability and distinct facial features including malar
DE hypoplasia, deep-set eyes, broad nose, short philtrum, and
DE macrostomia. Some patients have non-specific and inconsistent skeletal
DE findings, for example, scoliosis and mild epiphyseal changes in the
DE proximal phalanges, but no frank dysplasia.
SY Facial dysmorphism intellectual disability and primordial dwarfism.
DR MIM; 615071; phenotype.
DR MedGen; C3554439.
DR MedGen; CN165475.
DR MeSH; D004392.
DR MeSH; D008607.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
//
ID Alazami-Yuan syndrome.
AC DI-04825
AR ALYUS.
DE An autosomal recessive syndrome reminiscent of Cornelia de Lange
DE syndrome and characterized by delayed psychomotor development with
DE intellectual disability, hypotonia, microcephaly, short stature, poor
DE speech, and dysmorphic features.
DR MIM; 617126; phenotype.
DR MedGen; CN238513.
DR MeSH; D000015.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Albinism ocular 1.
AC DI-02082
AR OA1.
DE Form of albinism affecting only the eye. Pigment of the hair and skin
DE is normal or only slightly diluted. Eyes may be severely affected with
DE photophobia and reduced visual acuity. Nystagmus or strabismus are
DE often associated. The irides and fundus are depigmented.
SY Nettleship-Falls type ocular albinism.
SY OA-1.
DR MIM; 300500; phenotype.
DR MedGen; C0342684.
DR MeSH; D016117.
KW KW-0015:Albinism.
//
ID Albinism, oculocutaneous, 1A.
AC DI-02088
AR OCA1A.
DE An autosomal recessive disorder in which the biosynthesis of melanin
DE pigment is absent in skin, hair, and eyes. It is characterized by
DE complete lack of tyrosinase activity due to production of an inactive
DE enzyme. Patients present with a life-long absence of melanin pigment
DE after birth, and manifest increased sensitivity to ultraviolet
DE radiation with predisposition to skin cancer. Visual anomalies include
DE decreased acuity, nystagmus, strabismus and photophobia.
SY Albinism I.
SY Albinism oculocutaneous IA.
SY ATN.
SY OCA-1A.
SY OCA-IA.
SY Oculocutaneous albinism tyrosinase negative.
DR MIM; 203100; phenotype.
DR MedGen; C0268494.
DR MeSH; D016115.
KW KW-0015:Albinism.
//
ID Albinism, oculocutaneous, 1B.
AC DI-02089
AR OCA1B.
DE An autosomal recessive disorder in which the biosynthesis of melanin
DE pigment is reduced in skin, hair, and eyes. It is characterized by
DE partial lack of tyrosinase activity. Patients have white hair at birth
DE that rapidly turns yellow or blond. They manifest the development of
DE minimal-to-moderate amounts of cutaneous and ocular pigment. Some
DE patients may have with white hair in the warmer areas (scalp and
DE axilla) and progressively darker hair in the cooler areas
DE (extremities). This variant phenotype is due to a loss of tyrosinase
DE activity above 35-37 degrees C.
SY Albinism yellow mutant type.
SY OCA-IB.
SY OCA-ITS.
SY Oculocutaneous albinism type IB.
SY Oculocutaneous albinism type I temperature-sensitive.
SY Yellow albinism.
DR MIM; 606952; phenotype.
DR MedGen; C1847024.
DR MedGen; C1847132.
DR MeSH; D016115.
KW KW-0015:Albinism.
//
ID Albinism, oculocutaneous, 2.
AC DI-02085
AR OCA2.
DE An autosomal recessive disorder in which the biosynthesis of melanin
DE pigment is reduced in skin, hair, and eyes. Although affected infants
DE may appear at birth to have complete absence of melanin pigment, most
DE patients acquire small amounts of pigment with age. Visual anomalies
DE include decreased acuity and nystagmus. The phenotype is highly
DE variable. The hair of affected individuals may turn darker with age,
DE and pigmented nevi or freckles may be seen. African and African
DE American individuals may have yellow hair and blue-gray or hazel
DE irides. One phenotypic variant, 'brown OCA,' has been described in
DE African and African American populations and is characterized by light
DE brown hair and skin color and gray to tan irides.
SY Albinism II.
SY BOCA.
SY Brown oculocutaneous albinism.
SY OCA-2.
SY Oculocutaneous albinism type II.
SY Oculocutaneous albinism tyrosinase-positive.
DR MIM; 203200; phenotype.
DR MedGen; C0268495.
DR MedGen; C0268497.
DR MeSH; D016115.
KW KW-0015:Albinism.
//
ID Albinism, oculocutaneous, 3.
AC DI-02090
AR OCA3.
DE An autosomal recessive disorder in which the biosynthesis of melanin
DE pigment is reduced in skin, hair, and eyes. Tyrosinase activity is
DE normal and patients have only moderate reduction of pigment. The eyes
DE present red reflex on transillumination of the iris, dilution of color
DE of iris, nystagmus and strabismus. Darker-skinned individuals have
DE bright copper-red coloration of the skin and hair.
SY Albinism III.
SY OCA-III.
SY Oculocutaneous albinism type III.
SY ROCA.
SY Rufous oculocutaneous albinism.
SY Xanthism.
DR MIM; 203290; phenotype.
DR MedGen; C0342683.
DR MedGen; C1859932.
DR MeSH; D016115.
KW KW-0015:Albinism.
//
ID Albinism, oculocutaneous, 4.
AC DI-02086
AR OCA4.
DE A disorder of pigmentation characterized by reduced biosynthesis of
DE melanin in the skin, hair and eyes. Patients show reduced or lacking
DE pigmentation associated with classic albinism ocular abnormalities,
DE including decreased visual acuity, macular hypoplasia, optic
DE dysplasia, atypical choroidal vessels, and nystagmus.
SY Oculocutaneous albinism type IV.
DR MIM; 606574; phenotype.
DR MedGen; C1847836.
DR MeSH; D016115.
KW KW-0015:Albinism.
//
ID Albinism, oculocutaneous, 6.
AC DI-03840
AR OCA6.
DE A disorder characterized by a reduction or complete loss of melanin in
DE the skin, hair and eyes. Patients show reduced or lacking pigmentation
DE often accompanied by eye symptoms such as photophobia, strabismus,
DE moderate to severe visual impairment, and nystagmus.
SY Oculocutaneous albinism type VI.
DR MIM; 113750; phenotype.
DR MedGen; C2676042.
DR MedGen; C3805375.
DR MedGen; CN178543.
DR MeSH; D016115.
KW KW-0015:Albinism.
//
ID Albinism, oculocutaneous, 7.
AC DI-03749
AR OCA7.
DE A disorder of pigmentation characterized by reduced biosynthesis of
DE melanin in the skin, hair and eyes. Patients show reduced or lacking
DE pigmentation associated with classic albinism ocular abnormalities,
DE including decreased visual acuity, macular hypoplasia, optic
DE dysplasia, atypical choroidal vessels, and nystagmus.
SY Oculocutaneous albinism type VII.
DR MIM; 615179; phenotype.
DR MedGen; C3554632.
DR MedGen; CN169528.
DR MeSH; D016115.
KW KW-0015:Albinism.
//
ID Albinism, oculocutaneous, 8.
AC DI-06011
AR OCA8.
DE A form of oculocutaneous albinism, a disorder of pigmentation
DE characterized by reduced biosynthesis of melanin in the skin, hair and
DE eyes. OCA8 is an autosomal recessive form characterized by mild hair
DE and skin hypopigmentation, associated with ocular features including
DE nystagmus, reduced visual acuity, iris transillumination, and
DE hypopigmentation of the retina.
SY Oculocutaneous albinism, type VIII.
DR MIM; 619165; phenotype.
DR MedGen; CN295224.
DR MeSH; D016115.
KW KW-0015:Albinism.
//
ID Albright hereditary osteodystrophy.
AC DI-00073
AR AHO.
DE A disorder characterized by short stature, obesity, round facies,
DE brachydactyly and subcutaneous calcification. It is often associated
DE with pseudohypoparathyoidism, hypocalcemia and elevated PTH levels.
DR MIM; 103580; phenotype.
DR MeSH; D011547.
KW KW-0242:Dwarfism.
KW KW-0550:Obesity.
//
ID Alexander disease.
AC DI-00074
AR ALXDRD.
DE A rare disorder of the central nervous system. The most common form
DE affects infants and young children, and is characterized by
DE progressive failure of central myelination, usually leading to death
DE within the first decade. Infants with Alexander disease develop a
DE leukodystrophy with macrocephaly, seizures, and psychomotor
DE retardation. Patients with juvenile or adult forms typically
DE experience ataxia, bulbar signs and spasticity, and a more slowly
DE progressive course. Histologically, Alexander disease is characterized
DE by Rosenthal fibers, homogeneous eosinophilic inclusions in
DE astrocytes.
SY Alexander's disease.
DR MIM; 203450; phenotype.
DR MedGen; C0270726.
DR MeSH; D038261.
KW KW-1026:Leukodystrophy.
//
ID Alkaptonuria.
AC DI-00077
AR AKU.
DE An autosomal recessive error of metabolism characterized by an
DE increase in the level of homogentisic acid. The clinical
DE manifestations are urine that turns dark on standing and
DE alkalinization, black ochronotic pigmentation of cartilage and
DE collagenous tissues, and spine arthritis.
SY Homogentisic acid oxidase deficiency.
DR MIM; 203500; phenotype.
DR MedGen; C0002066.
DR MeSH; D000474.
//
ID Alkuraya-Kucinskas syndrome.
AC DI-05169
AR ALKKUCS.
DE An autosomal recessive syndrome characterized by brain atrophy and
DE arthrogryposis. Patients present with cerebral parenchymal
DE underdevelopment, lissencephaly, severe to mild ventriculomegaly, and
DE cerebellar hypoplasia with brainstem dysgenesis. Most affected
DE individuals die in utero or soon after birth. The few patients who
DE survive have variable intellectual disability and may have seizures.
DE Facial dysmorphism, cardiac and ophthalmologic anomalies, such as
DE microphthalmia and cataract, are additional features.
DR MIM; 617822; phenotype.
DR MedGen; CN737163.
DR MeSH; D001176.
DR MeSH; D009421.
//
ID Allergic rhinitis.
AC DI-02868
AR ALRH.
DE A common disease with complex inheritance characterized by mucosal
DE inflammation caused by allergen exposure.
DR MIM; 607154; phenotype.
DR MedGen; C2607914.
DR MeSH; D006255.
DR MeSH; D012221.
//
ID Alopecia universalis congenita.
AC DI-00078
AR ALUNC.
DE A rare disorder characterized by loss of hair from the entire body. No
DE hair are present in hair follicles on skin biopsy.
SY Alopecia universalis.
SY Atrichia generalized.
DR MIM; 203655; phenotype.
DR MedGen; C1859877.
DR MeSH; D000505.
KW KW-1063:Hypotrichosis.
//
ID Alopecia, neurologic defects, and endocrinopathy syndrome.
AC DI-01178
AR ANES.
DE Affected individuals have hair loss of variable severity, ranging from
DE complete alopecia to near-normal scalp hair with absence of body hair.
DE All have moderate to severe intellectual disability, progressive motor
DE deterioration and central hypogonadotropic hypogonadism with delayed
DE or absent puberty and central adrenal insufficiency. Additional
DE features included short stature, microcephaly, gynecomastia,
DE pigmentary anomalies, hypodontia, kyphoscoliosis, ulnar deviation of
DE the hands, and loss of subcutaneous fat.
SY Alopecia-progressive neurological defect-endocrinopathy.
SY ANE syndrome.
DR MIM; 612079; phenotype.
DR MedGen; C2677535.
DR MeSH; D000505.
DR MeSH; D004700.
DR MeSH; D009422.
KW KW-0991:Intellectual disability.
KW KW-1063:Hypotrichosis.
//
ID Alopecia-intellectual disability syndrome 1.
AC DI-05180
AR APMR1.
DE A rare autosomal recessive form of alopecia. APMR1 patients show loss
DE of hair on the scalp, absence of eyebrows, eyelashes, axillary and
DE pubic hair, and mild to severe intellectual disability.
SY Alopecia with severe intellectual deficit.
SY AMR syndrome.
SY AMR syndrome 1.
DR MIM; 203650; phenotype.
DR MedGen; C1859878.
DR MeSH; D000505.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
KW KW-1063:Hypotrichosis.
//
ID Alopecia-intellectual disability syndrome 4.
AC DI-05812
AR APMR4.
DE An autosomal recessive disorder characterized by alopecia universalis,
DE scaly skin, mild to severe intellectual disability, delayed or absent
DE speech, and motor delay.
DR MIM; 618840; phenotype.
DR MedGen; CN272916.
DR MeSH; D000505.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
KW KW-1063:Hypotrichosis.
//
ID Alpha-1-antitrypsin deficiency.
AC DI-02928
AR A1ATD.
DE A disorder whose most common manifestation is emphysema, which becomes
DE evident by the third to fourth decade. A less common manifestation of
DE the deficiency is liver disease, which occurs in children and adults,
DE and may result in cirrhosis and liver failure. Environmental factors,
DE particularly cigarette smoking, greatly increase the risk of emphysema
DE at an earlier age.
DR MIM; 613490; phenotype.
DR MedGen; C0221757.
DR MeSH; D019896.
//
ID Alpha-2-plasmin inhibitor deficiency.
AC DI-00075
AR APLID.
DE An autosomal recessive disorder resulting in severe hemorrhagic
DE diathesis.
SY Antiplasmin deficiency.
SY Plasmin inhibitor deficiency.
DR MIM; 262850; phenotype.
DR MedGen; C2752081.
DR MeSH; D006474.
//
ID Alpha-aminoadipic and alpha-ketoadipic aciduria.
AC DI-03673
AR AAKAD.
DE An autosomal recessive metabolic disorder characterized by increased
DE levels of 2-oxoadipate and 2-hydroxyadipate in the urine, and elevated
DE 2-aminoadipate in the plasma. Patients can have mild to severe
DE intellectual disability, muscular hypotonia, developmental delay,
DE ataxia, and epilepsy. Most cases are asymptomatic.
SY 2-aminoadipic 2-oxoadipic aciduria.
SY 2-ketoadipic aciduria.
SY AMOXAD.
DR MIM; 204750; phenotype.
DR MedGen; C1859817.
DR MeSH; D000592.
//
ID Alpha-fetoprotein deficiency.
AC DI-04204
AR AFPD.
DE A benign condition characterized by undetectable AFP levels in the
DE amniotic fluid. Affected individuals are asymptomatic and present
DE normal development.
DR MIM; 615969; phenotype.
DR MedGen; C1863081.
DR MeSH; D008661.
//
ID Alpha-fetoprotein, hereditary persistence.
AC DI-04205
AR HPAFP.
DE A benign autosomal dominant condition characterized by continued
DE expression of alpha-fetoprotein in adult life.
DR MIM; 615970; phenotype.
DR MedGen; C1863080.
DR MeSH; D008661.
//
ID Alpha-methylacyl-CoA racemase deficiency.
AC DI-00076
AR AMACRD.
DE A rare autosomal recessive peroxisomal disorder characterized by
DE elevated plasma concentrations of pristanic acid C27-bile-acid
DE intermediates, and adult onset of variable neurodegenerative symptoms
DE affecting the central and peripheral nervous systems. Features may
DE include seizures, visual failure, sensorimotor neuropathy, spasticity,
DE migraine, and white matter hyperintensities on brain imaging.
SY AMACR deficiency.
DR MIM; 614307; phenotype.
DR MedGen; C1858325.
DR MedGen; C3280428.
DR MeSH; D018901.
//
ID Alpha-thalassemia.
AC DI-01181
AR A-THAL.
DE A form of thalassemia. Thalassemias are common monogenic diseases
DE occurring mostly in Mediterranean and Southeast Asian populations. The
DE hallmark of alpha-thalassemia is an imbalance in globin-chain
DE production in the adult HbA molecule. The level of alpha chain
DE production can range from none to very nearly normal levels. Deletion
DE of both copies of each of the two alpha-globin genes causes alpha(0)-
DE thalassemia, also known as homozygous alpha thalassemia. Due to the
DE complete absence of alpha chains, the predominant fetal hemoglobin is
DE a tetramer of gamma-chains (Bart hemoglobin) that has essentially no
DE oxygen carrying capacity. This causes oxygen starvation in the fetal
DE tissues leading to prenatal lethality or early neonatal death. The
DE loss of two alpha genes results in mild alpha-thalassemia, also known
DE as heterozygous alpha-thalassemia. Affected individuals have small red
DE cells and a mild anemia (microcytosis). If three of the four alpha-
DE globin genes are functional, individuals are completely asymptomatic.
DE Some rare forms of alpha-thalassemia are due to point mutations (non-
DE deletional alpha-thalassemia).
DR MIM; 604131; phenotype.
DR MedGen; C0002312.
DR MeSH; D017085.
KW KW-0360:Hereditary hemolytic anemia.
//
ID Alpha-thalassemia myelodysplasia syndrome.
AC DI-01180
AR ATMDS.
DE A disorder characterized by hypochromic, microcytic red blood cells,
DE hemoglobin H detected in peripheral blood, and multilineage
DE myelodysplasia.
SY Acquired alpha-thalassemia with myelodysplastic syndrome.
SY Hemoglobin H disease acquired.
DR MIM; 300448; phenotype.
DR MedGen; C0585216.
DR MeSH; D009190.
DR MeSH; D017085.
//
ID Alpha-thalassemia/intellectual disability syndrome, X-linked.
AC DI-02428
AR ATRX.
DE A disorder characterized by severe psychomotor retardation, facial
DE dysmorphism, urogenital abnormalities, and alpha-thalassemia. An
DE essential phenotypic trait are hemoglobin H erythrocyte inclusions.
SY ATR nondeletion type.
SY ATR-X.
SY ATR-X syndrome.
DR MIM; 301040; phenotype.
DR MedGen; C1845055.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Alpha/beta T-cell lymphopenia, with gamma/delta T-cell expansion, severe cytomegalovirus infection and autoimmunity.
AC DI-01182
AR T-CMVA.
DE An immunological disorder characterized by oligoclonal expansion of
DE TCR gamma/delta T-cells, TCR alpha/beta T-cell lymphopenia, severe,
DE disseminated cytomegalovirus infection and autoimmune cytopenia.
DR MIM; 609889; phenotype.
DR MedGen; C1835931.
DR MeSH; D008231.
DR MeSH; D015551.
//
ID Alport syndrome 1, X-linked.
AC DI-00082
AR ATS1.
DE A syndrome that is characterized by progressive glomerulonephritis,
DE renal failure, sensorineural deafness, specific eye abnormalities
DE (lenticonous and macular flecks), and glomerular basement membrane
DE defects. The disorder shows considerable heterogeneity in that
DE families differ in the age of end-stage renal disease and the
DE occurrence of deafness.
SY Nephritis-deafness syndrome, X-linked.
SY Nephropathy and deafness, X-linked.
DR MIM; 301050; phenotype.
DR MedGen; C0403444.
DR MedGen; C1567742.
DR MeSH; D009394.
KW KW-0023:Alport syndrome.
KW KW-0209:Deafness.
//
ID Alport syndrome 2, autosomal recessive.
AC DI-00080
AR ATS2.
DE A syndrome characterized by progressive glomerulonephritis, glomerular
DE basement membrane defects, renal failure, sensorineural deafness and
DE specific eye abnormalities (lenticonous and macular flecks). The
DE disorder shows considerable heterogeneity in that families differ in
DE the age of end-stage renal disease and the occurrence of deafness.
DR MIM; 203780; phenotype.
DR MedGen; C1567744.
DR MeSH; D009394.
KW KW-0023:Alport syndrome.
KW KW-0209:Deafness.
//
ID Alport syndrome 3, autosomal dominant.
AC DI-02831
AR ATS3.
DE A syndrome characterized by progressive glomerulonephritis, glomerular
DE basement membrane defects, renal failure, sensorineural deafness and
DE specific eye abnormalities (lenticonous and macular flecks). The
DE disorder shows considerable heterogeneity in that families differ in
DE the age of end-stage renal disease and the occurrence of deafness.
SY Nephritis-deafness syndrome.
SY Nephropathy and deafness.
DR MIM; 104200; phenotype.
DR MedGen; C1567743.
DR MeSH; D009394.
KW KW-0023:Alport syndrome.
KW KW-0209:Deafness.
//
ID Alstrom syndrome.
AC DI-00083
AR ALMS.
DE A rare autosomal recessive disorder characterized by progressive cone-
DE rod retinal dystrophy, neurosensory hearing loss, early childhood
DE obesity and diabetes mellitus type 2. Dilated cardiomyopathy,
DE acanthosis nigricans, male hypogonadism, hypothyroidism, developmental
DE delay and hepatic dysfunction can also be associated with the
DE syndrome.
SY Alstroem syndrome.
DR MIM; 203800; phenotype.
DR MedGen; C0268425.
DR MeSH; D056769.
KW KW-0182:Cone-rod dystrophy.
KW KW-0209:Deafness.
KW KW-0219:Diabetes mellitus.
KW KW-0550:Obesity.
KW KW-1186:Ciliopathy.
//
ID Alternating hemiplegia of childhood 1.
AC DI-00084
AR AHC1.
DE A rare syndrome of episodic hemi- or quadriplegia lasting minutes to
DE days. Most cases are accompanied by dystonic posturing, choreoathetoid
DE movements, nystagmus, other ocular motor abnormalities, autonomic
DE disturbances, and progressive cognitive impairment. It is typically
DE distinguished from familial hemiplegic migraine by infantile onset and
DE high prevalence of associated neurological deficits that become
DE increasingly obvious with age.
DR MIM; 104290; phenotype.
DR MedGen; C0338488.
DR MedGen; C3549447.
DR MeSH; D006429.
//
ID Alternating hemiplegia of childhood 2.
AC DI-03527
AR AHC2.
DE A rare syndrome of episodic hemi- or quadriplegia lasting minutes to
DE days. Most cases are accompanied by dystonic posturing, choreoathetoid
DE movements, nystagmus, other ocular motor abnormalities, autonomic
DE disturbances, and progressive cognitive impairment. It is typically
DE distinguished from familial hemiplegic migraine by infantile onset and
DE high prevalence of associated neurological deficits that become
DE increasingly obvious with age.
DR MIM; 614820; phenotype.
DR MedGen; C3553788.
DR MedGen; CN143722.
DR MeSH; D006429.
//
ID Alveolar capillary dysplasia with misalignment of pulmonary veins.
AC DI-02714
AR ACDMPV.
DE A rare developmental disorder characterized by abnormal development of
DE the capillary vascular system in the lungs. Histological features
DE include failure of formation and ingrowth of alveolar capillaries,
DE medial muscular thickening of small pulmonary arterioles with
DE muscularization of the intraacinar arterioles, thickened alveolar
DE walls, and anomalously situated pulmonary veins running alongside
DE pulmonary arterioles and sharing the same adventitial sheath. Less
DE common features include a reduced number of alveoli and a patchy
DE distribution of the histopathologic changes. Affected infants present
DE with respiratory distress and the disease is fatal within the newborn
DE period. Additional features include multiple congenital anomalies
DE affecting the cardiovascular, gastrointestinal, genitourinary, and
DE musculoskeletal systems, as well as disruption of the normal right-
DE left asymmetry of intrathoracic or intraabdominal organs. ACDMPV is a
DE rare cause of persistent pulmonary hypertension of the newborn, an
DE abnormal physiologic state caused by failure of transition of the
DE pulmonary circulation from the high pulmonary vascular resistance of
DE the fetus to the low pulmonary vascular resistance of the newborn.
SY ACD.
SY Alveolar capillary dysplasia.
SY Alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies.
DR MIM; 265380; phenotype.
DR MedGen; C0031190.
DR MeSH; D010547.
//
ID Alzahrani-Kuwahara syndrome.
AC DI-06078
AR ALKUS.
DE An autosomal recessive disorder characterized by severe global
DE developmental delay, impaired intellectual function, poor or absent
DE speech, microcephaly, and facial dysmorphism. Additional variable
DE features include early-onset cataracts, hypotonia, lower limb
DE spasticity, and congenital heart malformations.
SY Neurodevelopmental disorder with dysmorphic facies and cataracts.
DR MIM; 619268; phenotype.
DR MedGen; CN296411.
DR MeSH; D065886.
KW KW-0898:Cataract.
KW KW-0991:Intellectual disability.
//
ID Alzheimer disease.
AC DI-03832
AR AD.
DE Alzheimer disease is a neurodegenerative disorder characterized by
DE progressive dementia, loss of cognitive abilities, and deposition of
DE fibrillar amyloid proteins as intraneuronal neurofibrillary tangles,
DE extracellular amyloid plaques and vascular amyloid deposits. The major
DE constituents of these plaques are neurotoxic amyloid-beta protein 40
DE and amyloid-beta protein 42, that are produced by the proteolysis of
DE the transmembrane APP protein. The cytotoxic C-terminal fragments
DE (CTFs) and the caspase-cleaved products, such as C31, are also
DE implicated in neuronal death.
SY Presenile and senile dementia.
DR MIM; 104300; phenotype.
DR MedGen; C0002395.
DR MedGen; C1541844.
DR MedGen; C1863053.
DR MedGen; C3549448.
DR MeSH; D000544.
KW KW-0026:Alzheimer disease.
KW KW-0523:Neurodegeneration.
KW KW-1008:Amyloidosis.
//
ID Alzheimer disease 1.
AC DI-00085
AR AD1.
DE A familial early-onset form of Alzheimer disease. It can be associated
DE with cerebral amyloid angiopathy. Alzheimer disease is a
DE neurodegenerative disorder characterized by progressive dementia, loss
DE of cognitive abilities, and deposition of fibrillar amyloid proteins
DE as intraneuronal neurofibrillary tangles, extracellular amyloid
DE plaques and vascular amyloid deposits. The major constituents of these
DE plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta
DE protein 42, that are produced by the proteolysis of the transmembrane
DE APP protein. The cytotoxic C-terminal fragments (CTFs) and the
DE caspase-cleaved products, such as C31, are also implicated in neuronal
DE death.
SY Autosomal dominant Alzheimer disease.
SY Early-onset Alzheimer disease with cerebral amyloid angiopathy.
DR MIM; 104300; phenotype.
DR MedGen; C1863052.
DR MeSH; D000544.
KW KW-0026:Alzheimer disease.
KW KW-0523:Neurodegeneration.
KW KW-1008:Amyloidosis.
//
ID Alzheimer disease 18.
AC DI-04003
AR AD18.
DE A late-onset form of Alzheimer disease. Alzheimer disease is a
DE neurodegenerative disorder characterized by progressive dementia, loss
DE of cognitive abilities, and deposition of fibrillar amyloid proteins
DE as intraneuronal neurofibrillary tangles, extracellular amyloid
DE plaques and vascular amyloid deposits. The major constituents of these
DE plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta
DE protein 42, that are produced by the proteolysis of the transmembrane
DE APP protein. The cytotoxic C-terminal fragments (CTFs) and the
DE caspase-cleaved products, such as C31, are also implicated in neuronal
DE death.
SY Alzheimer disease 18 late-onset.
DR MIM; 615590; phenotype.
DR MedGen; C3810041.
DR MedGen; CN183072.
DR MeSH; D000544.
KW KW-0026:Alzheimer disease.
KW KW-0523:Neurodegeneration.
KW KW-1008:Amyloidosis.
//
ID Alzheimer disease 19.
AC DI-04047
AR AD19.
DE A late-onset form of Alzheimer disease. Alzheimer disease is a
DE neurodegenerative disorder characterized by progressive dementia, loss
DE of cognitive abilities, and deposition of fibrillar amyloid proteins
DE as intraneuronal neurofibrillary tangles, extracellular amyloid
DE plaques and vascular amyloid deposits. The major constituents of these
DE plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta
DE protein 42, that are produced by the proteolysis of the transmembrane
DE APP protein. The cytotoxic C-terminal fragments (CTFs) and the
DE caspase-cleaved products, such as C31, are also implicated in neuronal
DE death.
SY Late-onset Alzheimer disease.
DR MIM; 615711; phenotype.
DR MedGen; C3810349.
DR MedGen; CN185377.
DR MeSH; D000544.
KW KW-0026:Alzheimer disease.
KW KW-0523:Neurodegeneration.
KW KW-1008:Amyloidosis.
//
ID Alzheimer disease 2.
AC DI-02694
AR AD2.
DE A late-onset form of Alzheimer disease. Alzheimer disease is a
DE neurodegenerative disorder characterized by progressive dementia, loss
DE of cognitive abilities, and deposition of fibrillar amyloid proteins
DE as intraneuronal neurofibrillary tangles, extracellular amyloid
DE plaques and vascular amyloid deposits. The major constituents of these
DE plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta
DE protein 42, that are produced by the proteolysis of the transmembrane
DE APP protein. The cytotoxic C-terminal fragments (CTFs) and the
DE caspase-cleaved products, such as C31, are also implicated in neuronal
DE death.
SY Alzheimer disease associated with APOE4.
SY Late-onset Alzheimer disease.
DR MIM; 104310; phenotype.
DR MedGen; C1863051.
DR MeSH; D000544.
KW KW-0026:Alzheimer disease.
KW KW-0523:Neurodegeneration.
KW KW-1008:Amyloidosis.
//
ID Alzheimer disease 3.
AC DI-00086
AR AD3.
DE A familial early-onset form of Alzheimer disease. Alzheimer disease is
DE a neurodegenerative disorder characterized by progressive dementia,
DE loss of cognitive abilities, and deposition of fibrillar amyloid
DE proteins as intraneuronal neurofibrillary tangles, extracellular
DE amyloid plaques and vascular amyloid deposits. The major constituents
DE of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-
DE beta protein 42, that are produced by the proteolysis of the
DE transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs)
DE and the caspase-cleaved products, such as C31, are also implicated in
DE neuronal death.
SY Early-onset familial Alzheimer disease 3.
SY Familial Alzheimer disease 3.
SY Familial Alzheimer disease 3 with spastic paraparesis and apraxia.
SY Familial Alzheimer disease 3 with spastic paraparesis and unusual plaques.
DR MIM; 607822; phenotype.
DR MedGen; C1843013.
DR MedGen; C1843014.
DR MedGen; C1843015.
DR MeSH; D000544.
KW KW-0026:Alzheimer disease.
KW KW-0523:Neurodegeneration.
KW KW-1008:Amyloidosis.
//
ID Alzheimer disease 4.
AC DI-00087
AR AD4.
DE A familial early-onset form of Alzheimer disease. Alzheimer disease is
DE a neurodegenerative disorder characterized by progressive dementia,
DE loss of cognitive abilities, and deposition of fibrillar amyloid
DE proteins as intraneuronal neurofibrillary tangles, extracellular
DE amyloid plaques and vascular amyloid deposits. The major constituents
DE of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-
DE beta protein 42, that are produced by the proteolysis of the
DE transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs)
DE and the caspase-cleaved products, such as C31, are also implicated in
DE neuronal death.
DR MIM; 606889; phenotype.
DR MedGen; C1847200.
DR MeSH; D000544.
KW KW-0026:Alzheimer disease.
KW KW-0523:Neurodegeneration.
KW KW-1008:Amyloidosis.
//
ID Alzheimer disease 9.
AC DI-04711
AR AD9.
DE A familial, late-onset form of Alzheimer disease. Alzheimer disease is
DE a neurodegenerative disorder characterized by progressive dementia,
DE loss of cognitive abilities, and deposition of fibrillar amyloid
DE proteins as intraneuronal neurofibrillary tangles, extracellular
DE amyloid plaques and vascular amyloid deposits. The major constituents
DE of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-
DE beta protein 42, that are produced by the proteolysis of the
DE transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs)
DE and the caspase-cleaved products, such as C31, are also implicated in
DE neuronal death.
DR MIM; 608907; phenotype.
DR MedGen; C1837149.
DR MeSH; D000544.
KW KW-0026:Alzheimer disease.
KW KW-0523:Neurodegeneration.
KW KW-1008:Amyloidosis.
//
ID Alzheimer disease mitochondrial.
AC DI-02761
AR AD-MT.
DE Alzheimer disease is a neurodegenerative disorder characterized by
DE progressive dementia, loss of cognitive abilities, and deposition of
DE fibrillar amyloid proteins as intraneuronal neurofibrillary tangles,
DE extracellular amyloid plaques and vascular amyloid deposits. The major
DE constituents of these plaques are neurotoxic amyloid-beta protein 40
DE and amyloid-beta protein 42, that are produced by the proteolysis of
DE the transmembrane APP protein. The cytotoxic C-terminal fragments
DE (CTFs) and the caspase-cleaved products, such as C31, are also
DE implicated in neuronal death.
DR MIM; 502500; phenotype.
DR MedGen; C1838990.
DR MeSH; D000544.
KW KW-0026:Alzheimer disease.
KW KW-0523:Neurodegeneration.
KW KW-1008:Amyloidosis.
//
ID AMED syndrome, digenic.
AC DI-06008
AR AMEDS.
DE A form of bone marrow failure syndrome, a heterogeneous group of life-
DE threatening disorders characterized by hematopoietic defects in
DE association with a range of variable extra-hematopoietic
DE manifestations. AMEDS is an autosomal recessive, digenic form
DE characterized by childhood onset of bone marrow failure resulting in
DE aplastic anemia, in association with global developmental delay,
DE intellectual disability, and poor overall growth with short stature.
SY BMFS7.
SY Bone marrow failure syndrome 7, digenic.
DR MIM; 619151; phenotype.
DR MedGen; CN295213.
DR MeSH; D000080983.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
//
ID Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome.
AC DI-05747
AR PAPPAS.
DE An autosomal recessive, lethal embryonic syndrome characterized by
DE absent hindlimbs, pulmonary hypoplasia, severely hypoplastic or absent
DE pelvic bones, hypoplasia of the sacrum, and ambiguous genitalia.
DR MIM; 601360; phenotype.
DR MedGen; C1832432.
DR MeSH; D004480.
//
ID Amelogenesis imperfecta 1A.
AC DI-04344
AR AI1A.
DE A form of amelogenesis imperfecta, a disorder characterized by
DE defective enamel formation. The enamel may be hypoplastic,
DE hypomineralized or both, and affected teeth may be discoloured,
DE sensitive or prone to disintegration.
SY Amelogenesis imperfecta, hypoplastic type IA.
SY Amelogenesis imperfecta type IA.
DR MIM; 104530; phenotype.
DR MedGen; C0399367.
DR MeSH; D000567.
KW KW-0986:Amelogenesis imperfecta.
//
ID Amelogenesis imperfecta 1B.
AC DI-00089
AR AI1B.
DE An autosomal dominant defect of enamel formation. Clinical
DE manifestations may be variable. Some cases present with generalized
DE enamel hypoplasia resulting in small, smooth, yellow and widely spaced
DE teeth (smooth hypoplastic AI). Others show horizontal rows of pits,
DE grooves or a hypoplastic area in the enamel (local hypoplastic AI).
SY AIH2.
SY Amelogenesis imperfecta hypoplastic 2.
SY Amelogenesis imperfecta hypoplastic local autosomal dominant.
SY Amelogenesis imperfecta type IB.
SY Hereditary localized enamel hypoplasia.
DR MIM; 104500; phenotype.
DR MedGen; C0399368.
DR MeSH; D000567.
KW KW-0986:Amelogenesis imperfecta.
//
ID Amelogenesis imperfecta 1C.
AC DI-00090
AR AI1C.
DE An autosomal recessive defect of dental enamel formation. Teeth show
DE local hypoplastic and unmineralized enamel, and a yellow-brown
DE discoloration. Enamel defects can be associated with facial and oral
DE features including vertical dysgnathia and anterior openbite
DE malocclusion.
SY Amelogenesis imperfecta hypoplastic with or without openbite malocclusion autosomal recessive.
SY Amelogenesis imperfecta local hypoplastic type autosomal recessive.
SY Amelogenesis imperfecta type IC.
DR MIM; 204650; phenotype.
DR MedGen; C2673923.
DR MeSH; D000567.
KW KW-0986:Amelogenesis imperfecta.
//
ID Amelogenesis imperfecta 1E.
AC DI-00088
AR AI1E.
DE An X-linked defect of dental enamel formation. Teeth have only a thin
DE layer of enamel with normal hardness. The thinness of the enamel makes
DE the teeth appear small.
SY AIH1.
SY Amelogenesis imperfecta, hypoplastic/hypomaturation type 1E.
SY Amelogenesis imperfecta hypomaturation type with snow-capped teeth.
SY Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1.
SY Amelogenesis imperfecta type IE.
SY Enamel hypoplasia X-linked.
SY XAI.
SY X-linked amelogenesis imperfecta.
DR MIM; 301200; phenotype.
DR MedGen; C1845052.
DR MedGen; C1845053.
DR MeSH; D000567.
KW KW-0986:Amelogenesis imperfecta.
//
ID Amelogenesis imperfecta 1F.
AC DI-04358
AR AI1F.
DE A form of amelogenesis imperfecta, a disorder characterized by
DE defective enamel formation. The enamel may be hypoplastic,
DE hypomineralized or both, and affected teeth may be discoloured,
DE sensitive or prone to disintegration. AI1F is characterized by
DE hypoplastic enamel of the primary and secondary dentition.
SY Amelogenesis imperfecta, hypoplastic type IF.
SY Amelogenesis imperfecta type IF.
DR MIM; 616270; phenotype.
DR MedGen; CN228593.
DR MeSH; D000567.
KW KW-0986:Amelogenesis imperfecta.
//
ID Amelogenesis imperfecta 1G.
AC DI-04208
AR AI1G.
DE A disorder characterized by dental anomalies, gingival overgrowth, and
DE nephrocalcinosis. Dental anomalies include hypoplastic amelogenesis
DE imperfecta, intrapulpal calcifications, delay of tooth eruption,
DE hypodontia/oligodontia, pericoronal radiolucencies and unerupted
DE teeth.
SY AIGFS.
SY Amelogenesis imperfecta and gingival fibromatosis syndrome.
SY Enamel-renal-gingival syndrome.
SY Enamel-renal syndrome.
SY ERS.
SY Hypoplastic amelogenesis imperfecta with nephrocalcinosis.
DR MIM; 204690; phenotype.
DR MedGen; C2931783.
DR MeSH; D000567.
DR MeSH; D005351.
KW KW-0986:Amelogenesis imperfecta.
//
ID Amelogenesis imperfecta 1H.
AC DI-04338
AR AI1H.
DE A disorder characterized by defective enamel formation, resulting in
DE hypoplastic and hypomineralized tooth enamel that may be rough,
DE pitted, and/or discolored.
SY Amelogenesis imperfecta, type 1H.
DR MIM; 616221; phenotype.
DR MedGen; CN225925.
DR MeSH; D000567.
KW KW-0986:Amelogenesis imperfecta.
//
ID Amelogenesis imperfecta 1J.
AC DI-04931
AR AI1J.
DE A form of amelogenesis imperfecta, a disorder characterized by
DE defective enamel formation. The enamel may be hypoplastic,
DE hypomineralized or both, and affected teeth may be discoloured,
DE sensitive or prone to disintegration. AI1J is an autosomal recessive
DE form characterized by hypoplastic enamel, enamel discolorization
DE ranging from yellow to black, and normal dentin.
DR MIM; 617297; phenotype.
DR MedGen; CN239948.
DR MeSH; D000567.
KW KW-0986:Amelogenesis imperfecta.
//
ID Amelogenesis imperfecta 3A.
AC DI-00093
AR AI3A.
DE An autosomal dominant hypomineralized form of amelogenesis imperfecta,
DE a defect of enamel formation. AI3A is characterized by enamel of
DE normal thickness but soft and with cheesy consistency. Enamel is lost
DE from tooth soon after eruption.
SY ADHCAI.
SY Amelogenesis imperfecta hypocalcification type autosomal dominant.
SY Amelogenesis imperfecta hypomineralization type.
SY Amelogenesis imperfecta type III.
DR MIM; 130900; phenotype.
DR MedGen; C0399376.
DR MeSH; D000567.
KW KW-0986:Amelogenesis imperfecta.
//
ID Amelogenesis imperfecta 3B.
AC DI-05066
AR AI3B.
DE An autosomal dominant form of amelogenesis imperfecta, a defect of
DE enamel formation. AI3B is characterized by hypomineralized enamel that
DE has reduced tickness and exhibits structural defects.
SY Amelogenesis imperfecta, type IIIB.
DR MIM; 617607; phenotype.
DR MedGen; CN373594.
DR MeSH; D000567.
KW KW-0986:Amelogenesis imperfecta.
//
ID Amelogenesis imperfecta 3C.
AC DI-05533
AR AI3C.
DE An autosomal recessive form of amelogenesis imperfecta, a defect of
DE enamel formation. AI3C is characterized by generalized enamel
DE hypocalcification affecting primary and secondary dentition. The
DE surface of the enamel is rough and often stained. After eruption, the
DE occlusal enamel on the molars disappears due to attrition, leaving a
DE ring of intact enamel remaining on the sides.
SY Amelogenesis imperfecta, hypocalcification type, autosomal recessive.
SY Amelogenesis imperfecta, type IIIC.
DR MIM; 618386; phenotype.
DR MedGen; CN258278.
DR MeSH; D000567.
KW KW-0986:Amelogenesis imperfecta.
//
ID Amelogenesis imperfecta 4.
AC DI-00094
AR AI4.
DE An autosomal dominant defect of enamel formation associated with
DE enlarged pulp chambers. Enamel is thin, teeth are small and widely
DE spaced.
SY AIHHT.
SY AIT.
SY Amelogenesis imperfecta 2 hypocalcification type.
SY Amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism.
SY Amelogenesis imperfecta hypomineralization type.
SY Amelogenesis imperfecta type IV.
SY Amelogenesis imperfecta with taurodontism.
DR MIM; 104510; phenotype.
DR MedGen; C1863012.
DR MeSH; D000567.
KW KW-0986:Amelogenesis imperfecta.
//
ID Amelogenesis imperfecta, hypomaturation type, 2A1.
AC DI-00091
AR AI2A1.
DE A defect of enamel formation. The disorder involves both primary and
DE secondary dentitions. The teeth have a shiny agar jelly appearance and
DE the enamel is softer than normal. Brown pigment is present in middle
DE layers of enamel.
SY AIPH.
SY Amelogenesis imperfecta 2 hypocalcification type.
SY Amelogenesis imperfecta hypomineralization type.
SY Amelogenesis imperfecta pigmented hypomaturation type 1.
DR MIM; 204700; phenotype.
DR MedGen; C2673922.
DR MeSH; D000567.
KW KW-0986:Amelogenesis imperfecta.
//
ID Amelogenesis imperfecta, hypomaturation type, 2A2.
AC DI-00092
AR AI2A2.
DE A defect of enamel formation. The disorder involves both primary and
DE secondary dentitions. The teeth have a shiny agar jelly appearance and
DE the enamel is softer than normal. Brown pigment is present in middle
DE layers of enamel.
SY Amelogenesis imperfecta 2 hypocalcification type.
SY Amelogenesis imperfecta pigmented hypomaturation type 2.
DR MIM; 612529; phenotype.
DR MedGen; C2675858.
DR MeSH; D000567.
KW KW-0986:Amelogenesis imperfecta.
//
ID Amelogenesis imperfecta, hypomaturation type, 2A3.
AC DI-02570
AR AI2A3.
DE A defect of enamel formation. The disorder involves both primary and
DE secondary dentitions. The teeth have a shiny agar jelly appearance and
DE the enamel is softer than normal. Brown pigment is present in middle
DE layers of enamel.
SY Amelogenesis imperfecta hypomaturation type IIA3.
DR MIM; 613211; phenotype.
DR MedGen; C2750771.
DR MeSH; D000567.
KW KW-0986:Amelogenesis imperfecta.
//
ID Amelogenesis imperfecta, hypomaturation type, 2A4.
AC DI-03537
AR AI2A4.
DE A defect of enamel formation. The disorder involves both primary and
DE secondary dentitions. The teeth have a shiny agar jelly appearance and
DE the enamel is softer than normal. Brown pigment is present in middle
DE layers of enamel.
SY Amelogenesis imperfecta pigmented hypomaturation type IIA4.
DR MIM; 614832; phenotype.
DR MedGen; C3553830.
DR MedGen; CN143956.
DR MeSH; D000567.
KW KW-0986:Amelogenesis imperfecta.
//
ID Amelogenesis imperfecta, hypomaturation type, 2A5.
AC DI-04153
AR AI2A5.
DE A defect of enamel formation. The disorder involves both primary and
DE secondary dentitions. The teeth have a shiny agar jelly appearance and
DE the enamel is softer than normal. Brown pigment is present in middle
DE layers of enamel.
DR MIM; 615887; phenotype.
DR MedGen; CN191988.
DR MeSH; D000567.
KW KW-0986:Amelogenesis imperfecta.
//
ID Amelogenesis imperfecta, hypomaturation type, 2A6.
AC DI-04871
AR AI2A6.
DE A defect of enamel formation. The disorder involves both primary and
DE secondary dentitions. The teeth have a shiny agar jelly appearance and
DE the enamel is softer than normal. Brown pigment is present in middle
DE layers of enamel.
SY Amelogenesis imperfecta, hypomaturation type, IIA6.
DR MIM; 617217; phenotype.
DR MedGen; CN239111.
DR MeSH; D000567.
KW KW-0986:Amelogenesis imperfecta.
//
ID Aminoacylase-1 deficiency.
AC DI-00095
AR ACY1D.
DE An enzymatic deficiency resulting in encephalopathy, unspecific
DE psychomotor delay, psychomotor delay with atrophy of the vermis and
DE syringomyelia, marked muscular hypotonia or normal clinical features.
DE Epileptic seizures are a frequent feature. All affected individuals
DE exhibit markedly increased urinary excretion of several N-acetylated
DE amino acids.
SY Encephalopathy associated with aminoacylase 1 deficiency.
DR MIM; 609924; phenotype.
DR MedGen; C1835922.
DR MeSH; D000592.
//
ID AMME complex.
AC DI-01183
AR ATS-MR.
DE An X-linked contiguous gene deletion syndrome characterized by
DE glomerulonephritis, sensorineural hearing loss, intellectual
DE disability, midface hypoplasia and elliptocytosis.
SY Alport syndrome with intellectual disability, midface hypoplasia and elliptocytosis.
DR MIM; 300194; phenotype.
DR MedGen; C1846242.
DR MeSH; D009394.
KW KW-0023:Alport syndrome.
KW KW-0209:Deafness.
KW KW-0250:Elliptocytosis.
KW KW-0991:Intellectual disability.
//
ID Amyloidosis 5.
AC DI-00101
AR AMYL5.
DE A hereditary generalized amyloidosis due to gelsolin amyloid
DE deposition. It is typically characterized by cranial neuropathy and
DE lattice corneal dystrophy. Most patients have modest involvement of
DE internal organs, but severe systemic disease can develop in some
DE individuals causing peripheral polyneuropathy, amyloid cardiomyopathy,
DE and nephrotic syndrome leading to renal failure.
SY AGel.
SY Amyloid cranial neuropathy with lattice corneal dystrophy.
SY Amyloidosis due to mutant gelsolin.
SY Amyloidosis V.
SY Familial amyloidosis Finnish type.
SY Familial amyloid polyneuropathy type IV.
SY Finnish type amyloidosis.
SY Gelsolin amyloidosis.
SY Lattice corneal dystrophy type II.
SY Meretoja type amyloidosis.
DR MIM; 105120; phenotype.
DR MedGen; C1622345.
DR MedGen; C1628319.
DR MedGen; C2751493.
DR MeSH; D028226.
KW KW-1008:Amyloidosis.
KW KW-1212:Corneal dystrophy.
//
ID Amyloidosis 6.
AC DI-00102
AR AMYL6.
DE A hereditary generalized amyloidosis due to cystatin C amyloid
DE deposition. Cystatin C amyloid accumulates in the walls of arteries,
DE arterioles, and sometimes capillaries and veins of the brain, and in
DE various organs including lymphoid tissue, spleen, salivary glands, and
DE seminal vesicles. Amyloid deposition in the cerebral vessels results
DE in cerebral amyloid angiopathy, cerebral hemorrhage and premature
DE stroke. Cystatin C levels in the cerebrospinal fluid are abnormally
DE low.
SY ACys.
SY CAA.
SY Cerebral amyloid angiopathy.
SY Cerebral amyloid angiopathy CST3-related.
SY Cerebroarterial amyloidosis Icelandic type.
SY Cystatin C amyloidosis.
SY HCCAA.
SY HCHWA.
SY HCHWAI.
SY HCHWA-I.
SY Hereditary cerebral hemorrhage with amyloidosis.
SY Hereditary cerebral hemorrhage with amyloidosis Icelandic type.
SY Hereditary cystatin C amyloid angiopathy.
DR MIM; 105150; phenotype.
DR MedGen; C0085220.
DR MedGen; C1510489.
DR MedGen; C1527338.
DR MeSH; D028243.
KW KW-1008:Amyloidosis.
//
ID Amyloidosis 8.
AC DI-00104
AR AMYL8.
DE A form of hereditary generalized amyloidosis. Clinical features
DE include extensive visceral amyloid deposits, renal amyloidosis
DE resulting in nephrotic syndrome, arterial hypertension,
DE hepatosplenomegaly, cholestasis, petechial skin rash. There is no
DE involvement of the nervous system.
SY Amyloidosis VIII.
SY Familial amyloid nephropathy.
SY Familial renal amyloidosis.
SY Familial visceral amyloidosis.
SY German type amyloidosis.
SY Ostertag type amyloidosis.
SY Systemic non-neuropathic amyloidosis.
DR MIM; 105200; phenotype.
DR MedGen; C0268389.
DR MeSH; D028226.
KW KW-1008:Amyloidosis.
//
ID Amyloidosis, primary localized cutaneous, 1.
AC DI-00105
AR PLCA1.
DE A primary amyloidosis characterized by localized cutaneous amyloid
DE deposition. This condition usually presents with itching (especially
DE on the lower legs) and visible changes of skin hyperpigmentation and
DE thickening that may be exacerbated by chronic scratching and rubbing.
DE Primary localized cutaneous amyloidosis is often divided into macular
DE and lichen subtypes although many affected individuals often show both
DE variants coexisting. Lichen amyloidosis characteristically presents as
DE a pruritic eruption of grouped hyperkeratotic papules with a
DE predilection for the shins, calves, ankles and dorsa of feet and
DE thighs. Papules may coalesce to form hyperkeratotic plaques that can
DE resemble lichen planus, lichen simplex or nodular prurigo. Macular
DE amyloidosis is characterized by small pigmented macules that may merge
DE to produce macular hyperpigmentation, sometimes with a reticulate or
DE rippled pattern. In macular and lichen amyloidosis, amyloid is
DE deposited in the papillary dermis in association with grouped colloid
DE bodies, thought to represent degenerate basal keratinocytes. The
DE amyloid deposits probably reflect a combination of degenerate keratin
DE filaments, serum amyloid P component, and deposition of
DE immunoglobulins.
SY Amyloidosis IX.
SY Amyloidosis type 9.
SY Familial lichen amyloidosis.
SY PCA.
SY PLCA.
SY Primary cutaneous amyloidosis.
SY Primary localized cutaneous amyloidosis.
DR MIM; 105250; phenotype.
DR MedGen; C0268397.
DR MedGen; C0268398.
DR MeSH; D028226.
KW KW-1008:Amyloidosis.
//
ID Amyloidosis, primary localized cutaneous, 2.
AC DI-03102
AR PLCA2.
DE A primary amyloidosis characterized by localized cutaneous amyloid
DE deposition. This condition usually presents with itching (especially
DE on the lower legs) and visible changes of skin hyperpigmentation and
DE thickening that may be exacerbated by chronic scratching and rubbing.
DE Primary localized cutaneous amyloidosis is often divided into macular
DE and lichen subtypes although many affected individuals often show both
DE variants coexisting. Lichen amyloidosis characteristically presents as
DE a pruritic eruption of grouped hyperkeratotic papules with a
DE predilection for the shins, calves, ankles and dorsa of feet and
DE thighs. Papules may coalesce to form hyperkeratotic plaques that can
DE resemble lichen planus, lichen simplex or nodular prurigo. Macular
DE amyloidosis is characterized by small pigmented macules that may merge
DE to produce macular hyperpigmentation, sometimes with a reticulate or
DE rippled pattern. In macular and lichen amyloidosis, amyloid is
DE deposited in the papillary dermis in association with grouped colloid
DE bodies, thought to represent degenerate basal keratinocytes. The
DE amyloid deposits probably reflect a combination of degenerate keratin
DE filaments, serum amyloid P component, and deposition of
DE immunoglobulins.
DR MIM; 613955; phenotype.
DR MedGen; C3151404.
DR MeSH; D028226.
KW KW-1008:Amyloidosis.
//
ID Amyloidosis, primary localized cutaneous, 3.
AC DI-05216
AR PLCA3.
DE A primary amyloidosis characterized by localized cutaneous amyloid
DE deposition. This condition usually presents with itching (especially
DE on the lower legs) and visible changes of skin hyperpigmentation and
DE thickening that may be exacerbated by chronic scratching and rubbing.
DE Primary localized cutaneous amyloidosis is often divided into macular
DE and lichen subtypes although many affected individuals often show both
DE variants coexisting. Lichen amyloidosis characteristically presents as
DE a pruritic eruption of grouped hyperkeratotic papules with a
DE predilection for the shins, calves, ankles and dorsa of feet and
DE thighs. Papules may coalesce to form hyperkeratotic plaques that can
DE resemble lichen planus, lichen simplex or nodular prurigo. Macular
DE amyloidosis is characterized by small pigmented macules that may merge
DE to produce macular hyperpigmentation, sometimes with a reticulate or
DE rippled pattern. In macular and lichen amyloidosis, amyloid is
DE deposited in the papillary dermis in association with grouped colloid
DE bodies, thought to represent degenerate basal keratinocytes. The
DE amyloid deposits probably reflect a combination of degenerate keratin
DE filaments, serum amyloid P component, and deposition of
DE immunoglobulins. PLCA3 inheritance is autosomal recessive.
SY ACD.
SY Amyloidosis cutis dyschromica.
DR MIM; 617920; phenotype.
DR MedGen; CN895592.
DR MeSH; D028226.
KW KW-1008:Amyloidosis.
//
ID Amyloidosis, transthyretin-related.
AC DI-00100
AR AMYL-TTR.
DE A hereditary generalized amyloidosis due to transthyretin amyloid
DE deposition. Protein fibrils can form in different tissues leading to
DE amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel
DE syndrome, systemic senile amyloidosis. The disease includes
DE leptomeningeal amyloidosis that is characterized by primary
DE involvement of the central nervous system. Neuropathologic examination
DE shows amyloid in the walls of leptomeningeal vessels, in pia
DE arachnoid, and subpial deposits. Some patients also develop vitreous
DE amyloid deposition that leads to visual impairment
DE (oculoleptomeningeal amyloidosis). Clinical features include seizures,
DE stroke-like episodes, dementia, psychomotor deterioration, variable
DE amyloid deposition in the vitreous humor.
SY Amyloidosis I.
SY Amyloidosis Ohio type.
SY Amyloidosis type 7.
SY Amyloidosis VII.
SY Amyloid polyneuropathy.
SY ATTR.
SY Familial amyloid polyneuropathy.
SY Familial amyloid polyneuropathy type I.
SY Familial amyloid polyneuropathy type II.
SY FAP.
SY Hereditary amyloidosis transthyretin-related.
SY Leptomeningeal amyloidosis.
SY Meningocerebrovascular amyloidosis.
SY Oculoleptomeningeal amyloidosis.
SY Transthyretin amyloid neuropathy.
SY Transthyretin amyloidosis.
SY Transthyretin amyloid polyneuropathy.
SY TTR amyloid neuropathy.
DR MIM; 105210; phenotype.
DR MedGen; C0342609.
DR MedGen; C2751492.
DR MedGen; C3151470.
DR MedGen; C3151471.
DR MeSH; D028226.
KW KW-1008:Amyloidosis.
//
ID Amyotrophic lateral sclerosis.
AC DI-00107
AR ALS.
DE A neurodegenerative disorder affecting upper motor neurons in the
DE brain and lower motor neurons in the brain stem and spinal cord,
DE resulting in fatal paralysis. Sensory abnormalities are absent. The
DE pathologic hallmarks of the disease include pallor of the
DE corticospinal tract due to loss of motor neurons, presence of
DE ubiquitin-positive inclusions within surviving motor neurons, and
DE deposition of pathologic aggregates. The etiology of amyotrophic
DE lateral sclerosis is likely to be multifactorial, involving both
DE genetic and environmental factors. The disease is inherited in 5-10%
DE of the cases.
SY Charcot disease.
SY Lou Gehrig disease.
SY MND.
SY Motor neuron disease.
DR MIM; 105400; phenotype.
DR MedGen; C1862940.
DR MedGen; C1862941.
DR MeSH; D000690.
KW KW-0036:Amyotrophic lateral sclerosis.
//
ID Amyotrophic lateral sclerosis 1.
AC DI-00108
AR ALS1.
DE A neurodegenerative disorder affecting upper motor neurons in the
DE brain and lower motor neurons in the brain stem and spinal cord,
DE resulting in fatal paralysis. Sensory abnormalities are absent. The
DE pathologic hallmarks of the disease include pallor of the
DE corticospinal tract due to loss of motor neurons, presence of
DE ubiquitin-positive inclusions within surviving motor neurons, and
DE deposition of pathologic aggregates. The etiology of amyotrophic
DE lateral sclerosis is likely to be multifactorial, involving both
DE genetic and environmental factors. The disease is inherited in 5-10%
DE of the cases.
SY FALS.
SY Familial amyotrophic lateral sclerosis.
SY Lou Gehrig disease.
DR MIM; 105400; phenotype.
DR MedGen; C1862939.
DR MedGen; C3542025.
DR MeSH; D000690.
KW KW-0036:Amyotrophic lateral sclerosis.
//
ID Amyotrophic lateral sclerosis 10.
AC DI-00114
AR ALS10.
DE A neurodegenerative disorder affecting upper motor neurons in the
DE brain and lower motor neurons in the brain stem and spinal cord,
DE resulting in fatal paralysis. Sensory abnormalities are absent. The
DE pathologic hallmarks of the disease include pallor of the
DE corticospinal tract due to loss of motor neurons, presence of
DE ubiquitin-positive inclusions within surviving motor neurons, and
DE deposition of pathologic aggregates. The etiology of amyotrophic
DE lateral sclerosis is likely to be multifactorial, involving both
DE genetic and environmental factors. The disease is inherited in 5-10%
DE of the cases.
SY Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia and with TDP43 inclusions.
DR MIM; 612069; phenotype.
DR MedGen; C2677565.
DR MedGen; C3150169.
DR MedGen; C3150170.
DR MedGen; C3150171.
DR MeSH; D000690.
KW KW-0036:Amyotrophic lateral sclerosis.
//
ID Amyotrophic lateral sclerosis 11.
AC DI-00115
AR ALS11.
DE A neurodegenerative disorder affecting upper motor neurons in the
DE brain and lower motor neurons in the brain stem and spinal cord,
DE resulting in fatal paralysis. Sensory abnormalities are absent. The
DE pathologic hallmarks of the disease include pallor of the
DE corticospinal tract due to loss of motor neurons, presence of
DE ubiquitin-positive inclusions within surviving motor neurons, and
DE deposition of pathologic aggregates. The etiology of amyotrophic
DE lateral sclerosis is likely to be multifactorial, involving both
DE genetic and environmental factors. The disease is inherited in 5-10%
DE of the cases.
DR MIM; 612577; phenotype.
DR MedGen; C2675491.
DR MeSH; D000690.
KW KW-0036:Amyotrophic lateral sclerosis.
//
ID Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia.
AC DI-02705
AR ALS12.
DE A form of amyotrophic lateral sclerosis, a neurodegenerative disorder
DE affecting upper motor neurons in the brain and lower motor neurons in
DE the brain stem and spinal cord, resulting in fatal paralysis. Sensory
DE abnormalities are absent. The pathologic hallmarks of the disease
DE include pallor of the corticospinal tract due to loss of motor
DE neurons, presence of ubiquitin-positive inclusions within surviving
DE motor neurons, and deposition of pathologic aggregates. The etiology
DE of amyotrophic lateral sclerosis is likely to be multifactorial,
DE involving both genetic and environmental factors. The disease is
DE inherited in 5-10% of the cases. ALS12 inheritance can be autosomal
DE dominant or autosomal recessive. There is also sporadic occurrence.
DE ALS12 patients may develop frontotemporal dementia.
DR MIM; 613435; phenotype.
DR MedGen; C3150692.
DR MeSH; D000690.
DR MeSH; D057180.
KW KW-0036:Amyotrophic lateral sclerosis.
//
ID Amyotrophic lateral sclerosis 13.
AC DI-02859
AR ALS13.
DE A neurodegenerative disorder affecting upper motor neurons in the
DE brain and lower motor neurons in the brain stem and spinal cord,
DE resulting in fatal paralysis. Sensory abnormalities are absent. The
DE pathologic hallmarks of the disease include pallor of the
DE corticospinal tract due to loss of motor neurons, presence of
DE ubiquitin-positive inclusions within surviving motor neurons, and
DE deposition of pathologic aggregates. The etiology of amyotrophic
DE lateral sclerosis is likely to be multifactorial, involving both
DE genetic and environmental factors. The disease is inherited in 5-10%
DE of the cases.
DR MIM; 183090; phenotype.
DR MedGen; C3149907.
DR MeSH; D000690.
KW KW-0036:Amyotrophic lateral sclerosis.
//
ID Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia.
AC DI-03271
AR ALS15.
DE A neurodegenerative disorder affecting upper motor neurons in the
DE brain and lower motor neurons in the brain stem and spinal cord,
DE resulting in fatal paralysis. Sensory abnormalities are absent. The
DE pathologic hallmarks of the disease include pallor of the
DE corticospinal tract due to loss of motor neurons, presence of
DE ubiquitin-positive inclusions within surviving motor neurons, and
DE deposition of pathologic aggregates. The etiology of amyotrophic
DE lateral sclerosis is likely to be multifactorial, involving both
DE genetic and environmental factors. The disease is inherited in 5-10%
DE of the cases. Patients with ALS15 may develop frontotemporal dementia.
DR MIM; 300857; phenotype.
DR MedGen; C3275459.
DR MeSH; D000690.
KW KW-0036:Amyotrophic lateral sclerosis.
//
ID Amyotrophic lateral sclerosis 16, juvenile.
AC DI-03324
AR ALS16.
DE A neurodegenerative disorder affecting upper motor neurons in the
DE brain and lower motor neurons in the brain stem and spinal cord,
DE resulting in fatal paralysis. Sensory abnormalities are absent. The
DE pathologic hallmarks of the disease include pallor of the
DE corticospinal tract due to loss of motor neurons, presence of
DE ubiquitin-positive inclusions within surviving motor neurons, and
DE deposition of pathologic aggregates. The etiology of amyotrophic
DE lateral sclerosis is likely to be multifactorial, involving both
DE genetic and environmental factors. The disease is inherited in 5-10%
DE of the cases.
DR MIM; 614373; phenotype.
DR MedGen; C3280587.
DR MeSH; D000690.
KW KW-0036:Amyotrophic lateral sclerosis.
//
ID Amyotrophic lateral sclerosis 18.
AC DI-03520
AR ALS18.
DE A neurodegenerative disorder affecting upper motor neurons in the
DE brain and lower motor neurons in the brain stem and spinal cord,
DE resulting in fatal paralysis. Sensory abnormalities are absent. The
DE pathologic hallmarks of the disease include pallor of the
DE corticospinal tract due to loss of motor neurons, presence of
DE ubiquitin-positive inclusions within surviving motor neurons, and
DE deposition of pathologic aggregates. The etiology of amyotrophic
DE lateral sclerosis is likely to be multifactorial, involving both
DE genetic and environmental factors. The disease is inherited in 5-10%
DE of the cases.
DR MIM; 614808; phenotype.
DR MedGen; C3553719.
DR MedGen; CN143708.
DR MeSH; D000690.
KW KW-0036:Amyotrophic lateral sclerosis.
//
ID Amyotrophic lateral sclerosis 19.
AC DI-03940
AR ALS19.
DE A neurodegenerative disorder affecting upper motor neurons in the
DE brain and lower motor neurons in the brain stem and spinal cord,
DE resulting in fatal paralysis. Sensory abnormalities are absent. The
DE pathologic hallmarks of the disease include pallor of the
DE corticospinal tract due to loss of motor neurons, presence of
DE ubiquitin-positive inclusions within surviving motor neurons, and
DE deposition of pathologic aggregates. The etiology of amyotrophic
DE lateral sclerosis is likely to be multifactorial, involving both
DE genetic and environmental factors. The disease is inherited in 5-10%
DE of the cases.
DR MIM; 615515; phenotype.
DR MedGen; C3715155.
DR MedGen; CN181216.
DR MeSH; D000690.
KW KW-0036:Amyotrophic lateral sclerosis.
//
ID Amyotrophic lateral sclerosis 2.
AC DI-00109
AR ALS2.
DE A neurodegenerative disorder affecting upper motor neurons in the
DE brain and lower motor neurons in the brain stem and spinal cord,
DE resulting in fatal paralysis. Sensory abnormalities are absent. The
DE pathologic hallmarks of the disease include pallor of the
DE corticospinal tract due to loss of motor neurons, presence of
DE ubiquitin-positive inclusions within surviving motor neurons, and
DE deposition of pathologic aggregates. The etiology of amyotrophic
DE lateral sclerosis is likely to be multifactorial, involving both
DE genetic and environmental factors. The disease is inherited in 5-10%
DE of the cases.
SY ALSJ.
SY Amyotrophic lateral sclerosis juvenile.
SY Amyotrophic lateral sclerosis juvenile 2.
DR MIM; 205100; phenotype.
DR MedGen; C1859807.
DR MeSH; D000690.
KW KW-0036:Amyotrophic lateral sclerosis.
//
ID Amyotrophic lateral sclerosis 20.
AC DI-03881
AR ALS20.
DE A neurodegenerative disorder affecting upper motor neurons in the
DE brain and lower motor neurons in the brain stem and spinal cord,
DE resulting in fatal paralysis. Sensory abnormalities are absent. The
DE pathologic hallmarks of the disease include pallor of the
DE corticospinal tract due to loss of motor neurons, presence of
DE ubiquitin-positive inclusions within surviving motor neurons, and
DE deposition of pathologic aggregates. The etiology of amyotrophic
DE lateral sclerosis is likely to be multifactorial, involving both
DE genetic and environmental factors. The disease is inherited in 5-10%
DE of the cases.
DR MIM; 615426; phenotype.
DR MedGen; C3715156.
DR MedGen; CN180156.
DR MeSH; D000690.
KW KW-0036:Amyotrophic lateral sclerosis.
//
ID Amyotrophic lateral sclerosis 21.
AC DI-02625
AR ALS21.
DE A neurodegenerative disorder affecting upper and lower motor neurons,
DE resulting in muscle weakness and respiratory failure. Some patients
DE may develop myopathic features or dementia.
SY Distal myopathy 2.
SY Distal myopathy with vocal cord weakness.
SY MPD2.
SY MSP5.
SY Multisystem proteinopathy 5.
SY VCPDM.
SY Vocal cord and pharyngeal dysfunction with distal myopathy.
DR MIM; 606070; phenotype.
DR MedGen; C1853723.
DR MeSH; D000690.
KW KW-0036:Amyotrophic lateral sclerosis.
//
ID Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia.
AC DI-04318
AR ALS22.
DE A neurodegenerative disorder affecting upper motor neurons in the
DE brain and lower motor neurons in the brain stem and spinal cord,
DE resulting in fatal paralysis. Sensory abnormalities are absent. The
DE pathologic hallmarks of the disease include pallor of the
DE corticospinal tract due to loss of motor neurons, presence of
DE ubiquitin-positive inclusions within surviving motor neurons, and
DE deposition of pathologic aggregates. The etiology of amyotrophic
DE lateral sclerosis is likely to be multifactorial, involving both
DE genetic and environmental factors. The disease is inherited in 5-10%
DE of the cases. Patients with ALS22 may develop frontotemporal dementia.
DR MIM; 616208; phenotype.
DR MedGen; CN225414.
DR MeSH; D000690.
KW KW-0036:Amyotrophic lateral sclerosis.
//
ID Amyotrophic lateral sclerosis 23.
AC DI-05172
AR ALS23.
DE A form of amyotrophic lateral sclerosis, a neurodegenerative disorder
DE affecting upper motor neurons in the brain and lower motor neurons in
DE the brain stem and spinal cord, resulting in fatal paralysis. Sensory
DE abnormalities are absent. The pathologic hallmarks of the disease
DE include pallor of the corticospinal tract due to loss of motor
DE neurons, presence of ubiquitin-positive inclusions within surviving
DE motor neurons, and deposition of pathologic aggregates. The etiology
DE of amyotrophic lateral sclerosis is likely to be multifactorial,
DE involving both genetic and environmental factors. The disease is
DE inherited in 5-10% of the cases. ALS23 is an autosomal dominant form
DE with incomplete penetrance.
DR MIM; 617839; phenotype.
DR MedGen; CN778765.
DR MeSH; D000690.
KW KW-0036:Amyotrophic lateral sclerosis.
//
ID Amyotrophic lateral sclerosis 24.
AC DI-05206
AR ALS24.
DE A form of amyotrophic lateral sclerosis, a neurodegenerative disorder
DE affecting upper motor neurons in the brain and lower motor neurons in
DE the brain stem and spinal cord, resulting in fatal paralysis. Sensory
DE abnormalities are absent. The pathologic hallmarks of the disease
DE include pallor of the corticospinal tract due to loss of motor
DE neurons, presence of ubiquitin-positive inclusions within surviving
DE motor neurons, and deposition of pathologic aggregates. The etiology
DE of amyotrophic lateral sclerosis is likely to be multifactorial,
DE involving both genetic and environmental factors. The disease is
DE inherited in 5-10% of the cases.
DR MIM; 617892; phenotype.
DR MedGen; CN842244.
DR MeSH; D000690.
KW KW-0036:Amyotrophic lateral sclerosis.
//
ID Amyotrophic lateral sclerosis 25.
AC DI-05205
AR ALS25.
DE A form of amyotrophic lateral sclerosis, a neurodegenerative disorder
DE affecting upper motor neurons in the brain and lower motor neurons in
DE the brain stem and spinal cord, resulting in fatal paralysis. Sensory
DE abnormalities are absent. The pathologic hallmarks of the disease
DE include pallor of the corticospinal tract due to loss of motor
DE neurons, presence of ubiquitin-positive inclusions within surviving
DE motor neurons, and deposition of pathologic aggregates. The etiology
DE of amyotrophic lateral sclerosis is likely to be multifactorial,
DE involving both genetic and environmental factors. The disease is
DE inherited in 5-10% of the cases. ALS25 is an autosomal dominant form
DE with variable adult onset and incomplete penetrance.
DR MIM; 617921; phenotype.
DR MedGen; CN895594.
DR MeSH; D000690.
KW KW-0036:Amyotrophic lateral sclerosis.
//
ID Amyotrophic lateral sclerosis 26, with or without frontotemporal dementia.
AC DI-06002
AR ALS26.
DE A form of amyotrophic lateral sclerosis, a neurodegenerative disorder
DE affecting upper motor neurons in the brain and lower motor neurons in
DE the brain stem and spinal cord, resulting in fatal paralysis. Sensory
DE abnormalities are absent. The pathologic hallmarks of the disease
DE include pallor of the corticospinal tract due to loss of motor
DE neurons, presence of ubiquitin-positive inclusions within surviving
DE motor neurons, and deposition of pathologic aggregates. The etiology
DE of amyotrophic lateral sclerosis is likely to be multifactorial,
DE involving both genetic and environmental factors. The disease is
DE inherited in 5-10% of the cases. ALS26 inheritance is autosomal
DE dominant. Some patients may develop frontotemporal dementia.
DR MIM; 619133; phenotype.
DR MedGen; CN293620.
DR MeSH; D000690.
KW KW-0036:Amyotrophic lateral sclerosis.
//
ID Amyotrophic lateral sclerosis 4.
AC DI-00110
AR ALS4.
DE A form of amyotrophic lateral sclerosis with childhood- or adolescent-
DE onset, and characterized by slow disease progression and the sparing
DE of bulbar and respiratory muscles. Amyotrophic lateral sclerosis is a
DE neurodegenerative disorder affecting upper motor neurons in the brain
DE and lower motor neurons in the brain stem and spinal cord, resulting
DE in fatal paralysis. Sensory abnormalities are absent. The pathologic
DE hallmarks of the disease include pallor of the corticospinal tract due
DE to loss of motor neurons, presence of ubiquitin-positive inclusions
DE within surviving motor neurons, and deposition of pathologic
DE aggregates. The etiology of amyotrophic lateral sclerosis is likely to
DE be multifactorial, involving both genetic and environmental factors.
DE The disease is inherited in 5-10% of the cases.
SY Amyotrophic lateral sclerosis juvenile 4.
SY Neuronopathy distal hereditary motor with pyramidal features.
DR MIM; 602433; phenotype.
DR MedGen; C1865409.
DR MeSH; D000690.
KW KW-0036:Amyotrophic lateral sclerosis.
//
ID Amyotrophic lateral sclerosis 5, juvenile.
AC DI-04565
AR ALS5.
DE A form of amyotrophic lateral sclerosis, a neurodegenerative disorder
DE affecting upper motor neurons in the brain and lower motor neurons in
DE the brain stem and spinal cord, resulting in fatal paralysis. Sensory
DE abnormalities are absent. The pathologic hallmarks of the disease
DE include pallor of the corticospinal tract due to loss of motor
DE neurons, presence of ubiquitin-positive inclusions within surviving
DE motor neurons, and deposition of pathologic aggregates. The etiology
DE of amyotrophic lateral sclerosis is likely to be multifactorial,
DE involving both genetic and environmental factors. The disease is
DE inherited in 5-10% of the cases. ALS5 is an autosomal recessive,
DE juvenile form characterized by onset of upper and lower motor neuron
DE signs before age 25.
DR MIM; 602099; phenotype.
DR MedGen; C1865864.
DR MeSH; D000690.
KW KW-0036:Amyotrophic lateral sclerosis.
//
ID Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia.
AC DI-00111
AR ALS6.
DE A neurodegenerative disorder affecting upper motor neurons in the
DE brain and lower motor neurons in the brain stem and spinal cord,
DE resulting in fatal paralysis. Sensory abnormalities are absent. The
DE pathologic hallmarks of the disease include pallor of the
DE corticospinal tract due to loss of motor neurons, presence of
DE ubiquitin-positive inclusions within surviving motor neurons, and
DE deposition of pathologic aggregates. The etiology of amyotrophic
DE lateral sclerosis is likely to be multifactorial, involving both
DE genetic and environmental factors. The disease is inherited in 5-10%
DE of the cases.
DR MIM; 608030; phenotype.
DR MedGen; C1842675.
DR MedGen; C2750729.
DR MeSH; D000690.
KW KW-0036:Amyotrophic lateral sclerosis.
//
ID Amyotrophic lateral sclerosis 8.
AC DI-00112
AR ALS8.
DE A neurodegenerative disorder affecting upper motor neurons in the
DE brain and lower motor neurons in the brain stem and spinal cord,
DE resulting in fatal paralysis. Sensory abnormalities are absent. The
DE pathologic hallmarks of the disease include pallor of the
DE corticospinal tract due to loss of motor neurons, presence of
DE ubiquitin-positive inclusions within surviving motor neurons, and
DE deposition of pathologic aggregates. The etiology of amyotrophic
DE lateral sclerosis is likely to be multifactorial, involving both
DE genetic and environmental factors. The disease is inherited in 5-10%
DE of the cases.
DR MIM; 608627; phenotype.
DR MedGen; C1837728.
DR MeSH; D000690.
KW KW-0036:Amyotrophic lateral sclerosis.
//
ID Amyotrophic lateral sclerosis 9.
AC DI-00113
AR ALS9.
DE A neurodegenerative disorder affecting upper motor neurons in the
DE brain and lower motor neurons in the brain stem and spinal cord,
DE resulting in fatal paralysis. Sensory abnormalities are absent. The
DE pathologic hallmarks of the disease include pallor of the
DE corticospinal tract due to loss of motor neurons, presence of
DE ubiquitin-positive inclusions within surviving motor neurons, and
DE deposition of pathologic aggregates. The etiology of amyotrophic
DE lateral sclerosis is likely to be multifactorial, involving both
DE genetic and environmental factors. The disease is inherited in 5-10%
DE of the cases.
DR MIM; 611895; phenotype.
DR MedGen; C2678468.
DR MeSH; D000690.
KW KW-0036:Amyotrophic lateral sclerosis.
//
ID Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1.
AC DI-02695
AR ALS-PDC1.
DE A neurodegenerative disorder characterized by chronic, progressive and
DE uniformly fatal amyotrophic lateral sclerosis and parkinsonism-
DE dementia. Both diseases are known to occur in the same kindred, the
DE same sibship and even the same individual.
SY ALS/PDC of Guam.
SY Amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam.
SY Guam disease.
DR MIM; 105500; phenotype.
DR MedGen; C0543859.
DR MeSH; D000690.
DR MeSH; D020734.
KW KW-0036:Amyotrophic lateral sclerosis.
KW KW-0908:Parkinsonism.
//
ID Analbuminemia.
AC DI-04235
AR ANALBA.
DE A rare autosomal recessive disorder manifested by the presence of a
DE very low amount of circulating serum albumin. Affected individuals
DE manifest mild edema, hypotension, fatigue, and, occasionally, lower
DE body lipodystrophy (mainly in adult females). The most common
DE biochemical finding is hyperlipidemia, with a significant increase in
DE the total and LDL cholesterol concentrations, but normal
DE concentrations of HDL cholesterol and triglycerides.
DR MIM; 616000; phenotype.
DR MedGen; C0878666.
DR MeSH; D034141.
//
ID Anauxetic dysplasia 2.
AC DI-04972
AR ANXD2.
DE An autosomal recessive spondyloepimetaphyseal dysplasia characterized
DE by severe short stature of prenatal onset, very short adult height
DE (less than 1 meter), hypodontia, midface hypoplasia, and mild
DE intellectual disability.
DR MIM; 617396; phenotype.
DR MedGen; CN241834.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Anauxetic dysplasia 3.
AC DI-05799
AR ANXD3.
DE An autosomal recessive skeletal dysplasia characterized by severe
DE short stature, brachydactyly, skin laxity, joint hypermobility and
DE dislocations, short metacarpals, broad middle phalanges, and
DE metaphyseal irregularities. Most patients also exhibit motor and
DE cognitive delays.
DR MIM; 618853; phenotype.
DR MedGen; CN280852.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Androgen insensitivity syndrome.
AC DI-00116
AR AIS.
DE An X-linked recessive form of pseudohermaphroditism due end-organ
DE resistance to androgen. Affected males have female external genitalia,
DE female breast development, blind vagina, absent uterus and female
DE adnexa, and abdominal or inguinal testes, despite a normal 46,XY
DE karyotype.
SY Androgen receptor deficiency.
SY Androgen resistance syndrome.
SY AR deficiency.
SY CAIS.
SY Complete androgen insensitivity syndrome.
SY DHTR deficiency.
SY Dihydrotestosterone receptor deficiency.
SY Testicular feminization syndrome.
SY TFM.
DR MIM; 300068; phenotype.
DR MedGen; C0039585.
DR MeSH; D013734.
KW KW-0657:Pseudohermaphroditism.
//
ID Androgen insensitivity, partial.
AC DI-00117
AR PAIS.
DE A disorder that is characterized by hypospadias, hypogonadism,
DE gynecomastia, genital ambiguity, normal XY karyotype, and a pedigree
DE pattern consistent with X-linked recessive inheritance. Some patients
DE present azoospermia or severe oligospermia without other clinical
DE manifestations.
SY Androgen insensitivity partial with or without breast cancer.
SY Familial incomplete male pseudohermaphroditism, type 1.
SY Reifenstein syndrome.
DR MIM; 312300; phenotype.
DR MedGen; C0268301.
DR MeSH; D013734.
KW KW-0657:Pseudohermaphroditism.
//
ID Anemia without thrombocytopenia, X-linked.
AC DI-03055
AR XLAWT.
DE A form of anemia characterized by abnormal morphology of erythrocytes
DE and granulocytes in peripheral blood, bone marrow dysplasia with
DE hypocellularity of erythroid and granulocytic lineages, and normal or
DE increased number of megakaryocytes. Neutropenia of a variable degree
DE is present in affected individuals.
SY Anemia X-linked with variable neutropenia.
DR MIM; 300835; phenotype.
DR MedGen; C3151785.
DR MedGen; C3550856.
DR MeSH; D000740.
//
ID Anemia, congenital dyserythropoietic, 1A.
AC DI-01400
AR CDAN1A.
DE An autosomal recessive blood disorder characterized by morphological
DE abnormalities of erythroblasts, ineffective erythropoiesis, macrocytic
DE anemia and secondary hemochromatosis. It is occasionally associated
DE with bone abnormalities, especially of the hands and feet
DE (acrodysostosis), nail hypoplasia, and scoliosis. Ultrastructural
DE features include internuclear chromatin bridges connecting some nearly
DE completely separated erythroblasts and an abnormal appearance (spongy
DE or Swiss-cheese appearance) of the heterochromatin in a high
DE proportion of the erythroblasts.
SY CDA I.
SY CDA Ia.
SY Congenital dyserythropoietic anemia type I.
SY Congenital dyserythropoietic anemia type Ia.
DR MIM; 224120; phenotype.
DR MedGen; C0271933.
DR MeSH; D000742.
KW KW-1055:Congenital dyserythropoietic anemia.
//
ID Anemia, congenital dyserythropoietic, 1B.
AC DI-04032
AR CDAN1B.
DE An autosomal recessive blood disorder characterized by morphological
DE abnormalities of erythroblasts, ineffective erythropoiesis, macrocytic
DE anemia and secondary hemochromatosis. It is occasionally associated
DE with bone abnormalities, especially of the hands and feet
DE (acrodysostosis), nail hypoplasia, and scoliosis. Ultrastructural
DE features include internuclear chromatin bridges connecting some nearly
DE completely separated erythroblasts and an abnormal appearance (spongy
DE or Swiss-cheese appearance) of the heterochromatin in a high
DE proportion of the erythroblasts.
SY CDA Ib.
SY Congenital dyserythropoietic anemia type Ib.
DR MIM; 615631; phenotype.
DR MedGen; C3810185.
DR MedGen; CN184538.
DR MeSH; D000742.
KW KW-1055:Congenital dyserythropoietic anemia.
//
ID Anemia, congenital dyserythropoietic, 2.
AC DI-02476
AR CDAN2.
DE An autosomal recessive blood disorder characterized by morphological
DE abnormalities of erythroblasts, ineffective erythropoiesis, normocytic
DE anemia, iron overload, jaundice, and variable splenomegaly.
DE Ultrastructural features include bi- or multinucleated erythroblasts
DE in bone marrow, karyorrhexis, and the presence of Gaucher-like bone
DE marrow histiocytes. The main biochemical feature of the disease is
DE defective glycosylation of some red blood cells membrane proteins.
SY CDA II.
SY Congenital dyserythropoietic anemia type II.
SY Dyserythropoietic anemia HEMPAS type.
SY HEMPAS.
SY Hereditary erythroblastic multinuclearity with positive acidified-serum test.
DR MIM; 224100; phenotype.
DR MedGen; C1306589.
DR MeSH; D000742.
KW KW-1055:Congenital dyserythropoietic anemia.
//
ID Anemia, congenital dyserythropoietic, 3A.
AC DI-06363
AR CDAN3A.
DE An autosomal dominant blood disorder characterized by ineffective
DE erythropoiesis, hemolytic anemia, macrocytosis in the peripheral
DE blood, intravascular hemolysis, and giant multinucleated erythroblasts
DE in the bone marrow.
SY Anemia, congenital dyserythropoietic, type III.
SY Anemia, congenital dyserythropoietic, type IIIA.
SY Anemia with multinucleated erythroblasts erythroreticulosis, hereditary benign.
SY CDA, type IIIA.
SY CDAN3.
SY Dyserythropoietic anemia, congenital, type IIIA.
DR MIM; 105600; phenotype.
DR MedGen; C0271934.
DR MeSH; D000742.
KW KW-1055:Congenital dyserythropoietic anemia.
//
ID Anemia, congenital dyserythropoietic, 3B, autosomal recessive.
AC DI-06364
AR CDAN3B.
DE An autosomal recessive blood disorder characterized by marked
DE dyserythropoiesis, hemolytic anemia, macrocytosis in the peripheral
DE blood, and giant multinucleated erythroblasts in the bone marrow.
DR MIM; 619789; phenotype.
DR MedGen; CN307040.
DR MeSH; D000742.
KW KW-1055:Congenital dyserythropoietic anemia.
//
ID Anemia, congenital dyserythropoietic, 4.
AC DI-02966
AR CDAN4.
DE A blood disorder characterized by ineffective erythropoiesis and
DE hemolysis resulting in anemia. Circulating erythroblasts and
DE erythroblasts in the bone marrow show various morphologic
DE abnormalities. Affected individuals with CDA4 also have increased
DE levels of fetal hemoglobin.
SY CDA IV.
SY Congenital dyserythropoietic anemia type IV.
DR MIM; 613673; phenotype.
DR MedGen; C3150926.
DR MeSH; D000742.
KW KW-1055:Congenital dyserythropoietic anemia.
//
ID Anemia, hypochromic microcytic, with iron overload 1.
AC DI-01787
AR AHMIO1.
DE A hematologic disease characterized by abnormal hemoglobin content in
DE the erythrocytes which are reduced in size. The disorder is due to an
DE error of iron metabolism that results in high serum iron, massive
DE hepatic iron deposition, and absence of sideroblasts and stainable
DE bone marrow iron store. Despite adequate transferrin-iron complex,
DE delivery of iron to the erythroid bone marrow is apparently
DE insufficient for the demands of hemoglobin synthesis.
SY Hypochromic microcytic anemia.
DR MIM; 206100; phenotype.
DR MedGen; C2673913.
DR MeSH; D000747.
//
ID Anemia, hypochromic microcytic, with iron overload 2.
AC DI-03728
AR AHMIO2.
DE A hematologic disease characterized by abnormal hemoglobin content in
DE the erythrocytes which are reduced in size, severe anemia,
DE erythropoietic hyperplasia of bone marrow, massive hepatic iron
DE deposition, and hepatosplenomegaly.
DR MIM; 615234; phenotype.
DR MedGen; C3808920.
DR MedGen; CN169678.
DR MeSH; D000747.
//
ID Anemia, non-spherocytic hemolytic, due to G6PD deficiency.
AC DI-01351
AR NSHA.
DE A disease characterized by G6PD deficiency, acute hemolytic anemia,
DE fatigue, back pain, and jaundice. In most patients, the disease is
DE triggered by an exogenous agent, such as some drugs, food, or
DE infection. Increased unconjugated bilirubin, lactate dehydrogenase,
DE and reticulocytosis are markers of the disorder. Although G6PD
DE deficiency can be life-threatening, most patients are asymptomatic
DE throughout their life.
DR MIM; 300908; phenotype.
DR MedGen; C2720289.
DR MedGen; CN069445.
DR MeSH; D000746.
KW KW-0360:Hereditary hemolytic anemia.
//
ID Anemia, sideroblastic, 1.
AC DI-00120
AR SIDBA1.
DE A form of sideroblastic anemia that shows a variable hematologic
DE response to pharmacologic doses of pyridoxine. Sideroblastic anemia is
DE characterized by anemia of varying severity, hypochromic peripheral
DE erythrocytes, systemic iron overload secondary to chronic ineffective
DE erythropoiesis, and the presence of bone marrow ringed sideroblasts.
DE Sideroblasts are characterized by iron-loaded mitochondria clustered
DE around the nucleus.
SY Anemia, sideroblastic, X-linked.
SY ANH1.
SY Hereditary iron-loading anemia.
SY Hereditary sideroblastic anemia.
SY Hypochromic anemia.
SY XLSA.
DR MIM; 300751; phenotype.
DR MedGen; C0221018.
DR MeSH; D000747.
DR MeSH; D000756.
//
ID Anemia, sideroblastic, 2, pyridoxine-refractory.
AC DI-00119
AR SIDBA2.
DE A form of sideroblastic anemia not responsive to pyridoxine.
DE Sideroblastic anemia is characterized by anemia of varying severity,
DE hypochromic peripheral erythrocytes, systemic iron overload secondary
DE to chronic ineffective erythropoiesis, and the presence of bone marrow
DE ringed sideroblasts. Sideroblasts are characterized by iron-loaded
DE mitochondria clustered around the nucleus.
SY Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive.
DR MIM; 205950; phenotype.
DR MedGen; C2673914.
DR MeSH; D000756.
//
ID Anemia, sideroblastic, 3, pyridoxine-refractory.
AC DI-04678
AR SIDBA3.
DE A form of sideroblastic anemia, a bone marrow disorder defined by the
DE presence of pathologic iron deposits in erythroblast mitochondria.
DE Sideroblastic anemia is characterized by anemia of varying severity,
DE hypochromic peripheral erythrocytes, systemic iron overload secondary
DE to chronic ineffective erythropoiesis, and the presence of bone marrow
DE ringed sideroblasts. Sideroblasts are characterized by iron-loaded
DE mitochondria clustered around the nucleus. SIDBA3 is refractory to
DE treatment with vitamin B6, while iron chelation therapy may result in
DE clinical improvement. SIDBA3 inheritance is autosomal recessive.
DR MIM; 616860; phenotype.
DR MedGen; CN235585.
DR MeSH; D000756.
//
ID Anemia, sideroblastic, 4.
AC DI-04677
AR SIDBA4.
DE A form of sideroblastic anemia, a bone marrow disorder defined by the
DE presence of pathologic iron deposits in erythroblast mitochondria.
DE Sideroblastic anemia is characterized by anemia of varying severity,
DE hypochromic peripheral erythrocytes, systemic iron overload secondary
DE to chronic ineffective erythropoiesis, and the presence of bone marrow
DE ringed sideroblasts. Sideroblasts are characterized by iron-loaded
DE mitochondria clustered around the nucleus. SIDBA4 has been reported to
DE be inherited as an autosomal recessive disease, with a pseudodominant
DE pattern of inheritance in some families.
DR MIM; 182170; phenotype.
DR MedGen; C2674249.
DR MeSH; D000756.
//
ID Anemia, sideroblastic, 5.
AC DI-06225
AR SIDBA5.
DE A form of sideroblastic anemia, a bone marrow disorder defined by the
DE presence of pathologic iron deposits in erythroblast mitochondria.
DE Sideroblastic anemia is characterized by anemia of varying severity,
DE hypochromic peripheral erythrocytes, systemic iron overload secondary
DE to chronic ineffective erythropoiesis, and the presence of bone marrow
DE ringed sideroblasts. Sideroblasts are characterized by iron-loaded
DE mitochondria clustered around the nucleus. SIDBA5 inheritance is
DE autosomal recessive.
DR MIM; 619523; phenotype.
DR MedGen; CN300476.
DR MeSH; D000756.
//
ID Anemia, sideroblastic, spinocerebellar ataxia.
AC DI-02459
AR ASAT.
DE An X-linked recessive disorder characterized by an infantile to early
DE childhood onset of non-progressive cerebellar ataxia and mild anemia,
DE with hypochromia and microcytosis.
SY Pagon Bird Detter syndrome.
DR MIM; 301310; phenotype.
DR MedGen; C1845028.
DR MeSH; D000756.
DR MeSH; D020754.
//
ID Anencephaly 1.
AC DI-05078
AR ANPH1.
DE An extreme form of neural tube defect resulting in the absence of
DE brain tissues, and death in utero or perinatally. Infants are born
DE with intact spinal cords, cerebellums, and brainstems, but lack
DE formation of neural structures above this level. The skull is only
DE partially formed. ANPH1 inheritance is autosomal recessive.
SY Anencephalus.
SY ANPH.
DR MIM; 206500; phenotype.
DR MedGen; C0002902.
DR MeSH; D000757.
//
ID Anencephaly 2.
AC DI-06156
AR ANPH2.
DE A form of anencephaly, an extreme neural tube defect resulting in the
DE absence of brain tissues, and death in utero or perinatally. Infants
DE are born with intact spinal cords, cerebellums, and brainstems, but
DE lack formation of neural structures above this level. The skull is
DE only partially formed. ANPH2 features may also include frontonasal
DE dysplasia with midline cleft of the upper lip and alveolar ridge,
DE bifid nose, and clinical anophthalmia. ANPH2 inheritance is autosomal
DE recessive.
DR MIM; 619452; phenotype.
DR MedGen; CN300068.
DR MeSH; D000757.
//
ID Aneurysm, intracranial berry, 12.
AC DI-05735
AR ANIB12.
DE A form of cerebral aneurysm, a focal abnormal dilatation of a blood
DE vessel in the brain. Berry intracranial aneurysms, also known as
DE saccular aneurysms, have a characteristic rounded shape and account
DE for the vast majority of intracranial aneurysms. They are the most
DE common cause of non-traumatic subarachnoid hemorrhage, a sudden-onset
DE disease that can lead to severe disability and death. Several risk
DE factors such as smoking, hypertension, and excessive alcohol intake
DE are associated with subarachnoid hemorrhage.
DR MIM; 618734; phenotype.
DR MedGen; CN263139.
DR MeSH; D002532.
//
ID Angelman syndrome.
AC DI-00121
AR AS.
DE A neurodevelopmental disorder characterized by severe motor and
DE intellectual retardation, ataxia, frequent jerky limb movements and
DE flapping of the arms and hands, hypotonia, seizures, absence of
DE speech, frequent smiling and episodes of paroxysmal laughter, open-
DE mouthed expression revealing the tongue.
SY Happy puppet syndrome.
DR MIM; 105830; phenotype.
DR MedGen; C0162635.
DR MeSH; D017204.
//
ID Angioedema induced by ACE inhibitors.
AC DI-03955
AR AEACEI.
DE A potentially life-threatening side effect of ACE inhibitors that
DE appears in a subset of patients taking these drugs for hypertension
DE and cardiovascular disease treatment. AEACEI is characterized by
DE swelling of the face, lips, tongue, and airway that can lead to
DE suffocation and death if severe.
SY AE-ACEI.
DR MIM; 300909; phenotype.
DR MedGen; CN069588.
DR MeSH; D000799.
DR MeSH; D064420.
//
ID Angioedema, hereditary.
AC DI-00543
AR HAE.
DE An autosomal dominant disorder characterized by episodic local
DE swelling involving subcutaneous or submucous tissue of the upper
DE respiratory and gastrointestinal tracts, face, extremities, and
DE genitalia. Hereditary angioedema due to C1 esterase inhibitor
DE deficiency is comprised of two clinically indistinguishable forms. In
DE hereditary angioedema type 1, serum levels of C1 esterase inhibitor
DE are decreased, while in type 2, the levels are normal or elevated, but
DE the protein is non-functional.
SY C1 esterase inhibitor deficiency.
SY HANE.
SY Hereditary angioneurotic edema.
DR MIM; 106100; phenotype.
DR MedGen; C0019243.
DR MedGen; C1862892.
DR MedGen; C2717906.
DR MeSH; D054179.
//
ID Angioedema, hereditary, 3.
AC DI-00544
AR HAE3.
DE A hereditary angioedema occurring only in women. Hereditary angioedema
DE is an autosomal dominant disorder characterized by episodic local
DE swelling involving subcutaneous or submucous tissue of the upper
DE respiratory and gastrointestinal tracts, face, extremities, and
DE genitalia. Hereditary angioedema type 3 differs from types 1 and 2 in
DE that both concentration and function of C1 esterase inhibitor are
DE normal. Hereditary angioedema type 3 is precipitated or worsened by
DE high estrogen levels (e.g., during pregnancy or treatment with oral
DE contraceptives).
SY Angioedema, hereditary, type III.
SY Angioneurotic edema hereditary with normal C1 inhibitor concentration and function.
SY Estrogen-related HAE.
SY Estrogen-sensitive HAE.
SY HAE with normal C1 inhibitor concentration and function.
SY Hereditary angioedema with normal C1 inhibitor activity.
DR MIM; 610618; phenotype.
DR MedGen; C1857728.
DR MeSH; D056828.
//
ID Angioedema, hereditary, 4.
AC DI-06124
AR HAE4.
DE A form of angioedema, a disorder characterized by episodic local
DE swelling involving subcutaneous or submucous tissue of the upper
DE respiratory and gastrointestinal tracts, face, extremities, and
DE genitalia. HAE4 is an autosomal dominant form with incomplete
DE penetrance, variable expressivity, and female predominance.
DR MIM; 619360; phenotype.
DR MedGen; CN297073.
DR MeSH; D054179.
//
ID Angioedema, hereditary, 5.
AC DI-06125
AR HAE5.
DE A form of angioedema, a disorder characterized by episodic local
DE swelling involving subcutaneous or submucous tissue of the upper
DE respiratory and gastrointestinal tracts, face, extremities, and
DE genitalia. HAE5 is an autosomal dominant form characterized by onset
DE of episodic swelling of the face, lips, hands, and abdomen in the
DE second decade of life.
DR MIM; 619361; phenotype.
DR MedGen; CN297074.
DR MeSH; D054179.
//
ID Angioedema, hereditary, 6.
AC DI-06126
AR HAE6.
DE A form of angioedema, a disorder characterized by episodic local
DE swelling involving subcutaneous or submucous tissue of the upper
DE respiratory and gastrointestinal tracts, face, extremities, and
DE genitalia. HAE6 is an autosomal dominant form with onset in adulthood.
DR MIM; 619363; phenotype.
DR MedGen; CN297075.
DR MeSH; D054179.
//
ID Angioedema, hereditary, 7.
AC DI-06127
AR HAE7.
DE A form of angioedema, a disorder characterized by episodic local
DE swelling involving subcutaneous or submucous tissue of the upper
DE respiratory and gastrointestinal tracts, face, extremities, and
DE genitalia. HAE7 is an autosomal dominant form characterized by onset
DE of recurrent swelling of the face, lips, and oral mucosa in the second
DE decade.
DR MIM; 619366; phenotype.
DR MedGen; CN297076.
DR MeSH; D054179.
//
ID Angioedema, hereditary, 8.
AC DI-06128
AR HAE8.
DE A form of angioedema, a disorder characterized by episodic local
DE swelling involving subcutaneous or submucous tissue of the upper
DE respiratory and gastrointestinal tracts, face, extremities, and
DE genitalia. HAE8 inheritance is autosomal dominant.
DR MIM; 619367; phenotype.
DR MedGen; CN297077.
DR MeSH; D054179.
//
ID Angiomatoid fibrous histiocytoma.
AC DI-02611
AR AFH.
DE A distinct variant of malignant fibrous histiocytoma that typically
DE occurs in children and adolescents and is manifest by nodular
DE subcutaneous growth. Characteristic microscopic features include
DE lobulated sheets of histiocyte-like cells intimately associated with
DE areas of hemorrhage and cystic pseudovascular spaces, as well as a
DE striking cuffing of inflammatory cells, mimicking a lymph node
DE metastasis.
DR MIM; 612160; phenotype.
DR MedGen; C1266127.
DR MeSH; D051677.
//
ID Anhaptoglobinemia.
AC DI-03152
AR AHP.
DE A condition characterized by the absence of the serum glycoprotein
DE haptoglobin. Serum levels of haptoglobin vary among normal persons:
DE levels are low in the neonatal period and in the elderly, differ by
DE population, and can be influenced by environmental factors, such as
DE infection. Secondary hypohaptoglobinemia can occur as a consequence of
DE hemolysis, during which haptoglobin binds to free hemoglobin.
DE Congenital haptoglobin deficiency is a risk factor for anaphylactic
DE non-hemolytic transfusion reactions.
SY Ahaptoglobinemia.
SY Hypohaptoglobinemia.
DR MIM; 614081; phenotype.
DR MedGen; C3279786.
DR MedGen; C3279787.
DR MeSH; D001796.
//
ID Anhidrosis, isolated, with normal sweat glands.
AC DI-04405
AR ANHD.
DE An autosomal recessive disorder characterized by generalized, isolated
DE anhidrosis, severe heat intolerance, and morphologically normal
DE eccrine sweat glands. Body growth, teeth, hair, nails, and skin are
DE normal.
SY Anhidrosis, familial generalized, with normal sweat glands.
SY Dann-Epstein-Sohar syndrome.
DR MIM; 106190; phenotype.
DR MedGen; C1862871.
DR MeSH; D007007.
//
ID Aniridia 1.
AC DI-01184
AR AN1.
DE A congenital, bilateral, panocular disorder characterized by complete
DE absence of the iris or extreme iris hypoplasia. Aniridia is not just
DE an isolated defect in iris development but it is associated with
DE macular and optic nerve hypoplasia, cataract, corneal changes,
DE nystagmus. Visual acuity is generally low but is unrelated to the
DE degree of iris hypoplasia. Glaucoma is a secondary problem causing
DE additional visual loss over time.
SY AN.
SY AN2.
SY Aniridia type II.
DR MIM; 106210; phenotype.
DR MedGen; C0003076.
DR MeSH; D015783.
//
ID Aniridia 2.
AC DI-04858
AR AN2.
DE A form of aniridia, a congenital, bilateral, panocular disorder
DE characterized by complete absence of the iris or extreme iris
DE hypoplasia. Aniridia is not just an isolated defect in iris
DE development but it is associated with macular and optic nerve
DE hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is
DE generally low but is unrelated to the degree of iris hypoplasia.
DE Glaucoma is a secondary problem causing additional visual loss over
DE time.
DR MIM; 617141; phenotype.
DR MedGen; C0344543.
DR MeSH; D015783.
//
ID Aniridia 3.
AC DI-04859
AR AN3.
DE A form of aniridia, a congenital, bilateral, panocular disorder
DE characterized by complete absence of the iris or extreme iris
DE hypoplasia. Aniridia is not just an isolated defect in iris
DE development but it is associated with macular and optic nerve
DE hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is
DE generally low but is unrelated to the degree of iris hypoplasia.
DE Glaucoma is a secondary problem causing additional visual loss over
DE time.
DR MIM; 617142; phenotype.
DR MedGen; CN238677.
DR MeSH; D015783.
//
ID Ankyloblepharon-ectodermal defects-cleft lip/palate.
AC DI-00122
AR AEC.
DE An autosomal dominant condition characterized by congenital ectodermal
DE dysplasia with coarse, wiry, sparse hair, dystrophic nails, slight
DE hypohidrosis, scalp infections, ankyloblepharon filiform adnatum,
DE maxillary hypoplasia, hypodontia and cleft lip/palate.
SY AEC syndrome.
SY Ankyloblepharon-ectodermal defect-cleft lip/palate.
SY Hay-Wells syndrome.
DR MIM; 106260; phenotype.
DR MedGen; C0406709.
DR MeSH; D004476.
KW KW-0038:Ectodermal dysplasia.
//
ID Anorexia nervosa.
AC DI-04568
AR ANON.
DE An eating disorder characterized by the lack or loss of appetite,
DE excess fear of becoming overweight, body image disturbance,
DE significant weight loss, refusal to maintain minimal normal weight,
DE and amenorrhea.
DR MIM; 606788; phenotype.
DR MedGen; C1853221.
DR MeSH; D000856.
//
ID Anterior segment anomalies with or without cataract.
AC DI-03442
AR ASA.
DE A disease characterized by various types of developmental eye
DE anomalies, in the absence of other abnormalities. The phenotypic
DE spectrum of anterior segment anomalies include central corneal
DE opacity, Peters anomaly, and bilateral persistence of the pupillary
DE membrane. Some patients have cataract.
DR MIM; 602588; phenotype.
DR MedGen; C3551443.
DR MeSH; D005124.
//
ID Anterior segment dysgenesis 1.
AC DI-00123
AR ASGD1.
DE A form of anterior segment dysgenesis, a group of defects affecting
DE anterior structures of the eye including cornea, iris, lens,
DE trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses
DE result from abnormal migration or differentiation of the neural crest
DE derived mesenchymal cells that give rise to components of the anterior
DE chamber during eye development. Different anterior segment anomalies
DE may exist alone or in combination, including iris hypoplasia, enlarged
DE or reduced corneal diameter, corneal vascularization and opacity,
DE posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal
DE angle, ectopia lentis, and anterior synechiae between the iris and
DE posterior corneal surface. Clinical conditions falling within the
DE phenotypic spectrum of anterior segment dysgeneses include aniridia,
DE Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and
DE iridogoniodysgenesis.
SY Anterior segment mesenchymal dysgenesis.
SY Anterior segment ocular dysgenesis.
SY ASMD.
SY ASOD.
SY Familial ocular anterior segment mesenchymal dysgenesis.
DR MIM; 107250; phenotype.
DR MedGen; C1862839.
DR MeSH; D005124.
//
ID Anterior segment dysgenesis 2.
AC DI-01416
AR ASGD2.
DE A form of anterior segment dysgenesis, a group of defects affecting
DE anterior structures of the eye including cornea, iris, lens,
DE trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses
DE result from abnormal migration or differentiation of the neural crest
DE derived mesenchymal cells that give rise to components of the anterior
DE chamber during eye development. Different anterior segment anomalies
DE may exist alone or in combination, including iris hypoplasia, enlarged
DE or reduced corneal diameter, corneal vascularization and opacity,
DE posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal
DE angle, ectopia lentis, and anterior synechiae between the iris and
DE posterior corneal surface. Clinical conditions falling within the
DE phenotypic spectrum of anterior segment dysgeneses include aniridia,
DE Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and
DE iridogoniodysgenesis. Some ASGD2 patients show congenital primary
DE aphakia, a defect caused by eye development arrest around the 4th-5th
DE week of gestation. This prevents the formation of any lens structure
DE and leads to severe secondary ocular anomalies, including a complete
DE aplasia of the anterior segment of the eye. In contrast, in secondary
DE aphakic eyes, lens induction has occurred, and the lens vesicle has
DE developed to some degree but finally has progressively resorbed
DE perinatally, leading, therefore, to less severe ocular defects. ASGD2
DE inheritance is autosomal recessive.
SY Aphakia, congenital primary.
SY Congenital primary aphakia.
SY CPA.
SY CPAK.
DR MIM; 610256; phenotype.
DR MedGen; C1853230.
DR MeSH; D001035.
//
ID Anterior segment dysgenesis 3.
AC DI-01832
AR ASGD3.
DE A form of anterior segment dysgenesis, a group of defects affecting
DE anterior structures of the eye including cornea, iris, lens,
DE trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses
DE result from abnormal migration or differentiation of the neural crest
DE derived mesenchymal cells that give rise to components of the anterior
DE chamber during eye development. Different anterior segment anomalies
DE may exist alone or in combination, including iris hypoplasia, enlarged
DE or reduced corneal diameter, corneal vascularization and opacity,
DE posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal
DE angle, ectopia lentis, and anterior synechiae between the iris and
DE posterior corneal surface. Clinical conditions falling within the
DE phenotypic spectrum of anterior segment dysgeneses include aniridia,
DE Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and
DE iridogoniodysgenesis. ASGD3 inheritance is autosomal dominant.
SY Glaucoma iridogoniodysplasia, familial.
SY IGDA.
SY Irid1.
SY Iridogoniodysgenesis, type 1.
SY Iridogoniodysgenesis anomaly.
SY Iridogoniodysgenesis anomaly, autosomal dominant.
SY Iris hypoplasia with glaucoma.
DR MIM; 601631; phenotype.
DR MedGen; C1839928.
DR MedGen; C1866560.
DR MedGen; C1866561.
DR MeSH; D005124.
//
ID Anterior segment dysgenesis 4.
AC DI-01833
AR ASGD4.
DE A form of anterior segment dysgenesis, a group of defects affecting
DE anterior structures of the eye including cornea, iris, lens,
DE trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses
DE result from abnormal migration or differentiation of the neural crest
DE derived mesenchymal cells that give rise to components of the anterior
DE chamber during eye development. Different anterior segment anomalies
DE may exist alone or in combination, including iris hypoplasia, enlarged
DE or reduced corneal diameter, corneal vascularization and opacity,
DE posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal
DE angle, ectopia lentis, and anterior synechiae between the iris and
DE posterior corneal surface. Clinical conditions falling within the
DE phenotypic spectrum of anterior segment dysgeneses include aniridia,
DE Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and
DE iridogoniodysgenesis. ASGD4 is an autosomal dominant disease.
SY IGDS2.
SY IHGA.
SY IRID2.
SY Iridogoniodysgenesis syndrome 2.
SY Iridogoniodysgenesis type 2.
SY Iris hypoplasia with early-onset glaucoma, autosomal dominant.
DR MIM; 137600; phenotype.
DR MedGen; C1842031.
DR MeSH; D005124.
//
ID Anterior segment dysgenesis 5.
AC DI-02157
AR ASGD5.
DE A form of anterior segment dysgenesis, a group of defects affecting
DE anterior structures of the eye including cornea, iris, lens,
DE trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses
DE result from abnormal migration or differentiation of the neural crest
DE derived mesenchymal cells that give rise to components of the anterior
DE chamber during eye development. Different anterior segment anomalies
DE may exist alone or in combination, including iris hypoplasia, enlarged
DE or reduced corneal diameter, corneal vascularization and opacity,
DE posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal
DE angle, ectopia lentis, and anterior synechiae between the iris and
DE posterior corneal surface. Clinical conditions falling within the
DE phenotypic spectrum of anterior segment dysgeneses include aniridia,
DE Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and
DE iridogoniodysgenesis.
DR MIM; 604229; phenotype.
DR MedGen; C0344559.
DR MeSH; D005124.
//
ID Anterior segment dysgenesis 6.
AC DI-04923
AR ASGD6.
DE A form of anterior segment dysgenesis, a group of defects affecting
DE anterior structures of the eye including cornea, iris, lens,
DE trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses
DE result from abnormal migration or differentiation of the neural crest
DE derived mesenchymal cells that give rise to components of the anterior
DE chamber during eye development. Different anterior segment anomalies
DE may exist alone or in combination, including iris hypoplasia, enlarged
DE or reduced corneal diameter, corneal vascularization and opacity,
DE posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal
DE angle, ectopia lentis, and anterior synechiae between the iris and
DE posterior corneal surface. Clinical conditions falling within the
DE phenotypic spectrum of anterior segment dysgeneses include aniridia,
DE Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and
DE iridogoniodysgenesis. ASGD6 patients predominantly manifest Peters
DE anomaly. Peters anomaly consists of corneal leukoma, defects in the
DE posterior structures of the cornea such as absence of the posterior
DE corneal stroma and Descemet membrane, and a variable degree of
DE iridocorneal and/or keratolenticular adhesions. Over 50% of patients
DE develop glaucoma in childhood.
DR MIM; 617315; phenotype.
DR MedGen; CN240370.
DR MeSH; D005124.
//
ID Anterior segment dysgenesis 7.
AC DI-04168
AR ASGD7.
DE A form of anterior segment dysgenesis, a group of defects affecting
DE anterior structures of the eye including cornea, iris, lens,
DE trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses
DE result from abnormal migration or differentiation of the neural crest
DE derived mesenchymal cells that give rise to components of the anterior
DE chamber during eye development. Different anterior segment anomalies
DE may exist alone or in combination, including iris hypoplasia, enlarged
DE or reduced corneal diameter, corneal vascularization and opacity,
DE posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal
DE angle, ectopia lentis, and anterior synechiae between the iris and
DE posterior corneal surface. Clinical conditions falling within the
DE phenotypic spectrum of anterior segment dysgeneses include aniridia,
DE Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and
DE iridogoniodysgenesis. ASGD7 is an autosomal recessive disease.
SY COPOA.
SY Corneal opacification with other ocular anomalies.
SY Sclerocornea with other ocular anomalies.
DR MIM; 269400; phenotype.
DR MedGen; C1853235.
DR MeSH; D003316.
//
ID Anterior segment dysgenesis 8.
AC DI-04922
AR ASGD8.
DE A form of anterior segment dysgenesis, a group of defects affecting
DE anterior structures of the eye including cornea, iris, lens,
DE trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses
DE result from abnormal migration or differentiation of the neural crest
DE derived mesenchymal cells that give rise to components of the anterior
DE chamber during eye development. Different anterior segment anomalies
DE may exist alone or in combination, including iris hypoplasia, enlarged
DE or reduced corneal diameter, corneal vascularization and opacity,
DE posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal
DE angle, ectopia lentis, and anterior synechiae between the iris and
DE posterior corneal surface. Clinical conditions falling within the
DE phenotypic spectrum of anterior segment dysgeneses include aniridia,
DE Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and
DE iridogoniodysgenesis. ASGD8 patients predominantly manifest iris and
DE lens abnormalities, in the absence of retinal abnormalities or extra-
DE ocular features. ASGD8 transmission pattern is consistent with
DE autosomal recessive inheritance.
DR MIM; 617319; phenotype.
DR MedGen; CN240371.
DR MeSH; D005124.
//
ID Antithrombin III deficiency.
AC DI-00124
AR AT3D.
DE An important risk factor for hereditary thrombophilia, a hemostatic
DE disorder characterized by a tendency to recurrent thrombosis.
DE Antithrombin-III deficiency is classified into 4 types. Type I:
DE characterized by a 50% decrease in antigenic and functional levels.
DE Type II: has defects affecting the thrombin-binding domain. Type III:
DE alteration of the heparin-binding domain. Plasma AT-III antigen levels
DE are normal in type II and III. Type IV: consists of miscellaneous
DE group of unclassifiable mutations.
SY Antithrombin 3 deficiency.
SY Antithrombin deficiency.
SY Antithrombin-III deficiency.
SY AT-III deficiency.
SY THPH7.
SY Thrombophilia due to antithrombin-III deficiency.
DR MIM; 613118; phenotype.
DR MedGen; C0272375.
DR MeSH; D020152.
KW KW-0792:Thrombophilia.
//
ID Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis.
AC DI-00046
AR ABS1.
DE A disease characterized by the association of Antley-Bixler syndrome
DE with steroidogenesis defects and abnormal genitalia. Antley-Bixler
DE syndrome is characterized by craniosynostosis, radiohumeral synostosis
DE present from the perinatal period, midface hypoplasia, choanal
DE stenosis or atresia, femoral bowing and multiple joint contractures.
SY Antley-Bixler syndrome-like phenotype with disordered steroidogenesis.
SY Cytochrome P450 oxidoreductase deficiency.
SY POR deficiency.
DR MIM; 201750; phenotype.
DR MedGen; C1860042.
DR MedGen; C3150099.
DR MeSH; D054882.
KW KW-0989:Craniosynostosis.
//
ID Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis.
AC DI-00125
AR ABS2.
DE A rare syndrome characterized by craniosynostosis, radiohumeral
DE synostosis present from the perinatal period, midface hypoplasia,
DE choanal stenosis or atresia, femoral bowing and multiple joint
DE contractures. Arachnodactyly and/or camptodactyly have also been
DE reported.
SY Multisynostotic osteodysgenesis with long bone fractures.
SY Osteodysgenesis multisynostotic with fractures.
SY Trapezoidocephaly-synostosis syndrome.
DR MIM; 207410; phenotype.
DR MedGen; C2936791.
DR MeSH; D054882.
KW KW-0989:Craniosynostosis.
//
ID Aortic aneurysm, familial abdominal.
AC DI-00126
AR AAA.
DE A common multifactorial disorder characterized by permanent dilation
DE of the abdominal aorta, usually due to degenerative changes in the
DE aortic wall. Histologically, AAA is characterized by signs of chronic
DE inflammation, destructive remodeling of the extracellular matrix, and
DE depletion of vascular smooth muscle cells.
DR MIM; 100070; phenotype.
DR MedGen; C0162871.
DR MedGen; C1853365.
DR MeSH; D017544.
KW KW-0993:Aortic aneurysm.
//
ID Aortic aneurysm, familial thoracic 10.
AC DI-04842
AR AAT10.
DE A form of thoracic aortic aneurysm, a disease characterized by
DE permanent dilation of the thoracic aorta usually due to degenerative
DE changes in the aortic wall. It is primarily associated with a
DE characteristic histologic appearance known as 'medial necrosis' or
DE 'Erdheim cystic medial necrosis' in which there is degeneration and
DE fragmentation of elastic fibers, loss of smooth muscle cells, and an
DE accumulation of basophilic ground substance.
SY Aortic aneurysm, thoracic, with or without aortic dissection.
DR MIM; 617168; phenotype.
DR MedGen; CN238824.
DR MeSH; D017545.
KW KW-0993:Aortic aneurysm.
//
ID Aortic aneurysm, familial thoracic 11.
AC DI-04950
AR AAT11.
DE A form of thoracic aortic aneurysm, a disease characterized by
DE permanent dilation of the thoracic aorta usually due to degenerative
DE changes in the aortic wall. It is primarily associated with a
DE characteristic histologic appearance known as 'medial necrosis' or
DE 'Erdheim cystic medial necrosis' in which there is degeneration and
DE fragmentation of elastic fibers, loss of smooth muscle cells, and an
DE accumulation of basophilic ground substance.
DR MIM; 617349; phenotype.
DR MedGen; CN240581.
DR MeSH; D017545.
KW KW-0993:Aortic aneurysm.
//
ID Aortic aneurysm, familial thoracic 4.
AC DI-00128
AR AAT4.
DE A disease characterized by permanent dilation of the thoracic aorta
DE usually due to degenerative changes in the aortic wall. It is
DE primarily associated with a characteristic histologic appearance known
DE as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which
DE there is degeneration and fragmentation of elastic fibers, loss of
DE smooth muscle cells, and an accumulation of basophilic ground
DE substance.
SY Aortic aneurysm/aortic dissection and patent ductus arteriosus.
SY FAA4.
SY Familial aortic aneurysm 4.
SY Non-syndromic thoracic aortic aneurysms and dissection.
SY TAAD.
SY Thoracic aortic aneurysms and dissection.
DR MIM; 132900; phenotype.
DR MedGen; C1851504.
DR MeSH; D017545.
KW KW-0993:Aortic aneurysm.
//
ID Aortic aneurysm, familial thoracic 6.
AC DI-00130
AR AAT6.
DE A disease characterized by permanent dilation of the thoracic aorta
DE usually due to degenerative changes in the aortic wall. It is
DE primarily associated with a characteristic histologic appearance known
DE as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which
DE there is degeneration and fragmentation of elastic fibers, loss of
DE smooth muscle cells, and an accumulation of basophilic ground
DE substance.
SY Familial thoracic aortic aneurysm with livedo reticularis and iris flocculi.
DR MIM; 611788; phenotype.
DR MedGen; C2673186.
DR MeSH; D017545.
KW KW-0993:Aortic aneurysm.
//
ID Aortic aneurysm, familial thoracic 7.
AC DI-03062
AR AAT7.
DE A disease characterized by permanent dilation of the thoracic aorta
DE usually due to degenerative changes in the aortic wall. It is
DE primarily associated with a characteristic histologic appearance known
DE as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which
DE there is degeneration and fragmentation of elastic fibers, loss of
DE smooth muscle cells, and an accumulation of basophilic ground
DE substance.
SY Aortic dissection familial with or without aortic aneurysm.
DR MIM; 613780; phenotype.
DR MedGen; C3151077.
DR MeSH; D017545.
KW KW-0993:Aortic aneurysm.
//
ID Aortic aneurysm, familial thoracic 8.
AC DI-03894
AR AAT8.
DE A disease characterized by permanent dilation of the thoracic aorta
DE usually due to degenerative changes in the aortic wall. It is
DE primarily associated with a characteristic histologic appearance known
DE as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which
DE there is degeneration and fragmentation of elastic fibers, loss of
DE smooth muscle cells, and an accumulation of basophilic ground
DE substance.
DR MIM; 615436; phenotype.
DR MedGen; C3809513.
DR MedGen; CN180164.
DR MeSH; D017545.
KW KW-0993:Aortic aneurysm.
//
ID Aortic aneurysm, familial thoracic 9.
AC DI-04293
AR AAT9.
DE A disease characterized by permanent dilation of the thoracic aorta
DE usually due to degenerative changes in the aortic wall. It is
DE primarily associated with a characteristic histologic appearance known
DE as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which
DE there is degeneration and fragmentation of elastic fibers, loss of
DE smooth muscle cells, and an accumulation of basophilic ground
DE substance.
SY Aortic aneurysm, thoracic, with or without aortic dissection.
DR MIM; 616166; phenotype.
DR MedGen; CN224986.
DR MeSH; D017545.
KW KW-0993:Aortic aneurysm.
//
ID Aortic valve disease 1.
AC DI-01186
AR AOVD1.
DE A common defect in the aortic valve in which two rather than three
DE leaflets are present. It is often associated with aortic valve
DE calcification, stenosis and insufficiency. In extreme cases, the blood
DE flow may be so restricted that the left ventricle fails to grow,
DE resulting in hypoplastic left heart syndrome.
SY Aortic valve disease.
SY BAV.
SY Bicuspid aortic valve.
SY Calcific aortic stenosis.
SY Calcification of aortic valve.
DR MIM; 109730; phenotype.
DR MedGen; C0149630.
DR MedGen; C0428791.
DR MedGen; C1260873.
DR MeSH; D001024.
//
ID Aortic valve disease 2.
AC DI-03529
AR AOVD2.
DE A common defect in the aortic valve in which two rather than three
DE leaflets are present. It is often associated with aortic valve
DE calcification, stenosis and insufficiency. In extreme cases, the blood
DE flow may be so restricted that the left ventricle fails to grow,
DE resulting in hypoplastic left heart syndrome.
SY Aortic valve stenosis.
SY Bicuspid aortic valve.
DR MIM; 614823; phenotype.
DR MedGen; C3542024.
DR MeSH; D001024.
//
ID Aortic valve disease 3.
AC DI-05612
AR AOVD3.
DE A common defect in the aortic valve in which two rather than three
DE leaflets are present. It is often associated with aortic valve
DE calcification, stenosis and insufficiency. In extreme cases, the blood
DE flow may be so restricted that the left ventricle fails to grow,
DE resulting in hypoplastic left heart syndrome. AOVD3 features are
DE bicuspid aortic valve, aortic valve stenosis, and ascending aortic
DE aneurysm. Some patients have atrial septal defects. AOVD3 inheritance
DE is autosomal dominant with incomplete penetrance.
DR MIM; 618496; phenotype.
DR MedGen; CN260588.
DR MeSH; D001024.
//
ID Apert syndrome.
AC DI-00131
AR APRS.
DE A syndrome characterized by facio-cranio-synostosis, osseous and
DE membranous syndactyly of the four extremities, and midface hypoplasia.
DE The craniosynostosis is bicoronal and results in acrocephaly of
DE brachysphenocephalic type. Syndactyly of the fingers and toes may be
DE total (mitten hands and sock feet) or partial affecting the second,
DE third, and fourth digits. Intellectual deficit is frequent and often
DE severe, usually being associated with cerebral malformations.
SY Acrocephalosyndactyly type 1.
SY ACS1.
SY ACS I.
DR MIM; 101200; phenotype.
DR MedGen; C0001193.
DR MedGen; C1863389.
DR MedGen; C1863390.
DR MedGen; C1863391.
DR MeSH; D000168.
KW KW-0989:Craniosynostosis.
//
ID Aplasia cutis congenita, non-syndromic.
AC DI-04202
AR ACC.
DE A disorder characterized by congenital absence of a portion of skin in
DE a localized or widespread area of the body. The lesions are most
DE commonly localized on the scalp, however aplasia cutis congenita can
DE affect any part of the body.
SY Congenital defect of skull and scalp.
SY Congenital scalp defect.
DR MIM; 107600; phenotype.
DR MedGen; C0282160.
DR MedGen; C2931779.
DR MeSH; D004476.
KW KW-0038:Ectodermal dysplasia.
//
ID Aplasia of lacrimal and salivary glands.
AC DI-01199
AR ALSG.
DE A rare condition characterized by dry conjunctival mucosae, irritable
DE eyes, epiphora (constant tearing), and xerostomia (dryness of the
DE mouth), which increases risk of dental erosion, dental caries,
DE periodontal disease, and oral infections. ALSG has variable
DE expressivity, and affected individuals may have aplasia or hypoplasia
DE of the lacrimal, parotid, submandibular, and sublingual glands and
DE absence of the lacrimal puncta.
SY Absence of salivary glands.
SY Parotid aplasia or hypoplasia.
DR MIM; 180920; phenotype.
DR MedGen; C0158667.
DR MedGen; C1867059.
DR MedGen; C1867060.
DR MeSH; D007766.
DR MeSH; D014987.
//
ID Aplasia or hypoplasia of the breasts and/or nipples 2.
AC DI-04216
AR BNAH2.
DE A group of congenital deformities encompassing total absence of
DE breasts and nipple (amastia), absence of the nipple (athelia), and
DE absence of the mammary gland (amazia).
DR MIM; 616001; phenotype.
DR MedGen; CN219250.
DR MeSH; D000013.
DR MeSH; D001941.
//
ID Aplastic anemia.
AC DI-02842
AR AA.
DE A form of anemia in which the bone marrow fails to produce adequate
DE numbers of peripheral blood elements. It is characterized by
DE peripheral pancytopenia and marrow hypoplasia.
DR MIM; 609135; phenotype.
DR MedGen; C2684859.
DR MeSH; D000741.
//
ID Apparent mineralocorticoid excess.
AC DI-01187
AR AME.
DE An autosomal recessive form of low-renin hypertension. It is usually
DE diagnosed within the first years of life and is characterized by
DE polyuria and polydipsia, failure to thrive, hypernatremia, severe
DE hypertension with low renin and aldosterone levels, profound
DE hypokalemia with metabolic alkalosis, and most often nephrocalcinosis.
SY AME1.
SY Cortisol 11-beta-ketoreductase deficiency.
DR MIM; 218030; phenotype.
DR MedGen; C2936861.
DR MeSH; D043204.
//
ID Arboleda-Tham syndrome.
AC DI-04351
AR ARTHS.
DE An autosomal dominant disorder characterized by intellectual
DE disability, dysmorphic facial features, delayed psychomotor
DE development, and lack of speech.
SY KAT6A syndrome.
SY MRD32.
DR MIM; 616268; phenotype.
DR MedGen; CN228654.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Argininemia.
AC DI-00132
AR ARGIN.
DE A rare autosomal recessive disorder of the urea cycle. Arginine is
DE elevated in the blood and cerebrospinal fluid, and periodic
DE hyperammonemia occurs. Clinical manifestations include developmental
DE delay, seizures, intellectual disability, hypotonia, ataxia and
DE progressive spastic quadriplegia.
SY ARG1 deficiency.
SY Arginase-1 deficiency.
SY Arginase deficiency.
SY Hyperargininemia.
DR MIM; 207800; phenotype.
DR MedGen; C0268548.
DR MeSH; D020162.
//
ID Argininosuccinic aciduria.
AC DI-00133
AR ARGINSA.
DE An autosomal recessive disorder of the urea cycle. The disease is
DE characterized by mental and physical retardation, liver enlargement,
DE skin lesions, dry and brittle hair showing trichorrhexis nodosa
DE microscopically and fluorescing red, convulsions, and episodic
DE unconsciousness.
SY Argininosuccinase deficiency.
SY Argininosuccinic acid lyase deficiency.
SY ASAuria.
SY ASL deficiency.
DR MIM; 207900; phenotype.
DR MedGen; C0268547.
DR MeSH; D000592.
//
ID Aromatase deficiency.
AC DI-00134
AR AROD.
DE A rare disease in which fetal androgens are not converted into
DE estrogens due to placental aromatase deficiency. Thus, pregnant women
DE exhibit a hirsutism, which spontaneously resolves after post-partum.
DE At birth, female babies present with pseudohermaphroditism due to
DE virilization of extern genital organs. In adult females,
DE manifestations include delay of puberty, breast hypoplasia and primary
DE amenorrhoea with multicystic ovaries.
SY Pseudohermaphroditism female due to placental aromatase deficiency.
DR MIM; 613546; phenotype.
DR MedGen; C0878680.
DR MeSH; D008661.
DR MeSH; D058489.
KW KW-0657:Pseudohermaphroditism.
//
ID Aromatase excess syndrome.
AC DI-01569
AR AEXS.
DE An autosomal dominant disorder characterized by increased
DE extraglandular aromatization of steroids that presents with
DE heterosexual precocity in males and isosexual precocity in females.
SY Familial gynecomastia.
SY Familial gynecomastia due to increased aromatase activity.
SY Hereditary gynecomastia.
SY Increased aromatase activity.
DR MIM; 139300; phenotype.
DR MedGen; C1841762.
DR MeSH; D006177.
//
ID Aromatic L-amino-acid decarboxylase deficiency.
AC DI-00135
AR AADCD.
DE An inborn error in neurotransmitter metabolism that leads to combined
DE serotonin and catecholamine deficiency. It causes developmental and
DE psychomotor delay, poor feeding, lethargy, ptosis, intermittent
DE hypothermia, gastrointestinal disturbances. The onset is early in
DE infancy and inheritance is autosomal recessive.
SY Aromatic-L-amino-acid decarboxylase deficiency.
SY DDC deficiency.
SY DOPA decarboxylase deficiency.
DR MIM; 608643; phenotype.
DR MedGen; C1291564.
DR MeSH; D000592.
//
ID Arrhythmogenic right ventricular dysplasia 11, familial, and mild palmoplantar keratoderma and woolly hair.
AC DI-04742
AR ARVD11PK.
DE An autosomal recessive disease characterized by arrhythmogenic
DE cardiomyopathy in association with palmoplantar keratoderma and woolly
DE hair.
SY Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair.
SY ARVD and mild palmoplantar keratoderma with or without woolly hair.
DR MIM; 610476; phenotype.
DR MedGen; C3552311.
DR MeSH; D007645.
DR MeSH; D019571.
KW KW-0122:Cardiomyopathy.
KW KW-1007:Palmoplantar keratoderma.
//
ID Arrhythmogenic right ventricular dysplasia, familial, 1.
AC DI-01549
AR ARVD1.
DE A congenital heart disease characterized by infiltration of adipose
DE and fibrous tissue into the right ventricle and loss of myocardial
DE cells, resulting in ventricular and supraventricular arrhythmias.
SY Arrhythmogenic right ventricular cardiomyopathy 1.
SY ARVC1.
SY Cardiomyopathy right ventricular dilated.
SY UHL anomaly.
DR MIM; 107970; phenotype.
DR MedGen; C0265857.
DR MedGen; C1862511.
DR MedGen; C1862512.
DR MeSH; D019571.
KW KW-0122:Cardiomyopathy.
//
ID Arrhythmogenic right ventricular dysplasia, familial, 10.
AC DI-01554
AR ARVD10.
DE A congenital heart disease characterized by infiltration of adipose
DE and fibrous tissue into the right ventricle and loss of myocardial
DE cells, resulting in ventricular and supraventricular arrhythmias.
SY Arrhythmogenic right ventricular cardiomyopathy 10.
SY ARVC10.
DR MIM; 610193; phenotype.
DR MedGen; C1857777.
DR MeSH; D019571.
KW KW-0122:Cardiomyopathy.
//
ID Arrhythmogenic right ventricular dysplasia, familial, 11.
AC DI-01555
AR ARVD11.
DE A congenital heart disease characterized by infiltration of adipose
DE and fibrous tissue into the right ventricle and loss of myocardial
DE cells, resulting in ventricular and supraventricular arrhythmias.
SY Arrhythmogenic right ventricular cardiomyopathy 11.
SY ARVC11.
DR MIM; 610476; phenotype.
DR MedGen; C1864850.
DR MeSH; D019571.
KW KW-0122:Cardiomyopathy.
//
ID Arrhythmogenic right ventricular dysplasia, familial, 12.
AC DI-01556
AR ARVD12.
DE A congenital heart disease characterized by infiltration of adipose
DE and fibrous tissue into the right ventricle and loss of myocardial
DE cells, resulting in ventricular and supraventricular arrhythmias.
SY Arrhythmogenic right ventricular cardiomyopathy 12.
SY ARVC12.
DR MIM; 611528; phenotype.
DR MedGen; C1969081.
DR MeSH; D019571.
KW KW-0122:Cardiomyopathy.
//
ID Arrhythmogenic right ventricular dysplasia, familial, 13.
AC DI-04014
AR ARVD13.
DE A congenital heart disease characterized by infiltration of adipose
DE and fibrous tissue into the right ventricle and loss of myocardial
DE cells, resulting in ventricular and supraventricular arrhythmias.
SY Arrhythmogenic right ventricular cardiomyopathy 13.
SY ARVC13.
DR MIM; 615616; phenotype.
DR MedGen; C3810138.
DR MedGen; CN183913.
DR MeSH; D019571.
KW KW-0122:Cardiomyopathy.
//
ID Arrhythmogenic right ventricular dysplasia, familial, 14.
AC DI-05863
AR ARVD14.
DE A congenital heart disease characterized by infiltration of adipose
DE and fibrous tissue into the right ventricle and loss of myocardial
DE cells, resulting in ventricular and supraventricular arrhythmias.
DR MIM; 618920; phenotype.
DR MedGen; CN283234.
DR MeSH; D019571.
KW KW-0122:Cardiomyopathy.
//
ID Arrhythmogenic right ventricular dysplasia, familial, 2.
AC DI-01550
AR ARVD2.
DE A congenital heart disease characterized by infiltration of adipose
DE and fibrous tissue into the right ventricle and loss of myocardial
DE cells, resulting in ventricular and supraventricular arrhythmias.
SY Arrhythmogenic right ventricular cardiomyopathy 2.
SY ARVC2.
DR MIM; 600996; phenotype.
DR MedGen; C1832931.
DR MeSH; D019571.
KW KW-0122:Cardiomyopathy.
//
ID Arrhythmogenic right ventricular dysplasia, familial, 5.
AC DI-01551
AR ARVD5.
DE A congenital heart disease characterized by infiltration of adipose
DE and fibrous tissue into the right ventricle and loss of myocardial
DE cells, resulting in ventricular and supraventricular arrhythmias.
SY Arrhythmogenic right ventricular cardiomyopathy 5.
SY ARVC5.
DR MIM; 604400; phenotype.
DR MedGen; C1858379.
DR MeSH; D019571.
KW KW-0122:Cardiomyopathy.
//
ID Arrhythmogenic right ventricular dysplasia, familial, 8.
AC DI-01552
AR ARVD8.
DE A congenital heart disease characterized by infiltration of adipose
DE and fibrous tissue into the right ventricle and loss of myocardial
DE cells, resulting in ventricular and supraventricular arrhythmias.
SY Arrhythmogenic right ventricular cardiomyopathy 8.
SY ARVC8.
DR MIM; 607450; phenotype.
DR MedGen; C1843896.
DR MeSH; D019571.
KW KW-0122:Cardiomyopathy.
//
ID Arrhythmogenic right ventricular dysplasia, familial, 9.
AC DI-01553
AR ARVD9.
DE A congenital heart disease characterized by infiltration of adipose
DE and fibrous tissue into the right ventricle and loss of myocardial
DE cells, resulting in ventricular and supraventricular arrhythmias.
SY Arrhythmogenic right ventricular cardiomyopathy 9.
SY ARVC9.
DR MIM; 609040; phenotype.
DR MedGen; C1836906.
DR MeSH; D019571.
KW KW-0122:Cardiomyopathy.
//
ID Arterial calcification of infancy, generalized, 1.
AC DI-01806
AR GACI1.
DE A severe autosomal recessive disorder characterized by calcification
DE of the internal elastic lamina of muscular arteries and stenosis due
DE to myointimal proliferation. The disorder is often fatal within the
DE first 6 months of life because of myocardial ischemia resulting in
DE refractory heart failure.
SY GACI.
SY Generalized arterial calcification of infancy.
SY Idiopathic infantile arterial calcification.
SY IIAC.
SY Occlusive infantile arteriopathy.
DR MIM; 208000; phenotype.
DR MedGen; C1859727.
DR MedGen; C1859728.
DR MeSH; D061205.
//
ID Arterial calcification of infancy, generalized, 2.
AC DI-03382
AR GACI2.
DE A severe autosomal recessive disorder characterized by calcification
DE of the internal elastic lamina of muscular arteries and stenosis due
DE to myointimal proliferation. The disorder is often fatal within the
DE first 6 months of life because of myocardial ischemia resulting in
DE refractory heart failure.
DR MIM; 614473; phenotype.
DR MedGen; C3276161.
DR MedGen; CN121653.
DR MeSH; D061205.
//
ID Arterial tortuosity syndrome.
AC DI-01190
AR ATORS.
DE An autosomal recessive disorder characterized by tortuosity and
DE elongation of major arteries, often resulting in death at young age.
DE Other typical features include aneurysms of large arteries and
DE stenosis of the pulmonary artery, in association with facial features
DE and several connective tissue manifestations such as soft skin and
DE joint laxity. Histopathological findings include fragmentation of
DE elastic fibers in the tunica media of large arteries.
SY Arterial tortuosity.
DR MIM; 208050; phenotype.
DR MedGen; C1859726.
DR MeSH; D003240.
DR MeSH; D014652.
//
ID Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect.
AC DI-04998
AR AMC1.
DE A form of arthrogryposis multiplex congenita, a developmental
DE condition characterized by multiple joint contractures resulting from
DE reduced or absent fetal movements. AMC1 is an autosomal recessive
DE severe form with onset in utero. Most affected individuals die in
DE utero. Those who survive have generalized contractures and hypotonia.
DE The disorder is caused by a neurogenic defect and poor or absent
DE myelin formation around peripheral nerves rather than by a muscular
DE defect.
SY AMCNMY.
SY Arthrogryposis multiplex congenita, neurogenic, with myelin defect.
DR MIM; 617468; phenotype.
DR MedGen; CN243956.
DR MeSH; D001176.
//
ID Arthrogryposis multiplex congenita 2, neurogenic type.
AC DI-05199
AR AMC2.
DE A form of arthrogryposis multiplex congenita, a heterogeneous group of
DE disorders characterized by multiple joint contractures resulting, in
DE some cases, from reduced or absent fetal movements. AMC2 is due to a
DE neurogenic defect and is characterized by congenital immobility of the
DE limbs with fixation of multiple joints, and muscle wasting. AMC2
DE transmission pattern is consistent with autosomal recessive
DE inheritance in several families. Penetrance may be incomplete in
DE females.
SY AMC, neurogenic type.
SY AMCN.
SY Arthrogryposis multiplex congenita, neurogenic type.
DR MIM; 208100; phenotype.
DR MedGen; C1859721.
DR MeSH; D001176.
//
ID Arthrogryposis multiplex congenita 3, myogenic type.
AC DI-05605
AR AMC3.
DE A form of arthrogryposis multiplex congenita, a heterogeneous group of
DE disorders characterized by multiple joint contractures resulting, in
DE some cases, from reduced or absent fetal movements. AMC3 is an
DE autosomal recessive form characterized by decreased fetal movements,
DE muscular hypotonia, delayed motor development, loss of ambulation,
DE variable skeletal defects, and persistent contractures of
DE interphalangeal joints.
SY AMCM.
SY Arthrogryposis multiplex congenita, myogenic type.
DR MIM; 618484; phenotype.
DR MedGen; CN260593.
DR MeSH; D001176.
//
ID Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum.
AC DI-05753
AR AMC4.
DE A form of arthrogryposis multiplex congenita, a developmental
DE condition characterized by multiple joint contractures resulting from
DE reduced or absent fetal movements. AMC4 is an autosomal recessive,
DE severe form with onset in utero. Patients manifest little or no fetal
DE movements, significant contractures affecting the upper and lower
DE limbs, dysmorphic facial features, optic atrophy, limb fractures,
DE profound global developmental delay, seizures, and peripheral
DE neuropathy. Many patients die in early childhood.
SY AMCNACC.
SY Arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum.
SY Zain syndrome.
DR MIM; 618766; phenotype.
DR MedGen; C5231494.
DR MeSH; D001176.
//
ID Arthrogryposis multiplex congenita 5.
AC DI-05874
AR AMC5.
DE A form of arthrogryposis multiplex congenita, a developmental
DE condition characterized by multiple joint contractures resulting from
DE reduced or absent fetal movements. AMC5 is an autosomal recessive form
DE characterized by severe congenital contractures, developmental delay,
DE strabismus and tremor.
DR MIM; 618947; phenotype.
DR MedGen; CN283302.
DR MeSH; D001176.
//
ID Arthrogryposis multiplex congenita 6.
AC DI-06114
AR AMC6.
DE A form of arthrogryposis multiplex congenita, a developmental
DE condition characterized by multiple joint contractures resulting from
DE reduced or absent fetal movements. AMC6 is an autosomal recessive
DE lethal form. Death usually occurs in utero or in infancy.
DR MIM; 619334; phenotype.
DR MedGen; CN296892.
DR MeSH; D001176.
//
ID Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development.
AC DI-05453
AR ACCIID.
DE An autosomal dominant disease characterized by moderate to severe
DE intellectual disability, craniosynostosis, cleft palate, micrognathia,
DE arthrogryposis, and short stature. Some patients may present bone
DE abnormalities and generalized seizures.
DR MIM; 618265; phenotype.
DR MedGen; CN257944.
DR MeSH; D000015.
KW KW-0242:Dwarfism.
KW KW-0989:Craniosynostosis.
KW KW-0991:Intellectual disability.
//
ID Arthrogryposis, distal, 1A.
AC DI-01491
AR DA1A.
DE A form of distal arthrogryposis, a disease characterized by congenital
DE joint contractures that mainly involve two or more distal parts of the
DE limbs, in the absence of a primary neurological or muscle disease.
DE Distal arthrogryposis type 1 is characterized largely by camptodactyly
DE and clubfoot. Hypoplasia and/or absence of some interphalangeal
DE creases is common. The shoulders and hips are less frequently
DE affected.
SY AMC.
SY AMCD1.
SY Arthrogryposis multiplex congenita.
SY Arthrogryposis multiplex congenita distal type 1.
DR MIM; 108120; phenotype.
DR MedGen; C0220662.
DR MeSH; D001176.
//
ID Arthrogryposis, distal, 1B.
AC DI-03302
AR DA1B.
DE A form of distal arthrogryposis, a disease characterized by congenital
DE joint contractures that mainly involve two or more distal parts of the
DE limbs, in the absence of a primary neurological or muscle disease.
DE Distal arthrogryposis type 1 is characterized largely by camptodactyly
DE and clubfoot. Hypoplasia and/or absence of some interphalangeal
DE creases is common. The shoulders and hips are less frequently
DE affected.
DR MIM; 614335; phenotype.
DR MedGen; C3280526.
DR MedGen; CN118811.
DR MeSH; D001176.
//
ID Arthrogryposis, distal, 1C.
AC DI-05980
AR DA1C.
DE A form of distal arthrogryposis, a disease characterized by congenital
DE joint contractures that mainly involve two or more distal parts of the
DE limbs, in the absence of a primary neurological or muscle disease.
DE DA1C patients show multiple congenital contractures, scoliosis, short
DE stature, and segmental amyoplasia. DA1C inheritance can be autosomal
DE recessive or autosomal dominant.
SY Arthrogryposis, distal, type 1C.
DR MIM; 619110; phenotype.
DR MedGen; CN293563.
DR MeSH; D001176.
//
ID Arthrogryposis, distal, 2A.
AC DI-01492
AR DA2A.
DE A form of distal arthrogryposis, a disease characterized by congenital
DE joint contractures that mainly involve two or more distal parts of the
DE limbs, in the absence of a primary neurological or muscle disease.
DE DA2A is characterized by contractures of the hands and feet,
DE oropharyngeal abnormalities, scoliosis, and a distinctive face that
DE includes a very small oral orifice, puckered lips, and a H-shaped
DE dimple of the chin.
SY Craniocarpotarsal dysplasia.
SY Craniocarpotarsal dystrophy.
SY Freeman-Sheldon syndrome.
SY FSS.
SY Whistling face-windmill vane hand syndrome.
DR MIM; 193700; phenotype.
DR MedGen; C0265224.
DR MeSH; D001176.
//
ID Arthrogryposis, distal, 2B1.
AC DI-01493
AR DA2B1.
DE A form of distal arthrogryposis, a disease characterized by congenital
DE joint contractures that mainly involve two or more distal parts of the
DE limbs, in the absence of a primary neurological or muscle disease.
DE DA2B is characterized by contractures of the hands and feet, and a
DE distinctive face characterized by prominent nasolabial folds, small
DE mouth and downslanting palpebral fissures. DA2B1 inheritance is
DE autosomal dominant.
SY AMCD2B.
SY Arthrogryposis multiplex congenita distal type 2B.
SY Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities.
SY Freeman-Sheldon syndrome variant.
SY FSSV.
SY Sheldon-Hall syndrome.
SY SHS.
DR MIM; 601680; phenotype.
DR MedGen; C1834523.
DR MeSH; D001176.
//
ID Arthrogryposis, distal, 2B2.
AC DI-05569
AR DA2B2.
DE A form of distal arthrogryposis, a disease characterized by congenital
DE joint contractures that mainly involve two or more distal parts of the
DE limbs, in the absence of a primary neurological or muscle disease.
DE Distal arthrogryposis type 2 is characterized by contractures of the
DE hands and feet, and a distinctive face characterized by prominent
DE nasolabial folds, small mouth and downslanting palpebral fissures.
DE DA2B2 inheritance is autosomal dominant.
SY Arthrogryposis, distal, type 2B2.
DR MIM; 618435; phenotype.
DR MedGen; CN258392.
DR MeSH; D001176.
//
ID Arthrogryposis, distal, 2B3.
AC DI-05570
AR DA2B3.
DE A form of distal arthrogryposis, a disease characterized by congenital
DE joint contractures that mainly involve two or more distal parts of the
DE limbs, in the absence of a primary neurological or muscle disease.
DE Distal arthrogryposis type 2 is characterized by contractures of the
DE hands and feet, and a distinctive face characterized by prominent
DE nasolabial folds, small mouth and downslanting palpebral fissures.
DE DA2B3 inheritance is autosomal dominant.
DR MIM; 618436; phenotype.
DR MedGen; CN258393.
DR MeSH; D001176.
//
ID Arthrogryposis, distal, 2B4.
AC DI-05559
AR DA2B4.
DE A form of distal arthrogryposis, a disease characterized by congenital
DE joint contractures that mainly involve two or more distal parts of the
DE limbs, in the absence of a primary neurological or muscle disease.
DE Distal arthrogryposis type 2 is characterized by contractures of the
DE hands and feet, and a distinctive face characterized by prominent
DE nasolabial folds, small mouth and downslanting palpebral fissures.
SY Arthrogryposis, distal, type 2B4.
DR MIM; 108120; phenotype.
DR MeSH; D001176.
//
ID Arthrogryposis, distal, 3.
AC DI-04138
AR DA3.
DE A form of distal arthrogryposis, a disease characterized by congenital
DE joint contractures that mainly involve two or more distal parts of the
DE limbs, in the absence of a primary neurological or muscle disease. DA3
DE features include short stature and cleft palate.
SY Arthrogryposis multiplex congenita, distal, type IIA.
SY Camptodactyly, cleft palate, and clubfoot.
SY Gordon syndrome.
DR MIM; 114300; phenotype.
DR MedGen; C0220666.
DR MeSH; D001176.
//
ID Arthrogryposis, distal, 5.
AC DI-04009
AR DA5.
DE A form of distal arthrogryposis, a disease characterized by congenital
DE joint contractures that mainly involve two or more distal parts of the
DE limbs, in the absence of a primary neurological or muscle disease. DA5
DE features include ocular abnormalities, typically ptosis,
DE ophthalmoplegia and/or strabismus, in addition to contractures of the
DE skeletal muscles. Some patients have pulmonary hypertension as a
DE result of restrictive lung disease.
SY Arthrogryposis with oculomotor limitation and electroretinal abnormalities.
SY DAIIB.
SY Distal arthrogryposis type IIB.
SY Oculomelic amyoplasia.
DR MIM; 108145; phenotype.
DR MedGen; C1862472.
DR MeSH; D001176.
//
ID Arthrogryposis, distal, 5D.
AC DI-03688
AR DA5D.
DE An autosomal recessive form of distal arthrogryposis, a disease
DE characterized by congenital joint contractures that mainly involve two
DE or more distal parts of the limbs, in the absence of a primary
DE neurological or muscle disease. DA5D is characterized by severe
DE camptodactyly of the hands, mild camptodactyly of the toes, clubfoot
DE and/or a calcaneovalgus deformity, extension contractures of the knee,
DE unilateral ptosis or ptosis that is more severe on one side, a round-
DE shaped face, arched eyebrows, a bulbous upturned nose, and
DE micrognathia. Patients do not have ophthalmoplegia.
DR MIM; 615065; phenotype.
DR MedGen; C3554415.
DR MedGen; CN165245.
DR MeSH; D001176.
//
ID Arthrogryposis, distal, 7.
AC DI-02392
AR DA7.
DE A form of distal arthrogryposis, a disease characterized by congenital
DE joint contractures that mainly involve two or more distal parts of the
DE limbs, in the absence of a primary neurological or muscle disease. DA7
DE is characterized by an inability to open the mouth fully (trismus) and
DE pseudocamptodactyly in which wrist dorsiflexion, but not volarflexion,
DE produces involuntary flexion contracture of distal and proximal
DE interphalangeal joints. Additional features include shortened
DE hamstring muscles and short stature.
SY Dutch-Kentucky syndrome.
SY Hecht syndrome.
SY Trismus-pseudocamptodactyly syndrome.
DR MIM; 158300; phenotype.
DR MedGen; C0265226.
DR MeSH; D001176.
//
ID Arthrogryposis, distal, with impaired proprioception and touch.
AC DI-04863
AR DAIPT.
DE A form of distal arthrogryposis, a disease characterized by congenital
DE joint contractures that mainly involve two or more distal parts of the
DE limbs, in the absence of a primary neurological or muscle disease.
DE DAIPT is an autosomal recessive disease characterized by selective
DE loss of discriminative touch perception, ataxia, difficulty walking,
DE dysmetria, and progressive skeletal contractures.
DR MIM; 617146; phenotype.
DR MedGen; CN238693.
DR MeSH; D001176.
//
ID Arthrogryposis, intellectual disability, and seizures.
AC DI-03977
AR AMRS.
DE A disease characterized by arthrogryposis, intellectual disability,
DE autism spectrum disorder, and epilepsy. Additional features include
DE limb malformations, distal joint involvement, microcephaly,
DE retromicrognathia, and general muscle hypotonia.
DR MIM; 615553; phenotype.
DR MedGen; C3809910.
DR MedGen; CN182249.
DR MeSH; D001176.
DR MeSH; D008607.
DR MeSH; D012640.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
KW KW-1268:Autism spectrum disorder.
//
ID Arthrogryposis, Perthes disease, and upward gaze palsy.
AC DI-04768
AR APUG.
DE An autosomal recessive, syndromic form of arthrogryposis, a disease
DE characterized by persistent joints flexure or contracture. APUG
DE patients manifest an unusual combination of arthrogryposis, upward
DE gaze palsy, and avascular necrosis of the hip (Perthes disease).
DR MIM; 614262; phenotype.
DR MedGen; C3280309.
DR MeSH; D001176.
DR MeSH; D007873.
DR MeSH; D015835.
//
ID Arthrogryposis, renal dysfunction and cholestasis syndrome 1.
AC DI-00136
AR ARCS1.
DE A multisystem disorder, characterized by neurogenic arthrogryposis
DE multiplex congenita, renal tubular dysfunction and neonatal
DE cholestasis with bile duct hypoplasia and low gamma glutamyl
DE transpeptidase activity. Platelet dysfunction is common.
SY ARCS.
SY ARC syndrome.
SY Arthrogryposis renal dysfunction and cholestasis 1.
DR MIM; 208085; phenotype.
DR MedGen; C1859722.
DR MeSH; D001176.
DR MeSH; D002779.
DR MeSH; D051437.
//
ID Arthrogryposis, renal dysfunction and cholestasis syndrome 2.
AC DI-02624
AR ARCS2.
DE A multisystem disorder, characterized by neurogenic arthrogryposis
DE multiplex congenita, renal tubular dysfunction and neonatal
DE cholestasis with bile duct hypoplasia and low gamma glutamyl
DE transpeptidase activity. Platelet dysfunction is common.
SY Arthrogryposis renal dysfunction and cholestasis 2.
DR MIM; 613404; phenotype.
DR MedGen; C3150672.
DR MeSH; D001176.
DR MeSH; D002779.
DR MeSH; D051437.
//
ID ARTS syndrome.
AC DI-01191
AR ARTS.
DE A disorder characterized by intellectual disability, early-onset
DE hypotonia, ataxia, delayed motor development, hearing impairment, and
DE optic atrophy. Susceptibility to infections, especially of the upper
DE respiratory tract, can result in early death.
SY Fatal X-linked ataxia with deafness and loss of vision.
SY MRXS18.
SY MRXSARTS.
DR MIM; 301835; phenotype.
DR MedGen; C0796028.
DR MeSH; D038901.
KW KW-0209:Deafness.
KW KW-0991:Intellectual disability.
//
ID Asparagine synthetase deficiency.
AC DI-03985
AR ASNSD.
DE An inborn error of asparagine biosynthesis that results in a severe
DE neurologic disorder characterized by microcephaly, severely delayed
DE psychomotor development, progressive encephalopathy, cortical atrophy,
DE and seizure or hyperekplexic activity.
SY ASNS deficiency.
DR MIM; 615574; phenotype.
DR MedGen; C3809971.
DR MedGen; CN185291.
DR MeSH; D000592.
KW KW-0991:Intellectual disability.
//
ID Aspartylglucosaminuria.
AC DI-00137
AR AGU.
DE An inborn lysosomal storage disease causing excess accumulation of
DE glycoasparagine in the body tissues and its increased excretion in
DE urine. Clinical features include mild to severe intellectual
DE disability manifesting from the age of two, coarse facial features and
DE mild connective tissue abnormalities.
SY AGA deficiency.
SY Aspartylglucosaminidase deficiency.
SY Aspartylglycosaminuria.
SY Glycosylasparaginase deficiency.
DR MIM; 208400; phenotype.
DR MedGen; C0268225.
DR MedGen; C2931840.
DR MedGen; CN068400.
DR MeSH; D054880.
//
ID Asperger syndrome, X-linked, 1.
AC DI-02429
AR ASPGX1.
DE A syndrome with features similar to autism. Affected individuals
DE exhibit qualitative impairment in social interaction, as manifest by
DE impairment in the use of non-verbal behaviors such as eye-to-eye gaze,
DE facial expression, body postures, and gestures, failure to develop
DE appropriate peer relationships, and lack of social sharing or
DE reciprocity. Patients also exhibit restricted, repetitive and
DE stereotyped patterns of behavior, interests, and activities, including
DE abnormal preoccupation with certain activities and inflexible
DE adherence to routines or rituals. Asperger syndrome is primarily
DE distinguished from autism by the higher cognitive abilities and a more
DE normal and timely development of language and communicative phrases.
DR MIM; 300494; phenotype.
DR MedGen; C1845341.
DR MeSH; D020817.
KW KW-1270:Asperger syndrome.
//
ID Asperger syndrome, X-linked, 2.
AC DI-02430
AR ASPGX2.
DE A syndrome with features similar to autism. Affected individuals
DE exhibit qualitative impairment in social interaction, as manifest by
DE impairment in the use of non-verbal behaviors such as eye-to-eye gaze,
DE facial expression, body postures, and gestures, failure to develop
DE appropriate peer relationships, and lack of social sharing or
DE reciprocity. Patients also exhibit restricted, repetitive and
DE stereotyped patterns of behavior, interests, and activities, including
DE abnormal preoccupation with certain activities and inflexible
DE adherence to routines or rituals. Asperger syndrome is primarily
DE distinguished from autism by the higher cognitive abilities and a more
DE normal and timely development of language and communicative phrases.
DR MIM; 300497; phenotype.
DR MedGen; C1845334.
DR MeSH; D020817.
KW KW-1270:Asperger syndrome.
//
ID Asplenia, isolated congenital.
AC DI-03692
AR ICAS.
DE A rare primary immunodeficiency and life-threatening condition, often
DE presenting with pneumococcal sepsis. Most affected individuals die of
DE severe bacterial infections in early childhood. Isolated asplenia is
DE distinct from asplenia associated with other complex visceral defects,
DE notably heterotaxy syndromes such as Ivemark syndrome.
SY Congenital isolated hyposplenia.
SY Familial asplenia.
SY Splenic hypoplasia.
DR MIM; 271400; phenotype.
DR MedGen; C0685889.
DR MedGen; C1849084.
DR MeSH; D007153.
//
ID Asthma.
AC DI-02482
AR ASTHMA.
DE The most common chronic disease affecting children and young adults.
DE It is a complex genetic disorder with a heterogeneous phenotype,
DE largely attributed to the interactions among many genes and between
DE these genes and the environment. It is characterized by recurrent
DE attacks of paroxysmal dyspnea, with wheezing due to spasmodic
DE contraction of the bronchi.
SY Bronchial asthma.
DR MIM; 600807; phenotype.
DR MedGen; C1833269.
DR MedGen; C1833270.
DR MedGen; C1869116.
DR MeSH; D001249.
KW KW-1058:Asthma.
//
ID Asthma, with nasal polyps and aspirin intolerance.
AC DI-02739
AR ANPAI.
DE A condition consisting of asthma, aspirin sensitivity and nasal
DE polyposis. Nasal polyposis is due to chronic inflammation of the
DE paranasal sinus mucosa, leading to protrusion of edematous polyps into
DE the nasal cavities.
SY AIA.
SY ASA triad.
SY Aspirin-intolerant asthma.
SY Asthma and nasal polyps.
SY Asthma aspirin-induced.
SY Nasal polyps asthma and aspirin sensitivity.
SY Samter triad.
DR MIM; 208550; phenotype.
DR MedGen; C1858067.
DR MedGen; C1859648.
DR MedGen; C1876174.
DR MeSH; D055963.
KW KW-1058:Asthma.
//
ID Asthma-related traits 1.
AC DI-02869
AR ASRT1.
DE Asthma-related traits include clinical symptoms of asthma, such as
DE coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed
DE by methacholine challenge test, serum IgE levels, atopy and atopic
DE dermatitis.
DR MIM; 607277; phenotype.
DR MedGen; C1846534.
DR MeSH; D001249.
KW KW-1058:Asthma.
//
ID Asthma-related traits 2.
AC DI-02880
AR ASRT2.
DE Asthma-related traits include clinical symptoms of asthma, such as
DE coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed
DE by methacholine challenge test, serum IgE levels, atopy and atopic
DE dermatitis.
DR MIM; 608584; phenotype.
DR MedGen; C1837811.
DR MeSH; D001249.
KW KW-1058:Asthma.
//
ID Asthma-related traits 5.
AC DI-02870
AR ASRT5.
DE Asthma-related traits include clinical symptoms of asthma, such as
DE coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed
DE by methacholine challenge test, serum IgE levels, atopy and atopic
DE dermatitis.
DR MIM; 611064; phenotype.
DR MedGen; C1970224.
DR MeSH; D001249.
KW KW-1058:Asthma.
//
ID Asthma-related traits 7.
AC DI-02871
AR ASRT7.
DE Asthma-related traits include clinical symptoms of asthma, such as
DE coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed
DE by methacholine challenge test, serum IgE levels, atopy and atopic
DE dermatitis.
DR MIM; 611960; phenotype.
DR MedGen; C2677770.
DR MeSH; D001249.
KW KW-1058:Asthma.
//
ID Ataxia and polyneuropathy, adult-onset.
AC DI-04887
AR APAO.
DE A mitochondrial disease characterized by ataxia, axonal sensorimotor
DE polyneuropathy, abnormal eye movements, and dysarthria.
DR MIM; 500010; phenotype.
DR MedGen; C1838916.
DR MeSH; D001259.
DR MeSH; D011115.
DR MeSH; D028361.
KW KW-0622:Neuropathy.
//
ID Ataxia telangiectasia.
AC DI-00139
AR AT.
DE A rare recessive disorder characterized by progressive cerebellar
DE ataxia, dilation of the blood vessels in the conjunctiva and eyeballs,
DE immunodeficiency, growth retardation and sexual immaturity. Patients
DE have a strong predisposition to cancer; about 30% of patients develop
DE tumors, particularly lymphomas and leukemias. Cells from affected
DE individuals are highly sensitive to damage by ionizing radiation and
DE resistant to inhibition of DNA synthesis following irradiation.
SY AT1.
SY Ataxia-telangiectasia.
SY Louis-Bar syndrome.
DR MIM; 208900; phenotype.
DR MedGen; C0004135.
DR MedGen; C1859616.
DR MedGen; C1876175.
DR MeSH; D001260.
KW KW-0523:Neurodegeneration.
//
ID Ataxia with vitamin E deficiency.
AC DI-00141
AR AVED.
DE An autosomal recessive disease characterized by undetectable or
DE markedly reduced plasma levels of vitamin E, spinocerebellar
DE degeneration, ataxia, areflexia and proprioception loss.
SY Ataxia Friedreich-like with selective vitamin E deficiency.
SY Familial isolated vitamin E deficiency.
DR MIM; 277460; phenotype.
DR MedGen; C1848533.
DR MeSH; D014811.
//
ID Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus.
AC DI-04316
AR ACPHD.
DE A disease characterized by juvenile-onset diabetes and
DE neurodegeneration, resulting in ataxia, upper-motor-neuron damage,
DE peripheral neuropathy, hearing loss, and cerebral atrophy.
DR MIM; 616192; phenotype.
DR MedGen; CN225195.
DR MeSH; D001259.
DR MeSH; D003920.
DR MeSH; D020271.
DR MeSH; D034381.
KW KW-0209:Deafness.
KW KW-0219:Diabetes mellitus.
KW KW-0523:Neurodegeneration.
KW KW-0622:Neuropathy.
//
ID Ataxia, intention tremor, and hypotonia syndrome, childhood-onset.
AC DI-06132
AR ATITHS.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE global developmental delay, mildly impaired intellectual development
DE with speech delay or learning disabilities, delayed walking due to
DE ataxia, intention tremor, and hypotonia apparent from early childhood.
DE Brain imaging shows cerebellar atrophy in some patients.
DR MIM; 619352; phenotype.
DR MedGen; CN297072.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Ataxia, sensory, 1, autosomal dominant.
AC DI-03449
AR SNAX1.
DE A rare disease characterized by progressive ataxia caused by
DE degeneration of the posterior columns of the spinal cord. Affected
DE individuals have a reduced ability to feel pain, temperature and
DE vibration, particularly in the hands and feet. Their most prominent
DE feature is an ataxic gait resulting from a severe loss of
DE proprioception. Thus, patients rely on visual cues for maintaining
DE proper body posture, such that they are unable to remain upright if
DE their eyes are closed (Romberg sign).
SY ADSA.
DR MIM; 608984; phenotype.
DR MedGen; C1837015.
DR MeSH; D001259.
//
ID Ataxia-oculomotor apraxia 3.
AC DI-03724
AR AOA3.
DE An autosomal recessive disease characterized by cerebellar ataxia,
DE oculomotor apraxia, areflexia and peripheral neuropathy.
DR MIM; 615217; phenotype.
DR MedGen; C3554690.
DR MedGen; CN169372.
DR MeSH; D001072.
DR MeSH; D002524.
KW KW-0523:Neurodegeneration.
//
ID Ataxia-oculomotor apraxia 4.
AC DI-04356
AR AOA4.
DE An autosomal recessive disease characterized by cerebellar ataxia,
DE oculomotor apraxia, areflexia and peripheral neuropathy.
DR MIM; 616267; phenotype.
DR MedGen; CN228595.
DR MeSH; D001072.
DR MeSH; D002524.
KW KW-0523:Neurodegeneration.
//
ID Ataxia-oculomotor apraxia syndrome.
AC DI-00138
AR AOA.
DE An autosomal recessive syndrome characterized by early-onset
DE cerebellar ataxia, oculomotor apraxia, early areflexia and late
DE peripheral neuropathy.
SY AOA1.
SY Ataxia early-onset with oculomotor apraxia and hypoalbuminemia.
SY Ataxia-oculomotor apraxia 1.
SY Cerebellar ataxia early-onset with hypoalbuminemia.
SY EAOH.
SY EOCA-HA.
DR MIM; 208920; phenotype.
DR MedGen; C1859598.
DR MeSH; D001072.
DR MeSH; D002524.
KW KW-0523:Neurodegeneration.
//
ID Ataxia-pancytopenia syndrome.
AC DI-04781
AR ATXPC.
DE An autosomal dominant disorder characterized by cerebellar ataxia,
DE variable hematologic cytopenias, and predisposition to bone marrow
DE failure and myeloid leukemia.
SY Myelocerebellar disorder.
DR MIM; 159550; phenotype.
DR MedGen; C1327919.
DR MeSH; D002524.
DR MeSH; D010198.
//
ID Ataxia-telangiectasia-like disorder 1.
AC DI-00140
AR ATLD1.
DE A rare disorder characterized by progressive cerebellar ataxia,
DE dysarthria, abnormal eye movements, and absence of telangiectasia.
DE ATLD patients show normal levels of total IgG, IgA and IgM, although
DE there may be reduced levels of specific functional antibodies. At the
DE cellular level, ATLD exhibits hypersensitivity to ionizing radiation
DE and radioresistant DNA synthesis.
SY Ataxia-telangiectasia-like disorder.
SY ATLD.
DR MIM; 604391; phenotype.
DR MedGen; C1858391.
DR MeSH; D002524.
DR MeSH; D049914.
//
ID Ataxia-telangiectasia-like disorder 2.
AC DI-04180
AR ATLD2.
DE A neurodegenerative disorder due to defects in DNA excision repair.
DE ATLD2 is characterized by developmental delay, ataxia, sensorineural
DE hearing loss, short stature, cutaneous and ocular telangiectasia, and
DE photosensitivity.
DR MIM; 615919; phenotype.
DR MedGen; CN197312.
DR MeSH; D001259.
DR MeSH; D049914.
KW KW-0209:Deafness.
KW KW-0242:Dwarfism.
KW KW-0523:Neurodegeneration.
//
ID Atelosteogenesis 1.
AC DI-00142
AR AO1.
DE A lethal chondrodysplasia characterized by distal hypoplasia of the
DE humeri and femurs, hypoplasia of the mid-thoracic spine, occasionally
DE complete lack of ossification of single hand bones, and the finding in
DE cartilage of multiple degenerated chondrocytes which are encapsulated
DE in fibrous tissue.
SY AOI.
SY Atelosteogenesis type I.
SY Giant cell chondrodysplasia.
SY Spondylohumerofemoral hypoplasia.
DR MIM; 108720; phenotype.
DR MedGen; C0265283.
DR MeSH; D010009.
//
ID Atelosteogenesis 2.
AC DI-00143
AR AO2.
DE A perinatal dysplasia characterized by shortening of the limbs, a
DE dysmorphic syndrome and radiographic skeletal features. Patients are
DE stillborn or die soon after birth.
SY AO-II.
SY Atelosteogenesis type II.
SY Neonatal osseous dysplasia 1.
SY Neonatal osseous dysplasia type I.
DR MIM; 256050; phenotype.
DR MedGen; C1850554.
DR MedGen; C1850555.
DR MeSH; D010009.
//
ID Atelosteogenesis 3.
AC DI-00144
AR AO3.
DE A short-limb lethal skeletal dysplasia with vertebral abnormalities,
DE disharmonious skeletal maturation, poorly modeled long bones and joint
DE dislocations. Recurrent respiratory insufficiency and/or infections
DE usually result in early death.
SY AOIII.
SY Atelosteogenesis type III.
DR MIM; 108721; phenotype.
DR MedGen; C1862414.
DR MeSH; D010009.
//
ID Athabaskan brainstem dysgenesis syndrome.
AC DI-01193
AR ABDS.
DE Characterized by horizontal gaze palsy, sensorineural deafness,
DE central hypoventilation, and developmental delay. Some patients had
DE swallowing dysfunction, vocal cord paralysis, facial paresis,
DE seizures, and cardiac outflow tract anomalies.
SY Narvajo brainstem syndrome.
DR MIM; 601536; phenotype.
DR MedGen; C1832215.
DR MeSH; D006319.
DR MeSH; D009421.
//
ID Atopic hypersensitivity.
AC DI-03286
AR ATOPY.
DE A condition characterized by predisposition to develop
DE hypersensitivity reactions. Atopic individuals can develop eczema,
DE allergic rhinitis and allergic asthma.
SY Atopy.
DR MIM; 147050; phenotype.
DR MedGen; C0020523.
DR MedGen; C0236175.
DR MedGen; C1840253.
DR MedGen; C1840254.
DR MeSH; D006969.
//
ID Atransferrinemia.
AC DI-00145
AR ATRAF.
DE A rare autosomal recessive disorder characterized by abnormal
DE synthesis of transferrin leading to iron overload and microcytic
DE hypochromic anemia.
DR MIM; 209300; phenotype.
DR MedGen; C0521802.
DR MedGen; C1859593.
DR MedGen; C3277918.
DR MeSH; D008664.
//
ID Atrial fibrillation, familial, 10.
AC DI-03122
AR ATFB10.
DE A familial form of atrial fibrillation, a common sustained cardiac
DE rhythm disturbance. Atrial fibrillation is characterized by
DE disorganized atrial electrical activity and ineffective atrial
DE contraction promoting blood stasis in the atria and reduces
DE ventricular filling. It can result in palpitations, syncope,
DE thromboembolic stroke, and congestive heart failure.
DR MIM; 614022; phenotype.
DR MedGen; C3151464.
DR MeSH; D001281.
KW KW-1020:Atrial fibrillation.
//
ID Atrial fibrillation, familial, 11.
AC DI-03142
AR ATFB11.
DE A familial form of atrial fibrillation, a common sustained cardiac
DE rhythm disturbance. Atrial fibrillation is characterized by
DE disorganized atrial electrical activity and ineffective atrial
DE contraction promoting blood stasis in the atria and reduces
DE ventricular filling. It can result in palpitations, syncope,
DE thromboembolic stroke, and congestive heart failure.
DR MIM; 614049; phenotype.
DR MedGen; C3279693.
DR MeSH; D001281.
KW KW-1020:Atrial fibrillation.
//
ID Atrial fibrillation, familial, 12.
AC DI-03143
AR ATFB12.
DE A familial form of atrial fibrillation, a common sustained cardiac
DE rhythm disturbance. Atrial fibrillation is characterized by
DE disorganized atrial electrical activity and ineffective atrial
DE contraction promoting blood stasis in the atria and reduces
DE ventricular filling. It can result in palpitations, syncope,
DE thromboembolic stroke, and congestive heart failure.
DR MIM; 614050; phenotype.
DR MedGen; C3279695.
DR MeSH; D001281.
KW KW-1020:Atrial fibrillation.
//
ID Atrial fibrillation, familial, 13.
AC DI-03855
AR ATFB13.
DE A familial form of atrial fibrillation, a common sustained cardiac
DE rhythm disturbance. Atrial fibrillation is characterized by
DE disorganized atrial electrical activity and ineffective atrial
DE contraction promoting blood stasis in the atria and reduces
DE ventricular filling. It can result in palpitations, syncope,
DE thromboembolic stroke, and congestive heart failure.
DR MIM; 615377; phenotype.
DR MedGen; C3809311.
DR MedGen; CN179765.
DR MeSH; D001281.
KW KW-1020:Atrial fibrillation.
//
ID Atrial fibrillation, familial, 14.
AC DI-03856
AR ATFB14.
DE A familial form of atrial fibrillation, a common sustained cardiac
DE rhythm disturbance. Atrial fibrillation is characterized by
DE disorganized atrial electrical activity and ineffective atrial
DE contraction promoting blood stasis in the atria and reduces
DE ventricular filling. It can result in palpitations, syncope,
DE thromboembolic stroke, and congestive heart failure.
DR MIM; 615378; phenotype.
DR MedGen; C3809312.
DR MedGen; CN179766.
DR MeSH; D001281.
KW KW-1020:Atrial fibrillation.
//
ID Atrial fibrillation, familial, 15.
AC DI-04082
AR ATFB15.
DE A familial form of atrial fibrillation, a common sustained cardiac
DE rhythm disturbance. Atrial fibrillation is characterized by
DE disorganized atrial electrical activity and ineffective atrial
DE contraction promoting blood stasis in the atria and reduces
DE ventricular filling. It can result in palpitations, syncope,
DE thromboembolic stroke, and congestive heart failure.
DR MIM; 615770; phenotype.
DR MedGen; CN186322.
DR MeSH; D001281.
KW KW-1020:Atrial fibrillation.
//
ID Atrial fibrillation, familial, 16.
AC DI-04165
AR ATFB16.
DE A familial form of atrial fibrillation, a common sustained cardiac
DE rhythm disturbance. Atrial fibrillation is characterized by
DE disorganized atrial electrical activity and ineffective atrial
DE contraction promoting blood stasis in the atria and reduces
DE ventricular filling. It can result in palpitations, syncope,
DE thromboembolic stroke, and congestive heart failure.
DR MIM; 613120; phenotype.
DR MedGen; CN220307.
DR MeSH; D001281.
KW KW-1020:Atrial fibrillation.
//
ID Atrial fibrillation, familial, 17.
AC DI-04164
AR ATFB17.
DE A familial form of atrial fibrillation, a common sustained cardiac
DE rhythm disturbance. Atrial fibrillation is characterized by
DE disorganized atrial electrical activity and ineffective atrial
DE contraction promoting blood stasis in the atria and reduces
DE ventricular filling. It can result in palpitations, syncope,
DE thromboembolic stroke, and congestive heart failure.
DR MIM; 611819; phenotype.
DR MedGen; CN196901.
DR MeSH; D001281.
KW KW-1020:Atrial fibrillation.
//
ID Atrial fibrillation, familial, 18.
AC DI-04898
AR ATFB18.
DE A familial form of atrial fibrillation, a common sustained cardiac
DE rhythm disturbance. Atrial fibrillation is characterized by
DE disorganized atrial electrical activity and ineffective atrial
DE contraction promoting blood stasis in the atria and reduces
DE ventricular filling. It can result in palpitations, syncope,
DE thromboembolic stroke, and congestive heart failure.
DR MIM; 617280; phenotype.
DR MedGen; CN239939.
DR MeSH; D001281.
KW KW-1020:Atrial fibrillation.
//
ID Atrial fibrillation, familial, 3.
AC DI-00146
AR ATFB3.
DE An autosomal dominant form of atrial fibrillation, a common sustained
DE cardiac rhythm disturbance. Atrial fibrillation is characterized by
DE disorganized atrial electrical activity and ineffective atrial
DE contraction promoting blood stasis in the atria and reduces
DE ventricular filling. It can result in palpitations, syncope,
DE thromboembolic stroke, and congestive heart failure.
DR MIM; 607554; phenotype.
DR MedGen; C1837014.
DR MeSH; D001281.
KW KW-1020:Atrial fibrillation.
//
ID Atrial fibrillation, familial, 4.
AC DI-00147
AR ATFB4.
DE A familial form of atrial fibrillation, a common sustained cardiac
DE rhythm disturbance. Atrial fibrillation is characterized by
DE disorganized atrial electrical activity and ineffective atrial
DE contraction promoting blood stasis in the atria and reduces
DE ventricular filling. It can result in palpitations, syncope,
DE thromboembolic stroke, and congestive heart failure.
DR MIM; 611493; phenotype.
DR MedGen; C1862394.
DR MeSH; D001281.
KW KW-1020:Atrial fibrillation.
//
ID Atrial fibrillation, familial, 6.
AC DI-00148
AR ATFB6.
DE A familial form of atrial fibrillation, a common sustained cardiac
DE rhythm disturbance. Atrial fibrillation is characterized by
DE disorganized atrial electrical activity and ineffective atrial
DE contraction promoting blood stasis in the atria and reduces
DE ventricular filling. It can result in palpitations, syncope,
DE thromboembolic stroke, and congestive heart failure.
DR MIM; 612201; phenotype.
DR MedGen; C2677294.
DR MeSH; D001281.
KW KW-1020:Atrial fibrillation.
//
ID Atrial fibrillation, familial, 7.
AC DI-00149
AR ATFB7.
DE A familial form of atrial fibrillation, a common sustained cardiac
DE rhythm disturbance. Atrial fibrillation is characterized by
DE disorganized atrial electrical activity and ineffective atrial
DE contraction promoting blood stasis in the atria and reduces
DE ventricular filling. It can result in palpitations, syncope,
DE thromboembolic stroke, and congestive heart failure.
DR MIM; 612240; phenotype.
DR MedGen; C2677106.
DR MeSH; D001281.
KW KW-1020:Atrial fibrillation.
//
ID Atrial fibrillation, familial, 9.
AC DI-03121
AR ATFB9.
DE A familial form of atrial fibrillation, a common sustained cardiac
DE rhythm disturbance. Atrial fibrillation is characterized by
DE disorganized atrial electrical activity and ineffective atrial
DE contraction promoting blood stasis in the atria and reduces
DE ventricular filling. It can result in palpitations, syncope,
DE thromboembolic stroke, and congestive heart failure.
DR MIM; 613980; phenotype.
DR MedGen; C3151431.
DR MeSH; D001281.
KW KW-1020:Atrial fibrillation.
//
ID Atrial septal defect 2.
AC DI-00150
AR ASD2.
DE A congenital heart malformation characterized by incomplete closure of
DE the wall between the atria resulting in blood flow from the left to
DE the right atria. Patients show other heart abnormalities including
DE ventricular and atrioventricular septal defects, pulmonary valve
DE thickening or insufficiency of the cardiac valves. The disease is not
DE associated with defects in the cardiac conduction system or non-
DE cardiac abnormalities.
DR MIM; 607941; phenotype.
DR MedGen; C1842778.
DR MeSH; D006344.
KW KW-0976:Atrial septal defect.
//
ID Atrial septal defect 3.
AC DI-00151
AR ASD3.
DE A congenital heart malformation characterized by incomplete closure of
DE the wall between the atria resulting in blood flow from the left to
DE the right atria.
DR MIM; 614089; phenotype.
DR MedGen; C1834527.
DR MedGen; C3279790.
DR MeSH; D006344.
KW KW-0976:Atrial septal defect.
//
ID Atrial septal defect 4.
AC DI-00152
AR ASD4.
DE A congenital heart malformation characterized by incomplete closure of
DE the wall between the atria resulting in blood flow from the left to
DE the right atria. Patients show other heart abnormalities including
DE defects in septation, chamber growth and valvulogenesis. The disease
DE is not associated with defects in the cardiac conduction system or
DE with non-cardiac abnormalities.
DR MIM; 611363; phenotype.
DR MedGen; C1969657.
DR MeSH; D006344.
KW KW-0976:Atrial septal defect.
//
ID Atrial septal defect 5.
AC DI-02497
AR ASD5.
DE A congenital heart malformation characterized by incomplete closure of
DE the wall between the atria resulting in blood flow from the left to
DE the right atria.
DR MIM; 612794; phenotype.
DR MedGen; C2748552.
DR MeSH; D006344.
KW KW-0976:Atrial septal defect.
//
ID Atrial septal defect 6.
AC DI-02498
AR ASD6.
DE A congenital heart malformation characterized by incomplete closure of
DE the wall between the atria resulting in blood flow from the left to
DE the right atria.
DR MIM; 613087; phenotype.
DR MedGen; C2751315.
DR MeSH; D006344.
KW KW-0976:Atrial septal defect.
//
ID Atrial septal defect 7, with or without atrioventricular conduction defects.
AC DI-00153
AR ASD7.
DE A congenital heart malformation characterized by incomplete closure of
DE the wall between the atria resulting in blood flow from the left to
DE the right atria, and atrioventricular conduction defects in some
DE cases.
SY ASD with atrioventricular conduction defects.
SY ASD with or without atrioventricular conduction defects.
SY Atrial septal defect 7 with or without AV conduction defects.
DR MIM; 108900; phenotype.
DR MedGen; C1862388.
DR MedGen; C3276096.
DR MeSH; D006344.
KW KW-0976:Atrial septal defect.
//
ID Atrial septal defect 8.
AC DI-03333
AR ASD8.
DE A congenital heart malformation characterized by incomplete closure of
DE the wall between the atria resulting in blood flow from the left to
DE the right atria.
DR MIM; 614433; phenotype.
DR MedGen; C3280790.
DR MeSH; D006344.
KW KW-0976:Atrial septal defect.
//
ID Atrial septal defect 9.
AC DI-03370
AR ASD9.
DE A congenital heart malformation characterized by incomplete closure of
DE the wall between the atria resulting in blood flow from the left to
DE the right atria. Some patients manifest tricuspid valve disease,
DE pulmonary valve disease, and pulmonary artery hypertension.
DR MIM; 614475; phenotype.
DR MedGen; C3280943.
DR MeSH; D006344.
KW KW-0976:Atrial septal defect.
//
ID Atrial standstill 1.
AC DI-01557
AR ATRST1.
DE A rare arrhythmia characterized by the absence of electrical and
DE mechanical activity in the atria. Electrocardiographically, it is
DE characterized by bradycardia, the absence of P waves, and a junctional
DE narrow complex escape rhythm.
SY Atrial cardiomyopathy with heart block.
SY Familial cardiomyopathy with conduction disturbance.
DR MIM; 108770; phenotype.
DR MedGen; C1838539.
DR MeSH; D006327.
DR MeSH; D009202.
KW KW-0122:Cardiomyopathy.
//
ID Atrial standstill 2.
AC DI-04075
AR ATRST2.
DE A rare arrhythmia characterized by the absence of electrical and
DE mechanical activity in the atria. Electrocardiographically, it is
DE characterized by bradycardia, the absence of P waves, and a junctional
DE narrow complex escape rhythm.
SY Atrial dilated cardiomyopathy with atrial standstill.
SY Atrial dilation and standstill.
DR MIM; 615745; phenotype.
DR MedGen; C3810401.
DR MedGen; CN186043.
DR MeSH; D006327.
DR MeSH; D009202.
KW KW-0122:Cardiomyopathy.
//
ID Atrichia with papular lesions.
AC DI-00154
AR APL.
DE An autosomal recessive disease characterized by papillary lesions over
DE most of the body and almost complete absence of hair.
SY Congenital atrichia.
SY Papular atrichia.
DR MIM; 209500; phenotype.
DR MedGen; C1859592.
DR MeSH; D000505.
//
ID Atrioventricular septal defect 2.
AC DI-01195
AR AVSD2.
DE A congenital heart malformation characterized by a common
DE atrioventricular junction coexisting with deficient atrioventricular
DE septation. The complete form involves underdevelopment of the lower
DE part of the atrial septum and the upper part of the ventricular
DE septum; the valve itself is also shared. A less severe form, known as
DE ostium primum atrial septal defect, is characterized by separate
DE atrioventricular valvar orifices despite a common junction.
DR MIM; 606217; phenotype.
DR MedGen; C1853508.
DR MedGen; C1853509.
DR MeSH; D004694.
//
ID Atrioventricular septal defect 3.
AC DI-03196
AR AVSD3.
DE A congenital heart malformation characterized by a common
DE atrioventricular junction coexisting with deficient atrioventricular
DE septation. The complete form involves underdevelopment of the lower
DE part of the atrial septum and the upper part of the ventricular
DE septum; the valve itself is also shared. A less severe form, known as
DE ostium primum atrial septal defect, is characterized by separate
DE atrioventricular valvar orifices despite a common junction.
DR MIM; 600309; phenotype.
DR MedGen; C0344783.
DR MedGen; C3275750.
DR MeSH; D004694.
//
ID Atrioventricular septal defect 4.
AC DI-03332
AR AVSD4.
DE A congenital heart malformation characterized by a common
DE atrioventricular junction coexisting with deficient atrioventricular
DE septation. The complete form involves underdevelopment of the lower
DE part of the atrial septum and the upper part of the ventricular
DE septum; the valve itself is also shared. A less severe form, known as
DE ostium primum atrial septal defect, is characterized by separate
DE atrioventricular valvar orifices despite a common junction.
DR MIM; 614430; phenotype.
DR MedGen; C3280781.
DR MeSH; D004694.
//
ID Atrioventricular septal defect 5.
AC DI-03369
AR AVSD5.
DE A congenital heart malformation characterized by a common
DE atrioventricular junction coexisting with deficient atrioventricular
DE septation. The complete form involves underdevelopment of the lower
DE part of the atrial septum and the upper part of the ventricular
DE septum; the valve itself is also shared. A less severe form, known as
DE ostium primum atrial septal defect, is characterized by separate
DE atrioventricular valvar orifices despite a common junction.
DR MIM; 614474; phenotype.
DR MedGen; C3280939.
DR MeSH; D004694.
//
ID Attention deficit-hyperactivity disorder 7.
AC DI-02574
AR ADHD7.
DE A neurobehavioral developmental disorder primarily characterized by
DE the coexistence of attentional problems and hyperactivity, with each
DE behavior occurring infrequently alone.
DR MIM; 613003; phenotype.
DR MedGen; C2751802.
DR MeSH; D001289.
//
ID Au-Kline syndrome.
AC DI-04555
AR AUKS.
DE A disorder characterized by intellectual disability, facial
DE dysmorphism, cardiac defects, and connective tissue and skeletal
DE abnormalities. Dysmorphic features include long palpebral fissures,
DE ptosis, a broad prominent nasal bridge, hypoplastic alae nasi, an open
DE downturned mouth, ears with underdeveloped and thick helices, high
DE palate, and a unique tongue with a prominent median crease. Hypotonia,
DE hyporeflexia, and high pain tolerance are additional features.
DR MIM; 616580; phenotype.
DR MedGen; CN233135.
DR MeSH; D000015.
KW KW-0991:Intellectual disability.
//
ID Auditory neuropathy and optic atrophy.
AC DI-05116
AR ANOA.
DE An autosomal recessive disease characterized by hearing loss, visual
DE impairment and optic atrophy, with onset in the first or second
DE decades of life. Optic atrophy is caused by degeneration of nerve
DE fibers which arise in the retina and converge to form the optic disk,
DE optic nerve, optic chiasm and optic tracts.
DR MIM; 617717; phenotype.
DR MedGen; CN533577.
DR MeSH; D015418.
DR MeSH; D034381.
KW KW-0209:Deafness.
KW KW-0622:Neuropathy.
//
ID Auditory neuropathy, autosomal dominant, 1.
AC DI-03423
AR AUNA1.
DE A form of sensorineural hearing loss with absent or severely abnormal
DE auditory brainstem response, in the presence of normal cochlear outer
DE hair cell function and normal otoacoustic emissions. Auditory
DE neuropathies result from a lesion in the area including the inner hair
DE cells, connections between the inner hair cells and the cochlear
DE branch of the auditory nerve, the auditory nerve itself and auditory
DE pathways of the brainstem.
SY Nonsyndromic auditory neuropathy autosomal dominant.
SY NSDAN.
DR MIM; 609129; phenotype.
DR MedGen; C1836743.
DR MeSH; D006319.
KW KW-0622:Neuropathy.
KW KW-1010:Non-syndromic deafness.
//
ID Auditory neuropathy, autosomal recessive, 1.
AC DI-02064
AR AUNB1.
DE A form of sensorineural hearing loss with absent or severely abnormal
DE auditory brainstem response, in the presence of normal cochlear outer
DE hair cell function and normal otoacoustic emissions. Auditory
DE neuropathies result from a lesion in the area including the inner hair
DE cells, connections between the inner hair cells and the cochlear
DE branch of the auditory nerve, the auditory nerve itself and auditory
DE pathways of the brainstem. In some cases AUNB1 phenotype can be
DE temperature sensitive.
SY Nonsyndromic auditory neuropathy autosomal recessive.
SY NSRAN.
DR MIM; 601071; phenotype.
DR MedGen; C1832829.
DR MedGen; C1832830.
DR MeSH; D006319.
KW KW-0622:Neuropathy.
KW KW-1010:Non-syndromic deafness.
//
ID Aural atresia, congenital.
AC DI-03316
AR CAA.
DE A rare anomaly of the ear that involves some degree of failure of the
DE development of the external auditory canal. The malformation can also
DE involve the tympanic membrane, ossicles and middle ear space. The
DE inner ear development is most often normal. Different CAA forms are
DE known. CAA type I is characterized by bony or fibrous atresia of the
DE lateral part of the external auditory canal and an almost normal
DE medial part and middle ear. CAA type II is the most frequent type and
DE is characterized by partial or total aplasia of the external auditory
DE canal. CAA type IIA involves an external auditory canal with either
DE complete bony atresia of the medial part or partial aplasia that ends
DE blindly in a fistula leading to a rudimentary tympanic membrane. CAA
DE type IIB is characterized by bony stenosis of the total length of the
DE external auditory canal. CAA type III involves bony atresia of the
DE external auditory canal and a very small or absent middle-ear cavity.
SY Aural atresia, congenital, with hyposmia.
DR MIM; 607842; phenotype.
DR MedGen; C1842937.
DR MeSH; D006314.
//
ID Auriculocondylar syndrome 1.
AC DI-03467
AR ARCND1.
DE An autosomal dominant craniofacial malformation syndrome characterized
DE by variable mandibular anomalies, including mild to severe
DE micrognathia, temporomandibular joint ankylosis, cleft palate, and a
DE characteristic ear malformation that consists of separation of the
DE lobule from the external ear, giving the appearance of a question mark
DE (question-mark ear). Other frequently described features include
DE prominent cheeks, cupped and posteriorly rotated ears, preauricular
DE tags, and microstomia.
SY ACS.
SY Dysgnathia complex.
SY Question mark ears syndrome.
DR MIM; 602483; phenotype.
DR MedGen; C1865295.
DR MeSH; D004427.
DR MeSH; D018640.
//
ID Auriculocondylar syndrome 2.
AC DI-03468
AR ARCND2.
DE A craniofacial malformation syndrome characterized by variable
DE mandibular anomalies, including mild to severe micrognathia,
DE temporomandibular joint ankylosis, cleft palate, and a characteristic
DE ear malformation that consists of separation of the lobule from the
DE external ear, giving the appearance of a question mark (question-mark
DE ear). Other frequently described features include prominent cheeks,
DE cupped and posteriorly rotated ears, preauricular tags, and
DE microstomia.
DR MIM; 614669; phenotype.
DR MedGen; C3553404.
DR MedGen; CN128706.
DR MeSH; D004427.
DR MeSH; D018640.
//
ID Auriculocondylar syndrome 3.
AC DI-04052
AR ARCND3.
DE A craniofacial malformation syndrome characterized by variable
DE mandibular anomalies, including mild to severe micrognathia,
DE temporomandibular joint ankylosis, cleft palate, and a characteristic
DE ear malformation that consists of separation of the lobule from the
DE external ear, giving the appearance of a question mark (question-mark
DE ear). Other frequently described features include prominent cheeks,
DE cupped and posteriorly rotated ears, preauricular tags, and
DE microstomia.
DR MIM; 615706; phenotype.
DR MedGen; C3810332.
DR MedGen; CN185375.
DR MeSH; D004427.
DR MeSH; D018640.
//
ID Autism 15.
AC DI-02792
AR AUTS15.
DE A complex multifactorial, pervasive developmental disorder
DE characterized by impairments in reciprocal social interaction and
DE communication, restricted and stereotyped patterns of interests and
DE activities, and the presence of developmental abnormalities by 3 years
DE of age. Most individuals with autism also manifest moderate
DE intellectual disability.
DR MIM; 612100; phenotype.
DR MedGen; C2677504.
DR MeSH; D001321.
KW KW-1269:Autism.
//
ID Autism 16.
AC DI-02793
AR AUTS16.
DE A complex multifactorial, pervasive developmental disorder
DE characterized by impairments in reciprocal social interaction and
DE communication, restricted and stereotyped patterns of interests and
DE activities, and the presence of developmental abnormalities by 3 years
DE of age. Most individuals with autism also manifest moderate
DE intellectual disability. AUTS16 can be associated with epilepsy.
SY Autism with or without seizures.
DR MIM; 613410; phenotype.
DR MedGen; C3150677.
DR MeSH; D001321.
KW KW-1269:Autism.
//
ID Autism 17.
AC DI-02794
AR AUTS17.
DE A complex multifactorial, pervasive developmental disorder
DE characterized by impairments in reciprocal social interaction and
DE communication, restricted and stereotyped patterns of interests and
DE activities, and the presence of developmental abnormalities by 3 years
DE of age. Most individuals with autism also manifest moderate
DE intellectual disability.
DR MIM; 613436; phenotype.
DR MedGen; C3150693.
DR MeSH; D001321.
KW KW-1269:Autism.
//
ID Autism 18.
AC DI-03675
AR AUTS18.
DE A complex multifactorial, pervasive developmental disorder
DE characterized by impairments in reciprocal social interaction and
DE communication, restricted and stereotyped patterns of interests and
DE activities, and the presence of developmental abnormalities by 3 years
DE of age. Most individuals with autism also manifest moderate
DE intellectual disability.
DR MIM; 615032; phenotype.
DR MedGen; C3554373.
DR MedGen; CN164590.
DR MeSH; D001321.
KW KW-1269:Autism.
//
ID Autism 19.
AC DI-03649
AR AUTS19.
DE A complex multifactorial, pervasive developmental disorder
DE characterized by impairments in reciprocal social interaction and
DE communication, restricted and stereotyped patterns of interests and
DE activities, and the presence of developmental abnormalities by 3 years
DE of age. Most individuals with autism also manifest moderate
DE intellectual disability.
DR MIM; 615091; phenotype.
DR MedGen; C3554495.
DR MedGen; CN165707.
DR MeSH; D001321.
KW KW-1269:Autism.
//
ID Autism 20.
AC DI-05821
AR AUTS20.
DE A complex multifactorial, pervasive developmental disorder
DE characterized by impairments in reciprocal social interaction and
DE communication, restricted and stereotyped patterns of interests and
DE activities, and the presence of developmental abnormalities by 3 years
DE of age. Most individuals with autism also manifest moderate
DE intellectual disability. The transmission pattern of AUTS20 is
DE consistent with autosomal dominant inheritance.
DR MIM; 618830; phenotype.
DR MedGen; CN280925.
DR MeSH; D001321.
KW KW-1269:Autism.
//
ID Autism, X-linked 1.
AC DI-02431
AR AUTSX1.
DE A complex multifactorial, pervasive developmental disorder
DE characterized by impairments in reciprocal social interaction and
DE communication, restricted and stereotyped patterns of interests and
DE activities, and the presence of developmental abnormalities by 3 years
DE of age. Most individuals with autism also manifest moderate
DE intellectual disability.
DR MIM; 300425; phenotype.
DR MedGen; C1845540.
DR MeSH; D001321.
KW KW-1269:Autism.
//
ID Autism, X-linked 2.
AC DI-02432
AR AUTSX2.
DE A complex multifactorial, pervasive developmental disorder
DE characterized by impairments in reciprocal social interaction and
DE communication, restricted and stereotyped patterns of interests and
DE activities, and the presence of developmental abnormalities by 3 years
DE of age. Most individuals with autism also manifest moderate
DE intellectual disability.
SY Intellectual developmental disorder, X-linked.
DR MIM; 300495; phenotype.
DR MedGen; C1845539.
DR MeSH; D001321.
KW KW-1269:Autism.
//
ID Autism, X-linked 3.
AC DI-02433
AR AUTSX3.
DE A complex multifactorial, pervasive developmental disorder
DE characterized by impairments in reciprocal social interaction and
DE communication, restricted and stereotyped patterns of interests and
DE activities, and the presence of developmental abnormalities by 3 years
DE of age. Most individuals with autism also manifest moderate
DE intellectual disability.
DR MIM; 300496; phenotype.
DR MedGen; C1845336.
DR MeSH; D001321.
KW KW-1269:Autism.
//
ID Autism, X-linked 4.
AC DI-04536
AR AUTSX4.
DE A complex multifactorial, pervasive developmental disorder
DE characterized by impairments in reciprocal social interaction and
DE communication, restricted and stereotyped patterns of interests and
DE activities, and the presence of developmental abnormalities by 3 years
DE of age. Most individuals with autism also manifest moderate
DE intellectual disability.
SY Chromosome Xp22 deletion syndrome.
DR MIM; 300830; phenotype.
DR MedGen; C0795888.
DR MeSH; D001321.
KW KW-1269:Autism.
//
ID Autism, X-linked 5.
AC DI-03140
AR AUTSX5.
DE A complex multifactorial, pervasive developmental disorder
DE characterized by impairments in reciprocal social interaction and
DE communication, restricted and stereotyped patterns of interests and
DE activities, and the presence of developmental abnormalities by 3 years
DE of age. Most individuals with autism also manifest moderate
DE intellectual disability.
DR MIM; 300847; phenotype.
DR MedGen; C3275438.
DR MeSH; D001321.
KW KW-1269:Autism.
//
ID Autism, X-linked 6.
AC DI-03482
AR AUTSX6.
DE A form of autism, a complex multifactorial, pervasive developmental
DE disorder characterized by impairments in reciprocal social interaction
DE and communication, restricted and stereotyped patterns of interests
DE and activities, and the presence of developmental abnormalities by 3
DE years of age. Most individuals with autism also manifest moderate
DE intellectual disability. AUTSX6 patients may respond favorably to
DE carnitine supplementation.
SY Epsilon-trimethyllysine hydroxylase deficiency.
SY TMLHED.
DR MIM; 300872; phenotype.
DR MedGen; C3550875.
DR MedGen; CN130016.
DR MeSH; D001321.
DR MeSH; D008661.
KW KW-1269:Autism.
//
ID Autoimmune disease 1.
AC DI-02737
AR AIS1.
DE An autoimmune disorder characterized by the association of vitiligo
DE with autoimmune thyroiditis (Hashimoto thyroiditis).
SY Autoimmune disease susceptibility 1.
SY Autoimmune disease susceptibility locus chromosome 1p-related.
SY VAMAS2.
SY Vitiligo-associated multiple autoimmune disease susceptibility 2.
SY Vitiligo-associated multiple autoimmune disease type 2.
DR MIM; 607836; phenotype.
DR MedGen; C1842979.
DR MeSH; D001327.
//
ID Autoimmune disease 6.
AC DI-02927
AR AIS6.
DE Individuals manifesting susceptibility to autoimmune disease type 6
DE can suffer from juvenile idiopathic arthritis, rheumatoid arthritis,
DE multiple sclerosis, Sjogren syndrome, systemic lupus erythematosus,
DE type 1 diabetes, ulcerative colitis, and Crohn disease.
SY Autoimmune disease susceptibility 6.
DR MIM; 613551; phenotype.
DR MedGen; C3150797.
DR MeSH; D001327.
//
ID Autoimmune disease, multisystem, infantile-onset, 1.
AC DI-04194
AR ADMIO1.
DE A disorder characterized by early childhood onset of a spectrum of
DE autoimmune manifestations affecting multiple organs, including
DE insulin-dependent diabetes mellitus and autoimmune enteropathy or
DE celiac disease. Other features include short stature, non-specific
DE dermatitis, hypothyroidism, autoimmune arthritis, and delayed puberty.
DR MIM; 615952; phenotype.
DR MedGen; CN207828.
DR MeSH; D001327.
KW KW-0219:Diabetes mellitus.
KW KW-0242:Dwarfism.
//
ID Autoimmune disease, multisystem, infantile-onset, 2.
AC DI-04749
AR ADMIO2.
DE An autosomal recessive, autoimmune disorder characterized by systemic
DE manifestations including blistering skin disease, uncontrollable
DE bullous pemphigoid, inflammatory colitis, autoimmune hypothyroidism,
DE proteinuria and nephrotic syndrome.
DR MIM; 617006; phenotype.
DR MedGen; CN236826.
DR MeSH; D001327.
//
ID Autoimmune disease, multisystem, with facial dysmorphism.
AC DI-02639
AR ADMFD.
DE A disorder characterized by organomegaly, failure to thrive,
DE developmental delay, dysmorphic features and autoimmune inflammatory
DE cell infiltration of the lungs, liver and gut.
SY Syndromic multisystem autoimmune disease.
DR MIM; 613385; phenotype.
DR MedGen; C3150649.
DR MeSH; D001327.
//
ID Autoimmune interstitial lung, joint, and kidney disease.
AC DI-04454
AR AILJK.
DE An autoimmune disease characterized by inflammatory arthritis,
DE interstitial lung disease, and immune complex-mediated renal disease.
DR MIM; 616414; phenotype.
DR MedGen; C0231330.
DR MeSH; D001327.
//
ID Autoimmune lymphoproliferative syndrome 1A.
AC DI-00155
AR ALPS1A.
DE A disorder of apoptosis that manifests in early childhood and results
DE in the accumulation of autoreactive lymphocytes. It is characterized
DE by non-malignant lymphadenopathy with hepatosplenomegaly, and
DE autoimmune hemolytic anemia, thrombocytopenia and neutropenia.
SY Autoimmune lymphoproliferative syndrome type IA.
SY Canale-Smith syndrome.
SY CSS.
DR MIM; 601859; phenotype.
DR MedGen; C1866119.
DR MedGen; C1866121.
DR MeSH; D056735.
//
ID Autoimmune lymphoproliferative syndrome 1B.
AC DI-00156
AR ALPS1B.
DE A disorder of apoptosis that manifests in early childhood and results
DE in the accumulation of autoreactive lymphocytes. It is characterized
DE by non-malignant lymphadenopathy with hepatosplenomegaly, and
DE autoimmune hemolytic anemia, thrombocytopenia and neutropenia.
SY Autoimmune lymphoproliferative syndrome type IB.
SY Canale-Smith syndrome.
SY CSS.
DR MIM; 601859; phenotype.
DR MedGen; C1866120.
DR MedGen; C1866121.
DR MeSH; D056735.
//
ID Autoimmune lymphoproliferative syndrome 2A.
AC DI-00157
AR ALPS2A.
DE A disorder of apoptosis that manifests in early childhood and results
DE in the accumulation of autoreactive lymphocytes. It is characterized
DE by non-malignant lymphadenopathy with hepatosplenomegaly, and
DE autoimmune hemolytic anemia, thrombocytopenia and neutropenia.
SY ALPS2.
SY Autoimmune lymphoproliferative syndrome, type II.
SY Autoimmune lymphoproliferative syndrome type IIA.
DR MIM; 603909; phenotype.
DR MedGen; C1858968.
DR MeSH; D056735.
//
ID Autoimmune lymphoproliferative syndrome 3.
AC DI-03976
AR ALPS3.
DE A primary immunodeficiency characterized by antibody deficiency,
DE hypogammaglobulinemia, recurrent bacterial infections and an inability
DE to mount an antibody response to antigen. The defect results from a
DE failure of B-cell differentiation and impaired secretion of
DE immunoglobulins; the numbers of circulating B-cells is usually in the
DE normal range, but can be low. CVID9 patients have B-cell deficiency
DE and severe autoimmunity.
SY Autoimmune lymphoproliferative syndrome, type III.
SY CVID9.
SY Immunodeficiency, common variable, 9.
DR MIM; 615559; phenotype.
DR MedGen; CN182401.
DR MeSH; D017074.
//
ID Autoimmune lymphoproliferative syndrome 5.
AC DI-04302
AR ALPS5.
DE An autosomal dominant primary immunodeficiency characterized by severe
DE autoimmunity, infiltration of non-lymphoid organs, such as the
DE intestine, lungs and brain, by hyperactive T cells and B cells,
DE autoimmune cytopenias, and hypogammaglobulinemia in early childhood.
SY Autoimmune lymphoproliferative syndrome type V.
DR MIM; 616100; phenotype.
DR MedGen; CN221537.
DR MeSH; D008232.
//
ID Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia.
AC DI-01198
AR APS1.
DE A rare disease characterized by the combination of chronic
DE mucocutaneous candidiasis, hypoparathyroidism and Addison disease.
DE Symptoms of mucocutaneous candidiasis manifest first, followed by
DE hypotension or fatigue occurring as a result of Addison disease. APS1
DE is associated with other autoimmune disorders including diabetes
DE mellitus, vitiligo, alopecia, hepatitis, pernicious anemia and primary
DE hypothyroidism.
SY APECED.
SY APS-1.
SY Autoimmune polyendocrine syndrome type I.
SY Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
SY Autoimmune polyendocrinopathy syndrome type I.
SY Autosomal dominant autoimmune polyendocrinopathy syndrome type I.
SY Hypoadrenocorticism with hypoparathyroidism and superficial moniliasis.
SY PGA I.
SY Polyglandular autoimmune syndrome type I.
SY Polyglandular deficiency syndrome Persian-Jewish type.
SY Whitaker syndrome.
DR MIM; 240300; phenotype.
DR MedGen; C0085859.
DR MedGen; C1855868.
DR MedGen; C1855869.
DR MedGen; C2749602.
DR MedGen; CN068638.
DR MeSH; D016884.
//
ID Autoimmune thyroid disease 3.
AC DI-02878
AR AITD3.
DE A complex autoimmune disorder comprising two related diseases
DE affecting the thyroid: Graves disease and Hashimoto thyroiditis. In
DE both disorders, thyroid-reactive T-cells are formed and infiltrate the
DE thyroid gland. In Graves disease, the majority of the T-cells undergo
DE a Th2 differentiation and activate B-cells to produce antibodies
DE against the TSH receptor, which stimulate the thyroid and cause
DE clinical hyperthyroidism. In contrast, Hashimoto thyroiditis is
DE characterized by Th1 switching of the thyroid-infiltrating T-cells,
DE which induces apoptosis of thyroid follicular cells and clinical
DE hypothyroidism.
DR MIM; 608175; phenotype.
DR MedGen; C1842444.
DR MeSH; D006111.
DR MeSH; D013959.
DR MeSH; D013967.
//
ID Autoinflammation with arthritis and dyskeratosis.
AC DI-04967
AR AIADK.
DE A disorder characterized by recurrent fever, diffuse skin
DE dyskeratosis, autoinflammation, autoimmunity, arthritis and high
DE transitional B-cell level. Inheritance can be autosomal dominant or
DE autosomal recessive.
DR MIM; 617388; phenotype.
DR MedGen; CN240904.
DR MeSH; D012873.
DR MeSH; D056660.
//
ID Autoinflammation with episodic fever and lymphadenopathy.
AC DI-05817
AR AIEFL.
DE An autosomal dominant immunologic disorder characterized by early
DE onset of recurrent episodes of unexplained fever, lymphadenopathy,
DE hepatosplenomegaly, and increased levels of inflammatory cytokines and
DE chemokines in patient serum.
SY Cleavage-resistant RIPK1-induced autoinflammatory syndrome.
SY CRIA syndrome.
DR MIM; 618852; phenotype.
DR MedGen; CN280858.
DR MeSH; D056660.
//
ID Autoinflammation with infantile enterocolitis.
AC DI-04246
AR AIFEC.
DE An autosomal dominant disorder characterized by neonatal-onset
DE enterocolitis, periodic fever, and fatal or near-fatal episodes of
DE autoinflammation. Affected individuals tend to have poor overall
DE growth and gastrointestinal symptoms in infancy, recurrent febrile
DE episodes with splenomegaly, and sometimes hematologic disturbances,
DE arthralgias, or myalgias.
DR MIM; 616050; phenotype.
DR MedGen; CN220130.
DR MeSH; D004760.
DR MeSH; D056660.
//
ID Autoinflammation, antibody deficiency, and immune dysregulation.
AC DI-03601
AR APLAID.
DE An autosomal dominant systemic disorder characterized by recurrent
DE blistering skin lesions with a dense inflammatory infiltrate and
DE variable involvement of other tissues, including joints, the eye, and
DE the gastrointestinal tract. Affected individuals have a mild humoral
DE immune deficiency associated with recurrent sinopulmonary infections,
DE but no evidence of circulating autoantibodies.
DR MIM; 614878; phenotype.
DR MedGen; C3553961.
DR MedGen; CN158804.
DR MeSH; D007153.
//
ID Autoinflammation, immune dysregulation, and eosinophilia.
AC DI-05905
AR AIIDE.
DE An autosomal dominant disorder characterized by immune dysregulation,
DE severe atopic dermatitis, and chronic gastrointestinal inflammation.
DE Additional features include asthma, food or environmental allergies,
DE as well as poor overall growth with short stature.
SY Atopic dermatitis, enteritis, colitis, and eosinophilia.
DR MIM; 618999; phenotype.
DR MedGen; CN283344.
DR MeSH; D005759.
DR MeSH; D056660.
//
ID Autoinflammation, panniculitis, and dermatosis syndrome.
AC DI-04791
AR AIPDS.
DE An autosomal recessive autoinflammatory disorder characterized by
DE neonatal-onset of fever, neutrophilic dermatitis, panniculitis,
DE painful joints, failure to thrive. Patients do not exhibit overt
DE primary immunodeficiency.
SY ORAS.
SY Otulin-related autoinflammatory syndrome.
SY Otulipenia.
DR MIM; 617099; phenotype.
DR MedGen; CN238359.
DR MeSH; D003872.
DR MeSH; D015434.
DR MeSH; D056660.
//
ID Autoinflammatory syndrome, familial, Behcet-like.
AC DI-04635
AR AISBL.
DE An autosomal dominant, autoinflammatory disorder with early onset,
DE characterized by ulceration of mucosal surfaces, particularly in the
DE oral and genital areas. Additional variable features include skin
DE rash, uveitis, and polyarthritis.
DR MIM; 616744; phenotype.
DR MedGen; CN234876.
DR MeSH; D056660.
//
ID Autoinflammatory syndrome, familial, with or without immunodeficiency.
AC DI-06141
AR AISIMD.
DE An autosomal dominant, autoinflammatory disorder with incomplete
DE penetrance characterized by autoimmune cytopenia, hemolytic anemia,
DE thrombocytopenia, and lymphadenopathy. Additional variable features
DE may include autoimmune thyroiditis, psoriasis or eczema, nephritis,
DE hepatitis, and symptoms of systemic lupus erythematosus.
DE Immunodeficiency is present in some patients. Disease onset is usually
DE in the first decades of life, although later onset has been reported.
DR MIM; 619375; phenotype.
DR MedGen; CN297552.
DR MeSH; D056660.
//
ID Avascular necrosis of femoral head, primary, 1.
AC DI-02197
AR ANFH1.
DE A disease characterized by mechanical failure of the subchondral bone,
DE and degeneration of the hip joint. It usually leads to destruction of
DE the hip joint in the third to fifth decade of life. The clinical
DE manifestations, such as pain on exertion, a limping gait, and a
DE discrepancy in leg length, cause considerable disability. ANFH1
DE inheritance is autosomal dominant.
SY Aseptic necrosis of femoral head.
SY Avascular necrosis of femoral head.
SY Ischemic necrosis of femoral head.
SY Osteonecrosis of femoral head.
DR MIM; 608805; phenotype.
DR MedGen; C0410480.
DR MeSH; D005271.
//
ID Avascular necrosis of the femoral head, primary 2.
AC DI-04965
AR ANFH2.
DE A disease characterized by mechanical failure of the subchondral bone,
DE and degeneration of the hip joint. It usually leads to destruction of
DE the hip joint in the third to fifth decade of life. The clinical
DE manifestations, such as pain on exertion, a limping gait, and a
DE discrepancy in leg length, cause considerable disability.
DR MIM; 617383; phenotype.
DR MedGen; CN240839.
DR MeSH; D005271.
//
ID Axenfeld-Rieger syndrome 1.
AC DI-01265
AR RIEG1.
DE An autosomal dominant disorder of morphogenesis that results in
DE abnormal development of the anterior segment of the eye, and results
DE in blindness from glaucoma in approximately 50% of affected
DE individuals. Additional features include aniridia, maxillary
DE hypoplasia, hypodontia, anal stenosis, redundant periumbilical skin.
SY Iridogoniodysgenesis with somatic anomalies.
SY RGS.
SY RIEG.
SY Rieger syndrome type 1.
DR MIM; 180500; phenotype.
DR MedGen; C3495488.
DR MedGen; CN029264.
DR MeSH; D005124.
//
ID Axenfeld-Rieger syndrome 3.
AC DI-01266
AR RIEG3.
DE An autosomal dominant disorder of morphogenesis that results in
DE abnormal development of the anterior segment of the eye, and results
DE in blindness from glaucoma in approximately 50% of affected
DE individuals. Features include posterior corneal embryotoxon, prominent
DE Schwalbe line and iris adhesion to the Schwalbe line, hypertelorism,
DE hypodontia, sensorineural deafness, redundant periumbilical skin, and
DE cardiovascular defects such as patent ductus arteriosus and atrial
DE septal defect. When associated with tooth anomalies, the disorder is
DE known as Rieger syndrome.
SY Anterior chamber cleavage syndrome.
SY Anterior segment mesenchymal dysgenesis.
SY Axenfeld anomaly.
SY Axenfeld-Rieger anomaly.
SY Axenfeld-Rieger anomaly with cardiac defects and/or sensorineural hearing loss.
SY Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss.
SY Rieger anomaly.
SY Rieger syndrome type 3.
DR MIM; 602482; phenotype.
DR MedGen; C0266548.
DR MedGen; C2676985.
DR MedGen; C2678503.
DR MeSH; D005124.
DR MeSH; D006319.
DR MeSH; D006330.
KW KW-0209:Deafness.
//
ID Ayme-Gripp syndrome.
AC DI-04468
AR AYGRP.
DE A multisystem disorder characterized by congenital cataracts,
DE sensorineural deafness, intellectual disability, seizures,
DE brachycephaly, distinctive flat facial appearance, skeletal anomalies,
DE mammary gland hypoplasia, and reduced growth.
DR MIM; 601088; phenotype.
DR MedGen; C1832812.
DR MeSH; D002386.
DR MeSH; D006130.
DR MeSH; D006319.
DR MeSH; D008607.
DR MeSH; D019066.
KW KW-0209:Deafness.
KW KW-0242:Dwarfism.
KW KW-0898:Cataract.
KW KW-0991:Intellectual disability.
//
ID Azoospermia, obstructive, with nephrolithiasis.
AC DI-06054
AR OAZON.
DE An X-linked recessive, male infertility disorder characterized by
DE epidydimal obstruction, hypercalciuria and kidney stones.
DR MIM; 301060; phenotype.
DR MedGen; CN295913.
DR MeSH; D007248.
DR MeSH; D053040.
//
ID B-cell expansion with NFKB and T-cell anergy.
AC DI-04476
AR BENTA.
DE An autosomal dominant condition characterized by onset in infancy of
DE splenomegaly and polyclonal expansion of B cells, resulting in
DE peripheral lymphocytosis. Affected individuals also show mild immune
DE dysfunction, including some defective antibody responses and T-cell
DE anergy. There may be a predisposition to the development of B-cell
DE malignancy.
DR MIM; 616452; phenotype.
DR MedGen; CN231446.
DR MeSH; D008218.
//
ID B-cell immunodeficiency, distal limb anomalies, and urogenital malformations.
AC DI-06278
AR BILU.
DE An autosomal dominant disorder characterized by humoral
DE immunodeficiency with undetectable B cells, distal limb anomalies,
DE dysmorphic facial features, and urogenital malformations.
SY BILU syndrome.
SY Hoffman syndrome.
DR MIM; 609296; phenotype.
DR MedGen; C1836437.
DR MeSH; D000015.
DR MeSH; D007153.
//
ID Bachmann-Bupp syndrome.
AC DI-05945
AR BABS.
DE An autosomal dominant disorder characterized by global developmental
DE delay, alopecia, absolute or relative macrocephaly, and facial
DE dysmorphism. Neuroimaging shows white matter abnormalities, prominent
DE Virchow-Robin spaces, periventricular cysts, and abnormalities of the
DE corpus callosum.
SY NEDABA.
SY Neurodevelopmental disorder with alopecia and brain abnormalities.
DR MIM; 619075; phenotype.
DR MedGen; CN295154.
DR MeSH; D065886.
KW KW-1063:Hypotrichosis.
//
ID Bainbridge-Ropers syndrome.
AC DI-03920
AR BRPS.
DE A syndrome characterized by psychomotor retardation, feeding problems,
DE severe postnatal growth retardation in some patients, arched eyebrows,
DE anteverted nares, and ulnar deviation of the hands.
DR MIM; 615485; phenotype.
DR MedGen; C3809650.
DR MedGen; CN180235.
DR MeSH; D000015.
//
ID Baker-Gordon syndrome.
AC DI-05432
AR BAGOS.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE infantile hypotonia, congenital ophthalmic abnormalities, involuntary
DE and hyperkinetic movements, stereotypic behavior, poor or absent
DE speech, EEG abnormalities, and global developmental delay varying in
DE severity from moderate to profound. Behavioral characteristics include
DE sleep disturbance and episodic agitation.
SY NEDIMAE.
SY Neurodevelopmental disorder with involuntary movement and abnormal electroencephalogram.
DR MIM; 618218; phenotype.
DR MedGen; CN257498.
DR MeSH; D065886.
//
ID Baller-Gerold syndrome.
AC DI-00158
AR BGS.
DE An autosomal recessive syndrome characterized by short stature,
DE craniosynostosis, absent or hypoplastic radii, short and curved ulna,
DE fused carpal bones and absent carpals, metacarpals and phalanges. Some
DE patients manifest poikiloderma. Cases reported as Baller-Gerold
DE syndrome have phenotypic overlap with several other disorders,
DE including Saethre-Chotzen syndrome.
SY Craniosynostosis-radial aplasia syndrome.
SY Craniosynostosis with radial defects.
DR MIM; 218600; phenotype.
DR MedGen; C0265308.
DR MeSH; D003398.
KW KW-0242:Dwarfism.
KW KW-0989:Craniosynostosis.
//
ID Bamforth-Lazarus syndrome.
AC DI-01267
AR BLS.
DE A disease characterized by thyroid agenesis, cleft palate and choanal
DE atresia.
SY Athyroidal hypothyroidism with spiky hair and cleft palate.
DR MIM; 241850; phenotype.
DR MedGen; C1855794.
DR MedGen; C1968699.
DR MeSH; D002972.
DR MeSH; D006201.
DR MeSH; D007037.
//
ID Band heterotopia.
AC DI-04829
AR BH.
DE A brain malformation of the lissencephaly spectrum, resulting from
DE disordered neuronal migration and characterized by bands of gray
DE matter interposed in the central white matter. Disease features
DE include severe developmental delay with intellectual disability,
DE enlarged head circumference, periventricular and ribbon-like
DE subcortical heterotopia, polymicrogyria and agenesis of the corpus
DE callosum.
SY Band heterotopia of brain.
DR MIM; 600348; phenotype.
DR MedGen; C1838239.
DR MeSH; D054221.
KW KW-0451:Lissencephaly.
//
ID Baraitser-Winter syndrome 1.
AC DI-03416
AR BRWS1.
DE A rare developmental disorder characterized by the combination of
DE congenital ptosis, high-arched eyebrows, hypertelorism, ocular
DE colobomata, and a brain malformation consisting of anterior-
DE predominant lissencephaly. Other typical features include postnatal
DE short stature and microcephaly, intellectual disability, seizures, and
DE hearing loss.
SY Cerebrofrontofacial syndrome.
SY Cerebrooculofacial lymphatic syndrome.
SY Chromosome 7p22 deletion syndrome.
SY COFLS.
SY Fryns-Aftimos syndrome.
DR MIM; 243310; phenotype.
DR MedGen; C1855722.
DR MeSH; D001763.
DR MeSH; D003103.
DR MeSH; D006972.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Baraitser-Winter syndrome 2.
AC DI-03417
AR BRWS2.
DE A rare developmental disorder characterized by the combination of
DE congenital ptosis, high-arched eyebrows, hypertelorism, ocular
DE colobomata, and a brain malformation consisting of anterior-
DE predominant lissencephaly. Other typical features include postnatal
DE short stature and microcephaly, intellectual disability, seizures, and
DE hearing loss.
DR MIM; 614583; phenotype.
DR MedGen; C3281235.
DR MeSH; D001763.
DR MeSH; D003103.
DR MeSH; D006972.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Baralle-Macken syndrome.
AC DI-06071
AR BARMACS.
DE An autosomal recessive disorder characterized by global developmental
DE delay, impaired intellectual development, poor or absent speech, and
DE difficulty walking or inability to walk. Affected individuals have
DE early-onset cataracts. Additional variable features are microcephaly,
DE facial dysmorphism, metabolic abnormalities, spasticity, and
DE lymphopenia.
SY Neurodevelopmental disorder with cataracts and variable microcephaly.
DR MIM; 619255; phenotype.
DR MedGen; CN296196.
DR MeSH; D065886.
KW KW-0898:Cataract.
KW KW-0991:Intellectual disability.
//
ID Barber-Say syndrome.
AC DI-04543
AR BBRSAY.
DE A rare ectodermal dysplasia characterized by ectropion, macrostomia,
DE ear abnormalities, broad nasal bridge, bulbous nose, redundant skin,
DE hypertrichosis, dental abnormalities, and variable other features.
SY BSS.
SY Hypertrichosis, atrophic skin, ectropion, and macrostomia.
DR MIM; 209885; phenotype.
DR MedGen; C1319466.
DR MeSH; D005141.
DR MeSH; D006983.
DR MeSH; D008265.
DR MeSH; D012868.
KW KW-0038:Ectodermal dysplasia.
//
ID Bardet-Biedl syndrome.
AC DI-03107
AR BBS.
DE A syndrome characterized by usually severe pigmentary retinopathy,
DE early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE and intellectual disability. Secondary features include diabetes
DE mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE syndrome inheritance is autosomal recessive, but three mutated alleles
DE (two at one locus, and a third at a second locus) may be required for
DE clinical manifestation of some forms of the disease.
SY Laurence-Moon-Bardet-Biedl Syndrome.
DR MIM; 209900; phenotype.
DR MedGen; C0752166.
DR MeSH; D020788.
KW KW-0083:Bardet-Biedl syndrome.
KW KW-0550:Obesity.
//
ID Bardet-Biedl syndrome 1.
AC DI-00159
AR BBS1.
DE A syndrome characterized by usually severe pigmentary retinopathy,
DE early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE and intellectual disability. Secondary features include diabetes
DE mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE syndrome inheritance is autosomal recessive, but three mutated alleles
DE (two at one locus, and a third at a second locus) may be required for
DE clinical manifestation of some forms of the disease.
DR MIM; 209900; phenotype.
DR MedGen; C2936862.
DR MeSH; D020788.
KW KW-0083:Bardet-Biedl syndrome.
KW KW-0550:Obesity.
//
ID Bardet-Biedl syndrome 10.
AC DI-00168
AR BBS10.
DE A syndrome characterized by usually severe pigmentary retinopathy,
DE early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE and intellectual disability. Secondary features include diabetes
DE mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE syndrome inheritance is autosomal recessive, but three mutated alleles
DE (two at one locus, and a third at a second locus) may be required for
DE clinical manifestation of some forms of the disease.
DR MIM; 615987; phenotype.
DR MedGen; C1859568.
DR MeSH; D020788.
KW KW-0083:Bardet-Biedl syndrome.
KW KW-0550:Obesity.
//
ID Bardet-Biedl syndrome 11.
AC DI-00169
AR BBS11.
DE A syndrome characterized by usually severe pigmentary retinopathy,
DE early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE and intellectual disability. Secondary features include diabetes
DE mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE syndrome inheritance is autosomal recessive, but three mutated alleles
DE (two at one locus, and a third at a second locus) may be required for
DE clinical manifestation of some forms of the disease.
DR MIM; 615988; phenotype.
DR MedGen; C1859569.
DR MeSH; D020788.
KW KW-0083:Bardet-Biedl syndrome.
KW KW-0550:Obesity.
//
ID Bardet-Biedl syndrome 12.
AC DI-01269
AR BBS12.
DE A syndrome characterized by usually severe pigmentary retinopathy,
DE early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE and intellectual disability. Secondary features include diabetes
DE mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE syndrome inheritance is autosomal recessive, but three mutated alleles
DE (two at one locus, and a third at a second locus) may be required for
DE clinical manifestation of some forms of the disease.
DR MIM; 615989; phenotype.
DR MedGen; C1859570.
DR MeSH; D020788.
KW KW-0083:Bardet-Biedl syndrome.
KW KW-0550:Obesity.
//
ID Bardet-Biedl syndrome 13.
AC DI-03087
AR BBS13.
DE A syndrome characterized by usually severe pigmentary retinopathy,
DE early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE and intellectual disability. Secondary features include diabetes
DE mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE syndrome inheritance is autosomal recessive, but three mutated alleles
DE (two at one locus, and a third at a second locus) may be required for
DE clinical manifestation of some forms of the disease.
DR MIM; 615990; phenotype.
DR MedGen; C2673873.
DR MeSH; D020788.
KW KW-0083:Bardet-Biedl syndrome.
KW KW-0550:Obesity.
//
ID Bardet-Biedl syndrome 14.
AC DI-02607
AR BBS14.
DE A syndrome characterized by usually severe pigmentary retinopathy,
DE early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE and intellectual disability. Secondary features include diabetes
DE mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE syndrome inheritance is autosomal recessive, but three mutated alleles
DE (two at one locus, and a third at a second locus) may be required for
DE clinical manifestation of some forms of the disease.
DR MIM; 615991; phenotype.
DR MedGen; C2673874.
DR MeSH; D020788.
KW KW-0083:Bardet-Biedl syndrome.
KW KW-0550:Obesity.
//
ID Bardet-Biedl syndrome 15.
AC DI-02938
AR BBS15.
DE A syndrome characterized by usually severe pigmentary retinopathy,
DE early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE and intellectual disability. Secondary features include diabetes
DE mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE syndrome inheritance is autosomal recessive, but three mutated alleles
DE (two at one locus, and a third at a second locus) may be required for
DE clinical manifestation of some forms of the disease.
DR MIM; 615992; phenotype.
DR MedGen; C3150127.
DR MeSH; D020788.
KW KW-0083:Bardet-Biedl syndrome.
KW KW-0550:Obesity.
//
ID Bardet-Biedl syndrome 16.
AC DI-04258
AR BBS16.
DE A syndrome characterized by usually severe pigmentary retinopathy,
DE early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE and intellectual disability. Secondary features include diabetes
DE mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE syndrome inheritance is autosomal recessive, but three mutated alleles
DE (two at one locus, and a third at a second locus) may be required for
DE clinical manifestation of some forms of the disease.
DR MIM; 615993; phenotype.
DR MedGen; CN120370.
DR MeSH; D020788.
KW KW-0083:Bardet-Biedl syndrome.
KW KW-0550:Obesity.
//
ID Bardet-Biedl syndrome 17.
AC DI-04076
AR BBS17.
DE A syndrome characterized by usually severe pigmentary retinopathy,
DE early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE and intellectual disability. Secondary features include diabetes
DE mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE syndrome inheritance is autosomal recessive, but three mutated alleles
DE (two at one locus, and a third at a second locus) may be required for
DE clinical manifestation of some forms of the disease.
DR MIM; 615994; phenotype.
DR MedGen; C3714980.
DR MedGen; CN220306.
DR MeSH; D020788.
KW KW-0083:Bardet-Biedl syndrome.
KW KW-0550:Obesity.
//
ID Bardet-Biedl syndrome 18.
AC DI-04077
AR BBS18.
DE A syndrome characterized by usually severe pigmentary retinopathy,
DE early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE and intellectual disability. Secondary features include diabetes
DE mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE syndrome inheritance is autosomal recessive, but three mutated alleles
DE (two at one locus, and a third at a second locus) may be required for
DE clinical manifestation of some forms of the disease.
DR MIM; 615995; phenotype.
DR MedGen; C3806174.
DR MedGen; CN186038.
DR MedGen; CN220295.
DR MeSH; D020788.
KW KW-0083:Bardet-Biedl syndrome.
KW KW-0550:Obesity.
//
ID Bardet-Biedl syndrome 19.
AC DI-04162
AR BBS19.
DE A syndrome characterized by usually severe pigmentary retinopathy,
DE early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE and intellectual disability. Secondary features include diabetes
DE mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE syndrome inheritance is autosomal recessive, but three mutated alleles
DE (two at one locus, and a third at a second locus) may be required for
DE clinical manifestation of some forms of the disease.
DR MIM; 615996; phenotype.
DR MedGen; CN220296.
DR MeSH; D020788.
KW KW-0083:Bardet-Biedl syndrome.
KW KW-0550:Obesity.
//
ID Bardet-Biedl syndrome 2.
AC DI-00160
AR BBS2.
DE A syndrome characterized by usually severe pigmentary retinopathy,
DE early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE and intellectual disability. Secondary features include diabetes
DE mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE syndrome inheritance is autosomal recessive, but three mutated alleles
DE (two at one locus, and a third at a second locus) may be required for
DE clinical manifestation of some forms of the disease.
DR MIM; 615981; phenotype.
DR MedGen; C2936863.
DR MeSH; D020788.
KW KW-0083:Bardet-Biedl syndrome.
KW KW-0550:Obesity.
//
ID Bardet-Biedl syndrome 20.
AC DI-06190
AR BBS20.
DE A form of Bardet-Biedl syndrome, a syndrome characterized by usually
DE severe pigmentary retinopathy, early-onset obesity, polydactyly,
DE hypogenitalism, renal malformation and intellectual disability.
DE Secondary features include diabetes mellitus, hypertension and
DE congenital heart disease. Bardet-Biedl syndrome inheritance is
DE autosomal recessive, but three mutated alleles (two at one locus, and
DE a third at a second locus) may be required for clinical manifestation
DE of some forms of the disease.
DR MIM; 619471; phenotype.
DR MedGen; C4310707.
DR MeSH; D020788.
KW KW-0083:Bardet-Biedl syndrome.
KW KW-0550:Obesity.
//
ID Bardet-Biedl syndrome 21.
AC DI-04960
AR BBS21.
DE A form of Bardet-Biedl syndrome, a syndrome characterized by usually
DE severe pigmentary retinopathy, early-onset obesity, polydactyly,
DE hypogenitalism, renal malformation and intellectual disability.
DE Secondary features include diabetes mellitus, hypertension and
DE congenital heart disease. Bardet-Biedl syndrome inheritance is
DE autosomal recessive, but three mutated alleles (two at one locus, and
DE a third at a second locus) may be required for clinical manifestation
DE of some forms of the disease.
DR MIM; 617406; phenotype.
DR MedGen; CN241836.
DR MeSH; D020788.
KW KW-0083:Bardet-Biedl syndrome.
KW KW-0550:Obesity.
//
ID Bardet-Biedl syndrome 22.
AC DI-04830
AR BBS22.
DE A form of Bardet-Biedl syndrome, a syndrome characterized by usually
DE severe pigmentary retinopathy, early-onset obesity, polydactyly,
DE hypogenitalism, renal malformation and intellectual disability.
DE Secondary features include diabetes mellitus, hypertension and
DE congenital heart disease. Bardet-Biedl syndrome inheritance is
DE autosomal recessive, but three mutated alleles (two at one locus, and
DE a third at a second locus) may be required for clinical manifestation
DE of some forms of the disease.
DR MIM; 617119; phenotype.
DR MedGen; CN238500.
DR MeSH; D020788.
KW KW-0083:Bardet-Biedl syndrome.
KW KW-0550:Obesity.
//
ID Bardet-Biedl syndrome 3.
AC DI-00161
AR BBS3.
DE A syndrome characterized by usually severe pigmentary retinopathy,
DE early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE and intellectual disability. Secondary features include diabetes
DE mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE syndrome inheritance is autosomal recessive, but three mutated alleles
DE (two at one locus, and a third at a second locus) may be required for
DE clinical manifestation of some forms of the disease.
DR MIM; 600151; phenotype.
DR MedGen; C1859564.
DR MeSH; D020788.
KW KW-0083:Bardet-Biedl syndrome.
KW KW-0550:Obesity.
//
ID Bardet-Biedl syndrome 4.
AC DI-00162
AR BBS4.
DE A syndrome characterized by usually severe pigmentary retinopathy,
DE early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE and intellectual disability. Secondary features include diabetes
DE mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE syndrome inheritance is autosomal recessive, but three mutated alleles
DE (two at one locus, and a third at a second locus) may be required for
DE clinical manifestation of some forms of the disease.
DR MIM; 615982; phenotype.
DR MedGen; C2936864.
DR MeSH; D020788.
KW KW-0083:Bardet-Biedl syndrome.
KW KW-0550:Obesity.
//
ID Bardet-Biedl syndrome 5.
AC DI-00163
AR BBS5.
DE A syndrome characterized by usually severe pigmentary retinopathy,
DE early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE and intellectual disability. Secondary features include diabetes
DE mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE syndrome inheritance is autosomal recessive, but three mutated alleles
DE (two at one locus, and a third at a second locus) may be required for
DE clinical manifestation of some forms of the disease.
DR MIM; 615983; phenotype.
DR MedGen; CN043026.
DR MeSH; D020788.
KW KW-0083:Bardet-Biedl syndrome.
KW KW-0550:Obesity.
//
ID Bardet-Biedl syndrome 6.
AC DI-00164
AR BBS6.
DE A syndrome characterized by usually severe pigmentary retinopathy,
DE early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE and intellectual disability. Secondary features include diabetes
DE mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE syndrome inheritance is autosomal recessive, but three mutated alleles
DE (two at one locus, and a third at a second locus) may be required for
DE clinical manifestation of some forms of the disease.
DR MIM; 605231; phenotype.
DR MedGen; C1858054.
DR MeSH; D020788.
KW KW-0083:Bardet-Biedl syndrome.
KW KW-0550:Obesity.
//
ID Bardet-Biedl syndrome 7.
AC DI-00165
AR BBS7.
DE A syndrome characterized by usually severe pigmentary retinopathy,
DE early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE and intellectual disability. Secondary features include diabetes
DE mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE syndrome inheritance is autosomal recessive, but three mutated alleles
DE (two at one locus, and a third at a second locus) may be required for
DE clinical manifestation of some forms of the disease.
DR MIM; 615984; phenotype.
DR MedGen; C1859565.
DR MeSH; D020788.
KW KW-0083:Bardet-Biedl syndrome.
KW KW-0550:Obesity.
//
ID Bardet-Biedl syndrome 8.
AC DI-00166
AR BBS8.
DE A syndrome characterized by usually severe pigmentary retinopathy,
DE early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE and intellectual disability. Secondary features include diabetes
DE mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE syndrome inheritance is autosomal recessive, but three mutated alleles
DE (two at one locus, and a third at a second locus) may be required for
DE clinical manifestation of some forms of the disease.
DR MIM; 615985; phenotype.
DR MedGen; C1859566.
DR MeSH; D020788.
KW KW-0083:Bardet-Biedl syndrome.
KW KW-0550:Obesity.
//
ID Bardet-Biedl syndrome 9.
AC DI-00167
AR BBS9.
DE A syndrome characterized by usually severe pigmentary retinopathy,
DE early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE and intellectual disability. Secondary features include diabetes
DE mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE syndrome inheritance is autosomal recessive, but three mutated alleles
DE (two at one locus, and a third at a second locus) may be required for
DE clinical manifestation of some forms of the disease.
DR MIM; 615986; phenotype.
DR MedGen; C1859567.
DR MeSH; D020788.
KW KW-0083:Bardet-Biedl syndrome.
KW KW-0550:Obesity.
//
ID Bare lymphocyte syndrome 1.
AC DI-00170
AR BLS1.
DE A HLA class I deficiency. Contrary to bare lymphocyte syndromes type 2
DE and type 3, which are characterized by early-onset severe combined
DE immunodeficiency, class I antigen deficiencies are not accompanied by
DE particular pathologic manifestations during the first years of life.
DE Systemic infections have not been described. Chronic bacterial
DE infections, often beginning in the first decade of life, are
DE restricted to the respiratory tract.
SY BLS I.
SY BLS type I.
SY HLA class I deficiency.
DR MIM; 604571; phenotype.
DR MedGen; C1858266.
DR MeSH; D007153.
//
ID Bare lymphocyte syndrome 2.
AC DI-00171
AR BLS2.
DE A severe combined immunodeficiency disease with early onset. It is
DE characterized by a profound defect in constitutive and interferon-
DE gamma induced MHC II expression, absence of cellular and humoral T-
DE cell response to antigen challenge, hypogammaglobulinemia and impaired
DE antibody production. The consequence include extreme susceptibility to
DE viral, bacterial and fungal infections.
SY Bare lymphocyte syndrome type II.
SY Bare lymphocyte syndrome type II complementation group A.
SY Bare lymphocyte syndrome type II complementation group B.
SY Bare lymphocyte syndrome type II complementation group C.
SY Bare lymphocyte syndrome type II complementation group D.
SY Bare lymphocyte syndrome type II complementation group E.
SY BLS II.
SY BLS type II.
SY Hereditary MHC class II deficiency.
SY HLA class II deficient combined immunodeficiency.
SY Major histocompatibility complex class II deficiency.
SY MHC-II deficiency.
SY SCID HLA class II-negative.
SY Severe combined immunodeficiency HLA class II-negative.
DR MIM; 209920; phenotype.
DR MedGen; C0242583.
DR MedGen; C1859534.
DR MedGen; C1859535.
DR MedGen; C1859536.
DR MedGen; C1859537.
DR MedGen; C1859538.
DR MedGen; C2931418.
DR MeSH; D016511.
KW KW-0705:SCID.
//
ID Barrett esophagus.
AC DI-03276
AR BE.
DE A condition characterized by a metaplastic change in which normal
DE esophageal squamous epithelium is replaced by a columnar and
DE intestinal-type epithelium. Patients with Barrett esophagus have an
DE increased risk of esophageal adenocarcinoma. The main cause of Barrett
DE esophagus is gastroesophageal reflux. The retrograde movement of acid
DE and bile salts from the stomach into the esophagus causes prolonged
DE injury to the esophageal epithelium and induces chronic esophagitis,
DE which in turn is believed to trigger the pathologic changes.
SY Barrett metaplasia.
DR MIM; 614266; phenotype.
DR MedGen; C0004763.
DR MedGen; C0279628.
DR MeSH; D001471.
//
ID Bart-Pumphrey syndrome.
AC DI-00172
AR BAPS.
DE An autosomal dominant disorder characterized by sensorineural hearing
DE loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It
DE shows considerable phenotypic variability.
SY Knuckle pads, leukonychia, and sensorineural deafness.
DR MIM; 149200; phenotype.
DR MedGen; C0266004.
DR MeSH; D006319.
DR MeSH; D007645.
KW KW-0209:Deafness.
KW KW-1007:Palmoplantar keratoderma.
//
ID Barth syndrome.
AC DI-00005
AR BTHS.
DE An X-linked disease characterized by dilated cardiomyopathy with
DE endocardial fibroelastosis, a predominantly proximal skeletal
DE myopathy, growth retardation, neutropenia, and organic aciduria,
DE particularly excess of 3-methylglutaconic acid. Additional features
DE include hypertrophic cardiomyopathy, isolated left ventricular non-
DE compaction, ventricular arrhythmia, motor delay, poor appetite,
DE fatigue and exercise intolerance, hypoglycemia, lactic acidosis,
DE hyperammonemia, and dramatic late catch-up growth after growth delay
DE throughout childhood.
SY 3-alpha-methylglutaconic aciduria type 2.
SY 3-methylglutaconic aciduria type 2.
SY 3-methylglutaconic aciduria type II.
SY AGM2.
SY Cardioskeletal myopathy-neutropenia.
SY Cardioskeletal myopathy with neutropenia and abnormal mitochondria.
SY INVM.
SY Left ventricular non-compaction isolated X-linked.
SY MGA2.
SY MGA type II.
SY MGCA2.
SY Non-compaction of left ventricular myocardium isolated X-linked.
DR MIM; 302060; phenotype.
DR MedGen; C0574083.
DR MeSH; D056889.
KW KW-0122:Cardiomyopathy.
//
ID Bartsocas-Papas syndrome.
AC DI-03375
AR BPS.
DE An autosomal recessive disorder characterized by multiple popliteal
DE pterygia leading to severe arthrogryposis, ankyloblepharon filiforme
DE adnatum, filiform bands between the jaws, synostosis of the
DE carpal/tarsal and phalangeal bones in the hands and feet, digital
DE hypoplasia/aplasia, complete soft-tissue syndactyly, lack of nails,
DE lack of scalp hair, eyebrows and eyelashes, blepharophimosis, cleft
DE lip and/or palate, and hypoplastic external genitalia. Early lethality
DE is common, although survival into childhood and beyond has been
DE reported.
SY Multiple pterygium syndrome, Aslan type.
SY Popliteal pterygium syndrome, lethal type.
DR MIM; 263650; phenotype.
DR MedGen; C1849718.
DR MeSH; D011625.
//
ID Bartsocas-Papas syndrome 2.
AC DI-06116
AR BPS2.
DE An autosomal recessive, severe form of popliteal pterygium syndrome.
DE Popliteal pterygia syndromes have considerable variability in severity
DE and in the associated phenotypic features but they are all
DE characterized by cutaneous webbing across one or more major joints,
DE cleft lip and/or palate, syndactyly, and genital malformations.
SY Popliteal pterygium syndrome, Bartsocas-Papas type 2.
DR MIM; 619339; phenotype.
DR MedGen; CN296811.
DR MeSH; D000015.
//
ID Bartter syndrome 1, antenatal.
AC DI-00173
AR BARTS1.
DE A form of Bartter syndrome, an autosomal recessive disorder
DE characterized by impaired salt reabsorption in the thick ascending
DE loop of Henle with pronounced salt wasting, hypokalemic metabolic
DE alkalosis, and varying degrees of hypercalciuria. BARTS1 is a life-
DE threatening condition beginning in utero, with marked fetal polyuria
DE that leads to polyhydramnios and premature delivery. Another hallmark
DE is a marked hypercalciuria and, as a secondary consequence, the
DE development of nephrocalcinosis and osteopenia.
SY aBS1.
SY Antenatal Bartter syndrome 1.
SY BS1.
SY Hyperprostaglandin E syndrome 1.
SY Hypokalemic alkalosis with hypercalciuria antenatal 1.
DR MIM; 601678; phenotype.
DR MedGen; C1866495.
DR MeSH; D001477.
KW KW-0910:Bartter syndrome.
//
ID Bartter syndrome 2, antenatal.
AC DI-00174
AR BARTS2.
DE A form of Bartter syndrome, an autosomal recessive disorder
DE characterized by impaired salt reabsorption in the thick ascending
DE loop of Henle with pronounced salt wasting, hypokalemic metabolic
DE alkalosis, and varying degrees of hypercalciuria. BARTS2 is a life-
DE threatening condition beginning in utero, with marked fetal polyuria
DE that leads to polyhydramnios and premature delivery. Another hallmark
DE is a marked hypercalciuria and, as a secondary consequence, the
DE development of nephrocalcinosis and osteopenia.
SY aBS2.
SY Antenatal Bartter syndrome 2.
SY Bartter syndrome 2.
SY BS2.
SY Hyperprostanglandin E syndrome 2.
SY Hypokalemic alkalosis with hypercalciuria antenatal 2.
DR MIM; 241200; phenotype.
DR MedGen; C1855849.
DR MeSH; D001477.
KW KW-0910:Bartter syndrome.
//
ID Bartter syndrome 3.
AC DI-00175
AR BARTS3.
DE A form of Bartter syndrome, an autosomal recessive disorder
DE characterized by impaired salt reabsorption in the thick ascending
DE loop of Henle with pronounced salt wasting, hypokalemic metabolic
DE alkalosis, and varying degrees of hypercalciuria.
SY Classic Bartter syndrome.
DR MIM; 607364; phenotype.
DR MedGen; C1846343.
DR MedGen; C1846344.
DR MeSH; D001477.
KW KW-0910:Bartter syndrome.
//
ID Bartter syndrome 4A, neonatal, with sensorineural deafness.
AC DI-00176
AR BARTS4A.
DE A form of Bartter syndrome, an autosomal recessive disorder
DE characterized by impaired salt reabsorption in the thick ascending
DE loop of Henle with pronounced salt wasting, hypokalemic metabolic
DE alkalosis, and varying degrees of hypercalciuria. BARTS4A is
DE associated with sensorineural deafness.
SY Bartter syndrome, neonatal, with sensorineural deafness.
SY BSND.
SY Hyperprostanglandin E syndrome 4.
SY Hypokalemic alkalosis with hypercalciuria antenatal 4.
SY Infantile Bartter syndrome with sensorineural deafness.
SY Sensorineural deafness with mild renal dysfunction.
DR MIM; 602522; phenotype.
DR MedGen; C1865270.
DR MedGen; C2748440.
DR MeSH; D001477.
KW KW-0209:Deafness.
KW KW-0910:Bartter syndrome.
//
ID Bartter syndrome 4B, neonatal, with sensorineural deafness.
AC DI-02554
AR BARTS4B.
DE A digenic form of Bartter syndrome, an autosomal recessive disorder
DE characterized by impaired salt reabsorption in the thick ascending
DE loop of Henle with pronounced salt wasting, hypokalemic metabolic
DE alkalosis, and varying degrees of hypercalciuria. BARTS4B is
DE associated with sensorineural deafness.
SY Bartter syndrome 4B.
SY BSND.
SY Infantile Bartter syndrome with sensorineural deafness.
DR MIM; 613090; phenotype.
DR MedGen; C2751312.
DR MeSH; D001477.
KW KW-0209:Deafness.
KW KW-0910:Bartter syndrome.
//
ID Bartter syndrome 5, antenatal, transient.
AC DI-04715
AR BARTS5.
DE An X-linked recessive form of Bartter syndrome, a disorder
DE characterized by impaired salt reabsorption in the thick ascending
DE loop of Henle with pronounced salt wasting, hypokalemic metabolic
DE alkalosis, and varying degrees of hypercalciuria. BARTS5 is an
DE antenatal form beginning in utero with marked fetal polyuria that
DE leads to polyhydramnios and premature delivery. It is characterized by
DE severe but transient symptoms that can resolve with age.
SY Bartter syndrome, type 5, antenatal, transient.
DR MIM; 300971; phenotype.
DR MedGen; CN236697.
DR MeSH; D001477.
KW KW-0910:Bartter syndrome.
//
ID Basal cell carcinoma.
AC DI-02338
AR BCC.
DE A common malignant skin neoplasm that typically appears on hair-
DE bearing skin, most commonly on sun-exposed areas. BCC is slow growing
DE and rarely metastasizes, but has potentialities for local invasion and
DE destruction. It usually develops as a flat, firm, pale area that is
DE small, raised, pink or red, translucent, shiny, and waxy, and the area
DE may bleed following minor injury. Tumor size can vary from a few
DE millimeters to several centimeters in diameter.
SY Multiple basal cell carcinoma.
SY Non-syndromic basal cell carcinoma.
DR MIM; 605462; phenotype.
DR MedGen; C1854245.
DR MedGen; C2751544.
DR MedGen; C2751545.
DR MeSH; D002280.
//
ID Basal cell carcinoma 7.
AC DI-03503
AR BCC7.
DE A common malignant skin neoplasm that typically appears on hair-
DE bearing skin, most commonly on sun-exposed areas. It is slow growing
DE and rarely metastasizes, but has potentialities for local invasion and
DE destruction. It usually develops as a flat, firm, pale area that is
DE small, raised, pink or red, translucent, shiny, and waxy, and the area
DE may bleed following minor injury. Tumor size can vary from a few
DE millimeters to several centimeters in diameter.
DR MIM; 614740; phenotype.
DR MedGen; C3553606.
DR MedGen; CN130586.
DR MeSH; D002280.
//
ID Basal cell nevus syndrome.
AC DI-00177
AR BCNS.
DE An autosomal dominant disease characterized by nevoid basal cell
DE carcinomas and developmental abnormalities such as rib and
DE craniofacial alterations, polydactyly, syndactyly, and spina bifida.
DE In addition, the patients suffer from a multitude of tumors like basal
DE cell carcinomas, fibromas of the ovaries and heart, cysts of the skin,
DE jaws and mesentery, as well as medulloblastomas and meningiomas.
SY Gorlin syndrome or Gorlin-Goltz syndrome.
DR MIM; 109400; phenotype.
DR MedGen; C0004779.
DR MeSH; D001478.
//
ID Basal ganglia calcification, idiopathic, 1.
AC DI-03407
AR IBGC1.
DE A form of basal ganglia calcification, an autosomal dominant condition
DE characterized by symmetric calcification in the basal ganglia and
DE other brain regions. Affected individuals can either be asymptomatic
DE or show a wide spectrum of neuropsychiatric symptoms, including
DE parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures,
DE and chronic headache. Serum levels of calcium, phosphate, alkaline
DE phosphatase and parathyroid hormone are normal. The neuropathological
DE hallmark of the disease is vascular and pericapillary calcification,
DE mainly of calcium phosphate, in the affected brain areas.
SY Autosomal dominant adult-onset striopallidodentate calcinosis.
SY Bilateral striopallidodentate calcinosis.
SY BSPDC.
SY Cerebrovascular ferrocalcinosis.
SY Familial Fahr disease.
SY IBGC2.
SY IBGC3.
SY Idiopathic basal ganglia calcification 2.
SY Idiopathic basal ganglia calcification 3.
SY Non-arteriosclerotic, idiopathic, adult-onset cerebral calcification.
SY PFBC.
SY Primary familial brain calcification.
DR MIM; 213600; phenotype.
DR MedGen; C0393590.
DR MedGen; C3281142.
DR MeSH; D001480.
DR MeSH; D002114.
//
ID Basal ganglia calcification, idiopathic, 4.
AC DI-03665
AR IBGC4.
DE A form of basal ganglia calcification, an autosomal dominant condition
DE characterized by symmetric calcification in the basal ganglia and
DE other brain regions. Affected individuals can either be asymptomatic
DE or show a wide spectrum of neuropsychiatric symptoms, including
DE parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures,
DE and chronic headache. Serum levels of calcium, phosphate, alkaline
DE phosphatase and parathyroid hormone are normal. The neuropathological
DE hallmark of the disease is vascular and pericapillary calcification,
DE mainly of calcium phosphate, in the affected brain areas.
DR MIM; 615007; phenotype.
DR MedGen; C3554321.
DR MedGen; CN164260.
DR MeSH; D001480.
DR MeSH; D002114.
//
ID Basal ganglia calcification, idiopathic, 5.
AC DI-03923
AR IBGC5.
DE A form of basal ganglia calcification, an autosomal dominant condition
DE characterized by symmetric calcification in the basal ganglia and
DE other brain regions. Affected individuals can either be asymptomatic
DE or show a wide spectrum of neuropsychiatric symptoms, including
DE parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures,
DE and chronic headache. Serum levels of calcium, phosphate, alkaline
DE phosphatase and parathyroid hormone are normal. The neuropathological
DE hallmark of the disease is vascular and pericapillary calcification,
DE mainly of calcium phosphate, in the affected brain areas.
DR MIM; 615483; phenotype.
DR MedGen; C3809645.
DR MedGen; CN185289.
DR MeSH; D001480.
DR MeSH; D002114.
//
ID Basal ganglia calcification, idiopathic, 6.
AC DI-04453
AR IBGC6.
DE A form of basal ganglia calcification, an autosomal dominant condition
DE characterized by symmetric calcification in the basal ganglia and
DE other brain regions. Affected individuals can either be asymptomatic
DE or show a wide spectrum of neuropsychiatric symptoms, including
DE parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures,
DE and chronic headache. Serum levels of calcium, phosphate, alkaline
DE phosphatase and parathyroid hormone are normal. The neuropathological
DE hallmark of the disease is vascular and pericapillary calcification,
DE mainly of calcium phosphate, in the affected brain areas.
DR MIM; 616413; phenotype.
DR MedGen; CN231252.
DR MeSH; D001480.
DR MeSH; D002114.
//
ID Basal ganglia calcification, idiopathic, 7, autosomal recessive.
AC DI-05477
AR IBGC7.
DE A form of basal ganglia calcification, a genetically heterogeneous
DE condition characterized by symmetric calcification in the basal
DE ganglia and other brain regions. Affected individuals can either be
DE asymptomatic or show a wide spectrum of neuropsychiatric symptoms,
DE including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis,
DE seizures, and chronic headache. Serum levels of calcium, phosphate,
DE alkaline phosphatase and parathyroid hormone are normal. The
DE neuropathological hallmark of the disease is vascular and
DE pericapillary calcification, mainly of calcium phosphate, in the
DE affected brain areas.
DR MIM; 618317; phenotype.
DR MedGen; CN258198.
DR MeSH; D001480.
DR MeSH; D002114.
//
ID Basal ganglia calcification, idiopathic, 8, autosomal recessive.
AC DI-05778
AR IBGC8.
DE A form of basal ganglia calcification, a genetically heterogeneous
DE condition characterized by symmetric calcification in the basal
DE ganglia and other brain regions. Affected individuals can either be
DE asymptomatic or show a wide spectrum of neuropsychiatric symptoms,
DE including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis,
DE seizures, and chronic headache. Serum levels of calcium, phosphate,
DE alkaline phosphatase and parathyroid hormone are normal. The
DE neuropathological hallmark of the disease is vascular and
DE pericapillary calcification, mainly of calcium phosphate, in the
DE affected brain areas.
DR MIM; 618824; phenotype.
DR MedGen; CN263397.
DR MeSH; D001480.
DR MeSH; D002114.
//
ID Basal laminar drusen.
AC DI-02606
AR BLD.
DE Drusen are extracellular deposits that accumulate below the retinal
DE pigment epithelium on Bruch membrane. Basal laminar drusen refers to
DE an early adult-onset drusen phenotype that shows a pattern of uniform
DE small, slightly raised yellow subretinal nodules randomly scattered in
DE the macula. In later stages, these drusen often become more numerous,
DE with clustered groups of drusen scattered throughout the retina. In
DE time these small basal laminar drusen may expand and ultimately lead
DE to a serous pigment epithelial detachment of the macula that may
DE result in vision loss.
SY Drusen cuticular.
SY Drusen early adult-onset grouped.
SY Drusen of Bruch membrane.
DR MIM; 126700; phenotype.
DR MedGen; C0730295.
DR MeSH; D015593.
//
ID Basan syndrome.
AC DI-04977
AR BSNS.
DE An autosomal dominant form of adermatoglyphia associated with
DE congenital facial milia, acral blistering, digital contractures, and
DE nail abnormalities. Adermatoglyphia is defined by the lack of
DE epidermal ridges on the palms and soles, which results in the absence
DE of fingerprints.
SY Adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities.
SY Ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and simian crease.
DR MIM; 129200; phenotype.
DR MedGen; C0406707.
DR MeSH; D004476.
DR MeSH; D012868.
KW KW-0038:Ectodermal dysplasia.
//
ID Basel-Vanagaite-Smirin-Yosef syndrome.
AC DI-04474
AR BVSYS.
DE An autosomal recessive syndrome characterized by eye, brain, cardiac
DE and palatal abnormalities as well as growth retardation, microcephaly
DE and severe intellectual disability.
DR MIM; 616449; phenotype.
DR MedGen; CN231442.
DR MeSH; D000015.
KW KW-0991:Intellectual disability.
//
ID Basilicata-Akhtar syndrome.
AC DI-05649
AR MRXSBA.
DE An X-linked syndrome characterized by intellectual disability, global
DE developmental delay, progressive gait disturbance, poor or absent
DE speech, facial dysmorphism, and mild distal skeletal anomalies.
SY MRXS36.
DR MIM; 301032; phenotype.
DR MedGen; CN262328.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Beare-Stevenson cutis gyrata syndrome.
AC DI-01270
AR BSTVS.
DE An autosomal dominant disease characterized by craniofacial anomalies,
DE particularly craniosynostosis, and ear defects, cutis gyrata,
DE acanthosis nigricans, anogenital anomalies, skin tags, and prominent
DE umbilical stump. The skin furrows have a corrugated appearance and are
DE widespread. Cutis gyrata variably affects the scalp, forehead, face,
DE preauricular area, neck, trunk, hands, and feet.
SY Beare-Stevenson syndrome.
SY Cutis gyrata syndrome of Beare and Stevenson.
DR MIM; 123790; phenotype.
DR MedGen; C1852406.
DR MeSH; D000052.
DR MeSH; D003398.
DR MeSH; D012868.
KW KW-0989:Craniosynostosis.
//
ID Beaulieu-Boycott-Innes syndrome.
AC DI-03901
AR BBIS.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE delayed development, moderate intellectual disability, and dysmorphic
DE facial features. Other developmental anomalies, such as cardiac and
DE renal defects, may also occur.
DR MIM; 613680; phenotype.
DR MedGen; C3150939.
DR MeSH; D000015.
//
ID Beck-Fahrner syndrome.
AC DI-05782
AR BEFAHRS.
DE A developmental disorder characterized by mild to severe intellectual
DE disability, global developmental delay, hypotonia, autistic traits,
DE movement disorders, growth abnormalities including overgrowth or poor
DE growth, and facial dysmorphism. Both autosomal dominant and autosomal
DE recessive inheritance has been reported.
DR MIM; 618798; phenotype.
DR MedGen; CN263349.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Becker muscular dystrophy.
AC DI-00178
AR BMD.
DE A neuromuscular disorder characterized by dystrophin deficiency. It
DE appears between the age of 5 and 15 years with a proximal motor
DE deficiency of variable progression. Heart involvement can be the
DE initial sign. Becker muscular dystrophy has a more benign course than
DE Duchenne muscular dystrophy.
DR MIM; 300376; phenotype.
DR MedGen; C0917713.
DR MeSH; D020388.
//
ID Beckwith-Wiedemann syndrome.
AC DI-00179
AR BWS.
DE A disorder characterized by anterior abdominal wall defects including
DE exomphalos (omphalocele), pre- and postnatal overgrowth, and
DE macroglossia. Additional less frequent complications include specific
DE developmental defects and a predisposition to embryonal tumors.
SY EMG syndrome.
SY Exomphalos-macroglossia-gigantism syndrome.
DR MIM; 130650; phenotype.
DR MedGen; C0004903.
DR MeSH; D001506.
//
ID Behr syndrome.
AC DI-04690
AR BEHRS.
DE An autosomal recessive syndrome characterized by optic atrophy
DE beginning in early childhood associated with ataxia, pyramidal signs,
DE spasticity, intellectual disability, and posterior column sensory
DE loss. The ataxia, spasticity, and muscle contractures, mainly of the
DE hip adductors, hamstrings, and soleus, are progressive and become more
DE prominent in the second decade.
SY Infantile hereditary optic atrophy with neurologic abnormalities.
SY Optic atrophy, infantile hereditary, with neurologic abnormalities.
DR MIM; 210000; phenotype.
DR MedGen; C0221061.
DR MeSH; D001259.
DR MeSH; D008607.
DR MeSH; D009896.
DR MeSH; D013035.
KW KW-0523:Neurodegeneration.
//
ID Benign essential blepharospasm.
AC DI-00180
AR BEB.
DE A primary focal dystonia affecting the orbicularis oculi muscles.
DE Dystonia is defined by the presence of sustained involuntary muscle
DE contraction, often leading to abnormal postures. BEB usually begins in
DE middle age. Initial symptoms include eye irritation and frequent
DE blinking, progressing to involuntary spasms of eyelid closure.
DE Patients have normal eyes. The visual disturbance is due solely to the
DE forced closure of the eyelids. In severe cases, this can lead to
DE functional blindness.
DR MIM; 606798; phenotype.
DR MedGen; C0005747.
DR MedGen; C2930898.
DR MeSH; D001764.
KW KW-1023:Dystonia.
//
ID Bent bone dysplasia syndrome.
AC DI-03429
AR BBDS.
DE A perinatal lethal skeletal dysplasia characterized by poor
DE mineralization of the calvarium, craniosynostosis, dysmorphic facial
DE features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia,
DE and bent long bones. Dysmorphic facial features included low-set ears,
DE hypertelorism, midface hypoplasia, prematurely erupted fetal teeth,
DE and micrognathia.
DR MIM; 614592; phenotype.
DR MedGen; C3281247.
DR MeSH; D001848.
//
ID Bernard-Soulier syndrome.
AC DI-01274
AR BSS.
DE A coagulation disorder characterized by a prolonged bleeding time,
DE unusually large platelets, thrombocytopenia, and impaired prothrombin
DE consumption.
SY BDPLT1.
SY Bernard-Soulier syndrome type A1.
SY Bernard-Soulier syndrome type B.
SY Bernard-Soulier syndrome type C.
SY Bleeding disorder platelet-type 1.
SY Giant platelet disease.
SY GPD.
SY Platelet glycoprotein Ib deficiency.
SY Von Willebrand factor receptor deficiency.
DR MIM; 231200; phenotype.
DR MedGen; C0005129.
DR MedGen; C1856447.
DR MedGen; C1856448.
DR MedGen; C2713537.
DR MedGen; C3278148.
DR MeSH; D001606.
//
ID Bernard-Soulier syndrome A2, autosomal dominant.
AC DI-01273
AR BSSA2.
DE A coagulation disorder characterized by mild to moderate bleeding
DE tendency, thrombocytopenia, and an increased mean platelet volume.
DE Some individuals have no symptoms. Mild bleeding tendencies manifest
DE as epistaxis, gingival bleeding, menorrhagia, easy bruising, or
DE prolonged bleeding after dental surgery.
SY Autosomal dominant benign Bernard-Soulier syndrome.
SY Benign mediterranean macrothrombocytopenia.
DR MIM; 153670; phenotype.
DR MedGen; C2750610.
DR MedGen; C3277076.
DR MeSH; D001606.
//
ID Bestrophinopathy, autosomal recessive.
AC DI-00187
AR ARB.
DE A retinopathy characterized by loss of central vision, an absent
DE electro-oculogram light rise, and electroretinogram anomalies.
SY Bestrophinopathy.
SY Retinopathy Burgess-Black type.
DR MIM; 611809; phenotype.
DR MedGen; C2678493.
DR MeSH; D012164.
//
ID Beta-thalassemia.
AC DI-01275
AR B-THAL.
DE A form of thalassemia. Thalassemias are common monogenic diseases
DE occurring mostly in Mediterranean and Southeast Asian populations. The
DE hallmark of beta-thalassemia is an imbalance in globin-chain
DE production in the adult HbA molecule. Absence of beta chain causes
DE beta(0)-thalassemia, while reduced amounts of detectable beta globin
DE causes beta(+)-thalassemia. In the severe forms of beta-thalassemia,
DE the excess alpha globin chains accumulate in the developing erythroid
DE precursors in the marrow. Their deposition leads to a vast increase in
DE erythroid apoptosis that in turn causes ineffective erythropoiesis and
DE severe microcytic hypochromic anemia. Clinically, beta-thalassemia is
DE divided into thalassemia major which is transfusion dependent,
DE thalassemia intermedia (of intermediate severity), and thalassemia
DE minor that is asymptomatic.
SY Beta thalassemia.
SY Cooley's anemia.
SY Erythroblastic anemia.
SY Mediterranean anemia.
SY Thalassemia major.
SY Thalassemia minor.
DR MIM; 613985; phenotype.
DR MedGen; C0005283.
DR MedGen; C0472767.
DR MedGen; C0599528.
DR MedGen; C0869532.
DR MeSH; D017086.
KW KW-0360:Hereditary hemolytic anemia.
//
ID Beta-thalassemia, dominant, inclusion body type.
AC DI-01498
AR B-THALIB.
DE An autosomal dominant form of beta thalassemia characterized by
DE moderate anemia, lifelong jaundice, cholelithiasis and splenomegaly,
DE marked morphologic changes in the red cells, erythroid hyperplasia of
DE the bone marrow with increased numbers of multinucleate red cell
DE precursors, and the presence of large inclusion bodies in the
DE normoblasts, both in the marrow and in the peripheral blood after
DE splenectomy.
SY Beta thalassemia dominant inclusion body type.
SY Dyserythropoietic anemia congenital Irish or Weatherall type.
DR MIM; 603902; phenotype.
DR MedGen; C1858990.
DR MeSH; D000742.
DR MeSH; D017086.
KW KW-1055:Congenital dyserythropoietic anemia.
//
ID Beta-ureidopropionase deficiency.
AC DI-01276
AR UPB1D.
DE An inborn error of metabolism due to a defect in pyrimidine
DE degradation. It is characterized by muscular hypotonia, dystonic
DE movements, scoliosis, microcephaly and severe developmental delay.
DE Patients show strongly elevated levels of N-carbamyl-beta-alanine and
DE N-carbamyl-beta-aminoisobutyric acid in plasma, cerebrospinal fluid
DE and urine.
DR MIM; 613161; phenotype.
DR MedGen; C1291512.
DR MeSH; D011686.
//
ID Bethlem myopathy 1.
AC DI-00188
AR BTHLM1.
DE A benign proximal myopathy characterized by early childhood onset and
DE joint contractures most frequently affecting the elbows and ankles.
SY Bethlem myopathy.
SY LGMDD5.
SY Muscular dystrophy, benign congenital.
SY Muscular dystrophy, limb-girdle, autosomal dominant 5.
SY Myopathy, benign congenital, with contractures.
DR MIM; 158810; phenotype.
DR MedGen; C1834674.
DR MeSH; D009136.
KW KW-0947:Limb-girdle muscular dystrophy.
//
ID Bethlem myopathy 2.
AC DI-04487
AR BTHLM2.
DE A form of Bethlem myopathy, a benign proximal myopathy characterized
DE by early childhood onset and joint contractures most frequently
DE affecting the elbows and ankles. BTHLM2 inheritance is autosomal
DE dominant.
SY EDS, myopathic.
SY EDSMYP.
SY Ehlers-Danlos syndrome, myopathic.
DR MIM; 616471; phenotype.
DR MedGen; CN231483.
DR MeSH; D009136.
//
ID Beukes familial hip dysplasia.
AC DI-04544
AR BFHD.
DE A severe progressive degenerative osteoarthritis of the hip joint with
DE underlying dysplasia confined to that region. Affected individuals are
DE of normal stature and have no associated health problems.
SY Beukes hip dysplasia.
SY Hip dysplasia, Beukes type.
SY Premature degenerative osteoarthropathy.
DR MIM; 142669; phenotype.
DR MedGen; C1840572.
DR MeSH; D006618.
DR MeSH; D010009.
//
ID Bietti crystalline corneoretinal dystrophy.
AC DI-01280
AR BCD.
DE An autosomal recessive ocular disease characterized by retinal
DE degeneration and marginal corneal dystrophy. Typical features include
DE multiple glistening intraretinal crystals scattered over the fundus, a
DE characteristic degeneration of the retina, and sclerosis of the
DE choroidal vessels, ultimately resulting in progressive night blindness
DE and constriction of the visual field. Most patients have similar
DE crystals at the corneoscleral limbus. Patients develop decreased
DE vision, nyctalopia, and paracentral scotomata between the 2nd and 4th
DE decade of life. Later, they develop peripheral visual field loss and
DE marked visual impairment, usually progressing to legal blindness by
DE the 5th or 6th decade of life.
SY Bietti crystalline dystrophy.
SY Bietti tapetoretinal degeneration with marginal corneal dystrophy.
SY Crystalline retinopathy.
DR MIM; 210370; phenotype.
DR MedGen; C1859486.
DR MeSH; D003317.
DR MeSH; D012164.
KW KW-1212:Corneal dystrophy.
//
ID Bifid nose, with or without anorectal and renal anomalies.
AC DI-02627
AR BNAR.
DE A disease characterized by the presence of a bifid nose usually
DE associated with renal agenesis and anorectal malformations. A bifid
DE nose is a congenital deformity due to failure of the paired nasal
DE processes to fuse to a single midline organ during early gestation.
SY Bifid nose renal agenesis and anorectal malformations syndrome.
DR MIM; 608980; phenotype.
DR MedGen; C2750433.
DR MeSH; D000013.
DR MeSH; D009668.
//
ID Bilateral optic nerve hypoplasia.
AC DI-01282
AR BONH.
DE A congenital anomaly in which the optic disk appears abnormally small.
DE It may be an isolated finding or part of a spectrum of anatomic and
DE functional abnormalities that includes partial or complete agenesis of
DE the septum pellucidum, other midline brain defects, cerebral
DE anomalies, pituitary dysfunction, and structural abnormalities of the
DE pituitary.
SY Bilateral optic nerve aplasia.
DR MIM; 165550; phenotype.
DR MedGen; C1833797.
DR MedGen; C1833798.
DR MeSH; D000013.
//
ID Bile acid conjugation defect 1.
AC DI-06059
AR BACD1.
DE An autosomal recessive metabolic disorder characterized by reduced
DE biliary secretion of conjugated bile acids, fat malabsorption, and
DE fat-soluble vitamin deficiency. Clinical manifestations include
DE rickets with variable growth failure due to vitamin D deficiency, and
DE coagulopathy due to deficiency of vitamin K-dependent clotting
DE factors. Additional variable features include pruritis, anemia,
DE hepatomegaly, and bile duct proliferation on liver biopsy. Laboratory
DE studies show abnormally increased levels of unconjugated bile acids.
DR MIM; 619232; phenotype.
DR MedGen; CN296017.
DR MeSH; D008661.
//
ID Bile acid malabsorption, primary, 2.
AC DI-06199
AR PBAM2.
DE An autosomal recessive disorder characterized by chronic diarrhea,
DE severe fat-soluble vitamin deficiency, and features of cholestatic
DE liver disease.
DR MIM; 619481; phenotype.
DR MedGen; CN300335.
DR MeSH; D008286.
//
ID Biliary, renal, neurologic, and skeletal syndrome.
AC DI-06257
AR BRENS.
DE An autosomal recessive ciliopathy with multisystemic manifestations
DE including severe neonatal cholestasis that progresses to liver
DE fibrosis and cirrhosis, postaxial polydactyly, hydrocephalus, retinal
DE abnormalities, and situs inversus. Additional features may include
DE congenital cardiac defects, echogenic kidneys with renal failure,
DE ocular abnormalities, joint hyperextensibility, and dysmorphic facial
DE features. Some patients have global developmental delay. Brain imaging
DE typically shows dilated ventricles, hypomyelination, and white matter
DE abnormalities, although some patients have been described with
DE abnormal pituitary development.
SY BRENS syndrome.
DR MIM; 619534; phenotype.
DR MedGen; CN300605.
DR MeSH; D000072661.
KW KW-1186:Ciliopathy.
//
ID Biotinidase deficiency.
AC DI-00189
AR BTD deficiency.
DE A juvenile form of multiple carboxylase deficiency, an autosomal
DE recessive disorder of biotin metabolism, characterized by
DE ketoacidosis, hyperammonemia, excretion of abnormal organic acid
DE metabolites, and dermatitis. Biotinidase deficiency is characterized
DE by seizures, hypotonia, skin rash, alopecia, ataxia, hearing loss, and
DE optic atrophy. If untreated, symptoms usually become progressively
DE worse, and coma and death may occur.
SY Late-onset MCD.
SY Late-onset multiple carboxylase deficiency.
SY MCD juvenile form.
SY Multiple carboxylase deficiency, juvenile-onset.
SY Multiple carboxylase deficiency, late-onset.
DR MIM; 253260; phenotype.
DR MedGen; C0220754.
DR MedGen; C1854698.
DR MeSH; D028921.
//
ID Birbeck granule deficiency.
AC DI-02857
AR BIRGD.
DE A condition characterized by the absence of Birbeck granules in
DE epidermal Langerhans cells. Despite the lack of Birbeck granules,
DE Langerhans cells are present in normal numbers and have normal
DE morphologic characteristics and antigen-presenting capacity.
SY Absence of Birbeck granules.
DR MIM; 613393; phenotype.
DR MedGen; C3150657.
//
ID Birk-Barel syndrome.
AC DI-02513
AR BIBARS.
DE A syndrome characterized by intellectual disability, hypotonia,
DE hyperactivity, and facial dysmorphism. BIBARS transmission pattern is
DE consistent with autosomal dominant inheritance with paternal
DE imprinting.
DR MIM; 612292; phenotype.
DR MedGen; C2676770.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Birk-Landau-Perez syndrome.
AC DI-05046
AR BILAPES.
DE An autosomal recessive syndrome characterized by early-childhood onset
DE of different combinations of intellectual disability, muscle weakness,
DE camptocormia, oculomotor apraxia, and nephropathy.
DR MIM; 617595; phenotype.
DR MedGen; CN353477.
DR MeSH; D000015.
//
ID Birt-Hogg-Dube syndrome.
AC DI-00190
AR BHD.
DE A rare autosomal dominant genodermatosis characterized by hair
DE follicle hamartomas (fibrofolliculomas), kidney tumors, and
DE spontaneous pneumothorax. Fibrofolliculomas are part of the triad of
DE Birt-Hogg-Dube syndrome skin lesions that also includes trichodiscomas
DE and acrochordons. Onset of this dermatologic condition is invariably
DE in adulthood. Birt-Hogg-Dube syndrome is associated with a variety of
DE histologic types of renal tumors, including chromophobe renal cell
DE carcinoma (RCC), benign renal oncocytoma, clear-cell RCC and papillary
DE type I RCC. Multiple lipomas, angiolipomas, and parathyroid adenomas
DE are also seen in Birt-Hogg-Dube syndrome patients.
SY Fibrofolliculomas with trichodiscomas and acrochordons.
DR MIM; 135150; phenotype.
DR MedGen; C0346010.
DR MeSH; D058249.
//
ID Bjoernstad syndrome.
AC DI-01285
AR BJS.
DE An autosomal recessive disease characterized by congenital
DE sensorineural hearing loss and twisted hairs (pili torti). Pili torti
DE is a condition in which the hair shafts are flattened at irregular
DE intervals and twisted 180 degrees from the normal axis, making the
DE hair extremely brittle.
SY Bjornstad syndrome.
SY Pili torti and nerve deafness.
SY PTD.
DR MIM; 262000; phenotype.
DR MedGen; C0266006.
DR MeSH; D006201.
DR MeSH; D006319.
KW KW-0209:Deafness.
//
ID Bladder cancer.
AC DI-02612
AR BLC.
DE A malignancy originating in tissues of the urinary bladder. It often
DE presents with multiple tumors appearing at different times and at
DE different sites in the bladder. Most bladder cancers are transitional
DE cell carcinomas that begin in cells that normally make up the inner
DE lining of the bladder. Other types of bladder cancer include squamous
DE cell carcinoma (cancer that begins in thin, flat cells) and
DE adenocarcinoma (cancer that begins in cells that make and release
DE mucus and other fluids). Bladder cancer is a complex disorder with
DE both genetic and environmental influences.
SY Urinary bladder cancer.
SY Urothelial carcinoma of the bladder.
DR MIM; 109800; phenotype.
DR MedGen; C0005684.
DR MeSH; D001749.
//
ID Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT.
AC DI-05743
AR BAIPRCK.
DE An autosomal recessive disease characterized by impaired innervation
DE and autonomic dysfunction of the urinary bladder, hydronephrosis,
DE vesicoureteral reflux, small kidneys, recurrent urinary tract
DE infections, and progressive renal insufficiency. Additional autonomic
DE features are impaired pupillary reflex and orthostatic hypotension.
DE The disease manifests in utero or early childhood.
SY Atony of urinary bladder.
DR MIM; 191800; phenotype.
DR MedGen; C0403645.
DR MeSH; D001750.
//
ID Blau syndrome.
AC DI-01286
AR BLAUS.
DE An autosomal dominant inflammatory disorder characterized by the
DE formation of immune granulomas invading the skin, joints and eye.
DE Other organs may be involved. Clinical manifestations are variable and
DE include early-onset granulomatous arthritis, uveitis and skin rash.
DE Blindness, joint destruction and visceral involvement have been
DE reported in severe cases.
SY ACUG.
SY Arthrocutaneouveal granulomatosis.
SY EOS.
SY Familial granulomatosis blau type.
SY Familial granulomatous inflammatory arthritis dermatitis and uveitis.
SY Familial juvenile systemic granulomatosis.
SY Jabs syndrome.
SY Sarcoidosis, early-onset.
DR MIM; 186580; phenotype.
DR MedGen; C1861303.
DR MeSH; D007592.
DR MeSH; D014605.
//
ID Bleeding disorder, platelet-type, 11.
AC DI-03257
AR BDPLT11.
DE A mild to moderate bleeding disorder caused by defective platelet
DE activation and aggregation in response to collagen.
SY Glycoprotein VI deficiency.
SY GP VI deficiency.
DR MIM; 614201; phenotype.
DR MedGen; C3280120.
DR MeSH; D001791.
DR MeSH; D006470.
//
ID Bleeding disorder, platelet-type, 13.
AC DI-03258
AR BDPLT13.
DE A disorder characterized by reduced platelet aggregation and a
DE tendency to mild mucocutaneous bleeding.
SY Bleeding disorder due to defective platelet thromboxane A2 receptor.
DR MIM; 614009; phenotype.
DR MedGen; C3279614.
DR MeSH; D001791.
DR MeSH; D006470.
//
ID Bleeding disorder, platelet-type, 15.
AC DI-03753
AR BDPLT15.
DE An autosomal dominant form of macrothrombocytopenia. Affected
DE individuals usually have no or only mild bleeding tendency, such as
DE epistaxis. Laboratory studies show decreased numbers of large
DE platelets and anisocytosis, but the platelets show no in vitro
DE functional abnormalities.
SY Autosomal dominant macrothrombocytopenia ACTN1-related.
DR MIM; 615193; phenotype.
DR MedGen; C3554663.
DR MedGen; CN169278.
DR MeSH; D001791.
DR MeSH; D006470.
//
ID Bleeding disorder, platelet-type, 16.
AC DI-03752
AR BDPLT16.
DE An autosomal dominant form of congenital macrothrombocytopenia
DE associated with platelet anisocytosis. It is a disorder of platelet
DE production. Affected individuals may have no or only mildly increased
DE bleeding tendency. In vitro studies show mild platelet functional
DE abnormalities.
SY Glanzmann thrombasthenia-like with macrothrombocytopenia 1.
DR MIM; 187800; phenotype.
DR MedGen; C1861195.
DR MeSH; D006470.
DR MeSH; D013915.
//
ID Bleeding disorder, platelet-type, 17.
AC DI-04008
AR BDPLT17.
DE An autosomal dominant disorder characterized by increased bleeding
DE tendency due to platelet dysfunction, and associated with
DE macrothrombocytopenia and red cell anisopoikilocytosis. Platelets
DE appear abnormal on light microscopy, while electron microscopy shows a
DE heterogeneous decrease of alpha granules within platelets. Bone marrow
DE biopsy shows increased numbers of abnormal megakaryocytes, suggesting
DE a defect in megakaryopoiesis and platelet production. The severity of
DE bleeding is variable with some affected individuals experiencing
DE spontaneous bleeding while other exhibit only abnormal bleeding with
DE surgery.
SY Autosomal dominant macrothrombocytopenia GFI1B-related.
SY Autosomal dominant platelet disorder GFI1B-related.
SY Hereditary thrombasthenia-thrombocytopenia.
DR MIM; 187900; phenotype.
DR MedGen; C1861194.
DR MeSH; D001791.
DR MeSH; D006470.
//
ID Bleeding disorder, platelet-type, 18.
AC DI-04150
AR BDPLT18.
DE A disorder characterized by increased bleeding tendency due to
DE platelet dysfunction. Clinical features include epistaxis, hematomas,
DE bleeding after tooth extraction, and menorrhagia.
DR MIM; 615888; phenotype.
DR MedGen; CN189800.
DR MeSH; D001791.
DR MeSH; D006470.
//
ID Bleeding disorder, platelet-type, 19.
AC DI-04294
AR BDPLT19.
DE A disorder characterized by increased bleeding tendency due to
DE platelet dysfunction. Clinical features include epistaxis, hematomas,
DE bleeding after tooth extraction, and menorrhagia.
DR MIM; 616176; phenotype.
DR MedGen; CN224992.
DR MeSH; D001791.
DR MeSH; D006470.
//
ID Bleeding disorder, platelet-type, 20.
AC DI-04706
AR BDPLT20.
DE A disorder characterized by increased bleeding tendency due to
DE platelet dysfunction. Clinical features include epistaxis, hematomas,
DE bleeding after tooth extraction, and menorrhagia. BDPLT20 is
DE characterized by moderate thrombocytopenia and platelet secretion
DE defects. Inheritance is autosomal dominant.
DR MIM; 616913; phenotype.
DR MedGen; CN236379.
DR MeSH; D001791.
DR MeSH; D006470.
//
ID Bleeding disorder, platelet-type, 21.
AC DI-04984
AR BDPLT21.
DE A disorder characterized by increased bleeding tendency due to
DE platelet dysfunction. Clinical features include epistaxis, hematomas,
DE bleeding after tooth extraction, and menorrhagia. BDPLT21 patients may
DE have mild to moderate thrombocytopenia.
DR MIM; 617443; phenotype.
DR MedGen; CN242283.
DR MeSH; D001791.
DR MeSH; D006470.
//
ID Bleeding disorder, platelet-type, 22.
AC DI-05589
AR BDPLT22.
DE An autosomal recessive disorder characterized by increased bleeding
DE tendency due to platelet dysfunction. Clinical features include
DE epistaxis, hematomas, bleeding after minor injuries, and menorrhagia.
DR MIM; 618462; phenotype.
DR MedGen; CN259043.
DR MeSH; D001791.
DR MeSH; D006470.
//
ID Bleeding disorder, platelet-type, 24.
AC DI-06077
AR BDPLT24.
DE An autosomal dominant disorder of platelet production characterized by
DE congenital macrothrombocytopenia and platelet anisocytosis. Affected
DE individuals may have no or only mildly increased bleeding tendency.
SY Bleeding disorder, platelet-type, 24, autosomal dominant.
SY Glanzmann thrombasthenia-like with macrothrombocytopenia 2.
DR MIM; 619271; phenotype.
DR MedGen; CN296335.
DR MeSH; D001791.
DR MeSH; D006470.
//
ID Bleeding disorder, platelet-type, 8.
AC DI-02867
AR BDPLT8.
DE A condition characterized by mild to moderate mucocutaneous bleeding,
DE and excessive bleeding after surgery or trauma. The defect is due to
DE severe impairment of platelet response to ADP resulting in defective
DE platelet aggregation.
SY ADP platelet receptor P2Y12 deficiency.
SY Bleeding disorder due to P2RY12 defect.
SY P2RY12 deficiency.
SY P2Y12 deficiency.
DR MIM; 609821; phenotype.
DR MedGen; C1853278.
DR MedGen; C3277555.
DR MeSH; D001791.
DR MeSH; D006470.
//
ID Blepharocheilodontic syndrome 1.
AC DI-05103
AR BCDS1.
DE A form of blepharocheilodontic syndrome, a rare autosomal dominant
DE disorder. It is characterized by lower eyelid ectropion, upper eyelid
DE distichiasis, euryblepharon, bilateral cleft lip and palate, and
DE features of ectodermal dysplasia, including hair anomalies, conical
DE teeth and tooth agenesis. An additional rare manifestation is
DE imperforate anus. There is considerable phenotypic variability among
DE affected individuals.
SY BCDS.
SY BCD SYNDROME.
SY Blepharocheilodontic syndrome.
SY Clefting, ectropion, and conical teeth.
SY Ectropion, inferior, with cleft lip and/or palate.
SY Elschnig syndrome.
SY Lagophthalmia with bilateral cleft lip and palate.
DR MIM; 119580; phenotype.
DR MedGen; C1861536.
DR MeSH; D002972.
DR MeSH; D005141.
DR MeSH; D014071.
KW KW-0038:Ectodermal dysplasia.
//
ID Blepharocheilodontic syndrome 2.
AC DI-05104
AR BCDS2.
DE A form of blepharocheilodontic syndrome, a rare autosomal dominant
DE disorder. It is characterized by lower eyelid ectropion, upper eyelid
DE distichiasis, euryblepharon, bilateral cleft lip and palate, and
DE features of ectodermal dysplasia, including hair anomalies, conical
DE teeth and tooth agenesis. An additional rare manifestation is
DE imperforate anus. There is considerable phenotypic variability among
DE affected individuals.
DR MIM; 617681; phenotype.
DR MedGen; CN479606.
DR MeSH; D002972.
DR MeSH; D005141.
DR MeSH; D014071.
KW KW-0038:Ectodermal dysplasia.
//
ID Blepharophimosis, ptosis, and epicanthus inversus syndrome.
AC DI-01287
AR BPES.
DE A disorder characterized by eyelid dysplasia, small palpebral
DE fissures, drooping eyelids and a skin fold curving in the mediolateral
DE direction, inferior to the inner canthus. In type I BPSE (BPES1)
DE eyelid abnormalities are associated with female infertility. Affected
DE females show an ovarian deficit due to primary amenorrhea or to
DE premature ovarian failure (POF). In type II BPSE (BPES2) affected
DE individuals show only the eyelid defects.
SY Autosomal dominant BPES type I.
SY Autosomal recessive BPES type I.
SY Blepharophimosis syndrome.
SY BPES type I.
SY BPES type II.
SY BPES with Duane retraction syndrome.
SY BPES without ovarian failure.
SY BPES with ovarian failure.
DR MIM; 110100; phenotype.
DR MedGen; C0220663.
DR MedGen; C1862260.
DR MedGen; C1862261.
DR MedGen; C1862262.
DR MedGen; C1862263.
DR MedGen; C1862264.
DR MedGen; C1970106.
DR MeSH; D012868.
DR MeSH; D016569.
//
ID Blepharophimosis-impaired intellectual development syndrome.
AC DI-06094
AR BIS.
DE An autosomal dominant congenital syndrome characterized by
DE blepharophimosis, facial dysmorphism, global development delay,
DE delayed motor skills, impaired intellectual development with poor or
DE absent speech, and behavioral abnormalities in some patients.
DE Additional variable features include distal skeletal anomalies,
DE feeding difficulties with poor growth, respiratory infections, and
DE hypotonia with peripheral spasticity.
DR MIM; 619293; phenotype.
DR MedGen; CN296514.
DR MeSH; D005124.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Blistering, acantholytic, of oral and laryngeal mucosa.
AC DI-06040
AR ABOLM.
DE An autosomal recessive disorder characterized by recurrent, suprabasal
DE acantholytic blisters in the oral and laryngeal mucosa. Skin,
DE conjunctival and genital mucosa, nail folds, and nails are unaffected.
DE Normal structure is observed in the scalp epidermis and hair follicle.
DR MIM; 619226; phenotype.
DR MedGen; CN295805.
DR MeSH; D001768.
DR MeSH; D009059.
//
ID Bloom syndrome.
AC DI-00191
AR BLM.
DE An autosomal recessive disorder. It is characterized by proportionate
DE pre- and postnatal growth deficiency, sun-sensitive telangiectatic
DE hypo- and hyperpigmented skin, predisposition to malignancy, and
DE chromosomal instability.
SY BLS.
SY BS.
SY MGRISCE1.
SY Microcephaly, growth restriction, and increased sister chromatid exchange 1.
DR MIM; 210900; phenotype.
DR MedGen; C0005859.
DR MeSH; D001816.
KW KW-0242:Dwarfism.
//
ID Blue cone monochromacy.
AC DI-02866
AR BCM.
DE A rare X-linked congenital stationary cone dysfunction syndrome
DE characterized by the absence of functional long wavelength-sensitive
DE and medium wavelength-sensitive cones in the retina. Color
DE discrimination is severely impaired from birth, and vision is derived
DE from the remaining preserved blue (S) cones and rod photoreceptors.
DE BCM typically presents with reduced visual acuity, pendular nystagmus,
DE and photophobia. Patients often have myopia.
SY Blue cone monochromatism.
SY CBBM.
SY Colorblindness blue-mono-cone-monochromatic type.
DR MIM; 303700; phenotype.
DR MedGen; C0339537.
DR MeSH; D003117.
//
ID Boerjeson-Forssman-Lehmann syndrome.
AC DI-00192
AR BFLS.
DE An X-linked recessive disorder characterized by moderate to severe
DE intellectual disability, epilepsy, hypogonadism, hypometabolism,
DE obesity with marked gynecomastia, swelling of subcutaneous tissue of
DE the face, narrow palpebral fissure and large but not deformed ears.
SY BORJ.
SY Borjeson-Forssman syndrome.
SY Mental deficiency-epilepsy- endocrine disorders.
DR MIM; 301900; phenotype.
DR MedGen; C0265339.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Bohring-Opitz syndrome.
AC DI-01304
AR BOPS.
DE A syndrome characterized by severe intrauterine growth retardation,
DE poor feeding, profound intellectual disability, trigonocephaly,
DE prominent metopic suture, exophthalmos, nevus flammeus of the face,
DE upslanting palpebral fissures, hirsutism, and flexion of the elbows
DE and wrists with deviation of the wrists and metacarpophalangeal
DE joints.
SY Bohring syndrome.
SY C-like syndrome.
SY Opitz trigonocephaly-like syndrome.
DR MIM; 605039; phenotype.
DR MedGen; C0796232.
DR MeSH; D003398.
KW KW-0989:Craniosynostosis.
//
ID Bone marrow failure syndrome 1.
AC DI-03471
AR BMFS1.
DE An autosomal dominant disease characterized by aplastic anemia and
DE myelodysplasia resulting from bone marrow failure. Aplastic anemia is
DE a form of anemia in which the bone marrow fails to produce adequate
DE numbers of peripheral blood elements. Myelodysplasia is a clonal
DE hematopoietic stem cell disorder in which immature cells in the bone
DE marrow become malformed and dysfunctional.
SY BMFF.
SY Familial bone marrow failure.
DR MIM; 614675; phenotype.
DR MedGen; C3553438.
DR MedGen; CN128716.
DR MeSH; D000080983.
//
ID Bone marrow failure syndrome 2.
AC DI-04043
AR BMFS2.
DE An autosomal recessive disorder characterized by trilineage bone
DE marrow failure, bone marrow hypocellularity, learning difficulties,
DE and microcephaly. Insufficient hematopoiesis results in peripheral
DE blood cytopenias, affecting myeloid, erythroid and megakaryocyte
DE lines. Cutaneous features and increased chromosome breakage are not
DE features.
DR MIM; 615715; phenotype.
DR MedGen; C3810350.
DR MedGen; CN185451.
DR MeSH; D000080983.
//
ID Bone marrow failure syndrome 3.
AC DI-04752
AR BMFS3.
DE A form of bone marrow failure syndrome, a heterogeneous group of life-
DE threatening disorders characterized by hematopoietic defects in
DE association with a range of variable extra-hematopoietic
DE manifestations. BMFS3 is characterized by pancytopenia with onset in
DE early childhood. Some patients have additional variable non-specific
DE features, including poor growth, microcephaly, and skin anomalies.
DE BMFS3 inheritance is autosomal recessive.
DR MIM; 617052; phenotype.
DR MedGen; CN237815.
DR MeSH; D000080983.
//
ID Bone marrow failure syndrome 4.
AC DI-05333
AR BMFS4.
DE A form of bone marrow failure syndrome, a heterogeneous group of life-
DE threatening disorders characterized by hematopoietic defects in
DE association with a range of variable extra-hematopoietic
DE manifestations. BMFS4 is characterized by early-onset anemia,
DE leukopenia, decreased B cells, and developmental aberrations including
DE facial dysmorphism, mild skeletal anomalies, and neurodevelopmental
DE delay. BMFS4 inheritance is autosomal recessive.
DR MIM; 618116; phenotype.
DR MedGen; CN253834.
DR MeSH; D000080983.
//
ID Bone marrow failure syndrome 5.
AC DI-05371
AR BMFS5.
DE A form of bone marrow failure syndrome, a heterogeneous group of life-
DE threatening disorders characterized by hematopoietic defects in
DE association with a range of variable extra-hematopoietic
DE manifestations. BMFS5 is an autosomal dominant form characterized by
DE infantile onset of severe red cell anemia requiring transfusion.
DE Additional features include hypogammaglobulinemia, poor growth with
DE microcephaly, developmental delay, and seizures.
DR MIM; 618165; phenotype.
DR MedGen; CN257755.
DR MeSH; D000080983.
//
ID Bone marrow failure syndrome 6.
AC DI-05796
AR BMFS6.
DE A form of bone marrow failure syndrome, a heterogeneous group of life-
DE threatening disorders characterized by hematopoietic defects in
DE association with a range of variable extra-hematopoietic
DE manifestations. BMFS6 is an autosomal dominant form characterized by
DE intermittent neutropenia, lymphopenia, or anemia associated with
DE hypocellular bone marrow, and increased susceptibility to cancer.
DR MIM; 618849; phenotype.
DR MedGen; CN280850.
DR MeSH; D000080983.
//
ID Boomerang dysplasia.
AC DI-01289
AR BOOMD.
DE A perinatal lethal osteochondrodysplasia characterized by absence or
DE underossification of the limb bones and vertebrae. Patients manifest
DE dwarfism with short, bowed, rigid limbs and characteristic facies.
DE Boomerang dysplasia is distinguished from atelosteogenesis on the
DE basis of a more severe defect in mineralization, with complete absence
DE of ossification in some limb elements and vertebral segments.
DR MIM; 112310; phenotype.
DR MedGen; C0432201.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Bosch-Boonstra-Schaaf optic atrophy syndrome.
AC DI-04111
AR BBSOAS.
DE An autosomal dominant disorder characterized by optic atrophy
DE associated with developmental delay and intellectual disability. Most
DE patients also have evidence of cerebral visual impairment.
DR MIM; 615722; phenotype.
DR MedGen; C3810363.
DR MedGen; CN185873.
DR MeSH; D029241.
//
ID Bosley-Salih-Alorainy syndrome.
AC DI-01290
AR BSAS.
DE A disease characterized by horizontal gaze abnormalities, deafness,
DE facial weakness, vascular malformations of the internal carotid
DE arteries and cardiac outflow trac. Some patients manifest intellectual
DE disability and autism spectrum disorder. Affected individuals do not
DE suffer from central hypoventilation.
DR MIM; 601536; phenotype.
DR MedGen; C1832216.
DR MeSH; D006319.
DR MeSH; D009421.
//
ID Bosma arhinia microphthalmia syndrome.
AC DI-04955
AR BAMS.
DE An autosomal dominant syndrome characterized by severe hypoplasia of
DE the nose, palatal abnormalities, hypoplasia of the eyes, sensory
DE abnormalities of taste and smell, hypogonadotropic hypogonadism with
DE cryptorchidism, and normal intelligence.
SY Arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism.
SY Arhinia choanal atresia microphthalmia.
SY Bosma Henkin Christiansen syndrome.
SY Congenital absence of nose and anterior nasopharynx.
DR MIM; 603457; phenotype.
DR MedGen; C1863878.
DR MeSH; D000013.
KW KW-0956:Kallmann syndrome.
KW KW-1013:Microphthalmia.
KW KW-1016:Hypogonadotropic hypogonadism.
//
ID Bothnia retinal dystrophy.
AC DI-00193
AR BRD.
DE A type of retinitis punctata albescens. Affected individuals show
DE night blindness from early childhood with features consistent with
DE retinitis punctata albescens and macular degeneration.
SY Vasterbotten dystrophy.
DR MIM; 607475; phenotype.
DR MedGen; C1843816.
DR MeSH; D058499.
//
ID Boucher-Neuhauser syndrome.
AC DI-04065
AR BNHS.
DE An autosomal recessive disorder characterized by spinocerebellar
DE ataxia, hypogonadotropic hypogonadism, and visual impairment due to
DE chorioretinal dystrophy. The age at onset is variable, but most
DE patients develop 1 or more symptoms in the first decade of life.
DE Chorioretinal dystrophy may not always be present.
SY Spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy.
DR MIM; 215470; phenotype.
DR MedGen; C1859093.
DR MeSH; D007006.
DR MeSH; D013132.
DR MeSH; D058499.
KW KW-0523:Neurodegeneration.
KW KW-1016:Hypogonadotropic hypogonadism.
//
ID Boudin-Mortier syndrome.
AC DI-06231
AR BOMOS.
DE An autosomal recessive disorder characterized by tall stature, long
DE digits, and extra epiphyses in the hands and feet. In addition, some
DE patients show joint hypermobility and dilation of the aortic root.
SY Tall stature and long digits with extra epiphyses.
DR MIM; 619543; phenotype.
DR MedGen; CN300502.
DR MeSH; D006130.
DR MeSH; D017880.
//
ID Bowen-Conradi syndrome.
AC DI-02492
AR BWCNS.
DE A combination of malformations characterized in newborns by low birth
DE weight, microcephaly, mild joint restriction, a prominent nose,
DE micrognathia, fifth finger clinodactyly, and 'rocker-bottom' feet. The
DE syndrome is transmitted as an autosomal recessive trait. The prognosis
DE is poor, with all infants dying within the first few months of life.
SY Bowen syndrome Hutterite type.
DR MIM; 211180; phenotype.
DR MedGen; C1859405.
DR MeSH; D005317.
//
ID Brachycephaly, trichomegaly, and developmental delay.
AC DI-04991
AR BTDD.
DE An autosomal dominant developmental disorder characterized by
DE brachycephaly, ciliary trichomegaly, dysmorphic features of the face
DE and hands, hearing loss, and developmental delay with short stature.
DE Intellectual disability and autism spectrum disorder may be present in
DE some patients.
SY MacInnes syndrome.
SY MCINS.
DR MIM; 617412; phenotype.
DR MedGen; CN241840.
DR MeSH; D000015.
KW KW-0209:Deafness.
KW KW-0242:Dwarfism.
//
ID Brachydactyly A1.
AC DI-00194
AR BDA1.
DE A form of brachydactyly. Brachydactyly defines a group of inherited
DE malformations characterized by shortening of the digits due to
DE abnormal development of the phalanges and/or the metacarpals.
DE Brachydactyly type A1 is characterized by middle phalanges of all the
DE digits rudimentary or fused with the terminal phalanges. The proximal
DE phalanges of the thumbs and big toes are short. BDA1 inheritance is
DE autosomal dominant.
SY Farabee-type brachydactyly.
DR MIM; 112500; phenotype.
DR MedGen; C1862151.
DR MeSH; D059327.
//
ID Brachydactyly A1, C.
AC DI-03654
AR BDA1C.
DE A form of brachydactyly type A1. Brachydactyly defines a group of
DE inherited malformations characterized by shortening of the digits due
DE to abnormal development of the phalanges and/or the metacarpals.
DE Brachydactyly type A1 is characterized by middle phalanges of all the
DE digits rudimentary or fused with the terminal phalanges. The proximal
DE phalanges of the thumbs and big toes are short. BDA1C inheritance can
DE be autosomal dominant or autosomal recessive. Autosomal dominant BDA1C
DE has a milder phenotype.
SY Brachydactyly A1C.
SY Brachydactyly type A1 C.
DR MIM; 615072; phenotype.
DR MedGen; C3554446.
DR MedGen; CN165597.
DR MeSH; D059327.
//
ID Brachydactyly A1, D.
AC DI-04670
AR BDA1D.
DE A form of brachydactyly type A1. Brachydactyly defines a group of
DE inherited malformations characterized by shortening of the digits due
DE to abnormal development of the phalanges and/or the metacarpals.
DE Brachydactyly type A1 is characterized by middle phalanges of all the
DE digits rudimentary or fused with the terminal phalanges. The proximal
DE phalanges of the thumbs and big toes are short. BDA1D inheritance is
DE autosomal dominant.
SY Brachydactyly, type A1, D.
DR MIM; 616849; phenotype.
DR MedGen; CN235465.
DR MeSH; D059327.
//
ID Brachydactyly A2.
AC DI-00195
AR BDA2.
DE A form of brachydactyly. Brachydactyly defines a group of inherited
DE malformations characterized by shortening of the digits due to
DE abnormal development of the phalanges and/or the metacarpals. In
DE brachydactyly type A2 shortening of the middle phalanges is confined
DE to the index finger and the second toe, all other digits being more or
DE less normal. Because of a rhomboid or triangular shape of the affected
DE middle phalanx, the end of the second finger usually deviates
DE radially.
SY Brachymesophalangy II.
SY Mohr-Wriedt type brachydactyly.
DR MIM; 112600; phenotype.
DR MedGen; C1832702.
DR MeSH; D059327.
//
ID Brachydactyly B1.
AC DI-00196
AR BDB1.
DE A form of brachydactyly. Brachydactyly defines a group of inherited
DE malformations characterized by shortening of the digits due to
DE abnormal development of the phalanges and/or the metacarpals. In
DE brachydactyly type B1 the middle phalanges are short but in addition
DE the terminal phalanges are rudimentary or absent. Both fingers and
DE toes are affected. The thumbs and big toes are usually deformed.
DE Symphalangism is also a feature.
SY BDB.
SY Brachydactyly type B.
DR MIM; 113000; phenotype.
DR MedGen; C1862112.
DR MeSH; D059327.
//
ID Brachydactyly B2.
AC DI-02844
AR BDB2.
DE A form of brachydactyly characterized by hypoplasia/aplasia of distal
DE phalanges in combination with distal symphalangism, fusion of
DE carpal/tarsal bones and partial cutaneous syndactyly.
DR MIM; 611377; phenotype.
DR MedGen; C1969652.
DR MeSH; D059327.
//
ID Brachydactyly C.
AC DI-00197
AR BDC.
DE A form of brachydactyly. Brachydactyly defines a group of inherited
DE malformations characterized by shortening of the digits due to
DE abnormal development of the phalanges and/or the metacarpals.
DE Brachydactyly type C is characterized by deformity of the middle and
DE proximal phalanges of the second and third fingers, sometimes with
DE hypersegmentation of the proximal phalanx. The ring finger may be
DE essentially normal and project beyond the others.
SY Brachydactyly Haws type.
DR MIM; 113100; phenotype.
DR MedGen; C1862103.
DR MeSH; D059327.
//
ID Brachydactyly D.
AC DI-00198
AR BDD.
DE A form of brachydactyly. Brachydactyly defines a group of inherited
DE malformations characterized by shortening of the digits due to
DE abnormal development of the phalanges and/or the metacarpals.
DE Brachydactyly type D is characterized by short and broad terminal
DE phalanges of the thumbs and big toes.
SY Stub thumb.
DR MIM; 113200; phenotype.
DR MedGen; C0220664.
DR MeSH; D059327.
//
ID Brachydactyly E1.
AC DI-00199
AR BDE1.
DE A form of brachydactyly. Brachydactyly defines a group of inherited
DE malformations characterized by shortening of the digits due to
DE abnormal development of the phalanges and/or the metacarpals.
DE Brachydactyly type E is characterized by shortening of the fingers
DE mainly in the metacarpals and metatarsals. Wide variability in the
DE number of digits affected occurs from person to person, even in the
DE same family. Some individuals are moderately short of stature.
DE Brachydactyly type E1 is characterized by shortening limited to fourth
DE metacarpals and/or metatarsals.
SY BDE.
SY Brachydactyly type E.
DR MIM; 113300; phenotype.
DR MedGen; C1862102.
DR MeSH; D059327.
//
ID Brachydactyly E2.
AC DI-02711
AR BDE2.
DE A form of brachydactyly. Brachydactyly defines a group of inherited
DE malformations characterized by shortening of the digits due to
DE abnormal development of the phalanges and/or the metacarpals.
DE Brachydactyly type E is characterized by shortening of the fingers
DE mainly in the metacarpals and metatarsals. Wide variability in the
DE number of digits affected occurs from person to person, even in the
DE same family. Some individuals are moderately short of stature. In
DE brachydactyly type E2 variable combinations of metacarpals are
DE involved, with shortening also of the first and third distal and the
DE second and fifth middle phalanges.
DR MIM; 613382; phenotype.
DR MedGen; C3150644.
DR MeSH; D059327.
//
ID Brachydactyly-syndactyly syndrome.
AC DI-01291
AR BDSD.
DE A disease characterized by generalized shortening of the hands and
DE feet, broad and short distal phalanges of the thumbs, and cutaneous
DE syndactyly of toes 2 and 3. The limb phenotypes observed in this
DE syndrome overlap those of brachydactyly types A4, D, E and syndactyly
DE type 1.
DR MIM; 610713; phenotype.
DR MedGen; C1853137.
DR MeSH; D013576.
DR MeSH; D059327.
//
ID Brachydactyly-syndactyly-oligodactyly syndrome.
AC DI-04740
AR BDSDO.
DE A syndrome characterized by a complex brachydactyly-syndactyly-
DE oligodactyly phenotype. Limb anomalies include reduced number of
DE digits that are severely shortened, camptodactyly, syndactyly, absence
DE of terminal phalanges of the thumbs, and absence of nails of the
DE thumbs and toes.
DR MIM; 610713; phenotype.
DR MedGen; C1853137.
DR MeSH; D013576.
DR MeSH; D059327.
//
ID Brachyolmia 3.
AC DI-01292
AR BCYM3.
DE A form of brachyolmia, a clinically and genetically heterogeneous
DE skeletal dysplasia primarily affecting the spine and characterized by
DE a short trunk, short stature, and platyspondyly. BCYM3 is an autosomal
DE dominant form with severe scoliosis with or without kyphosis, and
DE flattened irregular cervical vertebrae.
SY Autosomal dominant brachyolmia.
SY Brachyrachia.
DR MIM; 113500; phenotype.
DR MedGen; C0432227.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Brachyolmia type 4 with mild epiphyseal and metaphyseal changes.
AC DI-02331
AR BCYM4.
DE A form of brachyolmia, a clinically and genetically heterogeneous
DE skeletal dysplasia primarily affecting the spine and characterized by
DE a short trunk, short stature, and platyspondyly. BCYM4 is an autosomal
DE recessive form with mild epiphyseal and metaphyseal changes. Clinical
DE features include short stature evidenced at birth, short and bowed
DE lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait,
DE enlarged knee joints. Some BCYM4 patients may manifest premature
DE pubarche and hyperandrogenism associated with skeletal dysplasia and
DE short stature.
SY SEMD Pakistani type.
SY Spondylodysplasia and premature pubarche.
SY Spondylometaepiphyseal dysplasia Pakistani type.
DR MIM; 612847; phenotype.
DR MedGen; C2748515.
DR MedGen; C2748516.
DR MeSH; D001848.
KW KW-0242:Dwarfism.
//
ID Brain abnormalities, neurodegeneration, and dysosteosclerosis.
AC DI-05595
AR BANDDOS.
DE An autosomal recessive disease with variable manifestations. Main
DE features are brain malformations with calcifying leukoencephalopathy,
DE progressive neurodegeneration, and bone sclerotic features. The age at
DE onset ranges from infancy to early adulthood. Neurologic features
DE include loss of previous motor and language skills, cognitive
DE impairment, spasticity, and focal seizures. Brain imaging shows
DE periventricular white matter abnormalities and calcifications, large
DE cisterna magna or Dandy-Walker malformation, and sometimes agenesis of
DE the corpus callosum.
DR MIM; 618476; phenotype.
DR MedGen; CN260170.
DR MeSH; D010026.
DR MeSH; D019636.
KW KW-0523:Neurodegeneration.
//
ID Brain malformations with or without urinary tract defects.
AC DI-04979
AR BRMUTD.
DE A syndrome characterized by corpus callosum hypoplasia or agenesis,
DE hydrocephalus or ventricular enlargement, developmental delay, and
DE urinary tract defects.
DR MIM; 613735; phenotype.
DR MedGen; C3151036.
DR MeSH; D001927.
DR MeSH; D007674.
//
ID Brain small vessel disease 1 with or without ocular anomalies.
AC DI-02182
AR BSVD1.
DE An autosomal dominant cerebrovascular disorder with variable
DE manifestations reflecting the location and severity of the vascular
DE defect. BSVD1 features include cerebral hemorrage, unilateral fluid-
DE filled cysts or cavities within the cerebral hemispheres,
DE leukoencephalopathy, hemiplegia, seizures, intellectual disability,
DE and facial paresis. Affected individuals may manifest variable visual
DE defects and ocular anomalies.
SY ADT1P.
SY Hemiplegia infantile with porencephaly type 1.
SY POREN1.
SY Porencephaly 1.
SY Porencephaly type 1.
SY Porencephaly type 1 autosomal dominant.
SY T1P.
DR MIM; 175780; phenotype.
DR MedGen; C1867983.
DR MeSH; D001927.
//
ID Brain small vessel disease 2.
AC DI-03378
AR BSVD2.
DE An autosomal dominant cerebrovascular disorder with variable
DE manifestations reflecting the location and severity of the vascular
DE defect. BSVD2 features include intracranial hemorrage, fluid-filled
DE cysts or cavities within the cerebral hemispheres, delayed psychomotor
DE development, hemiplegia, spasticity and seizures.
SY POREN2.
SY Porencephaly 2.
DR MIM; 614483; phenotype.
DR MedGen; C3280970.
DR MeSH; D001927.
//
ID Brain small vessel disease 3.
AC DI-05511
AR BSVD3.
DE An autosomal recessive form of brain small vessel disease, a
DE cerebrovascular disorder with variable manifestations reflecting the
DE location and severity of the vascular defect. BSVD3 patients may have
DE disease onset in utero or early infancy with subsequent global
DE developmental delay, spasticity, and porencephaly on brain imaging.
DE Other patients may have normal or mildly delayed development with
DE sudden onset of intracranial hemorrhage causing acute neurologic
DE deterioration.
DR MIM; 618360; phenotype.
DR MedGen; CN258256.
DR MeSH; D001927.
//
ID Branched-chain ketoacid dehydrogenase kinase deficiency.
AC DI-03567
AR BCKDKD.
DE A metabolic disorder characterized by autism, epilepsy, intellectual
DE disability, and reduced branched-chain amino acids.
DR MIM; 614923; phenotype.
DR MedGen; C3554078.
DR MedGen; CN160491.
DR MeSH; D001321.
DR MeSH; D004827.
DR MeSH; D008607.
DR MeSH; D020739.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
KW KW-1269:Autism.
//
ID Branchiooculofacial syndrome.
AC DI-01294
AR BOFS.
DE A syndrome characterized by growth retardation, bilateral branchial
DE sinus defects with hemangiomatous, scarred skin, cleft lip with or
DE without cleft palate, pseudocleft of the upper lip, nasolacrimal duct
DE obstruction, low set ears with posterior rotation, a malformed,
DE asymmetrical nose with a broad bridge and flattened tip, conductive or
DE sensorineural deafness, ocular and renal anomalies.
SY BOF syndrome.
SY Branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging.
SY Branchio-oculo-facial syndrome.
SY Hemangiomatous branchial clefts-lip pseudocleft syndrome.
SY Lip pseudocleft-hemangiomatous branchial cyst syndrome.
DR MIM; 113620; phenotype.
DR MedGen; C0376524.
DR MeSH; D019280.
//
ID Branchiootic syndrome 1.
AC DI-01295
AR BOS1.
DE A syndrome characterized by usually bilateral branchial cleft fistulas
DE or cysts, sensorineural and/or conductive hearing loss, pre-auricular
DE pits, and structural defects of the outer, middle or inner ear. Otic
DE defects include malformed and hypoplastic pinnae, a narrowed external
DE ear canal, bulbous internal auditory canal, stapes fixation, malformed
DE and hypoplastic cochlea. Branchial and otic anomalies overlap with
DE those seen in individuals with the branchiootorenal syndrome. However
DE renal anomalies are absent in branchiootic syndrome patients.
SY BO syndrome 1.
SY Branchio-otic dysplasia 1.
SY Branchio-otic syndrome 1.
DR MIM; 602588; phenotype.
DR MedGen; C1865143.
DR MeSH; D003638.
KW KW-0209:Deafness.
//
ID Branchiootic syndrome 3.
AC DI-01296
AR BOS3.
DE A syndrome characterized by usually bilateral branchial cleft fistulas
DE or cysts, sensorineural and/or conductive hearing loss, pre-auricular
DE pits, and structural defects of the outer, middle or inner ear. Otic
DE defects include malformed and hypoplastic pinnae, a narrowed external
DE ear canal, bulbous internal auditory canal, stapes fixation, malformed
DE and hypoplastic cochlea. Branchial and otic anomalies overlap with
DE those seen in individuals with the branchiootorenal syndrome. However
DE renal anomalies are absent in branchiootic syndrome patients.
SY BO syndrome 3.
SY Branchio-otic dysplasia 3.
SY Branchio-otic syndrome 3.
DR MIM; 608389; phenotype.
DR MedGen; C1842124.
DR MeSH; D003638.
KW KW-0209:Deafness.
//
ID Branchiootorenal syndrome 1.
AC DI-01297
AR BOR1.
DE A syndrome characterized by branchial cleft fistulas or cysts,
DE sensorineural and/or conductive hearing loss, pre-auricular pits,
DE structural defects of the outer, middle or inner ear, and renal
DE malformations.
SY BOR syndrome 1.
SY Branchiootorenal dysplasia 1.
SY Branchio-oto-renal dysplasia 1.
SY Branchio-oto-renal syndrome type 1.
SY Melnick-Fraser syndrome.
DR MIM; 113650; phenotype.
DR MedGen; C2936782.
DR MeSH; D019280.
KW KW-0209:Deafness.
//
ID Branchiootorenal syndrome 2.
AC DI-01298
AR BOR2.
DE A syndrome characterized by branchial cleft fistulas or cysts,
DE sensorineural and/or conductive hearing loss, pre-auricular pits,
DE structural defects of the outer, middle or inner ear, and renal
DE malformations.
SY BOR syndrome 2.
SY Branchiootorenal dysplasia 2.
SY Branchio-oto-renal dysplasia 2.
SY Branchio-oto-renal syndrome type 2.
DR MIM; 610896; phenotype.
DR MedGen; C1970479.
DR MeSH; D019280.
KW KW-0209:Deafness.
//
ID Breast cancer.
AC DI-02602
AR BC.
DE A common malignancy originating from breast epithelial tissue. Breast
DE neoplasms can be distinguished by their histologic pattern. Invasive
DE ductal carcinoma is by far the most common type. Breast cancer is
DE etiologically and genetically heterogeneous. Important genetic factors
DE have been indicated by familial occurrence and bilateral involvement.
DE Mutations at more than one locus can be involved in different families
DE or even in the same case.
SY Breast cancer familial.
SY Breast cancer familial male.
SY Breast carcinoma.
SY Mammary carcinoma.
DR MIM; 114480; phenotype.
DR MedGen; C0006142.
DR MedGen; C1861906.
DR MeSH; D001943.
//
ID Breast cancer, lobular.
AC DI-03803
AR LBC.
DE A type of breast cancer that begins in the milk-producing glands
DE (lobules) of the breast.
DR MIM; 137215; phenotype.
DR MedGen; C3549742.
DR MedGen; CN178073.
DR MeSH; D001943.
//
ID Breast-ovarian cancer, familial, 1.
AC DI-01559
AR BROVCA1.
DE A condition associated with familial predisposition to cancer of the
DE breast and ovaries. Characteristic features in affected families are
DE an early age of onset of breast cancer (often before age 50),
DE increased chance of bilateral cancers (cancer that develop in both
DE breasts, or both ovaries, independently), frequent occurrence of
DE breast cancer among men, increased incidence of tumors of other
DE specific organs, such as the prostate.
SY Breast cancer familial 1.
SY Ovarian cancer familial 1.
DR MIM; 604370; phenotype.
DR MedGen; C2676676.
DR MedGen; C2676677.
DR MedGen; C2676678.
DR MeSH; D001943.
DR MeSH; D010051.
//
ID Breast-ovarian cancer, familial, 2.
AC DI-02603
AR BROVCA2.
DE A condition associated with familial predisposition to cancer of the
DE breast and ovaries. Characteristic features in affected families are
DE an early age of onset of breast cancer (often before age 50),
DE increased chance of bilateral cancers (cancer that develop in both
DE breasts, or both ovaries, independently), frequent occurrence of
DE breast cancer among men, increased incidence of tumors of other
DE specific organs, such as the prostate.
SY Breast cancer familial 2.
SY Ovarian cancer familial 2.
DR MIM; 612555; phenotype.
DR MedGen; C2675520.
DR MedGen; C2675521.
DR MedGen; C2675522.
DR MeSH; D001943.
DR MeSH; D010051.
//
ID Breast-ovarian cancer, familial, 3.
AC DI-02774
AR BROVCA3.
DE A condition associated with familial predisposition to cancer of the
DE breast and ovaries. Characteristic features in affected families are
DE an early age of onset of breast cancer (often before age 50),
DE increased chance of bilateral cancers (cancer that develop in both
DE breasts, or both ovaries, independently), frequent occurrence of
DE breast cancer among men, increased incidence of tumors of other
DE specific organs, such as the prostate.
SY Breast cancer familial 3.
SY Ovarian cancer familial 3.
DR MIM; 613399; phenotype.
DR MedGen; C3150659.
DR MedGen; C3150660.
DR MedGen; C3150661.
DR MeSH; D001943.
DR MeSH; D010051.
//
ID Breast-ovarian cancer, familial, 4.
AC DI-03288
AR BROVCA4.
DE A condition associated with familial predisposition to cancer of the
DE breast and ovaries. Characteristic features in affected families are
DE an early age of onset of breast cancer (often before age 50),
DE increased chance of bilateral cancers (cancer that develop in both
DE breasts, or both ovaries, independently), frequent occurrence of
DE breast cancer among men, increased incidence of tumors of other
DE specific organs, such as the prostate.
SY Breast cancer familial 4.
SY Ovarian cancer familial 4.
DR MIM; 614291; phenotype.
DR MedGen; C3280345.
DR MedGen; CN117842.
DR MeSH; D001943.
DR MeSH; D010051.
//
ID Brittle cornea syndrome 1.
AC DI-00441
AR BCS1.
DE A disorder characterized by extreme corneal thinning resulting in
DE corneal rupture after minor trauma, blue sclerae, keratoconus or
DE keratoglobus, hyperelasticity of the skin, and hypermobility of the
DE joints. It shares some features with, but is much less severe than,
DE the ocular form of Ehlers-Danlos syndrome (EDS6).
SY Corneal fragility keratoglobus blue sclerae joint hyperextensibility.
SY Dysgenesis mesodermalis corneae et sclerae.
SY EDS6B formerly.
SY Ehlers-Danlos syndrome type VIB formerly.
SY Fragilitas oculi with joint hyperextensibility.
DR MIM; 229200; phenotype.
DR MedGen; C0268344.
DR MeSH; D004535.
//
ID Brittle cornea syndrome 2.
AC DI-03176
AR BCS2.
DE A disorder characterized by extreme corneal thinning resulting in
DE corneal rupture after minor trauma, blue sclerae, keratoconus or
DE keratoglobus, hyperelasticity of the skin, and hypermobile joints.
DR MIM; 614170; phenotype.
DR MedGen; C3280011.
DR MeSH; D004535.
//
ID Brody disease.
AC DI-00200
AR BROD.
DE An autosomal recessive muscular disorder characterized by exercise-
DE induced muscle stiffness and cramps primarily affecting the arms,
DE legs, and eyelids, although more generalized muscle involvement may
DE also occur.
SY Brody myopathy.
DR MIM; 601003; phenotype.
DR MedGen; C1832918.
DR MeSH; D009120.
//
ID Bronchiectasis with or without elevated sweat chloride 1.
AC DI-02489
AR BESC1.
DE A debilitating respiratory disease characterized by chronic, abnormal
DE dilatation of the bronchi and other cystic fibrosis-like symptoms in
DE the absence of known causes of bronchiectasis (cystic fibrosis,
DE autoimmune diseases, ciliary dyskinesia, common variable
DE immunodeficiency, foreign body obstruction). Clinical features include
DE sub-normal lung function, sinopulmonary infections, chronic productive
DE cough, excessive sputum production, and elevated sweat chloride in
DE some cases.
SY Cystic fibrosis-like syndrome.
DR MIM; 211400; phenotype.
DR MedGen; C0006267.
DR MedGen; C2749757.
DR MeSH; D001987.
//
ID Bronchiectasis with or without elevated sweat chloride 2.
AC DI-02475
AR BESC2.
DE A debilitating respiratory disease characterized by chronic, abnormal
DE dilatation of the bronchi and other cystic fibrosis-like symptoms in
DE the absence of known causes of bronchiectasis (cystic fibrosis,
DE autoimmune diseases, ciliary dyskinesia, common variable
DE immunodeficiency, foreign body obstruction). Clinical features include
DE sub-normal lung function, sinopulmonary infections, chronic productive
DE cough, excessive sputum production, and elevated sweat chloride in
DE some cases.
SY Cystic fibrosis-like syndrome.
DR MIM; 613021; phenotype.
DR MedGen; C2751666.
DR MeSH; D001987.
//
ID Bronchiectasis with or without elevated sweat chloride 3.
AC DI-02488
AR BESC3.
DE A debilitating respiratory disease characterized by chronic, abnormal
DE dilatation of the bronchi and other cystic fibrosis-like symptoms in
DE the absence of known causes of bronchiectasis (cystic fibrosis,
DE autoimmune diseases, ciliary dyskinesia, common variable
DE immunodeficiency, foreign body obstruction). Clinical features include
DE sub-normal lung function, sinopulmonary infections, chronic productive
DE cough, excessive sputum production, and elevated sweat chloride in
DE some cases.
SY Cystic fibrosis-like syndrome.
DR MIM; 613071; phenotype.
DR MedGen; C2751324.
DR MeSH; D001987.
//
ID Brooke-Spiegler syndrome.
AC DI-00201
AR BRSS.
DE An autosomal dominant disorder characterized by the appearance of
DE multiple skin appendage tumors such as cylindroma, trichoepithelioma,
DE and spiradenoma. These tumors are typically located in the head and
DE neck region, appear in early adulthood, and gradually increase in size
DE and number throughout life.
SY BSS.
SY SBS.
SY Spiegler-Brooke syndrome.
DR MIM; 605041; phenotype.
DR MedGen; C1857941.
DR MeSH; D018280.
//
ID Brown-Vialetto-Van Laere syndrome 1.
AC DI-02727
AR BVVLS1.
DE A rare neurologic disorder characterized by sensorineural hearing loss
DE and a variety of cranial nerve palsies, which develop over a
DE relatively short period of time in a previously healthy individual.
DE Sensorineural hearing loss may precede the neurological signs. The
DE course is invariably progressive, but the rate of decline is variable
DE within and between families. With disease evolution, long tract signs,
DE lower motor neuron signs, cerebellar ataxia and lower cranial nerve
DE (III-VI) palsies develop, giving rise to a complex picture resembling
DE amyotrophic lateral sclerosis. Diaphragmatic weakness and respiratory
DE compromise are some of the most distressing features, leading to
DE recurrent chest infections and respiratory failure, which are often
DE the cause of patients' demise.
SY Bulbar palsy progressive with sensorineural deafness.
SY Pontobulbar palsy with deafness.
DR MIM; 211530; phenotype.
DR MedGen; C0796274.
DR MeSH; D006319.
DR MeSH; D010244.
KW KW-0209:Deafness.
//
ID Brown-Vialetto-Van Laere syndrome 2.
AC DI-03494
AR BVVLS2.
DE An autosomal recessive progressive neurologic disorder characterized
DE by early childhood onset of sensorineural deafness, bulbar
DE dysfunction, and severe diffuse muscle weakness and wasting resulting
DE in respiratory insufficiency and loss of independent ambulation.
DE Because it results from a defect in riboflavin metabolism, some
DE patients may benefit from high-dose riboflavin supplementation.
DR MIM; 614707; phenotype.
DR MedGen; C3553538.
DR MedGen; CN130353.
DR MeSH; D006319.
DR MeSH; D010244.
KW KW-0209:Deafness.
//
ID Bruck syndrome 1.
AC DI-03760
AR BRKS1.
DE A disease characterized by generalized osteopenia, congenital joint
DE contractures, fragile bones with onset of fractures in infancy or
DE early childhood, short stature, severe limb deformity, progressive
DE scoliosis, and pterygia.
SY Arthrogryposis-like disorder.
SY Kuskokwim disease.
DR MIM; 259450; phenotype.
DR MedGen; C1850168.
DR MeSH; D001176.
DR MeSH; D010009.
//
ID Bruck syndrome 2.
AC DI-01299
AR BRKS2.
DE An autosomal recessive disease characterized by generalized
DE osteopenia, congenital joint contractures, fragile bones with onset of
DE fractures in infancy or early childhood, short stature, severe limb
DE deformity, progressive scoliosis, and pterygia. It is distinguished
DE from osteogenesis imperfecta by the absence of hearing loss and
DE dentinogenesis imperfecta, and by the presence of clubfoot and
DE congenital joint limitations.
SY Osteogenesis imperfecta with congenital joint contractures.
DR MIM; 609220; phenotype.
DR MedGen; C1836602.
DR MeSH; D001176.
DR MeSH; D010009.
//
ID Brugada syndrome 1.
AC DI-00202
AR BRGDA1.
DE A tachyarrhythmia characterized by right bundle branch block and ST
DE segment elevation on an electrocardiogram (ECG). It can cause the
DE ventricles to beat so fast that the blood is prevented from
DE circulating efficiently in the body. When this situation occurs, the
DE individual will faint and may die in a few minutes if the heart is not
DE reset.
DR MIM; 601144; phenotype.
DR MedGen; C1142166.
DR MedGen; CN029323.
DR MeSH; D053840.
KW KW-0992:Brugada syndrome.
//
ID Brugada syndrome 2.
AC DI-00203
AR BRGDA2.
DE A tachyarrhythmia characterized by right bundle branch block and ST
DE segment elevation on an electrocardiogram (ECG). It can cause the
DE ventricles to beat so fast that the blood is prevented from
DE circulating efficiently in the body. When this situation occurs, the
DE individual will faint and may die in a few minutes if the heart is not
DE reset.
DR MIM; 611777; phenotype.
DR MedGen; C2673193.
DR MeSH; D053840.
KW KW-0992:Brugada syndrome.
//
ID Brugada syndrome 3.
AC DI-00204
AR BRGDA3.
DE A heart disease characterized by the association of Brugada syndrome
DE with shortened QT intervals. Brugada syndrome is a tachyarrhythmia
DE characterized by right bundle branch block and ST segment elevation on
DE an electrocardiogram (ECG). It can cause the ventricles to beat so
DE fast that the blood is prevented from circulating efficiently in the
DE body. When this situation occurs, the individual will faint and may
DE die in a few minutes if the heart is not reset.
DR MIM; 611875; phenotype.
DR MedGen; C2678478.
DR MeSH; D053840.
KW KW-0992:Brugada syndrome.
//
ID Brugada syndrome 4.
AC DI-00205
AR BRGDA4.
DE A heart disease characterized by the association of Brugada syndrome
DE with shortened QT intervals. Brugada syndrome is a tachyarrhythmia
DE characterized by right bundle branch block and ST segment elevation on
DE an electrocardiogram (ECG). It can cause the ventricles to beat so
DE fast that the blood is prevented from circulating efficiently in the
DE body. When this situation occurs, the individual will faint and may
DE die in a few minutes if the heart is not reset.
DR MIM; 611876; phenotype.
DR MedGen; C2678477.
DR MeSH; D053840.
KW KW-0992:Brugada syndrome.
//
ID Brugada syndrome 5.
AC DI-02502
AR BRGDA5.
DE A tachyarrhythmia characterized by right bundle branch block and ST
DE segment elevation on an electrocardiogram (ECG). It can cause the
DE ventricles to beat so fast that the blood is prevented from
DE circulating efficiently in the body. When this situation occurs, the
DE individual will faint and may die in a few minutes if the heart is not
DE reset.
DR MIM; 612838; phenotype.
DR MedGen; C2748541.
DR MeSH; D053840.
KW KW-0992:Brugada syndrome.
//
ID Brugada syndrome 6.
AC DI-02501
AR BRGDA6.
DE A tachyarrhythmia characterized by right bundle branch block and ST
DE segment elevation on an electrocardiogram (ECG). It can cause the
DE ventricles to beat so fast that the blood is prevented from
DE circulating efficiently in the body. When this situation occurs, the
DE individual will faint and may die in a few minutes if the heart is not
DE reset.
DR MIM; 613119; phenotype.
DR MedGen; C2751089.
DR MeSH; D053840.
KW KW-0992:Brugada syndrome.
//
ID Brugada syndrome 7.
AC DI-02503
AR BRGDA7.
DE A tachyarrhythmia characterized by right bundle branch block and ST
DE segment elevation on an electrocardiogram (ECG). It can cause the
DE ventricles to beat so fast that the blood is prevented from
DE circulating efficiently in the body. When this situation occurs, the
DE individual will faint and may die in a few minutes if the heart is not
DE reset.
DR MIM; 613120; phenotype.
DR MedGen; C2751088.
DR MeSH; D053840.
KW KW-0992:Brugada syndrome.
//
ID Brugada syndrome 8.
AC DI-02557
AR BRGDA8.
DE A tachyarrhythmia characterized by right bundle branch block and ST
DE segment elevation on an electrocardiogram (ECG). It can cause the
DE ventricles to beat so fast that the blood is prevented from
DE circulating efficiently in the body. When this situation occurs, the
DE individual will faint and may die in a few minutes if the heart is not
DE reset.
DR MIM; 613123; phenotype.
DR MedGen; C2751083.
DR MeSH; D053840.
KW KW-0992:Brugada syndrome.
//
ID Brugada syndrome 9.
AC DI-04444
AR BRGDA9.
DE A tachyarrhythmia characterized by right bundle branch block and ST
DE segment elevation on an electrocardiogram (ECG). It can cause the
DE ventricles to beat so fast that the blood is prevented from
DE circulating efficiently in the body. When this situation occurs, the
DE individual will faint and may die in a few minutes if the heart is not
DE reset.
DR MIM; 616399; phenotype.
DR MedGen; CN231147.
DR MeSH; D053840.
KW KW-0992:Brugada syndrome.
//
ID Brunet-Wagner neurodevelopmental syndrome.
AC DI-06308
AR BRUWAG.
DE An autosomal recessive disorder characterized by severe developmental
DE delay, intellectual disability, poor or absent speech, infantile
DE hypotonia, inability to walk, behavioral abnormalities, and dysmorphic
DE features.
DR MIM; 619690; phenotype.
DR MedGen; CN305745.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Brunner syndrome.
AC DI-00206
AR BRNRS.
DE A form of X-linked non-dysmorphic mild intellectual disability. Male
DE patients are affected by borderline intellectual deficit and exhibit
DE abnormal behavior, including disturbed regulation of impulsive
DE aggression. Obligate female carriers have normal intelligence and
DE behavior.
SY Susceptibility to antisocial behavior.
DR MIM; 300615; phenotype.
DR MedGen; C0796275.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Bryant-Li-Bhoj neurodevelopmental syndrome 1.
AC DI-06327
AR BRYLIB1.
DE An autosomal dominant disorder predominantly characterized by global
DE developmental delay, impaired intellectual development, poor or absent
DE speech, and delayed motor milestones. Clinical manifestations are
DE highly variable, including abnormal head shape, dysmorphic facial
DE features, oculomotor abnormalities, feeding problems, and non-specific
DE brain imaging abnormalities. Additional features may include hearing
DE loss, seizures, short stature, and mild skeletal defects.
DR MIM; 619720; phenotype.
DR MedGen; CN306229.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Bryant-Li-Bhoj neurodevelopmental syndrome 2.
AC DI-06328
AR BRYLIB2.
DE An autosomal dominant disorder predominantly characterized by global
DE developmental delay, impaired intellectual development, poor or absent
DE speech, and delayed motor milestones. Clinical manifestations are
DE highly variable, including abnormal head shape, dysmorphic facial
DE features, oculomotor abnormalities, feeding problems, and non-specific
DE brain imaging abnormalities. Additional features may include hearing
DE loss, seizures, short stature, and mild skeletal defects.
DR MIM; 619721; phenotype.
DR MedGen; CN306230.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Budd-Chiari syndrome.
AC DI-01300
AR BDCHS.
DE A syndrome caused by obstruction of hepatic venous outflow involving
DE either the hepatic veins or the terminal segment of the inferior vena
DE cava. Obstructions are generally caused by thrombosis and lead to
DE hepatic congestion and ischemic necrosis. Clinical manifestations
DE observed in the majority of patients include hepatomegaly, right upper
DE quadrant pain and abdominal ascites. Budd-Chiari syndrome is
DE associated with a combination of disease states including primary
DE myeloproliferative syndromes and thrombophilia due to factor V Leiden,
DE protein C deficiency and antithrombin III deficiency. Budd-Chiari
DE syndrome is a rare but typical complication in patients with
DE polycythemia vera.
SY Chiari syndrome.
SY Membranous obstruction of the inferior vena cava.
SY MOVC.
DR MIM; 600880; phenotype.
DR MedGen; C0546323.
DR MedGen; C0856761.
DR MeSH; D006502.
//
ID Bulimia nervosa 2.
AC DI-04567
AR BULN2.
DE A psychiatric disorder characterized by eating an unusually large
DE amount of food in a short period of time, followed by inappropriate
DE acts (purging) to avert weight gain. Compensatory behavior includes
DE self-induced vomiting, laxative abuse, and excessive exercise.
DR MIM; 607499; phenotype.
DR MedGen; C1853220.
DR MeSH; D052018.
//
ID Buratti-Harel syndrome.
AC DI-06101
AR BURHAS.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE hypotonia apparent in early infancy, global developmental delay,
DE delayed walking, language and speech delay, impaired intellectual
DE development, and dysmorphic facial features.
DR MIM; 619314; phenotype.
DR MedGen; CN296784.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Burkitt lymphoma.
AC DI-02613
AR BL.
DE A form of undifferentiated malignant lymphoma commonly manifested as a
DE large osteolytic lesion in the jaw or as an abdominal mass.
SY Burkitt tumor.
DR MIM; 113970; phenotype.
DR MedGen; C0006413.
DR MeSH; D002051.
//
ID Burn-McKeown syndrome.
AC DI-04322
AR BMKS.
DE A disease characterized by choanal atresia, sensorineural deafness,
DE cardiac defects, and typical craniofacial dysmorphism consisting of
DE narrow palpebral fissures, coloboma of the lower eyelids, prominent
DE nose with high nasal bridge, short philtrum, cleft lip and/or palate,
DE and large and protruding ears. Intellectual development is normal.
SY Oculootofacial dysplasia.
SY OOFD.
DR MIM; 608572; phenotype.
DR MedGen; C1837822.
DR MeSH; D002754.
DR MeSH; D003638.
DR MeSH; D006330.
DR MeSH; D019066.
KW KW-0209:Deafness.
//
ID Buschke-Ollendorff syndrome.
AC DI-01301
AR BOS.
DE A disease characterized by osteopoikilosis and disseminated
DE connective-tissue nevi. Osteopoikilosis is a skeletal dysplasia
DE characterized by a symmetric but unequal distribution of multiple
DE hyperostotic areas in different parts of the skeleton. Elastic-type
DE nevi (juvenile elastoma) and collagen-type nevi (dermatofibrosis
DE lenticularis disseminata) have been described in BOS. Skin or bony
DE lesions can be absent in some family members, whereas other relatives
DE may have both.
SY Dermatofibrosis lenticularis disseminata with osteopoikilosis.
SY Dermatoosteopoikilosis.
SY Disseminated dermatofibrosis with osteopoikilosis.
SY Osteopathia condensans disseminata.
DR MIM; 166700; phenotype.
DR MedGen; C0265514.
DR MedGen; C1833699.
DR MedGen; C3149695.
DR MeSH; D010023.
DR MeSH; D012873.
//
ID Butyrylcholinesterase deficiency.
AC DI-01302
AR BCHED.
DE An autosomal recessive metabolic condition characterized by increased
DE sensitivity to certain anesthetic drugs, including the muscle
DE relaxants succinylcholine or mivacurium. BCHED results in slower
DE hydrolysis of these drugs and, consequently, a prolonged neuromuscular
DE block, leading to apnea. The duration of the prolonged apnea varies
DE significantly depending on the extent of the enzyme deficiency.
SY Acholinesterasemia.
SY Fluoride-resistant butyrylcholinesterase deficiency Japanese type.
SY Fluoride-resistant hypocholinesterasemia Japanese type.
SY Postanesthetic apnea.
SY Pseudocholinesterase deficiency.
SY Suxamethonium sensitivity.
DR MIM; 617936; phenotype.
DR MedGen; C0268379.
DR MedGen; C1283400.
DR MedGen; C1622434.
DR MedGen; C1867467.
DR MedGen; C1867468.
DR MedGen; C1867469.
DR MedGen; C1867470.
DR MeSH; D008661.
//
ID C syndrome.
AC DI-01303
AR CSYN.
DE A syndrome characterized by trigonocephaly, severe intellectual
DE disability, hypotonia, variable cardiac defects, redundant skin, and
DE dysmorphic facial features, including upslanted palpebral fissures,
DE epicanthal folds, depressed nasal bridge, and low-set, posteriorly
DE rotated ears.
SY Opitz trigonocephaly syndrome.
SY Trigonocephaly syndrome.
DR MIM; 211750; phenotype.
DR MedGen; C0796095.
DR MeSH; D003398.
KW KW-0989:Craniosynostosis.
//
ID Caffey disease.
AC DI-01310
AR CAFYD.
DE An autosomal dominant disorder characterized by an infantile episode
DE of massive subperiosteal new bone formation that typically involves
DE the diaphyses of the long bones, mandible, and clavicles. The involved
DE bones may also appear inflamed, with painful swelling and systemic
DE fever often accompanying the illness. The bone changes usually begin
DE before 5 months of age and resolve before 2 years of age.
SY Infantile cortical hyperostosis.
DR MIM; 114000; phenotype.
DR MedGen; C0020497.
DR MedGen; C1861980.
DR MeSH; D006958.
//
ID Calcification of joints and arteries.
AC DI-03016
AR CALJA.
DE A condition characterized by adult-onset calcification of the lower
DE extremity arteries, including the iliac, femoral and tibial arteries,
DE and hand and foot capsule joints. Age of onset has been reported as
DE early as the second decade of life, usually involving intense joint
DE pain or calcification in the hands.
DR MIM; 211800; phenotype.
DR MedGen; C1859372.
DR MeSH; D002114.
//
ID Calvarial doughnut lesions with bone fragility.
AC DI-05600
AR CDL.
DE A rare autosomal dominant bone disease characterized by low bone
DE density, distinctive X-ray translucencies of the skull, multiple
DE fractures, elevated serum alkaline phosphatase, and dental caries.
DE Patients present with childhood onset of primary osteoporosis and
DE typical sclerotic doughnut-shaped lesions in the cranial bones.
SY Doughnut lesions of skull, familial.
DR MIM; 126550; phenotype.
DR MedGen; C1852022.
DR MeSH; D001847.
//
ID Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia.
AC DI-05601
AR CDLSMD.
DE A severe form of calvarial doughnut lesions with bone fragility, a
DE rare autosomal dominant disease characterized by low bone density,
DE distinctive X-ray translucencies of the skull, multiple fractures,
DE elevated serum alkaline phosphatase, and dental caries. CDLSMD
DE patients show neonatal onset of fractures, severe short stature,
DE marked cranial sclerosis, and spondylometaphyseal dysplasia.
DR MIM; 126550; phenotype.
DR MedGen; C1852022.
DR MeSH; D001847.
//
ID Campomelic dysplasia.
AC DI-01311
AR CMD1.
DE A rare, often lethal, osteochondrodysplasia characterized by
DE congenital bowing and angulation of long bones. Other skeletal defects
DE include unusually small scapula, deformed pelvis and spine, and a
DE missing pair of ribs. Craniofacial and ear defects are common. Most
DE patients die soon after birth due to respiratory distress which has
DE been attributed to hypoplasia of the tracheobronchial cartilage and
DE small thoracic cage. Up to two-thirds of affected XY individuals have
DE genital defects or may develop as phenotypic females.
SY Acampomelic campomelic dysplasia.
SY Acampomelic campomelic dysplasia with autosomal sex reversal.
SY Campomelic dysplasia with autosomal sex reversal.
SY Camptomelic dysplasia.
SY CMPD.
SY CMPD1.
SY CMPD1/SRA1.
DR MIM; 114290; phenotype.
DR MedGen; C1842462.
DR MedGen; C1861922.
DR MedGen; C1861923.
DR MedGen; C3549544.
DR MeSH; D055036.
//
ID Camptodactyly, tall stature, and hearing loss syndrome.
AC DI-01312
AR CATSHLS.
DE An autosomal dominant syndrome characterized by permanent and
DE irreducible flexion of one or more fingers of the hand and/or feet,
DE tall stature, scoliosis and/or a pectus excavatum, and hearing loss.
DE Affected individuals have developmental delay and/or intellectual
DE disability, and several of these have microcephaly. Radiographic
DE findings included tall vertebral bodies with irregular borders and
DE broad femoral metaphyses with long tubular shafts. On audiological
DE exam, each tested member have bilateral sensorineural hearing loss and
DE absent otoacoustic emissions. The hearing loss was congenital or
DE developed in early infancy, progressed variably in early childhood,
DE and range from mild to severe. Computed tomography and magnetic
DE resonance imaging reveal that the brain, middle ear, and inner ear are
DE structurally normal.
SY CATSHL syndrome.
DR MIM; 610474; phenotype.
DR MedGen; C1864852.
DR MeSH; D001848.
DR MeSH; D006228.
DR MeSH; D034381.
KW KW-0209:Deafness.
//
ID Camptodactyly-arthropathy-coxa vara-pericarditis syndrome.
AC DI-01313
AR CACP.
DE An autosomal recessive disorder characterized by the association of
DE congenital or early-onset camptodactyly and non-inflammatory
DE arthropathy with synovial hyperplasia. Individuals with CACP have
DE normal appearing joints at birth but with advancing age develop joint
DE failure, non-inflammatory synoviocyte hyperplasia and subintimal
DE fibrosis of the synovial capsule. Some patients also manifest
DE progressive coxa vara deformity and/or non-inflammatory pericardial or
DE pleural effusions.
SY Arthropathy-camptodactyly syndrome.
SY Camptodactyly-arthropathy-pericarditis syndrome.
SY CAP syndrome.
SY Fibrosing serositis, familial.
SY Hypertrophic synovitis, congenital familial.
SY Jacobs syndrome.
SY PAC syndrome.
SY Pericarditis-arthropathy-camptodactyly syndrome.
DR MIM; 208250; phenotype.
DR MedGen; C1859690.
DR MeSH; D001177.
DR MeSH; D006228.
DR MeSH; D013585.
DR MeSH; D060905.
//
ID Camptosynpolydactyly, complex.
AC DI-04787
AR CCSPD.
DE An autosomal recessive disorder characterized by hand and foot
DE deformities consisting of polydactyly with digits arising from the
DE dorsum of hands, syn- and camptodactyly of some fingers, soft tissue
DE syndactyly of first and second toes, and dysplastic nails.
SY Camptopolydactyly, disorganization type.
DR MIM; 607539; phenotype.
DR MedGen; C1843758.
DR MeSH; D005532.
DR MeSH; D006228.
//
ID Camurati-Engelmann disease.
AC DI-01314
AR CAEND.
DE An autosomal dominant disorder characterized by hyperostosis and
DE sclerosis of the diaphyses of long bones. The disease typically
DE presents in early childhood with pain, muscular weakness and waddling
DE gait, and in some cases other features such as exophthalmos, facial
DE paralysis, hearing difficulties and loss of vision.
SY CED.
SY Diaphyseal dysplasia 1, progressive.
SY DPD1.
SY Engelmann disease.
SY PDD.
SY Progressive diaphyseal dysplasia.
DR MIM; 131300; phenotype.
DR MedGen; C0011989.
DR MedGen; C2931842.
DR MeSH; D003966.
//
ID Canavan disease.
AC DI-00208
AR CAND.
DE A rare neurodegenerative condition of infancy or childhood
DE characterized by white matter vacuolization and demyelination that
DE gives rise to a spongy appearance. The clinical features are onset in
DE early infancy, atonia of neck muscles, hypotonia, hyperextension of
DE legs and flexion of arms, blindness, severe mental defect,
DE megalocephaly, and death by 18 months on the average.
SY ACY2 deficiency.
SY Aminoacylase 2 deficiency.
SY ASPA deficiency.
SY Aspartoacylase deficiency.
SY Canavan-van Bogaert-Bertrand disease.
SY Spongy degeneration of central nervous system.
DR MIM; 271900; phenotype.
DR MedGen; C0206307.
DR MedGen; CN068568.
DR MedGen; CN203803.
DR MedGen; CN203804.
DR MeSH; D017825.
KW KW-1026:Leukodystrophy.
//
ID Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma.
AC DI-05518
AR CAPOK.
DE An autosomal recessive genodermatosis characterized by hypo- and
DE hyperpigmented macular skin lesions, progressive alopecia,
DE palmoplantar keratoderma, dystrophic nails, teeth abnormalities and a
DE predisposition to squamous cell carcinoma.
DR MIM; 618373; phenotype.
DR MedGen; CN258269.
DR MeSH; D007039.
DR MeSH; D007645.
DR MeSH; D010859.
KW KW-1007:Palmoplantar keratoderma.
KW KW-1063:Hypotrichosis.
//
ID Candidiasis, familial, 2.
AC DI-02578
AR CANDF2.
DE A primary immunodeficiency disorder with altered immune responses and
DE impaired clearance of fungal infections, selective against Candida. It
DE is characterized by persistent and/or recurrent infections of the
DE skin, nails and mucous membranes caused by organisms of the genus
DE Candida, mainly Candida albicans.
SY CARD9 immunodeficiency.
SY Familial chronic mucocutaneous candidiasis autosomal recessive.
DR MIM; 212050; phenotype.
DR MedGen; C1859353.
DR MeSH; D002178.
//
ID Candidiasis, familial, 4.
AC DI-02808
AR CANDF4.
DE A primary immunodeficiency disorder with altered immune responses and
DE impaired clearance of fungal infections, selective against Candida. It
DE is characterized by persistent and/or recurrent infections of the
DE skin, nails and mucous membranes caused by organisms of the genus
DE Candida, mainly Candida albicans.
SY Candidiasis familial chronic mucocutaneous.
SY Chronic mucocutaneous candidiasis 4.
DR MIM; 613108; phenotype.
DR MedGen; C0341024.
DR MeSH; D002178.
//
ID Candidiasis, familial, 6.
AC DI-03125
AR CANDF6.
DE A primary immunodeficiency disorder with altered immune responses and
DE impaired clearance of fungal infections, selective against Candida. It
DE is characterized by persistent and/or recurrent infections of the
DE skin, nails and mucous membranes caused by organisms of the genus
DE Candida, mainly Candida albicans.
SY Candidiasis familial chronic mucocutaneous autosomal dominant.
SY Chronic mucocutaneous candidiasis 6.
DR MIM; 613956; phenotype.
DR MedGen; C3151405.
DR MeSH; D002178.
//
ID Candidiasis, familial, 8.
AC DI-03950
AR CANDF8.
DE A primary immunodeficiency disorder with altered immune responses and
DE impaired clearance of fungal infections, selective against Candida. It
DE is characterized by persistent and/or recurrent infections of the
DE skin, nails and mucous membranes caused by organisms of the genus
DE Candida, mainly Candida albicans.
SY Candidiasis familial chronic mucocutaneous autosomal recessive.
DR MIM; 615527; phenotype.
DR MedGen; C3714992.
DR MedGen; CN181495.
DR MeSH; D002178.
//
ID Candidiasis, familial, 9.
AC DI-04473
AR CANDF9.
DE A disorder characterized by altered immune responses and impaired
DE clearance of fungal infections, selective against Candida. It is
DE characterized by persistent and/or recurrent infections of the skin,
DE nails and mucous membranes caused by organisms of the genus Candida,
DE mainly Candida albicans.
DR MIM; 616445; phenotype.
DR MedGen; CN231436.
DR MeSH; D002178.
//
ID Cap myopathy 1.
AC DI-03838
AR CAPM1.
DE A rare congenital skeletal muscle disorder characterized by the
DE presence of cap-like structures which are well demarcated and
DE peripherally located under the sarcolemma and show abnormal
DE accumulation of sarcomeric proteins. Clinical features are early onset
DE of hypotonia and slowly progressive muscle weakness. Respiratory
DE problems are common.
SY Cap disease.
SY Cap myopathy TPM3-related.
DR MIM; 609284; phenotype.
DR MedGen; C2750414.
DR MedGen; CN178536.
DR MeSH; D017696.
KW KW-1057:Nemaline myopathy.
//
ID Cap myopathy 2.
AC DI-03839
AR CAPM2.
DE A rare congenital skeletal muscle disorder characterized by the
DE presence of cap-like structures which are well demarcated and
DE peripherally located under the sarcolemma and show abnormal
DE accumulation of sarcomeric proteins. Clinical features are early onset
DE of hypotonia and non-progressive or slowly progressive muscle
DE weakness. Respiratory problems are common.
SY Cap disease.
SY Cap myopathy TPM2-related.
DR MIM; 609285; phenotype.
DR MedGen; C2750413.
DR MedGen; CN178537.
DR MeSH; D017696.
KW KW-1057:Nemaline myopathy.
//
ID Capillary malformation-arteriovenous malformation 1.
AC DI-01315
AR CMAVM1.
DE A disorder characterized by atypical capillary malformations that are
DE multiple, small, round to oval in shape and pinkish red in color.
DE These capillary malformations are associated with either arteriovenous
DE malformation, arteriovenous fistula, or Parkes Weber syndrome. CMAVM1
DE inheritance is autosomal dominant.
DR MIM; 608354; phenotype.
DR MedGen; C1842180.
DR MedGen; C2675370.
DR MeSH; D054079.
//
ID Capillary malformation-arteriovenous malformation 2.
AC DI-05392
AR CMAVM2.
DE An autosomal dominant disorder characterized by multiple, round to
DE oval or more irregularly shaped macules that are pinkish red in color
DE and are randomly distributed across the body. These capillary
DE malformations are associated with either arteriovenous malformation,
DE arteriovenous fistula, or Parkes Weber syndrome.
DR MIM; 618196; phenotype.
DR MedGen; CN257482.
DR MeSH; D054079.
//
ID Capillary malformations, congenital.
AC DI-03786
AR CMC.
DE A form of vascular malformations that are present from birth, tend to
DE grow with the individual, do not regress spontaneously, and show
DE normal rates of endothelial cell turnover. Capillary malformations are
DE distinct from capillary hemangiomas, which are highly proliferative
DE lesions that appear shortly after birth and show rapid growth, slow
DE involution, and endothelial hypercellularity.
SY Capillary malformations.
SY CMAL.
SY Familial multiple nevi flammei.
SY Hereditary capillary malformations.
SY Port-wine stain.
DR MIM; 163000; phenotype.
DR MedGen; C0235752.
DR MedGen; C0340803.
DR MedGen; C2931029.
DR MeSH; D054079.
//
ID Carbamoyl phosphate synthetase 1 deficiency.
AC DI-00209
AR CPS1D.
DE An autosomal recessive disorder of the urea cycle causing
DE hyperammonemia. It can present as a devastating metabolic disease
DE dominated by severe hyperammonemia in neonates or as a more insidious
DE late-onset condition, generally manifesting as life-threatening
DE hyperammonemic crises under catabolic situations. Clinical features
DE include protein intolerance, intermittent ataxia, seizures, lethargy,
DE developmental delay and intellectual disability.
SY Carbamoyl phosphate synthetase I deficiency.
SY CPS I deficiency.
SY Hyperammonemia due to carbamoyl phosphate synthetase I deficiency.
DR MIM; 237300; phenotype.
DR MedGen; C0751753.
DR MeSH; D020165.
//
ID Carboxypeptidase N deficiency.
AC DI-01316
AR CPND.
DE Patients affected present some combination of angioedema or chronic
DE urticaria, as well as hay fever or asthma, and have also slightly
DE depressed serum carboxy peptidase N, suggestive of autosomal recessive
DE inheritance of this disorder.
DR MIM; 212070; phenotype.
DR MedGen; C0398782.
//
ID Cardiac conduction disease with or without dilated cardiomyopathy.
AC DI-04282
AR CCDD.
DE A cardiac disorder characterized by atrial tachyarrhythmia and
DE conduction system disease. Some patients have dilated cardiomyopathy.
DR MIM; 616117; phenotype.
DR MedGen; CN221670.
DR MeSH; D001145.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiac valvular defect, developmental.
AC DI-05005
AR CVDD.
DE An autosomal recessive form of congenital heart defects, characterized
DE by valvular malformations involving the pulmonic, tricuspid and mitral
DE valves.
DR MIM; 212093; phenotype.
DR MedGen; C1859330.
DR MeSH; D006349.
//
ID Cardiac valvular dysplasia, X-linked.
AC DI-02915
AR CVD1.
DE A rare X-linked heart disease characterized by mitral and/or aortic
DE valve regurgitation. The histologic features include fragmentation of
DE collagenous bundles within the valve fibrosa and accumulation of
DE proteoglycans, which produces excessive valve tissue leading to
DE billowing of the valve leaflets.
SY Congenital valvular dysplasia.
SY Congenital valvular heart disease.
SY CVDX.
SY X-linked myxomatous valvular dystrophy.
SY XMVD.
DR MIM; 314400; phenotype.
DR MedGen; C0262436.
DR MeSH; D006349.
//
ID Cardiac, facial, and digital anomalies with developmental delay.
AC DI-05370
AR CAFDADD.
DE An autosomal dominant disorder characterized by delayed motor and
DE speech development, developmental regression, congenital heart
DE defects, limb and digital anomalies, and dysmorphic features. Cardiac
DE features include pulmonary stenosis, patent ductus arteriosus, aortic
DE coarctation, valvular defects, hypoplastic left heart, double outlet
DE right ventricle, and conduction abnormalities. Dysmorphic facial
DE features include multiple hair whorls or hairline abnormalities,
DE ptosis, epicanthal folds, and low-set or dysplastic ears.
DR MIM; 618164; phenotype.
DR MedGen; CN257756.
DR MeSH; D000015.
//
ID Cardiac-urogenital syndrome.
AC DI-05461
AR CUGS.
DE An autosomal dominant syndrome characterized by partial anomalous
DE pulmonary venous return, tracheal anomalies, pulmonary hypoplasia,
DE congenital diaphragmatic hernia, thyroid fibrosis, thymic involution,
DE cleft spleen, penoscrotal hypospadias, and cryptorchidism.
DR MIM; 618280; phenotype.
DR MedGen; CN258099.
DR MeSH; D012587.
DR MeSH; D014564.
//
ID Cardioacrofacial dysplasia 1.
AC DI-05997
AR CAFD1.
DE An autosomal dominant disease characterized by dysmorphic facial
DE features, congenital cardiac defects, primarily common atrium or
DE atrioventricular septal defect, and limb anomalies, including short
DE limbs, brachydactyly and postaxial polydactyly.
DR MIM; 619142; phenotype.
DR MedGen; CN293613.
DR MeSH; D006330.
DR MeSH; D017880.
//
ID Cardioacrofacial dysplasia 2.
AC DI-05998
AR CAFD2.
DE An autosomal dominant disease characterized by dysmorphic facial
DE features, congenital cardiac defects, primarily common atrium or
DE atrioventricular septal defect, and limb anomalies, including short
DE limbs, brachydactyly and postaxial polydactyly. CAFD2 patients may
DE show developmental delay of variable severity, intellectual
DE disability, autistic features and focal seizures.
DR MIM; 619143; phenotype.
DR MedGen; CN293614.
DR MeSH; D006330.
DR MeSH; D017880.
//
ID Cardiofaciocutaneous syndrome 1.
AC DI-01318
AR CFC1.
DE A multiple congenital anomaly disorder characterized by a distinctive
DE facial appearance, heart defects and intellectual disability. Heart
DE defects include pulmonic stenosis, atrial septal defects and
DE hypertrophic cardiomyopathy. Some affected individuals present with
DE ectodermal abnormalities such as sparse, friable hair, hyperkeratotic
DE skin lesions and a generalized ichthyosis-like condition. Typical
DE facial features are similar to Noonan syndrome. They include high
DE forehead with bitemporal constriction, hypoplastic supraorbital
DE ridges, downslanting palpebral fissures, a depressed nasal bridge, and
DE posteriorly angulated ears with prominent helices.
SY Cardio-facio-cutaneous syndrome.
SY CFCS.
SY CFC syndrome.
DR MIM; 115150; phenotype.
DR MedGen; C1275081.
DR MeSH; D004476.
DR MeSH; D006330.
KW KW-0038:Ectodermal dysplasia.
KW KW-0122:Cardiomyopathy.
KW KW-0991:Intellectual disability.
//
ID Cardiofaciocutaneous syndrome 2.
AC DI-03779
AR CFC2.
DE A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly
DE disorder characterized by a distinctive facial appearance, heart
DE defects and intellectual disability. Heart defects include pulmonic
DE stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some
DE affected individuals present with ectodermal abnormalities such as
DE sparse, friable hair, hyperkeratotic skin lesions and a generalized
DE ichthyosis-like condition. Typical facial features are similar to
DE Noonan syndrome. They include high forehead with bitemporal
DE constriction, hypoplastic supraorbital ridges, downslanting palpebral
DE fissures, a depressed nasal bridge, and posteriorly angulated ears
DE with prominent helices. CFC2 patients often do not have the skin
DE abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma
DE observed in CFC1.
DR MIM; 615278; phenotype.
DR MedGen; C3809005.
DR MedGen; CN176912.
DR MeSH; D004476.
DR MeSH; D006330.
KW KW-0038:Ectodermal dysplasia.
KW KW-0122:Cardiomyopathy.
KW KW-0991:Intellectual disability.
//
ID Cardiofaciocutaneous syndrome 3.
AC DI-03780
AR CFC3.
DE A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly
DE disorder characterized by a distinctive facial appearance, heart
DE defects and intellectual disability. Heart defects include pulmonic
DE stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some
DE affected individuals present with ectodermal abnormalities such as
DE sparse, friable hair, hyperkeratotic skin lesions and a generalized
DE ichthyosis-like condition. Typical facial features are similar to
DE Noonan syndrome. They include high forehead with bitemporal
DE constriction, hypoplastic supraorbital ridges, downslanting palpebral
DE fissures, a depressed nasal bridge, and posteriorly angulated ears
DE with prominent helices. Distinctive features of CFC3 include
DE macrostomia and horizontal shape of palpebral fissures.
DR MIM; 615279; phenotype.
DR MedGen; C3809006.
DR MedGen; CN176913.
DR MeSH; D004476.
DR MeSH; D006330.
KW KW-0038:Ectodermal dysplasia.
KW KW-0122:Cardiomyopathy.
KW KW-0991:Intellectual disability.
//
ID Cardiofaciocutaneous syndrome 4.
AC DI-03781
AR CFC4.
DE A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly
DE disorder characterized by a distinctive facial appearance, heart
DE defects and intellectual disability. Heart defects include pulmonic
DE stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some
DE affected individuals present with ectodermal abnormalities such as
DE sparse, friable hair, hyperkeratotic skin lesions and a generalized
DE ichthyosis-like condition. Typical facial features are similar to
DE Noonan syndrome. They include high forehead with bitemporal
DE constriction, hypoplastic supraorbital ridges, downslanting palpebral
DE fissures, a depressed nasal bridge, and posteriorly angulated ears
DE with prominent helices.
DR MIM; 615280; phenotype.
DR MedGen; C3809007.
DR MedGen; CN176914.
DR MeSH; D004476.
DR MeSH; D006330.
KW KW-0038:Ectodermal dysplasia.
KW KW-0122:Cardiomyopathy.
KW KW-0991:Intellectual disability.
//
ID Cardiofacioneurodevelopmental syndrome.
AC DI-05989
AR CFNDS.
DE An autosomal recessive disorder characterized by global developmental
DE delay, feeding difficulties, microcephaly and dysmorphic features.
DE Additional features include cleft lip, cleft palate, variable cardiac
DE defects, and abdominal situs inversus with asplenia. Brain imaging
DE reveals cerebellar hypoplasia.
DR MIM; 619123; phenotype.
DR MedGen; CN293580.
DR MeSH; D000015.
KW KW-1186:Ciliopathy.
//
ID Cardiomyopathy, dilated 1A.
AC DI-00210
AR CMD1A.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death.
SY Cardiomyopathy dilated with conduction defect 1.
SY CDCD1.
DR MIM; 115200; phenotype.
DR MedGen; C1449563.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 1AA, with or without left ventricular non-compaction.
AC DI-00211
AR CMD1AA.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death.
DR MIM; 612158; phenotype.
DR MedGen; C2677338.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 1BB.
AC DI-02483
AR CMD1BB.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death.
DR MIM; 612877; phenotype.
DR MedGen; C2752072.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 1C, with or without left ventricular non-compaction.
AC DI-00212
AR CMD1C.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death. Cardiomyopathy dilated type
DE 1C is associated with left ventricular non-compaction in some
DE patients. Left ventricular non-compaction is characterized by numerous
DE prominent trabeculations and deep intertrabecular recesses in
DE hypertrophied and hypokinetic segments of the left ventricle.
SY Cardiomyopathy dilated with left ventricular noncompaction.
DR MIM; 601493; phenotype.
DR MedGen; C1832244.
DR MedGen; C1853863.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 1CC.
AC DI-02530
AR CMD1CC.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death.
DR MIM; 613122; phenotype.
DR MedGen; C2751084.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 1D.
AC DI-00213
AR CMD1D.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death.
DR MIM; 601494; phenotype.
DR MedGen; C1832243.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 1DD.
AC DI-02568
AR CMD1DD.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death.
DR MIM; 613172; phenotype.
DR MedGen; C2750995.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 1E.
AC DI-00214
AR CMD1E.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death.
SY CDCD2.
SY Dilated cardiomyopathy with conduction defect 2.
SY Dilated cardiomyopathy with conduction disorder and arrhythmia.
DR MIM; 601154; phenotype.
DR MedGen; C1832680.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 1EE.
AC DI-02682
AR CMD1EE.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death.
DR MIM; 613252; phenotype.
DR MedGen; C2750466.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 1FF.
AC DI-02681
AR CMD1FF.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death.
DR MIM; 613286; phenotype.
DR MedGen; C2750091.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 1G.
AC DI-00215
AR CMD1G.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death.
DR MIM; 604145; phenotype.
DR MedGen; C1858763.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 1GG.
AC DI-02945
AR CMD1GG.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death.
DR MIM; 613642; phenotype.
DR MedGen; C3150898.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 1HH.
AC DI-03042
AR CMD1HH.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death.
DR MIM; 613881; phenotype.
DR MedGen; C3151293.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 1I.
AC DI-00216
AR CMD1I.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death.
DR MIM; 604765; phenotype.
DR MedGen; C1858154.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 1II.
AC DI-03750
AR CMD1II.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death.
DR MIM; 615184; phenotype.
DR MedGen; C3554649.
DR MedGen; CN168962.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 1J.
AC DI-00217
AR CMD1J.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death. CMD1J is characterized by the
DE association of sensorineural hearing loss and dilated cardiomyopathy
DE in the absence of other anomalies.
SY Cardiomyopathy dilated with sensorineural hearing loss autosomal dominant.
DR MIM; 605362; phenotype.
DR MedGen; C1854368.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 1JJ.
AC DI-03729
AR CMD1JJ.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death.
DR MIM; 615235; phenotype.
DR MedGen; C3808935.
DR MedGen; CN169679.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 1KK.
AC DI-03730
AR CMD1KK.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death.
DR MIM; 615248; phenotype.
DR MedGen; C3714995.
DR MedGen; CN169881.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 1L.
AC DI-00218
AR CMD1L.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death.
DR MIM; 606685; phenotype.
DR MedGen; C1847667.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 1LL.
AC DI-03860
AR CMD1LL.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death.
DR MIM; 615373; phenotype.
DR MedGen; C3809289.
DR MedGen; CN178850.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 1M.
AC DI-00219
AR CMD1M.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death.
DR MIM; 607482; phenotype.
DR MedGen; C1843808.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 1MM.
AC DI-03872
AR CMD1MM.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death.
DR MIM; 615396; phenotype.
DR MedGen; C3809346.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 1NN.
AC DI-04172
AR CMD1NN.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death.
DR MIM; 615916; phenotype.
DR MedGen; CN219641.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 1O.
AC DI-00221
AR CMD1O.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death.
SY Dilated cardiomyopathy with ventricular tachycardia.
DR MIM; 608569; phenotype.
DR MedGen; C1837839.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 1P.
AC DI-00222
AR CMD1P.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death.
DR MIM; 609909; phenotype.
DR MedGen; C1835928.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 1R.
AC DI-00223
AR CMD1R.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death.
DR MIM; 613424; phenotype.
DR MedGen; C3150681.
DR MedGen; C3150682.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 1S.
AC DI-00224
AR CMD1S.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death.
DR MIM; 613426; phenotype.
DR MedGen; C1834481.
DR MedGen; C3150690.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 1U.
AC DI-02967
AR CMD1U.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death.
DR MIM; 613694; phenotype.
DR MedGen; C3160720.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 1V.
AC DI-02968
AR CMD1V.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death.
DR MIM; 613697; phenotype.
DR MedGen; C3150958.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 1W.
AC DI-00225
AR CMD1W.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death.
DR MIM; 611407; phenotype.
DR MedGen; C1969639.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 1X.
AC DI-00227
AR CMD1X.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death.
SY Dilated cardiomyopathy with mild or no proximal muscle weakness.
DR MIM; 611615; phenotype.
DR MedGen; C1969024.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 1Y.
AC DI-00226
AR CMD1Y.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death.
DR MIM; 611878; phenotype.
DR MedGen; C2678476.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 1Z.
AC DI-00228
AR CMD1Z.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death.
DR MIM; 611879; phenotype.
DR MedGen; C2678475.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 2A.
AC DI-00229
AR CMD2A.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death.
DR MIM; 611880; phenotype.
DR MedGen; C2678474.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 2B.
AC DI-03469
AR CMD2B.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death.
DR MIM; 614672; phenotype.
DR MedGen; C3553409.
DR MedGen; CN128710.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 2C.
AC DI-05389
AR CMD2C.
DE A form of dilated cardiomyopathy, a disorder characterized by
DE ventricular dilation and impaired systolic function, resulting in
DE congestive heart failure and arrhythmia. Patients are at risk of
DE premature death. CMD2C is an autosomal recessive form with variable
DE severity and age of onset ranging from 2 to 20 years. Death in infancy
DE or early childhood may occur in severely affected children.
DR MIM; 618189; phenotype.
DR MedGen; CN257789.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 2D.
AC DI-06135
AR CMD2D.
DE A form of dilated cardiomyopathy, a disorder characterized by
DE ventricular dilation and impaired systolic function, resulting in
DE congestive heart failure and arrhythmia. Patients are at risk of
DE premature death. CMD2D is an autosomal recessive, severe form with
DE neonatal onset.
DR MIM; 619371; phenotype.
DR MedGen; CN296941.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 2E.
AC DI-06212
AR CMD2E.
DE A form of dilated cardiomyopathy, a disorder characterized by
DE ventricular dilation and impaired systolic function, resulting in
DE congestive heart failure and arrhythmia. Patients are at risk of
DE premature death. CMD2E is an autosomal recessive form with neonatal or
DE early childhood onset and rapid progression to cardiac failure.
DR MIM; 619492; phenotype.
DR MedGen; CN301152.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated 2F.
AC DI-06345
AR CMD2F.
DE A form of dilated cardiomyopathy, a disorder characterized by
DE ventricular dilation and impaired systolic function, resulting in
DE congestive heart failure and arrhythmia. Patients are at risk of
DE premature death. CMD2F is an autosomal recessive, early-onset form.
DR MIM; 619747; phenotype.
DR MedGen; CN306446.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated, with hypergonadotropic hypogonadism.
AC DI-02906
AR CMDHH.
DE A disorder characterized by the association of genital anomalies,
DE hypergonadotropic hypogonadism and dilated cardiomyopathy. Patients
DE can present other variable clinical manifestations including
DE intellectual disability, skeletal anomalies, scleroderma-like skin,
DE graying and thinning of hair, osteoporosis. Dilated cardiomyopathy is
DE characterized by ventricular dilation and impaired systolic function,
DE resulting in congestive heart failure and arrhythmia.
SY Cardiogenital syndrome.
SY Cardiomyopathy congestive with hypergonadotropic hypogonadism.
SY Cardiomyopathy dilated with premature ovarian failure.
SY Cardiomyopathy with primary testicular failure.
SY Genital anomaly with cardiomyopathy.
SY Malouf syndrome.
SY Najjar syndrome.
DR MIM; 212112; phenotype.
DR MedGen; C0796031.
DR MedGen; C0796083.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, dilated, with woolly hair and keratoderma.
AC DI-00230
AR DCWHK.
DE An autosomal recessive cardiocutaneous syndrome characterized by a
DE generalized striate keratoderma particularly affecting the
DE palmoplantar epidermis, woolly hair, and dilated left ventricular
DE cardiomyopathy.
SY Carvajal syndrome.
SY Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair.
DR MIM; 605676; phenotype.
DR MedGen; C1854063.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
KW KW-1007:Palmoplantar keratoderma.
//
ID Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis.
AC DI-04267
AR DCWHKTA.
DE A cardiocutaneous syndrome characterized by biventricular dilated
DE cardiomyopathy, hyperkeratosis, woolly hair, palmoplantar keratoderma,
DE and hypo/oligodontia.
DR MIM; 615821; phenotype.
DR MedGen; CN221269.
DR MeSH; D000848.
DR MeSH; D002311.
DR MeSH; D006201.
DR MeSH; D007645.
KW KW-0122:Cardiomyopathy.
KW KW-1007:Palmoplantar keratoderma.
//
ID Cardiomyopathy, dilated, X-linked 3B.
AC DI-00231
AR CMD3B.
DE A disorder characterized by ventricular dilation and impaired systolic
DE function, resulting in congestive heart failure and arrhythmia.
DE Patients are at risk of premature death.
SY XLCM.
SY X-linked dilated cardiomyopathy.
DR MIM; 302045; phenotype.
DR MedGen; C3714570.
DR MedGen; CN128796.
DR MeSH; D002311.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, familial hypertrophic.
AC DI-00232
AR CMH.
DE A hereditary heart disorder characterized by ventricular hypertrophy,
DE which is usually asymmetric and often involves the interventricular
DE septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE and chest pain. They can be readily provoked by exercise. The disorder
DE has inter- and intrafamilial variability ranging from benign to
DE malignant forms with high risk of cardiac failure and sudden cardiac
DE death.
SY ASH.
SY Asymmetric septal hypertrophy.
SY Familial hypertrophic cardiomyopathy.
SY FHC.
SY HCM.
SY Hypertrophic cardiomyopathy.
SY Hypertrophic subaortic stenosis, idiopathic.
SY Ventricular hypertrophy, hereditary.
DR MIM; 192600; phenotype.
DR MedGen; C0205700.
DR MedGen; C0597124.
DR MedGen; C0700053.
DR MeSH; D024741.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, familial hypertrophic 1.
AC DI-00233
AR CMH1.
DE A hereditary heart disorder characterized by ventricular hypertrophy,
DE which is usually asymmetric and often involves the interventricular
DE septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE and chest pain. They can be readily provoked by exercise. The disorder
DE has inter- and intrafamilial variability ranging from benign to
DE malignant forms with high risk of cardiac failure and sudden cardiac
DE death.
DR MIM; 192600; phenotype.
DR MedGen; C3495498.
DR MedGen; CN030093.
DR MeSH; D024741.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, familial hypertrophic 10.
AC DI-00240
AR CMH10.
DE A hereditary heart disorder characterized by ventricular hypertrophy,
DE which is usually asymmetric and often involves the interventricular
DE septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE and chest pain. They can be readily provoked by exercise. The disorder
DE has inter- and intrafamilial variability ranging from benign to
DE malignant forms with high risk of cardiac failure and sudden cardiac
DE death. Rarely, patients present a variant of familial hypertrophic
DE cardiomyopathy, characterized by mid-left ventricular chamber
DE thickening.
SY Familial hypertrophic cardiomyopathy with mid-left ventricular chamber type 2.
SY MVC2.
DR MIM; 608758; phenotype.
DR MedGen; C1834460.
DR MeSH; D024741.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, familial hypertrophic 11.
AC DI-00241
AR CMH11.
DE A hereditary heart disorder characterized by ventricular hypertrophy,
DE which is usually asymmetric and often involves the interventricular
DE septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE and chest pain. They can be readily provoked by exercise. The disorder
DE has inter- and intrafamilial variability ranging from benign to
DE malignant forms with high risk of cardiac failure and sudden cardiac
DE death.
DR MIM; 612098; phenotype.
DR MedGen; C2677506.
DR MeSH; D024741.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, familial hypertrophic 12.
AC DI-00242
AR CMH12.
DE A hereditary heart disorder characterized by ventricular hypertrophy,
DE which is usually asymmetric and often involves the interventricular
DE septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE and chest pain. They can be readily provoked by exercise. The disorder
DE has inter- and intrafamilial variability ranging from benign to
DE malignant forms with high risk of cardiac failure and sudden cardiac
DE death.
DR MIM; 612124; phenotype.
DR MedGen; CN029460.
DR MeSH; D024741.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, familial hypertrophic 13.
AC DI-02553
AR CMH13.
DE A hereditary heart disorder characterized by ventricular hypertrophy,
DE which is usually asymmetric and often involves the interventricular
DE septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE and chest pain. They can be readily provoked by exercise. The disorder
DE has inter- and intrafamilial variability ranging from benign to
DE malignant forms with high risk of cardiac failure and sudden cardiac
DE death.
DR MIM; 613243; phenotype.
DR MedGen; C2750472.
DR MeSH; D024741.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, familial hypertrophic 14.
AC DI-02680
AR CMH14.
DE A hereditary heart disorder characterized by ventricular hypertrophy,
DE which is usually asymmetric and often involves the interventricular
DE septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE and chest pain. They can be readily provoked by exercise. The disorder
DE has inter- and intrafamilial variability ranging from benign to
DE malignant forms with high risk of cardiac failure and sudden cardiac
DE death.
DR MIM; 613251; phenotype.
DR MedGen; C2750467.
DR MeSH; D024741.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, familial hypertrophic 15.
AC DI-02679
AR CMH15.
DE A hereditary heart disorder characterized by ventricular hypertrophy,
DE which is usually asymmetric and often involves the interventricular
DE septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE and chest pain. They can be readily provoked by exercise. The disorder
DE has inter- and intrafamilial variability ranging from benign to
DE malignant forms with high risk of cardiac failure and sudden cardiac
DE death.
DR MIM; 613255; phenotype.
DR MedGen; C2750459.
DR MeSH; D024741.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, familial hypertrophic 16.
AC DI-03037
AR CMH16.
DE A hereditary heart disorder characterized by ventricular hypertrophy,
DE which is usually asymmetric and often involves the interventricular
DE septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE and chest pain. They can be readily provoked by exercise. The disorder
DE has inter- and intrafamilial variability ranging from benign to
DE malignant forms with high risk of cardiac failure and sudden cardiac
DE death.
DR MIM; 613838; phenotype.
DR MedGen; C3151204.
DR MeSH; D024741.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, familial hypertrophic 17.
AC DI-03038
AR CMH17.
DE A hereditary heart disorder characterized by ventricular hypertrophy,
DE which is usually asymmetric and often involves the interventricular
DE septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE and chest pain. They can be readily provoked by exercise. The disorder
DE has inter- and intrafamilial variability ranging from benign to
DE malignant forms with high risk of cardiac failure and sudden cardiac
DE death.
DR MIM; 613873; phenotype.
DR MedGen; C3151264.
DR MeSH; D024741.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, familial hypertrophic 18.
AC DI-03039
AR CMH18.
DE A hereditary heart disorder characterized by ventricular hypertrophy,
DE which is usually asymmetric and often involves the interventricular
DE septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE and chest pain. They can be readily provoked by exercise. The disorder
DE has inter- and intrafamilial variability ranging from benign to
DE malignant forms with high risk of cardiac failure and sudden cardiac
DE death.
DR MIM; 613874; phenotype.
DR MedGen; C3151265.
DR MeSH; D024741.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, familial hypertrophic 2.
AC DI-00234
AR CMH2.
DE A hereditary heart disorder characterized by ventricular hypertrophy,
DE which is usually asymmetric and often involves the interventricular
DE septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE and chest pain. They can be readily provoked by exercise. The disorder
DE has inter- and intrafamilial variability ranging from benign to
DE malignant forms with high risk of cardiac failure and sudden cardiac
DE death.
DR MIM; 115195; phenotype.
DR MedGen; C1861864.
DR MeSH; D024741.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, familial hypertrophic 20.
AC DI-03041
AR CMH20.
DE A hereditary heart disorder characterized by ventricular hypertrophy,
DE which is usually asymmetric and often involves the interventricular
DE septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE and chest pain. They can be readily provoked by exercise. The disorder
DE has inter- and intrafamilial variability ranging from benign to
DE malignant forms with high risk of cardiac failure and sudden cardiac
DE death.
DR MIM; 613876; phenotype.
DR MedGen; C3151267.
DR MeSH; D024741.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, familial hypertrophic 22.
AC DI-03731
AR CMH22.
DE A hereditary heart disorder characterized by ventricular hypertrophy,
DE which is usually asymmetric and often involves the interventricular
DE septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE and chest pain. They can be readily provoked by exercise. The disorder
DE has inter- and intrafamilial variability ranging from benign to
DE malignant forms with high risk of cardiac failure and sudden cardiac
DE death.
DR MIM; 615248; phenotype.
DR MedGen; C3714998.
DR MedGen; CN169882.
DR MeSH; D024741.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction.
AC DI-04440
AR CMH23.
DE A hereditary heart disorder characterized by ventricular hypertrophy,
DE which is usually asymmetric and often involves the interventricular
DE septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE and chest pain. They can be readily provoked by exercise. The disorder
DE has inter- and intrafamilial variability ranging from benign to
DE malignant forms with high risk of cardiac failure and sudden cardiac
DE death.
SY Cardiomyopathy, familial hypertrophic 23, with or without LVNC.
DR MIM; 612158; phenotype.
DR MedGen; C2677338.
DR MeSH; D024741.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, familial hypertrophic 24.
AC DI-04407
AR CMH24.
DE A hereditary heart disorder characterized by ventricular hypertrophy,
DE which is usually asymmetric and often involves the interventricular
DE septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE and chest pain. They can be readily provoked by exercise. The disorder
DE has inter- and intrafamilial variability ranging from benign to
DE malignant forms with high risk of cardiac failure and sudden cardiac
DE death.
DR MIM; 601493; phenotype.
DR MedGen; CN229629.
DR MeSH; D024741.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, familial hypertrophic 25.
AC DI-00220
AR CMH25.
DE A hereditary heart disorder characterized by ventricular hypertrophy,
DE which is usually asymmetric and often involves the interventricular
DE septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE and chest pain. They can be readily provoked by exercise. The disorder
DE has inter- and intrafamilial variability ranging from benign to
DE malignant forms with high risk of cardiac failure and sudden cardiac
DE death.
DR MIM; 607487; phenotype.
DR MedGen; C1843791.
DR MeSH; D024741.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, familial hypertrophic 26.
AC DI-04771
AR CMH26.
DE A hereditary heart disorder characterized by ventricular hypertrophy,
DE which is usually asymmetric and often involves the interventricular
DE septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE and chest pain. They can be readily provoked by exercise. The disorder
DE has inter- and intrafamilial variability ranging from benign to
DE malignant forms with high risk of cardiac failure and sudden cardiac
DE death.
DR MIM; 617047; phenotype.
DR MedGen; CN237810.
DR MeSH; D024741.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, familial hypertrophic 27.
AC DI-05290
AR CMH27.
DE A form of hypertrophic cardiomyopathy, a heart disorder characterized
DE by ventricular hypertrophy, which is usually asymmetric and often
DE involves the interventricular septum. The symptoms include dyspnea,
DE syncope, collapse, palpitations, and chest pain. They can be readily
DE provoked by exercise. The disorder has inter- and intrafamilial
DE variability ranging from benign to malignant forms with high risk of
DE cardiac failure and sudden cardiac death. CMH27 is a severe, early-
DE onset form with features of hypertrophic and dilated cardiomyopathy.
DR MIM; 618052; phenotype.
DR MedGen; CN252335.
DR MeSH; D024741.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, familial hypertrophic 28.
AC DI-06150
AR CMH28.
DE A form of hypertrophic cardiomyopathy, a heart disorder characterized
DE by ventricular hypertrophy, which is usually asymmetric and often
DE involves the interventricular septum. The symptoms include dyspnea,
DE syncope, collapse, palpitations, and chest pain. They can be readily
DE provoked by exercise. The disorder has inter- and intrafamilial
DE variability ranging from benign to malignant forms with high risk of
DE cardiac failure and sudden cardiac death. CMH28 is an autosomal
DE dominant form with incomplete penetrance.
DR MIM; 619402; phenotype.
DR MedGen; CN299210.
DR MeSH; D024741.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, familial hypertrophic 3.
AC DI-00235
AR CMH3.
DE A hereditary heart disorder characterized by ventricular hypertrophy,
DE which is usually asymmetric and often involves the interventricular
DE septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE and chest pain. They can be readily provoked by exercise. The disorder
DE has inter- and intrafamilial variability ranging from benign to
DE malignant forms with high risk of cardiac failure and sudden cardiac
DE death.
DR MIM; 115196; phenotype.
DR MedGen; C1861863.
DR MeSH; D024741.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, familial hypertrophic 4.
AC DI-00236
AR CMH4.
DE A hereditary heart disorder characterized by ventricular hypertrophy,
DE which is usually asymmetric and often involves the interventricular
DE septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE and chest pain. They can be readily provoked by exercise. The disorder
DE has inter- and intrafamilial variability ranging from benign to
DE malignant forms with high risk of cardiac failure and sudden cardiac
DE death.
DR MIM; 115197; phenotype.
DR MedGen; C1861862.
DR MedGen; C2751427.
DR MeSH; D024741.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, familial hypertrophic 6.
AC DI-00245
AR CMH6.
DE A hereditary heart disorder characterized by ventricular hypertrophy,
DE which is usually asymmetric and often involves the interventricular
DE septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE and chest pain. They can be readily provoked by exercise. The disorder
DE has inter- and intrafamilial variability ranging from benign to
DE malignant forms with high risk of cardiac failure and sudden cardiac
DE death. CMH6 patients present Wolff-Parkinson-White ventricular
DE preexcitation, enlarged myocytes without myofiber disarray, and
DE glycogen-containing cytosolic vacuoles within cardiomyocytes.
SY Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome.
DR MIM; 600858; phenotype.
DR MedGen; C1833236.
DR MeSH; D024741.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, familial hypertrophic 7.
AC DI-00237
AR CMH7.
DE A hereditary heart disorder characterized by ventricular hypertrophy,
DE which is usually asymmetric and often involves the interventricular
DE septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE and chest pain. They can be readily provoked by exercise. The disorder
DE has inter- and intrafamilial variability ranging from benign to
DE malignant forms with high risk of cardiac failure and sudden cardiac
DE death.
DR MIM; 613690; phenotype.
DR MedGen; CN069699.
DR MeSH; D024741.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, familial hypertrophic 8.
AC DI-00238
AR CMH8.
DE A hereditary heart disorder characterized by ventricular hypertrophy,
DE which is usually asymmetric and often involves the interventricular
DE septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE and chest pain. They can be readily provoked by exercise. The disorder
DE has inter- and intrafamilial variability ranging from benign to
DE malignant forms with high risk of cardiac failure and sudden cardiac
DE death. Rarely, patients present a variant of familial hypertrophic
DE cardiomyopathy, characterized by mid-left ventricular chamber
DE thickening.
SY Familial hypertrophic cardiomyopathy with mid-left ventricular chamber type 1.
SY MVC1.
DR MIM; 608751; phenotype.
DR MedGen; C1837471.
DR MeSH; D024741.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, familial hypertrophic 9.
AC DI-00239
AR CMH9.
DE A hereditary heart disorder characterized by ventricular hypertrophy,
DE which is usually asymmetric and often involves the interventricular
DE septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE and chest pain. They can be readily provoked by exercise. The disorder
DE has inter- and intrafamilial variability ranging from benign to
DE malignant forms with high risk of cardiac failure and sudden cardiac
DE death.
DR MIM; 613765; phenotype.
DR MedGen; C1861065.
DR MeSH; D024741.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, familial restrictive 1.
AC DI-00246
AR RCM1.
DE A heart disorder characterized by impaired filling of the ventricles
DE with reduced diastolic volume, in the presence of normal or near
DE normal wall thickness and systolic function.
DR MIM; 115210; phenotype.
DR MedGen; C1861861.
DR MeSH; D002313.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, familial restrictive 3.
AC DI-00247
AR RCM3.
DE A heart disorder characterized by impaired filling of the ventricles
DE with reduced diastolic volume, in the presence of normal or near
DE normal wall thickness and systolic function.
DR MIM; 612422; phenotype.
DR MedGen; C2676271.
DR MeSH; D002313.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, familial restrictive 4.
AC DI-03732
AR RCM4.
DE A heart disorder characterized by impaired filling of the ventricles
DE with reduced diastolic volume, in the presence of normal or near
DE normal wall thickness and systolic function.
DR MIM; 615248; phenotype.
DR MedGen; C3808963.
DR MedGen; CN169883.
DR MeSH; D002313.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, familial restrictive 5.
AC DI-04772
AR RCM5.
DE A heart disorder characterized by impaired filling of the ventricles
DE with reduced diastolic volume, in the presence of normal or near
DE normal wall thickness and systolic function.
DR MIM; 617047; phenotype.
DR MedGen; CN237821.
DR MeSH; D002313.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, familial restrictive 6.
AC DI-06155
AR RCM6.
DE A heart disorder characterized by impaired filling of the ventricles
DE with reduced diastolic volume, in the presence of normal or near
DE normal wall thickness and systolic function. RCM6 is an autosomal
DE recessive, severe form characterized by prenatal onset, irreversible
DE heart failure and early death.
DR MIM; 619433; phenotype.
DR MedGen; CN299794.
DR MeSH; D002313.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, infantile histiocytoid.
AC DI-00248
AR CMIH.
DE A heart disease characterized by the presence of pale granular foamy
DE histiocyte-like cells within the myocardium. It usually affects
DE children younger than 2 years of age, with a clear predominance of
DE females over males. Infants present with dysrhythmia or cardiac
DE arrest. The clinical course is usually fulminant, sometimes simulating
DE sudden infant death syndrome.
SY Cardiomyopathy focal lipid.
SY Cardiomyopathy infantile xanthomatous.
SY Cardiomyopathy oncocytic.
DR MIM; 500000; phenotype.
DR MedGen; C1708371.
DR MeSH; D009202.
KW KW-0122:Cardiomyopathy.
//
ID Cardiomyopathy, infantile hypertrophic.
AC DI-04888
AR CMHI.
DE An infantile form of hypertrophic cardiomyopathy, a heart disorder
DE characterized by ventricular hypertrophy, which is usually asymmetric
DE and often involves the interventricular septum. The symptoms include
DE dyspnea, syncope, collapse, palpitations, and chest pain. They can be
DE readily provoked by exercise. The disorder has inter- and
DE intrafamilial variability ranging from benign to malignant forms with
DE high risk of cardiac failure and sudden cardiac death.
DR MIM; 500006; phenotype.
DR MedGen; C2748884.
DR MeSH; D002312.
KW KW-0122:Cardiomyopathy.
//
ID Cardiospondylocarpofacial syndrome.
AC DI-04853
AR CSCF.
DE A syndrome characterized by growth retardation, dysmorphic facial
DE features, brachydactyly with carpal-tarsal fusion and extensive
DE posterior cervical vertebral synostosis, cardiac septal defects with
DE valve dysplasia, and deafness with inner ear malformations. CSCF
DE transmission pattern is consistent with autosomal dominant
DE inheritance.
SY Forney Robinson Pascoe syndrome.
SY Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones.
DR MIM; 157800; phenotype.
DR MedGen; C1834818.
DR MeSH; D006312.
DR MeSH; D006349.
DR MeSH; D010026.
//
ID Carey-Fineman-Ziter syndrome.
AC DI-05049
AR CFZS.
DE An autosomal recessive multisystem disorder characterized by
DE hypotonia, bilateral congenital facial palsy with impairment of ocular
DE abduction (Moebius sequence), micrognathia, glossoptosis and high-
DE arched or cleft palate (Pierre Robin complex), delayed motor
DE milestones, and failure to thrive.
SY CFZ syndrome.
SY Congenital non-progressive myopathy with Moebius and Robin sequences.
SY Myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence.
DR MIM; 254940; phenotype.
DR MedGen; C1850746.
DR MeSH; D009135.
DR MeSH; D010855.
DR MeSH; D020331.
//
ID Carney complex 1.
AC DI-01319
AR CNC1.
DE CNC is a multiple neoplasia syndrome characterized by spotty skin
DE pigmentation, cardiac and other myxomas, endocrine tumors, and
DE psammomatous melanotic schwannomas.
SY CAR.
SY Carney complex, type 1.
SY Carney myxoma-endocrine complex.
SY Carney syndrome.
SY LAMB syndrome.
SY Myxoma, spotty pigmentation, and endocrine overactivity.
SY NAME syndrome.
DR MIM; 160980; phenotype.
DR MedGen; C2607929.
DR MeSH; D056733.
//
ID Carney complex variant.
AC DI-01320
AR CACOV.
DE Carney complex is a multiple neoplasia syndrome characterized by
DE spotty skin pigmentation, cardiac and other myxomas, endocrine tumors,
DE and psammomatous melanotic schwannomas. Familial cardiac myxomas are
DE associated with spotty pigmentation of the skin and other phenotypes,
DE including primary pigmented nodular adrenocortical dysplasia,
DE extracardiac (frequently cutaneous) myxomas, schwannomas, and
DE pituitary, thyroid, testicular, bone, ovarian, and breast tumors.
DE Cardiac myxomas do not develop in all patients with the Carney
DE complex, but affected patients have at least two features of the
DE complex or one feature and a clinically significant family history.
DR MIM; 608837; phenotype.
DR MedGen; C1837245.
//
ID Carnitine palmitoyltransferase 1A deficiency.
AC DI-01321
AR CPT1AD.
DE Rare autosomal recessive metabolic disorder of long-chain fatty acid
DE oxidation characterized by severe episodes of hypoketotic hypoglycemia
DE usually occurring after fasting or illness. Onset is in infancy or
DE early childhood.
SY Carnitine palmitoyltransferase I deficiency.
SY CPT1A deficiency.
SY CPT-I deficiency.
DR MIM; 255120; phenotype.
DR MedGen; C0342789.
DR MedGen; C1829703.
//
ID Carnitine palmitoyltransferase 2 deficiency, infantile.
AC DI-03089
AR CPT2DI.
DE An autosomal recessive disorder of mitochondrial long-chain fatty acid
DE oxidation, characterized by hepatic or hepato-cardio-muscular
DE manifestations with onset in infancy. Clinical features include
DE hypoketotic hypoglycemia, lethargy, seizures, hepatomegaly, liver
DE dysfunction, cardiomegaly and dilated cardiomyopathy.
SY Carnitine palmitoyltransferase II deficiency, hepatocardiomuscular.
SY Carnitine palmitoyltransferase II deficiency with hypoketotic hypoglycemia.
SY CPT2 deficiency, infantile.
SY CPT II deficiency, hepatic.
DR MIM; 600649; phenotype.
DR MedGen; C1833511.
DR MeSH; D008661.
//
ID Carnitine palmitoyltransferase 2 deficiency, lethal neonatal.
AC DI-01323
AR CPT2DLN.
DE An autosomal recessive disorder of mitochondrial long-chain fatty acid
DE oxidation with fatal outcome, presenting shortly after birth. It is
DE characterized by respiratory distress, seizures, altered mental
DE status, hepatomegaly, cardiomegaly, cardiac arrhythmia, and, in many
DE cases, dysmorphic features, renal dysgenesis, and migration defects.
DE recessive.
SY Carnitine palmitoyltransferase II deficiency, antenatal.
SY Carnitine palmitoyltransferase II deficiency, neonatal.
SY CPT2 deficiency, lethal neonatal.
SY CPT II deficiency, lethal neonatal.
SY Lethal neonatal CPT-II deficiency.
DR MIM; 608836; phenotype.
DR MedGen; C1833518.
DR MeSH; D008661.
//
ID Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced.
AC DI-01322
AR CPT2D.
DE An autosomal recessive disorder of mitochondrial long-chain fatty acid
DE oxidation, characterized by recurrent myoglobinuria, episodes of
DE muscle pain, stiffness, and rhabdomyolysis. These symptoms are
DE exacerbated by prolonged exercise, fasting, cold, or viral infection.
DE CPT2DM affects most frequently children or young adults, and severity
DE of attacks is highly variable. Myoglobinuria can cause kidney failure
DE and death.
SY Carnitine palmitoyltransferase 2 deficiency, late-onset.
SY Carnitine palmitoyltransferase II deficiency, adult-onset.
SY Carnitine palmitoyltransferase II deficiency, myopathic.
SY CPT2 deficiency, late-onset.
SY CPT II deficiency, myopathic.
DR MIM; 255110; phenotype.
DR MedGen; C1833508.
DR MeSH; D008661.
//
ID Carnitine-acylcarnitine translocase deficiency.
AC DI-01324
AR CACTD.
DE A rare long-chain fatty acid oxidation disorder. Metabolic
DE consequences include hypoketotic hypoglycemia under fasting
DE conditions, hyperammonemia, elevated creatine kinase and
DE transaminases, dicarboxylic aciduria, very low free carnitine and
DE abnormal acylcarnitine profile with marked elevation of the long-chain
DE acylcarnitines. Clinical features include neurologic abnormalities,
DE cardiomyopathy, arrhythmias, skeletal muscle damage, liver dysfunction
DE and episodes of life-threatening coma, which eventually lead to death.
DE Most patients become symptomatic in the neonatal period with a rapidly
DE progressive deterioration and a high mortality rate.
SY CACT deficiency.
DR MIM; 212138; phenotype.
DR MedGen; C0342791.
DR MeSH; D008052.
//
ID Carpal tunnel syndrome 1.
AC DI-02811
AR CTS1.
DE A condition characterized by entrapment of the median nerve within the
DE carpal tunnel. Symptoms include burning pain and paresthesias
DE involving the ventral surface of the hand and fingers which may
DE radiate proximally. Impairment of sensation in the distribution of the
DE median nerve and thenar muscle atrophy may occur. This condition may
DE be associated with repetitive occupational trauma, wrist injuries,
DE amyloid neuropathies, rheumatoid arthritis.
SY CTS.
SY Median neuropathy carpal tunnel.
SY Thenar amyotrophy of crapal origin.
DR MIM; 115430; phenotype.
DR MedGen; C0007286.
DR MeSH; D002349.
//
ID Carpal tunnel syndrome 2.
AC DI-06003
AR CTS2.
DE An autosomal dominant form of carpal tunnel syndrome, a condition
DE characterized by entrapment of the median nerve within the carpal
DE tunnel. Symptoms include burning pain and paresthesias involving the
DE ventral surface of the hand and fingers which may radiate proximally.
DE Impairment of sensation in the distribution of the median nerve and
DE thenar muscle atrophy may occur. This condition may be associated with
DE repetitive occupational trauma, wrist injuries, amyloid neuropathies,
DE rheumatoid arthritis.
DR MIM; 619161; phenotype.
DR MedGen; CN293659.
DR MeSH; D002349.
//
ID Carpenter syndrome 1.
AC DI-01325
AR CRPT1.
DE A rare autosomal recessive disorder characterized by acrocephaly with
DE variable synostosis of the sagittal, lambdoid, and coronal sutures;
DE peculiar facies; brachydactyly of the hands with syndactyly; preaxial
DE polydactyly and syndactyly of the feet; congenital heart defects;
DE growth retardation; intellectual disability; hypogenitalism; and
DE obesity. In addition, cerebral malformations, oral and dental
DE abnormalities, coxa valga, genu valgum, hydronephrosis, precocious
DE puberty, and hearing loss may be observed.
SY ACPS2.
SY ACPS II.
SY Acrocephalopolysyndactyly 2.
SY Acrocephalopolysyndactyly type II.
SY Carpenter syndrome.
DR MIM; 201000; phenotype.
DR MedGen; C0796281.
DR MedGen; C1275078.
DR MeSH; D000168.
KW KW-0989:Craniosynostosis.
//
ID Carpenter syndrome 2.
AC DI-03635
AR CRPT2.
DE An autosomal recessive multiple congenital malformation disorder
DE characterized by multisuture craniosynostosis and polysyndactyly of
DE the hands and feet, in association with abnormal left-right patterning
DE and other features, most commonly obesity, umbilical hernia,
DE cryptorchidism, and congenital heart disease.
DR MIM; 614976; phenotype.
DR MedGen; C3554247.
DR MedGen; CN163067.
DR MeSH; D000168.
KW KW-0989:Craniosynostosis.
//
ID Caspase-8 deficiency.
AC DI-01326
AR CASP8D.
DE Disorder resembling autoimmune lymphoproliferative syndrome (ALPS). It
DE is characterized by lymphadenopathy, splenomegaly, and defective CD95-
DE induced apoptosis of peripheral blood lymphocytes (PBLs). It leads to
DE defects in activation of T-lymphocytes, B-lymphocytes, and natural
DE killer cells leading to immunodeficiency characterized by recurrent
DE sinopulmonary and herpes simplex virus infections and poor responses
DE to immunization.
DR MIM; 607271; phenotype.
DR MedGen; C1846545.
//
ID Cataract 1, multiple types.
AC DI-02470
AR CTRCT1.
DE An opacification of the crystalline lens of the eye that frequently
DE results in visual impairment or blindness. Opacities vary in
DE morphology, are often confined to a portion of the lens, and may be
DE static or progressive. CTRCT1 includes congenital, zonular
DE pulverulent, nuclear progressive, nuclear pulverulent, nuclear total,
DE total, and posterior subcapsular types of cataract. Zonular or
DE lamellar cataracts are opacities, broad or narrow, usually consisting
DE of powdery white dots affecting only certain layers or zones between
DE the cortex and nucleus of an otherwise clear lens. The opacity may be
DE so dense as to render the entire central region of the lens completely
DE opaque, or so translucent that vision is hardly if at all impeded.
DE Zonular cataracts generally do not involve the embryonic nucleus,
DE though sometimes they involve the fetal nucleus. Usually sharply
DE separated from a clear cortex outside them, they may have projections
DE from their outer edges known as riders or spokes. In some cases
DE cataract is associated with microcornea without any other systemic
DE anomaly or dysmorphism. Microcornea is defined by a corneal diameter
DE inferior to 10 mm in both meridians in an otherwise normal eye.
SY CAE1.
SY Cataract 1, multiple types, with or without microcornea.
SY Cataract Duffy-linked.
SY Cataract-microcornea syndrome.
SY Cataract zonular pulverulent 1.
SY CCMC.
SY CZNP.
SY CZP.
SY CZP1.
SY Pulverulent zonular cataract.
SY Zonular nuclear pulverulent cataract.
DR MIM; 116200; phenotype.
DR MedGen; C1861828.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 10, multiple types.
AC DI-01423
AR CTRCT10.
DE An opacification of the crystalline lens of the eye that frequently
DE results in visual impairment or blindness. Opacities vary in
DE morphology, are often confined to a portion of the lens, and may be
DE static or progressive. CTRCT10 includes congenital zonular with
DE sutural opacities, among others. This is a form of zonular cataract
DE with an erect Y-shaped anterior and an inverted Y-shaped posterior
DE sutural opacities. Zonular or lamellar cataracts are opacities, broad
DE or narrow, usually consisting of powdery white dots affecting only
DE certain layers or zones between the cortex and nucleus of an otherwise
DE clear lens. The opacity may be so dense as to render the entire
DE central region of the lens completely opaque, or so translucent that
DE vision is hardly if at all impeded. Zonular cataracts generally do not
DE involve the embryonic nucleus, though sometimes they involve the fetal
DE nucleus. Usually sharply separated from a clear cortex outside them,
DE they may have projections from their outer edges known as riders or
DE spokes.
SY Cataract, congenital, zonular with sutural opacities.
SY CCZS.
DR MIM; 600881; phenotype.
DR MedGen; C1833229.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 11, multiple types.
AC DI-02184
AR CTRCT11.
DE An opacification of the crystalline lens of the eye that frequently
DE results in visual impairment or blindness. Opacities vary in
DE morphology, are often confined to a portion of the lens, and may be
DE static or progressive. CTRCT11 includes posterior polar cataract,
DE among others. Posterior polar cataract is a subcapsular opacity,
DE usually disk-shaped, located at the back of the lens. Some CTRCT11
DE patients can present a severe phenotype including microphthalmia and
DE neurological dysfunction.
SY Cataract 11 with microphthalmia and neurodevelopmental abnormalities.
SY Cataract posterior polar 4.
SY CPP4.
SY CTPP4.
SY Syndromic cataract 11.
DR MIM; 610623; phenotype.
DR MedGen; C1864567.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 12, multiple types.
AC DI-01215
AR CTRCT12.
DE An opacification of the crystalline lens of the eye that frequently
DE results in visual impairment or blindness. Opacities vary in
DE morphology, are often confined to a portion of the lens, and may be
DE static or progressive. In general, the more posteriorly located and
DE dense an opacity, the greater the impact on visual function. The
DE opacities can be nuclear, sutural, stellate cortical, lamellar,
DE cortical, nuclear embryonic, Y-sutural, punctate cortical, congenital
DE or with juvenile- and adult-onset.
DR MIM; 611597; phenotype.
DR MedGen; C1969032.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 13, with adult i phenotype.
AC DI-03830
AR CTRCT13.
DE An opacification of the crystalline lens of the eye that frequently
DE results in visual impairment or blindness. Opacities vary in
DE morphology, are often confined to a portion of the lens, and may be
DE static or progressive. In general, the more posteriorly located and
DE dense an opacity, the greater the impact on visual function. CTRCT13
DE is associated with the rare adult i phenotype, in which adult red
DE blood cells are rich in i antigen and contain low levels of I antigen.
DR MIM; 116700; phenotype.
DR MedGen; C0266539.
DR MedGen; C1862229.
DR MedGen; C1862230.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 14, multiple types.
AC DI-02471
AR CTRCT14.
DE An opacification of the crystalline lens of the eye that frequently
DE results in visual impairment or blindness. Opacities vary in
DE morphology, are often confined to a portion of the lens, and may be
DE static or progressive. CTRCT14 includes zonular pulverulent cataract,
DE among others. Zonular or lamellar cataracts are opacities, broad or
DE narrow, usually consisting of powdery white dots affecting only
DE certain layers or zones between the cortex and nucleus of an otherwise
DE clear lens. The opacity may be so dense as to render the entire
DE central region of the lens completely opaque, or so translucent that
DE vision is hardly if at all impeded. Usually sharply separated from a
DE clear cortex outside them, they may have projections from their outer
DE edges known as riders or spokes.
SY CAE3.
SY CZP3.
SY Zonular pulverulent cataract 3.
DR MIM; 601885; phenotype.
DR MedGen; C1866078.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 15, multiple types.
AC DI-03782
AR CTRCT15.
DE An opacification of the crystalline lens of the eye that frequently
DE results in visual impairment or blindness. Opacities vary in
DE morphology, are often confined to a portion of the lens, and may be
DE static or progressive. CTRCT15 includes polymorphic, progressive
DE punctate lamellar, cortical, anterior and posterior polar,
DE nonprogressive lamellar with sutural opacities, embryonic nuclear, and
DE pulverulent cortical, among others.
DR MIM; 615274; phenotype.
DR MedGen; C3809001.
DR MedGen; CN176767.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 16, multiple types.
AC DI-02998
AR CTRCT16.
DE An opacification of the crystalline lens of the eye that frequently
DE results in visual impairment or blindness. Opacities vary in
DE morphology, are often confined to a portion of the lens, and may be
DE static or progressive. In general, the more posteriorly located and
DE dense an opacity, the greater the impact on visual function. CTRCT16
DE includes posterior polar cataract, among others. Posterior polar
DE cataract is a subcapsular opacity, usually disk-shaped, located at the
DE back of the lens.
SY Congenital lamellar cataract.
SY CTPP2.
SY Posterior polar cataract 2.
DR MIM; 613763; phenotype.
DR MedGen; C3151065.
DR MedGen; C3552997.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 17, multiple types.
AC DI-01234
AR CTRCT17.
DE An opacification of the crystalline lens of the eye that frequently
DE results in visual impairment or blindness. Opacities vary in
DE morphology, are often confined to a portion of the lens, and may be
DE static or progressive. In general, the more posteriorly located and
DE dense an opacity, the greater the impact on visual function. CTRCT17
DE includes nuclear and pulverulent cataracts, among others. Nuclear
DE cataracts affect the central nucleus of the eye, are often not highly
DE visually significant. The density of the opacities varies greatly from
DE fine dots to a dense, white and chalk-like, central cataract. The
DE condition is usually bilateral. Nuclear cataracts are often combined
DE with opacified cortical fibers encircling the nuclear opacity, which
DE are referred to as cortical riders. Pulverulent cataracts are
DE characterized by a dust-like, 'pulverised' appearance of the opacities
DE which can be found in any part of the lens.
SY Autosomal recessive congenital nuclear cataract 3.
SY Cataract 17, multiple types, with or without microcornea.
SY CATCN3.
DR MIM; 611544; phenotype.
DR MedGen; C1969062.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 18.
AC DI-03191
AR CTRCT18.
DE An opacification of the crystalline lens of the eye becoming evident
DE at birth or in infancy. It frequently results in visual impairment or
DE blindness. Opacities vary in morphology, are often confined to a
DE portion of the lens, and may be static or progressive. In general, the
DE more posteriorly located and dense an opacity, the greater the impact
DE on visual function.
SY Autosomal recessive congenital cataract 2.
SY CATC2.
DR MIM; 610019; phenotype.
DR MedGen; C1864908.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 2, multiple types.
AC DI-01425
AR CTRCT2.
DE An opacification of the crystalline lens of the eye that frequently
DE results in visual impairment or blindness. Opacities vary in
DE morphology, are often confined to a portion of the lens, and may be
DE static or progressive. CTRCT2 includes Coppock-like cataract, among
DE others. Coppock-like cataract is a congenital pulverulent disk-like
DE opacity involving the embryonic nucleus with many tiny white dots in
DE the lamellar portion of the lens. It is usually bilateral and
DE dominantly inherited. In some cases, CTRCT2 is associated with
DE microcornea without any other systemic anomaly or dysmorphism.
DE Microcornea is defined by a corneal diameter inferior to 10 mm in both
DE meridians in an otherwise normal eye.
SY Cataract 2, multiple types, with or without microcornea.
SY Cataract Coppock-like.
SY Cataract embryonic nuclear.
SY CCL.
SY Variable zonular pulverulent cataract.
DR MIM; 604307; phenotype.
DR MedGen; C1852438.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 20, multiple types.
AC DI-03776
AR CTRCT20.
DE An opacification of the crystalline lens of the eye that frequently
DE results in visual impairment or blindness. Opacities vary in
DE morphology, are often confined to a portion of the lens, and may be
DE static or progressive. In general, the more posteriorly located and
DE dense an opacity, the greater the impact on visual function. CTRCT20
DE includes progressive polymorphic anterior, posterior, or peripheral
DE cortical.
DR MIM; 116100; phenotype.
DR MedGen; C0524524.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 21, multiple types.
AC DI-01394
AR CTRCT21.
DE An opacification of the crystalline lens of the eye that frequently
DE results in visual impairment or blindness. Opacities vary in
DE morphology, are often confined to a portion of the lens, and may be
DE static or progressive. In general, the more posteriorly located and
DE dense an opacity, the greater the impact on visual function. CTRCT21
DE includes cerulean and pulverulent cataracts. Cerulean cataracts are
DE characterized by peripheral bluish and white opacifications organized
DE in concentric layers with occasional central lesions arranged
DE radially. The opacities are observed in the superficial layers of the
DE fetal nucleus as well as the adult nucleus of the lens. Involvement is
DE usually bilateral. Visual acuity is only mildly reduced in childhood.
DE In adulthood, the opacifications may progress, making lens extraction
DE necessary. Histologically the lesions are described as fusiform
DE cavities between lens fibers which contain a deeply staining granular
DE material. Although the lesions may take on various colors, a dull blue
DE is the most common appearance and is responsible for the designation
DE cerulean cataract. Pulverulent cataracts are characterized by a dust-
DE like, 'pulverised' appearance of the opacities which can be found in
DE any part of the lens. In some cases cataract is associated with
DE microcornea without any other systemic anomaly or dysmorphism.
DE Microcornea is defined by a corneal diameter inferior to 10 mm in both
DE meridians in an otherwise normal eye.
SY Cataract, pulverulent or cerulean, with or without microcornea.
SY Cataract 21, multiple types, with or without microcornea.
SY Cataract pulverulent juvenile-onset.
SY CCA4.
SY Congenital cataract blue dot type 4.
SY Congenital cataract cerulean type 4.
DR MIM; 610202; phenotype.
DR MedGen; C1857768.
DR MedGen; C1857769.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 22, multiple types.
AC DI-01233
AR CTRCT22.
DE An opacification of the crystalline lens of the eye that frequently
DE results in visual impairment or blindness. Opacities vary in
DE morphology, are often confined to a portion of the lens, and may be
DE static or progressive. In general, the more posteriorly located and
DE dense an opacity, the greater the impact on visual function. CTRCT22
DE includes nuclear cataract among others. Nuclear cataracts affect the
DE central nucleus of the eye, and are often not highly visually
DE significant. The density of the opacities varies greatly from fine
DE dots to a dense, white and chalk-like, central cataract. The condition
DE is usually bilateral. Nuclear cataracts are often combined with
DE opacified cortical fibers encircling the nuclear opacity, which are
DE referred to as cortical riders.
SY Autosomal recessive congenital nuclear cataract 2.
SY CATCN2.
SY Nuclear cataract 22.
DR MIM; 609741; phenotype.
DR MedGen; C1857853.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 23, multiple types.
AC DI-01874
AR CTRCT23.
DE An opacification of the crystalline lens of the eye that frequently
DE results in visual impairment or blindness. Opacities vary in
DE morphology, are often confined to a portion of the lens, and may be
DE static or progressive. In general, the more posteriorly located and
DE dense an opacity, the greater the impact on visual function. CTRCT23
DE is a zonular cataract. Zonular or lamellar cataracts are opacities,
DE broad or narrow, usually consisting of powdery white dots affecting
DE only certain layers or zones between the cortex and nucleus of an
DE otherwise clear lens. The opacity may be so dense as to render the
DE entire central region of the lens completely opaque, or so translucent
DE that vision is hardly if at all impeded. Zonular cataracts generally
DE do not involve the embryonic nucleus, though sometimes they involve
DE the fetal nucleus. Usually sharply separated from a clear cortex
DE outside them, they may have projections from their outer edges known
DE as riders or spokes.
SY Isolated microphthalmia with cataract 4.
SY Lamellar cataract 23.
SY MCOPCT4.
DR MIM; 610425; phenotype.
DR MedGen; C1864879.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 3, multiple types.
AC DI-01392
AR CTRCT3.
DE An opacification of the crystalline lens of the eye that frequently
DE results in visual impairment or blindness. Opacities vary in
DE morphology, are often confined to a portion of the lens, and may be
DE static or progressive. CTRCT3 includes congenital cerulean and sutural
DE cataract with punctate and cerulean opacities, among others. Cerulean
DE cataract is characterized by peripheral bluish and white
DE opacifications organized in concentric layers with occasional central
DE lesions arranged radially. The opacities are observed in the
DE superficial layers of the fetal nucleus as well as the adult nucleus
DE of the lens. Involvement is usually bilateral. Visual acuity is only
DE mildly reduced in childhood. In adulthood, the opacifications may
DE progress, making lens extraction necessary. Histologically the lesions
DE are described as fusiform cavities between lens fibers which contain a
DE deeply staining granular material. Although the lesions may take on
DE various colors, a dull blue is the most common appearance and is
DE responsible for the designation cerulean cataract. Sutural cataract
DE with punctate and cerulean opacities is characterized by white
DE opacification around the anterior and posterior Y sutures, and grayish
DE and bluish, spindle shaped, oval punctate and cerulean opacities of
DE various sizes arranged in lamellar form. The spots are more
DE concentrated towards the peripheral layers and do not delineate the
DE embryonal or fetal nucleus. Phenotypic variation with respect to the
DE size and density of the sutural opacities as well as the number and
DE position of punctate and cerulean spots is observed among affected
DE subjects.
SY CCA2.
SY Congenital cataract blue dot type 2.
SY Congenital cataract cerulean type 2.
SY CSPC.
SY Sutural cataract with punctate and cerulean opacities.
DR MIM; 601547; phenotype.
DR MedGen; C1832175.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 30, multiple types.
AC DI-03825
AR CTRCT30.
DE An opacification of the crystalline lens of the eye that frequently
DE results in visual impairment or blindness. Opacities vary in
DE morphology, are often confined to a portion of the lens, and may be
DE static or progressive. In general, the more posteriorly located and
DE dense an opacity, the greater the impact on visual function.
SY Pulverulent cataract 30.
DR MIM; 116300; phenotype.
DR MedGen; C1861827.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 31, multiple types.
AC DI-02183
AR CTRCT31.
DE An opacification of the crystalline lens of the eye that frequently
DE results in visual impairment or blindness. Opacities vary in
DE morphology, are often confined to a portion of the lens, and may be
DE static or progressive. In general, the more posteriorly located and
DE dense an opacity, the greater the impact on visual function. CTRCT31
DE includes posterior polar, progressive posterior subcapsular, nuclear,
DE and anterior subcapsular cataracts.
SY CPP3.
SY CTPP3.
SY Posterior polar cataract 3.
DR MIM; 605387; phenotype.
DR MedGen; C1854311.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 33, multiple types.
AC DI-01235
AR CTRCT33.
DE An opacification of the crystalline lens of the eye that frequently
DE results in visual impairment or blindness. Opacities vary in
DE morphology, are often confined to a portion of the lens, and may be
DE static or progressive. In general, the more posteriorly located and
DE dense an opacity, the greater the impact on visual function. CTRCT33
DE has juvenile-onset and the opacities are restricted to the cortex of
DE the lens, not involving the nucleus.
SY Cortical cataract 33.
SY Cortical juvenile-onset cataract.
DR MIM; 611391; phenotype.
DR MedGen; C1969644.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 34, multiple types.
AC DI-04893
AR CTRCT34.
DE An opacification of the crystalline lens of the eye that frequently
DE results in visual impairment or blindness. Opacities vary in
DE morphology, are often confined to a portion of the lens, and may be
DE static or progressive. In general, the more posteriorly located and
DE dense an opacity, the greater the impact on visual function.
SY Cataract, autosomal recessive congenital 3.
SY Cataract 34, multiple types, with or without microcornea.
SY CATC3.
DR MIM; 612968; phenotype.
DR MedGen; C2751822.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 36.
AC DI-03070
AR CTRCT36.
DE An opacification of the crystalline lens of the eye becoming evident
DE at birth. It frequently results in visual impairment or blindness.
DE Opacities vary in morphology, are often confined to a portion of the
DE lens, and may be static or progressive. In general, the more
DE posteriorly located and dense an opacity, the greater the impact on
DE visual function.
SY Autosomal recessive congenital cataract 4.
SY CATC4.
DR MIM; 613887; phenotype.
DR MedGen; C3151304.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 38.
AC DI-03473
AR CTRCT38.
DE An opacification of the crystalline lens of the eye becoming evident
DE at birth. It frequently results in visual impairment or blindness.
DE Opacities vary in morphology, are often confined to a portion of the
DE lens, and may be static or progressive. In general, the more
DE posteriorly located and dense an opacity, the greater the impact on
DE visual function.
SY Autosomal recessive congenital cataract 5.
SY CATC5.
DR MIM; 614691; phenotype.
DR MedGen; C3553494.
DR MedGen; CN128904.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 39, multiple types.
AC DI-03806
AR CTRCT39.
DE An opacification of the crystalline lens of the eye that frequently
DE results in visual impairment or blindness. Opacities vary in
DE morphology, are often confined to a portion of the lens, and may be
DE static or progressive. In general, the more posteriorly located and
DE dense an opacity, the greater the impact on visual function. CTRCT39
DE includes lamellar, anterior polar, and complete cataracts.
DR MIM; 615188; phenotype.
DR MedGen; C3554655.
DR MedGen; CN168984.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 4, multiple types.
AC DI-01456
AR CTRCT4.
DE An opacification of the crystalline lens of the eye that frequently
DE results in visual impairment or blindness. Opacities vary in
DE morphology, are often confined to a portion of the lens, and may be
DE static or progressive. CTRCT4 includes crystalline aculeiform,
DE congenital cerulean and non-nuclear polymorphic cataracts, among
DE others. Crystalline aculeiform cataract is characterized by
DE fiberglass-like or needle-like crystals projecting in different
DE directions, through or close to the axial region of the lens. Non-
DE nuclear polymorphic cataract is a partial opacity with variable
DE location between the fetal nucleus of the lens and the equator. The
DE fetal nucleus is normal. The opacities are irregular and look similar
DE to a bunch of grapes and may be present simultaneously in different
DE lens layers. Congenital cerulean cataract is characterized by
DE peripheral bluish and white opacifications organized in concentric
DE layers with occasional central lesions arranged radially. The
DE opacities are observed in the superficial layers of the fetal nucleus
DE as well as the adult nucleus of the lens. Involvement is usually
DE bilateral. Visual acuity is only mildly reduced in childhood. In
DE adulthood, the opacifications may progress, making lens extraction
DE necessary. Histologically the lesions are described as fusiform
DE cavities between lens fibers which contain a deeply staining granular
DE material. Although the lesions may take on various colors, a dull blue
DE is the most common appearance and is responsible for the designation
DE cerulean cataract.
SY Aculeiform cataract.
SY CACA.
SY Cataract 4, multiple types, with or without microcornea.
SY CCA3.
SY CCP.
SY Congenital cataract blue dot type 3.
SY Congenital cataract cerulean type 3.
SY Congenital non-nuclear polymorphic cataract.
SY Crystalline aculeiform cataract.
SY PCC.
SY Punctate, progressive juvenile-onset, cataract.
DR MIM; 115700; phenotype.
DR MedGen; C1852422.
DR MedGen; C1861832.
DR MedGen; C3540850.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 40.
AC DI-02922
AR CTRCT40.
DE An opacification of the crystalline lens of the eye that frequently
DE results in visual impairment or blindness. Opacities vary in
DE morphology, are often confined to a portion of the lens, and may be
DE static or progressive. CTRCT40 manifests as a congenital nuclear
DE opacity with severe visual impairment in affected males. Heterozygous
DE females have suture cataracts and only slight reduction in vision. In
DE some cases, cataract is associated with microcornea without any other
DE systemic anomaly or dysmorphism. Microcornea is defined by a corneal
DE diameter inferior to 10 mm in both meridians in an otherwise normal
DE eye.
SY Cataract 40 with or without microcornea.
SY CCT.
SY Congenital total cataract with posterior sutural opacities in heterozygotes.
SY X-linked congenital cataract.
DR MIM; 302200; phenotype.
DR MedGen; C2752078.
DR MedGen; C2930878.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 41.
AC DI-04010
AR CTRCT41.
DE An opacification of the crystalline lens of the eye that frequently
DE results in visual impairment or blindness. Opacities vary in
DE morphology, are often confined to a portion of the lens, and may be
DE static or progressive.
SY Congenital nuclear cataract 41.
DR MIM; 116400; phenotype.
DR MedGen; C1861826.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 42.
AC DI-04171
AR CTRCT42.
DE An opacification of the crystalline lens of the eye that frequently
DE results in visual impairment or blindness. Opacities vary in
DE morphology, are often confined to a portion of the lens, and may be
DE static or progressive. In general, the more posteriorly located and
DE dense an opacity, the greater the impact on visual function.
DR MIM; 115900; phenotype.
DR MedGen; C1861830.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 43.
AC DI-04361
AR CTRCT43.
DE An opacification of the crystalline lens of the eye that frequently
DE results in visual impairment or blindness. Opacities vary in
DE morphology, are often confined to a portion of the lens, and may be
DE static or progressive. In general, the more posteriorly located and
DE dense an opacity, the greater the impact on visual function.
DR MIM; 616279; phenotype.
DR MedGen; CN228776.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 44.
AC DI-04502
AR CTRCT44.
DE An opacification of the crystalline lens of the eye that frequently
DE results in visual impairment or blindness. Opacities vary in
DE morphology, are often confined to a portion of the lens, and may be
DE static or progressive. In general, the more posteriorly located and
DE dense an opacity, the greater the impact on visual function.
SY Cataract and hypotrichosis.
DR MIM; 616509; phenotype.
DR MedGen; CN232096.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 45.
AC DI-04671
AR CTRCT45.
DE An opacification of the crystalline lens of the eye that frequently
DE results in visual impairment or blindness. Opacities vary in
DE morphology, are often confined to a portion of the lens, and may be
DE static or progressive. In general, the more posteriorly located and
DE dense an opacity, the greater the impact on visual function.
DR MIM; 616851; phenotype.
DR MedGen; CN235470.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy.
AC DI-04739
AR CTRCT46.
DE A form of cataract, an opacification of the crystalline lens of the
DE eye that frequently results in visual impairment or blindness.
DE Opacities vary in morphology, are often confined to a portion of the
DE lens, and may be static or progressive. In general, the more
DE posteriorly located and dense an opacity, the greater the impact on
DE visual function. CTRCT46 can be associated with variable onset of a
DE severe form of arrhythmic cardiomyopathy resulting in sudden cardiac
DE death.
SY Cataract, juvenile, Hutterite type.
SY Cataract Hutterite type.
DR MIM; 212500; phenotype.
DR MedGen; C2931791.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 47.
AC DI-01327
AR CTRCT47.
DE A form of cataract, an opacification of the crystalline lens of the
DE eye that frequently results in visual impairment or blindness.
DE Opacities vary in morphology, are often confined to a portion of the
DE lens, and may be static or progressive. In general, the more
DE posteriorly located and dense an opacity, the greater the impact on
DE visual function. CTRCT47 is characterized by the association of
DE cataract with microcornea and renal glucosuria. Microcornea is defined
DE by a corneal diameter inferior to 10 mm in both meridians in an
DE otherwise normal eye. Renal glucosuria is defined by elevated glucose
DE level in the urine without hyperglycemia and without evidence of
DE morphological renal anomalies.
SY Cataract, juvenile, with microcornea.
SY Cataract, juvenile, with microcornea and glucosuria.
SY Cataract 47, juvenile, with microcornea.
SY CJMG.
DR MIM; 612018; phenotype.
DR MedGen; C2677587.
DR MeSH; D002386.
DR MeSH; D006030.
KW KW-0898:Cataract.
//
ID Cataract 48.
AC DI-05553
AR CTRCT48.
DE A form of cataract, an opacification of the crystalline lens of the
DE eye that frequently results in visual impairment or blindness.
DE Opacities vary in morphology, are often confined to a portion of the
DE lens, and may be static or progressive. In general, the more
DE posteriorly located and dense an opacity, the greater the impact on
DE visual function. CTRCT48 is an autosomal recessive form characterized
DE by infantile or early-childhood onset.
DR MIM; 618415; phenotype.
DR MedGen; CN258369.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 49.
AC DI-06237
AR CTRCT49.
DE A form of cataract, an opacification of the crystalline lens of the
DE eye that frequently results in visual impairment or blindness.
DE Opacities vary in morphology, are often confined to a portion of the
DE lens, and may be static or progressive. In general, the more
DE posteriorly located and dense an opacity, the greater the impact on
DE visual function. CTRCT49 is an autosomal dominant form characterized
DE by congenital cataract located in the posterior region of the lens.
DE Visual impairment has onset in early childhood.
SY Cataract 49, posterior.
DR MIM; 619593; phenotype.
DR MedGen; CN301093.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 5, multiple types.
AC DI-02507
AR CTRCT5.
DE An opacification of the crystalline lens of the eye that frequently
DE results in visual impairment or blindness. Opacities vary in
DE morphology, are often confined to a portion of the lens, and may be
DE static or progressive. CTRCT5 includes infantile, lamellar, zonular,
DE nuclear, anterior polar, stellate, and Marner-type cataracts, among
DE others. Finger malformation is observed in some kindreds.
SY CAM.
SY Cataract Marner type.
SY CTM.
DR MIM; 116800; phenotype.
DR MedGen; C0266537.
DR MedGen; C1861821.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 6, multiple types.
AC DI-02506
AR CTRCT6.
DE An opacification of the crystalline lens of the eye that frequently
DE results in visual impairment or blindness. Opacities vary in
DE morphology, are often confined to a portion of the lens, and may be
DE static or progressive. CTRCT6 includes posterior polar and age-related
DE cortical cataracts, among others. Posterior polar cataract is a
DE subcapsular opacity, usually disk-shaped, located at the back of the
DE lens. Age-related cortical cataract is a developmental punctate
DE opacity restricted to the cortex. The cataract is white or cerulean,
DE increases in number with age, but rarely affects vision.
SY Age-related cortical cataract 2.
SY ARCC2.
SY Cataract posterior polar 1.
SY CTPA.
SY CTPP.
SY CTPP1.
DR MIM; 116600; phenotype.
DR MedGen; C1861825.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract 9, multiple types.
AC DI-01200
AR CTRCT9.
DE An opacification of the crystalline lens of the eye that frequently
DE results in visual impairment or blindness. Opacities vary in
DE morphology, are often confined to a portion of the lens, and may be
DE static or progressive. In general, the more posteriorly located and
DE dense an opacity, the greater the impact on visual function. CTRCT9
DE includes nuclear, zonular central nuclear, anterior polar, cortical,
DE embryonal, anterior subcapsular, fan-shaped, and total cataracts,
DE among others. In some cases cataract is associated with microcornea
DE without any other systemic anomaly or dysmorphism. Microcornea is
DE defined by a corneal diameter inferior to 10 mm in both meridians in
DE an otherwise normal eye.
SY Autosomal dominant congenital cataract.
SY Autosomal recessive congenital cataract 1.
SY Cataract 9, multiple types, with or without microcornea.
SY Cataract autosomal dominant.
SY CATC1.
DR MIM; 604219; phenotype.
DR MedGen; C1858679.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataract, multiple types 19.
AC DI-03783
AR CTRCT19.
DE An opacification of the crystalline lens of the eye that frequently
DE results in visual impairment or blindness. Opacities vary in
DE morphology, are often confined to a portion of the lens, and may be
DE static or progressive. In general, the more posteriorly located and
DE dense an opacity, the greater the impact on visual function.
DR MIM; 615277; phenotype.
DR MedGen; C3809004.
DR MedGen; CN176771.
DR MeSH; D002386.
KW KW-0898:Cataract.
//
ID Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.
AC DI-04264
AR CAGSSS.
DE An autosomal recessive disorder characterized by cataracts, short-
DE stature secondary to growth hormone deficiency, sensorineural hearing
DE deficit, peripheral sensory neuropathy, skeletal dysplasia, scoliosis,
DE and facial dysmorphism.
DR MIM; 616007; phenotype.
DR MedGen; CN221141.
DR MeSH; D001848.
DR MeSH; D002386.
DR MeSH; D006319.
DR MeSH; D009477.
KW KW-0209:Deafness.
KW KW-0622:Neuropathy.
KW KW-0898:Cataract.
//
ID Cataracts, spastic paraparesis, and speech delay.
AC DI-06115
AR CSPSD.
DE An autosomal dominant disease characterized by bilateral cataracts
DE apparent at birth or in infancy, spastic paraparesis, truncal
DE hypotonia, delayed psychomotor development, and speech delay.
DR MIM; 619338; phenotype.
DR MedGen; CN296801.
DR MeSH; D002386.
DR MeSH; D009461.
KW KW-0898:Cataract.
//
ID Catel-Manzke syndrome.
AC DI-04301
AR CATMANS.
DE A syndrome characterized by Pierre Robin sequence and a unique form of
DE bilateral hyperphalangy causing a clinodactyly of the index finger.
DE Pierre Robin sequence includes an opening in the roof of the mouth (a
DE cleft palate), a large tongue (macroglossia), and a small lower jaw
DE (micrognathia).
SY Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome.
SY Index finger anomaly with Pierre Robin syndrome.
SY Micrognathia digital syndrome.
SY Palatodigital syndrome, Catel-Manzke type.
SY Pierre Robin syndrome with hyperphalangy and clinodactyly.
DR MIM; 616145; phenotype.
DR MedGen; C1844887.
DR MeSH; D006228.
DR MeSH; D010855.
//
ID CATIFA syndrome.
AC DI-05742
AR CATIFA.
DE An autosomal recessive disorder characterized by global developmental
DE delay, intellectual disability, and behavioral abnormalities with mild
DE to severe attention-deficit hyperactivity disorder. Motor, speech and
DE cognitive deficits range from mild to severe. Patients show
DE craniofacial dysmorphism including elongated face, short, broad
DE upturned nose with anteverted nares and long philtrum. Additional
DE clinical features are cleft lip/palate, tooth abnormalities, and
DE visual impairment due to cataract, strabismus and poor visual
DE tracking.
SY Cleft lip, cataract, tooth abnormality, intellectual disability, facial dysmorphism, attention-deficit hyperactivity disorder.
DR MIM; 618761; phenotype.
DR MedGen; CN263223.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Caudal duplication anomaly.
AC DI-02877
AR CADUA.
DE A condition characterized by the occurrence of duplications of
DE different organs in the caudal region.
DR MIM; 607864; phenotype.
DR MedGen; C1842884.
DR MeSH; D000015.
//
ID Cavitary optic disc anomalies.
AC DI-04537
AR CODA.
DE An ocular disease characterized by a profound excavation of the optic
DE nerve. Clinical phenotype is variable and includes congenitally
DE excavated optic nerves as well as other features of optic pit, optic
DE nerve coloboma, and morning glory disk anomaly. Patients with CODA
DE have a strong predilection for retinal detachment and/or separation of
DE the retinal layers (retinoschisis) that lead to profound central
DE vision loss.
DR MIM; 611543; phenotype.
DR MedGen; C1969063.
DR MeSH; D015785.
//
ID CD8 deficiency, familial.
AC DI-01560
AR CD8 deficiency.
DE An immunologic defect characterized by absence of CD8+ cells, leading
DE to recurrent bacterial infections.
DR MIM; 608957; phenotype.
DR MedGen; C1837065.
DR MeSH; D007153.
//
ID CEBALID syndrome.
AC DI-05758
AR CEBALID.
DE An autosomal dominant developmental disorder characterized by global
DE developmental delay, intellectual disability with severe expressive
DE language delay, craniofacial dysmorphism, and structural brain
DE abnormalities. Most patients have an atypical form of
DE rhombencephalosynapsis, a distinctive brain malformation characterized
DE by partial or complete loss of the cerebellar vermis with fusion of
DE the cerebellar hemispheres. Other frequent features include
DE perisylvian polymicrogyria, abnormal posterior clinoid processes,
DE cerebellar hypoplasia or dysplasia, and persistent trigeminal artery.
SY Craniofacial defects, dysmorphic ears, structural brain abnormalities, expressive language delay, and impaired intellectual development.
SY MCTT.
SY MN1 C-terminal truncation syndrome.
DR MIM; 618774; phenotype.
DR MedGen; CN263278.
DR MeSH; D008607.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Celiac disease 13.
AC DI-02885
AR CELIAC13.
DE A multifactorial, chronic disorder of the small intestine caused by
DE intolerance to gluten. It is characterized by immune-mediated
DE enteropathy associated with failed intestinal absorption, and
DE malnutrition. In predisposed individuals, the ingestion of gluten-
DE containing food such as wheat and rye induces a flat jejunal mucosa
DE with infiltration of lymphocytes.
SY Gluten-sensitive enteropathy 13.
DR MIM; 612011; phenotype.
DR MedGen; C2677601.
DR MeSH; D002446.
//
ID Celiac disease 3.
AC DI-02883
AR CELIAC3.
DE A multifactorial, chronic disorder of the small intestine caused by
DE intolerance to gluten. It is characterized by immune-mediated
DE enteropathy associated with failed intestinal absorption, and
DE malnutrition. In predisposed individuals, the ingestion of gluten-
DE containing food such as wheat and rye induces a flat jejunal mucosa
DE with infiltration of lymphocytes.
SY Gluten-sensitive enteropathy 3.
DR MIM; 609755; phenotype.
DR MedGen; C1857845.
DR MeSH; D002446.
//
ID Celiac disease 4.
AC DI-02884
AR CELIAC4.
DE A multifactorial, chronic disorder of the small intestine caused by
DE intolerance to gluten. It is characterized by immune-mediated
DE enteropathy associated with failed intestinal absorption, and
DE malnutrition. In predisposed individuals, the ingestion of gluten-
DE containing food such as wheat and rye induces a flat jejunal mucosa
DE with infiltration of lymphocytes.
SY Gluten-sensitive enteropathy 4.
DR MIM; 609753; phenotype.
DR MedGen; C1857847.
DR MeSH; D002446.
//
ID Cenani-Lenz syndactyly syndrome.
AC DI-02834
AR CLSS.
DE A congenital malformation syndrome defined as complete and complex
DE syndactyly of the hands combined with malformations of the forearm
DE bones and similar manifestations in the lower limbs. It is
DE characterized by fusion and disorganization of metacarpal and
DE phalangeal bones, radius and ulnar shortening, radioulnar synostosis,
DE and severe syndactyly of hands and feet.
SY Cenani-Lenz syndactyly.
SY Cenani-Lenz syndrome.
SY Cenani syndactylism.
SY Syndactyly type 7.
SY Syndactyly type VII.
DR MIM; 212780; phenotype.
DR MedGen; C1859309.
DR MeSH; D013576.
//
ID Central core disease of muscle.
AC DI-01331
AR CCD.
DE Autosomal dominant congenital myopathy, but a severe autosomal
DE recessive form also exists. Both clinical and histological variability
DE is observed. Affected individuals typically display hypotonia and
DE proximal muscle weakness in infancy, leading to the delay of motor
DE milestones. The clinical course of the disorder is usually slow or
DE nonprogressive in adulthood, and the severity of the symptoms may vary
DE from normal to significant muscle weakness. Microscopic examination of
DE CCD-affected skeletal muscle reveals a predominance of type I fibers
DE containing amorphous-looking areas (cores) that do not stain with
DE oxidative and phosphorylase histochemical techniques.
DR MIM; 117000; phenotype.
DR MedGen; C0751951.
DR MedGen; C1861751.
DR MedGen; C1861752.
DR MedGen; C1861753.
DR MedGen; C2674259.
//
ID Central hypoventilation syndrome, congenital, 1.
AC DI-01391
AR CCHS1.
DE An autosomal dominant form of congenital central hypoventilation
DE syndrome, a rare disorder characterized by abnormal control of
DE respiration in the absence of neuromuscular or lung disease, or an
DE identifiable brain stem lesion. A deficiency in autonomic control of
DE respiration results in inadequate or negligible ventilatory and
DE arousal responses to hypercapnia and hypoxemia.
SY CCHS.
SY Central hypoventilation syndrome, congenital.
SY Congenital failure of autonomic control.
SY Ondine curse.
DR MIM; 209880; phenotype.
DR MedGen; C1275808.
DR MedGen; C1859049.
DR MedGen; C1876168.
DR MeSH; D007040.
DR MeSH; D020182.
//
ID Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction.
AC DI-06200
AR CCHS2.
DE An autosomal recessive form of congenital central hypoventilation
DE syndrome, a rare disorder characterized by abnormal control of
DE respiration in the absence of neuromuscular, lung or cardiac disease,
DE or an identifiable brainstem lesion. CCHS2 is characterized by shallow
DE breathing and apneic spells apparent in the neonatal period. Some
DE patients have other features of autonomic dysfunction, including
DE bladder dysfunction, sinus bradycardia, and temperature dysregulation.
DR MIM; 619482; phenotype.
DR MedGen; CN300369.
DR MeSH; D001049.
DR MeSH; D007040.
//
ID Central hypoventilation syndrome, congenital, 3.
AC DI-06215
AR CCHS3.
DE A form of congenital central hypoventilation syndrome, a rare disorder
DE characterized by abnormal control of respiration in the absence of
DE neuromuscular, lung or cardiac disease, or an identifiable brainstem
DE lesion. CCHS3 is an autosomal recessive, neonatal form characterized
DE by slow and shallow breathing due to a deficiency in autonomic control
DE of respiration. Affected individuals present with respiratory
DE insufficiency and absence of the hypercapnic reflex that stimulates
DE breathing. Additional features include gastrointestinal problems, poor
DE heat tolerance and paroxysmal hypertension.
DR MIM; 619483; phenotype.
DR MedGen; CN300491.
DR MeSH; D001049.
DR MeSH; D007040.
//
ID Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss.
AC DI-04236
AR CAPOS.
DE An autosomal dominant neurologic disorder characterized by relapsing
DE and partially remitting, early-onset cerebellar ataxia following a
DE febrile illness. Other features include progressive optic atrophy and
DE sensorineural hearing loss, generalized hypotonia, areflexia and pes
DE cavus without evidence of a peripheral neuropathy on
DE neurophysiological studies.
SY CAPOS syndrome.
DR MIM; 601338; phenotype.
DR MedGen; C1832466.
DR MeSH; D002524.
DR MeSH; D005532.
DR MeSH; D006319.
DR MeSH; D009896.
KW KW-0209:Deafness.
//
ID Cerebellar ataxia, brain abnormalities, and cardiac conduction defects.
AC DI-06242
AR CABAC.
DE An autosomal recessive disorder characterized by global developmental
DE delay, impaired intellectual development and speech delay that are
DE observed in most patients. Disease manifestations are variable and
DE include infantile-onset hypotonia, poor motor development, poor
DE feeding and overall growth, and ataxic gait due to cerebellar ataxia.
DE Additional variable features are dysarthria, nystagmus, variable
DE ocular anomalies, spasticity, hyperreflexia, and non-specific
DE dysmorphic features. Brain imaging shows cerebellar hypoplasia, often
DE with brainstem hypoplasia, enlarged ventricles, delayed myelination,
DE and thin corpus callosum. A significant number of patients develop
DE cardiac conduction defects in childhood or adolescence.
DR MIM; 619576; phenotype.
DR MedGen; CN301080.
DR MeSH; D000075224.
DR MeSH; D001927.
DR MeSH; D009461.
KW KW-0991:Intellectual disability.
//
ID Cerebellar ataxia, cayman type.
AC DI-01333
AR ATCAY.
DE Found in a population isolate on Grand Cayman Island and causes a
DE marked psychomotor retardation and prominent nonprogressive cerebellar
DE dysfunction including nystagmus, intention tremor, dysarthria, and
DE wide-based ataxic gait. Hypotonia is present from early childhood.
DR MIM; 601238; phenotype.
DR MedGen; C1832585.
//
ID Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant.
AC DI-03793
AR ADCADN.
DE An autosomal dominant neurologic disorder characterized by adult onset
DE of progressive cerebellar ataxia, narcolepsy, cataplexy, sensorineural
DE deafness, and dementia. More variable features include optic atrophy,
DE sensory neuropathy, psychosis, and depression.
DR MIM; 604121; phenotype.
DR MedGen; C1858804.
DR MeSH; D002524.
DR MeSH; D006319.
DR MeSH; D009290.
KW KW-0209:Deafness.
//
ID Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1.
AC DI-02742
AR CAMRQ1.
DE An autosomal recessive, congenital, non-progressive cerebellar ataxia
DE associated with disturbed equilibrium, delayed ambulation,
DE intellectual disability, cerebellar hypoplasia and mild cerebral gyral
DE simplification. Additional features include short stature, strabismus,
DE pes planus and, rarely, seizures.
SY Cerebellar hypoplasia VLDLR-associated.
SY DES.
SY Dysequilibrium syndrome.
DR MIM; 224050; phenotype.
DR MedGen; C0394006.
DR MeSH; D002524.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2.
AC DI-03450
AR CAMRQ2.
DE An autosomal recessive, congenital cerebellar ataxia associated with
DE cerebellar hypoplasia, intellectual disability, and inability to walk
DE bipedally, resulting in quadrupedal locomotion as a functional
DE adaptation. Additional findings include generalized brain atrophy and
DE mild hypoplasia of the corpus callosum.
DR MIM; 610185; phenotype.
DR MedGen; C2750234.
DR MeSH; D002524.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3.
AC DI-02743
AR CMARQ3.
DE An autosomal recessive, congenital cerebellar ataxia associated with
DE dysarthia, quadrupedal gait and intellectual disability.
DR MIM; 613227; phenotype.
DR MedGen; C2750509.
DR MeSH; D002524.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4.
AC DI-03773
AR CAMRQ4.
DE An autosomal recessive, congenital cerebellar ataxia associated with
DE dysarthia, quadrupedal gait and intellectual disability.
DR MIM; 615268; phenotype.
DR MedGen; C3808977.
DR MedGen; CN176751.
DR MeSH; D002524.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome.
AC DI-05548
AR CANVAS.
DE An autosomal recessive neurologic disease characterized by imbalance,
DE cerebellar ataxia, impaired vestibular function, and non-length-
DE dependent sensory deficit.
DR MIM; 614575; phenotype.
DR MedGen; C3281223.
DR MeSH; D009461.
KW KW-0622:Neuropathy.
//
ID Cerebellar atrophy with seizures and variable developmental delay.
AC DI-05616
AR CASVDD.
DE An autosomal recessive neurologic disorder characterized by cerebellar
DE ataxia, atrophy of the cerebellar vermis, severe refractory seizures
DE with early onset, and global developmental delay compatible with
DE epileptic encephalopathy in most patients. Disease severity is
DE variable and normal cognitive development has also been reported.
DR MIM; 618501; phenotype.
DR MedGen; CN261027.
DR MeSH; D004827.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
//
ID Cerebellar atrophy, developmental delay, and seizures.
AC DI-05076
AR CADEDS.
DE An autosomal recessive disease characterized by epilepsy,
DE developmental delay and severe cerebellar atrophy.
DR MIM; 617643; phenotype.
DR MedGen; CN424851.
DR MeSH; D004827.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
//
ID Cerebellar atrophy, visual impairment, and psychomotor retardation.
AC DI-04673
AR CAVIPMR.
DE An autosomal recessive, neurodegenerative disorder characterized by
DE developmental delay, intellectual disability, hypotonia, scoliosis,
DE cerebellar atrophy, and variable dysmorphic features.
DR MIM; 616875; phenotype.
DR MedGen; CN235863.
DR MeSH; D002526.
DR MeSH; D019636.
KW KW-0523:Neurodegeneration.
//
ID Cerebellar dysfunction with variable cognitive and behavioral abnormalities.
AC DI-03530
AR CECBA.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE mildly delayed psychomotor development, early onset of cerebellar
DE ataxia, and intellectual disability later in childhood and adult life.
DE Other features may include neonatal hypotonia, dysarthria, and
DE dysmetria. Brain imaging in some patients shows cerebellar atrophy.
DE Dysmorphic facial features are variable.
SY CANPMR.
DR MIM; 614756; phenotype.
DR MedGen; C3553661.
DR MedGen; CN142515.
DR MeSH; D002524.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism.
AC DI-06352
AR CDIDHH.
DE An autosomal recessive disorder characterized by delayed motor
DE development, ataxia with cerebellar hypoplasia, severe progressive
DE scoliosis, moderate to severe intellectual disability, and delayed
DE puberty with congenital hypogonadotropic hypogonadism.
DR MIM; 619761; phenotype.
DR MedGen; CN306734.
DR MeSH; D002526.
DR MeSH; D007006.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
KW KW-1016:Hypogonadotropic hypogonadism.
//
ID Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay.
AC DI-05744
AR CHEGDD.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE infantile onset of hypotonia, global developmental delay, delayed
DE walking, and severely impaired intellectual development with profound
DE speech delay. Patients manifest cerebellar atrophy and childhood-onset
DE epilepsy.
DR MIM; 213000; phenotype.
DR MedGen; C0266470.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Cerebellar, ocular, craniofacial, and genital syndrome.
AC DI-05597
AR COFG.
DE An autosomal recessive syndrome characterized by moderate to severe
DE developmental delay, intellectual disability, cerebellar hypoplasia
DE with ataxia, variable microcephaly, ophthalmological anomalies, facial
DE dysmorphism, absent or underdeveloped nipples, underdeveloped
DE labioscrotal folds and scrotal agenesis.
DR MIM; 618479; phenotype.
DR MedGen; CN260096.
DR MeSH; D000015.
KW KW-0991:Intellectual disability.
//
ID Cerebellofaciodental syndrome.
AC DI-04315
AR CFDS.
DE An autosomal recessive disorder characterized by cerebellar
DE hypoplasia, delayed development and intellectual disability, as well
DE as facial dysmorphic features, short stature, microcephaly, and dental
DE anomalies.
SY Cerebellar-facial-dental syndrome.
DR MIM; 616202; phenotype.
DR MedGen; CN225198.
DR MeSH; D002526.
DR MeSH; D004392.
DR MeSH; D008607.
DR MeSH; D019066.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
//
ID Cerebral amyloid angiopathy, APP-related.
AC DI-00097
AR CAA-APP.
DE A hereditary localized amyloidosis due to amyloid-beta A4 peptide(s)
DE deposition in the cerebral vessels. The principal clinical
DE characteristics are recurrent cerebral and cerebellar hemorrhages,
DE recurrent strokes, cerebral ischemia, cerebral infarction, and
DE progressive mental deterioration. Patients develop cerebral hemorrhage
DE because of the severe cerebral amyloid angiopathy. Parenchymal amyloid
DE deposits are rare and largely in the form of pre-amyloid lesions or
DE diffuse plaque-like structures. They are Congo red negative and lack
DE the dense amyloid cores commonly present in Alzheimer disease. Some
DE affected individuals manifest progressive aphasic dementia,
DE leukoencephalopathy, and occipital calcifications.
SY Amyloidosis cerebroarterial APP-related.
SY Amyloidosis hereditary with cerebral hemorrhage Dutch variant.
SY Cerebral amyloid angiopathy APP-related Arctic variant.
SY Cerebral amyloid angiopathy APP-related Dutch variant.
SY Cerebral amyloid angiopathy APP-related Flemish variant.
SY Cerebral amyloid angiopathy APP-related Iowa variant.
SY Cerebral amyloid angiopathy APP-related Italian variant.
SY Familial occipital calcifications with hemorrhagic strokes leukoencephalopathy arterial dysplasia dementia.
SY FOCHS-LADD.
SY HCHWAD.
SY HCHWA-D.
SY Hereditary cerebral amyloid angiopathy Dutch type.
SY Hereditary cerebral hemorrhage with amyloidosis Dutch type.
SY Hereditary cerebral hemorrhage with amyloidosis Italian type.
DR MIM; 605714; phenotype.
DR MedGen; C2751536.
DR MedGen; C2931672.
DR MeSH; D028243.
KW KW-1008:Amyloidosis.
//
ID Cerebral amyloid angiopathy, ITM2B-related 1.
AC DI-02619
AR CAA-ITM2B1.
DE A disorder characterized by amyloid deposition in the walls of
DE cerebral blood vessels and neurodegeneration in the central nervous
DE system. Cerebral amyloid angiopathy, non-neuritic and perivascular
DE plaques and neurofibrillary tangles are the predominant pathological
DE lesions. Clinical features include progressive mental deterioration,
DE spasticity and muscular rigidity.
SY Cerebral amyloid angiopathy British type.
SY Familial British dementia.
SY FBD.
SY Presenile dementia with spastic ataxia.
DR MIM; 176500; phenotype.
DR MedGen; C1867773.
DR MeSH; D028243.
KW KW-1008:Amyloidosis.
//
ID Cerebral amyloid angiopathy, ITM2B-related 2.
AC DI-02617
AR CAA-ITM2B2.
DE A disorder characterized by amyloid deposition in the walls of the
DE blood vessels of the cerebrum, choroid plexus, cerebellum, spinal cord
DE and retina. Plaques and neurofibrillary tangles are observed in the
DE hippocampus. Clinical features include progressive ataxia, dementia,
DE cataracts and deafness.
SY Cerebellar ataxia cataract deafness and dementia or psychosis.
SY Familial Danish dementia.
SY FDD.
SY Heredopathia ophthalmootoencephalica.
SY HOOE.
DR MIM; 117300; phenotype.
DR MedGen; C1861735.
DR MeSH; D028243.
KW KW-1008:Amyloidosis.
//
ID Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1.
AC DI-01334
AR CADASIL1.
DE A cerebrovascular disease characterized by multiple subcortical
DE infarcts, pseudobulbar palsy, dementia, and the presence of granular
DE deposits in small cerebral arteries producing ischemic stroke.
SY CADASIL.
SY CASIL.
SY Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant.
SY Dementia hereditary multiinfarct type.
SY Dementia hereditary multi-infarct type.
DR MIM; 125310; phenotype.
DR MedGen; C0751587.
DR MedGen; C1272305.
DR MeSH; D046589.
//
ID Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2.
AC DI-04641
AR CADASIL2.
DE A cerebrovascular disease characterized by multiple subcortical
DE infarcts, pseudobulbar palsy, dementia, and the presence of granular
DE deposits in small cerebral arteries producing ischemic stroke.
SY Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2.
SY Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant, 2.
DR MIM; 616779; phenotype.
DR MedGen; CN235016.
DR MeSH; D046589.
//
ID Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy.
AC DI-02549
AR CARASIL.
DE A cerebrovascular disease characterized by non-hypertensive
DE arteriopathy of cerebral small vessels with subcortical infarcts,
DE alopecia, and spondylosis. Small cerebral arteries show
DE arteriosclerotic changes, fibrous intimal proliferation, and hyaline
DE degeneration with splitting of the intima and/or the internal elastic
DE membrane. Neurologic features include progressive dementia, gait
DE disturbances, extrapyramidal and pyramidal signs, and demyelination of
DE the cerebral white matter with sparing of U fibers.
SY CARASIL syndrome.
SY Cerebrovascular disease with thin skin, alopecia, and disk disease.
SY Maeda syndrome.
SY Progressive subcortical vascular encephalopathy.
SY Subcortical vascular encephalopathy, progressive.
DR MIM; 600142; phenotype.
DR MedGen; C1838577.
DR MeSH; D015140.
//
ID Cerebral cavernous malformations 1.
AC DI-00255
AR CCM1.
DE A form of cerebral cavernous malformations, a congenital vascular
DE anomaly of the central nervous system that can result in hemorrhagic
DE stroke, seizures, recurrent headaches, and focal neurologic deficits.
DE The lesions are characterized by grossly enlarged blood vessels
DE consisting of a single layer of endothelium and without any
DE intervening neural tissue, ranging in diameter from a few millimeters
DE to several centimeters. CCM1 inheritance is autosomal dominant.
SY Cavernous angiomatous malformations.
SY Cavernous hemangioma of the brain.
SY Cerebral capillary malformations.
SY Cerebral cavernoma.
SY Familial cavernous angioma.
DR MIM; 116860; phenotype.
DR MedGen; C1861784.
DR MedGen; C1861785.
DR MedGen; C1861786.
DR MedGen; C2919945.
DR MedGen; CN042719.
DR MeSH; D020786.
//
ID Cerebral cavernous malformations 2.
AC DI-00256
AR CCM2.
DE A form of cerebral cavernous malformations, a congenital vascular
DE anomaly of the central nervous system that can result in hemorrhagic
DE stroke, seizures, recurrent headaches, and focal neurologic deficits.
DE The lesions are characterized by grossly enlarged blood vessels
DE consisting of a single layer of endothelium and without any
DE intervening neural tissue, ranging in diameter from a few millimeters
DE to several centimeters. CCM2 inheritance is autosomal dominant.
SY Cavernous angiomatous malformations.
SY Cavernous hemangioma of the brain.
SY Cerebral capillary malformations.
SY Cerebral cavernoma.
SY Familial cavernous angioma.
DR MIM; 603284; phenotype.
DR MedGen; C1864041.
DR MeSH; D020786.
//
ID Cerebral cavernous malformations 3.
AC DI-00257
AR CCM3.
DE A form of cerebral cavernous malformations, a congenital vascular
DE anomaly of the central nervous system that can result in hemorrhagic
DE stroke, seizures, recurrent headaches, and focal neurologic deficits.
DE The lesions are characterized by grossly enlarged blood vessels
DE consisting of a single layer of endothelium and without any
DE intervening neural tissue, ranging in diameter from a few millimeters
DE to several centimeters. CCM3 inheritance is autosomal dominant.
SY Cavernous angiomatous malformations.
SY Cavernous hemangioma of the brain.
SY Cerebral capillary malformations.
SY Cerebral cavernoma.
SY Familial cavernous angioma.
DR MIM; 603285; phenotype.
DR MedGen; C1864040.
DR MeSH; D020786.
//
ID Cerebral cavernous malformations 4.
AC DI-06256
AR CCM4.
DE A form of cerebral cavernous malformations, a congenital vascular
DE anomaly of the central nervous system that can result in hemorrhagic
DE stroke, seizures, recurrent headaches, and focal neurologic deficits.
DE The lesions are characterized by grossly enlarged blood vessels
DE consisting of a single layer of endothelium and without any
DE intervening neural tissue, ranging in diameter from a few millimeters
DE to several centimeters. CCM4 cases occur sporadically.
DR MIM; 619538; phenotype.
DR MedGen; CN119550.
DR MeSH; D020786.
//
ID Cerebral creatine deficiency syndrome 1.
AC DI-02440
AR CCDS1.
DE An X-linked disorder of creatine transport characterized by
DE intellectual disability, severe speech delay, behavioral
DE abnormalities, and seizures. Carrier females may show mild
DE neuropsychologic impairment.
SY Creatine transporter defect.
SY X-linked creatine deficiency syndrome.
DR MIM; 300352; phenotype.
DR MedGen; C1845862.
DR MeSH; D020739.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Cerebral creatine deficiency syndrome 2.
AC DI-01690
AR CCDS2.
DE An autosomal recessive disorder characterized by developmental delay
DE and regression, intellectual disability, severe disturbance of
DE expressive and cognitive speech, intractable seizures, movement
DE disturbances, severe depletion of creatine and phosphocreatine in the
DE brain, and accumulation of guanidinoacetic acid in brain and body
DE fluids.
SY Creatine deficiency syndrome due to GAMT deficiency.
SY GAMT deficiency.
SY Guanidinoacetate methyltransferase deficiency.
DR MIM; 612736; phenotype.
DR MedGen; C0574080.
DR MeSH; D007805.
DR MeSH; D009069.
//
ID Cerebral creatine deficiency syndrome 3.
AC DI-01189
AR CCDS3.
DE An autosomal recessive disorder characterized by developmental
DE delay/regression, intellectual disability, severe disturbance of
DE expressive and cognitive speech, and severe depletion of
DE creatine/phosphocreatine in the brain. Most patients develop a
DE myopathy characterized by muscle weakness and atrophy later in life.
SY AGAT deficiency.
SY Arginine:glycine amidinotransferase deficiency.
SY Creatine deficiency syndrome due to AGAT deficiency.
SY GATM deficiency.
DR MIM; 612718; phenotype.
DR MedGen; C2675179.
DR MeSH; D000592.
DR MeSH; D008607.
//
ID Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome.
AC DI-00251
AR CEDNIK.
DE A neurocutaneous syndrome characterized by cerebral dysgenesis,
DE neuropathy, ichthyosis and palmoplantar keratoderma.
SY CEDNIK syndrome.
DR MIM; 609528; phenotype.
DR MedGen; C1836033.
DR MeSH; D007057.
DR MeSH; D007645.
DR MeSH; D020752.
KW KW-0622:Neuropathy.
KW KW-0977:Ichthyosis.
KW KW-1007:Palmoplantar keratoderma.
//
ID Cerebral palsy, spastic quadriplegic 1.
AC DI-01261
AR CPSQ1.
DE A non-progressive disorder of movement and/or posture resulting from
DE defects in the developing central nervous system. Affected individuals
DE manifest symmetrical, non-progressive spasticity and no adverse
DE perinatal history or obvious underlying alternative diagnosis.
DE Developmental delay, intellectual disability and sometimes epilepsy
DE can be part of the clinical picture.
SY Autosomal recessive symmetric spastic cerebral palsy 1.
DR MIM; 603513; phenotype.
DR MedGen; C1863793.
DR MedGen; C2751938.
DR MeSH; D002547.
//
ID Cerebral palsy, spastic quadriplegic 2.
AC DI-02559
AR CPSQ2.
DE A non-progressive disorder of movement and/or posture resulting from
DE defects in the developing central nervous system. Affected individuals
DE manifest congenital hypotonia evolving over the first year to spastic
DE quadriplegia with accompanying transient nystagmus and varying degrees
DE of intellectual disability. Neuroimaging shows brain atrophy and
DE ventriculomegaly.
DR MIM; 612900; phenotype.
DR MedGen; C2752061.
DR MeSH; D002547.
//
ID Cerebral palsy, spastic quadriplegic 3.
AC DI-04750
AR CPSQ3.
DE A form of cerebral palsy, a group of non-progressive disorders of
DE movement and/or posture resulting from defects in the developing
DE central nervous system. CPSQ3 is an autosomal recessive
DE neurodevelopmental disorder characterized by variable spasticity and
DE cognitive impairment.
DR MIM; 617008; phenotype.
DR MedGen; CN236830.
DR MeSH; D002547.
//
ID Cerebro-oculo-facio-skeletal syndrome 1.
AC DI-00258
AR COFS1.
DE A disorder of prenatal onset characterized by microcephaly, congenital
DE cataracts, facial dysmorphism, neurogenic arthrogryposis, growth
DE failure and severe psychomotor retardation. COFS is considered to be
DE part of the nucleotide-excision repair disorders spectrum that include
DE also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome.
SY COFS syndrome.
SY Pena-Shokeir syndrome type 2.
DR MIM; 214150; phenotype.
DR MedGen; C0220722.
DR MeSH; D001176.
DR MeSH; D002386.
DR MeSH; D005124.
DR MeSH; D008831.
//
ID Cerebro-oculo-facio-skeletal syndrome 2.
AC DI-00259
AR COFS2.
DE A disorder of prenatal onset characterized by microcephaly, congenital
DE cataracts, facial dysmorphism, neurogenic arthrogryposis, growth
DE failure and severe psychomotor retardation. COFS is considered to be
DE part of the nucleotide-excision repair disorders spectrum that include
DE also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome.
SY COFS syndrome.
DR MIM; 610756; phenotype.
DR MedGen; C1853102.
DR MeSH; D001176.
DR MeSH; D002386.
DR MeSH; D005124.
DR MeSH; D008831.
//
ID Cerebro-oculo-facio-skeletal syndrome 3.
AC DI-04514
AR COFS3.
DE A disorder of prenatal onset characterized by microcephaly, congenital
DE cataracts, facial dysmorphism, neurogenic arthrogryposis, growth
DE failure and severe psychomotor retardation. COFS is considered to be
DE part of the nucleotide-excision repair disorders spectrum that include
DE also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome.
DR MIM; 616570; phenotype.
DR MedGen; C1851443.
DR MeSH; D001176.
DR MeSH; D002386.
DR MeSH; D005124.
DR MeSH; D008831.
//
ID Cerebro-oculo-facio-skeletal syndrome 4.
AC DI-00260
AR COFS4.
DE A disorder of prenatal onset characterized by microcephaly, congenital
DE cataracts, facial dysmorphism, neurogenic arthrogryposis, growth
DE failure and severe psychomotor retardation. COFS is considered to be
DE part of the nucleotide-excision repair disorders spectrum that include
DE also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome.
SY COFS syndrome.
DR MIM; 610758; phenotype.
DR MedGen; C1853100.
DR MeSH; D001176.
DR MeSH; D002386.
DR MeSH; D005124.
DR MeSH; D008831.
//
ID Cerebrocostomandibular syndrome.
AC DI-04367
AR CCMS.
DE A syndrome characterized by severe micrognathia, rib defects ranging
DE from a few dorsal rib segments to complete absence of ossification,
DE and intellectual disability.
SY CCM syndrome.
SY Cerebro-costo-mandibular syndrome.
SY Rib gap defects with micrognathia.
DR MIM; 117650; phenotype.
DR MedGen; C0265342.
DR MeSH; D001848.
DR MeSH; D008607.
DR MeSH; D008844.
KW KW-0991:Intellectual disability.
//
ID Cerebroretinal microangiopathy with calcifications and cysts 1.
AC DI-03394
AR CRMCC1.
DE An autosomal recessive pleiomorphic disorder characterized primarily
DE by intracranial calcifications, leukodystrophy, and brain cysts,
DE resulting in spasticity, ataxia, dystonia, seizures, and cognitive
DE decline. Patients also have retinal telangiectasia and exudates (Coats
DE disease) as well as extraneurologic manifestations, including
DE osteopenia with poor bone healing and a high risk of gastrointestinal
DE bleeding and portal hypertension caused by vasculature ectasias in the
DE stomach, small intestine, and liver. Some individuals also have hair,
DE skin, and nail changes, as well as anemia and thrombocytopenia.
SY Coats plus syndrome.
DR MIM; 612199; phenotype.
DR MedGen; C2677299.
DR MeSH; D002114.
DR MeSH; D056784.
DR MeSH; D058456.
DR MeSH; D059345.
//
ID Cerebroretinal microangiopathy with calcifications and cysts 2.
AC DI-04949
AR CRMCC2.
DE An autosomal recessive, multisystemic disorder characterized by
DE intrauterine growth retardation and, later in life, premature aging
DE symptoms, including poor growth, graying hair, liver fibrosis, portal
DE hypertension, esophageal varices, osteopenia, pancytopenia,
DE hypocellular bone marrow, and vascular telangiectasia resulting in
DE gastrointestinal bleeding. Brain calcifications and white matter
DE changes are responsible for signs including spasticity, ataxia, or
DE dystonia observed in some patients.
DR MIM; 617341; phenotype.
DR MedGen; CN240513.
DR MeSH; D002114.
DR MeSH; D056784.
DR MeSH; D058456.
DR MeSH; D059345.
//
ID Cerebrotendinous xanthomatosis.
AC DI-01335
AR CTX.
DE Rare sterol storage disorder characterized clinically by progressive
DE neurologic dysfunction, premature atherosclerosis, and cataracts.
SY Cerebral cholesterinosis.
DR MIM; 213700; phenotype.
DR MedGen; C0238052.
DR MeSH; D019294.
//
ID Ceroid lipofuscinosis, neuronal, 1.
AC DI-00810
AR CLN1.
DE A form of neuronal ceroid lipofuscinosis with variable age at onset.
DE Infantile, late-infantile, juvenile, and adult onset have been
DE reported. Neuronal ceroid lipofuscinoses are progressive
DE neurodegenerative, lysosomal storage diseases characterized by
DE intracellular accumulation of autofluorescent liposomal material, and
DE clinically by seizures, dementia, visual loss, and/or cerebral
DE atrophy. The lipopigment pattern seen most often in CLN1 is referred
DE to as granular osmiophilic deposits (GROD).
SY Hagberg-Santavuori disease.
SY INCL.
SY Infantile neuronal ceroid lipofuscinosis.
SY Juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
SY Neuronal ceroid lipofuscinosis with variable age at onset.
SY Santavuori disease.
SY Santavuori-Haltia disease.
DR MIM; 256730; phenotype.
DR MedGen; C0268281.
DR MedGen; C1850451.
DR MedGen; C2931673.
DR MeSH; D009472.
KW KW-0525:Neuronal ceroid lipofuscinosis.
//
ID Ceroid lipofuscinosis, neuronal, 10.
AC DI-00818
AR CLN10.
DE A form of neuronal ceroid lipofuscinosis with onset at birth or early
DE childhood. Neuronal ceroid lipofuscinoses are progressive
DE neurodegenerative, lysosomal storage diseases characterized by
DE intracellular accumulation of autofluorescent liposomal material, and
DE clinically by seizures, dementia, visual loss, and/or cerebral
DE atrophy.
SY Congenital neuronal ceroid lipofuscinosis.
SY Neuronal ceroid lipofuscinosis cathepsin d-deficient.
SY Neuronal ceroid lipofuscinosis due to cathepsin D deficiency.
DR MIM; 610127; phenotype.
DR MedGen; C1864669.
DR MedGen; C1864670.
DR MeSH; D009472.
KW KW-0525:Neuronal ceroid lipofuscinosis.
//
ID Ceroid lipofuscinosis, neuronal, 11.
AC DI-03493
AR CLN11.
DE A form of neuronal ceroid lipofuscinosis characterized by rapidly
DE progressive visual loss due to retinal dystrophy, seizures, cerebellar
DE ataxia, and cerebellar atrophy. Cognitive decline may also occur.
DE Neuronal ceroid lipofuscinoses are progressive neurodegenerative,
DE lysosomal storage diseases characterized by intracellular accumulation
DE of autofluorescent liposomal material.
DR MIM; 614706; phenotype.
DR MedGen; C3539123.
DR MedGen; CN130362.
DR MeSH; D009472.
KW KW-0525:Neuronal ceroid lipofuscinosis.
//
ID Ceroid lipofuscinosis, neuronal, 13 (Kufs type).
AC DI-03853
AR CLN13.
DE A form of neuronal ceroid lipofuscinosis characterized by adult onset
DE of progressive cognitive decline and motor dysfunction leading to
DE dementia and often early death. Some patients develop seizures.
DE Neuronal ceroid lipofuscinoses are progressive neurodegenerative,
DE lysosomal storage diseases characterized by intracellular accumulation
DE of autofluorescent liposomal material. CLN13 inheritance is autosomal
DE recessive.
SY Neuronal ceroid lipofuscinosis 13 Kufs type.
DR MIM; 615362; phenotype.
DR MedGen; C3715049.
DR MedGen; CN178682.
DR MeSH; D009472.
KW KW-0525:Neuronal ceroid lipofuscinosis.
//
ID Ceroid lipofuscinosis, neuronal, 2.
AC DI-00811
AR CLN2.
DE A form of neuronal ceroid lipofuscinosis. Neuronal ceroid
DE lipofuscinoses are progressive neurodegenerative, lysosomal storage
DE diseases characterized by intracellular accumulation of
DE autofluorescent liposomal material, and clinically by seizures,
DE dementia, visual loss, and/or cerebral atrophy. The lipopigment
DE pattern seen most often in CLN2 consists of curvilinear profiles.
SY Jansky-Bielschowsky disease.
SY Late-infantile neuronal ceroid lipofuscinosis.
SY LINCL.
SY Neuronal ceroid lipofuscinosis 2 with variable age at onset.
DR MIM; 204500; phenotype.
DR MedGen; C0022340.
DR MedGen; C1876161.
DR MeSH; D009472.
KW KW-0525:Neuronal ceroid lipofuscinosis.
//
ID Ceroid lipofuscinosis, neuronal, 3.
AC DI-00812
AR CLN3.
DE A form of neuronal ceroid lipofuscinosis. Neuronal ceroid
DE lipofuscinoses are progressive neurodegenerative, lysosomal storage
DE diseases characterized by intracellular accumulation of
DE autofluorescent liposomal material, and clinically by seizures,
DE dementia, visual loss, and/or cerebral atrophy. The hallmark of CLN3
DE is the ultrastructural pattern of lipopigment with a fingerprint
DE profile, which can have 3 different appearances: pure within a
DE lysosomal residual body; in conjunction with curvilinear or
DE rectilinear profiles; and as a small component within large membrane-
DE bound lysosomal vacuoles. The combination of fingerprint profiles
DE within lysosomal vacuoles is a regular feature of blood lymphocytes
DE from patients with neuronal ceroid lipofuscinosis type 3.
SY Batten disease.
SY JNCL.
SY Juvenile neuronal ceroid lipofuscinosis.
SY Spielmeyer-Sjogren disease.
SY Vogt-Spielmeyer disease.
DR MIM; 204200; phenotype.
DR MedGen; C0751383.
DR MedGen; C2931674.
DR MeSH; D009472.
KW KW-0525:Neuronal ceroid lipofuscinosis.
//
ID Ceroid lipofuscinosis, neuronal, 4A (Kufs type), autosomal recessive.
AC DI-03163
AR CLN4A.
DE An adult-onset neuronal ceroid lipofuscinosis. Neuronal ceroid
DE lipofuscinoses are progressive neurodegenerative, lysosomal storage
DE diseases characterized by intracellular accumulation of
DE autofluorescent liposomal material, and clinically by seizures,
DE dementia, visual loss, and/or cerebral atrophy. CLN4A has no visual
DE involvement and is characterized by progressive myoclonic epilepsy.
SY Adult neuronal ceroid lipofuscinosis.
SY CLN6 disease Kufs type A.
SY Kufs disease.
SY Kufs disease autosomal recessive.
DR MIM; 204300; phenotype.
DR MedGen; C0022797.
DR MedGen; C2931675.
DR MeSH; D009472.
KW KW-0525:Neuronal ceroid lipofuscinosis.
//
ID Ceroid lipofuscinosis, neuronal, 4B (Kufs type), autosomal dominant.
AC DI-03226
AR CLN4B.
DE An adult-onset neuronal ceroid lipofuscinosis. Neuronal ceroid
DE lipofuscinoses are progressive neurodegenerative, lysosomal storage
DE diseases characterized by intracellular accumulation of
DE autofluorescent liposomal material, and clinically by seizures,
DE dementia, visual loss, and/or cerebral atrophy. CLN4B has no visual
DE involvement and is characterized by seizures and other neurologic
DE symptoms.
SY Kufs disease autosomal dominant.
SY Neuronal ceroid lipofuscinosis Parry type.
DR MIM; 162350; phenotype.
DR MedGen; C1834207.
DR MeSH; D009472.
KW KW-0525:Neuronal ceroid lipofuscinosis.
//
ID Ceroid lipofuscinosis, neuronal, 5.
AC DI-00813
AR CLN5.
DE A form of neuronal ceroid lipofuscinosis. Neuronal ceroid
DE lipofuscinoses are progressive neurodegenerative, lysosomal storage
DE diseases characterized by intracellular accumulation of
DE autofluorescent liposomal material, and clinically by seizures,
DE dementia, visual loss, and/or cerebral atrophy. The lipopigment
DE patterns observed most often in neuronal ceroid lipofuscinosis type 5
DE comprise mixed combinations of granular, curvilinear, and fingerprint
DE profiles.
SY Finnish.
SY Finnish variant late infantile neuronal ceroid lipofuscinosis.
SY Neuronal ceroid lipofuscinosis 5 with variable age at onset.
SY vLINCL.
DR MIM; 256731; phenotype.
DR MedGen; C1850442.
DR MeSH; D009472.
KW KW-0525:Neuronal ceroid lipofuscinosis.
//
ID Ceroid lipofuscinosis, neuronal, 6.
AC DI-00814
AR CLN6.
DE An autosomal recessive form of neuronal ceroid lipofuscinosis.
DE Neuronal ceroid lipofuscinoses are progressive neurodegenerative,
DE lysosomal storage diseases characterized by intracellular accumulation
DE of autofluorescent liposomal material, and clinically by seizures,
DE dementia, visual loss, and/or cerebral atrophy. The lipopigment
DE patterns observed most often in neuronal ceroid lipofuscinosis type 6
DE comprise mixed combinations of granular, curvilinear, and fingerprint
DE profiles.
SY Neuronal ceroid lipofuscinosis 6 with variable age at onset.
SY Variant late-onset infantile neuronal ceroid lipofuscinosis.
SY vLINCL.
DR MIM; 601780; phenotype.
DR MedGen; C1866282.
DR MeSH; D009472.
KW KW-0525:Neuronal ceroid lipofuscinosis.
//
ID Ceroid lipofuscinosis, neuronal, 7.
AC DI-00815
AR CLN7.
DE A form of neuronal ceroid lipofuscinosis with onset in early
DE childhood. Neuronal ceroid lipofuscinoses are progressive
DE neurodegenerative, lysosomal storage diseases characterized by
DE intracellular accumulation of autofluorescent liposomal material, and
DE clinically by seizures, dementia, visual loss, and/or cerebral
DE atrophy. The lipopigment patterns observed most often in neuronal
DE ceroid lipofuscinosis type 7 comprise mixed combinations of granular,
DE curvilinear, fingerprint, and rectilinear profiles.
SY Turkish variant late infantile NCL.
DR MIM; 610951; phenotype.
DR MedGen; C1838571.
DR MeSH; D009472.
KW KW-0525:Neuronal ceroid lipofuscinosis.
//
ID Ceroid lipofuscinosis, neuronal, 8.
AC DI-00816
AR CLN8.
DE A form of neuronal ceroid lipofuscinosis with onset in childhood.
DE Neuronal ceroid lipofuscinoses are progressive neurodegenerative,
DE lysosomal storage diseases characterized by intracellular accumulation
DE of autofluorescent liposomal material, and clinically by seizures,
DE dementia, visual loss, and/or cerebral atrophy. The lipopigment
DE patterns observed most often in neuronal ceroid lipofuscinosis type 8
DE comprise mixed combinations of granular, curvilinear, and fingerprint
DE profiles.
SY Turkish variant late infantile NCL.
DR MIM; 600143; phenotype.
DR MedGen; C1838570.
DR MeSH; D009472.
KW KW-0525:Neuronal ceroid lipofuscinosis.
//
ID Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant.
AC DI-00817
AR CLN8NE.
DE A form of neuronal ceroid lipofuscinosis clinically characterized by
DE epilepsy that presents between 5 and 10 years of age with frequent
DE tonic-clonic seizures followed by progressive intellectual disability.
DE Visual loss is not a prominent feature. Intracellular accumulation of
DE autofluorescent material results in curvilinear and granular profiles
DE on ultrastructural analysis.
SY EPMR.
DR MIM; 610003; phenotype.
DR MedGen; C1864923.
DR MeSH; D009472.
KW KW-0525:Neuronal ceroid lipofuscinosis.
KW KW-0887:Epilepsy.
//
ID Cervical cancer.
AC DI-02838
AR CERCA.
DE A malignant neoplasm of the cervix, typically originating from a
DE dysplastic or premalignant lesion previously present at the active
DE squamocolumnar junction. The transformation from mild dysplastic to
DE invasive carcinoma generally occurs slowly within several years,
DE although the rate of this process varies widely. Carcinoma in situ is
DE particularly known to precede invasive cervical cancer in most cases.
DE Cervical cancer is strongly associated with infection by oncogenic
DE types of human papillomavirus.
SY Cervix cancer.
SY Uterine cervical cancer.
DR MIM; 603956; phenotype.
DR MedGen; C0302592.
DR MeSH; D002583.
//
ID CFHR5 deficiency.
AC DI-03555
AR CFHR5D.
DE A progressive disease characterized by glomerulonephritis, hematuria,
DE renal failure, end-stage renal disease, subendothelial and mesangial
DE glomerular C3 deposits, mesangial matrix expansion, increased
DE glomerular cellularity, and segmental capillary wall thickening.
DE Hematuria may become apparent after respiratory infections.
SY Nephropathy due to CFHR5 deficiency.
DR MIM; 614809; phenotype.
DR MedGen; C3553720.
DR MedGen; CN158539.
DR MeSH; D005921.
//
ID Chanarin-Dorfman syndrome.
AC DI-00262
AR CDS.
DE An autosomal recessive inborn error of lipid metabolism with
DE multisystemic accumulation of triglycerides although plasma
DE concentrations are normal. Clinical characteristics are congenital
DE generalized ichthyosis, vacuolated leukocytes, hepatomegaly, myopathy,
DE cataracts, neurosensory hearing loss and developmental delay. The
DE disorder presents at birth with generalized, fine, white scaling of
DE the skin and a variable degree of erythema resembling non-bullous
DE congenital ichthyosiform erythroderma.
SY DCS.
SY Dorfman-Chanarin syndrome.
SY Ichthyosiform erythroderma with leukocyte vacuolation.
SY Ichthyotic neutral lipid storage disease.
SY Neutral lipid storage disease with ichthyosis.
SY Triglyceride storage disease with impaired long-chain fatty acid oxidation.
DR MIM; 275630; phenotype.
DR MedGen; C0268238.
DR MeSH; D008052.
DR MeSH; D016113.
KW KW-0209:Deafness.
KW KW-0898:Cataract.
KW KW-0977:Ichthyosis.
//
ID CHAND syndrome.
AC DI-05366
AR CHANDS.
DE An autosomal recessive syndrome characterized by ankyloblepharon,
DE sparse, curly and woolly hair, nail dysplasia, and oral frenula.
SY Curly hair, ankyloblepharon, nail dysplasia syndrome.
DR MIM; 214350; phenotype.
DR MedGen; C0406733.
DR MeSH; D004476.
DR MeSH; D005141.
DR MeSH; D006201.
DR MeSH; D009264.
KW KW-0038:Ectodermal dysplasia.
//
ID Char syndrome.
AC DI-00294
AR CHAR.
DE An autosomal dominant disorder characterized by patent ductus
DE arteriosus (PDA), facial dysmorphism and hand anomalies.
DR MIM; 169100; phenotype.
DR MedGen; C1868570.
DR MeSH; D004374.
//
ID Charcot-Marie-Tooth disease 1A.
AC DI-00268
AR CMT1A.
DE A dominant demyelinating form of Charcot-Marie-Tooth disease, a
DE disorder of the peripheral nervous system, characterized by
DE progressive weakness and atrophy, initially of the peroneal muscles
DE and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE disease is classified in two main groups on the basis of
DE electrophysiologic properties and histopathology: primary peripheral
DE demyelinating neuropathies (designated CMT1 when they are dominantly
DE inherited) and primary peripheral axonal neuropathies (CMT2).
DE Demyelinating neuropathies are characterized by severely reduced nerve
DE conduction velocities (less than 38 m/sec), segmental demyelination
DE and remyelination with onion bulb formations on nerve biopsy, slowly
DE progressive distal muscle atrophy and weakness, absent deep tendon
DE reflexes, and hollow feet.
SY Charcot-Marie-Tooth disease demyelinating type 1A.
SY Charcot-Marie-Tooth disease slow nerve conduction type unlinked to Duffy.
SY Charcot-Marie-Tooth neuropathy type 1A.
SY Hereditary motor and sensory neuropathy IA.
SY HMSN1A.
SY HMSN IA.
DR MIM; 118220; phenotype.
DR MedGen; C0270911.
DR MedGen; CN069173.
DR MeSH; D002607.
DR MeSH; D015417.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 1B.
AC DI-00269
AR CMT1B.
DE A dominant demyelinating form of Charcot-Marie-Tooth disease, a
DE disorder of the peripheral nervous system, characterized by
DE progressive weakness and atrophy, initially of the peroneal muscles
DE and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE disease is classified in two main groups on the basis of
DE electrophysiologic properties and histopathology: primary peripheral
DE demyelinating neuropathies (designated CMT1 when they are dominantly
DE inherited) and primary peripheral axonal neuropathies (CMT2).
DE Demyelinating neuropathies are characterized by severely reduced nerve
DE conduction velocities (less than 38 m/sec), segmental demyelination
DE and remyelination with onion bulb formations on nerve biopsy, slowly
DE progressive distal muscle atrophy and weakness, absent deep tendon
DE reflexes, and hollow feet.
SY Charcot-Marie-Tooth disease demyelinating type 1B.
SY Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy.
SY Charcot-Marie-Tooth neuropathy type 1B.
SY Hereditary motor and sensory neuropathy IB.
SY HMSN1B.
SY HMSN IB.
SY Peroneal muscular atrophy.
DR MIM; 118200; phenotype.
DR MedGen; C0270912.
DR MeSH; D002607.
DR MeSH; D015417.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 1C.
AC DI-00270
AR CMT1C.
DE A dominant demyelinating form of Charcot-Marie-Tooth disease, a
DE disorder of the peripheral nervous system, characterized by
DE progressive weakness and atrophy, initially of the peroneal muscles
DE and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE disease is classified in two main groups on the basis of
DE electrophysiologic properties and histopathology: primary peripheral
DE demyelinating neuropathies (designated CMT1 when they are dominantly
DE inherited) and primary peripheral axonal neuropathies (CMT2).
DE Demyelinating neuropathies are characterized by severely reduced nerve
DE conduction velocities (less than 38 m/sec), segmental demyelination
DE and remyelination with onion bulb formations on nerve biopsy, slowly
DE progressive distal muscle atrophy and weakness, absent deep tendon
DE reflexes, and hollow feet.
SY Charcot-Marie-Tooth disease demyelinating type 1C.
SY Charcot-Marie-Tooth neuropathy type 1C.
SY Hereditary motor and sensory neuropathy IC.
SY HMSN1C.
SY HMSN IC.
DR MIM; 601098; phenotype.
DR MedGen; C0270913.
DR MedGen; C1832775.
DR MedGen; CN068843.
DR MedGen; CN068844.
DR MeSH; D002607.
DR MeSH; D015417.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 1D.
AC DI-00271
AR CMT1D.
DE A dominant demyelinating form of Charcot-Marie-Tooth disease, a
DE disorder of the peripheral nervous system, characterized by
DE progressive weakness and atrophy, initially of the peroneal muscles
DE and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE disease is classified in two main groups on the basis of
DE electrophysiologic properties and histopathology: primary peripheral
DE demyelinating neuropathies (designated CMT1 when they are dominantly
DE inherited) and primary peripheral axonal neuropathies (CMT2).
DE Demyelinating neuropathies are characterized by severely reduced nerve
DE conduction velocities (less than 38 m/sec), segmental demyelination
DE and remyelination with onion bulb formations on nerve biopsy, slowly
DE progressive distal muscle atrophy and weakness, absent deep tendon
DE reflexes, and hollow feet.
SY Charcot-Marie-Tooth disease demyelinating type 1D.
SY Charcot-Marie-Tooth neuropathy type 1D.
SY Hereditary motor and sensory neuropathy ID.
SY HMSN1D.
SY HMSN ID.
DR MIM; 607678; phenotype.
DR MedGen; C1843247.
DR MeSH; D002607.
DR MeSH; D015417.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 1E.
AC DI-00272
AR CMT1E.
DE An autosomal dominant form of Charcot-Marie-Tooth disease
DE characterized by the association of sensorineural hearing loss with
DE peripheral demyelinating neuropathy.
SY Charcot-Marie-Tooth disease and deafness autosomal dominant.
SY Charcot-Marie-Tooth disease demyelinating type 1E.
SY Charcot-Marie-Tooth neuropathy type 1E.
DR MIM; 118300; phenotype.
DR MedGen; C1861669.
DR MedGen; C3495591.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 1F.
AC DI-00273
AR CMT1F.
DE A dominant demyelinating form of Charcot-Marie-Tooth disease, a
DE disorder of the peripheral nervous system, characterized by
DE progressive weakness and atrophy, initially of the peroneal muscles
DE and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE disease is classified in two main groups on the basis of
DE electrophysiologic properties and histopathology: primary peripheral
DE demyelinating neuropathies (designated CMT1 when they are dominantly
DE inherited) and primary peripheral axonal neuropathies (CMT2).
DE Demyelinating neuropathies are characterized by severely reduced nerve
DE conduction velocities (less than 38 m/sec), segmental demyelination
DE and remyelination with onion bulb formations on nerve biopsy, slowly
DE progressive distal muscle atrophy and weakness, absent deep tendon
DE reflexes, and hollow feet. CMT1F is characterized by onset in infancy
DE or childhood (range 1 to 13 years).
SY Charcot-Marie-Tooth disease demyelinating type 1F.
SY Charcot-Marie-Tooth neuropathy type 1F.
DR MIM; 607734; phenotype.
DR MedGen; C1843164.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 2A1.
AC DI-00274
AR CMT2A1.
DE A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of
DE the peripheral nervous system, characterized by progressive weakness
DE and atrophy, initially of the peroneal muscles and later of the distal
DE muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE main groups on the basis of electrophysiologic properties and
DE histopathology: primary peripheral demyelinating neuropathies
DE (designated CMT1 when they are dominantly inherited) and primary
DE peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE are characterized by signs of axonal degeneration in the absence of
DE obvious myelin alterations, normal or slightly reduced nerve
DE conduction velocities, and progressive distal muscle weakness and
DE atrophy.
SY Charcot-Marie-Tooth disease axonal type 2A1.
SY Charcot-Marie-Tooth disease neuronal type 2A1.
SY Charcot-Marie-Tooth neuropathy type 2A1.
SY Hereditary motor and sensory neuropathy IIA1.
SY HMSN2A1.
SY HMSN IIA1.
DR MIM; 118210; phenotype.
DR MedGen; C1861678.
DR MeSH; D002607.
DR MeSH; D015417.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 2A2A.
AC DI-00275
AR CMT2A2A.
DE An axonal form of Charcot-Marie-Tooth disease, a disorder of the
DE peripheral nervous system, characterized by progressive weakness and
DE atrophy, initially of the peroneal muscles and later of the distal
DE muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE main groups on the basis of electrophysiologic properties and
DE histopathology: primary peripheral demyelinating neuropathies
DE (designated CMT1 when they are dominantly inherited) and primary
DE peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE are characterized by signs of axonal degeneration in the absence of
DE obvious myelin alterations, normal or slightly reduced nerve
DE conduction velocities, and progressive distal muscle weakness and
DE atrophy.
SY Charcot-Marie-Tooth disease axonal type 2A2.
SY Charcot-Marie-Tooth disease neuronal type 2A2.
SY Charcot-Marie-Tooth neuropathy type 2A2.
SY CMT2A2.
SY Hereditary motor and sensory neuropathy IIA2.
SY HMSN2A2.
SY HMSN IIA2.
DR MIM; 609260; phenotype.
DR MedGen; C1836485.
DR MeSH; D002607.
DR MeSH; D015417.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 2A2B.
AC DI-04811
AR CMT2A2B.
DE An axonal form of Charcot-Marie-Tooth disease, a disorder of the
DE peripheral nervous system, characterized by progressive weakness and
DE atrophy, initially of the peroneal muscles and later of the distal
DE muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE main groups on the basis of electrophysiologic properties and
DE histopathology: primary peripheral demyelinating neuropathies
DE (designated CMT1 when they are dominantly inherited) and primary
DE peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE are characterized by signs of axonal degeneration in the absence of
DE obvious myelin alterations, normal or slightly reduced nerve
DE conduction velocities, and progressive distal muscle weakness and
DE atrophy. CMT2A2B is a severe form with autosomal recessive
DE inheritance.
SY Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B.
SY Charcot-Marie-Tooth disease, axonal, type 2A2B.
DR MIM; 617087; phenotype.
DR MedGen; CN238096.
DR MeSH; D002607.
DR MeSH; D015417.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 2B.
AC DI-00276
AR CMT2B.
DE A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of
DE the peripheral nervous system, characterized by progressive weakness
DE and atrophy, initially of the peroneal muscles and later of the distal
DE muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE main groups on the basis of electrophysiologic properties and
DE histopathology: primary peripheral demyelinating neuropathies
DE (designated CMT1 when they are dominantly inherited) and primary
DE peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE are characterized by signs of axonal degeneration in the absence of
DE obvious myelin alterations, normal or slightly reduced nerve
DE conduction velocities, and progressive distal muscle weakness and
DE atrophy.
SY Charcot-Marie-Tooth disease axonal type 2B.
SY Charcot-Marie-Tooth disease neuronal type 2B.
SY Charcot-Marie-Tooth neuropathy type 2B.
SY Hereditary motor and sensory neuropathy IIB.
SY HMSN2B.
SY HMSN IIB.
SY Peripheral sensory neuropathy autosomal dominant.
SY PSN.
DR MIM; 600882; phenotype.
DR MedGen; C1833219.
DR MeSH; D002607.
DR MeSH; D015417.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 2B1.
AC DI-00277
AR CMT2B1.
DE A recessive axonal form of Charcot-Marie-Tooth disease, a disorder of
DE the peripheral nervous system, characterized by progressive weakness
DE and atrophy, initially of the peroneal muscles and later of the distal
DE muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE main groups on the basis of electrophysiologic properties and
DE histopathology: primary peripheral demyelinating neuropathies
DE (designated CMT1 when they are dominantly inherited) and primary
DE peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE are characterized by signs of axonal degeneration in the absence of
DE obvious myelin alterations, normal or slightly reduced nerve
DE conduction velocities, and progressive distal muscle weakness and
DE atrophy.
SY Charcot-Marie-Tooth disease axonal autosomal recessive B1.
SY Charcot-Marie-Tooth disease axonal type 2B1.
SY Charcot-Marie-Tooth disease neuronal type 2B1.
SY Charcot-Marie-Tooth neuropathy type 2B1.
DR MIM; 605588; phenotype.
DR MedGen; C1854154.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 2B2.
AC DI-02671
AR CMT2B2.
DE A recessive axonal form of Charcot-Marie-Tooth disease, a disorder of
DE the peripheral nervous system, characterized by progressive weakness
DE and atrophy, initially of the peroneal muscles and later of the distal
DE muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE main groups on the basis of electrophysiologic properties and
DE histopathology: primary peripheral demyelinating neuropathies
DE (designated CMT1 when they are dominantly inherited) and primary
DE peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE are characterized by signs of axonal degeneration in the absence of
DE obvious myelin alterations, normal or slightly reduced nerve
DE conduction velocities, and progressive distal muscle weakness and
DE atrophy.
SY ARCMT2B.
SY Charcot-Marie-Tooth disease axonal autosomal recessive B2.
SY Charcot-Marie-Tooth disease axonal type 2B2.
SY Charcot-Marie-Tooth disease neuronal type 2B2.
SY Charcot-Marie-Tooth neuropathy type 2B2.
DR MIM; 605589; phenotype.
DR MedGen; C1854150.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 2C.
AC DI-02687
AR CMT2C.
DE An axonal form of Charcot-Marie-Tooth disease, a disorder of the
DE peripheral nervous system, characterized by progressive weakness and
DE atrophy, initially of the peroneal muscles and later of the distal
DE muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE main groups on the basis of electrophysiologic properties and
DE histopathology: primary peripheral demyelinating neuropathies
DE (designated CMT1 when they are dominantly inherited) and primary
DE peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE are characterized by signs of axonal degeneration in the absence of
DE obvious myelin alterations, normal or slightly reduced nerve
DE conduction velocities, and progressive distal muscle weakness and
DE atrophy.
SY Charcot-Marie-Tooth disease axonal autosomal dominant 2C.
SY Charcot-Marie-Tooth disease axonal type 2C.
SY Charcot-Marie-Tooth neuropathy type 2C.
SY Hereditary motor and sensory neuropathy type IIC.
SY HMSN2C.
SY HMSN IIC.
DR MIM; 606071; phenotype.
DR MedGen; C1853710.
DR MedGen; C2079540.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 2CC.
AC DI-04709
AR CMT2CC.
DE An axonal form of Charcot-Marie-Tooth disease, a disorder of the
DE peripheral nervous system, characterized by progressive weakness and
DE atrophy, initially of the peroneal muscles and later of the distal
DE muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE main groups on the basis of electrophysiologic properties and
DE histopathology: primary peripheral demyelinating neuropathies
DE (designated CMT1 when they are dominantly inherited) and primary
DE peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE are characterized by signs of axonal degeneration in the absence of
DE obvious myelin alterations, normal or slightly reduced nerve
DE conduction velocities, and progressive distal muscle weakness and
DE atrophy.
SY Charcot-Marie-Tooth disease, axonal, type 2CC.
SY Charcot-Marie-Tooth neuropathy, type 2CC.
DR MIM; 616924; phenotype.
DR MedGen; CN236395.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 2D.
AC DI-00278
AR CMT2D.
DE A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of
DE the peripheral nervous system, characterized by progressive weakness
DE and atrophy, initially of the peroneal muscles and later of the distal
DE muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE main groups on the basis of electrophysiologic properties and
DE histopathology: primary peripheral demyelinating neuropathies
DE (designated CMT1 when they are dominantly inherited) and primary
DE peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE are characterized by signs of axonal degeneration in the absence of
DE obvious myelin alterations, normal or slightly reduced nerve
DE conduction velocities, and progressive distal muscle weakness and
DE atrophy.
SY Charcot-Marie-Tooth disease axonal type 2D.
SY Charcot-Marie-Tooth disease neuronal type 2D.
SY Charcot-Marie-Tooth neuropathy type 2D.
DR MIM; 601472; phenotype.
DR MedGen; C1832274.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 2DD.
AC DI-05276
AR CMT2DD.
DE A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of
DE the peripheral nervous system, characterized by progressive weakness
DE and atrophy, initially of the peroneal muscles and later of the distal
DE muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE main groups on the basis of electrophysiologic properties and
DE histopathology: primary peripheral demyelinating neuropathies
DE (designated CMT1 when they are dominantly inherited) and primary
DE peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE are characterized by signs of axonal degeneration in the absence of
DE obvious myelin alterations, normal or slightly reduced nerve
DE conduction velocities, and progressive distal muscle weakness and
DE atrophy.
SY Charcot-Marie-Tooth disease, axonal, type 2DD.
SY Charcot-Marie-Tooth neuropathy, type 2DD.
DR MIM; 618036; phenotype.
DR MedGen; CN248781.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 2E.
AC DI-00279
AR CMT2E.
DE A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of
DE the peripheral nervous system, characterized by progressive weakness
DE and atrophy, initially of the peroneal muscles and later of the distal
DE muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE main groups on the basis of electrophysiologic properties and
DE histopathology: primary peripheral demyelinating neuropathies
DE (designated CMT1 when they are dominantly inherited) and primary
DE peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE are characterized by signs of axonal degeneration in the absence of
DE obvious myelin alterations, normal or slightly reduced nerve
DE conduction velocities, and progressive distal muscle weakness and
DE atrophy.
SY Charcot-Marie-Tooth disease axonal type 2E.
SY Charcot-Marie-Tooth disease neuronal type 2E.
SY Charcot-Marie-Tooth neuropathy type 2E.
DR MIM; 607684; phenotype.
DR MedGen; C1843225.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 2F.
AC DI-00280
AR CMT2F.
DE A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of
DE the peripheral nervous system, characterized by progressive weakness
DE and atrophy, initially of the peroneal muscles and later of the distal
DE muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE main groups on the basis of electrophysiologic properties and
DE histopathology: primary peripheral demyelinating neuropathies
DE (designated CMT1 when they are dominantly inherited) and primary
DE peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE are characterized by signs of axonal degeneration in the absence of
DE obvious myelin alterations, normal or slightly reduced nerve
DE conduction velocities, and progressive distal muscle weakness and
DE atrophy. Onset of Charcot-Marie-Tooth disease type 2F is between 15
DE and 25 years with muscle weakness and atrophy usually beginning in
DE feet and legs (peroneal distribution). Upper limb involvement occurs
DE later.
SY Charcot-Marie-Tooth disease axonal type 2F.
SY Charcot-Marie-Tooth disease neuronal type 2F.
SY Charcot-Marie-Tooth neuropathy type 2F.
DR MIM; 606595; phenotype.
DR MedGen; C1847823.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 2FF.
AC DI-06222
AR CMT2FF.
DE A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of
DE the peripheral nervous system, characterized by progressive weakness
DE and atrophy, initially of the peroneal muscles and later of the distal
DE muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE main groups on the basis of electrophysiologic properties and
DE histopathology: primary peripheral demyelinating neuropathies
DE (designated CMT1 when they are dominantly inherited) and primary
DE peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE are characterized by signs of axonal degeneration in the absence of
DE obvious myelin alterations, normal or slightly reduced nerve
DE conduction velocities, and progressive distal muscle weakness and
DE atrophy. CMT2FF is characterized by early-childhood onset of
DE difficulties walking or running due to atrophy and weakness of the
DE lower limbs. Some patients lose independent ambulation. There is also
DE prominent involvement of the upper limbs.
SY Charcot-Marie-Tooth disease, axonal, type 2FF.
SY Charcot-Marie-Tooth neuropathy, type 2FF.
DR MIM; 619519; phenotype.
DR MedGen; CN300474.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 2HH.
AC DI-06245
AR CMT2HH.
DE An autosomal dominant, axonal form of Charcot-Marie-Tooth disease, a
DE disorder of the peripheral nervous system characterized by progressive
DE weakness and atrophy, initially of the peroneal muscles and later of
DE the distal muscles of the arms. Charcot-Marie-Tooth disease is
DE classified in two main groups on the basis of electrophysiologic
DE properties and histopathology: primary peripheral demyelinating
DE neuropathies (designated CMT1 when they are dominantly inherited) and
DE primary peripheral axonal neuropathies (CMT2). Neuropathies of the
DE CMT2 group are characterized by signs of axonal degeneration in the
DE absence of obvious myelin alterations, normal or slightly reduced
DE nerve conduction velocities, and progressive distal muscle weakness
DE and atrophy. CMT2HH is characterized by vocal fold paresis that
DE remains throughout life and may be severe. Additional features include
DE pes cavus, scoliosis, distal sensory impairment with hyporeflexia,
DE mild distal muscle weakness and atrophy primarily affecting the lower
DE limbs, although the upper limbs may also be involved.
SY Charcot-Marie-Tooth disease, axonal, type 2HH.
SY Charcot-Marie-Tooth neuropathy, type 2HH.
DR MIM; 619574; phenotype.
DR MedGen; CN301079.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 2I.
AC DI-00281
AR CMT2I.
DE A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of
DE the peripheral nervous system, characterized by progressive weakness
DE and atrophy, initially of the peroneal muscles and later of the distal
DE muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE main groups on the basis of electrophysiologic properties and
DE histopathology: primary peripheral demyelinating neuropathies
DE (designated CMT1 when they are dominantly inherited) and primary
DE peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE are characterized by signs of axonal degeneration in the absence of
DE obvious myelin alterations, normal or slightly reduced nerve
DE conduction velocities, and progressive distal muscle weakness and
DE atrophy.
SY Charcot-Marie-Tooth disease axonal type 2I.
SY Charcot-Marie-Tooth disease neuronal type 2I.
SY Charcot-Marie-Tooth neuropathy type 2I.
DR MIM; 607677; phenotype.
DR MedGen; C1843251.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 2J.
AC DI-00282
AR CMT2J.
DE A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of
DE the peripheral nervous system, characterized by progressive weakness
DE and atrophy, initially of the peroneal muscles and later of the distal
DE muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE main groups on the basis of electrophysiologic properties and
DE histopathology: primary peripheral demyelinating neuropathies
DE (designated CMT1 when they are dominantly inherited) and primary
DE peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE are characterized by signs of axonal degeneration in the absence of
DE obvious myelin alterations, normal or slightly reduced nerve
DE conduction velocities, and progressive distal muscle weakness and
DE atrophy. Charcot-Marie-Tooth disease type 2J is characterized by the
DE association of axonal peripheral neuropathy with hearing loss and
DE pupillary abnormalities such as Adie pupil.
SY Charcot-Marie-Tooth disease axonal type 2J.
SY Charcot-Marie-Tooth disease neuronal type 2J.
SY Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities.
SY Charcot-Marie-Tooth neuropathy type 2J.
DR MIM; 607736; phenotype.
DR MedGen; C1843153.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0209:Deafness.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 2K.
AC DI-00283
AR CMT2K.
DE An axonal form of Charcot-Marie-Tooth disease, a disorder of the
DE peripheral nervous system, characterized by progressive weakness and
DE atrophy, initially of the peroneal muscles and later of the distal
DE muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE main groups on the basis of electrophysiologic properties and
DE histopathology: primary peripheral demyelinating neuropathies
DE (designated CMT1 when they are dominantly inherited) and primary
DE peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE are characterized by signs of axonal degeneration in the absence of
DE obvious myelin alterations, normal or slightly reduced nerve
DE conduction velocities, and progressive distal muscle weakness and
DE atrophy. Charcot-Marie-Tooth disease type 2K onset is in early
DE childhood (younger than 3 years). This phenotype is characterized by
DE foot deformities, kyphoscoliosis, distal limb muscle weakness and
DE atrophy, areflexia, and diminished sensation in the lower limbs.
DE Weakness in the upper limbs is observed in the first decade, with
DE clawing of the fingers. Inheritance can be autosomal dominant or
DE recessive.
SY Charcot-Marie-Tooth disease axonal type 2K.
SY Charcot-Marie-Tooth disease neuronal type 2K.
SY Charcot-Marie-Tooth neuropathy type 2K.
DR MIM; 607831; phenotype.
DR MedGen; C1842983.
DR MedGen; C1842984.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 2L.
AC DI-00284
AR CMT2L.
DE An axonal form of Charcot-Marie-Tooth disease, a disorder of the
DE peripheral nervous system, characterized by progressive weakness and
DE atrophy, initially of the peroneal muscles and later of the distal
DE muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE main groups on the basis of electrophysiologic properties and
DE histopathology: primary peripheral demyelinating neuropathies
DE (designated CMT1 when they are dominantly inherited) and primary
DE peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE are characterized by signs of axonal degeneration in the absence of
DE obvious myelin alterations, normal or slightly reduced nerve
DE conduction velocities, and progressive distal muscle weakness and
DE atrophy.
SY Charcot-Marie-Tooth disease axonal autosomal dominant type 2L.
SY Charcot-Marie-Tooth disease axonal type 2L.
SY Charcot-Marie-Tooth disease neuronal type 2L.
SY Charcot-Marie-Tooth neuropathy type 2L.
DR MIM; 608673; phenotype.
DR MedGen; C1837552.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 2M.
AC DI-03481
AR CMT2M.
DE An axonal form of Charcot-Marie-Tooth disease, a disorder of the
DE peripheral nervous system, characterized by progressive weakness and
DE atrophy, initially of the peroneal muscles and later of the distal
DE muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE main groups on the basis of electrophysiologic properties and
DE histopathology: primary peripheral demyelinating neuropathies
DE (designated CMT1 when they are dominantly inherited) and primary
DE peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE are characterized by signs of axonal degeneration in the absence of
DE obvious myelin alterations, normal or slightly reduced nerve
DE conduction velocities, and progressive distal muscle weakness and
DE atrophy.
SY Charcot-Marie-Tooth disease axonal autosomal dominant type 2M.
SY Charcot-Marie-Tooth disease axonal type 2M.
SY Charcot-Marie-Tooth neuropathy axonal type 2M.
DR MIM; 606482; phenotype.
DR MedGen; C2751364.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 2N.
AC DI-02678
AR CMT2N.
DE An axonal form of Charcot-Marie-Tooth disease, a disorder of the
DE peripheral nervous system, characterized by progressive weakness and
DE atrophy, initially of the peroneal muscles and later of the distal
DE muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE main groups on the basis of electrophysiologic properties and
DE histopathology: primary peripheral demyelinating neuropathies
DE (designated CMT1 when they are dominantly inherited) and primary
DE peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE are characterized by signs of axonal degeneration in the absence of
DE obvious myelin alterations, normal or slightly reduced nerve
DE conduction velocities, and progressive distal muscle weakness and
DE atrophy.
SY Charcot-Marie-Tooth disease axonal autosomal dominant type 2N.
SY Charcot-Marie-Tooth disease axonal type 2N.
SY Charcot-Marie-Tooth neuropathy axonal type 2N.
DR MIM; 613287; phenotype.
DR MedGen; C2750090.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 2O.
AC DI-03264
AR CMT2O.
DE An axonal form of Charcot-Marie-Tooth disease, a disorder of the
DE peripheral nervous system, characterized by progressive weakness and
DE atrophy, initially of the peroneal muscles and later of the distal
DE muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE main groups on the basis of electrophysiologic properties and
DE histopathology: primary peripheral demyelinating neuropathies
DE (designated CMT1 when they are dominantly inherited) and primary
DE peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE are characterized by signs of axonal degeneration in the absence of
DE obvious myelin alterations, normal or slightly reduced nerve
DE conduction velocities, and progressive distal muscle weakness and
DE atrophy.
SY Charcot-Marie-Tooth disease axonal autosomal dominant type 2O.
SY Charcot-Marie-Tooth disease axonal type 2O.
SY Charcot-Marie-Tooth neuropathy axonal type 2O.
DR MIM; 614228; phenotype.
DR MedGen; C3280220.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 2P.
AC DI-03339
AR CMT2P.
DE An axonal form of Charcot-Marie-Tooth disease, a disorder of the
DE peripheral nervous system, characterized by progressive weakness and
DE atrophy, initially of the peroneal muscles and later of the distal
DE muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE main groups on the basis of electrophysiologic properties and
DE histopathology: primary peripheral demyelinating neuropathies
DE (designated CMT1 when they are dominantly inherited) and primary
DE peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE are characterized by signs of axonal degeneration in the absence of
DE obvious myelin alterations, normal or slightly reduced nerve
DE conduction velocities, and progressive distal muscle weakness and
DE atrophy.
SY Charcot-Marie-Tooth disease, axonal type 2G.
SY Charcot-Marie-Tooth disease axonal type 2P.
SY Charcot-Marie-Tooth neuropathy axonal type 2P.
SY CMT2G.
DR MIM; 614436; phenotype.
DR MedGen; C3280797.
DR MedGen; CN120583.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 2Q.
AC DI-03672
AR CMT2Q.
DE An axonal form of Charcot-Marie-Tooth disease, a disorder of the
DE peripheral nervous system, characterized by progressive weakness and
DE atrophy, initially of the peroneal muscles and later of the distal
DE muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE main groups on the basis of electrophysiologic properties and
DE histopathology: primary peripheral demyelinating neuropathies
DE (designated CMT1 when they are dominantly inherited) and primary
DE peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE are characterized by signs of axonal degeneration in the absence of
DE obvious myelin alterations, normal or slightly reduced nerve
DE conduction velocities, and progressive distal muscle weakness and
DE atrophy.
SY Charcot-Marie-Tooth disease axonal autosomal dominant type 2Q.
SY Charcot-Marie-Tooth disease axonal type 2Q.
SY Charcot-Marie-Tooth neuropathy, type 2Q.
SY Charcot-Marie-Tooth neuropathy axonal type 2Q.
DR MIM; 615025; phenotype.
DR MedGen; C3554366.
DR MedGen; CN164583.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 2R.
AC DI-03924
AR CMT2R.
DE An axonal form of Charcot-Marie-Tooth disease, a disorder of the
DE peripheral nervous system, characterized by progressive weakness and
DE atrophy, initially of the peroneal muscles and later of the distal
DE muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE main groups on the basis of electrophysiologic properties and
DE histopathology: primary peripheral demyelinating neuropathies
DE (designated CMT1 when they are dominantly inherited) and primary
DE peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE are characterized by signs of axonal degeneration in the absence of
DE obvious myelin alterations, normal or slightly reduced nerve
DE conduction velocities, and progressive distal muscle weakness and
DE atrophy.
SY Autosomal recessive Charcot-Marie-Tooth disease axonal type 2R.
SY Charcot-Marie-Tooth disease axonal type 2R.
SY Charcot-Marie-Tooth neuropathy, type 2R.
SY Charcot-Marie-Tooth neuropathy axonal type 2R.
DR MIM; 615490; phenotype.
DR MedGen; C3809655.
DR MedGen; CN180570.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 2S.
AC DI-04308
AR CMT2S.
DE An axonal form of Charcot-Marie-Tooth disease, a disorder of the
DE peripheral nervous system, characterized by progressive weakness and
DE atrophy, initially of the peroneal muscles and later of the distal
DE muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE main groups on the basis of electrophysiologic properties and
DE histopathology: primary peripheral demyelinating neuropathies
DE (designated CMT1 when they are dominantly inherited) and primary
DE peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE are characterized by signs of axonal degeneration in the absence of
DE obvious myelin alterations, normal or slightly reduced nerve
DE conduction velocities, and progressive distal muscle weakness and
DE atrophy.
SY Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2S.
SY Charcot-Marie-Tooth neuropathy, type 2S.
SY Charcot-Marie-Tooth neuropathy axonal type 2S.
DR MIM; 616155; phenotype.
DR MedGen; CN224983.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 2T.
AC DI-04343
AR CMT2T.
DE An axonal form of Charcot-Marie-Tooth disease, a disorder of the
DE peripheral nervous system, characterized by progressive weakness and
DE atrophy, initially of the peroneal muscles and later of the distal
DE muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE main groups on the basis of electrophysiologic properties and
DE histopathology: primary peripheral demyelinating neuropathies
DE (designated CMT1 when they are dominantly inherited) and primary
DE peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE are characterized by signs of axonal degeneration in the absence of
DE obvious myelin alterations, normal or slightly reduced nerve
DE conduction velocities, and progressive distal muscle weakness and
DE atrophy.
SY Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2T..
SY Charcot-Marie-Tooth neuropathy, type 2T..
SY Charcot-Marie-Tooth neuropathy axonal type 2T..
DR MIM; 617017; phenotype.
DR MedGen; CN226589.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 2U.
AC DI-04362
AR CMT2U.
DE An axonal form of Charcot-Marie-Tooth disease, a disorder of the
DE peripheral nervous system, characterized by progressive weakness and
DE atrophy, initially of the peroneal muscles and later of the distal
DE muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE main groups on the basis of electrophysiologic properties and
DE histopathology: primary peripheral demyelinating neuropathies
DE (designated CMT1 when they are dominantly inherited) and primary
DE peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE are characterized by signs of axonal degeneration in the absence of
DE obvious myelin alterations, normal or slightly reduced nerve
DE conduction velocities, and progressive distal muscle weakness and
DE atrophy. CMT2U is a slowly progressive, autosomal dominant form
DE characterized by late-adult onset.
SY Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2U.
SY Charcot-Marie-Tooth neuropathy, type 2U.
DR MIM; 616280; phenotype.
DR MedGen; CN228785.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 2V.
AC DI-04496
AR CMT2V.
DE An axonal form of Charcot-Marie-Tooth disease, a disorder of the
DE peripheral nervous system, characterized by progressive weakness and
DE atrophy, initially of the peroneal muscles and later of the distal
DE muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE main groups on the basis of electrophysiologic properties and
DE histopathology: primary peripheral demyelinating neuropathies
DE (designated CMT1 when they are dominantly inherited) and primary
DE peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE are characterized by signs of axonal degeneration in the absence of
DE obvious myelin alterations, normal or slightly reduced nerve
DE conduction velocities, and progressive distal muscle weakness and
DE atrophy. CMT2V is an autosomal dominant sensory neuropathy with late
DE onset. The main clinical feature is recurrent leg pain that progresses
DE to constant painful paraesthesias in the feet and later the hands. As
DE it evolves, some patients develop a mild sensory ataxia.
SY Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V.
SY Charcot-Marie-Tooth disease, axonal, type 2V.
SY Charcot-Marie-Tooth neuropathy, type 2V.
DR MIM; 616491; phenotype.
DR MedGen; CN231733.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 2W.
AC DI-04574
AR CMT2W.
DE An autosomal dominant, axonal form of Charcot-Marie-Tooth disease, a
DE disorder of the peripheral nervous system, characterized by
DE progressive weakness and atrophy, initially of the peroneal muscles
DE and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE disease is classified in two main groups on the basis of
DE electrophysiologic properties and histopathology: primary peripheral
DE demyelinating neuropathies (designated CMT1 when they are dominantly
DE inherited) and primary peripheral axonal neuropathies (CMT2).
DE Neuropathies of the CMT2 group are characterized by signs of axonal
DE degeneration in the absence of obvious myelin alterations, normal or
DE slightly reduced nerve conduction velocities, and progressive distal
DE muscle weakness and atrophy. CMT2W patients manifest a peripheral
DE neuropathy mainly affecting the lower limbs and resulting in gait
DE difficulties and distal sensory impairment. Most patients also have
DE upper limb involvement.
SY Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2W.
SY Charcot-Marie-Tooth disease, axonal, type 2W.
SY Charcot-Marie-Tooth neuropathy, type 2W.
DR MIM; 616625; phenotype.
DR MedGen; CN233205.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 2X.
AC DI-04588
AR CMT2X.
DE An autosomal recessive, axonal form of Charcot-Marie-Tooth disease, a
DE disorder of the peripheral nervous system, characterized by
DE progressive weakness and atrophy, initially of the peroneal muscles
DE and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE disease is classified in two main groups on the basis of
DE electrophysiologic properties and histopathology: primary peripheral
DE demyelinating neuropathies (designated CMT1 when they are dominantly
DE inherited) and primary peripheral axonal neuropathies (CMT2).
DE Neuropathies of the CMT2 group are characterized by signs of axonal
DE degeneration in the absence of obvious myelin alterations, normal or
DE slightly reduced nerve conduction velocities, and progressive distal
DE muscle weakness and atrophy. CMT2X patients manifest a slowly
DE progressive, peripheral neuropathy affecting the lower limbs and
DE resulting in gait difficulties and distal sensory impairment. Some
DE patients also have upper limb involvement.
SY Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2X.
SY Charcot-Marie-Tooth disease, axonal, type 2X.
SY Charcot-Marie-Tooth neuropathy, type 2X.
DR MIM; 616668; phenotype.
DR MedGen; CN233205.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 2Y.
AC DI-04589
AR CMT2Y.
DE An autosomal dominant, axonal form of Charcot-Marie-Tooth disease, a
DE disorder of the peripheral nervous system, characterized by
DE progressive weakness and atrophy, initially of the peroneal muscles
DE and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE disease is classified in two main groups on the basis of
DE electrophysiologic properties and histopathology: primary peripheral
DE demyelinating neuropathies (designated CMT1 when they are dominantly
DE inherited) and primary peripheral axonal neuropathies (CMT2).
DE Neuropathies of the CMT2 group are characterized by signs of axonal
DE degeneration in the absence of obvious myelin alterations, normal or
DE slightly reduced nerve conduction velocities, and progressive distal
DE muscle weakness and atrophy.
SY Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Y.
SY Charcot-Marie-Tooth disease, axonal, type 2Y.
SY Charcot-Marie-Tooth neuropathy, type 2Y.
DR MIM; 616687; phenotype.
DR MedGen; CN234389.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 2Z.
AC DI-04590
AR CMT2Z.
DE An autosomal dominant, axonal form of Charcot-Marie-Tooth disease, a
DE disorder of the peripheral nervous system, characterized by
DE progressive weakness and atrophy, initially of the peroneal muscles
DE and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE disease is classified in two main groups on the basis of
DE electrophysiologic properties and histopathology: primary peripheral
DE demyelinating neuropathies (designated CMT1 when they are dominantly
DE inherited) and primary peripheral axonal neuropathies (CMT2).
DE Neuropathies of the CMT2 group are characterized by signs of axonal
DE degeneration in the absence of obvious myelin alterations, normal or
DE slightly reduced nerve conduction velocities, and progressive distal
DE muscle weakness and atrophy.
SY Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Z.
SY Charcot-Marie-Tooth disease, axonal, type 2Z.
SY Charcot-Marie-Tooth neuropathy, type 2Z.
DR MIM; 616688; phenotype.
DR MedGen; CN234390.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 4A.
AC DI-00285
AR CMT4A.
DE A recessive demyelinating form of Charcot-Marie-Tooth disease, a
DE disorder of the peripheral nervous system, characterized by
DE progressive weakness and atrophy, initially of the peroneal muscles
DE and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE disease is classified in two main groups on the basis of
DE electrophysiologic properties and histopathology: primary peripheral
DE demyelinating neuropathies (designated CMT1 when they are dominantly
DE inherited) and primary peripheral axonal neuropathies (CMT2).
DE Demyelinating neuropathies are characterized by severely reduced nerve
DE conduction velocities (less than 38 m/sec), segmental demyelination
DE and remyelination with onion bulb formations on nerve biopsy, slowly
DE progressive distal muscle atrophy and weakness, absent deep tendon
DE reflexes, and hollow feet. By convention autosomal recessive forms of
DE demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4A
DE is a severe form characterized by early age of onset and rapid
DE progression leading to inability to walk in late childhood or
DE adolescence.
SY Charcot-Marie-Tooth disease demyelinating autosomal recessive, type 4A.
SY Charcot-Marie-Tooth disease neuropathy type 4A.
DR MIM; 214400; phenotype.
DR MedGen; C1859198.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 4B1.
AC DI-00286
AR CMT4B1.
DE A recessive demyelinating form of Charcot-Marie-Tooth disease, a
DE disorder of the peripheral nervous system, characterized by
DE progressive weakness and atrophy, initially of the peroneal muscles
DE and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE disease is classified in two main groups on the basis of
DE electrophysiologic properties and histopathology: primary peripheral
DE demyelinating neuropathies (designated CMT1 when they are dominantly
DE inherited) and primary peripheral axonal neuropathies (CMT2).
DE Demyelinating neuropathies are characterized by severely reduced nerve
DE conduction velocities (less than 38 m/sec), segmental demyelination
DE and remyelination with onion bulb formations on nerve biopsy, slowly
DE progressive distal muscle atrophy and weakness, absent deep tendon
DE reflexes, and hollow feet. By convention autosomal recessive forms of
DE demyelinating Charcot-Marie-Tooth disease are designated CMT4.
SY Charcot-Marie-Tooth disease autosomal recessive with focally folded myelin sheaths 4B1.
SY Charcot-Marie-Tooth disease demyelinating autosomal recessive 4B1.
SY Charcot-Marie-Tooth disease type 4B.
SY Charcot-Marie-Tooth neuropathy type 4B1.
SY CMT4B.
DR MIM; 601382; phenotype.
DR MedGen; C1832399.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 4B2.
AC DI-00287
AR CMT4B2.
DE A recessive demyelinating form of Charcot-Marie-Tooth disease, a
DE disorder of the peripheral nervous system, characterized by
DE progressive weakness and atrophy, initially of the peroneal muscles
DE and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE disease is classified in two main groups on the basis of
DE electrophysiologic properties and histopathology: primary peripheral
DE demyelinating neuropathies (designated CMT1 when they are dominantly
DE inherited) and primary peripheral axonal neuropathies (CMT2).
DE Demyelinating neuropathies are characterized by severely reduced nerve
DE conduction velocities (less than 38 m/sec), segmental demyelination
DE and remyelination with onion bulb formations on nerve biopsy, slowly
DE progressive distal muscle atrophy and weakness, absent deep tendon
DE reflexes, and hollow feet. By convention autosomal recessive forms of
DE demyelinating Charcot-Marie-Tooth disease are designated CMT4.
SY Charcot-Marie-Tooth disease autosomal recessive with focally folded myelin sheaths 4B2.
SY Charcot-Marie-Tooth disease demyelinating autosomal recessive 4B2.
SY Charcot-Marie-Tooth neuropathy type 4B2.
DR MIM; 604563; phenotype.
DR MedGen; C1858278.
DR MedGen; C1858279.
DR MedGen; C1858280.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 4B3.
AC DI-03784
AR CMT4B3.
DE A recessive demyelinating form of Charcot-Marie-Tooth disease, a
DE disorder of the peripheral nervous system, characterized by
DE progressive weakness and atrophy, initially of the peroneal muscles
DE and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE disease is classified in two main groups on the basis of
DE electrophysiologic properties and histopathology: primary peripheral
DE demyelinating neuropathies (designated CMT1 when they are dominantly
DE inherited) and primary peripheral axonal neuropathies (CMT2).
DE Demyelinating neuropathies are characterized by severely reduced nerve
DE conduction velocities (less than 38 m/sec), segmental demyelination
DE and remyelination with onion bulb formations on nerve biopsy, slowly
DE progressive distal muscle atrophy and weakness, absent deep tendon
DE reflexes, and hollow feet. By convention autosomal recessive forms of
DE demyelinating Charcot-Marie-Tooth disease are designated CMT4.
SY Charcot-Marie-Tooth neuropathy type 4B3.
DR MIM; 615284; phenotype.
DR MedGen; C3695063.
DR MedGen; CN177020.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 4C.
AC DI-00288
AR CMT4C.
DE A recessive demyelinating form of Charcot-Marie-Tooth disease, a
DE disorder of the peripheral nervous system, characterized by
DE progressive weakness and atrophy, initially of the peroneal muscles
DE and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE disease is classified in two main groups on the basis of
DE electrophysiologic properties and histopathology: primary peripheral
DE demyelinating neuropathies (designated CMT1 when they are dominantly
DE inherited) and primary peripheral axonal neuropathies (CMT2).
DE Demyelinating neuropathies are characterized by severely reduced nerve
DE conduction velocities (less than 38 m/sec), segmental demyelination
DE and remyelination with onion bulb formations on nerve biopsy, slowly
DE progressive distal muscle atrophy and weakness, absent deep tendon
DE reflexes, and hollow feet. By convention autosomal recessive forms of
DE demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4C
DE is characterized by onset in childhood, early-onset scoliosis and a
DE distinct Schwann cell pathology.
SY Charcot-Marie-Tooth disease demyelinating autosomal recessive 4C.
SY Charcot-Marie-Tooth neuropathy type 4C.
DR MIM; 601596; phenotype.
DR MedGen; C1866636.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 4D.
AC DI-00289
AR CMT4D.
DE A recessive demyelinating form of Charcot-Marie-Tooth disease, a
DE disorder of the peripheral nervous system, characterized by
DE progressive weakness and atrophy, initially of the peroneal muscles
DE and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE disease is classified in two main groups on the basis of
DE electrophysiologic properties and histopathology: primary peripheral
DE demyelinating neuropathies (designated CMT1 when they are dominantly
DE inherited) and primary peripheral axonal neuropathies (CMT2).
DE Demyelinating neuropathies are characterized by severely reduced nerve
DE conduction velocities (less than 38 m/sec), segmental demyelination
DE and remyelination with onion bulb formations on nerve biopsy, slowly
DE progressive distal muscle atrophy and weakness, absent deep tendon
DE reflexes, and hollow feet. By convention autosomal recessive forms of
DE demyelinating Charcot-Marie-Tooth disease are designated CMT4.
SY Charcot-Marie-Tooth disease demyelinating autosomal recessive 4D.
SY Charcot-Marie-Tooth neuropathy type 4D.
SY Hereditary motor and sensory neuropathy IVD.
SY Hereditary motor and sensory neuropathy Lom type.
SY HMSN4D.
SY HMSN IVD.
SY HMSNL.
DR MIM; 601455; phenotype.
DR MedGen; C1832334.
DR MeSH; D002607.
DR MeSH; D015417.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 4F.
AC DI-03559
AR CMT4F.
DE A recessive demyelinating form of Charcot-Marie-Tooth disease, a
DE disorder of the peripheral nervous system, characterized by
DE progressive weakness and atrophy, initially of the peroneal muscles
DE and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE disease is classified in two main groups on the basis of
DE electrophysiologic properties and histopathology: primary peripheral
DE demyelinating neuropathies (designated CMT1 when they are dominantly
DE inherited) and primary peripheral axonal neuropathies (CMT2).
DE Demyelinating neuropathies are characterized by severely reduced nerve
DE conduction velocities (less than 38 m/sec), segmental demyelination
DE and remyelination with onion bulb formations on nerve biopsy, slowly
DE progressive distal muscle atrophy and weakness, absent deep tendon
DE reflexes, and hollow feet. By convention autosomal recessive forms of
DE demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4F
DE is characterized by distal sensory impairment and distal muscle
DE weakness and atrophy affecting the lower more than the upper limbs.
DE The age at onset is variable and can range from childhood to adult
DE years. When the onset is in infancy, the phenotype is characterized as
DE Dejerine-Sottas syndrome.
SY Charcot-Marie-Tooth disease demyelinating autosomal recessive 4F.
SY Charcot-Marie-Tooth neuropathy type 4F.
DR MIM; 614895; phenotype.
DR MedGen; C3540453.
DR MedGen; CN068842.
DR MeSH; D002607.
DR MeSH; D015417.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 4H.
AC DI-00290
AR CMT4H.
DE A recessive demyelinating form of Charcot-Marie-Tooth disease, a
DE disorder of the peripheral nervous system, characterized by
DE progressive weakness and atrophy, initially of the peroneal muscles
DE and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE disease is classified in two main groups on the basis of
DE electrophysiologic properties and histopathology: primary peripheral
DE demyelinating neuropathies (designated CMT1 when they are dominantly
DE inherited) and primary peripheral axonal neuropathies (CMT2).
DE Demyelinating neuropathies are characterized by severely reduced nerve
DE conduction velocities (less than 38 m/sec), segmental demyelination
DE and remyelination with onion bulb formations on nerve biopsy, slowly
DE progressive distal muscle atrophy and weakness, absent deep tendon
DE reflexes, and hollow feet. By convention autosomal recessive forms of
DE demyelinating Charcot-Marie-Tooth disease are designated CMT4.
SY Charcot-Marie-Tooth disease demyelinating autosomal recessive 4H.
SY Charcot-Marie-Tooth neuropathy type 4H.
DR MIM; 609311; phenotype.
DR MedGen; C1836336.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 4J.
AC DI-00291
AR CMT4J.
DE A recessive demyelinating form of Charcot-Marie-Tooth disease, a
DE disorder of the peripheral nervous system, characterized by
DE progressive weakness and atrophy, initially of the peroneal muscles
DE and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE disease is classified in two main groups on the basis of
DE electrophysiologic properties and histopathology: primary peripheral
DE demyelinating neuropathies (designated CMT1 when they are dominantly
DE inherited) and primary peripheral axonal neuropathies (CMT2).
DE Demyelinating neuropathies are characterized by severely reduced nerve
DE conduction velocities (less than 38 m/sec), segmental demyelination
DE and remyelination with onion bulb formations on nerve biopsy, slowly
DE progressive distal muscle atrophy and weakness, absent deep tendon
DE reflexes, and hollow feet. By convention autosomal recessive forms of
DE demyelinating Charcot-Marie-Tooth disease are designated CMT4.
DR MIM; 611228; phenotype.
DR MedGen; C1970011.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease 4K.
AC DI-04591
AR CMT4K.
DE An autosomal recessive, demyelinating form of Charcot-Marie-Tooth
DE disease, a disorder of the peripheral nervous system, characterized by
DE progressive weakness and atrophy, initially of the peroneal muscles
DE and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE disease is classified in two main groups on the basis of
DE electrophysiologic properties and histopathology: primary peripheral
DE demyelinating neuropathies (designated CMT1 when they are dominantly
DE inherited) and primary peripheral axonal neuropathies (CMT2).
DE Demyelinating neuropathies are characterized by severely reduced nerve
DE conduction velocities (less than 38 m/sec), segmental demyelination
DE and remyelination with onion bulb formations on nerve biopsy, slowly
DE progressive distal muscle atrophy and weakness, absent deep tendon
DE reflexes, and hollow feet. By convention autosomal recessive forms of
DE demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4K
DE patients manifest upper and lower limbs involvement. Some affected
DE individuals have nystagmus and late-onset cerebellar ataxia.
SY Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4K.
SY Charcot-Marie-Tooth disease, demyelinating, type 4K.
SY Charcot-Marie-Tooth neuropathy, demyelinating, autosomal recessive, type 4K.
SY Charcot-Marie-Tooth neuropathy, type 4K.
DR MIM; 616684; phenotype.
DR MedGen; CN234388.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease, axonal, 2EE.
AC DI-05543
AR CMT2EE.
DE A recessive axonal form of Charcot-Marie-Tooth disease, a disorder of
DE the peripheral nervous system, characterized by progressive weakness
DE and atrophy, initially of the peroneal muscles and later of the distal
DE muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE main groups on the basis of electrophysiologic properties and
DE histopathology: primary peripheral demyelinating neuropathies
DE (designated CMT1 when they are dominantly inherited) and primary
DE peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE are characterized by signs of axonal degeneration in the absence of
DE obvious myelin alterations, normal or slightly reduced nerve
DE conduction velocities, and progressive distal muscle weakness and
DE atrophy. CMT2EE is a slowly progressive, sensorimotor peripheral
DE axonal neuropathy with onset in the first or second decades of life.
DE The disorder primarily affects the lower limbs, sometimes resulting in
DE loss of ambulation, with later onset of upper limb involvement.
SY Charcot-Marie-Tooth disease, axonal, type 2EE.
SY Charcot-Marie-Tooth neuropathy, type 2EE.
DR MIM; 618400; phenotype.
DR MedGen; CN258309.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive.
AC DI-00263
AR CMT2RV.
DE A form of Charcot-Marie-Tooth disease characterized by the association
DE of axonal neuropathy with vocal cord paresis. Charcot-Marie-Tooth
DE disease is a disorder of the peripheral nervous system, characterized
DE by progressive weakness and atrophy, initially of the peroneal muscles
DE and later of the distal muscles of the arms.
SY Charcot-Marie-Tooth axonal type 4A.
SY Charcot-Marie-Tooth neuropathy axonal with vocal cord paresis autosomal recessive.
SY CMT2 with vocal cord paresis autosomal recessive.
DR MIM; 607706; phenotype.
DR MedGen; C1843183.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease, demyelinating, 1G.
AC DI-05460
AR CMT1G.
DE An autosomal dominant demyelinating form of Charcot-Marie-Tooth
DE disease, a disorder of the peripheral nervous system, characterized by
DE progressive weakness and atrophy, initially of the peroneal muscles
DE and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE disease is classified in two main groups on the basis of
DE electrophysiologic properties and histopathology: primary peripheral
DE demyelinating neuropathies (designated CMT1 when they are dominantly
DE inherited) and primary peripheral axonal neuropathies (CMT2).
DE Demyelinating neuropathies are characterized by severely reduced nerve
DE conduction velocities (less than 38 m/sec), segmental demyelination
DE and remyelination with onion bulb formations on nerve biopsy, slowly
DE progressive distal muscle atrophy and weakness, absent deep tendon
DE reflexes, and hollow feet. CMT1G is characterized by distal muscle
DE weakness and atrophy with onset in the first or second decade.
SY Charcot-Marie-Tooth disease, demyelinating, type 1G.
DR MIM; 618279; phenotype.
DR MedGen; CN258117.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease, demyelinating, 1H.
AC DI-06336
AR CMT1H.
DE An autosomal dominant demyelinating form of Charcot-Marie-Tooth
DE disease, a disorder of the peripheral nervous system, characterized by
DE progressive weakness and atrophy, initially of the peroneal muscles
DE and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE disease is classified in two main groups on the basis of
DE electrophysiologic properties and histopathology: primary peripheral
DE demyelinating neuropathies (designated CMT1 when they are dominantly
DE inherited) and primary peripheral axonal neuropathies (CMT2).
DE Demyelinating neuropathies are characterized by severely reduced nerve
DE conduction velocities (less than 38 m/sec), segmental demyelination
DE and remyelination with onion bulb formations on nerve biopsy, slowly
DE progressive distal muscle atrophy and weakness, absent deep tendon
DE reflexes, and hollow feet. CMT1H is characterized by peripheral
DE sensorimotor neuropathy with onset usually in adulthood. Affected
DE individuals present with foot deformities, upper or lower limb sensory
DE disturbances, and motor deficits, mainly impaired gait. Rare patients
DE may have hyperelastic skin or develop age-related macular
DE degeneration.
SY Charcot-Marie-Tooth disease, demyelinating, type 1H.
SY Charcot-Marie-Tooth neuropathy, type 1H.
SY Hereditary motor and sensory neuropathy, IH.
SY HNARMD.
SY Neuropathy, hereditary, with or without age-related macular degeneration.
DR MIM; 619764; phenotype.
DR MedGen; CN306957.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease, demyelinating, 1I.
AC DI-06335
AR CMT1I.
DE An autosomal dominant demyelinating form of Charcot-Marie-Tooth
DE disease, a disorder of the peripheral nervous system, characterized by
DE progressive weakness and atrophy, initially of the peroneal muscles
DE and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE disease is classified in two main groups on the basis of
DE electrophysiologic properties and histopathology: primary peripheral
DE demyelinating neuropathies (designated CMT1 when they are dominantly
DE inherited) and primary peripheral axonal neuropathies (CMT2).
DE Demyelinating neuropathies are characterized by severely reduced nerve
DE conduction velocities (less than 38 m/sec), segmental demyelination
DE and remyelination with onion bulb formations on nerve biopsy, slowly
DE progressive distal muscle atrophy and weakness, absent deep tendon
DE reflexes, and hollow feet. CMT1I is characterized predominantly by
DE delayed motor development in the first years of life associated with
DE gait abnormalities, sensory ataxia, hyporeflexia, and distal sensory
DE impairment due to a sensorimotor peripheral neuropathy that mainly
DE affects the lower limbs. The disorder is progressive, and some may
DE have upper limb involvement. A subset of patients has central nervous
DE system involvement that manifests as global developmental delay with
DE impaired intellectual development and speech difficulties.
SY Charcot-Marie-Tooth disease, demyelinating, type 1I.
SY Charcot-Marie-Tooth neuropathy, type 1I.
DR MIM; 619742; phenotype.
DR MedGen; CN306474.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease, dominant intermediate G.
AC DI-05208
AR CMTDIG.
DE An autosomal dominant, intermediate form of Charcot-Marie-Tooth
DE disease, a disorder of the peripheral nervous system, characterized by
DE progressive weakness and atrophy, initially of the peroneal muscles
DE and later of the distal muscles of the arms. Dominant intermediate
DE forms are characterized by clinical and pathologic features
DE intermediate between demyelinating and axonal peripheral neuropathies,
DE and motor median nerve conduction velocities ranging from 25 to 45
DE m/sec. CMTDIG is phenotypically variable. Most affected individuals
DE have onset in the first or second decades of slowly progressive distal
DE motor weakness and atrophy, resulting in gait instability and distal
DE upper limb impairment, as well as distal sensory impairment.
SY Charcot-Marie-Tooth disease, dominant, intermediate type, G.
DR MIM; 617882; phenotype.
DR MedGen; CN847583.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease, dominant, intermediate type, B.
AC DI-00264
AR CMTDIB.
DE A form of Charcot-Marie-Tooth disease, a disorder of the peripheral
DE nervous system, characterized by progressive weakness and atrophy,
DE initially of the peroneal muscles and later of the distal muscles of
DE the arms. The dominant intermediate type B is characterized by
DE clinical and pathologic features intermediate between demyelinating
DE and axonal peripheral neuropathies, and motor median nerve conduction
DE velocities ranging from 25 to 45 m/sec.
SY Charcot-Marie-Tooth neuropathy dominant intermediate B.
SY CMTDI1.
SY DI-CMTB.
DR MIM; 606482; phenotype.
DR MedGen; C1847902.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease, dominant, intermediate type, C.
AC DI-00265
AR CMTDIC.
DE A form of Charcot-Marie-Tooth disease, a disorder of the peripheral
DE nervous system, characterized by progressive weakness and atrophy,
DE initially of the peroneal muscles and later of the distal muscles of
DE the arms. The dominant intermediate type C is characterized by
DE clinical and pathologic features intermediate between demyelinating
DE and axonal peripheral neuropathies, and motor median nerve conduction
DE velocities ranging from 25 to 45 m/sec.
DR MIM; 608323; phenotype.
DR MedGen; C1842237.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease, dominant, intermediate type, D.
AC DI-00266
AR CMTDID.
DE A form of Charcot-Marie-Tooth disease, a disorder of the peripheral
DE nervous system, characterized by progressive weakness and atrophy,
DE initially of the peroneal muscles and later of the distal muscles of
DE the arms. The dominant intermediate type D is characterized by
DE clinical and pathologic features intermediate between demyelinating
DE and axonal peripheral neuropathies, and motor median nerve conduction
DE velocities ranging from 25 to 45 m/sec.
DR MIM; 607791; phenotype.
DR MedGen; C1843075.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease, dominant, intermediate type, E.
AC DI-03340
AR CMTDIE.
DE A form of Charcot-Marie-Tooth disease, a disorder of the peripheral
DE nervous system, characterized by progressive weakness and atrophy,
DE initially of the peroneal muscles and later of the distal muscles of
DE the arms. The dominant intermediate type E is characterized by
DE clinical and pathologic features intermediate between demyelinating
DE and axonal peripheral neuropathies, and motor median nerve conduction
DE velocities ranging from 25 to 45 m/sec. Patients additionally manifest
DE focal segmental glomerulonephritis, proteinuria, progression to end-
DE stage renal disease, and a characteristic histologic pattern on renal
DE biopsy.
SY Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis.
DR MIM; 614455; phenotype.
DR MedGen; C3280845.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease, dominant, intermediate type, F.
AC DI-03759
AR CMTDIF.
DE A form of Charcot-Marie-Tooth disease, a disorder of the peripheral
DE nervous system, characterized by progressive weakness and atrophy,
DE initially of the peroneal muscles and later of the distal muscles of
DE the arms. CMTDIF is characterized by onset around adolescence of
DE slowly progressive distal muscle atrophy and weakness affecting the
DE upper and lower limbs and resulting in steppage gait. There is distal
DE sensory impairment with decreased reflexes. Nerve conduction
DE velocities are variable, ranging from the demyelinating to the axonal
DE range.
DR MIM; 615185; phenotype.
DR MedGen; C3554654.
DR MedGen; CN168980.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease, recessive, intermediate type, A.
AC DI-00267
AR CMTRIA.
DE A form of Charcot-Marie-Tooth disease, a disorder of the peripheral
DE nervous system, characterized by progressive weakness and atrophy,
DE initially of the peroneal muscles and later of the distal muscles of
DE the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease
DE are characterized by clinical and pathologic features intermediate
DE between demyelinating and axonal peripheral neuropathies, and motor
DE median nerve conduction velocities ranging from 25 to 45 m/sec.
SY Charcot-Marie-Tooth neuropathy recessive intermediate A.
SY RI-CMTA.
DR MIM; 608340; phenotype.
DR MedGen; C1842197.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease, recessive, intermediate type, B.
AC DI-02946
AR CMTRIB.
DE A form of Charcot-Marie-Tooth disease, a disorder of the peripheral
DE nervous system, characterized by progressive weakness and atrophy,
DE initially of the peroneal muscles and later of the distal muscles of
DE the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease
DE are characterized by clinical and pathologic features intermediate
DE between demyelinating and axonal peripheral neuropathies, and motor
DE median nerve conduction velocities ranging from 25 to 45 m/sec.
SY Charcot-Marie-Tooth neuropathy recessive intermediate B.
SY RI-CMTB.
DR MIM; 613641; phenotype.
DR MedGen; C3150897.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease, recessive, intermediate type, C.
AC DI-03862
AR CMTRIC.
DE A form of Charcot-Marie-Tooth disease, a disorder of the peripheral
DE nervous system, characterized by progressive weakness and atrophy,
DE initially of the peroneal muscles and later of the distal muscles of
DE the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease
DE are characterized by clinical and pathologic features intermediate
DE between demyelinating and axonal peripheral neuropathies, and motor
DE median nerve conduction velocities ranging from 25 to 45 m/sec.
SY Charcot-Marie-Tooth neuropathy recessive intermediate C.
SY RI-CMTC.
DR MIM; 615376; phenotype.
DR MedGen; C3809309.
DR MedGen; CN179767.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease, recessive, intermediate type, D.
AC DI-04254
AR CMTRID.
DE A form of Charcot-Marie-Tooth disease, a disorder of the peripheral
DE nervous system, characterized by progressive weakness and atrophy,
DE initially of the peroneal muscles and later of the distal muscles of
DE the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease
DE are characterized by clinical and pathologic features intermediate
DE between demyelinating and axonal peripheral neuropathies, and motor
DE median nerve conduction velocities ranging from 25 to 45 m/sec.
SY Charcot-Marie-Tooth disease, recessive intermediate D.
DR MIM; 616039; phenotype.
DR MedGen; CN219803.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease, X-linked dominant, 1.
AC DI-00293
AR CMTX1.
DE A form of Charcot-Marie-Tooth disease, a disorder of the peripheral
DE nervous system, characterized by progressive weakness and atrophy,
DE initially of the peroneal muscles and later of the distal muscles of
DE the arms. Charcot-Marie-Tooth disease is classified in two main groups
DE on the basis of electrophysiologic properties and histopathology:
DE primary peripheral demyelinating neuropathies characterized by
DE severely reduced motor nerve conduction velocities (NCVs) (less than
DE 38m/s) and segmental demyelination and remyelination, and primary
DE peripheral axonal neuropathies characterized by normal or mildly
DE reduced NCVs and chronic axonal degeneration and regeneration on nerve
DE biopsy. CMTX1 has both demyelinating and axonal features. Central
DE nervous system involvement may occur.
SY Charcot-Marie-Tooth neuropathy X-linked 1.
SY Charcot-Marie-Tooth peroneal muscular atrophy X-linked.
SY CMTX.
SY Hereditary motor and sensory neuropathy X-linked.
SY HMSN X-linked.
DR MIM; 302800; phenotype.
DR MedGen; C0393808.
DR MeSH; D002607.
DR MeSH; D015417.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease, X-linked dominant, 6.
AC DI-03842
AR CMTX6.
DE A form of Charcot-Marie-Tooth disease, a disorder of the peripheral
DE nervous system, characterized by progressive weakness and atrophy,
DE initially of the peroneal muscles and later of the distal muscles of
DE the arms. Charcot-Marie-Tooth disease is classified in two main groups
DE on the basis of electrophysiologic properties and histopathology:
DE primary peripheral demyelinating neuropathies characterized by
DE severely reduced motor nerve conduction velocities (NCVs) (less than
DE 38m/s) and segmental demyelination and remyelination, and primary
DE peripheral axonal neuropathies characterized by normal or mildly
DE reduced NCVs and chronic axonal degeneration and regeneration on nerve
DE biopsy.
SY Charcot-Marie-Tooth neuropathy X-linked 6.
DR MIM; 300905; phenotype.
DR MedGen; C3806702.
DR MedGen; CN178708.
DR MeSH; D002607.
DR MeSH; D015417.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Charcot-Marie-Tooth disease, X-linked recessive, 4, with or without cerebellar ataxia.
AC DI-03693
AR CMTX4.
DE A neuromuscular disorder characterized by progressive sensorimotor
DE axonal neuropathy, distal sensory impairment, difficulty walking due
DE to peripheral neuropathy and/or cerebellar ataxia, and deafness due to
DE auditory neuropathy. Additional features include cognitive impairment,
DE cerebellar atrophy, dysarthria, abnormal extraocular movements,
DE tremor, dysmetria and spasticity. The age at onset ranges from infancy
DE to young adulthood.
SY Charcot-Marie-Tooth disease X-linked recessive 4.
SY Cowchock syndrome.
SY COWCK.
SY NADMR.
SY NAMSD.
DR MIM; 310490; phenotype.
DR MedGen; C0795910.
DR MeSH; D002607.
DR MeSH; D006319.
DR MeSH; D008607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0209:Deafness.
KW KW-0523:Neurodegeneration.
KW KW-0991:Intellectual disability.
//
ID Charcot-Marie-Tooth disease, X-linked recessive, 5.
AC DI-01337
AR CMTX5.
DE A form of Charcot-Marie-Tooth disease, a disorder of the peripheral
DE nervous system, characterized by progressive weakness and atrophy,
DE initially of the peroneal muscles and later of the distal muscles of
DE the arms. Charcot-Marie-Tooth disease is classified in two main groups
DE on the basis of electrophysiologic properties and histopathology:
DE primary peripheral demyelinating neuropathies characterized by
DE severely reduced motor nerve conduction velocities (NCVs) (less than
DE 38m/s) and segmental demyelination and remyelination, and primary
DE peripheral axonal neuropathies characterized by normal or mildly
DE reduced NCVs and chronic axonal degeneration and regeneration on nerve
DE biopsy.
SY Charcot-Marie-Tooth neuropathy X-linked recessive 5.
SY Optic atrophy with polyneuropathy and deafness.
SY Rosenberg-Chutorian syndrome.
DR MIM; 311070; phenotype.
DR MedGen; C1839566.
DR MeSH; D002607.
DR MeSH; D015417.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID CHARGE syndrome.
AC DI-01338
AR CHARGES.
DE Common cause of congenital anomalies. Is characterized by a non-random
DE pattern of congenital anomalies including choanal atresia and
DE malformations of the heart, inner ear, and retina.
DR MIM; 214800; phenotype.
DR MedGen; C0265354.
//
ID Chediak-Higashi syndrome.
AC DI-00295
AR CHS.
DE A rare autosomal recessive disorder characterized by hypopigmentation,
DE severe immunologic deficiency, a bleeding tendency, neurologic
DE abnormalities, abnormal intracellular transport to and from the
DE lysosome, and giant inclusion bodies in a variety of cell types. Most
DE patients die at an early age unless they receive an allogeneic
DE hematopoietic stem cell transplant (SCT).
DR MIM; 214500; phenotype.
DR MedGen; C0007965.
DR MedGen; CN068761.
DR MedGen; CN068762.
DR MeSH; D002609.
//
ID Cherubism.
AC DI-00296
AR CRBM.
DE An autosomal dominant syndrome characterized by excessive bone
DE degradation of the upper and lower jaws, which often begins around
DE three years of age. It is followed by development of fibrous tissue
DE masses, which causes a characteristic facial swelling.
DR MIM; 118400; phenotype.
DR MedGen; C0008029.
DR MeSH; D002636.
//
ID Chilblain lupus 1.
AC DI-01339
AR CHBL1.
DE A rare cutaneous form of lupus erythematosus. Affected individuals
DE present with painful bluish-red papular or nodular lesions of the skin
DE in acral locations precipitated by cold and wet exposure.
SY Chilblain lupus erythematosus.
SY CHLE.
SY Hutchinson lupus.
DR MIM; 610448; phenotype.
DR MedGen; C0024145.
DR MedGen; C3277619.
DR MeSH; D008178.
//
ID Chilblain lupus 2.
AC DI-03338
AR CHBL2.
DE A rare cutaneous form of lupus erythematosus. Affected individuals
DE present with painful bluish-red papular or nodular lesions of the skin
DE in acral locations precipitated by cold and wet exposure.
DR MIM; 614415; phenotype.
DR MedGen; C3280721.
DR MeSH; D008178.
//
ID Childhood cancer retinoblastoma.
AC DI-01340
AR RB.
DE Congenital malignant tumor that arises from the nuclear layers of the
DE retina. It occurs in about 1:20'000 live births and represents about
DE 2% of childhood malignancies. It is bilateral in about 30% of cases.
DE Although most RB appear sporadically, about 20% are transmitted as an
DE autosomal dominant trait with incomplete penetrance. The diagnosis is
DE usually made before the age of 2 years when strabismus or a gray to
DE yellow reflex from pupil ('cat eye') is investigated.
DR MIM; 180200; phenotype.
DR MedGen; C1867262.
//
ID Chitayat syndrome.
AC DI-04884
AR CHYTS.
DE An autosomal dominant syndrome characterized by hyperphalangism,
DE partial syndactyly, bilateral accessory phalanx resulting in shortened
DE index fingers, hallux valgus, brachydactyly, facial anomalies, diffuse
DE bronchomalacia, and respiratory distress at birth and in infancy.
DR MIM; 617180; phenotype.
DR MedGen; CN238868.
DR MeSH; D017880.
DR MeSH; D055091.
//
ID Choanal atresia and lymphedema.
AC DI-03023
AR CATLPH.
DE A disease characterized by posterior choanal atresia and lymphedema.
DE Additional features are a high-arched palate, hypoplastic nipples, and
DE mild pectus excavatum.
DR MIM; 613611; phenotype.
DR MedGen; C3150875.
DR MeSH; D002754.
DR MeSH; D008209.
//
ID Cholestasis of pregnancy, intrahepatic 1.
AC DI-00600
AR ICP1.
DE A liver disorder of pregnancy. It presents during the second or, more
DE commonly, the third trimester of pregnancy with intense pruritus which
DE becomes more severe with advancing gestation and cholestasis.
DE Cholestasis results from abnormal biliary transport from the liver
DE into the small intestine. ICP1 causes fetal distress, spontaneous
DE premature delivery and intrauterine death. ICP1 patients have
DE spontaneous and progressive disappearance of cholestasis after
DE delivery.
SY Obstetric cholestasis.
SY Pregnancy-related cholestasis.
SY Recurrent intrahepatic cholestasis of pregnancy.
DR MIM; 147480; phenotype.
DR MedGen; C0268318.
DR MedGen; C3549845.
DR MeSH; D002780.
KW KW-0988:Intrahepatic cholestasis.
//
ID Cholestasis of pregnancy, intrahepatic 3.
AC DI-03634
AR ICP3.
DE A liver disorder of pregnancy. It presents during the second or, more
DE commonly, the third trimester of pregnancy with intense pruritus which
DE becomes more severe with advancing gestation and cholestasis. It
DE causes fetal distress, spontaneous premature delivery and intrauterine
DE death. Patients have spontaneous and progressive disappearance of
DE cholestasis after delivery. Cholestasis results from abnormal biliary
DE transport from the liver into the small intestine.
DR MIM; 614972; phenotype.
DR MedGen; C3554241.
DR MedGen; CN162977.
DR MeSH; D002780.
KW KW-0988:Intrahepatic cholestasis.
//
ID Cholestasis, benign recurrent intrahepatic, 1.
AC DI-00185
AR BRIC1.
DE A disorder characterized by intermittent episodes of cholestasis
DE without progression to liver failure. There is initial elevation of
DE serum bile acids, followed by cholestatic jaundice which generally
DE spontaneously resolves after periods of weeks to months. The
DE cholestatic attacks vary in severity and duration. Patients are
DE asymptomatic between episodes, both clinically and biochemically.
SY Recurrent familial intrahepatic cholestasis.
SY Summerskill syndrome.
DR MIM; 243300; phenotype.
DR MedGen; C1855731.
DR MeSH; D002780.
KW KW-0988:Intrahepatic cholestasis.
//
ID Cholestasis, benign recurrent intrahepatic, 2.
AC DI-00186
AR BRIC2.
DE A disorder characterized by intermittent episodes of cholestasis
DE without progression to liver failure. There is initial elevation of
DE serum bile acids, followed by cholestatic jaundice which generally
DE spontaneously resolves after periods of weeks to months. The
DE cholestatic attacks vary in severity and duration. Patients are
DE asymptomatic between episodes, both clinically and biochemically.
DR MIM; 605479; phenotype.
DR MedGen; C2608083.
DR MeSH; D002780.
KW KW-0988:Intrahepatic cholestasis.
//
ID Cholestasis, neonatal intrahepatic, caused by citrin deficiency.
AC DI-00799
AR NICCD.
DE A form of citrullinemia type 2 with neonatal onset, characterized by
DE suppression of the bile flow, hepatic fibrosis, low birth weight,
DE growth retardation, hypoproteinemia, variable liver dysfunction.
DE Neonatal intrahepatic cholestasis due to citrin deficiency is
DE generally not severe and symptoms disappear by one year of age with an
DE appropriate diet. Years or even decades later, however, some
DE individuals develop the characteristic features of citrullinemia type
DE 2 with neuropsychiatric symptoms.
SY Citrin deficiency.
SY Citrullinemia, type II, neonatal-onset.
SY Citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidemia.
SY Neonatal-onset citrullinemia type 2.
SY Neonatal-onset citrullinemia type II.
DR MIM; 605814; phenotype.
DR MedGen; C1853942.
DR MeSH; D002780.
KW KW-0988:Intrahepatic cholestasis.
//
ID Cholestasis, progressive familial intrahepatic, 1.
AC DI-00949
AR PFIC1.
DE A disorder characterized by early onset of cholestasis that progresses
DE to hepatic fibrosis, cirrhosis, and end-stage liver disease before
DE adulthood. PFIC1 inheritance is autosomal recessive.
SY Byler disease.
SY Fatal intrahepatic cholestasis.
DR MIM; 211600; phenotype.
DR MedGen; C0268312.
DR MeSH; D002780.
KW KW-0988:Intrahepatic cholestasis.
//
ID Cholestasis, progressive familial intrahepatic, 2.
AC DI-00950
AR PFIC2.
DE A disorder characterized by early onset of cholestasis that progresses
DE to hepatic fibrosis, cirrhosis, and end-stage liver disease before
DE adulthood. PFIC2 inheritance is autosomal recessive.
DR MIM; 601847; phenotype.
DR MedGen; C1866138.
DR MedGen; C3489789.
DR MeSH; D002780.
KW KW-0988:Intrahepatic cholestasis.
//
ID Cholestasis, progressive familial intrahepatic, 3.
AC DI-00951
AR PFIC3.
DE A disorder characterized by early onset of cholestasis that progresses
DE to hepatic fibrosis, cirrhosis, and end-stage liver disease before
DE adulthood. PFIC3 inheritance is autosomal recessive.
SY MDR3 deficiency.
SY Progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase.
DR MIM; 602347; phenotype.
DR MedGen; C1865643.
DR MeSH; D002780.
KW KW-0988:Intrahepatic cholestasis.
//
ID Cholestasis, progressive familial intrahepatic, 4.
AC DI-04152
AR PFIC4.
DE A disorder characterized by early onset of cholestasis that progresses
DE to hepatic fibrosis, cirrhosis, and end-stage liver disease before
DE adulthood. PFIC4 inheritance is autosomal recessive.
DR MIM; 615878; phenotype.
DR MedGen; C2931067.
DR MeSH; D002780.
KW KW-0988:Intrahepatic cholestasis.
//
ID Cholestasis, progressive familial intrahepatic, 5.
AC DI-04774
AR PFIC5.
DE A disorder characterized by early onset of cholestasis that progresses
DE to hepatic fibrosis, cirrhosis, and end-stage liver disease before
DE adulthood. PFIC5 is an autosomal recessive, severe form characterized
DE by onset of intralobular cholestasis in the neonatal period.
DR MIM; 617049; phenotype.
DR MedGen; CN237812.
DR MeSH; D002780.
KW KW-0988:Intrahepatic cholestasis.
//
ID Cholestasis, progressive familial intrahepatic, 6.
AC DI-06201
AR PFIC6.
DE An autosomal recessive form of progressive cholestasis, a disorder
DE characterized by early onset of cholestasis that progresses to hepatic
DE fibrosis, cirrhosis, and end-stage liver disease. PFIC6 patients have
DE elevated liver transaminases and congenital diarrhea.
DR MIM; 619484; phenotype.
DR MedGen; CN301147.
DR MeSH; D002780.
KW KW-0988:Intrahepatic cholestasis.
//
ID Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss.
AC DI-06293
AR PFIC7.
DE An autosomal recessive form of progressive cholestasis, a disorder
DE characterized by early onset of cholestasis that progresses to hepatic
DE fibrosis, cirrhosis, and end-stage liver disease. Some PFIC7 patients
DE develop hearing loss in childhood.
DR MIM; 619658; phenotype.
DR MedGen; CN305244.
DR MeSH; D002780.
DR MeSH; D034381.
KW KW-0209:Deafness.
KW KW-0988:Intrahepatic cholestasis.
//
ID Cholestasis, progressive familial intrahepatic, 8.
AC DI-06294
AR PFIC8.
DE An autosomal recessive form of progressive cholestasis, a disorder
DE characterized by early onset of cholestasis that progresses to hepatic
DE fibrosis, cirrhosis, and end-stage liver disease. PFIC8 onset is in
DE early infancy.
DR MIM; 619662; phenotype.
DR MedGen; CN305247.
DR MeSH; D002780.
KW KW-0988:Intrahepatic cholestasis.
//
ID Cholesteryl ester storage disease.
AC DI-00301
AR CESD.
DE A mild manifestation of LIPA deficiency, leading to the accumulation
DE of cholesteryl esters and triglycerides in most tissues of the body.
DE It is characterized by late-onset.
SY Cholesterol ester hydrolase deficiency.
SY Cholesterol ester storage disease.
SY LAL deficiency.
SY LIPA deficiency.
SY Lysosomal acid lipase deficiency.
DR MIM; 278000; phenotype.
DR MedGen; C0043208.
DR MedGen; CN205686.
DR MeSH; D015217.
DR MeSH; D015223.
//
ID Chondrocalcinosis 2.
AC DI-01342
AR CCAL2.
DE Chondrocalcinosis is a common cause of joint pain and arthritis caused
DE by calcium deposition in articular cartilage and the presence of
DE calcium hypophosphate crystals in synovial fluid, cartilage and
DE periarticular soft tissue. CCAL2 inheritance is autosomal dominant.
SY Calcium gout.
SY Calcium pyrophosphate arthropathy.
SY Calcium pyrophosphate dihydrate deposition disease.
SY Calcium pyrophosphate dihydrate deposition disease 2.
SY Chondrocalcinosis, familial articular.
SY CPPDD.
SY CPPDD2.
SY Familial articular chondrocalcinosis.
DR MIM; 118600; phenotype.
DR MedGen; C0856830.
DR MeSH; D002805.
//
ID Chondrodysplasia Blomstrand type.
AC DI-01343
AR BOCD.
DE Severe skeletal dysplasia.
DR MIM; 215045; phenotype.
DR MedGen; C1859148.
//
ID Chondrodysplasia punctata 1, X-linked recessive.
AC DI-00302
AR CDPX1.
DE A clinically and genetically heterogeneous disorder characterized by
DE punctiform calcification of the bones. CDPX1 is a congenital defect of
DE bone and cartilage development characterized by aberrant bone
DE mineralization, severe underdevelopment of nasal cartilage, and distal
DE phalangeal hypoplasia. This disease can also be induced by inhibition
DE with the drug warfarin.
SY Chondrodysplasia punctata brachytelephalangic.
DR MIM; 302950; phenotype.
DR MedGen; C1844853.
DR MeSH; D002806.
//
ID Chondrodysplasia punctata 2, X-linked dominant.
AC DI-00303
AR CDPX2.
DE A clinically and genetically heterogeneous disorder characterized by
DE punctiform calcification of the bones. The key clinical features of
DE CDPX2 are chondrodysplasia punctata, linear ichthyosis, cataracts and
DE short stature. CDPX2 is a rare disorder of defective cholesterol
DE biosynthesis, biochemically characterized by an increased amount of 8-
DE dehydrocholesterol and cholest-8(9)-en-3-beta-ol in the plasma and
DE tissues.
SY CHH.
SY Conradi-Hunermann-Happle syndrome.
SY Conradi-Hunermann syndrome.
SY Happle syndrome.
DR MIM; 302960; phenotype.
DR MedGen; C0282102.
DR MedGen; C2931843.
DR MeSH; D002806.
KW KW-0242:Dwarfism.
KW KW-0898:Cataract.
KW KW-0977:Ichthyosis.
//
ID Chondrodysplasia with joint dislocations, GPAPP type.
AC DI-03139
AR CDP-GPAPP.
DE A condition consisting of congenital joint dislocations,
DE chondrodysplasia with short stature, micrognathia and cleft palate,
DE and a distinctive face.
SY GPAPP deficiency.
DR MIM; 614078; phenotype.
DR MedGen; C3279757.
DR MeSH; D010009.
//
ID Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia.
AC DI-03899
AR CDP-PBHM.
DE A disease characterized by chondrodysplasia, severe platyspondyly,
DE hydrocephaly, and facial features with microphthalmia. Bone
DE abnormalities include a distinctive metaphyseal cupping of the
DE metacarpals, metatarsals, and phalanges. Affected females show a
DE milder phenotype with small stature, sometimes associated with body
DE asymmetry and mild intellectual disability.
DR MIM; 300863; phenotype.
DR MedGen; C3275476.
DR MeSH; D010009.
//
ID Chondrosarcoma.
AC DI-02741
AR CHDSA.
DE A malignant neoplasm derived from cartilage cells. Chondrosarcomas
DE range from slow-growing non-metastasizing lesions to highly aggressive
DE metastasizing sarcomas.
DR MIM; 215300; phenotype.
DR MedGen; C0008479.
DR MeSH; D002813.
//
ID Chopra-Amiel-Gordon syndrome.
AC DI-06214
AR CAGS.
DE An autosomal dominant disorder characterized by developmental delay,
DE intellectual disability, speech delay, and dysmorphic facial features.
DE Additional features include growth failure, feeding difficulties, non-
DE specific brain abnormalities, ophthalmological abnormalities, gait and
DE balance disturbance, joint hypermobility, and predisposition to
DE recurrent infections.
DR MIM; 619504; phenotype.
DR MedGen; CN300380.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID CHOPS syndrome.
AC DI-04427
AR CHOPS.
DE A syndrome characterized by cognitive impairment, coarse facies, heart
DE defects, obesity, pulmonary involvement, short stature, and skeletal
DE dysplasia.
DR MIM; 616368; phenotype.
DR MedGen; CN230323.
DR MeSH; D000015.
KW KW-0242:Dwarfism.
KW KW-0550:Obesity.
//
ID Chordoma.
AC DI-02579
AR CHDM.
DE Rare, clinically malignant tumors derived from notochordal remnants.
DE They occur along the length of the spinal axis, predominantly in the
DE sphenooccipital, vertebral and sacrococcygeal regions. They are
DE characterized by slow growth, local destruction of bone, extension
DE into adjacent soft tissues and rarely, distant metastatic spread.
DR MIM; 215400; phenotype.
DR MedGen; C0008487.
DR MeSH; D002817.
//
ID Chorea, childhood-onset, with psychomotor retardation.
AC DI-04724
AR COCPMR.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE abnormal involuntary movements, marked speech delay, intellectual
DE disability and learning difficulties.
DR MIM; 616939; phenotype.
DR MedGen; CN236418.
DR MeSH; D002819.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Chorea, hereditary benign.
AC DI-01272
AR BHC.
DE A rare autosomal dominant movement disorder, defined by early onset in
DE childhood, a stable or non-progressive course of chorea, and no mental
DE deterioration. Chorea is characterized by involuntary, forcible,
DE rapid, jerky movements that may be subtle or become confluent,
DE markedly altering normal patterns of movement.
SY Hereditary chorea without dementia.
DR MIM; 118700; phenotype.
DR MedGen; C0393584.
DR MeSH; D002819.
//
ID Choreoacanthocytosis.
AC DI-01344
AR CHAC.
DE An autosomal recessive neurodegenerative disorder characterized by the
DE gradual onset of hyperkinetic movements and abnormal erythrocyte
DE morphology. Basal ganglia atrophy in the brain is a pathological
DE feature of the disease. Other clinical symptoms include psychiatric
DE features, epilepsy, peripheral neuropathy, myopathy and oral self-
DE mutilation.
SY Acanthocytosis with neurologic disorder.
SY Chorea-acanthocytosis.
SY Levine-Critchley syndrome.
SY Neuroacanthocytosis.
DR MIM; 200150; phenotype.
DR MedGen; C0393576.
DR MeSH; D054546.
KW KW-0523:Neurodegeneration.
//
ID Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction.
AC DI-01345
AR CAHTP.
DE An autosomal dominant disorder that manifests in infancy with
DE neurological disturbances, hypothyroidism, and respiratory problems.
DE It is characterized by movement abnormalities beginning with muscular
DE hypotonia followed by the development of chorea, athetosis, dystonia,
DE ataxia, and dysarthria.
SY Brain-lung-thyroid syndrome.
SY Choreoathetosis, hypothyroidism, and neonatal respiratory distress.
DR MIM; 610978; phenotype.
DR MedGen; C1970269.
DR MedGen; C1970270.
DR MeSH; D001264.
DR MeSH; D002819.
DR MeSH; D003409.
DR MeSH; D012127.
KW KW-0984:Congenital hypothyroidism.
//
ID Chorioretinal atrophy, progressive bifocal.
AC DI-06013
AR PBCRA.
DE An autosomal dominant, progressive chorioretinal dystrophy
DE characterized by atrophic macular and nasal retinal lesions evident
DE soon after birth, nystagmus, myopia, and poor vision. Retinal
DE detachment is observed in some patients.
SY Progressive bifocal chorioretinal atrophy.
DR MIM; 600790; phenotype.
DR MedGen; C1833321.
DR MeSH; D012164.
//
ID Choroidal dystrophy, central areolar 2.
AC DI-01330
AR CACD2.
DE A form of central areolar choroidal dystrophy, a retinal disease that
DE affects the macula and results in a well-demarcated circumscribed area
DE of atrophy of the pigment epithelium and choriocapillaris.
DR MIM; 613105; phenotype.
DR MedGen; C2751290.
DR MeSH; D012164.
//
ID Choroidal dystrophy, central areolar, 1.
AC DI-05168
AR CACD1.
DE A form of central areolar choroidal dystrophy, a retinal disease that
DE affects the macula and results in a well-demarcated circumscribed area
DE of atrophy of the pigment epithelium and choriocapillaris. CACD1
DE inheritance is autosomal recessive.
SY CACD.
SY Choroidal dystrophy.
SY Choroidal dystrophy, central areolar.
DR MIM; 215500; phenotype.
DR MedGen; C0344297.
DR MedGen; C1536451.
DR MeSH; D012164.
//
ID Choroideremia.
AC DI-01347
AR CHM.
DE An X-linked recessive disease characterized by a slowly progressive
DE degeneration of the choroid, photoreceptors, and retinal pigment
DE epithelium. Affected males develop night blindness in their teenage
DE years followed by loss of peripheral vision and complete blindness at
DE middle age. Carrier females are generally asymptomatic but funduscopic
DE examination often shows patchy areas of chorioretinal atrophy.
SY Progressive tapetochoroidal dystrophy.
SY TCD.
DR MIM; 303100; phenotype.
DR MedGen; C0008525.
DR MedGen; C0344297.
DR MeSH; D015794.
//
ID Chronic atrial and intestinal dysrhythmia.
AC DI-04314
AR CAID.
DE A disease characterized by dysregulation of the cardiac sinus node
DE resulting in sick sinus syndrome, in association with chronic
DE intestinal pseudo-obstruction, a disorder of gastrointestinal motility
DE in which intestinal obstruction occurs in the absence of a mechanical
DE obstacle.
DR MIM; 616201; phenotype.
DR MedGen; CN225197.
DR MeSH; D007418.
DR MeSH; D012804.
//
ID Chronic infantile neurologic cutaneous and articular syndrome.
AC DI-01349
AR CINCA.
DE Rare congenital inflammatory disorder characterized by a triad of
DE neonatal onset of cutaneous symptoms, chronic meningitis, and joint
DE manifestations with recurrent fever and inflammation.
SY CAPS3.
SY CINCA syndrome.
SY Cryopyrin-associated periodic syndrome 3.
SY Neonatal onset multisystem inflammatory disease.
SY NOMID.
DR MIM; 607115; phenotype.
DR MedGen; C0409818.
DR MeSH; D056587.
//
ID Chudley-McCullough syndrome.
AC DI-02897
AR CMCS.
DE An autosomal recessive neurologic disorder characterized by early-
DE onset sensorineural deafness and specific brain anomalies on MRI,
DE including hypoplasia of the corpus callosum, enlarged cysterna magna
DE with mild focal cerebellar dysplasia, and nodular heterotopia. Some
DE patients have hydrocephalus. Psychomotor development is normal.
SY Deafness autosomal recessive 82.
SY DFNB82.
SY Sensorineural deafness with partial agenesis of the corpus callosum and arachnoid cysts.
DR MIM; 604213; phenotype.
DR MedGen; C1858695.
DR MeSH; D006319.
DR MeSH; D016080.
DR MeSH; D061085.
KW KW-0209:Deafness.
//
ID Chung-Jansen syndrome.
AC DI-05259
AR CHUJANS.
DE An autosomal dominant disorder characterized by developmental delay,
DE intellectual disability, autistic features, anxiety, hypotonia,
DE obesity, and dysmorphic features.
SY Developmental delay, intellectual disability, obesity, and dysmorphic features.
SY DIDOD.
DR MIM; 617991; phenotype.
DR MedGen; CN248510.
DR MeSH; D009765.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Chylomicron retention disease.
AC DI-00308
AR CMRD.
DE An autosomal recessive disorder of severe fat malabsorption associated
DE with failure to thrive in infancy. The condition is characterized by
DE deficiency of fat-soluble vitamins, low blood cholesterol levels, and
DE a selective absence of chylomicrons from blood. Affected individuals
DE accumulate chylomicron-like particles in membrane-bound compartments
DE of enterocytes, which contain large cytosolic lipid droplets.
SY ANDD.
SY Anderson disease.
SY Hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells.
SY Lipid transport defect of intestine.
DR MIM; 246700; phenotype.
DR MedGen; C0795956.
DR MeSH; D006995.
DR MeSH; D008286.
//
ID Ciliary dyskinesia, primary, 1.
AC DI-00929
AR CILD1.
DE A disorder characterized by abnormalities of motile cilia. Respiratory
DE infections leading to chronic inflammation and bronchiectasis are
DE recurrent, due to defects in the respiratory cilia; reduced fertility
DE is often observed in male patients due to abnormalities of sperm
DE tails. Half of the patients exhibit randomization of left-right body
DE asymmetry and situs inversus, due to dysfunction of monocilia at the
DE embryonic node. Primary ciliary dyskinesia associated with situs
DE inversus is referred to as Kartagener syndrome.
SY ICS1.
SY Immotile cilia syndrome 1.
SY PCD.
SY Primary ciliary dyskinesia.
DR MIM; 244400; phenotype.
DR MedGen; C0022521.
DR MeSH; D002925.
DR MeSH; D007619.
KW KW-0990:Primary ciliary dyskinesia.
//
ID Ciliary dyskinesia, primary, 10.
AC DI-00934
AR CILD10.
DE A disorder characterized by abnormalities of motile cilia. Respiratory
DE infections leading to chronic inflammation and bronchiectasis are
DE recurrent, due to defects in the respiratory cilia; reduced fertility
DE is often observed in male patients due to abnormalities of sperm
DE tails. Half of the patients exhibit randomization of left-right body
DE asymmetry and situs inversus, due to dysfunction of monocilia at the
DE embryonic node. Primary ciliary dyskinesia associated with situs
DE inversus is referred to as Kartagener syndrome.
SY ICS10.
SY Immotile cilia syndrome 10.
SY Primary ciliary dyskinesia 10 with or without situs inversus.
DR MIM; 612518; phenotype.
DR MedGen; C2675867.
DR MeSH; D007619.
KW KW-1012:Kartagener syndrome.
//
ID Ciliary dyskinesia, primary, 11.
AC DI-02199
AR CILD11.
DE A disorder characterized by abnormalities of motile cilia. Respiratory
DE infections leading to chronic inflammation and bronchiectasis are
DE recurrent, due to defects in the respiratory cilia; reduced fertility
DE is often observed in male patients due to abnormalities of sperm
DE tails. Half of the patients exhibit situs inversus, due to dysfunction
DE of monocilia at the embryonic node and randomization of left-right
DE body asymmetry. Primary ciliary dyskinesia associated with situs
DE inversus is referred to as Kartagener syndrome.
SY ICS11.
SY Immotile cilia syndrome 11.
SY Primary ciliary dyskinesia 11 without situs inversus.
DR MIM; 612649; phenotype.
DR MedGen; C2675229.
DR MeSH; D007619.
KW KW-1012:Kartagener syndrome.
//
ID Ciliary dyskinesia, primary, 12.
AC DI-02200
AR CILD12.
DE A disorder characterized by abnormalities of motile cilia. Respiratory
DE infections leading to chronic inflammation and bronchiectasis are
DE recurrent, due to defects in the respiratory cilia; reduced fertility
DE is often observed in male patients due to abnormalities of sperm
DE tails. Half of the patients exhibit situs inversus, due to dysfunction
DE of monocilia at the embryonic node and randomization of left-right
DE body asymmetry. Primary ciliary dyskinesia associated with situs
DE inversus is referred to as Kartagener syndrome.
SY ICS12.
SY Immotile cilia syndrome 12.
SY Primary ciliary dyskinesia 12 without situs inversus.
DR MIM; 612650; phenotype.
DR MedGen; C2675228.
DR MeSH; D007619.
KW KW-1012:Kartagener syndrome.
//
ID Ciliary dyskinesia, primary, 13.
AC DI-02569
AR CILD13.
DE A disorder characterized by abnormalities of motile cilia. Respiratory
DE infections leading to chronic inflammation and bronchiectasis are
DE recurrent, due to defects in the respiratory cilia; reduced fertility
DE is often observed in male patients due to abnormalities of sperm
DE tails. Half of the patients exhibit randomization of left-right body
DE asymmetry and situs inversus, due to dysfunction of monocilia at the
DE embryonic node. Primary ciliary dyskinesia associated with situs
DE inversus is referred to as Kartagener syndrome. At ultrastructural
DE level, CILD13 is characterized by a marked reduction or absence of
DE both dynein arms from the patients cilia.
SY ICS13.
SY Immotile cilia syndrome 13.
SY Primary ciliary dyskinesia 13 with or without situs inversus.
DR MIM; 613193; phenotype.
DR MedGen; C2750790.
DR MeSH; D007619.
KW KW-1012:Kartagener syndrome.
//
ID Ciliary dyskinesia, primary, 14.
AC DI-03024
AR CILD14.
DE A disorder characterized by abnormalities of motile cilia. Respiratory
DE infections leading to chronic inflammation and bronchiectasis are
DE recurrent, due to defects in the respiratory cilia; reduced fertility
DE is often observed in male patients due to abnormalities of sperm
DE tails. Half of the patients exhibit randomization of left-right body
DE asymmetry and situs inversus, due to dysfunction of monocilia at the
DE embryonic node. Primary ciliary dyskinesia associated with situs
DE inversus is referred to as Kartagener syndrome.
SY ICS14.
SY Immotile cilia syndrome 14.
SY Primary ciliary dyskinesia 14 with or without situs inversus.
DR MIM; 613807; phenotype.
DR MedGen; C3151136.
DR MeSH; D007619.
KW KW-1012:Kartagener syndrome.
//
ID Ciliary dyskinesia, primary, 15.
AC DI-03025
AR CILD15.
DE A disorder characterized by abnormalities of motile cilia. Respiratory
DE infections leading to chronic inflammation and bronchiectasis are
DE recurrent, due to defects in the respiratory cilia; reduced fertility
DE is often observed in male patients due to abnormalities of sperm
DE tails. Half of the patients exhibit randomization of left-right body
DE asymmetry and situs inversus, due to dysfunction of monocilia at the
DE embryonic node. Primary ciliary dyskinesia associated with situs
DE inversus is referred to as Kartagener syndrome.
SY ICS15.
SY Immotile cilia syndrome 15.
SY Primary ciliary dyskinesia 15 with or without situs inversus.
DR MIM; 613808; phenotype.
DR MedGen; C3151137.
DR MeSH; D007619.
KW KW-1012:Kartagener syndrome.
//
ID Ciliary dyskinesia, primary, 16.
AC DI-03134
AR CILD16.
DE A disorder characterized by abnormalities of motile cilia. Respiratory
DE infections leading to chronic inflammation and bronchiectasis are
DE recurrent, due to defects in the respiratory cilia; reduced fertility
DE is often observed in male patients due to abnormalities of sperm
DE tails. Half of the patients exhibit randomization of left-right body
DE asymmetry and situs inversus, due to dysfunction of monocilia at the
DE embryonic node. Primary ciliary dyskinesia associated with situs
DE inversus is referred to as Kartagener syndrome.
SY ICS16.
SY Immotile cilia syndrome 16.
SY Primary ciliary dyskinesia 16 with or without situs inversus.
DR MIM; 614017; phenotype.
DR MedGen; C3151460.
DR MeSH; D007619.
KW KW-1012:Kartagener syndrome.
//
ID Ciliary dyskinesia, primary, 17.
AC DI-03466
AR CILD17.
DE A disorder characterized by abnormalities of motile cilia. Respiratory
DE infections leading to chronic inflammation and bronchiectasis are
DE recurrent, due to defects in the respiratory cilia; reduced fertility
DE is often observed in male patients due to abnormalities of sperm
DE tails. Half of the patients exhibit randomization of left-right body
DE asymmetry and situs inversus, due to dysfunction of monocilia at the
DE embryonic node. Primary ciliary dyskinesia associated with situs
DE inversus is referred to as Kartagener syndrome.
SY ICS17.
SY Immotile cilia syndrome 17.
SY Primary ciliary dyskinesia 17 with or without situs inversus.
DR MIM; 614679; phenotype.
DR MedGen; C3542550.
DR MedGen; CN128721.
DR MeSH; D007619.
KW KW-1012:Kartagener syndrome.
//
ID Ciliary dyskinesia, primary, 18.
AC DI-03539
AR CILD18.
DE A disorder characterized by abnormalities of motile cilia. Respiratory
DE infections leading to chronic inflammation and bronchiectasis are
DE recurrent, due to defects in the respiratory cilia; reduced fertility
DE is often observed in male patients due to abnormalities of sperm
DE tails. Half of the patients exhibit randomization of left-right body
DE asymmetry and situs inversus, due to dysfunction of monocilia at the
DE embryonic node. Primary ciliary dyskinesia associated with situs
DE inversus is referred to as Kartagener syndrome.
SY ICS18.
SY Immotile cilia syndrome 18.
SY Primary ciliary dyskinesia 18 with or without situs inversus.
DR MIM; 614874; phenotype.
DR MedGen; C3543825.
DR MedGen; CN158803.
DR MeSH; D007619.
KW KW-1012:Kartagener syndrome.
//
ID Ciliary dyskinesia, primary, 19.
AC DI-03564
AR CILD19.
DE A disorder characterized by abnormalities of motile cilia. Respiratory
DE infections leading to chronic inflammation and bronchiectasis are
DE recurrent, due to defects in the respiratory cilia; reduced fertility
DE is often observed in male patients due to abnormalities of sperm
DE tails. Half of the patients exhibit randomization of left-right body
DE asymmetry and situs inversus, due to dysfunction of monocilia at the
DE embryonic node. Primary ciliary dyskinesia associated with situs
DE inversus is referred to as Kartagener syndrome.
SY ICS19.
SY Immotile cilia syndrome 19.
SY Primary ciliary dyskinesia 19 with or without situs inversus.
DR MIM; 614935; phenotype.
DR MedGen; C3543826.
DR MedGen; CN160616.
DR MeSH; D007619.
KW KW-1012:Kartagener syndrome.
//
ID Ciliary dyskinesia, primary, 2.
AC DI-03362
AR CILD2.
DE A disorder characterized by abnormalities of motile cilia. Respiratory
DE infections leading to chronic inflammation and bronchiectasis are
DE recurrent, due to defects in the respiratory cilia; reduced fertility
DE is often observed in male patients due to abnormalities of sperm
DE tails. Half of the patients exhibit randomization of left-right body
DE asymmetry and situs inversus, due to dysfunction of monocilia at the
DE embryonic node. Primary ciliary dyskinesia associated with situs
DE inversus is referred to as Kartagener syndrome.
SY ICS2.
SY Immotile cilia syndrome 2.
SY Primary ciliary dyskinesia 2 with or without situs inversus.
DR MIM; 606763; phenotype.
DR MedGen; C1847554.
DR MeSH; D002925.
DR MeSH; D007619.
KW KW-1012:Kartagener syndrome.
//
ID Ciliary dyskinesia, primary, 20.
AC DI-03643
AR CILD20.
DE A disorder characterized by abnormalities of motile cilia. Respiratory
DE infections leading to chronic inflammation and bronchiectasis are
DE recurrent, due to defects in the respiratory cilia. Patients may
DE exhibit randomization of left-right body asymmetry and situs inversus,
DE due to dysfunction of monocilia at the embryonic node. Primary ciliary
DE dyskinesia associated with situs inversus is referred to as Kartagener
DE syndrome. Unlike other forms of CILD characterized by reduced
DE fertility, patients with CILD20 do not appear to be infertile.
SY ICS20.
SY Immotile cilia syndrome 20.
SY Primary ciliary dyskinesia 20 with or without situs inversus.
DR MIM; 615067; phenotype.
DR MedGen; C3540844.
DR MedGen; CN165472.
DR MeSH; D007619.
KW KW-1012:Kartagener syndrome.
//
ID Ciliary dyskinesia, primary, 21.
AC DI-03807
AR CILD21.
DE A disorder characterized by abnormalities of motile cilia. Respiratory
DE infections leading to chronic inflammation and bronchiectasis are
DE recurrent, due to defects in the respiratory cilia. Patients may
DE exhibit randomization of left-right body asymmetry and situs inversus,
DE due to dysfunction of monocilia at the embryonic node. Primary ciliary
DE dyskinesia associated with situs inversus is referred to as Kartagener
DE syndrome.
SY Primary ciliary dyskinesia 21 without situs inversus.
DR MIM; 615294; phenotype.
DR MedGen; C3809087.
DR MedGen; CN177725.
DR MeSH; D007619.
KW KW-0990:Primary ciliary dyskinesia.
//
ID Ciliary dyskinesia, primary, 22.
AC DI-03904
AR CILD22.
DE A disorder characterized by abnormalities of motile cilia. Respiratory
DE infections leading to chronic inflammation and bronchiectasis are
DE recurrent, due to defects in the respiratory cilia. Patients may
DE exhibit randomization of left-right body asymmetry and situs inversus,
DE due to dysfunction of monocilia at the embryonic node. Primary ciliary
DE dyskinesia associated with situs inversus is referred to as Kartagener
DE syndrome.
SY Primary ciliary dyskinesia 22 with or without situs inversus.
DR MIM; 615444; phenotype.
DR MedGen; C3809543.
DR MedGen; CN180179.
DR MeSH; D007619.
KW KW-1012:Kartagener syndrome.
//
ID Ciliary dyskinesia, primary, 23.
AC DI-03903
AR CILD23.
DE A disorder characterized by abnormalities of motile cilia. Respiratory
DE infections leading to chronic inflammation and bronchiectasis are
DE recurrent, due to defects in the respiratory cilia. Patients may
DE exhibit randomization of left-right body asymmetry and situs inversus,
DE due to dysfunction of monocilia at the embryonic node. Primary ciliary
DE dyskinesia associated with situs inversus is referred to as Kartagener
DE syndrome.
SY Primary ciliary dyskinesia 23 with or without situs inversus.
DR MIM; 615451; phenotype.
DR MedGen; C3809548.
DR MedGen; CN180185.
DR MeSH; D007619.
KW KW-1012:Kartagener syndrome.
//
ID Ciliary dyskinesia, primary, 24.
AC DI-03916
AR CILD24.
DE A disorder characterized by abnormalities of motile cilia. Respiratory
DE infections leading to chronic inflammation and bronchiectasis are
DE recurrent, due to defects in the respiratory cilia. Situs inversus is
DE not observed in CILD24 patients.
DR MIM; 615481; phenotype.
DR MedGen; C3809634.
DR MedGen; CN180199.
DR MeSH; D002925.
KW KW-0990:Primary ciliary dyskinesia.
//
ID Ciliary dyskinesia, primary, 25.
AC DI-03917
AR CILD25.
DE A disorder characterized by abnormalities of motile cilia. Respiratory
DE infections leading to chronic inflammation and bronchiectasis are
DE recurrent, due to defects in the respiratory cilia. Patients may
DE exhibit randomization of left-right body asymmetry and situs inversus,
DE due to dysfunction of monocilia at the embryonic node. Primary ciliary
DE dyskinesia associated with situs inversus is referred to as Kartagener
DE syndrome.
SY Primary ciliary dyskinesia 25 with or without situs inversus.
DR MIM; 615482; phenotype.
DR MedGen; C3809641.
DR MedGen; CN180234.
DR MeSH; D007619.
KW KW-1012:Kartagener syndrome.
//
ID Ciliary dyskinesia, primary, 26.
AC DI-03936
AR CILD26.
DE A disorder characterized by abnormalities of motile cilia. Respiratory
DE infections leading to chronic inflammation and bronchiectasis are
DE recurrent, due to defects in the respiratory cilia. Patients may
DE exhibit randomization of left-right body asymmetry and situs inversus,
DE due to dysfunction of monocilia at the embryonic node. Primary ciliary
DE dyskinesia associated with situs inversus is referred to as Kartagener
DE syndrome.
SY Primary ciliary dyskinesia 26 with or without situs inversus.
DR MIM; 615500; phenotype.
DR MedGen; C3809684.
DR MedGen; CN181205.
DR MeSH; D007619.
KW KW-1012:Kartagener syndrome.
//
ID Ciliary dyskinesia, primary, 27.
AC DI-03938
AR CILD27.
DE A disorder characterized by abnormalities of motile cilia. Respiratory
DE infections leading to chronic inflammation and bronchiectasis are
DE recurrent, due to defects in the respiratory cilia. Patients may
DE exhibit randomization of left-right body asymmetry and situs inversus,
DE due to dysfunction of monocilia at the embryonic node. Primary ciliary
DE dyskinesia associated with situs inversus is referred to as Kartagener
DE syndrome.
SY Primary ciliary dyskinesia 27 with or without situs inversus.
DR MIM; 615504; phenotype.
DR MedGen; C3809701.
DR MedGen; CN181206.
DR MeSH; D007619.
KW KW-1012:Kartagener syndrome.
//
ID Ciliary dyskinesia, primary, 28.
AC DI-03944
AR CILD28.
DE A disorder characterized by abnormalities of motile cilia. Respiratory
DE infections leading to chronic inflammation and bronchiectasis are
DE recurrent, due to defects in the respiratory cilia. Patients may
DE exhibit randomization of left-right body asymmetry and situs inversus,
DE due to dysfunction of monocilia at the embryonic node. Primary ciliary
DE dyskinesia associated with situs inversus is referred to as Kartagener
DE syndrome.
SY Primary ciliary dyskinesia 28 with or without situs inversus.
DR MIM; 615505; phenotype.
DR MedGen; C3809706.
DR MedGen; CN181207.
DR MeSH; D007619.
KW KW-1012:Kartagener syndrome.
//
ID Ciliary dyskinesia, primary, 29.
AC DI-04144
AR CILD29.
DE A disorder characterized by abnormalities of motile cilia. Respiratory
DE infections leading to chronic inflammation and bronchiectasis are
DE recurrent, due to defects in the respiratory cilia. CILD29 patients do
DE not exhibit situs inversus, a congenital abnormality in which visceral
DE organs are opposite to their normal positions (situs solitus) due to
DE lateral transposition.
SY Primary ciliary dyskinesia without situs inversus.
DR MIM; 615872; phenotype.
DR MedGen; CN189713.
DR MeSH; D007619.
KW KW-0990:Primary ciliary dyskinesia.
//
ID Ciliary dyskinesia, primary, 3.
AC DI-00930
AR CILD3.
DE A disorder characterized by abnormalities of motile cilia. Respiratory
DE infections leading to chronic inflammation and bronchiectasis are
DE recurrent, due to defects in the respiratory cilia; reduced fertility
DE is often observed in male patients due to abnormalities of sperm
DE tails. Half of the patients exhibit randomization of left-right body
DE asymmetry and situs inversus, due to dysfunction of monocilia at the
DE embryonic node. Primary ciliary dyskinesia associated with situs
DE inversus is referred to as Kartagener syndrome.
SY Ciliary dyskinesia, primary, 3, with or without situs inversus.
SY ICS3.
SY Immotile cilia syndrome 3.
DR MIM; 608644; phenotype.
DR MedGen; C1837618.
DR MeSH; D007619.
KW KW-1012:Kartagener syndrome.
//
ID Ciliary dyskinesia, primary, 30.
AC DI-04247
AR CILD30.
DE A disorder characterized by abnormalities of motile cilia. Respiratory
DE infections leading to chronic inflammation and bronchiectasis are
DE recurrent, due to defects in the respiratory cilia. Patients may
DE exhibit randomization of left-right body asymmetry and situs inversus,
DE due to dysfunction of monocilia at the embryonic node. Primary ciliary
DE dyskinesia associated with situs inversus is referred to as Kartagener
DE syndrome.
SY Primary ciliary dyskinesia 30 with or without situs inversus.
DR MIM; 616037; phenotype.
DR MedGen; CN219801.
DR MeSH; D007619.
KW KW-1012:Kartagener syndrome.
//
ID Ciliary dyskinesia, primary, 32.
AC DI-04489
AR CILD32.
DE A disorder characterized by abnormalities of motile cilia. Respiratory
DE infections leading to chronic inflammation and bronchiectasis are
DE recurrent, due to defects in the respiratory cilia.
SY Ciliary dyskinesia, primary, 32, without situs inversus.
DR MIM; 616481; phenotype.
DR MedGen; CN231728.
DR MeSH; D007619.
KW KW-0990:Primary ciliary dyskinesia.
//
ID Ciliary dyskinesia, primary, 33.
AC DI-04621
AR CILD33.
DE A form of primary ciliary dyskinesia, a disorder characterized by
DE abnormalities of motile cilia. Respiratory infections leading to
DE chronic inflammation and bronchiectasis are recurrent, due to defects
DE in the respiratory cilia. CILD33 inheritance is autosomal recessive.
SY Ciliary dyskinesia, primary, 33, without situs inversus.
DR MIM; 616726; phenotype.
DR MedGen; CN234871.
DR MeSH; D007619.
KW KW-0990:Primary ciliary dyskinesia.
//
ID Ciliary dyskinesia, primary, 34.
AC DI-04822
AR CILD34.
DE A form of primary ciliary dyskinesia, a disorder characterized by
DE abnormalities of motile cilia. Respiratory infections leading to
DE chronic inflammation and bronchiectasis are recurrent, due to defects
DE in the respiratory cilia. CILD34 inheritance is autosomal recessive.
DR MIM; 617091; phenotype.
DR MedGen; CN238099.
DR MeSH; D007619.
KW KW-0990:Primary ciliary dyskinesia.
//
ID Ciliary dyskinesia, primary, 35.
AC DI-04827
AR CILD35.
DE A form of primary ciliary dyskinesia, a disorder characterized by
DE abnormalities of motile cilia. Respiratory infections leading to
DE chronic inflammation and bronchiectasis are recurrent, due to defects
DE in the respiratory cilia. Some patients exhibit randomization of left-
DE right body asymmetry and situs inversus. Primary ciliary dyskinesia
DE associated with situs inversus is referred to as Kartagener syndrome.
DE CILD35 inheritance is autosomal recessive.
SY Ciliary dyskinesia, primary, 35 with or without situs inversus.
SY Primary ciliary dyskinesia 35 with or without situs inversus.
DR MIM; 617092; phenotype.
DR MedGen; CN238358.
DR MeSH; D007619.
KW KW-1012:Kartagener syndrome.
//
ID Ciliary dyskinesia, primary, 36, X-linked.
AC DI-04940
AR CILD36.
DE A form of primary ciliary dyskinesia, a disorder characterized by
DE abnormalities of motile cilia. Respiratory infections leading to
DE chronic inflammation and bronchiectasis are recurrent, due to defects
DE in the respiratory cilia. Some patients exhibit randomization of left-
DE right body asymmetry and situs inversus. Primary ciliary dyskinesia
DE associated with situs inversus is referred to as Kartagener syndrome.
DE CILD36 inheritance is X-linked recessive. About half of CILD36
DE patients have laterality defects due to ciliary dysfunction at the
DE embryonic node.
SY Ciliary dyskinesia, primary, 36, with or without situs inversus.
DR MIM; 300991; phenotype.
DR MedGen; CN240511.
DR MeSH; D007619.
KW KW-1012:Kartagener syndrome.
//
ID Ciliary dyskinesia, primary, 37.
AC DI-05029
AR CILD37.
DE A form of primary ciliary dyskinesia, a disorder characterized by
DE abnormalities of motile cilia. Respiratory infections leading to
DE chronic inflammation and bronchiectasis are recurrent, due to defects
DE in the respiratory cilia. Some patients exhibit randomization of left-
DE right body asymmetry and situs inversus. Primary ciliary dyskinesia
DE associated with situs inversus is referred to as Kartagener syndrome.
DE CILD37 inheritance is autosomal recessive.
SY Ciliary dyskinesia, primary, 37, with or without situs inversus.
DR MIM; 617577; phenotype.
DR MedGen; CN337167.
DR MeSH; D007619.
KW KW-1012:Kartagener syndrome.
//
ID Ciliary dyskinesia, primary, 38.
AC DI-05283
AR CILD38.
DE A form of primary ciliary dyskinesia, a disorder characterized by
DE abnormalities of motile cilia. Respiratory infections leading to
DE chronic inflammation and bronchiectasis are recurrent, due to defects
DE in the respiratory cilia. Some patients exhibit randomization of left-
DE right body asymmetry and situs inversus. Primary ciliary dyskinesia
DE associated with situs inversus is referred to as Kartagener syndrome.
DE CILD38 inheritance is autosomal recessive.
SY Ciliary dyskinesia, primary, 38, with or without situs inversus.
DR MIM; 618063; phenotype.
DR MedGen; CN252651.
DR MeSH; D007619.
KW KW-1012:Kartagener syndrome.
//
ID Ciliary dyskinesia, primary, 39.
AC DI-05437
AR CILD39.
DE A form of primary ciliary dyskinesia, a disorder characterized by
DE abnormalities of motile cilia. Respiratory infections leading to
DE chronic inflammation and bronchiectasis are recurrent, due to defects
DE in the respiratory cilia. Some patients exhibit randomization of left-
DE right body asymmetry and situs inversus. Primary ciliary dyskinesia
DE associated with situs inversus is referred to as Kartagener syndrome.
DE CILD39 inheritance is autosomal recessive.
SY Ciliary dyskinesia, primary, 39, with or without situs inversus.
DR MIM; 618254; phenotype.
DR MedGen; CN257535.
DR MeSH; D007619.
KW KW-1012:Kartagener syndrome.
//
ID Ciliary dyskinesia, primary, 40.
AC DI-05451
AR CILD40.
DE A form of primary ciliary dyskinesia, a disorder characterized by
DE abnormalities of motile cilia. Respiratory infections leading to
DE chronic inflammation and bronchiectasis are recurrent, due to defects
DE in the respiratory cilia. Some patients exhibit randomization of left-
DE right body asymmetry and situs inversus. Primary ciliary dyskinesia
DE associated with situs inversus is referred to as Kartagener syndrome.
DE CILD40 inheritance is autosomal recessive.
SY Ciliary dyskinesia, primary, 40, with or without situs inversus.
DR MIM; 618300; phenotype.
DR MedGen; CN258165.
DR MeSH; D007619.
KW KW-1012:Kartagener syndrome.
//
ID Ciliary dyskinesia, primary, 41.
AC DI-05575
AR CILD41.
DE A form of primary ciliary dyskinesia, a disorder characterized by
DE abnormalities of motile cilia. Respiratory infections leading to
DE chronic inflammation and bronchiectasis are recurrent, due to defects
DE in the respiratory cilia. CILD41 inheritance is autosomal recessive.
DR MIM; 618449; phenotype.
DR MedGen; CN258815.
DR MeSH; D002925.
KW KW-0990:Primary ciliary dyskinesia.
//
ID Ciliary dyskinesia, primary, 42.
AC DI-05714
AR CILD42.
DE A form of primary ciliary dyskinesia, a disorder characterized by
DE abnormalities of motile cilia. Respiratory infections leading to
DE chronic inflammation and bronchiectasis are recurrent, due to defects
DE in the respiratory cilia. Other more variable features may include
DE infertility and mild hydrocephalus. Patients with this form of the
DE disorder do not have situs abnormalities. CILD42 inheritance is
DE autosomal recessive.
SY Ciliary dyskinesia, primary, 42, without situs inversus.
DR MIM; 618695; phenotype.
DR MedGen; CN263051.
DR MeSH; D002925.
KW KW-0990:Primary ciliary dyskinesia.
//
ID Ciliary dyskinesia, primary, 43.
AC DI-05715
AR CILD43.
DE A form of primary ciliary dyskinesia, a disorder characterized by
DE abnormalities of motile cilia. Respiratory infections leading to
DE chronic inflammation and bronchiectasis are recurrent, due to defects
DE in the respiratory cilia. Patients with this disorder also develop
DE significant obstructive hydrocephalus. Other more variable features
DE include infertility and about a 50% chance of situs inversus or other
DE left-right asymmetry defects. CILD43 inheritance is autosomal
DE dominant.
SY Ciliary dyskinesia, primary, 43 with or without situs inversus.
DR MIM; 618699; phenotype.
DR MedGen; CN263052.
DR MeSH; D002925.
KW KW-0990:Primary ciliary dyskinesia.
//
ID Ciliary dyskinesia, primary, 44.
AC DI-05765
AR CILD44.
DE A form of primary ciliary dyskinesia, a disorder characterized by
DE abnormalities of motile cilia. Respiratory infections leading to
DE chronic inflammation and bronchiectasis are recurrent, due to defects
DE in the respiratory cilia. CILD44 inheritance is autosomal recessive.
SY Ciliary dyskinesia, primary, 44 without situs inversus.
DR MIM; 618781; phenotype.
DR MedGen; CN263303.
DR MeSH; D002925.
KW KW-0990:Primary ciliary dyskinesia.
//
ID Ciliary dyskinesia, primary, 45.
AC DI-05780
AR CILD45.
DE A form of primary ciliary dyskinesia, a disorder characterized by
DE abnormalities of motile cilia. Respiratory infections leading to
DE chronic inflammation and bronchiectasis are recurrent, due to defects
DE in the respiratory cilia. CILD45 is an autosomal recessive form
DE characterized by onset of symptoms in infancy or early childhood. Male
DE patients have infertility due to immotile sperm.
SY Ciliary dyskinesia, primary, 45, without situs inversus.
DR MIM; 618801; phenotype.
DR MedGen; CN263351.
DR MeSH; D002925.
KW KW-0990:Primary ciliary dyskinesia.
//
ID Ciliary dyskinesia, primary, 46.
AC DI-06168
AR CILD46.
DE A form of primary ciliary dyskinesia, a disorder characterized by
DE abnormalities of motile cilia. Respiratory infections leading to
DE chronic inflammation and bronchiectasis are recurrent, due to defects
DE in the respiratory cilia. CILD46 is an autosomal recessive form. No
DE situs abnormalities have been observed.
DR MIM; 619436; phenotype.
DR MedGen; CN299795.
DR MeSH; D002925.
KW KW-0990:Primary ciliary dyskinesia.
//
ID Ciliary dyskinesia, primary, 47, and lissencephaly.
AC DI-06185
AR CILD47.
DE A form of primary ciliary dyskinesia, a disorder characterized by
DE abnormalities of motile cilia. Respiratory infections leading to
DE chronic inflammation and bronchiectasis are recurrent, due to defects
DE in the respiratory cilia. CILD47 is an autosomal recessive form
DE characterized by onset soon after birth or in early childhood.
DE Affected individuals also have neurologic features, such as impaired
DE intellectual development and central hypotonia, associated with
DE structural brain abnormalities, most notably lissencephaly and thin or
DE absent corpus callosum. No situs abnormalities have been observed.
DR MIM; 619466; phenotype.
DR MedGen; CN300320.
DR MeSH; D002925.
KW KW-0451:Lissencephaly.
KW KW-0990:Primary ciliary dyskinesia.
//
ID Ciliary dyskinesia, primary, 5.
AC DI-03560
AR CILD5.
DE An autosomal recessive form of primary dyskinesia, a disorder
DE characterized by abnormalities of motile cilia. Respiratory infections
DE leading to chronic inflammation and bronchiectasis are recurrent, due
DE to defects in the respiratory cilia; reduced fertility is often
DE observed in male patients due to abnormalities of sperm tails. Half of
DE the patients exhibit randomization of left-right body asymmetry and
DE situs inversus, due to dysfunction of monocilia at the embryonic node.
DE Primary ciliary dyskinesia associated with situs inversus is referred
DE to as Kartagener syndrome. CILD5 is characterized by early onset of a
DE progressive decline in lung function due to an inability to clear
DE mucus and particles from the airways. Affected individuals have
DE recurrent infections of the sinuses, ears, airways, and lungs. Sperm
DE motility is also decreased. Individuals with CILD5 do not have situs
DE inversus.
SY ICS5.
SY Immotile cilia syndrome 5.
SY Primary ciliary dyskinesia 5 with or without situs inversus.
DR MIM; 608647; phenotype.
DR MedGen; C1837615.
DR MeSH; D007619.
KW KW-1012:Kartagener syndrome.
//
ID Ciliary dyskinesia, primary, 6.
AC DI-00931
AR CILD6.
DE A disorder characterized by abnormalities of motile cilia. Respiratory
DE infections leading to chronic inflammation and bronchiectasis are
DE recurrent, due to defects in the respiratory cilia; reduced fertility
DE is often observed in male patients due to abnormalities of sperm
DE tails. Half of the patients exhibit randomization of left-right body
DE asymmetry and situs inversus, due to dysfunction of monocilia at the
DE embryonic node. Primary ciliary dyskinesia associated with situs
DE inversus is referred to as Kartagener syndrome.
SY ICS6.
SY Immotile cilia syndrome 6.
DR MIM; 610852; phenotype.
DR MedGen; C1970506.
DR MeSH; D007619.
KW KW-0990:Primary ciliary dyskinesia.
//
ID Ciliary dyskinesia, primary, 7.
AC DI-00932
AR CILD7.
DE A disorder characterized by abnormalities of motile cilia. Respiratory
DE infections leading to chronic inflammation and bronchiectasis are
DE recurrent, due to defects in the respiratory cilia; reduced fertility
DE is often observed in male patients due to abnormalities of sperm
DE tails. Half of the patients exhibit randomization of left-right body
DE asymmetry and situs inversus, due to dysfunction of monocilia at the
DE embryonic node. Primary ciliary dyskinesia associated with situs
DE inversus is referred to as Kartagener syndrome.
SY ICS7.
SY Immotile cilia syndrome 7.
DR MIM; 611884; phenotype.
DR MedGen; C2678473.
DR MeSH; D007619.
KW KW-0990:Primary ciliary dyskinesia.
//
ID Ciliary dyskinesia, primary, 9.
AC DI-00933
AR CILD9.
DE A disorder characterized by abnormalities of motile cilia. Respiratory
DE infections leading to chronic inflammation and bronchiectasis are
DE recurrent, due to defects in the respiratory cilia; reduced fertility
DE is often observed in male patients due to abnormalities of sperm
DE tails. Half of the patients exhibit randomization of left-right body
DE asymmetry and situs inversus, due to dysfunction of monocilia at the
DE embryonic node. Primary ciliary dyskinesia associated with situs
DE inversus is referred to as Kartagener syndrome.
SY ICS9.
SY Immotile cilia syndrome 9.
SY Primary ciliary dyskinesia 9 with or without situs inversus.
DR MIM; 612444; phenotype.
DR MedGen; C2676235.
DR MeSH; D007619.
KW KW-1012:Kartagener syndrome.
//
ID CIMDAG syndrome.
AC DI-06081
AR CIMDAG.
DE An autosomal dominant syndrome characterized by global developmental
DE delay, severely impaired intellectual development, poor or absent
DE speech, microcephaly, growth retardation, poor motor skills with
DE inability to walk, hypotonia and spasticity, and cataracts. Cerebral
DE and cerebellar atrophy, thin corpus callosum, and delayed myelination
DE are apparent on brain imaging. Affected individuals show hematologic
DE abnormalities mostly consistent with congenital dyserythropoietic
DE anemia.
SY Cerebellar hypoplasia, cataracts, impaired intellectual development, congenital microcephaly, dystonia, dyserythropoietic anemia, and growth retardation.
DR MIM; 619273; phenotype.
DR MedGen; CN296467.
DR MeSH; D000740.
DR MeSH; D065886.
KW KW-0898:Cataract.
KW KW-0991:Intellectual disability.
KW KW-1055:Congenital dyserythropoietic anemia.
//
ID Cirrhosis.
AC DI-01454
AR CIRRH.
DE A liver disease characterized by severe panlobular liver-cell swelling
DE with Mallory body formation, prominent pericellular fibrosis, and
DE marked deposits of copper. Clinical features include abdomen swelling,
DE jaundice and pulmonary hypertension.
SY Cryptogenic cirrhosis.
DR MIM; 215600; phenotype.
DR MedGen; C0267809.
DR MedGen; C0268074.
DR MedGen; C1835713.
DR MedGen; C1859088.
DR MedGen; C1861556.
DR MedGen; C1876164.
DR MedGen; C1876165.
DR MedGen; C1876166.
//
ID Citrullinemia 1.
AC DI-00309
AR CTLN1.
DE The classic form of citrullinemia, an autosomal recessive disease
DE characterized primarily by elevated serum and urine citrulline levels.
DE Ammonia intoxication is another manifestation. It is a disorder of the
DE urea cycle, usually manifesting in the first few days of life.
DE Affected infants appear normal at birth, but as ammonia builds up in
DE the body they present symptoms such as lethargy, poor feeding,
DE vomiting, seizures and loss of consciousness. Less commonly, a milder
DE form can develop later in childhood or adulthood.
SY Argininosuccinate synthetase deficiency.
SY ASS deficiency.
SY Citrullinemia type I.
SY Citrullinuria.
SY Classic citrullinemia.
DR MIM; 215700; phenotype.
DR MedGen; C0175683.
DR MeSH; D020159.
//
ID Citrullinemia 2.
AC DI-00310
AR CTLN2.
DE A form of citrullinemia, an autosomal recessive disease characterized
DE primarily by elevated serum and urine citrulline levels. Ammonia
DE intoxication is another manifestation. Citrullinemia type 2 is
DE characterized by neuropsychiatric symptoms including abnormal
DE behaviors, loss of memory, seizures and coma. Death can result from
DE brain edema. Onset is sudden and usually between the ages of 20 and 50
DE years.
SY Adult-onset citrullinemia type 2.
SY Citrin deficiency.
SY Citrullinemia type II.
DR MIM; 603471; phenotype.
DR MedGen; C1863844.
DR MeSH; D056806.
//
ID CK syndrome.
AC DI-03007
AR CKS.
DE An X-linked recessive disorder characterized by mild to severe
DE cognitive impairment, seizures, microcephaly, cerebral cortical
DE malformations, dysmorphic facial features, and thin body habitus.
DR MIM; 300831; phenotype.
DR MedGen; C3151781.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID CLAPO syndrome.
AC DI-05367
AR CLAPO.
DE A syndrome characterized by capillary malformation of the lower lip,
DE lymphatic malformation of the face and neck, asymmetry of face and
DE limbs and partial or generalised overgrowth.
SY Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth.
SY Lopez-Gutierrez syndrome.
DR MIM; 613089; phenotype.
DR MedGen; C2751313.
DR MeSH; D000015.
//
ID Clark-Baraitser syndrome.
AC DI-05132
AR CLABARS.
DE An autosomal dominant disease characterized by intellectual
DE disability, delayed psychomotor development, behavioral abnormalities,
DE variable dysmorphic facial features, tall stature, obesity, and
DE macrocephaly.
SY MRD49.
DR MIM; 617752; phenotype.
DR MedGen; CN593636.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Cleft palate isolated.
AC DI-01837
AR CPI.
DE A congenital fissure of the soft and/or hard palate, due to faulty
DE fusion. Isolated cleft palate is not associated with cleft lips. Some
DE patients may manifest other craniofacial dysmorphic features,
DE intellectual disability, and osteoporosis.
SY CP.
DR MIM; 119540; phenotype.
DR MedGen; C0008925.
DR MedGen; C1837218.
DR MedGen; C1970095.
DR MeSH; D002972.
//
ID Cleft palate with or without ankyloglossia, X-linked.
AC DI-02436
AR CPX.
DE A congenital mouth abnormality characterized by fissure of the soft
DE and/or hard palate, due to faulty fusion. Some patients also manifest
DE ankyloglossia, a condition in which movements of the tongue are
DE restricted. Complete ankyloglossia is due to fusion between the tongue
DE and the floor of the mouth. Partial ankyloglossia is due to a short
DE lingual frenum or one which is attached too near the tip of the
DE tongue.
SY X-linked cleft palate with ankyloglossia.
DR MIM; 303400; phenotype.
DR MedGen; C1844830.
DR MedGen; C1844831.
DR MeSH; D002972.
//
ID Cleft palate, cardiac defects, and intellectual disability.
AC DI-05007
AR CPCMR.
DE An autosomal dominant disease characterized by multiple congenital
DE malformations, mild-to-severe intellectual disability with poor
DE speech, and delayed psychomotor development. Congenital malformations
DE include heart defects, cleft lip/palate, distally-placed thumbs and
DE toes, and cutaneous syndactyly between the second and third toes.
SY Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies.
DR MIM; 600987; phenotype.
DR MedGen; C1832950.
DR MeSH; D000015.
KW KW-0991:Intellectual disability.
//
ID Cleft palate, proliferative retinopathy, and developmental delay.
AC DI-05947
AR CPPRDD.
DE An autosomal recessive disorder characterized by mild to severe
DE intellectual disability with delayed or absent speech, hypotonia,
DE cleft palate, proliferative retinopathy, and combined sensorineural
DE and conductive hearing loss. Brain imaging shows ventriculomegaly,
DE widened subarachnoid spaces, partial agenesis of the corpus callosum,
DE hypoplastic cerebellar vermis, and Dandy Walker malformation.
DR MIM; 619074; phenotype.
DR MedGen; CN293411.
DR MeSH; D002972.
KW KW-0991:Intellectual disability.
//
ID Cleft palate, psychomotor retardation, and distinctive facial features.
AC DI-04622
AR CPRF.
DE A syndrome characterized by cleft palate, developmental delay,
DE psychomotor retardation, and facial dysmorphic features including a
DE prominent forehead, slightly arched eyebrows, elongated palpebral
DE fissures, a wide nasal bridge, thin lips, and widely spaced teeth.
DE Cleft palate is a congenital fissure of the soft and/or hard palate,
DE due to faulty fusion.
DR MIM; 616728; phenotype.
DR MedGen; CN234733.
DR MeSH; D002972.
//
ID Cleidocranial dysplasia.
AC DI-01353
AR CLCD.
DE Autosomal dominant skeletal disorder with high penetrance and variable
DE expressivity. It is due to defective endochondral and intramembranous
DE bone formation. Typical features include hypoplasia/aplasia of
DE clavicles, patent fontanelles, wormian bones (additional cranial
DE plates caused by abnormal ossification of the calvaria), supernumerary
DE teeth, short stature, and other skeletal changes. In some cases
DE defects in RUNX2 are exclusively associated with dental anomalies.
SY CCD.
SY Cleidocranial dysostosis.
DR MIM; 119600; phenotype.
DR MedGen; C0008928.
DR MedGen; C1838416.
DR MedGen; C1861516.
//
ID Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly.
AC DI-01396
AR CCF.
DE A congenital limb deformity defined as fixation of the foot in cavus,
DE adductus, varus, and equinus (i.e., inclined inwards, axially rotated
DE outwards, and pointing downwards) with concomitant soft tissue
DE abnormalities. Clubfoot may occur in isolation or as part of a
DE syndrome. Some patients present tibial hemimelia, bilateral patellar
DE hypoplasia, and preaxial mirror-image polydactyly.
SY Talipes equinovarus.
SY TEV.
DR MIM; 119800; phenotype.
DR MedGen; C0009081.
DR MeSH; D003025.
//
ID COACH syndrome 1.
AC DI-02835
AR COACH1.
DE A form of COACH syndrome, a disorder characterized by cerebellar
DE vermis hypoplasia, developmental delay, impaired intellectual
DE development, ataxia, and hepatic fibrosis. Patients present the molar
DE tooth sign, a midbrain-hindbrain malformation pathognomonic for
DE Joubert syndrome and related disorders. Other features, such as
DE coloboma and renal cysts, may be variable. COACH1 inheritance is
DE autosomal recessive.
SY Cerebellar vermis hypo/aplasia oligophrenia congenital ataxia ocular coloboma and hepatic fibrosis.
SY COACH syndrome.
SY Joubert syndrome with congenital hepatic fibrosis.
DR MIM; 216360; phenotype.
DR MedGen; C1857662.
DR MeSH; D001259.
DR MeSH; D002526.
DR MeSH; D003103.
DR MeSH; D008107.
KW KW-0979:Joubert syndrome.
KW KW-1186:Ciliopathy.
//
ID COACH syndrome 2.
AC DI-05978
AR COACH2.
DE A form of COACH syndrome, a disorder characterized by cerebellar
DE vermis hypoplasia, developmental delay, impaired intellectual
DE development, ataxia, and hepatic fibrosis. Patients present the molar
DE tooth sign, a midbrain-hindbrain malformation pathognomonic for
DE Joubert syndrome and related disorders. Other features, such as
DE coloboma and renal cysts, may be variable. COACH2 inheritance is
DE autosomal recessive.
DR MIM; 619111; phenotype.
DR MedGen; CN293566.
DR MeSH; D001259.
DR MeSH; D002526.
DR MeSH; D003103.
DR MeSH; D008107.
KW KW-0979:Joubert syndrome.
KW KW-1186:Ciliopathy.
//
ID COACH syndrome 3.
AC DI-05979
AR COACH3.
DE A form of COACH syndrome, a disorder characterized by cerebellar
DE vermis hypoplasia, developmental delay, impaired intellectual
DE development, ataxia, and hepatic fibrosis. Patients present the molar
DE tooth sign, a midbrain-hindbrain malformation pathognomonic for
DE Joubert syndrome and related disorders. Other features, such as
DE coloboma and renal cysts, may be variable. COACH3 inheritance is
DE autosomal recessive.
DR MIM; 619113; phenotype.
DR MedGen; CN293567.
DR MeSH; D001259.
DR MeSH; D002526.
DR MeSH; D003103.
DR MeSH; D008107.
KW KW-0979:Joubert syndrome.
KW KW-1186:Ciliopathy.
//
ID Cockayne syndrome A.
AC DI-00311
AR CSA.
DE A rare disorder characterized by cutaneous sensitivity to sunlight,
DE abnormal and slow growth, cachectic dwarfism, progeroid appearance,
DE progressive pigmentary retinopathy and sensorineural deafness. There
DE is delayed neural development and severe progressive neurologic
DE degeneration resulting in intellectual disability. Two clinical forms
DE are recognized: in the classical form or Cockayne syndrome type 1, the
DE symptoms are progressive and typically become apparent within the
DE first few years or life; the less common Cockayne syndrome type 2 is
DE characterized by more severe symptoms that manifest prenatally.
DE Cockayne syndrome shows some overlap with certain forms of xeroderma
DE pigmentosum. Unlike xeroderma pigmentosum, patients with Cockayne
DE syndrome do not manifest increased freckling and other pigmentation
DE abnormalities in the skin and have no significant increase in skin
DE cancer.
SY CKN1.
DR MIM; 216400; phenotype.
DR MedGen; C0751039.
DR MeSH; D003057.
KW KW-0172:Cockayne syndrome.
//
ID Cockayne syndrome B.
AC DI-00312
AR CSB.
DE A rare disorder characterized by cutaneous sensitivity to sunlight,
DE abnormal and slow growth, cachectic dwarfism, progeroid appearance,
DE progressive pigmentary retinopathy and sensorineural deafness. There
DE is delayed neural development and severe progressive neurologic
DE degeneration resulting in intellectual disability. Two clinical forms
DE are recognized: in the classical form or Cockayne syndrome type 1, the
DE symptoms are progressive and typically become apparent within the
DE first few years or life; the less common Cockayne syndrome type 2 is
DE characterized by more severe symptoms that manifest prenatally.
DE Cockayne syndrome shows some overlap with certain forms of xeroderma
DE pigmentosum. Unlike xeroderma pigmentosum, patients with Cockayne
DE syndrome do not manifest increased freckling and other pigmentation
DE abnormalities in the skin and have no significant increase in skin
DE cancer.
SY CKN2.
DR MIM; 133540; phenotype.
DR MedGen; C0751038.
DR MeSH; D003057.
KW KW-0172:Cockayne syndrome.
//
ID Cocoon syndrome.
AC DI-02978
AR COCOS.
DE A lethal syndrome characterized by multiple fetal malformations
DE including defective face and seemingly absent limbs, which are bound
DE to the trunk and encased under the skin.
SY Fetal encasement syndrome.
DR MIM; 613630; phenotype.
DR MedGen; C3150891.
DR MeSH; D005315.
//
ID CODAS syndrome.
AC DI-04347
AR CODASS.
DE A rare syndrome characterized by the combination of cerebral, ocular,
DE dental, auricular, and skeletal features. These include developmental
DE delay, craniofacial anomalies, cataracts, ptosis, median nasal groove,
DE delayed tooth eruption, hearing loss, short stature, delayed
DE epiphyseal ossification, metaphyseal hip dysplasia, and vertebral
DE coronal clefts.
SY Cerebral, ocular, dental, auricular, and skeletal anomalies syndrome.
DR MIM; 600373; phenotype.
DR MedGen; C1838180.
DR MeSH; D005124.
DR MeSH; D006130.
DR MeSH; D006618.
DR MeSH; D010009.
DR MeSH; D014071.
DR MeSH; D019465.
KW KW-0209:Deafness.
KW KW-0242:Dwarfism.
KW KW-0898:Cataract.
//
ID Coenzyme Q10 deficiency, primary, 1.
AC DI-01354
AR COQ10D1.
DE An autosomal recessive disorder with variable manifestations
DE consistent with 5 major phenotypes. The phenotypes include an
DE encephalomyopathic form with seizures and ataxia; a multisystem
DE infantile form with encephalopathy, cardiomyopathy and renal failure;
DE a predominantly cerebellar form with ataxia and cerebellar atrophy;
DE Leigh syndrome with growth retardation; and an isolated myopathic
DE form.
SY Coenzyme Q deficiency 1.
SY CoQ deficiency 1.
SY Primary CoQ10 deficiency 1.
SY Ubiquinone deficiency 1.
DR MIM; 607426; phenotype.
DR MedGen; C1843920.
DR MedGen; C3551954.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Coenzyme Q10 deficiency, primary, 2.
AC DI-03446
AR COQ10D2.
DE An autosomal recessive multisystem disorder characterized by early-
DE onset deafness, optic atrophy, mild intellectual disability,
DE peripheral neuropathy, obesity, livedo reticularis, and cardiac
DE valvulopathy.
DR MIM; 614651; phenotype.
DR MedGen; C3553354.
DR MedGen; CN125025.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Coenzyme Q10 deficiency, primary, 3.
AC DI-03447
AR COQ10D3.
DE A fatal encephalomyopathic form of coenzyme Q10 deficiency with
DE nephrotic syndrome. Coenzyme Q10 deficiency is an autosomal recessive
DE disorder with variable manifestations consistent with 5 major
DE phenotypes. The phenotypes include an encephalomyopathic form with
DE seizures and ataxia; a multisystem infantile form with encephalopathy,
DE cardiomyopathy and renal failure; a predominantly cerebellar form with
DE ataxia and cerebellar atrophy; Leigh syndrome with growth retardation;
DE and an isolated myopathic form.
DR MIM; 614652; phenotype.
DR MedGen; C3553358.
DR MedGen; CN125026.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Coenzyme Q10 deficiency, primary, 4.
AC DI-01063
AR COQ10D4.
DE An autosomal recessive disorder characterized by childhood-onset of
DE cerebellar ataxia and exercise intolerance. Patient manifest gait
DE ataxia and cerebellar atrophy with slow progression. Additional
DE features include brisk tendon reflexes and Hoffmann sign, variable
DE psychomotor retardation and variable seizures.
SY ARCA2.
SY Autosomal recessive cerebellar ataxia type 2.
SY SCAR9.
SY Spinocerebellar ataxia autosomal recessive 9.
DR MIM; 612016; phenotype.
DR MedGen; C2677589.
DR MeSH; D028361.
KW KW-0523:Neurodegeneration.
KW KW-1274:Primary mitochondrial disease.
//
ID Coenzyme Q10 deficiency, primary, 5.
AC DI-03448
AR COQ10D5.
DE A form of coenzyme Q10 deficiency, an autosomal recessive disorder
DE with variable manifestations consistent with 5 major phenotypes. The
DE phenotypes include an encephalomyopathic form with seizures and
DE ataxia; a multisystem infantile form with encephalopathy,
DE cardiomyopathy and renal failure; a predominantly cerebellar form with
DE ataxia and cerebellar atrophy; Leigh syndrome with growth retardation;
DE and an isolated myopathic form.
DR MIM; 614654; phenotype.
DR MedGen; C3553374.
DR MedGen; CN125027.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Coenzyme Q10 deficiency, primary, 6.
AC DI-03445
AR COQ10D6.
DE An autosomal recessive disorder characterized by onset in infancy of
DE severe progressive nephrotic syndrome resulting in end-stage renal
DE failure and sensorineural deafness. Renal biopsy usually shows focal
DE segmental glomerulosclerosis.
SY SRNS with sensorineural deafness.
SY Steroid-resistant nephrotic syndrome with sensorineural deafness.
DR MIM; 614650; phenotype.
DR MedGen; C3553349.
DR MedGen; CN125024.
DR MeSH; D006319.
DR MeSH; D028361.
KW KW-0209:Deafness.
KW KW-1274:Primary mitochondrial disease.
//
ID Coenzyme Q10 deficiency, primary, 7.
AC DI-04354
AR COQ10D7.
DE An autosomal recessive disorder resulting from mitochondrial
DE dysfunction and characterized by decreased levels of coenzyme Q10, and
DE severe cardiac or neurologic symptoms soon after birth, usually
DE resulting in death. Rarely, symptoms may have later onset.
DR MIM; 616276; phenotype.
DR MedGen; CN228795.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Coenzyme Q10 deficiency, primary, 8.
AC DI-04625
AR COQ10D8.
DE An autosomal recessive disorder resulting from mitochondrial
DE dysfunction and characterized by decreased levels of coenzyme Q10.
DE Patients manifest neonatal lung hypoplasia, contractures, early
DE infantile hypertension and cardiac hypertrophy, secondary to prenatal
DE kidney dysplasia, with neonatal and infantile renal dysfunction.
DE Clinical features also include progressive peripheral neuropathy,
DE muscular hypotonia and atrophy, and mild psychomotor delay with
DE hearing and visual impairment.
DR MIM; 616733; phenotype.
DR MedGen; CN234873.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Coenzyme Q10 deficiency, primary, 9.
AC DI-05918
AR COQ10D9.
DE A form of coenzyme Q10 deficiency, an autosomal recessive disorder
DE with variable manifestations consistent with 5 major phenotypes. The
DE phenotypes include an encephalomyopathic form with seizures and
DE ataxia; a multisystem infantile form with encephalopathy,
DE cardiomyopathy and renal failure; a predominantly cerebellar form with
DE ataxia and cerebellar atrophy; Leigh syndrome with growth retardation;
DE and an isolated myopathic form. COQ10D9 patients show cerebellar
DE ataxia with cerebellar atrophy. Additional features include
DE generalized tonic-clonic seizures, and cognitive disability. Disease
DE onset is in the first decade of life.
DR MIM; 619028; phenotype.
DR MedGen; CN283411.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Coffin-Lowry syndrome.
AC DI-00313
AR CLS.
DE An X-linked disorder characterized by intellectual disability
DE associated with facial and digital dysmorphisms, progressive skeletal
DE malformations, growth retardation, hearing deficit and paroxysmal
DE movement disorders.
DR MIM; 303600; phenotype.
DR MedGen; C0265252.
DR MeSH; D038921.
KW KW-0991:Intellectual disability.
//
ID Coffin-Siris syndrome 1.
AC DI-04692
AR CSS1.
DE A form of Coffin-Siris syndrome, a congenital multiple malformation
DE syndrome with broad phenotypic and genetic variability. Cardinal
DE features are intellectual disability, coarse facial features,
DE hypertrichosis, and hypoplastic or absent fifth digit nails or
DE phalanges. Additional features include malformations of the cardiac,
DE gastrointestinal, genitourinary, and/or central nervous systems.
DE Sucking/feeding difficulties, poor growth, ophthalmologic
DE abnormalities, hearing impairment, and spinal anomalies are common
DE findings. Both autosomal dominant and autosomal recessive inheritance
DE patterns have been reported.
SY Coffin-Siris syndrome.
SY CSS.
SY Fifth digit syndrome.
SY HHID.
SY MRD12.
DR MIM; 135900; phenotype.
DR MedGen; C0265338.
DR MeSH; D000015.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Coffin-Siris syndrome 10.
AC DI-05618
AR CSS10.
DE A form of Coffin-Siris syndrome, a congenital multiple malformation
DE syndrome with broad phenotypic and genetic variability. Cardinal
DE features are intellectual disability, coarse facial features,
DE hypertrichosis, and hypoplastic or absent fifth digit nails or
DE phalanges. Additional features include malformations of the cardiac,
DE gastrointestinal, genitourinary, and/or central nervous systems.
DE Sucking/feeding difficulties, poor growth, ophthalmologic
DE abnormalities, hearing impairment, and spinal anomalies are common
DE findings. CSS10 is characterized by mild to severe intellectual
DE disability, global developmental delay, mild but distinct facial
DE dysmorphism, fifth finger clinodactyly, and small stature. Hypotonia,
DE ventricular septal defect, and spastic quadriparesis may also be
DE present. CSS10 inheritance is autosomal dominant.
DR MIM; 618506; phenotype.
DR MedGen; CN260602.
DR MeSH; D000015.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Coffin-Siris syndrome 11.
AC DI-05763
AR CSS11.
DE A form of Coffin-Siris syndrome, a congenital multiple malformation
DE syndrome with broad phenotypic and genetic variability. Cardinal
DE features are intellectual disability, coarse facial features,
DE hypertrichosis, and hypoplastic or absent fifth digit nails or
DE phalanges. Additional features include malformations of the cardiac,
DE gastrointestinal, genitourinary, and/or central nervous systems.
DE Sucking/feeding difficulties, poor growth, ophthalmologic
DE abnormalities, hearing impairment, and spinal anomalies are common
DE findings. CSS11 is an autosomal dominant form characterized by
DE developmental delay, intellectual disability, hypotonia, feeding
DE difficulties, and small hands and feet.
DR MIM; 618779; phenotype.
DR MedGen; CN263286.
DR MeSH; D000015.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Coffin-Siris syndrome 12.
AC DI-06109
AR CSS12.
DE A form of Coffin-Siris syndrome, a congenital multiple malformation
DE syndrome with broad phenotypic and genetic variability. Cardinal
DE features are intellectual disability, coarse facial features,
DE hypertrichosis, and hypoplastic or absent fifth digit nails or
DE phalanges. Additional features include malformations of the cardiac,
DE gastrointestinal, genitourinary, and/or central nervous systems.
DE Sucking/feeding difficulties, poor growth, ophthalmologic
DE abnormalities, hearing impairment, and spinal anomalies are common
DE findings. CSS12 is an autosomal dominant form characterized by global
DE developmental delay with variably impaired intellectual development,
DE speech and language delay, and behavioral abnormalities, such as
DE autism or hyperactivity. Most CSS12 patients do not have the classic
DE hypoplastic fifth digit/nail abnormalities that are often observed in
DE other forms the disease.
DR MIM; 619325; phenotype.
DR MedGen; CN296800.
DR MeSH; D000015.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Coffin-Siris syndrome 2.
AC DI-03453
AR CSS2.
DE A form of Coffin-Siris syndrome, a congenital multiple malformation
DE syndrome with broad phenotypic and genetic variability. Cardinal
DE features are intellectual disability, coarse facial features,
DE hypertrichosis, and hypoplastic or absent fifth digit nails or
DE phalanges. Additional features include malformations of the cardiac,
DE gastrointestinal, genitourinary, and/or central nervous systems.
DE Sucking/feeding difficulties, poor growth, ophthalmologic
DE abnormalities, hearing impairment, and spinal anomalies are common
DE findings. Both autosomal dominant and autosomal recessive inheritance
DE patterns have been reported.
SY MRD14.
DR MIM; 614607; phenotype.
DR MedGen; C3553247.
DR MedGen; CN123922.
DR MeSH; D000015.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Coffin-Siris syndrome 3.
AC DI-03454
AR CSS3.
DE A form of Coffin-Siris syndrome, a congenital multiple malformation
DE syndrome with broad phenotypic and genetic variability. Cardinal
DE features are intellectual disability, coarse facial features,
DE hypertrichosis, and hypoplastic or absent fifth digit nails or
DE phalanges. Additional features include malformations of the cardiac,
DE gastrointestinal, genitourinary, and/or central nervous systems.
DE Sucking/feeding difficulties, poor growth, ophthalmologic
DE abnormalities, hearing impairment, and spinal anomalies are common
DE findings. Both autosomal dominant and autosomal recessive inheritance
DE patterns have been reported.
SY MRD15.
DR MIM; 614608; phenotype.
DR MedGen; C3553248.
DR MedGen; CN123923.
DR MeSH; D000015.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Coffin-Siris syndrome 4.
AC DI-03455
AR CSS4.
DE A form of Coffin-Siris syndrome, a congenital multiple malformation
DE syndrome with broad phenotypic and genetic variability. Cardinal
DE features are intellectual disability, coarse facial features,
DE hypertrichosis, and hypoplastic or absent fifth digit nails or
DE phalanges. Additional features include malformations of the cardiac,
DE gastrointestinal, genitourinary, and/or central nervous systems.
DE Sucking/feeding difficulties, poor growth, ophthalmologic
DE abnormalities, hearing impairment, and spinal anomalies are common
DE findings. Both autosomal dominant and autosomal recessive inheritance
DE patterns have been reported.
SY MRD16.
DR MIM; 614609; phenotype.
DR MedGen; C3553249.
DR MedGen; CN123924.
DR MeSH; D000015.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Coffin-Siris syndrome 5.
AC DI-04718
AR CSS5.
DE A form of Coffin-Siris syndrome, a congenital multiple malformation
DE syndrome with broad phenotypic and genetic variability. Cardinal
DE features are intellectual disability, coarse facial features,
DE hypertrichosis, and hypoplastic or absent fifth digit nails or
DE phalanges. Additional features include malformations of the cardiac,
DE gastrointestinal, genitourinary, and/or central nervous systems.
DE Sucking/feeding difficulties, poor growth, ophthalmologic
DE abnormalities, hearing impairment, and spinal anomalies are common
DE findings. Both autosomal dominant and autosomal recessive inheritance
DE patterns have been reported.
DR MIM; 616938; phenotype.
DR MedGen; CN236417.
DR MeSH; D000015.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Coffin-Siris syndrome 6.
AC DI-05158
AR CSS6.
DE A form of Coffin-Siris syndrome, a congenital multiple malformation
DE syndrome with broad phenotypic and genetic variability. Cardinal
DE features are intellectual disability, coarse facial features,
DE hypertrichosis, and hypoplastic or absent fifth digit nails or
DE phalanges. Additional features include malformations of the cardiac,
DE gastrointestinal, genitourinary, and/or central nervous systems.
DE Sucking/feeding difficulties, poor growth, ophthalmologic
DE abnormalities, hearing impairment, and spinal anomalies are common
DE findings. Both autosomal dominant and autosomal recessive inheritance
DE patterns have been reported. CSS6 inheritance is autosomal dominant.
DR MIM; 617808; phenotype.
DR MedGen; CN696018.
DR MeSH; D000015.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Coffin-Siris syndrome 7.
AC DI-05275
AR CSS7.
DE A form of Coffin-Siris syndrome, a congenital multiple malformation
DE syndrome with broad phenotypic and genetic variability. Cardinal
DE features are intellectual disability, coarse facial features,
DE hypertrichosis, and hypoplastic or absent fifth digit nails or
DE phalanges. Additional features include malformations of the cardiac,
DE gastrointestinal, genitourinary, and/or central nervous systems.
DE Sucking/feeding difficulties, poor growth, ophthalmologic
DE abnormalities, hearing impairment, and spinal anomalies are common
DE findings. Both autosomal dominant and autosomal recessive inheritance
DE patterns have been reported. CSS7 inheritance is autosomal dominant.
DR MIM; 618027; phenotype.
DR MedGen; CN248780.
DR MeSH; D000015.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Coffin-Siris syndrome 8.
AC DI-05497
AR CSS8.
DE A form of Coffin-Siris syndrome, a congenital multiple malformation
DE syndrome with broad phenotypic and genetic variability. Cardinal
DE features are intellectual disability, coarse facial features,
DE hypertrichosis, and hypoplastic or absent fifth digit nails or
DE phalanges. Additional features include malformations of the cardiac,
DE gastrointestinal, genitourinary, and/or central nervous systems.
DE Sucking/feeding difficulties, poor growth, ophthalmologic
DE abnormalities, hearing impairment, and spinal anomalies are common
DE findings. CSS8 patients manifest prominent speech impairment,
DE hypotonia, feeding difficulties, behavioral abnormalities, and
DE dysmorphic features such as hypertrichosis, thick eyebrows, thin upper
DE lip vermilion, and upturned nose. CSS8 inheritance is autosomal
DE dominant.
DR MIM; 618362; phenotype.
DR MedGen; CN258253.
DR MeSH; D000015.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Coffin-Siris syndrome 9.
AC DI-04132
AR CSS9.
DE A form of Coffin-Siris syndrome, a congenital multiple malformation
DE syndrome with broad phenotypic and genetic variability. Cardinal
DE features are intellectual disability, coarse facial features,
DE hypertrichosis, and hypoplastic or absent fifth digit nails or
DE phalanges. Additional features include malformations of the cardiac,
DE gastrointestinal, genitourinary, and/or central nervous systems.
DE Sucking/feeding difficulties, poor growth, ophthalmologic
DE abnormalities, hearing impairment, and spinal anomalies are common
DE findings. CSS9 is an autosomal dominant form characterized by
DE dysmorphic facial features, microcephaly, growth deficiency,
DE hypoplastic fifth toenails, and mild intellectual disability.
SY MRD27.
DR MIM; 615866; phenotype.
DR MedGen; CN189149.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Cognitive impairment with or without cerebellar ataxia.
AC DI-03296
AR CIAT.
DE A disorder characterized by markedly delayed cognitive and motor
DE development, attention deficit disorder, and cerebellar ataxia.
DE Features include bilateral esophoria, strabismatic amblyopia,
DE unsustained gaze evoked nystagmus on horizontal gaze, ataxic gait,
DE dysmetria in the upper limbs and dysarthria, with normal strength,
DE tone, and reflexes.
DR MIM; 614306; phenotype.
DR MedGen; C3280415.
DR MeSH; D019954.
KW KW-0991:Intellectual disability.
//
ID Cohen syndrome.
AC DI-00314
AR COH1.
DE A rare autosomal recessive disorder characterized by obesity,
DE hypotonia, intellectual deficit, characteristic craniofacial
DE dysmorphism and abnormalities of the hands and feet. Characteristic
DE facial features include high-arched or wave-shaped eyelids, a short
DE philtrum, thick hair and low hairline.
SY CHS1.
SY Hypotonia-obesity-prominent incisors.
SY Pepper syndrome.
DR MIM; 216550; phenotype.
DR MedGen; C0265223.
DR MeSH; D008607.
DR MeSH; D008831.
DR MeSH; D009123.
DR MeSH; D009765.
KW KW-0550:Obesity.
//
ID Cohen-Gibson syndrome.
AC DI-05034
AR COGIS.
DE An autosomal dominant overgrowth disorder characterized by accelerated
DE osseous maturation, advanced bone age, skeletal abnormalities
DE including flaring of the metaphyses of the long bones, large hands
DE with long fingers and camptodactyly, scoliosis, cervical spine
DE anomalies, dysmorphic facial features, and variable intellectual
DE disability.
DR MIM; 617561; phenotype.
DR MedGen; CN314204.
DR MeSH; D001847.
//
ID Cole disease.
AC DI-03946
AR COLED.
DE A rare autosomal dominant genodermatosis characterized by punctate
DE keratoderma associated with irregularly shaped hypopigmented macules,
DE which are typically found over the arms and legs but not the trunk or
DE acral regions. Skin biopsies of palmoplantar lesions show
DE hyperorthokeratosis, hypergranulosis, and acanthosis. Hypopigmented
DE areas of skin, however, reveal a reduction in melanin content in
DE keratinocytes but not in melanocytes, as well as hyperkeratosis and a
DE normal number of melanocytes. Ultrastructurally, melanocytes show a
DE disproportionately large number of melanosomes in the cytoplasm and
DE dendrites, whereas keratinocytes show a paucity of these organelles,
DE suggestive of impaired melanosome transfer. Some patients also exhibit
DE calcinosis cutis or calcific tendinopathy.
DR MIM; 615522; phenotype.
DR MedGen; C3809781.
DR MedGen; CN181445.
DR MeSH; D007645.
DR MeSH; D017496.
//
ID Cole-Carpenter syndrome 1.
AC DI-04383
AR CLCRP1.
DE A form of Cole-Carpenter syndrome, a disorder characterized by
DE features of osteogenesis imperfecta such as bone deformities and
DE severe bone fragility with frequent fractures, in association with
DE craniosynostosis, ocular proptosis, hydrocephalus, growth failure and
DE distinctive facial features. Craniofacial findings include marked
DE frontal bossing, midface hypoplasia, and micrognathia. Despite the
DE craniosynostosis and hydrocephalus, intellectual development is
DE normal. CLCRP1 inheritance is autosomal dominant.
SY Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features.
DR MIM; 112240; phenotype.
DR MedGen; C1862178.
DR MeSH; D003398.
DR MeSH; D005124.
DR MeSH; D006849.
DR MeSH; D010013.
KW KW-0989:Craniosynostosis.
KW KW-1065:Osteogenesis imperfecta.
//
ID Cole-Carpenter syndrome 2.
AC DI-04384
AR CLCRP2.
DE A form of Cole-Carpenter syndrome, a disorder characterized by
DE features of osteogenesis imperfecta such as bone deformities and
DE severe bone fragility with frequent fractures, in association with
DE craniosynostosis, ocular proptosis, hydrocephalus, growth failure and
DE distinctive facial features. Craniofacial findings include marked
DE frontal bossing, midface hypoplasia, and micrognathia. Despite the
DE craniosynostosis and hydrocephalus, intellectual development is
DE normal. CLCRP2 inheritance is autosomal recessive.
DR MIM; 616294; phenotype.
DR MedGen; CN229492.
DR MeSH; D003398.
DR MeSH; D005124.
DR MeSH; D006849.
DR MeSH; D010013.
KW KW-0989:Craniosynostosis.
KW KW-1065:Osteogenesis imperfecta.
//
ID Coloboma of optic nerve.
AC DI-01358
AR COLON.
DE An ocular defect that is due to malclosure of the fetal intraocular
DE fissure affecting the optic nerve head. In some affected individuals,
DE it appears as enlargement of the physiologic cup with severely
DE affected eyes showing huge cavities at the site of the disk.
DR MIM; 120430; phenotype.
DR MedGen; C0155299.
DR MedGen; C0393782.
DR MeSH; D009901.
//
ID Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability and ear anomalies syndrome.
AC DI-03465
AR CHIME.
DE An extremely rare autosomal recessive multisystem disorder clinically
DE characterized by colobomas, congenital heart defects, migratory
DE ichthyosiform dermatosis, intellectual disability, and ear anomalies
DE including conductive hearing loss. Other clinical features include
DE distinctive facial features, abnormal growth, genitourinary
DE abnormalities, seizures, and feeding difficulties.
SY CHIME syndrome.
SY Glycosylphosphatidylinositol biosynthesis defect 5.
SY GPIBD5.
SY Zunich neuroectodermal syndrome.
DR MIM; 280000; phenotype.
DR MedGen; C1848392.
DR MeSH; D003103.
DR MeSH; D006314.
DR MeSH; D006331.
DR MeSH; D007057.
DR MeSH; D008607.
KW KW-0209:Deafness.
KW KW-0977:Ichthyosis.
KW KW-0991:Intellectual disability.
//
ID Coloboma, ocular, autosomal dominant.
AC DI-02083
AR COAD.
DE A set of malformations resulting from abnormal morphogenesis of the
DE optic cup and stalk, and the fusion of the fetal fissure (optic
DE fissure). The clinical presentation is variable. Some individuals may
DE present with minimal defects in the anterior iris leaf without other
DE ocular defects. More complex malformations create a combination of
DE iris, uveoretinal and/or optic nerve defects without or with
DE microphthalmia or even anophthalmia.
SY COI.
SY Coloboma of iris, choroid, and retina.
SY Ocular coloboma.
SY Uveoretinal coloboma.
DR MIM; 120200; phenotype.
DR MedGen; C0009363.
DR MeSH; D003103.
//
ID Coloboma, ocular, autosomal recessive.
AC DI-04214
AR COAR.
DE An ocular anomaly resulting from abnormal morphogenesis of the optic
DE cup and stalk, and incomplete fusion of the fetal intra-ocular fissure
DE during gestation. The clinical presentation is variable. Some
DE individuals may present with minimal defects in the anterior iris leaf
DE without other ocular defects. More complex malformations create a
DE combination of iris, uveoretinal and/or optic nerve defects without or
DE with microphthalmia or even anophthalmia.
DR MIM; 216820; phenotype.
DR MedGen; CN074221.
DR MeSH; D003103.
//
ID Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or intellectual disability.
AC DI-04066
AR COB1.
DE An autosomal dominant disease characterized by uveal colobomata,
DE microphthalmia, cataract and cleft lip/palate. Considerable
DE variability is observed among patients, uveal colobomata being the
DE most constant feature. Some patients manifest intellectual disability
DE of varying degree and/or sensorineural, mid-frequency hearing loss.
DR MIM; 120433; phenotype.
DR MedGen; C1852750.
DR MeSH; D002971.
DR MeSH; D002972.
DR MeSH; D003103.
DR MeSH; D008607.
DR MeSH; D034381.
//
ID Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness.
AC DI-04925
AR COMMAD.
DE An autosomal recessive syndrome characterized by severe
DE microphthalmia, profound congenital sensorineural hearing loss, lack
DE of pigment in the hair, skin, and eyes, macrocephaly, facial
DE dysmorphism, and osteopetrosis.
SY COMMAD syndrome.
DR MIM; 617306; phenotype.
DR MedGen; CN240351.
DR MeSH; D000015.
KW KW-0015:Albinism.
KW KW-0209:Deafness.
KW KW-0987:Osteopetrosis.
KW KW-1013:Microphthalmia.
//
ID Colorblindness, partial, deutan series.
AC DI-02144
AR CBD.
DE A color vision defect characterized by a dichromasy in which red and
DE green are confused, without loss of luminance or shift or shortening
DE of the spectrum. Dichromasy is due to the use of only two types of
DE photoreceptors, blue plus red in deuteranopia and blue plus green in
DE protanopia.
SY DCB.
SY Deutan colorblindness.
SY Deuteranopia.
SY Green colorblindness.
DR MIM; 303800; phenotype.
DR MedGen; C0155016.
DR MeSH; D003117.
//
ID Colorblindness, partial, protan series.
AC DI-02145
AR CBP.
DE A color vision defect characterized by a dichromasy in which red and
DE green are confused, with loss of luminance and shift of brightness and
DE hue curves toward the short wave end of the spectrum. Dichromasy is
DE due to the use of only two types of photoreceptors, blue plus red in
DE deuteranopia and blue plus green in protanopia.
SY Protanopia.
SY Red colorblindness.
DR MIM; 303900; phenotype.
DR MedGen; C0155015.
DR MeSH; D003117.
//
ID Colorectal cancer.
AC DI-01359
AR CRC.
DE A complex disease characterized by malignant lesions arising from the
DE inner wall of the large intestine (the colon) and the rectum. Genetic
DE alterations are often associated with progression from premalignant
DE lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer
DE of the colon and rectum include colon polyps, long-standing ulcerative
DE colitis, and genetic family history.
SY Colon cancer.
DR MIM; 114500; phenotype.
DR MedGen; C0009402.
DR MedGen; C0699790.
DR MedGen; C1527249.
DR MeSH; D015179.
//
ID Colorectal cancer 1.
AC DI-02924
AR CRCS1.
DE A complex disease characterized by malignant lesions arising from the
DE inner wall of the large intestine (the colon) and the rectum. Genetic
DE alterations are often associated with progression from premalignant
DE lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer
DE of the colon and rectum include colon polyps, long-standing ulcerative
DE colitis, and genetic family history.
SY Susceptibility to colorectal adenoma and cancer.
SY Susceptibility to colorectal cancer on chromosome 9.
DR MIM; 608812; phenotype.
DR MedGen; C1837315.
DR MeSH; D015179.
//
ID Colorectal cancer 10.
AC DI-03661
AR CRCS10.
DE A complex disease characterized by malignant lesions arising from the
DE inner wall of the large intestine (the colon) and the rectum. Genetic
DE alterations are often associated with progression from premalignant
DE lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer
DE of the colon and rectum include colon polyps, long-standing ulcerative
DE colitis, and genetic family history.
SY Susceptibility to colorectal cancer on chromosome 19q.
DR MIM; 612591; phenotype.
DR MedGen; C2675481.
DR MeSH; D015179.
//
ID Colorectal cancer 12.
AC DI-03648
AR CRCS12.
DE A complex disease characterized by malignant lesions arising from the
DE inner wall of the large intestine (the colon) and the rectum. Genetic
DE alterations are often associated with progression from premalignant
DE lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer
DE of the colon and rectum include colon polyps, long-standing ulcerative
DE colitis, and genetic family history. CRCS12 is characterized by a
DE high-penetrance predisposition to the development of colorectal
DE adenomas and carcinomas, with a variable tendency to develop multiple
DE and large tumors. Onset is usually before age 40 years. The histologic
DE features of the tumors are unremarkable.
SY Susceptibility to colorectal cancer on chromosome 12q24.
DR MIM; 615083; phenotype.
DR MedGen; C3554460.
DR MedGen; CN165699.
DR MeSH; D015179.
//
ID Colorectal cancer 3.
AC DI-02891
AR CRCS3.
DE A complex disease characterized by malignant lesions arising from the
DE inner wall of the large intestine (the colon) and the rectum. Genetic
DE alterations are often associated with progression from premalignant
DE lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer
DE of the colon and rectum include colon polyps, long-standing ulcerative
DE colitis, and genetic family history.
SY Susceptibility to colorectal cancer on chromosome 18.
DR MIM; 612229; phenotype.
DR MedGen; C2677123.
DR MeSH; D015179.
//
ID Colorectal cancer 4.
AC DI-03479
AR CRCS4.
DE A complex disease characterized by malignant lesions arising from the
DE inner wall of the large intestine (the colon) and the rectum. Genetic
DE alterations are often associated with progression from premalignant
DE lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer
DE of the colon and rectum include colon polyps, long-standing ulcerative
DE colitis, and genetic family history.
SY Susceptibility to colorectal cancer on chromosome 15.
DR MIM; 601228; phenotype.
DR MedGen; C2677290.
DR MedGen; C2677291.
DR MeSH; D015179.
//
ID Combined cellular and humoral immune defects with granulomas.
AC DI-01360
AR CHIDG.
DE Immunodeficiency disease with granulomas in the skin, mucous
DE membranes, and internal organs. Other characteristics include
DE hypogammaglobulinemia, a diminished number of T and B-cells, and
DE sparse thymic tissue on ultrasonography.
DR MIM; 233650; phenotype.
DR MedGen; C2673536.
//
ID Combined D-2- and L-2-hydroxyglutaric aciduria.
AC DI-03710
AR D2L2AD.
DE An autosomal recessive neurometabolic disorder characterized by
DE neonatal-onset encephalopathy with severe muscular weakness,
DE intractable seizures, respiratory distress, and lack of psychomotor
DE development resulting in early death. Brain imaging shows
DE abnormalities including enlarged ventricles, delayed myelination, and
DE germinal layer cysts.
DR MIM; 615182; phenotype.
DR MedGen; C2746066.
DR MeSH; D020739.
//
ID Combined deficiency of vitamin K-dependent clotting factors 1.
AC DI-01361
AR VKCFD1.
DE VKCFD leads to a bleeding tendency that is usually reversed by oral
DE administration of vitamin K.
SY MCFD3.
SY Multiple coagulation factor deficiency III.
DR MIM; 277450; phenotype.
DR MedGen; C1848534.
//
ID Combined deficiency of vitamin K-dependent clotting factors 2.
AC DI-01362
AR VKCFD2.
DE VKCFD leads to a bleeding tendency that is usually reversed by oral
DE administration of vitamin K.
DR MIM; 607473; phenotype.
DR MedGen; C1843832.
//
ID Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia.
AC DI-05147
AR CIMAH.
DE An autosomal recessive disorder due to an inborn error of folate
DE metabolism. Variable clinical manifestations include hemolytic uremic
DE syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild
DE intellectual disability, and lymphopenia.
DR MIM; 617780; phenotype.
DR MedGen; CN635903.
DR MeSH; D008661.
//
ID Combined lipase deficiency.
AC DI-01363
AR CLD.
DE Characterized by repeated episodes of pancreatitis, tuberous xanthomas
DE and lipodystrophy and is caused by deficiency of both lipoprotein
DE lipase (LPL) and hepatic triglyceride lipase (HTGL).
DR MIM; 246650; phenotype.
DR MedGen; C1855498.
//
ID Combined malonic and methylmalonic aciduria.
AC DI-03246
AR CMAMMA.
DE A metabolic disease characterized by malonic and methylmalonic
DE aciduria, with urinary excretion of much larger amounts of
DE methylmalonic acid than malonic acid, in the presence of normal
DE malonyl-CoA decarboxylase activity. Clinical features include coma,
DE ketoacidosis, hypoglycemia, failure to thrive, microcephaly, dystonia,
DE axial hypotonia and/or developmental delay, and neurologic
DE manifestations including seizures, psychiatric disease and/or
DE cognitive decline.
DR MIM; 614265; phenotype.
DR MedGen; C3280314.
DR MeSH; D008052.
//
ID Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1.
AC DI-05986
AR OIEDS1.
DE An autosomal dominant connective tissue disorder characterized by
DE osteopenia, bone fragility, long bone fractures, blue sclerae, joint
DE hyperextensibility, soft and hyperextensible skin, abnormal wound
DE healing, easy bruising, and vascular fragility.
DR MIM; 619115; phenotype.
DR MedGen; CN248508.
DR MeSH; D004535.
DR MeSH; D010013.
KW KW-0248:Ehlers-Danlos syndrome.
KW KW-1065:Osteogenesis imperfecta.
//
ID Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2.
AC DI-05987
AR OIEDS2.
DE An autosomal dominant connective tissue disorder characterized by
DE osteopenia, bone fragility, long bone fractures, blue sclerae, joint
DE hyperextensibility, soft and hyperextensible skin, abnormal wound
DE healing, easy bruising, and vascular fragility.
DR MIM; 619120; phenotype.
DR MedGen; CN293583.
DR MeSH; D004535.
DR MeSH; D010013.
KW KW-0248:Ehlers-Danlos syndrome.
KW KW-1065:Osteogenesis imperfecta.
//
ID Combined oxidative phosphorylation deficiency 1.
AC DI-01364
AR COXPD1.
DE A mitochondrial disease resulting in early rapidly progressive
DE hepatoencephalopathy.
SY Hepatoencephalopathy early fatal progressive.
DR MIM; 609060; phenotype.
DR MedGen; C1836797.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 10.
AC DI-03492
AR COXPD10.
DE An autosomal recessive disorder resulting in variable defects of
DE mitochondrial oxidative respiration. Affected individuals present in
DE infancy with hypertrophic cardiomyopathy and lactic acidosis. The
DE severity is variable, but can be fatal in the most severe cases.
SY Cardiomyopathy infantile hypertrophic mitochondrial and lactic acidosis.
DR MIM; 614702; phenotype.
DR MedGen; C3553529.
DR MedGen; CN130361.
DR MeSH; D028361.
KW KW-0122:Cardiomyopathy.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 11.
AC DI-03566
AR COXPD11.
DE A severe, multisystemic, autosomal recessive, disorder characterized
DE by deficiencies of multiple mitochondrial respiratory enzymes leading
DE to neonatal hypotonia and lactic acidosis. Affected individuals may
DE have respiratory insufficiency, foot deformities, or seizures.
SY Infantile encephaloneuromyopathy due to mitochondrial translation defect.
DR MIM; 614922; phenotype.
DR MedGen; C3554067.
DR MedGen; CN160490.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 12.
AC DI-03612
AR COXPD12.
DE An autosomal recessive, mitochondrial, neurologic disorder
DE characterized by onset in infancy of hypotonia and delayed psychomotor
DE development, or early developmental regression, associated with T2-
DE weighted hyperintensities in the deep cerebral white matter,
DE brainstem, and cerebellar white matter. Serum lactate is increased due
DE to a defect in mitochondrial respiration. There are 2 main phenotypic
DE groups: those with a milder disease course and some recovery of skills
DE after age 2 years, and those with a severe disease course resulting in
DE marked disability.
SY Leukoencephalopathy with thalamus and brainstem involvement and high lactate.
SY LTBL.
DR MIM; 614924; phenotype.
DR MedGen; C3554079.
DR MedGen; CN160606.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 13.
AC DI-03613
AR COXPD13.
DE A mitochondrial disorder characterized by early onset severe
DE encephalomyopathy, dystonia, choreoathetosis, bucofacial dyskinesias
DE and combined mitochondrial respiratory chain deficiency. Nerve
DE conductions velocities are decreased. Levels of plasma and
DE cerebrospinal fluid lactate are increased.
DR MIM; 614932; phenotype.
DR MedGen; C3554129.
DR MedGen; CN160614.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 14.
AC DI-03630
AR COXPD14.
DE A severe multisystemic autosomal recessive disorder characterized by
DE neonatal onset of global developmental delay, refractory seizures, and
DE lactic acidosis. Biochemical studies show deficiencies of multiple
DE mitochondrial respiratory enzymes.
DR MIM; 614946; phenotype.
DR MedGen; C3554168.
DR MedGen; CN162964.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 15.
AC DI-03631
AR COXPD15.
DE An autosomal recessive, mitochondrial, neurologic disorder
DE characterized by features of Leigh syndrome and combined oxidative
DE phosphorylation deficiency. Clinical features include mild global
DE developmental delay, white matter abnormalities, ataxia,
DE incoordination, speech and reading difficulties, T2-weighted
DE hyperintensities in the basal ganglia, corpus callosum, and brainstem.
DR MIM; 614947; phenotype.
DR MedGen; C3554182.
DR MedGen; CN162965.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 16.
AC DI-03874
AR COXPD16.
DE An autosomal recessive, mitochondrial disorder characterized by
DE hypertrophic cardiomyopathy, liver steatosis, and decreased levels of
DE mitochondrial complexes I and IV in heart and skeletal muscle.
DR MIM; 615395; phenotype.
DR MedGen; C3809339.
DR MedGen; CN179856.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 17.
AC DI-03913
AR COXPD17.
DE An autosomal recessive disorder of mitochondrial dysfunction
DE characterized by onset of severe hypertrophic cardiomyopathy in the
DE first year of life. Other features include hypotonia, poor growth,
DE lactic acidosis, and failure to thrive. The disorder may be fatal in
DE early childhood.
DR MIM; 615440; phenotype.
DR MedGen; C3809526.
DR MedGen; CN180184.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 18.
AC DI-03996
AR COXPD18.
DE An autosomal recessive disorder of mitochondrial dysfunction
DE characterized by intrauterine growth retardation, hypotonia, visual
DE impairment, speech delay, and lactic acidosis associated with
DE decreased mitochondrial respiratory chain activity. Affected patients
DE may also show hematologic abnormalities, mainly macrocytic anemia.
DR MIM; 615578; phenotype.
DR MedGen; C3810001.
DR MedGen; CN182925.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 19.
AC DI-04002
AR COXPD19.
DE A mitochondrial disorder characterized by respiratory distress,
DE hypotonia, and severe lactic acidosis in the newborn period. Other
DE features include gastroesophageal reflux and elevated liver enzymes
DE with normal synthetic function.
DR MIM; 615595; phenotype.
DR MedGen; C3810055.
DR MedGen; CN183092.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 2.
AC DI-01365
AR COXPD2.
DE A mitochondrial disease resulting in fatal neonatal metabolic acidosis
DE with agenesis of the corpus callosum.
SY Agenesis of corpus callosum with dysmorphism and fatal lactic acidosis.
DR MIM; 610498; phenotype.
DR MedGen; C1864843.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 20.
AC DI-04181
AR COXPD20.
DE A disorder due to mitochondrial respiratory chain complex defects.
DE Clinical features are variable and include muscle weakness with
DE hypotonia, central neurological disease with progressive external
DE ophthalmoplegia, ptosis and ataxia, delayed psychomotor development,
DE cardiomyopathy, abnormal liver function, facial dysmorphism,
DE microcephaly and epilepsy.
DR MIM; 615917; phenotype.
DR MedGen; CN219640.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 21.
AC DI-04173
AR COXPD21.
DE A mitochondrial disorder characterized by a lethal encephalomyopathy.
DE Shortly after birth, affected individuals manifest axial hypotonia,
DE limb hypertonia, psychomotor delay, and increased serum lactate.
DE Additional features include subsarcolemmal lipofuscin-positive
DE deposits in muscle, cerebral spongiosis, and hepatic steatosis.
DR MIM; 615918; phenotype.
DR MedGen; CN197314.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 22.
AC DI-04243
AR COXPD22.
DE A mitochondrial disorder characterized by intrauterine growth
DE retardation, microcephaly, hypotonia, pulmonary hypertension, failure
DE to thrive, encephalopathy, and heart failure.
DR MIM; 616045; phenotype.
DR MedGen; CN220052.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 23.
AC DI-04332
AR COXPD23.
DE An autosomal recessive mitochondrial disorder characterized by
DE hypertrophic cardiomyopathy and/or neurologic symptoms with onset in
DE early childhood. Disease features include hypertrophic cardiomyopathy,
DE hypotonia, delayed psychomotor development, lactic acidosis, impaired
DE activities of respiratory complexes I and IV, and defective
DE translation of mitochondrial proteins. Disease severity is variable,
DE ranging from death in early infancy to survival into the second decade
DE of life.
DR MIM; 616198; phenotype.
DR MedGen; CN225702.
DR MeSH; D028361.
KW KW-0122:Cardiomyopathy.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 24.
AC DI-04330
AR COXPD24.
DE An autosomal recessive mitochondrial disorder with wide phenotypic
DE variability. Some patients have a milder form affecting only skeletal
DE muscle, whereas others may have a more severe disorder, reminiscent of
DE Alpers syndrome. Alpers syndrome is a progressive neurodegenerative
DE disorder that presents in infancy or early childhood and is
DE characterized by diffuse degeneration of cerebral gray matter.
DR MIM; 616239; phenotype.
DR MedGen; CN227915.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 25.
AC DI-04460
AR COXPD25.
DE A mitochondrial disorder resulting in developmental delay, growth
DE failure, and sensorineural hearing loss.
DR MIM; 616430; phenotype.
DR MedGen; CN231322.
DR MeSH; D028361.
KW KW-0209:Deafness.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 26.
AC DI-04526
AR COXPD26.
DE A mitochondrial disorder characterized by lactic acidosis, multiple
DE mitochondrial respiratory-chain-complex deficiencies in skeletal
DE muscle, and additional variable features including hypertrophic
DE cardiomyopathy, exercise intolerance, and failure to thrive.
DR MIM; 616539; phenotype.
DR MedGen; CN232403.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 27.
AC DI-04592
AR COXPD27.
DE An autosomal recessive mitochondrial disorder characterized by
DE multiple mitochondrial respiratory-chain-complex deficiencies causing
DE neurological regression, progressive cognitive decline, complex
DE movement disorder, epileptic encephalopathy, progressive spastic
DE tetraparesis, and progressive impairment of vision and hearing.
DR MIM; 616672; phenotype.
DR MedGen; CN233359.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 28.
AC DI-04643
AR COXPD28.
DE An autosomal recessive mitochondrial disorder characterized by
DE decreased activities of respiratory chain enzymes, and variable
DE clinical manifestations. Clinical features include episodic metabolic
DE decompensation beginning in infancy, mild muscle weakness,
DE cardiorespiratory insufficiency, developmental delay, or even death.
DR MIM; 616794; phenotype.
DR MedGen; CN235181.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 29.
AC DI-04649
AR COXPD29.
DE An autosomal recessive, infantile-onset, neurodegenerative disorder
DE characterized by decreased activities of mitochondrial respiratory
DE complexes I and III, severe cerebellar atrophy, epilepsy, dystonia,
DE optic atrophy, and peripheral neuropathy.
DR MIM; 616811; phenotype.
DR MedGen; CN235186.
DR MeSH; D028361.
KW KW-0523:Neurodegeneration.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 3.
AC DI-01366
AR COXPD3.
DE A mitochondrial disease resulting in severe metabolic acidosis with
DE encephalomyopathy or with hypertrophic cardiomyopathy. Patients show a
DE severe defect in mitochondrial translation leading to a failure to
DE assemble adequate amounts of three of the oxidative phosphorylation
DE complexes.
SY Concentric cardiomyopathy hypotonia and lactic acidosis.
SY Encephalomyopathy respiratory failure and lactic acidosis.
DR MIM; 610505; phenotype.
DR MedGen; C1864840.
DR MeSH; D028361.
KW KW-0122:Cardiomyopathy.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 30.
AC DI-04745
AR COXPD30.
DE An autosomal recessive, severe mitochondrial disease characterized by
DE lactic acidosis, hypotonia, feeding difficulties, deafness, and
DE respiratory failure with fatal issue. Patient skeletal muscle cells
DE show decreased activities of mitochondrial complexes I, III and IV.
DR MIM; 616974; phenotype.
DR MedGen; CN236787.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 31.
AC DI-04916
AR COXPD31.
DE An autosomal recessive, severe mitochondrial disease with
DE multisystemic manifestations appearing soon after birth or in early
DE infancy. Clinical features include left ventricular non-compaction,
DE global developmental delay, severe hypotonia, seizures, cataract, and
DE abnormal movements. Death may occur in early childhood.
DR MIM; 617228; phenotype.
DR MedGen; CN239489.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 32.
AC DI-05097
AR COXPD32.
DE An autosomal recessive disorder due to deficiency of mitochondrial
DE respiratory chain complexes, I, III and IV, and characterized by
DE delayed psychomotor development and neurodevelopmental regression.
DE Additional variable symptoms include poor or absent speech, inability
DE to walk, and abnormal movements.
DR MIM; 617664; phenotype.
DR MedGen; CN469327.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 33.
AC DI-05115
AR COXPD33.
DE An autosomal recessive disorder caused by multiple mitochondrial
DE respiratory chain defects and impaired mitochondrial energy
DE metabolism. Clinical manifestations are highly variable. Affected
DE infants present with cardiomyopathy accompanied by multisystemic
DE features involving liver, kidney, and brain. Death in infancy is
DE observed in some patients. Children and adults present with myopathy
DE and progressive external ophthalmoplegia.
DR MIM; 617713; phenotype.
DR MedGen; CN533576.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 34.
AC DI-05192
AR COXPD34.
DE An autosomal recessive disorder caused by mitochondrial dysfunction
DE and combined respiratory chain deficiencies of complexes I, III and
DE IV. Clinical manifestations are variable and include congenital
DE sensorineural deafness, lactic acidemia, and progressive hepatic and
DE renal failure.
DR MIM; 617872; phenotype.
DR MedGen; CN807947.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 35.
AC DI-05193
AR COXPD35.
DE An autosomal recessive disorder caused by defective mitochondrial
DE metabolism and deficiencies of mitochondrial respiratory enzyme
DE complexes. Clinical manifestations include global developmental delay,
DE intellectual disability, microcephaly, and early-onset seizures.
DR MIM; 617873; phenotype.
DR MedGen; CN807948.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 36.
AC DI-05238
AR COXPD36.
DE An autosomal recessive, multisystem disease resulting from
DE deficiencies of mitochondrial respiratory enzyme complexes and
DE mitochondrial dysfunction. Clinical manifestations include
DE sensorineural hearing impairment, mild developmental delay,
DE hypoglycemia, and intellectual disability.
DR MIM; 617950; phenotype.
DR MedGen; CN244569.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 37.
AC DI-05483
AR COXPD37.
DE An autosomal recessive disorder due to mitochondrial dysfunction and
DE characterized by hypotonia, failure to thrive, progressive
DE neurodegeneration with neurologic deterioration after the first months
DE of life, global developmental delay, as well as liver dysfunction.
DE Some patients may have hypertrophic cardiomyopathy, loss of vision and
DE hearing, and/or seizures. Death in first months or years of life is
DE observed in most patients.
DR MIM; 618329; phenotype.
DR MedGen; CN258215.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 38.
AC DI-05529
AR COXPD38.
DE An autosomal recessive disorder due to mitochondrial dysfunction and
DE characterized by perinatal hypertrophic cardiomyopathy, growth
DE retardation, muscle hypotonia, elevated lactate, dysmorphy and
DE intellectual disability.
DR MIM; 618378; phenotype.
DR MedGen; CN258275.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 39.
AC DI-05530
AR COXPD39.
DE An autosomal recessive disorder due to mitochondrial dysfunction and
DE characterized by global developmental delay, axial hypotonia,
DE dystonia, dysarthria, impaired intellectual development with poor
DE speech, and deficiencies of the mitochondrial respiratory chain enzyme
DE complexes. Neuroimaging shows abnormalities in the putamen and caudate
DE nuclei, along with subcortical white matter involvement.
DR MIM; 618397; phenotype.
DR MedGen; CN258295.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 4.
AC DI-01367
AR COXPD4.
DE A mitochondrial disease resulting in neonatal lactic acidosis, rapidly
DE progressive encephalopathy, severely decreased mitochondrial protein
DE synthesis, and combined deficiency of mtDNA-related mitochondrial
DE respiratory chain complexes.
DR MIM; 610678; phenotype.
DR MedGen; C1857682.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 40.
AC DI-05808
AR COXPD40.
DE An autosomal recessive mitochondrial disorder characterized by
DE prenatal or infantile onset, fetal hydrops, severe hypertrophic
DE cardiomyopathy, poor growth, sensorineural hearing loss, hepatic
DE dysfunction, lactic acidosis, and decreased activities of
DE mitochondrial respiratory complexes I, III, IV, and V. The disorder is
DE lethal, with death occurring in infancy.
DR MIM; 618835; phenotype.
DR MedGen; CN272920.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 41.
AC DI-05809
AR COXPD41.
DE An autosomal recessive mitochondrial disorder characterized by
DE prenatal onset, fetal hydrops, intrauterine growth retardation,
DE hypertrophic cardiomyopathy, respiratory insufficiency, lactic
DE acidosis, and decreased activities of mitochondrial respiratory
DE complexes I, III, IV, and V. The disorder is lethal, with death
DE occurring in the perinatal period.
DR MIM; 618838; phenotype.
DR MedGen; CN272921.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 42.
AC DI-05810
AR COXPD42.
DE An autosomal recessive mitochondrial disorder characterized by onset
DE in the first months of life, cardiomyopathy, respiratory
DE insufficiency, lactic acidosis, anemia, and variable impairment of
DE mitochondrial respiratory complexes I, III, and IV. Death occurs in
DE infancy.
DR MIM; 618839; phenotype.
DR MedGen; CN272922.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 43.
AC DI-05811
AR COXPD43.
DE An autosomal recessive mitochondrial disorder characterized by onset
DE at birth, intrauterine growth retardation, hypotonia, myopathy,
DE feeding difficulties associated with gastroesophageal reflux, and
DE persistently elevated serum lactate and creatine kinase. Brain imaging
DE shows delayed myelination. Muscle biopsy shows decreased activities of
DE mitochondrial respiratory chain complexes I, III, and IV.
DR MIM; 618851; phenotype.
DR MedGen; CN280853.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 44.
AC DI-05822
AR COXPD44.
DE An autosomal recessive mitochondrial disorder characterized by onset
DE in infancy or early childhood of global developmental delay,
DE hypotonia, and abnormal movements. Combined oxidative phosphorylation
DE deficiency is present in skeletal muscle. Most patients have seizures
DE associated with status epilepticus. Additional variable features
DE include optic atrophy, hypertrophic cardiomyopathy, stroke-like
DE episodes, and increased lactate levels in serum and cerebrospinal
DE fluid.
DR MIM; 618855; phenotype.
DR MedGen; CN280867.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 45.
AC DI-05877
AR COXPD45.
DE An autosomal recessive mitochondrial disorder with onset in utero and
DE characterized by poor overall growth, failure to thrive, global
DE developmental delay, poor or absent speech, seizures, hypotonia, loss
DE of walking, acute progressive neurologic deterioration, brain lesions,
DE and facial dysmorphism. Laboratory studies show increased serum
DE lactate and decreased mitochondrial respiratory chain enzyme activity
DE in patient tissues.
DR MIM; 618951; phenotype.
DR MedGen; CN283297.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 46.
AC DI-05878
AR COXPD46.
DE An autosomal recessive disorder characterized by childhood-onset
DE mitochondrial respiratory chain complex deficiencies, particularly
DE complexes I and IV, and hepatic disease.
DR MIM; 618952; phenotype.
DR MedGen; CN283298.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 47.
AC DI-05882
AR COXPD47.
DE An autosomal recessive, multisystemic, mitochondrial disorder
DE characterized by intrauterine growth retardation, swallowing
DE difficulties with failure to thrive, hypoglycemia, dehydration, and
DE hepatomegaly. Additional features include global developmental delay
DE with impaired intellectual development and absent speech,
DE microcephaly, facial dysmorphism, cataract, sensorineural deafness,
DE skeletal features, and cryptorchidism. Laboratory studies show
DE metabolic acidosis, increased serum lactate, and variably impaired
DE activity of mitochondrial respiratory complexes I, III, IV, and V in
DE different tissues.
DR MIM; 618958; phenotype.
DR MedGen; CN283299.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 48.
AC DI-05913
AR COXPD48.
DE An autosomal recessive, mitochondrial encephalomyopathy characterized
DE by global developmental delay, microcephaly, failure to thrive,
DE hypotonia, muscle weakness, external ophthalmoplegia, and seizures.
DE Laboratory studies show metabolic acidosis, increased serum lactate,
DE and combined oxidative phosphorylation deficiency in skeletal muscle.
DR MIM; 619012; phenotype.
DR MedGen; CN283360.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 49.
AC DI-05914
AR COXPD49.
DE An autosomal recessive, mitochondrial myopathy characterized by
DE progressive muscle weakness, intermittent muscle pain, exercise
DE intolerance, elevated serum creatine kinase, and deficiencies of
DE multiple respiratory chain enzymes.
DR MIM; 619024; phenotype.
DR MedGen; CN283408.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 5.
AC DI-01368
AR COXPD5.
DE A mitochondrial disease resulting in severe metabolic acidosis, edema,
DE hypertrophic cardiomyopathy, tubulopathy, and hypotonia.
DR MIM; 611719; phenotype.
DR MedGen; C2673642.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 50.
AC DI-05915
AR COXPD50.
DE An autosomal recessive, mitochondrial encephalomyopathy characterized
DE by intrauterine growth retardation, poor overall growth, delayed
DE psychomotor development, hypotonia, muscle weakness, progressive loss
DE of ambulation, and mitochondrial oxidative phosphorylation deficiency
DE in patient tissues. Brain imaging shows partial agenesis of the corpus
DE callosum.
DR MIM; 619025; phenotype.
DR MedGen; CN283409.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 51.
AC DI-05943
AR COXPD51.
DE An autosomal recessive, mitochondrial disorder characterized by
DE intrauterine growth retardation, low birth weight, poor overall
DE growth, progressive limb rigidity, delayed psychomotor development,
DE hearing loss, and optic atrophy. Brain imaging shows abnormal
DE bilateral signs at the basal ganglia and brainstem. Patient cells show
DE decreased mitochondrial complex I and IV levels and activities, and
DE generalized mitochondrial translation defects.
DR MIM; 619057; phenotype.
DR MedGen; CN293374.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 52.
AC DI-06148
AR COXPD52.
DE An autosomal recessive mitochondrial disorder with onset in infancy,
DE characterized by lactic acidemia, hypotonia, respiratory chain complex
DE II and III deficiency, multisystem organ failure and abnormal
DE mitochondria.
DR MIM; 619386; phenotype.
DR MedGen; CN297342.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 53.
AC DI-06163
AR COXPD53.
DE An autosomal recessive mitochondrial disorder characterized by global
DE developmental delay, hypomyelination, cerebral atrophy, microcephaly,
DE liver dysfunction, and recurrent autoinflammation.
SY Elbracht-Isikay syndrome.
SY Global developmental delay, progressive microcephaly, structural brain abnormalities, and autoinflammation.
DR MIM; 619423; phenotype.
DR MedGen; CN299635.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 54.
AC DI-06332
AR COXPD54.
DE An autosomal recessive, multisystem disorder with highly variable
DE manifestations resulting from defective mitochondrial transcription
DE and translation. Clinical features include early-onset sensorineural
DE hearing loss, sometimes associated with global developmental delay or
DE primary ovarian failure, peripheral hypertonia, seizures, muscle
DE weakness, behavioral abnormalities, and leukoencephalopathy on brain
DE imaging. Serum lactate may or may not be elevated.
DR MIM; 619737; phenotype.
DR MedGen; CN306409.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 55.
AC DI-06333
AR COXPD55.
DE A mitochondrial disease characterized by global developmental delay,
DE hypotonia, short stature, and impaired intellectual development with
DE speech disabilities in childhood. Indolent progressive external
DE ophthalmoplegia may be present in some patients. COXPD55 transmission
DE pattern is consistent with autosomal dominant inheritance in some
DE families, and with autosomal recessive inheritance in others.
DR MIM; 619743; phenotype.
DR MedGen; CN306435.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 6.
AC DI-02854
AR COXPD6.
DE A mitochondrial disease resulting in a neurodegenerative disorder
DE characterized by psychomotor delay, hypotonia, areflexia, muscle
DE weakness and wasting. Some patients manifest prenatal ventriculomegaly
DE and severe postnatal encephalomyopathy.
SY Encephalomyopathy mitochondrial X-linked.
DR MIM; 300816; phenotype.
DR MedGen; C3151753.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 7.
AC DI-02900
AR COXPD7.
DE A mitochondrial disease resulting in encephalomyopathy. Clinical
DE manifestations include psychomotor delay and regression, ataxia, optic
DE atrophy, nystagmus and muscle atrophy and weakness.
DR MIM; 613559; phenotype.
DR MedGen; C3150801.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 8.
AC DI-03184
AR COXPD8.
DE A mitochondrial disease characterized by a lethal infantile
DE hypertrophic cardiomyopathy, generalized muscle dysfunction and some
DE neurologic involvement. The liver is not affected.
SY Cardiomyopathy hypertrophic mitochondrial fatal infantile.
DR MIM; 614096; phenotype.
DR MedGen; C3279793.
DR MeSH; D002312.
DR MeSH; D017240.
KW KW-0122:Cardiomyopathy.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined oxidative phosphorylation deficiency 9.
AC DI-03428
AR COXPD9.
DE A mitochondrial disease characterized by failure to thrive, poor
DE feeding, hypertrophic cardiomyopathy, hepatomegaly, and psychomotor
DE retardation. Death in infancy has been observed in some cases.
DR MIM; 614582; phenotype.
DR MedGen; C3281234.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Combined saposin deficiency.
AC DI-01370
AR CSAPD.
DE Due to absence of all saposins, leading to a fatal storage disorder
DE with hepatosplenomegaly and severe neurological involvement.
SY Prosaposin deficiency.
DR MIM; 611721; phenotype.
DR MedGen; C2673635.
//
ID Complement component 2 deficiency.
AC DI-01306
AR C2D.
DE A rare defect of the complement classical pathway associated with the
DE development of autoimmune disorders, mainly systemic lupus
DE erythematosus. Skin and joint manifestations are common and renal
DE disease is relatively rare. Patients with complement component 2
DE deficiency are also reported to have recurrent invasive infections.
SY C2 deficiency.
DR MIM; 217000; phenotype.
DR MedGen; C3150275.
DR MeSH; D007105.
//
ID Complement component 3 deficiency.
AC DI-01307
AR C3D.
DE A rare defect of the complement classical pathway. Patients develop
DE recurrent, severe, pyogenic infections because of ineffective
DE opsonization of pathogens. Some patients may also develop autoimmune
DE disorders, such as arthralgia and vasculitic rashes, lupus-like
DE syndrome and membranoproliferative glomerulonephritis.
SY C3 deficiency autosomal recessive.
SY Complement component 3 deficiency autosomal recessive.
DR MIM; 613779; phenotype.
DR MedGen; C3151071.
DR MeSH; D007154.
//
ID Complement component 4A deficiency.
AC DI-01308
AR C4AD.
DE A rare defect of the complement classical pathway associated with the
DE development of autoimmune disorders, mainly systemic lupus with or
DE without associated glomerulonephritis.
SY C4A deficiency.
DR MIM; 614380; phenotype.
DR MedGen; C3280642.
DR MeSH; D007105.
//
ID Complement component 4B deficiency.
AC DI-03321
AR C4BD.
DE A rare defect of the complement classical pathway associated with the
DE development of autoimmune disorders, mainly systemic lupus with or
DE without associated glomerulonephritis.
SY C4B deficiency.
DR MIM; 614379; phenotype.
DR MedGen; C3280641.
DR MeSH; D007105.
//
ID Complement component 5 deficiency.
AC DI-01372
AR C5D.
DE A rare defect of the complement classical pathway associated with
DE susceptibility to severe recurrent infections, predominantly by
DE Neisseria gonorrhoeae or Neisseria meningitidis.
SY C5 deficiency.
DR MIM; 609536; phenotype.
DR MedGen; C0343047.
DR MeSH; D007154.
//
ID Complement component 6 deficiency.
AC DI-01375
AR C6D.
DE A rare defect of the complement classical pathway associated with
DE susceptibility to severe recurrent infections, predominantly by
DE Neisseria gonorrhoeae or Neisseria meningitidis.
SY C6 deficiency.
SY C6 deficiency subtotal.
SY Complement component 6 deficiency subtotal.
DR MIM; 612446; phenotype.
DR MedGen; C2676232.
DR MedGen; C2676233.
DR MeSH; D007154.
//
ID Complement component 7 deficiency.
AC DI-01382
AR C7D.
DE A rare defect of the complement classical pathway associated with
DE susceptibility to severe recurrent infections, predominantly by
DE Neisseria gonorrhoeae or Neisseria meningitidis.
SY C7 deficiency.
DR MIM; 610102; phenotype.
DR MedGen; C1864694.
DR MeSH; D007154.
//
ID Complement component 8 deficiency, 1.
AC DI-01373
AR C8D1.
DE A rare defect of the complement classical pathway associated with
DE susceptibility to severe recurrent infections, predominantly by
DE Neisseria gonorrhoeae or Neisseria meningitidis.
SY C8 alpha-gamma deficiency.
SY C8 deficiency type I.
SY Complement component 8 deficiency type I.
DR MIM; 613790; phenotype.
DR MedGen; C3151081.
DR MeSH; D007154.
//
ID Complement component 8 deficiency, 2.
AC DI-01374
AR C8D2.
DE A rare defect of the complement classical pathway associated with
DE susceptibility to severe recurrent infections, predominantly by
DE Neisseria gonorrhoeae or Neisseria meningitidis.
SY C8 beta deficiency.
SY C8 deficiency type II.
SY Complement C8B deficiency.
SY Complement component 8 deficiency type II.
DR MIM; 613789; phenotype.
DR MedGen; C3151080.
DR MeSH; D007154.
//
ID Complement component 9 deficiency.
AC DI-01383
AR C9D.
DE A rare defect of the complement classical pathway associated with
DE susceptibility to severe recurrent infections predominantly by
DE Neisseria gonorrhoeae or Neisseria meningitidis. Some patients may
DE develop dermatomyositis.
SY C9 deficiency.
SY C9 deficiency with dermatomyositis.
DR MIM; 613825; phenotype.
DR MedGen; C3151189.
DR MeSH; D007154.
//
ID Complement component C1q deficiency.
AC DI-01305
AR C1QD.
DE A disorder caused by impaired activation of the complement classical
DE pathway. It generally leads to severe immune complex disease with
DE features of systemic lupus erythematosus and glomerulonephritis.
SY C1q deficiency.
DR MIM; 613652; phenotype.
DR MedGen; C3150902.
DR MeSH; D007105.
//
ID Complement component C1s deficiency.
AC DI-02293
AR C1SD.
DE A rare defect resulting in C1 deficiency and impaired activation of
DE the complement classical pathway. C1 deficiency generally leads to
DE severe immune complex disease with features of systemic lupus
DE erythematosus and glomerulonephritis.
SY C1s deficiency.
DR MIM; 613783; phenotype.
DR MedGen; C0398755.
DR MedGen; C3151078.
DR MeSH; D007105.
//
ID Complement factor B deficiency.
AC DI-04018
AR CFBD.
DE An immunologic disorder characterized by increased susceptibility to
DE bacterial infections, particularly Neisseria infections, due to a
DE defect in the alternative complement pathway.
SY Factor B deficiency.
DR MIM; 615561; phenotype.
DR MedGen; C3809950.
DR MedGen; CN183732.
DR MeSH; D007154.
//
ID Complement factor D deficiency.
AC DI-01376
AR CFDD.
DE An immunologic disorder characterized by increased susceptibility to
DE bacterial infections, particularly Neisseria infections, due to a
DE defect in the alternative complement pathway.
SY Factor D deficiency.
DR MIM; 613912; phenotype.
DR MedGen; C0398764.
DR MedGen; C1851396.
DR MeSH; D007154.
//
ID Complement factor H deficiency.
AC DI-01377
AR CFHD.
DE A disorder that can manifest as several different phenotypes,
DE including asymptomatic, recurrent bacterial infections, and renal
DE failure. Laboratory features usually include decreased serum levels of
DE factor H, complement component C3, and a decrease in other terminal
DE complement components, indicating activation of the alternative
DE complement pathway. It is associated with a number of renal diseases
DE with variable clinical presentation and progression, including
DE membranoproliferative glomerulonephritis and atypical hemolytic uremic
DE syndrome.
SY CFH deficiency.
SY Factor H deficiency.
DR MIM; 609814; phenotype.
DR MedGen; C0398777.
DR MedGen; C1969214.
DR MedGen; C1969215.
DR MedGen; C1969216.
DR MeSH; D007154.
//
ID Complement factor I deficiency.
AC DI-01378
AR CFI deficiency.
DE Autosomal recessive condition associated with a propensity to pyogenic
DE infections.
DR MIM; 610984; phenotype.
DR MedGen; C3463916.
//
ID Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy.
AC DI-05079
AR CHAPLE.
DE An autosomal recessive disease characterized by abdominal pain and
DE diarrhea, primary intestinal lymphangiectasia, edema due to
DE hypoproteinemia, malabsorption, and less frequently, bowel
DE inflammation, recurrent infections, and angiopathic thromboembolic
DE disease. Patients' T lymphocytes show increased complement activation
DE causing surface deposition of complement and the generation of soluble
DE C5a.
DR MIM; 226300; phenotype.
DR MedGen; C0033680.
DR MeSH; D011504.
DR MeSH; D013927.
//
ID Cone dystrophy 3.
AC DI-00317
AR COD3.
DE An autosomal dominant cone dystrophy. Cone dystrophies are retinal
DE dystrophies characterized by progressive degeneration of the cone
DE photoreceptors with preservation of rod function, as indicated by
DE electroretinogram. However, some rod involvement may be present in
DE some cone dystrophies, particularly at late stage. Affected
DE individuals suffer from photophobia, loss of visual acuity, color
DE vision and central visual field. Another sign is the absence of
DE macular lesions for many years. Cone dystrophies are distinguished
DE from the cone-rod dystrophies in which some loss of peripheral vision
DE also occurs.
DR MIM; 602093; phenotype.
DR MedGen; C1865869.
DR MeSH; D058499.
//
ID Cone dystrophy 4.
AC DI-02491
AR COD4.
DE An early-onset cone dystrophy. Cone dystrophies are retinal
DE dystrophies characterized by progressive degeneration of the cone
DE photoreceptors with preservation of rod function, as indicated by
DE electroretinogram. However, some rod involvement may be present in
DE some cone dystrophies, particularly at late stage. Affected
DE individuals suffer from photophobia, loss of visual acuity, color
DE vision and central visual field. Another sign is the absence of
DE macular lesions for many years. Cone dystrophies are distinguished
DE from the cone-rod dystrophies in which some loss of peripheral vision
DE also occurs.
DR MIM; 613093; phenotype.
DR MedGen; C2751308.
DR MeSH; D058499.
//
ID Cone dystrophy 5.
AC DI-02905
AR COD5.
DE An X-linked cone dystrophy. Cone dystrophies are retinal dystrophies
DE characterized by progressive degeneration of the cone photoreceptors
DE with preservation of rod function, as indicated by electroretinogram.
DE However, some rod involvement may be present in some cone dystrophies,
DE particularly at late stage. Affected individuals suffer from
DE photophobia, loss of visual acuity, color vision and central visual
DE field. Another sign is the absence of macular lesions for many years.
DE Cone dystrophies are distinguished from the cone-rod dystrophies in
DE which some loss of peripheral vision also occurs.
SY Cone dystrophy 5 X-linked.
DR MIM; 303700; phenotype.
DR MedGen; CN069543.
DR MeSH; D058499.
//
ID Cone dystrophy retinal 3B.
AC DI-00316
AR RCD3B.
DE A rare form of cone dystrophy associated with supernormal rod
DE responses. The disorder is characterized by reduced visual acuity,
DE photoaversion, night blindness, and abnormal color vision. At an early
DE age, the retina shows subtle depigmentation at the macula and, later,
DE more obvious areas of atrophy.
SY Cone dystrophy with night blindness and supernormal rod responses KCNV2-related.
SY Cone dystrophy with supernormal rod electroretinogram.
DR MIM; 610356; phenotype.
DR MedGen; C1835897.
DR MeSH; D058499.
//
ID Cone dystrophy, retinal 3A.
AC DI-00315
AR RCD3A.
DE A rare form of cone dystrophy associated with supernormal rod
DE responses. The disorder is characterized by reduced visual acuity,
DE photoaversion, night blindness, and abnormal color vision. At an early
DE age, the retina shows subtle depigmentation at the macula and, later,
DE more obvious areas of atrophy.
SY Cone dystrophy with night blindness and supernormal rod responses.
SY Cone dystrophy with supernormal rod electroretinogram.
DR MIM; 610024; phenotype.
DR MedGen; C1864900.
DR MedGen; C3552227.
DR MeSH; D058499.
//
ID Cone-rod dystrophy 10.
AC DI-00324
AR CORD10.
DE An inherited retinal dystrophy characterized by retinal pigment
DE deposits visible on fundus examination, predominantly in the macular
DE region, and initial loss of cone photoreceptors followed by rod
DE degeneration. This leads to decreased visual acuity and sensitivity in
DE the central visual field, followed by loss of peripheral vision.
DE Severe loss of vision occurs earlier than in retinitis pigmentosa, due
DE to cone photoreceptors degenerating at a higher rate than rod
DE photoreceptors.
DR MIM; 610283; phenotype.
DR MedGen; C1846529.
DR MeSH; D000071700.
KW KW-0182:Cone-rod dystrophy.
//
ID Cone-rod dystrophy 11.
AC DI-00325
AR CORD11.
DE An inherited retinal dystrophy characterized by retinal pigment
DE deposits visible on fundus examination, predominantly in the macular
DE region, and initial loss of cone photoreceptors followed by rod
DE degeneration. This leads to decreased visual acuity and sensitivity in
DE the central visual field, followed by loss of peripheral vision.
DE Severe loss of vision occurs earlier than in retinitis pigmentosa, due
DE to cone photoreceptors degenerating at a higher rate than rod
DE photoreceptors.
DR MIM; 610381; phenotype.
DR MedGen; C1835865.
DR MeSH; D000071700.
KW KW-0182:Cone-rod dystrophy.
//
ID Cone-rod dystrophy 12.
AC DI-00326
AR CORD12.
DE An inherited retinal dystrophy characterized by retinal pigment
DE deposits visible on fundus examination, predominantly in the macular
DE region, and initial loss of cone photoreceptors followed by rod
DE degeneration. This leads to decreased visual acuity and sensitivity in
DE the central visual field, followed by loss of peripheral vision.
DE Severe loss of vision occurs earlier than in retinitis pigmentosa, due
DE to cone photoreceptors degenerating at a higher rate than rod
DE photoreceptors.
DR MIM; 612657; phenotype.
DR MedGen; C2675210.
DR MeSH; D000071700.
KW KW-0182:Cone-rod dystrophy.
//
ID Cone-rod dystrophy 13.
AC DI-00323
AR CORD13.
DE An inherited retinal dystrophy characterized by retinal pigment
DE deposits visible on fundus examination, predominantly in the macular
DE region, and initial loss of cone photoreceptors followed by rod
DE degeneration. This leads to decreased visual acuity and sensitivity in
DE the central visual field, followed by loss of peripheral vision.
DE Severe loss of vision occurs earlier than in retinitis pigmentosa, due
DE to cone photoreceptors degenerating at a higher rate than rod
DE photoreceptors.
DR MIM; 608194; phenotype.
DR MedGen; C2750720.
DR MeSH; D000071700.
KW KW-0182:Cone-rod dystrophy.
//
ID Cone-rod dystrophy 14.
AC DI-05820
AR CORD14.
DE An autosomal dominant form of cone-rod dystrophy, a retinal disease
DE characterized by retinal pigment deposits visible on fundus
DE examination, predominantly in the macular region, and initial loss of
DE cone photoreceptors followed by rod degeneration. This leads to
DE decreased visual acuity and sensitivity in the central visual field,
DE followed by loss of peripheral vision. Severe loss of vision occurs
DE earlier than in retinitis pigmentosa, due to cone photoreceptors
DE degenerating at a higher rate than rod photoreceptors.
DR MIM; 602093; phenotype.
DR MedGen; C1865869.
DR MeSH; D000071700.
KW KW-0182:Cone-rod dystrophy.
//
ID Cone-rod dystrophy 15.
AC DI-02944
AR CORD15.
DE An inherited retinal dystrophy characterized by retinal pigment
DE deposits visible on fundus examination, predominantly in the macular
DE region, and initial loss of cone photoreceptors followed by rod
DE degeneration. This leads to decreased visual acuity and sensitivity in
DE the central visual field, followed by loss of peripheral vision.
DE Severe loss of vision occurs earlier than in retinitis pigmentosa, due
DE to cone photoreceptors degenerating at a higher rate than rod
DE photoreceptors.
DR MIM; 613660; phenotype.
DR MedGen; C3150912.
DR MedGen; C3552852.
DR MeSH; D000071700.
KW KW-0182:Cone-rod dystrophy.
//
ID Cone-rod dystrophy 16.
AC DI-03355
AR CORD16.
DE An inherited retinal dystrophy characterized by retinal pigment
DE deposits visible on fundus examination, predominantly in the macular
DE region, and initial loss of cone photoreceptors followed by rod
DE degeneration. This leads to decreased visual acuity and sensitivity in
DE the central visual field, followed by loss of peripheral vision.
DE Severe loss of vision occurs earlier than in retinitis pigmentosa, due
DE to cone photoreceptors degenerating at a higher rate than rod
DE photoreceptors.
SY Retinal dystrophy with early macular involvement.
DR MIM; 614500; phenotype.
DR MedGen; C3281045.
DR MeSH; D000071700.
KW KW-0182:Cone-rod dystrophy.
//
ID Cone-rod dystrophy 18.
AC DI-03861
AR CORD18.
DE A form of cone-rod dystrophy, an inherited retinal dystrophy
DE characterized by retinal pigment deposits visible on fundus
DE examination, predominantly in the macular region, and initial loss of
DE cone photoreceptors followed by rod degeneration. This leads to
DE decreased visual acuity and sensitivity in the central visual field,
DE followed by loss of peripheral vision. Severe loss of vision occurs
DE earlier than in retinitis pigmentosa, due to cone photoreceptors
DE degenerating at a higher rate than rod photoreceptors.
DR MIM; 615374; phenotype.
DR MedGen; C3809299.
DR MedGen; CN178852.
DR MeSH; D000071700.
KW KW-0182:Cone-rod dystrophy.
//
ID Cone-rod dystrophy 19.
AC DI-04129
AR CORD19.
DE A form of cone-rod dystrophy, an inherited retinal dystrophy
DE characterized by retinal pigment deposits visible on fundus
DE examination, predominantly in the macular region, and initial loss of
DE cone photoreceptors followed by rod degeneration. This leads to
DE decreased visual acuity and sensitivity in the central visual field,
DE followed by loss of peripheral vision. Severe loss of vision occurs
DE earlier than in retinitis pigmentosa, due to cone photoreceptors
DE degenerating at a higher rate than rod photoreceptors.
DR MIM; 615860; phenotype.
DR MedGen; CN189125.
DR MeSH; D000071700.
KW KW-0182:Cone-rod dystrophy.
//
ID Cone-rod dystrophy 2.
AC DI-00318
AR CORD2.
DE An inherited retinal dystrophy characterized by retinal pigment
DE deposits visible on fundus examination, predominantly in the macular
DE region, and initial loss of cone photoreceptors followed by rod
DE degeneration. This leads to decreased visual acuity and sensitivity in
DE the central visual field, followed by loss of peripheral vision.
DE Severe loss of vision occurs earlier than in retinitis pigmentosa, due
DE to cone photoreceptors degenerating at a higher rate than rod
DE photoreceptors.
SY Cone-rod retinal dystrophy 2.
SY CRD2.
DR MIM; 120970; phenotype.
DR MedGen; C3489532.
DR MedGen; CN074280.
DR MeSH; D058499.
KW KW-0182:Cone-rod dystrophy.
//
ID Cone-rod dystrophy 20.
AC DI-04189
AR CORD20.
DE A form of cone-rod dystrophy, an inherited retinal dystrophy
DE characterized by retinal pigment deposits visible on fundus
DE examination, predominantly in the macular region, and initial loss of
DE cone photoreceptors followed by rod degeneration. This leads to
DE decreased visual acuity and sensitivity in the central visual field,
DE followed by loss of peripheral vision. Severe loss of vision occurs
DE earlier than in retinitis pigmentosa, due to cone photoreceptors
DE degenerating at a higher rate than rod photoreceptors.
DR MIM; 615973; phenotype.
DR MedGen; CN219005.
DR MeSH; D058499.
KW KW-0182:Cone-rod dystrophy.
//
ID Cone-rod dystrophy 21.
AC DI-04505
AR CORD21.
DE A form of cone-rod dystrophy, an inherited retinal dystrophy
DE characterized by retinal pigment deposits visible on fundus
DE examination, predominantly in the macular region, and initial loss of
DE cone photoreceptors followed by rod degeneration. This leads to
DE decreased visual acuity and sensitivity in the central visual field,
DE followed by loss of peripheral vision. Severe loss of vision occurs
DE earlier than in retinitis pigmentosa, due to cone photoreceptors
DE degenerating at a higher rate than rod photoreceptors.
SY Retinal dystrophy with early macular involvement.
DR MIM; 616502; phenotype.
DR MedGen; CN231743.
DR MeSH; D058499.
KW KW-0182:Cone-rod dystrophy.
//
ID Cone-rod dystrophy 22.
AC DI-06228
AR CORD22.
DE An autosomal recessive form of cone-rod dystrophy, an inherited
DE retinal dystrophy characterized by retinal pigment deposits visible on
DE fundus examination, predominantly in the macular region, and initial
DE loss of cone photoreceptors followed by rod degeneration. This leads
DE to decreased visual acuity and sensitivity in the central visual
DE field, followed by loss of peripheral vision. Severe loss of vision
DE occurs earlier than in retinitis pigmentosa, due to cone
DE photoreceptors degenerating at a higher rate than rod photoreceptors.
DR MIM; 619531; phenotype.
DR MedGen; CN300475.
DR MeSH; D058499.
KW KW-0182:Cone-rod dystrophy.
//
ID Cone-rod dystrophy 3.
AC DI-00319
AR CORD3.
DE An inherited retinal dystrophy characterized by retinal pigment
DE deposits visible on fundus examination, predominantly in the macular
DE region, and initial loss of cone photoreceptors followed by rod
DE degeneration. This leads to decreased visual acuity and sensitivity in
DE the central visual field, followed by loss of peripheral vision.
DE Severe loss of vision occurs earlier than in retinitis pigmentosa, due
DE to cone photoreceptors degenerating at a higher rate than rod
DE photoreceptors.
DR MIM; 604116; phenotype.
DR MedGen; C1858806.
DR MeSH; D058499.
KW KW-0182:Cone-rod dystrophy.
//
ID Cone-rod dystrophy 5.
AC DI-00320
AR CORD5.
DE An inherited retinal dystrophy characterized by retinal pigment
DE deposits visible on fundus examination, predominantly in the macular
DE region, and initial loss of cone photoreceptors followed by rod
DE degeneration. This leads to decreased visual acuity and sensitivity in
DE the central visual field, followed by loss of peripheral vision.
DE Severe loss of vision occurs earlier than in retinitis pigmentosa, due
DE to cone photoreceptors degenerating at a higher rate than rod
DE photoreceptors.
DR MIM; 600977; phenotype.
DR MedGen; C1832976.
DR MeSH; D058499.
KW KW-0182:Cone-rod dystrophy.
//
ID Cone-rod dystrophy 6.
AC DI-00321
AR CORD6.
DE An inherited retinal dystrophy characterized by retinal pigment
DE deposits visible on fundus examination, predominantly in the macular
DE region, and initial loss of cone photoreceptors followed by rod
DE degeneration. This leads to decreased visual acuity and sensitivity in
DE the central visual field, followed by loss of peripheral vision.
DE Severe loss of vision occurs earlier than in retinitis pigmentosa, due
DE to cone photoreceptors degenerating at a higher rate than rod
DE photoreceptors.
DR MIM; 601777; phenotype.
DR MedGen; C1866293.
DR MeSH; D058499.
KW KW-0182:Cone-rod dystrophy.
//
ID Cone-rod dystrophy 7.
AC DI-00322
AR CORD7.
DE An inherited retinal dystrophy characterized by retinal pigment
DE deposits visible on fundus examination, predominantly in the macular
DE region, and initial loss of cone photoreceptors followed by rod
DE degeneration. This leads to decreased visual acuity and sensitivity in
DE the central visual field, followed by loss of peripheral vision.
DE Severe loss of vision occurs earlier than in retinitis pigmentosa, due
DE to cone photoreceptors degenerating at a higher rate than rod
DE photoreceptors.
DR MIM; 603649; phenotype.
DR MedGen; C1863634.
DR MeSH; D058499.
KW KW-0182:Cone-rod dystrophy.
//
ID Cone-rod dystrophy 9.
AC DI-02490
AR CORD9.
DE An inherited retinal dystrophy characterized by retinal pigment
DE deposits visible on fundus examination, predominantly in the macular
DE region, and initial loss of cone photoreceptors followed by rod
DE degeneration. This leads to decreased visual acuity and sensitivity in
DE the central visual field, followed by loss of peripheral vision.
DE Severe loss of vision occurs earlier than in retinitis pigmentosa, due
DE to cone photoreceptors degenerating at a higher rate than rod
DE photoreceptors.
DR MIM; 612775; phenotype.
DR MedGen; C1423873.
DR MeSH; D058499.
KW KW-0182:Cone-rod dystrophy.
//
ID Cone-rod dystrophy and hearing loss 1.
AC DI-04912
AR CRDHL1.
DE An autosomal recessive disease defined by the association of
DE progressive cone-rod dystrophy with sensorineural hearing loss. Cone-
DE rod dystrophy is characterized by retinal pigment deposits visible on
DE fundus examination, predominantly in the macular region, and initial
DE loss of cone photoreceptors followed by rod degeneration. This leads
DE to decreased visual acuity and sensitivity in the central visual
DE field, followed by loss of peripheral vision. Severe loss of vision
DE occurs earlier than in retinitis pigmentosa, due to cone
DE photoreceptors degenerating at a higher rate than rod photoreceptors.
DR MIM; 617236; phenotype.
DR MedGen; CN239548.
DR MeSH; D054062.
KW KW-0182:Cone-rod dystrophy.
KW KW-0209:Deafness.
//
ID Cone-rod dystrophy and hearing loss 2.
AC DI-05510
AR CRDHL2.
DE An autosomal recessive disease defined by the association of
DE progressive cone-rod dystrophy with sensorineural hearing loss. Cone-
DE rod dystrophy is characterized by retinal pigment deposits visible on
DE fundus examination, predominantly in the macular region, and initial
DE loss of cone photoreceptors followed by rod degeneration. This leads
DE to decreased visual acuity and sensitivity in the central visual
DE field, followed by loss of peripheral vision. Severe loss of vision
DE occurs earlier than in retinitis pigmentosa, due to cone
DE photoreceptors degenerating at a higher rate than rod photoreceptors.
DR MIM; 618358; phenotype.
DR MedGen; CN258248.
DR MeSH; D054062.
KW KW-0182:Cone-rod dystrophy.
KW KW-0209:Deafness.
//
ID Cone-rod dystrophy, X-linked 1.
AC DI-00327
AR CORDX1.
DE An inherited retinal dystrophy characterized by retinal pigment
DE deposits visible on fundus examination, predominantly in the macular
DE region, and initial loss of cone photoreceptors followed by rod
DE degeneration. This leads to decreased visual acuity and sensitivity in
DE the central visual field, followed by loss of peripheral vision.
DE Severe loss of vision occurs earlier than in retinitis pigmentosa. In
DE cone-rod dystrophy X-linked type 1 the degree of rod-photoreceptor
DE involvement can be variable, with degeneration increasing as the
DE disease progresses. Affected individuals (essentially all of whom are
DE males) present with decreased visual acuity, myopia, photophobia,
DE abnormal color vision, full peripheral visual fields, decreased
DE photopic electroretinographic responses, and granularity of the
DE macular retinal pigment epithelium. Although penetrance appears to be
DE nearly 100%, there is variable expressivity with respect to age at
DE onset and severity of symptoms.
SY COD1.
SY Cone dystrophy X-linked 1.
DR MIM; 304020; phenotype.
DR MedGen; C1844776.
DR MedGen; C1844777.
DR MeSH; D058499.
KW KW-0182:Cone-rod dystrophy.
//
ID Cone-rod dystrophy, X-linked 3.
AC DI-00328
AR CORDX3.
DE An inherited retinal dystrophy characterized by retinal pigment
DE deposits visible on fundus examination, predominantly in the macular
DE region, and initial loss of cone photoreceptors followed by rod
DE degeneration. This leads to decreased visual acuity and sensitivity in
DE the central visual field, followed by loss of peripheral vision.
DE Severe loss of vision occurs earlier than in retinitis pigmentosa, due
DE to cone photoreceptors degenerating at a higher rate than rod
DE photoreceptors.
DR MIM; 300476; phenotype.
DR MedGen; C1845407.
DR MeSH; D058499.
KW KW-0182:Cone-rod dystrophy.
//
ID Cone-rod synaptic disorder syndrome, congenital non-progressive.
AC DI-05888
AR CRSDS.
DE An autosomal recessive disorder characterized by reduced visual
DE acuity, photophobia, nystagmus, distinctive electroretinographic
DE features, neurodevelopmental delay, poor or absent language, autistic
DE behaviors, and abnormal glucose homeostasis.
DR MIM; 618970; phenotype.
DR MedGen; CN283300.
DR MeSH; D014786.
DR MeSH; D065886.
//
ID Cone-rod synaptic disorder, congenital non-progressive.
AC DI-00378
AR CRSD.
DE A non-progressive retinal disorder characterized by stable low vision,
DE nystagmus, photophobia, a normal or near-normal fundus appearance, and
DE no night blindness.
SY CSNB2B.
SY Incomplete autosomal recessive CSNB.
SY Incomplete congenital stationary night blindness autosomal recessive.
SY Night blindness, congenital stationary, 2B.
DR MIM; 610427; phenotype.
DR MedGen; C1864877.
DR MeSH; D014786.
//
ID Congenital afibrinogenemia.
AC DI-01387
AR CAFBN.
DE Rare autosomal recessive disorder is characterized by bleeding that
DE varies from mild to severe and by complete absence or extremely low
DE levels of plasma and platelet fibrinogen.
DR MIM; 202400; phenotype.
DR MedGen; C1859970.
DR MedGen; CN071205.
//
ID Congenital amegakaryocytic thrombocytopenia.
AC DI-01388
AR CAMT.
DE Disease characterized by isolated thrombocytopenia and
DE megakaryocytopenia with no physical anomalies.
DR MIM; 604498; phenotype.
DR MedGen; C1327915.
//
ID Congenital anomalies of kidney and urinary tract 2.
AC DI-04535
AR CAKUT2.
DE A disorder encompassing a broad spectrum of renal and urinary tract
DE malformations that include renal agenesis, kidney hypodysplasia,
DE multicystic kidney dysplasia, duplex collecting system, posterior
DE urethral valves and ureter abnormalities. Congenital anomalies of
DE kidney and urinary tract are the commonest cause of chronic kidney
DE disease in children.
SY Hydronephrosis due to PUJO.
SY MCRD.
SY Multicystic renal dysplasia, bilateral.
SY Pelviureteric junction obstruction.
SY PUJO.
SY UPJO.
SY Ureteropelvic junction obstruction.
DR MIM; 143400; phenotype.
DR MedGen; C1840451.
DR MeSH; D014564.
//
ID Congenital anomalies of kidney and urinary tract 3.
AC DI-05447
AR CAKUT3.
DE A disorder encompassing a broad spectrum of renal and urinary tract
DE malformations that include renal agenesis, kidney hypodysplasia,
DE multicystic kidney dysplasia, duplex collecting system, posterior
DE urethral valves and ureter abnormalities. Congenital anomalies of
DE kidney and urinary tract are the commonest cause of chronic kidney
DE disease in children. CAKUT3 inheritance is autosomal dominant.
DR MIM; 618270; phenotype.
DR MedGen; CN258052.
DR MeSH; D014564.
//
ID Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay.
AC DI-05075
AR CAKUTHED.
DE An autosomal dominant disorder characterized by variable congenital
DE anomalies of the kidney and urinary tract, sometimes resulting in
DE renal dysfunction or failure, dysmorphic facial features, and
DE abnormalities of the outer ear. Most patients have hearing loss, and
DE some may have global developmental delay.
DR MIM; 617641; phenotype.
DR MedGen; CN417140.
DR MeSH; D014564.
//
ID Congenital anomalies of the kidney and urinary tract 1.
AC DI-04107
AR CAKUT1.
DE A disorder encompassing a broad spectrum of renal and urinary tract
DE malformations that include renal agenesis, kidney hypodysplasia,
DE multicystic kidney dysplasia, duplex collecting system, posterior
DE urethral valves and ureter abnormalities. Congenital anomalies of
DE kidney and urinary tract are the commonest cause of chronic kidney
DE disease in children.
SY Non-syndromic renal hypodysplasia 1.
SY Renal hypodysplasia, nonsyndromic, 1.
SY RHDNS1.
DR MIM; 610805; phenotype.
DR MedGen; C1835826.
DR MeSH; D014564.
//
ID Congenital arthrogryposis with anterior horn cell disease.
AC DI-00643
AR CAAHD.
DE An autosomal recessive disorder characterized by fetal akinesia,
DE arthrogryposis and motor neuron loss. The fetus often survives
DE delivery, but dies early as a result of respiratory failure.
DE Neuropathological findings resemble those of lethal congenital
DE contracture syndrome type 1, but are less severe.
SY LAAHD.
SY Lethal arthrogryposis with anterior horn cell disease.
DR MIM; 611890; phenotype.
DR MedGen; C2678471.
DR MeSH; D001176.
DR MeSH; D016472.
//
ID Congenital bilateral absence of the vas deferens.
AC DI-01389
AR CBAVD.
DE An autosomal recessive disease characterized by vas deferens aplasia
DE resulting in azoospermia and male infertility. CBAVD may occur in
DE isolation or as a manifestation of cystic fibrosis.
SY CAVD.
DR MIM; 277180; phenotype.
DR MedGen; C0403814.
DR MedGen; CN032726.
DR MeSH; D052801.
//
ID Congenital bilateral aplasia of the vas deferens, X-linked.
AC DI-04817
AR CBAVDX.
DE A disease characterized by bilateral absence of vas deferens,
DE obstructive azoospermia, and infertility.
DR MIM; 300985; phenotype.
DR MedGen; CN238523.
DR MeSH; D052801.
//
ID Congenital bile acid synthesis defect 1.
AC DI-00329
AR CBAS1.
DE A primary defect in bile synthesis leading to progressive liver
DE disease. Clinical features include neonatal jaundice, severe
DE intrahepatic cholestasis, cirrhosis.
SY 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency.
SY Neonatal progressive intrahepatic cholestasis.
SY PFIC4.
SY Progressive familial intrahepatic cholestasis type 4.
DR MIM; 607765; phenotype.
DR MedGen; C1843116.
DR MeSH; D002780.
KW KW-0988:Intrahepatic cholestasis.
//
ID Congenital bile acid synthesis defect 2.
AC DI-00330
AR CBAS2.
DE A condition characterized by jaundice, intrahepatic cholestasis and
DE hepatic failure. Patients with this liver disease show absence or low
DE levels of chenodeoxycholic acid and cholic acid in plasma and urine.
SY Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency.
DR MIM; 235555; phenotype.
DR MedGen; C1856127.
DR MeSH; D002780.
KW KW-0988:Intrahepatic cholestasis.
//
ID Congenital bile acid synthesis defect 3.
AC DI-00331
AR CBAS3.
DE A disorder resulting in severe cholestasis, cirrhosis and liver
DE synthetic failure. Hepatic microsomal oxysterol 7-alpha-hydroxylase
DE activity is undetectable.
DR MIM; 613812; phenotype.
DR MedGen; C3151147.
DR MeSH; D002780.
KW KW-0988:Intrahepatic cholestasis.
//
ID Congenital bile acid synthesis defect 4.
AC DI-00332
AR CBAS4.
DE A disorder characterized by the presence of trihydroxycoprostanic acid
DE in the bile and absence of cholic acid. Patients manifest neonatal
DE jaundice, intrahepatic cholestasis and bile duct deficiency.
SY Intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid.
SY Trihydroxycoprostanic acid in bile.
DR MIM; 214950; phenotype.
DR MedGen; C1858328.
DR MeSH; D002780.
KW KW-0988:Intrahepatic cholestasis.
//
ID Congenital bile acid synthesis defect 5.
AC DI-04360
AR CBAS5.
DE An autosomal recessive disorder characterized by hepatosplenomegaly,
DE hepatic fibrosis, progressive liver failure, and accumulation of
DE peroxisomal C27-bile acid intermediates in plasma.
DR MIM; 616278; phenotype.
DR MedGen; CN228775.
DR MeSH; D008107.
//
ID Congenital bile acid synthesis defect 6.
AC DI-04924
AR CBAS6.
DE An inborn error of bile acid synthesis characterized by abnormally
DE increased liver enzymes, hypolipidemia and low cholesterol, vitamin D
DE deficiency, elevated plasma and urinary levels of C27 intermediate
DE bile acids 3alpha,7alpha-dihydroxy-5beta-cholestanoic acid (DHCA) and
DE 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoic acid (THCA). Serum
DE levels of phytanic and pristanic acids are normal. Clinical features
DE include liver fibrosis, mild ataxia, delayed development, and
DE cognitive impairment. Liver histology shows many thin fibrous septa,
DE swollen hepatocytes, glycogenated nuclei, and focal acinar
DE transformation, consistent with hepatocellular injury and
DE regeneration, without signs of obvious cholestasis, cholate stasis, or
DE steatosis. CBAS6 transmission pattern is consistent with autosomal
DE recessive inheritance.
DR MIM; 617308; phenotype.
DR MedGen; CN240352.
DR MeSH; D002780.
//
ID Congenital cataracts, facial dysmorphism, and neuropathy.
AC DI-01390
AR CCFDN.
DE An autosomal recessive developmental disorder characterized by a
DE complex clinical phenotype with seemingly unrelated features involving
DE multiple organs and systems. Developmental abnormalities include
DE congenital cataracts and microcorneae, hypomyelination of the
DE peripheral nervous system, impaired physical growth, delayed early
DE motor and intellectual development, facial dysmorphism and
DE hypogonadism. Central nervous system involvement, with cerebral and
DE spinal cord atrophy, may be the result of disrupted development with
DE superimposed degenerative changes. Affected individuals are prone to
DE severe rhabdomyolysis after viral infections and to serious
DE complications related to general anesthesia (such as pulmonary edema
DE and epileptic seizures).
DR MIM; 604168; phenotype.
DR MedGen; C1858726.
DR MeSH; D000015.
KW KW-0622:Neuropathy.
KW KW-0898:Cataract.
//
ID Congenital cataracts, hearing loss, and neurodegeneration.
AC DI-03388
AR CCHLND.
DE An autosomal recessive disorder characterized by congenital cataracts,
DE severe psychomotor retardation, and hearing loss associated with
DE decreased serum ceruloplasmin and copper. Brain MRI shows cerebral and
DE cerebellar atrophy and hypomyelination.
DR MIM; 614482; phenotype.
DR MedGen; C3280965.
DR MeSH; D000015.
KW KW-0209:Deafness.
KW KW-0523:Neurodegeneration.
KW KW-0898:Cataract.
//
ID Congenital contractures of the limbs and face, hypotonia, and developmental delay.
AC DI-04355
AR CLIFAHDD.
DE A disease characterized by congenital contractures of the limbs and
DE face, resulting in characteristic facial features, abnormal tone, most
DE commonly manifested as hypotonia, and variable degrees of
DE developmental delay.
DR MIM; 616266; phenotype.
DR MedGen; CN228594.
DR MeSH; D001176.
//
ID Congenital disorder of deglycosylation 1.
AC DI-03774
AR CDDG1.
DE An autosomal recessive multisystem disorder characterized by
DE developmental delay, hypotonia, abnormal involuntary movements and
DE alacrima or poor tear production. Other features include microcephaly,
DE intractable seizures, abnormal eye movements and evidence of liver
DE dysfunction, probably due to cytoplasmic accumulation of storage
DE material in vacuoles.
SY CDDG.
SY CDG1V.
SY CDGIv.
SY CDG Iv.
SY CDG-Iv.
SY Congenital disorder of deglycosylation.
SY Congenital disorder of glycosylation 1V.
SY Congenital disorder of glycosylation type Iv.
DR MIM; 615273; phenotype.
DR MedGen; C3808991.
DR MedGen; CN176766.
DR MeSH; D002239.
//
ID Congenital disorder of deglycosylation 2.
AC DI-06360
AR CDDG2.
DE An autosomal recessive disorder characterized by facial dysmorphism,
DE congenital anomalies such as tongue hamartoma, variable degrees of
DE intellectual disability, and brain anomalies including polymicrogyria,
DE interhemispheric cysts, hypothalamic hamartoma, callosal anomalies,
DE and hypoplasia of brainstem and cerebellar vermis.
DR MIM; 619775; phenotype.
DR MedGen; CN306959.
DR MeSH; D002239.
//
ID Congenital disorder of glycosylation 1A.
AC DI-00333
AR CDG1A.
DE A form of congenital disorder of glycosylation, a multisystem disorder
DE caused by a defect in glycoprotein biosynthesis and characterized by
DE under-glycosylated serum glycoproteins. Congenital disorders of
DE glycosylation result in a wide variety of clinical features, such as
DE defects in the nervous system development, psychomotor retardation,
DE dysmorphic features, hypotonia, coagulation disorders, and
DE immunodeficiency. The broad spectrum of features reflects the critical
DE role of N-glycoproteins during embryonic development, differentiation,
DE and maintenance of cell functions. CDG1A is an autosomal recessive
DE disorder characterized by a severe encephalopathy with axial
DE hypotonia, abnormal eye movement, and pronounced psychomotor
DE retardation, as well as peripheral neuropathy, cerebellar hypoplasia,
DE and retinitis pigmentosa. Patients show a peculiar distribution of
DE subcutaneous fat, nipple retraction, and hypogonadism.
SY Carbohydrate-deficient glycoprotein syndrome type Ia.
SY CDGIa.
SY CDG Ia.
SY CDG-Ia.
SY CDGS1A.
SY Congenital disorder of glycosylation type Ia.
SY Jaeken's syndrome.
SY Jaeken syndrome.
SY Phosphomannomutase 2 deficiency.
SY PMM2 deficiency.
DR MIM; 212065; phenotype.
DR MedGen; C0349653.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 1AA.
AC DI-04809
AR CDG1AA.
DE A form of congenital disorder of glycosylation, a multisystem disorder
DE caused by a defect in glycoprotein biosynthesis and characterized by
DE under-glycosylated serum glycoproteins. Congenital disorders of
DE glycosylation result in a wide variety of clinical features, such as
DE defects in the nervous system development, psychomotor retardation,
DE dysmorphic features, hypotonia, coagulation disorders, and
DE immunodeficiency. The broad spectrum of features reflects the critical
DE role of N-glycoproteins during embryonic development, differentiation,
DE and maintenance of cell functions. CDG1AA inheritance is autosomal
DE recessive.
SY Congenital disorder of glycosylation, type 1aa.
DR MIM; 617082; phenotype.
DR MedGen; CN238090.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 1B.
AC DI-00334
AR CDG1B.
DE A form of congenital disorder of glycosylation, a multisystem disorder
DE caused by a defect in glycoprotein biosynthesis and characterized by
DE under-glycosylated serum glycoproteins. Congenital disorders of
DE glycosylation result in a wide variety of clinical features, such as
DE defects in the nervous system development, psychomotor retardation,
DE dysmorphic features, hypotonia, coagulation disorders, and
DE immunodeficiency. The broad spectrum of features reflects the critical
DE role of N-glycoproteins during embryonic development, differentiation,
DE and maintenance of cell functions. CDG1B is clinically characterized
DE by protein-losing enteropathy.
SY Carbohydrate-deficient glycoprotein syndrome type Ib.
SY CDG gastrointestinal type.
SY CDGIb.
SY CDG Ib.
SY CDG-Ib.
SY CDGS1B.
SY Congenital disorder of glycosylation type Ib.
SY Mannosephosphate isomerase deficiency.
SY MPI deficiency.
SY Protein-losing enteropathy-hepatic fibrosis syndrome.
SY Saguenay-Lac Saint-Jean syndrome.
SY SLSJ syndrome.
DR MIM; 602579; phenotype.
DR MedGen; C1865145.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 1BB.
AC DI-05282
AR CDG1BB.
DE A form of congenital disorder of glycosylation, a multisystem disorder
DE caused by a defect in glycoprotein biosynthesis and characterized by
DE under-glycosylated serum glycoproteins. Congenital disorders of
DE glycosylation result in a wide variety of clinical features, such as
DE defects in the nervous system development, psychomotor retardation,
DE dysmorphic features, hypotonia, coagulation disorders, and
DE immunodeficiency. The broad spectrum of features reflects the critical
DE role of N-glycoproteins during embryonic development, differentiation,
DE and maintenance of cell functions. CDG1BB inheritance is autosomal
DE recessive.
DR MIM; 613861; phenotype.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 1C.
AC DI-00335
AR CDG1C.
DE A form of congenital disorder of glycosylation, a multisystem disorder
DE caused by a defect in glycoprotein biosynthesis and characterized by
DE under-glycosylated serum glycoproteins. Congenital disorders of
DE glycosylation result in a wide variety of clinical features, such as
DE defects in the nervous system development, psychomotor retardation,
DE dysmorphic features, hypotonia, coagulation disorders, and
DE immunodeficiency. The broad spectrum of features reflects the critical
DE role of N-glycoproteins during embryonic development, differentiation,
DE and maintenance of cell functions.
SY Carbohydrate-deficient glycoprotein syndrome type V.
SY CDGS5.
DR MIM; 603147; phenotype.
DR MedGen; C1864178.
DR MedGen; C2930997.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 1CC.
AC DI-05648
AR CDG1CC.
DE A form of congenital disorder of glycosylation, a multisystem disorder
DE caused by a defect in glycoprotein biosynthesis and characterized by
DE under-glycosylated serum glycoproteins. Congenital disorders of
DE glycosylation result in a wide variety of clinical features, such as
DE defects in the nervous system development, psychomotor retardation,
DE dysmorphic features, hypotonia, coagulation disorders, and
DE immunodeficiency. The broad spectrum of features reflects the critical
DE role of N-glycoproteins during embryonic development, differentiation,
DE and maintenance of cell functions. CDG1CC is an X-linked recessive
DE form mainly characterized by intellectual and developmental
DE disability.
SY Congenital disorder of glycosylation, type Icc.
DR MIM; 301031; phenotype.
DR MedGen; CN262278.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 1D.
AC DI-00336
AR CDG1D.
DE A form of congenital disorder of glycosylation, a multisystem disorder
DE caused by a defect in glycoprotein biosynthesis and characterized by
DE under-glycosylated serum glycoproteins. Congenital disorders of
DE glycosylation result in a wide variety of clinical features, such as
DE defects in the nervous system development, psychomotor retardation,
DE dysmorphic features, hypotonia, coagulation disorders, and
DE immunodeficiency. The broad spectrum of features reflects the critical
DE role of N-glycoproteins during embryonic development, differentiation,
DE and maintenance of cell functions.
SY Carbohydrate-deficient glycoprotein syndrome type IV.
SY CDGS4.
DR MIM; 601110; phenotype.
DR MedGen; C1832736.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 1E.
AC DI-00337
AR CDG1E.
DE A form of congenital disorder of glycosylation, a multisystem disorder
DE caused by a defect in glycoprotein biosynthesis and characterized by
DE under-glycosylated serum glycoproteins. Congenital disorders of
DE glycosylation result in a wide variety of clinical features, such as
DE defects in the nervous system development, psychomotor retardation,
DE dysmorphic features, hypotonia, coagulation disorders, and
DE immunodeficiency. The broad spectrum of features reflects the critical
DE role of N-glycoproteins during embryonic development, differentiation,
DE and maintenance of cell functions. Some CDG1E patients have features
DE consistent with a dystroglycanopathy and congenital muscular
DE dystrophy, including O-mannosylation defect, camptodactyly, elevated
DE creatine kinase, motor delay and dystrophic changes on muscel biopsy.
DR MIM; 608799; phenotype.
DR MedGen; C1837396.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
KW KW-0912:Congenital muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Congenital disorder of glycosylation 1F.
AC DI-00338
AR CDG1F.
DE A form of congenital disorder of glycosylation, a multisystem disorder
DE caused by a defect in glycoprotein biosynthesis and characterized by
DE under-glycosylated serum glycoproteins. Congenital disorders of
DE glycosylation result in a wide variety of clinical features, such as
DE defects in the nervous system development, psychomotor retardation,
DE dysmorphic features, hypotonia, coagulation disorders, and
DE immunodeficiency. The broad spectrum of features reflects the critical
DE role of N-glycoproteins during embryonic development, differentiation,
DE and maintenance of cell functions.
SY CDGIf.
SY CDG If.
SY CDG-If.
SY Congenital disorder of glycosylation type If.
DR MIM; 609180; phenotype.
DR MedGen; C1836669.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 1G.
AC DI-00339
AR CDG1G.
DE A form of congenital disorder of glycosylation, a multisystem disorder
DE caused by a defect in glycoprotein biosynthesis and characterized by
DE under-glycosylated serum glycoproteins. Congenital disorders of
DE glycosylation result in a wide variety of clinical features, such as
DE defects in the nervous system development, psychomotor retardation,
DE dysmorphic features, hypotonia, coagulation disorders, and
DE immunodeficiency. The broad spectrum of features reflects the critical
DE role of N-glycoproteins during embryonic development, differentiation,
DE and maintenance of cell functions.
SY CDGIg.
SY CDG Ig.
SY CDG-Ig.
SY Congenital disorder of glycosylation type Ig.
DR MIM; 607143; phenotype.
DR MedGen; C1846695.
DR MedGen; C2931001.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 1H.
AC DI-00340
AR CDG1H.
DE A form of congenital disorder of glycosylation, a multisystem disorder
DE caused by a defect in glycoprotein biosynthesis and characterized by
DE under-glycosylated serum glycoproteins. Congenital disorders of
DE glycosylation result in a wide variety of clinical features, such as
DE defects in the nervous system development, psychomotor retardation,
DE dysmorphic features, hypotonia, coagulation disorders, and
DE immunodeficiency. The broad spectrum of features reflects the critical
DE role of N-glycoproteins during embryonic development, differentiation,
DE and maintenance of cell functions.
SY CDGIh.
SY CDG Ih.
SY CDG-Ih.
SY Congenital disorder of glycosylation type Ih.
DR MIM; 608104; phenotype.
DR MedGen; C1842539.
DR MedGen; C2931002.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 1I.
AC DI-00341
AR CDG1I.
DE A form of congenital disorder of glycosylation, a multisystem disorder
DE caused by a defect in glycoprotein biosynthesis and characterized by
DE under-glycosylated serum glycoproteins. Congenital disorders of
DE glycosylation result in a wide variety of clinical features, such as
DE defects in the nervous system development, psychomotor retardation,
DE dysmorphic features, hypotonia, coagulation disorders, and
DE immunodeficiency. The broad spectrum of features reflects the critical
DE role of N-glycoproteins during embryonic development, differentiation,
DE and maintenance of cell functions.
SY CDGIi.
SY CDG Ii.
SY CDG-Ii.
SY Congenital disorder of glycosylation type Ii.
DR MIM; 607906; phenotype.
DR MedGen; C1842836.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 1J.
AC DI-00342
AR CDG1J.
DE A form of congenital disorder of glycosylation, a multisystem disorder
DE caused by a defect in glycoprotein biosynthesis and characterized by
DE under-glycosylated serum glycoproteins. Congenital disorders of
DE glycosylation result in a wide variety of clinical features, such as
DE defects in the nervous system development, psychomotor retardation,
DE dysmorphic features, hypotonia, coagulation disorders, and
DE immunodeficiency. The broad spectrum of features reflects the critical
DE role of N-glycoproteins during embryonic development, differentiation,
DE and maintenance of cell functions.
SY CDGIj.
SY CDG Ij.
SY CDG-Ij.
SY Congenital disorder of glycosylation type Ij.
DR MIM; 608093; phenotype.
DR MedGen; C1842572.
DR MedGen; C2931004.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 1K.
AC DI-00343
AR CDG1K.
DE A form of congenital disorder of glycosylation, a multisystem disorder
DE caused by a defect in glycoprotein biosynthesis and characterized by
DE under-glycosylated serum glycoproteins. Congenital disorders of
DE glycosylation result in a wide variety of clinical features, such as
DE defects in the nervous system development, psychomotor retardation,
DE dysmorphic features, hypotonia, coagulation disorders, and
DE immunodeficiency. The broad spectrum of features reflects the critical
DE role of N-glycoproteins during embryonic development, differentiation,
DE and maintenance of cell functions.
SY CDGIk.
SY CDG Ik.
SY CDG-Ik.
SY Congenital disorder of glycosylation type Ik.
DR MIM; 608540; phenotype.
DR MedGen; C1837896.
DR MedGen; C2931005.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 1L.
AC DI-00344
AR CDG1L.
DE A form of congenital disorder of glycosylation, a multisystem disorder
DE caused by a defect in glycoprotein biosynthesis and characterized by
DE under-glycosylated serum glycoproteins. Congenital disorders of
DE glycosylation result in a wide variety of clinical features, such as
DE defects in the nervous system development, psychomotor retardation,
DE dysmorphic features, hypotonia, coagulation disorders, and
DE immunodeficiency. The broad spectrum of features reflects the critical
DE role of N-glycoproteins during embryonic development, differentiation,
DE and maintenance of cell functions.
SY CDGIl.
SY CDG Il.
SY CDG-Il.
SY Congenital disorder of glycosylation type Il.
DR MIM; 608776; phenotype.
DR MedGen; C1837438.
DR MedGen; C2931006.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 1M.
AC DI-00345
AR CDG1M.
DE A form of congenital disorder of glycosylation, a multisystem disorder
DE caused by a defect in glycoprotein biosynthesis and characterized by
DE under-glycosylated serum glycoproteins. Congenital disorders of
DE glycosylation result in a wide variety of clinical features, such as
DE defects in the nervous system development, psychomotor retardation,
DE dysmorphic features, hypotonia, coagulation disorders, and
DE immunodeficiency. The broad spectrum of features reflects the critical
DE role of N-glycoproteins during embryonic development, differentiation,
DE and maintenance of cell functions. CDG1M is a very severe disease with
DE death occurring in early life.
SY CDGIm.
SY CDG Im.
SY CDG-Im.
SY Congenital disorder of glycosylation type Im.
SY DK1 deficiency.
SY Dolichol kinase deficiency.
DR MIM; 610768; phenotype.
DR MedGen; C1835849.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 1N.
AC DI-00346
AR CDG1N.
DE A form of congenital disorder of glycosylation, a multisystem disorder
DE caused by a defect in glycoprotein biosynthesis and characterized by
DE under-glycosylated serum glycoproteins. Congenital disorders of
DE glycosylation result in a wide variety of clinical features, such as
DE defects in the nervous system development, psychomotor retardation,
DE dysmorphic features, hypotonia, coagulation disorders, and
DE immunodeficiency. The broad spectrum of features reflects the critical
DE role of N-glycoproteins during embryonic development, differentiation,
DE and maintenance of cell functions.
SY CDGIn.
SY CDG In.
SY CDG-In.
SY Congenital disorder of glycosylation type In.
DR MIM; 612015; phenotype.
DR MedGen; C2677590.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 1P.
AC DI-02950
AR CDG1P.
DE A form of congenital disorder of glycosylation, a multisystem disorder
DE caused by a defect in glycoprotein biosynthesis and characterized by
DE under-glycosylated serum glycoproteins. Congenital disorders of
DE glycosylation result in a wide variety of clinical features, such as
DE defects in the nervous system development, psychomotor retardation,
DE dysmorphic features, hypotonia, coagulation disorders, and
DE immunodeficiency. The broad spectrum of features reflects the critical
DE role of N-glycoproteins during embryonic development, differentiation,
DE and maintenance of cell functions.
SY CDGIp.
SY CDG Ip.
SY CDG-Ip.
SY Congenital disorder of glycosylation type Ip.
DR MIM; 613661; phenotype.
DR MedGen; C3150913.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 1Q.
AC DI-02863
AR CDG1Q.
DE A form of congenital disorder of glycosylation, a multisystem disorder
DE caused by a defect in glycoprotein biosynthesis and characterized by
DE under-glycosylated serum glycoproteins. Congenital disorders of
DE glycosylation result in a wide variety of clinical features, such as
DE defects in the nervous system development, psychomotor retardation,
DE dysmorphic features, hypotonia, coagulation disorders, and
DE immunodeficiency. The broad spectrum of features reflects the critical
DE role of N-glycoproteins during embryonic development, differentiation,
DE and maintenance of cell functions.
SY CDGIq.
SY CDG Iq.
SY CDG-Iq.
SY Congenital disorder of glycosylation 1q.
SY Congenital disorder of glycosylation type Iq.
SY Ocular coloboma ichthyosis brain malformations and endocrine abnormalities.
DR MIM; 612379; phenotype.
DR MedGen; C3150191.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 1R.
AC DI-03397
AR CDG1R.
DE A form of congenital disorder of glycosylation, a multisystem disorder
DE caused by a defect in glycoprotein biosynthesis and characterized by
DE under-glycosylated serum glycoproteins. Congenital disorders of
DE glycosylation result in a wide variety of clinical features, such as
DE defects in the nervous system development, psychomotor retardation,
DE dysmorphic features, hypotonia, coagulation disorders, and
DE immunodeficiency. The broad spectrum of features reflects the critical
DE role of N-glycoproteins during embryonic development, differentiation,
DE and maintenance of cell functions.
SY CDGIr.
SY CDG Ir.
SY CDG-Ir.
SY Congenital disorder of glycosylation 1r.
SY Congenital disorder of glycosylation type Ir.
DR MIM; 614507; phenotype.
DR MedGen; C3281084.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 1T.
AC DI-03611
AR CDG1T.
DE A form of congenital disorder of glycosylation, a multisystem disorder
DE caused by a defect in glycoprotein biosynthesis and characterized by
DE under-glycosylated serum glycoproteins. Congenital disorders of
DE glycosylation result in a wide variety of clinical features, such as
DE defects in the nervous system development, psychomotor retardation,
DE dysmorphic features, hypotonia, coagulation disorders, and
DE immunodeficiency. The broad spectrum of features reflects the critical
DE role of N-glycoproteins during embryonic development, differentiation,
DE and maintenance of cell functions.
SY CDGIt.
SY CDG It.
SY CDG-It.
SY Congenital disorder of glycosylation type It.
SY Glycogen storage disease XIV.
SY GSD14.
SY GSD XIV.
SY PGM1 deficiency.
SY Phosphoglucomutase 1 deficiency.
DR MIM; 614921; phenotype.
DR MedGen; C3554056.
DR MedGen; CN160489.
DR MeSH; D006008.
DR MeSH; D018981.
KW KW-0322:Glycogen storage disease.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 1U.
AC DI-03685
AR CDG1U.
DE A form of congenital disorder of glycosylation, a multisystem disorder
DE caused by a defect in glycoprotein biosynthesis and characterized by
DE under-glycosylated serum glycoproteins. Congenital disorders of
DE glycosylation result in a wide variety of clinical features, such as
DE defects in the nervous system development, psychomotor retardation,
DE dysmorphic features, hypotonia, coagulation disorders, and
DE immunodeficiency. The broad spectrum of features reflects the critical
DE role of N-glycoproteins during embryonic development, differentiation,
DE and maintenance of cell functions. Some CDG1U patients have dystrophic
DE changes seen on muscle biopsy and reduced O-mannosyl glycans on alpha-
DE dystroglycan.
SY CDGIu.
SY CDG Iu.
SY CDG-Iu.
SY Congenital disorder of glycosylation type Iu.
DR MIM; 615042; phenotype.
DR MedGen; C3554385.
DR MedGen; CN164727.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
KW KW-0912:Congenital muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Congenital disorder of glycosylation 1W.
AC DI-04006
AR CDG1W.
DE A form of congenital disorder of glycosylation, a multisystem disorder
DE caused by a defect in glycoprotein biosynthesis and characterized by
DE under-glycosylated serum glycoproteins. Congenital disorders of
DE glycosylation result in a wide variety of clinical features, such as
DE defects in the nervous system development, psychomotor retardation,
DE dysmorphic features, hypotonia, coagulation disorders, and
DE immunodeficiency. The broad spectrum of features reflects the critical
DE role of N-glycoproteins during embryonic development, differentiation,
DE and maintenance of cell functions.
SY CDGIw.
SY CDG Iw.
SY CDG-Iw.
SY Congenital disorder of glycosylation type Iw.
DR MIM; 615596; phenotype.
DR MedGen; C3810062.
DR MedGen; CN183093.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 1W, autosomal dominant.
AC DI-06319
AR CDG1WAD.
DE A form of congenital disorder of glycosylation, a multisystem disorder
DE caused by a defect in glycoprotein biosynthesis and characterized by
DE under-glycosylated serum glycoproteins. Congenital disorders of
DE glycosylation result in a wide variety of clinical features, such as
DE defects in the nervous system development, psychomotor retardation,
DE dysmorphic features, hypotonia, coagulation disorders, and
DE immunodeficiency. The broad spectrum of features reflects the critical
DE role of N-glycoproteins during embryonic development, differentiation,
DE and maintenance of cell functions. CDG1WAD patients show variable
DE skeletal anomalies, short stature, macrocephaly, and dysmorphic
DE features. Some have impaired intellectual development. Additional
DE features include increased muscle tone and muscle cramps.
SY Congenital disorder of glycosylation, type Iw, autosomal dominant.
DR MIM; 619714; phenotype.
DR MedGen; CN306031.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 1X.
AC DI-04007
AR CDG1X.
DE A form of congenital disorder of glycosylation, a multisystem disorder
DE caused by a defect in glycoprotein biosynthesis and characterized by
DE under-glycosylated serum glycoproteins. Congenital disorders of
DE glycosylation result in a wide variety of clinical features, such as
DE defects in the nervous system development, psychomotor retardation,
DE dysmorphic features, hypotonia, coagulation disorders, and
DE immunodeficiency. The broad spectrum of features reflects the critical
DE role of N-glycoproteins during embryonic development, differentiation,
DE and maintenance of cell functions.
SY CDGIx.
SY CDG Ix.
SY CDG-Ix.
SY Congenital disorder of glycosylation type Ix.
DR MIM; 615597; phenotype.
DR MedGen; C3810067.
DR MedGen; CN183730.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 1Y.
AC DI-04259
AR CDG1Y.
DE A form of congenital disorder of glycosylation, a multisystem disorder
DE caused by a defect in glycoprotein biosynthesis and characterized by
DE under-glycosylated serum glycoproteins. Congenital disorders of
DE glycosylation result in a wide variety of clinical features, such as
DE defects in the nervous system development, psychomotor retardation,
DE dysmorphic features, hypotonia, coagulation disorders, and
DE immunodeficiency. The broad spectrum of features reflects the critical
DE role of N-glycoproteins during embryonic development, differentiation,
DE and maintenance of cell functions.
SY CDGIy.
SY CDG Iy.
SY CDG-Iy.
SY Congenital disorder of glycosylation type Iy.
DR MIM; 300934; phenotype.
DR MedGen; CN221287.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 2A.
AC DI-00347
AR CDG2A.
DE A multisystem disorder caused by a defect in glycoprotein biosynthesis
DE and characterized by under-glycosylated serum glycoproteins.
DE Congenital disorders of glycosylation result in a wide variety of
DE clinical features, such as defects in the nervous system development,
DE psychomotor retardation, dysmorphic features, hypotonia, coagulation
DE disorders, and immunodeficiency. The broad spectrum of features
DE reflects the critical role of N-glycoproteins during embryonic
DE development, differentiation, and maintenance of cell functions.
SY Carbohydrate-deficient glycoprotein syndrome type II.
SY CDGIIa.
SY CDG IIa.
SY CDG-IIa.
SY CDGS type II.
SY Congenital disorder of glycosylation type IIa.
DR MIM; 212066; phenotype.
DR MedGen; C0349654.
DR MedGen; C2931008.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 2C.
AC DI-00348
AR CDG2C.
DE A multisystem disorder caused by a defect in glycoprotein biosynthesis
DE and characterized by under-glycosylated serum glycoproteins.
DE Congenital disorders of glycosylation result in a wide variety of
DE clinical features, such as defects in the nervous system development,
DE psychomotor retardation, dysmorphic features, hypotonia, coagulation
DE disorders, and immunodeficiency. The broad spectrum of features
DE reflects the critical role of N-glycoproteins during embryonic
DE development, differentiation, and maintenance of cell functions. The
DE clinical features of CDG2C include intellectual disability, short
DE stature, facial stigmata, and recurrent bacterial peripheral
DE infections with persistently elevated peripheral leukocytes.
DE Biochemically, CDG2C is characterized by a lack of fucosylated
DE glycoconjugates, including selectin ligands.
SY CDGIIc.
SY CDG IIc.
SY CDG-IIc.
SY Congenital disorder of glycosylation type IIc.
SY LAD2.
SY Leukocyte adhesion deficiency type II.
DR MIM; 266265; phenotype.
DR MedGen; C0398739.
DR MedGen; C0796132.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 2D.
AC DI-00349
AR CDG2D.
DE A multisystem disorder caused by a defect in glycoprotein biosynthesis
DE and characterized by under-glycosylated serum glycoproteins.
DE Congenital disorders of glycosylation result in a wide variety of
DE clinical features, such as defects in the nervous system development,
DE psychomotor retardation, dysmorphic features, hypotonia, coagulation
DE disorders, and immunodeficiency. The broad spectrum of features
DE reflects the critical role of N-glycoproteins during embryonic
DE development, differentiation, and maintenance of cell functions.
SY CDGIId.
SY CDG IId.
SY CDG-IId.
SY Congenital disorder of glycosylation type IId.
DR MIM; 607091; phenotype.
DR MedGen; C1846816.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 2E.
AC DI-00350
AR CDG2E.
DE A multisystem disorder caused by a defect in glycoprotein biosynthesis
DE and characterized by under-glycosylated serum glycoproteins.
DE Congenital disorders of glycosylation result in a wide variety of
DE clinical features, such as defects in the nervous system development,
DE psychomotor retardation, dysmorphic features, hypotonia, coagulation
DE disorders, and immunodeficiency. The broad spectrum of features
DE reflects the critical role of N-glycoproteins during embryonic
DE development, differentiation, and maintenance of cell functions.
SY CDGIIe.
SY CDG IIe.
SY CDG-IIe.
SY Congenital disorder of glycosylation type IIe.
DR MIM; 608779; phenotype.
DR MedGen; C1837437.
DR MedGen; C2931010.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 2F.
AC DI-01398
AR CDG2F.
DE CDGs are a family of severe inherited diseases caused by a defect in
DE protein N-glycosylation. They are characterized by under-glycosylated
DE serum proteins. These multisystem disorders present with a wide
DE variety of clinical features, such as disorders of the nervous system
DE development, psychomotor retardation, dysmorphic features, hypotonia,
DE coagulation disorders, and immunodeficiency. The broad spectrum of
DE features reflects the critical role of N-glycoproteins during
DE embryonic development, differentiation, and maintenance of cell
DE functions.
SY CDGIIf.
SY CDG IIf.
SY CDG-IIf.
SY Congenital disorder of glycosylation type IIf.
DR MIM; 603585; phenotype.
DR MedGen; C1970344.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 2G.
AC DI-00351
AR CDG2G.
DE A multisystem disorder caused by a defect in glycoprotein biosynthesis
DE and characterized by under-glycosylated serum glycoproteins.
DE Congenital disorders of glycosylation result in a wide variety of
DE clinical features, such as defects in the nervous system development,
DE psychomotor retardation, dysmorphic features, hypotonia, coagulation
DE disorders, and immunodeficiency. The broad spectrum of features
DE reflects the critical role of N-glycoproteins during embryonic
DE development, differentiation, and maintenance of cell functions.
DE Clinical features of CDG2G include failure to thrive, generalized
DE hypotonia, growth retardation and mild psychomotor retardation. CDG2G
DE is biochemically characterized by a defect in O-glycosylation as well
DE as N-glycosylation.
SY CDG-II caused by Cog1 deficiency.
SY CDGIIg.
SY CDG IIg.
SY CDG-IIg.
SY Congenital disorder of glycosylation type IIg.
DR MIM; 611209; phenotype.
DR MedGen; C1970016.
DR MedGen; C2931011.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 2H.
AC DI-01399
AR CDG2H.
DE CDGs are a family of severe inherited diseases caused by a defect in
DE protein N-glycosylation. They are characterized by under-glycosylated
DE serum proteins. These multisystem disorders present with a wide
DE variety of clinical features, such as disorders of the nervous system
DE development, psychomotor retardation, dysmorphic features, hypotonia,
DE coagulation disorders, and immunodeficiency. The broad spectrum of
DE features reflects the critical role of N-glycoproteins during
DE embryonic development, differentiation, and maintenance of cell
DE functions.
SY CDGIIh.
SY CDG IIh.
SY CDG-IIh.
SY Congenital disorder of glycosylation type IIh.
DR MIM; 611182; phenotype.
DR MedGen; C1970021.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 2I.
AC DI-02912
AR CDG2I.
DE A multisystem disorder caused by a defect in glycoprotein biosynthesis
DE and characterized by under-glycosylated serum glycoproteins.
DE Congenital disorders of glycosylation result in a wide variety of
DE clinical features, such as defects in the nervous system development,
DE psychomotor retardation, dysmorphic features, hypotonia, coagulation
DE disorders, and immunodeficiency. The broad spectrum of features
DE reflects the critical role of N-glycoproteins during embryonic
DE development, differentiation, and maintenance of cell functions.
DE Congenital disorder of glycosylation type 2I is characterized by mild
DE neurological impairments.
SY CDGIIi.
SY CDG IIi.
SY CDG-IIi.
SY Congenital disorder of glycosylation type IIi.
DR MIM; 613612; phenotype.
DR MedGen; C3150876.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 2J.
AC DI-02772
AR CDG2J.
DE A multisystem disorder caused by a defect in glycoprotein biosynthesis
DE and characterized by under-glycosylated serum glycoproteins.
DE Congenital disorders of glycosylation result in a wide variety of
DE clinical features, such as defects in the nervous system development,
DE psychomotor retardation, dysmorphic features, hypotonia, coagulation
DE disorders, and immunodeficiency. The broad spectrum of features
DE reflects the critical role of N-glycoproteins during embryonic
DE development, differentiation, and maintenance of cell functions.
SY CDGIIj.
SY CDG IIj.
SY CDG-IIj.
SY Congenital disorder of glycosylation type IIj.
DR MIM; 613489; phenotype.
DR MedGen; C3150736.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 2K.
AC DI-03483
AR CDG2K.
DE An autosomal recessive disorder with a variable phenotype. Affected
DE individuals show psychomotor retardation and growth retardation, and
DE most have short stature. Other features include dysmorphism,
DE hypotonia, eye abnormalities, acquired microcephaly, hepatomegaly, and
DE skeletal dysplasia. Congenital disorders of glycosylation are caused
DE by a defect in glycoprotein biosynthesis and characterized by under-
DE glycosylated serum glycoproteins and a wide variety of clinical
DE features. The broad spectrum of features reflects the critical role of
DE N-glycoproteins during embryonic development, differentiation, and
DE maintenance of cell functions.
SY CDGIIk.
SY CDG IIk.
SY CDG-IIk.
SY Congenital disorder of glycosylation type IIk.
DR MIM; 614727; phenotype.
DR MedGen; C3553571.
DR MedGen; CN130470.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 2L.
AC DI-03458
AR CDG2L.
DE A multisystem disorder caused by a defect in glycoprotein biosynthesis
DE and characterized by under-glycosylated serum glycoproteins.
DE Congenital disorders of glycosylation result in a wide variety of
DE clinical features, such as defects in the nervous system development,
DE psychomotor retardation, dysmorphic features, hypotonia, coagulation
DE disorders, and immunodeficiency. The broad spectrum of features
DE reflects the critical role of N-glycoproteins during embryonic
DE development, differentiation, and maintenance of cell functions.
DE Clinical features of CDG2L include neonatal intractable focal
DE seizures, vomiting, loss of consciousness, intracranial bleeding due
DE to vitamin K deficiency, and death in infancy.
SY CDGIIl.
SY CDG IIl.
SY CDG-IIl.
SY Congenital disorder of glycosylation type IIl.
DR MIM; 614576; phenotype.
DR MedGen; C3553230.
DR MedGen; CN124732.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 2M.
AC DI-03722
AR CDG2M.
DE An X-linked dominant, severe neurologic disorder characterized by
DE developmental delay, hypotonia, ocular anomalies, and brain
DE malformations. Othere more variable clinical features included
DE seizures, hypsarrhythmia, poor feeding, microcephaly, recurrent
DE infections, dysmorphic features, shortened limbs, and coagulation
DE defects. Congenital disorders of glycosylation are caused by a defect
DE in glycoprotein biosynthesis and characterized by under-glycosylated
DE serum glycoproteins and a wide variety of clinical features. The broad
DE spectrum of features reflects the critical role of N-glycoproteins
DE during embryonic development, differentiation, and maintenance of cell
DE functions.
SY CDGIIm.
SY CDG IIm.
SY CDG-IIm.
SY Congenital disorder of glycosylation type IIm.
SY Congenital disorder of glycosylation X-linked.
SY DEE22.
SY Developmental and epileptic encephalopathy 22.
SY EIEE22.
SY Epileptic encephalopathy, early infantile, 22.
DR MIM; 300896; phenotype.
DR MedGen; C3806688.
DR MedGen; CN169673.
DR MeSH; D013036.
DR MeSH; D018981.
KW KW-0887:Epilepsy.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 2N.
AC DI-04605
AR CDG2N.
DE A form of congenital disorder of glycosylation, a genetically
DE heterogeneous group of autosomal recessive, multisystem disorders
DE caused by a defect in glycoprotein biosynthesis and characterized by
DE under-glycosylated serum glycoproteins. Congenital disorders of
DE glycosylation result in a wide variety of clinical features, such as
DE defects in the nervous system development, psychomotor retardation,
DE dysmorphic features, hypotonia, coagulation disorders, and
DE immunodeficiency. The broad spectrum of features reflects the critical
DE role of N-glycoproteins during embryonic development, differentiation,
DE and maintenance of cell functions.
SY CDGIIn.
SY CDG IIn.
SY CDG-IIn.
SY Congenital disorder of glycosylation, type IIn.
DR MIM; 616721; phenotype.
DR MedGen; CN234667.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 2O.
AC DI-04626
AR CDG2O.
DE A form of congenital disorder of glycosylation, a genetically
DE heterogeneous group of autosomal recessive, multisystem disorders
DE caused by a defect in glycoprotein biosynthesis and characterized by
DE under-glycosylated serum glycoproteins. Congenital disorders of
DE glycosylation result in a wide variety of clinical features, such as
DE defects in the nervous system development, psychomotor retardation,
DE dysmorphic features, hypotonia, coagulation disorders, and
DE immunodeficiency. The broad spectrum of features reflects the critical
DE role of N-glycoproteins during embryonic development, differentiation,
DE and maintenance of cell functions. CDG2O is characterized by
DE hepatosplenomegaly, liver failure, hypotonia, and psychomotor
DE disability.
SY CDGIIo.
SY CDG IIo.
SY CDG-IIo.
SY Congenital disorder of glycosylation, type IIo.
DR MIM; 616828; phenotype.
DR MedGen; CN235345.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 2P.
AC DI-04627
AR CDG2P.
DE A form of congenital disorder of glycosylation, a genetically
DE heterogeneous group of autosomal recessive, multisystem disorders
DE caused by a defect in glycoprotein biosynthesis and characterized by
DE under-glycosylated serum glycoproteins. Congenital disorders of
DE glycosylation result in a wide variety of clinical features, such as
DE defects in the nervous system development, psychomotor retardation,
DE dysmorphic features, hypotonia, coagulation disorders, and
DE immunodeficiency. The broad spectrum of features reflects the critical
DE role of N-glycoproteins during embryonic development, differentiation,
DE and maintenance of cell functions. CDG2P is characterized by mild
DE metabolic dysfunction, primarily affecting the liver. Psychomotor
DE development is normal.
SY CDGIIp.
SY CDG IIp.
SY CDG-IIp.
SY Congenital disorder of glycosylation, type IIp.
DR MIM; 616829; phenotype.
DR MedGen; CN235367.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 2Q.
AC DI-04971
AR CDG2Q.
DE A form of congenital disorder of glycosylation, a genetically
DE heterogeneous group of autosomal recessive, multisystem disorders
DE caused by a defect in glycoprotein biosynthesis and characterized by
DE under-glycosylated serum glycoproteins. Congenital disorders of
DE glycosylation result in a wide variety of clinical features, such as
DE defects in the nervous system development, psychomotor retardation,
DE dysmorphic features, hypotonia, coagulation disorders, and
DE immunodeficiency. The broad spectrum of features reflects the critical
DE role of N-glycoproteins during embryonic development, differentiation,
DE and maintenance of cell functions. The transmission pattern of CDG2Q
DE is consistent with autosomal recessive inheritance.
SY CDGIIq.
SY CDG IIq.
SY CDG-IIq.
SY Congenital disorder of glycosylation, type IIq.
DR MIM; 617395; phenotype.
DR MedGen; CN241831.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 2R.
AC DI-05804
AR CDG2R.
DE A form of congenital disorder of glycosylation, a genetically
DE heterogeneous group of multisystem disorders caused by a defect in
DE glycoprotein biosynthesis and characterized by under-glycosylated
DE serum glycoproteins. Congenital disorders of glycosylation result in a
DE wide variety of clinical features, such as defects in the nervous
DE system development, psychomotor retardation, dysmorphic features,
DE hypotonia, coagulation disorders, and immunodeficiency. The broad
DE spectrum of features reflects the critical role of N-glycoproteins
DE during embryonic development, differentiation, and maintenance of cell
DE functions. CDG2R is an X-linked recessive disorder characterized by
DE infantile onset of liver failure, recurrent infections due to
DE hypogammaglobulinemia, and cutis laxa. Some patients may also have
DE mild intellectual impairment and dysmorphic features.
SY Congenital disorder of glycosylation, type IIr.
DR MIM; 301045; phenotype.
DR MedGen; CN280849.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 2T.
AC DI-05843
AR CDG2T.
DE A form of congenital disorder of glycosylation, a genetically
DE heterogeneous group of multisystem disorders caused by a defect in
DE glycoprotein biosynthesis and characterized by under-glycosylated
DE serum glycoproteins. Congenital disorders of glycosylation result in a
DE wide variety of clinical features, such as defects in the nervous
DE system development, psychomotor retardation, dysmorphic features,
DE hypotonia, coagulation disorders, and immunodeficiency. The broad
DE spectrum of features reflects the critical role of N-glycoproteins
DE during embryonic development, differentiation, and maintenance of cell
DE functions. CDG2T is an autosomal recessive form characterized by
DE global developmental delay, intellectual disability with language
DE deficit, autistic features, behavioral abnormalities, epilepsy,
DE chronic insomnia, white matter changes on brain imaging, dysmorphic
DE features, decreased stature, and decreased high density lipoprotein
DE cholesterol levels.
SY CDGIIt.
SY CDG IIt.
SY Congenital disorder of glycosylation, type IIt.
DR MIM; 618885; phenotype.
DR MedGen; CN280941.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 2V.
AC DI-06213
AR CDG2V.
DE A form of congenital disorder of glycosylation, a genetically
DE heterogeneous group of multisystem disorders caused by a defect in
DE glycoprotein biosynthesis and characterized by under-glycosylated
DE serum glycoproteins. Congenital disorders of glycosylation result in a
DE wide variety of clinical features, such as defects in the nervous
DE system development, psychomotor retardation, dysmorphic features,
DE hypotonia, coagulation disorders, and immunodeficiency. The broad
DE spectrum of features reflects the critical role of N-glycoproteins
DE during embryonic development, differentiation, and maintenance of cell
DE functions. CDG2V is an autosomal recessive form characterized by
DE neurodevelopmental delay and variable facial dysmorphic features.
SY Congenital disorder of glycosylation, type 2V.
DR MIM; 619493; phenotype.
DR MedGen; CN300357.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation 2W.
AC DI-06226
AR CDG2W.
DE A form of congenital disorder of glycosylation, a genetically
DE heterogeneous group of multisystem disorders caused by a defect in
DE glycoprotein biosynthesis and characterized by under-glycosylated
DE serum glycoproteins. Congenital disorders of glycosylation result in a
DE wide variety of clinical features, such as defects in the nervous
DE system development, psychomotor retardation, dysmorphic features,
DE hypotonia, coagulation disorders, and immunodeficiency. The broad
DE spectrum of features reflects the critical role of N-glycoproteins
DE during embryonic development, differentiation, and maintenance of cell
DE functions. CDG2W is an autosomal dominant disorder characterized by
DE liver dysfunction and coagulation deficiencies.
SY Congenital disorder of glycosylation, type IIw.
DR MIM; 619525; phenotype.
DR MedGen; CN300449.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation with defective fucosylation 1.
AC DI-05266
AR CDGF1.
DE A form of congenital disorder of glycosylation, a genetically
DE heterogeneous group of multisystem disorders caused by a defect in
DE glycoprotein biosynthesis and characterized by under-glycosylated
DE serum glycoproteins. Congenital disorders of glycosylation result in a
DE wide variety of clinical features, such as defects in the nervous
DE system development, psychomotor retardation, dysmorphic features,
DE hypotonia, coagulation disorders, and immunodeficiency. The broad
DE spectrum of features reflects the critical role of N-glycoproteins
DE during embryonic development, differentiation, and maintenance of cell
DE functions. CDGF1 is an autosomal recessive disorder, apparent from
DE birth, characterized by poor growth, failure to thrive, hypotonia,
DE skeletal anomalies, and delayed psychomotor development with
DE intellectual disability.
DR MIM; 618005; phenotype.
DR MedGen; CN258220.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital disorder of glycosylation with defective fucosylation 2.
AC DI-05480
AR CDGF2.
DE A form of congenital disorder of glycosylation, a genetically
DE heterogeneous group of multisystem disorders caused by a defect in
DE glycoprotein biosynthesis and characterized by under-glycosylated
DE serum glycoproteins. Congenital disorders of glycosylation result in a
DE wide variety of clinical features, such as defects in the nervous
DE system development, psychomotor retardation, dysmorphic features,
DE hypotonia, coagulation disorders, and immunodeficiency. CDGF2 is an
DE autosomal recessive disorder, apparent from birth, characterized by
DE hypotonia, poor feeding, severely impaired intellectual and
DE psychomotor development, seizures with epileptic encephalopathy,
DE visual impairment and other ocular features, respiratory difficulty
DE with frequent infections, as well as contractures. Brain imaging shows
DE cerebellar and brainstem atrophy, hypoplasia or agenesis of the corpus
DE callosum, and white matter abnormalities including periventricular
DE leukomalacia.
DR MIM; 618324; phenotype.
DR MedGen; CN258212.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Congenital erythropoietic porphyria.
AC DI-01401
AR CEP.
DE Porphyrias are inherited defects in the biosynthesis of heme,
DE resulting in the accumulation and increased excretion of porphyrins or
DE porphyrin precursors. They are classified as erythropoietic or
DE hepatic, depending on whether the enzyme deficiency occurs in red
DE blood cells or in the liver. The manifestations of CEP are
DE heterogeneous, ranging from nonimmune hydrops fetalis due to severe
DE hemolytic anemia in utero to milder, later onset forms, which have
DE only skin lesions due to cutaneous photosensitivity in adult life. The
DE deficiency in UROS activity results in the non-enzymatic conversion of
DE hydroxymethylbilane (HMB) into the uroporphyrinogen-I isomer.
SY Gunther disease.
DR MIM; 263700; phenotype.
DR MedGen; C0162530.
DR MedGen; C2718078.
//
ID Congenital generalized lipodystrophy 1.
AC DI-00354
AR CGL1.
DE An autosomal recessive disorder characterized by a near complete
DE absence of adipose tissue, extreme insulin resistance,
DE hypertriglyceridemia, hepatic steatosis and early onset of diabetes.
SY Berardinelli-Seip congenital lipodystrophy type 1.
SY Berardinelli-Seip syndrome.
SY Brunzell syndrome AGPAT2-related.
SY BSCL1.
SY Lipoatrophic diabetes.
SY Lipodystrophy Berardinelli type.
SY Total lipodystrophy and acromegaloid gigantism.
DR MIM; 608594; phenotype.
DR MedGen; C1720862.
DR MeSH; D052497.
KW KW-0219:Diabetes mellitus.
KW KW-1022:Congenital generalized lipodystrophy.
//
ID Congenital generalized lipodystrophy 2.
AC DI-00355
AR CGL2.
DE An autosomal recessive disorder characterized by a near complete
DE absence of adipose tissue, extreme insulin resistance,
DE hypertriglyceridemia, hepatic steatosis and early onset of diabetes.
SY Berardinelli-Seip congenital lipodystrophy type 2.
SY Berardinelli-Seip syndrome.
SY Brunzell syndrome BSCL2-related.
SY Lipoatrophic diabetes.
SY Lipodystrophy Berardinelli type.
SY Total lipodystrophy and acromegaloid gigantism.
DR MIM; 269700; phenotype.
DR MedGen; C1720863.
DR MeSH; D052497.
KW KW-0219:Diabetes mellitus.
KW KW-1022:Congenital generalized lipodystrophy.
//
ID Congenital generalized lipodystrophy 3.
AC DI-00356
AR CGL3.
DE An autosomal recessive disorder characterized by a near complete
DE absence of adipose tissue, extreme insulin resistance,
DE hypertriglyceridemia, hepatic steatosis and early onset of diabetes.
SY Berardinelli-Seip congenital lipodystrophy type 3.
SY BSCL3.
DR MIM; 612526; phenotype.
DR MedGen; C2675861.
DR MeSH; D052497.
KW KW-0219:Diabetes mellitus.
KW KW-1022:Congenital generalized lipodystrophy.
//
ID Congenital generalized lipodystrophy 4.
AC DI-02767
AR CGL4.
DE A disorder characterized by the association of congenital generalized
DE lipodystrophy with muscular dystrophy and cardiac anomalies.
DE Congenital generalized lipodystrophy is characterized by a near
DE complete absence of adipose tissue, extreme insulin resistance,
DE hypertriglyceridemia, hepatic steatosis and early onset of diabetes.
SY Berardinelli-Seip congenital lipodystrophy type 4.
SY Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy.
DR MIM; 613327; phenotype.
DR MedGen; C2750069.
DR MeSH; D052497.
KW KW-0219:Diabetes mellitus.
KW KW-1022:Congenital generalized lipodystrophy.
//
ID Congenital glucose/galactose malabsorption.
AC DI-01402
AR GGM.
DE Intestinal monosaccharide transporter deficiency. It is an autosomal
DE recessive disorder manifesting itself within the first weeks of life.
DE It is characterized by severe diarrhea and dehydration which are
DE usually fatal unless glucose and galactose are eliminated from the
DE diet.
DR MIM; 606824; phenotype.
DR MedGen; C0268186.
//
ID Congenital heart defects and ectodermal dysplasia.
AC DI-04953
AR CHDED.
DE An autosomal dominant syndrome characterized by atrial and/or
DE ventricular septal congenital heart defects and variable features of
DE ectodermal dysplasia, including sparse hair, dry skin, thin skin,
DE fragile nails, premature loss of primary teeth, and small widely
DE spaced teeth. Patients manifest developmental disabilities ranging
DE from motor delay and delayed speech to global developmental
DE retardation.
DR MIM; 617364; phenotype.
DR MedGen; CN240689.
DR MeSH; D004476.
DR MeSH; D006330.
KW KW-0038:Ectodermal dysplasia.
//
ID Congenital heart defects and skeletal malformations syndrome.
AC DI-05064
AR CHDSKM.
DE An autosomal dominant disorder characterized by congenital heart
DE disease with atrial and ventricular septal defects, variable skeletal
DE abnormalities, and failure to thrive. Skeletal defects include pectus
DE excavatum, scoliosis, and finger contractures. Some patient exhibit
DE joint laxity.
DR MIM; 617602; phenotype.
DR MedGen; CN368510.
DR MeSH; D001848.
DR MeSH; D006330.
//
ID Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder.
AC DI-04952
AR CHDFIDD.
DE An autosomal dominant syndrome characterized by atrial and/or
DE ventricular septal congenital heart defects, facial dysmorphism with
DE hypertelorism, upslanted palpebral fissures, epicanthal folds, ptosis,
DE strabismus, posteriorly rotated ears, thin upper lip, and small mouth.
DE Patients manifest global developmental delay, delayed walking and
DE speech acquisition, and intellectual disability. Some patients have
DE mild microcephaly, a small cerebral cortex, and agenesis of corpus
DE callosum. More variable features include clinodactyly and/or
DE camptodactyly of the fingers, hypotonia, and joint hypermobility.
DR MIM; 617360; phenotype.
DR MedGen; CN240690.
DR MeSH; D006330.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Congenital heart defects, hamartomas of tongue, and polysyndactyly.
AC DI-04320
AR CHDTHP.
DE A disease characterized by a constellation of anomalies including
DE tongue hamartomas, polysyndactyly, and congenital heart defects such
DE as atrioventricular canal and coarctation of the aorta.
DR MIM; 217085; phenotype.
DR MedGen; C1857587.
DR MeSH; D006222.
DR MeSH; D006330.
DR MeSH; D013576.
//
ID Congenital heart defects, multiple types, 1, X-linked.
AC DI-03598
AR CHTD1.
DE A disorder characterized by congenital developmental abnormalities
DE involving structures of the heart. Common defects include
DE transposition of the great arteries, aortic stenosis, atrial septal
DE defect, ventricular septal defect, pulmonic stenosis, and patent
DE ductus arteriosus. The etiology of CHTD is complex, with contributions
DE from environmental exposure, chromosomal abnormalities, and gene
DE defects. Some patients with CHTD also have cardiac arrhythmias, which
DE may be due to the anatomic defect itself or to surgical interventions.
SY X-linked congenital heart defects nonsyndromic 1.
SY X-linked congenital heart disease nonsyndromic 1.
DR MIM; 306955; phenotype.
DR MedGen; C3151867.
DR MeSH; D006330.
//
ID Congenital heart defects, multiple types, 2.
AC DI-02853
AR CHTD2.
DE A disease characterized by congenital developmental abnormalities
DE involving structures of the heart. CHTD2 patients have left
DE ventricular outflow tract obstruction, subaortic stenosis, residual
DE aortic regurgitation, atrial fibrillation, bicuspid aortic valve and
DE aortic dilation.
SY Congenital heart defects non-syndromic 2.
DR MIM; 614980; phenotype.
DR MedGen; C3150216.
DR MedGen; C3554279.
DR MeSH; D006330.
//
ID Congenital heart defects, multiple types, 4.
AC DI-04085
AR CHTD4.
DE A disorder characterized by congenital developmental abnormalities
DE involving structures of the heart. Common defects include
DE transposition of the great arteries, aortic stenosis, atrial septal
DE defect, ventricular septal defect, pulmonic stenosis, and patent
DE ductus arteriosus. Some patients also have cardiac arrhythmias, which
DE may be due to the anatomic defect itself or to surgical interventions.
DR MIM; 615779; phenotype.
DR MedGen; CN187046.
DR MeSH; D006330.
//
ID Congenital heart defects, multiple types, 5.
AC DI-05221
AR CHTD5.
DE A disorder characterized by congenital developmental abnormalities
DE involving structures of the heart. Common defects include
DE transposition of the great arteries, aortic stenosis, atrial septal
DE defect, ventricular septal defect, pulmonic stenosis, patent ductus
DE arteriosus, and tetralogy of Fallot. Some patients also have cardiac
DE arrhythmias, which may be due to the anatomic defect itself or to
DE surgical interventions. CHTD5 inheritance can be autosomal dominant or
DE recessive.
DR MIM; 617912; phenotype.
DR MedGen; CN873437.
DR MeSH; D006330.
//
ID Congenital heart defects, multiple types, 6.
AC DI-03082
AR CHTD6.
DE An autosomal dominant disorder characterized by congenital
DE developmental abnormalities involving structures of the heart. Common
DE defects include tetralogy of Fallot, transposition of the great
DE arteries, double-outlet right ventricle, total anomalous pulmonary
DE venous return, pulmonary stenosis or atresia, atrioventricular canal,
DE ventricular septal defect, and hypoplastic left or right ventricle.
SY DTGA3.
SY Transposition of the great arteries, dextro-looped 3.
DR MIM; 613854; phenotype.
DR MedGen; C3151221.
DR MeSH; D006330.
//
ID Congenital heart defects, multiple types, 7.
AC DI-05764
AR CHTD7.
DE An autosomal dominant disorder with incomplete penetrance
DE characterized by congenital developmental abnormalities involving
DE structures of the heart. Common defects include tetralogy of Fallot,
DE pulmonary stenosis or atresia, absent pulmonary valve, right aortic
DE arch, double aortic arch, and major aortopulmonary collateral
DE arteries.
DR MIM; 618780; phenotype.
DR MedGen; CN263280.
DR MeSH; D006330.
//
ID Congenital heart defects, multiple types, 8, with or without heterotaxy.
AC DI-06292
AR CHTD8.
DE An autosomal dominant disorder characterized by congenital
DE developmental abnormalities involving structures of the heart. Common
DE CHTD8 features include double-outlet right ventricle, unbalanced
DE complete atrioventricular canal, and valvular anomalies. Vascular
DE anomalies include dextroposition of the great arteries, anomalous
DE pulmonary venous return, and superior vena cava to left atrium defect.
DE Patients may also exhibit laterality defects, including dextrocardia,
DE atrial isomerism, dextrogastria, left-sided gallbladder, and
DE intestinal malrotation.
DR MIM; 619657; phenotype.
DR MedGen; CN305192.
DR MeSH; D006330.
KW KW-1056:Heterotaxy.
//
ID Congenital hemidysplasia with ichthyosiform erythroderma and limb defects.
AC DI-00357
AR CHILD.
DE An X-linked dominant disorder of lipid metabolism with disturbed
DE cholesterol biosynthesis, which typically results in male lethality.
DE Clinically, it is characterized by congenital, unilateral,
DE ichthyosisform erythroderma with striking lateralization, sharp
DE midline demarcation, and ipsilateral limb defects and hypoplasia of
DE the body. Limbs defects range from hypoplasia of digits or ribs to
DE complete amelia, often including scoliosis.
DR MIM; 308050; phenotype.
DR MedGen; C0265267.
DR MeSH; D008052.
DR MeSH; D016113.
DR MeSH; D017880.
KW KW-0977:Ichthyosis.
//
ID Congenital hypotonia, epilepsy, developmental delay, and digital anomalies.
AC DI-05610
AR CHEDDA.
DE An autosomal dominant neurodevelopmental syndrome characterized by
DE severe global developmental delay, impaired intellectual development,
DE poor or absent language, significant motor disability with inability
DE to walk, dysmorphic facial features, skeletal anomalies, and variable
DE congenital malformations. Most patients also have seizures and
DE structural brain abnormalities.
DR MIM; 618494; phenotype.
DR MedGen; CN260597.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Congenital insensitivity to pain with anhidrosis.
AC DI-01405
AR CIPA.
DE Characterized by a congenital insensitivity to pain, anhidrosis
DE (absence of sweating), absence of reaction to noxious stimuli, self-
DE mutilating behavior, and intellectual disability. This rare autosomal
DE recessive disorder is also known as congenital sensory neuropathy with
DE anhidrosis or hereditary sensory and autonomic neuropathy type IV or
DE familial dysautonomia type II.
SY Familial dysautonomia, type II.
SY Hereditary sensory and autonomic neuropathy IV.
SY HSAN4.
SY HSAN IV.
SY Neuropathy, congenital sensory, with anhidrosis.
DR MIM; 256800; phenotype.
DR MedGen; C0020074.
//
ID Congenital lactase deficiency.
AC DI-01406
AR COLACD.
DE Autosomal recessive, rare and severe gastrointestinal disorder. It is
DE characterized by watery diarrhea in infants fed with breast milk or
DE other lactose-containing formulas. An almost total lack of LCT
DE activity is found in jejunal biopsy material of patients with
DE congenital lactase deficiency. Opposite to congenital lactase
DE deficiency, also known as lactose intolerance, is the most common
DE enzyme deficiency worldwide. It is caused by developmental down-
DE regulation of lactase activity during childhood or early adulthood.
DE The decline of lactase activity is a normal physiological phenomenon;
DE however, the majority of Northern Europeans have the ability to
DE maintain lactase activity and digest lactose throughout life (lactase
DE persistence). The down-regulation of lactase activity operates at the
DE transcriptional level and it is associated with a noncoding variation
DE in the MCM6 gene, located in the upstream vicinity of LCT.
SY Disaccharide intolerance II.
SY Hereditary alactasia.
DR MIM; 223000; phenotype.
DR MedGen; C0268179.
//
ID Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi.
AC DI-03487
AR CLOVE.
DE A sporadically occurring, non-hereditary disorder characterized by
DE asymmetric somatic hypertrophy and anomalies in multiple organs. It is
DE defined by four main clinical findings: congenital lipomatous
DE overgrowth, vascular malformations, epidermal nevi, and
DE skeletal/spinal abnormalities. The presence of truncal overgrowth and
DE characteristic patterned macrodactyly at birth differentiates CLOVE
DE from other syndromic forms of overgrowth.
SY CLOVES syndrome.
SY CLOVE syndrome.
SY Congenital lipomatous overgrowth vascular malformations epidermal nevi and skeletal/spinal abnormalities.
DR MIM; 612918; phenotype.
DR MedGen; C2752042.
DR MeSH; D001165.
DR MeSH; D008067.
DR MeSH; D009506.
//
ID Congenital myopathy with excess of muscle spindles.
AC DI-01411
AR CMEMS.
DE Variant of Costello syndrome.
DR MIM; 218040; phenotype.
DR MedGen; C1968782.
//
ID Congenital short bowel syndrome.
AC DI-03743
AR CSBS.
DE A disease characterized by a shortened small intestine, intestinal
DE malrotation, and malabsorption. The mean length of the small intestine
DE in CSBS patients is approximately 50 cm, compared with a normal length
DE at birth of 190-280 cm. Patients with CSBS may develop severe
DE malnutrition as a result of the hugely reduced absorptive surface of
DE the small intestine. Infants require parenteral nutrition for
DE survival. However, parenteral nutrition itself causes life-threatening
DE complications such as sepsis and liver failure which are associated
DE with a high rate of mortality early in life.
SY Congenital short bowel and malrotation syndrome.
SY CSBM.
DR MIM; 615237; phenotype.
DR MedGen; C0021847.
DR MedGen; CN169861.
DR MeSH; D012778.
//
ID Congenital short bowel syndrome, X-linked.
AC DI-03734
AR CSBSX.
DE A disease characterized by a shortened small intestine, and
DE malabsorption. The mean length of the small intestine in affected
DE individuals is approximately 50 cm, compared with a normal length at
DE birth of 190-280 cm. It is associated with significant mortality and
DE morbidity. Infants usually present with failure to thrive, recurrent
DE vomiting, and diarrhea.
DR MIM; 300048; phenotype.
DR MedGen; CN177834.
DR MeSH; D012778.
//
ID Congenital sucrase-isomaltase deficiency.
AC DI-01419
AR CSID.
DE Autosomal recessive intestinal disorder that is clinically
DE characterized by fermentative diarrhea, abdominal pain, and cramps
DE upon ingestion of sugar. The symptoms are the consequence of absent or
DE drastically reduced enzymatic activities of sucrase and isomaltase.
DE The prevalence of CSID is 0.02 % in individuals of European descent
DE and appears to be much higher in Greenland, Alaskan, and Canadian
DE native people. CSID arises due to post-translational perturbations in
DE the intracellular transport, polarized sorting, aberrant processing,
DE and defective function of SI.
SY Disaccharide intolerance I.
DR MIM; 222900; phenotype.
DR MedGen; C1283620.
//
ID Congenital systemic glutamine deficiency.
AC DI-01420
AR CSGD.
DE Rare developmental disorder with severe brain malformation resulting
DE in multi-organ failure and neonatal death. Glutamine is largely absent
DE from affected patients serum, urine and cerebrospinal fluid.
SY Glutamine deficiency, congenital.
SY Glutamine synthase deficiency, congenital systemic.
DR MIM; 610015; phenotype.
DR MedGen; C1864910.
DR MeSH; D000592.
//
ID Conotruncal heart malformations.
AC DI-01424
AR CTHM.
DE A group of congenital heart defects involving the outflow tracts.
DE Examples include truncus arteriosus communis, double-outlet right
DE ventricle and transposition of great arteries. Truncus arteriosus
DE communis is characterized by a single outflow tract instead of a
DE separate aorta and pulmonary artery. In transposition of the great
DE arteries, the aorta arises from the right ventricle and the pulmonary
DE artery from the left ventricle. In double outlet of the right
DE ventricle, both the pulmonary artery and aorta arise from the right
DE ventricle.
SY CAFS.
SY Common arterial trunk.
SY Conotruncal anomaly face syndrome.
SY Conotruncal heart defects.
SY CTHD.
SY DORV.
SY Double-outlet right ventricle.
SY Persistent truncus arteriosus.
SY PTA.
SY TAC.
SY Truncus arteriosus communis.
DR MIM; 217095; phenotype.
DR MedGen; C0013069.
DR MedGen; C0041207.
DR MedGen; C0152419.
DR MedGen; C0795907.
DR MedGen; C1857586.
DR MeSH; D004310.
DR MeSH; D014339.
//
ID Contractural arachnodactyly, congenital.
AC DI-01397
AR CCA.
DE An autosomal dominant connective tissue disorder characterized by
DE contractures, arachnodactyly, scoliosis, and crumpled ears.
SY Arthrogryposis, distal, type 9.
SY Beals syndrome.
SY CCA.
SY Congenital contractural arachnodactyly.
SY DA9.
DR MIM; 121050; phenotype.
DR MedGen; C0220668.
DR MeSH; D001176.
//
ID Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A.
AC DI-05625
AR CPSFS1A.
DE An autosomal dominant disease characterized by contractures of
DE proximal and distal joints, pterygia involving the neck, axillae,
DE elbows, and/or knees, as well as variable vertebral, carpal, and
DE tarsal fusions and short stature. Progression of vertebral fusions has
DE been observed, and inter- and intrafamilial variability has been
DE reported.
SY Arthrogryposis, distal, type 8.
SY DA8.
SY Multiple pterygium syndrome, autosomal dominant.
SY Pterygium syndrome, multiple, autosomal dominant.
DR MIM; 178110; phenotype.
DR MedGen; C1867440.
DR MeSH; D001176.
//
ID Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B.
AC DI-05594
AR CPSFS1B.
DE An autosomal recessive disease characterized by contractures affecting
DE proximal and distal joints, vertebral fusions and scoliosis, carpal
DE and tarsal fusions as well as webbing of the skin (pterygium)
DE involving the neck, elbows, fingers, and/or knees. Other features
DE include facial dysmorphism, short neck, and absent finger flexion
DE creases. Inter- and intrafamilial variability has been observed.
DR MIM; 618469; phenotype.
DR MedGen; CN259076.
DR MeSH; D001176.
//
ID Convulsions, familial infantile, with paroxysmal choreoathetosis.
AC DI-03372
AR ICCA.
DE A syndrome characterized by clinical features of benign familial
DE infantile seizures and episodic kinesigenic dyskinesia. Benign
DE familial infantile seizures is a disorder characterized by afebrile
DE seizures occurring during the first year of life, without neurologic
DE sequelae. Paroxysmal choreoathetosis is a disorder of involuntary
DE movements characterized by attacks that occur spontaneously or are
DE induced by a variety of stimuli.
SY Familial infantile convulsions and paroxysmal choreoathetosis.
SY ICCA syndrome paroxysmal kinesigenic dyskinesia with infantile convulsions.
SY PKD/IC.
DR MIM; 602066; phenotype.
DR MedGen; C1865926.
DR MeSH; D020820.
DR MeSH; D020936.
KW KW-0887:Epilepsy.
//
ID Cornea plana 2, autosomal recessive.
AC DI-02364
AR CNA2.
DE A severe form of cornea plana, a rare ocular disorder characterized by
DE flattened corneal curvature leading to a decrease in refraction,
DE reduced visual activity, hyperopia, hazy corneal limbus, opacities in
DE the corneal parenchyma, and marked arcus senilis often detected at an
DE early age. CNA2 patients manifest extreme hyperopia and additional
DE ocular anomalies such as malformations of the iris, a slit-like pupil,
DE and adhesions between iris and cornea.
SY Cornea plana congenita, recessive.
DR MIM; 217300; phenotype.
DR MedGen; C1857574.
DR MeSH; D003316.
//
ID Corneal dystrophy and perceptive deafness.
AC DI-01426
AR CDPD.
DE An ocular disease characterized by the association of corneal clouding
DE with progressive perceptive hearing loss.
SY CDPD1.
SY Corneal dystrophy and sensorineural deafness.
SY Corneal endothelial dystrophy and perceptive deafness.
SY Harboyan syndrome.
DR MIM; 217400; phenotype.
DR MedGen; C1857572.
DR MeSH; D003317.
KW KW-0209:Deafness.
KW KW-1212:Corneal dystrophy.
//
ID Corneal dystrophy, Avellino type.
AC DI-01264
AR CDA.
DE A corneal disease resulting in reduced visual acuity and characterized
DE by gray, crumb-like granular deposits in the anterior third of the
DE stroma in each corneal button. Fusiform amyloid deposits,
DE histochemically and morphologically identical to those of lattice
DE corneal dystrophy, are found in the deeper stroma. Additional features
DE include recurrent corneal erosions, and glare and decreased night
DE vision.
SY ACD.
SY Avellino corneal dystrophy.
SY CGD2.
SY Combined granular-lattice corneal dystrophy.
SY Granular corneal dystrophy type II.
DR MIM; 607541; phenotype.
DR MedGen; C1275685.
DR MeSH; D003317.
DR MeSH; D028226.
KW KW-1008:Amyloidosis.
KW KW-1212:Corneal dystrophy.
//
ID Corneal dystrophy, congenital stromal.
AC DI-01418
AR CSCD.
DE A corneal dystrophy characterized by congenital corneal opacification
DE consisting of a large number of flakes and spots throughout all layers
DE of the stroma. It results in progressive, painless visual loss.
DE Corneal erosions and photophobia are absent.
DR MIM; 610048; phenotype.
DR MedGen; C1864738.
DR MeSH; D003317.
KW KW-1212:Corneal dystrophy.
//
ID Corneal dystrophy, epithelial basement membrane.
AC DI-01535
AR EBMD.
DE A bilateral anterior corneal dystrophy characterized by grayish
DE epithelial fingerprint lines, geographic map-like lines, and dots (or
DE microcysts) on slit-lamp examination. Pathologic studies show
DE abnormal, redundant basement membrane and intraepithelial lacunae
DE filled with cellular debris.
SY Anterior basement membrane corneal dystrophy.
SY Cogan corneal dystrophy.
SY Map-dot-fingerprint type corneal dystrophy.
SY Microcystic corneal dystrophy.
DR MIM; 121820; phenotype.
DR MedGen; C0521723.
DR MeSH; D003317.
KW KW-1212:Corneal dystrophy.
//
ID Corneal dystrophy, fleck.
AC DI-01431
AR CFD.
DE A form of stromal corneal dystrophy characterized by numerous small
DE white flecks scattered in all levels of the stroma, with
DE configurations varying from semicircular to wreath-like, curvilinear,
DE or punctate. Although CFD may occasionally cause mild photophobia,
DE patients are typically asymptomatic and have normal vision.
SY Corneal dystrophy Francois-Neetens speckled or flecked.
SY FCD.
SY Fleck corneal dystrophy.
DR MIM; 121850; phenotype.
DR MedGen; C1562113.
DR MeSH; D003317.
KW KW-1212:Corneal dystrophy.
//
ID Corneal dystrophy, Fuchs endothelial, 1.
AC DI-01636
AR FECD1.
DE A corneal disease caused by loss of endothelium of the central cornea.
DE It is characterized by focal wart-like guttata that arise from
DE Descemet membrane and develop in the central cornea, epithelial
DE blisters, reduced vision and pain. Descemet membrane is thickened by
DE abnormal collagenous deposition.
SY Corneal dystrophy Fuchs endothelial early-onset.
SY Fuchs dystrophy.
DR MIM; 136800; phenotype.
DR MedGen; C1850959.
DR MeSH; D005642.
KW KW-1212:Corneal dystrophy.
//
ID Corneal dystrophy, Fuchs endothelial, 3.
AC DI-04548
AR FECD3.
DE A late-onset form of Fuchs endothelial corneal dystrophy, a disease
DE caused by loss of endothelium of the central cornea. It is
DE characterized by focal wart-like guttata that arise from Descemet
DE membrane and develop in the central cornea, epithelial blisters,
DE reduced vision and pain. Descemet membrane is thickened by abnormal
DE collagenous deposition.
SY Fuchs endothelial corneal dystrophy, late-onset.
DR MIM; 613267; phenotype.
DR MedGen; C2750451.
DR MeSH; D005642.
KW KW-1212:Corneal dystrophy.
//
ID Corneal dystrophy, Fuchs endothelial, 4.
AC DI-02765
AR FECD4.
DE A corneal disease caused by loss of endothelium of the central cornea.
DE It is characterized by focal wart-like guttata that arise from
DE Descemet membrane and develop in the central cornea, epithelial
DE blisters, reduced vision and pain. Descemet membrane is thickened by
DE abnormal collagenous deposition.
SY Corneal dystrophy Fuchs endothelial late-onset.
SY Fuchs dystrophy late-onset.
DR MIM; 613268; phenotype.
DR MedGen; C2750450.
DR MeSH; D005642.
KW KW-1212:Corneal dystrophy.
//
ID Corneal dystrophy, Fuchs endothelial, 6.
AC DI-02766
AR FECD6.
DE A corneal disease caused by loss of endothelium of the central cornea.
DE It is characterized by focal wart-like guttata that arise from
DE Descemet membrane and develop in the central cornea, epithelial
DE blisters, reduced vision and pain. Descemet membrane is thickened by
DE abnormal collagenous deposition.
SY Corneal dystrophy Fuchs endothelial late-onset.
SY Fuchs dystrophy late-onset.
DR MIM; 613270; phenotype.
DR MedGen; C2750448.
DR MeSH; D005642.
KW KW-1212:Corneal dystrophy.
//
ID Corneal dystrophy, Fuchs endothelial, 8.
AC DI-03947
AR FECD8.
DE A corneal disease caused by loss of endothelium of the central cornea.
DE It is characterized by focal wart-like guttata that arise from
DE Descemet membrane and develop in the central cornea, epithelial
DE blisters, reduced vision and pain. Descemet membrane is thickened by
DE abnormal collagenous deposition.
DR MIM; 615523; phenotype.
DR MedGen; C3809798.
DR MedGen; CN181446.
DR MeSH; D005642.
KW KW-1212:Corneal dystrophy.
//
ID Corneal dystrophy, gelatinous drop-like.
AC DI-01651
AR GDLD.
DE A form of lattice corneal dystrophy, a class of inherited stromal
DE amyloidoses characterized by pathognomonic branching lattice figures
DE in the cornea. GDLD is an autosomal recessive disorder characterized
DE by severe corneal amyloidosis leading to blindness. Clinical
DE manifestations, which appear in the first decade of life, include
DE blurred vision, photophobia, and foreign-body sensation. By the third
DE decade, raised, yellowish-gray, gelatinous masses severely impair
DE visual acuity.
SY Amyloid corneal dystrophy Japanese type.
SY CDGDL.
SY Corneal amyloidosis.
SY Lattice corneal dystrophy type III.
DR MIM; 204870; phenotype.
DR MedGen; C0339273.
DR MeSH; D003317.
DR MeSH; D028226.
KW KW-1008:Amyloidosis.
KW KW-1212:Corneal dystrophy.
//
ID Corneal dystrophy, Groenouw type 1.
AC DI-01427
AR CDGG1.
DE A rare form of stromal corneal dystrophy characterized by multiple
DE small deposits in the superficial central corneal stroma, and
DE progressive visual impairment.
SY Corneal dystrophy Groenouw type I.
SY GCD1.
SY Granular corneal dystrophy type I.
SY MeSH; D003317.
SY Punctate or nodular corneal dystrophy.
DR MIM; 121900; phenotype.
DR MedGen; C1641846.
KW KW-1212:Corneal dystrophy.
//
ID Corneal dystrophy, lattice type 1.
AC DI-01428
AR CDL1.
DE A form of lattice corneal dystrophy, a class of inherited stromal
DE amyloidoses characterized by pathognomonic branching lattice figures
DE in the cornea. CDL1 is characterized by progressive visual impairment,
DE and the presence of delicate, double-contoured, interdigitating,
DE elongated deposits that form a reticular pattern in the corneal
DE stroma. Systemic amyloidosis is absent. Recurrent corneal ulceration
DE sometimes occurs.
SY Corneal dystrophy lattice type I.
SY Lattice corneal dystrophy type I.
SY LCD.
SY LCD1.
DR MIM; 122200; phenotype.
DR MedGen; C1690006.
DR MeSH; D003317.
DR MeSH; D028226.
KW KW-1008:Amyloidosis.
KW KW-1212:Corneal dystrophy.
//
ID Corneal dystrophy, lattice type 3A.
AC DI-01882
AR CDL3A.
DE A form of lattice corneal dystrophy, a class of inherited stromal
DE amyloidoses characterized by pathognomonic branching lattice figures
DE in the cornea. CDL3A is characterized by decreased visual acuity, and
DE the presence of thick, ropy branching lattice lines and accumulations
DE of amyloid deposits in the corneal stroma. Systemic amyloidosis is
DE absent. CDL3A clinically resembles to lattice corneal dystrophy type
DE 3, but differs in that its age of onset is 70 to 90 years. It has an
DE autosomal dominant inheritance pattern.
SY Lattice corneal dystrophy type IIIA.
DR MIM; 608471; phenotype.
DR MedGen; C1837974.
DR MeSH; D003317.
DR MeSH; D028226.
KW KW-1008:Amyloidosis.
KW KW-1212:Corneal dystrophy.
//
ID Corneal dystrophy, Meesmann 1.
AC DI-01959
AR MECD1.
DE A form of Meesmann corneal dystrophy, a corneal disease characterized
DE by fragility of the anterior corneal epithelium. Histological
DE examination shows a disorganized and thickened epithelium with
DE widespread cytoplasmic vacuolation and numerous small, round, debris-
DE laden intraepithelial cysts. Patients are usually asymptomatic until
DE adulthood when rupture of the corneal microcysts may cause erosions,
DE producing clinical symptoms such as photophobia, contact lens
DE intolerance and intermittent diminution of visual acuity. Rarely,
DE subepithelial scarring causes irregular corneal astigmatism and
DE permanent visual impairment. MECD1 inheritance is autosomal dominant.
SY Corneal dystrophy, Meesmann epithelial.
SY Juvenile epithelial corneal dystrophy of Meesmann.
SY MCD.
SY MECD.
SY Meesmann corneal dystrophy.
SY Meesmann epithelial corneal dystrophy.
DR MIM; 122100; phenotype.
DR MedGen; C0339277.
DR MeSH; D053559.
KW KW-1212:Corneal dystrophy.
//
ID Corneal dystrophy, Meesmann 2.
AC DI-05754
AR MECD2.
DE A form of Meesmann corneal dystrophy, a corneal disease characterized
DE by fragility of the anterior corneal epithelium. Histological
DE examination shows a disorganized and thickened epithelium with
DE widespread cytoplasmic vacuolation and numerous small, round, debris-
DE laden intraepithelial cysts. Patients are usually asymptomatic until
DE adulthood when rupture of the corneal microcysts may cause erosions,
DE producing clinical symptoms such as photophobia, contact lens
DE intolerance and intermittent diminution of visual acuity. Rarely,
DE subepithelial scarring causes irregular corneal astigmatism and
DE permanent visual impairment. MECD2 inheritance is autosomal dominant.
DR MIM; 618767; phenotype.
DR MedGen; CN263246.
DR MeSH; D053559.
KW KW-1212:Corneal dystrophy.
//
ID Corneal dystrophy, posterior polymorphous, 1.
AC DI-02640
AR PPCD1.
DE A rare corneal disorder characterized by small aggregates of apparent
DE vesicles bordered by a gray haze at the level of Descemet membrane, an
DE altered corneal endothelial cell structure, and an unusual
DE proliferation of endothelial cells. Symptoms can range from very
DE aggressive to asymptomatic and non-progressive, even within the same
DE family.
SY CHED1.
SY Corneal endothelial dystrophy 1, autosomal dominant.
SY Hereditary polymorphous posterior corneal dystrophy.
SY Maumenee corneal dystrophy.
SY PPCD.
DR MIM; 122000; phenotype.
DR MedGen; C0339284.
DR MeSH; D003317.
KW KW-1212:Corneal dystrophy.
//
ID Corneal dystrophy, posterior polymorphous, 2.
AC DI-02185
AR PPCD2.
DE A rare mild subtype of posterior corneal dystrophy characterized by
DE alterations of Descemet membrane presenting as vesicles, opacities or
DE band-like lesions on slit-lamp examination and specular microscopy.
DE Affected patient typically are asymptomatic.
DR MIM; 609140; phenotype.
DR MedGen; C1852795.
DR MeSH; D003317.
KW KW-1212:Corneal dystrophy.
//
ID Corneal dystrophy, posterior polymorphous, 3.
AC DI-02186
AR PPCD3.
DE A subtype of posterior corneal dystrophy, a disease characterized by
DE alterations of Descemet membrane presenting as vesicles, opacities or
DE band-like lesions on slit-lamp examination and specular microscopy.
DE Affected patient typically are asymptomatic.
DR MIM; 609141; phenotype.
DR MedGen; C1836724.
DR MeSH; D003317.
KW KW-1212:Corneal dystrophy.
//
ID Corneal dystrophy, posterior polymorphous, 4.
AC DI-05267
AR PPCD4.
DE A subtype of posterior corneal dystrophy, a disease characterized by
DE alterations of Descemet membrane presenting as vesicles, opacities or
DE band-like lesions on slit-lamp examination and specular microscopy. In
DE severe cases, corneal endothelial failure may occur and corneal
DE transplantation is required to restore vision. Secondary complications
DE are common and include corneal edema, glaucoma, iris adherence to the
DE cornea, and corectopia. PPCD4 transmission pattern is consistent with
DE autosomal dominant inheritance.
DR MIM; 618031; phenotype.
DR MedGen; CN248531.
DR MeSH; D003317.
KW KW-1212:Corneal dystrophy.
//
ID Corneal dystrophy, Reis-Bucklers type.
AC DI-02252
AR CDRB.
DE A bilateral disorder of the cornea characterized by intermittent
DE attacks of ocular irritation, recurrent painful corneal erosions
DE starting in childhood, corneal opacities in a geographic pattern at
DE the level of the Bowman layer, and a progressive decrease of visual
DE acuity. The lesions are primarily in Bowman membrane with secondary
DE involvement of the epithelium and superficial part of the stroma.
DE Bowman membrane is almost completely replaced by pathologic materials
DE including disoriented collagen fibrils.
SY CDB1.
SY Corneal dystrophy of Bowman layer type I.
SY Geographic corneal dystrophy.
SY Granular corneal dystrophy type III.
SY RBCD.
SY Reis-Bucklers corneal dystrophy.
DR MIM; 608470; phenotype.
DR MedGen; C0339278.
DR MeSH; D003317.
KW KW-1212:Corneal dystrophy.
//
ID Corneal dystrophy, Schnyder type.
AC DI-01457
AR SCCD.
DE A form of stromal corneal dystrophy characterized by corneal clouding,
DE resulting from abnormal deposition of cholesterol and phospholipids,
DE and decreased visual acuity. Typically, ring-shaped yellow-white
DE opacities composed of innumerable fine needle-shaped crystals form in
DE Bowman layer and the adjacent anterior stroma of the central cornea.
DE The crystals usually remain in the anterior third of the cornea. The
DE corneal epithelium and endothelium as well as Descemet membrane are
DE spared.
SY SCD.
SY Schnyder corneal dystrophy.
SY Schnyder crystalline corneal dystrophy.
DR MIM; 121800; phenotype.
DR MedGen; C0271287.
DR MeSH; D003317.
KW KW-1212:Corneal dystrophy.
//
ID Corneal dystrophy, Thiel-Behnke type.
AC DI-01429
AR CDTB.
DE A bilateral disorder of the cornea characterized by progressive
DE honeycomb-like, subepithelial corneal opacities with recurrent
DE erosions.
SY CDB2.
SY Corneal dystrophy of Bowman layer type II.
SY Honeycomb-shaped corneal dystrophy.
SY TBCD.
SY Thiel-Behnke corneal dystrophy.
DR MIM; 602082; phenotype.
DR MedGen; C1562894.
DR MeSH; D003317.
KW KW-1212:Corneal dystrophy.
//
ID Corneal endothelial dystrophy.
AC DI-01430
AR CHED.
DE A congenital corneal dystrophy characterized by thickening and
DE opacification of the cornea, altered morphology of the endothelium,
DE and secretion of an abnormal collagenous layer at the Descemet
DE membrane.
SY CHED2.
SY Congenital hereditary endothelial corneal dystrophy.
SY Congenital hereditary endothelial dystrophy of cornea.
SY Corneal endothelial dystrophy 2, autosomal recessive.
SY Maumenee corneal dystrophy.
DR MIM; 217700; phenotype.
DR MedGen; C1857569.
DR MeSH; D003317.
KW KW-1212:Corneal dystrophy.
//
ID Cornelia de Lange syndrome 1.
AC DI-00379
AR CDLS1.
DE A form of Cornelia de Lange syndrome, a clinically heterogeneous
DE developmental disorder associated with malformations affecting
DE multiple systems. Characterized by facial dysmorphisms, abnormal hands
DE and feet, growth delay, cognitive retardation, hirsutism,
DE gastroesophageal dysfunction and cardiac, ophthalmologic and
DE genitourinary anomalies.
SY Amstelodamensis typus degenerativus.
DR MIM; 122470; phenotype.
DR MedGen; C0270972.
DR MedGen; CN029798.
DR MeSH; D003635.
KW KW-0991:Intellectual disability.
//
ID Cornelia de Lange syndrome 2.
AC DI-00380
AR CDLS2.
DE A form of Cornelia de Lange syndrome, a clinically heterogeneous
DE developmental disorder associated with malformations affecting
DE multiple systems. Characterized by facial dysmorphisms, abnormal hands
DE and feet, growth delay, cognitive retardation, hirsutism,
DE gastroesophageal dysfunction and cardiac, ophthalmologic and
DE genitourinary anomalies.
SY Cornelia de Lange syndrome X-linked.
DR MIM; 300590; phenotype.
DR MedGen; C1802395.
DR MeSH; D003635.
KW KW-0991:Intellectual disability.
//
ID Cornelia de Lange syndrome 3 with or without midline brain defects.
AC DI-01432
AR CDLS3.
DE A form of Cornelia de Lange syndrome, a clinically heterogeneous
DE developmental disorder associated with malformations affecting
DE multiple systems. Characterized by facial dysmorphisms, abnormal hands
DE and feet, growth delay, cognitive retardation, hirsutism,
DE gastroesophageal dysfunction and cardiac, ophthalmologic and
DE genitourinary anomalies. Cornelia de Lange syndrome type 3 is a mild
DE form with absence of major structural anomalies. The phenotype in some
DE instances approaches that of apparently non-syndromic intellectual
DE disability.
DR MIM; 610759; phenotype.
DR MedGen; C1853099.
DR MeSH; D003635.
KW KW-0991:Intellectual disability.
//
ID Cornelia de Lange syndrome 4 with or without midline brain defects.
AC DI-03491
AR CDLS4.
DE A form of Cornelia de Lange syndrome, a clinically heterogeneous
DE developmental disorder associated with malformations affecting
DE multiple systems. It is characterized by facial dysmorphisms, abnormal
DE hands and feet, growth delay, cognitive retardation, hirsutism,
DE gastroesophageal dysfunction and cardiac, ophthalmologic and
DE genitourinary anomalies.
DR MIM; 614701; phenotype.
DR MedGen; C3553517.
DR MedGen; CN130277.
DR MeSH; D003635.
KW KW-0991:Intellectual disability.
//
ID Cornelia de Lange syndrome 5.
AC DI-03541
AR CDLS5.
DE A form of Cornelia de Lange syndrome, a clinically heterogeneous
DE developmental disorder associated with malformations affecting
DE multiple systems. It is characterized by facial dysmorphisms, abnormal
DE hands and feet, growth delay, cognitive retardation, hirsutism,
DE gastroesophageal dysfunction and cardiac, ophthalmologic and
DE genitourinary anomalies.
DR MIM; 300882; phenotype.
DR MedGen; C3550903.
DR MedGen; CN159225.
DR MeSH; D003635.
KW KW-0991:Intellectual disability.
//
ID Coronary artery disease.
AC DI-04956
AR CAD.
DE A common heart disease characterized by reduced or absent blood flow
DE in one or more of the arteries that encircle and supply the heart. Its
DE most important complication is acute myocardial infarction.
SY Coronary artery disease, severe.
DR MIM; 617347; phenotype.
DR MedGen; C0020479.
DR MeSH; D003324.
//
ID Coronary artery disease, autosomal dominant, 1.
AC DI-01202
AR ADCAD1.
DE A common heart disease characterized by reduced or absent blood flow
DE in one or more of the arteries that encircle and supply the heart. Its
DE most important complication is acute myocardial infarction.
SY Coronary artery disease with myocardial infarction.
DR MIM; 608320; phenotype.
DR MedGen; C1842247.
DR MeSH; D003324.
//
ID Coronary artery disease, autosomal dominant, 2.
AC DI-01203
AR ADCAD2.
DE A common heart disease characterized by reduced or absent blood flow
DE in one or more of the arteries that encircle and supply the heart. Its
DE most important complication is acute myocardial infarction.
DR MIM; 610947; phenotype.
DR MedGen; C1970440.
DR MeSH; D003324.
//
ID Coronary heart disease 5.
AC DI-02840
AR CHDS5.
DE A multifactorial disease characterized by an imbalance between
DE myocardial functional requirements and the capacity of the coronary
DE vessels to supply sufficient blood flow. Decreased capacity of the
DE coronary vessels is often associated with thickening and loss of
DE elasticity of the coronary arteries.
SY Coronary artery disease early-onset.
DR MIM; 608901; phenotype.
DR MedGen; C1837173.
DR MeSH; D003324.
//
ID Coronary heart disease 6.
AC DI-03346
AR CHDS6.
DE A multifactorial disease characterized by an imbalance between
DE myocardial functional requirements and the capacity of the coronary
DE vessels to supply sufficient blood flow. Decreased capacity of the
DE coronary vessels is often associated with thickening and loss of
DE elasticity of the coronary arteries.
DR MIM; 614466; phenotype.
DR MedGen; C3280913.
DR MeSH; D003324.
//
ID Coronary heart disease 7.
AC DI-02841
AR CHDS7.
DE A multifactorial disease characterized by an imbalance between
DE myocardial functional requirements and the capacity of the coronary
DE vessels to supply sufficient blood flow. Decreased capacity of the
DE coronary vessels is often associated with thickening and loss of
DE elasticity of the coronary arteries.
DR MIM; 610938; phenotype.
DR MedGen; C1970441.
DR MeSH; D003327.
//
ID Cortical dysplasia, complex, with other brain malformations 1.
AC DI-03150
AR CDCBM1.
DE A disorder of aberrant neuronal migration and disturbed axonal
DE guidance. Affected individuals have mild to severe intellectual
DE disability, strabismus, axial hypotonia, and spasticity. Brain imaging
DE shows variable malformations of cortical development, including
DE polymicrogyria, gyral disorganization, and fusion of the basal
DE ganglia, as well as thin corpus callosum, hypoplastic brainstem, and
DE dysplastic cerebellar vermis. Extraocular muscles are not involved.
DR MIM; 614039; phenotype.
DR MedGen; C3279670.
DR MeSH; D054081.
//
ID Cortical dysplasia, complex, with other brain malformations 10.
AC DI-05688
AR CDCBM10.
DE An autosomal recessive disorder of aberrant neuronal migration during
DE brain development. CDCBM10 is clinically characterized by onset in
DE infancy of global developmental delay, impaired intellectual
DE development, seizures, inability to ambulate, and absent language.
DE Brain imaging shows lissencephaly, cortical dysplasia, subcortical
DE heterotopia, and paucity of white matter.
DR MIM; 618677; phenotype.
DR MedGen; CN262902.
DR MeSH; D054220.
KW KW-0451:Lissencephaly.
//
ID Cortical dysplasia, complex, with other brain malformations 2.
AC DI-03883
AR CDCBM2.
DE A disorder of aberrant neuronal migration and disturbed axonal
DE guidance. Clinical features include intrauterine growth retardation,
DE fetal akinesia, seizures, microcephaly, lack of psychomotor
DE development, and arthrogryposis. Brain imaging shows malformations of
DE cortical development, including polymicrogyria, gyral simplification,
DE and thin corpus callosum.
DR MIM; 615282; phenotype.
DR MedGen; C3809013.
DR MedGen; CN180044.
DR MeSH; D054081.
//
ID Cortical dysplasia, complex, with other brain malformations 3.
AC DI-03884
AR CDCBM3.
DE A disorder of aberrant neuronal migration and disturbed axonal
DE guidance. Clinical features include early-onset epilepsy, and various
DE malformations of cortical development such as agyria, posterior or
DE frontal pachygyria, subcortical band heterotopia, and thin corpus
DE callosum.
DR MIM; 615411; phenotype.
DR MedGen; C3809414.
DR MedGen; CN180045.
DR MeSH; D054081.
KW KW-0451:Lissencephaly.
//
ID Cortical dysplasia, complex, with other brain malformations 4.
AC DI-03885
AR CDCBM4.
DE A disorder of aberrant neuronal migration and disturbed axonal
DE guidance. Clinical features include early-onset seizures,
DE microcephaly, spastic tetraplegia, and various malformations of
DE cortical development, such as agyria, posterior or frontal pachygyria,
DE thick cortex, and subcortical band heterotopia and thin corpus
DE callosum in some patients.
DR MIM; 615412; phenotype.
DR MedGen; C3809420.
DR MedGen; CN180046.
DR MeSH; D054081.
KW KW-0451:Lissencephaly.
//
ID Cortical dysplasia, complex, with other brain malformations 5.
AC DI-04097
AR CDCBM5.
DE A disorder of aberrant neuronal migration and disturbed axonal
DE guidance. Clinical features include seizures, global developmental
DE delay, and various brain malformations such as a diffuse simplified
DE gyral pattern with reduced volume of white matter, globular basal
DE ganglia, thin and dysmorphic corpus callosum, mild brainstem
DE hypoplasia with a flat pons, mild cerebellar vermis hypoplasia, and
DE mildly enlarged posterior fossa.
DR MIM; 615763; phenotype.
DR MedGen; C3810407.
DR MedGen; CN186201.
DR MeSH; D054081.
//
ID Cortical dysplasia, complex, with other brain malformations 6.
AC DI-04083
AR CDCBM6.
DE A disorder of aberrant neuronal migration and disturbed axonal
DE guidance. Affected individuals have microcephaly, ataxia, and severe
DE delayed psychomotor development. Brain imaging shows variable
DE malformations of cortical development, including white matter streaks,
DE dysmorphic basal ganglia, corpus callosum abnormalities, brainstem and
DE cerebellar hypoplasia, cortical dysplasia, polymicrogyria.
DR MIM; 615771; phenotype.
DR MedGen; CN186681.
DR MeSH; D054081.
//
ID Cortical dysplasia, complex, with other brain malformations 7.
AC DI-02622
AR CDCBM7.
DE A malformation of the cortex in which the brain surface is irregular
DE and characterized by an excessive number of small gyri with abnormal
DE lamination. Polymicrogyria is a heterogeneous disorder, considered to
DE be the result of postmigratory abnormal cortical organization.
SY PMGYSA.
SY Polymicrogyria, symmetric or asymmetric.
DR MIM; 610031; phenotype.
DR MedGen; C2750247.
DR MedGen; C3552236.
DR MeSH; D054220.
//
ID Cortical dysplasia, complex, with other brain malformations 8.
AC DI-02826
AR CDCBM8.
DE A disease characterized by extensive polymicrogyria, optic nerve
DE hypoplasia, severe developmental delay, hypotonia, seizures, a
DE dysplastic or absent corpus callosum and colpocephaly. Polymicrogyria
DE is a malformation of the cortex in which the brain surface is
DE irregular and characterized by an excessive number of small gyri with
DE abnormal lamination. Polymicrogyria is a heterogeneous disorder,
DE considered to be the result of postmigratory abnormal cortical
DE organization.
SY Polymicrogyria, with optic nerve hypoplasia.
DR MIM; 613180; phenotype.
DR MedGen; C2750798.
DR MeSH; D054220.
//
ID Cortical dysplasia, complex, with other brain malformations 9.
AC DI-05375
AR CDCBM9.
DE An autosomal recessive disorder characterized by neurodevelopmental
DE delay apparent from early infancy, acquired microcephaly, hypotonic
DE cerebral palsy, inability to ambulate or speak, and intractable
DE seizures. Brain imaging shows pachygyria with severe cortical gray
DE matter thickening, paucity of gyri without an obvious posterior-
DE anterior gradient or focal dysplasias, hypogenesis of the corpus
DE callosum, and cerebellar hypoplasia.
DR MIM; 618174; phenotype.
DR MedGen; CN257774.
DR MeSH; D054220.
KW KW-0451:Lissencephaly.
//
ID Cortical dysplasia-focal epilepsy syndrome.
AC DI-00381
AR CDFES.
DE A disease characterized by cortical dysplasia, focal epilepsy,
DE relative macrocephaly, and diminished deep-tendon reflexes.
DE Intractable focal seizures begin in early childhood, after which
DE language regression, hyperactivity, impulsive and aggressive behavior,
DE and intellectual disability develop.
DR MIM; 610042; phenotype.
DR MedGen; C1864887.
DR MeSH; D054220.
KW KW-0887:Epilepsy.
//
ID Cortical malformations occipital.
AC DI-03207
AR OCCM.
DE A disease in which affected individuals develop seizures, sometimes
DE associated with transient visual changes. Brain MRI shows both
DE pachygyria and polymicrogyria restricted to the lateral occipital
DE lobes.
DR MIM; 614115; phenotype.
DR MedGen; C3279875.
DR MeSH; D054220.
//
ID Corticosteroid-binding globulin deficiency.
AC DI-01433
AR CBG deficiency.
DE Extremely rare hereditary disorder characterized by reduced
DE corticosteroid-binding capacity with normal or low plasma
DE corticosteroid-binding globulin concentration, and normal or low basal
DE cortisol levels associated with hypo/hypertension and muscle fatigue.
DR MIM; 611489; phenotype.
DR MedGen; C1852529.
DR MedGen; C1969107.
//
ID Corticosterone methyloxidase 1 deficiency.
AC DI-01434
AR CMO-1 deficiency.
DE Autosomal recessive disorder of aldosterone biosynthesis. There are
DE two biochemically different forms of selective aldosterone deficiency
DE be termed corticosterone methyloxidase (CMO) deficiency type 1 and
DE type 2. In CMO-1 deficiency, aldosterone is undetectable in plasma,
DE while its immediate precursor, 18-hydroxycorticosterone, is low or
DE normal.
SY Aldosterone deficiency due to defect in 18-hydroxylase.
SY Aldosterone deficiency I.
DR MIM; 203400; phenotype.
DR MedGen; CN074214.
//
ID Corticosterone methyloxidase 2 deficiency.
AC DI-01435
AR CMO-2 deficiency.
DE Autosomal recessive disorder of aldosterone biosynthesis. In CMO-2
DE deficiency, aldosterone can be low or normal, but at the expense of
DE increased secretion of 18-hydroxycorticosterone. Consequently,
DE patients have a greatly increased ratio of 18-hydroxycorticosterone to
DE aldosterone and a low ratio of corticosterone to 18-
DE hydroxycorticosterone in serum.
DR MIM; 610600; phenotype.
DR MedGen; C3463917.
DR MedGen; CN074247.
//
ID Cortisone reductase deficiency 1.
AC DI-01436
AR CORTRD1.
DE An autosomal recessive error of cortisone metabolism characterized by
DE a failure to regenerate cortisol from cortisone, resulting in
DE increased cortisol clearance, activation of the hypothalamic-pituitary
DE axis and ACTH-mediated adrenal androgen excess. Clinical features
DE include hyperandrogenism resulting in hirsutism, oligo-amenorrhea, and
DE infertility in females and premature pseudopuberty in males.
DR MIM; 604931; phenotype.
DR MedGen; C3551716.
DR MeSH; D008661.
//
ID Cortisone reductase deficiency 2.
AC DI-05184
AR CORTRD2.
DE An autosomal dominant error of cortisone metabolism characterized by a
DE failure to regenerate cortisol from cortisone, resulting in increased
DE cortisol clearance, activation of the hypothalamic- pituitary axis and
DE ACTH-mediated adrenal androgen excess. Clinical features include
DE hyperandrogenism resulting in hirsutism, oligo- amenorrhea, and
DE infertility in females and premature pseudopuberty in males.
DR MIM; 614662; phenotype.
DR MedGen; C1291245.
DR MeSH; D008661.
//
ID Costello syndrome.
AC DI-01437
AR CSTLO.
DE A rare condition characterized by prenatally increased growth,
DE postnatal growth deficiency, intellectual disability, distinctive
DE facial appearance, cardiovascular abnormalities (typically pulmonic
DE stenosis, hypertrophic cardiomyopathy and/or atrial tachycardia),
DE tumor predisposition, skin and musculoskeletal abnormalities.
SY Faciocutaneoskeletal syndrome.
SY FCSS.
SY FCS syndrome.
DR MIM; 218040; phenotype.
DR MedGen; C0587248.
DR MeSH; D056685.
//
ID Coumarin resistance.
AC DI-01438
AR CMRES.
DE A condition characterized by partial or complete resistance to
DE warfarin or other 4-hydroxycoumarin derivatives. These drugs are used
DE as anti-coagulants for the prevention of thromboembolic diseases in
DE subjects with deep vein thrombosis, atrial fibrillation, or mechanical
DE heart valve replacement.
SY Poor metabolism of coumarin.
SY Warfarin resistance.
DR MIM; 122700; phenotype.
DR MedGen; C0750384.
DR MedGen; C2608079.
DR MedGen; C2675747.
DR MedGen; CN078029.
DR MeSH; D004351.
//
ID Cousin syndrome.
AC DI-01439
AR COUSS.
DE Defined as pelviscapular dysplasia with epiphyseal abnormalities,
DE congenital dwarfism and facial dysmorphy (frontal bossing,
DE hypertelorism, narrow palpebral fissures, deep set globes, strabismus,
DE low-set posteriory rotated and unusually formed external ears,
DE dysplasia of conchae, small chin, short neck with redundant skin
DE folds, and a low hairline). Intelligence may vary from normal to
DE moderately impaired. Radiographic features comprise aplasia of the
DE body of the scapula, hypoplasia of the iliac bone, humeroradial
DE synosthosis, dislocation of the femoral heads, and moderate
DE brachydactyly.
SY Craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature.
DR MIM; 260660; phenotype.
DR MedGen; C1850040.
//
ID Cowden syndrome 1.
AC DI-01440
AR CWS1.
DE An autosomal dominant hamartomatous polyposis syndrome with age-
DE related penetrance. Cowden syndrome is characterized by hamartomatous
DE lesions affecting derivatives of ectodermal, mesodermal and endodermal
DE layers, macrocephaly, facial trichilemmomas (benign tumors of the hair
DE follicle infundibulum), acral keratoses, papillomatous papules, and
DE elevated risk for development of several types of malignancy,
DE particularly breast carcinoma in women and thyroid carcinoma in both
DE men and women. Colon cancer and renal cell carcinoma have also been
DE reported. Hamartomas can be found in virtually every organ, but most
DE commonly in the skin, gastrointestinal tract, breast and thyroid.
SY Bannayan-Riley-Ruvalcaba syndrome.
SY Bannayan-Ruvalcaba-Riley syndrome.
SY Bannayan-Zonana syndrome.
SY BZS.
SY CD.
SY Cowden disease.
SY CS.
SY Macrocephaly multiple lipomas and hemangiomata.
SY Macrocephaly pseudopapilledema and multiple hemangiomata.
SY MHAM.
SY Multiple hamartoma syndrome.
SY PHTS.
SY PTEN hamartoma tumor syndrome.
SY Riley-Smith syndrome.
SY RMSS.
SY Ruvalcaba-Myhre-Smith syndrome.
DR MIM; 158350; phenotype.
DR MedGen; C0018553.
DR MeSH; D006223.
//
ID Cowden syndrome 4.
AC DI-03695
AR CWS4.
DE A form of Cowden syndrome, a hamartomatous polyposis syndrome with
DE age-related penetrance. Cowden syndrome is characterized by
DE hamartomatous lesions affecting derivatives of ectodermal, mesodermal
DE and endodermal layers, macrocephaly, facial trichilemmomas (benign
DE tumors of the hair follicle infundibulum), acral keratoses,
DE papillomatous papules, and elevated risk for development of several
DE types of malignancy, particularly breast carcinoma in women and
DE thyroid carcinoma in both men and women. Colon cancer and renal cell
DE carcinoma have also been reported. Hamartomas can be found in
DE virtually every organ, but most commonly in the skin, gastrointestinal
DE tract, breast and thyroid.
DR MIM; 615107; phenotype.
DR MedGen; C3554517.
DR MedGen; CN166605.
DR MeSH; D006223.
//
ID Cowden syndrome 5.
AC DI-03696
AR CWS5.
DE A form of Cowden syndrome, a hamartomatous polyposis syndrome with
DE age-related penetrance. Cowden syndrome is characterized by
DE hamartomatous lesions affecting derivatives of ectodermal, mesodermal
DE and endodermal layers, macrocephaly, facial trichilemmomas (benign
DE tumors of the hair follicle infundibulum), acral keratoses,
DE papillomatous papules, and elevated risk for development of several
DE types of malignancy, particularly breast carcinoma in women and
DE thyroid carcinoma in both men and women. Colon cancer and renal cell
DE carcinoma have also been reported. Hamartomas can be found in
DE virtually every organ, but most commonly in the skin, gastrointestinal
DE tract, breast and thyroid.
DR MIM; 615108; phenotype.
DR MedGen; C3554518.
DR MedGen; CN166606.
DR MeSH; D006223.
//
ID Cowden syndrome 6.
AC DI-03697
AR CWS6.
DE A form of Cowden syndrome, a hamartomatous polyposis syndrome with
DE age-related penetrance. Cowden syndrome is characterized by
DE hamartomatous lesions affecting derivatives of ectodermal, mesodermal
DE and endodermal layers, macrocephaly, facial trichilemmomas (benign
DE tumors of the hair follicle infundibulum), acral keratoses,
DE papillomatous papules, and elevated risk for development of several
DE types of malignancy, particularly breast carcinoma in women and
DE thyroid carcinoma in both men and women. Colon cancer and renal cell
DE carcinoma have also been reported. Hamartomas can be found in
DE virtually every organ, but most commonly in the skin, gastrointestinal
DE tract, breast and thyroid.
DR MIM; 615109; phenotype.
DR MedGen; C3554519.
DR MedGen; CN166607.
DR MeSH; D006223.
//
ID Cowden syndrome 7.
AC DI-04679
AR CWS7.
DE A form of Cowden syndrome, a hamartomatous polyposis syndrome with
DE age-related penetrance. Cowden syndrome is characterized by
DE hamartomatous lesions affecting derivatives of ectodermal, mesodermal
DE and endodermal layers, macrocephaly, facial trichilemmomas (benign
DE tumors of the hair follicle infundibulum), acral keratoses,
DE papillomatous papules, and elevated risk for development of several
DE types of malignancy, particularly breast carcinoma in women and
DE thyroid carcinoma in both men and women. Colon cancer and renal cell
DE carcinoma have also been reported. Hamartomas can be found in
DE virtually every organ, but most commonly in the skin, gastrointestinal
DE tract, breast and thyroid. CWS7 inheritance is autosomal dominant.
DR MIM; 616858; phenotype.
DR MedGen; CN235533.
DR MeSH; D006223.
//
ID Craniodiaphyseal dysplasia autosomal dominant.
AC DI-03135
AR CDD.
DE A severe bone dysplasia characterized by massive generalized
DE hyperostosis and sclerosis, especially involving the skull and facial
DE bones. The sclerosis is so severe that the resulting facial distortion
DE is referred to as 'leontiasis ossea' (leonine faces) and the bone
DE deposition results in progressive stenosis of craniofacial foramina.
DE Respiratory obstruction due to choanal stenosis compromises the
DE clinical outcomes of affected patients.
SY Schaefer Stein Oshman syndrome.
DR MIM; 122860; phenotype.
DR MedGen; C2675746.
DR MeSH; D000015.
DR MeSH; D019465.
//
ID Cranioectodermal dysplasia 1.
AC DI-02715
AR CED1.
DE A disorder characterized by craniofacial, skeletal and ectodermal
DE abnormalities. Clinical features include dolichocephaly (with or
DE without sagittal suture synostosis), scaphocephaly, short stature,
DE limb shortening, short ribs, narrow chest, brachydactyly, renal
DE failure and hepatic fibrosis, small and abnormally shaped teeth,
DE sparse hair, skin laxity and abnormal nails.
SY Cranio-ectodermal dysplasia.
SY Levin syndrome I.
SY Sensenbrenner syndrome.
DR MIM; 218330; phenotype.
DR MedGen; C0432235.
DR MeSH; D004476.
KW KW-0038:Ectodermal dysplasia.
KW KW-1186:Ciliopathy.
//
ID Cranioectodermal dysplasia 2.
AC DI-02916
AR CED2.
DE A disorder characterized by craniofacial, skeletal and ectodermal
DE abnormalities. Clinical features include short stature,
DE dolichocephaly, craniosynostosis, narrow thorax with pectus excavatum,
DE short limbs, brachydactyly, joint laxity, narrow palpebral fissures,
DE telecanthus with hypertelorism, low-set simple ears, everted lower
DE lip, and short neck. Teeth abnormalities include widely spaced,
DE hypoplastic and fused teeth.
SY Sensenbrenner syndrome 2.
DR MIM; 613610; phenotype.
DR MedGen; C3150874.
DR MeSH; D004476.
KW KW-0038:Ectodermal dysplasia.
KW KW-1186:Ciliopathy.
//
ID Cranioectodermal dysplasia 3.
AC DI-03183
AR CED3.
DE A disorder primarily characterized by craniofacial, skeletal and
DE ectodermal abnormalities. Clinical features include craniosynostosis,
DE narrow rib cage, short limbs, brachydactyly, hypoplastic and widely
DE spaced teeth, sparse hair, skin laxity and abnormal nails.
DE Nephronophthisis leading to progressive renal failure, hepatic
DE fibrosis, heart defects, and retinitis pigmentosa have also been
DE described.
SY Sensenbrenner syndrome 3.
DR MIM; 614099; phenotype.
DR MedGen; C3279807.
DR MeSH; D004476.
KW KW-0038:Ectodermal dysplasia.
KW KW-1186:Ciliopathy.
//
ID Cranioectodermal dysplasia 4.
AC DI-03327
AR CED4.
DE A disorder primarily characterized by craniofacial, skeletal and
DE ectodermal abnormalities. Clinical features include craniosynostosis,
DE narrow rib cage, short limbs, brachydactyly, hypoplastic and widely
DE spaced teeth, sparse hair, skin laxity and abnormal nails.
DE Nephronophthisis leading to progressive renal failure, hepatic
DE fibrosis, heart defects, and retinitis pigmentosa have also been
DE described.
SY Sensenbrenner syndrome 4.
DR MIM; 614378; phenotype.
DR MedGen; C3280616.
DR MeSH; D004476.
KW KW-0038:Ectodermal dysplasia.
KW KW-1186:Ciliopathy.
//
ID Craniofacial anomalies and anterior segment dysgenesis syndrome.
AC DI-03261
AR CAASDS.
DE A disorder with extremely variable expressivity. Clinical features
DE include wide interpupillary distance, abnormal corneal endothelium,
DE unusual pinnae, partially to completely empty sella turcica, posterior
DE fossa cyst, anterior encephalocele, and/or hydrocephalus.
DR MIM; 614195; phenotype.
DR MedGen; C1857964.
DR MedGen; C3280099.
DR MeSH; D019465.
//
ID Craniofacial dysmorphism, skeletal anomalies and intellectual disability syndrome.
AC DI-03178
AR CFSMR.
DE A disorder characterized by craniofacial and skeletal anomalies,
DE associated with intellectual disability. Typical craniofacial
DE dysmorphism include brachycephaly, highly arched bushy eyebrows,
DE synophrys, long eyelashes, low-set ears, microdontism of primary
DE teeth, and generalized gingival hyperplasia, whereas Sprengel
DE deformity of scapula, fusion of spine, rib abnormities, pectus
DE excavatum, and pes planus represent skeletal anomalies.
SY Cerebrofaciothoracic dysplasia.
SY Cerebro-facio-thoracic dysplasia.
SY TMCO1 defect syndrome.
DR MIM; 213980; phenotype.
DR MedGen; C1859252.
DR MeSH; D008607.
DR MeSH; D009139.
DR MeSH; D019465.
KW KW-0991:Intellectual disability.
//
ID Craniofacial microsomia.
AC DI-06354
AR CFM.
DE An autosomal dominant congenital anomaly characterized by mandibular
DE hypoplasia, microtia, facial and preauricular skin tags, epibulbar
DE dermoids, and lateral oral clefts. Affected individuals also present
DE skeletal and cardiac abnormalities.
SY Facioauriculovertebral sequence.
SY Facio-auriculo-vertebral spectrum.
SY FAV sequence.
SY Goldenhar syndrome.
SY Hemifacial microsomia.
SY OAV dysplasia.
SY OAVS.
SY Oculoauricular vertebral dysplasia.
SY Oculoauriculovertebral spectrum.
SY Oculo-auriculo-vertebral spectrum.
DR MIM; 164210; phenotype.
DR MedGen; C0265240.
DR MeSH; D006053.
//
ID Craniofacial-deafness-hand syndrome.
AC DI-01442
AR CDHS.
DE Thought to be an autosomal dominant disease which comprises absence or
DE hypoplasia of the nasal bones, hypoplastic maxilla, small and short
DE nose with thin nares, limited movement of the wrist, short palpebral
DE fissures, ulnar deviation of the fingers, hypertelorism and profound
DE sensory-neural deafness.
DR MIM; 122880; phenotype.
DR MedGen; C1852510.
//
ID Craniofrontonasal syndrome.
AC DI-01443
AR CFNS.
DE X-linked inherited syndrome characterized by hypertelorism, coronal
DE synostosis with brachycephaly, downslanting palpebral fissures,
DE clefting of the nasal tip, joint anomalies, longitudinally grooved
DE fingernails and other digital anomalies.
SY CFND.
SY Craniofrontonasal dysostosis.
SY Craniofrontonasal dysplasia.
DR MIM; 304110; phenotype.
DR MedGen; C0220767.
DR MeSH; D019465.
KW KW-0989:Craniosynostosis.
//
ID Craniolenticulosutural dysplasia.
AC DI-01444
AR CLSD.
DE Autosomal recessive syndrome characterized by late-closing fontanels,
DE sutural cataracts, facial dysmorphisms and skeletal defects.
SY Boyadjiev-Jabs syndrome.
SY Cranio-lenticulo-sutural dysplasia.
DR MIM; 607812; phenotype.
DR MedGen; C1843042.
DR MeSH; D001848.
DR MeSH; D019465.
//
ID Craniometaphyseal dysplasia, autosomal dominant.
AC DI-01445
AR CMDD.
DE An osteochondrodysplasia characterized by hyperostosis and sclerosis
DE of the craniofacial bones associated with abnormal modeling of the
DE metaphyses. Sclerosis of the skull may lead to asymmetry of the
DE mandible, as well as to cranial nerve compression, that may finally
DE result in hearing loss and facial palsy.
SY CMDJ.
SY Craniometaphyseal dysplasia Jackson type.
DR MIM; 123000; phenotype.
DR MedGen; C1852502.
DR MeSH; D010009.
DR MeSH; D019465.
//
ID Craniometaphyseal dysplasia, autosomal recessive.
AC DI-03897
AR CMDR.
DE An osteochondrodysplasia characterized by hyperostosis and sclerosis
DE of the craniofacial bones associated with abnormal modeling of the
DE metaphyses. Sclerosis of the skull may lead to asymmetry of the
DE mandible, as well as to cranial nerve compression, that may finally
DE result in hearing loss and facial palsy.
DR MIM; 218400; phenotype.
DR MedGen; C2931244.
DR MeSH; D010009.
DR MeSH; D019465.
//
ID Cranioosteoarthropathy.
AC DI-01446
AR COA.
DE A form of osteoarthropathy characterized by swelling of the joints,
DE digital clubbing, hyperhidrosis, delayed closure of the fontanels,
DE periostosis, and variable patent ductus arteriosus. Pachydermia is not
DE a prominent feature.
DR MIM; 259100; phenotype.
DR MedGen; C2678439.
DR MedGen; C2678440.
DR MedGen; C2678441.
DR MeSH; D010004.
//
ID Craniosynostosis 1.
AC DI-01447
AR CRS1.
DE A primary abnormality of skull growth involving premature fusion of
DE one or more cranial sutures. The growth velocity of the skull often
DE cannot match that of the developing brain resulting in an abnormal
DE head shape and, in some cases, increased intracranial pressure, which
DE must be treated promptly to avoid permanent neurodevelopmental
DE disability.
SY Craniostenosis.
SY CRS.
DR MIM; 123100; phenotype.
DR MedGen; C0265534.
DR MedGen; CN029978.
DR MeSH; D003398.
KW KW-0989:Craniosynostosis.
//
ID Craniosynostosis 2.
AC DI-00382
AR CRS2.
DE A primary abnormality of skull growth involving premature fusion of
DE one or more cranial sutures. The growth velocity of the skull often
DE cannot match that of the developing brain resulting in an abnormal
DE head shape and, in some cases, increased intracranial pressure, which
DE must be treated promptly to avoid permanent neurodevelopmental
DE disability. CRS2 is characterized by either fronto-orbital recession,
DE or frontal bossing, or turribrachycephaly, or cloverleaf skull.
DE Associated features include severe headache, high incidence of visual
DE problems (myopia or hyperopia), and short first metatarsals.
DE Intelligence is normal.
SY Craniosynostosis Boston type.
SY Craniosynostosis Boston-type.
SY Craniosynostosis Warman type.
SY Craniosynostosis Warman-type.
SY CSB.
SY Warman-Mulliken-Hayward syndrome.
DR MIM; 604757; phenotype.
DR MedGen; C1858160.
DR MeSH; D003398.
KW KW-0989:Craniosynostosis.
//
ID Craniosynostosis 3.
AC DI-03808
AR CRS3.
DE A primary abnormality of skull growth involving premature fusion of
DE one or more cranial sutures. The growth velocity of the skull often
DE cannot match that of the developing brain resulting in an abnormal
DE head shape and, in some cases, increased intracranial pressure, which
DE must be treated promptly to avoid permanent neurodevelopmental
DE disability.
DR MIM; 615314; phenotype.
DR MedGen; C3715051.
DR MedGen; CN177972.
DR MeSH; D003398.
KW KW-0989:Craniosynostosis.
//
ID Craniosynostosis 4.
AC DI-03809
AR CRS4.
DE A primary abnormality of skull growth involving premature fusion of
DE one or more cranial sutures. The growth velocity of the skull often
DE cannot match that of the developing brain resulting in an abnormal
DE head shape and, in some cases, increased intracranial pressure, which
DE must be treated promptly to avoid permanent neurodevelopmental
DE disability.
DR MIM; 600775; phenotype.
DR MedGen; C1833340.
DR MedGen; C3806917.
DR MeSH; D003398.
KW KW-0989:Craniosynostosis.
//
ID Craniosynostosis 5.
AC DI-03953
AR CRS5.
DE A primary abnormality of skull growth involving premature fusion of
DE one or more cranial sutures. The growth velocity of the skull often
DE cannot match that of the developing brain resulting in an abnormal
DE head shape and, in some cases, increased intracranial pressure, which
DE must be treated promptly to avoid permanent neurodevelopmental
DE disability.
DR MIM; 615529; phenotype.
DR MedGen; C3809819.
DR MedGen; CN181759.
DR MeSH; D003398.
KW KW-0989:Craniosynostosis.
//
ID Craniosynostosis 6.
AC DI-04561
AR CRS6.
DE A form of craniosynostosis, a primary abnormality of skull growth
DE involving premature fusion of one or more cranial sutures. The growth
DE velocity of the skull often cannot match that of the developing brain
DE resulting in an abnormal head shape and, in some cases, increased
DE intracranial pressure, which must be treated promptly to avoid
DE permanent neurodevelopmental disability.
DR MIM; 616602; phenotype.
DR MedGen; CN233152.
DR MeSH; D003398.
KW KW-0989:Craniosynostosis.
//
ID Craniosynostosis 7.
AC DI-04994
AR CRS7.
DE A form of craniosynostosis, a primary abnormality of skull growth
DE involving premature fusion of one or more cranial sutures. The growth
DE velocity of the skull often cannot match that of the developing brain
DE resulting in an abnormal head shape and, in some cases, increased
DE intracranial pressure, which must be treated promptly to avoid
DE permanent neurodevelopmental disability.
SY Craniosynostosis 7, digenic.
DR MIM; 617439; phenotype.
DR MedGen; CN242220.
DR MeSH; D003398.
KW KW-0989:Craniosynostosis.
//
ID Craniosynostosis and dental anomalies.
AC DI-03259
AR CRSDA.
DE A disorder characterized by craniosynostosis, maxillary hypoplasia,
DE and dental anomalies, including malocclusion, delayed and ectopic
DE tooth eruption, and/or supernumerary teeth. Some patients also display
DE minor digit anomalies, such as syndactyly and/or clinodactyly.
SY Kreiborg-Pakistani syndrome.
DR MIM; 614188; phenotype.
DR MedGen; C3280073.
DR MeSH; D003398.
KW KW-0989:Craniosynostosis.
//
ID Craniotubular dysplasia, Ikegawa type.
AC DI-06325
AR CTDI.
DE An autosomal recessive, sclerosing bone disorder characterized by
DE proportional or short-limbed short stature in association with
DE macrocephaly, dolichocephaly, or prominent forehead. Radiography shows
DE hyperostosis of the calvaria and skull base, with metadiaphyseal
DE undermodeling of the long tubular bones and mild shortening and
DE diaphyseal broadening of the short tubular bones. Affected individuals
DE experience progressive vision loss in the first decade of life due to
DE optic nerve compression, and deafness may develop in the second decade
DE of life.
DR MIM; 619727; phenotype.
DR MedGen; CN306204.
DR MeSH; D001847.
KW KW-0242:Dwarfism.
//
ID Creutzfeldt-Jakob disease.
AC DI-01448
AR CJD.
DE Occurs primarily as a sporadic disorder (1 per million), while 10-15%
DE are familial. Accidental transmission of CJD to humans appears to be
DE iatrogenic (contaminated human growth hormone (HGH), corneal
DE transplantation, electroencephalographic electrode implantation,
DE etc.). Epidemiologic studies have failed to implicate the ingestion of
DE infected animal meat in the pathogenesis of CJD in human. The triad of
DE microscopic features that characterize the prion diseases consists of
DE (1) spongiform degeneration of neurons, (2) severe astrocytic gliosis
DE that often appears to be out of proportion to the degree of nerve cell
DE loss, and (3) amyloid plaque formation. CJD is characterized by
DE progressive dementia and myoclonic seizures, affecting adults in mid-
DE life. Some patients present sleep disorders, abnormalities of high
DE cortical function, cerebellar and corticospinal disturbances. The
DE disease ends in death after a 3-12 months illness.
DR MIM; 123400; phenotype.
DR MedGen; C0022336.
DR MedGen; C0376329.
DR MedGen; C0751254.
DR MedGen; C1852467.
DR MedGen; C1969957.
//
ID Crigler-Najjar syndrome 1.
AC DI-01449
AR CN1.
DE Patients have severe hyperbilirubinemia and usually die of kernicterus
DE (bilirubin accumulation in the basal ganglia and brainstem nuclei)
DE within the first year of life. CN1 inheritance is autosomal recessive.
SY CN-I.
SY Crigler-Najjar syndrome type I.
DR MIM; 218800; phenotype.
DR MedGen; C0010324.
//
ID Crigler-Najjar syndrome 2.
AC DI-01450
AR CN2.
DE Patients have less severe hyperbilirubinemia and usually survive into
DE adulthood without neurologic damage. Phenobarbital, which induces the
DE partially deficient glucuronyl transferase, can diminish the jaundice.
DE CN2 inheritance is autosomal dominant.
SY CN-II.
SY Crigler-Najjar syndrome type II.
DR MIM; 606785; phenotype.
DR MedGen; C0268311.
DR MedGen; C2931132.
//
ID Crisponi/Cold-induced sweating syndrome 1.
AC DI-01356
AR CISS1.
DE An autosomal recessive disorder characterized by profuse sweating
DE induced by cool surroundings (temperatures of 7 to 18 degrees
DE Celsius). Patients manifest, in the neonatal period, orofacial
DE weakness with impaired sucking and swallowing, resulting in poor
DE feeding. Affected infants show a tendency to startle, with
DE contractions of the facial muscles in response to tactile stimuli or
DE during crying, trismus, abundant salivation, and opisthotonus. These
DE features are referred to as Crisponi syndrome and can result in early
DE death in infancy. Patients who survive into childhood have
DE hyperhidrosis, mainly of the upper body, in response to cold
DE temperatures, and sweat very little with heat. Additional
DE abnormalities include a high-arched palate, nasal voice, depressed
DE nasal bridge, inability to fully extend the elbows and kyphoscoliosis.
SY Crisponi syndrome.
SY Muscle contractions tetanoform with characteristic face camptodactyly hyperthermia and sudden death.
SY Sohar-Crisponi syndrome.
DR MIM; 272430; phenotype.
DR MedGen; C1832409.
DR MedGen; C1848947.
DR MeSH; D000015.
DR MeSH; D006945.
//
ID Crisponi/Cold-induced sweating syndrome 2.
AC DI-01357
AR CISS2.
DE An autosomal recessive disorder characterized by profuse sweating
DE induced by cool surroundings (temperatures of 7 to 18 degrees
DE Celsius). Patients manifest, in the neonatal period, orofacial
DE weakness with impaired sucking and swallowing, resulting in poor
DE feeding. Affected infants show a tendency to startle, with
DE contractions of the facial muscles in response to tactile stimuli or
DE during crying, trismus, abundant salivation, and opisthotonus. These
DE features are referred to as Crisponi syndrome and can result in early
DE death in infancy. Patients who survive into childhood have
DE hyperhidrosis, mainly of the upper body, in response to cold
DE temperatures, and sweat very little with heat. Additional
DE abnormalities include a high-arched palate, nasal voice, depressed
DE nasal bridge, inability to fully extend the elbows and kyphoscoliosis.
DR MIM; 610313; phenotype.
DR MedGen; C1853198.
DR MeSH; D000015.
DR MeSH; D006945.
//
ID Crouzon syndrome.
AC DI-00383
AR CS.
DE An autosomal dominant syndrome characterized by craniosynostosis,
DE hypertelorism, exophthalmos and external strabismus, parrot-beaked
DE nose, short upper lip, hypoplastic maxilla, and a relative mandibular
DE prognathism.
SY CFD1.
SY Craniofacial dysostosis type I.
SY Crouzon craniofacial dysostosis.
DR MIM; 123500; phenotype.
DR MedGen; C0010273.
DR MedGen; C2931196.
DR MeSH; D003394.
KW KW-0989:Craniosynostosis.
//
ID Crouzon syndrome with acanthosis nigricans.
AC DI-01453
AR CAN.
DE Classic Crouzon disease which is caused by mutations in the FGFR2 gene
DE is characterized by craniosynostosis (premature fusion of the skull
DE sutures), and facial hypoplasia. Crouzon syndrome with acanthosis
DE nigricans (a skin disorder characterized by pigmentation anomalies),
DE CAN, is considered to be an independent disorder from classic Crouzon
DE syndrome. CAN is characterized by additional more severe physical
DE manifestation, such as Chiari malformation, hydrocephalus, and atresia
DE or stenosis of the choanas, and is caused by a specific mutation (Ala-
DE 391 to Glu) in the transmembrane domain of FGFR3. It is proposed to
DE have an autosomal dominant mode of inheritance.
DR MIM; 612247; phenotype.
DR MedGen; C2677099.
//
ID Cryohydrocytosis.
AC DI-04609
AR CHC.
DE An autosomal dominant disorder of red cell membrane permeability
DE characterized by cold-induced changes in cell volume, resulting in
DE cold-sensitive stomatocytosis, and increased erythrocyte osmotic
DE fragility and autohemolysis at 4 degrees Celsius. Patients present
DE with mild to moderate hemolytic anemia, splenomegaly, fatigue, and
DE pseudohyperkalemia due to a potassium leak from the erythrocytes.
SY Stomatocytosis, cold-sensitive.
DR MIM; 185020; phenotype.
DR MedGen; C1861453.
DR MeSH; D000745.
KW KW-0360:Hereditary hemolytic anemia.
//
ID Cryptophthalmos, unilateral or bilateral, isolated.
AC DI-05544
AR CRYPTOP.
DE An autosomal dominant, rare condition characterized by congenital
DE eyelid malformation with an underlying malformed eye. It can be
DE bilateral or unilateral and is classified into complete (typical),
DE incomplete (atypical) and abortive (congenital symblepharon) forms.
DE The skin of patients with complete cryptophthalmos extends
DE uninterrupted from the forehead to the cheek, whereas incomplete
DE cryptophthalmos exists when there is medial eyelid fusion, but
DE coincident intact lateral structures. The symblepharon variety
DE presents with fusion of the upper eyelid skin to the superior aspect
DE of the globe. The complete variety is the most common form.
SY Ankyloblepharon, simple.
SY cryptophthalmos with microphthalmia and Peters anomaly.
DR MIM; 123570; phenotype.
DR MedGen; C1852453.
DR MeSH; D005124.
DR MeSH; D005141.
//
ID Cryptorchidism.
AC DI-01455
AR CRYPTO.
DE One of the most frequent congenital abnormalities in humans, involving
DE 2-5% of male births. Cryptorchidism is associated with increased risk
DE of infertility and testicular cancer.
SY Impaired testicular descent.
DR MIM; 219050; phenotype.
DR MedGen; C0010417.
//
ID Culler-Jones syndrome.
AC DI-04127
AR CJS.
DE An autosomal dominant disorder characterized by a wide range of
DE clinical manifestations. Clinical features include hypothalamic
DE hamartoma, pituitary dysfunction, central or postaxial polydactyly,
DE and syndactyly. Malformations are frequent in the viscera, e.g. anal
DE atresia, bifid uvula, congenital heart malformations, pulmonary or
DE renal dysplasia.
SY Pallister-Hall syndrome 2.
SY PHS2.
DR MIM; 615849; phenotype.
DR MedGen; CN188939.
DR MeSH; D054975.
//
ID Currarino syndrome.
AC DI-01458
AR CURRAS.
DE The triad of a presacral tumor, sacral agenesis and anorectal
DE malformation constitutes the Currarino syndrome which is caused by
DE dorsal-ventral patterning defects during embryonic development. The
DE syndrome occurs in the majority of patients as an autosomal dominant
DE trait.
DR MIM; 176450; phenotype.
DR MedGen; C1531773.
DR MedGen; C1867774.
DR MedGen; C1867775.
//
ID Curry-Jones syndrome.
AC DI-04790
AR CRJS.
DE A multisystem disorder characterized by patchy skin lesions,
DE polysyndactyly, diverse cerebral malformations, unicoronal
DE craniosynostosis, iris colobomas, microphthalmia, and intestinal
DE malrotation with myofibromas or hamartomas.
SY Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development.
SY Curry Jones syndrome.
DR MIM; 601707; phenotype.
DR MedGen; C0795915.
DR MeSH; D004065.
DR MeSH; D012868.
DR MeSH; D013576.
DR MeSH; D019465.
//
ID Cutaneous telangiectasia and cancer syndrome, familial.
AC DI-03427
AR FCTCS.
DE A disease characterized by cutaneous telangiectases in infancy with
DE patchy alopecia over areas of affected skin, thinning of the lateral
DE eyebrows, and mild dental and nail anomalies. Affected individuals are
DE at increased risk of developing oropharyngeal cancer, and other
DE malignancies have been reported as well.
DR MIM; 614564; phenotype.
DR MedGen; C3281203.
DR MeSH; D009386.
DR MeSH; D013684.
//
ID Cutis laxa, autosomal dominant, 1.
AC DI-01204
AR ADCL1.
DE A connective tissue disorder characterized by loose, hyperextensible
DE skin with decreased resilience and elasticity leading to a premature
DE aged appearance. Face, hands, feet, joints, and torso may be
DE differentially affected. Additional variable clinical features are
DE gastrointestinal diverticula, hernia, and genital prolapse. Rare
DE manifestations are pulmonary artery stenosis, aortic aneurysm,
DE bronchiectasis, and emphysema.
DR MIM; 123700; phenotype.
DR MedGen; C0268350.
DR MedGen; C3276539.
DR MeSH; D003483.
//
ID Cutis laxa, autosomal dominant, 2.
AC DI-03317
AR ADCL2.
DE A connective tissue disorder characterized by loose, hyperextensible
DE skin with decreased resilience and elasticity leading to a premature
DE aged appearance. Face, hands, feet, joints, and torso may be
DE differentially affected. Additional variable clinical features are
DE gastrointestinal diverticula, hernia, and genital prolapse. Rare
DE manifestations are pulmonary artery stenosis, aortic aneurysm,
DE bronchiectasis, and emphysema.
DR MIM; 614434; phenotype.
DR MedGen; C3280794.
DR MeSH; D003483.
//
ID Cutis laxa, autosomal dominant, 3.
AC DI-04558
AR ADCL3.
DE A form of cutis laxa, a connective tissue disorder characterized by
DE loose, hyperextensible skin with decreased resilience and elasticity
DE leading to a premature aged appearance. Face, hands, feet, joints, and
DE torso may be differentially affected. Additional variable clinical
DE features are gastrointestinal diverticula, hernia, and genital
DE prolapse. Rare manifestations are pulmonary artery stenosis, aortic
DE aneurysm, bronchiectasis, and emphysema. ADCL3 patients manifest thin
DE skin with visible veins and wrinkles, cataract or corneal clouding,
DE moderate intellectual disability, muscular hypotonia with brisk muscle
DE reflexes, clenched fingers, and pre- and postnatal growth retardation.
DR MIM; 616603; phenotype.
DR MedGen; CN233153.
DR MeSH; D003483.
//
ID Cutis laxa, autosomal recessive, 1A.
AC DI-01236
AR ARCL1A.
DE A connective tissue disorder characterized by loose, hyperextensible
DE skin with decreased resilience and elasticity leading to a premature
DE aged appearance. Face, hands, feet, joints, and torso may be
DE differentially affected. The clinical spectrum of autosomal recessive
DE cutis laxa is highly heterogeneous with respect to organ involvement
DE and severity. Type I autosomal recessive cutis laxa is a specific,
DE life-threatening disorder with organ involvement, lung atelectasis and
DE emphysema, diverticula of the gastrointestinal and genitourinary
DE systems, and vascular anomalies. Associated cranial anomalies, late
DE closure of the fontanel, joint laxity, hip dislocation, and inguinal
DE hernia have been observed but are uncommon.
SY CL type I.
SY Cutis laxa autosomal recessive type I.
SY Cutis laxa autosomal recessive type IA.
DR MIM; 219100; phenotype.
DR MedGen; C0268351.
DR MedGen; CN033664.
DR MeSH; D003483.
//
ID Cutis laxa, autosomal recessive, 1B.
AC DI-03318
AR ARCL1B.
DE A connective tissue disorder characterized by loose, hyperextensible
DE skin with decreased resilience and elasticity leading to a premature
DE aged appearance. Face, hands, feet, joints, and torso may be
DE differentially affected. The clinical spectrum of autosomal recessive
DE cutis laxa is highly heterogeneous with respect to organ involvement
DE and severity. ARCL1B features include emphysema, lethal pulmonary
DE artery occlusion, aortic aneurysm, cardiopulmonary insufficiency,
DE birth fractures, arachnodactyly, and fragility of blood vessels.
SY Cutis laxa autosomal recessive type IB.
DR MIM; 614437; phenotype.
DR MedGen; C3280798.
DR MedGen; CN120647.
DR MeSH; D003483.
//
ID Cutis laxa, autosomal recessive, 2A.
AC DI-01461
AR ARCL2A.
DE A disorder characterized by an excessive congenital skin wrinkling, a
DE large fontanelle with delayed closure, a typical facial appearance
DE with downslanting palpebral fissures, a general connective tissue
DE weakness, and varying degrees of growth and developmental delay and
DE neurological abnormalities. Some affected individuals develop seizures
DE and mental deterioration later in life, whereas the skin phenotype
DE tends to become milder with age. At the molecular level, an abnormal
DE glycosylation of serum proteins is observed in many cases.
SY ARCL2.
SY CL type IIA.
SY Cutis laxa, Debre type.
SY Cutis laxa autosomal recessive type IIA.
SY Cutis laxa with bone dystrophy.
SY Cutis laxa with congenital disorder of glycosylation.
SY Cutis laxa with growth and developmental delay.
SY Cutis laxa with joint laxity and retarded development.
DR MIM; 219200; phenotype.
DR MedGen; C0268355.
DR MeSH; D003483.
//
ID Cutis laxa, autosomal recessive, 2B.
AC DI-01462
AR ARCL2B.
DE A disorder characterized by an excessive congenital skin wrinkling, a
DE large fontanelle with delayed closure, a typical facial appearance
DE with downslanting palpebral fissures, a general connective tissue
DE weakness, and varying degrees of growth and developmental delay and
DE neurological abnormalities. Patients do not manifest metabolic
DE abnormalities.
SY CL type IIB.
SY Cutis laxa autosomal recessive type IIB.
SY Cutis laxa with progeroid features.
DR MIM; 612940; phenotype.
DR MedGen; C2751987.
DR MeSH; D003483.
//
ID Cutis laxa, autosomal recessive, 2C.
AC DI-04974
AR ARCL2C.
DE A form of cutis laxa, a disorder characterized by an excessive
DE congenital skin wrinkling, a large fontanelle with delayed closure, a
DE typical facial appearance with downslanting palpebral fissures, and a
DE general connective tissue weakness. Most ARCL2C patients exhibit
DE severe hypotonia as well as cardiovascular involvement.
SY Cutis laxa autosomal recessive, type IIC.
DR MIM; 617402; phenotype.
DR MedGen; CN241832.
DR MeSH; D003483.
//
ID Cutis laxa, autosomal recessive, 2D.
AC DI-04975
AR ARCL2D.
DE A form of cutis laxa, a disorder characterized by an excessive
DE congenital skin wrinkling, a large fontanelle with delayed closure, a
DE typical facial appearance with downslanting palpebral fissures, and a
DE general connective tissue weakness. Most ARCL2D patients exhibit
DE severe hypotonia as well as cardiovascular and neurologic involvement.
SY Cutis laxa, autosomal recessive, type IID.
DR MIM; 617403; phenotype.
DR MedGen; CN241828.
DR MeSH; D003483.
//
ID Cutis laxa, autosomal recessive, 2E.
AC DI-06173
AR ARCL2E.
DE A form of cutis laxa, a disorder characterized by an excessive
DE congenital skin wrinkling, a large fontanelle with delayed closure, a
DE typical facial appearance with downslanting palpebral fissures, and a
DE general connective tissue weakness. ARCL2E patients present with cutis
DE laxa, inguinal hernia, craniofacial dysmorphology, variable heart
DE defects, and prominent skeletal features including craniosynostosis,
DE short stature, brachydactyly, and syndactyly.
SY Cutis laxa, autosomal recessive, type IIE.
DR MIM; 619451; phenotype.
DR MedGen; CN300064.
DR MeSH; D003483.
//
ID Cutis laxa, autosomal recessive, 3A.
AC DI-03310
AR ARCL3A.
DE A syndrome characterized by facial dysmorphism with a progeroid
DE appearance, large and late-closing fontanel, cutis laxa, joint
DE hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal
DE growth retardation, intellectual deficit, developmental delay, and
DE ophthalmologic abnormalities.
SY Cutis laxa autosomal recessive type IIIA.
SY De Barsy syndrome.
SY De Barsy syndrome A.
SY Developmental delay-choreoathetosis-joint dislocation-lax skin.
SY Neurocutaneous syndrome Bicknell type.
SY Progeroid syndrome of De Barsy.
DR MIM; 219150; phenotype.
DR MedGen; C0268354.
DR MeSH; D003318.
DR MeSH; D003483.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Cutis laxa, autosomal recessive, 3B.
AC DI-03319
AR ARCL3B.
DE A disorder characterized by an aged appearance with distinctive facial
DE features, sparse hair, ophthalmologic abnormalities, intrauterine
DE growth retardation, and cutis laxa.
SY Cutis laxa autosomal recessive type IIIB.
SY De Barsy syndrome B.
DR MIM; 614438; phenotype.
DR MedGen; C3280799.
DR MedGen; CN120648.
DR MeSH; D003483.
//
ID Cyanosis transient neonatal.
AC DI-03171
AR TNCY.
DE A disorder characterized by cyanosis in the fetus and neonate, due to
DE a defect in the fetal hemoglobin chain which has reduced affinity for
DE oxygen. Some patients develop anemia resulting from increased
DE destruction of red cells containing abnormal or unstable hemoglobin.
DE The cyanosis resolves spontaneously by 5 to 6 months of age or
DE earlier, as the adult beta-globin chain is produced and replaces the
DE fetal gamma-globin chain.
DR MIM; 613977; phenotype.
DR MedGen; C3151421.
DR MeSH; D003490.
//
ID Cyclic haematopoiesis.
AC DI-01463
AR CH.
DE Autosomal dominant disease in which blood-cell production from the
DE bone marrow oscillates with 21-day periodicity. Circulating
DE neutrophils vary between almost normal numbers and zero. During
DE intervals of neutropenia, affected individuals are at risk for
DE opportunistic infection. Monocytes, platelets, lymphocytes and
DE reticulocytes also cycle with the same frequency.
SY Cyclic neutropenia.
DR MIM; 162800; phenotype.
DR MedGen; C0221023.
DR MeSH; D009503.
//
ID Cylindromatosis, familial.
AC DI-01564
AR FCYL.
DE A disorder characterized by multiple skin tumors that develop from
DE skin appendages, such as hair follicles and sweat glands. Affected
DE individuals typically develop large numbers of tumors called
DE cylindromas that arise predominantly in hairy parts of the body with
DE approximately 90% on the head and neck. In severely affected
DE individuals, cylindromas may combine into a confluent mass which may
DE ulcerate or become infected (turban tumor syndrome). Individuals with
DE familial cylindromatosis occasionally develop other types of tumors
DE including spiradenomas that begin in sweat glands, and
DE trichoepitheliomas arising from hair follicles.
SY Ancell-Spiegler cylindromas.
SY Dermal eccrine cylindromatosis.
SY Turban tumor syndrome.
DR MIM; 132700; phenotype.
DR MedGen; C1305968.
DR MedGen; C1851526.
DR MeSH; D009386.
DR MeSH; D012878.
//
ID Cystathionine beta-synthase deficiency.
AC DI-01464
AR CBSD.
DE An enzymatic deficiency resulting in altered sulfur metabolism and
DE homocystinuria. The clinical features of untreated homocystinuria due
DE to CBS deficiency include myopia, ectopia lentis, intellectual
DE disability, skeletal anomalies resembling Marfan syndrome, and
DE thromboembolic events. Light skin and hair can also be present.
DE Biochemical features include increased urinary homocystine and
DE methionine.
SY CBS deficiency.
SY Homocystinuria due to cystathionine beta-synthase deficiency.
SY Homocystinuria with or without response to pyridoxine.
SY Hyperhomocysteinemia thrombotic CBS-related.
DR MIM; 236200; phenotype.
DR MedGen; C3150344.
DR MeSH; D006712.
//
ID Cystathioninuria.
AC DI-01465
AR CSTNU.
DE Autosomal recessive phenotype characterized by abnormal accumulation
DE of plasma cystathionine, leading to increased urinary excretion.
SY Cystathionase deficiency.
DR MIM; 219500; phenotype.
DR MedGen; C0220993.
DR MedGen; C0268616.
DR MedGen; C3495552.
DR MeSH; D020138.
//
ID Cystic fibrosis.
AC DI-01466
AR CF.
DE A common generalized disorder of the exocrine glands which impairs
DE clearance of secretions in a variety of organs. It is characterized by
DE the triad of chronic bronchopulmonary disease (with recurrent
DE respiratory infections), pancreatic insufficiency (which leads to
DE malabsorption and growth retardation) and elevated sweat electrolytes.
DE It is the most common genetic disease in Caucasians, with a prevalence
DE of about 1 in 2'000 live births. Inheritance is autosomal recessive.
SY Mucoviscidosis.
DR MIM; 219700; phenotype.
DR MedGen; C0010674.
DR MeSH; D003550.
//
ID Cystinosis, adult, non-nephropathic type.
AC DI-02893
AR CTNSANN.
DE A form of cystinosis, a lysosomal storage disease due to defective
DE transport of cystine across the lysosomal membrane. This results in
DE cystine accumulation and crystallization in the cells causing
DE widespread tissue damage. Cystinosis adult non-nephropathic type is
DE characterized by ocular features and a benign course. Patients
DE manifest mild photophobia due to conjunctival and corneal cystine
DE crystals.
SY Cystinosis adult nonnephropathic.
SY Cystinosis benign nonnephropathic.
SY Cystinosis ocular nonnephropathic.
DR MIM; 219750; phenotype.
DR MedGen; C1857413.
DR MedGen; C2931013.
DR MeSH; D003554.
//
ID Cystinosis, late-onset juvenile or adolescent nephropathic type.
AC DI-02894
AR CTNSJAN.
DE A form of cystinosis, a lysosomal storage disease due to defective
DE transport of cystine across the lysosomal membrane. This results in
DE cystine accumulation and crystallization in the cells causing
DE widespread tissue damage. Late-onset juvenile or adolescent
DE nephropathic cystinosis is an intermediated form, manifesting first at
DE age 10 to 12 years with proteinuria due to glomerular damage rather
DE than with the manifestations of tubular damage that occur first in
DE infantile cystinosis. There is no excess amino aciduria and stature is
DE normal. Photophobia, late development of pigmentary retinopathy, and
DE chronic headaches are features.
SY Cystinosis intermediate.
DR MIM; 219900; phenotype.
DR MedGen; C0268626.
DR MeSH; D003554.
//
ID Cystinosis, nephropathic type.
AC DI-01467
AR CTNS.
DE A form of cystinosis, a lysosomal storage disease due to defective
DE transport of cystine across the lysosomal membrane. This results in
DE cystine accumulation and crystallization in the cells causing
DE widespread tissue damage. The classical nephropathic form has onset in
DE the first year of life and is characterized by a polyuro-polydipsic
DE syndrome, marked height-weight growth delay, generalized impaired
DE proximal tubular reabsorptive capacity, with severe fluid-electrolyte
DE balance alterations, renal failure, ocular symptoms and other systemic
DE complications.
SY Cystinosis atypical nephropathic.
SY Cystinosis infantile nephropathic.
SY Defect of cystinosin.
SY Defect of lysosomal cystine transport protein.
DR MIM; 219800; phenotype.
DR MedGen; C0010690.
DR MedGen; C2749685.
DR MedGen; C2931187.
DR MedGen; C3537440.
DR MeSH; D003554.
//
ID Cystinuria.
AC DI-01468
AR CSNU.
DE An autosomal disorder characterized by impaired epithelial cell
DE transport of cystine and dibasic amino acids (lysine, ornithine, and
DE arginine) in the proximal renal tubule and gastrointestinal tract. The
DE impaired renal reabsorption of cystine and its low solubility causes
DE the formation of calculi in the urinary tract, resulting in
DE obstructive uropathy, pyelonephritis, and, rarely, renal failure.
SY CSNU1.
SY CSNU3.
SY Cystinuria 1.
SY Cystinuria type A.
SY Cystinuria type A/B.
SY Cystinuria type B.
SY Cystinuria type I.
SY Cystinuria type II.
SY Cystinuria type III.
SY Cystinuria type non-I.
DR MIM; 220100; phenotype.
DR MedGen; C0010691.
DR MedGen; C1857388.
DR MedGen; C1857389.
DR MedGen; C1857390.
DR MeSH; D003555.
KW KW-0199:Cystinuria.
//
ID Czech dysplasia.
AC DI-03158
AR CZECHD.
DE A skeletal dysplasia characterized by early-onset, progressive
DE pseudorheumatoid arthritis, platyspondyly, and short third and fourth
DE toes.
SY Czech dysplasia metatarsal type.
SY Pseudorheumatoid dysplasia progressive with hypoplastic toes.
SY Spondyloepiphyseal dysplasia with precocious osteoarthritis.
DR MIM; 609162; phenotype.
DR MedGen; C1836683.
DR MeSH; D010009.
//
ID D-2-hydroxyglutaric aciduria 1.
AC DI-00384
AR D2HGA1.
DE A rare recessive neurometabolic disorder causing developmental delay,
DE epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe
DE phenotype exist. The severe phenotype is homogeneous and is
DE characterized by early infantile-onset epileptic encephalopathy and
DE cardiomyopathy. The mild phenotype has a more variable clinical
DE presentation. Diagnosis is based on the presence of an excess of D-2-
DE hydroxyglutaric acid in the urine.
SY D2HA.
DR MIM; 600721; phenotype.
DR MedGen; C1833429.
DR MedGen; C3152055.
DR MeSH; D020739.
//
ID D-2-hydroxyglutaric aciduria 2.
AC DI-02980
AR D2HGA2.
DE A neurometabolic disorder causing developmental delay, epilepsy,
DE hypotonia, and dysmorphic features. Both a mild and a severe phenotype
DE exist. The severe phenotype is homogeneous and is characterized by
DE early infantile-onset epileptic encephalopathy and cardiomyopathy. The
DE mild phenotype has a more variable clinical presentation. Diagnosis is
DE based on the presence of an excess of D-2-hydroxyglutaric acid in the
DE urine.
DR MIM; 613657; phenotype.
DR MedGen; C3150909.
DR MeSH; D020739.
//
ID D-bifunctional protein deficiency.
AC DI-01471
AR DBPD.
DE Disorder of peroxisomal fatty acid beta-oxidation.
DR MIM; 261515; phenotype.
DR MedGen; C0342870.
//
ID D-glyceric aciduria.
AC DI-03131
AR D-GA.
DE A rare metabolic disease characterized by chronic metabolic acidosis
DE and a highly variable clinical phenotype. Clinical features range from
DE an encephalopathic presentation with seizures, microcephaly, severe
DE intellectual disability and early death, to milder manifestations with
DE only speech delay or even normal development.
SY D-glyceric acidemia.
SY Glycerate kinase deficiency.
DR MIM; 220120; phenotype.
DR MedGen; C0342765.
DR MedGen; C1291386.
DR MeSH; D008661.
//
ID D-lactic aciduria with gout.
AC DI-05545
AR DLACD.
DE An autosomal recessive metabolic disorder characterized by D-lactic
DE aciduria in the presence of normal plasma lactic acid.
DR MIM; 245450; phenotype.
DR MedGen; C1855552.
DR MeSH; D008661.
//
ID Danon disease.
AC DI-00385
AR DAND.
DE DAND is a lysosomal glycogen storage disease characterized by the
DE clinical triad of cardiomyopathy, vacuolar myopathy and intellectual
DE disability. It is often associated with an accumulation of glycogen in
DE muscle and lysosomes.
SY Glycogen storage disease IIb.
SY GSD2B.
SY GSD-IIb.
SY Lysosomal glycogen storage disease without acid maltase deficiency.
SY Pseudoglycogenosis II.
SY Vacuolar cardiomyopathy and myopathy X-linked.
DR MIM; 300257; phenotype.
DR MedGen; C0878677.
DR MeSH; D052120.
KW KW-0322:Glycogen storage disease.
//
ID Darier disease.
AC DI-01473
AR DD.
DE A skin disorder characterized by warty papules and plaques in
DE seborrheic areas (central trunk, flexures, scalp and forehead),
DE palmoplantar pits and distinctive nail abnormalities. It is due to
DE loss of adhesion between epidermal cells (acantholysis) and abnormal
DE keratinization. Patients with mild disease may have no more than a few
DE scattered keratotic papules or subtle nail changes, whereas those with
DE severe disease are handicapped by widespread malodorous keratotic
DE plaques. Some patients present with hemorrhage into acantholytic
DE vesicles on the palms and dorsal aspects of the fingers which gives
DE rise to black macules. In a few families affected by Darier disease,
DE neuropsychiatric abnormalities such as mild intellectual disability,
DE schizophrenia, bipolar disorder and epilepsy have been reported.
DE Stress, UV exposure, heat, sweat, friction and oral contraception
DE exacerbate disease symptoms. Clinical variants of Darier disease
DE include hypertrophic, vesicobullous, hypopigmented, cornifying,
DE zosteriform or linear, acute and comedonal subtypes. Comedonal Darier
DE disease is characterized by the coexistence of acne-like comedonal
DE lesions with typical Darier hyperkeratotic papules on light-exposed
DE areas. At histopathologic level, comedonal Darier disease differs from
DE classic Darier disease in the prominent follicular involvement and the
DE presence of greatly elongated dermal villi.
SY DAR.
SY Darier disease acral hemorrhagic type.
SY Darier disease segmental.
SY Darier-White disease.
SY Keratosis follicularis.
DR MIM; 124200; phenotype.
DR MedGen; C0022595.
DR MedGen; C1852296.
DR MedGen; C1852297.
DR MeSH; D007644.
//
ID De Sanctis-Cacchione syndrome.
AC DI-00389
AR DSC.
DE An autosomal recessive syndrome consisting of xeroderma pigmentosum
DE associated with severe neurological and developmental involvement. In
DE addition to the clinical signs of xeroderma pigmentosum, patients
DE present with intellectual disability, dwarfism, gonadal hypoplasia,
DE microcephaly and various neurologic complications of early onset.
SY Xerodermic idiocy.
SY Xerodermic idiocy of de Sanctis and Cacchione.
DR MIM; 278800; phenotype.
DR MedGen; C0265201.
DR MeSH; D008607.
DR MeSH; D014983.
KW KW-0242:Dwarfism.
KW KW-0857:Xeroderma pigmentosum.
KW KW-0991:Intellectual disability.
//
ID Deafness and myopia.
AC DI-03969
AR DFNMYP.
DE An autosomal recessive disorder characterized by prelingual
DE sensorineural hearing loss associated with high myopia.
DR MIM; 221200; phenotype.
DR MedGen; C1857342.
DR MeSH; D006319.
KW KW-0209:Deafness.
//
ID Deafness with labyrinthine aplasia, microtia and microdontia.
AC DI-01475
AR LAMM.
DE Unique autosomal recessive syndrome characterized by type I microtia,
DE microdontia, and profound congenital deafness associated with a
DE complete absence of inner ear structures (Michel aplasia).
SY Congenital deafness with inner ear agenesis, microtia and microdontia.
DR MIM; 610706; phenotype.
DR MedGen; C1853144.
//
ID Deafness, aminoglycoside-induced.
AC DI-05233
AR DFNI.
DE A form of sensorineural deafness characterized by moderate-to-profound
DE hearing loss and mitochondrial inheritance. It is induced by exposure
DE to aminoglycosides.
SY Deafness, streptomycin-induced.
SY Streptomycin ototoxicity.
DR MIM; 580000; phenotype.
DR MedGen; C1838854.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant 1, with or without thrombocytopenia.
AC DI-00831
AR DFNA1.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information. Patients may have mild thrombocytopenia
DE and enlarged platelets, although most of DFNA1 affected individuals do
DE not have significant bleeding tendencies.
SY Hereditary low-frequency hearing loss.
SY Hereditary low-frequency sensorineural hearing loss.
SY Konigsmark syndrome.
SY LFHL1.
SY LFSNHL1.
SY Non-syndromic neurosensory deafness autosomal dominant type 1.
SY Non-syndromic sensorineural deafness autosomal dominant type 1.
DR MIM; 124900; phenotype.
DR MedGen; C1852282.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy.
AC DI-01013
AR DFNHCM.
DE An autosomal dominant sensorineural deafness associated with
DE hypertrophic cardiomyopathy.
DR MIM; 606346; phenotype.
DR MedGen; C3149009.
DR MeSH; D002312.
DR MeSH; D006319.
KW KW-0122:Cardiomyopathy.
KW KW-0209:Deafness.
//
ID Deafness, autosomal dominant, 10.
AC DI-00840
AR DFNA10.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
SY Non-syndromic neurosensory deafness autosomal dominant type 10.
SY Non-syndromic sensorineural deafness autosomal dominant type 10.
DR MIM; 601316; phenotype.
DR MedGen; C1832476.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 11.
AC DI-00841
AR DFNA11.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information. DFNA11 is characterized by onset after
DE complete speech acquisition and subsequent gradual progression.
SY Non-syndromic sensorineural deafness autosomal dominant type 11.
DR MIM; 601317; phenotype.
DR MedGen; C1832475.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 12.
AC DI-00842
AR DFNA12.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
SY Deafness autosomal dominant 8.
SY DFNA8.
SY Non-syndromic sensorineural deafness autosomal dominant type 12.
DR MIM; 601543; phenotype.
DR MedGen; C1832187.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 13.
AC DI-00843
AR DFNA13.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
SY Non-syndromic neurosensory deafness autosomal dominant type 13.
SY Non-syndromic sensorineural deafness autosomal dominant type 13.
DR MIM; 601868; phenotype.
DR MedGen; C1866095.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 15.
AC DI-00844
AR DFNA15.
DE A form of non-syndromic hearing loss with variable phenotype in terms
DE of age at onset, levels of progression, and shape of audiograms.
DR MIM; 602459; phenotype.
DR MedGen; C1865366.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 17.
AC DI-00845
AR DFNA17.
DE A form of deafness characterized by progressive high frequency hearing
DE impairment and cochleosaccular degeneration.
SY cochleosaccular degeneration.
DR MIM; 603622; phenotype.
DR MedGen; C1863659.
DR MedGen; C1863660.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 20.
AC DI-00846
AR DFNA20.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
SY Deafness autosomal dominant 26.
SY DFNA26.
SY Non-syndromic neurosensory deafness autosomal dominant type 20.
SY Non-syndromic sensorineural deafness autosomal dominant type 20.
DR MIM; 604717; phenotype.
DR MedGen; C1858172.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 22.
AC DI-00847
AR DFNA22.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information. DFNA22 is progressive and postlingual,
DE with onset during childhood. By the age of approximately 50 years,
DE affected individuals invariably have profound sensorineural deafness.
SY Non-syndromic neurosensory deafness autosomal dominant type 22.
SY Non-syndromic sensorineural deafness autosomal dominant type 22.
DR MIM; 606346; phenotype.
DR MedGen; C1853441.
DR MedGen; C2931767.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 23.
AC DI-01205
AR DFNA23.
DE A form of non-syndromic deafness characterized by prelingual,
DE bilateral, symmetric hearing loss with a conductive component present
DE in some but not all patients.
DR MIM; 605192; phenotype.
DR MedGen; C1854594.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 25.
AC DI-00848
AR DFNA25.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information. DFNA25 expression is variable in terms of
DE onset and rate of progression, with an age-dependent penetrance
DE resembling an early-onset presbycusis, or senile deafness, a
DE progressive bilateral loss of hearing that occurs in the aged.
SY Non-syndromic neurosensory deafness autosomal dominant type 25.
SY Non-syndromic sensorineural deafness autosomal dominant type 25.
DR MIM; 605583; phenotype.
DR MedGen; C1854158.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 27.
AC DI-05689
AR DFNA27.
DE A form of non-syndromic deafness characterized by postlingual,
DE progressive, moderate to profound sensorineural hearing loss.
DR MIM; 612431; phenotype.
DR MedGen; C3887929.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 28.
AC DI-00849
AR DFNA28.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information. DFNA28 is characterized by mild to
DE moderate hearing loss across most frequencies that progresses to
DE severe loss in the higher frequencies by the fifth decade.
SY Non-syndromic neurosensory deafness autosomal dominant type 28.
SY Non-syndromic sensorineural deafness autosomal dominant type 28.
DR MIM; 608641; phenotype.
DR MedGen; C1837640.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 2A.
AC DI-00832
AR DFNA2A.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
SY Non-syndromic neurosensory deafness autosomal dominant type 2A.
SY Non-syndromic sensorineural deafness autosomal dominant type 2A.
DR MIM; 600101; phenotype.
DR MedGen; C2677637.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 2B.
AC DI-00833
AR DFNA2B.
DE A form of non-syndromic sensorineural deafness characterized by
DE progressive high frequency hearing loss in adulthood, with milder
DE expression in females.
DR MIM; 612644; phenotype.
DR MedGen; C2675236.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 34, with or without inflammation.
AC DI-05146
AR DFNA34.
DE A form of sensorineural hearing loss. Sensorineural deafness results
DE from damage to the neural receptors of the inner ear, the nerve
DE pathways to the brain, or the area of the brain that receives sound
DE information. DFNA34 is a postlingual, slowly progressive form with
DE variable severity and variable additional features. Some DFNA34
DE patients have autoinflammatory manifestations.
DR MIM; 617772; phenotype.
DR MedGen; CN653906.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 36.
AC DI-00850
AR DFNA36.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information. DFNA36 is a bilateral hearing loss, and
DE begins at 5-10 years of age. It progresses to profound deafness within
DE 10-15 years.
SY Non-syndromic neurosensory deafness autosomal dominant type 36.
SY Non-syndromic sensorineural deafness autosomal dominant type 36.
DR MIM; 606705; phenotype.
DR MedGen; C1847626.
DR MedGen; C3502293.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 37.
AC DI-05635
AR DFNA37.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information. DFNA37 is a slowly progressive,
DE postlingual form.
DR MIM; 618533; phenotype.
DR MedGen; CN262182.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1.
AC DI-01206
AR DFNA39/DGI1.
DE A disorder characterized by the association of progressive
DE sensorineural high-frequency hearing loss with dentinogenesis
DE imperfecta.
SY DFNA39/dentinogenesis imperfecta 1 syndrome.
SY DFNA39/DGI1 syndrome.
SY DGI1/DFNA39 syndrome.
DR MIM; 605594; phenotype.
DR MedGen; C1854146.
DR MeSH; D003811.
DR MeSH; D006319.
KW KW-0209:Deafness.
//
ID Deafness, autosomal dominant, 3A.
AC DI-00834
AR DFNA3A.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
SY Non-syndromic neurosensory deafness autosomal dominant type 3A.
SY Non-syndromic sensorineural deafness autosomal dominant type 3A.
DR MIM; 601544; phenotype.
DR MedGen; C2675750.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 3B.
AC DI-00835
AR DFNA3B.
DE A form of non-syndromic sensorineural hearing loss characterized by a
DE variable phenotype, ranging from bilateral middle to high frequency
DE hearing loss to profound sensorineural deafness. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
SY Non-syndromic neurosensory deafness autosomal dominant type 3B.
SY Non-syndromic sensorineural deafness autosomal dominant type 3B.
DR MIM; 612643; phenotype.
DR MedGen; C2675237.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 40.
AC DI-04417
AR DFNA40.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
DR MIM; 616357; phenotype.
DR MedGen; CN230313.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 41.
AC DI-03966
AR DFNA41.
DE A form of non-syndromic deafness characterized by onset of progressive
DE sensorineural hearing loss usually in the second decade. The hearing
DE loss is severe and ultimately affects all frequencies. Exposure to
DE noise exacerbates the hearing loss, particularly at high frequencies.
DR MIM; 608224; phenotype.
DR MedGen; C1842371.
DR MeSH; D003638.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 44.
AC DI-01220
AR DFNA44.
DE A form of non-syndromic deafness characterized by initially moderate
DE hearing loss that affects mainly low to mid frequencies. Later, it
DE progresses to involve all the frequencies and leads to a profound
DE hearing loss by the 6th decade.
DR MIM; 607453; phenotype.
DR MedGen; C1843895.
DR MeSH; D003638.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 48.
AC DI-00851
AR DFNA48.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
SY Deafness autosomal dominant due to mutation in MYO1A.
SY Non-syndromic neurosensory deafness autosomal dominant type 48.
SY Non-syndromic sensorineural deafness autosomal dominant type 48.
DR MIM; 607841; phenotype.
DR MedGen; C1842939.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 4A.
AC DI-00836
AR DFNA4A.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
SY Deafness autosomal dominant 4.
SY DFNA4.
SY Non-syndromic neurosensory deafness autosomal dominant type 4.
SY Non-syndromic sensorineural deafness autosomal dominant type 4.
DR MIM; 600652; phenotype.
DR MedGen; C1833503.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 4B.
AC DI-03419
AR DFNA4B.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
DR MIM; 614614; phenotype.
DR MedGen; C3281297.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 5.
AC DI-00837
AR DFNA5.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
SY Non-syndromic neurosensory deafness autosomal dominant type 5.
SY Non-syndromic sensorineural deafness autosomal dominant type 5.
DR MIM; 600994; phenotype.
DR MedGen; C1832932.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 56.
AC DI-04030
AR DFNA56.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information. DFNA56 is characterized by progressive
DE hearing impairment with postlingual onset.
DR MIM; 615629; phenotype.
DR MedGen; C3810170.
DR MedGen; CN184361.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 6.
AC DI-00838
AR DFNA6.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information. DFNA6 is a low-frequency hearing loss in
DE which frequencies of 2000 Hz and below are predominantly affected.
DE Many patients have tinnitus, but there are otherwise no associated
DE features such as vertigo. Because high-frequency hearing is generally
DE preserved, patients retain excellent understanding of speech, although
DE presbycusis or noise exposure may cause high-frequency loss later in
DE life. DFNA6 worsens over time without progressing to profound
DE deafness.
SY Deafness autosomal dominant 14.
SY Deafness autosomal dominant 38.
SY DFNA14.
SY DFNA38.
SY Non-syndromic neurosensory deafness autosomal dominant type 6.
SY Non-syndromic sensorineural deafness autosomal dominant type 6.
DR MIM; 600965; phenotype.
DR MedGen; C1833021.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 64.
AC DI-03231
AR DFNA64.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
SY Non-syndromic neurosensory deafness autosomal dominant type 64.
SY Non-syndromic sensorineural deafness autosomal dominant type 64.
DR MIM; 614152; phenotype.
DR MedGen; C3279948.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 65.
AC DI-04244
AR DFNA65.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information. DFNA65 is characterized by postlingual
DE onset of slowly progressive hearing loss in the third decade.
DE Initially affecting the high frequencies, the hearing loss eventually
DE affects all frequencies and results in severe to profound deafness in
DE the seventh decade. Vestibular function is normal.
DR MIM; 616044; phenotype.
DR MedGen; CN220131.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 66.
AC DI-04729
AR DFNA66.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
DR MIM; 616969; phenotype.
DR MedGen; CN236722.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 67.
AC DI-04416
AR DFNA67.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
DR MIM; 616340; phenotype.
DR MedGen; CN230132.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 68.
AC DI-04600
AR DFNA68.
DE A form of non-syndromic sensorineural hearing loss with postlingual
DE onset. Sensorineural deafness results from damage to the neural
DE receptors of the inner ear, the nerve pathways to the brain, or the
DE area of the brain that receives sound information.
DR MIM; 616707; phenotype.
DR MedGen; CN234588.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 7.
AC DI-05774
AR DFNA7.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information. DFNA7 is a progressive form with highly
DE variable age at onset and severity, even within families. The age at
DE onset ranges from congenital to mid-adulthood.
DR MIM; 601412; phenotype.
DR MedGen; C1832379.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 70.
AC DI-04728
AR DFNA70.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information. DFNA70 is characterized by slowly
DE progressive, postlingual hearing impairment.
DR MIM; 616968; phenotype.
DR MedGen; CN236721.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 71.
AC DI-05058
AR DFNA71.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information. DFNA71 is characterized by bilateral mild
DE to moderate hearing loss before age 20 years, which gradually
DE progresses to severe to profound hearing loss.
DR MIM; 617605; phenotype.
DR MedGen; CN381219.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 72.
AC DI-05059
AR DFNA72.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information. DFNA72 primarily affects the middle
DE frequencies. It gradually progresses to whole-frequency hearing loss.
DR MIM; 617606; phenotype.
DR MedGen; CN381220.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 73.
AC DI-05089
AR DFNA73.
DE A form of non-syndromic hearing loss characterized by mild to severe
DE bilateral symptoms with variable age of onset from early childhood to
DE the third decade.
DR MIM; 617663; phenotype.
DR MedGen; CN461628.
DR MeSH; D034381.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 74.
AC DI-05344
AR DFNA74.
DE A form of non-syndromic deafness characterized by progressive,
DE postlingual hearing loss with onset in the third decade of life.
SY Deafness, autosomal dominant 74.
DR MIM; 618140; phenotype.
DR MedGen; CN257925.
DR MeSH; D034381.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 75.
AC DI-05761
AR DFNA75.
DE A form of non-syndromic deafness characterized by late-onset hearing
DE loss that involves mid and high frequencies, and progresses to
DE encompass all frequencies.
DR MIM; 618778; phenotype.
DR MedGen; CN263282.
DR MeSH; D034381.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 76.
AC DI-05762
AR DFNA76.
DE A form of non-syndromic deafness characterized by mild to profound
DE sensorineural hearing loss and variable age at onset. Sensorineural
DE hearing loss results from damage to the neural receptors of the inner
DE ear, the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
DR MIM; 618787; phenotype.
DR MedGen; CN263293.
DR MeSH; D034381.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 77.
AC DI-05859
AR DFNA77.
DE A form of non-syndromic deafness characterized by adult onset of
DE bilateral, postlingual, mild-to-severe sensorineural hearing loss.
DE Sensorineural hearing loss results from damage to the neural receptors
DE of the inner ear, the nerve pathways to the brain, or the area of the
DE brain that receives sound information.
DR MIM; 618915; phenotype.
DR MedGen; CN282602.
DR MeSH; D034381.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 78.
AC DI-05957
AR DFNA78.
DE A form of non-syndromic deafness characterized by congenital, profound
DE bilateral sensorineural hearing loss affecting all frequencies. Some
DE patients may have mild motor delay early in life due to vestibular
DE dysfunction. Sensorineural hearing loss results from damage to the
DE neural receptors of the inner ear, the nerve pathways to the brain, or
DE the area of the brain that receives sound information.
DR MIM; 619081; phenotype.
DR MedGen; CN293443.
DR MeSH; D034381.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 79.
AC DI-05958
AR DFNA79.
DE A form of non-syndromic, progressive sensorineural hearing loss.
DE Sensorineural hearing loss results from damage to the neural receptors
DE of the inner ear, the nerve pathways to the brain, or the area of the
DE brain that receives sound information. DFNA79 affected females appear
DE to have milder hearing loss than males.
DR MIM; 619086; phenotype.
DR MedGen; CN293445.
DR MeSH; D034381.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 80.
AC DI-06082
AR DFNA80.
DE A form of non-syndromic, sensorineural hearing loss. Sensorineural
DE hearing loss results from damage to the neural receptors of the inner
DE ear, the nerve pathways to the brain, or the area of the brain that
DE receives sound information. DFNA80 is characterized by severe inner
DE ear malformations, bilateral cochlear aplasia and absent eighth
DE cranial nerve.
DR MIM; 619274; phenotype.
DR MedGen; CN296336.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 81.
AC DI-06210
AR DFNA81.
DE A form of non-syndromic, sensorineural hearing loss. Sensorineural
DE hearing loss results from damage to the neural receptors of the inner
DE ear, the nerve pathways to the brain, or the area of the brain that
DE receives sound information. DNFA81 is characterized by postlingual
DE onset of slowly progressive deafness.
DR MIM; 619500; phenotype.
DR MedGen; CN300360.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 82.
AC DI-06372
AR DFNA82.
DE A form of non-syndromic, sensorineural hearing loss. Sensorineural
DE hearing loss results from damage to the neural receptors of the inner
DE ear, the nerve pathways to the brain, or the area of the brain that
DE receives sound information. DNFA82 is characterized by onset of
DE rapidly progressive bilateral sensorineural hearing loss usually early
DE in the first decade.
DR MIM; 619804; phenotype.
DR MedGen; CN307254.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, 9.
AC DI-00839
AR DFNA9.
DE A form of non-syndromic hearing loss characterized by onset in the
DE fourth or fifth decade of life and initially involves the high
DE frequencies. Hearing loss is progressive and usually complete by the
DE sixth decade. In addition to cochlear involvement, DFNA9 patients also
DE exhibit a spectrum of vestibular dysfunctions. Penetrance of the
DE vestibular symptoms is often incomplete, and some patients are
DE minimally affected, whereas others suffer from severe balance
DE disturbances and episodes of vertigo. Affected individuals have
DE mucopolysaccharide depositions in the channels of the cochlear and
DE vestibular nerves. These depositions apparently cause strangulation
DE and degeneration of dendritic fibers.
DR MIM; 601369; phenotype.
DR MedGen; C1832425.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal dominant, without vestibular involvement.
AC DI-02065
AR DFNAWVI.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
DR MIM; 609006; phenotype.
DR MedGen; C3149566.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 100.
AC DI-05551
AR DFNB100.
DE A form of non-syndromic, sensorineural deafness characterized by
DE prelingual hearing impairment. Sensorineural deafness results from
DE damage to the neural receptors of the inner ear, the nerve pathways to
DE the brain, or the area of the brain that receives sound information.
DR MIM; 618422; phenotype.
DR MedGen; CN258377.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 101.
AC DI-04121
AR DFNB101.
DE A form of non-syndromic deafness characterized by bilateral, moderate
DE to severe hearing loss. Vestibular function is unaffected.
DR MIM; 615837; phenotype.
DR MedGen; CN188273.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 102.
AC DI-04190
AR DFNB102.
DE A form of non-syndromic deafness characterized by profound hearing
DE loss affecting all frequencies. Vestibular function is unaffected.
DR MIM; 615974; phenotype.
DR MedGen; CN219004.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 103.
AC DI-04268
AR DFNB103.
DE A form of sensorineural deafness with onset in early childhood.
DE Hearing impairment progresses from mild to severe or even profound
DE before the second decade, and is accompanied by vestibular areflexia.
DR MIM; 616042; phenotype.
DR MedGen; CN221349.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 104.
AC DI-04500
AR DFNB104.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
DR MIM; 616515; phenotype.
DR MedGen; CN232324.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 106.
AC DI-05056
AR DFNB106.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
DR MIM; 617637; phenotype.
DR MedGen; CN414511.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 107.
AC DI-05057
AR DFNB107.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
DR MIM; 617639; phenotype.
DR MedGen; CN417138.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 108.
AC DI-05055
AR DFNB108.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
DR MIM; 617654; phenotype.
DR MedGen; CN427418.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 109.
AC DI-05261
AR DFNB109.
DE A form of non-syndromic, sensorineural deafness characterized by
DE bilateral, congenital, severe to profound hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information. DFNB109 affected individuals additionally
DE exhibit vestibular dysplasia, although they do not manifest problems
DE with balance or movement.
DR MIM; 618013; phenotype.
DR MedGen; CN248519.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 110.
AC DI-05316
AR DFNB110.
DE A form of non-syndromic, sensorineural deafness characterized by
DE prelingual hearing loss. Sensorineural deafness results from damage to
DE the neural receptors of the inner ear, the nerve pathways to the
DE brain, or the area of the brain that receives sound information.
DE DFNB110 affected individuals additionally exhibit mild, age-dependent
DE vestibular dysfunction.
DR MIM; 618094; phenotype.
DR MedGen; CN253427.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 111.
AC DI-05349
AR DFNB111.
DE A form of non-syndromic, sensorineural deafness characterized by
DE early-onset, moderate to severe hearing loss with no vestibular
DE involvement. Sensorineural deafness results from damage to the neural
DE receptors of the inner ear, the nerve pathways to the brain, or the
DE area of the brain that receives sound information.
DR MIM; 618145; phenotype.
DR MedGen; CN257732.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 112.
AC DI-05438
AR DFNB112.
DE A form of non-syndromic, sensorineural deafness characterized by
DE postlingual progressive hearing impairment. Sensorineural deafness
DE results from damage to the neural receptors of the inner ear, the
DE nerve pathways to the brain, or the area of the brain that receives
DE sound information.
DR MIM; 618257; phenotype.
DR MedGen; CN257532.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 113.
AC DI-05550
AR DFNB113.
DE A form of non-syndromic, sensorineural deafness characterized by
DE postlingual progressive hearing impairment. Sensorineural deafness
DE results from damage to the neural receptors of the inner ear, the
DE nerve pathways to the brain, or the area of the brain that receives
DE sound information.
DR MIM; 618410; phenotype.
DR MedGen; CN258343.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 114.
AC DI-05583
AR DFNB114.
DE A form of non-syndromic deafness characterized by congenital profound
DE sensorineural hearing loss. Sensorineural deafness results from damage
DE to the neural receptors of the inner ear, the nerve pathways to the
DE brain, or the area of the brain that receives sound information.
DR MIM; 618456; phenotype.
DR MedGen; CN258818.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 115.
AC DI-05584
AR DFNB115.
DE A form of non-syndromic deafness characterized by severe sensorineural
DE hearing impairment in early childhood. Sensorineural deafness results
DE from damage to the neural receptors of the inner ear, the nerve
DE pathways to the brain, or the area of the brain that receives sound
DE information.
DR MIM; 618457; phenotype.
DR MedGen; CN258819.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 116.
AC DI-05964
AR DFNB116.
DE A form of non-syndromic deafness characterized by slowly progressive,
DE moderate to profound sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
DR MIM; 619093; phenotype.
DR MedGen; CN293454.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 117.
AC DI-06028
AR DFNB117.
DE A form of non-syndromic deafness characterized by pre-lingual,
DE moderate-to-profound sensorineural hearing loss. Sensorineural hearing
DE loss results from damage to the neural receptors of the inner ear, the
DE nerve pathways to the brain, or the area of the brain that receives
DE sound information.
DR MIM; 619174; phenotype.
DR MedGen; CN295244.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 118, with cochlear aplasia.
AC DI-06233
AR DFNB118.
DE A form of non-syndromic deafness characterized by congenital profound
DE sensorineural hearing loss and cochlear aplasia. Sensorineural hearing
DE loss results from damage to the neural receptors of the inner ear, the
DE nerve pathways to the brain, or the area of the brain that receives
DE sound information.
DR MIM; 619553; phenotype.
DR MedGen; CN300600.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 119.
AC DI-06271
AR DFNB119.
DE A form of non-syndromic deafness characterized by mild to profound
DE sensorineural hearing loss. Sensorineural hearing loss results from
DE damage to the neural receptors of the inner ear, the nerve pathways to
DE the brain, or the area of the brain that receives sound information.
DR MIM; 619615; phenotype.
DR MedGen; CN304366.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 12.
AC DI-00862
AR DFNB12.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
SY Congenital neurosensory deafness autosomal recessive 12.
SY Non-syndromic neurosensory deafness autosomal recessive type 12.
SY Non-syndromic sensorineural deafness autosomal recessive type 12.
DR MIM; 601386; phenotype.
DR MedGen; C1832394.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 15.
AC DI-03190
AR DFNB15.
DE A form of non-syndromic sensorineural hearing loss with prelingual
DE onset. Sensorineural deafness results from damage to the neural
DE receptors of the inner ear, the nerve pathways to the brain, or the
DE area of the brain that receives sound information.
SY Deafness autosomal recessive 72.
SY Deafness autosomal recessive 95.
SY DFNB72.
SY DFNB95.
SY Non-syndromic neurosensory deafness autosomal recessive type 15.
SY Non-syndromic sensorineural deafness autosomal recessive type 15.
DR MIM; 601869; phenotype.
DR MedGen; C1866094.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 16.
AC DI-00863
AR DFNB16.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
SY Non-syndromic neurosensory deafness autosomal recessive type 16.
SY Non-syndromic sensorineural deafness autosomal recessive type 16.
DR MIM; 603720; phenotype.
DR MedGen; C1863561.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 18A.
AC DI-00864
AR DFNB18A.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
SY Non-syndromic neurosensory deafness autosomal recessive type 18.
SY Non-syndromic sensorineural deafness autosomal recessive type 18.
DR MIM; 602092; phenotype.
DR MedGen; C1865870.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 18B.
AC DI-03621
AR DFNB18B.
DE A form of non-syndromic deafness characterized by a moderate hearing
DE impairment, which can be associated with vestibular dysfunction, and a
DE flat to shallow 'U' or slightly downsloping shaped audiograms.
DR MIM; 614945; phenotype.
DR MedGen; C3554163.
DR MeSH; D034381.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 1A.
AC DI-00852
AR DFNB1A.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
SY Deafness digenic GJB2/GJB3.
SY Deafness digenic GJB2/GJB6.
SY Deafness neurosensory autosomal recessive 1.
SY Non-syndromic neurosensory deafness autosomal recessive type 1.
SY Non-syndromic sensorineural deafness autosomal recessive type 1.
SY NSRD1.
DR MIM; 220290; phenotype.
DR MedGen; C2673759.
DR MedGen; C2673760.
DR MedGen; C2673761.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 1B.
AC DI-00853
AR DFNB1B.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
SY Deafness digenic GJB2/GJB6.
SY Deafness neurosensory autosomal recessive 1.
SY Non-syndromic neurosensory deafness autosomal recessive type 1.
SY Non-syndromic sensorineural deafness autosomal recessive type 1.
SY NSRD1.
DR MIM; 612645; phenotype.
DR MedGen; C2675235.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 2.
AC DI-00854
AR DFNB2.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
SY Deafness neurosensory autosomal recessive 2.
SY Neurosensory nonsyndromic recessive deafness 2.
SY Non-syndromic neurosensory deafness autosomal recessive type 2.
SY Non-syndromic sensorineural deafness autosomal recessive type 2.
SY NSRD2.
DR MIM; 600060; phenotype.
DR MedGen; C1838701.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 21.
AC DI-00865
AR DFNB21.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
SY Non-syndromic neurosensory deafness autosomal recessive type 21.
SY Non-syndromic sensorineural deafness autosomal recessive type 21.
DR MIM; 603629; phenotype.
DR MedGen; C1863655.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 22.
AC DI-00866
AR DFNB22.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
SY Non-syndromic neurosensory deafness autosomal recessive type 22.
SY Non-syndromic sensorineural deafness autosomal recessive type 22.
DR MIM; 607039; phenotype.
DR MedGen; C1846896.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 23.
AC DI-00867
AR DFNB23.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
SY Non-syndromic neurosensory deafness autosomal recessive type 23.
SY Non-syndromic sensorineural deafness autosomal recessive type 23.
DR MIM; 609533; phenotype.
DR MedGen; C1836027.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 24.
AC DI-02066
AR DFNB24.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
DR MIM; 611022; phenotype.
DR MedGen; C1970239.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 25.
AC DI-02537
AR DFNB25.
DE A form of non-syndromic sensorineural deafness characterized by
DE moderate to severe or profound hearing loss which is progressive in
DE some individuals but not in others. Speech development is impaired in
DE some but not all affected individuals, and vestibular dysfunction is
DE observed in some affected individuals. Sensorineural deafness results
DE from damage to the neural receptors of the inner ear, the nerve
DE pathways to the brain, or the area of the brain that receives sound
DE information.
DR MIM; 613285; phenotype.
DR MedGen; C1414017.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 26.
AC DI-05262
AR DFNB26.
DE A form of non-syndromic sensorineural deafness characterized by
DE prelingual, severe to profound hearing loss. Sensorineural deafness
DE results from damage to the neural receptors of the inner ear, the
DE nerve pathways to the brain, or the area of the brain that receives
DE sound information.
DR MIM; 605428; phenotype.
DR MedGen; C1854275.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 28.
AC DI-00868
AR DFNB28.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
SY Non-syndromic neurosensory deafness autosomal recessive type 28.
SY Non-syndromic sensorineural deafness autosomal recessive type 28.
DR MIM; 609823; phenotype.
DR MedGen; C1853276.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 29.
AC DI-00869
AR DFNB29.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
SY Non-syndromic neurosensory deafness autosomal recessive type 29.
SY Non-syndromic sensorineural deafness autosomal recessive type 29.
DR MIM; 614035; phenotype.
DR MedGen; C3279660.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 3.
AC DI-00855
AR DFNB3.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
SY Deafness neurosensory autosomal recessive 3.
SY Neurosensory nonsyndromic recessive deafness 3.
SY Non-syndromic neurosensory deafness autosomal recessive type 3.
SY Non-syndromic sensorineural deafness autosomal recessive type 3.
SY NSRD3.
DR MIM; 600316; phenotype.
DR MedGen; C1838263.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 30.
AC DI-00870
AR DFNB30.
DE A form of non-syndromic deafness characterized by bilateral
DE progressive hearing loss, which first affects the high frequencies.
DE Hearing loss begins in the second decade, and by age 50 is severe in
DE high and middle frequencies and moderate at low frequencies.
DR MIM; 607101; phenotype.
DR MedGen; C1846784.
DR MeSH; D003638.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 31.
AC DI-00871
AR DFNB31.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
SY Non-syndromic neurosensory deafness autosomal recessive type 31.
SY Non-syndromic sensorineural deafness autosomal recessive type 31.
DR MIM; 607084; phenotype.
DR MedGen; C1846839.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 32, with or without immotile sperm.
AC DI-05341
AR DFNB32.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information. DFNB32 is characterized by prelingual,
DE progressive, moderate to profound sensorineural deafness. Some
DE affected men are infertile.
SY Deafness, autosomal recessive 105.
SY Hearing impairment and infertile male syndrome.
SY HIIMS.
DR MIM; 608653; phenotype.
DR MedGen; C1837608.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 35.
AC DI-00872
AR DFNB35.
DE A form of non-syndromic deafness characterized by non-progressive,
DE prelingual hearing loss.
DR MIM; 608565; phenotype.
DR MedGen; C1837857.
DR MeSH; D003638.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 36, with or without vestibular involvement.
AC DI-00873
AR DFNB36.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information. DFNB36 is characterized by prelingual,
DE profound hearing loss, and vestibular areflexia in some patients.
SY Non-syndromic neurosensory deafness autosomal recessive type 36.
SY Non-syndromic sensorineural deafness autosomal recessive type 36.
DR MIM; 609006; phenotype.
DR MedGen; C1837007.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 37.
AC DI-00874
AR DFNB37.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
SY Congenital neurosensory deafness autosomal recessive 37.
SY Non-syndromic neurosensory deafness autosomal recessive type 37.
SY Non-syndromic sensorineural deafness autosomal recessive type 37.
DR MIM; 607821; phenotype.
DR MedGen; C1843028.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 39.
AC DI-02477
AR DFNB39.
DE A form of profound prelingual sensorineural hearing loss.
DE Sensorineural deafness results from damage to the neural receptors of
DE the inner ear, the nerve pathways to the brain, or the area of the
DE brain that receives sound information.
SY Congenital neurosensory deafness autosomal recessive 39.
SY Non-syndromic neurosensory deafness autosomal recessive type 39.
SY Non-syndromic sensorineural deafness autosomal recessive type 39.
DR MIM; 608265; phenotype.
DR MedGen; C1842342.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 4.
AC DI-00856
AR DFNB4.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information. DFNB4 is associated with an enlarged
DE vestibular aqueduct.
SY Deafness neurosensory autosomal recessive 4.
SY Enlarged vestibular aqueduct.
SY EVA.
SY Neurosensory nonsyndromic recessive deafness 4.
SY Non-syndromic neurosensory deafness autosomal recessive type 4.
SY Non-syndromic sensorineural deafness autosomal recessive type 4.
SY NSRD4.
DR MIM; 600791; phenotype.
DR MedGen; C1863752.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 42.
AC DI-03029
AR DFNB42.
DE A prelingual, non-progressive form of non-syndromic sensorineural
DE hearing loss. Sensorineural deafness results from damage to the neural
DE receptors of the inner ear, the nerve pathways to the brain, or the
DE area of the brain that receives sound information.
SY Congenital neurosensory deafness autosomal recessive 42.
SY Non-syndromic neurosensory deafness autosomal recessive type 42.
SY Non-syndromic sensorineural deafness autosomal recessive type 42.
DR MIM; 609646; phenotype.
DR MedGen; C1864818.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 44.
AC DI-04170
AR DFNB44.
DE A form of non-syndromic deafness characterized by prelingual profound
DE hearing loss affecting all frequencies.
DR MIM; 610154; phenotype.
DR MedGen; C1857809.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 48.
AC DI-03551
AR DFNB48.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information. DFNB48 patients have prelingual onset of
DE severe to profound sensorineural hearing loss affecting all
DE frequencies.
SY Non-syndromic neurosensory deafness autosomal recessive type 48.
SY Non-syndromic sensorineural deafness autosomal recessive type 48.
DR MIM; 609439; phenotype.
DR MedGen; C1836199.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 49.
AC DI-00875
AR DFNB49.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
SY Non-syndromic neurosensory deafness autosomal recessive type 49.
SY Non-syndromic sensorineural deafness autosomal recessive type 49.
DR MIM; 610153; phenotype.
DR MedGen; C1857811.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 53.
AC DI-00876
AR DFNB53.
DE A form of non-syndromic sensorineural deafness characterized by
DE prelingual, profound, non-progressive hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
SY Non-syndromic neurosensory deafness autosomal recessive type 53.
SY Non-syndromic sensorineural deafness autosomal recessive type 53.
DR MIM; 609706; phenotype.
DR MedGen; C1864746.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 57.
AC DI-05260
AR DFNB57.
DE A form of non-syndromic, sensorineural deafness characterized by
DE symmetric, bilateral hearing loss with onset in early childhood.
DE Vestibular function is preserved. Sensorineural deafness results from
DE damage to the neural receptors of the inner ear, the nerve pathways to
DE the brain, or the area of the brain that receives sound information.
DE DFNB57 severity ranges from moderate to severe.
DR MIM; 618003; phenotype.
DR MedGen; CN248511.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 59.
AC DI-00877
AR DFNB59.
DE A form of sensorineural hearing impairment with absent or severely
DE abnormal auditory brainstem response but normal otoacoustic emissions
DE (auditory neuropathy or auditory dys-synchrony). Auditory neuropathies
DE result from a lesion in the area including the inner hair cells,
DE connections between the inner hair cells and the cochlear branch of
DE the auditory nerve, the auditory nerve itself and auditory pathways of
DE the brainstem.
SY DFNB59 auditory neuropathy.
DR MIM; 610220; phenotype.
DR MedGen; C1857744.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 6.
AC DI-00857
AR DFNB6.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
SY Deafness neurosensory autosomal recessive 6.
SY Neurosensory nonsyndromic recessive deafness 6.
SY Non-syndromic neurosensory deafness autosomal recessive type 6.
SY Non-syndromic sensorineural deafness autosomal recessive type 6.
SY NSRD6.
DR MIM; 600971; phenotype.
DR MedGen; C1832992.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 61.
AC DI-02548
AR DFNB61.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
SY Non-syndromic neurosensory deafness autosomal recessive type 61.
SY Non-syndromic sensorineural deafness autosomal recessive type 61.
DR MIM; 613865; phenotype.
DR MedGen; C3151230.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 63.
AC DI-00878
AR DFNB63.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
SY Non-syndromic neurosensory deafness autosomal recessive type 63.
SY Non-syndromic sensorineural deafness autosomal recessive type 63.
DR MIM; 611451; phenotype.
DR MedGen; C1969621.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 66.
AC DI-04549
AR DFNB66.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
DR MIM; 610212; phenotype.
DR MedGen; C1857750.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 67.
AC DI-02067
AR DFNB67.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
DR MIM; 610265; phenotype.
DR MedGen; C1853223.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 68.
AC DI-04685
AR DFNB68.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
DR MIM; 610419; phenotype.
DR MedGen; C1835854.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 7.
AC DI-00858
AR DFNB7.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
SY Deafness neurosensory autosomal recessive 11.
SY Deafness neurosensory autosomal recessive 7.
SY DFNB11.
SY Non-syndromic neurosensory deafness autosomal recessive type 7.
SY Non-syndromic sensorineural deafness autosomal recessive type 7.
DR MIM; 600974; phenotype.
DR MedGen; C1832978.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 70.
AC DI-03614
AR DFNB70.
DE A form of non-syndromic deafness characterized by severe, bilateral
DE hearing impairment with prelingual onset, resulting in inability to
DE acquire normal speech.
DR MIM; 614934; phenotype.
DR MedGen; CN160615.
DR MeSH; D003638.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 74.
AC DI-02958
AR DFNB74.
DE A form of non-syndromic sensorineural deafness characterized by
DE prelingual, bilateral, profound hearing loss. Sensorineural deafness
DE results from damage to the neural receptors of the inner ear, the
DE nerve pathways to the brain, or the area of the brain that receives
DE sound information.
DR MIM; 613718; phenotype.
DR MedGen; C2239351.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 76.
AC DI-03957
AR DFNB76.
DE A form of non-syndromic sensorineural deafness, a disorder resulting
DE from damage to the neural receptors of the inner ear, the nerve
DE pathways to the brain, or the area of the brain that receives sound
DE information. DFNB76 affected individuals have onset of progressive
DE high frequency hearing impairment between birth and 6 years of age.
DE The hearing loss is severe at high frequencies by adulthood.
DR MIM; 615540; phenotype.
DR MedGen; CN181763.
DR MeSH; D006316.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 77.
AC DI-02528
AR DFNB77.
DE A form of non-syndromic deafness characterized by preserved low-
DE frequency hearing, and a trend toward mild to moderate mid-frequency
DE and high-frequency hearing loss during childhood and adolescence.
DE Hearing loss progresses to become moderate to severe at mid and high
DE frequencies during adulthood.
SY Non-syndromic neurosensory deafness autosomal recessive type 77.
DR MIM; 613079; phenotype.
DR MedGen; C2746083.
DR MeSH; D003638.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 79.
AC DI-02596
AR DFNB79.
DE A form of non-syndromic deafness characterized by progressive and
DE severe sensorineural hearing loss. There are no symptoms of vestibular
DE dysfunction.
SY Non-syndromic neurosensory deafness autosomal recessive type 79.
DR MIM; 613307; phenotype.
DR MedGen; C2750082.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 8.
AC DI-00859
AR DFNB8.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
SY Childhood-onset neurosensory deafness autosomal recessive 8.
SY Deafness autosomal recessive 10.
SY Deafness autosomal recessive 8/10.
SY Deafness neurosensory autosomal recessive 8.
SY DFNB10.
SY Neurosensory nonsyndromic recessive deafness 8.
SY Non-syndromic neurosensory deafness autosomal recessive type 8.
SY Non-syndromic sensorineural deafness autosomal recessive type 8.
SY NSRD8.
DR MIM; 601072; phenotype.
DR MedGen; C1832827.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 84A.
AC DI-02691
AR DFNB84A.
DE A form of non-syndromic deafness characterized by progressive,
DE sensorineural hearing loss and vestibular dysfunction.
SY Deafness autosomal recessive 84.
SY Deafness autosomal recessive 84A with vestibular dysfunction.
SY Non-syndromic neurosensory deafness autosomal recessive type 84.
DR MIM; 613391; phenotype.
DR MedGen; C3150654.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 84B.
AC DI-03565
AR DFNB84B.
DE A form of non-syndromic deafness characterized by congenital, non-
DE progressive, sensorineural, symmetric hearing loss. Vestibular
DE hypofunction is rarely observed.
DR MIM; 614944; phenotype.
DR MedGen; C3554159.
DR MedGen; CN161006.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 86.
AC DI-04026
AR DFNB86.
DE A form of non-syndromic deafness characterized by prelingual onset of
DE profound sensorineural hearing loss affecting all frequencies.
DR MIM; 614617; phenotype.
DR MedGen; CN124880.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 88.
AC DI-03888
AR DFNB88.
DE A form of non-syndromic deafness characterized by prelingual onset of
DE severe to profound mixed conductive and sensorineural hearing loss.
DR MIM; 615429; phenotype.
DR MedGen; CN180160.
DR MeSH; D046089.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 89.
AC DI-03865
AR DFNB89.
DE A form of non-syndromic deafness characterized by bilateral,
DE prelingual, moderate to severe hearing loss affecting all frequencies.
DR MIM; 613916; phenotype.
DR MedGen; C3151351.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 9.
AC DI-00860
AR DFNB9.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
SY Deafness neurosensory autosomal recessive 9.
SY Neurosensory nonsyndromic recessive deafness 9.
SY Non-syndromic neurosensory deafness autosomal recessive type 9.
SY Non-syndromic recessive hearing loss 9.
SY NSRD9.
DR MIM; 601071; phenotype.
DR MedGen; C1832828.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 91.
AC DI-02706
AR DFNB91.
DE A form of non-syndromic deafness characterized by progressive and age-
DE dependent sensorineural hearing loss. Vestibular function is normal.
SY Non-syndromic neurosensory deafness autosomal recessive type 91.
DR MIM; 613453; phenotype.
DR MedGen; C3150704.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 93.
AC DI-03553
AR DFNB93.
DE A form of non-syndromic deafness characterized by stable, bilateral,
DE symmetric, prelingual moderate to severe deafness. Hearing impairment
DE is slightly more pronounced in the mid-frequencies, resulting in a
DE distinctive shallow U-shaped audiogram.
SY Non-syndromic neurosensory deafness autosomal recessive type 93.
DR MIM; 614899; phenotype.
DR MedGen; CN159249.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 94.
AC DI-05552
AR DFNB94.
DE A form of non-syndromic, sensorineural deafness characterized by
DE prelingual, profound, bilateral hearing impairment. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information.
DR MIM; 618434; phenotype.
DR MedGen; CN258813.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 97.
AC DI-04599
AR DFNB97.
DE A form of non-syndromic sensorineural hearing loss with prelingual
DE onset. Sensorineural deafness results from damage to the neural
DE receptors of the inner ear, the nerve pathways to the brain, or the
DE area of the brain that receives sound information.
DR MIM; 616705; phenotype.
DR MedGen; CN234587.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 98.
AC DI-03535
AR DFNB98.
DE A form of non-syndromic sensorineural hearing loss with prelingual
DE onset. Sensorineural deafness results from damage to the neural
DE receptors of the inner ear, the nerve pathways to the brain, or the
DE area of the brain that receives sound information.
DR MIM; 614861; phenotype.
DR MedGen; C3553932.
DR MedGen; CN158714.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, autosomal recessive, 99.
AC DI-05585
AR DFNB99.
DE A form of non-syndromic deafness characterized by prelingual,
DE bilateral, severe-to-profound sensorineural hearing loss.
DE Sensorineural deafness results from damage to the neural receptors of
DE the inner ear, the nerve pathways to the brain, or the area of the
DE brain that receives sound information.
DR MIM; 618481; phenotype.
DR MedGen; CN260175.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, cataract, impaired intellectual development, and polyneuropathy.
AC DI-06133
AR DCIDP.
DE An autosomal recessive disease characterized by early onset of
DE deafness, cataract, severe developmental delay, and severely impaired
DE intellectual development. Patients later develop polyneuropathy of the
DE lower extremities, associated with depigmentation of the hair in that
DE area.
DR MIM; 619354; phenotype.
DR MedGen; CN296938.
DR MeSH; D009422.
KW KW-0209:Deafness.
KW KW-0622:Neuropathy.
KW KW-0898:Cataract.
KW KW-0991:Intellectual disability.
//
ID Deafness, congenital heart defects, and posterior embryotoxon.
AC DI-05252
AR DCHE.
DE An autosomal dominant disease characterized by mild to severe combined
DE hearing loss, congenital heart defects, and posterior embryotoxon, a
DE corneal abnormality consisting of a central collagen core surrounded
DE by a thin layer of Descemets membrane and separated from the anterior
DE chamber by a layer of endothelium. Congenital heart defects include
DE tetralogy of Fallot, ventricular septal defect, or isolated peripheral
DE pulmonic stenosis.
DR MIM; 617992; phenotype.
DR MedGen; C1866053.
DR MeSH; D000013.
KW KW-0209:Deafness.
//
ID Deafness, congenital, and adult-onset progressive leukoencephalopathy.
AC DI-06032
AR DEAPLE.
DE An autosomal recessive, complex neurodegenerative disorder
DE characterized by congenital sensorineural deafness, and progressive
DE motor and cognitive decline apparent in young adulthood. Brain imaging
DE shows diffuse white matter abnormalities affecting various brain
DE regions, consistent with a progressive leukoencephalopathy. More
DE variable additional features may include visual impairment and axonal
DE peripheral neuropathy. Premature death may occurr in some patients.
DR MIM; 619196; phenotype.
DR MedGen; CN295785.
DR MeSH; D056784.
KW KW-0209:Deafness.
KW KW-0523:Neurodegeneration.
//
ID Deafness, congenital, unilateral or asymmetric.
AC DI-04598
AR DCUA.
DE An autosomal dominant form of non-syndromic, sensorineural deafness
DE characterized by inability to hear affecting one ear. Some patients
DE suffers from asymmetric, bilateral hearing loss.
DR MIM; 616697; phenotype.
DR MedGen; CN234669.
DR MeSH; D006319.
DR MeSH; D046088.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, congenital, with onychodystrophy, autosomal dominant.
AC DI-04735
AR DDOD.
DE An autosomal dominant syndrome characterized mainly by congenital
DE sensorineural hearing loss accompanied by dystrophic or absent nails.
DE Coniform teeth, selective tooth agenesis, and hands and feet
DE abnormalities are present in some patients.
SY DDOD syndrome.
DR MIM; 124480; phenotype.
DR MedGen; C2675730.
DR MeSH; D003638.
DR MeSH; D009264.
DR MeSH; D014071.
KW KW-0209:Deafness.
//
ID Deafness, dystonia, and cerebral hypomyelination.
AC DI-03930
AR DDCH.
DE An X-linked recessive syndrome characterized by sensorineural
DE deafness, intellectual disability, dysmorphic facial features,
DE dystonia, pyramidal signs, almost no psychomotor development, and
DE hypomyelination on brain imaging.
DR MIM; 300475; phenotype.
DR MedGen; C1845408.
DR MeSH; D004421.
DR MeSH; D006319.
DR MeSH; D008607.
KW KW-0209:Deafness.
KW KW-0991:Intellectual disability.
KW KW-1023:Dystonia.
//
ID Deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures syndrome.
AC DI-03992
AR DOORS.
DE A syndrome characterized by sensorineural deafness, intellectual
DE disability, hypoplastic or absent nails, small or absent distal
DE phalanges of hands and feet. Additional features include coarse
DE facies, a large nose with wide nasal bridge, bulbous tip and
DE anteverted nares, a long prominent philtrum and downturned corners of
DE the mouth. Progressive neurological manifestations include seizures
DE from infancy, optic atrophy, and peripheral polyneuropathy.
SY Brachydactyly due to absence of distal phalanges.
SY Digitorenocerebral syndrome.
SY DOOR syndrome.
SY DRC syndrome.
SY Eronen syndrome.
DR MIM; 220500; phenotype.
DR MedGen; C0795934.
DR MedGen; C1857345.
DR MeSH; D006319.
DR MeSH; D008607.
DR MeSH; D009260.
DR MeSH; D012640.
DR MeSH; D017880.
DR MeSH; D019465.
KW KW-0209:Deafness.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Deafness, sensorineural, mitochondrial.
AC DI-02887
AR DFNM.
DE A form of non-syndromic deafness with maternal inheritance. Affected
DE individuals manifest progressive, postlingual, sensorineural hearing
DE loss involving high frequencies.
DR MIM; 500008; phenotype.
DR MedGen; C3151897.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, X-linked, 1.
AC DI-02690
AR DFNX1.
DE A form of deafness characterized by progressive, severe-to-profound
DE sensorineural hearing loss in males. Females manifest mild to moderate
DE hearing loss.
SY Congenital sensorineural deafness X-linked 2.
SY DFN2.
DR MIM; 304500; phenotype.
DR MedGen; C1844677.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, X-linked, 2.
AC DI-02441
AR DFNX2.
DE A form of deafness characterized by both conductive hearing loss
DE resulting from stapes (perilymphatic gusher) fixation, and progressive
DE sensorineural deafness.
SY Deafness 3 conductive with stapes fixation.
SY Deafness conductive with stapes fixation.
SY Deafness mixed with perilymphatic gusher.
SY Deafness mixed with perilymph Gusher X-linked.
SY DFN3.
SY Nance deafness.
SY Perilymphatic gusher-deafness syndrome.
SY X-linked mixed conductive and neurosensory deafness.
SY X-linked mixed conductive and sensorineural deafness.
DR MIM; 304400; phenotype.
DR MedGen; C2677850.
DR MeSH; D046089.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, X-linked, 4.
AC DI-03162
AR DFNX4.
DE A non-syndromic form of sensorineural, progressive hearing loss with
DE postlingual onset. In affected males, the auditory impairment affects
DE initially high-frequency hearing. It later evolves to become severe to
DE profound and affects all frequencies. Carrier females manifest
DE moderate hearing impairment in the high frequencies.
SY Deafness nonsyndromic sensorineural progressive 6.
SY Deafness X-linked 6 progressive.
SY DFN6.
DR MIM; 300066; phenotype.
DR MedGen; C1848204.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, X-linked, 5, with peripheral neuropathy.
AC DI-04610
AR DFNX5.
DE A form of hearing loss characterized by absent or severely abnormal
DE auditory brainstem response, abnormal middle ear reflexes, abnormal
DE speech discrimination, loss of outer hair cell function, and cochlear
DE nerve hypoplasia. DFNX5 patients manifest auditory neuropathy with
DE childhood onset, associated with distal sensory impairment affecting
DE the peripheral nervous system.
SY Auditory neuropathy, X-linked, 1, with peripheral sensory neuropathy.
SY AUNX1.
DR MIM; 300614; phenotype.
DR MedGen; C1845095.
DR MeSH; D006319.
KW KW-0209:Deafness.
KW KW-0622:Neuropathy.
//
ID Deafness, X-linked, 6.
AC DI-04012
AR DFNX6.
DE A non-syndromic form of sensorineural hearing loss with prelingual
DE onset. Sensorineural deafness results from damage to the neural
DE receptors of the inner ear, the nerve pathways to the brain, or the
DE area of the brain that receives sound information.
DR MIM; 300914; phenotype.
DR MedGen; C3806737.
DR MedGen; CN184127.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness, X-linked, 7.
AC DI-05369
AR DFNX7.
DE A congenital form of bilateral mixed or conductive hearing loss, which
DE is progressive in some patients. Additional clinical features include
DE ear anomalies and facial dysmorphism with bilateral ptosis.
DR MIM; 301018; phenotype.
DR MedGen; CN257788.
DR MeSH; D006319.
KW KW-0209:Deafness.
//
ID Deafness, Y-linked 2.
AC DI-05525
AR DFNY2.
DE A form of non-syndromic sensorineural hearing loss. Sensorineural
DE deafness results from damage to the neural receptors of the inner ear,
DE the nerve pathways to the brain, or the area of the brain that
DE receives sound information. DFNY2 patients show bilateral symmetric
DE hearing loss ranging from mild to severe, with onset in the third to
DE fifth decades of life.
DR MIM; 400047; phenotype.
DR MedGen; CN258289.
DR MeSH; D006319.
KW KW-1010:Non-syndromic deafness.
//
ID Deafness-infertility syndrome.
AC DI-01474
AR DIS.
DE Characterized by deafness and infertility and is caused by large
DE contiguous gene deletions at 15q15.3 that removes both STRC and
DE CATSPER2 genes.
SY Chromosome 15q15.3 deletion syndrome.
SY Deafness, sensorineural, and male infertility.
DR MIM; 611102; phenotype.
DR MedGen; C1970187.
//
ID DEEAH syndrome.
AC DI-05908
AR DEEAH.
DE An autosomal recessive disorder characterized by moderate to severe
DE global developmental delay, impaired intellectual development, poor or
DE absent speech, and endocrine, pancreatic exocrine and autonomic
DE dysfunction, as well as hematologic abnormalities. Additional features
DE include facial dysmorphism, seizures, undescended testes, and distal
DE skeletal anomalies. Death in early childhood may occur.
SY Developmental delay with endocrine, exocrine, autonomic, and hematologic abnormalities.
DR MIM; 619004; phenotype.
DR MedGen; CN283361.
DR MeSH; D000015.
KW KW-0991:Intellectual disability.
//
ID DEGCAGS syndrome.
AC DI-06209
AR DEGCAGS.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE global developmental delay, coarse facial features, and abnormalities
DE of the cardiovascular, gastrointestinal, genitourinary and skeletal
DE system. Other common features included anemia or pancytopenia,
DE immunodeficiency and recurrent infections, and sensorineural hearing
DE impairment. Death in childhood may occur.
SY Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities.
DR MIM; 619488; phenotype.
DR MedGen; CN300351.
DR MeSH; D065886.
KW KW-0209:Deafness.
KW KW-0991:Intellectual disability.
//
ID Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema.
AC DI-03801
AR DHS1.
DE An autosomal dominant hemolytic anemia characterized by primary
DE erythrocyte dehydration. DHS erythrocytes exhibit decreased total
DE cation and potassium content that are not accompanied by a
DE proportional net gain of sodium and water. DHS patients typically
DE exhibit mild to moderate compensated hemolytic anemia, with an
DE increased erythrocyte mean corpuscular hemoglobin concentration and a
DE decreased osmotic fragility, both of which reflect cellular
DE dehydration. Patients may also show perinatal edema and
DE pseudohyperkalemia due to loss of potassium from red cells stored at
DE room temperature. A minor proportion of red cells appear as
DE stomatocytes on blood films. Complications such as splenomegaly and
DE cholelithiasis, resulting from increased red cell trapping in the
DE spleen and elevated bilirubin levels, respectively, may occur. The
DE course of DHS is frequently associated with iron overload, which may
DE lead to hepatosiderosis.
SY Dehydrated hereditary stomatocytosis.
SY DHS.
SY Familial pseudohyperkalemia 1 due to red cell leak.
SY Hereditary desiccytosis.
SY Hereditary xerocytosis.
SY Pseudohyperkalemia Edinburgh.
SY PSHK1.
DR MIM; 194380; phenotype.
DR MedGen; C0272051.
DR MeSH; D000745.
KW KW-0360:Hereditary hemolytic anemia.
//
ID Dehydrated hereditary stomatocytosis 2.
AC DI-04597
AR DHS2.
DE An autosomal dominant hemolytic anemia characterized by primary
DE erythrocyte dehydration. Erythrocytes exhibit decreased total cation
DE and potassium content that are not accompanied by a proportional net
DE gain of sodium and water. Affected individuals typically manifest mild
DE to moderate compensated hemolytic anemia, with an increased
DE erythrocyte mean corpuscular hemoglobin concentration and a decreased
DE osmotic fragility, both of which reflect cellular dehydration. Their
DE red cells exhibit a panel of various shape abnormalities such as
DE elliptocytes, hemighosts, schizocytes, and very rare stomatocytic
DE cells. Complications such as splenomegaly and cholelithiasis,
DE resulting from increased red cell trapping in the spleen and elevated
DE bilirubin levels, respectively, may occur.
SY Desiccytosis Gardos.
SY Xerocytosis Gardos.
DR MIM; 616689; phenotype.
DR MedGen; CN233380.
DR MeSH; D000745.
KW KW-0360:Hereditary hemolytic anemia.
//
ID Dejerine-Sottas syndrome.
AC DI-00387
AR DSS.
DE A severe degenerating neuropathy of the demyelinating Charcot-Marie-
DE Tooth disease category, with onset by age 2 years. Characterized by
DE motor and sensory neuropathy with very slow nerve conduction
DE velocities, increased cerebrospinal fluid protein concentrations,
DE hypertrophic nerve changes, delayed age of walking as well as
DE areflexia. There are both autosomal dominant and autosomal recessive
DE forms of Dejerine-Sottas syndrome.
SY Charcot-Marie-Tooth disease demyelinating type 4F.
SY Charcot-Marie-Tooth disease type 3.
SY Charcot-Marie-Tooth disease type 4F.
SY Charcot-Marie-Tooth neuropathy type 4F.
SY CMT4F.
SY Hereditary motor and sensory neuropathy III.
SY HMSN3.
SY HMSN III.
SY Hypertrophic neuropathy of Dejerine-Sottas.
DR MIM; 145900; phenotype.
DR MedGen; C0011195.
DR MedGen; CN069172.
DR MedGen; CN069174.
DR MeSH; D015417.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0213:Dejerine-Sottas syndrome.
KW KW-0523:Neurodegeneration.
//
ID Delayed puberty, self-limited.
AC DI-06269
AR DPSL.
DE A condition defined as the absence of testicular enlargement in boys
DE or breast development in girls at an age that is 2-2.5 SD later than
DE the population mean. DPSL is often familial and is highly heritable,
DE most commonly seen with an autosomal dominant inheritance pattern.
SY Constitutional delay of puberty.
DR MIM; 619613; phenotype.
DR MedGen; CN301235.
DR MeSH; D011628.
//
ID Delayed sleep phase syndrome.
AC DI-03211
AR DSPS.
DE A circadian rhythm sleep disorder characterized by sleep-onset
DE insomnia and difficulty in awakening at the desired time. Patients
DE with DSPS have chronic difficulty in adjusting their sleep-onset and
DE wake-up times to occupational, school, and social activities.
DR MIM; 614163; phenotype.
DR MedGen; C0393770.
DR MedGen; C3279991.
DR MeSH; D020178.
//
ID Delpire-McNeill syndrome.
AC DI-05959
AR DELMNES.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE global developmental delay, hypotonia with delayed or absent walking,
DE bilateral sensorineural deafness, poor or absent speech, and mild to
DE severe intellectual disability. Additional variable features may
DE include spasticity or minor involvement of other organ systems, such
DE as hip dislocation or ventricular septal defect.
DR MIM; 619083; phenotype.
DR MedGen; CN293444.
DR MeSH; D065886.
KW KW-0209:Deafness.
KW KW-0991:Intellectual disability.
//
ID Dementia, Lewy body.
AC DI-01901
AR DLB.
DE A neurodegenerative disorder characterized by mental impairment
DE leading to dementia, parkinsonism, fluctuating cognitive function,
DE visual hallucinations, falls, syncopal episodes, and sensitivity to
DE neuroleptic medication. Brainstem or cortical intraneuronal
DE accumulations of aggregated proteins (Lewy bodies) are the only
DE essential pathologic features. Patients may also have hippocampal and
DE neocortical senile plaques, sometimes in sufficient number to fulfill
DE the diagnostic criteria for Alzheimer disease.
SY Cortical Lewy body disease.
SY Diffuse Lewy body disease.
SY Diffuse Lewy body disease with gaze palsy.
SY Dysphasic dementia hereditary.
SY Lewy body dementia.
SY Lewy body type senile dementia.
SY Lewy body variant of Alzheimer disease.
DR MIM; 127750; phenotype.
DR MedGen; C0752347.
DR MedGen; C1851957.
DR MedGen; C1851958.
DR MeSH; D020961.
KW KW-0026:Alzheimer disease.
KW KW-0523:Neurodegeneration.
KW KW-0908:Parkinsonism.
//
ID Dent disease 1.
AC DI-00802
AR DENT1.
DE An X-linked recessive renal disease belonging to the 'Dent disease
DE complex', a group of disorders characterized by proximal renal tubular
DE defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The
DE spectrum of phenotypic features is remarkably similar in the various
DE disorders, except for differences in the severity of bone deformities
DE and renal impairment. DENT1 patients manifest hypercalciuria,
DE hypophosphatemia, aminoaciduria, nephrocalcinosis and nephrolithiasis,
DE renal insufficiency leading to renal failure in adulthood, rickets
DE (33% of patients) and osteomalacia.
SY Nephrolithiasis 2.
SY Nephrolithiasis-hypercalciuria X-linked recessive.
SY NPHL2.
SY Urolithiasis, hypercalciuric, X-linked.
DR MIM; 300009; phenotype.
DR MedGen; C1848336.
DR MeSH; D053040.
//
ID Dent disease 2.
AC DI-00386
AR DENT2.
DE An X-linked renal disease belonging to the 'Dent disease complex', a
DE group of disorders characterized by proximal renal tubular defect,
DE hypercalciuria, nephrocalcinosis, and renal insufficiency. The
DE spectrum of phenotypic features is remarkably similar in the various
DE disorders, except for differences in the severity of bone deformities
DE and renal impairment. Characteristic abnormalities include low-
DE molecular-weight proteinuria and other features of Fanconi syndrome,
DE such as glycosuria, aminoaciduria, and phosphaturia, but typically do
DE not include proximal renal tubular acidosis. Progressive renal failure
DE is common, as are nephrocalcinosis and kidney stones.
DR MIM; 300555; phenotype.
DR MedGen; C1845167.
DR MeSH; D015499.
//
ID Dental anomalies and short stature.
AC DI-02717
AR DASS.
DE A disorder characterized by hypoplastic amelogenesis imperfecta,
DE significant short stature, brachyolmia-like anomalies including
DE platyspondyly with short pedicles, narrow intervertebral and
DE interpedicular distances, rectangular-shaped vertebrae with posterior
DE scalloping and herniation of the nuclei, and broad femoral necks.
DE Dental anomalies include widely spaced, small, yellow teeth,
DE oligodontia, and severely reduced to absent enamel.
SY Brachyolmia-amelogenesis imperfecta syndrome.
SY Platyspondyly with amelogenesis imperfecta.
SY STHAG6.
SY Tooth agenesis, selective, 6.
SY VBS.
SY Verloes Bourguignon syndrome.
DR MIM; 601216; phenotype.
DR MedGen; C1832594.
DR MeSH; D000567.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
KW KW-0986:Amelogenesis imperfecta.
//
ID Dentatorubral-pallidoluysian atrophy.
AC DI-01476
AR DRPLA.
DE Autosomal dominant neurodegenerative disorder characterized by a loss
DE of neurons in the dentate nucleus, rubrum, glogus pallidus and
DE Luys'body. Clinical features are myoclonus epilepsy, dementia, and
DE cerebellar ataxia. Onset of the disease occurs usually in the second
DE decade of life and death in the fourth.
DR MIM; 125370; phenotype.
DR MedGen; C0751781.
DR MedGen; C2931846.
//
ID Dentin dysplasia 1.
AC DI-03347
AR DTDP1.
DE A dental defect in which both primary and secondary dentitions are
DE affected. The clinical crowns of both permanent and deciduous teeth
DE are of normal shape, form and color in most cases, although they may
DE be slightly opalescent and blue or brown. Teeth may be very mobile and
DE exfoliate spontaneously because of inadequate root formation. On
DE radiographs, the roots are short and may be more pointed than normal.
DE Pulp chambers are usually absent except for a chevron-shaped remnant
DE in the crown. Root canals are usually absent.
SY Dentin dysplasia Shields type I.
SY Radicular dentin dysplasia.
SY Rootless teeth.
DR MIM; 125400; phenotype.
DR MedGen; C0399379.
DR MeSH; D003784.
DR MeSH; D003805.
//
ID Dentin dysplasia 1, with extreme microdontia and misshapen teeth.
AC DI-03348
AR DTDP1-MMT.
DE A complex dental malformation characterized by extreme microdontia,
DE oligodontia, dental shape anomalies affecting both primary and
DE permanent teeth, double permanent-tooth formation, thin enamel, and
DE very short roots with a thin associated alveolar bone, as seen in the
DE spectrum of dentin dysplasia type 1.
SY Dentin dysplasia Shields type I.
SY Radicular dentin dysplasia.
SY Rootless teeth.
DR MIM; 125400; phenotype.
DR MedGen; C3276551.
DR MeSH; D003805.
//
ID Dentin dysplasia 2.
AC DI-01477
AR DTDP2.
DE A dental defect in which the deciduous teeth are opalescent. The
DE permanent teeth are of normal shape, form, and color in most cases.
DE The root length is normal. On radiographs, the pulp chambers of
DE permanent teeth are obliterated, have a thistle-tube deformity and
DE contain pulp stones.
SY Anomalous dysplasia of dentin.
SY Coronal dentin dysplasia.
SY Dentin dysplasia Shields type II.
SY Pulpal dysplasia.
SY Pulp stones.
DR MIM; 125420; phenotype.
DR MedGen; C0399380.
DR MedGen; C1527284.
DR MeSH; D003784.
DR MeSH; D003805.
//
ID Dentinogenesis imperfecta, Shields type 2.
AC DI-01479
AR DGI2.
DE A form of dentinogenesis imperfecta, an autosomal dominant dentin
DE disorder characterized by amber-brown, opalescent teeth that fracture
DE and shed their enamel during mastication, thereby exposing the dentin
DE to rapid wear. Radiographically, the crown appears bulbous and pulpal
DE obliteration is common. The pulp chambers are initially larger than
DE normal prior and immediately after tooth eruption, and then
DE progressively close down to become almost obliterated by abnormal
DE dentin formation. Roots are short and thin. Both primary and permanent
DE teeth are affected. DGI2 is not associated with osteogenesis
DE imperfecta.
SY Capdepont teeth.
SY Dentinogenesis imperfecta 1.
SY Dentinogenesis imperfecta Shields type II.
SY Dentinogenesis imperfecta without osteogenesis imperfecta.
SY DGI1.
SY DGI-II.
SY Non-syndromic dentinogenesis imperfecta.
SY Non-syndromic DGI.
SY Opalescent dentin.
SY Opalescent teeth without osteogenesis imperfecta.
DR MIM; 125490; phenotype.
DR MedGen; C0205730.
DR MedGen; C2973527.
DR MeSH; D003811.
//
ID Dentinogenesis imperfecta, Shields type 3.
AC DI-01478
AR DGI3.
DE A form of dentinogenesis imperfecta, an autosomal dominant dentin
DE disorder characterized by amber-brown, opalescent teeth that fracture
DE and shed their enamel during mastication, thereby exposing the dentin
DE to rapid wear. Radiographically, the crown appears bulbous and pulpal
DE obliteration is common. The pulp chambers are initially larger than
DE normal prior and immediately after tooth eruption, and then
DE progressively close down to become almost obliterated by abnormal
DE dentin formation. Roots are short and thin. Both primary and permanent
DE teeth are affected. DGI3 teeth typically manifest multiple periapical
DE radiolucencies. DGI3 is not associated with osteogenesis imperfecta.
SY Brandywine type dentinogenesis imperfecta.
DR MIM; 125500; phenotype.
DR MedGen; C0399378.
DR MeSH; D003811.
//
ID Denys-Drash syndrome.
AC DI-01480
AR DDS.
DE Typical nephropathy characterized by diffuse mesangial sclerosis,
DE genital abnormalities, and/or Wilms tumor. There is phenotypic overlap
DE with WAGR syndrome and Frasier syndrome. Inheritance is autosomal
DE dominant, but most cases are sporadic.
DR MIM; 194080; phenotype.
DR MedGen; C0950121.
//
ID Dermatitis atopic 2.
AC DI-01194
AR ATOD2.
DE Atopic dermatitis is a complex, inflammatory disease with multiple
DE alleles at several loci thought to be involved in the pathogenesis. It
DE commonly begins in infancy or early childhood and is characterized by
DE a chronic relapsing form of skin inflammation, a disturbance of
DE epidermal barrier function that culminates in dry skin, and IgE-
DE mediated sensitization to food and environmental allergens. It is
DE manifested by lichenification, excoriation, and crusting, mainly on
DE the flexural surfaces of the elbow and knee.
SY Atopic eczema.
DR MIM; 605803; phenotype.
DR MedGen; C1853965.
DR MeSH; D003876.
//
ID Dermatopathia pigmentosa reticularis.
AC DI-00388
AR DPR.
DE A rare ectodermal dysplasia characterized by lifelong persistent
DE reticulate hyperpigmentation, non-cicatricial alopecia, and nail
DE dystrophy. Variable features include adermatoglyphia, hypohidrosis or
DE hyperhidrosis, and palmoplantar hyperkeratosis.
DR MIM; 125595; phenotype.
DR MedGen; C0406778.
DR MeSH; D004476.
KW KW-0038:Ectodermal dysplasia.
//
ID DeSanto-Shinawi syndrome.
AC DI-04620
AR DESSH.
DE An autosomal dominant syndrome characterized by developmental delay,
DE hypotonia, behavioral problems, eye abnormalities, constipation,
DE feeding difficulties, seizures and sleep problems. Patients exhibit
DE dysmorphic features, including broad/prominent forehead, synophrys
DE and/or bushy eyebrows, depressed nasal bridge and bulbous nasal tip.
DE Additional variable features are posteriorly rotated ears, hirsutism,
DE deep-set eyes, thin upper lip, inverted nipples, hearing loss and
DE branchial cleft anomalies.
DR MIM; 616708; phenotype.
DR MedGen; CN234870.
DR MeSH; D000015.
//
ID Desbuquois dysplasia 1.
AC DI-02521
AR DBQD1.
DE A chondrodysplasia characterized by severe prenatal and postnatal
DE growth retardation (less than -5 SD), joint laxity, short extremities,
DE progressive scoliosis, round face, midface hypoplasia, prominent
DE bulging eyes. The main radiologic features are short long bones with
DE metaphyseal splay, a 'Swedish key' appearance of the proximal femur
DE (exaggerated trochanter), and advance carpal and tarsal bone age. Two
DE forms of Desbuquois dysplasia are distinguished on the basis of the
DE presence or absence of characteristic hand anomalies: an extra
DE ossification center distal to the second metacarpal, delta phalanx,
DE bifid distal thumb phalanx, and phalangeal dislocations.
SY Desbuquois syndrome.
SY Micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification.
DR MIM; 251450; phenotype.
DR MedGen; C0432242.
DR MedGen; C3278482.
DR MeSH; D004392.
DR MeSH; D007593.
DR MeSH; D019465.
KW KW-0242:Dwarfism.
//
ID Desbuquois dysplasia 2.
AC DI-04114
AR DBQD2.
DE A chondrodysplasia characterized by severe prenatal and postnatal
DE growth retardation (less than -5 SD), joint laxity, short extremities,
DE progressive scoliosis, round face, midface hypoplasia, prominent
DE bulging eyes. The main radiologic features are short long bones with
DE metaphyseal splay, a 'Swedish key' appearance of the proximal femur
DE (exaggerated trochanter), and advance carpal and tarsal bone age. Two
DE forms of Desbuquois dysplasia are distinguished on the basis of the
DE presence or absence of characteristic hand anomalies: an extra
DE ossification center distal to the second metacarpal, delta phalanx,
DE bifid distal thumb phalanx, and phalangeal dislocations.
SY Baratela-Scott syndrome.
DR MIM; 615777; phenotype.
DR MedGen; CN186922.
DR MeSH; D004392.
DR MeSH; D007593.
DR MeSH; D019465.
KW KW-0242:Dwarfism.
//
ID Desmoid disease, hereditary.
AC DI-01711
AR DESMD.
DE An autosomal dominant disease characterized by multifocal fibromatosis
DE of the abdominal wall and mesentery. Desmoid tumors can also affect
DE paraspinal muscles, breast, occiput, arms, and lower ribs.
SY Familial infiltrative fibromatosis.
SY FIF.
DR MIM; 135290; phenotype.
DR MedGen; C1851124.
DR MedGen; C2675440.
DR MeSH; D000008.
DR MeSH; D018222.
//
ID Desmosterolosis.
AC DI-01482
AR DESMOS.
DE Rare autosomal recessive disorder characterized by multiple congenital
DE anomalies and elevated levels of the cholesterol precursor desmosterol
DE in plasma, tissue, and cultured cells.
DR MIM; 602398; phenotype.
DR MedGen; C1865596.
//
ID Developmental and epileptic encephalopathy 1.
AC DI-00471
AR DEE1.
DE A severe form of epilepsy characterized by frequent tonic seizures or
DE spasms beginning in infancy with a specific EEG finding of
DE suppression-burst patterns, characterized by high-voltage bursts
DE alternating with almost flat suppression phases. Patients may progress
DE to West syndrome, which is characterized by tonic spasms with
DE clustering, arrest of psychomotor development, and hypsarrhythmia on
DE EEG.
SY EIEE1.
SY Epileptic encephalopathy, early infantile, 1.
SY Infantile epileptic-dyskinetic encephalopathy.
SY Infantile spasm syndrome X-linked 1.
SY ISSX1.
SY Myoclonic epilepsy X-linked with intellectual disability and spasticity.
SY Ohtahara syndrome X-linked.
SY West syndrome X-linked.
SY XMESID.
DR MIM; 308350; phenotype.
DR MedGen; C0037769.
DR MedGen; C2931919.
DR MedGen; C3463992.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Developmental and epileptic encephalopathy 100.
AC DI-06361
AR DEE100.
DE A form of epileptic encephalopathy, a heterogeneous group of early-
DE onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE100 is an autosomal dominant, severe form
DE characterized by global developmental delay and onset of variable
DE types of seizures in the first months or years of life.
DR MIM; 619777; phenotype.
DR MedGen; CN307030.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Developmental and epileptic encephalopathy 101.
AC DI-06373
AR DEE101.
DE A form of epileptic encephalopathy, a heterogeneous group of early-
DE onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE101 is an autosomal recessive, severe form
DE characterized by onset of seizures in early infancy. Death in infancy
DE may occur.
DR MIM; 619814; phenotype.
DR MedGen; CN307272.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Developmental and epileptic encephalopathy 11.
AC DI-02993
AR DEE11.
DE An autosomal dominant seizure disorder characterized by neonatal or
DE infantile onset of refractory seizures with resultant delayed
DE neurologic development and persistent neurologic abnormalities.
DE Patients may progress to West syndrome, which is characterized by
DE tonic spasms with clustering, arrest of psychomotor development, and
DE hypsarrhythmia on EEG.
SY EIEE11.
SY Epileptic encephalopathy, early infantile, 11.
DR MIM; 613721; phenotype.
DR MedGen; C3150987.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 12.
AC DI-02994
AR DEE12.
DE A form of epilepsy characterized by frequent tonic seizures or spasms
DE beginning in infancy with a specific EEG finding of suppression-burst
DE patterns, characterized by high-voltage bursts alternating with almost
DE flat suppression phases. Patients may progress to West syndrome, which
DE is characterized by tonic spasms with clustering, arrest of
DE psychomotor development, and hypsarrhythmia on EEG.
SY EIEE12.
SY Epileptic encephalopathy, early infantile, 12.
DR MIM; 613722; phenotype.
DR MedGen; C3150988.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 13.
AC DI-03398
AR DEE13.
DE A form of epilepsy characterized by frequent tonic seizures or spasms
DE beginning in infancy with a specific EEG finding of suppression-burst
DE patterns, characterized by high-voltage bursts alternating with almost
DE flat suppression phases. Patients may progress to West syndrome, which
DE is characterized by tonic spasms with clustering, arrest of
DE psychomotor development, and hypsarrhythmia on EEG. DEE13 is a severe
DE form consisting of early-onset seizures, features of autism,
DE intellectual disability, ataxia, and sudden unexplained death in
DE epilepsy.
SY EIEE13.
SY Epileptic encephalopathy, early infantile, 13.
DR MIM; 614558; phenotype.
DR MedGen; C3281191.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 14.
AC DI-03632
AR DEE14.
DE A rare epileptic encephalopathy of infancy that combines
DE pharmacoresistant seizures with developmental delay. This severe
DE neurologic disorder is characterized by onset in the first 6 months of
DE life of refractory focal seizures and arrest of psychomotor
DE development. Ictal EEG shows discharges that arise randomly from
DE various areas of both hemispheres and migrate from one brain region to
DE another.
SY EIEE14.
SY Epileptic encephalopathy, early infantile, 14.
SY Malignant migrating partial seizures of infancy.
SY MMPSI.
DR MIM; 614959; phenotype.
DR MedGen; C3554195.
DR MedGen; CN162969.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 15.
AC DI-03664
AR DEE15.
DE A form of epilepsy that manifests in the neonatal or the early
DE infantile period as severely impaired cognitive and motor development,
DE due to recurrent clinical seizures or prominent interictal
DE epileptiform discharges. Patients develop infantile spasms, mainly of
DE the flexor type, between 3 and 7 months of age, which are accompanied
DE by hypsarrhythmia on EEG. Other features include poor eye contact,
DE hypotonia, primitive reflexes, and irritability. Seizures evolve
DE clinically to Lennox-Gastaut syndrome.
SY EIEE15.
SY Epileptic encephalopathy, early infantile, 15.
DR MIM; 615006; phenotype.
DR MedGen; C3554316.
DR MedGen; CN164259.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 16.
AC DI-03823
AR DEE16.
DE A severe autosomal recessive neurologic disorder characterized by
DE onset of seizures in the first weeks or months of life. Seizures can
DE be of various types, are unresponsive to medication, last for long
DE periods of time, and occur frequently. Affected infants show
DE psychomotor regression or lack of psychomotor development, as well as
DE other neurologic features such as extrapyramidal signs and hypotonia.
DE Most die in childhood.
SY EIEE16.
SY Epileptic encephalopathy, early infantile, 16.
DR MIM; 615338; phenotype.
DR MedGen; C3809173.
DR MedGen; CN178082.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 17.
AC DI-03922
AR DEE17.
DE A severe neurologic disorder characterized by onset of intractable
DE seizures in the first weeks or months of life and usually associated
DE with EEG abnormalities. Affected infants have very poor psychomotor
DE development and may have brain abnormalities, such as cerebral atrophy
DE or thin corpus callosum. Some patients may show involuntary movements.
SY EIEE17.
SY Epileptic encephalopathy, early infantile, 17.
DR MIM; 615473; phenotype.
DR MedGen; C3809606.
DR MedGen; CN180194.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 18.
AC DI-03918
AR DEE18.
DE A severe autosomal recessive neurologic disorder characterized by lack
DE of psychomotor development apparent from birth, dysmorphic facial
DE features, early onset of refractory seizures, and thick corpus
DE callosum and persistent cavum septum pellucidum on brain imaging.
SY EIEE18.
SY Epileptic encephalopathy, early infantile, 18.
DR MIM; 615476; phenotype.
DR MedGen; C3809624.
DR MedGen; CN180198.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 19.
AC DI-04092
AR DEE19.
DE A severe neurologic disorder characterized by onset of seizures in the
DE first months of life and usually associated with EEG abnormalities.
DE Affected infants have convulsive seizures (hemiclonic or generalized)
DE that are often prolonged and triggered by fever. Other seizure types
DE include focal, myoclonic, absence seizures, and drop attacks.
DE Development is normal in the first year of life with later slowing and
DE intellectual disability.
SY EIEE19.
SY Epileptic encephalopathy, early infantile, 19.
DR MIM; 615744; phenotype.
DR MedGen; C3810400.
DR MeSH; D004827.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 2.
AC DI-00472
AR DEE2.
DE A severe form of epilepsy characterized by seizures or spasms
DE beginning in infancy. Patients with epileptic encephalopathy early
DE infantile type 2 manifest features resembling Rett syndrome such as
DE microcephaly, lack of speech development, stereotypic hand movements.
DE However, DEE2 and Rett syndrome are considered two distinct entities.
SY Atypical Rett syndrome CDKL5-related.
SY Atypical Rett syndrome Hanefeld variant.
SY EIEE2.
SY Epileptic encephalopathy, early infantile, 2.
SY Infantile spasm syndrome X-linked 2.
SY ISSX2.
SY Rett syndrome early-onset seizure variant.
SY Rett syndrome variant with infantile spasms.
DR MIM; 300672; phenotype.
DR MedGen; C1839333.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Developmental and epileptic encephalopathy 21.
AC DI-04123
AR DEE21.
DE A severe disease characterized by intractable seizures, profound
DE global developmental delay, and persistent severe axial hypotonia as
DE well as appendicular hypertonia.
SY EIEE21.
SY Epileptic encephalopathy, early infantile, 21.
DR MIM; 615833; phenotype.
DR MedGen; CN188266.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 23.
AC DI-04135
AR DEE23.
DE A severe disease characterized by early-onset intractable epilepsy,
DE dysmorphic features, intellectual disability, and cortical blindness.
DE Brain imaging shows an abnormally marked pontobulbar sulcus with mild
DE pontine hypoplasia, white matter abnormalities, and atrophy in the
DE occipital lobe.
SY EIEE23.
SY Epileptic encephalopathy, early infantile, 23.
DR MIM; 615859; phenotype.
DR MedGen; CN189147.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 24.
AC DI-04145
AR DEE24.
DE A disease characterized by early-onset seizures, intellectual
DE disability of varying degrees, and behavioral disturbances or autistic
DE features in most individuals.
SY EIEE24.
SY Epileptic encephalopathy, early infantile, 24.
DR MIM; 615871; phenotype.
DR MedGen; CN189553.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta.
AC DI-04176
AR DEE25.
DE An autosomal recessive disease characterized by subclinical seizures
DE appearing in the first days of life, evolving to severe epileptic
DE disease. Affected individuals have profound or severe delayed
DE development with lack of speech, and most patients do not acquire the
DE ability to sit. Additional variable features include axial hypotonia,
DE peripheral hypertonia, and abnormal involuntary movements such as
DE dystonia and choreoathetosis. Dental abnormalities, including delayed
DE eruption, hypodontia, tooth hypoplasia, yellow discoloration, thin
DE enamel, and enamel chipping are observed in most patients.
SY EIEE25.
SY Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta.
DR MIM; 615905; phenotype.
DR MedGen; CN197173.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
KW KW-0986:Amelogenesis imperfecta.
//
ID Developmental and epileptic encephalopathy 26.
AC DI-04249
AR DEE26.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE26 patients manifest multiple types of seizures,
DE delayed psychomotor development, poor or absent speech, hypotonia,
DE hypsarrhythmia.
SY EIEE26.
SY Epileptic encephalopathy, early infantile, 26.
DR MIM; 616056; phenotype.
DR MedGen; CN220386.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 27.
AC DI-04289
AR DEE27.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent.
SY EIEE27.
SY Epileptic encephalopathy, early infantile, 27.
DR MIM; 616139; phenotype.
DR MedGen; CN224183.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 28.
AC DI-04325
AR DEE28.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent.
SY EIEE28.
SY Epileptic encephalopathy, early infantile, 28.
DR MIM; 616211; phenotype.
DR MedGen; CN225654.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 29.
AC DI-04412
AR DEE29.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE29 patients manifest severe infantile epileptic
DE encephalopathy, clubfoot, absent deep tendon reflexes, extrapyramidal
DE symptoms, and persistently deficient myelination.
SY EIEE29.
SY Epileptic encephalopathy, early infantile, 29.
DR MIM; 616339; phenotype.
DR MedGen; CN230131.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 3.
AC DI-00473
AR DEE3.
DE A severe form of epilepsy characterized by frequent tonic seizures or
DE spasms beginning in infancy with a specific EEG finding of
DE suppression-burst patterns, characterized by high-voltage bursts
DE alternating with almost flat suppression phases. DEE3 is characterized
DE by a very early onset, erratic and fragmentary myoclonus, massive
DE myoclonus, partial motor seizures and late tonic spasms. The prognosis
DE is poor, with no effective treatment, and children with the condition
DE either die within 1 to 2 years after birth or survive in a persistent
DE vegetative state.
SY Early myoclonic encephalopathy.
SY EIEE3.
SY EME.
SY Epileptic encephalopathy, early infantile, 3.
SY Neonatal epilepsy with suppression-burst pattern.
DR MIM; 609304; phenotype.
DR MedGen; C0270855.
DR MeSH; D004831.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 30.
AC DI-04413
AR DEE30.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent.
SY EIEE30.
SY Epileptic encephalopathy, early infantile, 30.
DR MIM; 616341; phenotype.
DR MedGen; CN230133.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 31.
AC DI-04414
AR DEE31.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent.
SY EIEE31.
SY Epileptic encephalopathy, early infantile, 31.
DR MIM; 616346; phenotype.
DR MedGen; CN230178.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 32.
AC DI-04415
AR DEE32.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE32 inheritance is autosomal dominant.
SY EIEE32.
SY Epileptic encephalopathy, early infantile, 32.
DR MIM; 616366; phenotype.
DR MedGen; CN230321.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 33.
AC DI-04447
AR DEE33.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent.
SY EIEE33.
SY Epileptic encephalopathy, early infantile, 33.
DR MIM; 616409; phenotype.
DR MedGen; CN231149.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 34.
AC DI-04577
AR DEE34.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE34 is characterized by onset of refractory
DE migrating focal seizures in infancy. Affected children show
DE developmental regression and are severely impaired globally.
SY EIEE34.
SY Epileptic encephalopathy, early infantile, 34.
DR MIM; 616645; phenotype.
DR MedGen; CN233362.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 35.
AC DI-04578
AR DEE35.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE35 is characterized by onset of seizures in the
DE first months of life associated with essentially no normal
DE development. Many patients die in early childhood.
SY EIEE35.
SY Epileptic encephalopathy, early infantile, 35.
DR MIM; 616647; phenotype.
DR MedGen; CN233260.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 36.
AC DI-03606
AR DEE36.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. Some DEE36 patients may present with an abnormal
DE isoelectric focusing of serum transferrin, consistent with a
DE diagnostic classification of congenital disorder of glycosylation type
DE I. Congenital disorders of glycosylation result in a wide variety of
DE clinical features, such as defects in the nervous system development,
DE psychomotor retardation, dysmorphic features, hypotonia, coagulation
DE disorders, and immunodeficiency. The broad spectrum of features
DE reflects the critical role of N-glycoproteins during embryonic
DE development, differentiation, and maintenance of cell functions.
SY CDG1S.
SY CDGIs.
SY CDG Is.
SY CDG-Is.
SY Congenital disorder of glycosylation 1s.
SY Congenital disorder of glycosylation type Is.
SY EIEE36.
SY Epileptic encephalopathy, early infantile, 36.
DR MIM; 300884; phenotype.
DR MedGen; C3550904.
DR MedGen; CN160488.
DR MeSH; D013036.
DR MeSH; D018981.
KW KW-0887:Epilepsy.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Developmental and epileptic encephalopathy 37.
AC DI-04748
AR DEE37.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE37 is an autosomal recessive, severe form
DE manifesting in the first years of life. Affected individuals show
DE hyperkinetic movement disorder with choreoathetosis, spasticity,
DE rigidity, intellectual disability, absent speech, and impaired
DE volitional movements.
SY EIEE37.
SY Epileptic encephalopathy, early infantile, 37.
DR MIM; 616981; phenotype.
DR MedGen; CN236795.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 38.
AC DI-04755
AR DEE38.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE38 inheritance is autosomal recessive.
SY EIEE38.
SY Epileptic encephalopathy, early infantile, 38.
DR MIM; 617020; phenotype.
DR MedGen; CN237399.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 39.
AC DI-02562
AR DEE39.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE39 is characterized by global hypomyelination of
DE the central nervous system, with the gray matter appearing relatively
DE unaffected. Inheritance is autosomal recessive.
SY AGC1 deficiency.
SY Aspartate-glutamate carrier 1 deficiency.
SY EIEE39.
SY Epileptic encephalopathy, early infantile, 39.
SY Global cerebral hypomyelination.
SY Hypomyelination, global cerebral.
DR MIM; 612949; phenotype.
DR MedGen; C2751855.
DR MeSH; D013036.
DR MeSH; D020279.
//
ID Developmental and epileptic encephalopathy 4.
AC DI-00474
AR DEE4.
DE A severe form of epilepsy characterized by frequent tonic seizures or
DE spasms beginning in infancy with a specific EEG finding of
DE suppression-burst patterns, characterized by high-voltage bursts
DE alternating with almost flat suppression phases. Affected individuals
DE have neonatal or infantile onset of seizures, profound intellectual
DE disability, and MRI evidence of brain hypomyelination.
SY Early myoclonic encephalopathy.
SY EIEE4.
SY EME.
SY Epileptic encephalopathy, early infantile, 4.
SY Neonatal epilepsy with suppression-burst pattern.
DR MIM; 612164; phenotype.
DR MedGen; C2677326.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Developmental and epileptic encephalopathy 40.
AC DI-04793
AR DEE40.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE40 inheritance is autosomal recessive.
SY EIEE40.
SY Epileptic encephalopathy, early infantile, 40.
DR MIM; 617065; phenotype.
DR MedGen; CN237799.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 41.
AC DI-04837
AR DEE41.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE41 inheritance is autosomal dominant.
SY EIEE41.
SY Epileptic encephalopathy, early infantile, 41.
DR MIM; 617105; phenotype.
DR MedGen; CN238497.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 42.
AC DI-04836
AR DEE42.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE42 inheritance is autosomal dominant.
SY EIEE42.
SY Epileptic encephalopathy, early infantile, 42.
DR MIM; 617106; phenotype.
DR MedGen; CN238498.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 43.
AC DI-04835
AR DEE43.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE43 inheritance is autosomal dominant.
SY EIEE43.
SY Epileptic encephalopathy, early infantile, 43.
DR MIM; 617113; phenotype.
DR MedGen; CN238499.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 44.
AC DI-04843
AR DEE44.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE44 transmission pattern is consistent with
DE autosomal recessive inheritance.
SY EIEE44.
SY Epileptic encephalopathy, early infantile, 44.
DR MIM; 617132; phenotype.
DR MedGen; CN238683.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 45.
AC DI-04844
AR DEE45.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent.
SY EIEE45.
SY Epileptic encephalopathy, early infantile, 45.
DR MIM; 617153; phenotype.
DR MedGen; CN238694.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 46.
AC DI-04845
AR DEE46.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent.
SY EIEE46.
SY Epileptic encephalopathy, early infantile, 46.
DR MIM; 617162; phenotype.
DR MedGen; CN238793.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 47.
AC DI-04846
AR DEE47.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent.
SY EIEE47.
SY Epileptic encephalopathy, early infantile, 47.
DR MIM; 617166; phenotype.
DR MedGen; CN238825.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 48.
AC DI-04937
AR DEE48.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE48 is an autosomal recessive form characterized by
DE onset of seizures in the first year of life. Affected individuals
DE manifest global developmental delay, intellectual disability, absent
DE speech, and poor, if any, motor development.
SY EIEE48.
SY Epileptic encephalopathy, early infantile, 48.
DR MIM; 617276; phenotype.
DR MedGen; CN239937.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 49.
AC DI-04919
AR DEE49.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE49 is a severe autosomal recessive form
DE characterized by onset of seizures in the neonatal period, global
DE developmental delay, intellectual disability, and additionally
DE cerebral calcifications and coarse facial features.
SY EIEE49.
SY Epileptic encephalopathy, early infantile, 49.
DR MIM; 617281; phenotype.
DR MedGen; CN239940.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 5.
AC DI-02791
AR DEE5.
DE A disorder characterized by seizures associated with hypsarrhythmia,
DE profound intellectual disability with lack of visual attention and
DE speech development, as well as spastic quadriplegia.
SY EIEE5.
SY Epileptic encephalopathy, early infantile, 5.
DR MIM; 613477; phenotype.
DR MedGen; C3150731.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Developmental and epileptic encephalopathy 50.
AC DI-04479
AR DEE50.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE50 is an autosomal recessive, progressive disease
DE with onset in infancy and favorable response to treatment with oral
DE uridine.
SY CDG1Z.
SY Congenital disorder of glycosylation 1Z.
SY EIEE50.
SY Epileptic encephalopathy, early infantile, 50.
DR MIM; 616457; phenotype.
DR MedGen; CN231447.
DR MeSH; D013036.
DR MeSH; D018981.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 51.
AC DI-04943
AR DEE51.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE51 is an autosomal recessive form characterized by
DE onset of intractable seizures and hypotonia in the first days or weeks
DE of life, and severely delayed psychomotor development.
SY EIEE51.
SY Epileptic encephalopathy, early infantile, 51.
DR MIM; 617339; phenotype.
DR MedGen; CN240510.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 52.
AC DI-04944
AR DEE52.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE52 inheritance is autosomal recessive.
SY EIEE52.
SY Epileptic encephalopathy, early infantile, 52.
DR MIM; 617350; phenotype.
DR MedGen; CN240662.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 53.
AC DI-04961
AR DEE53.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE53 inheritance is autosomal recessive.
SY EIEE53.
SY Epileptic encephalopathy, early infantile, 53.
DR MIM; 617389; phenotype.
DR MedGen; CN240908.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 54.
AC DI-04962
AR DEE54.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent.
SY EIEE54.
SY Epileptic encephalopathy, early infantile, 54.
DR MIM; 617391; phenotype.
DR MedGen; CN240910.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 55.
AC DI-05060
AR DEE55.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE55 is an autosomal recessive condition.
SY EIEE55.
SY Epileptic encephalopathy, early infantile, 55.
SY Glycosylphosphatidylinositol biosynthesis defect 14.
SY GPIBD14.
DR MIM; 617599; phenotype.
DR MedGen; CN368511.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 56.
AC DI-05090
AR DEE56.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE56 is an autosomal dominant condition.
SY EIEE56.
SY Epileptic encephalopathy, early infantile, 56.
DR MIM; 617665; phenotype.
DR MedGen; CN477042.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 57.
AC DI-05145
AR DEE57.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE57 is an autosomal dominant condition.
SY EIEE57.
SY Epileptic encephalopathy, early infantile, 57.
DR MIM; 617771; phenotype.
DR MedGen; CN633295.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 58.
AC DI-05170
AR DEE58.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE58 is an autosomal dominant condition
DE characterized by onset of refractory seizures in the first days or
DE months of life.
SY EIEE58.
SY Epileptic encephalopathy, early infantile, 58.
DR MIM; 617830; phenotype.
DR MedGen; CN757795.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 59.
AC DI-05214
AR DEE59.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE59 is an autosomal dominant condition
DE characterized by onset of refractory seizures in early infancy.
SY EIEE59.
SY Epileptic encephalopathy, early infantile, 59.
DR MIM; 617904; phenotype.
DR MedGen; CN870853.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 60.
AC DI-05226
AR DEE60.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE60 is an autosomal recessive condition
DE characterized by onset of seizures in the first months of life.
SY EIEE60.
SY Epileptic encephalopathy, early infantile, 60.
DR MIM; 617929; phenotype.
DR MedGen; CN244549.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 61.
AC DI-05227
AR DEE61.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE61 is an autosomal recessive condition
DE characterized by onset of seizures in infancy.
SY EIEE61.
SY Epileptic encephalopathy, early infantile, 61.
DR MIM; 617933; phenotype.
DR MedGen; CN244550.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 62.
AC DI-05228
AR DEE62.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE62 is characterized by onset of seizures in the
DE first year of life.
SY EIEE62.
SY Epileptic encephalopathy, early infantile, 62.
DR MIM; 617938; phenotype.
DR MedGen; CN244551.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 63.
AC DI-05248
AR DEE63.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE63 is an autosomal recessive disease with onset in
DE infancy.
SY EIEE63.
SY Epileptic encephalopathy, early infantile, 63.
DR MIM; 617976; phenotype.
DR MedGen; CN244926.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 64.
AC DI-05265
AR DEE64.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE64 is an autosomal dominant form characterized by
DE onset of seizures usually in the first year of life. Seizure types are
DE variable and include focal dyscognitive and generalized tonic-clonic
DE seizures, as well as febrile seizures in the mildest affected
DE individuals. Seizures tend to respond to medical treatment.
SY EIEE64.
SY Epileptic encephalopathy, early infantile, 64.
DR MIM; 618004; phenotype.
DR MedGen; CN248512.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 65.
AC DI-05270
AR DEE65.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE65 is an autosomal dominant form characterized by
DE onset of intractable seizures usually in the first 6 months of life
DE and severe to profound psychomotor developmental delay.
SY EIEE65.
SY Epileptic encephalopathy, early infantile, 65.
DR MIM; 618008; phenotype.
DR MedGen; CN248516.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 66.
AC DI-05304
AR DEE66.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE66 is an autosomal dominant form characterized by
DE onset of seizures in first days or weeks of life.
SY EIEE66.
SY Epileptic encephalopathy, early infantile, 66.
DR MIM; 618067; phenotype.
DR MedGen; CN252658.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 67.
AC DI-05345
AR DEE67.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE67 is an autosomal dominant form characterized by
DE onset of seizures in infancy. Later onset of seizures in childhood may
DE occur in some patients.
SY EIEE67.
SY Epileptic encephalopathy, early infantile, 67.
DR MIM; 618141; phenotype.
DR MedGen; CN257927.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 68.
AC DI-05395
AR DEE68.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE68 is an autosomal recessive form characterized by
DE onset of twitching and/or myoclonic jerks in infancy. The disorder
DE progresses to refractory generalized tonic-clonic seizures, often
DE resulting in status epilepticus, loss of developmental milestones, and
DE early death. Other features include delayed development, axial
DE hypotonia, spasticity of the limbs, and clonus.
SY EIEE68.
SY Epileptic encephalopathy, early infantile, 68.
DR MIM; 618201; phenotype.
DR MedGen; CN257487.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 69.
AC DI-05449
AR DEE69.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE69 is an autosomal dominant form characterized by
DE refractory seizures, hypotonia, and profoundly impaired development
DE often associated with macrocephaly, hyperkinetic movements, and
DE contractures. The disorder can sometimes result in early death. Some
DE patients may have a favorable seizure response to topiramate
DE medication.
SY EIEE69.
SY Epileptic encephalopathy, early infantile, 69.
DR MIM; 618285; phenotype.
DR MedGen; CN258122.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 6B.
AC DI-06102
AR DEE6B.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE6B is an autosomal dominant condition
DE characterized by onset of seizures in early infancy, profoundly
DE impaired intellectual development, and a hyperkinetic movement
DE disorder.
SY Developmental and epileptic encephalopathy 6B, non-Dravet.
DR MIM; 619317; phenotype.
DR MedGen; CN296778.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 7.
AC DI-02992
AR DEE7.
DE An autosomal dominant seizure disorder characterized by infantile
DE onset of refractory seizures with resultant delayed neurologic
DE development and persistent neurologic abnormalities.
SY EIEE7.
SY Epileptic encephalopathy, early infantile, 7.
SY Ohtahara syndrome.
DR MIM; 613720; phenotype.
DR MedGen; C3150986.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 70.
AC DI-05450
AR DEE70.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE70 is an autosomal dominant form with onset in
DE first months of life and variable severity.
SY EIEE70.
SY Epileptic encephalopathy, early infantile, 70.
DR MIM; 618298; phenotype.
DR MedGen; CN258149.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 71.
AC DI-05482
AR DEE71.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE71 is an autosomal recessive form with onset at
DE birth. Death occurs in first weeks of life.
SY EIEE71.
SY Epileptic encephalopathy, early infantile, 71.
SY Glutaminase deficiency with neonatal epileptic encephalopathy.
DR MIM; 618328; phenotype.
DR MedGen; CN258210.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 72.
AC DI-05526
AR DEE72.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE72 is an autosomal dominant form with variable
DE severity and onset in infancy.
SY EIEE72.
SY Epileptic encephalopathy, early infantile, 72.
DR MIM; 618374; phenotype.
DR MedGen; CN258271.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 73.
AC DI-05527
AR DEE73.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE73 is an autosomal dominant form with onset at
DE birth.
SY EIEE73.
SY Epileptic encephalopathy, early infantile, 73.
DR MIM; 618379; phenotype.
DR MedGen; CN258273.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 74.
AC DI-05528
AR DEE74.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE74 is an autosomal dominant form with onset in the
DE first year of life.
SY EIEE74.
SY Epileptic encephalopathy, early infantile, 74.
DR MIM; 618396; phenotype.
DR MedGen; CN258293.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 75.
AC DI-05571
AR DEE75.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE75 is an autosomal recessive form characterized by
DE onset of severe refractory seizures in the first months of life.
SY EIEE75.
SY Epileptic encephalopathy, early infantile, 75.
DR MIM; 618437; phenotype.
DR MedGen; CN258814.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 76.
AC DI-05592
AR DEE76.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE76 is an autosomal recessive form that may result
DE in death in childhood.
SY EIEE76.
SY Epileptic encephalopathy, early infantile, 76.
DR MIM; 618468; phenotype.
DR MedGen; CN260164.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 78.
AC DI-05652
AR DEE78.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE78 is an autosomal dominant form characterized by
DE onset of refractory seizures in the first days or months of life.
DE Clinical features include severe developmental delay, hypotonia,
DE microcephaly, cortical visual impairment and profound intellectual
DE disability. Some patients manifest a less severe phenotype
DE characterized by pharmacoresponsive epilepsy, autism spectrum disorder
DE and moderate intellectual disability.
SY EIEE78.
SY Epileptic encephalopathy, early infantile, 78.
DR MIM; 618557; phenotype.
DR MedGen; CN262228.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 79.
AC DI-05653
AR DEE79.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE79 is an autosomal dominant form characterized by
DE onset of refractory seizures in the first months of life. Brain
DE imaging may show hypomyelination, cerebral atrophy and thinning of the
DE corpus callosum.
SY EIEE79.
SY Epileptic encephalopathy, early infantile, 79.
DR MIM; 618559; phenotype.
DR MedGen; CN262226.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 8.
AC DI-01088
AR DEE8.
DE A disorder characterized by hyperekplexia and early infantile
DE epileptic encephalopathy. Neurologic features include exaggerated
DE startle response, seizures, impaired psychomotor development, and
DE intellectual disability. Seizures can be provoked by tactile
DE stimulation or extreme emotion.
SY EIEE8.
SY Epileptic encephalopathy, early infantile, 8.
SY Hyperekplexia with epilepsy.
SY Startle disease with epilepsy.
DR MIM; 300607; phenotype.
DR MedGen; C1845102.
DR MeSH; D013036.
DR MeSH; D013216.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 80.
AC DI-05661
AR DEE80.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE80 is an autosomal recessive form characterized by
DE onset of refractory seizures in the first year of life, severe global
DE developmental delay and/or intellectual disability. Additional
DE variable features include polyneuropathy, hearing loss, visual
DE impairment, dysmorphic or coarse facial features, and distal skeletal
DE abnormalities.
SY EIEE80.
SY Epileptic encephalopathy, early infantile, 80.
SY Glycosylphosphatidylinositol biosynthesis defect 20.
SY GPIBD20.
DR MIM; 618580; phenotype.
DR MedGen; CN262313.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 81.
AC DI-05696
AR DEE81.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE81 is an autosomal recessive form characterized by
DE onset soon after birth, little developmental progress with no eye
DE contact and no motor or cognitive development. Other features may
DE include facial dysmorphism, such as hypotonic facies and epicanthal
DE folds, as well as sensorineural hearing loss and peripheral
DE neuropathy.
SY EIEE81.
SY Epileptic encephalopathy, early infantile, 81.
DR MIM; 618663; phenotype.
DR MedGen; CN262871.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 82.
AC DI-05722
AR DEE82.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE82 is an autosomal recessive metabolic
DE encephalopathy characterized by epilepsy from the first year of life,
DE global developmental delay, hypotonia and feeding difficulties
DE apparent soon after birth, and intellectual and motor disabilities.
DE Other features include poor overall growth, progressive microcephaly
DE and biochemical abnormalities, including increased serum lactate and
DE ammonia.
SY Deficiency of mitochondrial glutamate oxaloacetate transaminase.
SY EIEE82.
SY Epileptic encephalopathy, early infantile, 82.
SY GOT2 deficiency.
DR MIM; 618721; phenotype.
DR MedGen; CN263109.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 83.
AC DI-05738
AR DEE83.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE83 is an autosomal recessive form characterized by
DE onset of frequent, intractable seizures in the first days to months of
DE life. Affected individuals have profound developmental delay with no
DE motor or language skill acquisition, and poor or absent visual
DE tracking. Many patients die in the first years of life.
SY Barakat-Perenthaler syndrome.
SY EIEE83.
SY Epileptic encephalopathy, early infantile, 83.
DR MIM; 618744; phenotype.
DR MedGen; CN263209.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 84.
AC DI-05769
AR DEE84.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE84 is an autosomal recessive form characterized by
DE onset of refractory seizures in the first months of life.
SY EIEE84.
SY Epileptic encephalopathy, early infantile, 84.
SY Jamuar syndrome.
DR MIM; 618792; phenotype.
DR MedGen; CN263317.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 85 with or without midline brain defects.
AC DI-05802
AR DEE85.
DE An X-linked form of epileptic encephalopathy, a heterogeneous group of
DE severe early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE85 is characterized by onset of severe refractory
DE seizures in the first year of life, global developmental delay with
DE impaired intellectual development and poor or absent speech, and
DE dysmorphic facial features. Many patients have midline brain defects
DE on brain imaging.
SY EIEE85.
SY Epileptic encephalopathy, early infantile, 85, with or without midline brain defects.
DR MIM; 301044; phenotype.
DR MedGen; CN272932.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 86.
AC DI-05854
AR DEE86.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE86 inheritance is autosomal recessive.
SY EIEE86.
SY Epileptic encephalopathy, early infantile, 86.
DR MIM; 618910; phenotype.
DR MedGen; CN282591.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 87.
AC DI-05860
AR DEE87.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE early-onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE87 inheritance is autosomal dominant.
SY EIEE87.
SY Epileptic encephalopathy, early infantile, 87.
DR MIM; 618916; phenotype.
DR MedGen; CN283238.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 88.
AC DI-05883
AR DEE88.
DE A form of epileptic encephalopathy, a heterogeneous group of early-
DE onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE88 is an autosomal recessive severe form
DE characterized by global developmental delay, epilepsy, and progressive
DE microcephaly.
SY EIEE88.
SY Epileptic encephalopathy, early infantile, 88.
DR MIM; 618959; phenotype.
DR MedGen; CN283282.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 89.
AC DI-05990
AR DEE89.
DE A form of epileptic encephalopathy, a heterogeneous group of early-
DE onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE89 is an autosomal recessive severe form
DE characterized by profound global developmental delay with impaired
DE intellectual development, absent speech, inability to sit or walk due
DE to axial hypotonia and spastic quadriparesis, and onset of seizures in
DE the first days or months of life.
DR MIM; 619124; phenotype.
DR MedGen; CN293592.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Developmental and epileptic encephalopathy 9.
AC DI-01533
AR DEE9.
DE A condition characterized by seizure with onset in infancy or early
DE childhood, cognitive impairment, and delayed development of variable
DE severity in some patients. Additional features include autistic signs
DE and psychosis. The disorder is sex-limited, with the phenotype being
DE restricted to females.
SY EFMR.
SY EIEE9.
SY Epileptic encephalopathy, early infantile, 9.
DR MIM; 300088; phenotype.
DR MedGen; C1848137.
DR MeSH; D008607.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Developmental and epileptic encephalopathy 90.
AC DI-06025
AR DEE90.
DE A form of epileptic encephalopathy, a heterogeneous group of early-
DE onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE90 is an X-linked form characterized by onset of
DE refractory seizures in the first days or months of life.
DR MIM; 301058; phenotype.
DR MedGen; CN295287.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Developmental and epileptic encephalopathy 94.
AC DI-03857
AR DEE94.
DE A form of epileptic encephalopathy, a heterogeneous group of early-
DE onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE94 is an autosomal dominant, severe form
DE characterized by onset of multiple seizure types in the first few
DE years of life.
SY EEOC.
SY Epileptic encephalopathy, childhood-onset.
DR MIM; 615369; phenotype.
DR MedGen; C3809278.
DR MedGen; CN178848.
DR MeSH; D004827.
KW KW-0887:Epilepsy.
//
ID Developmental and epileptic encephalopathy 96.
AC DI-06117
AR DEE96.
DE A form of epileptic encephalopathy, a heterogeneous group of early-
DE onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE96 is an autosomal dominant form characterized by
DE onset of seizures in the first days or weeks of life. Affected infants
DE also have hypotonia with respiratory insufficiency that may result in
DE premature death.
DR MIM; 619340; phenotype.
DR MedGen; CN296895.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Developmental and epileptic encephalopathy 97.
AC DI-06248
AR DEE97.
DE A form of epileptic encephalopathy, a heterogeneous group of early-
DE onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE97 is an autosomal dominant form.
DR MIM; 619561; phenotype.
DR MedGen; CN300807.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Developmental and epileptic encephalopathy 98.
AC DI-06264
AR DEE98.
DE A form of epileptic encephalopathy, a heterogeneous group of early-
DE onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE98 is an autosomal dominant form characterized by
DE onset of seizures in the first decade.
DR MIM; 619605; phenotype.
DR MedGen; CN301232.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Developmental and epileptic encephalopathy 99.
AC DI-06265
AR DEE99.
DE A form of epileptic encephalopathy, a heterogeneous group of early-
DE onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. DEE99 is an autosomal dominant form characterized by
DE onset of seizures in early childhood.
DR MIM; 619606; phenotype.
DR MedGen; CN301233.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Developmental delay and seizures with or without movement abnormalities.
AC DI-05179
AR DEDSM.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE global developmental delay, variable intellectual disability, and
DE early-onset seizures with a myoclonic component. Most patients have
DE delayed motor development and show abnormal movements, including
DE ataxia, dystonia, and tremor.
DR MIM; 617836; phenotype.
DR MedGen; CN769090.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Developmental delay with dysmorphic facies and dental anomalies.
AC DI-06057
AR DEFDA.
DE A disorder characterized by mild global developmental delay, impaired
DE intellectual development, walking by 2 to 3 years, and slow language
DE acquisition.The severity of the disorder ranges from moderate
DE cognitive deficits to mild learning difficulties or behavioral
DE abnormalities. Most patients have dysmorphic facial features, abnormal
DE dentition and non-specific visual defects. DEFDA transmission pattern
DE is consistent with autosomal dominant inheritance with incomplete
DE penetrance and variable expressivity.
DR MIM; 619228; phenotype.
DR MedGen; CN295863.
DR MeSH; D014071.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Developmental delay with or without dysmorphic facies and autism.
AC DI-05586
AR DEDDFA.
DE An autosomal dominant neurodevelopmental disorder apparent from
DE infancy or early childhood. Some patients present with intellectual
DE disability and renal, cardiac, genitourinary systems, as well as
DE structural brain abnormalities. In some cases, the phenotype is less
DE severe, has no systemic involvement and is characterized by autism
DE spectrum disorder and/or intellectual disability, sometimes associated
DE with epilepsy. Affected individuals manifest variable dysmorphic
DE features.
DR MIM; 618454; phenotype.
DR MedGen; CN259075.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
KW KW-1268:Autism spectrum disorder.
//
ID Developmental delay with or without intellectual impairment or behavioral abnormalities.
AC DI-06244
AR DDIB.
DE An autosomal dominant disorder characterized by a highly variable
DE phenotype of developmental delay, intellectual disability, learning or
DE behavioral problems, muscular hypotonia, and neonatal feeding
DE difficulties.
DR MIM; 619575; phenotype.
DR MedGen; CN301040.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Developmental delay with short stature, dysmorphic facial features, and sparse hair.
AC DI-04703
AR DEDSSH.
DE An autosomal recessive syndrome characterized by intellectual
DE disability, short stature, and craniofacial and ectodermal anomalies
DE including scaphocephaly with or without craniosynostosis, prominent
DE forehead, sparse eyebrows and hair, hypoplastic toenails and, in some
DE cases, dental anomalies.
SY Loucks-Innes syndrome.
DR MIM; 616901; phenotype.
DR MedGen; CN236358.
DR MeSH; D001848.
DR MeSH; D004476.
DR MeSH; D008607.
KW KW-0038:Ectodermal dysplasia.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
KW KW-1063:Hypotrichosis.
//
ID Developmental delay with variable intellectual impairment and behavioral abnormalities.
AC DI-05566
AR DDVIBA.
DE An autosomal dominant disorder characterized by impaired intellectual
DE development with speech difficulties, dysmorphic features, and
DE behavioral abnormalities including autism spectrum disorder, attention
DE deficit and hyperactivity. Additional variable features may include
DE hypotonia, somatic overgrowth, macrocephaly, mild distal skeletal
DE anomalies, sleep disturbances, movement disorders, and
DE gastrointestinal issues, such as constipation.
DR MIM; 618430; phenotype.
DR MedGen; CN258437.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Developmental delay with variable neurologic and brain abnormalities.
AC DI-06311
AR DENBA.
DE An autosomal dominant disorder characterized by onset of motor and
DE speech delay in early childhood. Disease severity and clinical
DE manifestations are highly variable. Most patients have delayed walking
DE and variably impaired intellectual development. Additional features
DE may include seizures, spasticity, and ocular abnormalities. Brain
DE imaging often shows thin corpus callosum and may show white matter
DE atrophy, myelination abnormalities, or enlarged ventricles.
DR MIM; 619694; phenotype.
DR MedGen; CN305919.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities.
AC DI-06262
AR DEHMBA.
DE An autosomal dominant disorder characterized by developmental delay,
DE speech delay, mild to severe intellectual disability, hypotonia,
DE musculoskeletal features, and behavioral abnormalities including
DE autistic features. Skeletal anomalies include joint hypermobility,
DE chronic musculoskeletal pain, scoliosis, and pectus defects. Affected
DE individuals also have non-specific and variable dysmorphic facial
DE features.
DR MIM; 619595; phenotype.
DR MedGen; CN301221.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy.
AC DI-06005
AR DIGFAN.
DE An autosomal dominant disease characterized by developmental delay,
DE intellectual disability, hypotonia, poor growth, short stature,
DE microcephaly, and variable craniofacial dysmorphism. Patients often
DE present weakness, hyporeflexia, and electrophysiologic abnormalities
DE consistent with an axonal sensorimotor peripheral neuropathy.
DE Additional features may include hearing loss, pigmentary retinopathy,
DE and abnormalities on brain imaging, including cerebral or cerebellar
DE atrophy, hypomyelination, and lesions in the basal ganglia or
DE brainstem. Disease severity is highly variable.
DR MIM; 619090; phenotype.
DR MedGen; CN293638.
DR MeSH; D000015.
KW KW-0242:Dwarfism.
KW KW-0622:Neuropathy.
KW KW-0991:Intellectual disability.
//
ID Developmental delay, impaired speech, and behavioral abnormalities.
AC DI-06193
AR DDISBA.
DE An autosomal dominant disorder characterized by developmental delay
DE with speech impairment, mild to severe intellectual disability, and
DE behavioral abnormalities including autistic features. Additional
DE variable manifestations may include dysmorphic facial features,
DE seizures, hypotonia, motor abnormalities, and hearing loss.
DR MIM; 619475; phenotype.
DR MedGen; CN300333.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Diabetes insipidus, nephrogenic, autosomal.
AC DI-00390
AR ANDI.
DE A disorder caused by the inability of the renal collecting ducts to
DE absorb water in response to arginine vasopressin. Characterized by
DE excessive water drinking (polydipsia), excessive urine excretion
DE (polyuria), persistent hypotonic urine, and hypokalemia. Inheritance
DE can be autosomal dominant or recessive.
SY Diabetes insipidus nephrogenic type 2.
DR MIM; 125800; phenotype.
DR MedGen; C1563706.
DR MeSH; D018500.
KW KW-0218:Diabetes insipidus.
//
ID Diabetes insipidus, nephrogenic, X-linked.
AC DI-00391
AR XNDI.
DE A disorder caused by the inability of the renal collecting ducts to
DE absorb water in response to arginine vasopressin. Characterized by
DE excessive water drinking (polydipsia), excessive urine excretion
DE (polyuria), persistent hypotonic urine, and hypokalemia.
SY Diabetes insipidus nephrogenic type 1.
DR MIM; 304800; phenotype.
DR MedGen; C1563705.
DR MeSH; D018500.
KW KW-0218:Diabetes insipidus.
//
ID Diabetes insipidus, neurohypophyseal.
AC DI-01217
AR NDI.
DE A disease characterized by persistent thirst, polydipsia and polyuria.
DE Affected individuals are apparently normal at birth, but
DE characteristically develop symptoms of vasopressin deficiency during
DE childhood.
SY CDI.
SY Diabetes insipidus cranial type.
SY Neurogenic diabetes insipidus.
SY Primary central diabetes insipidus.
DR MIM; 125700; phenotype.
DR MedGen; C0687720.
DR MeSH; D020790.
KW KW-0218:Diabetes insipidus.
//
ID Diabetes mellitus, insulin-dependent.
AC DI-01826
AR IDDM.
DE A multifactorial disorder of glucose homeostasis that is characterized
DE by susceptibility to ketoacidosis in the absence of insulin therapy.
DE Clinical features are polydipsia, polyphagia and polyuria which result
DE from hyperglycemia-induced osmotic diuresis and secondary thirst.
DE These derangements result in long-term complications that affect the
DE eyes, kidneys, nerves, and blood vessels.
DR MIM; 222100; phenotype.
DR MedGen; C0011854.
DR MeSH; D003922.
//
ID Diabetes mellitus, insulin-dependent, 10.
AC DI-02776
AR IDDM10.
DE A multifactorial disorder of glucose homeostasis that is characterized
DE by susceptibility to ketoacidosis in the absence of insulin therapy.
DE Clinical features are polydipsia, polyphagia and polyuria which result
DE from hyperglycemia-induced osmotic diuresis and secondary thirst.
DE These derangements result in long-term complications that affect the
DE eyes, kidneys, nerves, and blood vessels.
DR MIM; 601942; phenotype.
DR MedGen; C1866040.
DR MeSH; D003922.
KW KW-0219:Diabetes mellitus.
//
ID Diabetes mellitus, insulin-dependent, 12.
AC DI-02777
AR IDDM12.
DE A multifactorial disorder of glucose homeostasis that is characterized
DE by susceptibility to ketoacidosis in the absence of insulin therapy.
DE Clinical features are polydipsia, polyphagia and polyuria which result
DE from hyperglycemia-induced osmotic diuresis and secondary thirst.
DE These derangements result in long-term complications that affect the
DE eyes, kidneys, nerves, and blood vessels.
SY Insulin-dependent diabetes mellitus 12.
DR MIM; 601388; phenotype.
DR MedGen; C1832392.
DR MeSH; D003922.
KW KW-0219:Diabetes mellitus.
//
ID Diabetes mellitus, insulin-dependent, 19.
AC DI-02778
AR IDDM19.
DE A multifactorial disorder of glucose homeostasis that is characterized
DE by susceptibility to ketoacidosis in the absence of insulin therapy.
DE Clinical features are polydipsia, polyphagia and polyuria which result
DE from hyperglycemia-induced osmotic diuresis and secondary thirst.
DE These derangements result in long-term complications that affect the
DE eyes, kidneys, nerves, and blood vessels.
DR MIM; 610155; phenotype.
DR MedGen; C1857808.
DR MeSH; D003922.
KW KW-0219:Diabetes mellitus.
//
ID Diabetes mellitus, insulin-dependent, 2.
AC DI-02788
AR IDDM2.
DE A multifactorial disorder of glucose homeostasis that is characterized
DE by susceptibility to ketoacidosis in the absence of insulin therapy.
DE Clinical features are polydipsia, polyphagia and polyuria which result
DE from hyperglycemia-induced osmotic diuresis and secondary thirst.
DE These derangements result in long-term complications that affect the
DE eyes, kidneys, nerves, and blood vessels.
DR MIM; 125852; phenotype.
DR MedGen; C1852092.
DR MeSH; D003922.
KW KW-0219:Diabetes mellitus.
//
ID Diabetes mellitus, insulin-dependent, 20.
AC DI-02779
AR IDDM20.
DE A multifactorial disorder of glucose homeostasis that is characterized
DE by susceptibility to ketoacidosis in the absence of insulin therapy.
DE Clinical features are polydipsia, polyphagia and polyuria which result
DE from hyperglycemia-induced osmotic diuresis and secondary thirst.
DE These derangements result in long-term complications that affect the
DE eyes, kidneys, nerves, and blood vessels.
DR MIM; 612520; phenotype.
DR MedGen; C2675866.
DR MeSH; D003922.
KW KW-0219:Diabetes mellitus.
//
ID Diabetes mellitus, insulin-dependent, 22.
AC DI-02780
AR IDDM22.
DE A multifactorial disorder of glucose homeostasis that is characterized
DE by susceptibility to ketoacidosis in the absence of insulin therapy.
DE Clinical features are polydipsia, polyphagia and polyuria which result
DE from hyperglycemia-induced osmotic diuresis and secondary thirst.
DE These derangements result in long-term complications that affect the
DE eyes, kidneys, nerves, and blood vessels.
DR MIM; 612522; phenotype.
DR MedGen; C2675864.
DR MeSH; D003922.
KW KW-0219:Diabetes mellitus.
//
ID Diabetes mellitus, insulin-dependent, 5.
AC DI-05295
AR IDDM5.
DE A form of diabetes mellitus, a multifactorial disorder of glucose
DE homeostasis that is characterized by susceptibility to ketoacidosis in
DE the absence of insulin therapy. Clinical features are polydipsia,
DE polyphagia and polyuria which result from hyperglycemia-induced
DE osmotic diuresis and secondary thirst. These derangements result in
DE long-term complications that affect the eyes, kidneys, nerves, and
DE blood vessels.
DR MIM; 600320; phenotype.
DR MedGen; C1838260.
DR MeSH; D003922.
KW KW-0219:Diabetes mellitus.
//
ID Diabetes mellitus, ketosis-prone.
AC DI-02784
AR KPD.
DE An atypical form of diabetes mellitus characterized by an acute
DE initial presentation with severe hyperglycemia and ketosis, as seen in
DE classic type 1 diabetes, but after initiation of insulin therapy,
DE prolonged remission is often possible with cessation of insulin
DE therapy and maintenance of appropriate metabolic control. Metabolic
DE studies show a markedly blunted insulin secretory response to glucose,
DE partially reversible with the improvement of blood glucose control.
DE Variable levels of insulin resistance are observed, especially in
DE obese patients. Pancreatic beta-cell autoimmunity is a rare finding.
DR MIM; 612227; phenotype.
DR MedGen; C0743110.
DR MeSH; D003920.
KW KW-0219:Diabetes mellitus.
//
ID Diabetes mellitus, neonatal, with congenital hypothyroidism.
AC DI-02031
AR NDH.
DE A syndrome of neonatal diabetes syndrome associated with congenital
DE hypothyroidism, congenital glaucoma, hepatic fibrosis and polycystic
DE kidneys.
SY NDH syndrome.
DR MIM; 610199; phenotype.
DR MedGen; C1857775.
DR MeSH; D003409.
DR MeSH; D003920.
KW KW-0219:Diabetes mellitus.
KW KW-0984:Congenital hypothyroidism.
//
ID Diabetes mellitus, non-insulin-dependent.
AC DI-02060
AR NIDDM.
DE A multifactorial disorder of glucose homeostasis caused by a lack of
DE sensitivity to the body's own insulin. Affected individuals usually
DE have an obese body habitus and manifestations of a metabolic syndrome
DE characterized by diabetes, insulin resistance, hypertension and
DE hypertriglyceridemia. The disease results in long-term complications
DE that affect the eyes, kidneys, nerves, and blood vessels.
SY Adult-onset diabetes mellitus.
SY Diabetes mellitus type 2.
SY Diabetes mellitus type II.
SY Maturity-onset diabetes.
SY Noninsulin-dependent diabetes mellitus.
SY T2D.
DR MIM; 125853; phenotype.
DR MedGen; C0011860.
DR MedGen; C1852091.
DR MeSH; D003924.
KW KW-0219:Diabetes mellitus.
//
ID Diabetes mellitus, non-insulin-dependent, 1.
AC DI-02781
AR NIDDM1.
DE A multifactorial disorder of glucose homeostasis caused by a lack of
DE sensitivity to the body's own insulin. Affected individuals usually
DE have an obese body habitus and manifestations of a metabolic syndrome
DE characterized by diabetes, insulin resistance, hypertension and
DE hypertriglyceridemia. The disease results in long-term complications
DE that affect the eyes, kidneys, nerves, and blood vessels.
DR MIM; 601283; phenotype.
DR MedGen; C1832544.
DR MeSH; D003924.
KW KW-0219:Diabetes mellitus.
//
ID Diabetes mellitus, non-insulin-dependent, 5.
AC DI-04265
AR NIDDM5.
DE A multifactorial disorder of glucose homeostasis caused by a lack of
DE sensitivity to the body's own insulin. Affected individuals usually
DE have an obese body habitus and manifestations of a metabolic syndrome
DE characterized by diabetes, insulin resistance, hypertension and
DE hypertriglyceridemia. The disease results in long-term complications
DE that affect the eyes, kidneys, nerves, and blood vessels.
DR MIM; 616087; phenotype.
DR MedGen; CN221135.
DR MeSH; D003924.
KW KW-0219:Diabetes mellitus.
//
ID Diabetes mellitus, permanent neonatal, 1.
AC DI-02152
AR PNDM1.
DE An autosomal recessive form of permanent neonatal diabetes mellitus, a
DE type of diabetes characterized by onset of persistent hyperglycemia
DE within the first six months of life. Initial clinical manifestations
DE include intrauterine growth retardation, hyperglycemia, glycosuria,
DE osmotic polyuria, severe dehydration, and failure to thrive.
SY DEND.
SY Developmental delay epilepsy and neonatal diabetes.
SY Diabetes mellitus permanent neonatal with neurologic features.
SY PDMI.
SY Permanent diabetes mellitus of infancy.
DR MIM; 606176; phenotype.
DR MedGen; C1833102.
DR MedGen; C1833104.
DR MedGen; C1853564.
DR MeSH; D003920.
KW KW-0219:Diabetes mellitus.
//
ID Diabetes mellitus, permanent neonatal, 2.
AC DI-05823
AR PNDM2.
DE A form of permanent neonatal diabetes mellitus, a type of diabetes
DE characterized by onset of persistent hyperglycemia within the first
DE six months of life. Initial clinical manifestations include
DE intrauterine growth retardation, hyperglycemia, glycosuria, osmotic
DE polyuria, severe dehydration, and failure to thrive. Some PNDM2
DE patients may also have developmental delay, muscle weakness, epilepsy
DE and dysmorphic features. PNDM2 transmission pattern is consistent with
DE autosomal dominant inheritance.
SY DEND1.
SY Developmental delay, epilepsy, and neonatal diabetes 1.
SY Diabetes, permanent neonatal 2, with or without neurologic features.
DR MIM; 618856; phenotype.
DR MedGen; CN280868.
DR MeSH; D003920.
KW KW-0219:Diabetes mellitus.
//
ID Diabetes mellitus, permanent neonatal, 3.
AC DI-05824
AR PNDM3.
DE A form of permanent neonatal diabetes mellitus, a type of diabetes
DE characterized by onset of persistent hyperglycemia within the first
DE six months of life. Initial clinical manifestations include
DE intrauterine growth retardation, hyperglycemia, glycosuria, osmotic
DE polyuria, severe dehydration, and failure to thrive. Some PNDM3
DE patients may also have developmental delay, muscle weakness, and
DE epilepsy. PNDM3 transmission pattern is consistent with autosomal
DE dominant or autosomal recessive inheritance.
SY DEND2.
SY Developmental delay, epilepsy, and neonatal diabetes 2.
SY Diabetes, permanent neonatal 3, with or without neurologic features.
DR MIM; 618857; phenotype.
DR MedGen; CN280869.
DR MeSH; D003920.
KW KW-0219:Diabetes mellitus.
//
ID Diabetes mellitus, permanent neonatal, 4.
AC DI-05825
AR PNDM4.
DE A form of permanent neonatal diabetes mellitus, a type of diabetes
DE characterized by onset of persistent hyperglycemia within the first
DE six months of life. Initial clinical manifestations include
DE intrauterine growth retardation, hyperglycemia, glycosuria, osmotic
DE polyuria, severe dehydration, and failure to thrive. PNDM4
DE transmission pattern is consistent with autosomal dominant or
DE autosomal recessive inheritance.
DR MIM; 618858; phenotype.
DR MedGen; CN280870.
DR MeSH; D003920.
KW KW-0219:Diabetes mellitus.
//
ID Diabetes mellitus, transient neonatal, 1.
AC DI-02380
AR TNDM1.
DE An autosomal dominant form of diabetes mellitus defined by the onset
DE of mild-to-severe hyperglycemia within the first month of life. In
DE about half of the neonates, diabetes is transient and resolves at a
DE median age of 3 months, whereas the rest have a permanent form of
DE diabetes.
SY 6q24-related diabetes mellitus.
DR MIM; 601410; phenotype.
DR MedGen; C1832386.
DR MeSH; D003920.
KW KW-0219:Diabetes mellitus.
//
ID Diamond-Blackfan anemia 1.
AC DI-00392
AR DBA1.
DE A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE hypoplastic anemia that usually presents early in infancy. Diamond-
DE Blackfan anemia is characterized by a moderate to severe macrocytic
DE anemia, erythroblastopenia, and an increased risk of developing
DE leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with
DE short stature and congenital anomalies, the most frequent being
DE craniofacial (Pierre-Robin syndrome and cleft palate), thumb and
DE urogenital anomalies.
SY Aase-Smith syndrome II.
SY Aase syndrome.
SY BDS.
SY Blackfan-Diamond syndrome.
SY Chronic congenital aregenerative anemia.
SY Congenital erythroid hypoplastic anemia.
SY Congenital hypoplastic anemia of Blackfan and Diamond.
SY DBA.
SY Erythrogenesis imperfecta.
SY Pure hereditary red cell aplasia.
DR MIM; 105650; phenotype.
DR MedGen; C1260899.
DR MedGen; C2676137.
DR MeSH; D029503.
KW KW-1024:Diamond-Blackfan anemia.
//
ID Diamond-Blackfan anemia 10.
AC DI-02685
AR DBA10.
DE A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE hypoplastic anemia that usually presents early in infancy. Diamond-
DE Blackfan anemia is characterized by a moderate to severe macrocytic
DE anemia, erythroblastopenia, and an increased risk of malignancy. 30 to
DE 40% of Diamond-Blackfan anemia patients present with short stature and
DE congenital anomalies, the most frequent being craniofacial (Pierre-
DE Robin syndrome and cleft palate), thumb and urogenital anomalies.
DR MIM; 613309; phenotype.
DR MedGen; C2750080.
DR MeSH; D029503.
KW KW-1024:Diamond-Blackfan anemia.
//
ID Diamond-Blackfan anemia 11.
AC DI-03608
AR DBA11.
DE A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE hypoplastic anemia that usually presents early in infancy. Diamond-
DE Blackfan anemia is characterized by a moderate to severe macrocytic
DE anemia, erythroblastopenia, and an increased risk of malignancy. 30 to
DE 40% of Diamond-Blackfan anemia patients present with short stature and
DE congenital anomalies, the most frequent being craniofacial (Pierre-
DE Robin syndrome and cleft palate), thumb and urogenital anomalies.
DR MIM; 614900; phenotype.
DR MedGen; C3554042.
DR MedGen; CN160292.
DR MeSH; D029503.
KW KW-1024:Diamond-Blackfan anemia.
//
ID Diamond-Blackfan anemia 12.
AC DI-03972
AR DBA12.
DE A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE hypoplastic anemia that usually presents early in infancy. Diamond-
DE Blackfan anemia is characterized by a moderate to severe macrocytic
DE anemia, erythroblastopenia, and an increased risk of malignancy. 30 to
DE 40% of Diamond-Blackfan anemia patients present with short stature and
DE congenital anomalies, the most frequent being craniofacial (Pierre-
DE Robin syndrome and cleft palate), thumb and urogenital anomalies.
DR MIM; 615550; phenotype.
DR MedGen; C3809888.
DR MedGen; CN182206.
DR MeSH; D029503.
KW KW-1024:Diamond-Blackfan anemia.
//
ID Diamond-Blackfan anemia 13.
AC DI-04161
AR DBA13.
DE A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE hypoplastic anemia that usually presents early in infancy. Diamond-
DE Blackfan anemia is characterized by a moderate to severe macrocytic
DE anemia, erythroblastopenia, and an increased risk of malignancy. 30 to
DE 40% of Diamond-Blackfan anemia patients present with short stature and
DE congenital anomalies, the most frequent being craniofacial (Pierre-
DE Robin syndrome and cleft palate), thumb and urogenital anomalies.
DR MIM; 615909; phenotype.
DR MedGen; CN197014.
DR MeSH; D029503.
KW KW-1024:Diamond-Blackfan anemia.
//
ID Diamond-Blackfan anemia 14, with mandibulofacial dysostosis.
AC DI-04366
AR DBA14.
DE A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE hypoplastic anemia that usually presents early in infancy. Diamond-
DE Blackfan anemia is characterized by a moderate to severe macrocytic
DE anemia, erythroblastopenia, and an increased risk of malignancy. 30 to
DE 40% of Diamond-Blackfan anemia patients present with short stature and
DE congenital anomalies, the most frequent being craniofacial (Pierre-
DE Robin syndrome and cleft palate), thumb and urogenital anomalies.
DR MIM; 300946; phenotype.
DR MedGen; CN228774.
DR MeSH; D029503.
KW KW-1024:Diamond-Blackfan anemia.
//
ID Diamond-Blackfan anemia 15, with mandibulofacial dysostosis.
AC DI-04370
AR DBA15.
DE A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE hypoplastic anemia that usually presents early in infancy. Diamond-
DE Blackfan anemia is characterized by a moderate to severe macrocytic
DE anemia, erythroblastopenia, and an increased risk of malignancy. 30 to
DE 40% of Diamond-Blackfan anemia patients present with short stature and
DE congenital anomalies, the most frequent being craniofacial (Pierre-
DE Robin syndrome and cleft palate), thumb and urogenital anomalies.
SY Diamond-Blackfan anemia with microtia and cleft palate.
DR MIM; 606164; phenotype.
DR MedGen; C1853576.
DR MeSH; D029503.
KW KW-1024:Diamond-Blackfan anemia.
//
ID Diamond-Blackfan anemia 16.
AC DI-04958
AR DBA16.
DE A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE hypoplastic anemia that usually presents early in infancy. Diamond-
DE Blackfan anemia is characterized by a moderate to severe macrocytic
DE anemia, erythroblastopenia, and an increased risk of malignancy. 30 to
DE 40% of Diamond-Blackfan anemia patients present with short stature and
DE congenital anomalies, the most frequent being craniofacial (Pierre-
DE Robin syndrome and cleft palate), thumb and urogenital anomalies.
DR MIM; 617408; phenotype.
DR MedGen; CN241838.
DR MeSH; D029503.
KW KW-1024:Diamond-Blackfan anemia.
//
ID Diamond-Blackfan anemia 17.
AC DI-04959
AR DBA17.
DE A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE hypoplastic anemia that usually presents early in infancy. Diamond-
DE Blackfan anemia is characterized by a moderate to severe macrocytic
DE anemia, erythroblastopenia, and an increased risk of malignancy. 30 to
DE 40% of Diamond-Blackfan anemia patients present with short stature and
DE congenital anomalies, the most frequent being craniofacial (Pierre-
DE Robin syndrome and cleft palate), thumb and urogenital anomalies.
DR MIM; 617409; phenotype.
DR MedGen; CN241839.
DR MeSH; D029503.
KW KW-1024:Diamond-Blackfan anemia.
//
ID Diamond-Blackfan anemia 18.
AC DI-05472
AR DBA18.
DE A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE hypoplastic anemia that usually presents early in infancy. Diamond-
DE Blackfan anemia is characterized by a moderate to severe macrocytic
DE anemia, erythroblastopenia, and an increased risk of malignancy. 30 to
DE 40% of Diamond-Blackfan anemia patients present with short stature and
DE congenital anomalies, the most frequent being craniofacial (Pierre-
DE Robin syndrome and cleft palate), thumb and urogenital anomalies.
DE DBA18 inheritance is autosomal dominant.
DR MIM; 618310; phenotype.
DR MedGen; CN258194.
DR MeSH; D029503.
KW KW-1024:Diamond-Blackfan anemia.
//
ID Diamond-Blackfan anemia 19.
AC DI-05473
AR DBA19.
DE A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE hypoplastic anemia that usually presents early in infancy. Diamond-
DE Blackfan anemia is characterized by a moderate to severe macrocytic
DE anemia, erythroblastopenia, and an increased risk of malignancy. 30 to
DE 40% of Diamond-Blackfan anemia patients present with short stature and
DE congenital anomalies, the most frequent being craniofacial (Pierre-
DE Robin syndrome and cleft palate), thumb and urogenital anomalies.
DE DBA19 inheritance is autosomal dominant.
DR MIM; 618312; phenotype.
DR MedGen; CN258195.
DR MeSH; D029503.
KW KW-1024:Diamond-Blackfan anemia.
//
ID Diamond-Blackfan anemia 20.
AC DI-05474
AR DBA20.
DE A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE hypoplastic anemia that usually presents early in infancy. Diamond-
DE Blackfan anemia is characterized by a moderate to severe macrocytic
DE anemia, erythroblastopenia, and an increased risk of malignancy. 30 to
DE 40% of Diamond-Blackfan anemia patients present with short stature and
DE congenital anomalies, the most frequent being craniofacial (Pierre-
DE Robin syndrome and cleft palate), thumb and urogenital anomalies.
DE DBA20 inheritance is autosomal dominant.
DR MIM; 618313; phenotype.
DR MedGen; CN258196.
DR MeSH; D029503.
KW KW-1024:Diamond-Blackfan anemia.
//
ID Diamond-Blackfan anemia 3.
AC DI-00393
AR DBA3.
DE A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE hypoplastic anemia that usually presents early in infancy. Diamond-
DE Blackfan anemia is characterized by a moderate to severe macrocytic
DE anemia, erythroblastopenia, and an increased risk of developing
DE leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with
DE short stature and congenital anomalies, the most frequent being
DE craniofacial (Pierre-Robin syndrome and cleft palate), thumb and
DE urogenital anomalies.
DR MIM; 610629; phenotype.
DR MedGen; C1857719.
DR MeSH; D029503.
KW KW-1024:Diamond-Blackfan anemia.
//
ID Diamond-Blackfan anemia 4.
AC DI-00394
AR DBA4.
DE A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE hypoplastic anemia that usually presents early in infancy. Diamond-
DE Blackfan anemia is characterized by a moderate to severe macrocytic
DE anemia, erythroblastopenia, and an increased risk of developing
DE leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with
DE short stature and congenital anomalies, the most frequent being
DE craniofacial (Pierre-Robin syndrome and cleft palate), thumb and
DE urogenital anomalies.
DR MIM; 612527; phenotype.
DR MedGen; C2675860.
DR MeSH; D029503.
KW KW-1024:Diamond-Blackfan anemia.
//
ID Diamond-Blackfan anemia 5.
AC DI-00395
AR DBA5.
DE A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE hypoplastic anemia that usually presents early in infancy. Diamond-
DE Blackfan anemia is characterized by a moderate to severe macrocytic
DE anemia, erythroblastopenia, and an increased risk of malignancy. 30 to
DE 40% of Diamond-Blackfan anemia patients present with short stature and
DE congenital anomalies, the most frequent being craniofacial (Pierre-
DE Robin syndrome and cleft palate), thumb and urogenital anomalies.
DR MIM; 612528; phenotype.
DR MedGen; C2675859.
DR MeSH; D029503.
KW KW-1024:Diamond-Blackfan anemia.
//
ID Diamond-Blackfan anemia 6.
AC DI-00396
AR DBA6.
DE A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE hypoplastic anemia that usually presents early in infancy. Diamond-
DE Blackfan anemia is characterized by a moderate to severe macrocytic
DE anemia, erythroblastopenia, and an increased risk of malignancy. 30 to
DE 40% of Diamond-Blackfan anemia patients present with short stature and
DE congenital anomalies, the most frequent being craniofacial (Pierre-
DE Robin syndrome and cleft palate), thumb and urogenital anomalies.
SY Aase-Smith syndrome II.
SY Aase syndrome.
DR MIM; 612561; phenotype.
DR MedGen; C0265265.
DR MeSH; D029503.
KW KW-1024:Diamond-Blackfan anemia.
//
ID Diamond-Blackfan anemia 7.
AC DI-00397
AR DBA7.
DE A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE hypoplastic anemia that usually presents early in infancy. Diamond-
DE Blackfan anemia is characterized by a moderate to severe macrocytic
DE anemia, erythroblastopenia, and an increased risk of malignancy. 30 to
DE 40% of Diamond-Blackfan anemia patients present with short stature and
DE congenital anomalies, the most frequent being craniofacial (Pierre-
DE Robin syndrome and cleft palate), thumb and urogenital anomalies.
DR MIM; 612562; phenotype.
DR MedGen; C2675512.
DR MeSH; D029503.
KW KW-1024:Diamond-Blackfan anemia.
//
ID Diamond-Blackfan anemia 8.
AC DI-00398
AR DBA8.
DE A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE hypoplastic anemia that usually presents early in infancy. Diamond-
DE Blackfan anemia is characterized by a moderate to severe macrocytic
DE anemia, erythroblastopenia, and an increased risk of malignancy. 30 to
DE 40% of Diamond-Blackfan anemia patients present with short stature and
DE congenital anomalies, the most frequent being craniofacial (Pierre-
DE Robin syndrome and cleft palate), thumb and urogenital anomalies.
DR MIM; 612563; phenotype.
DR MedGen; C2675511.
DR MeSH; D029503.
KW KW-1024:Diamond-Blackfan anemia.
//
ID Diamond-Blackfan anemia 9.
AC DI-02684
AR DBA9.
DE A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE hypoplastic anemia that usually presents early in infancy. Diamond-
DE Blackfan anemia is characterized by a moderate to severe macrocytic
DE anemia, erythroblastopenia, and an increased risk of malignancy. 30 to
DE 40% of Diamond-Blackfan anemia patients present with short stature and
DE congenital anomalies, the most frequent being craniofacial (Pierre-
DE Robin syndrome and cleft palate), thumb and urogenital anomalies.
DR MIM; 613308; phenotype.
DR MedGen; C2750081.
DR MeSH; D029503.
KW KW-1024:Diamond-Blackfan anemia.
//
ID Diamond-Blackfan anemia-like.
AC DI-05222
AR DBAL.
DE An autosomal recessive hematologic disease characterized by severe red
DE cell hypoplastic anemia, selective absence of red cell precursors and
DE progenitors seen on bone marrow biopsy, and increased serum
DE erythropoietin.
DR MIM; 617911; phenotype.
DR MedGen; CN873436.
DR MeSH; D029503.
//
ID Diaphanospondylodysostosis.
AC DI-03157
AR DSD.
DE A rare, recessively inherited, perinatal lethal skeletal disorder. The
DE primary skeletal characteristics of the phenotype include a small
DE chest, abnormal vertebral segmentation, and posterior rib gaps
DE containing incompletely differentiated mesenchymal tissue. Consistent
DE craniofacial features include ocular hypertelorism, epicanthal folds,
DE a depressed nasal bridge with a short nose, and low-set ears. The most
DE commonly described extraskeletal finding is nephroblastomatosis with
DE cystic kidneys, but other visceral findings have been described in
DE some cases.
SY Defect in vertebral ossification with nephrogenic rests.
DR MIM; 608022; phenotype.
DR MedGen; C1842691.
DR MeSH; D004413.
//
ID Diaphragmatic hernia 3.
AC DI-01485
AR DIH3.
DE Form of congenital diaphragmatic hernia (CDH). CDH refers to a group
DE of congenital defects in the structural integrity of the diaphragm
DE associated with often lethal pulmonary hypoplasia and pulmonary
DE hypertension.
DR MIM; 610187; phenotype.
DR MedGen; C1857781.
//
ID Diaphyseal medullary stenosis with malignant fibrous histiocytoma.
AC DI-03464
AR DMSMFH.
DE An autosomal dominant bone dysplasia characterized by pathologic
DE fractures due to abnormal cortical growth and diaphyseal medullary
DE stenosis. The fractures heal poorly, and there is progressive bowing
DE of the lower extremities. Some patients show a limb-girdle myopathy,
DE with muscle weakness and atrophy. Approximately 35% of affected
DE individuals develop an aggressive form of bone sarcoma consistent with
DE malignant fibrous histiocytoma or osteosarcoma.
SY BDMF.
SY Bone dysplasia with malignant fibrous histiocytoma.
SY Bone dysplasia with medullary fibrosarcoma.
SY DMS-MFH.
SY Limb-girdle myopathy with bone fragility.
DR MIM; 112250; phenotype.
DR MedGen; C1862177.
DR MeSH; D001848.
DR MeSH; D051677.
//
ID Diarrhea 1, secretory chloride, congenital.
AC DI-01395
AR DIAR1.
DE A disease characterized by voluminous watery stools containing an
DE excess of chloride. The children with this disease are often
DE premature.
SY Chloridorrhea congenital.
SY CLD.
SY Congenital chloride diarrhea Finnish type.
SY Diarrhea 1 secretory chloride congenital.
DR MIM; 214700; phenotype.
DR MedGen; C0267662.
DR MeSH; D003968.
//
ID Diarrhea 10, protein-losing enteropathy type.
AC DI-05384
AR DIAR10.
DE An autosomal recessive, congenital diarrheal disorder characterized by
DE intractable secretory diarrhea with massive protein loss due to leaky
DE fenestrated capillaries, severe hypoalbuminemia,
DE hypogammaglobulinemia, hypertriglyceridemia, and electrolyte
DE abnormalities. Disease severity is variable and death in infancy may
DE occur in severe cases. Some patients show facial dysmorphic features,
DE and cardiac and renal abnormalities.
DR MIM; 618183; phenotype.
DR MedGen; CN257782.
DR MeSH; D003968.
//
ID Diarrhea 11, malabsorptive, congenital.
AC DI-05692
AR DIAR11.
DE A disease characterized by severe, life-threatening watery diarrhea
DE associated with generalized malabsorption and a paucity of
DE enteroendocrine cells. DIAR11 is characterized by onset of intractable
DE diarrhea within the first few weeks of life.
SY IDIS.
SY Intractable diarrhea of infancy syndrome.
DR MIM; 618662; phenotype.
DR MedGen; CN262701.
DR MeSH; D003968.
//
ID Diarrhea 12, with microvillus atrophy.
AC DI-06171
AR DIAR12.
DE An autosomal recessive congenital enteropathy characterized by
DE intractable secretory diarrhea, resulting in severe dehydration and
DE metabolic acidosis. DIAR12 can be diagnosed based on variable loss of
DE brush-border microvilli, microvillus inclusions, and accumulation of
DE subapical vesicles in villus enterocytes.
SY Microvillus inclusion disease 2.
SY MVID2.
DR MIM; 619445; phenotype.
DR MedGen; CN300062.
DR MeSH; D003968.
DR MeSH; D008286.
//
ID Diarrhea 2, with microvillus atrophy.
AC DI-01979
AR DIAR2.
DE A disease characterized by onset of intractable life-threatening
DE watery diarrhea during infancy. Two forms are recognized: early-onset
DE microvillus inclusion disease with diarrhea beginning in the neonatal
DE period, and late-onset, with first symptoms appearing after 3 or 4
DE months of life.
SY Congenital familial protracted diarrhea with enterocyte brush-border abnormalities.
SY Davidson disease.
SY Intractable diarrhea of infancy.
SY Microvillus atrophy congenital.
SY Microvillus inclusion disease 1.
SY MVID1.
DR MIM; 251850; phenotype.
DR MedGen; C0341306.
DR MeSH; D003968.
//
ID Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies.
AC DI-01417
AR DIAR3.
DE A disease characterized by life-threatening secretory diarrhea, severe
DE metabolic acidosis and hyponatremia. Hyponatremia is secondary to
DE extraordinarily high fecal sodium loss, with low or normal excretion
DE of urinary sodium, in the absence of infectious, autoimmune and
DE endocrine causes.
SY Congenital sodium diarrhea.
SY CSD.
SY Diarrhea 3, secretory sodium, congenital, syndromic.
DR MIM; 270420; phenotype.
DR MedGen; C0267663.
DR MedGen; C2678346.
DR MeSH; D003968.
//
ID Diarrhea 4, malabsorptive, congenital.
AC DI-01408
AR DIAR4.
DE A disease characterized by severe, life-threatening watery diarrhea
DE associated with generalized malabsorption and a paucity of
DE enteroendocrine cells.
SY Enteric anendocrinosis.
DR MIM; 610370; phenotype.
DR MedGen; C1835888.
DR MeSH; D003968.
//
ID Diarrhea 5, with tufting enteropathy, congenital.
AC DI-02845
AR DIAR5.
DE An intractable diarrhea of infancy characterized by villous atrophy
DE and absence of inflammation, with intestinal epithelial cell dysplasia
DE manifesting as focal epithelial tufts in the duodenum and jejunum.
SY Congenital tufting enteropathy.
SY CTE.
SY Intestinal epithelial cell dysplasia.
DR MIM; 613217; phenotype.
DR MedGen; C2750737.
DR MeSH; D003968.
//
ID Diarrhea 6.
AC DI-03451
AR DIAR6.
DE A relatively mild, early-onset chronic diarrhea that may be associated
DE with increased susceptibility to inflammatory bowel disease, small
DE bowel obstruction, and esophagitis.
DR MIM; 614616; phenotype.
DR MedGen; C3553270.
DR MedGen; CN123925.
DR MeSH; D003967.
//
ID Diarrhea 7, protein-losing enteropathy type.
AC DI-04130
AR DIAR7.
DE A life-threatening disease characterized by severe, intractable,
DE watery diarrhea.
DR MIM; 615863; phenotype.
DR MedGen; C4014516.
DR MeSH; D003968.
//
ID Diarrhea 8, secretory sodium, congenital.
AC DI-04683
AR DIAR8.
DE A disease characterized by watery secretory diarrhea with prenatal
DE onset, prominent abdominal distension after birth due to dilated
DE fluid-filled loops of intestine, elevated fecal sodium concentrations
DE and low urinary sodium concentrations.
DR MIM; 616868; phenotype.
DR MedGen; CN235609.
DR MeSH; D003968.
//
ID Diarrhea 9.
AC DI-05373
AR DIAR9.
DE An autosomal recessive form of chronic diarrhea characterized by
DE neonatal-onset of osmotic diarrhea that is not substrate specific,
DE abnormal crypt and villus architecture, and significant fat
DE malabsorption evidenced by high levels of fecal fat.
DR MIM; 618168; phenotype.
DR MedGen; CN257757.
DR MeSH; D003968.
//
ID Diastrophic dysplasia.
AC DI-00399
AR DTD.
DE An autosomal recessive disease characterized by osteochondrodysplasia
DE with clinical features including dwarfism, spinal deformation, and
DE specific joint abnormalities.
SY DD.
SY Diastrophic dwarfism.
DR MIM; 222600; phenotype.
DR MedGen; C0220726.
DR MedGen; C1857255.
DR MeSH; D004392.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Dicarboxylic aminoaciduria.
AC DI-04231
AR DCBXA.
DE An autosomal recessive disorder characterized by abnormal excretion of
DE urinary glutamate and aspartate, resulting from the incomplete
DE reabsorption of anionic amino acids from the glomerular filtrate in
DE the kidney. It can be associated with intellectual disability.
SY Glutamate-aspartate transport defect.
DR MIM; 222730; phenotype.
DR MedGen; C1857253.
DR MeSH; D000608.
DR MeSH; D008607.
//
ID Diencephalic-mesencephalic junction dysplasia syndrome 1.
AC DI-05123
AR DMJDS1.
DE An autosomal recessive syndrome characterized by severe global
DE developmental delay with profound intellectual disability, spasticity
DE or dystonia, and congenital microcephaly. Brain imaging shows
DE hypothalamic midbrain dysplasia, diencephalic-mesencephalic dysplasia,
DE and intracerebral calcifications.
SY Microcephaly, seizures, spasticity, and brain calcifications.
SY Microcephaly with spastic quadriplegia.
SY MISSBC.
DR MIM; 251280; phenotype.
DR MedGen; C1855055.
DR MeSH; D008831.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
KW KW-0905:Primary microcephaly.
KW KW-0991:Intellectual disability.
//
ID Diencephalic-mesencephalic junction dysplasia syndrome 2.
AC DI-05683
AR DMJDS2.
DE An autosomal recessive neurodevelopmental disorder with onset at
DE birth, characterized by severe global developmental delay, hypotonia,
DE spastic tetraparesis, generalized dystonia and severe intellectual
DE impairment. Brain imaging shows a unique brain malformation
DE characterized by agenesis of putamina and globi pallidi, dysgenesis of
DE the caudate nuclei, olfactory bulbs hypoplasia, and anomaly of the
DE diencephalic-mesencephalic junction with abnormal corticospinal tract
DE course.
SY Spastic tetraparesis, dystonia, developmental delay, and structural abnormalities of the basal ganglia.
DR MIM; 618646; phenotype.
DR MedGen; CN262579.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
KW KW-1023:Dystonia.
//
ID Diets-Jongmans syndrome.
AC DI-05814
AR DIJOS.
DE An autosomal dominant disorder characterized by varying degrees of
DE intellectual disability, developmental delay, short stature, and
DE characteristic facial features such as a wide mouth, a pointed chin,
DE long ears and a low columella.
SY IDDFD.
SY Intellectual developmental disorder with distinctive facial dysmorphism.
DR MIM; 618846; phenotype.
DR MedGen; CN272931.
DR MeSH; D065886.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
//
ID DiGeorge syndrome.
AC DI-01487
AR DGS.
DE A congenital syndrome characterized by a wide spectrum of
DE characteristics including parathyroid hypoplasia resulting in
DE hypocalcemia, thymic hypoplasia resulting in T-cell immunodeficiency,
DE defects in the outflow tract of the heart, and craniofacial anomalies.
DE Disturbance of cervical neural crest migration into the derivatives of
DE the pharyngeal arches and pouches can account for the phenotype.
SY Chromosome 22q11.2 deletion syndrome.
SY Hypoplasia of thymus and parathyroids.
SY Third and fourth pharyngeal pouch syndrome.
DR MIM; 188400; phenotype.
DR MedGen; C0012236.
DR MedGen; C1861129.
DR MeSH; D004062.
//
ID Digital arthropathy-brachydactyly, familial.
AC DI-03486
AR FDAB.
DE A disorder characterized by irregularities in the proximal articular
DE surfaces of the distal interphalangeal joints of the hand. Individuals
DE appear normal at birth, with no clinical or radiographic evidence of a
DE developmental skeletal dysplasia. The earliest changes appear during
DE the first decade of life. By adulthood, all interphalangeal,
DE metacarpophalangeal, and metatarsophalangeal joints are affected by a
DE deforming, painful osteoarthritis. The remainder of the skeleton is
DE clinically and radiographically unaffected.
DR MIM; 606835; phenotype.
DR MedGen; C1847406.
DR MeSH; D006226.
DR MeSH; D059327.
//
ID Digital clubbing, isolated congenital.
AC DI-02474
AR DIGC.
DE A rare genodermatosis characterized by enlargement of the nail plate
DE and terminal segments of the fingers and toes, resulting from
DE proliferation of the connective tissues between the nail matrix and
DE the distal phalanx. It is usually symmetrical and bilateral (in some
DE cases unilateral). In nail clubbing usually the distal end of the nail
DE matrix is relatively high compared to the proximal end, while the nail
DE plate is complete but its dimensions and diameter more or less vary in
DE comparison to normal. There may be different fingers and toes involved
DE to varying degrees. Some fingers or toes are spared, but the thumbs
DE are almost always involved.
SY Clubbing of digits.
SY Hereditary acropachy.
DR MIM; 119900; phenotype.
DR MedGen; C1861514.
DR MeSH; D009260.
//
ID Dihydrolipoamide dehydrogenase deficiency.
AC DI-03698
AR DLDD.
DE An autosomal recessive metabolic disorder characterized biochemically
DE by a combined deficiency of the branched-chain alpha-keto acid
DE dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC),
DE and alpha-ketoglutarate dehydrogenase complex (KGDC). Clinically,
DE affected individuals have lactic acidosis and neurologic deterioration
DE due to sensitivity of the central nervous system to defects in
DE oxidative metabolism.
SY DLD deficiency.
SY E3 deficiency.
SY Lactic acidosis due to lipoamide dehydrogenase deficiency.
SY Maple syrup urine disease type III.
SY MSUD type III.
DR MIM; 246900; phenotype.
DR MedGen; C3492932.
DR MedGen; C3495355.
DR MedGen; CN043137.
DR MeSH; D000140.
DR MeSH; D008375.
//
ID Dihydropyrimidinase deficiency.
AC DI-01483
AR DPYSD.
DE An autosomal recessive disorder of pyrimidine metabolism characterized
DE by dihydropyrimidinuria. It is associated with a variable clinical
DE phenotype characterized by epileptic or convulsive attacks, dysmorphic
DE features and severe developmental delay, and congenital microvillous
DE atrophy. Most patients are, however, asymptomatic.
SY Dihydropyrimidinuria due to DPYS deficiency.
SY DPH deficiency.
SY DPYS deficiency.
DR MIM; 222748; phenotype.
DR MedGen; C0342803.
DR MedGen; C3495551.
DR MeSH; D011686.
//
ID Dihydropyrimidine dehydrogenase deficiency.
AC DI-01488
AR DPYDD.
DE A metabolic disorder with large phenotypic variability, ranging from
DE no symptoms to a convulsive disorder with motor and intellectual
DE disability. It is characterized by persistent urinary excretion of
DE excessive amounts of uracil, thymine and 5-hydroxymethyluracil.
DE Patients suffering from this disease show a severe reaction to the
DE anticancer drug 5-fluorouracil.
SY Dihydropyrimidinuria.
SY DPD deficiency.
SY DPYD deficiency.
SY Familial pyrimidinemia.
SY Hereditary thymine-uraciluria.
DR MIM; 274270; phenotype.
DR MedGen; C1959620.
DR MedGen; C2720286.
DR MeSH; D054067.
//
ID Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency.
AC DI-00601
AR DISPORD.
DE A disorder resulting in a rare variant of congenital adrenal
DE hyperplasia, with apparent combined P450C17 and P450C21 deficiency and
DE accumulation of steroid metabolites. Affected girls are born with
DE ambiguous genitalia, but their circulating androgens are low and
DE virilization does not progress. Conversely, affected boys are
DE sometimes born undermasculinized. Boys and girls can present with bone
DE malformations, in some cases resembling the pattern seen in patients
DE with Antley-Bixler syndrome.
SY Adrenal hyperplasia congenital due to cytochrome P450 oxidoreductase deficiency.
SY Congenital adrenal hyperplasia due to apparent combined P450C17 and P450C21 deficiency.
SY Cytochrome P450 oxidoreductase deficiency.
SY Disordered steroidogenesis due to POR deficiency.
SY POR deficiency.
DR MIM; 613571; phenotype.
DR MedGen; C2673964.
DR MeSH; D000312.
KW KW-0954:Congenital adrenal hyperplasia.
//
ID Distal myopathy with anterior tibial onset.
AC DI-01494
AR DMAT.
DE Onset of the disorder is between 14 and 28 years of age and the
DE anterior tibial muscles are the first muscle group to be involved.
DE Inheritance is autosomal recessive.
DR MIM; 606768; phenotype.
DR MedGen; C1847532.
//
ID Distal spinal muscular atrophy, autosomal recessive, 2.
AC DI-04545
AR DSMA2.
DE An autosomal recessive neuromuscular disorder characterized by onset
DE of distal muscle weakness and wasting affecting the lower and upper
DE limbs in the first decade. There is no sensory involvement.
SY Hereditary motor neuropathy, Jerash type.
SY HMNJ.
SY Motor neuropathy, distal, Jerash type.
SY Neuronopathy, distal hereditary motor, Jerash type.
SY Neuropathy, distal hereditary motor, Jerash type.
SY Spinal muscular atrophy, Jerash type.
DR MIM; 605726; phenotype.
DR MedGen; C1854023.
DR MeSH; D009134.
KW KW-0523:Neurodegeneration.
//
ID Distal spinal muscular atrophy, autosomal recessive, 4.
AC DI-00405
AR DSMA4.
DE A neuromuscular disorder. Distal spinal muscular atrophy, also known
DE as distal hereditary motor neuronopathy, represents a heterogeneous
DE group of neuromuscular disorders caused by selective degeneration of
DE motor neurons in the anterior horn of the spinal cord, without sensory
DE deficit in the posterior horn. The overall clinical picture consists
DE of a classical distal muscular atrophy syndrome in the legs without
DE clinical sensory loss. The disease starts with weakness and wasting of
DE distal muscles of the anterior tibial and peroneal compartments of the
DE legs. Later on, weakness and atrophy may expand to the proximal
DE muscles of the lower limbs and/or to the distal upper limbs. DSMA4 is
DE characterized by childhood onset, generalized muscle weakness and
DE atrophy with denervation and normal sensation. Bulbar symptoms and
DE pyramidal signs are absent.
DR MIM; 611067; phenotype.
DR MedGen; C1970211.
DR MeSH; D009134.
KW KW-0523:Neurodegeneration.
//
ID Distal spinal muscular atrophy, autosomal recessive, 5.
AC DI-03602
AR DSMA5.
DE An autosomal recessive neurologic disorder characterized by young
DE adult onset of slowly progressive distal muscle weakness and atrophy
DE resulting in gait impairment and loss of reflexes due to impaired
DE function of motor nerves. Sensation and cognition are not impaired.
DR MIM; 614881; phenotype.
DR MedGen; C3553989.
DR MeSH; D009134.
KW KW-0523:Neurodegeneration.
//
ID Distal spinal muscular atrophy, X-linked, 3.
AC DI-02799
AR DSMAX3.
DE A neuromuscular disorder. Distal spinal muscular atrophy, also known
DE as distal hereditary motor neuronopathy, represents a heterogeneous
DE group of neuromuscular disorders caused by selective degeneration of
DE motor neurons in the anterior horn of the spinal cord, without sensory
DE deficit in the posterior horn. The overall clinical picture consists
DE of a classical distal muscular atrophy syndrome in the legs without
DE clinical sensory loss. The disease starts with weakness and wasting of
DE distal muscles of the anterior tibial and peroneal compartments of the
DE legs. Later on, weakness and atrophy may expand to the proximal
DE muscles of the lower limbs and/or to the distal upper limbs.
SY DSMAX.
SY SMAX3.
SY Spinal muscular atrophy distal X-linked recessive.
DR MIM; 300489; phenotype.
DR MedGen; C1845359.
DR MeSH; D009134.
KW KW-0523:Neurodegeneration.
//
ID DMGDH deficiency.
AC DI-01497
AR DMGDHD.
DE Disorder characterized by fish odor, muscle fatigue with increased
DE serum creatine kinase. Biochemically it is characterized by an
DE increase of N,N-dimethylglycine (DMG) in serum and urine.
DR MIM; 605850; phenotype.
DR MedGen; C1853892.
//
ID Dominant nonimmune chronic idiopathic neutropenia of adults.
AC DI-01499
AR NI-CINA.
DE Relatively mild form of neutropenia diagnosed in adults, but
DE predisposing to leukemia in a subset of patients.
DR MIM; 607847; phenotype.
DR MedGen; C1842930.
//
ID Dominant optic atrophy plus syndrome.
AC DI-02096
AR DOA+.
DE A neurologic disorder characterized most commonly by an insidious
DE onset of visual loss and sensorineural hearing loss in childhood with
DE variable presentation of other clinical manifestations including
DE progressive external ophthalmoplegia, muscle cramps, hyperreflexia,
DE and ataxia. There appears to be a wide range of intermediate
DE phenotypes.
SY Optic atrophy with or without deafness ophthalmoplegia myopathy ataxia and neuropathy.
DR MIM; 125250; phenotype.
DR MedGen; C1852267.
DR MedGen; C3276549.
DR MeSH; D002493.
DR MeSH; D029241.
//
ID Dominantly inherited venous malformations.
AC DI-01500
AR VMCM.
DE An error of vascular morphogenesis characterized by dilated,
DE serpiginous channels.
DR MIM; 600195; phenotype.
DR MedGen; C1838437.
//
ID Donnai-Barrow syndrome.
AC DI-01501
AR DBS.
DE Rare autosomal recessive disorder characterized by major malformations
DE including agenesis of the corpus callosum, congenital diaphragmatic
DE hernia, facial dysmorphology, ocular anomalies, sensorineural hearing
DE loss and developmental delay. The FOAR syndrome was first described as
DE comprising facial anomalies, ocular anomalies, sensorineural hearing
DE loss, and proteinuria. DBS and FOAR were first described as distinct
DE disorders but the classic distinguishing features between the 2
DE disorders were presence of proteinuria and absence of diaphragmatic
DE hernia and corpus callosum anomalies in FOAR. Early reports noted that
DE the 2 disorders shared many phenotypic features and may be identical.
DE Although there is variability in the expression of some features
DE (e.g., agenesis of the corpus callosum and proteinuria), DBS and FOAR
DE are now considered to represent the same entity.
SY Faciooculoacousticorenal syndrome.
SY Facio-oculo-acoustico-renal syndrome.
SY FOAR syndrome.
DR MIM; 222448; phenotype.
DR MedGen; C1857277.
//
ID Dowling-Degos disease 1.
AC DI-01503
AR DDD1.
DE An autosomal dominant genodermatosis. Affected individuals develop a
DE postpubertal reticulate hyperpigmentation that is progressive and
DE disfiguring, and small hyperkeratotic dark brown papules that affect
DE mainly the flexures and great skin folds. Patients usually show no
DE abnormalities of the hair or nails.
SY DDD.
SY Reticular pigment anomaly of flexures.
DR MIM; 179850; phenotype.
DR MedGen; C0406811.
DR MeSH; D017444.
DR MeSH; D017495.
//
ID Dowling-Degos disease 2.
AC DI-03821
AR DDD2.
DE An autosomal dominant genodermatosis. Affected individuals develop a
DE postpubertal reticulate hyperpigmentation that is progressive and
DE disfiguring, and small hyperkeratotic dark brown papules that affect
DE mainly the flexures and great skin folds. Patients usually show no
DE abnormalities of the hair or nails.
DR MIM; 615327; phenotype.
DR MedGen; C3809147.
DR MedGen; CN178067.
DR MeSH; D017444.
DR MeSH; D017495.
//
ID Dowling-Degos disease 4.
AC DI-04044
AR DDD4.
DE A form of Dowling-Degos disease, a genodermatosis manifesting with
DE postpubertal reticulate hyperpigmentation that is progressive and
DE disfiguring, and small hyperkeratotic dark brown papules that affect
DE mainly the flexures and great skin folds. Patients usually show no
DE abnormalities of the hair or nails. DDD4 is characterized by prominent
DE involvement of non-flexural skin areas.
DR MIM; 615696; phenotype.
DR MedGen; C3810313.
DR MedGen; CN185282.
DR MeSH; D017444.
DR MeSH; D017495.
//
ID Doyne honeycomb retinal dystrophy.
AC DI-01504
AR DHRD.
DE Autosomal dominant disease characterized by yellow-white deposits
DE known as drusen that accumulate beneath the retinal pigment
DE epithelium.
SY Malattia leventinese.
SY ML.
SY MLVT.
DR MIM; 126600; phenotype.
DR MedGen; C1832174.
DR MedGen; C1852020.
DR MedGen; C1852021.
//
ID Dravet syndrome.
AC DI-01023
AR DRVT.
DE A severe form of epileptic encephalopathy characterized by generalized
DE tonic, clonic, and tonic-clonic seizures that are initially induced by
DE fever and begin during the first year of life. Later, patients also
DE manifest other seizure types, including absence, myoclonic, and simple
DE and complex partial seizures. Psychomotor development delay is
DE observed around the second year of life. Some patients manifest a
DE borderline disease phenotype and do not necessarily fulfill all
DE diagnostic criteria for core DRVT. DRVT is considered to be the most
DE severe phenotype within the spectrum of generalized epilepsies with
DE febrile seizures-plus.
SY Borderline SMEI.
SY DEE6A.
SY Developmental and epileptic encephalopathy 6A.
SY EIEE6.
SY Epileptic encephalopathy, early infantile, 6.
SY Severe myoclonic epilepsy in infancy.
SY SMEB.
SY SMEB-M.
SY SMEB-O.
SY SMEB-SW.
SY SMEI.
SY SMEI-borderland.
SY SMEI-borderland more than one feature.
SY SMEI-borderland-myoclonic seizures.
SY SMEI-borderland-spike wave.
DR MIM; 607208; phenotype.
DR MedGen; C0751122.
DR MeSH; D004831.
KW KW-0887:Epilepsy.
//
ID Duane retraction syndrome 2.
AC DI-01506
AR DURS2.
DE A form of Duane retraction syndrome, a congenital eye movement
DE disorder characterized by a failure of cranial nerve VI (the abducens
DE nerve) to develop normally, resulting in restriction or absence of
DE abduction, adduction or both, narrowing of the palpebral fissure, and
DE retraction of the globe on attempted adduction. Undiagnosed in
DE children, it can lead to amblyopia, a permanent uncorrectable loss of
DE vision.
DR MIM; 604356; phenotype.
DR MedGen; C0751083.
DR MeSH; D004370.
//
ID Duane retraction syndrome 3 with or without deafness.
AC DI-04764
AR DURS3.
DE A form of Duane retraction syndrome, a congenital eye movement
DE disorder characterized by a failure of cranial nerve VI (the abducens
DE nerve) to develop normally, resulting in restriction or absence of
DE abduction, adduction or both, narrowing of the palpebral fissure, and
DE retraction of the globe on attempted adduction. Undiagnosed in
DE children, it can lead to amblyopia, a permanent uncorrectable loss of
DE vision. Some DURS3 patients manifest sensorineural hearing loss.
DR MIM; 617041; phenotype.
DR MedGen; CN237403.
DR MeSH; D004370.
//
ID Duane-radial ray syndrome.
AC DI-01507
AR DRRS.
DE Disorder characterized by the association of forearm malformations
DE with Duane retraction syndrome.
SY Okihiro syndrome.
DR MIM; 607323; phenotype.
DR MedGen; C1623209.
//
ID Dubin-Johnson syndrome.
AC DI-01508
AR DJS.
DE Autosomal recessive disorder characterized by conjugated
DE hyperbilirubinemia, an increase in the urinary excretion of
DE coproporphyrin isomer I, deposition of melanin-like pigment in
DE hepatocytes, and prolonged retention of sulfobromophthalein, but
DE otherwise normal liver function.
DR MIM; 237500; phenotype.
DR MedGen; C0022350.
//
ID Duchenne muscular dystrophy.
AC DI-01509
AR DMD.
DE Most common form of muscular dystrophy; a sex-linked recessive
DE disorder. It typically presents in boys aged 3 to 7 year as proximal
DE muscle weakness causing waddling gait, toe-walking, lordosis, frequent
DE falls, and difficulty in standing up and climbing up stairs. The
DE pelvic girdle is affected first, then the shoulder girdle. Progression
DE is steady and most patients are confined to a wheelchair by age of 10
DE or 12. Flexion contractures and scoliosis ultimately occur. About 50%
DE of patients have a lower IQ than their genetic expectations would
DE suggest. There is no treatment.
DR MIM; 310200; phenotype.
DR MedGen; C0013264.
//
ID Dursun syndrome.
AC DI-02930
AR DURSS.
DE A disease characterized by pulmonary arterial hypertension, cardiac
DE abnormalities including secundum-type atrial septal defect,
DE intermittent neutropenia, lymphopenia, monocytosis and anemia.
SY Pulmonary arterial hypertension leukopenia and atrial septal defect.
DR MIM; 612541; phenotype.
DR MedGen; C2751630.
DR MeSH; D009503.
//
ID Dyggve-Melchior-Clausen syndrome.
AC DI-00406
AR DMC.
DE A rare autosomal recessive disorder belonging to the group of
DE spondyloepimetaphyseal dysplasias. DMC is characterized by progressive
DE short stature with short trunk dwarfism, microcephaly, protruding
DE sternum, and psychomotor retardation. Radiological features include a
DE platyspondyly with double vertebral humps, an epiphyso-metaphyseal
DE dysplasia and lacy pelvis iliac crests.
DR MIM; 223800; phenotype.
DR MedGen; C0265286.
DR MeSH; D001848.
KW KW-0242:Dwarfism.
//
ID Dyschromatosis symmetrica hereditaria.
AC DI-01510
AR DSH.
DE An autosomal dominant pigmentary genodermatosis characterized by a
DE mixture of hyperpigmented and hypopigmented macules distributed on the
DE face and the dorsal parts of the hands and feet, that appear in
DE infancy or early childhood.
SY DSH1.
SY Dyschromatosis symmetrica hereditaria 1.
SY Reticulate acropigmentation of Dohi.
SY Symmetric dyschromatosis of the extremities.
DR MIM; 127400; phenotype.
DR MedGen; C0406775.
DR MeSH; D010859.
//
ID Dyschromatosis universalis hereditaria 1.
AC DI-05519
AR DUH1.
DE A form of dyschromatosis universalis, an autosomal dominant pigmentary
DE genodermatosis characterized by a mixture of hyperpigmented and
DE hypopigmented macules distributed randomly over the body, that appear
DE in infancy or early childhood. The trunk and extremities are the
DE dominant sites of abnormal pigmentation. Facial lesions can be seen in
DE 50% of affected individuals, but involvement of palms and soles is
DE unusual. Abnormalities of hair and nails have also been reported.
DE Dyschromatosis universalis hereditaria may be associated with
DE abnormalities of dermal connective tissue, nerve tissue, or other
DE systemic complications.
DR MIM; 127500; phenotype.
DR MedGen; C2675711.
DR MeSH; D010859.
//
ID Dyschromatosis universalis hereditaria 3.
AC DI-03880
AR DUH3.
DE An autosomal dominant pigmentary genodermatosis characterized by a
DE mixture of hyperpigmented and hypopigmented macules distributed
DE randomly over the body, that appear in infancy or early childhood. The
DE trunk and extremities are the dominant sites of abnormal pigmentation.
DE Facial lesions can be seen in 50% of affected individuals, but
DE involvement of palms and soles is unusual. Abnormalities of hair and
DE nails have also been reported. Dyschromatosis universalis hereditaria
DE may be associated with abnormalities of dermal connective tissue,
DE nerve tissue, or other systemic complications.
SY DSH.
SY Dyschromatosis symmetrica hereditaria.
SY Reticulate acropigmentation of Dohi.
SY Symmetric dyschromatosis of the extremities.
DR MIM; 615402; phenotype.
DR MedGen; C3809394.
DR MedGen; CN179951.
DR MeSH; D010859.
//
ID Dysfibrinogenemia, congenital.
AC DI-04218
AR DYSFIBRIN.
DE A disorder characterized by qualitative abnormalities
DE (dysfibrinogenemia) of the circulating fibrinogen. Affected
DE individuals are frequently asymptomatic, but some patients have
DE bleeding diathesis, thromboembolic complications, or both. In some
DE cases, dysfibrinogenemia is associated with low circulating fibrinogen
DE levels (hypodysfibrinogenemia).
SY Hypodysfibrinogenemia, congenital.
DR MIM; 616004; phenotype.
DR MedGen; C0272350.
DR MeSH; D025861.
//
ID Dyskeratosis congenita, autosomal dominant, 2.
AC DI-00407
AR DKCA2.
DE A rare multisystem disorder caused by defective telomere maintenance.
DE It is characterized by progressive bone marrow failure, and the
DE clinical triad of reticulated skin hyperpigmentation, nail dystrophy,
DE and mucosal leukoplakia. Common but variable features include
DE premature graying, aplastic anemia, low platelets, osteoporosis,
DE pulmonary fibrosis, and liver fibrosis among others. Early mortality
DE is often associated with bone marrow failure, infections, fatal
DE pulmonary complications, or malignancy.
SY Dyskeratosis congenita Scoggins type.
DR MIM; 613989; phenotype.
DR MedGen; C3151443.
DR MeSH; D019871.
KW KW-1011:Dyskeratosis congenita.
//
ID Dyskeratosis congenita, autosomal dominant, 3.
AC DI-03165
AR DKCA3.
DE A rare multisystem disorder caused by defective telomere maintenance.
DE It is characterized by progressive bone marrow failure, and the
DE clinical triad of reticulated skin hyperpigmentation, nail dystrophy,
DE and mucosal leukoplakia. Common but variable features include
DE premature graying, aplastic anemia, low platelets, osteoporosis,
DE pulmonary fibrosis, and liver fibrosis among others. Early mortality
DE is often associated with bone marrow failure, infections, fatal
DE pulmonary complications, or malignancy.
DR MIM; 613990; phenotype.
DR MedGen; C3151445.
DR MeSH; D019871.
KW KW-1011:Dyskeratosis congenita.
//
ID Dyskeratosis congenita, autosomal dominant, 4.
AC DI-03889
AR DKCA4.
DE A rare multisystem disorder caused by defective telomere maintenance.
DE It is characterized by progressive bone marrow failure, and the
DE clinical triad of reticulated skin hyperpigmentation, nail dystrophy,
DE and mucosal leukoplakia. Common but variable features include
DE premature graying, aplastic anemia, low platelets, osteoporosis,
DE pulmonary fibrosis, and liver fibrosis among others. Early mortality
DE is often associated with bone marrow failure, infections, fatal
DE pulmonary complications, or malignancy.
DR MIM; 615190; phenotype.
DR MedGen; C3808802.
DR MeSH; D019871.
KW KW-1011:Dyskeratosis congenita.
//
ID Dyskeratosis congenita, autosomal dominant, 5.
AC DI-00998
AR DKCA5.
DE A disease characterized by bone marrow hypoplasia, nail dystrophy,
DE fine sparse hair, fine reticulate skin pigmentation, oral leukoplakia,
DE bilateral exudative retinopathy, cerebellar hypoplasia, and growth
DE retardation.
SY Exudative retinopathy with bone marrow failure.
SY Revesz Debuse syndrome.
SY Revesz syndrome.
DR MIM; 268130; phenotype.
DR MedGen; C1327916.
DR MeSH; D012164.
DR MeSH; D019871.
KW KW-1011:Dyskeratosis congenita.
//
ID Dyskeratosis congenita, autosomal dominant, 6.
AC DI-04521
AR DKCA6.
DE A form of dyskeratosis congenita, a rare multisystem disorder caused
DE by defective telomere maintenance. It is characterized by progressive
DE bone marrow failure, and the clinical triad of reticulated skin
DE hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but
DE variable features include premature graying, aplastic anemia, low
DE platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among
DE others. Early mortality is often associated with bone marrow failure,
DE infections, fatal pulmonary complications, or malignancy.
DR MIM; 616553; phenotype.
DR MedGen; CN232698.
DR MeSH; D019871.
KW KW-1011:Dyskeratosis congenita.
//
ID Dyskeratosis congenita, autosomal recessive, 1.
AC DI-00408
AR DKCB1.
DE A rare multisystem disorder caused by defective telomere maintenance.
DE It is characterized by progressive bone marrow failure, and the
DE clinical triad of reticulated skin hyperpigmentation, nail dystrophy,
DE and mucosal leukoplakia. Common but variable features include
DE premature graying, aplastic anemia, low platelets, osteoporosis,
DE pulmonary fibrosis, and liver fibrosis among others. Early mortality
DE is often associated with bone marrow failure, infections, fatal
DE pulmonary complications, or malignancy.
DR MIM; 224230; phenotype.
DR MedGen; C1857144.
DR MeSH; D019871.
KW KW-1011:Dyskeratosis congenita.
//
ID Dyskeratosis congenita, autosomal recessive, 2.
AC DI-03167
AR DKCB2.
DE A rare multisystem disorder caused by defective telomere maintenance.
DE It is characterized by progressive bone marrow failure, and the
DE clinical triad of reticulated skin hyperpigmentation, nail dystrophy,
DE and mucosal leukoplakia. Common but variable features include
DE premature graying, aplastic anemia, low platelets, osteoporosis,
DE pulmonary fibrosis, and liver fibrosis among others. Early mortality
DE is often associated with bone marrow failure, infections, fatal
DE pulmonary complications, or malignancy.
DR MIM; 613987; phenotype.
DR MedGen; C3151441.
DR MeSH; D019871.
KW KW-1011:Dyskeratosis congenita.
//
ID Dyskeratosis congenita, autosomal recessive, 3.
AC DI-03168
AR DKCB3.
DE A rare multisystem disorder caused by defective telomere maintenance.
DE It is characterized by progressive bone marrow failure, and the
DE clinical triad of reticulated skin hyperpigmentation, nail dystrophy,
DE and mucosal leukoplakia. Common but variable features include
DE premature graying, aplastic anemia, low platelets, osteoporosis,
DE pulmonary fibrosis, and liver fibrosis among others. Early mortality
DE is often associated with bone marrow failure, infections, fatal
DE pulmonary complications, or malignancy.
DR MIM; 613988; phenotype.
DR MedGen; C3151442.
DR MeSH; D019871.
KW KW-1011:Dyskeratosis congenita.
//
ID Dyskeratosis congenita, autosomal recessive, 4.
AC DI-03166
AR DKCB4.
DE A severe form of dyskeratosis congenita, a rare multisystem disorder
DE caused by defective telomere maintenance. It is characterized by
DE progressive bone marrow failure, and the clinical triad of reticulated
DE skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia.
DE Common but variable features include premature graying, aplastic
DE anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver
DE fibrosis among others. Early mortality is often associated with bone
DE marrow failure, infections, fatal pulmonary complications, or
DE malignancy.
SY Dyskeratosis congenita Scoggins type.
DR MIM; 613989; phenotype.
DR MedGen; C3151444.
DR MeSH; D019871.
KW KW-1011:Dyskeratosis congenita.
//
ID Dyskeratosis congenita, autosomal recessive, 5.
AC DI-03755
AR DKCB5.
DE A form of dyskeratosis congenita, a rare multisystem disorder caused
DE by defective telomere maintenance. It is characterized by progressive
DE bone marrow failure, and the clinical triad of reticulated skin
DE hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but
DE variable features include premature graying, aplastic anemia, low
DE platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among
DE others. Early mortality is often associated with bone marrow failure,
DE infections, fatal pulmonary complications, or malignancy. DKCB5 is
DE characterized by onset of bone marrow failure and immunodeficiency in
DE early childhood. Most patients also have growth and developmental
DE delay and cerebellar hypoplasia, consistent with a clinical diagnosis
DE of Hoyeraal-Hreidarsson syndrome.
DR MIM; 615190; phenotype.
DR MedGen; C3554656.
DR MedGen; CN169266.
DR MeSH; D019871.
KW KW-1011:Dyskeratosis congenita.
//
ID Dyskeratosis congenita, autosomal recessive, 6.
AC DI-04424
AR DKCB6.
DE A form of dyskeratosis congenita, a rare multisystem disorder caused
DE by defective telomere maintenance. It is characterized by progressive
DE bone marrow failure, and the clinical triad of reticulated skin
DE hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but
DE variable features include premature graying, aplastic anemia, low
DE platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among
DE others. Early mortality is often associated with bone marrow failure,
DE infections, fatal pulmonary complications, or malignancy.
DR MIM; 616353; phenotype.
DR MedGen; CN230311.
DR MeSH; D019871.
KW KW-1011:Dyskeratosis congenita.
//
ID Dyskeratosis congenita, autosomal recessive, 7.
AC DI-04522
AR DKCB7.
DE A form of dyskeratosis congenita, a rare multisystem disorder caused
DE by defective telomere maintenance. It is characterized by progressive
DE bone marrow failure, and the clinical triad of reticulated skin
DE hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but
DE variable features include premature graying, aplastic anemia, low
DE platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among
DE others. Early mortality is often associated with bone marrow failure,
DE infections, fatal pulmonary complications, or malignancy.
DR MIM; 616553; phenotype.
DR MedGen; CN232699.
DR MeSH; D019871.
KW KW-1011:Dyskeratosis congenita.
//
ID Dyskeratosis congenita, X-linked.
AC DI-00409
AR DKCX.
DE A rare, progressive bone marrow failure syndrome characterized by the
DE triad of reticulated skin hyperpigmentation, nail dystrophy, and
DE mucosal leukoplakia. Early mortality is often associated with bone
DE marrow failure, infections, fatal pulmonary complications, or
DE malignancy.
SY Zinsser-Cole-Engman syndrome.
DR MIM; 305000; phenotype.
DR MedGen; C1148551.
DR MeSH; D019871.
KW KW-1011:Dyskeratosis congenita.
//
ID Dyskinesia with orofacial involvement, autosomal recessive.
AC DI-06289
AR DSKOR.
DE An autosomal recessive disorder characterized by abnormal involuntary
DE movements mainly affecting the limbs and causing walking difficulties,
DE oro-facial dyskinesia, and speech delay. Some patients develop
DE neuropsychiatric features. Cardiomyopathy has rarely been described
DE and may be a manifestation of the disorder.
DR MIM; 619647; phenotype.
DR MedGen; CN305151.
DR MeSH; D020820.
//
ID Dyskinesia, familial, with facial myokymia.
AC DI-03514
AR FDFM.
DE A disorder characterized by predominantly perioral and periorbital
DE myokymia, and face, neck and upper limb dystonic/choreic movements.
DE Initially paroxysmal and worsened by stress, the dyskinetic episodes
DE become nearly constant by the end of the third decade of life, but in
DE some individuals, they may diminish in frequency and severity at older
DE ages.
DR MIM; 606703; phenotype.
DR MedGen; C1847627.
DR MeSH; D020385.
DR MeSH; D020820.
//
ID Dyskinesia, limb and orofacial, infantile-onset.
AC DI-04707
AR IOLOD.
DE An autosomal recessive, early-onset hyperkinetic movement disorder
DE characterized by axial hypotonia, dyskinesia of the limbs and trunk,
DE orofacial dyskinesia, drooling, and dysarthria. The severity of the
DE hyperkinesis is variable.
DR MIM; 616921; phenotype.
DR MedGen; CN236398.
DR MeSH; D020820.
//
ID Dyslexia 1.
AC DI-02608
AR DYX1.
DE A relatively common, complex cognitive disorder characterized by an
DE impairment of reading performance despite adequate motivational,
DE educational and intellectual opportunities. It is a multifactorial
DE trait, with evidence for familial clustering and heritability.
SY Congenital word-blindness.
SY Dyslexia 4.
SY Dyslexia 7.
SY DYX4.
SY DYX7.
SY Specific reading disability type 1.
DR MIM; 127700; phenotype.
DR MedGen; C1851967.
DR MedGen; C1851968.
DR MedGen; C1851969.
//
ID Dyslexia 2.
AC DI-01511
AR DYX2.
DE A relatively common, complex cognitive disorder characterized by an
DE impairment of reading performance despite adequate motivational,
DE educational and intellectual opportunities. It is a multifactorial
DE trait, with evidence for familial clustering and heritability.
SY Specific reading disability type 2.
DR MIM; 600202; phenotype.
DR MedGen; C1838436.
//
ID Dysostosis multiplex, Ain-Naz type.
AC DI-06118
AR DMAN.
DE An autosomal recessive, severe skeletal disease characterized by
DE features of dysostosis multiplex, severe short stature, coarse facies
DE with broad nose and prominent lips, protruding abdomens, and
DE progressive skeletal changes causing gradual mobility loss. Death in
DE childhood or early adulthood may occur.
DR MIM; 619345; phenotype.
DR MedGen; CN296810.
DR MeSH; D004413.
KW KW-0242:Dwarfism.
//
ID Dyssegmental dysplasia Silverman-Handmaker type.
AC DI-01512
AR DDSH.
DE The dyssegmental dysplasias are rare, autosomal recessive skeletal
DE dysplasias with anisospondyly and micromelia. There are two recognized
DE types: the severe, lethal DDSH and the milder Rolland-Desbuquois form.
DE Individuals with DDSH also have a flat face, micrognathia, cleft
DE palate and reduced joint mobility, and frequently have an
DE encephalocoele. The endochondral growth plate is short, the
DE calcospherites (which are spherical calcium-phosphorus crystals
DE produced by hypertrophic chondrocytes) are unfused, and there is
DE mucoid degeneration of the resting cartilage.
DR MIM; 224410; phenotype.
DR MedGen; C0432208.
DR MedGen; C1857100.
//
ID Dystonia 1, torsion, autosomal dominant.
AC DI-00413
AR DYT1.
DE A primary torsion dystonia, and the most common and severe form.
DE Dystonia is defined by the presence of sustained involuntary muscle
DE contractions, often leading to abnormal postures. Dystonia type 1 is
DE characterized by involuntary, repetitive, sustained muscle
DE contractions or postures involving one or more sites of the body, in
DE the absence of other neurological symptoms. Typically, symptoms
DE develop first in an arm or leg in middle to late childhood and
DE progress in approximately 30% of patients to other body regions
DE (generalized dystonia) within about five years. 'Torsion' refers to
DE the twisting nature of body movements observed in DYT1, often
DE affecting the trunk. Distribution and severity of symptoms vary widely
DE between affected individuals, ranging from mild focal dystonia to
DE severe generalized dystonia, even within families.
SY Autosomal dominant torsion dystonia 1.
SY Dystonia-1.
SY Dystonia musculorum deformans 1.
SY Early-onset torsion dystonia.
SY EOTD.
SY Oppenheim's dystonia.
SY Oppenheim-Ziehen disease.
DR MIM; 128100; phenotype.
DR MedGen; C1851945.
DR MeSH; D004422.
KW KW-1023:Dystonia.
//
ID Dystonia 11, myoclonic.
AC DI-00418
AR DYT11.
DE A myoclonic dystonia. Dystonia is defined by the presence of sustained
DE involuntary muscle contractions, often leading to abnormal postures.
DE DYT11 is characterized by involuntary lightning jerks and dystonic
DE movements and postures alleviated by alcohol. Inheritance is autosomal
DE dominant. The age of onset, pattern of body involvement, presence of
DE myoclonus and response to alcohol are all variable.
SY Alcohol-responsive dystonia.
SY Dystonia-11.
SY Myoclonic dystonia.
SY Myoclonus-dystonia syndrome.
DR MIM; 159900; phenotype.
DR MedGen; C1834570.
DR MeSH; D004421.
DR MeSH; D009207.
KW KW-1023:Dystonia.
//
ID Dystonia 12.
AC DI-00419
AR DYT12.
DE An autosomal dominant dystonia-parkinsonism disorder. Dystonia is
DE defined by the presence of sustained involuntary muscle contractions,
DE often leading to abnormal postures. DYT12 patients develop dystonia
DE and parkinsonism between 15 and 45 years of age. The disease is
DE characterized by an unusually rapid evolution of signs and symptoms.
DE The sudden onset of symptoms over hours to a few weeks, often
DE associated with physical or emotional stress, suggests a trigger
DE initiating a nervous system insult resulting in permanent neurologic
DE disability.
SY Dystonia-12.
SY Rapid-onset dystonia-parkinsonism.
SY RDP.
DR MIM; 128235; phenotype.
DR MedGen; C1868681.
DR MeSH; D004421.
KW KW-0908:Parkinsonism.
KW KW-1023:Dystonia.
//
ID Dystonia 16.
AC DI-00420
AR DYT16.
DE An early-onset dystonia-parkinsonism disorder. Dystonia is defined by
DE the presence of sustained involuntary muscle contraction, often
DE leading to abnormal postures. DYT16 patients have progressive,
DE generalized dystonia with axial muscle involvement, oro-mandibular
DE (sardonic smile) and laryngeal dystonia and, in some cases,
DE parkinsonian features.
SY Dystonia-16.
DR MIM; 612067; phenotype.
DR MedGen; C2677567.
DR MeSH; D004421.
KW KW-0908:Parkinsonism.
KW KW-1023:Dystonia.
//
ID Dystonia 2, torsion, autosomal recessive.
AC DI-04436
AR DYT2.
DE A form of torsion dystonia, a disease defined by the presence of
DE sustained involuntary muscle contractions, often leading to abnormal
DE postures. 'Torsion' refers to the twisting nature of body movements,
DE often affecting the trunk. DYT2 is a slowly progressive form that
DE first affects distal limbs and later involves the neck, orofacial, and
DE craniocervical regions.
SY Dystonia musculorum deformans 2.
SY Torsion dystonia 2.
DR MIM; 224500; phenotype.
DR MedGen; C1857093.
DR MeSH; D004422.
KW KW-1023:Dystonia.
//
ID Dystonia 23.
AC DI-04376
AR DYT23.
DE A form of dystonia, a disorder defined by the presence of sustained
DE involuntary muscle contraction, often leading to abnormal postures.
DE DYT23 is an autosomal dominant dystonia affecting the face, neck,
DE limbs. Some DYT23 patients manifest generalized myoclonus in addition
DE to progressive action-induced multifocal dystonia.
DR MIM; 614860; phenotype.
DR MedGen; C3538999.
DR MedGen; CN159223.
DR MeSH; D004421.
KW KW-1023:Dystonia.
//
ID Dystonia 24.
AC DI-03682
AR DYT24.
DE A form of dystonia, a disorder defined by the presence of sustained
DE involuntary muscle contraction, often leading to abnormal postures.
DE DYT24 is an autosomal dominant focal dystonia affecting the neck,
DE laryngeal muscles, and muscles of the upper limbs.
SY Dystonia-24.
DR MIM; 615034; phenotype.
DR MedGen; C3554374.
DR MedGen; CN164729.
DR MeSH; D004421.
KW KW-1023:Dystonia.
//
ID Dystonia 25.
AC DI-03651
AR DYT25.
DE A form of dystonia, a disorder defined by the presence of sustained
DE involuntary muscle contraction, often leading to abnormal postures.
DE DYT25 is an autosomal dominant neurologic disorder characterized by
DE adult onset of focal dystonia, usually involving the neck. The
DE dystonia most often progresses to involve other regions, particularly
DE the face and laryngeal muscles, and less commonly the trunk and limbs.
SY Dystonia-25.
DR MIM; 615073; phenotype.
DR MedGen; C3554447.
DR MedGen; CN165617.
DR MeSH; D004421.
KW KW-1023:Dystonia.
//
ID Dystonia 26, myoclonic.
AC DI-04408
AR DYT26.
DE A form of dystonia, a disorder defined by the presence of sustained
DE involuntary muscle contraction, often leading to abnormal postures.
DE DYT26 is an autosomal dominant, progressive disorder characterized by
DE a combination of non-epileptic myoclonic jerks and dystonia. Affected
DE individuals manifest myoclonic jerks in the upper limbs during the
DE first or second decade of life, and later develop dystonia with
DE predominant involvement of the craniocervical regions and sometimes
DE the trunk and/or lower limbs.
DR MIM; 616398; phenotype.
DR MedGen; CN230764.
DR MeSH; D004421.
KW KW-1023:Dystonia.
//
ID Dystonia 27.
AC DI-04449
AR DYT27.
DE A form of dystonia, a disorder defined by the presence of sustained
DE involuntary muscle contraction, often leading to abnormal postures.
DE DYT27 is an autosomal recessive form characterized by segmental
DE isolated dystonia involving the face, neck, bulbar muscles, and upper
DE limbs.
DR MIM; 616411; phenotype.
DR MedGen; CN231151.
DR MeSH; D004421.
KW KW-1023:Dystonia.
//
ID Dystonia 28, childhood-onset.
AC DI-04935
AR DYT28.
DE A form of dystonia, a disorder defined by the presence of sustained
DE involuntary muscle contraction, often leading to abnormal postures.
DE DYT28 is an autosomal dominant, progressive form characterized by
DE onset in the first decade of life and variable severity. Dystonia
DE begins focally in the lower limbs, resulting in gait difficulties,
DE with later progression to other body regions, including the upper
DE limbs, neck, and orofacial region.
DR MIM; 617284; phenotype.
DR MedGen; CN239941.
DR MeSH; D004421.
KW KW-1023:Dystonia.
//
ID Dystonia 3, torsion, X-linked.
AC DI-00414
AR DYT3.
DE An X-linked dystonia-parkinsonism disorder. Dystonia is defined by the
DE presence of sustained involuntary muscle contractions, often leading
DE to abnormal postures. DYT3 is characterized by severe progressive
DE torsion dystonia followed by parkinsonism. It has a well-defined
DE pathology of extensive neuronal loss and mosaic gliosis in the
DE striatum (caudate nucleus and putamen) which appears to resemble that
DE in Huntington disease.
SY Dystonia-3.
SY Lubag.
SY Torsion dystonia-parkinsonism Filipino type.
SY XDP.
SY X-linked dystonia-parkinsonism.
SY X-linked torsion dystonia 3.
DR MIM; 314250; phenotype.
DR MedGen; C1839130.
DR MeSH; D004421.
KW KW-0908:Parkinsonism.
KW KW-1023:Dystonia.
//
ID Dystonia 30.
AC DI-06091
AR DYT30.
DE A form of dystonia, a disorder defined by the presence of sustained
DE involuntary muscle contraction, often leading to abnormal postures.
DE DYT30 is characterized by early onset and predominantly cervical,
DE bulbar, orofacial, and upper limb involvement. Some patients have a
DE more complex phenotype with neurocognitive impairment, including mild
DE intellectual disability or psychiatric manifestations. Loss of
DE ambulation is observed in some cases. DYT30 inheritance is autosomal
DE dominant with incomplete penetrance.
DR MIM; 619291; phenotype.
DR MedGen; CN296513.
DR MeSH; D004421.
KW KW-1023:Dystonia.
//
ID Dystonia 31.
AC DI-06261
AR DYT31.
DE A form of dystonia, a disorder defined by the presence of sustained
DE involuntary muscle contraction, often leading to abnormal postures.
DE DYT31 is an autosomal recessive, progressive form with onset from
DE childhood to young adulthood. Involuntary muscle twisting movements
DE and postural abnormalities affect the upper and lower limbs, neck,
DE face, and trunk. Some patients may have orofacial dyskinesia resulting
DE in articulation and swallowing difficulties.
SY Zech-Boesch syndrome.
DR MIM; 619565; phenotype.
DR MedGen; CN301208.
DR MeSH; D004421.
KW KW-1023:Dystonia.
//
ID Dystonia 32.
AC DI-06279
AR DYT32.
DE A form of dystonia, a disorder defined by the presence of sustained
DE involuntary muscle contraction, often leading to abnormal postures.
DE DYT32 is an autosomal recessive, slowly progressive form with onset in
DE adulthood and generalized involvement of the limbs, trunk, neck, and
DE larynx, resulting in dysarthria and dysphagia. Brain imaging may show
DE abnormalities in the basal ganglia.
DR MIM; 619637; phenotype.
DR MedGen; CN304979.
DR MeSH; D004421.
KW KW-1023:Dystonia.
//
ID Dystonia 33.
AC DI-06304
AR DYT33.
DE A form of dystonia, a disorder defined by the presence of sustained
DE involuntary muscle contraction, often leading to abnormal postures.
DE DYT33 is a slowly progressive form characterized by onset of focal or
DE generalized dystonia in the first decades of life. Disease
DE manifestations are variable. Some patients show ambulation
DE difficulties, dysarthria, or dysphagia. Some affected individuals may
DE manifest motor delay, lower limb spasticity, and mild developmental
DE delay with intellectual disability. DYT33 penetrance is incomplete.
DE Inheritance can be autosomal dominant or recessive.
DR MIM; 619687; phenotype.
DR MedGen; CN305744.
DR MeSH; D004421.
KW KW-1023:Dystonia.
//
ID Dystonia 34, myoclonic.
AC DI-06323
AR DYT34.
DE A form of dystonia, a disorder defined by the presence of sustained
DE involuntary muscle contraction, often leading to abnormal postures.
DE DYT34 is an autosomal dominant form characterized by childhood-onset
DE dystonia predominantly affecting hands and neck, with a fast tremor
DE with superimposed myoclonus and, in some individuals, subtle
DE cerebellar signs.
DR MIM; 619724; phenotype.
DR MedGen; CN306202.
DR MeSH; D004421.
KW KW-1023:Dystonia.
//
ID Dystonia 4, torsion, autosomal dominant.
AC DI-03777
AR DYT4.
DE A form of torsion dystonia, a disease defined by the presence of
DE sustained involuntary muscle contractions, often leading to abnormal
DE postures. 'Torsion' refers to the twisting nature of body movements,
DE often affecting the trunk. DYT4 is characterized by onset in the
DE second to third decade of progressive laryngeal dysphonia followed by
DE the involvement of other muscles, such as the neck or limbs. Some
DE patients develop an ataxic gait.
SY Dystonia-4.
SY Dystonia musculorum deformans 4.
SY Hereditary whispering dysphonia.
DR MIM; 128101; phenotype.
DR MedGen; C1851943.
DR MeSH; D004422.
KW KW-1023:Dystonia.
//
ID Dystonia 6, torsion.
AC DI-00416
AR DYT6.
DE A primary torsion dystonia. Dystonia is defined by the presence of
DE sustained involuntary muscle contractions, often leading to abnormal
DE postures. Dystonia type 6 is characterized by onset in early
DE adulthood, cranial or cervical involvement in about half of the cases,
DE and frequent progression to involve multiple body regions.
SY Adult-onset torsion dystonia mixed type.
SY Autosomal dominant torsion dystonia 6.
SY Dystonia-6.
SY Torsion dystonia type 6.
DR MIM; 602629; phenotype.
DR MedGen; C1414216.
DR MeSH; D004421.
KW KW-1023:Dystonia.
//
ID Dystonia 8.
AC DI-00417
AR DYT8.
DE A paroxysmal non-kinesigenic dystonia/dyskinesia. Dystonia is defined
DE by the presence of sustained involuntary muscle contractions, often
DE leading to abnormal postures. Dystonia type 8 is characterized by
DE attacks of involuntary movements brought on by stress, alcohol,
DE fatigue or caffeine. The attacks generally last between a few seconds
DE and four hours or longer. The attacks may begin in one limb and spread
DE throughout the body, including the face.
SY Choreoathetosis nonkinesigenic.
SY Dystonia-8.
SY Familial paroxysmal choreoathetosis.
SY FPD1.
SY Mount-Reback syndrome.
SY Paroxysmal dystonic choreoathetosis.
SY Paroxysmal nonkinesigenic dyskinesia 1.
SY PDC.
SY PNKD1.
DR MIM; 118800; phenotype.
DR MedGen; C1869117.
DR MeSH; D002819.
DR MeSH; D004421.
KW KW-1023:Dystonia.
//
ID Dystonia 9.
AC DI-03550
AR DYT9.
DE An autosomal dominant neurologic disorder characterized by childhood
DE onset of paroxysmal choreoathetosis and progressive spastic
DE paraplegia. Most patients show some degree of cognitive impairment.
DE Other variable features may include seizures, migraine headaches, and
DE ataxia.
SY CSE.
SY Dystonia-9.
SY Episodic choreoathetosis/spasticity.
SY Kinesigenic choreoathetosis with episodic ataxia and spasticity.
SY Paroxysmal choreoathetosis with episodic ataxia.
DR MIM; 601042; phenotype.
DR MedGen; C1832855.
DR MeSH; D002819.
DR MeSH; D009128.
KW KW-1023:Dystonia.
//
ID Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities.
AC DI-04936
AR DYTOABG.
DE An autosomal recessive neurologic disorder characterized by childhood-
DE onset dystonia, basal ganglia degeneration and optic atrophy with
DE decreased visual acuity. Dystonia is defined by the presence of
DE sustained involuntary muscle contraction, often leading to abnormal
DE postures. DYTOABG severity is variable, and some patients lose
DE independent ambulation.
SY Dystonia 29, childhood-onset.
SY DYT29.
SY MEPAN syndrome.
DR MIM; 617282; phenotype.
DR MedGen; CN239942.
DR MeSH; D001480.
DR MeSH; D009896.
DR MeSH; D020821.
KW KW-1023:Dystonia.
//
ID Dystonia, dopa-responsive.
AC DI-00415
AR DRD.
DE A form of dystonia that responds to L-DOPA treatment without side
DE effects. Dystonia is defined by the presence of sustained involuntary
DE muscle contractions, often leading to abnormal postures. DRD typically
DE presents in childhood with walking problems due to dystonia of the
DE lower limbs and worsening of the dystonia towards the evening. It is
DE characterized by postural and motor disturbances showing marked
DE diurnal fluctuation. Torsion of the trunk is unusual. Symptoms are
DE alleviated after sleep and aggravated by fatigue and exercise.
SY Autosomal dominant dopa-responsive dystonia.
SY Autosomal dominant Segawa syndrome.
SY DRD.
SY Dystonia 5.
SY Dystonia-5.
SY Dystonia-parkinsonism with diurnal fluctuation.
SY DYT5.
SY Progressive dystonia with diurnal fluctuation.
DR MIM; 128230; phenotype.
DR MedGen; C1851920.
DR MeSH; D004421.
DR MeSH; D020821.
KW KW-0908:Parkinsonism.
KW KW-1023:Dystonia.
//
ID Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency.
AC DI-00411
AR DRDSPRD.
DE A form of DOPA-responsive dystonia. In the majority of cases, patients
DE manifest progressive psychomotor retardation, dystonia and spasticity.
DE Cognitive anomalies are also often present. The disease is due to
DE severe dopamine and serotonin deficiencies in the central nervous
DE system caused by a defect in BH4 synthesis. Dystonia is defined by the
DE presence of sustained involuntary muscle contractions, often leading
DE to abnormal postures.
SY Motor and cognitive disorder due to sepiapterin reductase deficiency.
SY Sepiapterin reductase deficiency.
SY SPR deficiency.
DR MIM; 612716; phenotype.
DR MedGen; C0268468.
DR MeSH; D004421.
DR MeSH; D011596.
KW KW-1023:Dystonia.
//
ID Dystonia, early-onset, and/or spastic paraplegia.
AC DI-06301
AR DYTSPG.
DE An autosomal dominant, highly penetrant movement disorder
DE characterized by spastic paraplegia and/or dystonia to varying degrees
DE in affected individuals. Cognition is not affected. There is high
DE intra- and interfamilial variability in phenotype and age of onset.
DE Some patients have onset of progressive focal or generalized dystonia
DE in the first decade, whereas others develop progressive spastic
DE paraplegia as adults. Some affected individuals have manifestations of
DE both disorders.
DR MIM; 619681; phenotype.
DR MedGen; CN305735.
DR MeSH; D015419.
DR MeSH; D020821.
KW KW-0890:Hereditary spastic paraplegia.
KW KW-1023:Dystonia.
//
ID Dystonia, juvenile-onset.
AC DI-00412
AR DJO.
DE A form of dystonia with juvenile onset. Dystonia is defined by the
DE presence of sustained involuntary muscle contraction, often leading to
DE abnormal postures. Patients with juvenile-onset dystonia manifest
DE progressive, generalized, dopa-unresponsive dystonia, developmental
DE malformations and sensory hearing loss.
SY Developmental malformations-deafness-dystonia.
DR MIM; 607371; phenotype.
DR MedGen; C1846331.
DR MeSH; D004421.
KW KW-0209:Deafness.
KW KW-1023:Dystonia.
//
ID Dystrophia myotonica 1.
AC DI-02023
AR DM1.
DE A muscular disorder characterized by myotonia, muscle wasting in the
DE distal extremities, cataract, hypogonadism, defective endocrine
DE functions, male baldness and cardiac arrhythmias.
SY DM.
SY Dystrophia myotonica.
SY Myotonic dystrophy 1.
SY Steinert disease.
SY Steinert myotonic dystrophy.
DR MIM; 160900; phenotype.
DR MedGen; C0027126.
DR MedGen; C2931688.
DR MeSH; D009223.
//
ID Dystrophia myotonica 2.
AC DI-02024
AR DM2.
DE A multisystem disease characterized by the association of proximal
DE muscle weakness with myotonia, cardiac manifestations and cataract.
DE Additional features can include hyperhidrosis, testicular atrophy,
DE insulin resistance and diabetes and central nervous system anomalies
DE in rare cases.
SY Myotonic dystrophy 2.
SY PROMM.
SY Proximal myotonic myopathy.
SY Ricker syndrome.
DR MIM; 602668; phenotype.
DR MedGen; C0752354.
DR MedGen; C2931689.
DR MeSH; D009223.
DR MeSH; D020967.
//
ID Early-onset hypertension with severe exacerbation in pregnancy.
AC DI-01513
AR EOHSEP.
DE Inheritance is autosomal dominant. The disease is characterized by the
DE onset of severe hypertension before the age of 20, and by suppression
DE of aldosterone secretion.
DR MIM; 605115; phenotype.
DR MedGen; C1854631.
DR MeSH; D006973.
//
ID Ectodermal dysplasia 1, hypohidrotic, X-linked.
AC DI-00430
AR XHED.
DE A form of ectodermal dysplasia, a heterogeneous group of disorders due
DE to abnormal development of two or more ectodermal structures.
DE Characterized by sparse hair (atrichosis or hypotrichosis), abnormal
DE or missing teeth and the inability to sweat due to the absence of
DE sweat glands. It is the most common form of over 150 clinically
DE distinct ectodermal dysplasias.
SY Christ-Siemens-Touraine syndrome.
SY CST syndrome.
SY ECTD1.
SY Ectodermal dysplasia 1.
SY Ectodermal dysplasia 1 hypohidrotic/hair/tooth type X-linked.
SY Ectodermal dysplasia anhidrotic.
SY ED1.
SY EDA.
SY EDA1.
SY XLHED.
DR MIM; 305100; phenotype.
DR MedGen; C0162359.
DR MeSH; D053358.
KW KW-0038:Ectodermal dysplasia.
//
ID Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant.
AC DI-00432
AR ECTD10A.
DE A form of ectodermal dysplasia, a heterogeneous group of disorders due
DE to abnormal development of two or more ectodermal structures. It is an
DE autosomal dominant condition characterized by hypotrichosis, abnormal
DE or missing teeth, and hypohidrosis due to the absence of sweat glands.
SY Ectodermal dysplasia 3.
SY Ectodermal dysplasia hypohidrotic autosomal dominant.
SY ED3.
SY EDA3.
SY HED.
DR MIM; 129490; phenotype.
DR MedGen; C1720965.
DR MeSH; D053359.
KW KW-0038:Ectodermal dysplasia.
//
ID Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive.
AC DI-00422
AR ECTD10B.
DE A disorder due to abnormal development of two or more ectodermal
DE structures, and characterized by sparse hair (atrichosis or
DE hypotrichosis), abnormal or missing teeth and the inability to sweat
DE due to the absence of sweat glands.
SY Ectodermal dysplasia anhidrotic.
SY Ectodermal dysplasia hypohidrotic autosomal recessive.
SY EDA.
SY HED.
DR MIM; 224900; phenotype.
DR MedGen; C0406702.
DR MeSH; D004476.
DR MeSH; D053360.
KW KW-0038:Ectodermal dysplasia.
//
ID Ectodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant.
AC DI-03617
AR ECTD11A.
DE A form of ectodermal dysplasia, a heterogeneous group of disorders due
DE to abnormal development of two or more ectodermal structures. It is an
DE autosomal dominant condition characterized by hypotrichosis, abnormal
DE or missing teeth, and hypohidrosis due to the absence of sweat glands.
SY Ectodermal dysplasia hypohidrotic autosomal dominant.
SY HED.
DR MIM; 614940; phenotype.
DR MedGen; C3541517.
DR MedGen; CN160753.
DR MeSH; D053359.
KW KW-0038:Ectodermal dysplasia.
//
ID Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive.
AC DI-03618
AR ECTD11B.
DE A disorder due to abnormal development of two or more ectodermal
DE structures, and characterized by sparse hair (atrichosis or
DE hypotrichosis), abnormal or missing teeth and the inability to sweat
DE due to the absence of sweat glands.
SY Ectodermal dysplasia anhidrotic.
SY Ectodermal dysplasia hypohidrotic autosomal recessive.
SY EDA.
SY HED.
DR MIM; 614941; phenotype.
DR MedGen; C3539920.
DR MedGen; CN160754.
DR MeSH; D004476.
DR MeSH; D053360.
KW KW-0038:Ectodermal dysplasia.
//
ID Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type.
AC DI-04948
AR ECTD12.
DE A form of ectodermal dysplasia, a disorder due to abnormal development
DE of two or more ectodermal structures. ECTD12 is an autosomal dominant,
DE hypohidrotic form characterized by sparse hair (atrichosis or
DE hypotrichosis), abnormal or missing teeth, and the inability to sweat
DE due to defective development of sweat glands.
DR MIM; 617337; phenotype.
DR MedGen; CN240497.
DR MeSH; D004476.
KW KW-0038:Ectodermal dysplasia.
//
ID Ectodermal dysplasia 13, hair/tooth type.
AC DI-04968
AR ECTD13.
DE A form of ectodermal dysplasia, a disorder due to abnormal development
DE of two or more ectodermal structures. ECTD13 is an autosomal recessive
DE form characterized by severe oligodontia accompanied by anomalies of
DE hair and skin.
DR MIM; 617392; phenotype.
DR MedGen; CN240911.
DR MeSH; D004476.
KW KW-0038:Ectodermal dysplasia.
//
ID Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis.
AC DI-05382
AR ECTD14.
DE A form of ectodermal dysplasia, a disorder due to abnormal development
DE of two or more ectodermal structures. ECTD14 is an autosomal recessive
DE form characterized by scalp hypotrichosis, hypodontia, and mild facial
DE dysmorphism. Some patients have decreased sweating.
DR MIM; 618180; phenotype.
DR MedGen; CN257776.
DR MeSH; D004476.
KW KW-0038:Ectodermal dysplasia.
//
ID Ectodermal dysplasia 15, hypohidrotic/hair type.
AC DI-05636
AR ECTD15.
DE A form of ectodermal dysplasia, a disorder due to abnormal development
DE of two or more ectodermal structures. ECTD15 is an autosomal recessive
DE form characterized by hypotrichosis and absence of sweating except
DE with extreme exercise. Skin is dry from birth and eczematous lesions
DE may develop in adulthood. Other features include blepharitis and
DE photophobia.
DR MIM; 618535; phenotype.
DR MedGen; CN262183.
DR MeSH; D004476.
KW KW-0038:Ectodermal dysplasia.
//
ID Ectodermal dysplasia 2, Clouston type.
AC DI-00431
AR ECTD2.
DE A form of ectodermal dysplasia, a heterogeneous group of disorders due
DE to abnormal development of two or more ectodermal structures such as
DE hair, teeth, nails and sweat glands, with or without any additional
DE clinical sign. Each combination of clinical features represents a
DE different type of ectodermal dysplasia. ECTD2 is an autosomal dominant
DE condition characterized by atrichosis, nail hypoplasia and
DE deformities, hyperpigmentation of the skin, normal teeth, normal sweat
DE and sebaceous gland function. Palmoplantar hyperkeratosis is a
DE frequent feature. Hearing impairment has been detected in few cases.
SY Clouston syndrome.
SY Ectodermal dysplasia 2 hidrotic.
SY Ectodermal dysplasia hidrotic autosomal dominant.
SY ED2.
SY HED2.
DR MIM; 129500; phenotype.
DR MedGen; C0162361.
DR MeSH; D004476.
KW KW-0038:Ectodermal dysplasia.
KW KW-1007:Palmoplantar keratoderma.
//
ID Ectodermal dysplasia 3, Witkop type.
AC DI-01148
AR ECTD3.
DE A form of ectodermal dysplasia, a heterogeneous group of disorders due
DE to abnormal development of two or more ectodermal structures such as
DE hair, teeth, nails and sweat glands, with or without any additional
DE clinical sign. Each combination of clinical features represents a
DE different type of ectodermal dysplasia. ECTD3 is characterized by
DE abnormalities largely limited largely to teeth (some of which are
DE missing) and nails (which are poorly formed early in life, especially
DE toenails). This condition is distinguished from anhidrotic ectodermal
DE dysplasia by autosomal dominant inheritance and little involvement of
DE hair and sweat glands. The teeth are not as severely affected.
SY Dysplasia of nails with hypodontia.
SY Ectodermal dysplasia 3, tooth/nail type.
SY Hypodontia-nail dysgenesis.
SY TNS.
SY Tooth-and-nail syndrome.
SY Witkop syndrome.
DR MIM; 189500; phenotype.
DR MedGen; C0406735.
DR MeSH; D000848.
DR MeSH; D004476.
KW KW-0038:Ectodermal dysplasia.
//
ID Ectodermal dysplasia 4, hair/nail type.
AC DI-00427
AR ECTD4.
DE A form of ectodermal dysplasia, a heterogeneous group of disorders due
DE to abnormal development of two or more ectodermal structures such as
DE hair, teeth, nails and sweat glands, with or without any additional
DE clinical sign. Each combination of clinical features represents a
DE different type of ectodermal dysplasia. ECTD4 is characterized by
DE complete alopecia, hypotricosis and nail dystrophy in all digits.
DE There is no evidence of any other abnormality. Inheritance can be
DE autosomal dominant or recessive.
SY Ectodermal dysplasia pure hair-nail type.
DR MIM; 602032; phenotype.
DR MedGen; C1865951.
DR MeSH; D004476.
KW KW-0038:Ectodermal dysplasia.
KW KW-1063:Hypotrichosis.
//
ID Ectodermal dysplasia 7, hair/nail type.
AC DI-04166
AR ECTD7.
DE A form of ectodermal dysplasia, a heterogeneous group of disorders due
DE to abnormal development of two or more ectodermal structures such as
DE hair, teeth, nails and sweat glands, with or without any additional
DE clinical sign. Each combination of clinical features represents a
DE different type of ectodermal dysplasia. Ectodermal dysplasia of the
DE hair/nail type is characterized by hypotrichosis and nail dystrophy
DE without non-ectodermal or other ectodermal manifestations.
DR MIM; 614929; phenotype.
DR MedGen; C3554117.
DR MedGen; CN160609.
DR MeSH; D004476.
KW KW-0038:Ectodermal dysplasia.
KW KW-1063:Hypotrichosis.
//
ID Ectodermal dysplasia 9, hair/nail type.
AC DI-03620
AR ECTD9.
DE A form of ectodermal dysplasia, a heterogeneous group of disorders due
DE to abnormal development of two or more ectodermal structures such as
DE hair, teeth, nails and sweat glands, with or without any additional
DE clinical sign. Each combination of clinical features represents a
DE different type of ectodermal dysplasia. ECTD9 is characterized by
DE hypotrichosis and nail dystrophy without non-ectodermal or other
DE ectodermal manifestations. Hypotrichosis usually occurs after birth
DE with varying degrees of severity, ranging from mild hair loss to
DE complete atrichia, including the loss of scalp hair, beard, eyebrows,
DE eyelashes, axillary hair, and pubic hair. Nail dystrophy affects all
DE 20 digits by causing short fragile nails or spoon nails (koilonychia).
DR MIM; 614931; phenotype.
DR MedGen; C3554127.
DR MedGen; CN160610.
DR MeSH; D004476.
KW KW-0038:Ectodermal dysplasia.
//
ID Ectodermal dysplasia and immunodeficiency 1.
AC DI-00424
AR EDAID1.
DE A form of ectoderma dysplasia, a heterogeneous group of disorders due
DE to abnormal development of two or more ectodermal structures. EDAID1
DE is an X-linked recessive disorder characterized by absence of sweat
DE glands, sparse scalp hair, rare conical teeth and immunological
DE abnormalities resulting in severe infectious diseases. Severely
DE affected individuals may also show lymphedema, osteopetrosis, and,
DE rarely, hematologic abnormalities. The phenotype is highly variable,
DE and may be fatal in childhood.
SY Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis and lymphedema.
SY Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked.
SY Ectodermal dysplasia anhidrotic with immune deficiency.
SY Ectodermal dysplasia hypohidrotic with immunodeficiency.
SY EDA-ID.
SY HED-ID.
SY Hyper-IgM immunodeficiency X-linked with ectodermal dysplasia hypohidrotic.
SY NEMO deficiency.
SY OLEDAID.
SY XHM-ED.
DR MIM; 300291; phenotype.
DR MedGen; C1846006.
DR MedGen; C1846007.
DR MedGen; C1846008.
DR MeSH; D004476.
KW KW-0038:Ectodermal dysplasia.
//
ID Ectodermal dysplasia and immunodeficiency 2.
AC DI-00425
AR EDAID2.
DE A form of ectoderma dysplasia, a heterogeneous group of disorders due
DE to abnormal development of two or more ectodermal structures. This
DE form of ectodermal dysplasia is associated with decreased production
DE of pro-inflammatory cytokines and certain interferons, rendering
DE patients susceptible to infection. EDAID2 inheritance is autosomal
DE dominant.
SY Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency autosomal dominant.
SY Ectodermal dysplasia hypohidrotic with immunodeficiency.
SY HED-ID.
DR MIM; 612132; phenotype.
DR MedGen; C2677481.
DR MeSH; D004476.
KW KW-0038:Ectodermal dysplasia.
//
ID Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies.
AC DI-05728
AR EDFAOB.
DE A neuroectodermal syndrome characterized by linear hypopigmentation,
DE alopecia, apparently asymptomatic leukoencephalopathy, and facial,
DE ocular, dental and acral anomalies. Patients show no intellectual or
DE neurologic impairment.
DR MIM; 618727; phenotype.
DR MedGen; CN263104.
DR MeSH; D004476.
KW KW-0038:Ectodermal dysplasia.
//
ID Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome.
AC DI-00433
AR EEMS.
DE A form of ectodermal dysplasia, a heterogeneous group of disorders due
DE to abnormal development of two or more ectodermal structures. It is an
DE autosomal recessive condition characterized by features of ectodermal
DE dysplasia such as sparse eyebrows and scalp hair, and selective tooth
DE agenesis associated with macular dystrophy and ectrodactyly.
SY Albrectsen-Svendsen syndrome.
SY EEM syndrome.
SY Ohdo-Hirayama-Terawaki syndrome.
DR MIM; 225280; phenotype.
DR MedGen; C1857041.
DR MeSH; D004476.
DR MeSH; D008268.
DR MeSH; D017880.
KW KW-0038:Ectodermal dysplasia.
//
ID Ectodermal dysplasia, Margarita Island type.
AC DI-00426
AR EDMI.
DE An autosomal recessive form of ectodermal dysplasia, a heterogeneous
DE group of disorders due to abnormal development of two or more
DE ectodermal structures. It is a syndrome characterized by the
DE association of cleft lip/palate, ectodermal dysplasia (sparse short
DE and dry scalp hair, sparse eyebrows and eyelashes), and partial
DE syndactyly of the fingers and/or toes. Two thirds of the patients do
DE not manifest oral cleft but present with abnormal teeth and nails.
SY Cleft lip/palate-ectodermal dysplasia syndrome.
SY CLPED1.
SY Ectodermal dysplasia Margarita type.
SY Ectodermal dysplasia type 4.
SY ED4.
SY Margarita Island ectodermal dysplasia.
SY Syndactyly-ectodermal dysplasia-cleft lip/palate.
SY Zlotogora-Ogur syndrome.
DR MIM; 225060; phenotype.
DR MedGen; C2931488.
DR MedGen; CN074253.
DR MeSH; D004476.
KW KW-0038:Ectodermal dysplasia.
//
ID Ectodermal dysplasia-skin fragility syndrome.
AC DI-00429
AR EDSFS.
DE A form of ectodermal dysplasia, a heterogeneous group of disorders due
DE to abnormal development of two or more ectodermal structures.
DE Characterized by features of both cutaneous fragility and congenital
DE ectodermal dysplasia affecting skin, hair and nails. There is no
DE evidence of significant abnormalities in other epithelia or tissues.
DE Desmosomes in the skin are small and poorly formed with widening of
DE keratinocyte intercellular spaces and perturbed desmosome/keratin
DE intermediate filament interactions.
SY Ectodermal dysplasia/skin fragility syndrome.
SY McGrath syndrome.
DR MIM; 604536; phenotype.
DR MedGen; C1858302.
DR MeSH; D004476.
KW KW-0038:Ectodermal dysplasia.
//
ID Ectodermal dysplasia-syndactyly syndrome 1.
AC DI-02899
AR EDSS1.
DE A form of ectodermal dysplasia, a heterogeneous group of disorders due
DE to abnormal development of two or more ectodermal structures. EDSS1 is
DE characterized by the association of hair and teeth abnormalities with
DE cutaneous syndactyly of the hands and/or feet. Hair morphologic
DE abnormalities include twists at irregular intervals (pilli torti) and
DE swelling along the shafts, particularly associated with areas of
DE breakage. Dental findings consist of abnormally widely spaced teeth,
DE with peg-shaped and conical crowns. Patients have normal sweating.
DR MIM; 613573; phenotype.
DR MedGen; C3150807.
DR MeSH; D004476.
KW KW-0038:Ectodermal dysplasia.
//
ID Ectodermal dysplasia/short stature syndrome.
AC DI-04239
AR ECTDS.
DE An autosomal recessive ectodermal dysplasia syndrome characterized by
DE nail dystrophy and/or loss, oral mucosa and/or tongue pigmentation,
DE abnormal dentition, keratoderma affecting the margins of the palms and
DE soles, focal hyperkeratosis of the dorsal aspects of the hands and
DE feet, and short stature.
DR MIM; 616029; phenotype.
DR MedGen; CN219576.
DR MeSH; D004392.
DR MeSH; D004476.
KW KW-0038:Ectodermal dysplasia.
KW KW-0242:Dwarfism.
//
ID Ectopia lentis 1, isolated, autosomal dominant.
AC DI-01839
AR ECTOL1.
DE An ocular abnormality characterized by partial or complete
DE displacement of the lens from its space resulting from defective
DE zonule formation.
DR MIM; 129600; phenotype.
DR MedGen; C1851286.
DR MedGen; C2746069.
DR MedGen; C3149104.
DR MedGen; C3541518.
DR MeSH; D004479.
//
ID Ectopia lentis 2, isolated, autosomal recessive.
AC DI-01244
AR ECTOL2.
DE An ocular abnormality characterized by partial or complete
DE displacement of the lens from its space resulting from defective
DE zonule formation.
DR MIM; 225100; phenotype.
DR MedGen; C2673634.
DR MeSH; D004479.
//
ID Ectopia lentis et pupillae.
AC DI-03690
AR ECTOLP.
DE An ocular abnormality characterized by displacement of the lenses and
DE the pupils, associated with other ocular anomalies, but without
DE systemic manifestations. The condition is usually bilateral, with the
DE lenses and pupils displaced in opposite directions. Additional signs
DE include enlarged corneal diameter, increased corneal astigmatism,
DE increased anterior chamber depth, thinning and flattening of the iris
DE with loss of crypts, angle malformation caused by enlarged iris
DE processes, persistent pupillary membrane, loss of zonular fibers,
DE tilted disk, and increased axial length. Secondary manifestations
DE include refractive errors, glaucoma, early cataract development, and
DE retinal detachment. Membrane formation on the posterior aspect of the
DE iris has been observed both in histologic sections and on ultrasound
DE biomicroscopy.
DR MIM; 225200; phenotype.
DR MedGen; C1644196.
DR MeSH; D004479.
DR MeSH; D011681.
//
ID Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.
AC DI-00434
AR EEC3.
DE A form of ectodermal dysplasia, a heterogeneous group of disorders due
DE to abnormal development of two or more ectodermal structures. It is an
DE autosomal dominant syndrome characterized by ectrodactyly of hands and
DE feet, ectodermal dysplasia and facial clefting.
DR MIM; 604292; phenotype.
DR MedGen; C1858562.
DR MeSH; D002972.
DR MeSH; D004476.
DR MeSH; D017880.
KW KW-0038:Ectodermal dysplasia.
//
ID Ehlers-Danlos syndrome, arthrochalasia type, 1.
AC DI-00442
AR EDSARTH1.
DE A form of Ehlers-Danlos syndrome, a connective tissue disorder
DE characterized by hyperextensible skin, atrophic cutaneous scars due to
DE tissue fragility and joint hyperlaxity. EDSARTH1 is an autosomal
DE dominant form characterized by frequent congenital hip dislocation and
DE extreme joint laxity with recurrent joint subluxations and minimal
DE skin involvement.
SY Arthrochalasis multiplex congenita.
SY EDS7A.
SY EDS VIIA.
SY EDS VII mutant procollagen type.
SY Ehlers-Danlos syndrome 7A.
SY Ehlers-Danlos syndrome arthrochalasic type.
SY Ehlers-Danlos syndrome type VIIA, autosomal dominant.
DR MIM; 130060; phenotype.
DR MedGen; CN071434.
DR MeSH; D004535.
KW KW-0248:Ehlers-Danlos syndrome.
//
ID Ehlers-Danlos syndrome, arthrochalasia type, 2.
AC DI-05166
AR EDSARTH2.
DE A form of Ehlers-Danlos syndrome, a connective tissue disorder
DE characterized by hyperextensible skin, atrophic cutaneous scars due to
DE tissue fragility and joint hyperlaxity. EDSARTH2 is an autosomal
DE dominant condition characterized by frequent congenital hip
DE dislocation and extreme joint laxity with recurrent joint subluxations
DE and minimal skin involvement.
SY EDS7B.
SY EDS VIIB.
SY Ehlers-Danlos syndrome, type VIIB, autosomal dominant.
SY Ehlers-Danlos syndrome 7B.
DR MIM; 617821; phenotype.
DR MedGen; CN706304.
DR MeSH; D004535.
KW KW-0248:Ehlers-Danlos syndrome.
//
ID Ehlers-Danlos syndrome, cardiac valvular type.
AC DI-01317
AR EDSCV.
DE A form of Ehlers-Danlos syndrome, a group of connective tissue
DE disorders characterized by skin hyperextensibility, articular
DE hypermobility, and tissue fragility. EDSCV is an autosomal recessive
DE disease characterized by mitral valve prolapse and insufficiency,
DE mitral regurgitation, and aortic insufficiency, in addition to joint
DE laxity, skin hyperextensibility and friability, and abnormal scar
DE formation.
SY Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form.
DR MIM; 225320; phenotype.
DR MedGen; C1857034.
DR MeSH; D004535.
KW KW-0248:Ehlers-Danlos syndrome.
//
ID Ehlers-Danlos syndrome, classic type, 1.
AC DI-00436
AR EDSCL1.
DE A form of Ehlers-Danlos syndrome, a group of connective tissue
DE disorders characterized by skin hyperextensibility, articular
DE hypermobility, and tissue fragility. The main features of classic
DE Ehlers-Danlos syndrome are joint hypermobility and dislocation, and
DE fragile, bruisable skin. EDSCL1 inheritance is autosomal dominant.
SY EDS1.
SY EDS I.
SY Ehlers-Danlos syndrome, gravis type.
SY Ehlers-Danlos syndrome, severe classic type.
SY Ehlers-Danlos syndrome, type I.
SY Ehlers-Danlos syndrome 1.
DR MIM; 130000; phenotype.
DR MedGen; C0268335.
DR MeSH; D004535.
KW KW-0248:Ehlers-Danlos syndrome.
//
ID Ehlers-Danlos syndrome, classic type, 2.
AC DI-00437
AR EDSCL2.
DE A form of Ehlers-Danlos syndrome, a group of connective tissue
DE disorders characterized by skin hyperextensibility, articular
DE hypermobility, and tissue fragility. The main features of classic
DE Ehlers-Danlos syndrome are joint hypermobility and dislocation, and
DE fragile, bruisable skin. EDSCL2 inheritance is autosomal dominant.
SY EDS2.
SY EDS II.
SY Ehlers-Danlos syndrome, type II.
SY Ehlers-Danlos syndrome 2.
SY Ehlers-Danlos syndrome mild classic type.
SY Ehlers-Danlos syndrome mitis type.
DR MIM; 130010; phenotype.
DR MedGen; C0268336.
DR MeSH; D004535.
KW KW-0248:Ehlers-Danlos syndrome.
//
ID Ehlers-Danlos syndrome, classic-like.
AC DI-01097
AR EDSCLL.
DE A form of Ehlers-Danlos syndrome, a group of connective tissue
DE disorders characterized by skin hyperextensibility, articular
DE hypermobility, and tissue fragility. EDSCLL patients lack atrophic
DE scars, a major diagnostic criteria for classic Ehlers-Danlos syndrome.
DE Delayed wound healing is only present in a subset of patients. EDSCLL
DE inheritance is autosomal recessive.
SY EDS due to TNX deficiency.
SY Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency.
SY Ehlers-Danlos syndrome due to tenascin X deficiency.
SY Tenascin-X deficiency.
SY TNX deficiency.
DR MIM; 606408; phenotype.
DR MedGen; C1848029.
DR MeSH; D004535.
KW KW-0248:Ehlers-Danlos syndrome.
//
ID Ehlers-Danlos syndrome, classic-like, 2.
AC DI-05255
AR EDSCLL2.
DE A variant form of Ehlers-Danlos syndrome, a connective tissue
DE disorder. EDSCLL2 patients show severe joint and skin laxity,
DE osteoporosis affecting the hips and spine, osteoarthritis, soft
DE redundant skin that can be acrogeria-like, delayed wound healing with
DE abnormal atrophic scarring, and shoulder, hip, knee, and ankle
DE dislocations. Additional variable features include gastrointestinal
DE and genitourinary manifestations (bowel rupture, gut dysmotility,
DE cryptorchidism, and hernias), vascular complications (mitral valve
DE prolapse and aortic root dilation), and skeletal anomalies. EDSCLL2
DE inheritance is autosomal recessive.
DR MIM; 618000; phenotype.
DR MedGen; CN248508.
DR MeSH; D004535.
KW KW-0248:Ehlers-Danlos syndrome.
//
ID Ehlers-Danlos syndrome, dermatosparaxis type.
AC DI-00444
AR EDSDERMS.
DE A form of Ehlers-Danlos syndrome, a group of connective tissue
DE disorders characterized by skin hyperextensibility, articular
DE hypermobility, and tissue fragility. EDSDERMS is an autosomal
DE recessive form characterized by extreme skin fragility and easy
DE bruising, large fontanels, blue sclerae, puffy eyelids, micrognathia,
DE umbilical hernia, and short fingers. Joint hypermobility becomes more
DE important with age.
SY Dermatosparaxis.
SY EDS7C.
SY EDS VIIC.
SY Ehlers-Danlos syndrome, type VII, autosomal recessive.
SY Ehlers-Danlos syndrome 7C.
DR MIM; 225410; phenotype.
DR MedGen; C2700425.
DR MeSH; D004535.
KW KW-0248:Ehlers-Danlos syndrome.
//
ID Ehlers-danlos syndrome, hypermobility type.
AC DI-00438
AR EDSHMB.
DE A connective tissue disorder characterized by hyperextensible skin,
DE atrophic cutaneous scars due to tissue fragility and joint
DE hyperlaxity. It is a form of Ehlers-Danlos syndrome characterized by
DE marked joint hyperextensibility without skeletal deformity.
SY Benign hypermobility syndrome.
SY EDS III.
SY Ehlers-Danlos syndrome, hypermobility type.
SY Ehlers-Danlos syndrome, type III.
DR MIM; 130020; phenotype.
DR MedGen; C0268337.
DR MeSH; D004535.
KW KW-0248:Ehlers-Danlos syndrome.
//
ID Ehlers-Danlos syndrome, kyphoscoliotic type, 1.
AC DI-00440
AR EDSKSCL1.
DE A form of Ehlers-Danlos syndrome, a group of connective tissue
DE disorders characterized by skin hyperextensibility, articular
DE hypermobility, and tissue fragility. EDSKSCL1 is an autosomal
DE recessive form characterized by severe muscle hypotonia at birth,
DE generalized joint laxity, scoliosis at birth, and scleral fragility
DE and rupture of the ocular globe.
SY EDS6.
SY EDS6A.
SY EDS VI.
SY EDS VIA.
SY Ehlers-Danlos syndrome 6.
SY Ehlers-Danlos syndrome kyphoscoliotic type.
SY Ehlers-Danlos syndrome oculoscoliotic type.
SY Nevo syndrome.
DR MIM; 225400; phenotype.
DR MedGen; C0268342.
DR MeSH; D004535.
KW KW-0248:Ehlers-Danlos syndrome.
//
ID Ehlers-Danlos syndrome, kyphoscoliotic type, 2.
AC DI-03408
AR EDSKSCL2.
DE A form of Ehlers-Danlos syndrome, a group of connective tissue
DE disorders characterized by skin hyperextensibility, articular
DE hypermobility, and tissue fragility. EDSKSCL2 is an autosomal
DE recessive form characterized by severe generalized hypotonia at birth,
DE myopathy, early-onset progressive kyphoscoliosis, joint hypermobility
DE without contractures, hyperelastic skin with follicular
DE hyperkeratosis, easy bruising, and occasional abnormal scarring,
DE sensorineural hearing impairment, and normal pyridinoline excretion in
DE urine.
SY EDSKMH.
SY Ehlers-Danlos syndrome, with progressive kyphoscoliosis, myopathy, and hearing loss.
DR MIM; 614557; phenotype.
DR MedGen; C3281160.
DR MeSH; D004535.
DR MeSH; D034381.
KW KW-0209:Deafness.
KW KW-0248:Ehlers-Danlos syndrome.
//
ID Ehlers-Danlos syndrome, musculocontractural type 1.
AC DI-02810
AR EDSMC1.
DE A form of Ehlers-Danlos syndrome characterized by distinctive
DE craniofacial dysmorphism, congenital contractures of thumbs and
DE fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia,
DE hyperextensible thin skin with easy bruisability and atrophic
DE scarring, wrinkled palms, joint hypermobility, and ocular involvement.
SY Adducted thumb-clubfoot syndrome.
SY Adducted thumbs-arthrogryposis Dundar type.
SY Arthrogryposis distal with peculiar facies and hydronephrosis.
SY ATCS.
SY Dundar syndrome.
SY EDS6B formerly.
SY EDSMC.
SY Ehlers-Danlos syndrome type VIB formerly.
DR MIM; 601776; phenotype.
DR MedGen; C1866294.
DR MeSH; D004535.
KW KW-0248:Ehlers-Danlos syndrome.
//
ID Ehlers-Danlos syndrome, musculocontractural type 2.
AC DI-03960
AR EDSMC2.
DE A form of Ehlers-Danlos syndrome characterized by progressive
DE multisystem manifestations, including joint dislocations and
DE deformities, skin hyperextensibility, skin bruisability and fragility
DE with recurrent large subcutaneous hematomas, cardiac valvular,
DE respiratory, gastrointestinal, and ophthalmologic complications. Motor
DE developmental delay is associated with muscle hypoplasia, muscle
DE weakness, and an abnormal muscle fiber pattern in histology in
DE adulthood.
DR MIM; 615539; phenotype.
DR MedGen; C3809845.
DR MedGen; CN181762.
DR MeSH; D004535.
KW KW-0248:Ehlers-Danlos syndrome.
//
ID Ehlers-Danlos syndrome, periodontal type, 1.
AC DI-04848
AR EDSPD1.
DE A form of Ehlers-Danlos syndrome, a connective tissue disorder
DE characterized by hyperextensible skin, atrophic cutaneous scars due to
DE tissue fragility and joint hyperlaxity. EDSPD1 is characterized by the
DE association of typical features of Ehlers-Danlos syndrome with
DE gingival recession and severe early-onset periodontal disease, leading
DE to premature loss of permanent teeth. EDSPD1 inheritance is autosomal
DE dominant.
SY EDS8.
SY EDS VIII.
SY Ehlers-Danlos syndrome, periodontitis type.
SY Ehlers-Danlos syndrome, periodontosis type.
SY Ehlers-Danlos syndrome, type VIII.
DR MIM; 130080; phenotype.
DR MedGen; C0268347.
DR MeSH; D004535.
KW KW-0248:Ehlers-Danlos syndrome.
//
ID Ehlers-Danlos syndrome, periodontal type, 2.
AC DI-04849
AR EDSPD2.
DE A form of Ehlers-Danlos syndrome, a connective tissue disorder
DE characterized by hyperextensible skin, atrophic cutaneous scars due to
DE tissue fragility and joint hyperlaxity. EDSPD2 is characterized by the
DE association of typical features of Ehlers-Danlos syndrome with
DE gingival recession and severe early-onset periodontal disease, leading
DE to premature loss of permanent teeth. EDSPD2 transmission pattern is
DE consistent with autosomal dominant inheritance.
DR MIM; 617174; phenotype.
DR MedGen; CN238849.
DR MeSH; D004535.
KW KW-0248:Ehlers-Danlos syndrome.
//
ID Ehlers-Danlos syndrome, spondylodysplastic type, 1.
AC DI-00435
AR EDSSPD1.
DE A form of Ehlers-Danlos syndrome, a group of connective tissue
DE disorders characterized by skin hyperextensibility, articular
DE hypermobility, and tissue fragility. EDSSPD1 is an autosomal recessive
DE form characterized by short stature, developmental anomalies of the
DE forearm bones and elbow, and bowing of extremities, in addition to the
DE classic features of Ehlers-Danlos syndrome.
SY Defective biosynthesis of PDS.
SY Defective biosynthesis of proteodermatan sulfate.
SY EDSP1.
SY EDSSLA.
SY Ehlers-Danlos syndrome, progeroid type, 1.
SY Ehlers-Danlos syndrome with short stature and limb anomalies.
SY Galactosyltransferase I deficiency.
SY XGPT deficiency.
SY Xylosylprotein 4-beta-galactosyltransferase deficiency.
DR MIM; 130070; phenotype.
DR MedGen; C1869122.
DR MeSH; D004535.
KW KW-0242:Dwarfism.
KW KW-0248:Ehlers-Danlos syndrome.
//
ID Ehlers-Danlos syndrome, spondylodysplastic type, 2.
AC DI-03844
AR EDSSPD2.
DE A form of Ehlers-Danlos syndrome, a group of connective tissue
DE disorders characterized by skin hyperextensibility, articular
DE hypermobility, and tissue fragility. EDSSPD2 is an autosomal recessive
DE form characterized by an aged appearance, developmental delay, short
DE stature, craniofacial disproportion, generalized osteopenia, defective
DE wound healing, hypermobile joints, hypotonic muscles, and loose but
DE elastic skin.
SY EDSP2.
SY Ehlers-Danlos syndrome, progeroid type, 2.
DR MIM; 615349; phenotype.
DR MedGen; C3809210.
DR MeSH; D004535.
KW KW-0248:Ehlers-Danlos syndrome.
//
ID Ehlers-Danlos syndrome, spondylodysplastic type, 3.
AC DI-01517
AR EDSSPD3.
DE A form of Ehlers-Danlos syndrome, a group of connective tissue
DE disorders characterized by skin hyperextensibility, articular
DE hypermobility, and tissue fragility. EDSSPD3 is an autosomal recessive
DE form characterized by a generalized skeletal dysplasia involving
DE mainly the spine and striking clinical abnormalities of the hands, in
DE addition to classic features of Ehlers-Danlos syndrome. Clinical
DE features include postnatal growth retardation, moderate short stature,
DE protuberant eyes with bluish sclerae, hands with finely wrinkled
DE palms, atrophy of the thenar muscles, and tapering fingers. Radiologic
DE features include mild to moderate platyspondyly, mild to moderate
DE osteopenia of the spine, small ileum, flat proximal femoral epiphyses,
DE short, wide femoral necks, and broad metaphyses (elbows, knees,
DE wrists, and interphalangeal joints).
SY Ehlers-Danlos syndrome-like spondylocheirodysplasia.
SY SCD-EDS.
DR MIM; 612350; phenotype.
DR MedGen; C2676510.
DR MeSH; D004535.
KW KW-0248:Ehlers-Danlos syndrome.
//
ID Ehlers-Danlos syndrome, vascular type.
AC DI-00439
AR EDSVASC.
DE A severe form of Ehlers-Danlos syndrome, a group of connective tissue
DE disorders characterized by skin hyperextensibility, articular
DE hypermobility, and tissue fragility. EDSVASC is an autosomal dominant
DE disease characterized by joint and dermal manifestations as in other
DE forms of the syndrome, and by proneness to spontaneous rupture of
DE bowel and large arteries. The vascular complications may affect all
DE anatomical areas.
SY EDS4.
SY EDS IV.
SY Ehlers-Danlos syndrome, type IV, autosomal dominant.
SY Ehlers-Danlos syndrome 4.
SY Ehlers-Danlos syndrome arterial type.
SY Ehlers-Danlos syndrome ecchymotic type.
SY Sack-Barabas syndrome.
DR MIM; 130050; phenotype.
DR MedGen; C0268338.
DR MeSH; D004535.
KW KW-0248:Ehlers-Danlos syndrome.
//
ID Eiken syndrome.
AC DI-01518
AR EKNS.
DE An autosomal recessive skeletal dysplasia characterized by severely
DE retarded ossification, principally of the epiphyses, pelvis, hands and
DE feet, as well as by abnormal modeling of the bones in hands and feet,
DE abnormal persistence of cartilage in the pelvis and mild growth
DE retardation.
SY Bone modeling defect of hands and feet.
SY Eiken skeletal dysplasia.
DR MIM; 600002; phenotype.
DR MedGen; C1838779.
DR MeSH; D010009.
//
ID Elejalde syndrome.
AC DI-01519
AR ELEJAS.
DE Autosomal recessive condition characterized by skin hypopigmentation,
DE the presence of large clumps of pigment in hair shafts, silvery-gray
DE hair, accumulation of melanosomes in melanocytes and primary
DE neurological abnormalities. Elejalde syndrome may be the same entity
DE as Griscelli syndrome type I.
SY Elejalde disease.
SY Neuroectodermal melanolysosomal disease.
DR MIM; 256710; phenotype.
DR MedGen; C1850466.
DR MeSH; D010859.
DR MeSH; D020752.
//
ID Elliptocytosis 1.
AC DI-00445
AR EL1.
DE A Rhesus-linked form of hereditary elliptocytosis, a genetically
DE heterogeneous, autosomal dominant hematologic disorder. It is
DE characterized by variable hemolytic anemia and elliptical or oval red
DE cell shape.
SY Elliptocytosis Rhesus-linked type.
SY Ovalocytosis.
DR MIM; 611804; phenotype.
DR MedGen; C2678497.
DR MeSH; D004612.
KW KW-0250:Elliptocytosis.
//
ID Elliptocytosis 2.
AC DI-00446
AR EL2.
DE A Rhesus-unlinked form of hereditary elliptocytosis, a genetically
DE heterogeneous, autosomal dominant hematologic disorder. It is
DE characterized by variable hemolytic anemia and elliptical or oval red
DE cell shape.
SY Elliptocytosis Rhesus-unlinked type.
SY Ovalocytosis.
DR MIM; 130600; phenotype.
DR MedGen; C1851741.
DR MeSH; D004612.
KW KW-0250:Elliptocytosis.
//
ID Elliptocytosis 3.
AC DI-00447
AR EL3.
DE A Rhesus-unlinked form of hereditary elliptocytosis, a genetically
DE heterogeneous hematologic disorder characterized by variable hemolytic
DE anemia and elliptical or oval red cell shape. Inheritance can be
DE autosomal dominant or autosomal recessive.
SY Elliptocytosis Rhesus-unlinked type.
SY Ovalocytosis.
DR MIM; 617948; phenotype.
DR MedGen; C1866810.
DR MeSH; D004612.
KW KW-0250:Elliptocytosis.
//
ID Ellis-van Creveld syndrome.
AC DI-00449
AR EVC.
DE An autosomal recessive condition characterized by the clinical tetrad
DE of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac
DE anomalies. Patients manifest short-limb dwarfism, short ribs,
DE postaxial polydactyly, and dysplastic nails and teeth. Congenital
DE heart defects, most commonly an atrioventricular septal defect, are
DE observed in 60% of affected individuals.
SY Chondroectodermal dysplasia.
SY Mesoectodermal dysplasia.
DR MIM; 225500; phenotype.
DR MedGen; C0013903.
DR MeSH; D004613.
KW KW-0038:Ectodermal dysplasia.
KW KW-1186:Ciliopathy.
//
ID Elsahy-Waters syndrome.
AC DI-05231
AR ESWS.
DE An autosomal recessive syndrome characterized by moderate intellectual
DE disability, hypospadias and characteristic craniofacial morphology,
DE which includes brachycephaly, facial asymmetry, exotropia,
DE hypertelorism, telechantus, broad nose, concave nasal ridge,
DE underdeveloped mid-face, prognathism, and radicular dentin dysplasia.
SY Brachioskeletogenital syndrome.
SY BSG syndrome.
SY Hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss.
DR MIM; 211380; phenotype.
DR MedGen; C0809936.
DR MeSH; D000015.
KW KW-0209:Deafness.
KW KW-0991:Intellectual disability.
//
ID Emery-Dreifuss muscular dystrophy 1, X-linked.
AC DI-02444
AR EDMD1.
DE A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy
DE characterized by weakness and atrophy of muscle without involvement of
DE the nervous system, early contractures of the elbows, Achilles tendons
DE and spine, and cardiomyopathy associated with cardiac conduction
DE defects.
SY EMD1.
SY Humeroperoneal neuromuscular disease.
SY Muscular dystrophy tardive Dreifuss-Emery type with contractures.
SY Scapuloperoneal syndrome X-linked.
SY X-EDMD.
SY X-linked Emery-Dreifuss muscular dystrophy.
DR MIM; 310300; phenotype.
DR MedGen; C0751337.
DR MedGen; C2931858.
DR MedGen; CN069573.
DR MeSH; D020389.
KW KW-1067:Emery-Dreifuss muscular dystrophy.
//
ID Emery-Dreifuss muscular dystrophy 2, autosomal dominant.
AC DI-01520
AR EDMD2.
DE A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy
DE characterized by weakness and atrophy of muscle without involvement of
DE the nervous system, early contractures of the elbows, Achilles tendons
DE and spine, and cardiomyopathy associated with cardiac conduction
DE defects.
SY Autosomal dominant Emery-Dreifuss muscular dystrophy.
SY Cardiomyopathy, dilated, with quadriceps myopathy.
SY EMD2.
SY Hauptmann-Thannhauser muscular dystrophy.
SY LGMD1B.
SY Limb-girdle muscular dystrophy 1B.
SY Muscular dystrophy, limb-girdle, type 1B.
SY Muscular dystrophy, proximal, type 1B.
SY Muscular dystrophy with early contractures and cardiomyopathy autosomal dominant.
SY Scapuloilioperoneal atrophy with cardiopathy.
DR MIM; 181350; phenotype.
DR MedGen; C0410190.
DR MeSH; D020389.
KW KW-0122:Cardiomyopathy.
KW KW-0947:Limb-girdle muscular dystrophy.
KW KW-1067:Emery-Dreifuss muscular dystrophy.
//
ID Emery-Dreifuss muscular dystrophy 3, autosomal recessive.
AC DI-03418
AR EDMD3.
DE A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy
DE characterized by weakness and atrophy of muscle without involvement of
DE the nervous system, early contractures of the elbows, Achilles tendons
DE and spine, and cardiomyopathy associated with cardiac conduction
DE defects.
SY Emery-Dreifuss muscular dystrophy atypical autosomal recessive.
DR MIM; 616516; phenotype.
DR MedGen; C2750034.
DR MedGen; C2750035.
DR MeSH; D020389.
KW KW-1067:Emery-Dreifuss muscular dystrophy.
//
ID Emery-Dreifuss muscular dystrophy 4, autosomal dominant.
AC DI-02519
AR EDMD4.
DE A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy
DE characterized by weakness and atrophy of muscle without involvement of
DE the nervous system, early contractures of the elbows, Achilles tendons
DE and spine, and cardiomyopathy associated with cardiac conduction
DE defects.
SY EMD4.
SY Emery-Dreifuss muscular dystrophy 4 with variable features.
DR MIM; 612998; phenotype.
DR MedGen; C2751807.
DR MeSH; D020389.
KW KW-1067:Emery-Dreifuss muscular dystrophy.
//
ID Emery-Dreifuss muscular dystrophy 5, autosomal dominant.
AC DI-02520
AR EDMD5.
DE A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy
DE characterized by weakness and atrophy of muscle without involvement of
DE the nervous system, early contractures of the elbows, Achilles tendons
DE and spine, and cardiomyopathy associated with cardiac conduction
DE defects.
SY EMD5.
DR MIM; 612999; phenotype.
DR MedGen; C2751805.
DR MeSH; D020389.
KW KW-1067:Emery-Dreifuss muscular dystrophy.
//
ID Emery-Dreifuss muscular dystrophy 6, X-linked.
AC DI-03833
AR EDMD6.
DE A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy
DE characterized by weakness and atrophy of muscle without involvement of
DE the nervous system, early contractures of the elbows, Achilles tendons
DE and spine, and cardiomyopathy associated with cardiac conduction
DE defects.
SY EMD6.
DR MIM; 300696; phenotype.
DR MedGen; C2749106.
DR MeSH; D020389.
KW KW-1067:Emery-Dreifuss muscular dystrophy.
//
ID Emery-Dreifuss muscular dystrophy 7, autosomal dominant.
AC DI-03705
AR EDMD7.
DE A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy
DE characterized by weakness and atrophy of muscle without involvement of
DE the nervous system, early contractures of the elbows, Achilles tendons
DE and spine, and cardiomyopathy associated with cardiac conduction
DE defects.
SY EMD7.
DR MIM; 614302; phenotype.
DR MedGen; C3553060.
DR MedGen; CN168055.
DR MeSH; D020389.
KW KW-1067:Emery-Dreifuss muscular dystrophy.
//
ID Encephalitis, acute, infection (viral)-induced, 11.
AC DI-06170
AR IIAE11.
DE An autosomal recessive disorder characterized by increased
DE susceptibility to viral encephalitis affecting the brainstem and
DE induced by neurotropic viruses, such as herpes simplex virus-1,
DE influenza B virus or norovirus.
DR MIM; 619441; phenotype.
DR MedGen; CN300067.
DR MeSH; D018792.
//
ID Encephalitis/encephalopathy, mild, with reversible myelin vacuolization.
AC DI-05330
AR MMERV.
DE An autosomal dominant disease characterized by episodes of acute
DE encephalitis associated with impaired consciousness, delirious
DE behavior, seizures, and reversible splenial lesions observed on
DE diffusion magnetic resonance imaging. Most patients completely recover
DE and there are no neurologic sequelae. MMERV occurs in children and is
DE frequently associated with a trigger, such as a febrile illness.
DR MIM; 618113; phenotype.
DR MedGen; CN253827.
DR MeSH; D004660.
//
ID Encephalocraniocutaneous lipomatosis.
AC DI-04665
AR ECCL.
DE A sporadically occurring, neurocutaneous disorder characterized by
DE ocular anomalies, skin lesions, and central nervous system anomalies.
DE Clinical features include a well-demarcated hairless fatty nevus on
DE the scalp, benign ocular tumors, intracranial and intraspinal lipomas,
DE and congenital abnormalities of the meninges. Seizures, spasticity,
DE and intellectual disability can be present.
DR MIM; 613001; phenotype.
DR MedGen; C0406612.
DR MeSH; D008068.
DR MeSH; D020752.
//
ID Encephalopathy due to defective mitochondrial and peroxisomal fission 1.
AC DI-03357
AR EMPF1.
DE A rare autosomal dominant systemic disorder resulting in lack of
DE neurologic development and death in infancy. After birth, infants
DE present in the first week of life with poor feeding and neurologic
DE impairment, including hypotonia, little spontaneous movement, no
DE tendon reflexes, no response to light stimulation, and poor visual
DE fixation. Other features include mildly elevated plasma concentration
DE of very-long-chain fatty acids, lactic acidosis, microcephaly, deep-
DE set eyes, optic atrophy and hypoplasia, and an abnormal gyral pattern
DE in both frontal lobes associated with dysmyelination.
SY EMPF.
SY Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission.
SY Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission 1.
DR MIM; 614388; phenotype.
DR MedGen; C3280660.
DR MeSH; D000015.
//
ID Encephalopathy due to defective mitochondrial and peroxisomal fission 2.
AC DI-04810
AR EMPF2.
DE An autosomal recessive disorder characterized by delayed psychomotor
DE development, severe hypotonia with inability to walk, microcephaly,
DE and abnormal signals in the basal ganglia. More variable features
DE include early-onset seizures, optic atrophy, and peripheral
DE neuropathy.
DR MIM; 617086; phenotype.
DR MedGen; CN238093.
DR MeSH; D000015.
//
ID Encephalopathy, acute, infection-induced, 1, herpes-specific.
AC DI-02573
AR IIAE1.
DE A rare complication of human herpesvirus 1 (HHV-1) infection,
DE occurring in only a small minority of HHV-1 infected individuals. It
DE is characterized by hemorrhagic necrosis of parts of the temporal and
DE frontal lobes. Onset is over several days and involves fever,
DE headache, seizures, stupor, and often coma, frequently with a fatal
DE outcome.
SY Encephalopathy, acute, infection-induced, 1.
SY Herpes simplex encephalitis 1.
SY HSE1.
SY Infection-induced acute encephalopathy 1.
DR MIM; 610551; phenotype.
DR MedGen; C2750180.
DR MeSH; D020803.
//
ID Encephalopathy, acute, infection-induced, 3.
AC DI-01172
AR IIAE3.
DE A rapidly progressive encephalopathy manifesting in susceptible
DE individuals with seizures and coma. It can occur within days in
DE otherwise healthy children after common viral infections such as
DE influenza and parainfluenza, without evidence of viral infection of
DE the brain or inflammatory cell infiltration. Brain T2-weighted
DE magnetic resonance imaging reveals characteristic symmetric lesions
DE present in the thalami, pons and brainstem.
SY ANE.
SY Encephalopathy acute infection-induced 3.
SY Encephalopathy acute necrotizing.
DR MIM; 608033; phenotype.
DR MedGen; C2675556.
DR MeSH; D004684.
//
ID Encephalopathy, acute, infection-induced, 4.
AC DI-03272
AR IIAE4.
DE A severe neurologic complication of an infection. It manifests within
DE days in otherwise healthy children after common viral infections,
DE without evidence of viral infection of the brain or inflammatory cell
DE infiltration. In affected children, high-grade fever is accompanied
DE within 12 to 48 hours by febrile convulsions, often leading to coma,
DE multiple-organ failure, brain edema, and high morbidity and mortality.
DE The infections are usually viral, particularly influenza, although
DE other viruses and even mycoplasma have been found to cause the
DE disorder.
SY Encephalopathy acute infection-induced 4.
DR MIM; 614212; phenotype.
DR MedGen; C3280160.
DR MeSH; D018792.
//
ID Encephalopathy, acute, infection-induced, 5, herpes-specific.
AC DI-03543
AR IIAE5.
DE A rare complication of human herpesvirus 1 (HHV-1) infection,
DE occurring in only a small minority of HHV-1 infected individuals. It
DE is characterized by hemorrhagic necrosis of parts of the temporal and
DE frontal lobes. Onset is over several days and involves fever,
DE headache, seizures, stupor, and often coma, frequently with a fatal
DE outcome.
SY Encephalopathy, acute, infection-induced, 5.
SY Herpes simplex encephalitis 3.
SY HSE3.
SY Infection-induced acute encephalopathy 5.
DR MIM; 614849; phenotype.
DR MedGen; C3553868.
DR MeSH; D020803.
//
ID Encephalopathy, acute, infection-induced, 6, herpes-specific.
AC DI-03544
AR IIAE6.
DE A rare complication of human herpesvirus 1 (HHV-1) infection,
DE occurring in only a small minority of HHV-1 infected individuals. It
DE is characterized by hemorrhagic necrosis of parts of the temporal and
DE frontal lobes. Onset is over several days and involves fever,
DE headache, seizures, stupor, and often coma, frequently with a fatal
DE outcome.
SY Encephalopathy, acute, infection-induced, 6.
SY Herpes simplex encephalitis 4.
SY HSE4.
DR MIM; 614850; phenotype.
DR MedGen; C3553869.
DR MeSH; D020803.
//
ID Encephalopathy, acute, infection-induced, 7, herpes-specific.
AC DI-04529
AR IIAE7.
DE A rare complication of human herpesvirus 1 (HHV-1) infection,
DE occurring in only a small minority of HHV-1 infected individuals. It
DE is characterized by hemorrhagic necrosis of parts of the temporal and
DE frontal lobes. Onset is over several days and involves fever,
DE headache, seizures, stupor, and often coma, frequently with a fatal
DE outcome.
SY Encephalopathy, acute, infection-induced, 7.
SY Herpes simplex encephalitis 7.
SY HSE7.
SY Infection-induced acute encephalopathy 7.
DR MIM; 616532; phenotype.
DR MedGen; C4225294.
DR MeSH; D020803.
//
ID Encephalopathy, acute, infection-induced, 8, herpes-specific.
AC DI-05212
AR IIAE8.
DE A rare, often fatal complication of herpes simplex infection, caused
DE by virus spreading in the central nervous system. Disease
DE manifestations include low-grade fever, severe headache, nausea,
DE vomiting, and lethargy. Neurological features include confusion, acute
DE memory disturbances, disorientation, behavioral changes, hemiparesis
DE and seizures.
SY Herpes simplex encephalitis 6.
DR MIM; 617900; phenotype.
DR MedGen; CN865669.
DR MeSH; D018792.
//
ID Encephalopathy, acute, infection-induced, 9.
AC DI-05581
AR IIAE9.
DE An autosomal recessive disorder characterized by infancy-onset of
DE episodic neurodevelopmental regression in association with infection-
DE induced febrile illness. Clinical features include poor overall
DE growth, seizures, myoclonic jerks, microcephaly, ataxia, and
DE cerebellar atrophy.
DR MIM; 618426; phenotype.
DR MedGen; CN260095.
DR MeSH; D004684.
//
ID Encephalopathy, familial, with neuroserpin inclusion bodies.
AC DI-01567
AR FENIB.
DE A neurodegenerative disease clinically characterized by dementia.
DE Additional features include intellectual decline, psychic seizures,
DE progressive myoclonic epilepsy, and cerebral atrophy. Histologically,
DE it is characterized by the presence of eosinophilic inclusion bodies
DE (called Collins bodies) throughout the deeper layers of the cerebral
DE cortex, leading to neuronal death.
SY Familial encephalopathy with Collins bodies.
DR MIM; 604218; phenotype.
DR MedGen; C1858680.
DR MeSH; D020271.
KW KW-0523:Neurodegeneration.
//
ID Encephalopathy, neonatal severe, due to MECP2 mutations.
AC DI-02038
AR ENS-MECP2.
DE A neurodevelopmental disorder characterized by severe neonatal
DE encephalopathy, developmental delay, intellectual disability,
DE microcephaly, seizures. Additional features include respiratory
DE insufficiency and central hypoventilation, gastroesophageal reflux,
DE axial hypotonia, hyperreflexia and dyskinetic movements.
DR MIM; 300673; phenotype.
DR MedGen; C1968556.
DR MeSH; D001927.
//
ID Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities.
AC DI-05082
AR NELABA.
DE An autosomal recessive disorder characterized by severe encephalopathy
DE with neonatal onset, metabolic features including lactic acidosis,
DE little or no psychomotor development, and brain abnormalities
DE including cerebral atrophy, cysts, and white matter abnormalities.
SY Lipoyltransferase 2 deficiency.
SY LIPT2D.
DR MIM; 617668; phenotype.
DR MedGen; CN469328.
DR MeSH; D020739.
//
ID Encephalopathy, progressive, early-onset, with brain atrophy and spasticity.
AC DI-05100
AR PEBAS.
DE An autosomal recessive, progressive encephalopathy characterized by
DE central nervous system atrophy and dysfunction, spasticity,
DE microcephaly, global developmental delay, and hearing loss.
DR MIM; 617669; phenotype.
DR MedGen; CN474476.
DR MeSH; D001927.
KW KW-0209:Deafness.
//
ID Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum.
AC DI-04876
AR PEBAT.
DE An autosomal recessive disease with neurodevelopmental and
DE neurodegenerative features. PEBAT is characterized by early-onset
DE cortical atrophy, hypomyelination, microcephaly, thin corpus callosum,
DE delayed psychomotor development, developmental regression,
DE intellectual disability, seizures, optic atrophy, muscle weakness and
DE atrophy, spastic quadriplegia, and respiratory insufficiency due to
DE hypotonia.
DR MIM; 617193; phenotype.
DR MedGen; CN239091.
DR MeSH; D020271.
KW KW-0523:Neurodegeneration.
//
ID Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 1.
AC DI-04879
AR PEBEL1.
DE An autosomal recessive severe neurometabolic disorder characterized by
DE severe leukoencephalopathy usually associated with a trivial febrile
DE illness. Affected infants tend to show normal early development
DE followed by acute psychomotor regression with ataxia, hypotonia,
DE respiratory insufficiency, and seizures. Disease course is rapidly
DE progressive, leading to coma, global brain atrophy, and death in the
DE first years of life. Brain imaging shows multiple abnormalities,
DE including brain edema and signal abnormalities in the cortical and
DE subcortical regions.
DR MIM; 617186; phenotype.
DR MedGen; CN239055.
DR MeSH; D020271.
KW KW-0523:Neurodegeneration.
//
ID Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2.
AC DI-05478
AR PEBEL2.
DE An autosomal recessive severe neurometabolic disorder characterized by
DE severe leukoencephalopathy usually associated with a trivial febrile
DE illness. Affected infants tend to show normal early development
DE followed by acute psychomotor regression with ataxia, hypotonia,
DE respiratory insufficiency, and seizures. Disease course is rapidly
DE progressive, leading to coma, global brain atrophy, and death in the
DE first years of life. Brain imaging shows multiple abnormalities,
DE including brain edema and signal abnormalities in the cortical and
DE subcortical regions.
DR MIM; 618321; phenotype.
DR MedGen; CN258203.
DR MeSH; D020271.
KW KW-0523:Neurodegeneration.
//
ID Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis.
AC DI-05486
AR PEERB.
DE An autosomal recessive disease characterized by progressive
DE encephalopathy exacerbated by febrile illness and associated with
DE severe neurodevelopmental delay, episodes of rhabdomyolysis,
DE developmental regression, epilepsy and tetraplegia.
DR MIM; 618331; phenotype.
DR MedGen; CN258216.
DR MeSH; D004827.
DR MeSH; D012206.
KW KW-0887:Epilepsy.
//
ID Encephalopathy, progressive, with amyotrophy and optic atrophy.
AC DI-04873
AR PEAMO.
DE An autosomal recessive, progressive, neurodegenerative encephalopathy
DE with onset in infancy. Affected individuals manifest delayed
DE psychomotor development, severe hypotonia, motor regression, spinal
DE muscular atrophy, distal amyotrophy and weakness of all limbs, and
DE intellectual disability of variable severity. Additional features
DE include optic atrophy, thin corpus callosum, and cerebellar atrophy.
DR MIM; 617207; phenotype.
DR MedGen; CN239146.
DR MeSH; D020271.
KW KW-0523:Neurodegeneration.
//
ID Encephalopathy, progressive, with or without lipodystrophy.
AC DI-04174
AR PELD.
DE A neurodegenerative disease characterized by developmental regression
DE of motor and cognitive skills in the first years of life, often
DE leading to death in the first decade, hyperactive behavior, seizures,
DE tremor and ataxic gait. Patients may show a mild or typical
DE lipodystrophic appearance.
DR MIM; 615924; phenotype.
DR MedGen; CN207619.
DR MeSH; D020271.
KW KW-0523:Neurodegeneration.
//
ID Enchondromatosis multiple.
AC DI-01524
AR ENCHOM.
DE A condition characterized by multiple formation of enchondromas,
DE benign neoplasms derived from mesodermal cells that form cartilage.
DE Enchondromas remain within the substance of a cartilage or bone.
DE Clinical problems caused by enchondromas include skeletal deformity
DE and the potential for malignant change to osteosarcoma.
SY Maffucci disease.
SY Ollier disease.
SY Osteochondromatosis.
DR MIM; 166000; phenotype.
DR MedGen; C0013366.
DR MedGen; C0014084.
DR MedGen; C0206641.
DR MedGen; C3463923.
DR MeSH; D018210.
//
ID Endocrine-cerebroosteodysplasia.
AC DI-01525
AR ECO.
DE Previously unidentified neonatal lethal recessive disorder with
DE multiple anomalies involving the endocrine, cerebral, and skeletal
DE systems.
DR MIM; 612651; phenotype.
DR MedGen; C2675227.
//
ID Endometrial cancer.
AC DI-01526
AR ENDMC.
DE A malignancy of endometrium, the mucous lining of the uterus. Most
DE endometrial cancers are adenocarcinomas, cancers that begin in cells
DE that make and release mucus and other fluids.
DR MIM; 608089; phenotype.
DR MedGen; C0476089.
DR MeSH; D016889.
//
ID Endosteal hyperostosis, Worth type.
AC DI-00450
AR WENHY.
DE An autosomal dominant sclerosing bone dysplasia clinically
DE characterized by elongation of the mandible, increased gonial angle,
DE flattened forehead, and the presence of a slowly enlarging osseous
DE prominence of the hard palate (torus palatinus). Serum calcium,
DE phosphorus and alkaline phosphatase levels are normal. Radiologically,
DE it is characterized by early thickening of the endosteum of long
DE bones, the skull and of the mandible. With advancing age, the
DE trabeculae of the metaphysis become thickened. WENHY becomes
DE clinically and radiologically evident by adolescence, does not cause
DE deformity except in the skull and mandible, and is not associated with
DE bone pain or fracture. Affected patients have normal height,
DE proportion, intelligence and longevity.
SY Endosteal hyperostosis autosomal dominant.
SY Hyperostosis corticalis generalisata benign form of Worth with torus palatinus.
SY Osteosclerosis autosomal dominant.
SY Worth syndrome.
DR MIM; 144750; phenotype.
DR MedGen; C0432273.
DR MeSH; D010009.
//
ID ENDOVE syndrome, limb-brain type.
AC DI-06037
AR ENDOVESLB.
DE An autosomal recessive disorder characterized by marked mesomelic
DE shortening of the lower limbs, severe hypoplasia of the tibia and
DE fibula, absent talus, and rudimentary and short foot bones. Hands show
DE short and malformed fingers with a missing digit, and nails are absent
DE on some fingers. Affected individuals manifest neurologic symptoms
DE including seizures and generalized hypotonia. Brain imaging reveals
DE absence of the cerebellum and hypoplasia of the brain stem.
SY Mesomelia of lower extremities with hand, foot, and brain anomalies.
SY MLEHFB.
DR MIM; 619218; phenotype.
DR MedGen; CN295792.
DR MeSH; D001848.
DR MeSH; D001927.
KW KW-0242:Dwarfism.
//
ID ENDOVE syndrome, limb-only type.
AC DI-06036
AR ENDOVESL.
DE An autosomal recessive disorder characterized by severe shortening and
DE deformation of the legs and feet, 3/4 syndactyly of the hands, and
DE toenails partially displaced to plantar surface. Radiographs show
DE normal femora but severely shortened tibiae, triangular fibulae and
DE malformed or absent bones in the feet. In addition, genitourinary
DE anomalies have been observed.
SY Mesomelia of lower extremities with hand and foot anomalies.
SY MLEHF.
DR MIM; 619217; phenotype.
DR MedGen; CN295791.
DR MeSH; D001848.
DR MeSH; D013576.
KW KW-0242:Dwarfism.
//
ID Enhanced S cone syndrome.
AC DI-01527
AR ESCS.
DE Autosomal recessive retinopathy in which patients have increased
DE sensitivity to blue light; perception of blue light is mediated by
DE what is normally the least populous cone photoreceptor subtype, the S
DE (short wavelength, blue) cones. ESCS is also associated with visual
DE loss, with night blindness occurring from early in life, varying
DE degrees of L (long, red)- and M (middle, green)-cone vision, and
DE retinal degeneration.
DR MIM; 268100; phenotype.
DR MedGen; C0339541.
DR MedGen; C1849394.
//
ID Enterokinase deficiency.
AC DI-01528
AR ENTKD.
DE Life-threatening intestinal malabsorption disorder characterized by
DE diarrhea and failure to thrive.
SY Enteropeptidase deficiency.
DR MIM; 226200; phenotype.
DR MedGen; C0268416.
//
ID Eosinophil peroxidase deficiency.
AC DI-01529
AR EPXD.
DE A rare abnormality without clinical symptoms characterized by
DE decreased or absent peroxidase activity and decreased volume of the
DE granule matrix in eosinophils.
SY Partial eosinophil peroxidase deficiency.
SY Peroxidase and phospholipid deficiency in eosinophils.
SY Presentey anomaly.
DR MIM; 261500; phenotype.
DR MedGen; C1850000.
DR MeSH; D007960.
//
ID Epidermodysplasia verruciformis 1.
AC DI-01531
AR EV1.
DE A form of epidermodysplasia verruciformis, a rare genodermatosis
DE associated with a high risk of skin carcinoma that results from an
DE abnormal susceptibility to infection by specific human
DE papillomaviruses, including the oncogenic HPV5. Infection leads to the
DE early development of disseminated flat wart-like and pityriasis
DE versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and
DE invasive squamous cell carcinomas develop in about half of the
DE patients, mainly on sun-exposed skin areas. EV1 inheritance is
DE autosomal recessive.
DR MIM; 226400; phenotype.
DR MedGen; C0014522.
DR MeSH; D004819.
//
ID Epidermodysplasia verruciformis 2.
AC DI-05436
AR EV2.
DE A form of epidermodysplasia verruciformis, a rare genodermatosis
DE associated with a high risk of skin carcinoma that results from an
DE abnormal susceptibility to infection by specific human
DE papillomaviruses, including the oncogenic HPV5. Infection leads to the
DE early development of disseminated flat wart-like and pityriasis
DE versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and
DE invasive squamous cell carcinomas develop in about half of the
DE patients, mainly on sun-exposed skin areas. EV2 inheritance is
DE autosomal recessive.
DR MIM; 618231; phenotype.
DR MedGen; CN257497.
DR MeSH; D004819.
//
ID Epidermodysplasia verruciformis 3.
AC DI-05446
AR EV3.
DE A form of epidermodysplasia verruciformis, a rare genodermatosis
DE associated with a high risk of skin carcinoma that results from an
DE abnormal susceptibility to infection by specific human
DE papillomaviruses, including the oncogenic HPV5. Infection leads to the
DE early development of disseminated flat wart-like and pityriasis
DE versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and
DE invasive squamous cell carcinomas develop in about half of the
DE patients, mainly on sun-exposed skin areas. EV3 inheritance is
DE autosomal recessive.
DR MIM; 618267; phenotype.
DR MedGen; CN257949.
DR MeSH; D004819.
//
ID Epidermodysplasia verruciformis 4.
AC DI-05470
AR EV4.
DE A form of epidermodysplasia verruciformis, a rare genodermatosis
DE associated with a high risk of skin carcinoma that results from an
DE abnormal susceptibility to infection by specific human
DE papillomaviruses, including the oncogenic HPV5. Infection leads to the
DE early development of disseminated flat wart-like and pityriasis
DE versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and
DE invasive squamous cell carcinomas develop in about half of the
DE patients, mainly on sun-exposed skin areas. EV4 patients have
DE decreased number of naive T cells, increased memory and effector T
DE cells, and impaired T-cell receptor signaling. EV4 inheritance is
DE autosomal recessive.
DR MIM; 618307; phenotype.
DR MedGen; CN258177.
DR MeSH; D004819.
//
ID Epidermodysplasia verruciformis 5.
AC DI-05471
AR EV5.
DE A form of epidermodysplasia verruciformis, a rare genodermatosis
DE associated with a high risk of skin carcinoma that results from an
DE abnormal susceptibility to infection by specific human
DE papillomaviruses, including the oncogenic HPV5. Infection leads to the
DE early development of disseminated flat wart-like and pityriasis
DE versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and
DE invasive squamous cell carcinomas develop in about half of the
DE patients, mainly on sun-exposed skin areas. EV5 patients shows T-cell
DE lymphopenia, particularly affecting CD4+ T cells. EV5 inheritance is
DE autosomal recessive.
DR MIM; 618309; phenotype.
DR MedGen; CN258178.
DR MeSH; D004819.
//
ID Epidermolysis bullosa dystrophica, autosomal dominant.
AC DI-00451
AR DDEB.
DE A group of autosomal dominant blistering skin diseases characterized
DE by tissue separation which occurs below the dermal-epidermal basement
DE membrane at the level of the anchoring fibrils. Various clinical types
DE with different severity are recognized, ranging from severe mutilating
DE forms to mild forms with limited and localized scarring, and less
DE frequent extracutaneous manifestations.
SY Albopapuloid dominant dystrophic epidermolysis bullosa.
SY Autosomal dominant dystrophic epidermolysis bullosa.
SY EBDCT.
SY EBDD.
SY Epidermolysis bullosa dystrophica, Cockayne-Touraine type.
SY Epidermolysis bullosa dystrophica, Pasini type.
DR MIM; 131750; phenotype.
DR MedGen; C0432322.
DR MeSH; D016108.
KW KW-0263:Epidermolysis bullosa.
//
ID Epidermolysis bullosa dystrophica, autosomal recessive.
AC DI-03090
AR RDEB.
DE A group of autosomal recessive blistering skin diseases characterized
DE by tissue separation which occurs below the dermal-epidermal basement
DE membrane at the level of the anchoring fibrils. Various clinical types
DE with different severity are recognized, ranging from severe mutilating
DE forms, such as epidermolysis bullosa dystrophica Hallopeau-Siemens
DE type, to mild forms with limited localized scarring and less frequent
DE extracutaneous manifestations. Mild forms include epidermolysis
DE bullosa mitis and epidermolysis bullosa localisata.
SY Autosomal recessive dystrophic epidermolysis bullosa.
SY EBR1.
SY Epidermolysis bullosa dystrophica, generalized severe, autosomal recessive.
SY Epidermolysis bullosa dystrophica, Hallopeau-Siemens type.
DR MIM; 226600; phenotype.
DR MedGen; C0079474.
DR MedGen; C2673611.
DR MedGen; C2673612.
DR MeSH; D016108.
KW KW-0263:Epidermolysis bullosa.
//
ID Epidermolysis bullosa dystrophica, Bart type.
AC DI-00452
AR B-DEB.
DE An autosomal dominant form of dystrophic epidermolysis bullosa
DE characterized by congenital localized absence of skin, skin fragility
DE and deformity of nails.
SY Epidermolysis bullosa with congenital localized absence of skin and deformity of nails.
DR MIM; 132000; phenotype.
DR MedGen; C0268371.
DR MeSH; D016108.
KW KW-0263:Epidermolysis bullosa.
//
ID Epidermolysis bullosa dystrophica, pretibial type.
AC DI-00455
AR PR-DEB.
DE A form of dystrophic epidermolysis bullosa characterized by pretibial
DE blisters that develop into prurigo-like hyperkeratotic lesions. It
DE predominantly affects the pretibial areas, sparing the knees and other
DE parts of the skin. Other clinical features include nail dystrophy,
DE albopapuloid skin lesions, and hypertrophic scars without pretibial
DE predominance. The phenotype shows considerable interindividual
DE variability. Inheritance is autosomal dominant.
DR MIM; 131850; phenotype.
DR MedGen; C0432321.
DR MeSH; D016108.
KW KW-0263:Epidermolysis bullosa.
//
ID Epidermolysis bullosa dystrophica, with subcorneal cleavage.
AC DI-00456
AR EBDSC.
DE A bullous skin disorder with variable sized clefts just beneath the
DE level of the stratum corneum. Clinical features include blisters,
DE milia, atrophic scarring, nail dystrophy, and oral and conjunctival
DE involvement, as seen in dystrophic epidermolysis bullosa.
DR MIM; 131750; phenotype.
DR MedGen; C2675683.
DR MeSH; D016108.
KW KW-0263:Epidermolysis bullosa.
//
ID Epidermolysis bullosa letalis, with pyloric atresia.
AC DI-00458
AR EB-PA.
DE An autosomal recessive, frequently lethal, epidermolysis bullosa with
DE variable involvement of skin, nails, mucosa, and with variable effects
DE on the digestive system. It is characterized by mucocutaneous
DE fragility, aplasia cutis congenita, and gastrointestinal atresia,
DE which most commonly affects the pylorus. Pyloric atresia is a primary
DE manifestation rather than a scarring process secondary to
DE epidermolysis bullosa.
SY Aplasia cutis congenita with gastrointestinal atresia.
SY Carmi syndrome.
SY Junctional epidermolysis bullosa with pyloric atresia.
SY PA-JEB.
DR MIM; 226730; phenotype.
DR MedGen; C1856934.
DR MeSH; D016109.
KW KW-0263:Epidermolysis bullosa.
//
ID Epidermolysis bullosa pruriginosa.
AC DI-00460
AR EBP.
DE A distinct clinical subtype of epidermolysis bullosa dystrophica. It
DE is characterized by skin fragility, blistering, scar formation,
DE intense pruritus and excoriated prurigo nodules. Onset is in early
DE childhood, but in some cases is delayed until the second or third
DE decade of life. Inheritance can be autosomal dominant or recessive.
DR MIM; 604129; phenotype.
DR MedGen; C1275114.
DR MeSH; D016108.
KW KW-0263:Epidermolysis bullosa.
//
ID Epidermolysis bullosa simplex 2A, generalized severe.
AC DI-06251
AR EBS2A.
DE A form of epidermolysis bullosa, a genodermatosis characterized by
DE recurrent blistering and cleavage within basal keratinocytes,
DE fragility of the skin and mucosal epithelia, and erosions caused by
DE minor mechanical trauma. EBS2A is an autosomal dominant, severe form
DE characterized by extensive intra-epidermal blistering from the time of
DE birth with herpetiform marginal spreading and central healing. Oral
DE mucosal involvement, nail dystrophy, onychogryposis, formation of
DE milia, and palmoplantar hyperkeratosis are common features.
SY Epidermolysis bullosa simplex 2a, Dowling-Meara type.
DR MIM; 619555; phenotype.
DR MedGen; CN301077.
DR MeSH; D016110.
KW KW-0263:Epidermolysis bullosa.
//
ID Epidermolysis bullosa simplex 2B, generalized intermediate.
AC DI-06252
AR EBS2B.
DE A form of epidermolysis bullosa, a genodermatosis characterized by
DE recurrent blistering and cleavage within basal keratinocytes,
DE fragility of the skin and mucosal epithelia, and erosions caused by
DE minor mechanical trauma. EBS2B is an autosomal dominant form
DE characterized by generalized blistering manifesting at birth. The
DE tendency to blistering diminishes in adolescence, when it may become
DE localized to hands and feet.
SY Epidermolysis bullosa simplex 2B, Koebner type.
DR MIM; 619588; phenotype.
DR MedGen; CN301100.
DR MeSH; D016110.
KW KW-0263:Epidermolysis bullosa.
//
ID Epidermolysis bullosa simplex 2C, localized.
AC DI-06253
AR EBS2C.
DE A form of epidermolysis bullosa, a genodermatosis characterized by
DE recurrent blistering and cleavage within basal keratinocytes,
DE fragility of the skin and mucosal epithelia, and erosions caused by
DE minor mechanical trauma. EBS2C is an autosomal dominant form with
DE intra-epidermal blistering after minor trauma mainly restricted to
DE hands and feet beginning in infancy. Nails may be thick and
DE dystrophic.
SY Epidermolysis bullosa simplex 2C, Weber-Cockayne type.
DR MIM; 619594; phenotype.
DR MedGen; CN301101.
DR MeSH; D016110.
KW KW-0263:Epidermolysis bullosa.
//
ID Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive.
AC DI-06254
AR EBS2D.
DE A form of epidermolysis bullosa, a genodermatosis characterized by
DE recurrent blistering and cleavage within basal keratinocytes,
DE fragility of the skin and mucosal epithelia, and erosions caused by
DE minor mechanical trauma. EBS2D is an autosomal recessive form
DE characterized by widespread intra-epidermal skin blistering and
DE erosions from birth. Death may occur in the neonatal period.
DR MIM; 619599; phenotype.
DR MedGen; CN301099.
DR MeSH; D016110.
KW KW-0263:Epidermolysis bullosa.
//
ID Epidermolysis bullosa simplex 2E, with migratory circinate erythema.
AC DI-00466
AR EBS2E.
DE A form of epidermolysis bullosa, a genodermatosis characterized by
DE recurrent blistering and cleavage within basal keratinocytes,
DE fragility of the skin and mucosal epithelia, and erosions caused by
DE minor mechanical trauma. EBS2E is an autosomal dominant form in which
DE multiple vesicles are present from birth onward and acquire over time
DE a typical migratory circinate pattern on an erythematous background.
DE Postinflammatory hyperpigmentation develops gradually and may have a
DE mottled pattern.
SY Epidermolysis bullosa simplex, with migratory circinate erythema.
DR MIM; 609352; phenotype.
DR MedGen; C1836284.
DR MeSH; D016110.
KW KW-0263:Epidermolysis bullosa.
//
ID Epidermolysis bullosa simplex 2F, with mottled pigmentation.
AC DI-00467
AR EBS2F.
DE A form of epidermolysis bullosa, a genodermatosis characterized by
DE recurrent blistering and cleavage within basal keratinocytes,
DE fragility of the skin and mucosal epithelia, and erosions caused by
DE minor mechanical trauma. EBS2F is an autosomal dominant form
DE characterized by generalized skin blistering of intermediate severity
DE beginning at birth, with mottled or reticulate pigmentation developing
DE gradually. Focal keratoses of palms and soles and dystrophic,
DE thickened nails develop over time.
SY EBSMP.
SY Epidermolysis bullosa simplex, with mottled pigmentation.
SY Speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering.
DR MIM; 131960; phenotype.
DR MedGen; C0432316.
DR MeSH; D016110.
KW KW-0263:Epidermolysis bullosa.
//
ID Epidermolysis bullosa simplex with nail dystrophy.
AC DI-04492
AR EBSND.
DE A form of epidermolysis bullosa, a dermatologic disorder characterized
DE by skin blistering. EBSND patients also manifest nail dystrophy.
DR MIM; 616487; phenotype.
DR MedGen; CN231724.
DR MeSH; D016110.
KW KW-0263:Epidermolysis bullosa.
//
ID Epidermolysis bullosa simplex with pyloric atresia.
AC DI-01532
AR EBS-PA.
DE Autosomal recessive genodermatosis characterized by severe skin
DE blistering at birth and congenital pyloric atresia. Death usually
DE occurs in infancy. This disorder is allelic to MD-EBS.
DR MIM; 612138; phenotype.
DR MedGen; C2677349.
//
ID Epidermolysis bullosa simplex, autosomal recessive 1.
AC DI-00461
AR EBSB1.
DE A form of epidermolysis bullosa, a genodermatosis characterized by
DE recurrent blistering and cleavage within basal keratinocytes,
DE fragility of the skin and mucosal epithelia, and erosions caused by
DE minor mechanical trauma.
DR MIM; 601001; phenotype.
DR MedGen; C1832926.
DR MeSH; D016110.
KW KW-0263:Epidermolysis bullosa.
//
ID Epidermolysis bullosa simplex, autosomal recessive 2.
AC DI-03906
AR EBSB2.
DE A form of epidermolysis bullosa, a dermatologic disorder characterized
DE by localized blistering on the dorsal, lateral and plantar surfaces of
DE the feet. EBSB2 is characterized by trauma-induced blistering mainly
DE occurring on the feet and ankles. Ultrastructural analysis of skin
DE biopsy shows abnormal hemidesmosomes with poorly formed inner plaques.
DR MIM; 615425; phenotype.
DR MedGen; C3809470.
DR MedGen; CN180173.
DR MeSH; D016110.
KW KW-0263:Epidermolysis bullosa.
//
ID Epidermolysis bullosa simplex, Dowling-Meara type.
AC DI-00462
AR DM-EBS.
DE A severe form of intraepidermal epidermolysis bullosa characterized by
DE generalized herpetiform blistering, milia formation, dystrophic nails,
DE and mucous membrane involvement.
SY EBS-DM.
SY Epidermolysis bullosa herpetiformis, Dowling-Meara type.
SY Epidermolysis bullosa simplex, generalized severe.
DR MIM; 131760; phenotype.
DR MedGen; C0079295.
DR MeSH; D016110.
KW KW-0263:Epidermolysis bullosa.
//
ID Epidermolysis bullosa simplex, generalized, with scarring and hair loss.
AC DI-04933
AR EBSSH.
DE A form of epidermolysis bullosa, a group of mechano-bullous disorders
DE characterized by structural skin fragility, recurrent blister
DE formation and erosion of the skin and mucous membranes occurring
DE spontaneously or after mild trauma. Epidermolysis bullosa simplex is
DE characterized by intraepidermal tissue separation that occurs within
DE the basal keratinocytes at the bottom layer of epidermis. EBSSH is an
DE autosomal dominant epidermolysis bullosa simplex, presenting at birth
DE with extensive skin defects on the extremities, leaving behind
DE hypopigmentation and atrophy with a whirled pattern. Cutaneous
DE fragility and generalized blistering persist during childhood and
DE decrease in adulthood. Adult patients have dyspigmentation and atrophy
DE of the skin, scars, follicular atrophoderma, sparse body hair,
DE progressive diffuse alopecia of the scalp, diffuse palmoplantar
DE keratoderma, and nail changes.
DR MIM; 617294; phenotype.
DR MedGen; CN239946.
DR MeSH; D016110.
KW KW-0263:Epidermolysis bullosa.
//
ID Epidermolysis bullosa simplex, Koebner type.
AC DI-00463
AR K-EBS.
DE A form of intraepidermal epidermolysis bullosa characterized by
DE generalized skin blistering. The phenotype is not fundamentally
DE distinct from the Dowling-Meara type, although it is less severe.
SY EBS2.
SY EBS generalized.
SY Epidermolysis bullosa simplex 2.
DR MIM; 131900; phenotype.
DR MedGen; C0079299.
DR MeSH; D016110.
KW KW-0263:Epidermolysis bullosa.
//
ID Epidermolysis bullosa simplex, Ogna type.
AC DI-00464
AR O-EBS.
DE A form of intraepidermal epidermolysis bullosa characterized by
DE generalized skin bruising, skin fragility with non-scarring blistering
DE and small hemorrhagic blisters on hands. At the ultrastructural level,
DE it is differentiated from classical cases of K-EBS, WC-EBS and DM-EBS,
DE by the occurrence of blisters originating in basal cells above
DE hemidesmosomes, and abnormal hemidesmosome intracellular attachment
DE plates.
SY EBS1.
SY EBSO.
SY Epidermolysis bullosa simplex 1.
DR MIM; 131950; phenotype.
DR MedGen; C0432317.
DR MeSH; D016110.
KW KW-0263:Epidermolysis bullosa.
//
ID Epidermolysis bullosa simplex, Weber-Cockayne type.
AC DI-00465
AR WC-EBS.
DE A form of intraepidermal epidermolysis bullosa characterized by
DE blistering limited to palmar and plantar areas of the skin.
SY EBS, acral form.
SY Epidermolysis bullosa of hands and feet.
SY Epidermolysis bullosa simplex, localized.
DR MIM; 131800; phenotype.
DR MedGen; C0080333.
DR MeSH; D016110.
KW KW-0263:Epidermolysis bullosa.
//
ID Epidermolysis bullosa simplex, with muscular dystrophy.
AC DI-00468
AR MD-EBS.
DE A form of epidermolysis bullosa characterized by the association of
DE blister formation at the level of the hemidesmosome with late-onset
DE muscular dystrophy.
SY Epidermolysis bullosa simplex and limb-girdle muscular dystrophy.
DR MIM; 226670; phenotype.
DR MedGen; C1856936.
DR MedGen; C2931072.
DR MeSH; D016110.
DR MeSH; D049288.
KW KW-0263:Epidermolysis bullosa.
//
ID Epidermolysis bullosa, junctional 2A, intermediate.
AC DI-06337
AR JEB2A.
DE A form of epidermolysis bullosa, a genodermatosis characterized by
DE recurrent blistering, fragility of the skin and mucosal epithelia, and
DE erosions caused by minor mechanical trauma. JEB2A is an autosomal
DE recessive, intermediate form in which blistering lesions occur between
DE the epidermis and the dermis at the lamina lucida level of the
DE basement membrane zone. In intermediate forms of junctional
DE epidermolysis bullosa, blistering does not lead to the formation of
DE chronic granulation tissue and does not affect the lifespan of
DE affected individuals. Nail dystrophy and dental enamel defects are
DE present. Scarring or non-scarring alopecia and diffuse hair loss may
DE occur.
SY Epidermolysis bullosa, junctional 2A, generalized intermediate.
SY Epidermolysis bullosa, junctional 2A, non-Herlitz type.
DR MIM; 619783; phenotype.
DR MedGen; CN307699.
DR MeSH; D016109.
KW KW-0263:Epidermolysis bullosa.
//
ID Epidermolysis bullosa, junctional 2B, severe.
AC DI-06338
AR JEB2B.
DE A form of epidermolysis bullosa, a genodermatosis characterized by
DE recurrent blistering, fragility of the skin and mucosal epithelia, and
DE erosions caused by minor mechanical trauma. JEB2B is an autosomal
DE recessive form in which blistering lesions occur between the epidermis
DE and the dermis at the lamina lucida level of the basement membrane
DE zone. It belongs to the severe spectrum of junctional epidermolysis
DE bullosa (previously known as generalized severe or Herlitz type),
DE characterized by onset of blistering over large regions of the body at
DE birth or in early infancy. Blistering also affects the mucous
DE membranes, such as the moist lining of the mouth and digestive tract,
DE which can make it difficult to eat and digest food. The extensive
DE blistering leads to scarring and the formation of red, bumpy patches
DE called granulation tissue. Other complications can include fusion of
DE the fingers and toes, abnormalities of the fingernails and toenails,
DE joint deformities, dental enamel defects, and alopecia. Severe,
DE junctional forms are associated with death in the first 6 to 24 months
DE of life.
SY Epidermolysis bullosa, junctional 2B, generalized severe.
SY Epidermolysis bullosa, junctional 2B, Herlitz type.
DR MIM; 619784; phenotype.
DR MedGen; CN307700.
DR MeSH; D016109.
KW KW-0263:Epidermolysis bullosa.
//
ID Epidermolysis bullosa, junctional 3A, intermediate.
AC DI-06340
AR JEB3A.
DE A form of epidermolysis bullosa, a genodermatosis characterized by
DE recurrent blistering, fragility of the skin and mucosal epithelia, and
DE erosions caused by minor mechanical trauma. JEB3A is an autosomal
DE recessive, intermediate form in which blistering lesions occur between
DE the epidermis and the dermis at the lamina lucida level of the
DE basement membrane zone. In intermediate forms of junctional
DE epidermolysis bullosa, blistering does not lead to the formation of
DE chronic granulation tissue and does not affect the lifespan of
DE affected individuals. Nail dystrophy and dental enamel defects are
DE present. Scarring or non-scarring alopecia and diffuse hair loss may
DE occur.
SY Epidermolysis bullosa, junctional 3A, generalized intermediate.
SY Epidermolysis bullosa, junctional 3A, non-Herlitz type.
DR MIM; 619785; phenotype.
DR MedGen; CN307701.
DR MeSH; D016109.
KW KW-0263:Epidermolysis bullosa.
//
ID Epidermolysis bullosa, junctional 3B, severe.
AC DI-06339
AR JEB3B.
DE A form of epidermolysis bullosa, a genodermatosis characterized by
DE recurrent blistering, fragility of the skin and mucosal epithelia, and
DE erosions caused by minor mechanical trauma. JEB3B is an autosomal
DE recessive form in which blistering lesions occur between the epidermis
DE and the dermis at the lamina lucida level of the basement membrane
DE zone. It belongs to the severe spectrum of junctional epidermolysis
DE bullosa (previously known as generalized severe or Herlitz type),
DE characterized by onset of blistering over large regions of the body at
DE birth or in early infancy. Blistering also affects the mucous
DE membranes, such as the moist lining of the mouth and digestive tract,
DE which can make it difficult to eat and digest food. The extensive
DE blistering leads to scarring and the formation of red, bumpy patches
DE called granulation tissue. Other complications can include fusion of
DE the fingers and toes, abnormalities of the fingernails and toenails,
DE joint deformities, dental enamel defects, and alopecia. Severe,
DE junctional forms are associated with death in the first 6 to 24 months
DE of life.
SY Epidermolysis bullosa, junctional 3B, generalized severe.
SY Epidermolysis bullosa, junctional 3B, Herlitz type.
DR MIM; 619786; phenotype.
DR MedGen; CN307702.
DR MeSH; D016109.
KW KW-0263:Epidermolysis bullosa.
//
ID Epidermolysis bullosa, junctional 4, intermediate.
AC DI-06341
AR JEB4.
DE A form of epidermolysis bullosa, a genodermatosis characterized by
DE recurrent blistering, fragility of the skin and mucosal epithelia, and
DE erosions caused by minor mechanical trauma. JEB4 is an autosomal
DE recessive, intermediate form in which blistering lesions occur between
DE the epidermis and the dermis at the lamina lucida level of the
DE basement membrane zone. In intermediate forms of junctional
DE epidermolysis bullosa, blistering does not lead to the formation of
DE chronic granulation tissue and does not affect the lifespan of
DE affected individuals. Nail dystrophy and dental enamel defects are
DE present. Scarring or non-scarring alopecia and diffuse hair loss may
DE occur. JEB4 patients manifest blisters at birth or shortly afterward.
DE Blisters may heal with atrophic scarring and variable hypo- or
DE hyperpigmentation. Oral mucosa may be involved.
SY Epidermolysis bullosa, generalized atrophic benign.
SY Epidermolysis bullosa, junctional, localisata variant.
SY Epidermolysis bullosa, junctional 4, non-Herlitz type.
SY GABEB.
DR MIM; 619787; phenotype.
DR MedGen; CN307703.
DR MeSH; D016109.
KW KW-0263:Epidermolysis bullosa.
//
ID Epidermolysis bullosa, junctional 5A, intermediate.
AC DI-06342
AR JEB5A.
DE A form of epidermolysis bullosa, a genodermatosis characterized by
DE recurrent blistering, fragility of the skin and mucosal epithelia, and
DE erosions caused by minor mechanical trauma. JEB5A is an autosomal
DE recessive, intermediate form in which blistering lesions occur between
DE the epidermis and the dermis at the lamina lucida level of the
DE basement membrane zone. In intermediate forms of junctional
DE epidermolysis bullosa, blistering does not lead to the formation of
DE chronic granulation tissue and does not affect the lifespan of
DE affected individuals. Nail dystrophy and dental enamel defects are
DE present. Scarring or non-scarring alopecia and diffuse hair loss may
DE occur.
SY Epidermolysis bullosa, junctional 5A, generalized intermediate.
SY Epidermolysis bullosa, junctional 5A, non-Herlitz type.
DR MIM; 619816; phenotype.
DR MedGen; CN307704.
DR MeSH; D016109.
KW KW-0263:Epidermolysis bullosa.
//
ID Epidermolysis bullosa, junctional 6, with pyloric atresia.
AC DI-06343
AR JEB6.
DE A form of epidermolysis bullosa, a genodermatosis characterized by
DE recurrent blistering, fragility of the skin and mucosal epithelia, and
DE erosions caused by minor mechanical trauma. JEB6 is an autosomal
DE recessive form in which blistering lesions occur between the epidermis
DE and the dermis at the lamina lucida level of the basement membrane
DE zone. Clinical manifestations include severe blistering, atrophic
DE scarring, nail dystrophy, and pyloric atresia. Congenital absence of
DE skin (aplasia cutis congenita) is common, and ear anomalies are also
DE relatively common. Disease course is usually severe and often lethal
DE in the neonatal period.
DR MIM; 619817; phenotype.
DR MedGen; CN307705.
DR MeSH; D016109.
KW KW-0263:Epidermolysis bullosa.
//
ID Epidermolysis bullosa, junctional, Herlitz type.
AC DI-00457
AR H-JEB.
DE An infantile and lethal form of junctional epidermolysis bullosa, a
DE group of blistering skin diseases characterized by tissue separation
DE which occurs within the dermo-epidermal basement In the Herlitz type,
DE death occurs usually within the first six months of life.
DE Occasionally, children survive to teens. It is marked by bullous
DE lesions at birth and extensive denudation of skin and mucous membranes
DE that may be hemorrhagic.
SY Epidermolysis letalis.
SY Junctional epidermolysis bullosa gravis.
SY Junctional epidermolysis bullosa Herlitz-Pearson type.
DR MIM; 226700; phenotype.
DR MedGen; C0079683.
DR MeSH; D016109.
KW KW-0263:Epidermolysis bullosa.
//
ID Epidermolysis bullosa, lethal acantholytic.
AC DI-00459
AR EBLA.
DE A form of epidermolysis bullosa characterized by severe fragility of
DE skin and mucous membranes. The phenotype is lethal in the neonatal
DE period because of immense transcutaneous fluid loss. Typical features
DE include universal alopecia, neonatal teeth, and nail loss.
DE Histopathology of the skin shows suprabasal clefting and acantholysis
DE throughout the spinous layer, mimicking pemphigus.
SY LAEB.
SY Lethal acantholytic epidermolysis bullosa.
DR MIM; 609638; phenotype.
DR MedGen; C1864826.
DR MeSH; D016109.
KW KW-0263:Epidermolysis bullosa.
//
ID Epidermolysis bullosa, non-specific, autosomal recessive.
AC DI-03676
AR EBNS.
DE A skin disease characterized by blistering of skin and mucosae,
DE following minimal pressure or trauma. Various clinical types with
DE different severity are recognized, ranging from severe mutilating
DE forms to mild forms with limited and localized scarring, and less
DE frequent extracutaneous manifestations. EBNS clinical features mainly
DE comprise trauma-induced scale crusts and intermittent skin blistering.
DE Some of the crusted areas are hemorrhagic and accompanied by
DE occasional bruising. Most lesions clear over several weeks to leave
DE slightly atrophic scars and moderate post-inflammatory
DE hyperpigmentation.
DR MIM; 615028; phenotype.
DR MedGen; C3554367.
DR MedGen; CN164584.
DR MeSH; D004820.
KW KW-0263:Epidermolysis bullosa.
//
ID Epidermolytic hyperkeratosis.
AC DI-00207
AR EHK.
DE An autosomal dominant skin disorder characterized by widespread
DE blistering and an ichthyotic erythroderma at birth that persist into
DE adulthood. Histologically there is a diffuse epidermolytic
DE degeneration in the lower spinous layer of the epidermis. Within a few
DE weeks from birth, erythroderma and blister formation diminish and
DE hyperkeratoses develop.
SY BCIE.
SY BIE.
SY Bullous congenital ichthyosiform erythroderma.
SY Bullous erythroderma ichthyosiformis congenita of Brocq.
SY Bullous ichthyosiform erythroderma.
SY Epidermolytic hyperkeratosis late-onset.
DR MIM; 113800; phenotype.
DR MedGen; C0079153.
DR MedGen; C1862005.
DR MeSH; D017488.
KW KW-0977:Ichthyosis.
//
ID Epilepsy, childhood absence 2.
AC DI-00297
AR ECA2.
DE A subtype of idiopathic generalized epilepsy characterized by an onset
DE at age 6-7 years, frequent absence seizures (several per day) and
DE bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-
DE clonic seizures often develop in adolescence. Some individuals
DE manifest febrile seizures. Absence seizures may either remit or
DE persist into adulthood.
DR MIM; 607681; phenotype.
DR MedGen; C1843244.
DR MeSH; D004832.
KW KW-0887:Epilepsy.
//
ID Epilepsy, childhood absence 4.
AC DI-00299
AR ECA4.
DE A subtype of idiopathic generalized epilepsy characterized by an onset
DE at age 6-7 years, frequent absence seizures (several per day) and
DE bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-
DE clonic seizures often develop in adolescence. Absence seizures may
DE either remit or persist into adulthood.
DR MIM; 611136; phenotype.
DR MedGen; C1970160.
DR MeSH; D004832.
KW KW-0887:Epilepsy.
//
ID Epilepsy, childhood absence 5.
AC DI-00300
AR ECA5.
DE A subtype of idiopathic generalized epilepsy characterized by an onset
DE at age 6-7 years, frequent absence seizures (several per day) and
DE bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-
DE clonic seizures often develop in adolescence. Absence seizures may
DE either remit or persist into adulthood.
DR MIM; 612269; phenotype.
DR MedGen; C2677087.
DR MeSH; D004832.
KW KW-0887:Epilepsy.
//
ID Epilepsy, childhood absence 6.
AC DI-03307
AR ECA6.
DE A subtype of idiopathic generalized epilepsy characterized by an onset
DE at age 6-7 years, frequent absence seizures (several per day) and
DE bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-
DE clonic seizures often develop in adolescence. Absence seizures may
DE either remit or persist into adulthood.
DR MIM; 611942; phenotype.
DR MedGen; C2749872.
DR MeSH; D004832.
KW KW-0887:Epilepsy.
//
ID Epilepsy, early-onset, vitamin B6-dependent.
AC DI-04934
AR EPVB6D.
DE An autosomal recessive neurologic disorder characterized by seizures
DE responsive to treatment with activated vitamin B6 and/or pyridoxine.
DE Most patients show delayed psychomotor development, intellectual
DE disability and learning disability. Seizures onset is in the first
DE days or months of life.
DR MIM; 617290; phenotype.
DR MedGen; CN239943.
DR MeSH; D012640.
KW KW-0887:Epilepsy.
//
ID Epilepsy, early-onset, with or without developmental delay.
AC DI-05807
AR EPEDD.
DE An autosomal dominant neurologic disorder characterized by early onset
DE of generalized tonic-clonic seizures associated with sharp wave and
DE sharp slow wave discharges on EEG. Some EPEDD patients have normal
DE psychomotor development and normal brain imaging, whereas others may
DE show developmental delay associated with abnormalities on brain
DE imaging.
DR MIM; 618832; phenotype.
DR MedGen; CN272918.
DR MeSH; D004830.
KW KW-0887:Epilepsy.
//
ID Epilepsy, familial adult myoclonic, 1.
AC DI-05296
AR FAME1.
DE A form of familial myoclonic epilepsy, a neurologic disorder
DE characterized by cortical hand tremors, myoclonic jerks and occasional
DE generalized or focal seizures with a non-progressive or very slowly
DE progressive disease course. Usually, myoclonic tremor is the
DE presenting symptom, characterized by tremulous finger movements and
DE myoclonic jerks of the limbs increased by action and posture. In a
DE minority of patients, seizures are the presenting symptom. Some
DE patients exhibit mild cognitive impairment. FAME1 inheritance is
DE autosomal dominant.
SY BAFME1.
SY Benign adult familial myoclonic epilepsy 1.
SY Cortical myoclonic tremor with epilepsy, familial, 1.
SY FCMTE1.
DR MIM; 601068; phenotype.
DR MedGen; C1832841.
DR MeSH; D004831.
KW KW-0887:Epilepsy.
//
ID Epilepsy, familial adult myoclonic, 2.
AC DI-04469
AR FAME2.
DE A form of familial myoclonic epilepsy, a neurologic disorder
DE characterized by cortical hand tremors, myoclonic jerks and occasional
DE generalized or focal seizures with a non-progressive or very slowly
DE progressive disease course. Usually, myoclonic tremor is the
DE presenting symptom, characterized by tremulous finger movements and
DE myoclonic jerks of the limbs increased by action and posture. In a
DE minority of patients, seizures are the presenting symptom. Some
DE patients exhibit mild cognitive impairment. FAME2 inheritance is
DE autosomal dominant.
SY ADCME.
SY BAFME2.
SY Benign adult familial myoclonic epilepsy 2.
SY Cortical myoclonic tremor with epilepsy, familial, 2.
SY Cortical myoclonus and epilepsy, autosomal dominant.
SY FCMTE2.
DR MIM; 607876; phenotype.
DR MedGen; C1842852.
DR MeSH; D004831.
KW KW-0887:Epilepsy.
//
ID Epilepsy, familial adult myoclonic, 3.
AC DI-05690
AR FAME3.
DE A form of familial myoclonic epilepsy, a neurologic disorder
DE characterized by cortical hand tremors, myoclonic jerks and occasional
DE generalized or focal seizures with a non-progressive or very slowly
DE progressive disease course. Usually, myoclonic tremor is the
DE presenting symptom, characterized by tremulous finger movements and
DE myoclonic jerks of the limbs increased by action and posture. In a
DE minority of patients, seizures are the presenting symptom. Some
DE patients exhibit mild cognitive impairment. FAME3 inheritance is
DE autosomal dominant.
SY Cortical myoclonic tremor with epilepsy, familial, 3.
SY FCMTE3.
DR MIM; 613608; phenotype.
DR MedGen; C3150860.
DR MeSH; D004831.
KW KW-0887:Epilepsy.
//
ID Epilepsy, familial adult myoclonic, 4.
AC DI-05691
AR FAME4.
DE A form of familial myoclonic epilepsy, a neurologic disorder
DE characterized by cortical hand tremors, myoclonic jerks and occasional
DE generalized or focal seizures with a non-progressive or very slowly
DE progressive disease course. Usually, myoclonic tremor is the
DE presenting symptom, characterized by tremulous finger movements and
DE myoclonic jerks of the limbs increased by action and posture. In a
DE minority of patients, seizures are the presenting symptom. Some
DE patients exhibit mild cognitive impairment. FAME4 inheritance is
DE autosomal dominant.
SY Cortical myoclonic tremor with epilepsy, familial, 4.
SY FCMTE4.
DR MIM; 615127; phenotype.
DR MedGen; C3554560.
DR MeSH; D004831.
KW KW-0887:Epilepsy.
//
ID Epilepsy, familial adult myoclonic, 5.
AC DI-03870
AR FAME5.
DE A form of familial myoclonic epilepsy, a neurologic disorder
DE characterized by cortical hand tremors, myoclonic jerks and occasional
DE generalized or focal seizures with a non-progressive or very slowly
DE progressive disease course. Usually, myoclonic tremor is the
DE presenting symptom, characterized by tremulous finger movements and
DE myoclonic jerks of the limbs increased by action and posture. In a
DE minority of patients, seizures are the presenting symptom. Some
DE patients exhibit mild cognitive impairment. FAME5 is characterized by
DE onset of seizures in adolescence, followed by the development of
DE cortical myoclonic tremor later in life. Inheritance is autosomal
DE recessive.
SY Cortical myoclonic tremor with epilepsy, familial, 5.
SY Familial cortical myoclonic tremor with epilepsy 5.
SY FCMTE5.
DR MIM; 615400; phenotype.
DR MedGen; C3809374.
DR MeSH; D004831.
KW KW-0887:Epilepsy.
//
ID Epilepsy, familial adult myoclonic, 6.
AC DI-05297
AR FAME6.
DE A form of familial myoclonic epilepsy, a neurologic disorder
DE characterized by cortical hand tremors, myoclonic jerks and occasional
DE generalized or focal seizures with a non-progressive or very slowly
DE progressive disease course. Usually, myoclonic tremor is the
DE presenting symptom, characterized by tremulous finger movements and
DE myoclonic jerks of the limbs increased by action and posture. In a
DE minority of patients, seizures are the presenting symptom. Some
DE patients exhibit mild cognitive impairment. FAME6 inheritance is
DE autosomal dominant.
SY BAFME6.
SY Benign adult familial myoclonic epilepsy 6.
SY Cortical myoclonic tremor with epilepsy, familial, 6.
SY FCMTE6.
DR MIM; 618074; phenotype.
DR MedGen; CN252655.
DR MeSH; D004831.
KW KW-0887:Epilepsy.
//
ID Epilepsy, familial adult myoclonic, 7.
AC DI-05298
AR FAME7.
DE A form of familial myoclonic epilepsy, a neurologic disorder
DE characterized by cortical hand tremors, myoclonic jerks and occasional
DE generalized or focal seizures with a non-progressive or very slowly
DE progressive disease course. Usually, myoclonic tremor is the
DE presenting symptom, characterized by tremulous finger movements and
DE myoclonic jerks of the limbs increased by action and posture. In a
DE minority of patients, seizures are the presenting symptom. Some
DE patients exhibit mild cognitive impairment. FAME7 inheritance is
DE autosomal dominant.
SY BAFME7.
SY Benign adult familial myoclonic epilepsy 27.
SY Cortical myoclonic tremor with epilepsy, familial, 7.
SY FCMTE7.
DR MIM; 618075; phenotype.
DR MedGen; CN252654.
DR MeSH; D004831.
KW KW-0887:Epilepsy.
//
ID Epilepsy, familial focal, with variable foci 1.
AC DI-03794
AR FFEVF1.
DE An autosomal dominant form of epilepsy characterized by focal seizures
DE arising from different cortical regions in different family members.
DE Many patients have an aura and show automatisms during the seizures,
DE whereas others may have nocturnal seizures. There is often secondary
DE generalization. Some patients show abnormal interictal EEG, and some
DE patients may have intellectual disability or autism spectrum
DE disorders. Seizure onset usually occurs in the first or second
DE decades, although later onset has been reported, and there is
DE phenotypic variability within families. Penetrance of the disorder is
DE incomplete.
SY FFEVF.
SY FPEVF.
SY Partial epilepsy with variable foci.
DR MIM; 604364; phenotype.
DR MedGen; C1858477.
DR MeSH; D004828.
KW KW-0887:Epilepsy.
//
ID Epilepsy, familial focal, with variable foci 2.
AC DI-04832
AR FFEVF2.
DE An autosomal dominant form of epilepsy characterized by focal seizures
DE arising from different cortical regions, including the temporal,
DE frontal, parietal, and occipital lobes. Seizure types commonly include
DE temporal lobe epilepsy, frontal lobe epilepsy, and nocturnal frontal
DE lobe epilepsy. Some patients may have intellectual disability or
DE autism spectrum disorders. Seizure onset usually occurs in the first
DE or second decades, although later onset has been reported, and there
DE is phenotypic variability within families. A subset of patients have
DE structural brain abnormalities. Penetrance of the disorder is
DE incomplete.
DR MIM; 617116; phenotype.
DR MedGen; CN238508.
DR MeSH; D004828.
KW KW-0887:Epilepsy.
//
ID Epilepsy, familial focal, with variable foci 3.
AC DI-04831
AR FFEVF3.
DE An autosomal dominant form of epilepsy characterized by focal seizures
DE arising from different cortical regions, including the temporal,
DE frontal, parietal, and occipital lobes. Seizure types commonly include
DE temporal lobe epilepsy, frontal lobe epilepsy, and nocturnal frontal
DE lobe epilepsy. Some patients may have intellectual disability or
DE autism spectrum disorders. Seizure onset usually occurs in the first
DE or second decades, although later onset has been reported, and there
DE is phenotypic variability within families. A subset of patients have
DE structural brain abnormalities. Penetrance of the disorder is
DE incomplete.
DR MIM; 617118; phenotype.
DR MedGen; CN238509.
DR MeSH; D004828.
KW KW-0887:Epilepsy.
//
ID Epilepsy, familial focal, with variable foci 4.
AC DI-05229
AR FFEVF4.
DE An autosomal dominant form of epilepsy characterized by focal seizures
DE arising from different cortical regions, including the temporal,
DE frontal, parietal, and occipital lobes. Seizure types commonly include
DE temporal lobe epilepsy, frontal lobe epilepsy, and nocturnal frontal
DE lobe epilepsy. Some patients may have intellectual disability or
DE autism spectrum disorders. Seizure onset usually occurs in the first
DE or second decades, although later onset has been reported, and there
DE is phenotypic variability within families. A subset of patients have
DE structural brain abnormalities. Penetrance of the disorder is
DE incomplete. FFEVF4 is characterized by onset of focal seizures in the
DE first years of life.
DR MIM; 617935; phenotype.
DR MedGen; CN244552.
DR MeSH; D004828.
KW KW-0887:Epilepsy.
//
ID Epilepsy, familial temporal lobe, 1.
AC DI-00628
AR ETL1.
DE A focal form of epilepsy characterized by recurrent seizures that
DE arise from foci within the temporal lobe. Seizures are usually
DE accompanied by sensory symptoms, most often auditory in nature.
SY ADLTE.
SY ADPEAF.
SY Lateral temporal lobe epilepsy autosomal dominant.
SY Partial epilepsy with auditory features.
DR MIM; 600512; phenotype.
DR MedGen; C1838062.
DR MeSH; D004833.
KW KW-0887:Epilepsy.
//
ID Epilepsy, familial temporal lobe, 5.
AC DI-03336
AR ETL5.
DE A focal form of epilepsy characterized by recurrent seizures that
DE arise from foci within the temporal lobe. Seizures are usually
DE accompanied by sensory symptoms, most often auditory in nature.
DR MIM; 614417; phenotype.
DR MedGen; C3280730.
DR MeSH; D004833.
KW KW-0887:Epilepsy.
//
ID Epilepsy, familial temporal lobe, 7.
AC DI-04463
AR ETL7.
DE A focal form of epilepsy characterized by recurrent seizures that
DE arise from foci within the temporal lobe. Seizures are usually
DE accompanied by sensory symptoms, most often auditory in nature.
DR MIM; 616436; phenotype.
DR MedGen; CN231326.
DR MeSH; D004833.
KW KW-0887:Epilepsy.
//
ID Epilepsy, familial temporal lobe, 8.
AC DI-04482
AR ETL8.
DE A focal form of epilepsy characterized by recurrent seizures that
DE arise from foci within the temporal lobe. Seizures are usually
DE accompanied by sensory symptoms, most often auditory in nature.
DR MIM; 616461; phenotype.
DR MedGen; CN231450.
DR MeSH; D004833.
KW KW-0887:Epilepsy.
//
ID Epilepsy, focal, with speech disorder and with or without impaired intellectual development.
AC DI-03169
AR FESD.
DE An autosomal dominant, highly variable neurologic disorder. Features
DE range from severe early-onset seizures associated with delayed
DE psychomotor development, persistent speech difficulties, and
DE intellectual disability to a more benign entity characterized by
DE childhood onset of mild or asymptomatic seizures associated with
DE transient speech difficulties followed by remission of seizures in
DE adolescence and normal psychomotor development. The disorder
DE encompasses several clinical entities, including Landau-Kleffner
DE syndrome, epileptic encephalopathy with continuous spike and wave
DE during slow-wave sleep, autosomal dominant rolandic epilepsy,
DE intellectual disability and speech dyspraxia, and benign epilepsy with
DE centrotemporal spikes.
SY Acquired aphasia with epilepsy.
SY ADRESD.
SY BECTS.
SY Benign epilepsy of childhood with centrotemporal spikes.
SY Continuous spike and waves during slow-wave sleep syndrome.
SY CSWS.
SY CSWSS.
SY Landau-Kleffner syndrome.
SY LKS.
SY RESDAD.
DR MIM; 245570; phenotype.
DR MedGen; C0282512.
DR MeSH; D001037.
DR MeSH; D004827.
KW KW-0887:Epilepsy.
//
ID Epilepsy, idiopathic generalized 10.
AC DI-02485
AR EIG10.
DE A disorder characterized by recurring generalized seizures in the
DE absence of detectable brain lesions and/or metabolic abnormalities.
DE Generalized seizures arise diffusely and simultaneously from both
DE hemispheres of the brain.
SY EIG10.
SY Susceptibility to idiopathic generalized epilepsy 10.
DR MIM; 613060; phenotype.
DR MedGen; C2751603.
DR MeSH; D004829.
KW KW-0887:Epilepsy.
//
ID Epilepsy, idiopathic generalized 11.
AC DI-00469
AR EIG11.
DE A disorder characterized by recurring generalized seizures in the
DE absence of detectable brain lesions and/or metabolic abnormalities.
DE Generalized seizures arise diffusely and simultaneously from both
DE hemispheres of the brain.
SY Susceptibility to idiopathic generalized epilepsy 11.
DR MIM; 607628; phenotype.
DR MedGen; C2750893.
DR MeSH; D004829.
KW KW-0887:Epilepsy.
//
ID Epilepsy, idiopathic generalized 12.
AC DI-03549
AR EIG12.
DE A disorder characterized by recurring generalized seizures in the
DE absence of detectable brain lesions and/or metabolic abnormalities.
DE Generalized seizures arise diffusely and simultaneously from both
DE hemispheres of the brain. Seizure types include juvenile myoclonic
DE seizures, absence seizures, and generalized tonic-clonic seizures. In
DE some EIG12 patients seizures may remit with age.
SY Susceptibility to idiopathic generalized epilepsy 12.
DR MIM; 614847; phenotype.
DR MedGen; C3553859.
DR MedGen; CN158708.
DR MeSH; D004829.
KW KW-0887:Epilepsy.
//
ID Epilepsy, idiopathic generalized 13.
AC DI-04084
AR EIG13.
DE A disorder characterized by recurring generalized seizures in the
DE absence of detectable brain lesions and/or metabolic abnormalities.
DE Generalized seizures arise diffusely and simultaneously from both
DE hemispheres of the brain. Seizure types include juvenile myoclonic
DE seizures, absence seizures, and generalized tonic-clonic seizures.
DR MIM; 611136; phenotype.
DR MedGen; C2749942.
DR MeSH; D004829.
KW KW-0887:Epilepsy.
//
ID Epilepsy, idiopathic generalized 14.
AC DI-04596
AR EIG14.
DE An autosomal dominant form of idiopathic generalized epilepsy, a
DE disorder characterized by recurring generalized seizures in the
DE absence of detectable brain lesions and/or metabolic abnormalities.
DE Generalized seizures arise diffusely and simultaneously from both
DE hemispheres of the brain. Seizure types include juvenile myoclonic
DE seizures, absence seizures, and generalized tonic-clonic seizures.
DR MIM; 616685; phenotype.
DR MedGen; CN234615.
DR MeSH; D004829.
KW KW-0887:Epilepsy.
//
ID Epilepsy, idiopathic generalized 15.
AC DI-05509
AR EIG15.
DE An autosomal dominant form of idiopathic generalized epilepsy, a
DE disorder characterized by recurring generalized seizures in the
DE absence of detectable brain lesions and/or metabolic abnormalities.
DE Generalized seizures arise diffusely and simultaneously from both
DE hemispheres of the brain. Seizure types include juvenile myoclonic
DE seizures, absence seizures, and generalized tonic-clonic seizures.
DE EIG15 is characterized by onset of variable types of seizures in the
DE first decade of life.
DR MIM; 618357; phenotype.
DR MedGen; CN258247.
DR MeSH; D004829.
KW KW-0887:Epilepsy.
//
ID Epilepsy, idiopathic generalized 16.
AC DI-05665
AR EIG16.
DE An autosomal dominant form of idiopathic generalized epilepsy, a
DE disorder characterized by recurring generalized seizures in the
DE absence of detectable brain lesions and/or metabolic abnormalities.
DE Generalized seizures arise diffusely and simultaneously from both
DE hemispheres of the brain. Seizure types include juvenile myoclonic
DE seizures, absence seizures, and generalized tonic-clonic seizures.
DE EIG16 is characterized by onset of seizures soon after birth or in the
DE first years of life.
DR MIM; 618596; phenotype.
DR MedGen; CN262334.
DR MeSH; D004829.
KW KW-0887:Epilepsy.
//
ID Epilepsy, idiopathic generalized 17.
AC DI-06235
AR EIG17.
DE A form of idiopathic generalized epilepsy, a disorder characterized by
DE recurring generalized seizures in the absence of detectable brain
DE lesions and/or metabolic abnormalities. Generalized seizures arise
DE diffusely and simultaneously from both hemispheres of the brain.
DE Seizure types include juvenile myoclonic seizures, absence seizures,
DE and generalized tonic-clonic seizures. Both autosomal dominant and
DE autosomal recessive EIG17 inheritance have been reported.
DR MIM; 602477; phenotype.
DR MedGen; C1865342.
DR MeSH; D004829.
KW KW-0887:Epilepsy.
//
ID Epilepsy, idiopathic generalized 18.
AC DI-06223
AR EIG18.
DE An autosomal dominant form of idiopathic generalized epilepsy, a
DE disorder characterized by recurring generalized seizures in the
DE absence of detectable brain lesions and/or metabolic abnormalities.
DE Generalized seizures arise diffusely and simultaneously from both
DE hemispheres of the brain. Seizure types include juvenile myoclonic
DE seizures, absence seizures, and generalized tonic-clonic seizures.
DE EIG18 is characterized by onset of myoclonic seizures in infancy.
DE Although the seizures remit, some patients may have later speech or
DE cognitive impairment.
DR MIM; 619521; phenotype.
DR MedGen; CN300443.
DR MeSH; D004829.
KW KW-0887:Epilepsy.
//
ID Epilepsy, idiopathic generalized 6.
AC DI-00594
AR EIG6.
DE A disorder characterized by recurring generalized seizures in the
DE absence of detectable brain lesions and/or metabolic abnormalities.
DE Generalized seizures arise diffusely and simultaneously from both
DE hemispheres of the brain.
SY Susceptibility to idiopathic generalized epilepsy 6.
DR MIM; 611942; phenotype.
DR MedGen; C2677793.
DR MeSH; D004829.
KW KW-0887:Epilepsy.
//
ID Epilepsy, idiopathic generalized 8.
AC DI-02484
AR EIG8.
DE A disorder characterized by recurring generalized seizures in the
DE absence of detectable brain lesions and/or metabolic abnormalities.
DE Seizure types are variable, but include myoclonic seizures, absence
DE seizures, febrile seizures, complex partial seizures, and generalized
DE tonic-clonic seizures.
SY Susceptibility to idiopathic generalized epilepsy 8.
DR MIM; 612899; phenotype.
DR MedGen; C2752062.
DR MeSH; D004829.
KW KW-0887:Epilepsy.
//
ID Epilepsy, idiopathic generalized 9.
AC DI-00593
AR EIG9.
DE A disorder characterized by recurring generalized seizures in the
DE absence of detectable brain lesions and/or metabolic abnormalities.
DE Generalized seizures arise diffusely and simultaneously from both
DE hemispheres of the brain.
SY Susceptibility to idiopathic generalized epilepsy 9.
DR MIM; 607682; phenotype.
DR MedGen; C2750887.
DR MeSH; D004829.
KW KW-0887:Epilepsy.
//
ID Epilepsy, nocturnal frontal lobe, 1.
AC DI-00819
AR ENFL1.
DE An autosomal dominant focal epilepsy characterized by nocturnal
DE seizures with hyperkinetic automatisms and poorly organized
DE stereotyped movements.
SY ADNFLE.
SY Autosomal dominant nocturnal frontal lobe epilepsy.
DR MIM; 600513; phenotype.
DR MedGen; C1838049.
DR MeSH; D017034.
KW KW-0887:Epilepsy.
//
ID Epilepsy, nocturnal frontal lobe, 3.
AC DI-00820
AR ENFL3.
DE An autosomal dominant focal epilepsy characterized by nocturnal
DE seizures with hyperkinetic automatisms and poorly organized
DE stereotyped movements.
DR MIM; 605375; phenotype.
DR MedGen; C1854335.
DR MeSH; D017034.
KW KW-0887:Epilepsy.
//
ID Epilepsy, nocturnal frontal lobe, 4.
AC DI-00821
AR ENFL4.
DE An autosomal dominant focal epilepsy characterized by nocturnal
DE seizures associated with fear sensation, tongue movements, and
DE nocturnal wandering, closely resembling nightmares and sleep walking.
SY Familial epilepsy with nocturnal wandering and ictal fear.
DR MIM; 610353; phenotype.
DR MedGen; C1835905.
DR MeSH; D017034.
KW KW-0887:Epilepsy.
//
ID Epilepsy, nocturnal frontal lobe, 5.
AC DI-03663
AR ENFL5.
DE An autosomal dominant focal epilepsy syndrome characterized by
DE childhood onset of clusters of motor seizures during sleep. Some
DE patients may develop behavioral or psychiatric manifestations and/or
DE intellectual disability. The phenotype is more severe than observed in
DE other genetic forms of nocturnal frontal lobe epilepsy.
DR MIM; 615005; phenotype.
DR MedGen; C3554306.
DR MedGen; CN164258.
DR MeSH; D017034.
KW KW-0887:Epilepsy.
//
ID Epilepsy, progressive myoclonic 1.
AC DI-00952
AR EPM1.
DE A form of progressive myoclonic epilepsy, a clinically and genetically
DE heterogeneous group of disorders defined by the combination of action
DE and reflex myoclonus, other types of epileptic seizures, and
DE progressive neurodegeneration and neurocognitive impairment. EPM1 is
DE an autosomal recessive form characterized by severe, stimulus-
DE sensitive myoclonus and tonic-clonic seizures. The onset, occurring
DE between 6 and 13 years of age, is characterized by convulsions.
DE Myoclonus begins 1 to 5 years later. The twitchings occur
DE predominantly in the proximal muscles of the extremities and are
DE bilaterally symmetrical, although asynchronous. At first small, they
DE become late in the clinical course so violent that the victim is
DE thrown to the floor. Mental deterioration and eventually dementia
DE develop.
SY Baltic myoclonic epilepsy.
SY EPM1A.
SY Myoclonic epilepsy of Unverricht and Lundborg.
SY Progressive myoclonic epilepsy 1.
SY Progressive myoclonic epilepsy 1A.
SY Progressive myoclonic epilepsy Unverricht-Lundborg type.
SY ULD.
DR MIM; 254800; phenotype.
DR MedGen; C0751785.
DR MeSH; D020191.
KW KW-0523:Neurodegeneration.
KW KW-0887:Epilepsy.
//
ID Epilepsy, progressive myoclonic 10.
AC DI-04581
AR EPM10.
DE A form of progressive myoclonic epilepsy, a clinically and genetically
DE heterogeneous group of disorders defined by the combination of action
DE and reflex myoclonus, other types of epileptic seizures, and
DE progressive neurodegeneration and neurocognitive impairment. EPM10 is
DE an autosomal recessive form characterized by progressive dysarthria,
DE myoclonus, ataxia, cognitive decline, psychosis, dementia and
DE spasticity, with onset in childhood. There is variability between
DE patients.
SY Early-onset Lafora body disease.
DR MIM; 616640; phenotype.
DR MedGen; CN233224.
DR MeSH; D020191.
KW KW-0523:Neurodegeneration.
KW KW-0887:Epilepsy.
//
ID Epilepsy, progressive myoclonic 11.
AC DI-05834
AR EPM11.
DE A form of progressive myoclonic epilepsy, a clinically and genetically
DE heterogeneous group of disorders defined by the combination of action
DE and reflex myoclonus, other types of epileptic seizures, and
DE progressive neurodegeneration and neurocognitive impairment. EPM11 is
DE an autosomal dominant form. Clinical features include normal or mildly
DE delayed early development, developmental regression after seizures
DE onset, inability to walk, severely impaired intellectual development,
DE poor or absent speech, spasticity, ataxia, and intention tremor. Brain
DE imaging shows cerebellar atrophy in some patients.
DR MIM; 618876; phenotype.
DR MedGen; CN280919.
DR MeSH; D020191.
KW KW-0523:Neurodegeneration.
KW KW-0887:Epilepsy.
//
ID Epilepsy, progressive myoclonic 12.
AC DI-06052
AR EPM12.
DE A form of progressive myoclonic epilepsy, a clinically and genetically
DE heterogeneous group of disorders defined by the combination of action
DE and reflex myoclonus, other types of epileptic seizures, and
DE progressive neurodegeneration and neurocognitive impairment. EPM12 is
DE an autosomal recessive form characterized by onset of tonic-clonic
DE seizures and/or myoclonus in the second decade of life. Affected
DE individuals develop cerebellar ataxia associated with progressive
DE cerebral and cerebellar atrophy on brain imaging. Most patients lose
DE ambulation and become wheelchair-bound. Additional more variable
DE features include mild cognitive dysfunction or psychiatric
DE manifestations, such as depression or anxiety.
DR MIM; 619191; phenotype.
DR MedGen; CN295304.
DR MeSH; D020191.
KW KW-0523:Neurodegeneration.
KW KW-0887:Epilepsy.
//
ID Epilepsy, progressive myoclonic 1B.
AC DI-00953
AR EPM1B.
DE A form of progressive myoclonic epilepsy, a clinically and genetically
DE heterogeneous group of disorders defined by the combination of action
DE and reflex myoclonus, other types of epileptic seizures, and
DE progressive neurodegeneration and neurocognitive impairment. EPM1B is
DE an autosomal recessive form characterized by myoclonus that progressed
DE in severity over time, tonic-clonic seizures and ataxia.
DR MIM; 612437; phenotype.
DR MedGen; C2676254.
DR MeSH; D020191.
KW KW-0523:Neurodegeneration.
KW KW-0887:Epilepsy.
//
ID Epilepsy, progressive myoclonic 2.
AC DI-00954
AR EPM2.
DE A form of progressive myoclonic epilepsy, a clinically and genetically
DE heterogeneous group of disorders defined by the combination of action
DE and reflex myoclonus, other types of epileptic seizures, and
DE progressive neurodegeneration and neurocognitive impairment. EPM2 is
DE an autosomal recessive and severe form of adolescent-onset progressive
DE epilepsy. Typically, as seizures increase in frequency, cognitive
DE function declines towards dementia, and affected individuals die
DE usually within 10 years after onset. EPM2 occurs worldwide, but it is
DE particularly common in the mediterranean countries of southern Europe
DE and northern Africa, in southern India and in the Middle East. At the
DE cellular level, it is characterized by accumulation of starch-like
DE polyglucosans called Lafora bodies (LBs) that are most abundant in
DE organs with the highest glucose metabolism: brain, heart, liver and
DE skeletal muscle. Among other conditions involving polyglucosans, EPM2
DE is unique in that the inclusions are in neuronal dendrites but not
DE axons and the forming polyglucosan fibrils are associated with the
DE endoplasmic reticulum.
SY EPM2A.
SY EPM2B.
SY Lafora's disease.
SY Lafora disease.
SY LD.
SY MELF.
SY Myoclonic epilepsy of Lafora.
SY Progressive myoclonic epilepsy 2.
SY Progressive myoclonic epilepsy 2A.
SY Progressive myoclonic epilepsy 2B.
SY Progressive myoclonic epilepsy Lafora type.
DR MIM; 254780; phenotype.
DR MedGen; C0751783.
DR MedGen; C1850764.
DR MeSH; D020192.
KW KW-0523:Neurodegeneration.
KW KW-0887:Epilepsy.
//
ID Epilepsy, progressive myoclonic 3, with or without intracellular inclusions.
AC DI-00955
AR EPM3.
DE A form of progressive myoclonic epilepsy, a clinically and genetically
DE heterogeneous group of disorders defined by the combination of action
DE and reflex myoclonus, other types of epileptic seizures, and
DE progressive neurodegeneration and neurocognitive impairment. EPM3 is
DE an autosomal recessive, severe, form with early onset. Multifocal
DE myoclonic seizures begin between 16 and 24 months of age after normal
DE initial development. Neurodegeneration and regression occur with
DE seizure onset. Other features include intellectual disability,
DE dysarthria, truncal ataxia, and loss of fine finger movements. EEG
DE shows slow dysrhythmia, multifocal and occasionally generalized
DE epileptiform discharges. In some patients, ultrastructural findings on
DE skin biopsies identify intracellular accumulation of autofluorescent
DE lipopigment storage material, consistent with neuronal ceroid
DE lipofuscinosis.
SY CLN14.
SY Neuronal ceroid lipofuscinosis 14.
SY Progressive myoclonic epilepsy 3.
DR MIM; 611726; phenotype.
DR MedGen; C2673257.
DR MeSH; D009472.
DR MeSH; D020191.
KW KW-0525:Neuronal ceroid lipofuscinosis.
KW KW-0887:Epilepsy.
//
ID Epilepsy, progressive myoclonic 4, with or without renal failure.
AC DI-01169
AR EPM4.
DE A form of progressive myoclonic epilepsy, a clinically and genetically
DE heterogeneous group of disorders defined by the combination of action
DE and reflex myoclonus, other types of epileptic seizures, and
DE progressive neurodegeneration and neurocognitive impairment. EPM4 is
DE an autosomal recessive form associated with renal failure in some
DE cases. Cognitive function is preserved.
SY Action myoclonus-renal failure syndrome.
SY AMRF.
SY Myoclonus-nephropathy syndrome.
DR MIM; 254900; phenotype.
DR MedGen; C0751779.
DR MeSH; D020191.
KW KW-0523:Neurodegeneration.
KW KW-0887:Epilepsy.
//
ID Epilepsy, progressive myoclonic 6.
AC DI-03161
AR EPM6.
DE A form of progressive myoclonic epilepsy, a clinically and genetically
DE heterogeneous group of disorders defined by the combination of action
DE and reflex myoclonus, other types of epileptic seizures, and
DE progressive neurodegeneration and neurocognitive impairment. EPM6 is
DE an autosomal recessive form characterized by onset of ataxia in the
DE first years of life, followed by action myoclonus and seizures later
DE in childhood, and loss of independent ambulation in the second decade.
DE Cognition is not usually affected, although mild memory difficulties
DE may occur in the third decade.
DR MIM; 614018; phenotype.
DR MedGen; C3279627.
DR MeSH; D020191.
KW KW-0523:Neurodegeneration.
KW KW-0887:Epilepsy.
//
ID Epilepsy, progressive myoclonic 7.
AC DI-04310
AR EPM7.
DE A form of progressive myoclonic epilepsy, a clinically and genetically
DE heterogeneous group of disorders defined by the combination of action
DE and reflex myoclonus, other types of epileptic seizures, and
DE progressive neurodegeneration and neurocognitive impairment. EPM7 is
DE an autosomal dominant form characterized by myoclonic epilepsy
DE apparent in the first or second decades of life. Cognitive function
DE may decline in some patients.
DR MIM; 616187; phenotype.
DR MedGen; CN225185.
DR MeSH; D020191.
KW KW-0523:Neurodegeneration.
KW KW-0887:Epilepsy.
//
ID Epilepsy, progressive myoclonic 8.
AC DI-04341
AR EPM8.
DE A form of progressive myoclonic epilepsy, a clinically and genetically
DE heterogeneous group of disorders defined by the combination of action
DE and reflex myoclonus, other types of epileptic seizures, and
DE progressive neurodegeneration and neurocognitive impairment. EPM8 is
DE an autosomal recessive form characterized by myoclonus, generalized
DE tonic-clonic seizures and moderate to severe cognitive impairment.
DR MIM; 616230; phenotype.
DR MedGen; CN226297.
DR MeSH; D020191.
KW KW-0523:Neurodegeneration.
KW KW-0887:Epilepsy.
//
ID Epilepsy, progressive myoclonic 9.
AC DI-04510
AR EPM9.
DE A form of progressive myoclonic epilepsy, a clinically and genetically
DE heterogeneous group of disorders defined by the combination of action
DE and reflex myoclonus, other types of epileptic seizures, and
DE progressive neurodegeneration and neurocognitive impairment. EPM9 is
DE an autosomal recessive form characterized by myoclonus, tonic-clonic
DE seizures, ataxia, and delayed psychomotor development.
DR MIM; 616540; phenotype.
DR MedGen; CN232697.
DR MeSH; D020191.
KW KW-0523:Neurodegeneration.
KW KW-0887:Epilepsy.
//
ID Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp.
AC DI-05646
AR EPRPDC.
DE An autosomal recessive neurologic disorder characterized by onset of
DE focal seizures in infancy and exercise-induced dystonia in childhood.
DE Clinical features include involuntary movements and difficulties with
DE fine motor skills of the hand.
SY RE-PED-WC.
DR MIM; 608105; phenotype.
DR MedGen; C1842531.
DR MeSH; D019305.
KW KW-0887:Epilepsy.
//
ID Epilepsy, X-linked, with variable learning disabilities and behavior disorders.
AC DI-00470
AR EPILX.
DE A neurologic disorder characterized by variable combinations of
DE epilepsy, learning difficulties, macrocephaly, and aggressive
DE behavior.
DR MIM; 300491; phenotype.
DR MedGen; C1845343.
DR MeSH; D004827.
DR MeSH; D019954.
KW KW-0887:Epilepsy.
//
ID Epileptic encephalopathy, infantile or early childhood, 1.
AC DI-05114
AR IECEE1.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE childhood onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. IECEE1 is an autosomal dominant condition with onset
DE of seizures between the first weeks and first years of life.
DR MIM; 617711; phenotype.
DR MedGen; CN547334.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Epileptic encephalopathy, infantile or early childhood, 2.
AC DI-05174
AR IECEE2.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE childhood onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. IECEE2 is an autosomal dominant condition with
DE variable age at seizure onset, ranging from early infancy to 6 years.
DR MIM; 617829; phenotype.
DR MedGen; CN757794.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Epileptic encephalopathy, infantile or early childhood, 3.
AC DI-05273
AR IECEE3.
DE A form of epileptic encephalopathy, a heterogeneous group of severe
DE childhood onset epilepsies characterized by refractory seizures,
DE neurodevelopmental impairment, and poor prognosis. Development is
DE normal prior to seizure onset, after which cognitive and motor delays
DE become apparent. IECEE3 is an autosomal dominant form characterized by
DE onset of seizures in the first years of life.The severity of the
DE phenotype is highly variable: some patients may be non-verbal and non-
DE ambulatory with spastic quadriparesis and poor eye contact, whereas
DE others have moderate intellectual disability.
DR MIM; 618012; phenotype.
DR MedGen; CN248521.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Epiphyseal chondrodysplasia, Miura type.
AC DI-04178
AR ECDM.
DE An overgrowth syndrome characterized by tall stature, long hands and
DE feet with arachnodactyly, macrodactyly of the great toes, scoliosis,
DE coxa valga and slipped capital femoral epiphysis.
DR MIM; 615923; phenotype.
DR MedGen; CN207511.
DR MeSH; D006130.
DR MeSH; D017880.
//
ID Epiphyseal dysplasia, multiple, 7.
AC DI-05118
AR EDM7.
DE A form of multiple epiphyseal dysplasia, a generalized skeletal
DE dysplasia associated with significant morbidity. Joint pain, joint
DE deformity, waddling gait, and short stature are the main clinical
DE signs and symptoms. Radiological examination of the skeleton shows
DE delayed, irregular mineralization of the epiphyseal ossification
DE centers and of the centers of the carpal and tarsal bones. Multiple
DE epiphyseal dysplasia is broadly categorized into the more severe
DE Fairbank and the milder Ribbing types. The Fairbank type is
DE characterized by shortness of stature, short and stubby fingers, small
DE epiphyses in several joints, including the knee, ankle, hand, and hip.
DE The Ribbing type is confined predominantly to the hip joints and is
DE characterized by hands that are normal and stature that is normal or
DE near-normal. EDM7 inheritance is autosomal recessive.
DR MIM; 617719; phenotype.
DR MedGen; CN533578.
DR MeSH; D010009.
//
ID Episodic ataxia 1.
AC DI-00475
AR EA1.
DE An autosomal dominant disorder characterized by brief episodes of
DE ataxia and dysarthria. Neurological examination during and between the
DE attacks demonstrates spontaneous, repetitive discharges in the distal
DE musculature (myokymia) that arise from peripheral nerve. Nystagmus is
DE absent.
SY AEMK.
SY EA-1.
SY EAM.
SY Episodic ataxia with myokymia.
SY Paroxysmal ataxia with neuromyotonia.
DR MIM; 160120; phenotype.
DR MedGen; C1719788.
DR MeSH; D020386.
//
ID Episodic ataxia 2.
AC DI-00476
AR EA2.
DE An autosomal dominant disorder characterized by acetozolamide-
DE responsive attacks of ataxia, migraine-like symptoms, interictal
DE nystagmus, and cerebellar atrophy.
SY Acetazolamide-responsive hereditary paroxysmal cerebellar ataxia.
SY APCA.
SY CAPA.
SY EA-2.
SY Episodic ataxia nystagmus-associated.
SY Episodic ataxia with nystagmus.
SY Hereditary paroxysmal cerebellopathy.
DR MIM; 108500; phenotype.
DR MedGen; C1720416.
DR MeSH; D001259.
//
ID Episodic ataxia 5.
AC DI-03073
AR EA5.
DE A disorder characterized by episodes of vertigo and ataxia that last
DE for several hours. Interictal examination show spontaneous downbeat
DE and gaze-evoked nystagmus, mild dysarthria and truncal ataxia.
SY EA-5.
DR MIM; 613855; phenotype.
DR MedGen; C1866039.
DR MeSH; D001259.
//
ID Episodic ataxia 6.
AC DI-00477
AR EA6.
DE A disorder characterized by episodic ataxia, seizures, migraine and
DE alternating hemiplegia.
SY EA-6.
DR MIM; 612656; phenotype.
DR MedGen; C2675211.
DR MeSH; D001259.
//
ID Episodic ataxia 9.
AC DI-05869
AR EA9.
DE An autosomal dominant neurologic disorder characterized by episodic
DE ataxia manifesting in the first years of life, early-onset seizures,
DE difficulty walking, dizziness, slurred speech, headache, vomiting, and
DE pain. The duration of ataxic episodes is heterogeneous. Most patients
DE show episodes lasting minutes to maximum several hours, but periods
DE lasting days up to weeks have been reported. Some patients have mildly
DE delayed development with speech delay and/or autistic features or
DE mildly impaired intellectual development.
DR MIM; 618924; phenotype.
DR MedGen; CN230100.
DR MeSH; D001259.
//
ID Episodic kinesigenic dyskinesia 1.
AC DI-03309
AR EKD1.
DE An autosomal dominant neurologic condition characterized by recurrent
DE and brief attacks of abnormal involuntary movements, triggered by
DE sudden voluntary movement. These attacks usually have onset during
DE childhood or early adulthood and can involve dystonic postures,
DE chorea, or athetosis.
SY Dystonia 10.
SY DYT10.
SY Familial paroxysmal dystonia.
SY Paroxysmal kinesigenic choreoathetosis.
SY Paroxysmal kinesigenic dyskinesia.
SY PKC.
SY PKD.
DR MIM; 128200; phenotype.
DR MedGen; C1868682.
DR MeSH; D004421.
KW KW-1023:Dystonia.
//
ID Episodic pain syndrome, familial, 1.
AC DI-03683
AR FEPS1.
DE An autosomal dominant neurologic disorder characterized by onset in
DE infancy of episodic debilitating upper body pain triggered by fasting,
DE cold, and physical stress. The period of intense pain is accompanied
DE by breathing difficulties, tachycardia, sweating, generalized pallor,
DE peribuccal cyanosis, and stiffness of the abdominal wall. Affected
DE individuals do not manifest altered pain sensitivity outside the
DE episodes.
DR MIM; 615040; phenotype.
DR MedGen; C3554380.
DR MedGen; C3808667.
DR MedGen; CN164737.
DR MeSH; D010146.
//
ID Episodic pain syndrome, familial, 2.
AC DI-03973
AR FEPS2.
DE An autosomal dominant neurologic disorder characterized by adult-onset
DE of paroxysmal pain mainly affecting the distal lower extremities.
DR MIM; 615551; phenotype.
DR MedGen; C3809893.
DR MedGen; CN182246.
DR MeSH; D010146.
//
ID Episodic pain syndrome, familial, 3.
AC DI-03978
AR FEPS3.
DE An autosomal dominant neurologic disorder characterized by paroxysmal
DE pain mainly affecting the distal lower extremities and occasionally
DE the upper body, especially the joints of fingers and arms. The pain is
DE exacerbated with fatigue.
DR MIM; 615552; phenotype.
DR MedGen; C3809899.
DR MedGen; CN182247.
DR MeSH; D010146.
//
ID Epithelial recurrent erosion dystrophy.
AC DI-04534
AR ERED.
DE A corneal dystrophy characterized by recurrent episodes of epithelial
DE erosions from childhood, with occasional impairment of vision. Most
DE patients have attacks of redness, photophobia, epiphora, and ocular
DE pain. Exposure to sunlight or draught, dust and smoke and lack of
DE sleep can precipitate attacks.
SY Corneal erosions, recurring hereditary.
SY RCES.
SY Recurrent corneal erosion syndrome.
DR MIM; 122400; phenotype.
DR MedGen; C1852551.
DR MeSH; D003317.
//
ID Erythrocytosis, familial, 1.
AC DI-00479
AR ECYT1.
DE An autosomal dominant disorder characterized by elevated hemoglobin
DE and hematocrit, hypersensitivity of erythroid progenitors to
DE erythropoietin, erythropoietin low serum levels, and no increase in
DE platelets nor leukocytes. It has a relatively benign course and does
DE not progress to leukemia.
SY Autosomal dominant benign erythrocytosis.
SY Familial primary polycythemia.
SY PFCP.
DR MIM; 133100; phenotype.
DR MedGen; C1851490.
DR MeSH; D011086.
KW KW-0985:Congenital erythrocytosis.
//
ID Erythrocytosis, familial, 2.
AC DI-00480
AR ECYT2.
DE An autosomal recessive disorder characterized by an increase in serum
DE red blood cell mass, hypersensitivity of erythroid progenitors to
DE erythropoietin, increased erythropoietin serum levels, and normal
DE oxygen affinity. Patients with ECYT2 carry a high risk for peripheral
DE thrombosis and cerebrovascular events.
SY Autosomal recessive benign erythrocytosis.
SY Polycythemia Chuvash type.
SY VHL-dependent polycythemia.
DR MIM; 263400; phenotype.
DR MedGen; C1837915.
DR MeSH; D011086.
KW KW-0985:Congenital erythrocytosis.
//
ID Erythrocytosis, familial, 3.
AC DI-00481
AR ECYT3.
DE An autosomal dominant disorder characterized by elevated serum
DE hemoglobin and hematocrit, and normal serum erythropoietin levels.
DR MIM; 609820; phenotype.
DR MedGen; C1853286.
DR MeSH; D011086.
KW KW-0985:Congenital erythrocytosis.
//
ID Erythrocytosis, familial, 4.
AC DI-00482
AR ECYT4.
DE An autosomal dominant disorder characterized by elevated serum
DE hemoglobin and hematocrit, and normal platelet and leukocyte counts.
DR MIM; 611783; phenotype.
DR MedGen; C2673187.
DR MeSH; D011086.
KW KW-0985:Congenital erythrocytosis.
//
ID Erythrocytosis, familial, 5.
AC DI-05215
AR ECYT5.
DE An autosomal dominant disorder characterized by elevated serum
DE hemoglobin and hematocrit. Some patients have increased serum
DE erythropoietin levels.
DR MIM; 617907; phenotype.
DR MedGen; CN873435.
DR MeSH; D011086.
KW KW-0985:Congenital erythrocytosis.
//
ID Erythrocytosis, familial, 8.
AC DI-03027
AR ECYT8.
DE An autosomal recessive disorder characterized by elevated serum
DE hemoglobin and hematocrit, and biphosphoglycerate mutase deficiency.
DE ECYT8 affected individuals manifest hemolytic anemia and splenomegaly.
SY Bisphosphoglycerate mutase deficiency.
SY Bisphosphoglyceromutase deficiency.
SY BPGM deficiency.
SY Diphosphoglycerate mutase deficiency of erythrocyte.
SY DPGM deficiency.
SY Erythrocytosis due to bisphosphoglycerate mutase deficiency.
DR MIM; 222800; phenotype.
DR MedGen; C1291620.
DR MeSH; D000743.
KW KW-0985:Congenital erythrocytosis.
//
ID Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE.
AC DI-03968
AR EPKHE.
DE A syndrome characterized by severe dermatitis, multiple allergies and
DE metabolic wasting. Clinical features include erythroderma, yellowish
DE papules and plaques arranged at the periphery of the palms, along the
DE fingers and over weight-bearing areas of the feet, skin erosions and
DE scaling, and hypotrichosis. Additionally, patients manifest severe
DE food allergies, elevated immunoglobulin E (IgE) levels and recurrent
DE infections with marked metabolic wasting.
SY SAM syndrome.
SY Severe dermatitis, multiple allergies, and metabolic wasting syndrome.
DR MIM; 615508; phenotype.
DR MedGen; C3809719.
DR MedGen; CN181198.
DR MeSH; D003873.
DR MeSH; D007039.
DR MeSH; D007645.
KW KW-1007:Palmoplantar keratoderma.
KW KW-1063:Hypotrichosis.
//
ID Erythroderma, ichthyosiform, congenital reticular.
AC DI-02981
AR CRIE.
DE A rare skin condition characterized by slowly enlarging islands of
DE normal skin surrounded by erythematous ichthyotic patches in a
DE reticulated pattern. The condition starts in infancy as a lamellar
DE ichthyosis, with small islands of normal skin resembling confetti
DE appearing in late childhood and at puberty. Histopathologic findings
DE include band-like parakeratosis, psoriasiform acanthosis, and
DE vacuolization of keratinocytes with binucleated cells in the upper
DE epidermis, sometimes associated with amyloid deposition in the dermis.
DE Ultrastructural abnormalities include perinuclear shells formed from a
DE network of fine filaments in the upper epidermis.
SY Aarau disease.
SY Ichthyosis variegata.
SY Ichthyosis with confetti.
SY IWC.
SY Reticular erythrokeratoderma.
DR MIM; 609165; phenotype.
DR MedGen; C1836681.
DR MedGen; C3665704.
DR MeSH; D016113.
KW KW-0977:Ichthyosis.
//
ID Erythrokeratodermia variabilis et progressiva 1.
AC DI-00483
AR EKVP1.
DE A form of erythrokeratodermia variabilis et progressiva, a
DE genodermatosis characterized by the coexistence of two independent
DE skin lesions: transient erythema and hyperkeratosis that is usually
DE localized but occasionally occurs in its generalized form. Clinical
DE presentation varies significantly within a family and from one family
DE to another. Palmoplantar keratoderma is present in around 50% of
DE cases.
SY Congenital familial erythrokeratodermia figurata in plaques.
SY EKV.
SY EKVP.
SY Erythrokeratodermia progressive symmetric.
SY Erythrokeratodermia variabilis.
SY Erythrokeratodermia variabilis et progressiva.
SY Erythrokeratodermia variabilis Mendes da Costa type.
SY Erythrokeratodermia variabilis with erythema gyratum repens.
SY Greither Disease.
SY Keratosis palmoplantaris transgrediens et progrediens.
SY PSEK.
SY Transgrediens et progrediens palmoplantar keratoderma.
DR MIM; 133200; phenotype.
DR MedGen; C0265961.
DR MedGen; C1851479.
DR MedGen; C1851480.
DR MeSH; D056266.
KW KW-1007:Palmoplantar keratoderma.
//
ID Erythrokeratodermia variabilis et progressiva 2.
AC DI-05018
AR EKVP2.
DE A form of erythrokeratodermia variabilis et progressiva, a
DE genodermatosis characterized by the coexistence of two independent
DE skin lesions: transient erythema and hyperkeratosis that is usually
DE localized but occasionally occurs in its generalized form. Clinical
DE presentation varies significantly within a family and from one family
DE to another. Palmoplantar keratoderma is present in around 50% of
DE cases.
DR MIM; 617524; phenotype.
DR MedGen; CN258420.
DR MeSH; D056266.
KW KW-1007:Palmoplantar keratoderma.
//
ID Erythrokeratodermia variabilis et progressiva 3.
AC DI-05019
AR EKVP3.
DE A form of erythrokeratodermia variabilis et progressiva, a
DE genodermatosis characterized by the coexistence of two independent
DE skin lesions: transient erythema and hyperkeratosis that is usually
DE localized but occasionally occurs in its generalized form. Clinical
DE presentation varies significantly within a family and from one family
DE to another. Palmoplantar keratoderma is present in around 50% of
DE cases.
DR MIM; 617525; phenotype.
DR MedGen; CN258421.
DR MeSH; D056266.
KW KW-1007:Palmoplantar keratoderma.
//
ID Erythrokeratodermia variabilis et progressiva 4.
AC DI-05020
AR EKVP4.
DE A form of erythrokeratodermia variabilis et progressiva, a
DE genodermatosis characterized by the coexistence of two independent
DE skin lesions: transient erythema and hyperkeratosis that is usually
DE localized but occasionally occurs in its generalized form. Clinical
DE presentation varies significantly within a family and from one family
DE to another. Palmoplantar keratoderma is present in around 50% of
DE cases.
DR MIM; 617526; phenotype.
DR MedGen; CN258422.
DR MeSH; D056266.
KW KW-1007:Palmoplantar keratoderma.
//
ID Erythrokeratodermia variabilis et progressiva 5.
AC DI-05138
AR EKVP5.
DE A form of erythrokeratodermia variabilis et progressiva, a
DE genodermatosis characterized by the coexistence of two independent
DE skin lesions: transient erythema and hyperkeratosis that is usually
DE localized but occasionally occurs in its generalized form. Clinical
DE presentation varies significantly within a family and from one family
DE to another. Palmoplantar keratoderma is present in around 50% of
DE cases. EKVP5 inheritance is autosomal recessive.
DR MIM; 617756; phenotype.
DR MedGen; CN583363.
DR MeSH; D056266.
KW KW-1007:Palmoplantar keratoderma.
//
ID Erythrokeratodermia variabilis et progressiva 6.
AC DI-05634
AR EKVP6.
DE A form of erythrokeratodermia variabilis et progressiva, a
DE genodermatosis characterized by the coexistence of two independent
DE skin lesions: transient erythema and hyperkeratosis that is usually
DE localized but occasionally occurs in its generalized form. Clinical
DE presentation varies significantly within a family and from one family
DE to another. Palmoplantar keratoderma is present in around 50% of
DE cases. EKVP6 inheritance is autosomal dominant.
DR MIM; 618531; phenotype.
DR MedGen; C5193144.
DR MeSH; D056266.
KW KW-1007:Palmoplantar keratoderma.
//
ID Erythrokeratodermia variabilis et progressiva 7.
AC DI-06018
AR EKVP7.
DE A form of erythrokeratodermia variabilis et progressiva, a
DE genodermatosis characterized by the coexistence of two independent
DE skin lesions: transient erythema and hyperkeratosis that is usually
DE localized but occasionally occurs in its generalized form. Clinical
DE presentation varies significantly within a family and from one family
DE to another. Palmoplantar keratoderma is present in around 50% of
DE cases. EKVP7 is an autosomal recessive form characterized by
DE palmoplantar keratoderma that extends to the dorsal surface of the
DE hands and feet, as well as erythematous annular skin lesions.
DE Pruritus, woolly hair, and dystrophic nails may also be present.
DR MIM; 619209; phenotype.
DR MedGen; CN295313.
DR MeSH; D056266.
KW KW-1007:Palmoplantar keratoderma.
//
ID Erythroleukemia, familial.
AC DI-05396
AR FERLK.
DE An autosomal dominant myeloproliferative disorder characterized by
DE neoplastic proliferation of erythroblastic and myeloblastic elements
DE with atypical erythroblasts and myeloblasts in the peripheral blood.
DE Disease penetrance is incomplete.
SY DI Guglielmo disease, familial.
SY Leukemia, acute myelogenous, M6.
DR MIM; 133180; phenotype.
DR MedGen; C0023440.
DR MeSH; D004915.
//
ID Erythropoietic protoporphyria, X-linked dominant.
AC DI-00485
AR XLDPT.
DE A form of porphyria. Porphyrias are inherited defects in the
DE biosynthesis of heme, resulting in the accumulation and increased
DE excretion of porphyrins or porphyrin precursors. They are classified
DE as erythropoietic or hepatic, depending on whether the enzyme
DE deficiency occurs in red blood cells or in the liver. XLDPT is
DE characterized biochemically by a high proportion of zinc-
DE protoporphyrin in erythrocytes, in which a mismatch between
DE protoporphyrin production and the heme requirement of differentiating
DE erythroid cells leads to overproduction of protoporphyrin in amounts
DE sufficient to cause photosensitivity and liver disease.
DR MIM; 300752; phenotype.
DR MedGen; C2677889.
DR MeSH; D046351.
//
ID Esophageal cancer.
AC DI-01537
AR ESCR.
DE A malignancy of the esophagus. The most common types are esophageal
DE squamous cell carcinoma and adenocarcinoma. Cancer of the esophagus
DE remains a devastating disease because it is usually not detected until
DE it has progressed to an advanced incurable stage.
SY Aerodigestive tract cancer.
SY ESCC.
SY Esophageal squamous cell carcinoma.
SY Gastric cardia adenocarcinoma.
DR MIM; 133239; phenotype.
DR MedGen; C0152018.
DR MedGen; C0279626.
DR MedGen; C2751126.
DR MedGen; C3149253.
DR MedGen; C3149254.
DR MedGen; C3149255.
DR MeSH; D004938.
//
ID Essential hypertension.
AC DI-02647
AR EHT.
DE A condition in which blood pressure is consistently higher than normal
DE with no identifiable cause.
DR MIM; 145500; phenotype.
DR MedGen; C0085580.
DR MeSH; D006973.
//
ID Estrogen resistance.
AC DI-03869
AR ESTRR.
DE A disorder characterized by partial or complete resistance to
DE estrogens, in the presence of elevated estrogen serum levels. Clinical
DE features include absence of the pubertal growth spurt, delayed bone
DE maturation, unfused epiphyses, reduced bone mineral density,
DE osteoporosis, continued growth into adulthood and very tall adult
DE stature. Glucose intolerance, hyperinsulinemia and lipid abnormalities
DE may also be present.
SY Estrogen insensitivity.
DR MIM; 615363; phenotype.
DR MedGen; C1851467.
DR MedGen; C3809250.
DR MeSH; D004351.
//
ID Ethylmalonic encephalopathy.
AC DI-01539
AR EE.
DE Autosomal recessive disorder characterized by neurodevelopmental delay
DE and regression, recurrent petechiae, acrocyanosis, diarrhea, leading
DE to death in the first decade of life. It is also associated with
DE persistent lactic acidemia and ethylmalonic and methylsuccinic
DE aciduria.
DR MIM; 602473; phenotype.
DR MedGen; C1865349.
//
ID Even-plus syndrome.
AC DI-04676
AR EVPLS.
DE An autosomal recessive syndrome characterized by epiphyseal and
DE vertebral dysplasia, prenatal-onset short stature, a distinct
DE craniofacial phenotype with microtia, a flat facial profile with flat
DE nose and triangular nares, cardiac malformations, and additional
DE findings such as anal atresia, hypodontia, aplasia cutis, and others.
SY Epiphyseal and vertebral dysplasia, microtia, and flat nose, plus associated malformations.
DR MIM; 616854; phenotype.
DR MedGen; CN235493.
DR MeSH; D000015.
KW KW-0242:Dwarfism.
//
ID Ewing sarcoma.
AC DI-02610
AR ES.
DE A highly malignant, metastatic, primitive small round cell tumor of
DE bone and soft tissue that affects children and adolescents. It belongs
DE to the Ewing sarcoma family of tumors, a group of morphologically
DE heterogeneous neoplasms that share the same cytogenetic features. They
DE are considered neural tumors derived from cells of the neural crest.
DE Ewing sarcoma represents the less differentiated form of the tumors.
SY Askin tumor.
SY ESFT.
SY Ewing's tumor.
SY Ewing sarcoma family of tumors.
SY Extraosseous Ewing tumor.
SY Peripheral neuroepithelioma.
SY PNE.
SY PNET.
SY PNET of the chest wall.
SY Primitive neuroectodermal tumor.
DR MIM; 612219; phenotype.
DR MedGen; C0553580.
DR MedGen; C0684337.
DR MedGen; C0877849.
DR MedGen; C3489398.
DR MeSH; D012512.
//
ID Exercise intolerance, riboflavin-responsive.
AC DI-04667
AR RREI.
DE A riboflavin-responsive form of exercise intolerance, a condition
DE characterized by failure to maintain an expected level of force during
DE sustained or repeated muscle contraction, resulting in an overwhelming
DE sense of tiredness, lack of energy and feeling of exhaustion. RREI
DE transmission pattern is consistent with autosomal recessive
DE inheritance.
DR MIM; 616839; phenotype.
DR MedGen; CN235382.
DR MeSH; D009135.
//
ID Exfoliation syndrome.
AC DI-02667
AR XFS.
DE A disorder characterized by accumulation of abnormal fibrillar
DE deposits in the anterior segment of the eye. In addition to being a
DE cause of glaucoma and glaucomatous optic neuropathy, exfoliation
DE syndrome has also been associated with lens zonule weakness, cataract
DE formation, and systemic vascular complications due to deposition of
DE exfoliation material in extraocular tissues.
SY Exfoliation glaucoma.
SY Exfoliative syndrome.
SY Glaucoma capsulare.
SY PEX.
SY Pseudoexfoliation of the lens.
SY Pseudoexfoliation syndrome.
SY Pseudo-exfoliation syndrome.
SY XFG.
DR MIM; 177650; phenotype.
DR MedGen; C0206368.
DR MeSH; D017889.
KW KW-0955:Glaucoma.
//
ID Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis.
AC DI-01540
AR EPIDACH.
DE Patients present with pancreatic insufficiency, intestinal
DE malabsorption, failure to thrive, and anemia soon after birth.
DR MIM; 612714; phenotype.
DR MedGen; C2675184.
//
ID Extraoral halitosis due to methanethiol oxidase deficiency.
AC DI-05353
AR EHMTO.
DE An autosomal recessive malodor condition characterized by extraoral
DE blood-borne halitosis resulting from the accumulation of sulfur-
DE containing metabolites. In extraoral blood-borne halitosis, malodorant
DE compounds are carried to the lungs, where they enter the breath.
DE Affected individuals have a cabbage-like breath odor, high levels of
DE methanethiol and dimethylsulfide in oral and nasal breath, and
DE elevated urinary excretion of dimethylsulfoxide in the absence of
DE intake of dimethylsulfide-containing food or use of sulfur-containing
DE medication, lower-gastrointestinal problems, and known metabolic
DE defects, such as methionine adenosyltransferase deficiency and
DE tyrosinemia.
SY Extraoral halitosis due to MTO deficiency.
SY Extraoral halitosis with dimethylsulfoxiduria.
SY Methanethiol oxidase deficiency.
SY MTO deficiency.
DR MIM; 618148; phenotype.
DR MedGen; CN257731.
DR MeSH; D006209.
//
ID Fabry disease.
AC DI-01544
AR FD.
DE Rare X-linked sphingolipidosis disease where glycolipid accumulates in
DE many tissues. The disease consists of an inborn error of
DE glycosphingolipid catabolism. FD patients show systemic accumulation
DE of globotriaosylceramide (Gb3) and related glycosphingolipids in the
DE plasma and cellular lysosomes throughout the body. Clinical
DE recognition in males results from characteristic skin lesions
DE (angiokeratomas) over the lower trunk. Patients may show ocular
DE deposits, febrile episodes, and burning pain in the extremities. Death
DE results from renal failure, cardiac or cerebral complications of
DE hypertension or other vascular disease. Heterozygous females may
DE exhibit the disorder in an attenuated form, they are more likely to
DE show corneal opacities.
DR MIM; 301500; phenotype.
DR MedGen; C0002986.
DR MedGen; C1970820.
//
ID Facial clefting, oblique, 1.
AC DI-03222
AR OBLFC1.
DE A rare form of facial clefting. A facial cleft is any of the fissures
DE between the embryonic prominences that normally unite to form the
DE face.
SY Oblique facial cleft.
SY Oculomaxillofacial dysplasia with oblique facial clefts.
SY Orbitofacial cleft.
DR MIM; 600251; phenotype.
DR MedGen; C1838348.
DR MeSH; D019767.
//
ID Facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome.
AC DI-05531
AR FHEIG.
DE An autosomal dominant syndrome characterized by delayed motor and
DE intellectual development, poor speech, seizures, generalized
DE hypertrichosis and facial dysmorphic features, including hypotonic
DE facies, bitemporal narrowing, micrognathia, deep-set eyes, bushy
DE eyebrows and long eyelashes, low-set ears, short deep philtrum,
DE gingival overgrowth, prominent upper and lower vermilion, and everted
DE upper lip.
DR MIM; 618381; phenotype.
DR MedGen; CN258280.
DR MeSH; D000015.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Facial dysmorphism, immunodeficiency, livedo, and short stature.
AC DI-03708
AR FILS.
DE A syndrome characterized by mild facial dysmorphism, mainly malar
DE hypoplasia, livedo on the skin since birth, and immunodeficiency
DE resulting in recurrent infections. Growth impairment is observed
DE during early childhood and results in variable short stature in
DE adulthood.
SY FILS syndrome.
DR MIM; 615139; phenotype.
DR MedGen; C3554576.
DR MedGen; CN168278.
DR MeSH; D006130.
DR MeSH; D007153.
DR MeSH; D019066.
DR MeSH; D054068.
//
ID Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs.
AC DI-04142
AR FDLAB.
DE A syndrome characterized by dislocated crystalline lenses and anterior
DE segment abnormalities in association with a distinctive facies
DE involving flat cheeks and a beaked nose. Some affected individuals
DE develop highly unusual non-traumatic conjunctival cysts (filtering
DE blebs).
SY Ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism.
SY Shawaf-Traboulsi syndrome.
SY Traboulsi syndrome.
DR MIM; 601552; phenotype.
DR MedGen; C1832167.
DR MeSH; D004479.
DR MeSH; D019465.
//
ID Facial palsy, congenital, with ptosis and velopharyngeal dysfunction.
AC DI-05120
AR FPVEPD.
DE An autosomal dominant congenital disorder characterized by non-
DE progressive bilateral facial palsy, velopharyngeal dysfunction
DE presenting with varying degrees of hypomimia, rhinophonia and impaired
DE gag reflex, and bilateral ptosis.
DR MIM; 617732; phenotype.
DR MedGen; CN570508.
DR MeSH; D003389.
//
ID Facial paresis, hereditary congenital, 3.
AC DI-03507
AR HCFP3.
DE A form of facial paresis, a disease characterized by isolated
DE dysfunction of the facial nerve (CN VII). HCFP3 patients are affected
DE by bilateral facial palsy, facial muscle weakness of muscles
DE innervated by CN VII, hearing loss, and strabismus.
DR MIM; 614744; phenotype.
DR MedGen; C3553625.
DR MedGen; CN130589.
DR MeSH; D005158.
//
ID Facioscapulohumeral muscular dystrophy 1.
AC DI-01545
AR FSHD1.
DE A degenerative muscle disease characterized by slowly progressive
DE weakness of the muscles of the face, upper-arm, and shoulder girdle.
DE The onset of symptoms usually occurs in the first or second decade of
DE life. Affected individuals usually present with impairment of upper
DE extremity elevation. This tends to be followed by facial weakness,
DE primarily involving the orbicularis oris and orbicularis oculi
DE muscles.
SY Facioscapulohumeral muscular dystrophy.
SY Facioscapulohumeral muscular dystrophy type 1A.
SY FMD.
SY FSHD.
SY FSHD1A.
SY Landouzy-Dejerine muscular dystrophy.
DR MIM; 158900; phenotype.
DR MedGen; C0238288.
DR MedGen; C1834673.
DR MeSH; D020391.
//
ID Facioscapulohumeral muscular dystrophy 2, digenic.
AC DI-03604
AR FSHD2.
DE A degenerative muscle disease characterized by slowly progressive
DE weakness of the muscles of the face, upper-arm, and shoulder girdle.
DE The onset of symptoms usually occurs in the first or second decade of
DE life. Affected individuals usually present with impairment of upper
DE extremity elevation. This tends to be followed by facial weakness,
DE primarily involving the orbicularis oris and orbicularis oculi
DE muscles.
SY Digenic facioscapulohumeral muscular dystrophy.
SY Digenic FSHD2.
SY Facioscapulohumeral muscular dystrophy type 1B.
SY FSHD1B.
DR MIM; 158901; phenotype.
DR MedGen; C1834671.
DR MeSH; D020391.
//
ID Facioscapulohumeral muscular dystrophy 3, digenic.
AC DI-06196
AR FSHD3.
DE A form of facioscapulohumeral muscular dystrophy, a degenerative
DE muscle disease characterized by slowly progressive weakness of the
DE muscles of the face, upper-arm, and shoulder girdle. FSHD3 is a
DE digenic form characterized by adult onset of proximal muscle weakness
DE affecting the face, neck, scapular muscles, and upper and lower limbs.
DE Muscle involvement is usually asymmetric, and other muscle groups may
DE become involved with progression of the disease.
DR MIM; 619477; phenotype.
DR MedGen; CN301148.
DR MeSH; D020391.
//
ID Facioscapulohumeral muscular dystrophy 4, digenic.
AC DI-06197
AR FSHD4.
DE A digenic form of facioscapulohumeral muscular dystrophy, a
DE degenerative muscle disease characterized by slowly progressive
DE weakness of the muscles of the face, upper-arm, and shoulder girdle.
DE With disease progression, other muscles also may become affected.
DE There is significant clinical variability and incomplete penetrance.
DR MIM; 619478; phenotype.
DR MedGen; CN301149.
DR MeSH; D020391.
//
ID Factor II deficiency.
AC DI-02664
AR FA2D.
DE A very rare blood coagulation disorder characterized by mucocutaneous
DE bleeding symptoms. The severity of the bleeding manifestations
DE correlates with blood factor II levels.
SY Dysprothrombinemia.
SY Hypoprothrombinemia.
SY Prothrombin deficiency.
DR MIM; 613679; phenotype.
DR MedGen; C0020640.
DR MedGen; C0272317.
DR MeSH; D007020.
//
ID Factor V and factor VIII combined deficiency 1.
AC DI-01546
AR F5F8D1.
DE A blood coagulation disorder characterized by bleeding symptoms
DE similar to those in hemophilia or parahemophilia, that are caused by
DE single deficiency of FV or FVIII, respectively. The most common
DE symptoms are epistaxis, menorrhagia, and excessive bleeding during or
DE after trauma. Plasma levels of coagulation factors V and VIII are in
DE the range of 5 to 30% of normal.
SY Familial multiple coagulation factor deficiency I.
SY FMFD1.
SY FMFD I.
SY MCFD1.
SY Multiple coagulation factor deficiency 1.
SY Multiple coagulation factor deficiency I.
DR MIM; 227300; phenotype.
DR MedGen; C1856883.
DR MeSH; D025861.
//
ID Factor V and factor VIII combined deficiency 2.
AC DI-02942
AR F5F8D2.
DE A blood coagulation disorder characterized by bleeding symptoms
DE similar to those in hemophilia or parahemophilia, that are caused by
DE single deficiency of FV or FVIII, respectively. The most common
DE symptoms are epistaxis, menorrhagia, and excessive bleeding during or
DE after trauma. Plasma levels of coagulation factors V and VIII are in
DE the range of 5 to 30% of normal.
SY MCFD2.
SY Multiple coagulation factor deficiency 2.
DR MIM; 613625; phenotype.
DR MedGen; C3150889.
DR MeSH; D025861.
//
ID Factor V deficiency.
AC DI-00486
AR FA5D.
DE A blood coagulation disorder leading to a hemorrhagic diathesis known
DE as parahemophilia.
SY Factor 5 deficiency.
SY Owren disease.
SY Owren parahemophilia.
SY Parahemophilia.
SY Quebec platelet disorder.
DR MIM; 227400; phenotype.
DR MedGen; C0015499.
DR MeSH; D005166.
//
ID Factor VII deficiency.
AC DI-01541
AR FA7D.
DE A hemorrhagic disease with variable presentation. The clinical picture
DE can be very severe, with the early occurrence of intracerebral
DE hemorrhages or repeated hemarthroses, or, in contrast, moderate with
DE cutaneous-mucosal hemorrhages (epistaxis, menorrhagia) or hemorrhages
DE provoked by a surgical intervention. Finally, numerous subjects are
DE completely asymptomatic despite very low factor VII levels.
SY Congenital proconvertin deficiency.
SY F7 deficiency.
SY Factor 7 deficiency.
SY Hypoproconvertinemia.
DR MIM; 227500; phenotype.
DR MedGen; C0015503.
DR MeSH; D005168.
//
ID Factor X deficiency.
AC DI-03028
AR FA10D.
DE A hemorrhagic disease with variable presentation. Affected individuals
DE can manifest prolonged nasal and mucosal hemorrhage, menorrhagia,
DE hematuria, and occasionally hemarthrosis. Some patients do not have
DE clinical bleeding diathesis.
SY F10 deficiency.
SY Factor 10 deficiency.
SY Stuart-Prower factor deficiency.
DR MIM; 227600; phenotype.
DR MedGen; C0015519.
DR MeSH; D005171.
//
ID Factor XI deficiency.
AC DI-01542
AR FA11D.
DE A hemorrhagic disease characterized by reduced levels and activity of
DE factor XI resulting in moderate bleeding symptoms, usually occurring
DE after trauma or surgery. Patients usually do not present spontaneous
DE bleeding but women can present with menorrhagia. Hemorrhages are
DE usually moderate.
SY F11 deficiency.
SY Factor 11 deficiency.
SY Hemophilia C.
SY Plasma thromboplastin antecedent deficiency.
SY PTA deficiency.
SY Rosenthal factor deficiency.
SY Rosenthal syndrome.
DR MIM; 612416; phenotype.
DR MedGen; C0015523.
DR MeSH; D005173.
//
ID Factor XII deficiency.
AC DI-00487
AR FA12D.
DE An asymptomatic anomaly of in vitro blood coagulation. Its diagnosis
DE is based on finding a low plasma activity of the factor in coagulating
DE assays. It is usually only accidentally discovered through pre-
DE operative blood tests. Factor XII deficiency is divided into two
DE categories, a cross-reacting material (CRM)-negative group (negative
DE F12 antigen detection) and a CRM-positive group (positive F12 antigen
DE detection).
SY HAF deficiency.
SY Hageman factor deficiency.
DR MIM; 234000; phenotype.
DR MedGen; C0015526.
DR MeSH; D005175.
//
ID Factor XIII subunit A deficiency.
AC DI-01543
AR FA13AD.
DE An autosomal recessive hematologic disorder characterized by a life-
DE long bleeding tendency, impaired wound healing and spontaneous
DE abortion in affected women.
SY F13 deficiency type 2.
SY Type II F13 deficiency.
DR MIM; 613225; phenotype.
DR MedGen; C2750514.
DR MeSH; D005177.
//
ID Factor XIII subunit B deficiency.
AC DI-02829
AR FA13BD.
DE An autosomal recessive hematologic disorder characterized by a life-
DE long bleeding tendency, impaired wound healing and spontaneous
DE abortion in affected women.
SY F13 deficiency type 1.
SY Type I F13 deficiency.
DR MIM; 613235; phenotype.
DR MedGen; C2750481.
DR MeSH; D005177.
//
ID Familial adenomatous polyposis 1.
AC DI-01547
AR FAP1.
DE An autosomal dominant cancer predisposition syndrome characterized by
DE adenomatous polyps of the colon and rectum, but also of upper
DE gastrointestinal tract (ampullary, duodenal and gastric adenomas).
DE This is a viciously premalignant disease with one or more polyps
DE progressing through dysplasia to malignancy in untreated gene carriers
DE with a median age at diagnosis of 40 years.
SY Adenomatous polyposis of the colon.
SY APC.
SY Familial polyposis of the colon.
SY FPC.
DR MIM; 175100; phenotype.
DR MedGen; C0017097.
DR MedGen; C1868019.
DR MedGen; C2673218.
DR MedGen; C2674616.
DR MedGen; C2713442.
DR MeSH; D011125.
//
ID Familial adenomatous polyposis 2.
AC DI-01228
AR FAP2.
DE A condition characterized by the development of multiple colorectal
DE adenomatous polyps, benign neoplasms derived from glandular
DE epithelium. Some affected individuals may develop colorectal
DE carcinoma.
SY Adenomas multiple colorectal autosomal recessive.
SY Colorectal adenomatous polyposis autosomal recessive.
DR MIM; 608456; phenotype.
DR MedGen; C1837991.
DR MeSH; D018256.
//
ID Familial adenomatous polyposis 3.
AC DI-04455
AR FAP3.
DE A form of familial adenomatous polyposis, a condition characterized by
DE the development of multiple colorectal adenomatous polyps, benign
DE neoplasms derived from glandular epithelium. Some affected individuals
DE may develop colorectal carcinoma.
DR MIM; 616415; phenotype.
DR MedGen; CN231254.
DR MeSH; D018256.
//
ID Familial adenomatous polyposis 4.
AC DI-04840
AR FAP4.
DE A form of familial adenomatous polyposis, a condition characterized by
DE the development of multiple colorectal adenomatous polyps, benign
DE neoplasms derived from glandular epithelium. Some affected individuals
DE may develop colorectal carcinoma. FAP4 inheritance is autosomal
DE recessive.
DR MIM; 617100; phenotype.
DR MedGen; CN238101.
DR MeSH; D018256.
//
ID Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome.
AC DI-01558
AR FAMMMPC.
DE An inherited cancer predisposition syndrome characterized by an
DE increased risk of developing malignant melanoma and/or pancreatic
DE cancer. Mutation carriers within families may develop either or both
DE types of cancer.
SY Melanoma-pancreatic cancer syndrome.
DR MIM; 606719; phenotype.
DR MedGen; C1838547.
DR MeSH; D009386.
//
ID Familial cold autoinflammatory syndrome 1.
AC DI-01561
AR FCAS1.
DE A rare autosomal dominant systemic inflammatory disease characterized
DE by recurrent episodes of maculopapular rash associated with
DE arthralgias, myalgias, fever and chills, swelling of the extremities,
DE and conjunctivitis after generalized exposure to cold. Rarely, some
DE patients may also develop late-onset renal amyloidosis.
SY CAPS1.
SY Cold hypersensitivity.
SY Cryopyrin-associated periodic syndrome 1.
SY Familial cold-induced autoinflammatory syndrome.
SY Familial cold urticaria.
SY FCAS.
SY FCU.
DR MIM; 120100; phenotype.
DR MedGen; C0343068.
DR MeSH; D056587.
//
ID Familial cold autoinflammatory syndrome 2.
AC DI-01562
AR FCAS2.
DE A rare autosomal dominant systemic inflammatory disease characterized
DE by recurrent episodes of maculopapular rash associated with
DE arthralgias, myalgias, fever and chills, swelling of the extremities,
DE and conjunctivitis after generalized exposure to cold.
DR MIM; 611762; phenotype.
DR MedGen; C2673198.
DR MeSH; D056587.
//
ID Familial cold autoinflammatory syndrome 3.
AC DI-03380
AR FCAS3.
DE An autosomal dominant immune disorder characterized by the development
DE of cutaneous urticaria, erythema, and pruritis in response to cold
DE exposure. Affected individuals have variable additional immunologic
DE defects, including antibody deficiency, decreased numbers of B-cells,
DE defective B-cells, increased susceptibility to infection, and
DE increased risk of autoimmune disorders.
SY Antibody deficiency and immune dysregulation PLACG2-associated.
SY FACU.
SY Familial atypical cold urticaria.
SY PLAID.
DR MIM; 614468; phenotype.
DR MedGen; C3280914.
DR MeSH; D056587.
//
ID Familial cold autoinflammatory syndrome 4.
AC DI-04279
AR FCAS4.
DE A form of autoinflammatory syndrome, a rare autosomal dominant
DE systemic disease characterized by recurrent episodes of maculopapular
DE rash associated with arthralgias, myalgias, fever and chills, swelling
DE of the extremities, and conjunctivitis after generalized exposure to
DE cold.
DR MIM; 616115; phenotype.
DR MedGen; CN221665.
DR MeSH; D056587.
//
ID Familial expansile osteolysis.
AC DI-01568
AR FEO.
DE Rare autosomal dominant bone disorder characterized by focal areas of
DE increased bone remodeling. The osteolytic lesions develop usually in
DE the long bones during early adulthood. FEO is often associated with
DE early-onset deafness and loss of dentition.
DR MIM; 174810; phenotype.
DR MedGen; C0432292.
//
ID Familial gestational hyperthyroidism.
AC DI-02821
AR HTFG.
DE A condition characterized by abnormally high levels of serum thyroid
DE hormones occurring during early pregnancy.
DR MIM; 603373; phenotype.
DR MedGen; C1863959.
DR MeSH; D006980.
//
ID Familial hyperinsulinemic hypoglycemia 1.
AC DI-01579
AR HHF1.
DE Most common cause of persistent hypoglycemia in infancy. Unless early
DE and aggressive intervention is undertaken, brain damage from recurrent
DE episodes of hypoglycemia may occur.
SY Congenital hyperinsulinism.
SY Persistent hyperinsulinemic hypoglycemia of infancy.
SY PHHI.
DR MIM; 256450; phenotype.
DR MedGen; C1257959.
//
ID Familial hyperinsulinemic hypoglycemia 2.
AC DI-01580
AR HHF2.
DE Most common cause of persistent hypoglycemia in infancy. Unless early
DE and aggressive intervention is undertaken, brain damage from recurrent
DE episodes of hypoglycemia may occur.
SY Congenital hyperinsulinism.
SY Persistent hyperinsulinemic hypoglycemia of infancy.
SY PHHI.
DR MIM; 601820; phenotype.
DR MedGen; C2931833.
//
ID Familial hyperinsulinemic hypoglycemia 3.
AC DI-01581
AR HHF3.
DE Most common cause of persistent hypoglycemia in infancy. Unless early
DE and aggressive intervention is undertaken, brain damage from recurrent
DE episodes of hypoglycemia may occur.
SY Congenital hyperinsulinism.
SY Persistent hyperinsulinemic hypoglycemia of infancy.
SY PHHI.
DR MIM; 602485; phenotype.
DR MedGen; C1865290.
//
ID Familial hyperinsulinemic hypoglycemia 4.
AC DI-01582
AR HHF4.
DE Most common cause of persistent hypoglycemia in infancy. Unless early
DE and aggressive intervention is undertaken, brain damage from recurrent
DE episodes of hypoglycemia may occur. HHF4 should be easily recognizable
DE by analysis of acylcarnitine species and that this disorder responds
DE well to treatment with diazoxide. It provides the first 'experiment of
DE nature' that links impaired fatty acid oxidation to hyperinsulinism
DE and that provides support for the concept that a lipid signaling
DE pathway is implicated in the control of insulin secretion.
SY Congenital hyperinsulinism.
SY Persistent hyperinsulinemic hypoglycemia of infancy.
SY PHHI.
DR MIM; 609975; phenotype.
DR MedGen; C1864948.
//
ID Familial hyperinsulinemic hypoglycemia 5.
AC DI-01583
AR HHF5.
DE Familial hyperinsulinemic hypoglycemia [MIM:256450], also referred to
DE as congenital hyperinsulinism, nesidioblastosis, or persistent
DE hyperinsulinemic hypoglycemia of infancy (PPHI), is the most common
DE cause of persistent hypoglycemia in infancy and is due to defective
DE negative feedback regulation of insulin secretion by low glucose
DE levels.
SY Congenital hyperinsulinism.
SY Persistent hyperinsulinemic hypoglycemia of infancy.
SY PHHI.
DR MIM; 609968; phenotype.
DR MedGen; C1864952.
//
ID Familial hyperinsulinemic hypoglycemia 6.
AC DI-01769
AR HHF6.
DE Familial hyperinsulinemic hypoglycemia [MIM:256450], also referred to
DE as congenital hyperinsulinism, nesidioblastosis, or persistent
DE hyperinsulinemic hypoglycemia of infancy (PPHI), is the most common
DE cause of persistent hypoglycemia in infancy and is due to defective
DE negative feedback regulation of insulin secretion by low glucose
DE levels. In HHF6 elevated oxidation rate of glutamate to alpha-
DE ketoglutarate stimulates insulin secretion in the pancreatic beta
DE cells, while they impair detoxification of ammonium in the liver.
SY HHS.
SY Hyperinsulinism-hyperammonemia syndrome.
DR MIM; 606762; phenotype.
DR MedGen; C1847555.
//
ID Familial hyperinsulinemic hypoglycemia 7.
AC DI-01584
AR HHF7.
DE Dominantly inherited hypoglycemic disorder characterized by
DE inappropriate insulin secretion during anaerobic exercise or on
DE pyruvate load.
SY Exercise-induced hyperinsulinemic hypoglycemia.
DR MIM; 610021; phenotype.
DR MedGen; C1864902.
//
ID Familial infantile myoclonic epilepsy.
AC DI-02926
AR FIME.
DE A subtype of idiopathic epilepsy starting in early infancy and
DE manifesting as myoclonic seizures, febrile convulsions, and tonic-
DE clonic seizures.
SY EIM.
DR MIM; 605021; phenotype.
DR MedGen; C0917800.
DR MeSH; D004831.
KW KW-0887:Epilepsy.
//
ID Familial male precocious puberty.
AC DI-01592
AR FMPP.
DE In FMPP the receptor is constitutively activated.
SY Testotoxicosis.
DR MIM; 176410; phenotype.
DR MedGen; C0342549.
DR MedGen; C2674612.
//
ID Familial Mediterranean fever, autosomal dominant.
AC DI-00495
AR ADFMF.
DE A hereditary periodic fever syndrome characterized by periodic fever,
DE serosal inflammation and pain in the abdomen, chest or joints as seen
DE also in the autosomal recessive form of the disease. It is associated
DE with reactive renal amyloidosis and characterized by colchicine
DE unresponsiveness.
DR MIM; 134610; phenotype.
DR MedGen; C1851347.
DR MeSH; D010505.
KW KW-1008:Amyloidosis.
//
ID Familial Mediterranean fever, autosomal recessive.
AC DI-00496
AR ARFMF.
DE A hereditary periodic fever syndrome characterized by recurrent
DE episodic fever, serosal inflammation and pain in the abdomen, chest or
DE joints. It is frequently complicated by reactive amyloidosis, which
DE leads to renal failure and can be prophylactically treated with
DE colchicine.
DR MIM; 249100; phenotype.
DR MedGen; C0031069.
DR MeSH; D010505.
KW KW-1008:Amyloidosis.
//
ID Familial multiple endocrine neoplasia type I.
AC DI-01593
AR MEN1.
DE Autosomal dominant disorder characterized by tumors of the parathyroid
DE glands, gastro-intestinal endocrine tissue, the anterior pituitary and
DE other tissues. Cutaneous lesions and nervous-tissue tumors can exist.
DE Prognosis in MEN1 patients is related to hormonal hypersecretion by
DE tumors, such as hypergastrinemia causing severe peptic ulcer disease
DE (Zollinger-Ellison syndrome, ZES), primary hyperparathyroidism, and
DE acute forms of hyperinsulinemia.
DR MIM; 131100; phenotype.
DR MedGen; C0025267.
DR MedGen; C3149237.
//
ID Familial non-Hodgkin lymphoma.
AC DI-01594
AR NHL.
DE Cancer that starts in cells of the lymph system, which is part of the
DE body's immune system. NHLs can occur at any age and are often marked
DE by enlarged lymph nodes, fever and weight loss.
DR MIM; 605027; phenotype.
DR MedGen; C0024305.
//
ID Familial paroxysmal ventricular fibrillation 1.
AC DI-01808
AR VF1.
DE A cardiac arrhythmia marked by fibrillary contractions of the
DE ventricular muscle due to rapid repetitive excitation of myocardial
DE fibers without coordinated contraction of the ventricle and by absence
DE of atrial activity.
SY IVF.
SY Susceptibility to ventricular fibrillation during myocardial infarction.
SY Ventricular fibrillation, paroxysmal familial, 1.
SY VF.
DR MIM; 603829; phenotype.
DR MedGen; C2751898.
DR MeSH; D014693.
//
ID Familial paroxysmal ventricular fibrillation 2.
AC DI-02563
AR VF2.
DE A cardiac arrhythmia marked by fibrillary contractions of the
DE ventricular muscle due to rapid repetitive excitation of myocardial
DE fibers without coordinated contraction of the ventricle and by absence
DE of atrial activity.
DR MIM; 612956; phenotype.
DR MedGen; C2751829.
DR MeSH; D014693.
//
ID Familial platelet disorder with associated myeloid malignancy.
AC DI-01597
AR FPDMM.
DE Autosomal dominant disease characterized by qualitative and
DE quantitative platelet defects, and propensity to develop acute
DE myelogenous leukemia.
DR MIM; 601399; phenotype.
DR MedGen; C1832388.
//
ID Familial porphyria cutanea tarda.
AC DI-00497
AR FPCT.
DE A form of porphyria. Porphyrias are inherited defects in the
DE biosynthesis of heme, resulting in the accumulation and increased
DE excretion of porphyrins or porphyrin precursors. They are classified
DE as erythropoietic or hepatic, depending on whether the enzyme
DE deficiency occurs in red blood cells or in the liver. Familial
DE porphyria cutanea tarda is an autosomal dominant disorder
DE characterized by light-sensitive dermatitis, with onset in later life.
DE It is associated with the excretion of large amounts of uroporphyrin
DE in the urine. Iron overload is often present in association with
DE varying degrees of liver damage.
SY PCT type II.
SY Porphyria cutanea tarda type II.
SY Porphyria hepatocutaneous type.
SY UROD deficiency.
SY Uroporphyrinogen decarboxylase deficiency.
DR MIM; 176100; phenotype.
DR MedGen; C0268323.
DR MeSH; D017119.
//
ID Familial scaphocephaly syndrome.
AC DI-00498
AR FSPC.
DE An autosomal dominant craniosynostosis syndrome characterized by
DE scaphocephaly, macrocephaly, hypertelorism, maxillary retrusion, and
DE mild intellectual disability. Scaphocephaly is the most common of the
DE craniosynostosis conditions and is characterized by a long, narrow
DE head. It is due to premature fusion of the sagittal suture or from
DE external deformation.
DR MIM; 609579; phenotype.
DR MedGen; C1865070.
DR MeSH; D003398.
KW KW-0989:Craniosynostosis.
KW KW-0991:Intellectual disability.
//
ID Familial spinal neurofibromatosis.
AC DI-01598
AR FSNF.
DE Considered to be an alternative form of neurofibromatosis, showing
DE multiple spinal tumors.
DR MIM; 162210; phenotype.
DR MedGen; C1834235.
//
ID Fanconi anemia complementation group B.
AC DI-01600
AR FANCB.
DE A disorder affecting all bone marrow elements and resulting in anemia,
DE leukopenia and thrombopenia. It is associated with cardiac, renal and
DE limb malformations, dermal pigmentary changes, and a predisposition to
DE the development of malignancies. At the cellular level it is
DE associated with hypersensitivity to DNA-damaging agents, chromosomal
DE instability (increased chromosome breakage) and defective DNA repair.
DE Some severe FANCB cases manifest features of VACTERL syndrome with
DE hydrocephalus.
SY FA2.
SY Fanconi pancytopenia type 2.
DR MIM; 300514; phenotype.
DR MedGen; C1845292.
DR MeSH; D005199.
KW KW-0923:Fanconi anemia.
//
ID Fanconi anemia complementation group C.
AC DI-03112
AR FANCC.
DE A disorder affecting all bone marrow elements and resulting in anemia,
DE leukopenia and thrombopenia. It is associated with cardiac, renal and
DE limb malformations, dermal pigmentary changes, and a predisposition to
DE the development of malignancies. At the cellular level it is
DE associated with hypersensitivity to DNA-damaging agents, chromosomal
DE instability (increased chromosome breakage) and defective DNA repair.
SY FA3.
SY FAC.
SY FACC.
SY Fanconi pancytopenia type 3.
DR MIM; 227645; phenotype.
DR MedGen; C3468041.
DR MeSH; D005199.
KW KW-0923:Fanconi anemia.
//
ID Fanconi anemia complementation group D1.
AC DI-01601
AR FANCD1.
DE A disorder affecting all bone marrow elements and resulting in anemia,
DE leukopenia and thrombopenia. It is associated with cardiac, renal and
DE limb malformations, dermal pigmentary changes, and a predisposition to
DE the development of malignancies. At the cellular level it is
DE associated with hypersensitivity to DNA-damaging agents, chromosomal
DE instability (increased chromosome breakage) and defective DNA repair.
SY FAD1.
DR MIM; 605724; phenotype.
DR MedGen; C1838457.
DR MeSH; D005199.
KW KW-0923:Fanconi anemia.
//
ID Fanconi anemia complementation group D2.
AC DI-02763
AR FANCD2.
DE A disorder affecting all bone marrow elements and resulting in anemia,
DE leukopenia and thrombopenia. It is associated with cardiac, renal and
DE limb malformations, dermal pigmentary changes, and a predisposition to
DE the development of malignancies. At the cellular level it is
DE associated with hypersensitivity to DNA-damaging agents, chromosomal
DE instability (increased chromosome breakage) and defective DNA repair.
SY FA4.
SY FACD.
SY FAD2.
SY FANCD.
SY Fanconi anemia complementation group D.
SY Fanconi pancytopenia type 4.
DR MIM; 227646; phenotype.
DR MedGen; C3160738.
DR MeSH; D005199.
KW KW-0923:Fanconi anemia.
//
ID Fanconi anemia complementation group E.
AC DI-03117
AR FANCE.
DE A disorder affecting all bone marrow elements and resulting in anemia,
DE leukopenia and thrombopenia. It is associated with cardiac, renal and
DE limb malformations, dermal pigmentary changes, and a predisposition to
DE the development of malignancies. At the cellular level it is
DE associated with hypersensitivity to DNA-damaging agents, chromosomal
DE instability (increased chromosome breakage) and defective DNA repair.
DR MIM; 600901; phenotype.
DR MedGen; C3160739.
DR MeSH; D005199.
KW KW-0923:Fanconi anemia.
//
ID Fanconi anemia complementation group F.
AC DI-03058
AR FANCF.
DE A disorder affecting all bone marrow elements and resulting in anemia,
DE leukopenia and thrombopenia. It is associated with cardiac, renal and
DE limb malformations, dermal pigmentary changes, and a predisposition to
DE the development of malignancies. At the cellular level it is
DE associated with hypersensitivity to DNA-damaging agents, chromosomal
DE instability (increased chromosome breakage) and defective DNA repair.
DR MIM; 603467; phenotype.
DR MedGen; CN068975.
DR MeSH; D005199.
KW KW-0923:Fanconi anemia.
//
ID Fanconi anemia complementation group G.
AC DI-03136
AR FANCG.
DE A disorder affecting all bone marrow elements and resulting in anemia,
DE leukopenia and thrombopenia. It is associated with cardiac, renal and
DE limb malformations, dermal pigmentary changes, and a predisposition to
DE the development of malignancies. At the cellular level it is
DE associated with hypersensitivity to DNA-damaging agents, chromosomal
DE instability (increased chromosome breakage) and defective DNA repair.
DR MIM; 614082; phenotype.
DR MedGen; CN069000.
DR MeSH; D005199.
KW KW-0923:Fanconi anemia.
//
ID Fanconi anemia complementation group I.
AC DI-01602
AR FANCI.
DE A disorder affecting all bone marrow elements and resulting in anemia,
DE leukopenia and thrombopenia. It is associated with cardiac, renal and
DE limb malformations, dermal pigmentary changes, and a predisposition to
DE the development of malignancies. At the cellular level it is
DE associated with hypersensitivity to DNA-damaging agents, chromosomal
DE instability (increased chromosome breakage) and defective DNA repair.
DR MIM; 609053; phenotype.
DR MedGen; C1836861.
DR MeSH; D005199.
KW KW-0923:Fanconi anemia.
//
ID Fanconi anemia complementation group J.
AC DI-01603
AR FANCJ.
DE A disorder affecting all bone marrow elements and resulting in anemia,
DE leukopenia and thrombopenia. It is associated with cardiac, renal and
DE limb malformations, dermal pigmentary changes, and a predisposition to
DE the development of malignancies. At the cellular level it is
DE associated with hypersensitivity to DNA-damaging agents, chromosomal
DE instability (increased chromosome breakage) and defective DNA repair.
DR MIM; 609054; phenotype.
DR MedGen; C1836860.
DR MeSH; D005199.
KW KW-0923:Fanconi anemia.
//
ID Fanconi anemia complementation group L.
AC DI-03153
AR FANCL.
DE A disorder affecting all bone marrow elements and resulting in anemia,
DE leukopenia and thrombopenia. It is associated with cardiac, renal and
DE limb malformations, dermal pigmentary changes, and a predisposition to
DE the development of malignancies. At the cellular level it is
DE associated with hypersensitivity to DNA-damaging agents, chromosomal
DE instability (increased chromosome breakage) and defective DNA repair.
DR MIM; 614083; phenotype.
DR MedGen; CN068553.
DR MeSH; D005199.
KW KW-0923:Fanconi anemia.
//
ID Fanconi anemia complementation group N.
AC DI-01604
AR FANCN.
DE A disorder affecting all bone marrow elements and resulting in anemia,
DE leukopenia and thrombopenia. It is associated with cardiac, renal and
DE limb malformations, dermal pigmentary changes, and a predisposition to
DE the development of malignancies. At the cellular level it is
DE associated with hypersensitivity to DNA-damaging agents, chromosomal
DE instability (increased chromosome breakage) and defective DNA repair.
DR MIM; 610832; phenotype.
DR MedGen; C1835817.
DR MeSH; D005199.
KW KW-0923:Fanconi anemia.
//
ID Fanconi anemia complementation group O.
AC DI-02852
AR FANCO.
DE A disorder affecting all bone marrow elements and resulting in anemia,
DE leukopenia and thrombopenia. It is associated with cardiac, renal and
DE limb malformations, dermal pigmentary changes, and a predisposition to
DE the development of malignancies. At the cellular level it is
DE associated with hypersensitivity to DNA-damaging agents, chromosomal
DE instability (increased chromosome breakage) and defective DNA repair.
DR MIM; 613390; phenotype.
DR MedGen; C3150653.
DR MeSH; D005199.
KW KW-0923:Fanconi anemia.
//
ID Fanconi anemia complementation group P.
AC DI-03118
AR FANCP.
DE A disorder affecting all bone marrow elements and resulting in anemia,
DE leukopenia and thrombopenia. It is associated with cardiac, renal and
DE limb malformations, dermal pigmentary changes, and a predisposition to
DE the development of malignancies. At the cellular level it is
DE associated with hypersensitivity to DNA-damaging agents, chromosomal
DE instability (increased chromosome breakage) and defective DNA repair.
DE Some individuals affected by Fanconi anemia of complementation group P
DE have skeletal anomalies.
DR MIM; 613951; phenotype.
DR MedGen; CN077628.
DR MeSH; D005199.
KW KW-0923:Fanconi anemia.
//
ID Fanconi anemia complementation group Q.
AC DI-03812
AR FANCQ.
DE A disorder affecting all bone marrow elements and resulting in anemia,
DE leukopenia and thrombopenia. It is associated with cardiac, renal and
DE limb malformations, dermal pigmentary changes, and a predisposition to
DE the development of malignancies. At the cellular level it is
DE associated with hypersensitivity to DNA-damaging agents, chromosomal
DE instability (increased chromosome breakage) and defective DNA repair.
DR MIM; 615272; phenotype.
DR MedGen; C3808988.
DR MedGen; CN177724.
DR MeSH; D005199.
KW KW-0923:Fanconi anemia.
//
ID Fanconi anemia complementation group T.
AC DI-04462
AR FANCT.
DE A disorder affecting all bone marrow elements and resulting in anemia,
DE leukopenia and thrombopenia. It is associated with cardiac, renal and
DE limb malformations, dermal pigmentary changes, and a predisposition to
DE the development of malignancies. At the cellular level it is
DE associated with hypersensitivity to DNA-damaging agents, chromosomal
DE instability (increased chromosome breakage) and defective DNA repair.
DR MIM; 616435; phenotype.
DR MedGen; CN231325.
DR MeSH; D005199.
KW KW-0923:Fanconi anemia.
//
ID Fanconi anemia, complementation group A.
AC DI-01599
AR FANCA.
DE A disorder affecting all bone marrow elements and resulting in anemia,
DE leukopenia and thrombopenia. It is associated with cardiac, renal and
DE limb malformations, dermal pigmentary changes, and a predisposition to
DE the development of malignancies. At the cellular level it is
DE associated with hypersensitivity to DNA-damaging agents, chromosomal
DE instability (increased chromosome breakage) and defective DNA repair.
SY Estren-Dameshek variant of Fanconi anemia.
SY Estren-Dameshek variant of Fanconi pancytopenia.
SY FA.
SY Fanconi anemia.
SY Fanconi anemia Estren-Dameshek variant.
DR MIM; 227650; phenotype.
DR MedGen; C0015625.
DR MedGen; C1856796.
DR MedGen; C1856797.
DR MedGen; C3469521.
DR MeSH; D005199.
KW KW-0923:Fanconi anemia.
//
ID Fanconi anemia, complementation group R.
AC DI-04906
AR FANCR.
DE A disorder affecting all bone marrow elements and resulting in anemia,
DE leukopenia and thrombopenia. It is associated with cardiac, renal and
DE limb malformations, dermal pigmentary changes, and a predisposition to
DE the development of malignancies. At the cellular level it is
DE associated with hypersensitivity to DNA-damaging agents, chromosomal
DE instability (increased chromosome breakage) and defective DNA repair.
DR MIM; 617244; phenotype.
DR MedGen; CN239562.
DR MeSH; D005199.
KW KW-0923:Fanconi anemia.
//
ID Fanconi anemia, complementation group S.
AC DI-05209
AR FANCS.
DE A form of Fanconi anemia, a disorder affecting all bone marrow
DE elements and resulting in anemia, leukopenia and thrombopenia. It is
DE associated with cardiac, renal and limb malformations, dermal
DE pigmentary changes, and a predisposition to the development of
DE malignancies. At the cellular level it is associated with
DE hypersensitivity to DNA-damaging agents, chromosomal instability
DE (increased chromosome breakage) and defective DNA repair.
DR MIM; 617883; phenotype.
DR MedGen; CN850168.
DR MeSH; D005199.
KW KW-0923:Fanconi anemia.
//
ID Fanconi anemia, complementation group U.
AC DI-04905
AR FANCU.
DE A disorder affecting all bone marrow elements and resulting in anemia,
DE leukopenia and thrombopenia. It is associated with cardiac, renal and
DE limb malformations, dermal pigmentary changes, and a predisposition to
DE the development of malignancies. At the cellular level it is
DE associated with hypersensitivity to DNA-damaging agents, chromosomal
DE instability (increased chromosome breakage) and defective DNA repair.
DR MIM; 617247; phenotype.
DR MedGen; CN239559.
DR MeSH; D005199.
KW KW-0923:Fanconi anemia.
//
ID Fanconi anemia, complementation group V.
AC DI-04907
AR FANCV.
DE A disorder affecting all bone marrow elements and resulting in anemia,
DE leukopenia and thrombopenia. It is associated with cardiac, renal and
DE limb malformations, dermal pigmentary changes, and a predisposition to
DE the development of malignancies. At the cellular level it is
DE associated with hypersensitivity to DNA-damaging agents, chromosomal
DE instability (increased chromosome breakage) and defective DNA repair.
DR MIM; 617243; phenotype.
DR MedGen; CN239561.
DR MeSH; D005199.
KW KW-0923:Fanconi anemia.
//
ID Fanconi anemia, complementation group W.
AC DI-05128
AR FANCW.
DE A form of Fanconi anemia, a disorder affecting all bone marrow
DE elements and resulting in anemia, leukopenia and thrombopenia. It is
DE associated with cardiac, renal and limb malformations, dermal
DE pigmentary changes, and a predisposition to the development of
DE malignancies. At the cellular level it is associated with
DE hypersensitivity to DNA-damaging agents, chromosomal instability
DE (increased chromosome breakage) and defective DNA repair.
DR MIM; 617784; phenotype.
DR MedGen; CN653907.
DR MeSH; D005199.
KW KW-0923:Fanconi anemia.
//
ID Fanconi renotubular syndrome 1.
AC DI-05857
AR FRTS1.
DE A form of Fanconi renotubular syndrome, a disease due to a generalized
DE dysfunction of the proximal kidney tubule resulting in decreased
DE solute and water reabsorption. Patients have polydipsia and polyuria
DE with phosphaturia, glycosuria and aminoaciduria. They may develop
DE hypophosphatemic rickets or osteomalacia, acidosis and a tendency
DE toward dehydration. Some eventually develop renal insufficiency. FRTS1
DE inheritance is autosomal dominant.
SY Adult Fanconi syndrome.
SY Fanconi renotubular syndrome.
SY Fanconi syndrome without cystinosis.
SY FRTS.
SY Luder-Sheldon syndrome.
SY Renal Fanconi syndrome.
SY RFS.
DR MIM; 134600; phenotype.
DR MedGen; C0341703.
DR MedGen; C4551503.
DR MeSH; D005198.
//
ID Fanconi renotubular syndrome 2.
AC DI-02851
AR FRTS2.
DE A form of Fanconi renotubular syndrome, a disease due to a generalized
DE dysfunction of the proximal kidney tubule resulting in decreased
DE solute and water reabsorption. Patients have polydipsia and polyuria
DE with phosphaturia, glycosuria and aminoaciduria. They may develop
DE hypophosphatemic rickets or osteomalacia, acidosis and a tendency
DE toward dehydration. Some eventually develop renal insufficiency. FRTS2
DE inheritance is autosomal recessive.
DR MIM; 613388; phenotype.
DR MedGen; C3150652.
DR MeSH; D005198.
//
ID Fanconi renotubular syndrome 3.
AC DI-03997
AR FRTS3.
DE A form of Fanconi renotubular syndrome, a disease due to a generalized
DE dysfunction of the proximal kidney tubule resulting in decreased
DE solute and water reabsorption. Patients have polydipsia and polyuria
DE with phosphaturia, glycosuria and aminoaciduria. They may develop
DE hypophosphatemic rickets or osteomalacia, acidosis and a tendency
DE toward dehydration. Some eventually develop renal insufficiency. FRTS3
DE inheritance is autosomal dominant.
DR MIM; 615605; phenotype.
DR MedGen; C3810100.
DR MedGen; CN183736.
DR MeSH; D005198.
//
ID Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young.
AC DI-04230
AR FRTS4.
DE An autosomal dominant disease characterized by Fanconi syndrome
DE associated with a beta cell phenotype of neonatal hyperinsulinism with
DE macrosomia and young onset diabetes. Fanconi syndrome is a proximal
DE tubulopathy resulting in generalized aminoaciduria, low molecular
DE weight proteinuria, glycosuria, hyperphosphaturia and hypouricemia.
DE Some FRTS4 patients have nephrocalcinosis, renal impairment,
DE hypercalciuria with relative hypocalcemia, and hypermagnesemia.
SY FRTS4 with MODY.
DR MIM; 616026; phenotype.
DR MedGen; CN219570.
DR MeSH; D003924.
DR MeSH; D005198.
KW KW-0219:Diabetes mellitus.
//
ID Fanconi renotubular syndrome 5.
AC DI-05856
AR FRTS5.
DE A form of Fanconi renotubular syndrome, a disease due to a generalized
DE dysfunction of the proximal kidney tubule resulting in decreased
DE solute and water reabsorption. Patients have polydipsia and polyuria
DE with phosphaturia, glycosuria and aminoaciduria. They may develop
DE hypophosphatemic rickets or osteomalacia, acidosis and a tendency
DE toward dehydration. Some eventually develop renal insufficiency. FRTS5
DE is an autosomal recessive mitochondrial disorder characterized by
DE proximal renotubular dysfunction from birth, followed by progressive
DE kidney disease and pulmonary fibrosis.
SY Fanconi renotubular syndrome, Acadian variant.
DR MIM; 618913; phenotype.
DR MedGen; CN282533.
DR MeSH; D005198.
//
ID Fanconi-Bickel syndrome.
AC DI-01605
AR FBS.
DE Rare, well-defined clinical entity, inherited in an autosomal
DE recessive mode and characterized by hepatorenal glycogen accumulation,
DE proximal renal tubular dysfunction, and impaired utilization of
DE glucose and galactose.
SY Fanconi syndrome with intestinal malabsorption and galactose intolerance.
SY Glycogenosis Fanconi type.
SY Glycogen storage disease XI.
SY Hepatic glycogenosis with amino aciduria and glucosuria.
SY Hepatic glycogenosis with Fanconi nephropathy.
SY Hepatorenal glycogenosis with renal Fanconi syndrome.
SY Pseudo-phlorizin diabetes.
DR MIM; 227810; phenotype.
DR MedGen; C3495427.
DR MeSH; D006008.
//
ID Farber lipogranulomatosis.
AC DI-01606
AR FRBRL.
DE An autosomal recessive lysosomal storage disorder characterized by
DE subcutaneous lipid-loaded nodules, excruciating pain in the joints and
DE extremities, and marked accumulation of ceramide in lysosomes. Disease
DE severity is variable. The most severe disease subtype is a rare
DE neonatal form with death occurring before 1 year of age.
SY AC deficiency.
SY Acid ceramidase deficiency.
SY Ceramidase deficiency.
SY Farber disease.
SY N-laurylsphingosine deacylase deficiency.
DR MIM; 228000; phenotype.
DR MedGen; C0268255.
DR MeSH; D055577.
//
ID Fatal familial insomnia.
AC DI-01607
AR FFI.
DE Autosomal dominant disorder and is characterized by neuronal
DE degeneration limited to selected thalamic nuclei and progressive
DE insomnia.
DR MIM; 600072; phenotype.
DR MedGen; C0206042.
//
ID Faundes-Banka syndrome.
AC DI-06142
AR FABAS.
DE An autosomal dominant disorder characterized by variable combinations
DE of developmental delay, microcephaly, micrognathia and dysmorphic
DE features.
DR MIM; 619376; phenotype.
DR MedGen; CN297085.
DR MeSH; D065886.
//
ID Fazio-Londe disease.
AC DI-03010
AR FALOND.
DE A rare neurological disease characterized by progressive weakness of
DE the muscles innervated by cranial nerves of the lower brain stem. It
DE may present in childhood with severe neurological deterioration with
DE hypotonia, respiratory insufficiency leading to premature death, or
DE later in life with bulbar weakness which progresses to involve motor
DE neurons throughout the neuroaxis. Clinical manifestations include
DE dysarthria, dysphagia, facial weakness, tongue weakness, and
DE fasciculations of the tongue and facial muscles.
SY Bulbar palsy progressive of childhood.
SY Fazio-Londe syndrome.
DR MIM; 211500; phenotype.
DR MedGen; C0015708.
DR MedGen; C0393540.
DR MeSH; D010244.
//
ID Febrile seizures, familial, 11.
AC DI-03335
AR FEB11.
DE Seizures associated with febrile episodes in childhood without any
DE evidence of intracranial infection or defined pathologic or traumatic
DE cause. It is a common condition, affecting 2-5% of children aged 3
DE months to 5 years. The majority are simple febrile seizures (generally
DE defined as generalized onset, single seizures with a duration of less
DE than 30 minutes). Complex febrile seizures are characterized by focal
DE onset, duration greater than 30 minutes, and/or more than one seizure
DE in a 24 hour period. The likelihood of developing epilepsy following
DE simple febrile seizures is low. Complex febrile seizures are
DE associated with a moderately increased incidence of epilepsy.
SY Familial febrile convulsions 11.
DR MIM; 614418; phenotype.
DR MedGen; C3280734.
DR MeSH; D003294.
//
ID Febrile seizures, familial, 2.
AC DI-06236
AR FEB2.
DE Seizures associated with febrile episodes in childhood without any
DE evidence of intracranial infection or defined pathologic or traumatic
DE cause. It is a common condition, affecting 2-5% of children aged 3
DE months to 5 years. The majority are simple febrile seizures (generally
DE defined as generalized onset, single seizures with a duration of less
DE than 30 minutes). Complex febrile seizures are characterized by focal
DE onset, duration greater than 30 minutes, and/or more than one seizure
DE in a 24 hour period. The likelihood of developing epilepsy following
DE simple febrile seizures is low. Complex febrile seizures are
DE associated with a moderately increased incidence of epilepsy. FEB2
DE transmission pattern is consistent with autosomal dominant
DE inheritance.
DR MIM; 602477; phenotype.
DR MedGen; C1865342.
DR MeSH; D003294.
//
ID Febrile seizures, familial, 3A.
AC DI-00488
AR FEB3A.
DE Seizures associated with febrile episodes in childhood without any
DE evidence of intracranial infection or defined pathologic or traumatic
DE cause. It is a common condition, affecting 2-5% of children aged 3
DE months to 5 years. The majority are simple febrile seizures (generally
DE defined as generalized onset, single seizures with a duration of less
DE than 30 minutes). Complex febrile seizures are characterized by focal
DE onset, duration greater than 30 minutes, and/or more than one seizure
DE in a 24 hour period. The likelihood of developing epilepsy following
DE simple febrile seizures is low. Complex febrile seizures are
DE associated with a moderately increased incidence of epilepsy.
SY Familial febrile convulsions 3.
DR MIM; 604403; phenotype.
DR MedGen; C2751756.
DR MeSH; D003294.
//
ID Febrile seizures, familial, 3B.
AC DI-02932
AR FEB3B.
DE Seizures associated with febrile episodes in childhood without any
DE evidence of intracranial infection or defined pathologic or traumatic
DE cause. It is a common condition, affecting 2-5% of children aged 3
DE months to 5 years. The majority are simple febrile seizures (generally
DE defined as generalized onset, single seizures with a duration of less
DE than 30 minutes). Complex febrile seizures are characterized by focal
DE onset, duration greater than 30 minutes, and/or more than one seizure
DE in a 24 hour period. The likelihood of developing epilepsy following
DE simple febrile seizures is low. Complex febrile seizures are
DE associated with a moderately increased incidence of epilepsy.
SY Familial febrile convulsions 3.
DR MIM; 613863; phenotype.
DR MedGen; C0009952.
DR MedGen; C3151229.
DR MeSH; D003294.
//
ID Febrile seizures, familial, 4.
AC DI-00489
AR FEB4.
DE Seizures associated with febrile episodes in childhood without any
DE evidence of intracranial infection or defined pathologic or traumatic
DE cause. It is a common condition, affecting 2-5% of children aged 3
DE months to 5 years. The majority are simple febrile seizures (generally
DE defined as generalized onset, single seizures with a duration of less
DE than 30 minutes). Complex febrile seizures are characterized by focal
DE onset, duration greater than 30 minutes, and/or more than one seizure
DE in a 24 hour period. The likelihood of developing epilepsy following
DE simple febrile seizures is low. Complex febrile seizures are
DE associated with a moderately increased incidence of epilepsy.
SY Familial febrile convulsions 4.
DR MIM; 604352; phenotype.
DR MedGen; C1858493.
DR MeSH; D003294.
//
ID Febrile seizures, familial, 8.
AC DI-00490
AR FEB8.
DE Seizures associated with febrile episodes in childhood without any
DE evidence of intracranial infection or defined pathologic or traumatic
DE cause. It is a common condition, affecting 2-5% of children aged 3
DE months to 5 years. The majority are simple febrile seizures (generally
DE defined as generalized onset, single seizures with a duration of less
DE than 30 minutes). Complex febrile seizures are characterized by focal
DE onset, duration greater than 30 minutes, and/or more than one seizure
DE in a 24 hour period. The likelihood of developing epilepsy following
DE simple febrile seizures is low. Complex febrile seizures are
DE associated with a moderately increased incidence of epilepsy.
SY Familial febrile convulsions 8.
DR MIM; 607681; phenotype.
DR MedGen; C1969810.
DR MeSH; D003294.
//
ID Feingold syndrome 1.
AC DI-01612
AR FGLDS1.
DE A syndrome characterized by variable combinations of esophageal and
DE duodenal atresias, microcephaly, learning disability, intellectual
DE disability, and limb malformations. Hand and foot abnormalities may
DE include hypoplastic thumbs, clinodactyly of second and fifth fingers,
DE syndactyly (characteristically between second and third and fourth and
DE fifth toes), and shortened or absent middle phalanges. Cardiac and
DE renal malformations, vertebral anomalies, and deafness have also been
DE described.
SY Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum.
SY Microcephaly-oculo-digito-esophageal-duodenal syndrome.
SY MMT syndrome.
SY MODED.
SY Oculodigitoesophagoduodenal syndrome.
SY ODED.
DR MIM; 164280; phenotype.
DR MedGen; C0796068.
DR MeSH; D004380.
DR MeSH; D004933.
DR MeSH; D008831.
DR MeSH; D017880.
//
ID Feingold syndrome 2.
AC DI-03283
AR FGLDS2.
DE A syndrome characterized by microcephaly, short stature, and digital
DE abnormalities including brachydactyly, brachymesophalangy of the
DE second and fifth fingers, hypoplastic thumbs of variable severity, and
DE cutaneous syndactyly of the toes.
SY Brachydactyly with short stature and microcephaly.
DR MIM; 614326; phenotype.
DR MedGen; C3280489.
DR MeSH; D008831.
DR MeSH; D017880.
//
ID Ferguson-Bonni neurodevelopmental syndrome.
AC DI-06315
AR FERBON.
DE An autosomal recessive disorder characterized by global developmental
DE delay, impaired intellectual development, and hypotonia with early
DE motor delay. Additional features may include dysmorphic facies, mild
DE skeletal abnormalities, and hearing loss.
DR MIM; 619699; phenotype.
DR MedGen; CN305921.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Fetal akinesia deformation sequence 1.
AC DI-01615
AR FADS1.
DE A clinically and genetically heterogeneous group of disorders with
DE congenital malformations related to impaired fetal movement. Clinical
DE features include fetal akinesia, intrauterine growth retardation,
DE polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial
DE abnormalities, and cryptorchidism. FADS1 inheritance is autosomal
DE recessive.
SY Arthrogryposis multiplex congenita with pulmonary hypoplasia.
SY FADS.
SY Fetal akinesia deformation sequence.
SY Fetal akinesia sequence.
SY Pena-Shokeir syndrome type 1.
DR MIM; 208150; phenotype.
DR MedGen; C1276035.
DR MeSH; D001176.
DR MeSH; D005317.
//
ID Fetal akinesia deformation sequence 2.
AC DI-05535
AR FADS2.
DE A clinically and genetically heterogeneous group of disorders with
DE congenital malformations related to impaired fetal movement. Clinical
DE features include fetal akinesia, intrauterine growth retardation,
DE polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial
DE abnormalities, and cryptorchidism. FADS2 inheritance is autosomal
DE recessive.
DR MIM; 618388; phenotype.
DR MedGen; CN258279.
DR MeSH; D001176.
DR MeSH; D005317.
//
ID Fetal akinesia deformation sequence 3.
AC DI-05536
AR FADS3.
DE A clinically and genetically heterogeneous group of disorders with
DE congenital malformations related to impaired fetal movement. Clinical
DE features include fetal akinesia, intrauterine growth retardation,
DE polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial
DE abnormalities, and cryptorchidism. FADS3 inheritance is autosomal
DE recessive.
DR MIM; 618389; phenotype.
DR MedGen; CN258277.
DR MeSH; D001176.
DR MeSH; D005317.
//
ID Fetal akinesia deformation sequence 4.
AC DI-05537
AR FADS4.
DE A clinically and genetically heterogeneous group of disorders with
DE congenital malformations related to impaired fetal movement. Clinical
DE features include fetal akinesia, intrauterine growth retardation,
DE polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial
DE abnormalities, and cryptorchidism. FADS4 inheritance is autosomal
DE recessive.
DR MIM; 618393; phenotype.
DR MedGen; CN258290.
DR MeSH; D001176.
DR MeSH; D005317.
//
ID Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies.
AC DI-06263
AR FARIMPD.
DE An autosomal recessive disease characterized by fetal akinesia, and
DE generalized joint contractures and arthrogryposis at birth. Affected
DE newborns have severe respiratory insufficiency and significant
DE dysmorphic facial features. Malformations of cortical development are
DE seen on brain imaging, most commonly polymicrogyria or other gyral
DE anomalies. Death usually occurs in infancy.
DR MIM; 619602; phenotype.
DR MedGen; CN301231.
DR MeSH; D000013.
//
ID FG syndrome 2.
AC DI-01616
AR FGS2.
DE FG syndrome (FGS) is an X-linked disorder characterized by
DE intellectual disability, relative macrocephaly, hypotonia and
DE constipation.
DR MIM; 300321; phenotype.
DR MedGen; C1845902.
//
ID FG syndrome 4.
AC DI-01617
AR FGS4.
DE FG syndrome (FGS) is an X-linked disorder characterized by
DE intellectual disability, relative macrocephaly, hypotonia and
DE constipation.
DR MIM; 300422; phenotype.
DR MedGen; C1845546.
DR MedGen; C3275356.
//
ID Fibrochondrogenesis 1.
AC DI-03132
AR FBCG1.
DE A severe short-limbed skeletal dysplasia characterized by broad long-
DE bone metaphyses, pear-shaped vertebral bodies, and characteristic
DE morphology of the growth plate, in which the chondrocytes have a
DE fibroblastic appearance and there are regions of fibrous cartilage
DE extracellular matrix. Clinical features include a flat midface with a
DE small nose and anteverted nares, significant shortening of all limb
DE segments but relatively normal hands and feet, and a small bell-shaped
DE thorax with a protuberant abdomen.
DR MIM; 228520; phenotype.
DR MedGen; C0265282.
DR MedGen; C3278138.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Fibrochondrogenesis 2.
AC DI-03400
AR FBCG2.
DE A severe skeletal dysplasia characterized by a flat midface, short
DE long bones, short ribs with broad metaphyses, and vertebral bodies
DE that show distinctive hypoplastic posterior ends and rounded anterior
DE ends, giving the vertebral bodies a pinched appearance on lateral
DE radiographic views. The chest is small, causing perinatal respiratory
DE problems which usually, but not always, result in lethality. Affected
DE individuals who survive the neonatal period have high myopia, mild to
DE moderate hearing loss, and severe skeletal dysplasia.
DR MIM; 614524; phenotype.
DR MedGen; C3281128.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Fibrodysplasia ossificans progressiva.
AC DI-00499
AR FOP.
DE A rare autosomal dominant connective tissue disorder resulting in
DE skeletal malformations and progressive extraskeletal ossification.
DE Heterotopic ossification begins in childhood and can be induced by
DE trauma or may occur without warning. Bone formation is episodic and
DE progressive, leading to a debilitating ankylosis of all major joints
DE of the axial and appendicular skeleton, rendering movement impossible.
SY Man of stone.
SY Myositis ossificans.
SY Myositis ossificans progressive.
DR MIM; 135100; phenotype.
DR MedGen; C0016037.
DR MeSH; D009221.
//
ID Fibromatosis, gingival, 1.
AC DI-01662
AR GINGF1.
DE A form of hereditary gingival fibromatosis, a rare condition
DE characterized by a slow, progressive overgrowth of the gingiva. The
DE excess gingival tissue can cover part of or the entire crown, and can
DE result in diastemas, teeth displacement, or retention of primary or
DE impacted teeth. GINGF1 is usually transmitted as an autosomal dominant
DE trait, although sporadic cases are common.
SY Fibromatosis, gingival, hereditary.
SY GGF1.
SY GINGF.
SY Hereditary gingival fibromatosis.
SY HGF.
DR MIM; 135300; phenotype.
DR MedGen; C0399440.
DR MeSH; D005351.
//
ID Fibromatosis, gingival, 5.
AC DI-05072
AR GINGF5.
DE An autosomal dominant form of hereditary gingival fibromatosis, a rare
DE condition characterized by a slow, progressive overgrowth of the
DE gingiva. The excess gingival tissue can cover part of or the entire
DE crown, and can result in diastemas, teeth displacement, or retention
DE of primary or impacted teeth.
SY Fibromatosis, gingival, hereditary, 5.
SY GGF5.
SY HGF5.
DR MIM; 617626; phenotype.
DR MedGen; CN399090.
DR MeSH; D005351.
//
ID Fibromuscular dysplasia, multifocal.
AC DI-06112
AR FMDMF.
DE An autosomal dominant vascular disorder with incomplete penetrance,
DE characterized by fibrous tissue and webs developing in the artery wall
DE and leading to multiple arterial stenoses. Patients with multifocal
DE fibromuscular dysplasia can develop arterial tortuosity,
DE macroaneurysms, and dissections. Arterial rupture may occur.
DR MIM; 619329; phenotype.
DR MedGen; CN296779.
DR MeSH; D005352.
//
ID Fibrosis of extraocular muscles, congenital, 1.
AC DI-00352
AR CFEOM1.
DE A congenital ocular motility disorder marked by restrictive
DE ophthalmoplegia affecting extraocular muscles innervated by the
DE oculomotor and/or trochlear nerves. It is clinically characterized by
DE anchoring of the eyes in downward gaze, ptosis, and backward tilt of
DE the head. Patients affected by congenital fibrosis of extraocular
DE muscles type 1 show an absence of the superior division of the
DE oculomotor nerve (cranial nerve III) and corresponding oculomotor
DE subnuclei.
SY Blepharoptosis with absent eye movements.
SY Congenital ophthalmoplegia.
SY FEOM1.
DR MIM; 135700; phenotype.
DR MedGen; C1851102.
DR MedGen; C2751105.
DR MeSH; D005355.
DR MeSH; D009886.
//
ID Fibrosis of extraocular muscles, congenital, 2.
AC DI-00353
AR CFEOM2.
DE A congenital ocular motility disorder marked by restrictive
DE ophthalmoplegia affecting extraocular muscles innervated by the
DE oculomotor and/or trochlear nerves. It is clinically characterized by
DE anchoring of the eyes in downward gaze, ptosis, and backward tilt of
DE the head. Congenital fibrosis of extraocular muscles type 2 may result
DE from the defective development of the oculomotor (nIII), trochlear
DE (nIV) and abducens (nVI) cranial nerve nuclei.
SY Congenital fibrosis of extraocular muscles autosomal recessive.
SY Exotropic strabismus fixus.
SY FEOM2.
DR MIM; 602078; phenotype.
DR MedGen; C1865915.
DR MeSH; D005355.
DR MeSH; D009886.
//
ID Fibrosis of extraocular muscles, congenital, 3A.
AC DI-02509
AR CFEOM3A.
DE A congenital ocular motility disorder marked by restrictive
DE ophthalmoplegia affecting extraocular muscles innervated by the
DE oculomotor and/or trochlear nerves. It is clinically characterized by
DE anchoring of the eyes in downward gaze, ptosis, and backward tilt of
DE the head. Congenital fibrosis of extraocular muscles type 3 presents
DE as a non-progressive, autosomal dominant disorder with variable
DE expression. Patients may be bilaterally or unilaterally affected, and
DE their oculo-motility defects range from complete ophthalmoplegia (with
DE the eyes fixed in a hypo- and exotropic position), to mild
DE asymptomatic restrictions of ocular movement. Ptosis, refractive
DE error, amblyopia, and compensatory head positions are associated with
DE the more severe forms of the disorder. In some cases, the ocular
DE phenotype is accompanied by additional features including
DE developmental delay, corpus callosum agenesis, basal ganglia
DE dysmorphism, facial weakness, polyneuropathy.
SY Congenital fibrosis of extraocular muscles 3A with or without extraocular involvement.
SY FEOM3.
SY TUBB3 syndrome.
DR MIM; 600638; phenotype.
DR MedGen; C2748801.
DR MeSH; D005355.
DR MeSH; D009886.
//
ID Fibrosis of extraocular muscles, congenital, 3B.
AC DI-04509
AR CFEOM3B.
DE A congenital ocular motility disorder marked by restrictive
DE ophthalmoplegia affecting extraocular muscles innervated by the
DE oculomotor and/or trochlear nerves. It is clinically characterized by
DE anchoring of the eyes in downward gaze, ptosis, and backward tilt of
DE the head. Congenital fibrosis of extraocular muscles type 3 presents
DE as a non-progressive, autosomal dominant disorder with variable
DE expression. Patients may be bilaterally or unilaterally affected, and
DE their oculo-motility defects range from complete ophthalmoplegia (with
DE the eyes fixed in a hypo- and exotropic position), to mild
DE asymptomatic restrictions of ocular movement. Ptosis, refractive
DE error, amblyopia, and compensatory head positions are associated with
DE the more severe forms of the disorder. In some cases, the ocular
DE phenotype is accompanied by additional features including
DE developmental delay, corpus callosum agenesis, basal ganglia
DE dysmorphism, facial weakness, polyneuropathy.
DR MIM; 135700; phenotype.
DR MedGen; C2751105.
DR MeSH; D005355.
DR MeSH; D009886.
//
ID Fibrosis of extraocular muscles, congenital, 5.
AC DI-04337
AR CFEOM5.
DE An ocular motility disorder characterized by congenital dysinnervation
DE of various cranial nerves to ocular muscles. Clinical features are
DE ophthalmoplegia, anchoring of the eyes in downward gaze, ptosis, and
DE backward tilt of the head.
DR MIM; 616219; phenotype.
DR MedGen; CN225924.
DR MeSH; D005355.
DR MeSH; D009886.
//
ID Fibrosis, neurodegeneration, and cerebral angiomatosis.
AC DI-05458
AR FINCA.
DE An autosomal recessive, early-onset and fatal disorder clinically
DE characterized by progressive cerebropulmonary symptoms, malabsorption,
DE progressive growth failure, recurrent infections, chronic hemolytic
DE anemia and transient liver dysfunction. Death occurs in the first
DE years of life due to respiratory failure. Post-mortem
DE neuropathological examination reveals increased angiomatosis-like
DE leptomeningeal, cortical and superficial white matter vascularisation
DE and congestion, vacuolar degeneration and myelin loss in white matter,
DE as well as neuronal degeneration. Interstitial fibrosis and granuloma-
DE like lesions are observed in the lungs. Hepatomegaly, steatosis and
DE collagen accumulation are detected in the liver.
SY FINCA syndrome.
DR MIM; 618278; phenotype.
DR MedGen; CN258103.
DR MeSH; D020271.
KW KW-0523:Neurodegeneration.
//
ID Ficolin 3 deficiency.
AC DI-03103
AR FCN3D.
DE A disorder characterized by immunodeficiency, recurrent infections,
DE brain abscesses and recurrent warts on the fingers. Affected
DE individuals have normal levels of lymphocytes, normal T-cell
DE responses, and normal antibodies, but a selective deficient antibody
DE response to pneumococcal polysaccharide vaccine.
SY Defect in lectin complement activation pathway, 3.
SY FCN3 deficiency.
SY Immunodeficiency due to ficolin 3 deficiency.
SY LCAPD3.
DR MIM; 613860; phenotype.
DR MedGen; C3151226.
DR MeSH; D007153.
//
ID Filippi syndrome.
AC DI-04307
AR FLPIS.
DE A rare disorder characterized by microcephaly, pre- and postnatal
DE growth failure, syndactyly, and distinctive facial features, including
DE a broad nasal bridge and underdeveloped alae nasi. Some affected
DE individuals have intellectual disability, seizures, undescended
DE testicles in males, and teeth and hair abnormalities.
DR MIM; 272440; phenotype.
DR MedGen; C0795940.
DR MeSH; D006130.
DR MeSH; D008607.
DR MeSH; D008831.
DR MeSH; D013576.
DR MeSH; D019066.
KW KW-0991:Intellectual disability.
//
ID Fish-eye disease.
AC DI-00500
AR FED.
DE A disorder of lipoprotein metabolism due to partial lecithin-
DE cholesterol acyltransferase deficiency that affects only alpha-LCAT
DE activity. FED is characterized by low plasma HDL and corneal opacities
DE due to accumulation of cholesterol deposits in the cornea ('fish-
DE eye').
SY Alpha-LCAT deficiency.
SY Dyslipoproteinemic corneal dystrophy.
DR MIM; 136120; phenotype.
DR MedGen; C0342895.
DR MeSH; D007863.
//
ID Fleck retina, familial benign.
AC DI-03359
AR FRFB.
DE An autosomal recessive condition associated with a distinctive retinal
DE appearance and no apparent visual or electrophysiologic deficits.
DE Affected individuals are asymptomatic, but fundus examination reveals
DE a striking pattern of diffuse, yellow-white, fleck-like lesions
DE extending to the far periphery of the retina but sparing the foveal
DE region.
DR MIM; 228980; phenotype.
DR MedGen; C1856718.
DR MeSH; D012164.
//
ID Floating-Harbor syndrome.
AC DI-03389
AR FLHS.
DE A rare genetic disorder characterized by proportionate short stature,
DE delayed bone age, delayed speech development, and typical facial
DE features. The face is triangular with deep-set eyes, long eyelashes,
DE bulbous nose, wide columella, short philtrum, and thin lips.
DR MIM; 136140; phenotype.
DR MedGen; C0729582.
DR MeSH; D000015.
//
ID Focal cortical dysplasia 2.
AC DI-04980
AR FCORD2.
DE A form of focal cortical dysplasia, a malformation of cortical
DE development that results in medically refractory epilepsy in the
DE pediatric population and in adults. FCORD2 is a severe form, with
DE onset usually in childhood, characterized by disrupted cortical
DE lamination and specific cytological abnormalities. It is classified in
DE 2 subtypes: type IIA characterized by dysmorphic neurons and lack of
DE balloon cells; type IIB with dysmorphic neurons and balloon cells.
SY CDT.
SY CDTBC.
SY CDTD.
SY Cortical dysplasia of Taylor.
SY Cortical dysplasia of Taylor, dysplasia only.
SY Cortical dysplasia of Taylor with balloon cells.
SY Cortical dysplasia of Taylor without balloon cells.
SY FCD2.
SY FCD IIA.
SY FCD IIB.
SY FCDT.
SY FCORD2A.
SY FCORD2B.
SY Focal cortical dysplasia, type II.
SY Focal cortical dysplasia, type IIA.
SY Focal cortical dysplasia, type IIB.
SY Focal cortical dysplasia of Taylor.
SY Focal cortical dysplasia type 2.
DR MIM; 607341; phenotype.
DR MedGen; C1846385.
DR MeSH; D001927.
KW KW-0887:Epilepsy.
//
ID Focal cortical dysplasia of Taylor balloon cell type.
AC DI-01618
AR FCDBC.
DE Subtype of cortical dysplasias linked to chronic intractable epilepsy.
DE Cortical dysplasias display a broad spectrum of structural changes,
DE which appear to result from changes in proliferation, migration,
DE differentiation, and apoptosis of neuronal precursors and neurons
DE during cortical development.
DR MIM; 607341; phenotype.
DR MedGen; C1846385.
DR MedGen; C1846386.
DR MedGen; C1846388.
DR MedGen; C1846389.
//
ID Focal dermal hypoplasia.
AC DI-01619
AR FODH.
DE A rare congenital ectomesodermal disorder characterized by a
DE combination of skin defects, skeletal abnormalities, and ocular
DE anomalies. Affected individuals have patchy dermal hypoplasia, often
DE in a distribution pattern following the Blaschko lines, and areas of
DE subcutaneous fat herniation or deposition of fat into the dermis. In
DE addition, sparse and brittle hair, hypoplastic nails and papillomas
DE have been described. Skeletal abnormalities usually comprise
DE syndactyly, ectrodactyly, and brachydactyly, and in some cases
DE osteopathia striata has been seen. Patients frequently have ocular
DE anomalies, including microphthalmia/ anophthalmia, coloboma,
DE pigmentary and vascularization defects of the retina. Dental
DE abnormalities are often present.
SY DHOF.
SY FDH.
SY Goltz Gorlin syndrome.
SY Goltz-Gorlin syndrome.
SY Goltz syndrome.
DR MIM; 305600; phenotype.
DR MedGen; C0016395.
DR MeSH; D005489.
//
ID Focal facial dermal dysplasia 3, Setleis type.
AC DI-03079
AR FFDD3.
DE A form of focal facial dermal dysplasia, a group of developmental
DE defects characterized by bitemporal or preauricular skin lesions
DE resembling aplasia cutis congenita. FFDD3 is characterized by
DE distinctive bitemporal scar-like depressions resembling forceps marks,
DE and additional facial features, including a coarse and leonine
DE appearance, absent eyelashes on both lids or multiple rows on the
DE upper lids, absent Meibomian glands, slanted eyebrows, chin clefting,
DE and hypo- or hyperpigmentation of the skin. Histologically, the
DE bitemporal lesion is an ectodermal dysplasia with near absence of
DE subcutaneous fat, suggesting insufficient migration of neural crest
DE cells into the frontonasal process and the first branchial arch.
SY Bitemporal forceps marks syndrome.
SY Facial ectodermal dysplasia.
SY FFDD type II.
SY FFDD type III.
SY Focal facial dermal dysplasia type II.
SY Focal facial dermal dysplasia type III.
SY Setleis syndrome.
DR MIM; 227260; phenotype.
DR MedGen; C1744559.
DR MeSH; D004476.
KW KW-0038:Ectodermal dysplasia.
//
ID Focal facial dermal dysplasia 4.
AC DI-03636
AR FFDD4.
DE A form of focal facial dermal dysplasia, a group of developmental
DE defects characterized by bitemporal or preauricular skin lesions
DE resembling aplasia cutis congenita. Skin defects occur at the sites of
DE facial fusion during embryogenesis, with temporal lesions situated at
DE the junction between the frontonasal and maxillary facial prominences,
DE and preauricular lesions at the meeting point of the maxillary and
DE mandibular prominences. The ectodermal lesions show consistent
DE histologic abnormalities: atrophy and flattening of the epidermis,
DE replacement of the dermis by loose connective tissue, reduced levels
DE of fragmented elastic tissue and absence of the subcutaneous tissues
DE and adnexal structures. FFDD4 is characterized by isolated,
DE preauricular skin lesions.
SY FFDD type IV.
SY Focal facial dermal dysplasia type IV.
DR MIM; 614974; phenotype.
DR MedGen; C3554246.
DR MedGen; CN162978.
DR MeSH; D004476.
KW KW-0038:Ectodermal dysplasia.
//
ID Focal segmental glomerulosclerosis 1.
AC DI-01620
AR FSGS1.
DE A renal pathology defined by the presence of segmental sclerosis in
DE glomeruli and resulting in proteinuria, reduced glomerular filtration
DE rate and progressive decline in renal function. Renal insufficiency
DE often progresses to end-stage renal disease, a highly morbid state
DE requiring either dialysis therapy or kidney transplantation.
DR MIM; 603278; phenotype.
DR MedGen; C0017668.
DR MeSH; D005923.
//
ID Focal segmental glomerulosclerosis 10.
AC DI-05975
AR FSGS10.
DE An autosomal dominant form of focal segmental glomerulosclerosis, a
DE renal pathology defined by the presence of segmental sclerosis in
DE glomeruli and resulting in proteinuria, reduced glomerular filtration
DE rate and progressive decline in renal function. Renal insufficiency
DE often progresses to end-stage renal disease, a highly morbid state
DE requiring either dialysis therapy or kidney transplantation.
SY Glomerular basement membrane disease, nail-patella syndrome type.
SY Nail-patella-like renal disease.
SY NPLRD.
DR MIM; 256020; phenotype.
DR MedGen; C0403548.
DR MeSH; D005923.
//
ID Focal segmental glomerulosclerosis 2.
AC DI-01621
AR FSGS2.
DE A renal pathology defined by the presence of segmental sclerosis in
DE glomeruli and resulting in proteinuria, reduced glomerular filtration
DE rate and progressive decline in renal function. Renal insufficiency
DE often progresses to end-stage renal disease, a highly morbid state
DE requiring either dialysis therapy or kidney transplantation.
DR MIM; 603965; phenotype.
DR MedGen; C1858915.
DR MeSH; D005923.
//
ID Focal segmental glomerulosclerosis 3.
AC DI-01622
AR FSGS3.
DE A renal pathology defined by the presence of segmental sclerosis in
DE glomeruli and resulting in proteinuria, reduced glomerular filtration
DE rate and progressive decline in renal function. Renal insufficiency
DE often progresses to end-stage renal disease, a highly morbid state
DE requiring either dialysis therapy or kidney transplantation.
DR MIM; 607832; phenotype.
DR MedGen; C1842982.
DR MedGen; CN068928.
DR MeSH; D005923.
//
ID Focal segmental glomerulosclerosis 4.
AC DI-02864
AR FSGS4.
DE A renal pathology defined by the presence of segmental sclerosis in
DE glomeruli and resulting in proteinuria, reduced glomerular filtration
DE rate and progressive decline in renal function. Renal insufficiency
DE often progresses to end-stage renal disease, a highly morbid state
DE requiring either dialysis therapy or kidney transplantation.
DR MIM; 612551; phenotype.
DR MedGen; C2675525.
DR MeSH; D005923.
//
ID Focal segmental glomerulosclerosis 5.
AC DI-02556
AR FSGS5.
DE A renal pathology defined by the presence of segmental sclerosis in
DE glomeruli and resulting in proteinuria, reduced glomerular filtration
DE rate and progressive decline in renal function. Renal insufficiency
DE often progresses to end-stage renal disease, a highly morbid state
DE requiring either dialysis therapy or kidney transplantation.
DR MIM; 613237; phenotype.
DR MedGen; C2750475.
DR MeSH; D005923.
//
ID Focal segmental glomerulosclerosis 6.
AC DI-03188
AR FSGS6.
DE A renal pathology defined by the presence of segmental sclerosis in
DE glomeruli and resulting in proteinuria, reduced glomerular filtration
DE rate and progressive decline in renal function. Renal insufficiency
DE often progresses to end-stage renal disease, a highly morbid state
DE requiring either dialysis therapy or kidney transplantation. FSGS6 is
DE a childhood-onset disorder resulting in nephrotic syndrome, which
DE includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and
DE edema.
DR MIM; 614131; phenotype.
DR MedGen; C3279905.
DR MeSH; D005923.
//
ID Focal segmental glomerulosclerosis 7.
AC DI-04217
AR FSGS7.
DE A renal pathology defined by the presence of segmental sclerosis in
DE glomeruli and resulting in proteinuria, reduced glomerular filtration
DE rate and progressive decline in renal function. Renal insufficiency
DE often progresses to end-stage renal disease, a highly morbid state
DE requiring either dialysis therapy or kidney transplantation.
DR MIM; 616002; phenotype.
DR MedGen; CN219277.
DR MeSH; D005923.
//
ID Focal segmental glomerulosclerosis 8.
AC DI-04233
AR FSGS8.
DE A renal pathology defined by the presence of segmental sclerosis in
DE glomeruli and resulting in proteinuria, reduced glomerular filtration
DE rate and progressive decline in renal function. Renal insufficiency
DE often progresses to end-stage renal disease, a highly morbid state
DE requiring either dialysis therapy or kidney transplantation.
DR MIM; 616032; phenotype.
DR MedGen; CN219578.
DR MeSH; D005923.
//
ID Focal segmental glomerulosclerosis 9.
AC DI-04326
AR FSGS9.
DE A renal pathology defined by the presence of segmental sclerosis in
DE glomeruli and resulting in proteinuria, reduced glomerular filtration
DE rate and progressive decline in renal function. Renal insufficiency
DE often progresses to end-stage renal disease, a highly morbid state
DE requiring either dialysis therapy or kidney transplantation.
SY Glomerulosclerosis, focal segmental, 9.
DR MIM; 616220; phenotype.
DR MedGen; CN225927.
DR MeSH; D005923.
//
ID Focal segmental glomerulosclerosis and neurodevelopmental syndrome.
AC DI-06177
AR FSGSNEDS.
DE An autosomal dominant disorder characterized by global developmental
DE delay associated with variable features of focal segmental
DE glomerulosclerosis, a renal pathology defined by the presence of
DE segmental sclerosis in glomeruli and resulting in proteinuria, reduced
DE glomerular filtration rate and progressive decline in renal function.
DE Some patients have transient proteinuria and others require renal
DE transplant. Neurodevelopmental features are also variable, with some
DE patients having only mildly impaired intellectual development, and
DE others having a severe developmental disorder associated with early-
DE onset refractory seizures or epileptic encephalopathy. Additional
DE features, including feeding difficulties, poor overall growth, and
DE non-specific dysmorphic facial features, are commonly observed.
DR MIM; 619428; phenotype.
DR MedGen; CN301126.
DR MeSH; D005923.
DR MeSH; D065886.
//
ID Fontaine progeroid syndrome.
AC DI-05183
AR FPS.
DE An autosomal dominant progeroid disorder characterized by prenatal and
DE postnatal growth retardation, decreased subcutaneous fat tissue,
DE wrinkled skin, an aged appearance since birth, an abnormal scalp hair
DE pattern, sparse hair, hypoplastic distal phalanges with hypoplastic
DE nails, a widely open anterior fontanel, facial dysmorphisms, and
DE craniosynostosis. Early death is observed in some patients.
SY Craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence.
SY GCMS.
SY Gorlin-Chaudhry-Moss syndrome.
SY Progeroid syndrome, congenital, Petty type.
DR MIM; 612289; phenotype.
DR MedGen; C2676780.
DR MeSH; D000015.
DR MeSH; D019588.
//
ID Foveal hypoplasia 1.
AC DI-01624
AR FVH1.
DE An isolated form of foveal hypoplasia, a developmental defect of the
DE eye defined as the lack of foveal depression with continuity of all
DE neurosensory retinal layers in the presumed foveal area. Clinical
DE features include absence of foveal pit on optical coherence
DE tomography, absence of foveal hyperpigmentation, absence of foveal
DE avascularity, absence of foveal and macular reflexes, decreased visual
DE acuity, and nystagmus. Anterior segment anomalies and cataract are
DE observed in some FVH1 patients.
SY Foveal hypoplasia and presenile cataract syndrome.
SY Foveal hypoplasia with or without anterior segment anomalies and/or cataract.
DR MIM; 136520; phenotype.
DR MedGen; C1850994.
DR MedGen; C2931644.
DR MedGen; C3805604.
DR MeSH; D015785.
//
ID Foveal hypoplasia 2.
AC DI-04048
AR FVH2.
DE An isolated form of foveal hypoplasia, a developmental defect of the
DE eye defined as the lack of foveal depression with continuity of all
DE neurosensory retinal layers in the presumed foveal area. Clinical
DE features include absence of foveal pit on optical coherence
DE tomography, absence of foveal hyperpigmentation, absence of foveal
DE avascularity, absence of foveal and macular reflexes, decreased visual
DE acuity, and nystagmus. Optic nerve misrouting and anterior segment
DE dysgenesis are observed in some FVH2 patients.
SY FHONDA.
SY Foveal hypoplasia, optic nerve decussation defects, and anterior segment dysgenesis without albinism.
SY Foveal hypoplasia and anterior segment dysgenesis.
SY Foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis.
DR MIM; 609218; phenotype.
DR MedGen; C1836603.
DR MeSH; D015785.
//
ID Fragile X syndrome.
AC DI-01625
AR FXS.
DE An X-linked dominant disease characterized by moderate to severe
DE intellectual disability, macroorchidism (enlargement of the
DE testicles), large ears, prominent jaw, and high-pitched, jocular
DE speech. The defect in most patients results from an amplification of a
DE CGG repeat region in the FMR1 gene and abnormal methylation.
SY Marker X syndrome.
SY Martin-Bell syndrome.
DR MIM; 300624; phenotype.
DR MedGen; C0016667.
DR MeSH; D005600.
KW KW-0991:Intellectual disability.
//
ID Fragile X tremor/ataxia syndrome.
AC DI-01626
AR FXTAS.
DE An X-linked neurodegenerative disorder characterized by late-onset,
DE progressive cerebellar ataxia and intention tremor followed by
DE cognitive decline.
DR MIM; 300623; phenotype.
DR MedGen; C1839780.
DR MeSH; D038901.
KW KW-0523:Neurodegeneration.
//
ID Frank-Ter Haar syndrome.
AC DI-02812
AR FTHS.
DE A syndrome characterized by brachycephaly, wide fontanels, prominent
DE forehead, hypertelorism, prominent eyes, macrocornea with or without
DE glaucoma, full cheeks, small chin, bowing of the long bones and
DE flexion deformity of the fingers.
SY Autosomal recessive Melnick-Needles syndrome.
SY Borrone dermatocardioskeletal syndrome.
SY Ter Haar syndrome.
DR MIM; 249420; phenotype.
DR MedGen; C1855305.
DR MeSH; D010009.
DR MeSH; D019465.
//
ID Fraser syndrome 1.
AC DI-01627
AR FRASRS1.
DE A form of Fraser syndrome, an autosomal recessive disorder
DE characterized by cryptophthalmos, cutaneous syndactyly, and urogenital
DE abnormalities including renal agenesis or hypoplasia. Additional
DE features include abnormalities of the larynx, ear malformations, and
DE facial abnormalities.
DR MIM; 219000; phenotype.
DR MedGen; C0265233.
DR MeSH; D058497.
//
ID Fraser syndrome 2.
AC DI-05098
AR FRASRS2.
DE A form of Fraser syndrome, an autosomal recessive disorder
DE characterized by cryptophthalmos, cutaneous syndactyly, and urogenital
DE abnormalities including renal agenesis or hypoplasia. Additional
DE features include abnormalities of the larynx, ear malformations, and
DE facial abnormalities.
DR MIM; 617666; phenotype.
DR MedGen; CN464191.
DR MeSH; D058497.
//
ID Fraser syndrome 3.
AC DI-05099
AR FRASRS3.
DE A form of Fraser syndrome, an autosomal recessive disorder
DE characterized by cryptophthalmos, cutaneous syndactyly, and urogenital
DE abnormalities including renal agenesis or hypoplasia. Additional
DE features include abnormalities of the larynx, ear malformations, and
DE facial abnormalities.
DR MIM; 617667; phenotype.
DR MedGen; CN464192.
DR MeSH; D058497.
//
ID Frasier syndrome.
AC DI-01628
AR FS.
DE Characterized by a slowly progressing nephropathy leading to renal
DE failure in adolescence or early adulthood, male pseudohermaphroditism,
DE and no Wilms tumor. As for histological findings of the kidneys, focal
DE glomerular sclerosis is often observed. There is phenotypic overlap
DE with Denys-Drash syndrome. Inheritance is autosomal dominant.
DR MIM; 136680; phenotype.
DR MedGen; C0950122.
//
ID Friedreich ataxia.
AC DI-01630
AR FRDA.
DE Autosomal recessive, progressive degenerative disease characterized by
DE neurodegeneration and cardiomyopathy it is the most common inherited
DE ataxia. The disorder is usually manifest before adolescence and is
DE generally characterized by incoordination of limb movements,
DE dysarthria, nystagmus, diminished or absent tendon reflexes, Babinski
DE sign, impairment of position and vibratory senses, scoliosis, pes
DE cavus, and hammer toe. In most patients, FRDA is due to GAA triplet
DE repeat expansions in the first intron of the frataxin gene. But in
DE some cases the disease is due to mutations in the coding region.
SY FA.
SY FRDA1.
SY Friedreich ataxia 1.
SY Friedreich ataxia with retained reflexes.
DR MIM; 229300; phenotype.
DR MedGen; C0016719.
DR MedGen; C1847416.
DR MedGen; C1856689.
DR MeSH; D005621.
//
ID Frontometaphyseal dysplasia 1.
AC DI-01631
AR FMD1.
DE An X-linked disease characterized by generalized skeletal dysplasia,
DE deafness, and urogenital defects.
SY FMD.
DR MIM; 305620; phenotype.
DR MedGen; C0265293.
DR MeSH; D010009.
KW KW-0209:Deafness.
//
ID Frontometaphyseal dysplasia 2.
AC DI-04852
AR FMD2.
DE A form of frontometaphyseal dysplasia, a progressive sclerosing
DE skeletal dysplasia affecting the long bones and skull. Characteristic
DE features include supraorbital hyperostosis, cranial hyperostosis,
DE undermodeling of the small bones, flared metaphyses, and digital
DE anomalies. Extra-skeletal manifestations include hearing loss, cardiac
DE malformations, and stenosis, particularly of the upper airway and
DE urinary tract. FMD2 inheritance is autosomal dominant.
DR MIM; 617137; phenotype.
DR MedGen; CN238524.
DR MeSH; D010009.
//
ID Frontonasal dysplasia 1.
AC DI-02575
AR FND1.
DE The term frontonasal dysplasia describes an array of abnormalities
DE affecting the eyes, forehead and nose and linked to midfacial
DE dysraphia. The clinical picture is highly variable. Major findings
DE include true ocular hypertelorism; broadening of the nasal root;
DE median facial cleft affecting the nose and/or upper lip and palate;
DE unilateral or bilateral clefting of the alae nasi; lack of formation
DE of the nasal tip; anterior cranium bifidum occultum; a V-shaped or
DE widow's peak frontal hairline.
SY FND.
SY FNM.
SY Frontonasal dysplasia.
SY Frontonasal malformation.
SY Frontorhiny.
SY Median cleft syndrome.
DR MIM; 136760; phenotype.
DR MedGen; C1876203.
DR MeSH; D000013.
//
ID Frontonasal dysplasia 2.
AC DI-02709
AR FND2.
DE The term frontonasal dysplasia describes an array of abnormalities
DE affecting the eyes, forehead and nose and linked to midfacial
DE dysraphia. The clinical picture is highly variable. Major findings
DE include true ocular hypertelorism; broadening of the nasal root;
DE median facial cleft affecting the nose and/or upper lip and palate;
DE unilateral or bilateral clefting of the alae nasi; lack of formation
DE of the nasal tip; anterior cranium bifidum occultum; a V-shaped or
DE widow's peak frontal hairline.
DR MIM; 613451; phenotype.
DR MedGen; C3150703.
DR MeSH; D000013.
//
ID Frontonasal dysplasia 3.
AC DI-02710
AR FND3.
DE The term frontonasal dysplasia describes an array of abnormalities
DE affecting the eyes, forehead and nose and linked to midfacial
DE dysraphia. The clinical picture is highly variable. Major findings
DE include true ocular hypertelorism; broadening of the nasal root;
DE median facial cleft affecting the nose and/or upper lip and palate;
DE unilateral or bilateral clefting of the alae nasi; lack of formation
DE of the nasal tip; anterior cranium bifidum occultum; a V-shaped or
DE widow's peak frontal hairline.
DR MIM; 613456; phenotype.
DR MedGen; C3150706.
DR MeSH; D000013.
//
ID Frontotemporal dementia.
AC DI-01632
AR FTD.
DE A form of dementia characterized by pathologic finding of
DE frontotemporal lobar degeneration, presenile dementia with behavioral
DE changes, deterioration of cognitive capacities and loss of memory. In
DE some cases, parkinsonian symptoms are prominent. Neuropathological
DE changes include frontotemporal atrophy often associated with atrophy
DE of the basal ganglia, substantia nigra, amygdala. In most cases,
DE protein tau deposits are found in glial cells and/or neurons.
SY DDPAC.
SY Disinhibition-dementia-parkinsonism-amyotrophy complex.
SY FLDEM.
SY Frontotemporal dementia-amyotrophic lateral sclerosis.
SY Frontotemporal dementia and parkinsonism linked to chromosome 17.
SY Frontotemporal dementia with parkinsonism.
SY Frontotemporal lobar degeneration.
SY Frontotemporal lobar degeneration with TAU inclusions.
SY Frontotemporal lobe dementia.
SY FTD-ALS.
SY FTDP17.
SY FTLD.
SY FTLD with TAU inclusions.
SY MSTD.
SY Multiple system tauopathy with presenile dementia.
SY Pallidopontonigral degeneration.
SY Pick complex.
SY PPND.
SY Wilhelmsen-Lynch disease.
SY WLD.
DR MIM; 600274; phenotype.
DR MedGen; C0338451.
DR MedGen; C0520716.
DR MedGen; C0751072.
DR MedGen; C1838313.
DR MedGen; C2718018.
DR MedGen; C2718305.
DR MeSH; D057180.
KW KW-0523:Neurodegeneration.
//
ID Frontotemporal dementia and/or amyotrophic lateral sclerosis 1.
AC DI-03247
AR FTDALS1.
DE An autosomal dominant neurodegenerative disorder characterized by
DE adult onset of frontotemporal dementia and/or amyotrophic lateral
DE sclerosis in an affected individual. There is high intrafamilial
DE variation. Frontotemporal dementia is characterized by frontal and
DE temporal lobe atrophy associated with neuronal loss, gliosis, and
DE dementia. Patients exhibit progressive changes in social, behavioral,
DE and/or language function. Amyotrophic lateral sclerosis is
DE characterized by the death of motor neurons in the brain, brainstem,
DE and spinal cord, resulting in fatal paralysis.
SY ALSFTD.
SY Amyotrophic lateral sclerosis and/or frontotemporal dementia.
SY Frontotemporal dementia and/or motor neuron disease.
SY FTDMND.
DR MIM; 105550; phenotype.
DR MedGen; C1862937.
DR MeSH; D000690.
DR MeSH; D057174.
KW KW-0036:Amyotrophic lateral sclerosis.
//
ID Frontotemporal dementia and/or amyotrophic lateral sclerosis 2.
AC DI-04163
AR FTDALS2.
DE A neurodegenerative disorder characterized by frontotemporal dementia
DE and/or amyotrophic lateral sclerosis in affected individuals. There is
DE high intrafamilial variation. Frontotemporal dementia is characterized
DE by frontal and temporal lobe atrophy associated with neuronal loss,
DE gliosis, and dementia. Patients exhibit progressive changes in social,
DE behavioral, and/or language function. Amyotrophic lateral sclerosis is
DE characterized by the death of motor neurons in the brain, brainstem,
DE and spinal cord, resulting in fatal paralysis.
DR MIM; 615911; phenotype.
DR MedGen; CN197015.
DR MeSH; D000690.
DR MeSH; D057174.
KW KW-0036:Amyotrophic lateral sclerosis.
//
ID Frontotemporal dementia and/or amyotrophic lateral sclerosis 3.
AC DI-04471
AR FTDALS3.
DE A neurodegenerative disorder characterized by frontotemporal dementia
DE and/or amyotrophic lateral sclerosis in affected individuals. There is
DE high intrafamilial variation. Frontotemporal dementia is characterized
DE by frontal and temporal lobe atrophy associated with neuronal loss,
DE gliosis, and dementia. Patients exhibit progressive changes in social,
DE behavioral, and/or language function. Amyotrophic lateral sclerosis is
DE characterized by the death of motor neurons in the brain, brainstem,
DE and spinal cord, resulting in fatal paralysis. Some FTDALS3 patients
DE may also develop Paget disease of bone.
DR MIM; 616437; phenotype.
DR MedGen; CN231386.
DR MeSH; D000690.
DR MeSH; D057174.
KW KW-0036:Amyotrophic lateral sclerosis.
//
ID Frontotemporal dementia and/or amyotrophic lateral sclerosis 4.
AC DI-04472
AR FTDALS4.
DE A neurodegenerative disorder characterized by frontotemporal dementia
DE and/or amyotrophic lateral sclerosis in affected individuals. There is
DE high intrafamilial variation. Frontotemporal dementia is characterized
DE by frontal and temporal lobe atrophy associated with neuronal loss,
DE gliosis, and dementia. Patients exhibit progressive changes in social,
DE behavioral, and/or language function. Amyotrophic lateral sclerosis is
DE characterized by the death of motor neurons in the brain, brainstem,
DE and spinal cord, resulting in fatal paralysis.
DR MIM; 616439; phenotype.
DR MedGen; CN231440.
DR MeSH; D000690.
DR MeSH; D057174.
KW KW-0036:Amyotrophic lateral sclerosis.
//
ID Frontotemporal dementia and/or amyotrophic lateral sclerosis 5.
AC DI-06001
AR FTDALS5.
DE A neurodegenerative disorder characterized by frontotemporal dementia
DE and/or amyotrophic lateral sclerosis in affected individuals. There is
DE high intrafamilial variation. Frontotemporal dementia is characterized
DE by frontal and temporal lobe atrophy associated with neuronal loss,
DE gliosis, and dementia. Patients exhibit progressive changes in social,
DE behavioral, and/or language function. Amyotrophic lateral sclerosis is
DE characterized by the death of motor neurons in the brain, brainstem,
DE and spinal cord, resulting in fatal paralysis. FTDALS5 is an autosomal
DE dominant form with age-dependent penetrance. Penetrance is estimated
DE to be 50% by age 56 and 100% by age 61.
DR MIM; 619141; phenotype.
DR MedGen; CN293621.
DR MeSH; D000690.
DR MeSH; D057174.
KW KW-0036:Amyotrophic lateral sclerosis.
//
ID Frontotemporal dementia and/or amyotrophic lateral sclerosis 6.
AC DI-03119
AR FTDALS6.
DE A neurodegenerative disorder characterized by frontotemporal dementia
DE and/or amyotrophic lateral sclerosis in affected individuals. There is
DE high intrafamilial variation. Frontotemporal dementia (FTD) is
DE characterized by frontal and temporal lobe atrophy associated with
DE neuronal loss, gliosis, and dementia. Patients exhibit progressive
DE changes in social, behavioral, and/or language function. Amyotrophic
DE lateral sclerosis (ALS) is characterized by the death of motor neurons
DE in the brain, brainstem, and spinal cord, resulting in fatal
DE paralysis. FTDALS6 is an autosomal dominant form characterized by
DE onset of ALS or FTD in adulthood. Some patients with the disorder may
DE have features of both diseases.
SY ALS14.
SY Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia.
DR MIM; 613954; phenotype.
DR MedGen; C3151403.
DR MeSH; D000690.
DR MeSH; D057174.
KW KW-0036:Amyotrophic lateral sclerosis.
//
ID Frontotemporal dementia and/or amyotrophic lateral sclerosis 7.
AC DI-01633
AR FTDALS7.
DE A neurodegenerative disorder characterized by frontotemporal dementia
DE and/or amyotrophic lateral sclerosis in affected individuals. There is
DE high intrafamilial variation. Frontotemporal dementia (FTD) is
DE characterized by frontal and temporal lobe atrophy associated with
DE neuronal loss, gliosis, and dementia. Patients exhibit progressive
DE changes in social, behavioral, and/or language function. Amyotrophic
DE lateral sclerosis (ALS) is characterized by the death of motor neurons
DE in the brain, brainstem, and spinal cord, resulting in fatal
DE paralysis. FTDALS7 is an autosomal dominant form characterized by
DE onset of ALS or FTD in adulthood. A few patients may have both
DE phenotypes.
SY ALS17.
SY Amyotrophic lateral sclerosis, CHMP2B-related.
SY Amyotrophic lateral sclerosis 17.
SY Frontotemporal dementia, chromosome 3-linked.
SY FTD3.
DR MIM; 600795; phenotype.
DR MedGen; C1833296.
DR MeSH; D000690.
DR MeSH; D057174.
KW KW-0036:Amyotrophic lateral sclerosis.
//
ID Frontotemporal dementia and/or amyotrophic lateral sclerosis 8.
AC DI-06000
AR FTDALS8.
DE A neurodegenerative disorder characterized by frontotemporal dementia
DE and/or amyotrophic lateral sclerosis in affected individuals. There is
DE high intrafamilial variation. Frontotemporal dementia is characterized
DE by frontal and temporal lobe atrophy associated with neuronal loss,
DE gliosis, and dementia. Patients exhibit progressive changes in social,
DE behavioral, and/or language function. Amyotrophic lateral sclerosis is
DE characterized by the death of motor neurons in the brain, brainstem,
DE and spinal cord, resulting in fatal paralysis. FTDALS8 is an autosomal
DE dominant form.
DR MIM; 619132; phenotype.
DR MedGen; CN293619.
DR MeSH; D000690.
DR MeSH; D057174.
KW KW-0036:Amyotrophic lateral sclerosis.
//
ID Fructose-1,6-bisphosphatase deficiency.
AC DI-01634
AR FBP1D.
DE An autosomal recessive metabolic disorder characterized by impaired
DE gluconeogenesis, and episodes of hypoglycemia and metabolic acidosis
DE that can be lethal in newborn infants or young children.
DR MIM; 229700; phenotype.
DR MedGen; C0016756.
DR MeSH; D015319.
//
ID Fructosuria.
AC DI-01635
AR FRUCT.
DE Benign defect of intermediary metabolism.
DR MIM; 229800; phenotype.
DR MedGen; C0268160.
//
ID Fucosidosis.
AC DI-00501
AR FUCA1D.
DE An autosomal recessive lysosomal storage disease characterized by
DE accumulation of fucose-containing glycolipids and glycoproteins in
DE various tissues. Clinical signs include facial dysmorphism, dysostosis
DE multiplex, moderate hepatomegaly, severe intellectual deficit,
DE deafness, and according to age, angiokeratomas.
SY Alpha-L-fucosidase deficiency.
DR MIM; 230000; phenotype.
DR MedGen; C0016788.
DR MeSH; D005645.
//
ID Fuhrmann syndrome.
AC DI-01637
AR FUHRS.
DE Distinct limb-malformation disorder characterized also by various
DE degrees of limb aplasia/hypoplasia and joint dysplasia.
SY Fibular aplasia.
SY Hypoplasia femoral bowing and poly- syn- and oligodactyly.
DR MIM; 228930; phenotype.
DR MedGen; C1856728.
//
ID Fumarase deficiency.
AC DI-01638
AR FMRD.
DE A severe autosomal recessive metabolic disorder characterized by
DE early-onset hypotonia, profound psychomotor retardation, and brain
DE abnormalities, such as agenesis of the corpus callosum, gyral defects,
DE and ventriculomegaly. Many patients show neonatal distress, metabolic
DE acidosis, and/or encephalopathy.
SY Fumaric aciduria.
DR MIM; 606812; phenotype.
DR MedGen; C0342770.
DR MedGen; C2936826.
DR MeSH; D008661.
DR MeSH; D009123.
DR MeSH; D011596.
//
ID Fundus albipunctatus.
AC DI-04584
AR FALBI.
DE A form of fleck retina disease characterized by discrete uniform white
DE dots over the entire fundus with greatest density in the mid-periphery
DE and no macular involvement. Night blindness occurs. Inheritance can be
DE autosomal dominant or autosomal recessive.
SY FA.
DR MIM; 136880; phenotype.
DR MedGen; C0311338.
DR MeSH; D012164.
//
ID Fundus flavimaculatus.
AC DI-01640
AR FFM.
DE Autosomal recessive retinal disorder very similar to Stargardt
DE disease. In contrast to Stargardt disease, FFM is characterized by
DE later onset and slowly progressive course.
DR MIM; 248200; phenotype.
DR MedGen; C1858080.
//
ID GABA transaminase deficiency.
AC DI-01641
AR GABATD.
DE An enzymatic deficiency resulting in psychomotor retardation,
DE hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG
DE abnormalities.
DR MIM; 613163; phenotype.
DR MedGen; C0342708.
DR MeSH; D000592.
//
ID Gabriele-de Vries syndrome.
AC DI-05032
AR GADEVS.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE delayed psychomotor development and intellectual disability. Most
DE patients have behavioral and feeding problems, movement abnormalities,
DE mild distal skeletal anomalies, and dysmorphic facial features.
DR MIM; 617557; phenotype.
DR MedGen; CN303159.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Galactosemia 1.
AC DI-01642
AR GALAC1.
DE A form of galactosemia, an inborn error of galactose metabolism
DE typically manifesting in the neonatal period, after ingestion of
DE galactose, with jaundice, hepatosplenomegaly, hepatocellular
DE insufficiency, food intolerance, hypoglycemia, renal tubular
DE dysfunction, muscle hypotonia, sepsis and cataract. GALAC1 inheritance
DE is autosomal recessive.
SY Galactose-1-phosphate uridylyltransferase deficiency.
SY Galactosemia, classic.
SY Galactosemia, Duarte variant.
SY Galactosemia I.
SY GALT deficiency.
DR MIM; 230400; phenotype.
DR MedGen; C0268151.
DR MedGen; C3278146.
DR MeSH; D005693.
//
ID Galactosemia 2.
AC DI-01643
AR GALAC2.
DE A form of galactosemia, an inborn error of galactose metabolism
DE typically manifesting in the neonatal period, after ingestion of
DE galactose, with jaundice, hepatosplenomegaly, hepatocellular
DE insufficiency, food intolerance, hypoglycemia, renal tubular
DE dysfunction, muscle hypotonia, sepsis and cataract. GALAC2 inheritance
DE is autosomal recessive.
SY Galactokinase deficiency.
SY Galactokinase deficiency with cataracts.
SY Galactosemia II.
SY GALK deficiency.
DR MIM; 230200; phenotype.
DR MedGen; C0268155.
DR MeSH; D005693.
//
ID Galactosemia 3.
AC DI-01534
AR GALAC3.
DE A form of galactosemia, an inborn error of galactose metabolism
DE typically manifesting in the neonatal period, after ingestion of
DE galactose, with jaundice, hepatosplenomegaly, hepatocellular
DE insufficiency, food intolerance, hypoglycemia, renal tubular
DE dysfunction, muscle hypotonia, sepsis and cataract. GALAC3 is an
DE autosomal recessive form caused by galactose epimerase deficiency. It
DE can manifest as benign, peripheral form with mild symptoms and
DE enzymatic deficiency in circulating blood cells only. A second form,
DE known as generalized epimerase deficiency, is characterized by
DE undetectable levels of enzyme activity in all tissues and severe
DE clinical features, including restricted growth and intellectual
DE disability.
SY Galactose epimerase deficiency.
SY Galactosemia III.
SY GALE deficiency.
SY UDP-galactose-4-epimerase deficiency.
DR MIM; 230350; phenotype.
DR MedGen; C0751161.
DR MeSH; D005693.
//
ID Galactosemia 4.
AC DI-05839
AR GALAC4.
DE A form of galactosemia, an inborn error of galactose metabolism
DE typically manifesting in the neonatal period, after ingestion of
DE galactose, with jaundice, hepatosplenomegaly, hepatocellular
DE insufficiency, food intolerance, hypoglycemia, renal tubular
DE dysfunction, muscle hypotonia, sepsis and cataract. GALAC4 inheritance
DE is autosomal recessive.
SY Galactosemia IV.
SY Galactose mutarotase deficiency.
DR MIM; 618881; phenotype.
DR MedGen; CN280928.
DR MeSH; D005693.
//
ID Galactosialidosis.
AC DI-01644
AR GSL.
DE A lysosomal storage disease associated with a combined deficiency of
DE beta-galactosidase and neuraminidase, secondary to a defect in
DE cathepsin A. All patients have clinical manifestations typical of a
DE lysosomal disorder, such as coarse facies, cherry red spots, vertebral
DE changes, foam cells in the bone marrow, and vacuolated lymphocytes.
DE Three phenotypic subtypes are recognized. The early infantile form is
DE associated with fetal hydrops, edema, ascites, visceromegaly, skeletal
DE dysplasia, and early death. The late infantile type is characterized
DE by hepatosplenomegaly, growth retardation, cardiac involvement, and a
DE normal or mildly affected mental state. The juvenile/adult form is
DE characterized by myoclonus, ataxia, angiokeratoma, intellectual
DE disability, neurologic deterioration, absence of visceromegaly, and
DE long survival.
SY Cathepsin A deficiency.
SY Goldberg syndrome.
SY Lysosomal protective protein deficiency.
SY Neuraminidase deficiency with beta-galactosidase deficiency.
SY PPCA deficiency.
SY Protective protein cathepsin A deficiency.
DR MIM; 256540; phenotype.
DR MedGen; C0268233.
DR MedGen; CN068412.
DR MedGen; CN068413.
DR MedGen; CN068414.
DR MeSH; D016464.
//
ID Gallbladder disease 1.
AC DI-01341
AR GBD1.
DE One of the major digestive diseases. Gallstones composed of
DE cholesterol (cholelithiasis) are the common manifestations in western
DE countries. Most people with gallstones, however, remain asymptomatic
DE through their lifetimes.
SY Cholecystitis.
SY Cholelithiasis.
SY Gallstones.
DR MIM; 600803; phenotype.
DR MedGen; C0008325.
DR MedGen; C0008350.
DR MedGen; C2609268.
DR MeSH; D002764.
DR MeSH; D042882.
//
ID Gallbladder disease 4.
AC DI-02886
AR GBD4.
DE One of the major digestive diseases. Gallstones composed of
DE cholesterol (cholelithiasis) are the common manifestations in western
DE countries. Most people with gallstones, however, remain asymptomatic
DE through their lifetimes.
DR MIM; 611465; phenotype.
DR MedGen; C1969115.
DR MeSH; D005705.
//
ID Galloway-Mowat syndrome 1.
AC DI-04306
AR GAMOS1.
DE A form of Galloway-Mowat syndrome, a severe renal-neurological disease
DE characterized by early-onset nephrotic syndrome associated with
DE microcephaly, central nervous system abnormalities, developmental
DE delays, and a propensity for seizures. Brain anomalies include
DE gyration defects ranging from lissencephaly to pachygyria and
DE polymicrogyria, and cerebellar hypoplasia. Most patients show facial
DE dysmorphism characterized by a small, narrow forehead, large/floppy
DE ears, deep-set eyes, hypertelorism and micrognathia. Additional
DE variable features are visual impairment and arachnodactyly. Patients
DE may die in early childhood. GAMOS1 inheritance is autosomal recessive.
SY CAMOS.
SY Galloway-Mowat syndrome.
SY Galloway syndrome.
SY Microcephaly, hiatal hernia, and nephrotic syndrome.
SY Nephrosis-microcephaly syndrome.
SY Nephrosis-neuronal dysmigration syndrome.
SY SCAR5.
SY Spinocerebellar ataxia, autosomal recessive, 5.
DR MIM; 251300; phenotype.
DR MedGen; C0795949.
DR MeSH; D006551.
DR MeSH; D008831.
DR MeSH; D009404.
DR MeSH; D009422.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Galloway-Mowat syndrome 10.
AC DI-06184
AR GAMOS10.
DE A form of Galloway-Mowat syndrome, a severe renal-neurological disease
DE characterized by early-onset nephrotic syndrome associated with
DE microcephaly, central nervous system abnormalities, developmental
DE delays, and a propensity for seizures. Brain anomalies include
DE gyration defects ranging from lissencephaly to pachygyria and
DE polymicrogyria, and cerebellar hypoplasia. Most patients show facial
DE dysmorphism characterized by a small, narrow forehead, large/floppy
DE ears, deep-set eyes, and micrognathia. Additional variable features
DE are visual impairment and arachnodactyly. Most patients die in early
DE childhood. GAMOS10 is an autosomal recessive form with fatal outcome.
DE Patients manifest congenital hypothyroidism in addition to neurologic,
DE renal and dysmorphic features.
DR MIM; 619609; phenotype.
DR MedGen; CN301234.
DR MeSH; D008831.
DR MeSH; D009404.
DR MeSH; D009422.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Galloway-Mowat syndrome 2, X-linked.
AC DI-05105
AR GAMOS2.
DE A form of Galloway-Mowat syndrome, a severe renal-neurological disease
DE characterized by early-onset nephrotic syndrome associated with
DE microcephaly, central nervous system abnormalities, developmental
DE delays, and a propensity for seizures. Brain anomalies include
DE gyration defects ranging from lissencephaly to pachygyria and
DE polymicrogyria, and cerebellar hypoplasia. Most patients show facial
DE dysmorphism characterized by a small, narrow forehead, large/floppy
DE ears, deep-set eyes, hypertelorism and micrognathia. Additional
DE variable features are visual impairment and arachnodactyly. Most
DE patients die in early childhood.
DR MIM; 301006; phenotype.
DR MedGen; CN570502.
DR MeSH; D008831.
DR MeSH; D009404.
DR MeSH; D009422.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Galloway-Mowat syndrome 3.
AC DI-05106
AR GAMOS3.
DE A form of Galloway-Mowat syndrome, a severe renal-neurological disease
DE characterized by early-onset nephrotic syndrome associated with
DE microcephaly, central nervous system abnormalities, developmental
DE delays, and a propensity for seizures. Brain anomalies include
DE gyration defects ranging from lissencephaly to pachygyria and
DE polymicrogyria, and cerebellar hypoplasia. Most patients show facial
DE dysmorphism characterized by a small, narrow forehead, large/floppy
DE ears, deep-set eyes, hypertelorism and micrognathia. Additional
DE variable features are visual impairment and arachnodactyly. Most
DE patients die in early childhood.
DR MIM; 617729; phenotype.
DR MedGen; CN570505.
DR MeSH; D008831.
DR MeSH; D009404.
DR MeSH; D009422.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Galloway-Mowat syndrome 4.
AC DI-05107
AR GAMOS4.
DE A form of Galloway-Mowat syndrome, a severe renal-neurological disease
DE characterized by early-onset nephrotic syndrome associated with
DE microcephaly, central nervous system abnormalities, developmental
DE delays, and a propensity for seizures. Brain anomalies include
DE gyration defects ranging from lissencephaly to pachygyria and
DE polymicrogyria, and cerebellar hypoplasia. Most patients show facial
DE dysmorphism characterized by a small, narrow forehead, large/floppy
DE ears, deep-set eyes, hypertelorism and micrognathia. Additional
DE variable features are visual impairment and arachnodactyly. Most
DE patients die in early childhood.
DR MIM; 617730; phenotype.
DR MedGen; CN570506.
DR MeSH; D008831.
DR MeSH; D009404.
DR MeSH; D009422.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Galloway-Mowat syndrome 5.
AC DI-05108
AR GAMOS5.
DE A form of Galloway-Mowat syndrome, a severe renal-neurological disease
DE characterized by early-onset nephrotic syndrome associated with
DE microcephaly, central nervous system abnormalities, developmental
DE delays, and a propensity for seizures. Brain anomalies include
DE gyration defects ranging from lissencephaly to pachygyria and
DE polymicrogyria, and cerebellar hypoplasia. Most patients show facial
DE dysmorphism characterized by a small, narrow forehead, large/floppy
DE ears, deep-set eyes, hypertelorism and micrognathia. Additional
DE variable features are visual impairment and arachnodactyly. Most
DE patients die in early childhood.
DR MIM; 617731; phenotype.
DR MedGen; CN570507.
DR MeSH; D008831.
DR MeSH; D009404.
DR MeSH; D009422.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Galloway-Mowat syndrome 6.
AC DI-05498
AR GAMOS6.
DE A form of Galloway-Mowat syndrome, a severe renal-neurological disease
DE characterized by early-onset nephrotic syndrome associated with
DE microcephaly, central nervous system abnormalities, developmental
DE delays, and a propensity for seizures. Brain anomalies include
DE gyration defects ranging from lissencephaly to pachygyria and
DE polymicrogyria, and cerebellar hypoplasia. Most patients show facial
DE dysmorphism characterized by a small, narrow forehead, large/floppy
DE ears, deep-set eyes, hypertelorism and micrognathia. Additional
DE variable features are visual impairment and arachnodactyly. Most
DE patients die in early childhood. GAMOS6 is an autosomal recessive form
DE with onset in infancy or early childhood. Affected individuals
DE manifest microcephaly, global developmental delay, variable degrees of
DE intellectual disability, and growth deficiency. Renal impairment may
DE be age-dependent or may not be present.
DR MIM; 618347; phenotype.
DR MedGen; CN258241.
DR MeSH; D008831.
DR MeSH; D009404.
DR MeSH; D009422.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Galloway-Mowat syndrome 7.
AC DI-05499
AR GAMOS7.
DE A form of Galloway-Mowat syndrome, a severe renal-neurological disease
DE characterized by early-onset nephrotic syndrome associated with
DE microcephaly, central nervous system abnormalities, developmental
DE delays, and a propensity for seizures. Brain anomalies include
DE gyration defects ranging from lissencephaly to pachygyria and
DE polymicrogyria, and cerebellar hypoplasia. Most patients show facial
DE dysmorphism characterized by a small, narrow forehead, large/floppy
DE ears, deep-set eyes, hypertelorism and micrognathia. Additional
DE variable features are visual impairment and arachnodactyly. Most
DE patients die in early childhood. GAMOS7 inheritance is autosomal
DE recessive.
DR MIM; 618348; phenotype.
DR MedGen; CN258243.
DR MeSH; D008831.
DR MeSH; D009404.
DR MeSH; D009422.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Galloway-Mowat syndrome 8.
AC DI-05500
AR GAMOS8.
DE A form of Galloway-Mowat syndrome, a severe renal-neurological disease
DE characterized by early-onset nephrotic syndrome associated with
DE microcephaly, central nervous system abnormalities, developmental
DE delays, and a propensity for seizures. Brain anomalies include
DE gyration defects ranging from lissencephaly to pachygyria and
DE polymicrogyria, and cerebellar hypoplasia. Most patients show facial
DE dysmorphism characterized by a small, narrow forehead, large/floppy
DE ears, deep-set eyes, hypertelorism and micrognathia. Additional
DE variable features are visual impairment and arachnodactyly. Most
DE patients die in early childhood. GAMOS8 inheritance is autosomal
DE recessive.
DR MIM; 618349; phenotype.
DR MedGen; CN258244.
DR MeSH; D008831.
DR MeSH; D009404.
DR MeSH; D009422.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Galloway-Mowat syndrome 9.
AC DI-06183
AR GAMOS9.
DE A form of Galloway-Mowat syndrome, a severe renal-neurological disease
DE characterized by early-onset nephrotic syndrome associated with
DE microcephaly, central nervous system abnormalities, developmental
DE delays, and a propensity for seizures. Brain anomalies include
DE gyration defects ranging from lissencephaly to pachygyria and
DE polymicrogyria, and cerebellar hypoplasia. Most patients show facial
DE dysmorphism characterized by a small, narrow forehead, large/floppy
DE ears, deep-set eyes, and micrognathia. Additional variable features
DE are visual impairment and arachnodactyly. Most patients die in early
DE childhood. GAMOS9 inheritance is autosomal recessive.
DR MIM; 619603; phenotype.
DR MedGen; CN301228.
DR MeSH; D008831.
DR MeSH; D009404.
DR MeSH; D009422.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Gand syndrome.
AC DI-03650
AR GAND.
DE An autosomal dominant syndrome characterized by global developmental
DE delay with motor delay, moderate to severely impaired intellectual
DE development, and poor speech acquisition in most patients. Additional
DE features include hypotonia, feeding difficulties in infancy, and
DE dysmorphic features. More variable features may include seizures,
DE cardiac abnormalities, and non-specific findings on brain imaging.
SY MRD18.
DR MIM; 615074; phenotype.
DR MedGen; C3554448.
DR MedGen; CN165602.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID GAPO syndrome.
AC DI-03790
AR GAPOS.
DE An autosomal recessive disease characterized by growth retardation,
DE alopecia, failure of tooth eruption, and progressive optic atrophy in
DE some patients.
SY Growth retardation, alopecia, pseudoanodontia, and optic atrophy.
DR MIM; 230740; phenotype.
DR MedGen; C0406723.
DR MeSH; D000505.
DR MeSH; D000848.
DR MeSH; D006130.
KW KW-1063:Hypotrichosis.
//
ID Gastric adenocarcinoma and proximal polyposis of the stomach.
AC DI-06046
AR GAPPS.
DE A familial gastric polyposis syndrome characterized by autosomal
DE dominant transmission of fundic gland polyposis with occasional
DE hyperplastic and adenomatous polyps, sparing of the gastric antrum,
DE and a significant risk of intestinal-type gastric adenocarcinoma
DE development. Colorectal polyposis is not observed, and family history
DE does not include colorectal cancer.
SY Fundic gland polyposis.
SY Polyposis, gastric.
SY Polyposis of gastric fundus without polyposis coli.
DR MIM; 619182; phenotype.
DR MedGen; C4749917.
DR MeSH; D013274.
//
ID Gastric cancer.
AC DI-02971
AR GASC.
DE A malignant disease which starts in the stomach, can spread to the
DE esophagus or the small intestine, and can extend through the stomach
DE wall to nearby lymph nodes and organs. It also can metastasize to
DE other parts of the body. The term gastric cancer or gastric carcinoma
DE refers to adenocarcinoma of the stomach that accounts for most of all
DE gastric malignant tumors. Two main histologic types are recognized,
DE diffuse type and intestinal type carcinomas. Diffuse tumors are poorly
DE differentiated infiltrating lesions, resulting in thickening of the
DE stomach. In contrast, intestinal tumors are usually exophytic, often
DE ulcerating, and associated with intestinal metaplasia of the stomach,
DE most often observed in sporadic disease.
SY Gastric cancer intestinal.
SY Stomach cancer.
DR MIM; 613659; phenotype.
DR MedGen; C0699791.
DR MedGen; C3150911.
DR MeSH; D013274.
//
ID Gastrointestinal defects and immunodeficiency syndrome 1.
AC DI-03733
AR GIDID1.
DE An autosomal recessive congenital disorder in which obstructions occur
DE at various levels throughout the small and large intestines,
DE ultimately leading to organ failure. Surgical interventions are
DE palliative but do not provide long-term survival. Some patients
DE exhibit inflammatory bowel disease (IBD), with or without intestinal
DE atresia, and in some cases, the intestinal features are associated
DE with either mild or severe combined immunodeficiency.
SY Familial intestinal polyatresia syndrome.
SY FIPA.
SY Gastrointestinal defects and immunodeficiency syndrome.
SY GIDID.
SY Intestinal atresia, multiple.
SY Intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency.
SY MIA.
SY MINAT.
SY Multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency.
DR MIM; 243150; phenotype.
DR MedGen; C0220744.
DR MeSH; D007409.
//
ID Gastrointestinal defects and immunodeficiency syndrome 2.
AC DI-06318
AR GIDID2.
DE A severe autosomal recessive disorder characterized by multiple
DE intestinal atresia apparent soon after birth. Affected infants have a
DE distended abdomen, bowel obstruction and do not pass meconium. There
DE is some evidence of inflammatory bowel disease. Death occurs in the
DE first weeks of life. Some patients may also have immunodeficiency.
SY Multiple intestinal atresia with or without leukopenia.
DR MIM; 619708; phenotype.
DR MedGen; CN306133.
DR MeSH; D007409.
//
ID Gastrointestinal stromal tumor.
AC DI-01646
AR GIST.
DE Common mesenchymal neoplasms arising in the gastrointestinal tract,
DE most often in the stomach. They are histologically,
DE immunohistochemically, and genetically different from typical
DE leiomyomas, leiomyosarcomas, and schwannomas. Most GISTs are composed
DE of a fairly uniform population of spindle-shaped cells. Some tumors
DE are dominated by epithelioid cells or contain a mixture of spindle and
DE epithelioid morphologies. Primary GISTs in the gastrointestinal tract
DE commonly metastasize in the omentum and mesenteries, often as multiple
DE nodules. However, primary tumors may also occur outside of the
DE gastrointestinal tract, in other intra-abdominal locations, especially
DE in the omentum and mesentery.
DR MIM; 606764; phenotype.
DR MedGen; C0238198.
DR MeSH; D046152.
//
ID Gastrointestinal ulceration, recurrent, with dysfunctional platelets.
AC DI-05517
AR GURDP.
DE An autosomal recessive disorder characterized by recurrent
DE gastrointestinal mucosal ulcers, gastrointestinal bleeding, chronic
DE anemia, iron deficiency, and abdominal pain. Disease features also
DE include platelet dysfunction, and globally decreased eicosanoid
DE synthesis.
SY Deficiency of phospholipase A2, group IVA.
DR MIM; 618372; phenotype.
DR MedGen; C3888207.
DR MeSH; D008661.
DR MeSH; D014456.
//
ID Gaucher disease.
AC DI-03092
AR GD.
DE A lysosomal storage disease due to deficient activity of beta-
DE glucocerebrosidase and characterized by accumulation of
DE glucosylceramide in the reticulo-endothelial system. Different
DE clinical forms are recognized depending on the presence (neuronopathic
DE forms) or absence of central nervous system involvement, severity and
DE age of onset.
SY Acid beta-glucosidase deficiency.
SY GBA deficiency.
SY Glucocerebrosidase deficiency.
DR MIM; 230800; phenotype.
DR MedGen; C0017205.
DR MeSH; D005776.
//
ID Gaucher disease 1.
AC DI-01647
AR GD1.
DE A form of Gaucher disease characterized by hepatosplenomegaly with
DE consequent anemia and thrombopenia, and bone involvement. The central
DE nervous system is not involved.
SY Adult non-neuronopathic Gaucher disease.
SY Gaucher disease type I.
SY GD I.
SY Noncerebral juvenile Gaucher disease.
DR MIM; 230800; phenotype.
DR MedGen; C1961835.
DR MeSH; D005776.
//
ID Gaucher disease 2.
AC DI-01648
AR GD2.
DE The most severe form of Gaucher disease. It manifests soon after
DE birth, with death generally occurring before patients reach two years
DE of age.
SY Acute neuronopathic Gaucher disease.
SY Gaucher disease type II.
SY GD II.
DR MIM; 230900; phenotype.
DR MedGen; C0268250.
DR MeSH; D005776.
//
ID Gaucher disease 3.
AC DI-01649
AR GD3.
DE A subacute form of neuronopathic Gaucher disease. It has later onset
DE and slower progression compared to the acute form of neuronopathic
DE Gaucher disease 2.
SY Cerebral, juvenile and adult, Gaucher disease.
SY Gaucher disease chronic neuronopathic type.
SY Gaucher disease type II.
SY GD III.
SY Subacute neuronopathic Gaucher disease.
DR MIM; 231000; phenotype.
DR MedGen; C0268251.
DR MedGen; C1856491.
DR MedGen; C1856492.
DR MedGen; C1856493.
DR MeSH; D005776.
//
ID Gaucher disease 3C.
AC DI-01650
AR GD3C.
DE A variant of subacute neuronopathic Gaucher disease 3 associated with
DE cardiovascular calcifications.
SY Gaucher-like disease.
SY Pseudo-Gaucher disease.
DR MIM; 231005; phenotype.
DR MedGen; C1856476.
DR MeSH; D005776.
//
ID Gaucher disease perinatal lethal.
AC DI-02151
AR GDPL.
DE Distinct form of Gaucher disease type 2, characterized by fetal onset.
DE Hydrops fetalis, in utero fetal death and neonatal distress are
DE prominent features. When hydrops is absent, neurologic involvement
DE begins in the first week and leads to death within 3 months.
DE Hepatosplenomegaly is a major sign, and is associated with ichthyosis,
DE arthrogryposis, and facial dysmorphism.
DR MIM; 608013; phenotype.
DR MedGen; C1842704.
//
ID Gaucher disease, atypical, due to saposin C deficiency.
AC DI-01196
AR AGD.
DE A disease characterized by marked glucosylceramide accumulation in the
DE spleen without having a deficiency of glucosylceramide-beta
DE glucosidase characteristic of classic Gaucher disease. Gaucher disease
DE is a lysosomal storage disorder characterized by skeletal
DE deterioration, hepatosplenomegaly, and organ dysfunction. There are
DE several subtypes based on the presence and severity of neurological
DE involvement.
DR MIM; 610539; phenotype.
DR MedGen; C1864651.
DR MeSH; D005776.
//
ID Gaze palsy, familial horizontal, with progressive scoliosis, 1.
AC DI-01576
AR HGPPS1.
DE An autosomal recessive neurologic disorder characterized by eye
DE movement abnormalities apparent from birth, childhood-onset
DE progressive scoliosis, distinctive brainstem malformation and
DE defective crossing of some brainstem neuronal pathways.
SY Familial horizontal gaze palsy with progressive scoliosis.
SY HGPPS.
DR MIM; 607313; phenotype.
DR MedGen; C1846496.
DR MeSH; D012600.
DR MeSH; D015835.
//
ID Gaze palsy, familial horizontal, with progressive scoliosis, 2, with impaired intellectual development.
AC DI-05031
AR HGPPS2.
DE An autosomal recessive neurologic disorder characterized by global
DE developmental delay, delayed walking, intellectual disability,
DE horizontal gaze palsy, and childhood-onset progressive scoliosis.
DR MIM; 617542; phenotype.
DR MedGen; CN292981.
DR MeSH; D012600.
DR MeSH; D015835.
KW KW-0991:Intellectual disability.
//
ID Geleophysic dysplasia 1.
AC DI-01652
AR GPHYSD1.
DE An autosomal recessive disorder characterized by severe short stature,
DE short hands and feet, joint limitations, and skin thickening.
DE Radiologic features include delayed bone age, cone-shaped epiphyses,
DE shortened long tubular bones, and ovoid vertebral bodies. Affected
DE individuals have characteristic facial features including a 'happy'
DE face with full cheeks, shortened nose, hypertelorism, long and flat
DE philtrum, and thin upper lip. Other distinctive features include
DE progressive cardiac valvular thickening often leading to an early
DE death, toe walking, tracheal stenosis, respiratory insufficiency, and
DE lysosomal-like storage vacuoles in various tissues.
SY Geleophysic dwarfism.
DR MIM; 231050; phenotype.
DR MedGen; C3278147.
DR MeSH; D004392.
KW KW-0242:Dwarfism.
//
ID Geleophysic dysplasia 2.
AC DI-03224
AR GPHYSD2.
DE An autosomal dominant disorder characterized by severe short stature,
DE short hands and feet, joint limitations, and skin thickening.
DE Radiologic features include delayed bone age, cone-shaped epiphyses,
DE shortened long tubular bones, and ovoid vertebral bodies. Affected
DE individuals have characteristic facial features including a 'happy'
DE face with full cheeks, shortened nose, hypertelorism, long and flat
DE philtrum, and thin upper lip. Other distinctive features include
DE progressive cardiac valvular thickening often leading to an early
DE death, toe walking, tracheal stenosis, respiratory insufficiency, and
DE lysosomal-like storage vacuoles in various tissues.
SY Geleophysic dwarfism.
DR MIM; 614185; phenotype.
DR MedGen; C3280054.
DR MeSH; D004392.
KW KW-0242:Dwarfism.
//
ID Geleophysic dysplasia 3.
AC DI-05159
AR GPHYSD3.
DE A form of geleophysic dysplasia, a rare skeletal disease characterized
DE by severe short stature, short hands and feet, and joint limitations.
DE Radiologic features include delayed bone age, cone-shaped epiphyses,
DE shortened long tubular bones, and ovoid vertebral bodies. Affected
DE individuals have characteristic facial features including a 'happy'
DE face with full cheeks, shortened nose, hypertelorism, long and flat
DE philtrum, and thin upper lip. Other distinctive features include skin
DE thickening, progressive cardiac valvular thickening often leading to
DE an early death, toe walking, tracheal stenosis, respiratory
DE insufficiency, and lysosomal-like storage vacuoles in various tissues.
DE GPHYSD3 inheritance is autosomal dominant.
DR MIM; 617809; phenotype.
DR MedGen; CN696019.
DR MeSH; D004392.
KW KW-0242:Dwarfism.
//
ID Generalized atrophic benign epidermolysis bullosa.
AC DI-00502
AR GABEB.
DE A non-lethal, adult form of junctional epidermolysis bullosa
DE characterized by life-long blistering of the skin, associated with
DE hair and tooth abnormalities.
SY Epidermolysis bullosa atrophicans generalisata mitis.
SY Epidermolysis bullosa junctionalis Disentis type.
SY Epidermolysis bullosa junctionalis progressive.
SY Epidermolysis bullosa junctionalis severe non-lethal.
SY Generalized junctional epidermolysis bullosa mitis.
SY Non-Herlitz junctional epidermolysis bullosa.
DR MIM; 226650; phenotype.
DR MedGen; C0079297.
DR MedGen; C0079301.
DR MedGen; C0268374.
DR MedGen; C2608084.
DR MedGen; C2673609.
DR MedGen; C2673610.
DR MeSH; D016109.
KW KW-0263:Epidermolysis bullosa.
//
ID Generalized epilepsy with febrile seizures plus 1.
AC DI-00505
AR GEFS+1.
DE A rare autosomal dominant, familial condition with incomplete
DE penetrance and large intrafamilial variability. Patients display
DE febrile seizures persisting sometimes beyond the age of 6 years and/or
DE a variety of afebrile seizure types. This disease combines febrile
DE seizures, generalized seizures often precipitated by fever at age 6
DE years or more, and partial seizures, with a variable degree of
DE severity.
SY GEFS+ type 1.
SY GEFSP1.
DR MIM; 604233; phenotype.
DR MedGen; C1858672.
DR MeSH; D003294.
DR MeSH; D004829.
KW KW-0887:Epilepsy.
//
ID Generalized epilepsy with febrile seizures plus 10.
AC DI-05599
AR GEFSP10.
DE An autosomal dominant neurologic disorder with incomplete penetrance,
DE characterized by variable types of seizures including absence, tonic-
DE clonic, febrile, focal, and eyelid myoclonia. Some patients have
DE normal neurologic development. Others have mild-to-moderate
DE intellectual disability or autism spectrum disorder.
SY GEFS+, type 10.
SY GEFS+10.
SY Generalized epilepsy with febrile seizures plus, type 10.
DR MIM; 618482; phenotype.
DR MedGen; CN260572.
DR MeSH; D003294.
DR MeSH; D004829.
KW KW-0887:Epilepsy.
//
ID Generalized epilepsy with febrile seizures plus 2.
AC DI-00506
AR GEFS+2.
DE A rare autosomal dominant, familial condition with incomplete
DE penetrance and large intrafamilial variability. Patients display
DE febrile seizures persisting sometimes beyond the age of 6 years and/or
DE a variety of afebrile seizure types. This disease combines febrile
DE seizures, generalized seizures often precipitated by fever at age 6
DE years or more, and partial seizures, with a variable degree of
DE severity.
SY GEFS+ type 2.
SY GEFSP2.
DR MIM; 604403; phenotype.
DR MedGen; C1858673.
DR MeSH; D003294.
DR MeSH; D004829.
KW KW-0887:Epilepsy.
//
ID Generalized epilepsy with febrile seizures plus 3.
AC DI-00507
AR GEFS+3.
DE A rare autosomal dominant, familial condition with incomplete
DE penetrance and large intrafamilial variability. Patients display
DE febrile seizures persisting sometimes beyond the age of 6 years and/or
DE a variety of afebrile seizure types. This disease combines febrile
DE seizures, generalized seizures often precipitated by fever at age 6
DE years or more, and partial seizures, with a variable degree of
DE severity.
SY GEFS+ type 3.
SY GEFSP3.
DR MIM; 607681; phenotype.
DR MedGen; C1858674.
DR MeSH; D003294.
DR MeSH; D004829.
KW KW-0887:Epilepsy.
//
ID Generalized epilepsy with febrile seizures plus 5.
AC DI-00508
AR GEFS+5.
DE A rare autosomal dominant, familial condition with incomplete
DE penetrance and large intrafamilial variability. Patients display
DE febrile seizures persisting sometimes beyond the age of 6 years and/or
DE a variety of afebrile seizure types. This disease combines febrile
DE seizures, generalized seizures often precipitated by fever at age 6
DE years or more, and partial seizures, with a variable degree of
DE severity.
SY GEFS+ type 5.
SY GEFSP5.
DR MIM; 613060; phenotype.
DR MedGen; C3150398.
DR MedGen; C3150399.
DR MedGen; C3150401.
DR MeSH; D003294.
DR MeSH; D004829.
KW KW-0887:Epilepsy.
//
ID Generalized epilepsy with febrile seizures plus 7.
AC DI-02931
AR GEFS+7.
DE A rare autosomal dominant, familial condition with incomplete
DE penetrance and large intrafamilial variability. Patients display
DE febrile seizures persisting sometimes beyond the age of 6 years and/or
DE a variety of afebrile seizure types. This disease combines febrile
DE seizures, generalized seizures often precipitated by fever at age 6
DE years or more, and partial seizures, with a variable degree of
DE severity.
SY GEFS+ type 7.
SY GEFSP7.
DR MIM; 613863; phenotype.
DR MedGen; C2751777.
DR MedGen; C2751778.
DR MeSH; D003294.
DR MeSH; D004829.
KW KW-0887:Epilepsy.
//
ID Generalized epilepsy with febrile seizures plus 9.
AC DI-04300
AR GEFSP9.
DE An autosomal dominant neurologic disorder characterized by febrile
DE and/or afebrile seizures manifesting in early childhood. Seizure are
DE variable and include generalized tonic-clonic, atonic, myoclonic,
DE complex partial, and absence types. Most patients have remission of
DE seizures later in childhood with no residual neurologic deficits.
DE Rarely, patients may show mild developmental delay or mild
DE intellectual disabilities.
SY GEFS+9.
SY GEFS+ type 9.
SY Generalized epilepsy with febrile seizures plus, type 9.
DR MIM; 616172; phenotype.
DR MedGen; CN224991.
DR MeSH; D003294.
DR MeSH; D004829.
KW KW-0887:Epilepsy.
//
ID Genitopatellar syndrome.
AC DI-03437
AR GTPTS.
DE A rare disorder consisting of microcephaly, severe psychomotor
DE retardation, and characteristic coarse facial features, including
DE broad nose and small or retracted chin, associated with congenital
DE flexion contractures of the lower extremities, abnormal or missing
DE patellae, and urogenital anomalies.
DR MIM; 606170; phenotype.
DR MedGen; C1853566.
DR MeSH; D000015.
//
ID Genitourinary and/or brain malformation syndrome.
AC DI-05791
AR GUBS.
DE An autosomal dominant syndrome characterized by multiple congenital
DE anomalies including urogenital malformations and brain abnormalities
DE ranging from agenesis of the corpus callosum to anencephaly.
DR MIM; 618820; phenotype.
DR MedGen; CN263373.
DR MeSH; D001927.
DR MeSH; D014564.
//
ID Geroderma osteodysplasticum.
AC DI-00509
AR GO.
DE A rare autosomal recessive disorder characterized by lax, wrinkled
DE skin, joint laxity and a typical face with a prematurely aged
DE appearance. Skeletal signs include severe osteoporosis leading to
DE frequent fractures, malar and mandibular hypoplasia and a variable
DE degree of growth retardation.
SY Gerodermia osteodysplastica.
SY Walt Disney dwarfism.
DR MIM; 231070; phenotype.
DR MedGen; C0432255.
DR MeSH; D004392.
DR MeSH; D012873.
KW KW-0242:Dwarfism.
//
ID Gerstmann-Straussler disease.
AC DI-01656
AR GSD.
DE A rare inherited prion disease characterized by adult onset of memory
DE loss, dementia, ataxia, and pathologic deposition of amyloid-like
DE plaques in the brain. GSD presents with progressive limb and truncal
DE ataxia, dysarthria, and cognitive decline in the thirties and forties,
DE and the average disease duration is 7 years.
SY Cerebellar ataxia, progressive dementia, and amyloid deposits in CNS.
SY Cerebral amyloidosis with spongiform encephalopathy.
SY Gerstmann-Straussler-Scheinker disease.
SY GSS.
SY Prion dementia.
SY Subacute spongiform encephalopathy Gerstmann-Straussler type.
DR MIM; 137440; phenotype.
DR MedGen; C0017495.
DR MeSH; D016098.
KW KW-1008:Amyloidosis.
//
ID Ghosal hematodiaphyseal dysplasia.
AC DI-01657
AR GHDD.
DE Rare autosomal recessive disorder characterized by increased bone
DE density with predominant diaphyseal involvement and aregenerative
DE corticosteroid-sensitive anemia. Aregenerative anemia is characterized
DE by bone marrow failure, so that functional marrow cells are
DE regenerated slowly or not at all.
DR MIM; 231095; phenotype.
DR MedGen; C1856465.
//
ID Giant axonal neuropathy 1, autosomal recessive.
AC DI-01658
AR GAN1.
DE A severe autosomal recessive sensorimotor neuropathy affecting both
DE the peripheral nerves and the central nervous system. Axonal loss and
DE the presence of giant axonal swellings filled with neurofilaments on
DE nerve biopsies are the hallmarks of this neurodegenerative disorder.
SY GAN.
DR MIM; 256850; phenotype.
DR MedGen; C1850386.
DR MeSH; D015417.
KW KW-0523:Neurodegeneration.
KW KW-0622:Neuropathy.
//
ID Giant axonal neuropathy 2, autosomal dominant.
AC DI-04139
AR GAN2.
DE An autosomal dominant peripheral axonal neuropathy characterized by
DE onset of distal sensory impairment with lower extremity muscle
DE weakness and atrophy after the second decade. Clinical features
DE include foot deformities apparent in childhood, and cardiomyopathy in
DE severely affected individuals. Sural nerve biopsy shows giant axonal
DE swelling with neurofilament accumulation.
SY HMSN2 with neurofilament accumulations and infrequent giant axons.
DR MIM; 610100; phenotype.
DR MedGen; C1864695.
DR MeSH; D015417.
KW KW-0523:Neurodegeneration.
KW KW-0622:Neuropathy.
//
ID Gilbert syndrome.
AC DI-01659
AR GILBS.
DE Occurs as a consequence of reduced bilirubin transferase activity and
DE is often detected in young adults with vague non-specific complaints.
DR MIM; 143500; phenotype.
DR MedGen; C0017551.
//
ID Gilles de la Tourette syndrome.
AC DI-01660
AR GTS.
DE Neurologic disorder manifested particularly by motor and vocal tics
DE and associated with behavioral abnormalities.
DR MIM; 137580; phenotype.
DR MedGen; C0040517.
DR MedGen; C1392622.
//
ID Gillespie syndrome.
AC DI-01661
AR GLSP.
DE A rare disease characterized by bilateral iris hypoplasia, congenital
DE hypotonia, non-progressive ataxia, progressive cerebellar atrophy, and
DE intellectual disability.
SY Aniridia, cerebellar ataxia and mental deficiency.
DR MIM; 206700; phenotype.
DR MedGen; C0431401.
DR MeSH; D002524.
DR MeSH; D008607.
DR MeSH; D015783.
KW KW-0991:Intellectual disability.
//
ID Gillessen-Kaesbach-Nishimura syndrome.
AC DI-04737
AR GIKANIS.
DE A rare autosomal recessive syndrome characterized by severe skeletal
DE dysplasia, facial dysmorphic features, polycystic kidney disease and
DE other visceral malformations. It may be lethal in utero or early in
DE life. The skeletal features uniformly comprise a round pelvis,
DE mesomelic shortening of the upper limbs and defective ossification of
DE the cervical spine.
SY Polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia.
DR MIM; 263210; phenotype.
DR MedGen; C1849762.
DR MeSH; D004480.
DR MeSH; D006972.
DR MeSH; D017044.
KW KW-0900:Congenital disorder of glycosylation.
//
ID GIST-plus syndrome.
AC DI-05623
AR GISTPS.
DE A disorder characterized by multiple mesenchymal tumors of the
DE gastrointestinal tract, including gastrointestinal stromal tumor,
DE inflammatory fibroid polyps, and fibroid tumors. Additional features
DE are coarse facies and skin, broad hands and feet, and premature tooth
DE loss. GISTPS is an autosomal dominant disease with incomplete
DE penetrance. Gastrointestinal stromal tumor and inflammatory fibroid
DE polyps may also occur in isolation.
SY Gastrointestinal stromal tumor/GIST-plus syndrome.
SY Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal.
DR MIM; 175510; phenotype.
DR MedGen; C1868000.
DR MeSH; D046152.
//
ID Gitelman syndrome.
AC DI-00510
AR GTLMNS.
DE An autosomal recessive disorder characterized by hypokalemic alkalosis
DE in combination with hypomagnesemia, low urinary calcium, and increased
DE renin activity associated with normal blood pressure. Patients are
DE often asymptomatic or present transient periods of muscular weakness
DE and tetany, usually accompanied by abdominal pain, vomiting and fever.
DE The phenotype is highly heterogeneous in terms of age at onset and
DE severity. Cardinal features such as hypocalciuria and hypomagnesemia
DE might also change during the life cycle of a given patient. It has
DE overlapping features with Bartter syndrome.
SY Bartter syndrome Gitelman variant.
SY Bartter syndrome hypocalciuric variant.
SY Potassium and magnesium depletion.
SY Primary renotubular hypomagnesemia-hypokalemia with hypocalciuria.
DR MIM; 263800; phenotype.
DR MedGen; C0268450.
DR MedGen; C2930816.
DR MeSH; D053579.
//
ID Glanzmann thrombasthenia 1.
AC DI-01664
AR GT1.
DE A form of Glanzmann thrombasthenia, a disorder characterized by
DE failure of platelet aggregation, absent or diminished clot retraction,
DE and mucocutaneous bleeding of mild-to-moderate severity. Glanzmann
DE thrombasthenia has been classified into clinical types I and II. In
DE type I, platelets show absence of glycoprotein IIb-IIIa complexes at
DE their surface and lack fibrinogen and clot retraction capability. In
DE type II, the platelets express glycoprotein IIb-IIIa complexes at
DE reduced levels, have detectable amounts of fibrinogen, and have low or
DE moderate clot retraction capability. GT1 inheritance is autosomal
DE recessive.
SY BDPLT2.
SY Bleeding disorder platelet-type 2.
SY Deficiency of platelet fibrinogen receptor.
SY Glycoprotein complex IIb-IIIa deficiency.
SY Platelet glycoprotein IIb-IIIa deficiency.
SY Thrombasthenia of Glanzmann and Naegeli.
DR MIM; 273800; phenotype.
DR MedGen; C0040015.
DR MeSH; D013915.
//
ID Glanzmann thrombasthenia 2.
AC DI-06076
AR GT2.
DE A form of Glanzmann thrombasthenia, a disorder characterized by
DE failure of platelet aggregation, absent or diminished clot retraction,
DE and mucocutaneous bleeding of mild-to-moderate severity. Glanzmann
DE thrombasthenia has been classified into clinical types I and II. In
DE type I, platelets show absence of glycoprotein IIb-IIIa complexes at
DE their surface and lack fibrinogen and clot retraction capability. In
DE type II, the platelets express glycoprotein IIb-IIIa complexes at
DE reduced levels, have detectable amounts of fibrinogen, and have low or
DE moderate clot retraction capability.
SY BDPLT23.
SY Bleeding disorder, platelet-type, 23.
DR MIM; 619267; phenotype.
DR MedGen; CN296334.
DR MeSH; D013915.
//
ID Glaucoma 1, open angle, A.
AC DI-00937
AR GLC1A.
DE A form of primary open angle glaucoma (POAG). POAG is characterized by
DE a specific pattern of optic nerve and visual field defects. The angle
DE of the anterior chamber of the eye is open, and usually the
DE intraocular pressure is increased. However, glaucoma can occur at any
DE intraocular pressure. The disease is generally asymptomatic until the
DE late stages, by which time significant and irreversible optic nerve
DE damage has already taken place.
SY JOAG1.
SY Juvenile-onset primary open angle glaucoma 1.
SY Primary open angle glaucoma 1A.
DR MIM; 137750; phenotype.
DR MedGen; C1842028.
DR MeSH; D005902.
KW KW-0955:Glaucoma.
//
ID Glaucoma 1, open angle, E.
AC DI-00938
AR GLC1E.
DE A form of primary open angle glaucoma (POAG). POAG is characterized by
DE a specific pattern of optic nerve and visual field defects. The angle
DE of the anterior chamber of the eye is open, and usually the
DE intraocular pressure is increased. However, glaucoma can occur at any
DE intraocular pressure. The disease is generally asymptomatic until the
DE late stages, by which time significant and irreversible optic nerve
DE damage has already taken place.
SY Adult-onset primary open angle glaucoma.
SY POAG.
SY Primary open angle glaucoma 1E.
DR MIM; 137760; phenotype.
DR MedGen; C1842026.
DR MeSH; D005902.
KW KW-0955:Glaucoma.
//
ID Glaucoma 1, open angle, F.
AC DI-03767
AR GLC1F.
DE A form of primary open angle glaucoma (POAG). POAG is characterized by
DE a specific pattern of optic nerve and visual field defects. The angle
DE of the anterior chamber of the eye is open, and usually the
DE intraocular pressure is increased. However, glaucoma can occur at any
DE intraocular pressure. The disease is generally asymptomatic until the
DE late stages, by which time significant and irreversible optic nerve
DE damage has already taken place.
SY Adult-onset primary open angle glaucoma.
SY POAG.
SY Primary open angle glaucoma 1F.
DR MIM; 603383; phenotype.
DR MedGen; C1863926.
DR MeSH; D005902.
KW KW-0955:Glaucoma.
//
ID Glaucoma 1, open angle, G.
AC DI-00939
AR GLC1G.
DE A form of primary open angle glaucoma (POAG). POAG is characterized by
DE a specific pattern of optic nerve and visual field defects. The angle
DE of the anterior chamber of the eye is open, and usually the
DE intraocular pressure is increased. However, glaucoma can occur at any
DE intraocular pressure. The disease is generally asymptomatic until the
DE late stages, by which time significant and irreversible optic nerve
DE damage has already taken place.
SY Primary open angle glaucoma 1G.
DR MIM; 609887; phenotype.
DR MedGen; C1835933.
DR MeSH; D005902.
KW KW-0955:Glaucoma.
//
ID Glaucoma 1, open angle, O.
AC DI-02594
AR GLC1O.
DE A form of primary open angle glaucoma (POAG). POAG is characterized by
DE a specific pattern of optic nerve and visual field defects. The angle
DE of the anterior chamber of the eye is open, and usually the
DE intraocular pressure is increased. However, glaucoma can occur at any
DE intraocular pressure. The disease is generally asymptomatic until the
DE late stages, by which time significant and irreversible optic nerve
DE damage has already taken place.
SY Primary open angle glaucoma 1O.
DR MIM; 613100; phenotype.
DR MedGen; C2751294.
DR MeSH; D005902.
KW KW-0955:Glaucoma.
//
ID Glaucoma 1, open angle, P.
AC DI-03709
AR GLC1P.
DE A form of primary open angle glaucoma (POAG). POAG is characterized by
DE a specific pattern of optic nerve and visual field defects. The angle
DE of the anterior chamber of the eye is open, and usually the
DE intraocular pressure is increased. However, glaucoma can occur at any
DE intraocular pressure. The disease is generally asymptomatic until the
DE late stages, by which time significant and irreversible optic nerve
DE damage has already taken place. GLC1P is characterized by early onset,
DE thin central corneas and low intraocular pressure.
SY Primary open angle glaucoma 1P.
DR MIM; 177700; phenotype.
DR MedGen; C1867465.
DR MeSH; D005902.
KW KW-0955:Glaucoma.
//
ID Glaucoma 3, primary congenital, A.
AC DI-00935
AR GLC3A.
DE An autosomal recessive form of primary congenital glaucoma (PCG). PCG
DE is characterized by marked increase of intraocular pressure at birth
DE or early childhood, large ocular globes (buphthalmos) and corneal
DE edema. It results from developmental defects of the trabecular
DE meshwork and anterior chamber angle of the eye that prevent adequate
DE drainage of aqueous humor.
SY Buphthalmos.
SY Congenital glaucoma.
SY Glaucoma, primary open angle, adult-onset.
SY Glaucoma, primary open angle, juvenile-onset.
SY Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset.
SY GLC3.
SY Primary congenital glaucoma 3A.
SY Primary infantile glaucoma type 3A.
DR MIM; 231300; phenotype.
DR MedGen; C0020302.
DR MedGen; C1856439.
DR MedGen; C3278153.
DR MeSH; D005901.
KW KW-0955:Glaucoma.
//
ID Glaucoma 3, primary congenital, D.
AC DI-02595
AR GLC3D.
DE An autosomal recessive form of primary congenital glaucoma (PCG). PCG
DE is characterized by marked increase of intraocular pressure at birth
DE or early childhood, large ocular globes (buphthalmos) and corneal
DE edema. It results from developmental defects of the trabecular
DE meshwork and anterior chamber angle of the eye that prevent adequate
DE drainage of aqueous humor.
SY Primary congenital glaucoma 3D.
DR MIM; 613086; phenotype.
DR MedGen; C2751316.
DR MeSH; D005901.
KW KW-0955:Glaucoma.
//
ID Glaucoma 3, primary congenital, E.
AC DI-04901
AR GLC3E.
DE An autosomal dominant form of primary congenital glaucoma (PCG). PCG
DE is characterized by marked increase of intraocular pressure at birth
DE or early childhood, large ocular globes (buphthalmos) and corneal
DE edema. It results from developmental defects of the trabecular
DE meshwork and anterior chamber angle of the eye that prevent adequate
DE drainage of aqueous humor.
DR MIM; 617272; phenotype.
DR MedGen; CN239932.
DR MeSH; D005901.
KW KW-0955:Glaucoma.
//
ID Glaucoma, normal pressure.
AC DI-00879
AR NPG.
DE A primary glaucoma characterized by intraocular pression consistently
DE within the statistically normal population range.
SY Normal tension glaucoma.
SY NTG.
DR MIM; 606657; phenotype.
DR MedGen; C1847730.
DR MeSH; D005901.
KW KW-0955:Glaucoma.
//
ID Glaucoma, primary closed-angle.
AC DI-05838
AR GLCC.
DE An autosomal dominant form of primary glaucoma, an ocular disease
DE characterized by a marked increase of intraocular pressure causing
DE damage to eye structures and function. GLCC is characterized by
DE elevated intraocular pressure due to iridocorneal angle closure with
DE retention of the aqueous humor in the anterior chamber. Iridocorneal
DE angle changes are apparent in the fourth to fifth decade of life, and
DE patients manifest age-related variation in the severity of
DE glaucomatous damage.
SY Primary angle-closure glaucoma.
DR MIM; 618880; phenotype.
DR MedGen; CN280897.
DR MeSH; D015812.
KW KW-0955:Glaucoma.
//
ID Glaucoma, primary open angle.
AC DI-00936
AR POAG.
DE A complex and genetically heterogeneous ocular disorder characterized
DE by a specific pattern of optic nerve and visual field defects. The
DE angle of the anterior chamber of the eye is open, and usually the
DE intraocular pressure is increased. However, glaucoma can occur at any
DE intraocular pressure. The disease is generally asymptomatic until the
DE late stages, by which time significant and irreversible optic nerve
DE damage has already taken place. In some cases, POAG shows digenic
DE inheritance involving mutations in CYP1B1 and MYOC genes.
SY Adult-onset primary open angle glaucoma.
DR MIM; 137760; phenotype.
DR MedGen; C0339573.
DR MeSH; D005902.
KW KW-0955:Glaucoma.
//
ID Glioma.
AC DI-02566
AR GLM.
DE Gliomas are benign or malignant central nervous system neoplasms
DE derived from glial cells. They comprise astrocytomas and glioblastoma
DE multiforme that are derived from astrocytes, oligodendrogliomas
DE derived from oligodendrocytes and ependymomas derived from
DE ependymocytes.
SY Astrocytoma.
SY Familial glioma of brain.
SY GBM.
SY Glioblastoma multiforme.
SY GLM.
SY Oligodendroglioma.
DR MIM; 137800; phenotype.
DR MedGen; C0004114.
DR MedGen; C0028945.
DR MedGen; C0751396.
DR MedGen; C1621958.
DR MedGen; C1842010.
DR MeSH; D005910.
//
ID Glioma 1.
AC DI-01665
AR GLM1.
DE Gliomas are benign or malignant central nervous system neoplasms
DE derived from glial cells. They comprise astrocytomas and glioblastoma
DE multiforme that are derived from astrocytes, oligodendrogliomas
DE derived from oligodendrocytes and ependymomas derived from
DE ependymocytes.
DR MIM; 137800; phenotype.
DR MedGen; C2750850.
DR MeSH; D005910.
//
ID Glioma 2.
AC DI-02567
AR GLM2.
DE Gliomas are benign or malignant central nervous system neoplasms
DE derived from glial cells. They comprise astrocytomas and glioblastoma
DE multiforme that are derived from astrocytes, oligodendrogliomas
DE derived from oligodendrocytes and ependymomas derived from
DE ependymocytes.
DR MIM; 613028; phenotype.
DR MedGen; C2751642.
DR MeSH; D005910.
//
ID Glioma 3.
AC DI-02629
AR GLM3.
DE Gliomas are benign or malignant central nervous system neoplasms
DE derived from glial cells. They comprise astrocytomas and glioblastoma
DE multiforme that are derived from astrocytes, oligodendrogliomas
DE derived from oligodendrocytes and ependymomas derived from
DE ependymocytes.
DR MIM; 613029; phenotype.
DR MedGen; C2751641.
DR MeSH; D005910.
//
ID Glioma 9.
AC DI-04515
AR GLM9.
DE Gliomas are benign or malignant central nervous system neoplasms
DE derived from glial cells. They comprise astrocytomas and glioblastoma
DE multiforme that are derived from astrocytes, oligodendrogliomas
DE derived from oligodendrocytes and ependymomas derived from
DE ependymocytes.
DR MIM; 616568; phenotype.
DR MedGen; CN232947.
DR MeSH; D005910.
//
ID Global developmental delay with or without impaired intellectual development.
AC DI-05485
AR GDDI.
DE An autosomal dominant disorder characterized by global developmental
DE delay associated with mild-to-moderate intellectual disability,
DE hypotonia and short stature in some patients.
DR MIM; 618330; phenotype.
DR MedGen; CN258211.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Global developmental delay with speech and behavioral abnormalities.
AC DI-06063
AR GDSBA.
DE An autosomal dominant disorder manifesting in infancy or early
DE childhood. It is characterized by mildly delayed fine and motor
DE skills, mildly impaired intellectual development, speech and language
DE delay, and variable behavioral abnormalities, mostly autism and
DE attention-deficit hyperactivity disorder. Additional non-specific
DE features include facial dysmorphism, myopia or strabismus, and
DE skeletal defects.
DR MIM; 619243; phenotype.
DR MedGen; CN296018.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
KW KW-1268:Autism spectrum disorder.
//
ID Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies.
AC DI-04903
AR GDACCF.
DE An autosomal dominant syndrome characterized by underdevelopment of
DE the corpus callosum, mild to moderate developmental delay and
DE intellectual disability, variable microcephaly or mild macrocephaly,
DE short stature, feeding problems, facial dysmorphisms, and cardiac and
DE renal malformations.
DR MIM; 617260; phenotype.
DR MedGen; CN239944.
DR MeSH; D002658.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
//
ID Global developmental delay, lung cysts, overgrowth, and Wilms tumor.
AC DI-05455
AR GLOW.
DE A disease characterized by the association of congenital nephromegaly,
DE bilateral Wilms tumor, somatic overgrowth, developmental delay,
DE macrocephaly, and bilateral lung cysts.
SY GLOW syndrome.
DR MIM; 618272; phenotype.
DR MedGen; CN257964.
DR MeSH; D002658.
DR MeSH; D008171.
DR MeSH; D009396.
//
ID Global developmental delay, progressive ataxia, and elevated glutamine.
AC DI-05561
AR GDPAG.
DE An autosomal recessive disease characterized by early-onset delay in
DE motor skills, delayed speech, progressive ataxia, and neurologic
DE deterioration. Plasma glutamine is persistently elevated by a factor
DE of 2.5 despite normal plasma ammonia levels.
SY Glutaminase deficiency with impaired intellectual development and progressive ataxia.
DR MIM; 618412; phenotype.
DR MedGen; CN258346.
DR MeSH; D065886.
//
ID Glomerulopathy with fibronectin deposits 2.
AC DI-01667
AR GFND2.
DE Genetically heterogeneous autosomal dominant disorder characterized
DE clinically by proteinuria, microscopic hematuria, and hypertension
DE that leads to end-stage renal failure in the second to fifth decade of
DE life.
SY Familial glomerular nephritis with fibronectin deposits.
SY Fibronectin glomerulopathy.
DR MIM; 601894; phenotype.
DR MedGen; C1866075.
//
ID Glomuvenous malformations.
AC DI-01668
AR GVMs.
DE Characterized by the presence of smooth-muscle-like glomus cells in
DE the media surrounding distended vascular lumens.
DR MIM; 138000; phenotype.
DR MedGen; C1841984.
//
ID Glucocorticoid deficiency 1.
AC DI-01669
AR GCCD1.
DE A form of glucocorticoid deficiency, a rare autosomal recessive
DE disorder characterized by resistance to ACTH action on the adrenal
DE cortex, adrenal insufficiency and an inability of the adrenal cortex
DE to produce cortisol. It usually presents in the neonatal period or in
DE early childhood with episodes of hypoglycemia and other symptoms
DE related to cortisol deficiency, including failure to thrive, recurrent
DE illnesses or infections, convulsions, and shock. In a small number of
DE patients hypoglycemia can be sufficiently severe and persistent that
DE it leads to serious long-term neurological damage or death. The
DE diagnosis is readily confirmed with a low plasma cortisol measurement
DE in the presence of an elevated ACTH level, and normal aldosterone and
DE plasma renin measurements.
SY ACTH resistance.
SY Adrenal unresponsiveness to ACTH.
SY Familial glucocorticoid deficiency 1.
SY FGD1.
SY Hereditary unresponsiveness to adrenocorticotropic hormone.
SY Isolated glucocorticoid deficiency.
DR MIM; 202200; phenotype.
DR MedGen; C1859974.
DR MeSH; D000309.
//
ID Glucocorticoid deficiency 2.
AC DI-01670
AR GCCD2.
DE A form of glucocorticoid deficiency, a rare autosomal recessive
DE disorder characterized by resistance to ACTH action on the adrenal
DE cortex, adrenal insufficiency and an inability of the adrenal cortex
DE to produce cortisol. It usually presents in the neonatal period or in
DE early childhood with episodes of hypoglycemia and other symptoms
DE related to cortisol deficiency, including failure to thrive, recurrent
DE illnesses or infections, convulsions, and shock. In a small number of
DE patients hypoglycemia can be sufficiently severe and persistent that
DE it leads to serious long-term neurological damage or death. The
DE diagnosis is readily confirmed with a low plasma cortisol measurement
DE in the presence of an elevated ACTH level, and normal aldosterone and
DE plasma renin measurements.
SY Familial glucocorticoid deficiency 2.
SY FGD2.
DR MIM; 607398; phenotype.
DR MedGen; C1846284.
DR MeSH; D000309.
//
ID Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency.
AC DI-03501
AR GCCD4.
DE A form of glucocorticoid deficiency, a rare autosomal recessive
DE disorder characterized by resistance to ACTH action on the adrenal
DE cortex, adrenal insufficiency and an inability of the adrenal cortex
DE to produce cortisol. It usually presents in the neonatal period or in
DE early childhood with episodes of hypoglycemia and other symptoms
DE related to cortisol deficiency, including failure to thrive, recurrent
DE illnesses or infections, convulsions, and shock. In a small number of
DE patients hypoglycemia can be sufficiently severe and persistent that
DE it leads to serious long-term neurological damage or death. The
DE diagnosis is readily confirmed with a low plasma cortisol measurement
DE in the presence of an elevated ACTH level, and normal aldosterone and
DE plasma renin measurements.
SY Familial glucocorticoid deficiency 4.
SY FGD4.
DR MIM; 614736; phenotype.
DR MedGen; C3553587.
DR MedGen; CN130473.
DR MeSH; D000309.
//
ID Glucocorticoid deficiency 5.
AC DI-05165
AR GCCD5.
DE A form of glucocorticoid deficiency, a rare autosomal recessive
DE disorder characterized by resistance to ACTH action on the adrenal
DE cortex, adrenal insufficiency and an inability of the adrenal cortex
DE to produce cortisol. It usually presents in the neonatal period or in
DE early childhood with episodes of hypoglycemia and other symptoms
DE related to cortisol deficiency, including failure to thrive, recurrent
DE illnesses or infections, convulsions, and shock. In a small number of
DE patients hypoglycemia can be sufficiently severe and persistent that
DE it leads to serious long-term neurological damage or death. The
DE diagnosis is readily confirmed with a low plasma cortisol measurement
DE in the presence of an elevated ACTH level, and normal aldosterone and
DE plasma renin measurements.
DR MIM; 617825; phenotype.
DR MedGen; CN708879.
DR MeSH; D000309.
//
ID Glucocorticoid resistance.
AC DI-01671
AR GCRES.
DE Hypertensive, hyperandrogenic disorder characterized by increased
DE serum cortisol concentrations. Inheritance is autosomal dominant.
SY Cortisol resistance.
DR MIM; 138040; gene+phenotype.
DR MedGen; C1841973.
DR MedGen; C1841982.
//
ID Glucocorticoid resistance, generalized.
AC DI-04226
AR GCCR.
DE An autosomal dominant disease characterized by increased plasma
DE cortisol concentration and high urinary free cortisol, resistance to
DE adrenal suppression by dexamethasone, and the absence of Cushing
DE syndrome typical signs. Clinical features include hypoglycemia,
DE hypertension, metabolic alkalosis, chronic fatigue and profound
DE anxiety.
SY Chrousos syndrome.
SY Cortisol resistance from glucocorticoid receptor defect.
SY GCCR deficiency.
SY GCR deficiency.
SY Glucocorticoid receptor deficiency.
SY GRL deficiency.
DR MIM; 615962; phenotype.
DR MedGen; CN205763.
DR MeSH; D008661.
//
ID GLUT1 deficiency syndrome 1.
AC DI-01209
AR GLUT1DS1.
DE A neurologic disorder showing wide phenotypic variability. The most
DE severe 'classic' phenotype comprises infantile-onset epileptic
DE encephalopathy associated with delayed development, acquired
DE microcephaly, motor incoordination, and spasticity. Onset of seizures,
DE usually characterized by apneic episodes, staring spells, and episodic
DE eye movements, occurs within the first 4 months of life. Other
DE paroxysmal findings include intermittent ataxia, confusion, lethargy,
DE sleep disturbance, and headache. Varying degrees of cognitive
DE impairment can occur, ranging from learning disabilities to severe
DE intellectual disability.
SY Blood-brain barrier glucose transport defect.
SY Encephalopathy due to GLUT1 deficiency.
SY GLUT1 deficiency.
SY GLUT-1 deficiency syndrome.
SY GLUT1 deficiency syndrome autosomal recessive.
DR MIM; 606777; phenotype.
DR MedGen; C1847501.
DR MedGen; C3149117.
DR MeSH; D001927.
KW KW-0887:Epilepsy.
//
ID GLUT1 deficiency syndrome 2.
AC DI-00421
AR GLUT1DS2.
DE A clinically variable disorder characterized primarily by onset in
DE childhood of paroxysmal exercise-induced dyskinesia. The dyskinesia
DE involves transient abnormal involuntary movements, such as dystonia
DE and choreoathetosis, induced by exercise or exertion, and affecting
DE the exercised limbs. Some patients may also have epilepsy, most
DE commonly childhood absence epilepsy. Mild intellectual disability may
DE also occur. In some patients involuntary exertion-induced dystonic,
DE choreoathetotic, and ballistic movements may be associated with
DE macrocytic hemolytic anemia.
SY Dystonia 18.
SY Dystonia-18.
SY DYT18.
SY Paroxysmal exercise-induced dystonia.
SY Paroxysmal exercise-induced dystonia with or without epilepsy and/or hemolytic anemia.
SY Paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia.
SY PED with or without epilepsy and/or hemolytic anemia.
DR MIM; 612126; phenotype.
DR MedGen; C1842534.
DR MeSH; D002819.
DR MeSH; D004421.
KW KW-1023:Dystonia.
//
ID Glutamate formiminotransferase deficiency.
AC DI-01672
AR FIGLU-URIA.
DE Autosomal recessive disorder. Features of a severe phenotype, include
DE elevated levels of formiminoglutamate (FIGLU) in the urine in response
DE to histidine administration, megaloblastic anemia, and intellectual
DE disability. Features of a mild phenotype include high urinary
DE excretion of FIGLU in the absence of histidine administration, mild
DE developmental delay, and no hematological abnormalities.
SY Formiminoglutamicaciduria.
SY Formiminoglutamic aciduria.
SY Formiminotransferase deficiency.
DR MIM; 229100; phenotype.
DR MedGen; C0268609.
//
ID Glutaric aciduria 1.
AC DI-00512
AR GA1.
DE An autosomal recessive metabolic disorder characterized by progressive
DE dystonia and athetosis due to gliosis and neuronal loss in the basal
DE ganglia.
SY GA-I.
SY Glutaric acidemia type I.
SY Glutaryl-CoA dehydrogenase deficiency.
DR MIM; 231670; phenotype.
DR MedGen; C0268595.
DR MeSH; D000592.
DR MeSH; D001928.
KW KW-0316:Glutaricaciduria.
//
ID Glutaric aciduria 2A.
AC DI-00513
AR GA2A.
DE An autosomal recessively inherited disorder of fatty acid, amino acid,
DE and choline metabolism. It is characterized by multiple acyl-CoA
DE dehydrogenase deficiencies resulting in large excretion not only of
DE glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric,
DE 2-methyl-butyric, and isovaleric acids.
SY EMA.
SY ETFA deficiency.
SY Ethylmalonic-adipicaciduria.
SY GAIIA.
SY Glutaricaciduria IIA.
SY MADD.
SY Multiple acyl-CoA dehydrogenase deficiency.
DR MIM; 231680; phenotype.
DR MedGen; C1856401.
DR MedGen; C3278154.
DR MeSH; D054069.
KW KW-0316:Glutaricaciduria.
//
ID Glutaric aciduria 2B.
AC DI-00514
AR GA2B.
DE An autosomal recessively inherited disorder of fatty acid, amino acid,
DE and choline metabolism. It is characterized by multiple acyl-CoA
DE dehydrogenase deficiencies resulting in large excretion not only of
DE glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric,
DE 2-methyl-butyric, and isovaleric acids.
SY EMA.
SY ETFB deficiency.
SY Ethylmalonic-adipicaciduria.
SY GAIIB.
SY Glutaricaciduria IIB.
SY MADD.
SY Multiple acyl-CoA dehydrogenase deficiency.
DR MIM; 231680; phenotype.
DR MedGen; C1856403.
DR MedGen; C3278155.
DR MeSH; D054069.
KW KW-0316:Glutaricaciduria.
//
ID Glutaric aciduria 2C.
AC DI-00515
AR GA2C.
DE An autosomal recessively inherited disorder of fatty acid, amino acid,
DE and choline metabolism. It is characterized by multiple acyl-CoA
DE dehydrogenase deficiencies resulting in large excretion not only of
DE glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric,
DE 2-methyl-butyric, and isovaleric acids.
SY EMA.
SY ETFDH deficiency.
SY Ethylmalonic-adipicaciduria.
SY GAIIC.
SY Glutaricaciduria IIC.
SY MADD.
SY Multiple acyl-CoA dehydrogenase deficiency.
DR MIM; 231680; phenotype.
DR MedGen; C1856405.
DR MedGen; C3278156.
DR MeSH; D054069.
KW KW-0316:Glutaricaciduria.
//
ID Glutaric aciduria 3.
AC DI-00516
AR GA3.
DE A metabolic disorder due to peroxisomal glutaryl-CoA oxidase
DE deficiency and characterized by the excretion of abnormal quantities
DE of glutaric acid but low 3-hydroxyglutaric acid.
SY GA III.
SY Glutaryl-CoA oxidase deficiency.
DR MIM; 231690; phenotype.
DR MedGen; C0342873.
DR MeSH; D000592.
KW KW-0316:Glutaricaciduria.
//
ID Glutathione synthetase deficiency.
AC DI-01673
AR GSS deficiency.
DE Severe form characterized by an increased rate of hemolysis and
DE defective function of the central nervous system.
SY 5-oxoprolinuria.
SY Pyroglutamic aciduria.
DR MIM; 266130; phenotype.
DR MedGen; C0398746.
//
ID Glutathione synthetase deficiency of erythrocytes.
AC DI-01674
AR GLUSYNDE.
DE Mild form causing hemolytic anemia.
DR MIM; 231900; phenotype.
DR MedGen; C1856399.
//
ID Glutathionuria.
AC DI-01675
AR GLUTH.
DE A very rare, autosomal recessive metabolic disorder characterized by
DE the presence of glutathione in the urine, due to generalized gamma-
DE glutamyl transpeptidase deficiency. Most patients manifest mild to
DE moderate intellectual disability, and behavioral disturbance.
DE Seizures, tremor, marfanoid features and strabismus are observed in
DE some patients.
SY Gamma-glutamyltransferase deficiency.
SY Gamma-glutamyltranspeptidase deficiency.
SY GGT deficiency.
SY GTG deficiency.
DR MIM; 231950; phenotype.
DR MedGen; C0268524.
DR MeSH; D000592.
KW KW-0991:Intellectual disability.
//
ID Glycerol kinase deficiency.
AC DI-01663
AR GKD.
DE A metabolic disorder manifesting as 3 clinically distinct forms:
DE infantile, juvenile, and adult. The infantile form is the most severe
DE and is associated with severe developmental delay and adrenal
DE insufficiency. Patients with the adult form have no symptoms and are
DE often detected fortuitously. GKD results in hyperglycerolemia, a
DE condition characterized by the accumulation of glycerol in the blood
DE and urine.
SY GK1 deficiency.
SY GK deficiency.
SY Hyperglycerolemia.
DR MIM; 307030; phenotype.
DR MedGen; C0268418.
DR MeSH; D002239.
//
ID Glycine encephalopathy with normal serum glycine.
AC DI-04929
AR GCENSG.
DE An autosomal recessive, severe metabolic disorder characterized by
DE arthrogryposis multiplex congenita, joint hyperlaxity, lack of
DE neonatal respiratory effort, axial hypotonia, hypertonia with
DE pronounced clonus, and delayed psychomotor development. Some patients
DE may have dysmorphic facial features and/or brain imaging
DE abnormalities. Laboratory studies show increased CSF glycine and
DE normal or only mildly increased serum glycine. Most patients die in
DE infancy.
DR MIM; 617301; phenotype.
DR MedGen; CN239956.
DR MeSH; D020739.
//
ID Glycine N-methyltransferase deficiency.
AC DI-01680
AR GNMT deficiency.
DE The only clinical abnormalities in patients with this deficiency are
DE mild hepatomegaly and chronic elevation of serum transaminases.
SY Hypermethioninemia.
DR MIM; 606664; phenotype.
DR MedGen; C1847720.
//
ID Glycogen storage disease 0.
AC DI-00517
AR GSD0.
DE A metabolic disorder characterized by fasting hypoglycemia presenting
DE in infancy or early childhood, high blood ketones and low alanine and
DE lactate concentrations. Although feeding relieves symptoms, it often
DE results in postprandial hyperglycemia and hyperlactatemia.
SY Hypoglycemia with deficiency of glycogen synthetase in the liver.
SY Liver glycogen synthase deficiency.
DR MIM; 240600; phenotype.
DR MedGen; C1855861.
DR MeSH; D006008.
KW KW-0322:Glycogen storage disease.
//
ID Glycogen storage disease 10.
AC DI-02572
AR GSD10.
DE A metabolic disorder characterized by myoglobinuria, increased serum
DE creatine kinase levels, decreased phosphoglycerate mutase activity,
DE myalgia, muscle pain, muscle cramps, exercise intolerance.
SY Glycogen storage disease X.
SY GSD X.
SY Muscle phosphoglycerate mutase deficiency.
SY Myopathy due to phosphoglycerate mutase deficiency.
SY PGAMM deficiency.
DR MIM; 261670; phenotype.
DR MedGen; C0268149.
DR MeSH; D006008.
KW KW-0322:Glycogen storage disease.
//
ID Glycogen storage disease 11.
AC DI-02478
AR GSD11.
DE A metabolic disorder that results in exertional myoglobinuria, pain,
DE cramps and easy fatigue.
SY Glycogen storage disease XI.
SY GSD XI.
SY Lactate dehydrogenase A deficiency.
DR MIM; 612933; phenotype.
DR MedGen; C2752022.
DR MeSH; D006008.
KW KW-0322:Glycogen storage disease.
//
ID Glycogen storage disease 12.
AC DI-01176
AR GSD12.
DE A metabolic disorder associated with increased hepatic glycogen and
DE hemolytic anemia. It may lead to myopathy with exercise intolerance
DE and rhabdomyolysis.
SY ALDOA deficiency.
SY Aldolase A deficiency.
SY Glycogen storage disease XII.
SY GSD XII.
SY Red cell aldolase deficiency.
DR MIM; 611881; phenotype.
DR MedGen; C0272066.
DR MeSH; D006008.
KW KW-0322:Glycogen storage disease.
KW KW-0360:Hereditary hemolytic anemia.
//
ID Glycogen storage disease 13.
AC DI-02013
AR GSD13.
DE A metabolic disorder that results in exercise-induced myalgias,
DE generalized muscle weakness and fatigability. It is characterized by
DE increased serum creatine kinase and decreased enolase 3 activity.
DE Dramatically reduced protein levels with focal sarcoplasmic
DE accumulation of glycogen-beta particles are detected on
DE ultrastructural analysis.
SY Enolase 3 deficiency.
SY Enolase-beta deficiency.
SY Glycogenosis type XIII.
SY Glycogen storage disease XIII.
SY GSD XIII.
SY Muscle-specific enolase-beta deficiency.
DR MIM; 612932; phenotype.
DR MedGen; C2752027.
DR MeSH; D006008.
KW KW-0322:Glycogen storage disease.
//
ID Glycogen storage disease 15.
AC DI-02773
AR GSD15.
DE A metabolic disorder resulting in muscle weakness, associated with the
DE glycogen depletion in skeletal muscle, and cardiac arrhythmia,
DE associated with the accumulation of abnormal storage material in the
DE heart. The skeletal muscle shows a marked predominance of slow-twitch,
DE oxidative muscle fibers and mitochondrial proliferation.
SY Glycogenin deficiency.
SY Glycogen storage disease XV.
SY GSD XV.
SY GYG1 deficiency.
DR MIM; 613507; phenotype.
DR MedGen; C3150754.
DR MeSH; D006008.
KW KW-0322:Glycogen storage disease.
//
ID Glycogen storage disease 1A.
AC DI-00518
AR GSD1A.
DE A metabolic disorder characterized by impairment of terminal steps of
DE glycogenolysis and gluconeogenesis. Patients manifest a wide range of
DE clinical symptoms and biochemical abnormalities, including
DE hypoglycemia, severe hepatomegaly due to excessive accumulation of
DE glycogen, kidney enlargement, growth retardation, lactic acidemia,
DE hyperlipidemia, and hyperuricemia.
SY Glucose-6-phosphatase deficiency.
SY Glycogen storage disease Ia.
SY GSD-Ia.
SY Hepatorenal form of glycogen storage disease.
SY Hepatorenal glycogenosis.
SY von Gierke disease.
DR MIM; 232200; phenotype.
DR MedGen; C0017920.
DR MedGen; CN069618.
DR MeSH; D005953.
KW KW-0322:Glycogen storage disease.
//
ID Glycogen storage disease 1B.
AC DI-00519
AR GSD1B.
DE A metabolic disorder characterized by impairment of terminal steps of
DE glycogenolysis and gluconeogenesis. Patients manifest a wide range of
DE clinical symptoms and biochemical abnormalities, including
DE hypoglycemia, severe hepatomegaly due to excessive accumulation of
DE glycogen, kidney enlargement, growth retardation, lactic acidemia,
DE hyperlipidemia, and hyperuricemia. Glycogen storage disease type 1B
DE patients also present a tendency towards infections associated with
DE neutropenia, relapsing aphthous gingivostomatitis, and inflammatory
DE bowel disease.
SY Glucose-6-phosphate transport defect.
SY Glycogen storage disease Ib.
SY GSD Ib.
SY GSD-Ib.
DR MIM; 232220; phenotype.
DR MedGen; C0268146.
DR MeSH; D005953.
KW KW-0322:Glycogen storage disease.
//
ID Glycogen storage disease 1C.
AC DI-00520
AR GSD1C.
DE A metabolic disorder characterized by impairment of terminal steps of
DE glycogenolysis and gluconeogenesis. Patients manifest a wide range of
DE clinical symptoms and biochemical abnormalities, including
DE hypoglycemia, severe hepatomegaly due to excessive accumulation of
DE glycogen, kidney enlargement, growth retardation, lactic acidemia,
DE hyperlipidemia, and hyperuricemia.
SY Glycogen storage disease Ic.
SY GSD-Ic.
DR MIM; 232240; phenotype.
DR MedGen; C0342749.
DR MeSH; D005953.
KW KW-0322:Glycogen storage disease.
//
ID Glycogen storage disease 1D.
AC DI-00521
AR GSD1D.
DE A metabolic disorder characterized by impairment of terminal steps of
DE glycogenolysis and gluconeogenesis. Patients manifest a wide range of
DE clinical symptoms and biochemical abnormalities, including
DE hypoglycemia, severe hepatomegaly due to excessive accumulation of
DE glycogen, kidney enlargement, growth retardation, lactic acidemia,
DE hyperlipidemia, and hyperuricemia.
SY Glycogen storage disease Id.
SY GSD-Id.
DR MIM; 232240; phenotype.
DR MedGen; C0342750.
DR MeSH; D005953.
KW KW-0322:Glycogen storage disease.
//
ID Glycogen storage disease 2.
AC DI-00522
AR GSD2.
DE A metabolic disorder with a broad clinical spectrum. The severe
DE infantile form, or Pompe disease, presents at birth with massive
DE accumulation of glycogen in muscle, heart and liver. Cardiomyopathy
DE and muscular hypotonia are the cardinal features of this form whose
DE life expectancy is less than two years. The juvenile and adult forms
DE present as limb-girdle muscular dystrophy beginning in the lower
DE limbs. Final outcome depends on respiratory muscle failure. Patients
DE with the adult form can be free of clinical symptoms for most of their
DE life but finally develop a slowly progressive myopathy.
SY Acid alpha-glucosidase deficiency.
SY Acid maltase deficiency.
SY Alpha-1,4-glucosidase deficiency.
SY AMD.
SY Cardiomegalia glycogenica.
SY GAA deficiency.
SY Glycogenosis generalized cardiac form.
SY Glycogenosis II.
SY Glycogen storage disease II.
SY GSD II.
SY GSD-II.
SY Pompe disease.
DR MIM; 232300; phenotype.
DR MedGen; C0017921.
DR MedGen; C2931347.
DR MedGen; CN068791.
DR MedGen; CN068792.
DR MeSH; D006009.
KW KW-0322:Glycogen storage disease.
//
ID Glycogen storage disease 3.
AC DI-00523
AR GSD3.
DE A metabolic disorder associated with an accumulation of abnormal
DE glycogen with short outer chains. It is clinically characterized by
DE hepatomegaly, hypoglycemia, short stature, and variable myopathy.
DE Glycogen storage disease type 3 includes different forms: GSD type 3A
DE patients lack glycogen debrancher enzyme activity in both liver and
DE muscle, while GSD type 3B patients are enzyme-deficient in liver only.
DE In rare cases, selective loss of only 1 of the 2 debranching
DE activities, glucosidase or transferase, results in GSD type 3C or type
DE 3D, respectively.
SY AGL deficiency.
SY Amylo-1,6-glucosidase deficiency.
SY Cori disease.
SY Forbes disease.
SY GDE deficiency.
SY Glycogen debranching enzyme deficiency.
SY Glycogen storage disease III.
SY Glycogen storage disease IIIa.
SY Glycogen storage disease IIIb.
SY Glycogen storage disease IIIc.
SY Glycogen storage disease IIId.
SY GSD-III.
SY GSD IIIa.
SY GSD IIIb.
SY GSD IIIc.
SY GSD IIId.
DR MIM; 232400; phenotype.
DR MedGen; C0017922.
DR MedGen; C1968739.
DR MedGen; C1968740.
DR MedGen; C1968741.
DR MedGen; C1968742.
DR MeSH; D006010.
KW KW-0322:Glycogen storage disease.
//
ID Glycogen storage disease 4.
AC DI-00524
AR GSD4.
DE A metabolic disorder characterized by the accumulation of an
DE amylopectin-like polysaccharide. The typical clinical manifestation is
DE liver disease of childhood, progressing to lethal hepatic cirrhosis.
DE Most children with this condition die before two years of age.
DE However, the liver disease is not always progressive. No treatment
DE apart from liver transplantation has been found to prevent progression
DE of the disease. There is also a neuromuscular form of glycogen storage
DE disease type 4 that varies in onset (perinatal, congenital, juvenile,
DE or adult) and severity.
SY Amylopectinosis.
SY Andersen disease.
SY GBE1 deficiency.
SY Glycogen branching enzyme deficiency.
SY Glycogenosis IV.
SY Glycogen storage disease IV.
SY GSD IV.
SY GSD-IV.
DR MIM; 232500; phenotype.
DR MedGen; C0017923.
DR MedGen; C1856301.
DR MedGen; C1856302.
DR MedGen; C1856303.
DR MedGen; C1856304.
DR MedGen; C1856305.
DR MedGen; C1856306.
DR MedGen; CN068577.
DR MedGen; CN068579.
DR MedGen; CN068580.
DR MedGen; CN068581.
DR MedGen; CN068582.
DR MeSH; D006011.
KW KW-0322:Glycogen storage disease.
//
ID Glycogen storage disease 5.
AC DI-00525
AR GSD5.
DE A metabolic disorder resulting in myopathy characterized by exercise
DE intolerance, cramps, muscle weakness and recurrent myoglobinuria.
SY Glycogen storage disease V.
SY GSD V.
SY GSD-V.
SY McArdle disease.
SY Myophosphorylase deficiency.
DR MIM; 232600; phenotype.
DR MedGen; C0017924.
DR MeSH; D006012.
KW KW-0322:Glycogen storage disease.
//
ID Glycogen storage disease 6.
AC DI-00526
AR GSD6.
DE A metabolic disorder characterized by mild to moderate hypoglycemia,
DE mild ketosis, growth retardation, and prominent hepatomegaly. Heart
DE and skeletal muscle are not affected.
SY Glycogen storage disease VI.
SY Glycogen storage disease VIb.
SY GSD-VI.
SY Hers disease.
SY Liver phosphorylase deficiency.
DR MIM; 232700; phenotype.
DR MedGen; C0017925.
DR MeSH; D006013.
KW KW-0322:Glycogen storage disease.
//
ID Glycogen storage disease 7.
AC DI-00527
AR GSD7.
DE A metabolic disorder characterized by exercise intolerance with
DE associated nausea and vomiting, muscle cramping, exertional myopathy
DE and compensated hemolysis. Short bursts of intense activity are
DE particularly difficult. Severe muscle cramps and myoglobinuria develop
DE after vigorous exercise.
SY Glycogen storage disease VII.
SY GSD VII.
SY GSD-VII.
SY Muscle phosphofructokinase deficiency.
SY PFKM deficiency.
SY Tarui disease.
DR MIM; 232800; phenotype.
DR MedGen; C0017926.
DR MeSH; D006014.
KW KW-0322:Glycogen storage disease.
//
ID Glycogen storage disease 9A.
AC DI-00528
AR GSD9A.
DE A metabolic disorder resulting in a mild liver glycogenosis with
DE clinical symptoms that include hepatomegaly, growth retardation,
DE muscle weakness, elevation of glutamate-pyruvate transaminase and
DE glutamate-oxaloacetate transaminase, hypercholesterolemia,
DE hypertriglyceridemia, and fasting hyperketosis. Two subtypes are
DE known: type 1 or classic type with no phosphorylase kinase activity in
DE liver or erythrocytes, and type 2 or variant type with no
DE phosphorylase kinase activity in liver, but normal activity in
DE erythrocytes. Unlike other glycogenosis diseases, glycogen storage
DE disease type 9A is generally a benign condition. Patients improve with
DE age and are often asymptomatic as adults. Accurate diagnosis is
DE therefore also of prognostic interest.
SY Glycogen storage disease IXa.
SY Glycogen storage disease IXa1.
SY Glycogen storage disease IXa2.
SY Glycogen storage disease VIa.
SY Glycogen storage disease VIII.
SY GSD9A1.
SY GSD9A2.
SY GSD-IXa.
SY GSD-VIa.
SY GSD-VIII.
SY Hepatic phosphorylase kinase deficiency.
SY XLG.
SY X-linked liver glycogenosis.
SY X-linked liver glycogenosis type I.
SY X-linked liver glycogenosis type II.
DR MIM; 306000; phenotype.
DR MedGen; C0017927.
DR MedGen; C1844412.
DR MedGen; C2748941.
DR MeSH; D006008.
KW KW-0322:Glycogen storage disease.
//
ID Glycogen storage disease 9B.
AC DI-00529
AR GSD9B.
DE A metabolic disorder characterized by hepatomegaly, only slightly
DE elevated transaminases and plasma lipids, clinical improvement with
DE increasing age, and remarkably no clinical muscle involvement.
DE Biochemical observations suggest that this mild phenotype is caused by
DE an incomplete holoenzyme that lacks the beta subunit, but that may
DE possess residual activity.
SY Glycogen storage disease IXb.
SY GSD-IXb.
SY Phosphorylase kinase deficiency of liver and muscle.
DR MIM; 261750; phenotype.
DR MedGen; C0543514.
DR MedGen; C1849812.
DR MeSH; D006008.
KW KW-0322:Glycogen storage disease.
//
ID Glycogen storage disease 9C.
AC DI-00530
AR GSD9C.
DE A metabolic disorder manifesting in infancy with hepatomegaly, growth
DE retardation, hypotonia, liver dysfunction, and elevated plasma
DE aminotransferases and lipids. These symptoms improve with age in most
DE cases; however, some patients may develop hepatic fibrosis or
DE cirrhosis.
SY ALG.
SY Autosomal liver glycogenosis.
SY Glycogen storage disease IXc.
SY GSD-IXc.
DR MIM; 613027; phenotype.
DR MedGen; C2751643.
DR MeSH; D006008.
KW KW-0322:Glycogen storage disease.
//
ID Glycogen storage disease 9D.
AC DI-00531
AR GSD9D.
DE A metabolic disorder characterized by slowly progressive,
DE predominantly distal muscle weakness and atrophy. Clinical features
DE include exercise intolerance with early fatigability, pain, cramps and
DE occasionally myoglobinuria.
SY Glycogen storage disease IXd.
SY GSD IXd.
SY Muscle phosphorylase kinase deficiency.
SY X-linked muscle glycogenosis.
DR MIM; 300559; phenotype.
DR MedGen; C1845151.
DR MeSH; D006008.
KW KW-0322:Glycogen storage disease.
//
ID Glycogen storage disease of heart lethal congenital.
AC DI-01676
AR GSDH.
DE Rare disease which leads to death within a few weeks to a few months
DE after birth, through heart failure and respiratory compromise.
SY Congenital nonlysosomal cardiac glycogenosis.
SY Phosphorylase kinase deficiency of heart.
DR MIM; 261740; phenotype.
DR MedGen; C1849813.
//
ID Glycosylphosphatidylinositol biosynthesis defect 1.
AC DI-01677
AR GPIBD1.
DE An autosomal recessive disorder characterized by portal vein
DE thrombosis and portal hypertension, absence seizures, macrocephaly,
DE splenomegaly, cytopenias and early-onset cerebral infarctions.
SY Glycosylphosphatidylinositol deficiency.
SY GPID.
DR MIM; 610293; phenotype.
DR MedGen; C1853205.
DR MeSH; D012640.
//
ID Glycosylphosphatidylinositol biosynthesis defect 11.
AC DI-04229
AR GPIBD11.
DE An autosomal recessive neurologic disorder characterized by
DE developmental delay, intellectual disability, tonic seizures
DE associated with hypsarrhythmia, dysmorphic facial features, and
DE elevated serum alkaline phosphatase.
SY HPMRS5.
DR MIM; 616025; phenotype.
DR MedGen; C4014958.
DR MeSH; D008607.
DR MeSH; D010760.
KW KW-0991:Intellectual disability.
//
ID Glycosylphosphatidylinositol biosynthesis defect 15.
AC DI-05160
AR GPIBD15.
DE An autosomal recessive disorder characterized by delayed psychomotor
DE development, variable intellectual disability, hypotonia, early-onset
DE seizures in most patients, and cerebellar atrophy, resulting in
DE cerebellar signs including gait ataxia and dysarthria.
SY Developmental delay, epilepsy, cerebellar atrophy, and osteopenia.
DR MIM; 617810; phenotype.
DR MedGen; CN698605.
DR MeSH; D001847.
DR MeSH; D001927.
DR MeSH; D065886.
//
ID Glycosylphosphatidylinositol biosynthesis defect 16.
AC DI-05164
AR GPIBD16.
DE An autosomal recessive disorder characterized by delayed psychomotor
DE development, intellectual disability, and seizures.
SY MRT62.
DR MIM; 617816; phenotype.
DR MedGen; CN703738.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Glycosylphosphatidylinositol biosynthesis defect 17.
AC DI-05271
AR GPIBD17.
DE An autosomal recessive disorder characterized by variable neurologic
DE deficits that become apparent in infancy or early childhood. Clinical
DE features include learning disabilities, mild-to-moderate developmental
DE delay, seizures of variable severity, aggressive or over-friendly
DE behavior, and autistic features.
DR MIM; 618010; phenotype.
DR MedGen; CN248527.
DR MeSH; D008607.
KW KW-0887:Epilepsy.
KW KW-1268:Autism spectrum disorder.
//
ID Glycosylphosphatidylinositol biosynthesis defect 18.
AC DI-05347
AR GPIBD18.
DE An autosomal recessive disorder with onset in utero or early infancy
DE and characterized by severe global developmental delay, seizures,
DE hypotonia, weakness, ataxia, and dysmorphic facial features.
DR MIM; 618143; phenotype.
DR MedGen; CN257729.
DR MeSH; D008607.
KW KW-0887:Epilepsy.
//
ID GM1-gangliosidosis 1.
AC DI-00532
AR GM1G1.
DE An autosomal recessive lysosomal storage disease marked by the
DE accumulation of GM1 gangliosides, glycoproteins and keratan sulfate
DE primarily in neurons of the central nervous system. GM1-gangliosidosis
DE type 1 is characterized by onset within the first three months of
DE life, central nervous system degeneration, coarse facial features,
DE hepatosplenomegaly, skeletal dysmorphology reminiscent of Hurler
DE syndrome, and rapidly progressive psychomotor deterioration. Urinary
DE oligosaccharide levels are high. It leads to death usually between the
DE first and second year of life.
SY Beta-galactosidase-1 deficiency.
SY Gangliosidosis generalized GM1 infantile type.
SY Gangliosidosis generalized GM1 type 1.
SY GLB1 deficiency.
SY GM1-gangliosidosis infantile.
DR MIM; 230500; phenotype.
DR MedGen; C0085131.
DR MedGen; C0268271.
DR MedGen; C1968747.
DR MedGen; C1968748.
DR MeSH; D016537.
KW KW-0331:Gangliosidosis.
//
ID GM1-gangliosidosis 2.
AC DI-00533
AR GM1G2.
DE A gangliosidosis characterized by onset between ages 1 and 5. The main
DE symptom is locomotor ataxia, ultimately leading to a state of
DE decerebration with epileptic seizures. Patients do not display the
DE skeletal changes associated with the infantile form, but they
DE nonetheless excrete elevated amounts of beta-linked galactose-terminal
DE oligosaccharides. Inheritance is autosomal recessive.
SY Gangliosidosis generalized GM1 late infantile type.
SY Gangliosidosis generalized GM1 type 2.
SY GM1-gangliosidosis generalized juvenile type.
DR MIM; 230600; phenotype.
DR MedGen; C0268272.
DR MedGen; C1968746.
DR MeSH; D016537.
KW KW-0331:Gangliosidosis.
//
ID GM1-gangliosidosis 3.
AC DI-00534
AR GM1G3.
DE A gangliosidosis with a variable phenotype. Patients show mild
DE skeletal abnormalities, dysarthria, gait disturbance, dystonia and
DE visual impairment. Visceromegaly is absent. Intellectual deficit can
DE initially be mild or absent but progresses over time. Inheritance is
DE autosomal recessive.
SY Gangliosidosis generalized GM1 chronic type.
SY Gangliosidosis generalized GM1 type 3.
SY GM1-gangliosidosis generalized adult type.
DR MIM; 230650; phenotype.
DR MedGen; C0268273.
DR MeSH; D016537.
KW KW-0331:Gangliosidosis.
//
ID GM2-gangliosidosis 1.
AC DI-00536
AR GM2G1.
DE An autosomal recessive lysosomal storage disease marked by the
DE accumulation of GM2 gangliosides in the neuronal cells. It is
DE characterized by GM2 gangliosides accumulation in the absence of HEXA
DE activity, leading to neurodegeneration and, in the infantile form,
DE death in early childhood. It exists in several forms: infantile (most
DE common and most severe), juvenile and adult (late-onset).
SY GM2-gangliosidosis B variant.
SY HEXA deficiency.
SY Hexosaminidase A deficiency.
SY Tay-Sachs disease.
SY Tay-Sachs disease pseudo-AB variant.
SY Tay-Sachs disease variant B1.
SY TSD.
DR MIM; 272800; phenotype.
DR MedGen; C0039373.
DR MedGen; C1848913.
DR MedGen; C1848914.
DR MedGen; C1848915.
DR MedGen; C1848916.
DR MedGen; C1848917.
DR MedGen; C2749283.
DR MedGen; CN068770.
DR MedGen; CN068776.
DR MeSH; D013661.
KW KW-0331:Gangliosidosis.
KW KW-0523:Neurodegeneration.
//
ID GM2-gangliosidosis 2.
AC DI-00537
AR GM2G2.
DE An autosomal recessive lysosomal storage disease marked by the
DE accumulation of GM2 gangliosides in the neuronal cells. Clinically
DE indistinguishable from GM2-gangliosidosis type 1, presenting startle
DE reactions, early blindness, progressive motor and mental
DE deterioration, macrocephaly and cherry-red spots on the macula.
SY Hexosaminidase A and B deficiency.
SY Sandhoff disease.
SY SD.
DR MIM; 268800; phenotype.
DR MedGen; C0036161.
DR MedGen; C1849320.
DR MedGen; C1849321.
DR MedGen; C1849322.
DR MedGen; CN068767.
DR MeSH; D012497.
KW KW-0331:Gangliosidosis.
KW KW-0523:Neurodegeneration.
//
ID GM2-gangliosidosis AB.
AC DI-00535
AR GM2GAB.
DE An autosomal recessive lysosomal storage disease marked by the
DE accumulation of GM2 gangliosides in the neuronal cells. It is
DE characterized by GM2 gangliosides accumulation in the presence of both
DE normal hexosaminidase A and B.
SY GM2 activator deficiency.
SY GM2-gangliosidosis AB variant.
SY Hexosaminidase activator deficiency.
SY Tay-Sachs disease AB variant.
DR MIM; 272750; phenotype.
DR MedGen; C0268275.
DR MeSH; D049290.
KW KW-0331:Gangliosidosis.
//
ID GNAS hyperfunction.
AC DI-01678
AR GNASHYP.
DE This condition is characterized by increased trauma-related bleeding
DE tendency, prolonged bleeding time, brachydactyly and intellectual
DE disability. Both the XLas isoforms and the ALEX protein are mutated
DE which strongly reduces the interaction between them and this may allow
DE unimpeded activation of the XLas isoforms.
DR MIM; 139320; gene+phenotype.
DR MedGen; C1841727.
//
ID Gnathodiaphyseal dysplasia.
AC DI-01679
AR GDD.
DE Rare skeletal syndrome characterized by bone fragility, sclerosis of
DE tubular bones, and cemento-osseous lesions of the jawbone. Patients
DE experience frequent bone fractures caused by trivial accidents in
DE childhood; however the fractures heal normally without bone deformity.
DE The jaw lesions replace the tooth-bearing segments of the maxilla and
DE mandible with fibrous connective tissues, including various amounts of
DE cementum-like calcified mass, sometimes causing facial deformities.
DE Patients also have a propensity for jaw infection and often suffer
DE from purulent osteomyelitis-like symptoms, such as swelling of and pus
DE discharge from the gums, mobility of the teeth, insufficient healing
DE after tooth extraction and exposure of the lesions into the oral
DE cavity.
SY Gnathodiaphyseal sclerosis.
SY Osteogenesis imperfecta with unusual skeletal lesions.
DR MIM; 166260; phenotype.
DR MedGen; C1833736.
DR MeSH; D010013.
KW KW-1065:Osteogenesis imperfecta.
//
ID Goiter multinodular 1, with or without Sertoli-Leydig cell tumors.
AC DI-03075
AR MNG1.
DE A common disorder characterized by nodular overgrowth of the thyroid
DE gland. Some individuals may also develop Sertoli-Leydig cell tumors,
DE usually of the ovary.
SY Euthyroid goiter.
SY Goiter nontoxic with intrathyroidal calcification.
SY Goiter non-toxic with intrathyroidal calcification.
SY Multinodular goiter adolescent.
SY Simple goiter.
DR MIM; 138800; phenotype.
DR MedGen; C0018022.
DR MedGen; C0302859.
DR MedGen; C3165522.
DR MeSH; D006044.
//
ID Goldberg-Shprintzen syndrome.
AC DI-01681
AR GOSHS.
DE A disorder characterized by intellectual disability, microcephaly, and
DE dysmorphic facial features. Most patients also have Hirschsprung
DE disease.
SY Goldberg-Shprintzen megacolon syndrome.
DR MIM; 609460; phenotype.
DR MedGen; C1836123.
DR MeSH; D006627.
DR MeSH; D019465.
KW KW-0367:Hirschsprung disease.
//
ID Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy.
AC DI-05558
AR GDRM.
DE An autosomal recessive disorder characterized by 46,XY complete
DE gonadal dysgenesis and extragonadal anomalies, including typical
DE facial gestalt, low birth weight, myopathy, rod and cone dystrophy,
DE anal atresia, omphalocele, sensorineural hearing loss, dry and scaly
DE skin, skeletal abnormalities, renal agenesis and neuromotor delay.
DR MIM; 618419; phenotype.
DR MedGen; CN258374.
DR MeSH; D009135.
DR MeSH; D058490.
DR MeSH; D058499.
KW KW-0182:Cone-rod dystrophy.
KW KW-0209:Deafness.
//
ID Gordon Holmes syndrome.
AC DI-03788
AR GDHS.
DE A disease characterized by cerebellar symptoms and signs of sex
DE steroid deficiency. Clinical features include cerebellar and brain
DE stem atrophy, cerebellar ataxia, hypothalamic LHRH deficiency,
DE hypogonadotrophic hypogonadism, lack of secondary sexual
DE characteristics, and infertility.
SY CAHH.
SY Cerebellar ataxia and hypogonadotropic hypogonadism.
SY Deficiency of luteinizing hormone-releasing hormone with ataxia.
SY LHRH deficiency and ataxia.
DR MIM; 212840; phenotype.
DR MedGen; C1859305.
DR MeSH; D002524.
DR MeSH; D007006.
KW KW-1016:Hypogonadotropic hypogonadism.
//
ID Gracile bone dysplasia.
AC DI-03712
AR GCLEB.
DE A perinatally lethal condition characterized by narrowing of the
DE medullary cavity of the long bones and of the skull, gracile bones
DE with thin diaphyses, premature closure of basal cranial sutures, and
DE microphthalmia. Most affected individuals who survive beyond the
DE perinatal period develop hypocalcemia with low parathyroid hormone
DE levels.
SY Habrodysplasia.
SY Lethal skeletal dysplasia with gracile bones.
SY Osteocraniosplenic syndrome.
SY Osteocraniostenosis.
DR MIM; 602361; phenotype.
DR MedGen; C1865639.
DR MeSH; D001848.
DR MeSH; D019465.
//
ID GRACILE syndrome.
AC DI-01684
AR GRACILE.
DE GRACILE stands for 'growth retardation, aminoaciduria, cholestasis,
DE iron overload, lactic acidosis, and early death'. It is a recessively
DE inherited lethal disease characterized by fetal growth retardation,
DE lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron
DE metabolism.
DR MIM; 603358; phenotype.
DR MedGen; C1864002.
//
ID Grange syndrome.
AC DI-04954
AR GRNG.
DE An autosomal recessive syndrome of stenosis or occlusion of multiple
DE arteries, including renal, abdominal, cerebral and probably coronary
DE arteries, congenital heart defects, brachydactyly, syndactyly, bone
DE fragility, and learning disabilities.
SY Arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly.
SY Grange occlusive arterial syndrome.
DR MIM; 602531; phenotype.
DR MedGen; C1865267.
DR MeSH; D001157.
//
ID Granulomatous disease, chronic, autosomal recessive, 1.
AC DI-00305
AR CGD1.
DE A form of chronic granulomatous disease, a primary immunodeficiency
DE characterized by severe recurrent bacterial and fungal infections,
DE along with manifestations of chronic granulomatous inflammation. It
DE results from an impaired ability of phagocytes to mount a burst of
DE reactive oxygen species in response to pathogens.
SY Chronic granulomatous disease autosomal recessive cytochrome b-positive type I.
SY Chronic granulomatous disease due to NCF1 deficiency.
SY Deficiency of neutrophil cytosol factor 1.
SY NCF1 deficiency.
SY p47-PHOX deficiency.
SY SOC2 deficiency.
SY Soluble oxidase component II deficiency.
DR MIM; 233700; phenotype.
DR MedGen; C1856251.
DR MeSH; D006105.
KW KW-0161:Chronic granulomatous disease.
//
ID Granulomatous disease, chronic, autosomal recessive, 2.
AC DI-00306
AR CGD2.
DE A form of chronic granulomatous disease, a primary immunodeficiency
DE characterized by severe recurrent bacterial and fungal infections,
DE along with manifestations of chronic granulomatous inflammation. It
DE results from an impaired ability of phagocytes to mount a burst of
DE reactive oxygen species in response to pathogens.
SY Chronic granulomatous disease autosomal recessive cytochrome b-positive type II.
SY Deficiency of neutrophil cytosol factor 2.
SY NCF2 deficiency.
SY p67-PHOX deficiency.
DR MIM; 233710; phenotype.
DR MedGen; C1856245.
DR MeSH; D006105.
KW KW-0161:Chronic granulomatous disease.
//
ID Granulomatous disease, chronic, autosomal recessive, 3.
AC DI-03170
AR CGD3.
DE A form of chronic granulomatous disease, a primary immunodeficiency
DE characterized by severe recurrent bacterial and fungal infections,
DE along with manifestations of chronic granulomatous inflammation. It
DE results from an impaired ability of phagocytes to mount a burst of
DE reactive oxygen species in response to pathogens.
SY CGD autosomal recessive cytochrome b-positive type III.
SY Chronic granulomatous disease autosomal recessive cytochrome b-positive type III.
SY Granulomatous disease chronic due to NCF4 deficiency.
DR MIM; 613960; phenotype.
DR MedGen; C3151409.
DR MeSH; D006105.
KW KW-0161:Chronic granulomatous disease.
//
ID Granulomatous disease, chronic, autosomal recessive, 4.
AC DI-00304
AR CGD4.
DE A form of chronic granulomatous disease, a primary immunodeficiency
DE characterized by severe recurrent bacterial and fungal infections,
DE along with manifestations of chronic granulomatous inflammation. It
DE results from an impaired ability of phagocytes to mount a burst of
DE reactive oxygen species in response to pathogens.
SY CGD due to deficiency of alpha subunit of cytochrome b.
SY Chronic granulomatous disease autosomal recessive cytochrome b-negative.
SY CYBA deficiency.
SY Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive.
DR MIM; 233690; phenotype.
DR MedGen; C1856255.
DR MeSH; D006105.
KW KW-0161:Chronic granulomatous disease.
//
ID Granulomatous disease, chronic, autosomal recessive, 5.
AC DI-05870
AR CGD5.
DE A form of chronic granulomatous disease, a primary immunodeficiency
DE characterized by severe recurrent bacterial and fungal infections,
DE along with manifestations of chronic granulomatous inflammation. It
DE results from an impaired ability of phagocytes to mount a burst of
DE reactive oxygen species in response to pathogens. CGD5 is an autosomal
DE recessive form characterized by onset of recurrent infections and
DE severe colitis in the first decade of life. Clinical manifestations
DE include increased susceptibility to catalase-positive organisms,
DE features of inflammatory bowel disease, lymphopenia, lymphadenitis,
DE and autoinflammatory symptoms in some patients.
SY Granulomatous disease, chronic, due to CYBC1 deficiency.
DR MIM; 618935; phenotype.
DR MedGen; CN283260.
DR MeSH; D006105.
KW KW-0161:Chronic granulomatous disease.
//
ID Granulomatous disease, chronic, X-linked.
AC DI-00307
AR CGDX.
DE A form of chronic granulomatous disease, a primary immunodeficiency
DE characterized by severe recurrent bacterial and fungal infections,
DE along with manifestations of chronic granulomatous inflammation. It
DE results from an impaired ability of phagocytes to mount a burst of
DE reactive oxygen species in response to pathogens.
SY Chronic granulomatous disease cytochrome b-negative X-linked.
SY Chronic granulomatous disease cytochrome b-positive X-linked.
DR MIM; 306400; phenotype.
DR MedGen; C1844376.
DR MedGen; C1844378.
DR MedGen; C1844379.
DR MeSH; D006105.
KW KW-0161:Chronic granulomatous disease.
//
ID Gray platelet syndrome.
AC DI-03181
AR GPS.
DE A rare platelet disorder characterized by a selective deficiency in
DE the number and contents of platelet alpha-granules. It is associated
DE with mild to moderate bleeding tendency and moderate thrombocytopenia.
DE The platelets are enlarged and have a gray appearance on light
DE microscopy of Wright-stained peripheral blood smears due to decreased
DE granules.
SY BDPLT4.
SY Bleeding disorder platelet-type 4.
SY Grey platelet syndrome.
SY Platelet alpha-granule deficiency.
DR MIM; 139090; phenotype.
DR MedGen; C0272302.
DR MeSH; D055652.
//
ID Greenberg dysplasia.
AC DI-01761
AR GRBGD.
DE A rare autosomal recessive chondrodystrophy characterized by early in
DE utero lethality. Affected fetuses typically present with fetal
DE hydrops, short-limbed dwarfism, and a marked disorganization of
DE chondro-osseous calcification, and ectopic ossification centers.
SY Chondrodystrophy, hydropic and prenatally lethal type.
SY HEM skeletal dysplasia.
SY Hydrops-ectopic calcification-moth-eaten skeletal dysplasia.
SY Moth-eaten skeletal dysplasia.
DR MIM; 215140; phenotype.
DR MedGen; C1300226.
DR MedGen; C2931048.
DR MeSH; D010009.
//
ID Greig cephalo-poly-syndactyly syndrome.
AC DI-01685
AR GCPS.
DE Autosomal dominant disorder affecting limb and craniofacial
DE development. It is characterized by pre- and postaxial polydactyly,
DE syndactyly of fingers and toes, macrocephaly and hypertelorism.
DR MIM; 175700; phenotype.
DR MedGen; C0265306.
//
ID Griscelli syndrome 1.
AC DI-01686
AR GS1.
DE Rare autosomal recessive disorder that results in pigmentary dilution
DE of the skin and hair, the presence of large clumps of pigment in hair
DE shafts, silvery-gray hair and accumulation of melanosomes in
DE melanocytes. GS1 patients show developmental delay, hypotonia and
DE intellectual disability, without apparent immune abnormalities.
SY Griscelli syndrome with primary neurologic impairment.
DR MIM; 214450; phenotype.
DR MedGen; C1859194.
//
ID Griscelli syndrome 2.
AC DI-01687
AR GS2.
DE Rare autosomal recessive disorder that results in pigmentary dilution
DE of the skin and hair, the presence of large clumps of pigment in hair
DE shafts, and an accumulation of melanosomes in melanocytes. GS2
DE patients also develop an uncontrolled T-lymphocyte and macrophage
DE activation syndrome, known as hemophagocytic syndrome, leading to
DE death in the absence of bone marrow transplantation. Neurological
DE impairment is present in some patients, likely as a result of
DE hemophagocytic syndrome.
DR MIM; 607624; phenotype.
DR MedGen; C1868679.
//
ID Griscelli syndrome 3.
AC DI-01688
AR GS3.
DE Rare autosomal recessive disorder characterized by pigmentary dilution
DE of the skin and hair, the presence of large clumps of pigment in hair
DE shafts, and an accumulation of melanosomes in melanocytes, without
DE other clinical manifestations.
DR MIM; 609227; phenotype.
DR MedGen; C1836573.
//
ID Growth hormone deficiency with pituitary anomalies.
AC DI-02581
AR GHDPA.
DE A disease characterized by low or absent growth hormone levels, in the
DE presence of a hypoplastic anterior pituitary lobe and ectopic or
DE absent posterior pituitary lobe.
DR MIM; 182230; phenotype.
DR MedGen; C2750027.
DR MeSH; D007018.
//
ID Growth hormone deficiency, isolated partial.
AC DI-04331
AR GHDP.
DE A disorder characterized by partial growth hormone deficiency
DE resulting in growth delay and short stature, sometimes associated with
DE recurrent episodes of abdominal pain, vomiting, ketosis and
DE hypoglycemia.
DR MIM; 615925; phenotype.
DR MedGen; C1858656.
DR MeSH; D004393.
KW KW-0242:Dwarfism.
//
ID Growth hormone deficiency, isolated, 1A.
AC DI-01841
AR IGHD1A.
DE An autosomal recessive, severe deficiency of growth hormone leading to
DE dwarfism. Patients often develop antibodies to administered growth
DE hormone.
SY Growth hormone deficiency isolated autosomal recessive.
SY IGHD IA.
SY Illig-type growth hormone deficiency.
SY Isolated growth hormone deficiency type IA.
SY Pituitary dwarfism I.
SY Primordial dwarfism.
SY Sexual ateleiotic dwarfism.
DR MIM; 262400; phenotype.
DR MedGen; C0342573.
DR MeSH; D004393.
KW KW-0242:Dwarfism.
//
ID Growth hormone deficiency, isolated, 1B.
AC DI-03019
AR IGHD1B.
DE An autosomal recessive deficiency of growth hormone leading to short
DE stature. Patients have low but detectable levels of growth hormone,
DE significantly retarded bone age, and a positive response and
DE immunologic tolerance to growth hormone therapy.
SY IGHD IB.
SY Isolated growth hormone deficiency type IB.
SY Pituitary dwarfism I.
DR MIM; 612781; phenotype.
DR MedGen; C2748571.
DR MeSH; D004393.
KW KW-0242:Dwarfism.
//
ID Growth hormone deficiency, isolated, 2.
AC DI-01842
AR IGHD2.
DE An autosomal dominant deficiency of growth hormone leading to short
DE stature. Clinical severity is variable. Patients have a positive
DE response and immunologic tolerance to growth hormone therapy.
SY Growth hormone deficiency isolated autosomal dominant.
SY IGHD II.
SY Isolated growth hormone deficiency type II.
SY Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant.
DR MIM; 173100; phenotype.
DR MedGen; C0271567.
DR MeSH; D004393.
KW KW-0242:Dwarfism.
//
ID Growth hormone deficiency, isolated, 3, with agammaglobulinemia.
AC DI-02446
AR IGHD3.
DE An X-linked recessive disorder characterized by growth hormone
DE deficiency, short stature, delayed bone age, agammaglobulinemia with
DE markedly reduced numbers of B cells, and good response to treatment
DE with growth hormone.
SY Agammaglobulinemia and isolated growth hormone deficiency.
SY Fleisher syndrome.
SY Isolated growth hormone deficiency, type III, with agammaglobulinemia.
SY Isolated growth hormone deficiency type 3.
SY X-linked hypogammaglobulinemia and isolated growth hormone deficiency.
DR MIM; 307200; phenotype.
DR MedGen; C0472813.
DR MeSH; D000361.
DR MeSH; D004393.
KW KW-0242:Dwarfism.
//
ID Growth hormone deficiency, isolated, 4.
AC DI-05358
AR IGHD4.
DE An autosomal recessive deficiency of growth hormone leading to early
DE and severe growth failure and short stature. Patients have low but
DE detectable levels of growth hormone, significantly retarded bone age,
DE and a positive response and immunologic tolerance to growth hormone
DE therapy.
SY Dwarfism of Sindh.
SY Growth hormone deficiency, isolated, type IV.
SY Isolated growth hormone deficiency, type IV.
DR MIM; 618157; phenotype.
DR MedGen; CN257748.
DR MeSH; D004393.
KW KW-0242:Dwarfism.
//
ID Growth hormone deficiency, isolated, 5.
AC DI-05359
AR IGHD5.
DE An autosomal recessive deficiency of growth hormone characterized by
DE severe postnatal growth failure, delayed bone age without bone
DE dysplasia, and hypoplasia of the anterior pituitary.
SY Growth hormone deficiency, isolated, type V.
SY Isolated growth hormone deficiency, type V.
DR MIM; 618160; phenotype.
DR MedGen; CN257749.
DR MeSH; D004393.
KW KW-0242:Dwarfism.
//
ID Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive.
AC DI-01878
AR GHISID1.
DE An autosomal recessive form of growth hormone insensitivity syndrome,
DE a congenital disease characterized by short stature, growth hormone
DE deficiency in the presence of normal to elevated circulating
DE concentrations of growth hormone, resistance to exogeneous growth
DE hormone therapy, and recurrent infections. Most, but not all, patients
DE have features of immune dysregulation.
SY Growth hormone insensitivity due to postreceptor defect.
SY Laron syndrome due to a post-receptor defect.
SY Laron syndrome type II.
SY Laron type dwarfism II.
DR MIM; 245590; phenotype.
DR MedGen; C1855548.
DR MeSH; D046150.
KW KW-0242:Dwarfism.
//
ID Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant.
AC DI-05897
AR GHISID2.
DE An autosomal dominant form of growth hormone insensitivity syndrome, a
DE congenital disease characterized by short stature, growth hormone
DE deficiency in the presence of normal to elevated circulating
DE concentrations of growth hormone, resistance to exogeneous growth
DE hormone therapy, and recurrent infections. GHISID2 patients usually
DE have delayed bone age, delayed puberty, and decreased serum IGF1. Some
DE patients may have features of mild immune dysregulation, such as
DE eczema, increased serum IgE, asthma, or celiac disease.
DR MIM; 618985; phenotype.
DR MedGen; CN283329.
DR MeSH; D046150.
KW KW-0242:Dwarfism.
//
ID Growth hormone insensitivity, partial.
AC DI-02300
AR GHIP.
DE A disease characterized by partial resistance to growth hormone
DE resulting in short stature. Short stature is defined by a standing
DE height more than 2 standard deviations below the mean (or below the
DE 2.5 percentile) for sex and chronological age, compared with a well-
DE nourished, healthy, genetically relevant population.
SY Isolated partial growth hormone deficiency.
SY Partial IGHD.
DR MIM; 604271; phenotype.
DR MedGen; C1858656.
DR MeSH; D004393.
KW KW-0242:Dwarfism.
//
ID Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies.
AC DI-06106
AR GKAF.
DE An autosomal recessive disorder characterized by pre- and postnatal
DE growth restriction with microcephaly, distinctive craniofacial
DE features, congenital alopecia, hypoplastic kidneys with renal
DE insufficiency, global developmental delay, severe congenital
DE sensorineural hearing loss, hydrocephalus, genital hypoplasia, and
DE early mortality.
DR MIM; 619321; phenotype.
DR MedGen; CN296673.
DR MeSH; D000505.
KW KW-0209:Deafness.
KW KW-0242:Dwarfism.
KW KW-1063:Hypotrichosis.
//
ID Growth retardation, developmental delay, and facial dysmorphism.
AC DI-02561
AR GDFD.
DE A severe polymalformation syndrome characterized by postnatal growth
DE retardation, microcephaly, severe psychomotor delay, functional brain
DE deficits and characteristic facial dysmorphism. In some patients,
DE structural brain malformations, cardiac defects, genital anomalies,
DE and cleft palate are observed. Early death occurs by the age of 3
DE years.
SY Growth retardation developmental delay coarse facies early death.
SY Lethal polymalformative syndrome Boissel type.
DR MIM; 612938; phenotype.
DR MedGen; C2752001.
DR MeSH; D000015.
//
ID Growth retardation, impaired intellectual development, hypotonia, and hepatopathy.
AC DI-04841
AR GRIDHH.
DE An autosomal recessive disorder characterized by severe growth
DE retardation with prenatal onset, intellectual disability, muscular
DE hypotonia, and hepatic dysfunction.
DR MIM; 617093; phenotype.
DR MedGen; CN238100.
DR MeSH; D006130.
DR MeSH; D008107.
DR MeSH; D008607.
DR MeSH; D009123.
KW KW-0991:Intellectual disability.
//
ID Guttmacher syndrome.
AC DI-01691
AR GUTTS.
DE Dominantly inherited combination of distal limb and genital tract
DE abnormalities. It has several features in common with hand-foot-
DE genital syndrome, including hypoplastic first digits and hypospadias.
DE Typical features not seen in hand-foot-genital syndrome include
DE postaxial polydactyly of the hands and uniphalangeal second toes with
DE absent nails.
DR MIM; 176305; phenotype.
DR MedGen; C1867801.
//
ID Hailey-Hailey disease.
AC DI-01693
AR HHD.
DE Autosomal dominant disorder characterized by persistent blisters and
DE suprabasal cell separation (acantholysis) of the epidermis, due to
DE impaired keratinocyte adhesion. Patients lacking all isoforms except
DE isoform 2 have HHD.
SY Benign familial pemphigus.
DR MIM; 169600; phenotype.
DR MedGen; C0085106.
//
ID Haim-Munk syndrome.
AC DI-00539
AR HMS.
DE An autosomal recessive disorder characterized by palmoplantar
DE keratosis, onychogryphosis and periodontitis. Additional features are
DE pes planus, arachnodactyly, and acroosteolysis.
SY Cochin Jewish disorder.
SY Keratosis palmoplantaris with periodontopathia and onychogryposis.
DR MIM; 245010; phenotype.
DR MedGen; C1855627.
DR MeSH; D007645.
KW KW-1007:Palmoplantar keratoderma.
//
ID Hajdu-Cheney syndrome.
AC DI-02985
AR HJCYS.
DE A rare, autosomal dominant skeletal disorder characterized by the
DE association of facial anomalies, acro-osteolysis, general
DE osteoporosis, insufficient ossification of the skull, and periodontal
DE disease (premature loss of permanent teeth). Other features include
DE cleft palate, congenital heart defects, polycystic kidneys, orthopedic
DE problems and anomalies of the genitalia, intestines and eyes.
SY Acroosteolysis with osteoporosis and changes in skull and mandible.
SY Arthrodentoosteodysplasia.
SY Cheney syndrome.
SY HCS.
SY Serpentine Fibula-Polycystic Kidney Syndrome.
SY Serpentine fibula syndrome.
SY SFPKS.
DR MIM; 102500; phenotype.
DR MedGen; C0917715.
DR MedGen; C1838257.
DR MeSH; D031845.
//
ID Hallermann-Streiff syndrome.
AC DI-02798
AR HSS.
DE A disorder characterized by a typical skull shape (brachycephaly with
DE frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked
DE nose, micrognathia, skin atrophy, dental anomalies and proportionate
DE short stature. Intellectual disability is present in a minority of
DE cases.
SY Francois dyscephalic syndrome.
DR MIM; 234100; phenotype.
DR MedGen; C0018522.
DR MeSH; D006210.
//
ID Hamamy syndrome.
AC DI-03480
AR HMMS.
DE A syndrome characterized by severe hypertelorism, upslanting palpebral
DE fissures, brachycephaly, abnormal ears, sloping shoulders, enamel
DE hypoplasia, and osteopenia with repeated fractures. Additional
DE features include myopia, mild to moderate sensorineural hearing loss,
DE gonadal anomalies and borderline intelligence.
DR MIM; 611174; phenotype.
DR MedGen; C1970027.
DR MeSH; D006972.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Hand-foot-genital syndrome.
AC DI-01694
AR HFG.
DE A disorder characterized by limb and genitourinary anomalies. Clinical
DE features include small feet with unusually short great toes and
DE abnormal thumbs. Females with the disorder have duplication of the
DE genital tract.
SY Hand-foot-uterus syndrome.
SY HFG syndrome.
SY HFU.
SY HFU syndrome.
DR MIM; 140000; phenotype.
DR MedGen; C1841679.
DR MeSH; D014564.
DR MeSH; D017880.
//
ID Hao-Fountain syndrome.
AC DI-05866
AR HAFOUS.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE global developmental delay, varying degrees of intellectual
DE disability, autism spectrum disorder, poor or absent speech, and mild
DE facial dysmorphism. Most patients develop seizures. Additional
DE variable features include hypotonia, hypogonadism in males, and ocular
DE anomalies.
SY Intellectual developmental disorder with impaired speech, behavioral abnormalities, and dysmorphic facies.
DR MIM; 616863; phenotype.
DR MedGen; C4225667.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
KW KW-1268:Autism spectrum disorder.
//
ID Harderoporphyria.
AC DI-05848
AR HARPO.
DE An autosomal recessive form of porphyria. Porphyrias are inherited
DE defects in the biosynthesis of heme, resulting in the accumulation and
DE increased excretion of porphyrins or porphyrin precursors. HARPO is a
DE rare erythropoietic variant form characterized by neonatal hemolytic
DE anemia, sometimes accompanied by skin lesions, and massive excretion
DE of harderoporphyrin in feces.
DR MIM; 618892; phenotype.
DR MedGen; C0342859.
DR MeSH; D011164.
KW KW-0360:Hereditary hemolytic anemia.
//
ID Hardikar syndrome.
AC DI-06282
AR HDKR.
DE An X-linked dominant, multiple congenital anomaly syndrome
DE characterized by foregut malformations, intestinal malrotation, liver
DE and biliary tract disease, genitourinary abnormalities, facial
DE clefting, and pigmentary retinopathy. Some patients may have
DE congenital cardiac defects or vascular abnormalities, including aortic
DE coarctation and carotid/intracranial aneurysms. Neurodevelopment and
DE cognition is normal.
SY Cholestasis with pigmentary retinopathy and cleft palate syndrome.
DR MIM; 301068; phenotype.
DR MedGen; C0795969.
DR MeSH; D000015.
//
ID Harel-Yoon syndrome.
AC DI-04881
AR HAYOS.
DE A syndrome characterized by global developmental delay, hypotonia,
DE intellectual disability, and axonal neuropathy. Some patients have
DE optic atrophy and hypertrophic cardiomyopathy. HAYOS inheritance can
DE be autosomal dominant or autosomal recessive.
DR MIM; 617183; phenotype.
DR MedGen; CN239114.
DR MeSH; D065886.
//
ID Hartnup disorder.
AC DI-01695
AR HND.
DE Autosomal recessive abnormality of renal and gastrointestinal neutral
DE amino acid transport noted for its clinical variability. First
DE described in 1956, HND is characterized by increases in the urinary
DE and intestinal excretion of neutral amino acids. Individuals with
DE typical Hartnup aminoaciduria may be asymptomatic, some develop a
DE photosensitive pellagra-like rash, attacks of cerebellar ataxia and
DE other neurological or psychiatric features. Although the definition of
DE HND was originally based on clinical and biochemical abnormalities,
DE its marked clinical heterogeneity has led to it being known as a
DE disorder with a consistent pathognomonic neutral hyperaminoaciduria.
DR MIM; 234500; phenotype.
DR MedGen; C0018609.
//
ID Hartsfield syndrome.
AC DI-03909
AR HRTFDS.
DE A syndrome characterized by the triad of holoprosencephaly,
DE ectrodactyly, and cleft/lip palate. Profound intellectual disability
DE is also present. Multiple other congenital anomalies usually occur.
SY Holoprosencephaly, ectrodactyly and bilateral cleft lip/palate.
DR MIM; 615465; phenotype.
DR MedGen; C1845146.
DR MeSH; D002971.
DR MeSH; D002972.
DR MeSH; D006228.
DR MeSH; D008607.
DR MeSH; D016142.
KW KW-0370:Holoprosencephaly.
KW KW-0991:Intellectual disability.
//
ID Hawkinsinuria.
AC DI-00540
AR HAWK.
DE An inborn error of tyrosine metabolism characterized by failure to
DE thrive, persistent metabolic acidosis, fine and sparse hair, and
DE excretion of the unusual cyclic amino acid metabolite, hawkinsin, in
DE the urine.
SY 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency.
SY 4-HPPD deficiency.
SY 4-hydroxyphenylpyruvic acid dioxygenase deficiency.
DR MIM; 140350; phenotype.
DR MedGen; C2931042.
DR MeSH; D020176.
//
ID HDS10 mitochondrial disease.
AC DI-00001
AR HSD10MD.
DE An X-linked multisystemic disorder with highly variable severity. Age
DE at onset ranges from the neonatal period to early childhood. Features
DE include progressive neurodegeneration, psychomotor retardation, loss
DE of mental and motor skills, seizures, cardiomyopathy, and visual and
DE hearing impairment. Some patients manifest lactic acidosis and
DE metabolic acidosis.
SY 17-beta-hydroxysteroid dehydrogenase X deficiency.
SY 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency.
SY 3-hydroxyacyl-CoA dehydrogenase II deficiency.
SY 3-hydroxyacyl-CoA dehydrogenase type 2 deficiency.
SY 3-hydroxyacyl-CoA dehydrogenase type-2 deficiency.
SY 3-hydroxyacyl-CoA dehydrogenase type II deficiency.
SY CAMR.
SY HSD17B10 deficiency.
SY MHBD deficiency.
SY MRXS10.
DR MIM; 300438; phenotype.
DR MedGen; C1845517.
DR MeSH; D020739.
KW KW-0523:Neurodegeneration.
//
ID Heart and brain malformation syndrome.
AC DI-04734
AR HBMS.
DE An autosomal recessive syndrome characterized by multiple congenital
DE anomalies such as cardiac defects, brain malformations, including
DE cerebellar vermis hypoplasia, hypoplastic corpus callosum and Dandy-
DE Walker malformation, profoundly delayed psychomotor development,
DE microphthalmia, and facial dysmorphism.
DR MIM; 616920; phenotype.
DR MedGen; CN236407.
DR MeSH; D000015.
//
ID Heart-hand syndrome Slovenian type.
AC DI-01697
AR HHS-Slovenian.
DE Heart-hand syndrome (HHS) is a clinically and genetically
DE heterogeneous disorder characterized by the co-occurrence of a
DE congenital cardiac disease and limb malformations.
DR MIM; 610140; phenotype.
DR MedGen; C1857829.
//
ID Heimler syndrome 1.
AC DI-04563
AR HMLR1.
DE A form of Heimler syndrome, a very mild peroxisome biogenesis disorder
DE characterized by sensorineural hearing loss, amelogenesis imperfecta
DE resulting in enamel hyoplasia of the secondary dentition, nail
DE defects, and occasional or late-onset retinal pigmentation
DE abnormalities.
SY Deafness enamel hypoplasia nail defects.
SY Hearing loss, sensorineural, with enamel hypoplasia and nail defects.
SY PBD1C.
SY Peroxisome biogenesis disorder 1C.
SY Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities.
DR MIM; 234580; phenotype.
DR MedGen; C1856186.
DR MeSH; D000567.
DR MeSH; D006319.
DR MeSH; D009260.
KW KW-0209:Deafness.
KW KW-0958:Peroxisome biogenesis disorder.
KW KW-0986:Amelogenesis imperfecta.
//
ID Heimler syndrome 2.
AC DI-04564
AR HMLR2.
DE A form of Heimler syndrome, a very mild peroxisome biogenesis disorder
DE characterized by sensorineural hearing loss, amelogenesis imperfecta
DE resulting in enamel hyoplasia of the secondary dentition, nail
DE defects, and occasional or late-onset retinal pigmentation
DE abnormalities.
SY PBD4C.
SY Peroxisome biogenesis disorder 4C.
DR MIM; 616617; phenotype.
DR MedGen; CN233185.
DR MeSH; D000567.
DR MeSH; D006319.
DR MeSH; D009260.
KW KW-0209:Deafness.
KW KW-0958:Peroxisome biogenesis disorder.
KW KW-0986:Amelogenesis imperfecta.
//
ID Heinz body anemias.
AC DI-01698
AR HEIBAN.
DE Form of non-spherocytic hemolytic anemia of Dacie type 1. After
DE splenectomy, which has little benefit, basophilic inclusions called
DE Heinz bodies are demonstrable in the erythrocytes. Before splenectomy,
DE diffuse or punctate basophilia may be evident. Most of these cases are
DE probably instances of hemoglobinopathy. The hemoglobin demonstrates
DE heat lability. Heinz bodies are observed also with the Ivemark
DE syndrome (asplenia with cardiovascular anomalies) and with glutathione
DE peroxidase deficiency.
DR MIM; 140700; phenotype.
DR MedGen; C0700299.
//
ID HELIX syndrome.
AC DI-05081
AR HELIX.
DE An autosomal recessive disease characterized by congenital heat
DE intolerance, generalized anhidrosis, inability to produce tears, dry
DE mouth, electrolyte imbalance, and ichthyosis.
SY Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia.
DR MIM; 617671; phenotype.
DR MedGen; CN469329.
DR MeSH; D000015.
KW KW-0977:Ichthyosis.
//
ID Helsmoortel-van der Aa syndrome.
AC DI-04149
AR HVDAS.
DE A disorder characterized by intellectual disability, autism spectrum
DE disorder, and dysmorphic facial features including prominent forehead,
DE high hairline, downslanting palpebral fissures, notched eyelids, broad
DE nasal bridge, thin upper lip, and smooth philtrum.
SY MRD28.
DR MIM; 615873; phenotype.
DR MedGen; CN189714.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
KW KW-1268:Autism spectrum disorder.
//
ID Hemangioma, capillary infantile.
AC DI-02546
AR HCI.
DE A condition characterized by dull red, firm, dome-shaped hemangiomas,
DE sharply demarcated from surrounding skin, usually presenting at birth
DE or occurring within the first two or three months of life. They result
DE from highly proliferative, localized growth of capillary endothelium
DE and generally undergo regression and involution without scarring.
SY Hemangioma hereditary capillary.
DR MIM; 602089; phenotype.
DR MedGen; C1865871.
DR MeSH; D018324.
//
ID Hematuria, benign familial.
AC DI-01271
AR BFH.
DE An autosomal dominant condition characterized by non-progressive
DE isolated microscopic hematuria that does not result in renal failure.
DE It is characterized pathologically by thinning of the glomerular
DE basement membrane.
SY Thin basement membrane nephropathy.
SY Thin membrane nephropathy.
SY TMN.
DR MIM; 141200; phenotype.
DR MedGen; C0241908.
DR MedGen; C0403440.
DR MeSH; D006417.
//
ID Heme oxygenase 1 deficiency.
AC DI-03193
AR HMOX1D.
DE A disease characterized by impaired stress hematopoiesis, resulting in
DE marked erythrocyte fragmentation and intravascular hemolysis,
DE coagulation abnormalities, endothelial damage, and iron deposition in
DE renal and hepatic tissues. Clinical features include persistent
DE hemolytic anemia, asplenia, nephritis, generalized erythematous rash,
DE growth retardation and hepatomegaly.
DR MIM; 614034; phenotype.
DR MedGen; C1841651.
DR MeSH; D000743.
//
ID Hemochromatosis 1.
AC DI-01714
AR HFE1.
DE A disorder of iron metabolism characterized by iron overload. Excess
DE iron is deposited in a variety of organs leading to their failure, and
DE resulting in serious illnesses including cirrhosis, hepatomas,
DE diabetes, cardiomyopathy, arthritis, and hypogonadotropic
DE hypogonadism. Severe effects of the disease usually do not appear
DE until after decades of progressive iron loading.
SY Hemochromatosis type 1.
SY Hereditary hemochromatosis.
SY HH.
SY HLAH.
SY Primary hereditary hemochromatosis.
DR MIM; 235200; phenotype.
DR MedGen; C0392514.
DR MeSH; D006432.
//
ID Hemochromatosis 2A.
AC DI-01699
AR HFE2A.
DE A juvenile form of hemochromatosis, a disorder of iron metabolism with
DE excess deposition of iron in a variety of organs leading to their
DE failure, bronze skin pigmentation, hepatic cirrhosis, arthropathy and
DE diabetes. The most common symptoms of juvenile hemochromatosis at
DE presentation are hypogonadism and cardiomyopathy.
SY HEFE2.
SY Hemochromatosis type 2.
SY JH.
SY Juvenile hemochromatosis.
DR MIM; 602390; phenotype.
DR MedGen; C0268060.
DR MedGen; C1865614.
DR MeSH; D006432.
//
ID Hemochromatosis 2B.
AC DI-01700
AR HFE2B.
DE A juvenile form of hemochromatosis, a disorder of iron metabolism with
DE excess deposition of iron in a variety of organs leading to their
DE failure, bronze skin pigmentation, hepatic cirrhosis, arthropathy and
DE diabetes. The most common symptoms of juvenile hemochromatosis at
DE presentation are hypogonadism and cardiomyopathy.
DR MIM; 613313; phenotype.
DR MedGen; C1865616.
DR MeSH; D006432.
//
ID Hemochromatosis 3.
AC DI-01715
AR HFE3.
DE A disorder of iron metabolism characterized by iron overload. Excess
DE iron is deposited in a variety of organs leading to their failure, and
DE resulting in serious illnesses including cirrhosis, hepatomas,
DE diabetes, cardiomyopathy, arthritis, and hypogonadotropic
DE hypogonadism. Severe effects of the disease usually do not appear
DE until after decades of progressive iron loading.
SY Hemochromatosis due to defect in transferrin receptor 2.
DR MIM; 604250; phenotype.
DR MedGen; C1858664.
DR MeSH; D006432.
//
ID Hemochromatosis 4.
AC DI-01701
AR HFE4.
DE A disorder of iron metabolism characterized by iron overload. Excess
DE iron is deposited in a variety of organs leading to their failure, and
DE resulting in serious illnesses including cirrhosis, hepatomas,
DE diabetes, cardiomyopathy, arthritis, and hypogonadotropic
DE hypogonadism. Severe effects of the disease usually do not appear
DE until after decades of progressive iron loading.
SY Hemochromatosis autosomal dominant.
SY Hemochromatosis due to defect in ferroportin.
DR MIM; 606069; phenotype.
DR MedGen; C1853733.
DR MeSH; D006432.
//
ID Hemochromatosis 5.
AC DI-03942
AR HFE5.
DE A disorder of iron metabolism characterized by iron overload. Excess
DE iron is deposited in a variety of organs leading to their failure, and
DE resulting in serious illnesses including cirrhosis, hepatomas,
DE diabetes, cardiomyopathy, arthritis, and hypogonadotropic
DE hypogonadism. Severe effects of the disease usually do not appear
DE until after decades of progressive iron loading.
SY Autosomal dominant iron overload.
SY Hemochromatosis type 5.
DR MIM; 615517; phenotype.
DR MedGen; CN181217.
DR MeSH; D006432.
//
ID Hemoglobin H disease.
AC DI-03202
AR HBH.
DE A form of alpha-thalassemia due to the loss of three alpha genes. This
DE results in high levels of a tetramer of four beta chains (hemoglobin
DE H), causing a severe and life-threatening anemia. Untreated, most
DE patients die in childhood or early adolescence.
SY Alpha-thalassemia hemoglobin H type.
SY Hemoglobin H disease deletional.
SY Hemoglobin H disease non-deletional.
DR MIM; 613978; phenotype.
DR MedGen; C3161174.
DR MedGen; C3279561.
DR MeSH; D017085.
//
ID Hemolytic anemia due to adenylate kinase deficiency.
AC DI-01702
AR HAAKD.
DE A disease characterized by hemolytic anemia and undetectable
DE erythrocyte adenylate kinase activity.
DR MIM; 612631; phenotype.
DR MedGen; C2675459.
DR MeSH; D000745.
KW KW-0360:Hereditary hemolytic anemia.
//
ID Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency.
AC DI-01703
AR HAGGSD.
DE A disease characterized by hemolytic anemia, glutathione deficiency,
DE myopathy, late-onset spinocerebellar degeneration, and peripheral
DE neuropathy.
DR MIM; 230450; phenotype.
DR MedGen; C1856603.
DR MeSH; D000743.
KW KW-0360:Hereditary hemolytic anemia.
//
ID Hemolytic anemia due to glutathione reductase deficiency.
AC DI-05704
AR HAGRD.
DE An autosomal recessive disease characterized by hemolytic anemia and
DE impaired activity of glutathione reductase. Patients experience
DE hemolytic anemia in response to oxidative stress or ingestion of fava
DE beans.
DR MIM; 618660; phenotype.
DR MedGen; CN262919.
DR MeSH; D000745.
KW KW-0360:Hereditary hemolytic anemia.
//
ID Hemolytic anemia, CD59-mediated, with or without polyneuropathy.
AC DI-01329
AR HACD59.
DE An autosomal recessive disorder characterized by infantile onset of
DE chronic hemolysis and a relapsing-remitting polyneuropathy, often
DE exacerbated by infection, and manifested as hypotonia, limb muscle
DE weakness, and hyporeflexia.
SY CD59 deficiency.
SY CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy.
DR MIM; 612300; phenotype.
DR MedGen; C2676767.
DR MeSH; D000745.
KW KW-0360:Hereditary hemolytic anemia.
//
ID Hemolytic anemia, congenital, X-linked.
AC DI-05302
AR HAXL.
DE An X-linked hematologic disease characterized by shortened survival of
DE erythrocytes due to congenital hemolysis that cannot be compensated by
DE bone marrow activity. Clinical features are mild jaundice and anemia.
DE Red cells morphology is normal.
DR MIM; 301015; phenotype.
DR MedGen; CN253426.
DR MeSH; D000745.
KW KW-0360:Hereditary hemolytic anemia.
//
ID Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency.
AC DI-01729
AR HA-GPID.
DE A form of anemia in which there is no abnormal hemoglobin or
DE spherocytosis. It is caused by glucose phosphate isomerase deficiency.
DR MIM; 613470; phenotype.
DR MedGen; C3150730.
DR MeSH; D000746.
KW KW-0360:Hereditary hemolytic anemia.
//
ID Hemolytic disease of fetus and newborn, RH-induced.
AC DI-06174
AR HDFNRH.
DE A disease that occurs in pregnancies in which mothers who lack the D
DE antigen (RhD) of the Rh blood group have been exposed to the RhD-
DE positive red cells of the fetus. The resulting maternal autoantibodies
DE cross the placenta and destroy fetal red cells.
SY RH disease.
SY RH fetomaternal incompatibility.
DR MIM; 619462; phenotype.
DR MedGen; CN300241.
DR MeSH; D004899.
//
ID Hemolytic uremic syndrome atypical 1.
AC DI-01704
AR AHUS1.
DE An atypical form of hemolytic uremic syndrome. It is a complex genetic
DE disease characterized by microangiopathic hemolytic anemia,
DE thrombocytopenia, renal failure and absence of episodes of
DE enterocolitis and diarrhea. In contrast to typical hemolytic uremic
DE syndrome, atypical forms have a poorer prognosis, with higher death
DE rates and frequent progression to end-stage renal disease.
SY AHUS.
SY Atypical hemolytic uremic syndrome with H factor anomaly.
SY D(-)HUS.
SY Hemolytic-uremic syndrome.
SY Hemolytic-uremic syndrome without diarrhea.
DR MIM; 235400; phenotype.
DR MedGen; C1856143.
DR MedGen; C2749604.
DR MeSH; D006463.
KW KW-1068:Hemolytic uremic syndrome.
//
ID Hemolytic uremic syndrome atypical 2.
AC DI-02597
AR AHUS2.
DE An atypical form of hemolytic uremic syndrome. It is a complex genetic
DE disease characterized by microangiopathic hemolytic anemia,
DE thrombocytopenia, renal failure and absence of episodes of
DE enterocolitis and diarrhea. In contrast to typical hemolytic uremic
DE syndrome, atypical forms have a poorer prognosis, with higher death
DE rates and frequent progression to end-stage renal disease.
SY Atypical hemolytic uremic with MCP or CD46 anomaly.
DR MIM; 612922; phenotype.
DR MedGen; C2752040.
DR MeSH; D006463.
KW KW-1068:Hemolytic uremic syndrome.
//
ID Hemolytic uremic syndrome atypical 3.
AC DI-02598
AR AHUS3.
DE An atypical form of hemolytic uremic syndrome. It is a complex genetic
DE disease characterized by microangiopathic hemolytic anemia,
DE thrombocytopenia, renal failure and absence of episodes of
DE enterocolitis and diarrhea. In contrast to typical hemolytic uremic
DE syndrome, atypical forms have a poorer prognosis, with higher death
DE rates and frequent progression to end-stage renal disease.
SY Atypical hemolytic uremic syndrome with I factor anomaly.
DR MIM; 612923; phenotype.
DR MedGen; C2752039.
DR MedGen; CN043568.
DR MeSH; D006463.
KW KW-1068:Hemolytic uremic syndrome.
//
ID Hemolytic uremic syndrome atypical 4.
AC DI-02599
AR AHUS4.
DE An atypical form of hemolytic uremic syndrome. It is a complex genetic
DE disease characterized by microangiopathic hemolytic anemia,
DE thrombocytopenia, renal failure and absence of episodes of
DE enterocolitis and diarrhea. In contrast to typical hemolytic uremic
DE syndrome, atypical forms have a poorer prognosis, with higher death
DE rates and frequent progression to end-stage renal disease.
SY Atypical hemolytic uremic syndrome with B factor anomaly.
DR MIM; 612924; phenotype.
DR MedGen; C2752038.
DR MeSH; D006463.
KW KW-1068:Hemolytic uremic syndrome.
//
ID Hemolytic uremic syndrome atypical 5.
AC DI-02600
AR AHUS5.
DE An atypical form of hemolytic uremic syndrome. It is a complex genetic
DE disease characterized by microangiopathic hemolytic anemia,
DE thrombocytopenia, renal failure and absence of episodes of
DE enterocolitis and diarrhea. In contrast to typical hemolytic uremic
DE syndrome, atypical forms have a poorer prognosis, with higher death
DE rates and frequent progression to end-stage renal disease.
SY Atypical hemolytic uremic syndrome with C3 anomaly.
DR MIM; 612925; phenotype.
DR MedGen; C2752037.
DR MeSH; D006463.
KW KW-1068:Hemolytic uremic syndrome.
//
ID Hemolytic uremic syndrome atypical 6.
AC DI-02601
AR AHUS6.
DE An atypical form of hemolytic uremic syndrome. It is a complex genetic
DE disease characterized by microangiopathic hemolytic anemia,
DE thrombocytopenia, renal failure and absence of episodes of
DE enterocolitis and diarrhea. In contrast to typical hemolytic uremic
DE syndrome, atypical forms have a poorer prognosis, with higher death
DE rates and frequent progression to end-stage renal disease.
SY Atypical hemolytic uremic syndrome with thrombomodulin anomaly.
DR MIM; 612926; phenotype.
DR MedGen; C2752036.
DR MeSH; D006463.
KW KW-1068:Hemolytic uremic syndrome.
//
ID Hemolytic uremic syndrome atypical 7.
AC DI-03798
AR AHUS7.
DE An atypical form of hemolytic uremic syndrome characterized by acute
DE onset in the first year of life of microangiopathic hemolytic anemia,
DE thrombocytopenia, and renal failure. After the acute episode, most
DE patients develop chronic renal insufficiency. Unlike other genetic
DE forms of aHUS, AHUS7 is not related to abnormal activation of the
DE complement system.
DR MIM; 615008; phenotype.
DR MedGen; C3808619.
DR MedGen; CN170846.
DR MeSH; D006463.
KW KW-1068:Hemolytic uremic syndrome.
//
ID Hemophagocytic lymphohistiocytosis, familial, 2.
AC DI-01573
AR FHL2.
DE A rare disorder characterized by immune dysregulation with
DE hypercytokinemia, defective function of natural killer cell, and
DE massive infiltration of several organs by activated lymphocytes and
DE macrophages. The clinical features of the disease include fever,
DE hepatosplenomegaly, cytopenia, and less frequently neurological
DE abnormalities ranging from irritability and hypotonia to seizures,
DE cranial nerve deficits and ataxia.
SY HLH2.
SY HPLH2.
DR MIM; 603553; phenotype.
DR MedGen; C1863727.
DR MeSH; D051359.
//
ID Hemophagocytic lymphohistiocytosis, familial, 3.
AC DI-01574
AR FHL3.
DE A rare disorder characterized by immune dysregulation with
DE hypercytokinemia, defective function of natural killer cell, and
DE massive infiltration of several organs by activated lymphocytes and
DE macrophages. The clinical features of the disease include fever,
DE hepatosplenomegaly, cytopenia, and less frequently neurological
DE abnormalities ranging from irritability and hypotonia to seizures,
DE cranial nerve deficits and ataxia.
SY HLH3.
SY HPLH3.
DR MIM; 608898; phenotype.
DR MedGen; C1837174.
DR MeSH; D051359.
//
ID Hemophagocytic lymphohistiocytosis, familial, 4.
AC DI-01575
AR FHL4.
DE A rare disorder characterized by immune dysregulation with
DE hypercytokinemia, defective function of natural killer cell, and
DE massive infiltration of several organs by activated lymphocytes and
DE macrophages. The clinical features of the disease include fever,
DE hepatosplenomegaly, cytopenia, and less frequently neurological
DE abnormalities ranging from irritability and hypotonia to seizures,
DE cranial nerve deficits and ataxia.
SY HLH4.
SY HPLH4.
DR MIM; 603552; phenotype.
DR MedGen; C1863728.
DR MeSH; D051359.
//
ID Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease.
AC DI-02796
AR FHL5.
DE A rare, autosomal recessive disorder characterized by immune
DE dysregulation with hypercytokinemia, defective function of natural
DE killer cell, and massive infiltration of several organs by activated
DE lymphocytes and macrophages. The clinical features of the disease
DE include fever, hepatosplenomegaly, cytopenia, and less frequently
DE neurological abnormalities ranging from irritability and hypotonia to
DE seizures, cranial nerve deficits and ataxia. Some patients may present
DE in early infancy with severe diarrhea, prior to the onset of typical
DE FHL features, whereas others present later in childhood and have a
DE more protracted course without diarrhea. The early-onset diarrhea is
DE due to enteropathy reminiscent of microvillus inclusion disease.
SY HLH5.
SY HPLH5.
DR MIM; 613101; phenotype.
DR MedGen; C2751293.
DR MeSH; D051359.
//
ID Hemophilia A.
AC DI-01705
AR HEMA.
DE A disorder of blood coagulation characterized by a permanent tendency
DE to hemorrhage. About 50% of patients have severe hemophilia resulting
DE in frequent spontaneous bleeding into joints, muscles and internal
DE organs. Less severe forms are characterized by bleeding after trauma
DE or surgery.
SY Classic hemophilia.
SY Factor 8 deficiency.
SY Factor VIII deficiency.
DR MIM; 306700; phenotype.
DR MedGen; C0015506.
DR MedGen; C0019069.
DR MeSH; D006467.
KW KW-0355:Hemophilia.
//
ID Hemophilia B.
AC DI-02248
AR HEMB.
DE An X-linked blood coagulation disorder characterized by a permanent
DE tendency to hemorrhage, due to factor IX deficiency. It is
DE phenotypically similar to hemophilia A, but patients present with
DE fewer symptoms. Many patients are asymptomatic until the hemostatic
DE system is stressed by surgery or trauma.
SY Christmas disease.
SY F9 deficiency.
SY Factor IX deficiency.
SY Plasma thromboplastin component deficiency.
SY Recessive X-linked hemophilia B.
DR MIM; 306900; phenotype.
DR MedGen; C0008533.
DR MedGen; CN043453.
DR MedGen; CN043454.
DR MeSH; D002836.
KW KW-0355:Hemophilia.
//
ID Hemorrhagic destruction of the brain with subependymal calcification and cataracts.
AC DI-03021
AR HDBSCC.
DE A syndrome characterized by congenital cataracts and severe brain
DE abnormalities apparently resulting from hemorrhagic destruction of the
DE brain parenchyma, including the cerebral white matter and basal
DE ganglia. Patients manifest profound developmental delay, and other
DE neurologic features included seizures, spasticity, and hyperreflexia.
DE The clinical course is very severe resulting in death in infancy.
DE Brain imaging shows multifocal intraparenchymal hemorrhage with
DE associated liquefaction and massive cystic degeneration, and
DE calcification in the subependymal region and in brain tissue.
DR MIM; 613730; phenotype.
DR MedGen; C3151000.
DR MeSH; D001927.
DR MeSH; D002114.
//
ID Hengel-Maroofian-Schols syndrome.
AC DI-06285
AR HEMARS.
DE An autosomal recessive disorder characterized by severe global
DE developmental delay apparent from infancy or early childhood. Affected
DE individuals have delayed walking or inability to walk, impaired
DE intellectual development with poor or absent speech, lower limb
DE spasticity, poor overall growth, and dysmorphic facial features. Some
DE patients develop seizures. Brain imaging shows thinning of the
DE posterior part of the corpus callosum, delayed myelination, and
DE cerebral and cerebellar atrophy.
SY Neurodevelopmental disorder with spasticity, facial dysmorphism, and brain abnormalities.
DR MIM; 619641; phenotype.
DR MedGen; CN305051.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Hennekam lymphangiectasia-lymphedema syndrome 1.
AC DI-02804
AR HKLLS1.
DE A form of Hennekam lymphangiectasia-lymphedema syndrome, a generalized
DE lymph-vessels dysplasia characterized by intestinal lymphangiectasia
DE with severe lymphedema of the limbs, genitalia and face. In addition,
DE affected individuals have unusual facies and some manifest
DE intellectual disability. HKLLS1 inheritance is autosomal recessive.
SY Generalized lymphatic dysplasia.
SY Hennekam syndrome.
DR MIM; 235510; phenotype.
DR MedGen; C0340834.
DR MeSH; D008201.
DR MeSH; D008209.
//
ID Hennekam lymphangiectasia-lymphedema syndrome 2.
AC DI-04238
AR HKLLS2.
DE A form of Hennekam lymphangiectasia-lymphedema syndrome, a generalized
DE lymph-vessels dysplasia characterized by intestinal lymphangiectasia
DE with severe lymphedema of the limbs, genitalia and face. In addition,
DE affected individuals have unusual facies and some manifest
DE intellectual disability. HKLLS2 individuals have lymphangiectasia
DE variably affecting the gut, pericardium, lungs, kidneys, and
DE genitalia. Other features include camptodactyly and rare syndactyly.
DE HKLLS2 inheritance is autosomal recessive.
DR MIM; 616006; phenotype.
DR MedGen; CN219642.
DR MeSH; D008201.
DR MeSH; D008209.
//
ID Hennekam lymphangiectasia-lymphedema syndrome 3.
AC DI-05355
AR HKLLS3.
DE A form of Hennekam lymphangiectasia-lymphedema syndrome, a generalized
DE lymph-vessels dysplasia characterized by intestinal lymphangiectasia
DE with severe lymphedema of the limbs, genitalia and face. In addition,
DE affected individuals have unusual facies and some manifest
DE intellectual disability. HKLLS3 is characterized by widespread
DE congenital edema, facial dysmorphism and protein-losing enteropathy of
DE variable severity. HKLLS3 transmission pattern is consistent with
DE autosomal recessive inheritance.
DR MIM; 618154; phenotype.
DR MedGen; CN257744.
DR MeSH; D008201.
DR MeSH; D008209.
//
ID Hepatic adenomas familial.
AC DI-02645
AR HEPAF.
DE Rare benign liver tumors of presumable epithelial origin that develop
DE in an otherwise normal liver. Hepatic adenomas may be single or
DE multiple. They consist of sheets of well-differentiated hepatocytes
DE that contain fat and glycogen and can produce bile. Bile ducts or
DE portal areas are absent. Kupffer cells, if present, are reduced in
DE number and are non-functional. Conditions associated with adenomas are
DE insulin-dependent diabetes mellitus and glycogen storage diseases
DE (types 1 and 3).
SY Familial liver cell adenomas.
SY HA.
SY Hepatocellular adenomas.
DR MIM; 142330; phenotype.
DR MedGen; C1840646.
DR MeSH; D018248.
//
ID Hepatic lipase deficiency.
AC DI-01706
AR HL deficiency.
DE A disorder characterized by elevated levels of beta-migrating very low
DE density lipoproteins, and abnormally triglyceride-rich low and high
DE density lipoproteins.
DR MIM; 614025; phenotype.
DR MedGen; C3151466.
DR MeSH; D008052.
//
ID Hepatic venoocclusive disease with immunodeficiency.
AC DI-01707
AR VODI.
DE Autosomal recessive primary immunodeficiency associated with hepatic
DE vascular occlusion and fibrosis. The immunodeficiency is characterized
DE by severe hypogammaglobulinemia, combined T and B-cell
DE immunodeficiency, absent lymph node germinal centers, and absent
DE tissue plasma cells.
DR MIM; 235550; phenotype.
DR MedGen; C1856128.
//
ID Hepatitis, fulminant viral.
AC DI-05641
AR FVH.
DE An autosomal recessive form of fulminant viral hepatitis, a disease
DE that strikes otherwise healthy individuals during primary infection
DE with common liver-tropic viruses. FVH is characterized by severe liver
DE destruction in the absence of a preexisting liver disorder, leading to
DE encephalopathy within 8 weeks of the onset of the first symptoms.
DR MIM; 618549; phenotype.
DR MedGen; CN262217.
DR MeSH; D017114.
//
ID Hepatocellular carcinoma.
AC DI-01708
AR HCC.
DE A primary malignant neoplasm of epithelial liver cells. The major risk
DE factors for HCC are chronic hepatitis B virus (HBV) infection, chronic
DE hepatitis C virus (HCV) infection, prolonged dietary aflatoxin
DE exposure, alcoholic cirrhosis, and cirrhosis due to other causes.
SY Hepatocellular cancer.
SY Hepatoma.
SY LCC.
SY Liver cancer.
SY Liver cell carcinoma.
DR MIM; 114550; phenotype.
DR MedGen; C0206624.
DR MedGen; C0345904.
DR MedGen; C2239176.
DR MedGen; C2676033.
DR MeSH; D006528.
//
ID Hepatoerythropoietic porphyria.
AC DI-00542
AR HEP.
DE A form of porphyria. Porphyrias are inherited defects in the
DE biosynthesis of heme, resulting in the accumulation and increased
DE excretion of porphyrins or porphyrin precursors. They are classified
DE as erythropoietic or hepatic, depending on whether the enzyme
DE deficiency occurs in red blood cells or in the liver. HEP is a
DE cutaneous porphyria that presents in infancy. It is characterized
DE biochemically by excessive excretion of acetate-substituted porphyrins
DE and accumulation of protoporphyrin in erythrocytes. Uroporphyrinogen
DE decarboxylase levels are very low in erythrocytes and cultured skin
DE fibroblasts.
DR MIM; 176100; phenotype.
DR MedGen; C0162569.
DR MeSH; D017121.
//
ID Hereditary angiopathy with nephropathy aneurysms and muscle cramps.
AC DI-01710
AR HANAC.
DE The clinical renal manifestations include hematuria and bilateral
DE large cysts. Histologic analysis revealed complex basement membrane
DE defects in kidney and skin. The systemic angiopathy appears to affect
DE both small vessels and large arteries.
DR MIM; 611773; phenotype.
DR MedGen; C2673195.
//
ID Hereditary coproporphyria.
AC DI-00545
AR HCP.
DE A form of porphyria. Porphyrias are inherited defects in the
DE biosynthesis of heme, resulting in the accumulation and increased
DE excretion of porphyrins or porphyrin precursors. They are classified
DE as erythropoietic or hepatic, depending on whether the enzyme
DE deficiency occurs in red blood cells or in the liver. Hereditary
DE coproporphyria is an acute hepatic porphyria characterized by skin
DE photosensitivity, attacks of abdominal pain, neurological
DE disturbances, and psychiatric symptoms. Most attacks are precipitated
DE by drugs, alcohol, caloric deprivation, infections, or endocrine
DE factors. Hereditary coproporphyria is biochemically characterized by
DE overexcretion of coproporphyrin III in the urine and in the feces.
SY Coproporphyrinogen oxidase deficiency.
SY CPO deficiency.
SY CPOX deficiency.
SY CPRO deficiency.
DR MIM; 121300; phenotype.
DR MedGen; C0162531.
DR MedGen; C0342859.
DR MeSH; D046349.
//
ID Hereditary diffuse gastric cancer.
AC DI-01645
AR HDGC.
DE A cancer predisposition syndrome with increased susceptibility to
DE diffuse gastric cancer. Diffuse gastric cancer is a malignant disease
DE characterized by poorly differentiated infiltrating lesions resulting
DE in thickening of the stomach. Malignant tumors start in the stomach,
DE can spread to the esophagus or the small intestine, and can extend
DE through the stomach wall to nearby lymph nodes and organs. It also can
DE metastasize to other parts of the body.
SY Gastric cancer familial diffuse.
SY Gastric cancer familial diffuse and cleft lip with or without cleft palate.
DR MIM; 137215; phenotype.
DR MedGen; C3149287.
DR MeSH; D013274.
//
ID Hereditary folate malabsorption.
AC DI-01712
AR HFM.
DE Rare autosomal recessive disorder characterized by impaired intestinal
DE folate absorption with folate deficiency resulting in anemia,
DE hypoimmunoglobulinemia with recurrent infections, and recurrent or
DE chronic diarrhea. In many patients, neurological abnormalities such as
DE seizures or intellectual disability become apparent during early
DE childhood, attributed to impaired transport of folates into the
DE central nervous system. When diagnosed early, the disorder can be
DE treated by administration of folate. If untreated, it can be fatal
DE and, if treatment is delayed, the neurological defects can become
DE permanent.
DR MIM; 229050; phenotype.
DR MedGen; C0342705.
//
ID Hereditary fructose intolerance.
AC DI-01713
AR HFI.
DE Autosomal recessive disease that results in an inability to metabolize
DE fructose and related sugars. Complete exclusion of fructose results in
DE dramatic recovery; however, if not treated properly, HFI subjects
DE suffer episodes of hypoglycemia, general ill condition, and risk of
DE death the remainder of life.
DR MIM; 229600; phenotype.
DR MedGen; C0016751.
//
ID Hereditary hypophosphatemic rickets with hypercalciuria.
AC DI-01719
AR HHRH.
DE Autosomal recessive form of hypophosphatemia characterized by reduced
DE renal phosphate reabsorption and rickets. Increased serum levels of
DE 1,25-dihydroxyvitamin D lead to increase in urinary calcium excretion.
DR MIM; 241530; phenotype.
DR MedGen; C0342645.
//
ID Hereditary intrinsic factor deficiency.
AC DI-01720
AR IFD.
DE Autosomal recessive disorder characterized by megaloblastic anemia.
SY Congenital pernicious anemia.
DR MIM; 261000; phenotype.
DR MedGen; C1394891.
//
ID Hereditary leiomyomatosis and renal cell cancer.
AC DI-02003
AR HLRCC.
DE A disorder characterized by predisposition to cutaneous and uterine
DE leiomyomas, and papillary type 2 renal cancer which occurs in about
DE 20% of patients.
SY Leiomyoma multiple cutaneous.
SY Leiomyomatosis and renal cell cancer hereditary.
SY LRCC.
SY MCL.
SY MCUL1.
SY Multiple cutaneous and uterine leiomyomata.
SY Multiple cutaneous and uterine leiomyomata 1 with or without renal cell carcinoma.
DR MIM; 150800; phenotype.
DR MedGen; C1708350.
DR MedGen; C1835485.
DR MeSH; D018231.
//
ID Hereditary multiple exostoses 1.
AC DI-01725
AR EXT1.
DE EXT is a genetically heterogeneous bone disorder caused by genes
DE segregating on human chromosomes 8, 11, and 19 and designated EXT1,
DE EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal
DE disorder primarily affecting endochondral bone during growth. The
DE disease is characterized by formation of numerous cartilage-capped,
DE benign bone tumors (osteocartilaginous exostoses or osteochondromas)
DE that are often accompanied by skeletal deformities and short stature.
DE In a small percentage of cases exostoses have exhibited malignant
DE transformation resulting in an osteosarcoma or chondrosarcoma.
DE Osteochondromas development can also occur as a sporadic event.
DR MIM; 133700; phenotype.
DR MedGen; C0015306.
//
ID Hereditary multiple exostoses 2.
AC DI-01726
AR EXT2.
DE EXT is a genetically heterogeneous bone disorder caused by genes
DE segregating on human chromosomes 8, 11, and 19 and designated EXT1,
DE EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal
DE disorder primarily affecting endochondral bone during growth. The
DE disease is characterized by formation of numerous cartilage-capped,
DE benign bone tumors (osteocartilaginous exostoses or osteochondromas)
DE that are often accompanied by skeletal deformities and short stature.
DE In a small percentage of cases exostoses have exhibited malignant
DE transformation resulting in an osteosarcoma or chondrosarcoma.
DE Osteochondromas development can also occur as a sporadic event.
DR MIM; 133701; phenotype.
DR MedGen; C1851413.
//
ID Hereditary neuralgic amyotrophy.
AC DI-01728
AR HNA.
DE Autosomal dominant form of recurrent focal neuropathy characterized
DE clinically by acute, recurrent episodes of brachial plexus neuropathy
DE with muscle weakness and atrophy preceded by severe pain in the
DE affected arm. HNA is triggered by environmental factors such as
DE infection or parturition.
SY Hereditary brachial plexus neuropathy.
SY Hereditary neuralgic amyotrophy with predilection for brachial plexus.
SY NAPB.
SY Neuritis with brachial predilection.
DR MIM; 162100; phenotype.
DR MedGen; C1834304.
//
ID Hereditary neuropathy with liability to pressure palsies.
AC DI-00546
AR HNPP.
DE A neurologic disorder characterized by transient episodes of decreased
DE perception or peripheral nerve palsies after slight traction,
DE compression or minor traumas.
SY Familial recurrent polyneuropathy.
SY Tomaculous neuropathy.
DR MIM; 162500; phenotype.
DR MedGen; C0393814.
DR MeSH; D011115.
KW KW-0622:Neuropathy.
//
ID Hereditary neutrophilia.
AC DI-02545
AR NEUTROPHILIA.
DE A form of lifelong, persistent neutrophilia, a condition characterized
DE by an increase in the number of neutrophils in the blood.
DR MIM; 162830; phenotype.
DR MedGen; C0543669.
DR MeSH; D007964.
//
ID Hereditary non-polyposis colorectal cancer 1.
AC DI-00550
AR HNPCC1.
DE An autosomal dominant disease associated with marked increase in
DE cancer susceptibility. It is characterized by a familial
DE predisposition to early-onset colorectal carcinoma (CRC) and extra-
DE colonic tumors of the gastrointestinal, urological and female
DE reproductive tracts. HNPCC is reported to be the most common form of
DE inherited colorectal cancer in the Western world. Clinically, HNPCC is
DE often divided into two subgroups. Type I is characterized by
DE hereditary predisposition to colorectal cancer, a young age of onset,
DE and carcinoma observed in the proximal colon. Type II is characterized
DE by increased risk for cancers in certain tissues such as the uterus,
DE ovary, breast, stomach, small intestine, skin, and larynx in addition
DE to the colon. Diagnosis of classical HNPCC is based on the Amsterdam
DE criteria: 3 or more relatives affected by colorectal cancer, one a
DE first degree relative of the other two; 2 or more generation affected;
DE 1 or more colorectal cancers presenting before 50 years of age;
DE exclusion of hereditary polyposis syndromes. The term 'suspected
DE HNPCC' or 'incomplete HNPCC' can be used to describe families who do
DE not or only partially fulfill the Amsterdam criteria, but in whom a
DE genetic basis for colon cancer is strongly suspected.
SY Hereditary non-polyposis colorectal cancer 3.
SY HNPCC3.
SY Lynch cancer family syndrome.
SY Lynch syndrome.
SY Lynch syndrome type I.
SY Lynch syndrome type II.
DR MIM; 120435; phenotype.
DR MedGen; C0009405.
DR MedGen; C1333990.
DR MedGen; CN068508.
DR MeSH; D003123.
KW KW-0362:Hereditary nonpolyposis colorectal cancer.
//
ID Hereditary non-polyposis colorectal cancer 2.
AC DI-00551
AR HNPCC2.
DE An autosomal dominant disease associated with marked increase in
DE cancer susceptibility. It is characterized by a familial
DE predisposition to early-onset colorectal carcinoma (CRC) and extra-
DE colonic tumors of the gastrointestinal, urological and female
DE reproductive tracts. HNPCC is reported to be the most common form of
DE inherited colorectal cancer in the Western world. Clinically, HNPCC is
DE often divided into two subgroups. Type I is characterized by
DE hereditary predisposition to colorectal cancer, a young age of onset,
DE and carcinoma observed in the proximal colon. Type II is characterized
DE by increased risk for cancers in certain tissues such as the uterus,
DE ovary, breast, stomach, small intestine, skin, and larynx in addition
DE to the colon. Diagnosis of classical HNPCC is based on the Amsterdam
DE criteria: 3 or more relatives affected by colorectal cancer, one a
DE first degree relative of the other two; 2 or more generation affected;
DE 1 or more colorectal cancers presenting before 50 years of age;
DE exclusion of hereditary polyposis syndromes. The term 'suspected
DE HNPCC' or 'incomplete HNPCC' can be used to describe families who do
DE not or only partially fulfill the Amsterdam criteria, but in whom a
DE genetic basis for colon cancer is strongly suspected.
DR MIM; 609310; phenotype.
DR MedGen; C1333991.
DR MeSH; D003123.
KW KW-0362:Hereditary nonpolyposis colorectal cancer.
//
ID Hereditary non-polyposis colorectal cancer 4.
AC DI-00553
AR HNPCC4.
DE An autosomal dominant disease associated with marked increase in
DE cancer susceptibility. It is characterized by a familial
DE predisposition to early-onset colorectal carcinoma (CRC) and extra-
DE colonic tumors of the gastrointestinal, urological and female
DE reproductive tracts. HNPCC is reported to be the most common form of
DE inherited colorectal cancer in the Western world. Clinically, HNPCC is
DE often divided into two subgroups. Type I is characterized by
DE hereditary predisposition to colorectal cancer, a young age of onset,
DE and carcinoma observed in the proximal colon. Type II is characterized
DE by increased risk for cancers in certain tissues such as the uterus,
DE ovary, breast, stomach, small intestine, skin, and larynx in addition
DE to the colon. Diagnosis of classical HNPCC is based on the Amsterdam
DE criteria: 3 or more relatives affected by colorectal cancer, one a
DE first degree relative of the other two; 2 or more generation affected;
DE 1 or more colorectal cancers presenting before 50 years of age;
DE exclusion of hereditary polyposis syndromes. The term 'suspected
DE HNPCC' or 'incomplete HNPCC' can be used to describe families who do
DE not or only partially fulfill the Amsterdam criteria, but in whom a
DE genetic basis for colon cancer is strongly suspected.
DR MIM; 614337; phenotype.
DR MedGen; C1838333.
DR MeSH; D003123.
KW KW-0362:Hereditary nonpolyposis colorectal cancer.
//
ID Hereditary non-polyposis colorectal cancer 5.
AC DI-00554
AR HNPCC5.
DE An autosomal dominant disease associated with marked increase in
DE cancer susceptibility. It is characterized by a familial
DE predisposition to early-onset colorectal carcinoma (CRC) and extra-
DE colonic tumors of the gastrointestinal, urological and female
DE reproductive tracts. HNPCC is reported to be the most common form of
DE inherited colorectal cancer in the Western world. Clinically, HNPCC is
DE often divided into two subgroups. Type I is characterized by
DE hereditary predisposition to colorectal cancer, a young age of onset,
DE and carcinoma observed in the proximal colon. Type II is characterized
DE by increased risk for cancers in certain tissues such as the uterus,
DE ovary, breast, stomach, small intestine, skin, and larynx in addition
DE to the colon. Diagnosis of classical HNPCC is based on the Amsterdam
DE criteria: 3 or more relatives affected by colorectal cancer, one a
DE first degree relative of the other two; 2 or more generation affected;
DE 1 or more colorectal cancers presenting before 50 years of age;
DE exclusion of hereditary polyposis syndromes. The term 'suspected
DE HNPCC' or 'incomplete HNPCC' can be used to describe families who do
DE not or only partially fulfill the Amsterdam criteria, but in whom a
DE genetic basis for colon cancer is strongly suspected.
DR MIM; 614350; phenotype.
DR MedGen; C1833477.
DR MeSH; D003123.
KW KW-0362:Hereditary nonpolyposis colorectal cancer.
//
ID Hereditary non-polyposis colorectal cancer 6.
AC DI-00555
AR HNPCC6.
DE An autosomal dominant disease associated with marked increase in
DE cancer susceptibility. It is characterized by a familial
DE predisposition to early-onset colorectal carcinoma (CRC) and extra-
DE colonic tumors of the gastrointestinal, urological and female
DE reproductive tracts. HNPCC is reported to be the most common form of
DE inherited colorectal cancer in the Western world. Clinically, HNPCC is
DE often divided into two subgroups. Type I is characterized by
DE hereditary predisposition to colorectal cancer, a young age of onset,
DE and carcinoma observed in the proximal colon. Type II is characterized
DE by increased risk for cancers in certain tissues such as the uterus,
DE ovary, breast, stomach, small intestine, skin, and larynx in addition
DE to the colon. Diagnosis of classical HNPCC is based on the Amsterdam
DE criteria: 3 or more relatives affected by colorectal cancer, one a
DE first degree relative of the other two; 2 or more generation affected;
DE 1 or more colorectal cancers presenting before 50 years of age;
DE exclusion of hereditary polyposis syndromes. The term 'suspected
DE HNPCC' or 'incomplete HNPCC' can be used to describe families who do
DE not or only partially fulfill the Amsterdam criteria, but in whom a
DE genetic basis for colon cancer is strongly suspected.
DR MIM; 614331; phenotype.
DR MedGen; C1860896.
DR MeSH; D003123.
KW KW-0362:Hereditary nonpolyposis colorectal cancer.
//
ID Hereditary non-polyposis colorectal cancer 7.
AC DI-00556
AR HNPCC7.
DE An autosomal dominant disease associated with marked increase in
DE cancer susceptibility. It is characterized by a familial
DE predisposition to early-onset colorectal carcinoma (CRC) and extra-
DE colonic tumors of the gastrointestinal, urological and female
DE reproductive tracts. HNPCC is reported to be the most common form of
DE inherited colorectal cancer in the Western world. Clinically, HNPCC is
DE often divided into two subgroups. Type I is characterized by
DE hereditary predisposition to colorectal cancer, a young age of onset,
DE and carcinoma observed in the proximal colon. Type II is characterized
DE by increased risk for cancers in certain tissues such as the uterus,
DE ovary, breast, stomach, small intestine, skin, and larynx in addition
DE to the colon. Diagnosis of classical HNPCC is based on the Amsterdam
DE criteria: 3 or more relatives affected by colorectal cancer, one a
DE first degree relative of the other two; 2 or more generation affected;
DE 1 or more colorectal cancers presenting before 50 years of age;
DE exclusion of hereditary polyposis syndromes. The term 'suspected
DE HNPCC' or 'incomplete HNPCC' can be used to describe families who do
DE not or only partially fulfill the Amsterdam criteria, but in whom a
DE genetic basis for colon cancer is strongly suspected.
DR MIM; 614385; phenotype.
DR MedGen; C1858380.
DR MeSH; D003123.
KW KW-0362:Hereditary nonpolyposis colorectal cancer.
//
ID Hereditary non-polyposis colorectal cancer 8.
AC DI-02724
AR HNPCC8.
DE An autosomal dominant disease associated with marked increase in
DE cancer susceptibility. It is characterized by a familial
DE predisposition to early-onset colorectal carcinoma (CRC) and extra-
DE colonic tumors of the gastrointestinal, urological and female
DE reproductive tracts. HNPCC is reported to be the most common form of
DE inherited colorectal cancer in the Western world. Clinically, HNPCC is
DE often divided into two subgroups. Type I is characterized by
DE hereditary predisposition to colorectal cancer, a young age of onset,
DE and carcinoma observed in the proximal colon. Type II is characterized
DE by increased risk for cancers in certain tissues such as the uterus,
DE ovary, breast, stomach, small intestine, skin, and larynx in addition
DE to the colon. Diagnosis of classical HNPCC is based on the Amsterdam
DE criteria: 3 or more relatives affected by colorectal cancer, one a
DE first degree relative of the other two; 2 or more generation affected;
DE 1 or more colorectal cancers presenting before 50 years of age;
DE exclusion of hereditary polyposis syndromes. The term 'suspected
DE HNPCC' or 'incomplete HNPCC' can be used to describe families who do
DE not or only partially fulfill the Amsterdam criteria, but in whom a
DE genetic basis for colon cancer is strongly suspected.
DR MIM; 613244; phenotype.
DR MedGen; C2750471.
DR MeSH; D003123.
KW KW-0362:Hereditary nonpolyposis colorectal cancer.
//
ID Hereditary pyropoikilocytosis.
AC DI-01737
AR HPP.
DE Autosomal recessive hematologic disorder characterized by hemolytic
DE anemia, microspherocytosis, poikilocytosis, and an unusual thermal
DE sensitivity of red cells.
DR MIM; 266140; phenotype.
DR MedGen; C0520739.
//
ID Hereditary susceptibility to Wilms tumor 5.
AC DI-01738
AR WT5.
DE Pediatric malignancy of kidney and one of the most common solid
DE cancers in childhood.
DR MIM; 601583; phenotype.
DR MedGen; C1832099.
//
ID Hermansky-Pudlak syndrome 1.
AC DI-00557
AR HPS1.
DE A form of Hermansky-Pudlak syndrome, a genetically heterogeneous
DE autosomal recessive disorder characterized by oculocutaneous albinism,
DE bleeding due to platelet storage pool deficiency, and lysosomal
DE storage defects. This syndrome results from defects of diverse
DE cytoplasmic organelles including melanosomes, platelet dense granules
DE and lysosomes. Ceroid storage in the lungs is associated with
DE pulmonary fibrosis, a common cause of premature death in individuals
DE with HPS.
SY Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.
SY Delta storage pool disease.
DR MIM; 203300; phenotype.
DR MedGen; C0079504.
DR MedGen; C2931875.
DR MeSH; D022861.
KW KW-0363:Hermansky-Pudlak syndrome.
//
ID Hermansky-Pudlak syndrome 10.
AC DI-04775
AR HPS10.
DE A form of Hermansky-Pudlak syndrome, a genetically heterogeneous
DE autosomal recessive disorder characterized by oculocutaneous albinism,
DE bleeding due to platelet storage pool deficiency, and lysosomal
DE storage defects. This syndrome results from defects of diverse
DE cytoplasmic organelles including melanosomes, platelet dense granules
DE and lysosomes. Ceroid storage in the lungs is associated with
DE pulmonary fibrosis, a common cause of premature death in individuals
DE with HPS. HPS10 patients manifest albinism, neutropenia,
DE immunodeficiency, neurodevelopmental delay, generalized seizures, and
DE impaired hearing.
DR MIM; 617050; phenotype.
DR MedGen; CN230106.
DR MeSH; D022861.
KW KW-0363:Hermansky-Pudlak syndrome.
//
ID Hermansky-Pudlak syndrome 11.
AC DI-06004
AR HPS11.
DE A form of Hermansky-Pudlak syndrome, a genetically heterogeneous
DE autosomal recessive disorder characterized by oculocutaneous albinism,
DE bleeding due to platelet storage pool deficiency, and lysosomal
DE storage defects. This syndrome results from defects of diverse
DE cytoplasmic organelles including melanosomes, platelet dense granules
DE and lysosomes. Ceroid storage in the lungs is associated with
DE pulmonary fibrosis, a common cause of premature death in individuals
DE with HPS.
DR MIM; 619172; phenotype.
DR MedGen; CN295243.
DR MeSH; D022861.
KW KW-0363:Hermansky-Pudlak syndrome.
//
ID Hermansky-Pudlak syndrome 2.
AC DI-00558
AR HPS2.
DE A form of Hermansky-Pudlak syndrome, a genetically heterogeneous
DE autosomal recessive disorder characterized by oculocutaneous albinism,
DE bleeding due to platelet storage pool deficiency, and lysosomal
DE storage defects. This syndrome results from defects of diverse
DE cytoplasmic organelles including melanosomes, platelet dense granules
DE and lysosomes. Ceroid storage in the lungs is associated with
DE pulmonary fibrosis, a common cause of premature death in individuals
DE with HPS. HPS2 differs from the other forms of HPS in that it includes
DE immunodeficiency in its phenotype and patients with HPS2 have an
DE increased susceptibility to infections.
SY Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.
SY Delta storage pool disease.
DR MIM; 608233; phenotype.
DR MedGen; C1842362.
DR MeSH; D022861.
KW KW-0363:Hermansky-Pudlak syndrome.
//
ID Hermansky-Pudlak syndrome 3.
AC DI-00559
AR HPS3.
DE A form of Hermansky-Pudlak syndrome, a genetically heterogeneous
DE autosomal recessive disorder characterized by oculocutaneous albinism,
DE bleeding due to platelet storage pool deficiency, and lysosomal
DE storage defects. This syndrome results from defects of diverse
DE cytoplasmic organelles including melanosomes, platelet dense granules
DE and lysosomes. Ceroid storage in the lungs is associated with
DE pulmonary fibrosis, a common cause of premature death in individuals
DE with HPS.
SY Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.
SY Delta storage pool disease.
DR MIM; 614072; phenotype.
DR MedGen; CN068829.
DR MeSH; D022861.
KW KW-0363:Hermansky-Pudlak syndrome.
//
ID Hermansky-Pudlak syndrome 4.
AC DI-00560
AR HPS4.
DE A form of Hermansky-Pudlak syndrome, a genetically heterogeneous
DE autosomal recessive disorder characterized by oculocutaneous albinism,
DE bleeding due to platelet storage pool deficiency, and lysosomal
DE storage defects. This syndrome results from defects of diverse
DE cytoplasmic organelles including melanosomes, platelet dense granules
DE and lysosomes. Ceroid storage in the lungs is associated with
DE pulmonary fibrosis, a common cause of premature death in individuals
DE with HPS.
SY Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.
SY Delta storage pool disease.
DR MIM; 614073; phenotype.
DR MedGen; C3484357.
DR MeSH; D022861.
KW KW-0363:Hermansky-Pudlak syndrome.
//
ID Hermansky-Pudlak syndrome 5.
AC DI-00561
AR HPS5.
DE A form of Hermansky-Pudlak syndrome, a genetically heterogeneous
DE autosomal recessive disorder characterized by oculocutaneous albinism,
DE bleeding due to platelet storage pool deficiency, and lysosomal
DE storage defects. This syndrome results from defects of diverse
DE cytoplasmic organelles including melanosomes, platelet dense granules
DE and lysosomes. Ceroid storage in the lungs is associated with
DE pulmonary fibrosis, a common cause of premature death in individuals
DE with HPS.
SY Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.
SY Delta storage pool disease.
DR MIM; 614074; phenotype.
DR MedGen; CN068618.
DR MeSH; D022861.
KW KW-0363:Hermansky-Pudlak syndrome.
//
ID Hermansky-Pudlak syndrome 6.
AC DI-00562
AR HPS6.
DE A form of Hermansky-Pudlak syndrome, a genetically heterogeneous
DE autosomal recessive disorder characterized by oculocutaneous albinism,
DE bleeding due to platelet storage pool deficiency, and lysosomal
DE storage defects. This syndrome results from defects of diverse
DE cytoplasmic organelles including melanosomes, platelet dense granules
DE and lysosomes. Ceroid storage in the lungs is associated with
DE pulmonary fibrosis, a common cause of premature death in individuals
DE with HPS.
SY Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.
SY Delta storage pool disease.
DR MIM; 614075; phenotype.
DR MedGen; CN068617.
DR MeSH; D022861.
KW KW-0363:Hermansky-Pudlak syndrome.
//
ID Hermansky-Pudlak syndrome 7.
AC DI-00563
AR HPS7.
DE A form of Hermansky-Pudlak syndrome, a genetically heterogeneous
DE autosomal recessive disorder characterized by oculocutaneous albinism,
DE bleeding due to platelet storage pool deficiency, and lysosomal
DE storage defects. This syndrome results from defects of diverse
DE cytoplasmic organelles including melanosomes, platelet dense granules
DE and lysosomes. Ceroid storage in the lungs is associated with
DE pulmonary fibrosis, a common cause of premature death in individuals
DE with HPS.
SY Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.
SY Delta storage pool disease.
DR MIM; 614076; phenotype.
DR MedGen; C3279756.
DR MeSH; D022861.
KW KW-0363:Hermansky-Pudlak syndrome.
//
ID Hermansky-Pudlak syndrome 8.
AC DI-00564
AR HPS8.
DE A form of Hermansky-Pudlak syndrome, a genetically heterogeneous
DE autosomal recessive disorder characterized by oculocutaneous albinism,
DE bleeding due to platelet storage pool deficiency, and lysosomal
DE storage defects. This syndrome results from defects of diverse
DE cytoplasmic organelles including melanosomes, platelet dense granules
DE and lysosomes. Ceroid storage in the lungs is associated with
DE pulmonary fibrosis, a common cause of premature death in individuals
DE with HPS.
SY Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.
SY Delta storage pool disease.
DR MIM; 614077; phenotype.
DR MedGen; CN068492.
DR MedGen; CN201510.
DR MeSH; D022861.
KW KW-0363:Hermansky-Pudlak syndrome.
//
ID Hermansky-Pudlak syndrome 9.
AC DI-03187
AR HPS9.
DE A form of Hermansky-Pudlak syndrome, a genetically heterogeneous
DE autosomal recessive disorder characterized by oculocutaneous albinism,
DE bleeding due to platelet storage pool deficiency, and lysosomal
DE storage defects. This syndrome results from defects of diverse
DE cytoplasmic organelles including melanosomes, platelet dense granules
DE and lysosomes. Ceroid storage in the lungs is associated with
DE pulmonary fibrosis, a common cause of premature death in individuals
DE with HPS.
SY Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.
SY Delta storage pool disease.
DR MIM; 614171; phenotype.
DR MedGen; C3280026.
DR MeSH; D022861.
KW KW-0363:Hermansky-Pudlak syndrome.
//
ID Heterotaxy, visceral, 1, X-linked.
AC DI-02463
AR HTX1.
DE A form of visceral heterotaxy, a complex disorder due to disruption of
DE the normal left-right asymmetry of the thoracoabdominal organs.
DE Visceral heterotaxy or situs ambiguus results in randomization of the
DE placement of visceral organs, including the heart, lungs, liver,
DE spleen, and stomach. The organs are oriented randomly with respect to
DE the left-right axis and with respect to one another. It can be
DE associated with a variety of congenital defects including cardiac
DE malformations.
SY Dextrocardia with other cardiac malformations.
SY Laterality X-linked.
SY Situs inversus with complex cardiac defects and splenic defects X-linked.
DR MIM; 306955; phenotype.
DR MedGen; C1844020.
DR MeSH; D059446.
KW KW-1056:Heterotaxy.
//
ID Heterotaxy, visceral, 10, autosomal, with male infertility.
AC DI-06266
AR HTX10.
DE A form of visceral heterotaxy, a complex disorder due to disruption of
DE the normal left-right asymmetry of the thoracoabdominal organs.
DE Visceral heterotaxy or situs ambiguus results in randomization of the
DE placement of visceral organs, including the heart, lungs, liver,
DE spleen, and stomach. The organs are oriented randomly with respect to
DE the left-right axis and with respect to one another. It can be
DE associated with a variety of congenital defects including cardiac
DE malformations. HTX10 is an autosomal recessive form associated with
DE male infertility.
DR MIM; 619607; phenotype.
DR MedGen; CN301171.
DR MeSH; D059446.
KW KW-1056:Heterotaxy.
//
ID Heterotaxy, visceral, 11, autosomal, with male infertility.
AC DI-06267
AR HTX11.
DE A form of visceral heterotaxy, a complex disorder due to disruption of
DE the normal left-right asymmetry of the thoracoabdominal organs.
DE Visceral heterotaxy or situs ambiguus results in randomization of the
DE placement of visceral organs, including the heart, lungs, liver,
DE spleen, and stomach. The organs are oriented randomly with respect to
DE the left-right axis and with respect to one another. It can be
DE associated with a variety of congenital defects including cardiac
DE malformations. HTX11 is an autosomal recessive form associated with
DE male infertility due to reduced flagellar motility.
DR MIM; 619608; phenotype.
DR MedGen; CN301172.
DR MeSH; D059446.
KW KW-1056:Heterotaxy.
//
ID Heterotaxy, visceral, 12, autosomal.
AC DI-06243
AR HTX12.
DE A form of visceral heterotaxy, a complex disorder due to disruption of
DE the normal left-right asymmetry of the thoracoabdominal organs.
DE Visceral heterotaxy or situs ambiguus results in randomization of the
DE placement of visceral organs, including the heart, lungs, liver,
DE spleen, and stomach. The organs are oriented randomly with respect to
DE the left-right axis and with respect to one another. It can be
DE associated with a variety of congenital defects including cardiac
DE malformations. Early death may occur. HTX12 inheritance is autosomal
DE recessive.
DR MIM; 619702; phenotype.
DR MedGen; CN306198.
DR MeSH; D059446.
KW KW-1056:Heterotaxy.
//
ID Heterotaxy, visceral, 2, autosomal.
AC DI-02413
AR HTX2.
DE A form of visceral heterotaxy, a complex disorder due to disruption of
DE the normal left-right asymmetry of the thoracoabdominal organs.
DE Visceral heterotaxy or situs ambiguus results in randomization of the
DE placement of visceral organs, including the heart, lungs, liver,
DE spleen, and stomach. The organs are oriented randomly with respect to
DE the left-right axis and with respect to one another. It can be
DE associated with a variety of congenital defects including cardiac
DE malformations.
DR MIM; 605376; phenotype.
DR MedGen; C1854334.
DR MeSH; D059446.
KW KW-1056:Heterotaxy.
//
ID Heterotaxy, visceral, 4, autosomal.
AC DI-01884
AR HTX4.
DE A form of visceral heterotaxy, a complex disorder due to disruption of
DE the normal left-right asymmetry of the thoracoabdominal organs.
DE Visceral heterotaxy or situs ambiguus results in randomization of the
DE placement of visceral organs, including the heart, lungs, liver,
DE spleen, and stomach. The organs are oriented randomly with respect to
DE the left-right axis and with respect to one another. It can be
DE associated with a variety of congenital defects including cardiac
DE malformations. HTX4 clinical features include dextrocardia, right
DE aortic arch and a right-sided spleen, anomalies of the inferior and
DE the superior vena cava, atrial ventricular canal defect with dextro-
DE transposed great arteries, pulmonary stenosis, polysplenia and midline
DE liver.
SY Left-right axis malformations.
DR MIM; 613751; phenotype.
DR MedGen; C3151057.
DR MeSH; D059446.
KW KW-1056:Heterotaxy.
//
ID Heterotaxy, visceral, 5, autosomal.
AC DI-01030
AR HTX5.
DE An autosomal dominant form of visceral heterotaxy, a complex disorder
DE due to disruption of the normal left-right asymmetry of the
DE thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results
DE in randomization of the placement of visceral organs, including the
DE heart, lungs, liver, spleen, and stomach. The organs are oriented
DE randomly with respect to the left-right axis and with respect to one
DE another. It can be associated with a variety of congenital defects
DE including cardiac malformations. HTX5 clinical features include situs
DE inversus viscerum or situs ambiguus, congenital heart defect,
DE transposition of the great vessels ventricular septal defect, atrial
DE septal defect, truncus communis, and dextrocardia.
SY Situs inversus viscerum.
SY SIV.
DR MIM; 270100; phenotype.
DR MedGen; C0037221.
DR MedGen; C3495537.
DR MeSH; D059446.
KW KW-1056:Heterotaxy.
//
ID Heterotaxy, visceral, 6, autosomal.
AC DI-03502
AR HTX6.
DE A form of visceral heterotaxy, a complex disorder due to disruption of
DE the normal left-right asymmetry of the thoracoabdominal organs.
DE Visceral heterotaxy or situs ambiguus results in randomization of the
DE placement of visceral organs, including the heart, lungs, liver,
DE spleen, and stomach. The organs are oriented randomly with respect to
DE the left-right axis and with respect to one another. It can be
DE associated with a variety of congenital defects including cardiac
DE malformations. HTX6 clinical features are situs inversus totalis and
DE severe complex cardiac malformations including unbalanced
DE atrioventricular canal defects, transposition of the great arteries
DE with severe pulmonary stenosis, right aortic arch, abnormal systemic
DE venous return and total anomalous pulmonary venous drainage.
DR MIM; 614779; phenotype.
DR MedGen; C3553676.
DR MedGen; CN142516.
DR MeSH; D059446.
KW KW-1056:Heterotaxy.
//
ID Heterotaxy, visceral, 7, autosomal.
AC DI-04636
AR HTX7.
DE A form of visceral heterotaxy, a complex disorder due to disruption of
DE the normal left-right asymmetry of the thoracoabdominal organs.
DE Visceral heterotaxy or situs ambiguus results in randomization of the
DE placement of visceral organs, including the heart, lungs, liver,
DE spleen, and stomach. The organs are oriented randomly with respect to
DE the left-right axis and with respect to one another. It can be
DE associated with a variety of congenital defects including cardiac
DE malformations. HTX7 inheritance is autosomal recessive.
DR MIM; 616749; phenotype.
DR MedGen; CN235018.
DR MeSH; D059446.
KW KW-1056:Heterotaxy.
//
ID Heterotaxy, visceral, 8, autosomal.
AC DI-04866
AR HTX8.
DE A form of visceral heterotaxy, a complex disorder due to disruption of
DE the normal left-right asymmetry of the thoracoabdominal organs.
DE Visceral heterotaxy or situs ambiguus results in randomization of the
DE placement of visceral organs, including the heart, lungs, liver,
DE spleen, and stomach. The organs are oriented randomly with respect to
DE the left-right axis and with respect to one another. It can be
DE associated with a variety of congenital defects including cardiac
DE malformations. HTX8 inheritance is autosomal recessive.
DR MIM; 617205; phenotype.
DR MedGen; CN239116.
DR MeSH; D059446.
KW KW-1056:Heterotaxy.
//
ID Heterotaxy, visceral, 9, autosomal, with male infertility.
AC DI-05875
AR HTX9.
DE A form of visceral heterotaxy, a complex disorder due to disruption of
DE the normal left-right asymmetry of the thoracoabdominal organs.
DE Visceral heterotaxy or situs ambiguus results in randomization of the
DE placement of visceral organs, including the heart, lungs, liver,
DE spleen, and stomach. The organs are oriented randomly with respect to
DE the left-right axis and with respect to one another. It can be
DE associated with a variety of congenital defects including cardiac
DE malformations. HTX9 is an autosomal recessive form associated with
DE male infertility, mainly due to defective sperm motility.
DR MIM; 618948; phenotype.
DR MedGen; CN283286.
DR MeSH; D059446.
KW KW-1056:Heterotaxy.
//
ID Hexokinase deficiency.
AC DI-01739
AR HK deficiency.
DE Rare autosomal recessive disease with nonspherocytic hemolytic anemia
DE as the predominant clinical feature.
DR MIM; 235700; phenotype.
DR MedGen; C0472792.
DR MedGen; C3150343.
//
ID Heyn-Sproul-Jackson syndrome.
AC DI-05727
AR HESJAS.
DE An autosomal dominant form of microcephalic dwarfism. Affected
DE individuals have intrauterine growth retardation, postnatal growth
DE restrictions, proportionate short stature, microcephaly, severe
DE developmental delay and impaired intellectual development. More
DE variable features include sparse hair, short broad metacarpals and
DE phalanges, and mild recurrent infections.
SY Microcephaly, short stature, and impaired intellectual development.
DR MIM; 618724; phenotype.
DR MedGen; CN263103.
DR MeSH; D004392.
DR MeSH; D008607.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
//
ID Hiatt-Neu-Cooper neurodevelopmental syndrome.
AC DI-06098
AR HINCONS.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE global developmental delay, delayed walking or inability to walk,
DE impaired intellectual development, poor or absent speech, axial
DE hypotonia, and facial dysmorphism. Additional variable features may
DE include seizures, autistic or behavioral abnormalities, and brain
DE abnormalities.
DR MIM; 619311; phenotype.
DR MedGen; CN296588.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID High bone mass trait.
AC DI-01741
AR HBM.
DE Rare phenotype characterized by exceptionally dense bones. HBM
DE individuals show otherwise a completely normal skeletal structure and
DE no other unusual clinical findings.
DR MIM; 601884; phenotype.
DR MedGen; C1866079.
DR MedGen; C1866080.
//
ID High molecular weight kininogen deficiency.
AC DI-01744
AR HMWK deficiency.
DE Autosomal recessive coagulation defect. Patients with HWMK deficiency
DE do not have a hemorrhagic tendency, but they exhibit abnormal surface-
DE mediated activation of fibrinolysis.
DR MIM; 228960; phenotype.
DR MedGen; C0272340.
DR MedGen; C1856719.
DR MedGen; C2673570.
DR MedGen; C2673571.
DR MedGen; C2673572.
//
ID Hirschsprung disease 1.
AC DI-01746
AR HSCR1.
DE A disorder of neural crest development characterized by absence of
DE enteric ganglia along a variable length of the intestine. It is the
DE most common cause of congenital intestinal obstruction. Early symptoms
DE range from complete acute neonatal obstruction, characterized by
DE vomiting, abdominal distention and failure to pass stool, to chronic
DE constipation in the older child.
SY Aganglionic megacolon.
SY Colonic aganglionosis.
SY MGC.
DR MIM; 142623; phenotype.
DR MedGen; C0019569.
DR MedGen; C2931876.
DR MedGen; CN030431.
DR MeSH; D006627.
KW KW-0367:Hirschsprung disease.
//
ID Hirschsprung disease 2.
AC DI-01747
AR HSCR2.
DE A disorder of neural crest development characterized by absence of
DE enteric ganglia along a variable length of the intestine. It is the
DE most common cause of congenital intestinal obstruction. Early symptoms
DE range from complete acute neonatal obstruction, characterized by
DE vomiting, abdominal distention and failure to pass stool, to chronic
DE constipation in the older child.
SY Aganglionic megacolon.
SY MGC.
DR MIM; 600155; phenotype.
DR MedGen; C1838564.
DR MeSH; D006627.
KW KW-0367:Hirschsprung disease.
//
ID Hirschsprung disease 3.
AC DI-01745
AR HSCR3.
DE A disorder of neural crest development characterized by absence of
DE enteric ganglia along a variable length of the intestine. It is the
DE most common cause of congenital intestinal obstruction. Early symptoms
DE range from complete acute neonatal obstruction, characterized by
DE vomiting, abdominal distention and failure to pass stool, to chronic
DE constipation in the older child.
DR MIM; 613711; phenotype.
DR MedGen; C2931739.
DR MedGen; C3150974.
DR MeSH; D006627.
KW KW-0367:Hirschsprung disease.
//
ID Hirschsprung disease 4.
AC DI-02982
AR HSCR4.
DE A disorder of neural crest development characterized by absence of
DE enteric ganglia along a variable length of the intestine. It is the
DE most common cause of congenital intestinal obstruction. Early symptoms
DE range from complete acute neonatal obstruction, characterized by
DE vomiting, abdominal distention and failure to pass stool, to chronic
DE constipation in the older child.
DR MIM; 613712; phenotype.
DR MedGen; C3150975.
DR MeSH; D006627.
KW KW-0367:Hirschsprung disease.
//
ID Hirschsprung disease, cardiac defects, and autonomic dysfunction.
AC DI-01748
AR HCAD.
DE A disorder characterized by skip-lesions Hirschsprung disease,
DE craniofacial abnormalities and other dysmorphic features, cardiac
DE defects including ductus arteriosus, small subaortic ventricular
DE septal defect, small atrial septal defect, and autonomic dysfunction.
DR MIM; 613870; phenotype.
DR MedGen; C3151237.
DR MeSH; D006627.
KW KW-0367:Hirschsprung disease.
//
ID Histidinemia.
AC DI-01750
AR HISTID.
DE Autosomal recessive disease characterized by increased histidine and
DE histamine as well as decreased urocanic acid in body fluids.
DR MIM; 235800; phenotype.
DR MedGen; C0220992.
//
ID Histiocytosis-lymphadenopathy plus syndrome.
AC DI-01692
AR HLAS.
DE A syndrome characterized by the combination of features from 2 or more
DE of four histiocytic disorders, originally thought to be distinct:
DE Faisalabad histiocytosis (FHC), sinus histiocytosis with massive
DE lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with
DE insulin-dependent diabetes mellitus syndrome (PHID). FHC features
DE include joint deformities, sensorineural hearing loss, and subsequent
DE development of generalized lymphadenopathy and swellings in the
DE eyelids that contain histiocytes. SHML causes lymph node enlargement
DE in children frequently accompanied by fever, leukocytosis, elevated
DE erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia.
DE H syndrome is characterized by cutaneous hyperpigmentation and
DE hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism;
DE hearing loss is found in about half of patients. PHID is characterized
DE by predominantly antibody-negative insulin-dependent diabetes mellitus
DE associated with pigmented hypertrichosis and variable occurrence of
DE other features of H syndrome.
SY Cutaneous hyperpigmentation with hypertrichosis hepatosplenomegaly heart anomalies and hypogonadism with or without hearing loss.
SY Faisalabad histiocytosis.
SY Familial Rosai-Dorfman disease.
SY Histiocytosis and lymphadenopathy with or without cutaneous cardiac and/or endocrine features joint contractures and/or deafness.
SY Histiocytosis with joint contractures and sensorineural deafness.
SY HJCD.
SY H syndrome.
SY PHID.
SY Pigmented hypertrichosis with insulin-dependent diabetes mellitus.
SY SHML.
SY Sinus histiocytosis and massive lymphadenopathy.
DR MIM; 602782; phenotype.
DR MedGen; C1864445.
DR MeSH; D015618.
//
ID Holocarboxylase synthetase deficiency.
AC DI-00565
AR HLCS deficiency.
DE A neonatal form of multiple carboxylase deficiency, an autosomal
DE recessive disorder of biotin metabolism, characterized by
DE ketoacidosis, hyperammonemia, excretion of abnormal organic acid
DE metabolites, and dermatitis. In holocarboxylase synthetase deficiency,
DE clinical and biochemical symptoms improve dramatically with
DE administration of biotin.
SY Biotin-responsive MCD.
SY Biotin-responsive multiple carboxylase deficiency.
SY Early-onset MCD.
SY Early-onset multiple carboxylase deficiency.
SY MCD neonatal form.
DR MIM; 253270; phenotype.
DR MedGen; C0268581.
DR MeSH; D028922.
//
ID Holoprosencephaly 11.
AC DI-03230
AR HPE11.
DE A structural anomaly of the brain, in which the developing forebrain
DE fails to correctly separate into right and left hemispheres.
DE Holoprosencephaly is genetically heterogeneous and associated with
DE several distinct facies and phenotypic variability.
SY Holoprosencephaly-11.
DR MIM; 614226; phenotype.
DR MedGen; C3280215.
DR MeSH; D016142.
KW KW-0370:Holoprosencephaly.
//
ID Holoprosencephaly 12 with or without pancreatic agenesis.
AC DI-05615
AR HPE12.
DE An autosomal dominant form of holoprosencephaly, a structural anomaly
DE of the brain in which the developing forebrain fails to correctly
DE separate into right and left hemispheres. Holoprosencephaly is
DE genetically heterogeneous and associated with several distinct facies
DE and phenotypic variability. HPE12 clinical features include abnormal
DE forebrain development, dysmorphic features, global developmental
DE delay, learning difficulties, and congenital absence of the pancreas
DE in most patients, resulting in early-onset insulin-dependent diabetes
DE mellitus. Other features may include hearing loss and absence of the
DE gallbladder.
DR MIM; 618500; phenotype.
DR MedGen; CN261026.
DR MeSH; D016142.
KW KW-0370:Holoprosencephaly.
//
ID Holoprosencephaly 13, X-linked.
AC DI-05801
AR HPE13.
DE An X-linked form of holoprosencephaly, a structural anomaly of the
DE brain in which the developing forebrain fails to correctly separate
DE into right and left hemispheres. Holoprosencephaly is genetically
DE heterogeneous and associated with several distinct facies and
DE phenotypic variability. HPE13 features range from full alobar
DE holoprosencephaly with cyclopia to semilobar holoprosencephaly or
DE septooptic dysplasia. Dysmorphic features include microcephaly,
DE hypotelorism, low-set ears, micrognathia, and cleft lip/palate.
DE Patients with a more severe phenotype may die in the newborn period,
DE whereas those with a less severe phenotype show global developmental
DE delay.
DR MIM; 301043; phenotype.
DR MedGen; CN272930.
DR MeSH; D016142.
KW KW-0370:Holoprosencephaly.
//
ID Holoprosencephaly 2.
AC DI-00566
AR HPE2.
DE A structural anomaly of the brain, in which the developing forebrain
DE fails to correctly separate into right and left hemispheres.
DE Holoprosencephaly is genetically heterogeneous and associated with
DE several distinct facies and phenotypic variability.
SY Holoprosencephaly-2.
DR MIM; 157170; phenotype.
DR MedGen; C1834877.
DR MeSH; D016142.
KW KW-0370:Holoprosencephaly.
//
ID Holoprosencephaly 3.
AC DI-00567
AR HPE3.
DE A structural anomaly of the brain, in which the developing forebrain
DE fails to correctly separate into right and left hemispheres.
DE Holoprosencephaly is genetically heterogeneous and associated with
DE several distinct facies and phenotypic variability. The majority of
DE holoprosencephaly type 3 cases are apparently sporadic, although clear
DE examples of autosomal dominant inheritance have been described.
SY Holoprosencephaly-3.
DR MIM; 142945; phenotype.
DR MedGen; C1840529.
DR MeSH; D016142.
KW KW-0370:Holoprosencephaly.
//
ID Holoprosencephaly 4.
AC DI-00568
AR HPE4.
DE A structural anomaly of the brain, in which the developing forebrain
DE fails to correctly separate into right and left hemispheres.
DE Holoprosencephaly is genetically heterogeneous and associated with
DE several distinct facies and phenotypic variability.
SY Holoprosencephaly-4.
DR MIM; 142946; phenotype.
DR MedGen; C1840528.
DR MeSH; D016142.
KW KW-0370:Holoprosencephaly.
//
ID Holoprosencephaly 5.
AC DI-00569
AR HPE5.
DE A structural anomaly of the brain, in which the developing forebrain
DE fails to correctly separate into right and left hemispheres.
DE Holoprosencephaly is genetically heterogeneous and associated with
DE several distinct facies and phenotypic variability.
SY Holoprosencephaly-5.
DR MIM; 609637; phenotype.
DR MedGen; C1864827.
DR MeSH; D016142.
KW KW-0370:Holoprosencephaly.
//
ID Holoprosencephaly 7.
AC DI-00570
AR HPE7.
DE A structural anomaly of the brain, in which the developing forebrain
DE fails to correctly separate into right and left hemispheres.
DE Holoprosencephaly is genetically heterogeneous and associated with
DE several distinct facies and phenotypic variability.
SY Holoprosencephaly-7.
DR MIM; 610828; phenotype.
DR MedGen; C1835820.
DR MeSH; D016142.
KW KW-0370:Holoprosencephaly.
//
ID Holoprosencephaly 9.
AC DI-00571
AR HPE9.
DE A structural anomaly of the brain, in which the developing forebrain
DE fails to correctly separate into right and left hemispheres.
DE Holoprosencephaly is genetically heterogeneous and associated with
DE several distinct facies and phenotypic variability. Holoprosencephaly
DE type 9 is characterized by defective anterior pituitary formation and
DE pan-hypopituitarism, with or without overt forebrain cleavage
DE abnormalities, and holoprosencephaly-like midfacial hypoplasia.
SY Holoprosencephaly-9.
SY Pituitary anomalies with holoprosencephaly-like features.
DR MIM; 610829; phenotype.
DR MedGen; C1835819.
DR MeSH; D016142.
KW KW-0370:Holoprosencephaly.
//
ID Holt-Oram syndrome.
AC DI-01752
AR HOS.
DE Developmental disorder affecting the heart and upper limbs. It is
DE characterized by thumb anomaly and atrial septal defects.
DR MIM; 142900; phenotype.
DR MedGen; C0265264.
//
ID Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity.
AC DI-01972
AR MTHFRD.
DE An autosomal recessive inborn error of folate metabolism. Clinical
DE severity is variable, ranging from severe neurologic features to
DE absence of symptoms. Clinical features include homocysteinuria,
DE homocysteinemia, developmental delay, severe intellectual disability,
DE perinatal death, psychiatric disturbances, and later-onset
DE neurodegenerative disorders.
SY Homocystinuria due to MTHFR deficiency.
SY Methylenetetrahydrofolate reductase deficiency.
SY MTHFR deficiency.
DR MIM; 236250; phenotype.
DR MedGen; C1856058.
DR MedGen; C1856059.
DR MedGen; CN068661.
DR MeSH; D006712.
//
ID Homocystinuria-megaloblastic anemia, cblE complementation type.
AC DI-01970
AR HMAE.
DE An autosomal recessive inborn error of metabolism resulting from
DE defects in the cobalamin-dependent pathway that converts homocysteine
DE to methionine. It causes delayed psychomotor development,
DE megaloblastic anemia, homocystinuria, and hypomethioninemia. Cells
DE from patients with HMAE fail to incorporate methyltetrahydrofolate
DE into methionine in whole cells, but cell extracts show normal
DE methionine synthase activity in the presence of a reducing agent.
SY Homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblE complementation type.
SY Methylcobalamin deficiency cblE type.
SY Vitamin B12-responsive homocystinuria cblE type.
DR MIM; 236270; phenotype.
DR MedGen; C1856057.
DR MeSH; D008661.
//
ID Homocystinuria-megaloblastic anemia, cblG complementation type.
AC DI-01971
AR HMAG.
DE An autosomal recessive inborn error of metabolism resulting from
DE defects in the cobalamin-dependent pathway that converts homocysteine
DE to methionine. It causes delayed psychomotor development,
DE megaloblastic anemia, homocystinuria, and hypomethioninemia.
SY Homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblG complementation type.
SY Methionine synthase deficiency.
SY Methylcobalamin deficiency cblG type.
DR MIM; 250940; phenotype.
DR MedGen; C1855128.
DR MeSH; D008661.
//
ID Hoyeraal-Hreidarsson syndrome.
AC DI-00572
AR HHS.
DE A clinically severe variant of dyskeratosis congenita that is
DE characterized by multisystem involvement, early onset in utero, and
DE often results in death in childhood. Affected individuals show
DE intrauterine growth retardation, microcephaly, cerebellar hypoplasia,
DE delayed development, and bone marrow failure resulting in
DE immunodeficiency.
SY Cerebellar hypoplasia with pancytopenia.
SY Prenatal growth retardation with progressive pancytopenia and cerebellar hypoplasia.
DR MIM; 305000; phenotype.
DR MedGen; C1846142.
DR MeSH; D005317.
DR MeSH; D008607.
DR MeSH; D008831.
DR MeSH; D019871.
KW KW-1011:Dyskeratosis congenita.
//
ID Humerofemoral hypoplasia with radiotibial ray deficiency.
AC DI-05281
AR HHRRD.
DE A severe disease characterized by reduction of all four limbs as well
DE as hypoplasia of the upper limb girdle and pelvis. Rudimentary
DE finger- or toe-like appendages may be present. HHRRD transmission
DE pattern is consistent with autosomal recessive inheritance.
SY HFHRTRD.
DR MIM; 618022; phenotype.
DR MedGen; CN248526.
DR MeSH; D004480.
//
ID Huntington disease.
AC DI-01754
AR HD.
DE A neurodegenerative disorder characterized by involuntary movements
DE (chorea), general motor impairment, psychiatric disorders and
DE dementia. Onset of the disease occurs usually in the third or fourth
DE decade of life. Onset and clinical course depend on the degree of
DE poly-Gln repeat expansion, longer expansions resulting in earlier
DE onset and more severe clinical manifestations. Neuropathology of
DE Huntington disease displays a distinctive pattern with loss of
DE neurons, especially in the caudate and putamen.
DR MIM; 143100; phenotype.
DR MedGen; C0020179.
DR MeSH; D006816.
KW KW-0523:Neurodegeneration.
//
ID Huntington disease-like 1.
AC DI-01755
AR HDL1.
DE Autosomal dominant, early-onset neurodegenerative disorder with
DE prominent psychiatric features.
DR MIM; 603218; phenotype.
DR MedGen; C1864112.
//
ID Huntington disease-like 2.
AC DI-01756
AR HDL2.
DE Huntington disease (HD) is a neurodegenerative disorder resulting
DE primarily from the loss of medium spiny projection neurons in the
DE striatum, especially in the caudate nucleus, and, to a lesser extent,
DE atrophy of mesencephalic and cortical structures. The typical clinical
DE picture of HD combines familial adult onset chorea and subcortical
DE dementia that usually begin during the fourth decade of life.
DR MIM; 606438; phenotype.
DR MedGen; C1847987.
//
ID Huriez syndrome.
AC DI-05520
AR HRZ.
DE An autosomal dominant syndrome characterized by atrophic fibrosis of
DE the skin of the limbs, nail hypoplasia, and palmoplantar keratoderma.
DE Malignant degeneration of affected skin resulting in aggressive
DE squamous cell carcinoma and early metastasis formation is a
DE distinctive feature of the syndrome.
SY Keratoderma with scleroatrophy of the extremities.
SY Scleroatrophic and keratotic dermatosis of limbs.
SY Sclerotylosis.
DR MIM; 181600; phenotype.
DR MedGen; C0406767.
DR MeSH; D007642.
DR MeSH; D012594.
DR MeSH; D012878.
KW KW-1007:Palmoplantar keratoderma.
//
ID Hurthle cell thyroid carcinoma.
AC DI-02876
AR HCTC.
DE A rare type of thyroid cancer accounting for only about 3-10% of all
DE differentiated thyroid cancers. These neoplasms are considered a
DE variant of follicular carcinoma of the thyroid and are referred to as
DE follicular carcinoma, oxyphilic type.
SY Hurthle cell carcinoma.
SY Hurthle cell thyroid neoplasia.
DR MIM; 607464; phenotype.
DR MedGen; C0749424.
DR MeSH; D013964.
//
ID Hutchinson-Gilford progeria syndrome.
AC DI-01757
AR HGPS.
DE Rare genetic disorder characterized by features reminiscent of marked
DE premature aging.
DR MIM; 176670; phenotype.
DR MedGen; C0033300.
DR MedGen; C2750285.
DR MedGen; CN070028.
//
ID Hyaline fibromatosis syndrome.
AC DI-01850
AR HFS.
DE An autosomal recessive syndrome characterized by abnormal growth of
DE hyalinized fibrous tissue usually affecting subcutaneous regions on
DE the scalp, ears, neck, face, hands, and feet. The lesions appear as
DE pearly papules or fleshy nodules. Additional features include gingival
DE hypertrophy, progressive joint contractures resulting in severe
DE limitation of mobility, osteopenia, and osteoporosis. Disease severity
DE is variable. Some individuals manifest symptoms in infancy and have
DE additional visceral or systemic involvement. Hyaline deposits in
DE multiple organs, recurrent infections and intractable diarrhea often
DE lead to early death. Surviving children may suffer from severely
DE reduced mobility due to joint contractures. Other patients have later
DE onset of a milder disorder affecting only the face and digits.
SY Infantile systemic hyalinosis.
SY ISH.
SY JHF.
SY Juvenile hyaline fibromatosis.
SY Systemic hyalinosis.
DR MIM; 228600; phenotype.
DR MedGen; C0406578.
DR MedGen; C2745948.
DR MeSH; D057770.
//
ID Hydatidiform mole, recurrent, 1.
AC DI-01758
AR HYDM1.
DE A disorder characterized by excessive trophoblast development that
DE produces a growing mass of tissue inside the uterus at the beginning
DE of a pregnancy. It leads to abnormal pregnancies with no embryo, and
DE cystic degeneration of the chorionic villi.
SY CHM.
SY Complete hydatidiform mole.
SY Gestational trophoblastic disease.
SY Hydatidiform mole.
SY HYDM.
DR MIM; 231090; phenotype.
DR MedGen; C0020217.
DR MedGen; C2931618.
DR MedGen; C3463897.
DR MeSH; D006828.
//
ID Hydatidiform mole, recurrent, 2.
AC DI-03290
AR HYDM2.
DE A disorder characterized by excessive trophoblast development that
DE produces a growing mass of tissue inside the uterus at the beginning
DE of a pregnancy. It leads to abnormal pregnancies with no embryo, and
DE cystic degeneration of the chorionic villi.
SY Hydatidiform mole complete.
DR MIM; 614293; phenotype.
DR MedGen; C0678213.
DR MeSH; D006828.
//
ID Hydatidiform mole, recurrent, 3.
AC DI-05567
AR HYDM3.
DE A disorder characterized by excessive trophoblast development that
DE produces a growing mass of tissue inside the uterus at the beginning
DE of a pregnancy. It leads to abnormal pregnancies with no embryo, and
DE cystic degeneration of the chorionic villi.
DR MIM; 618431; phenotype.
DR MedGen; CN258388.
DR MeSH; D006828.
//
ID Hydatidiform mole, recurrent, 4.
AC DI-05568
AR HYDM4.
DE A disorder characterized by excessive trophoblast development that
DE produces a growing mass of tissue inside the uterus at the beginning
DE of a pregnancy. It leads to abnormal pregnancies with no embryo, and
DE cystic degeneration of the chorionic villi.
DR MIM; 618432; phenotype.
DR MedGen; CN258389.
DR MeSH; D006828.
//
ID Hydrocephalus due to stenosis of the aqueduct of Sylvius.
AC DI-01759
AR HSAS.
DE Hydrocephalus is a condition in which abnormal accumulation of
DE cerebrospinal fluid in the brain causes increased intracranial
DE pressure inside the skull. This is usually due to blockage of
DE cerebrospinal fluid outflow in the brain ventricles or in the
DE subarachnoid space at the base of the brain. In children is typically
DE characterized by enlargement of the head, prominence of the forehead,
DE brain atrophy, mental deterioration, and convulsions. In adults the
DE syndrome includes incontinence, imbalance, and dementia. HSAS is
DE characterized by intellectual disability and enlarged brain
DE ventricles.
DR MIM; 307000; phenotype.
DR MedGen; C0265216.
DR MedGen; C1844006.
//
ID Hydrocephalus, congenital communicating, 1.
AC DI-05706
AR HYDCC1.
DE A form of congenital hydrocephalus, a disease characterized by onset
DE in utero of enlarged ventricles due to accumulation of ventricular
DE cerebrospinal fluid. Affected individuals may have neurologic
DE impairment. HYDCC1 inheritance is autosomal dominant.
DR MIM; 618667; phenotype.
DR MedGen; CN262876.
DR MeSH; D006849.
//
ID Hydrocephalus, congenital, 1.
AC DI-03639
AR HYC1.
DE A form of congenital hydrocephalus, a disease characterized by onset
DE in utero of enlarged ventricles due to accumulation of ventricular
DE cerebrospinal fluid. Affected individuals may have neurologic
DE impairment. HYC1 inheritance is autosomal recessive.
SY Hydrocephalus, non-syndromic, autosomal recessive 1.
SY Hydrocephaly.
SY Ventriculomegaly.
DR MIM; 236600; phenotype.
DR MedGen; C0020255.
DR MeSH; D006849.
//
ID Hydrocephalus, congenital, 2, with or without brain or eye anomalies.
AC DI-03725
AR HYC2.
DE A form of congenital hydrocephalus, a disease characterized by onset
DE in utero of enlarged ventricles due to accumulation of ventricular
DE cerebrospinal fluid. HYC2 affected individuals have variable
DE neurologic impairment. Some individuals have other brain
DE abnormalities, including lissencephaly, thinning of the corpus
DE callosum, and neuronal heterotopia. Most patients have delayed motor
DE development and some have delayed intellectual development and/or
DE seizures. Additional congenital features, including cardiac septal
DE defects, iris coloboma, and non-specific dysmorphic features, may be
DE observed. HYC2 inheritance is autosomal recessive.
SY Hydrocephalus, non-syndromic, autosomal recessive 2.
DR MIM; 615219; phenotype.
DR MedGen; C3554691.
DR MeSH; D006849.
//
ID Hydrocephalus, congenital, 3, with brain anomalies.
AC DI-05285
AR HYC3.
DE A form of congenital hydrocephalus, a disease characterized by onset
DE in utero of enlarged ventricles due to accumulation of ventricular
DE cerebrospinal fluid. HYC3 features include enlarged ventricles,
DE hypoplastic or absent cerebellum, holoprosencephaly and Dandy-Walker
DE malformation. Most patients die in utero or shortly after birth. HYC3
DE inheritance is autosomal recessive.
SY Hydrocephalus, non-syndromic, autosomal recessive 3.
DR MIM; 617967; phenotype.
DR MedGen; CN252328.
DR MeSH; D006849.
//
ID Hydrocephalus, normal pressure, 1.
AC DI-05745
AR HYDNP1.
DE An autosomal dominant neurologic disorder characterized by a slowly
DE progressive gait disorder, urinary incontinence, progressive
DE intellectual decline, and ventricular enlargement on brain imaging.
DE Cerebrospinal fluid pressure tends to be in the high normal range.
DR MIM; 236690; phenotype.
DR MedGen; C0020258.
DR MeSH; D006850.
//
ID Hydrolethalus syndrome 1.
AC DI-01760
AR HLS1.
DE A lethal syndrome characterized by polydactyly, central nervous system
DE malformation, and hydrocephalus. The polydactyly is postaxial in the
DE hands and preaxial in the feet. A highly characteristic hallux duplex
DE is seen in almost no other situation. In half of the cases, a large
DE atrioventricular communis defect of the heart is found. The pregnancy
DE is characterized by hydramnios, which is often massive, and by preterm
DE delivery.
DR MIM; 236680; phenotype.
DR MedGen; C1856016.
DR MeSH; D006228.
DR MeSH; D006849.
KW KW-1186:Ciliopathy.
//
ID Hydrolethalus syndrome 2.
AC DI-03208
AR HLS2.
DE An embryonic lethal disorder characterized by hydrocephaly or
DE anencephaly, postaxial polydactyly of the upper limbs, and pre- or
DE postaxial polydactyly of the lower limbs. Duplication of the hallux is
DE a common finding.
DR MIM; 614120; phenotype.
DR MedGen; C3279899.
DR MedGen; CN077931.
DR MeSH; D006228.
DR MeSH; D006849.
KW KW-1186:Ciliopathy.
//
ID Hydrops, lactic acidosis, and sideroblastic anemia.
AC DI-04765
AR HLASA.
DE A lethal, multisystem metabolic disorder characterized by severe
DE lactic acidosis, hydrops, and sideroblastic anemia. Additional
DE features include impaired cardiac function, disordered coagulation,
DE pulmonary hypertension, and progressive renal disease.
DR MIM; 617021; phenotype.
DR MedGen; CN237417.
DR MeSH; D000756.
DR MeSH; D004487.
DR MeSH; D008659.
//
ID Hydroxykynureninuria.
AC DI-04276
AR HYXKY.
DE An inborn error of amino acid metabolism characterized by massive
DE urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine
DE and xanthurenic acid. Affected individuals manifest renal tubular
DE dysfunction, metabolic acidosis, psychomotor retardation, non-
DE progressive encephalopathy, and muscular hypertonia.
SY Partial kynureninase deficiency.
SY Xanthurenic aciduria.
DR MIM; 236800; phenotype.
DR MedGen; C0268474.
DR MeSH; D000592.
//
ID Hyper-IgE recurrent infection syndrome 1, autosomal dominant.
AC DI-01767
AR HIES1.
DE A rare disorder of immunity and connective tissue characterized by
DE immunodeficiency, chronic eosinophilia, distinctive coarse facial
DE appearance, abnormal dentition, hyperextensibility of the joints, and
DE bone fractures.
SY Buckley syndrome.
SY HIES autosomal dominant.
SY Hyper-IgE recurrent infection syndrome autosomal dominant.
SY Hyper-IgE syndrome autosomal dominant.
SY Hyperimmunoglobulin E syndrome type 1.
SY Job syndrome.
DR MIM; 147060; phenotype.
DR MedGen; C0022398.
DR MedGen; C2936739.
DR MedGen; C3489795.
DR MeSH; D007589.
//
ID Hyper-IgE recurrent infection syndrome 2, autosomal recessive.
AC DI-02809
AR HIES2.
DE A rare disorder characterized by immunodeficiency, recurrent
DE infections, eczema, increased serum IgE, eosinophilia and lack of
DE connective tissue and skeletal involvement.
SY HIES autosomal recessive.
SY Hyper-IgE recurrent infection syndrome autosomal recessive.
SY Hyper-IgE syndrome autosomal recessive.
SY Hyperimmunoglobulin E syndrome type 2.
SY Nonskeletal hyper IgE syndrome.
DR MIM; 243700; phenotype.
DR MedGen; C1968689.
DR MeSH; D007589.
//
ID Hyper-IgE recurrent infection syndrome 3, autosomal recessive.
AC DI-05462
AR HIES3.
DE An immunologic disorder characterized by skin bacterial infections in
DE particular with Staphylococcus aureus, susceptibility to fungal
DE infections such as chronic mucocutaneous candidiasis, atopic
DE dermatitis, recurrent respiratory infections, bronchiectasis, and
DE increased serum IgE and IgG. Immunologic work-up shows impaired
DE differentiation of CD4+ T cells into T-helper 17 cells, decreased
DE memory B cells, and often decreased NK cells. Some patients manifest
DE extrahemapoietic features, including facial dysmorphism, abnormal
DE dentition, alopecia, joint hypermobility and bone fractures. Disease
DE onset is in early childhood.
DR MIM; 618282; phenotype.
DR MedGen; CN258118.
DR MeSH; D007589.
//
ID Hyper-IgE recurrent infection syndrome 4, autosomal recessive.
AC DI-05628
AR HIES4.
DE An immunologic disorder characterized by recurrent infections, mainly
DE affecting the respiratory tract, skin and eye, and skeletal
DE abnormalities including craniosynostosis and scoliosis. Immunologic
DE workup shows increased serum IgE, intermittent eosinophilia, impaired
DE development of certain B- and T-cell populations, as well as impaired
DE acute-phase response. Disease onset is in early childhood.
DR MIM; 618523; phenotype.
DR MedGen; CN262171.
DR MeSH; D007589.
//
ID Hyper-IgE recurrent infection syndrome 4A, autosomal dominant.
AC DI-06348
AR HIES4A.
DE An immunologic disorder characterized by recurrent mainly sino-
DE pulmonary infections associated with increased serum IgE. Some
DE patients have onset of symptoms in early childhood and develop
DE complications, including bronchiectasis or hemoptysis, whereas others
DE have later onset of less severe infections. Immunologic workup usually
DE shows normal leukocyte levels, although some patients may demonstrate
DE alterations in lymphocyte subsets, including T cells. Affected
DE individuals also have variable skeletal abnormalities, including high-
DE arched palate, hyperextensible joints, scoliosis, and bone fractures.
DR MIM; 619752; phenotype.
DR MedGen; CN306775.
DR MeSH; D007589.
//
ID Hyper-IgE recurrent infection syndrome 5, autosomal recessive.
AC DI-05873
AR HIES5.
DE An immunologic disorder characterized by recurrent sinopulmonary and
DE deep skin infections, mostly caused by bacteria, including H.
DE influenza and Staphylococcus aureus. Additional features include
DE asthma, atopic dermatitis, and impaired inflammatory responses during
DE infection. Disease onset is in early infancy.
DR MIM; 618944; phenotype.
DR MedGen; CN283281.
DR MeSH; D007589.
//
ID Hyperaldosteronism, familial, 1.
AC DI-02693
AR HALD1.
DE A disorder characterized by hypertension, variable hyperaldosteronism,
DE and abnormal adrenal steroid production, including 18-oxocortisol and
DE 18-hydroxycortisol. There is significant phenotypic heterogeneity, and
DE some individuals never develop hypertension.
SY ACTH-dependent hyperaldosteronism syndrome.
SY Aldosteronism sensitive to dexamethasone.
SY Dexamethasone sensitive hypertension.
SY Familial hyperaldosteronism 1.
SY Familial hyperaldosteronism type I.
SY FH1.
SY FH I.
SY FH type 1.
SY Glucocorticoid-remediable aldosteronism.
SY Glucocorticoid sensitive hypertension.
SY Glucocorticoid-suppressible hyperaldosteronism.
SY GRA.
SY GSH.
DR MIM; 103900; phenotype.
DR MedGen; C1260386.
DR MeSH; D006929.
//
ID Hyperaldosteronism, familial, 2.
AC DI-05322
AR HALD2.
DE An autosomal dominant disorder characterized by elevated plasma
DE aldosterone level and hypertension of varying severity even within
DE members of the same family. Hypokalemia is observed in some patients.
DE In HALD2, hypertension does not improve with glucocorticoid treatment.
SY FH II.
SY FH-II.
SY Hyperaldosteronism, familial, type II.
DR MIM; 605635; phenotype.
DR MedGen; C1854107.
DR MeSH; D006929.
//
ID Hyperaldosteronism, familial, 3.
AC DI-03198
AR HALD3.
DE A form of hyperaldosteronism characterized by hypertension secondary
DE to massive adrenal mineralocorticoid production. HALD3 patients
DE present with childhood hypertension, elevated aldosteronism levels,
DE and high levels of the hybrid steroids 18-oxocortisol and 18-
DE hydroxycortisol. Hypertension and aldosteronism are not reversed by
DE administration of exogenous glucocorticoids and patients require
DE adrenalectomy to control hypertension.
SY Familial hyperaldosteronism 3.
SY Familial hyperaldosteronism type III.
SY FH3.
SY FH III.
SY FH type III.
DR MIM; 613677; phenotype.
DR MedGen; C3150933.
DR MeSH; D006929.
//
ID Hyperaldosteronism, familial, 4.
AC DI-04759
AR HALD4.
DE A form of familial hyperaldosteronism, a disorder characterized by
DE hypertension, elevated aldosterone levels despite low plasma renin
DE activity, and abnormal adrenal steroid production. There is
DE significant phenotypic heterogeneity, and some individuals never
DE develop hypertension.
SY FH IV.
SY Hyperaldosteronism, familial, type IV.
SY Primary aldosteronism and hypertension.
DR MIM; 617027; phenotype.
DR MedGen; CN237392.
DR MeSH; D006929.
//
ID Hyperalphalipoproteinemia 1.
AC DI-01764
AR HALP1.
DE A condition characterized by high levels of high density lipoprotein
DE (HDL) and increased HDL cholesterol levels.
SY CETP deficiency.
SY Cholesteryl ester transfer protein deficiency.
DR MIM; 143470; phenotype.
DR MedGen; C0342883.
DR MedGen; C3149462.
DR MedGen; C3149463.
DR MeSH; D006951.
//
ID Hyperalphalipoproteinemia 2.
AC DI-03115
AR HALP2.
DE A condition characterized by high levels of high density lipoprotein
DE (HDL) and increased HDL cholesterol levels.
SY Apolipoprotein C-III deficiency.
DR MIM; 614028; phenotype.
DR MedGen; C3151467.
DR MeSH; D006951.
//
ID Hyperammonemia due to carbonic anhydrase VA deficiency.
AC DI-04105
AR CA5AD.
DE An autosomal recessive inborn error of metabolism, clinically
DE characterized by infantile hyperammonemic encephalopathy. Metabolic
DE abnormalities include hypoglycemia, hyperlactatemia, metabolic
DE acidosis and respiratory alkalosis.
DR MIM; 615751; phenotype.
DR MedGen; C3810404.
DR MedGen; CN186198.
DR MeSH; D022124.
//
ID Hyperbilirubinemia, Rotor type.
AC DI-03360
AR HBLRR.
DE An autosomal recessive form of primary conjugated hyperbilirubinemia.
DE Affected individuals develop mild jaundice not associated with
DE hemolysis shortly after birth or in childhood. They have delayed
DE plasma clearance of the unconjugated anionic dye bromsulphthalein and
DE prominent urinary excretion of coproporphyrin I. Hepatic pigmentation
DE is normal.
SY Rotor syndrome.
DR MIM; 237450; phenotype.
DR MedGen; C0220991.
DR MeSH; D006932.
//
ID Hyperbiliverdinemia.
AC DI-03209
AR HBLVD.
DE A condition characterized by a green discoloration of the skin, urine,
DE serum, and other bodily fluids. It is due to increased biliverdin
DE resulting from inefficient conversion to bilirubin. Affected
DE individuals appear to have symptoms only in the context of obstructive
DE cholestasis and/or liver failure. In some cases, green jaundice can
DE resolve after resolution of obstructive cholestasis.
SY Green jaundice.
DR MIM; 614156; phenotype.
DR MedGen; C3279964.
DR MeSH; D002779.
//
ID Hypercalcemia, infantile, 1.
AC DI-03214
AR HCINF1.
DE A disorder characterized by abnormally high level of calcium in the
DE blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis.
SY Hypercalcemia infantile.
SY Idiopathic hypercalcemia of infancy.
DR MIM; 143880; phenotype.
DR MedGen; C0268080.
DR MeSH; D006934.
//
ID Hypercalcemia, infantile, 2.
AC DI-04726
AR HCINF2.
DE An autosomal recessive form of hypercalcemia, a disorder characterized
DE by abnormally high level of calcium in the blood, failure to thrive,
DE vomiting, dehydration, and nephrocalcinosis.
DR MIM; 616963; phenotype.
DR MedGen; CN236717.
DR MeSH; D006934.
//
ID Hypercalciuria absorptive 2.
AC DI-02646
AR HCA2.
DE A common type of hypercalciuria, a condition characterized by
DE excessive urinary calcium excretion. Absorptive hypercalciuria is due
DE to gastrointestinal hyperabsorption of calcium and is a frequent cause
DE of calcium oxalate nephrolithiasis.
SY Hypercalciuria familial idiopathic.
DR MIM; 143870; phenotype.
DR MedGen; C0342639.
DR MeSH; D053565.
//
ID Hypercarotenemia and vitamin A deficiency, autosomal dominant.
AC DI-01210
AR HCVAD.
DE A disorder characterized by increased serum beta-carotene, decreased
DE conversion of beta-carotene to vitamin A and decreased serum vitamin
DE A.
SY Hypercarotenemia and hypovitaminosis A.
DR MIM; 115300; phenotype.
DR MedGen; C2676023.
DR MedGen; C2676024.
DR MeSH; D014802.
//
ID Hyperchlorhidrosis, isolated.
AC DI-03013
AR HYCHL.
DE An autosomal recessive disorder characterized by excessive sweating
DE and increased sweat chloride levels. Affected individuals suffer from
DE episodes of hyponatremic dehydration and report increased amounts of
DE visible salt precipitates in sweat.
DR MIM; 143860; phenotype.
DR MedGen; C1840437.
DR MeSH; D006945.
//
ID Hypercholanemia, familial, 1.
AC DI-00492
AR FHCA1.
DE A disorder characterized by elevated serum bile acid concentrations,
DE itching, and fat malabsorption.
SY Bile acid, elevated serum.
DR MIM; 607748; phenotype.
DR MedGen; C1843139.
DR MeSH; D008286.
//
ID Hypercholanemia, familial, 2.
AC DI-06067
AR FHCA2.
DE An autosomal recessive inborn error of metabolism characterized by
DE persistently increased plasma levels of conjugated bile salts apparent
DE from infancy, fat malabsorption and impaired absorption of fat-soluble
DE vitamins, including D and K. Most patients are asymptomatic. Some
DE neonates may have transient jaundice or transiently elevated liver
DE enzymes.
SY NTCPD.
SY NTCP deficiency.
DR MIM; 619256; phenotype.
DR MedGen; CN296310.
DR MeSH; D008286.
DR MeSH; D043202.
//
ID Hypercholesterolemia, familial, 1.
AC DI-01577
AR FHCL1.
DE A form of hypercholesterolemia, a disorder of lipoprotein metabolism
DE characterized by elevated serum low-density lipoprotein (LDL)
DE cholesterol levels, which result in excess deposition of cholesterol
DE in tissues and leads to xanthelasma, xanthomas, accelerated
DE atherosclerosis and increased risk of premature coronary heart
DE disease. FHCL1 inheritance is autosomal dominant.
SY FH.
SY FHC.
SY Hypercholesterolemic xanthomatosis, familial.
SY Hyperlipoproteinemia, type II.
SY Hyperlipoproteinemia, type IIA.
SY Hyper-low-density-lipoproteinemia.
SY LDL receptor disorder.
DR MIM; 143890; phenotype.
DR MedGen; C0020445.
DR MedGen; C0745103.
DR MedGen; C3276941.
DR MeSH; D006938.
//
ID Hypercholesterolemia, familial, 2.
AC DI-01591
AR FHCL2.
DE A form of hypercholesterolemia, a disorder of lipoprotein metabolism
DE characterized by elevated serum low-density lipoprotein (LDL)
DE cholesterol levels, which result in excess deposition of cholesterol
DE in tissues and leads to xanthelasma, xanthomas, accelerated
DE atherosclerosis and increased risk of premature coronary heart
DE disease. FHCL2 inheritance is autosomal dominant.
SY Familial ligand-defective apolipoprotein B-100.
SY FDB.
DR MIM; 144010; phenotype.
DR MedGen; C1704417.
DR MedGen; C2931106.
DR MeSH; D006938.
//
ID Hypercholesterolemia, familial, 3.
AC DI-01578
AR FHCL3.
DE A form of hypercholesterolemia, a disorder of lipoprotein metabolism
DE characterized by elevated serum low-density lipoprotein (LDL)
DE cholesterol levels, which result in excess deposition of cholesterol
DE in tissues and leads to xanthelasma, xanthomas, accelerated
DE atherosclerosis and increased risk of premature coronary heart
DE disease. FHCL3 inheritance is autosomal dominant.
SY HCHOLA3.
SY Hypercholesterolemia, autosomal dominant, 3.
DR MIM; 603776; phenotype.
DR MedGen; C1863551.
DR MedGen; C3276239.
DR MeSH; D006937.
//
ID Hypercholesterolemia, familial, 4.
AC DI-01242
AR FHCL4.
DE A form of hypercholesterolemia, a disorder of lipoprotein metabolism
DE characterized by elevated serum low-density lipoprotein (LDL)
DE cholesterol levels, which result in excess deposition of cholesterol
DE in tissues and leads to xanthelasma, xanthomas, accelerated
DE atherosclerosis and increased risk of premature coronary heart
DE disease. FHCL4 inheritance is autosomal recessive.
SY ARH.
SY ARH1.
SY ARH2.
SY Autosomal recessive hypercholesterolemia 1.
SY Autosomal recessive hypercholesterolemia 2.
SY FHCB1.
SY FHCB2.
SY Hypercholesterolemia, autosomal recessive.
DR MIM; 603813; phenotype.
DR MedGen; C1863512.
DR MeSH; D006937.
//
ID HyperCKmia.
AC DI-01766
AR HYPCK.
DE Characterized by persistent elevated levels of serum creatine kinase
DE without muscle weakness.
DR MIM; 123320; phenotype.
DR MedGen; C0241005.
//
ID Hyperekplexia 1.
AC DI-01087
AR HKPX1.
DE A neurologic disorder characterized by muscular rigidity of central
DE nervous system origin, particularly in the neonatal period, and by an
DE exaggerated startle response to unexpected acoustic or tactile
DE stimuli.
SY Congenital stiff-man syndrome.
SY Congenital stiff-person syndrome.
SY Exaggerated startle reaction.
SY Familial startle disease.
SY Hereditary hyperexplexia 1.
SY Hyperekplexia hereditary 1 autosomal dominant or recessive.
SY Kok disease.
SY STHE.
SY Stiff-baby syndrome.
DR MIM; 149400; phenotype.
DR MedGen; C1835614.
DR MeSH; D000071017.
//
ID Hyperekplexia 2.
AC DI-03457
AR HKPX2.
DE A neurologic disorder characterized by muscular rigidity of central
DE nervous system origin, particularly in the neonatal period, and by an
DE exaggerated startle response to unexpected acoustic or tactile
DE stimuli.
SY Autosomal recessive hyperekplexia 2.
DR MIM; 614619; phenotype.
DR MedGen; C3553291.
DR MeSH; D000071017.
//
ID Hyperekplexia 3.
AC DI-03456
AR HKPX3.
DE A neurologic disorder characterized by neonatal hypertonia, an
DE exaggerated startle response to tactile or acoustic stimuli, and life-
DE threatening neonatal apnea episodes. Notably, in some cases, symptoms
DE resolved in the first year of life.
DR MIM; 614618; phenotype.
DR MedGen; C3553288.
DR MedGen; CN124884.
DR MeSH; D000071017.
//
ID Hyperekplexia 4.
AC DI-05272
AR HKPX4.
DE An autosomal recessive severe neurologic disorder apparent from birth.
DE HKPX4 is characterized by little if any development, hypertonia,
DE early-onset refractory seizures in some patients, and respiratory
DE failure resulting in early death, mostly in the first months of life.
DR MIM; 618011; phenotype.
DR MedGen; CN248518.
DR MeSH; D000071017.
//
ID Hyperferritinemia with or without cataract.
AC DI-01718
AR HRFTC.
DE An autosomal dominant disease characterized by elevated level of
DE ferritin in serum and tissues, and early-onset bilateral cataract.
DE Cataracts may be subclinical in some patients.
SY HHCS.
SY Hyperferritinemia, hereditary, with congenital cataracts.
SY Hyperferritinemia-cataract syndrome.
DR MIM; 600886; phenotype.
DR MedGen; C1833213.
DR MeSH; D002386.
DR MeSH; D019189.
KW KW-0898:Cataract.
//
ID Hyperglycinemia, lactic acidosis, and seizures.
AC DI-03379
AR HGCLAS.
DE An enzymatic defect resulting in an autosomal recessive disorder of
DE mitochondrial metabolism. It is characterized by early-onset lactic
DE acidosis, severe encephalomyopathy, and a pyruvate oxidation defect.
DE Affected individuals have neonatal-onset epilepsy, poor growth,
DE psychomotor retardation, muscular hypotonia, lactic acidosis, and
DE elevated glycine concentration in plasma and urine.
SY PDHLD.
SY Pyruvate dehydrogenase lipoic acid synthetase deficiency.
DR MIM; 614462; phenotype.
DR MedGen; C3280887.
DR MeSH; D008661.
//
ID Hyperglycinuria.
AC DI-02939
AR HG.
DE A condition characterized by excess of glycine in the urine. In some
DE cases it is associated with renal colic and renal oxalate stones.
SY Glycinuria with or without oxalate nephrolithiasis.
SY Glycinuria with or without oxalate urolithiasis.
SY Iminoglycinuria type II.
DR MIM; 138500; phenotype.
DR MedGen; C0543541.
DR MeSH; D000608.
//
ID Hyperimmunoglobulinemia D and periodic fever syndrome.
AC DI-01768
AR HIDS.
DE Autosomal recessive disease characterized by recurrent episodes of
DE unexplained high fever associated with skin rash, diarrhea, adenopathy
DE (swollen, tender lymph nodes), arthralgias and/or arthritis.
DE Concentration of IgD, and often IgA, are above normal.
DR MIM; 260920; phenotype.
DR MedGen; C0398691.
//
ID Hyperlipidemia, familial combined, 1.
AC DI-02816
AR FCHL1.
DE A disorder characterized by a variable pattern of elevated levels of
DE serum total cholesterol, triglycerides or both. It is observed in a
DE percentage of individuals with premature coronary heart disease.
SY Familial combined hyperlipidemia type 1.
SY Hyperlipidemia combined, 1.
SY HYPLIP1.
DR MIM; 602491; phenotype.
DR MedGen; C1865289.
DR MeSH; D006950.
//
ID Hyperlipidemia, familial combined, 3.
AC DI-05232
AR FCHL3.
DE A disorder characterized by a variable pattern of elevated levels of
DE serum total cholesterol, triglycerides or both. It is observed in a
DE percentage of individuals with premature coronary heart disease. FCHL3
DE inheritance is autosomal dominant.
SY Familial combined hyperlipidemia.
DR MIM; 144250; phenotype.
DR MedGen; C0020474.
DR MeSH; D006950.
//
ID Hyperlipoproteinemia 1.
AC DI-01911
AR HLPP1.
DE An autosomal recessive metabolic disorder characterized by defective
DE breakdown of dietary fats, impaired clearance of chylomicrons from
DE plasma causing the plasma to have a milky appearance, and severe
DE hypertriglyceridemia. On a normal diet, patients often present with
DE abdominal pain, hepatosplenomegaly, lipemia retinalis, eruptive
DE xanthomata, and massive hypertriglyceridemia, sometimes complicated
DE with acute pancreatitis.
SY Chylomicronemia, familial.
SY Hyperchylomicronemia, familial.
SY Hyperlipemia, essential familial.
SY Hyperlipemia, idiopathic, Burger-Grutz type.
SY Hyperlipoproteinemia, type IA.
SY Lipase D deficiency.
SY LIPD deficiency.
SY Lipoprotein lipase deficiency.
SY LPL deficiency.
DR MIM; 238600; phenotype.
DR MedGen; C0023817.
DR MedGen; C1706413.
DR MeSH; D006951.
//
ID Hyperlipoproteinemia 1B.
AC DI-01770
AR HLPP1B.
DE Autosomal recessive trait characterized by hypertriglyceridemia,
DE xanthomas, and increased risk of pancreatitis and early
DE atherosclerosis.
SY APOC2 deficiency.
SY Hyperlipoproteinemia type IB.
DR MIM; 207750; phenotype.
DR MedGen; C1720779.
//
ID Hyperlipoproteinemia 1D.
AC DI-04193
AR HLPP1D.
DE An autosomal recessive disorder characterized by hyperlipoproteinemia,
DE decreased plasma LPL levels in some patients, high plasma triglyceride
DE levels, and refractory fasting chylomicronemia.
SY Hyperlipoproteinemia, type ID.
DR MIM; 615947; phenotype.
DR MedGen; CN207817.
DR MeSH; D008072.
//
ID Hyperlipoproteinemia 3.
AC DI-01771
AR HLPP3.
DE A disorder characterized by the accumulation of intermediate-density
DE lipoprotein particles (IDL or broad-beta-lipoprotein) rich in
DE cholesterol. Clinical features include xanthomas, yellowish lipid
DE deposits in the palmar crease, or less specific on tendons and on
DE elbows. The disorder rarely manifests before the third decade in men.
DE In women, it is usually expressed only after the menopause.
SY Broad beta disease.
SY Broad-betalipoproteinemia.
SY Deficiency or defect of apolipoprotein E.
SY Dysbetalipoproteinemia due to defect in apolipoprotein E.
SY Familial dysbetalipoproteinemia.
SY Familial hyperbeta- and prebetalipoproteinemia.
SY Familial hypercholesterolemia with hyperlipemia.
SY Floating-betalipoproteinemia.
SY Hyperlipemia with familial hypercholesterolemic xanthomatosis.
SY Hyperlipoproteinemia type III.
DR MIM; 617347; phenotype.
DR MedGen; C0020479.
DR MeSH; D006952.
//
ID Hyperlipoproteinemia 5.
AC DI-01772
AR HLPP5.
DE Characterized by increased amounts of chylomicrons and very low
DE density lipoprotein (VLDL) and decreased low density lipoprotein (LDL)
DE and high density lipoprotein (HDL) in the plasma after a fast.
DE Numerous conditions cause this phenotype, including insulin-dependent
DE diabetes mellitus, contraceptive steroids, alcohol abuse, and glycogen
DE storage disease type 1A (GSD1A).
SY Hyperlipoproteinemia type V.
DR MIM; 144650; phenotype.
DR MedGen; C0020481.
DR MedGen; C3489395.
//
ID Hyperlysinemia, 1.
AC DI-01773
AR HYPLYS1.
DE An autosomal recessive metabolic condition with variable clinical
DE features. Some patients present with non-specific seizures, hypotonia,
DE or mildly delayed psychomotor development, and increased serum lysine
DE and pipecolic acid on laboratory analysis. However, about half of the
DE probands are reported to be asymptomatic, and hyperlysinemia is
DE generally considered to be a benign metabolic variant.
SY Alpha-aminoadipic semialdehyde synthase deficiency.
SY Hyperlysinemia type I.
SY L-lysine:NAD-oxido-reductase deficiency.
SY Lysine:alpha-ketoglutarate reductase deficiency.
SY Lysine intolerance.
DR MIM; 238700; phenotype.
DR MedGen; C0268553.
DR MedGen; C1282843.
DR MeSH; D020167.
//
ID Hypermanganesemia with dystonia 1.
AC DI-04212
AR HMNDYT1.
DE A metabolic autosomal recessive disorder characterized by dystonia,
DE parkinsonism, extrapyramidal signs, severe hypermanganesemia,
DE polycythemia, and chronic hepatic disease, including steatosis and
DE cirrhosis.
SY HMDPC.
SY Hypermanganesemia with dystonia, polycythemia, and cirrhosis.
DR MIM; 613280; phenotype.
DR MedGen; C2750442.
DR MeSH; D008659.
KW KW-0523:Neurodegeneration.
KW KW-0908:Parkinsonism.
KW KW-1023:Dystonia.
//
ID Hypermanganesemia with dystonia 2.
AC DI-04753
AR HMNDYT2.
DE A metabolic autosomal recessive disorder characterized by increased
DE blood manganese levels, neurodegeneration, and rapidly progressive
DE parkinsonism and dystonia. Affected individuals present with loss of
DE developmental milestones, progressive dystonia and bulbar dysfunction
DE in infancy or early childhood. Towards the end of the first decade,
DE they manifest severe generalized pharmacoresistant dystonia,
DE spasticity, limb contractures and scoliosis, and loss of independent
DE ambulation. Cognition may be impaired, but is better preserved than
DE motor function.
DR MIM; 617013; phenotype.
DR MedGen; CN237172.
DR MeSH; D008659.
KW KW-0523:Neurodegeneration.
KW KW-0908:Parkinsonism.
KW KW-1023:Dystonia.
//
ID Hypermethioninemia due to adenosine kinase deficiency.
AC DI-03295
AR HMAKD.
DE A metabolic disorder characterized by global developmental delay,
DE early-onset seizures, mild dysmorphic features, and characteristic
DE biochemical anomalies, including persistent hypermethioninemia with
DE increased levels of S-adenosylmethionine and S-adenosylhomocysteine.
DE Homocysteine levels are typically normal.
SY MRT8.
DR MIM; 614300; phenotype.
DR MedGen; C3280381.
DR MeSH; D000592.
//
ID Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency.
AC DI-01774
AR HMAHCHD.
DE A metabolic disorder characterized by hypermethioninemia associated
DE with failure to thrive, mental and motor retardation, facial
DE dysmorphism with abnormal hair and teeth, and myocardiopathy.
DR MIM; 613752; phenotype.
DR MedGen; C3151058.
DR MeSH; D000592.
//
ID Hyperornithinemia with gyrate atrophy of choroid and retina.
AC DI-01775
AR HOGA.
DE A disorder clinically characterized by a triad of progressive
DE chorioretinal degeneration, early cataract formation, and type II
DE muscle fiber atrophy. Characteristic chorioretinal atrophy with
DE progressive constriction of the visual fields leads to blindness at
DE the latest during the sixth decade of life. Patients generally have
DE normal intelligence.
SY GACR.
SY Gyrate atrophy.
SY Gyrate atrophy of choroid and retina.
SY OAT deficiency.
SY OKT deficiency.
SY Ornithine aminotransferase deficiency.
SY Ornithine-delta-aminotransferase deficiency.
SY Ornithine keto acid aminotransferase deficiency.
DR MIM; 258870; phenotype.
DR MedGen; C0599035.
DR MeSH; D015799.
//
ID Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
AC DI-01776
AR HHHS.
DE An autosomal recessive disorder of the urea cycle characterized by
DE onset in early life. The acute phase of the disease is characterized
DE by vomiting, ataxia, lethargy, confusion, and coma. Chronic clinical
DE manifestations include hypotonia, developmental delay, progressive
DE encephalopathy with mental regression, and spastic paraparesis with
DE pyramidal signs.
SY HHH syndrome.
SY Ornithine translocase deficiency.
DR MIM; 238970; phenotype.
DR MedGen; C0268540.
DR MeSH; D056806.
//
ID Hyperostosis cranialis interna.
AC DI-05257
AR HCIN.
DE An autosomal dominant bone disorder characterized by endosteal
DE hyperostosis and osteosclerosis of the calvaria and the skull base.
DE The progressive bone overgrowth causes entrapment and dysfunction of
DE cranial nerves I, II, V, VII, and VIII, its first symptoms often
DE presenting during the second decade of life.
DR MIM; 144755; phenotype.
DR MedGen; C1840404.
DR MeSH; D015576.
//
ID Hyperoxaluria primary 1.
AC DI-01778
AR HP1.
DE An inborn error of glyoxylate metabolism characterized by increased
DE excretion of oxalate and glycolate, and progressive tissue
DE accumulation of insoluble calcium oxalate. Affected individuals are at
DE risk for nephrolithiasis, nephrocalcinosis and early onset end-stage
DE renal disease.
SY Alanine-glyoxylate aminotransferase deficiency.
SY Glycolic aciduria.
SY Hepatic AGT deficiency.
SY Hyperoxaluria primary type I.
SY Oxalosis I.
SY Peroxisomal alanine glyoxylate aminotransferase deficiency.
SY PH1.
SY Primary hyperoxaluria type I.
SY Serine pyruvate aminotransferase deficiency.
DR MIM; 259900; phenotype.
DR MedGen; C0268164.
DR MeSH; D006960.
//
ID Hyperoxaluria primary 2.
AC DI-01779
AR HP2.
DE A disorder characterized by elevated urinary excretion of oxalate and
DE L-glycerate, progressive tissue accumulation of insoluble calcium
DE oxalate, nephrolithiasis, nephrocalcinosis, and end-stage renal
DE disease.
SY D-glycerate dehydrogenase deficiency.
SY Glyceric aciduria.
SY Glyoxylate reductase/hydroxypyruvate reductase deficiency.
SY Hyperoxaluria primary type II.
SY L-glyceric aciduria.
SY Oxalosis II.
SY PH2.
SY Primary hyperoxaluria type II.
DR MIM; 260000; phenotype.
DR MedGen; C0268165.
DR MeSH; D006960.
//
ID Hyperoxaluria primary 3.
AC DI-02917
AR HP3.
DE A disorder phenotypically similar to hyperoxaluria type 1 and type 2.
DE It is characterized by increase in urinary oxalate excretion and mild
DE glycolic aciduria. Clinical manifestations include calcium oxalate
DE urolithiasis, hematuria, pain, and/or urinary tract infection.
SY Hyperoxaluria non-HP1/non-HP2.
SY Hyperoxaluria non-PH I/PH II form.
SY Hyperoxaluria primary type III.
DR MIM; 613616; phenotype.
DR MedGen; C3150878.
DR MeSH; D006960.
//
ID Hyperparathyroidism 1.
AC DI-01589
AR HRPT1.
DE An autosomal dominant disorder characterized by hypercalcemia,
DE elevated parathyroid hormone (PTH) levels, and uniglandular or
DE multiglandular parathyroid hyperplasia, adenomas, and carcinomas.
SY Familial isolated hyperparathyroidism.
SY FIHP.
SY Hyperparathyroidism, familial, isolated, primary.
DR MIM; 145000; phenotype.
DR MedGen; C1840402.
DR MeSH; D049950.
//
ID Hyperparathyroidism 2 with jaw tumors.
AC DI-01780
AR HRPT2.
DE An autosomal dominant neoplasia syndrome characterized by primary
DE hyperparathyroidism, ossifying fibroma of the maxilla and/or mandible,
DE renal tumor, and uterine tumors. It is associated with increased risk
DE of parathyroid cancer.
SY Familial primary hyperparathyroidism with multiple ossifying jaw fibromas.
SY HPT-JT.
SY Hyperparathyroidism-jaw tumor syndrome.
DR MIM; 145001; phenotype.
DR MedGen; C1704981.
DR MeSH; D049950.
//
ID Hyperparathyroidism 4.
AC DI-04951
AR HRPT4.
DE A form of familial primary hyperparathyroidism, a hypercalcemic
DE disorder caused by inappropriate oversecretion of parathyroid hormone
DE due to parathyroid hyperplasia or neoplasms. Clinical features include
DE hypercalcemia, phosphaturia, and increased bone resorption. HRPT4
DE inheritance is autosomal dominant.
DR MIM; 617343; phenotype.
DR MedGen; CN240514.
DR MeSH; D049950.
//
ID Hyperparathyroidism, neonatal severe.
AC DI-02039
AR NSHPT.
DE A disorder characterized by severe hypercalcemia, bone
DE demineralization, and failure to thrive usually manifesting in the
DE first 6 months of life. If untreated, NSHPT can be a devastating
DE neurodevelopmental disorder, which in some cases is lethal without
DE parathyroidectomy.
SY Neonatal severe primary hyperparathyroidism.
SY NHPT.
SY NSPH.
DR MIM; 239200; phenotype.
DR MedGen; C1832645.
DR MeSH; D049950.
//
ID Hyperparathyroidism, transient neonatal.
AC DI-05388
AR HRPTTN.
DE An autosomal recessive disease characterized by impaired
DE transplacental maternal-fetal transport of calcium, high serum PTH
DE levels and signs of metabolic bone disease in the neonatal period.
DE Skeletal anomalies include generalized osteopenia, narrow chest, short
DE ribs with multiple healing fractures, and bowing or fractures of long
DE bones. Affected individuals experience postnatal respiratory and
DE feeding difficulties. The condition improves within a short time after
DE birth once calcium is provided orally.
DR MIM; 618188; phenotype.
DR MedGen; CN257787.
DR MeSH; D006961.
//
ID Hyperphenylalaninemia.
AC DI-01781
AR HPA.
DE Mildest form of phenylalanine hydroxylase deficiency.
DR MIM; 261600; phenotype.
DR MedGen; C2678416.
//
ID Hyperphenylalaninemia, BH4-deficient, A.
AC DI-01277
AR HPABH4A.
DE An autosomal recessive disorder characterized by
DE hyperphenylalaninemia, depletion of the neurotransmitters dopamine and
DE serotonin, and progressive cognitive and motor deficits. Neurological
DE symptoms are unresponsive to the classic phenylalanine-low diet.
SY 6-pyruvoyl-tetrahydropterin synthase deficiency.
SY Hyperphenylalaninemia tetrahydrobiopterin-deficient due to PTS deficiency.
SY PTPSD.
SY PTSD.
SY PTS deficiency.
DR MIM; 261640; phenotype.
DR MedGen; C0878676.
DR MedGen; C2678415.
DR MedGen; CN068421.
DR MeSH; D010661.
//
ID Hyperphenylalaninemia, BH4-deficient, B.
AC DI-00538
AR HPABH4B.
DE A disease characterized by malignant hyperphenylalaninemia due to
DE tetrahydrobiopterin deficiency, and defective neurotransmission due to
DE depletion of the neurotransmitters dopamine and serotonin. The
DE principal symptoms include: psychomotor retardation, tonicity
DE disorders, convulsions, drowsiness, irritability, abnormal movements,
DE hyperthermia, hypersalivation, and difficulty swallowing. Some
DE patients may present a phenotype of intermediate severity between
DE severe hyperphenylalaninemia and mild dystonia. In this intermediate
DE phenotype, there is marked motor delay, but no intellectual disability
DE and only minimal, if any, hyperphenylalaninemia.
SY Atypical severe phenylketonuria due to GTP cyclohydrolase I deficiency.
SY GCH1 deficiency.
SY Guanosine triphosphate cyclohydrolase I deficiency.
SY Hyperphenylalaninemia with neopterin deficiency.
DR MIM; 233910; phenotype.
DR MedGen; C0268467.
DR MeSH; D010661.
//
ID Hyperphenylalaninemia, BH4-deficient, C.
AC DI-01278
AR HPABH4C.
DE Rare autosomal recessive disorder characterized by
DE hyperphenylalaninemia and severe neurologic symptoms (malignant
DE hyperphenylalaninemia) including axial hypotonia and truncal
DE hypertonia, abnormal thermogenesis, and microcephaly. These signs are
DE attributable to depletion of the neurotransmitters dopamine and
DE serotonin, whose syntheses are controlled by tryptophan and tyrosine
DE hydroxylases that use BH-4 as cofactor. Patients do not respond to
DE phenylalanine-restricted diet. HPABH4C is lethal if untreated.
SY DHPR deficiency.
SY Dihydropteridine reductase deficiency.
SY Hyperphenylalaninemia tetrahydrobiopterin-deficient due to DHPR deficiency.
SY QDPR deficiency.
SY Quinoid dihydropteridine reductase deficiency.
DR MIM; 261630; phenotype.
DR MedGen; C0268465.
DR MeSH; D010661.
//
ID Hyperphenylalaninemia, BH4-deficient, D.
AC DI-01279
AR HPABH4D.
DE An autosomal recessive disease characterized by primapterinuria, a
DE variant form of hyperphenylalaninemia defined by increased excretion
DE of 7-substituted pterins in the urine. Patients with primapterinuria
DE show an increased ratio of neopterin to biopterin in the urine,
DE excretion of subnormal levels of biopterins, and normal levels of
DE biogenic amines in cerebrospinal fluid. Neurologic signs are mild,
DE present in the neonatal period only, and include hypotonia, delayed
DE motor development and tremor.
SY CADH deficiency.
SY Hyperphenylalaninemia tetrahydrobiopterin-deficient due to PHS deficiency.
SY Hyperphenylalaninemia tetrahydrobiopterin-deficient due to pterin-4-alpha-carbinolamine dehydratase deficiency.
SY Hyperphenylalaninemia with primapterinuria.
SY PCBD deficiency.
SY PHS deficiency.
SY Pterin-4-alpha-carbinolamine dehydratase deficiency.
DR MIM; 264070; phenotype.
DR MedGen; C1849700.
DR MeSH; D010661.
//
ID Hyperphenylalaninemia, mild, non-BH4-deficient.
AC DI-04966
AR HPANBH4.
DE An autosomal recessive disorder characterized by increased serum
DE phenylalanine, normal BH4 metabolism, and highly variable neurologic
DE defects, including movement abnormalities and intellectual disability.
DR MIM; 617384; phenotype.
DR MedGen; CN240901.
DR MeSH; D000592.
//
ID Hyperphosphatasia with intellectual disability syndrome 1.
AC DI-02921
AR HPMRS1.
DE A severe syndrome characterized by elevated serum alkaline
DE phosphatase, severe intellectual disability, seizures, hypotonia,
DE facial dysmorphism, and hypoplastic terminal phalanges.
SY Glycosylphosphatidylinositol biosynthesis defect 2.
SY GPIBD2.
SY Mabry syndrome.
DR MIM; 239300; phenotype.
DR MedGen; C1855923.
DR MeSH; D008607.
DR MeSH; D010760.
KW KW-0991:Intellectual disability.
//
ID Hyperphosphatasia with intellectual disability syndrome 2.
AC DI-03510
AR HPMRS2.
DE An autosomal recessive form of intellectual disability characterized
DE by facial dysmorphism, brachytelephalangy, and persistent elevated
DE serum alkaline phosphatase (hyperphosphatasia). Some patients may have
DE additional features, such as cardiac septal defects or seizures.
SY Glycosylphosphatidylinositol biosynthesis defect 6.
SY GPIBD6.
DR MIM; 614749; phenotype.
DR MedGen; C3553637.
DR MedGen; CN130636.
DR MeSH; D008607.
DR MeSH; D010760.
KW KW-0991:Intellectual disability.
//
ID Hyperphosphatasia with intellectual disability syndrome 3.
AC DI-03720
AR HPMRS3.
DE An autosomal recessive disorder usually characterized by intellectual
DE disability, hypotonia with very poor motor development, poor speech,
DE and increased serum alkaline phosphatase.
SY Glycosylphosphatidylinositol biosynthesis defect 8.
SY GPIBD8.
SY MRT17.
SY MRT21.
DR MIM; 614207; phenotype.
DR MedGen; C3280153.
DR MeSH; D008607.
DR MeSH; D010760.
KW KW-0991:Intellectual disability.
//
ID Hyperphosphatasia with intellectual disability syndrome 4.
AC DI-04049
AR HPMRS4.
DE An autosomal recessive neurologic disorder characterized by profound
DE developmental delay, severe intellectual disability, no speech,
DE psychomotor delay, postnatal microcephaly, and elevated serum alkaline
DE phosphatase.
DR MIM; 615716; phenotype.
DR MedGen; C3810354.
DR MedGen; CN185452.
DR MeSH; D008607.
DR MeSH; D010760.
KW KW-0991:Intellectual disability.
//
ID Hyperphosphatasia with intellectual disability syndrome 6.
AC DI-04648
AR HPMRS6.
DE An autosomal recessive, multisystem disorder characterized by severe
DE developmental delay, dysmorphism, seizures, cataracts, and early death
DE in some patients.
DR MIM; 616809; phenotype.
DR MedGen; CN235185.
DR MeSH; D008607.
DR MeSH; D010760.
KW KW-0991:Intellectual disability.
//
ID Hyperpigmentation with or without hypopigmentation, familial progressive.
AC DI-02576
AR FPHH.
DE A disorder characterized by hyperpigmented patches in the skin,
DE present in early infancy and increasing in size and number with age.
DE Hyperpigmentation has variable intensity, and sometimes is associated
DE with cafe-au-lait macules and larger hypopigmented ash-leaf macules.
SY Melanosis universalis hereditaria.
SY MUH.
DR MIM; 145250; phenotype.
DR MedGen; C1840392.
//
ID Hyperproinsulinemia.
AC DI-01585
AR HPRI.
DE An autosomal dominant condition characterized by elevated levels of
DE serum proinsulin-like material.
DR MIM; 616214; phenotype.
DR MedGen; C0342283.
DR MeSH; D003920.
//
ID Hyperprolactinemia.
AC DI-03975
AR HPRL.
DE A disorder characterized by increased levels of prolactin in the blood
DE not associated with gestation or the puerperium. HPRL may result in
DE infertility, hypogonadism, and galactorrhea.
DR MIM; 615555; phenotype.
DR MedGen; C0020514.
DR MeSH; D006966.
//
ID Hyperprolinemia 1.
AC DI-01782
AR HYRPRO1.
DE An inborn error of proline metabolism resulting in elevated levels of
DE proline in the plasma and urine. The disorder is generally benign and
DE most affected individuals are clinically asymptomatic. Some patients,
DE however, have neurologic manifestations, including epilepsy and
DE intellectual disability. Association with certain forms of
DE schizophrenia have been reported.
SY HPI.
SY Hyperprolinemia type I.
SY Proline oxidase deficiency.
DR MIM; 239500; phenotype.
DR MedGen; C0268529.
DR MeSH; D000592.
//
ID Hyperprolinemia 2.
AC DI-01783
AR HYRPRO2.
DE An inborn error of proline metabolism resulting in elevated plasma
DE levels of proline and delta-1-pyrroline-5-carboxylate (P5C). The
DE condition is considered to be benign, but affected individuals can
DE exhibit neurological manifestations that vary in severity. Clinical
DE signs include seizures, intellectual deficit and mild developmental
DE delay.
SY 1-pyrroline-5-carboxylate dehydrogenase deficiency.
SY HPII.
SY Hyperprolinemia type II.
DR MIM; 239510; phenotype.
DR MedGen; C2931835.
DR MeSH; D000592.
//
ID Hypertension and brachydactyly syndrome.
AC DI-04464
AR HTNB.
DE A syndrome characterized by brachydactyly type E, severe salt-
DE independent but age-dependent hypertension, an increased fibroblast
DE growth rate, neurovascular contact at the rostral-ventrolateral
DE medulla, and altered baroreflex blood pressure regulation. It results
DE in death from stroke before age 50 years when untreated. Brachydactyly
DE type E is characterized by shortening of the fingers mainly in the
DE metacarpals and metatarsals.
SY Bilginturan syndrome.
SY Brachydactyly, type E, with short stature and hypertension.
SY Brachydactyly type E with short stature and hypertension.
SY Brachydactyly with hypertension.
DR MIM; 112410; phenotype.
DR MedGen; C1862170.
DR MeSH; D006973.
DR MeSH; D059327.
//
ID Hyperthyroidism, non-autoimmune.
AC DI-02059
AR HTNA.
DE A condition characterized by abnormally high levels of serum thyroid
DE hormones, thyroid hyperplasia, goiter and lack of anti-thyroid
DE antibodies. Typical features of Graves disease such as exophthalmia,
DE myxedema, antibodies anti-TSH receptor and lymphocytic infiltration of
DE the thyroid gland are absent.
SY Familial hyperthyroidism due to mutations in TSH receptor.
SY Familial non-immune hyperthyroidism.
SY Hyperthyroidism congenital non-autoimmune.
SY Hyperthyroidism non-autoimmune autosomal dominant.
SY Resistance to thyroid stimulating hormone.
SY Toxic thyroid hyperplasia autosomal dominant.
DR MIM; 609152; phenotype.
DR MedGen; C1836706.
DR MeSH; D006980.
//
ID Hyperthyroxinemia, dystransthyretinemic.
AC DI-01785
AR DTTRH.
DE A condition characterized by elevation of total and free thyroxine in
DE healthy, euthyroid persons without detectable binding protein
DE abnormalities.
SY Dystransthyretinemic euthyroidal hyperthyroxinemia.
SY Euthryroidal hyperthyroxinemia 2.
SY Hyperthyroxinemia dysprealbuminemic.
SY Hyperthyroxinemia dystransthyretinemic.
DR MIM; 145680; phenotype.
DR MedGen; C2750824.
DR MeSH; D006981.
//
ID Hyperthyroxinemia, familial dysalbuminemic.
AC DI-01565
AR FDAH.
DE A disorder characterized by abnormally elevated levels of total serum
DE thyroxine (T4) in euthyroid patients. It is due to abnormal serum
DE albumin that binds T4 with enhanced affinity.
SY Bisalbuminemia.
DR MIM; 615999; phenotype.
DR MedGen; C0342185.
DR MeSH; D050010.
//
ID Hypertrichotic osteochondrodysplasia.
AC DI-03485
AR HTOCD.
DE A rare disorder characterized by congenital hypertrichosis, neonatal
DE macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. The
DE hypertrichosis leads to thick scalp hair, which extends onto the
DE forehead, and a general increase in body hair. In addition,
DE macrocephaly and coarse facial features, including a broad nasal
DE bridge, epicanthal folds, a wide mouth, and full lips, can be
DE suggestive of a storage disorder. About half of affected individuals
DE are macrosomic and edematous at birth, whereas in childhood they
DE usually have a muscular appearance with little subcutaneous fat.
DE Thickened calvarium, narrow thorax, wide ribs, flattened or ovoid
DE vertebral bodies, coxa valga, osteopenia, enlarged medullary canals,
DE and metaphyseal widening of long bones have been reported. Cardiac
DE manifestations such as patent ductus arteriosus, ventricular
DE hypertrophy, pulmonary hypertension, and pericardial effusions are
DE present in approximately 80% of cases. Motor development is usually
DE delayed due to hypotonia. Most patients have a mild speech delay, and
DE a small percentage have learning difficulties or intellectual
DE disability.
SY Cantu syndrome.
DR MIM; 239850; phenotype.
DR MedGen; C0795905.
DR MeSH; D006983.
DR MeSH; D010009.
//
ID Hypertriglyceridemia 2.
AC DI-06131
AR HYTG2.
DE An autosomal dominant form of hypertriglyceridemia, a disorder
DE characterized by elevated plasma triglyceride levels. HYTG2 patients
DE also have increased total cholesterol levels and low levels of high
DE density lipoprotein (HDL) cholesterol. Reduced penetrance has been
DE observed.
DR MIM; 619324; phenotype.
DR MedGen; CN296937.
DR MeSH; D015228.
//
ID Hypertriglyceridemia, familial.
AC DI-01586
AR FHTR.
DE A common inherited disorder in which the concentration of very low
DE density lipoprotein (VLDL) is elevated in the plasma. This leads to
DE increased risk of heart disease, obesity, and pancreatitis.
DR MIM; 145750; phenotype.
DR MeSH; D006953.
//
ID Hypertriglyceridemia, transient infantile.
AC DI-03387
AR HTGTI.
DE An autosomal recessive disorder characterized by onset of moderate to
DE severe transient hypertriglyceridemia in infancy that normalizes with
DE age. The hypertriglyceridemia is associated with hepatomegaly,
DE moderately elevated transaminases, persistent fatty liver, and the
DE development of hepatic fibrosis.
DR MIM; 614480; phenotype.
DR MedGen; C3280953.
DR MeSH; D015228.
//
ID Hypertrophic osteoarthropathy, primary, autosomal dominant.
AC DI-06152
AR PHOAD.
DE A form of primary hypertrophic osteoarthropathy, a disease
DE characterized by digital clubbing, periostosis, acroosteolysis,
DE painful joint enlargement, and variable features of pachydermia that
DE include thickened facial skin and a thickened scalp. PHOAD patients
DE may also experience joint swelling and pain, and some have reported
DE gastrointestinal symptoms, including watery diarrhea. Males are more
DE commonly affected, and more severely affected, than females.
DR MIM; 167100; phenotype.
DR MedGen; C2674695.
DR MeSH; D010004.
//
ID Hypertrophic osteoarthropathy, primary, autosomal recessive, 1.
AC DI-02204
AR PHOAR1.
DE A disease characterized by digital clubbing, periostosis,
DE acroosteolysis, painful joint enlargement, and variable features of
DE pachydermia that include thickened facial skin and a thickened scalp.
DE Other developmental anomalies include delayed closure of the cranial
DE sutures and congenital heart disease.
SY Pachydermoperiostosis autosomal recessive.
SY PDP autosomal recessive.
SY PHO autosomal recessive.
SY Touraine-Solente-Gole syndrome.
DR MIM; 259100; phenotype.
DR MedGen; C0029411.
DR MedGen; C2678440.
DR MedGen; C2678441.
DR MeSH; D010004.
//
ID Hypertrophic osteoarthropathy, primary, autosomal recessive, 2.
AC DI-03345
AR PHOAR2.
DE A disease characterized by digital clubbing, periostosis,
DE acroosteolysis, painful joint enlargement, and variable features of
DE pachydermia that include thickened facial skin and a thickened scalp.
DE Other developmental anomalies include delayed closure of the cranial
DE sutures and congenital heart disease.
DR MIM; 614441; phenotype.
DR MedGen; C3280800.
DR MedGen; CN120637.
DR MeSH; D010004.
//
ID Hypertryptophanemia.
AC DI-05124
AR HYPTRP.
DE An autosomal recessive condition characterized by persistent
DE hypertryptophanemia and hyperserotoninemia.
SY Hypertryptophanemia, familial.
DR MIM; 600627; phenotype.
DR MedGen; C1833562.
DR MeSH; D000592.
//
ID Hyperuricemia, HPRT-related.
AC DI-01683
AR HRH.
DE An X-linked metabolic disorder characterized by uric acid excess in
DE the blood, renal stones, uric acid nephropathy, and renal obstruction.
DE After puberty, the hyperuricemia may cause gout.
SY HPRT1 deficiency, partial.
SY HPRT deficiency, partial.
SY HPRT-related gout.
SY Kelley-Seegmiller syndrome.
DR MIM; 300323; phenotype.
DR MedGen; C0268117.
DR MeSH; D006073.
//
ID Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome.
AC DI-03111
AR HUPRAS.
DE A multisystem disorder characterized by onset in infancy of
DE progressive renal failure leading to electrolyte imbalances, metabolic
DE alkalosis, pulmonary hypertension, hypotonia, and delayed development.
DE Affected individuals are born prematurely.
SY HUPRA syndrome.
DR MIM; 613845; phenotype.
DR MedGen; C3151209.
DR MeSH; D000471.
DR MeSH; D006976.
DR MeSH; D033461.
DR MeSH; D051437.
//
ID Hypervalinemia and hyperleucine-isoleucinemia.
AC DI-05797
AR HVLI.
DE An autosomal recessive metabolic disorder characterized by highly
DE elevated plasma concentrations of valine and leucine/isoleucine.
DE Affected individuals suffer from headache and mild memory impairment.
SY Branched-chain aminotransferase deficiency.
SY Hypervalinemia or hyperleucine-isoleucinemia.
DR MIM; 618850; phenotype.
DR MedGen; CN280851.
DR MeSH; D000592.
//
ID Hypoalphalipoproteinemia, primary, 1.
AC DI-01743
AR FHA1.
DE An autosomal dominant disorder characterized by decreased plasma high
DE density lipoproteins, moderately low HDL cholesterol, a reduction in
DE cellular cholesterol efflux, and susceptibility to premature coronary
DE artery disease.
SY Familial HDL deficiency.
SY Familial hypoalphalipoproteinemia.
SY FHA.
SY FHD.
SY HDLD2.
SY High density lipoprotein deficiency 2.
DR MIM; 604091; phenotype.
DR MedGen; C1704429.
DR MedGen; C2931838.
DR MeSH; D052456.
//
ID Hypoalphalipoproteinemia, primary, 2.
AC DI-05627
AR FHA2.
DE A rare disorder of lipoprotein metabolism, biochemically characterized
DE by complete or partial apoA-I deficiency and mild to severe reduction
DE of serum high-density lipoprotein cholesterol (HDL-C). Severe
DE hypoalphalipoproteinemia characterized by undetectable levels of apoA-
DE I is an autosomal recessive condition, generally associated with
DE markedly increased atherosclerotic cardiovascular disease, xanthomas
DE and corneal opacities. Mild hypoalphalipoproteinemia characterized by
DE half the normal plasma apoA-I and HDL-C levels is inherited as an
DE autosomal dominant trait, may be associated with xanthomas and corneal
DE opacities, but most patients do not have increased cardiovascular
DE risk.
SY Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding.
DR MIM; 618463; phenotype.
DR MedGen; CN262194.
DR MeSH; D052456.
//
ID Hypobetalipoproteinemia, familial, 1.
AC DI-01587
AR FHBL1.
DE A disorder of lipid metabolism characterized by less than 5th
DE percentile age- and sex-specific levels of low density lipoproteins,
DE and dietary fat malabsorption. Clinical presentation may vary from no
DE symptoms to severe gastrointestinal and neurological dysfunction
DE similar to abetalipoproteinemia.
SY Acanthocytosis with hypobetalipoproteinemia.
SY Familial hypobetalipoproteinemia.
SY FHBL.
SY Normotriglyceridemic hypobetalipoproteinemia.
DR MIM; 615558; phenotype.
DR MedGen; C1862598.
DR MedGen; CN182502.
DR MeSH; D006995.
//
ID Hypobetalipoproteinemia, familial, 2.
AC DI-03014
AR FHBL2.
DE A disorder of lipid metabolism characterized by less than 5th
DE percentile age- and sex-specific levels of low density lipoproteins,
DE and dietary fat malabsorption. Affected individuals present with
DE combined hypolipidemia, consisting of extremely low plasma levels of
DE LDL cholesterol, HDL cholesterol, and triglycerides.
SY Combined hypobetalipoproteinemia familial.
DR MIM; 605019; phenotype.
DR MedGen; C1857970.
DR MeSH; D006995.
//
ID Hypocalcemia, autosomal dominant 1.
AC DI-03841
AR HYPOC1.
DE A disorder of mineral homeostasis characterized by blood calcium
DE levels below normal, and low or normal serum parathyroid hormone
DE concentrations. Disease manifestations include mild or asymptomatic
DE hypocalcemia, paresthesias, carpopedal spasm, seizures, hypercalciuria
DE with nephrocalcinosis or kidney stones, and ectopic and basal ganglia
DE calcifications. Few patients manifest hypocalcemia and features of
DE Bartter syndrome, including hypomagnesemia, hypokalemia, metabolic
DE alkalosis, hyperreninemia, and hyperaldosteronemia.
SY Autosomal dominant hypocalcemia with Bartter syndrome.
SY Familial hypocalcemia.
SY Hypercalciuric hypocalcemia.
DR MIM; 601198; phenotype.
DR MedGen; C0342345.
DR MedGen; CN178679.
DR MeSH; D006996.
//
ID Hypocalcemia, autosomal dominant 2.
AC DI-03851
AR HYPOC2.
DE A form of hypocalcemia, a disorder of mineral homeostasis
DE characterized by blood calcium levels below normal, and low or normal
DE serum parathyroid hormone concentrations. Disease manifestations
DE include hypocalcemia, paresthesias, carpopedal spasm, seizures,
DE hypercalciuria with nephrocalcinosis or kidney stones, and ectopic and
DE basal ganglia calcifications.
DR MIM; 615361; phenotype.
DR MedGen; C3809243.
DR MedGen; CN178678.
DR MeSH; D006996.
//
ID Hypocalciuric hypercalcemia, familial 1.
AC DI-01588
AR HHC1.
DE A form of hypocalciuric hypercalcemia, a disorder of mineral
DE homeostasis that is transmitted as an autosomal dominant trait with a
DE high degree of penetrance. It is characterized biochemically by
DE lifelong elevation of serum calcium concentrations and is associated
DE with inappropriately low urinary calcium excretion and a normal or
DE mildly elevated circulating parathyroid hormone level. Hypermagnesemia
DE is typically present. Affected individuals are usually asymptomatic
DE and the disorder is considered benign. However, chondrocalcinosis and
DE pancreatitis occur in some adults.
SY Familial benign hypercalcemia 1.
SY Familial benign hypocalciuric hypercalcemia 1.
SY FBH1.
SY FBHH1.
SY FHH.
SY FHH1.
SY HHC.
SY Hypocalciuric hypercalcemia type I.
DR MIM; 145980; phenotype.
DR MedGen; C0342637.
DR MedGen; C1809471.
DR MedGen; C1840348.
DR MeSH; D006934.
//
ID Hypocalciuric hypercalcemia, familial 2.
AC DI-03852
AR HHC2.
DE A form of hypocalciuric hypercalcemia, a disorder of mineral
DE homeostasis that is transmitted as an autosomal dominant trait with a
DE high degree of penetrance. It is characterized biochemically by
DE lifelong elevation of serum calcium concentrations and is associated
DE with inappropriately low urinary calcium excretion and a normal or
DE mildly elevated circulating parathyroid hormone level. Hypermagnesemia
DE is typically present. Affected individuals are usually asymptomatic
DE and the disorder is considered benign. However, chondrocalcinosis and
DE pancreatitis occur in some adults.
SY Familial benign hypercalcemia type II.
SY FBH2.
DR MIM; 145981; phenotype.
DR MedGen; C1840347.
DR MeSH; D006934.
//
ID Hypocalciuric hypercalcemia, familial 3.
AC DI-03662
AR HHC3.
DE A form of hypocalciuric hypercalcemia, a disorder of mineral
DE homeostasis that is transmitted as an autosomal dominant trait with a
DE high degree of penetrance. It is characterized biochemically by
DE lifelong elevation of serum calcium concentrations and is associated
DE with inappropriately low urinary calcium excretion and a normal or
DE mildly elevated circulating parathyroid hormone level. Hypermagnesemia
DE is typically present. Affected individuals are usually asymptomatic
DE and the disorder is considered benign. However, chondrocalcinosis and
DE pancreatitis occur in some adults.
SY Familial benign hypercalcemia 3.
SY Familial benign hypercalcemia Oklahoma type.
SY Familial benign hypocalciuric hypercalcemia 3.
SY FBH3.
SY FBHH3.
SY FHH3.
SY Hypocalciuric hypercalcemia type III.
DR MIM; 600740; phenotype.
DR MedGen; C1833372.
DR MeSH; D006934.
//
ID Hypochondroplasia.
AC DI-01786
AR HCH.
DE Autosomal dominant disease and is characterized by disproportionate
DE short stature. It resembles achondroplasia, but with a less severe
DE phenotype.
DR MIM; 146000; phenotype.
DR MedGen; C0410529.
//
ID Hypogonadotropic hypogonadism 1 with or without anosmia.
AC DI-00617
AR HH1.
DE A disorder characterized by absent or incomplete sexual maturation by
DE the age of 18 years, in conjunction with low levels of circulating
DE gonadotropins and testosterone and no other abnormalities of the
DE hypothalamic-pituitary axis. In some cases, it is associated with non-
DE reproductive phenotypes, such as anosmia, cleft palate, and
DE sensorineural hearing loss. Anosmia or hyposmia is related to the
DE absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE is due to deficiency in gonadotropin-releasing hormone and probably
DE results from a failure of embryonic migration of gonadotropin-
DE releasing hormone-synthesizing neurons. In the presence of anosmia,
DE idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE syndrome, whereas in the presence of a normal sense of smell, it has
DE been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
SY Anosmic hypogonadism.
SY Dysplasia olfactogenitalis of De Morsier.
SY HHA.
SY Hypogonadotropic hypogonadism and anosmia.
SY KAL1.
SY Kallmann syndrome 1.
SY KMS.
DR MIM; 308700; phenotype.
DR MedGen; C1563719.
DR MeSH; D017436.
KW KW-0956:Kallmann syndrome.
KW KW-1016:Hypogonadotropic hypogonadism.
//
ID Hypogonadotropic hypogonadism 10 with or without anosmia.
AC DI-03570
AR HH10.
DE A disorder characterized by absent or incomplete sexual maturation by
DE the age of 18 years, in conjunction with low levels of circulating
DE gonadotropins and testosterone and no other abnormalities of the
DE hypothalamic-pituitary axis. In some cases, it is associated with non-
DE reproductive phenotypes, such as anosmia, cleft palate, and
DE sensorineural hearing loss. Anosmia or hyposmia is related to the
DE absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE is due to deficiency in gonadotropin-releasing hormone and probably
DE results from a failure of embryonic migration of gonadotropin-
DE releasing hormone-synthesizing neurons. In the presence of anosmia,
DE idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE syndrome, whereas in the presence of a normal sense of smell, it has
DE been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
DR MIM; 614839; phenotype.
DR MedGen; C3553843.
DR MedGen; CN143962.
DR MeSH; D007006.
KW KW-1016:Hypogonadotropic hypogonadism.
//
ID Hypogonadotropic hypogonadism 11 with or without anosmia.
AC DI-03571
AR HH11.
DE A disorder characterized by absent or incomplete sexual maturation by
DE the age of 18 years, in conjunction with low levels of circulating
DE gonadotropins and testosterone and no other abnormalities of the
DE hypothalamic-pituitary axis. In some cases, it is associated with non-
DE reproductive phenotypes, such as anosmia, cleft palate, and
DE sensorineural hearing loss. Anosmia or hyposmia is related to the
DE absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE is due to deficiency in gonadotropin-releasing hormone and probably
DE results from a failure of embryonic migration of gonadotropin-
DE releasing hormone-synthesizing neurons. In the presence of anosmia,
DE idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE syndrome, whereas in the presence of a normal sense of smell, it has
DE been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
DR MIM; 614840; phenotype.
DR MedGen; C3553844.
DR MedGen; CN143963.
DR MeSH; D007006.
KW KW-1016:Hypogonadotropic hypogonadism.
//
ID Hypogonadotropic hypogonadism 12 with or without anosmia.
AC DI-03572
AR HH12.
DE A disorder characterized by absent or incomplete sexual maturation by
DE the age of 18 years, in conjunction with low levels of circulating
DE gonadotropins and testosterone and no other abnormalities of the
DE hypothalamic-pituitary axis. In some cases, it is associated with non-
DE reproductive phenotypes, such as anosmia, cleft palate, and
DE sensorineural hearing loss. Anosmia or hyposmia is related to the
DE absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE is due to deficiency in gonadotropin-releasing hormone and probably
DE results from a failure of embryonic migration of gonadotropin-
DE releasing hormone-synthesizing neurons. In the presence of anosmia,
DE idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE syndrome, whereas in the presence of a normal sense of smell, it has
DE been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
SY Eunuchoidism, familial hypogonadotropic.
SY FIGD.
SY Gonadotropin deficiency, familial idiopathic.
DR MIM; 614841; phenotype.
DR MedGen; C3553845.
DR MedGen; CN143964.
DR MeSH; D007006.
KW KW-0956:Kallmann syndrome.
KW KW-1016:Hypogonadotropic hypogonadism.
//
ID Hypogonadotropic hypogonadism 13 with or without anosmia.
AC DI-03573
AR HH13.
DE A disorder characterized by absent or incomplete sexual maturation by
DE the age of 18 years, in conjunction with low levels of circulating
DE gonadotropins and testosterone and no other abnormalities of the
DE hypothalamic-pituitary axis. In some cases, it is associated with non-
DE reproductive phenotypes, such as anosmia, cleft palate, and
DE sensorineural hearing loss. Anosmia or hyposmia is related to the
DE absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE is due to deficiency in gonadotropin-releasing hormone and probably
DE results from a failure of embryonic migration of gonadotropin-
DE releasing hormone-synthesizing neurons. In the presence of anosmia,
DE idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE syndrome, whereas in the presence of a normal sense of smell, it has
DE been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
DR MIM; 614842; phenotype.
DR MedGen; C3541462.
DR MedGen; CN143965.
DR MeSH; D007006.
KW KW-1016:Hypogonadotropic hypogonadism.
//
ID Hypogonadotropic hypogonadism 14 with or without anosmia.
AC DI-03574
AR HH14.
DE A disorder characterized by absent or incomplete sexual maturation by
DE the age of 18 years, in conjunction with low levels of circulating
DE gonadotropins and testosterone and no other abnormalities of the
DE hypothalamic-pituitary axis. In some cases, it is associated with non-
DE reproductive phenotypes, such as anosmia, cleft palate, and
DE sensorineural hearing loss. Anosmia or hyposmia is related to the
DE absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE is due to deficiency in gonadotropin-releasing hormone and probably
DE results from a failure of embryonic migration of gonadotropin-
DE releasing hormone-synthesizing neurons. In the presence of anosmia,
DE idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE syndrome, whereas in the presence of a normal sense of smell, it has
DE been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
DR MIM; 614858; phenotype.
DR MedGen; C3540450.
DR MedGen; CN158713.
DR MeSH; D007006.
KW KW-0956:Kallmann syndrome.
KW KW-1016:Hypogonadotropic hypogonadism.
//
ID Hypogonadotropic hypogonadism 15 with or without anosmia.
AC DI-03575
AR HH15.
DE A disorder characterized by absent or incomplete sexual maturation by
DE the age of 18 years, in conjunction with low levels of circulating
DE gonadotropins and testosterone and no other abnormalities of the
DE hypothalamic-pituitary axis. In some cases, it is associated with non-
DE reproductive phenotypes, such as anosmia, cleft palate, and
DE sensorineural hearing loss. Anosmia or hyposmia is related to the
DE absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE is due to deficiency in gonadotropin-releasing hormone and probably
DE results from a failure of embryonic migration of gonadotropin-
DE releasing hormone-synthesizing neurons. In the presence of anosmia,
DE idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE syndrome, whereas in the presence of a normal sense of smell, it has
DE been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
DR MIM; 614880; phenotype.
DR MedGen; C3553977.
DR MedGen; CN158801.
DR MeSH; D007006.
KW KW-0956:Kallmann syndrome.
KW KW-1016:Hypogonadotropic hypogonadism.
//
ID Hypogonadotropic hypogonadism 16 with or without anosmia.
AC DI-03576
AR HH16.
DE A disorder characterized by absent or incomplete sexual maturation by
DE the age of 18 years, in conjunction with low levels of circulating
DE gonadotropins and testosterone and no other abnormalities of the
DE hypothalamic-pituitary axis. In some cases, it is associated with non-
DE reproductive phenotypes, such as anosmia, cleft palate, and
DE sensorineural hearing loss. Anosmia or hyposmia is related to the
DE absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE is due to deficiency in gonadotropin-releasing hormone and probably
DE results from a failure of embryonic migration of gonadotropin-
DE releasing hormone-synthesizing neurons. In the presence of anosmia,
DE idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE syndrome, whereas in the presence of a normal sense of smell, it has
DE been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
DR MIM; 614897; phenotype.
DR MedGen; C3554021.
DR MedGen; CN159226.
DR MeSH; D007006.
KW KW-0956:Kallmann syndrome.
KW KW-1016:Hypogonadotropic hypogonadism.
//
ID Hypogonadotropic hypogonadism 17 with or without anosmia.
AC DI-03768
AR HH17.
DE A disorder characterized by absent or incomplete sexual maturation by
DE the age of 18 years, in conjunction with low levels of circulating
DE gonadotropins and testosterone and no other abnormalities of the
DE hypothalamic-pituitary axis. In some cases, it is associated with non-
DE reproductive phenotypes, such as anosmia, cleft palate, and
DE sensorineural hearing loss. Anosmia or hyposmia is related to the
DE absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE is due to deficiency in gonadotropin-releasing hormone and probably
DE results from a failure of embryonic migration of gonadotropin-
DE releasing hormone-synthesizing neurons. In the presence of anosmia,
DE idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE syndrome, whereas in the presence of a normal sense of smell, it has
DE been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
DR MIM; 615266; phenotype.
DR MedGen; C3808971.
DR MedGen; CN170853.
DR MeSH; D007006.
KW KW-0956:Kallmann syndrome.
KW KW-1016:Hypogonadotropic hypogonadism.
//
ID Hypogonadotropic hypogonadism 18 with or without anosmia.
AC DI-03769
AR HH18.
DE A disorder characterized by absent or incomplete sexual maturation by
DE the age of 18 years, in conjunction with low levels of circulating
DE gonadotropins and testosterone and no other abnormalities of the
DE hypothalamic-pituitary axis. In some cases, it is associated with non-
DE reproductive phenotypes, such as anosmia, cleft palate, and
DE sensorineural hearing loss. Anosmia or hyposmia is related to the
DE absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE is due to deficiency in gonadotropin-releasing hormone and probably
DE results from a failure of embryonic migration of gonadotropin-
DE releasing hormone-synthesizing neurons. In the presence of anosmia,
DE idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE syndrome, whereas in the presence of a normal sense of smell, it has
DE been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
DR MIM; 615267; phenotype.
DR MedGen; C3808975.
DR MedGen; CN170854.
DR MeSH; D007006.
KW KW-0956:Kallmann syndrome.
KW KW-1016:Hypogonadotropic hypogonadism.
//
ID Hypogonadotropic hypogonadism 19 with or without anosmia.
AC DI-03770
AR HH19.
DE A disorder characterized by absent or incomplete sexual maturation by
DE the age of 18 years, in conjunction with low levels of circulating
DE gonadotropins and testosterone and no other abnormalities of the
DE hypothalamic-pituitary axis. In some cases, it is associated with non-
DE reproductive phenotypes, such as anosmia, cleft palate, and
DE sensorineural hearing loss. Anosmia or hyposmia is related to the
DE absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE is due to deficiency in gonadotropin-releasing hormone and probably
DE results from a failure of embryonic migration of gonadotropin-
DE releasing hormone-synthesizing neurons. In the presence of anosmia,
DE idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE syndrome, whereas in the presence of a normal sense of smell, it has
DE been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
DR MIM; 615269; phenotype.
DR MedGen; C3808981.
DR MedGen; CN170855.
DR MeSH; D007006.
KW KW-0956:Kallmann syndrome.
KW KW-1016:Hypogonadotropic hypogonadism.
//
ID Hypogonadotropic hypogonadism 2 with or without anosmia.
AC DI-00618
AR HH2.
DE A disorder characterized by absent or incomplete sexual maturation by
DE the age of 18 years, in conjunction with low levels of circulating
DE gonadotropins and testosterone and no other abnormalities of the
DE hypothalamic-pituitary axis. In some cases, it is associated with non-
DE reproductive phenotypes, such as anosmia, cleft palate, and
DE sensorineural hearing loss. Anosmia or hyposmia is related to the
DE absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE is due to deficiency in gonadotropin-releasing hormone and probably
DE results from a failure of embryonic migration of gonadotropin-
DE releasing hormone-synthesizing neurons. In the presence of anosmia,
DE idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE syndrome, whereas in the presence of a normal sense of smell, it has
DE been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
SY KAL2.
SY Kallmann syndrome 2.
DR MIM; 147950; phenotype.
DR MedGen; C1563720.
DR MedGen; C1835793.
DR MedGen; C1835794.
DR MedGen; C1969607.
DR MeSH; D017436.
KW KW-0956:Kallmann syndrome.
KW KW-1016:Hypogonadotropic hypogonadism.
//
ID Hypogonadotropic hypogonadism 20 with or without anosmia.
AC DI-03771
AR HH20.
DE A disorder characterized by absent or incomplete sexual maturation by
DE the age of 18 years, in conjunction with low levels of circulating
DE gonadotropins and testosterone and no other abnormalities of the
DE hypothalamic-pituitary axis. In some cases, it is associated with non-
DE reproductive phenotypes, such as anosmia, cleft palate, and
DE sensorineural hearing loss. Anosmia or hyposmia is related to the
DE absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE is due to deficiency in gonadotropin-releasing hormone and probably
DE results from a failure of embryonic migration of gonadotropin-
DE releasing hormone-synthesizing neurons. In the presence of anosmia,
DE idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE syndrome, whereas in the presence of a normal sense of smell, it has
DE been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
DR MIM; 615270; phenotype.
DR MedGen; C3808983.
DR MedGen; CN170856.
DR MeSH; D007006.
KW KW-0956:Kallmann syndrome.
KW KW-1016:Hypogonadotropic hypogonadism.
//
ID Hypogonadotropic hypogonadism 21 with or without anosmia.
AC DI-03772
AR HH21.
DE A disorder characterized by absent or incomplete sexual maturation by
DE the age of 18 years, in conjunction with low levels of circulating
DE gonadotropins and testosterone and no other abnormalities of the
DE hypothalamic-pituitary axis. In some cases, it is associated with non-
DE reproductive phenotypes, such as anosmia, cleft palate, and
DE sensorineural hearing loss. Anosmia or hyposmia is related to the
DE absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE is due to deficiency in gonadotropin-releasing hormone and probably
DE results from a failure of embryonic migration of gonadotropin-
DE releasing hormone-synthesizing neurons. In the presence of anosmia,
DE idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE syndrome, whereas in the presence of a normal sense of smell, it has
DE been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
DR MIM; 615271; phenotype.
DR MedGen; C3808986.
DR MedGen; CN170857.
DR MeSH; D007006.
KW KW-0956:Kallmann syndrome.
KW KW-1016:Hypogonadotropic hypogonadism.
//
ID Hypogonadotropic hypogonadism 22 with or without anosmia.
AC DI-04228
AR HH22.
DE A disorder characterized by absent or incomplete sexual maturation by
DE the age of 18 years, in conjunction with low levels of circulating
DE gonadotropins and testosterone and no other abnormalities of the
DE hypothalamic-pituitary axis. In some cases, it is associated with non-
DE reproductive phenotypes, such as anosmia, cleft palate, and
DE sensorineural hearing loss. Anosmia or hyposmia is related to the
DE absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE is due to deficiency in gonadotropin-releasing hormone and probably
DE results from a failure of embryonic migration of gonadotropin-
DE releasing hormone-synthesizing neurons. In the presence of anosmia,
DE idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE syndrome, whereas in the presence of a normal sense of smell, it has
DE been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
DR MIM; 616030; phenotype.
DR MedGen; CN219577.
DR MeSH; D007006.
KW KW-0956:Kallmann syndrome.
KW KW-1016:Hypogonadotropic hypogonadism.
//
ID Hypogonadotropic hypogonadism 23 with or without anosmia.
AC DI-01614
AR HH23.
DE A form of hypogonadotropic hypogonadism, a group of disorders
DE characterized by absent or incomplete sexual maturation by the age of
DE 18 years, in conjunction with low levels of circulating gonadotropins
DE and testosterone and no other abnormalities of the hypothalamic-
DE pituitary axis. HH23 male patients have normal sexual differentiation,
DE reduced or absent Leydig cells, reduced or absent spermatogenesis, and
DE absence of spontaneous puberty. Female patients exhibit normal
DE pubertal development and menarche, followed by oligomenorrhea and
DE anovulatory secondary amenorrhea.
SY Fertile eunuch syndrome.
SY Pasqualini syndrome.
DR MIM; 228300; phenotype.
DR MedGen; C0271582.
DR MeSH; D005058.
KW KW-1016:Hypogonadotropic hypogonadism.
//
ID Hypogonadotropic hypogonadism 24 with or without anosmia.
AC DI-01840
AR HH24.
DE A form of hypogonadotropic hypogonadism, a group of disorders
DE characterized by absent or incomplete sexual maturation by the age of
DE 18 years, in conjunction with low levels of circulating gonadotropins
DE and testosterone and no other abnormalities of the hypothalamic-
DE pituitary axis. HH24 is characterized by primary amenorrhea in women,
DE oligo or azoospermia with low to normal testosterone levels in men,
DE and infertility.
SY Follicle-stimulating hormone deficiency, isolated.
DR MIM; 229070; phenotype.
DR MedGen; C1856716.
DR MeSH; D007006.
DR MeSH; D007246.
KW KW-1016:Hypogonadotropic hypogonadism.
//
ID Hypogonadotropic hypogonadism 25 with anosmia.
AC DI-05798
AR HH25.
DE A form of hypogonadotropic hypogonadism, a group of disorders
DE characterized by absent or incomplete sexual maturation by the age of
DE 18 years, in conjunction with low levels of circulating gonadotropins
DE and testosterone, and no other abnormalities of the hypothalamic-
DE pituitary axis. In some cases, it is associated with non-reproductive
DE phenotypes, such as anosmia, cleft palate, and sensorineural hearing
DE loss. Anosmia or hyposmia is related to the absence or hypoplasia of
DE the olfactory bulbs and tracts. In the presence of anosmia, idiopathic
DE hypogonadotropic hypogonadism is referred to as Kallmann syndrome,
DE whereas in the presence of a normal sense of smell, it has been termed
DE normosmic idiopathic hypogonadotropic hypogonadism (nIHH). HH25 is an
DE autosomal dominant form with anosmia, characterized by intrafamilial
DE variable expressivity and incomplete penetrance.
DR MIM; 618841; phenotype.
DR MedGen; CN272917.
DR MeSH; D017436.
KW KW-0956:Kallmann syndrome.
KW KW-1016:Hypogonadotropic hypogonadism.
//
ID Hypogonadotropic hypogonadism 26 with or without anosmia.
AC DI-06321
AR HH26.
DE A form of hypogonadotropic hypogonadism, a group of disorders
DE characterized by absent or incomplete sexual maturation by the age of
DE 18 years, in conjunction with low levels of circulating gonadotropins
DE and testosterone, and no other abnormalities of the hypothalamic-
DE pituitary axis. In some cases, it is associated with non-reproductive
DE phenotypes, such as anosmia, cleft palate, and sensorineural hearing
DE loss. Anosmia or hyposmia is related to the absence or hypoplasia of
DE the olfactory bulbs and tracts. In the presence of anosmia, idiopathic
DE hypogonadotropic hypogonadism is referred to as Kallmann syndrome,
DE whereas in the presence of a normal sense of smell, it has been termed
DE normosmic idiopathic hypogonadotropic hypogonadism (nIHH). HH26 is
DE characterized by micropenis and cryptorchidism at birth in male
DE patients, and absent puberty and anosmia in male or female patients.
DE Some affected individuals also exhibit craniosynostosis. Inheritance
DE can be autosomal dominant or autosomal recessive.
DR MIM; 619718; phenotype.
DR MedGen; CN306196.
DR MeSH; D017436.
KW KW-0956:Kallmann syndrome.
KW KW-1016:Hypogonadotropic hypogonadism.
//
ID Hypogonadotropic hypogonadism 27 without anosmia.
AC DI-06349
AR HH27.
DE A form of hypogonadotropic hypogonadism, a group of disorders
DE characterized by absent or incomplete sexual maturation by the age of
DE 18 years, in conjunction with low levels of circulating gonadotropins
DE and testosterone, and no other abnormalities of the hypothalamic-
DE pituitary axis. In some cases, it is associated with non-reproductive
DE phenotypes, such as anosmia, cleft palate, and sensorineural hearing
DE loss. Anosmia or hyposmia is related to the absence or hypoplasia of
DE the olfactory bulbs and tracts. In the presence of anosmia, idiopathic
DE hypogonadotropic hypogonadism is referred to as Kallmann syndrome,
DE whereas in the presence of a normal sense of smell, it has been termed
DE normosmic idiopathic hypogonadotropic hypogonadism (nIHH). HH27 is an
DE autosomal recessive normosmic form characterized by lack of pubertal
DE development associated with onset of obesity in early adolescence.
DR MIM; 619755; phenotype.
DR MedGen; CN306632.
DR MeSH; D017436.
KW KW-1016:Hypogonadotropic hypogonadism.
//
ID Hypogonadotropic hypogonadism 3 with or without anosmia.
AC DI-00619
AR HH3.
DE A disorder characterized by absent or incomplete sexual maturation by
DE the age of 18 years, in conjunction with low levels of circulating
DE gonadotropins and testosterone and no other abnormalities of the
DE hypothalamic-pituitary axis. In some cases, it is associated with non-
DE reproductive phenotypes, such as anosmia, cleft palate, and
DE sensorineural hearing loss. Anosmia or hyposmia is related to the
DE absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE is due to deficiency in gonadotropin-releasing hormone and probably
DE results from a failure of embryonic migration of gonadotropin-
DE releasing hormone-synthesizing neurons. In the presence of anosmia,
DE idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE syndrome, whereas in the presence of a normal sense of smell, it has
DE been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
SY KAL3.
SY Kallmann syndrome 3.
DR MIM; 244200; phenotype.
DR MedGen; C2930927.
DR MedGen; C3550478.
DR MeSH; D017436.
KW KW-0956:Kallmann syndrome.
KW KW-1016:Hypogonadotropic hypogonadism.
//
ID Hypogonadotropic hypogonadism 4 with or without anosmia.
AC DI-00620
AR HH4.
DE A disorder characterized by absent or incomplete sexual maturation by
DE the age of 18 years, in conjunction with low levels of circulating
DE gonadotropins and testosterone and no other abnormalities of the
DE hypothalamic-pituitary axis. In some cases, it is associated with non-
DE reproductive phenotypes, such as anosmia, cleft palate, and
DE sensorineural hearing loss. Anosmia or hyposmia is related to the
DE absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE is due to deficiency in gonadotropin-releasing hormone and probably
DE results from a failure of embryonic migration of gonadotropin-
DE releasing hormone-synthesizing neurons. In the presence of anosmia,
DE idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE syndrome, whereas in the presence of a normal sense of smell, it has
DE been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
SY KAL4.
SY Kallmann syndrome 4.
DR MIM; 610628; phenotype.
DR MedGen; C1857720.
DR MedGen; C3552343.
DR MeSH; D017436.
KW KW-0956:Kallmann syndrome.
KW KW-1016:Hypogonadotropic hypogonadism.
//
ID Hypogonadotropic hypogonadism 5 with or without anosmia.
AC DI-00621
AR HH5.
DE A disorder characterized by absent or incomplete sexual maturation by
DE the age of 18 years, in conjunction with low levels of circulating
DE gonadotropins and testosterone and no other abnormalities of the
DE hypothalamic-pituitary axis. In some cases, it is associated with non-
DE reproductive phenotypes, such as anosmia, cleft palate, and
DE sensorineural hearing loss. Anosmia or hyposmia is related to the
DE absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE is due to deficiency in gonadotropin-releasing hormone and probably
DE results from a failure of embryonic migration of gonadotropin-
DE releasing hormone-synthesizing neurons. In the presence of anosmia,
DE idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE syndrome, whereas in the presence of a normal sense of smell, it has
DE been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
SY KAL5.
SY Kallmann syndrome 5.
DR MIM; 612370; phenotype.
DR MedGen; C2675302.
DR MedGen; C3552553.
DR MeSH; D017436.
KW KW-0956:Kallmann syndrome.
KW KW-1016:Hypogonadotropic hypogonadism.
//
ID Hypogonadotropic hypogonadism 6 with or without anosmia.
AC DI-00622
AR HH6.
DE A disorder characterized by absent or incomplete sexual maturation by
DE the age of 18 years, in conjunction with low levels of circulating
DE gonadotropins and testosterone and no other abnormalities of the
DE hypothalamic-pituitary axis. In some cases, it is associated with non-
DE reproductive phenotypes, such as anosmia, cleft palate, and
DE sensorineural hearing loss. Anosmia or hyposmia is related to the
DE absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE is due to deficiency in gonadotropin-releasing hormone and probably
DE results from a failure of embryonic migration of gonadotropin-
DE releasing hormone-synthesizing neurons. In the presence of anosmia,
DE idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE syndrome, whereas in the presence of a normal sense of smell, it has
DE been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
SY KAL6.
SY Kallmann syndrome 6.
DR MIM; 612702; phenotype.
DR MedGen; C2675188.
DR MedGen; C3552574.
DR MeSH; D017436.
KW KW-0956:Kallmann syndrome.
KW KW-1016:Hypogonadotropic hypogonadism.
//
ID Hypogonadotropic hypogonadism 7 with or without anosmia.
AC DI-00595
AR HH7.
DE A disorder characterized by absent or incomplete sexual maturation by
DE the age of 18 years, in conjunction with low levels of circulating
DE gonadotropins and testosterone and no other abnormalities of the
DE hypothalamic-pituitary axis. In some cases, it is associated with non-
DE reproductive phenotypes, such as anosmia, cleft palate, and
DE sensorineural hearing loss. Anosmia or hyposmia is related to the
DE absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE is due to deficiency in gonadotropin-releasing hormone and probably
DE results from a failure of embryonic migration of gonadotropin-
DE releasing hormone-synthesizing neurons. In the presence of anosmia,
DE idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE syndrome, whereas in the presence of a normal sense of smell, it has
DE been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
SY Congenital hypogonadotropic hypogonadism normosmic.
SY HH.
SY Hypogonadotropic hypogonadism.
SY Idiopathic hypogonadotropic hypogonadism.
SY IHH.
SY Isolated hypogonadotropic hypogonadism.
DR MIM; 146110; phenotype.
DR MedGen; C0342384.
DR MeSH; D007006.
KW KW-1016:Hypogonadotropic hypogonadism.
//
ID Hypogonadotropic hypogonadism 8 with or without anosmia.
AC DI-03568
AR HH8.
DE A disorder characterized by absent or incomplete sexual maturation by
DE the age of 18 years, in conjunction with low levels of circulating
DE gonadotropins and testosterone and no other abnormalities of the
DE hypothalamic-pituitary axis. In some cases, it is associated with non-
DE reproductive phenotypes, such as anosmia, cleft palate, and
DE sensorineural hearing loss. Anosmia or hyposmia is related to the
DE absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE is due to deficiency in gonadotropin-releasing hormone and probably
DE results from a failure of embryonic migration of gonadotropin-
DE releasing hormone-synthesizing neurons. In the presence of anosmia,
DE idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE syndrome, whereas in the presence of a normal sense of smell, it has
DE been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
DR MIM; 614837; phenotype.
DR MedGen; C3553841.
DR MedGen; CN143960.
DR MeSH; D007006.
KW KW-1016:Hypogonadotropic hypogonadism.
//
ID Hypogonadotropic hypogonadism 9 with or without anosmia.
AC DI-03569
AR HH9.
DE A disorder characterized by absent or incomplete sexual maturation by
DE the age of 18 years, in conjunction with low levels of circulating
DE gonadotropins and testosterone and no other abnormalities of the
DE hypothalamic-pituitary axis. In some cases, it is associated with non-
DE reproductive phenotypes, such as anosmia, cleft palate, and
DE sensorineural hearing loss. Anosmia or hyposmia is related to the
DE absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE is due to deficiency in gonadotropin-releasing hormone and probably
DE results from a failure of embryonic migration of gonadotropin-
DE releasing hormone-synthesizing neurons. In the presence of anosmia,
DE idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE syndrome, whereas in the presence of a normal sense of smell, it has
DE been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
DR MIM; 614838; phenotype.
DR MedGen; C3553842.
DR MedGen; CN143961.
DR MeSH; D007006.
KW KW-0956:Kallmann syndrome.
KW KW-1016:Hypogonadotropic hypogonadism.
//
ID Hypoinsulinemic hypoglycemia with hemihypertrophy.
AC DI-03305
AR HIHGHH.
DE A disorder characterized by hypoglycemia, low insulin levels, low
DE serum levels of ketone bodies and branched-chain amino acids, left-
DE sided hemihypertrophy, neonatal macrosomia, reduced consciousness and
DE hypoglycemic seizures.
DR MIM; 240900; phenotype.
DR MedGen; C3278384.
DR MeSH; D007003.
//
ID Hypokalemic tubulopathy and deafness.
AC DI-06151
AR HKTD.
DE An autosomal recessive disease characterized by renal tubulopathy with
DE hypokalemia, salt wasting, disturbed acid-base homeostasis, and
DE sensorineural deafness.
DR MIM; 619406; phenotype.
DR MedGen; CN299282.
DR MeSH; D006319.
DR MeSH; D015499.
KW KW-0209:Deafness.
//
ID Hypomagnesemia 1.
AC DI-00576
AR HOMG1.
DE A disorder due to a primary defect in intestinal magnesium absorption.
DE It is characterized by low levels of serum magnesium alongside with a
DE normal renal magnesium secretion, secondary hypocalcemia and
DE calcinocis. Affected individuals show neurologic symptoms of
DE hypomagnesemic hypocalcemia, including seizures and muscle spasms,
DE during infancy. Hypocalcemia is secondary to parathyroid failure
DE resulting from magnesium deficiency. Untreated, the disorder may be
DE fatal or may result in neurological damage.
SY HOMG.
SY HSH.
SY Hypomagnesemia with secondary hypocalcemia.
SY Hypomagnesemic tetany.
SY Intestinal hypomagnesemia 1.
SY Intestinal hypomagnesemia with secondary hypocalcemia.
DR MIM; 602014; phenotype.
DR MedGen; C0269941.
DR MedGen; C0342658.
DR MedGen; C1865974.
DR MeSH; D008286.
KW KW-0982:Primary hypomagnesemia.
//
ID Hypomagnesemia 2.
AC DI-00577
AR HOMG2.
DE A disorder due to primary renal wasting of magnesium. Plasma levels of
DE other electrolytes are normal. The only abnormality found, in addition
DE to low magnesium levels, is lowered renal excretion of calcium
DE resulting in hypocalciuria.
SY Dominant renal hypomagnesemia.
SY Hypomagnesemia with hypocalciuria.
SY Isolated renal magnesium loss.
SY Renal hypomagnesemia 2.
SY Renal magnesium wasting.
DR MIM; 154020; phenotype.
DR MedGen; C1835171.
DR MeSH; D015499.
KW KW-0982:Primary hypomagnesemia.
//
ID Hypomagnesemia 3.
AC DI-00578
AR HOMG3.
DE A progressive renal disease characterized by primary renal magnesium
DE wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis.
DE Recurrent urinary tract infections and kidney stones are often
DE observed. In spite of hypercalciuria, patients do not show
DE hypocalcemia.
SY Familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
SY FHHNC.
SY HHN.
SY Renal hypomagnesemia hypercalciuria nephrocalcinosis.
DR MIM; 248250; phenotype.
DR MedGen; C0268448.
DR MedGen; C3151482.
DR MeSH; D009397.
DR MeSH; D015499.
DR MeSH; D053565.
KW KW-0982:Primary hypomagnesemia.
//
ID Hypomagnesemia 4.
AC DI-00579
AR HOMG4.
DE A disorder characterized by massive renal hypomagnesemia and normal
DE levels of serum calcium and calcium excretion. Clinical features
DE include seizures, mild-to moderate psychomotor retardation, and brisk
DE tendon reflexes.
SY Renal hypomagnesemia normocalciuric.
DR MIM; 611718; phenotype.
DR MedGen; C2673648.
DR MeSH; D015499.
KW KW-0982:Primary hypomagnesemia.
//
ID Hypomagnesemia 5, renal, with or without ocular involvement.
AC DI-00575
AR HOMG5.
DE A progressive renal disease characterized by primary renal magnesium
DE wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis
DE associated with severe ocular abnormalities such as bilateral
DE chorioretinal scars, macular colobomata, significant myopia and
DE nystagmus. The renal phenotype is virtually undistinguishable from
DE that of patients with HOMG3.
SY Familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement.
SY FHHNC with severe ocular involvement.
SY Hypomagnesemia 5.
SY Hypomagnesemia 5 renal with ocular involvement.
SY Hypomagnesemia renal with ocular involvement.
SY Macular coloboma bilateral with hypercalciuria.
DR MIM; 248190; phenotype.
DR MedGen; C1855466.
DR MeSH; D009397.
DR MeSH; D015499.
DR MeSH; D053565.
KW KW-0982:Primary hypomagnesemia.
//
ID Hypomagnesemia 6.
AC DI-03071
AR HOMG6.
DE A renal disease characterized by severely lowered serum magnesium
DE levels in the absence of other electrolyte disturbances. Affected
DE individuals show an inappropriately normal urinary magnesium
DE excretion, demonstrating a defect in tubular reabsorption. Age of
DE clinical onset is highly variable and some affected individuals are
DE asymptomatic.
DR MIM; 613882; phenotype.
DR MedGen; C3151295.
DR MeSH; D015499.
KW KW-0982:Primary hypomagnesemia.
//
ID Hypomagnesemia, seizures, and intellectual disability 1.
AC DI-04456
AR HOMGSMR1.
DE A disease characterized by renal wasting of magnesium, low serum
DE magnesium, seizures, and variable degrees of delayed psychomotor
DE development.
DR MIM; 616418; phenotype.
DR MedGen; CN231255.
DR MeSH; D008607.
DR MeSH; D012640.
DR MeSH; D015499.
KW KW-0887:Epilepsy.
KW KW-0982:Primary hypomagnesemia.
KW KW-0991:Intellectual disability.
//
ID Hypomagnesemia, seizures, and intellectual disability 2.
AC DI-05475
AR HOMGSMR2.
DE An autosomal dominant disease characterized by generalized seizures in
DE infancy, severe hypomagnesemia, and renal magnesium wasting. Seizures
DE persist despite magnesium supplementation and are associated with
DE significant intellectual disability.
DR MIM; 618314; phenotype.
DR MedGen; CN258187.
DR MeSH; D008607.
DR MeSH; D012640.
DR MeSH; D015499.
KW KW-0887:Epilepsy.
KW KW-0982:Primary hypomagnesemia.
KW KW-0991:Intellectual disability.
//
ID Hypomyelination with brainstem and spinal cord involvement and leg spasticity.
AC DI-03775
AR HBSL.
DE An autosomal recessive leukoencephalopathy characterized by onset in
DE the first year of life of severe spasticity, mainly affecting the
DE lower limbs and resulting in an inability to achieve independent
DE ambulation. Affected individuals show delayed motor development and
DE nystagmus; some may have mild intellectual disability. Brain MRI shows
DE hypomyelination and white matter lesions in the cerebrum, brainstem,
DE cerebellum, and spinal cord.
DR MIM; 615281; phenotype.
DR MedGen; C3809008.
DR MedGen; CN176915.
DR MeSH; D009128.
DR MeSH; D020279.
//
ID Hypoparathyroidism, familial isolated, 1.
AC DI-01590
AR FIH1.
DE A form of hypoparathyroidism, a disorder characterized by hypocalcemia
DE and hyperphosphatemia due to a deficiency of parathyroid hormone.
DE Clinical features include seizures, tetany and cramps. FIH1
DE inheritance can be autosomal dominant or recessive.
DR MIM; 146200; phenotype.
DR MedGen; C1840334.
DR MeSH; D007011.
//
ID Hypoparathyroidism, familial isolated, 2.
AC DI-05841
AR FIH2.
DE An autosomal recessive form of hypoparathyroidism, a disorder
DE characterized by hypocalcemia and hyperphosphatemia due to a
DE deficiency of parathyroid hormone. Clinical features include seizures,
DE tetany and cramps.
DR MIM; 618883; phenotype.
DR MedGen; CN280929.
DR MeSH; D007011.
//
ID Hypoparathyroidism, sensorineural deafness, and renal disease.
AC DI-01792
AR HDR.
DE A disease characterized by steroid-resistant nephrosis with
DE progressive renal failure, hypoparathyroidism, sensorineural deafness,
DE and renal dysplasia.
SY Barakat syndrome.
SY Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome.
SY Nephrosis, nerve deafness, and hypoparathyroidism.
DR MIM; 146255; phenotype.
DR MedGen; C1840333.
DR MeSH; D006319.
DR MeSH; D007011.
DR MeSH; D009401.
KW KW-0209:Deafness.
//
ID Hypoparathyroidism, X-linked.
AC DI-05492
AR HYPX.
DE An X-linked form of true hypoparathyroidism characterized by neonatal
DE or infantile onset and absence of parathyroid glands. Clinical
DE features are hypocalcemia, hyperphosphatemia, seizures, tetany and
DE cramps.
DR MIM; 307700; phenotype.
DR MedGen; C0342344.
DR MeSH; D007011.
//
ID Hypoparathyroidism-retardation-dysmorphism syndrome.
AC DI-01793
AR HRDS.
DE An autosomal recessive multisystem disorder characterized by
DE hypoparathyroidism, intrauterine and postnatal growth retardation,
DE psychomotor retardation, epilepsy, microcephaly, and facial
DE dysmorphism.
SY Sanjad-Sakati syndrome.
DR MIM; 241410; phenotype.
DR MedGen; C1855840.
DR MeSH; D007011.
DR MeSH; D008607.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
//
ID Hypophosphatasia.
AC DI-01796
AR HOPS.
DE A metabolic bone disease characterized by defective skeletal
DE mineralization and biochemically by deficient activity of the tissue
DE non-specific isoenzyme of alkaline phosphatase. Four forms are
DE distinguished, depending on the age of onset: perinatal, infantile,
DE childhood and adult type. The perinatal form is the most severe and is
DE almost always fatal. The adult form is mild and characterized by
DE recurrent fractures, osteomalacia, rickets, and loss of teeth. Some
DE cases are asymptomatic, while some patients manifest dental features
DE without skeletal manifestations (odontohypophosphatasia).
SY HPPA.
SY Hypophosphatasia, adult.
SY Hypophosphatasia, mild.
DR MIM; 146300; phenotype.
DR MedGen; C0268413.
DR MedGen; C1840322.
DR MeSH; D007014.
//
ID Hypophosphatasia, childhood.
AC DI-03098
AR HPPC.
DE A bone disease characterized by defective skeletal mineralization and
DE biochemically by deficient activity of the tissue non-specific
DE isoenzyme of alkaline phosphatase.
DR MIM; 241510; phenotype.
DR MedGen; C0220743.
DR MeSH; D007014.
//
ID Hypophosphatasia, infantile.
AC DI-03099
AR HPPI.
DE A severe bone disease characterized by defective skeletal
DE mineralization and biochemically by deficient activity of the tissue
DE non-specific isoenzyme of alkaline phosphatase. Three more or less
DE distinct types of infantile hypophosphatasia can be identified: (1)
DE type 1 with onset in utero or in early postnatal life, craniostenosis,
DE severe skeletal abnormalities, hypercalcemia, and death in the first
DE year or so of life; (2) type 2 with later, more gradual development of
DE symptoms, moderately severe 'rachitic' skeletal changes and premature
DE loss of teeth; (3) type 3 with no symptoms, the condition being
DE determined on routine studies.
DR MIM; 241500; phenotype.
DR MedGen; C0268412.
DR MedGen; C2673477.
DR MeSH; D007014.
//
ID Hypophosphatemic rickets, autosomal dominant.
AC DI-01212
AR ADHR.
DE A disease characterized by isolated renal phosphate wasting,
DE hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3
DE (calcitriol) levels. Patients frequently present with bone pain,
DE rickets, and tooth abscesses.
SY Autosomal dominant hypophosphatemia.
SY Autosomal dominant vitamin D-resistant rickets.
DR MIM; 193100; phenotype.
DR MedGen; C0342642.
DR MeSH; D012279.
//
ID Hypophosphatemic rickets, autosomal recessive, 1.
AC DI-01243
AR ARHR1.
DE A hereditary form of hypophosphatemic rickets, a disorder of proximal
DE renal tubule function that causes phosphate loss, hypophosphatemia and
DE skeletal deformities, including rickets and osteomalacia unresponsive
DE to vitamin D. Symptoms are bone pain, fractures and growth
DE abnormalities.
SY ARHP.
SY Hypophosphatemia autosomal recessive.
DR MIM; 241520; phenotype.
DR MedGen; C0342643.
DR MeSH; D012279.
//
ID Hypophosphatemic rickets, autosomal recessive, 2.
AC DI-02785
AR ARHR2.
DE A hereditary form of hypophosphatemic rickets, a disorder of proximal
DE renal tubule function that causes phosphate loss, hypophosphatemia and
DE skeletal deformities, including rickets and osteomalacia unresponsive
DE to vitamin D. Symptoms are bone pain, fractures and growth
DE abnormalities.
SY Hypophosphatemia autosomal recessive.
DR MIM; 613312; phenotype.
DR MedGen; C2750078.
DR MeSH; D012279.
//
ID Hypophosphatemic rickets, X-linked dominant.
AC DI-02447
AR XLHR.
DE A disorder characterized by impaired phosphate uptake in the kidney,
DE which is likely to be caused by abnormal regulation of sodium
DE phosphate cotransport in the proximal tubules. Clinical manifestations
DE include skeletal deformities, growth failure, craniosynostosis,
DE paravertebral calcifications, pseudofractures in lower extremities,
DE and muscular hypotonia with onset in early childhood. X-linked
DE hypophosphatemic rickets is the most common form of hypophosphatemia
DE with an incidence of 1 in 20000.
SY HPDR.
SY HYP.
SY Hypophosphatemia X-linked.
SY Hypophosphatemic vitamin D-resistant rickets.
SY Vitamin D-resistant rickets X-linked.
SY XLH.
DR MIM; 307800; phenotype.
DR MedGen; C0733682.
DR MeSH; D053098.
//
ID Hypophosphatemic rickets, X-linked recessive.
AC DI-00574
AR XLRHR.
DE A renal disease belonging to the 'Dent disease complex', a group of
DE disorders characterized by proximal renal tubular defect,
DE hypercalciuria, nephrocalcinosis, and renal insufficiency. The
DE spectrum of phenotypic features is remarkably similar in the various
DE disorders, except for differences in the severity of bone deformities
DE and renal impairment. XLRH patients present with rickets or
DE osteomalacia, hypophosphatemia due to decreased renal tubular
DE phosphate reabsorption, hypercalciuria, and low molecular weight
DE proteinuria. Patients develop nephrocalcinosis with progressive renal
DE failure in adulthood. Female carriers may have asymptomatic
DE hypercalciuria or hypophosphatemia only.
DR MIM; 300554; phenotype.
DR MedGen; C1845168.
DR MeSH; D053098.
//
ID Hypopigmentation, organomegaly, and delayed myelination and development.
AC DI-05637
AR HOD.
DE An autosomal dominant pleiotropic syndrome characterized by skin and
DE hair hypopigmentation, growth and developmental delay, organomegaly
DE including enlarged liver, spleen and kidneys, delayed brain
DE myelination and developmental deficit in motor skills. Skin and liver
DE biopsies show cellular accumulation of large intracellular vacuoles.
DR MIM; 618541; phenotype.
DR MedGen; C3672352.
DR MeSH; D000015.
//
ID Hypoplasia or aplasia of tibia with polydactyly.
AC DI-04241
AR THYP.
DE An autosomal dominant disease characterized by hypoplastic or absent
DE tibia, and polydactyly.
SY Hypoplastic or aplastic tibia with polydactyly.
SY Tibia, hypoplasia or aplasia of, with polydactyly.
SY Tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia.
SY Werner mesomelic syndrome.
SY WMS.
DR MIM; 188740; phenotype.
DR MedGen; C1861099.
DR MeSH; D004480.
DR MeSH; D017689.
//
ID Hypoplastic femurs and pelvis.
AC DI-06232
AR HYPOFP.
DE An autosomal dominant disorder characterized by isolated bilateral
DE hypoplasia of the femoral and pelvic bones.
DR MIM; 619545; phenotype.
DR MedGen; CN300513.
DR MeSH; D001848.
//
ID Hypoplastic left heart syndrome 1.
AC DI-01799
AR HLHS1.
DE A syndrome due to defective development of the aorta proximal to the
DE entrance of the ductus arteriosus, and hypoplasia of the left
DE ventricle and mitral valve. As a result of the abnormal circulation,
DE the ductus arteriosus and foramen ovale are patent and the right
DE atrium, right ventricle, and pulmonary artery are enlarged.
DR MIM; 241550; phenotype.
DR MedGen; C0152101.
DR MeSH; D018636.
//
ID Hypoplastic left heart syndrome 2.
AC DI-03342
AR HLHS2.
DE A syndrome due to defective development of the aorta proximal to the
DE entrance of the ductus arteriosus, and hypoplasia of the left
DE ventricle and mitral valve. As a result of the abnormal circulation,
DE the ductus arteriosus and foramen ovale are patent and the right
DE atrium, right ventricle, and pulmonary artery are enlarged.
DR MIM; 614435; phenotype.
DR MedGen; C3280795.
DR MeSH; D018636.
//
ID Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration.
AC DI-01800
AR HARP.
DE Rare syndrome with many clinical similarities to PKAN.
DR MIM; 607236; phenotype.
DR MedGen; C1846582.
//
ID Hypospadias 1, X-linked.
AC DI-03834
AR HYSP1.
DE A common malformation in which the urethra opens on the ventral side
DE of the penis, due to developmental arrest of urethral fusion. The
DE opening can be located glandular, penile, or even more posterior in
DE the scrotum or perineum. Hypospadias is a feature of several syndromic
DE disorders, including the androgen insensitivity syndrome and Opitz
DE syndrome.
DR MIM; 300633; phenotype.
DR MedGen; C2678098.
DR MeSH; D007021.
//
ID Hypospadias 2, X-linked.
AC DI-02448
AR HYSP2.
DE A common malformation in which the urethra opens on the ventral side
DE of the penis, due to developmental arrest of urethral fusion. The
DE opening can be located glandular, penile, or even more posterior in
DE the scrotum or perineum. Hypospadias is a feature of several syndromic
DE disorders, including the androgen insensitivity syndrome and Opitz
DE syndrome.
DR MIM; 300758; phenotype.
DR MedGen; C2677879.
DR MeSH; D007021.
//
ID Hypotaurinemic retinal degeneration and cardiomyopathy.
AC DI-06123
AR HTRDC.
DE An autosomal recessive disorder characterized by low plasma taurine,
DE childhood-onset progressive retinal degeneration, and cardiomyopathy.
DR MIM; 145350; phenotype.
DR MedGen; C1840385.
DR MeSH; D009202.
DR MeSH; D012162.
KW KW-0122:Cardiomyopathy.
//
ID Hypothyroidism, central, and testicular enlargement.
AC DI-03629
AR CHTE.
DE A disorder characterized by insufficient thyroid gland stimulation by
DE thyroid stimulating hormone (TSH), resulting from hypothalamic and/or
DE pituitary dysfunction. CHTE patients have delayed testosterone
DE increase at puberty with normal testosterone levels in adulthood,
DE normal testicular volume in childhood and enlarged testicles in
DE adulthood.
DR MIM; 300888; phenotype.
DR MedGen; C3550963.
DR MedGen; CN163076.
DR MeSH; D003409.
KW KW-0984:Congenital hypothyroidism.
//
ID Hypothyroidism, congenital, non-goitrous, 1.
AC DI-00362
AR CHNG1.
DE A non-autoimmune condition characterized by resistance to thyroid-
DE stimulating hormone (TSH) leading to increased levels of plasma TSH
DE and low levels of thyroid hormone. It presents variable severity
DE depending on the completeness of the defect. Most patients are
DE euthyroid and asymptomatic, with a normal sized thyroid gland. Only a
DE subset of patients develop hypothyroidism and present a hypoplastic
DE thyroid gland.
SY Congenital hypothyroidism due to TSH resistance.
SY Hypothyroidism due to unresponsiveness to thyrotropin.
SY Non-autoimmune hypothyroidism.
SY RTSH.
SY Thyroid-stimulating hormone resistance.
SY Thyrotropin resistance.
SY TSH resistance.
DR MIM; 275200; phenotype.
DR MedGen; C2940786.
DR MedGen; C3493776.
DR MedGen; CN074268.
DR MeSH; D003409.
KW KW-0984:Congenital hypothyroidism.
//
ID Hypothyroidism, congenital, non-goitrous, 2.
AC DI-00363
AR CHNG2.
DE A disease characterized by thyroid dysgenesis, the most frequent cause
DE of congenital hypothyroidism, accounting for 85% of case. The thyroid
DE gland can be completely absent (athyreosis), ectopically located
DE and/or severely hypoplastic. Ectopic thyroid gland is the most
DE frequent malformation, with thyroid tissue being found most often at
DE the base of the tongue.
SY Athyreotic hypothyroidism.
SY Congenital hypothyroidism due to thyroid dysgenesis.
SY RTSH.
SY Thyroid dysgenesis.
SY Thyroid-stimulating hormone resistance.
SY Thyrotropin resistance.
DR MIM; 218700; phenotype.
DR MedGen; C0151516.
DR MedGen; C0749420.
DR MedGen; C1563716.
DR MedGen; C1869118.
DR MeSH; D050033.
KW KW-0984:Congenital hypothyroidism.
//
ID Hypothyroidism, congenital, non-goitrous, 5.
AC DI-01404
AR CHNG5.
DE A non-autoimmune condition characterized by resistance to thyroid-
DE stimulating hormone (TSH) leading to increased levels of plasma TSH
DE and low levels of thyroid hormone. CHNG5 presents variable severity
DE depending on the completeness of the defect. Most patients are
DE euthyroid and asymptomatic, with a normal sized thyroid gland. Only a
DE subset of patients develop hypothyroidism and present a hypoplastic
DE thyroid gland.
DR MIM; 225250; phenotype.
DR MedGen; C2673630.
DR MeSH; D003409.
KW KW-0984:Congenital hypothyroidism.
//
ID Hypothyroidism, congenital, non-goitrous, 6.
AC DI-03343
AR CHNG6.
DE A disease characterized by growth retardation, developmental
DE retardation, skeletal dysplasia, borderline low thyroxine levels and
DE high triiodothyronine levels. There is differential sensitivity to
DE thyroid hormone action, with retention of hormone responsiveness in
DE the hypothalamic pituitary axis and liver but skeletal,
DE gastrointestinal, and myocardial resistance.
DR MIM; 614450; phenotype.
DR MedGen; C3280817.
DR MeSH; D003409.
KW KW-0984:Congenital hypothyroidism.
//
ID Hypothyroidism, congenital, non-goitrous, 7.
AC DI-05659
AR CHNG7.
DE A form of central hypothyroidism, a disorder characterized by sub-
DE optimal thyroid hormone secretion, due to insufficient stimulation by
DE thyrotropin of an otherwise normal thyroid gland. It may be caused by
DE congenital or acquired disorders of the pituitary gland or
DE hypothalamus. CHNG7 is a congenital, autosomal recessive form
DE characterized by normal-to-low T4 and normal-to-high thyrotropin
DE levels, and reduced or absent pituitary responsiveness to thyrotropin-
DE releasing hormone. Patients may exhibit short stature, growth
DE retardation, and delayed bone age, as well as lethargy or fatigue.
SY Thyrotropin-releasing hormone resistance, generalized.
DR MIM; 618573; phenotype.
DR MedGen; CN262229.
DR MeSH; D003409.
KW KW-0984:Congenital hypothyroidism.
//
ID Hypothyroidism, congenital, non-goitrous, 8.
AC DI-05650
AR CHNG8.
DE A form of central hypothyroidism, a disorder characterized by sub-
DE optimal thyroid hormone secretion, due to insufficient stimulation by
DE the thyroid stimulating hormone of an otherwise normal thyroid gland.
DE It may be caused by congenital or acquired disorders of the pituitary
DE gland or hypothalamus. CHNG8 is a congenital, X-linked, relatively
DE mild form which may be accompanied by hearing loss in some patients.
DR MIM; 301033; phenotype.
DR MedGen; CN262333.
DR MeSH; D003409.
KW KW-0984:Congenital hypothyroidism.
//
ID Hypothyroidism, congenital, non-goitrous, 9.
AC DI-05651
AR CHNG9.
DE A form of central hypothyroidism, a disorder characterized by sub-
DE optimal thyroid hormone secretion, due to insufficient stimulation by
DE thyrotropin of an otherwise normal thyroid gland. It may be caused by
DE congenital or acquired disorders of the pituitary gland or
DE hypothalamus. CHNG9 is a congenital, X-linked recessive form. Patients
DE have a small thyroid gland with low free T4 levels and inappropriately
DE normal levels of thyrotropin.
DR MIM; 301035; phenotype.
DR MedGen; CN262332.
DR MeSH; D003409.
KW KW-0984:Congenital hypothyroidism.
//
ID Hypotonia, ataxia, and delayed development syndrome.
AC DI-04945
AR HADDS.
DE An autosomal dominant neurodevelopmental syndrome characterized by
DE global developmental delay, moderate to severe intellectual
DE disability, cerebellar ataxia, hypotonia, speech delay, variable
DE dysmorphic features, and genitourinary abnormalities including
DE vesicoureteric reflux.
DR MIM; 617330; phenotype.
DR MedGen; CN240505.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome.
AC DI-05219
AR HADDTS.
DE An autosomal dominant disorder characterized by delayed motor
DE development, intellectual disability, failure to thrive, hypotonia,
DE ataxia, and tooth enamel defects.
DR MIM; 617915; phenotype.
DR MedGen; CN895589.
DR MeSH; D003744.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Hypotonia, hyperventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities.
AC DI-05609
AR HIDEA.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE global developmental delay, poor or absent speech, hypotonia, variable
DE ocular movement and visual abnormalities, and respiratory
DE difficulties. Disease onset is in infancy and death due to respiratory
DE insufficiency may occur.
DR MIM; 618493; phenotype.
DR MedGen; CN260596.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Hypotonia, infantile, with psychomotor retardation.
AC DI-04614
AR IHPMR.
DE An autosomal recessive disorder characterized by congenital axial
DE hypotonia, weakness of the abducens nerve, psychomotor developmental
DE delay with brain ventriculomegaly, variable thinning of corpus
DE callosum and cardiac septal defects.
DR MIM; 616816; phenotype.
DR MedGen; CN235307.
DR MeSH; D009123.
DR MeSH; D011596.
//
ID Hypotonia, infantile, with psychomotor retardation and characteristic facies 1.
AC DI-03902
AR IHPRF1.
DE A neurodegenerative disease characterized by variable degrees of
DE hypotonia, speech impairment, intellectual disability, pyramidal
DE signs, subtle facial dysmorphism, and chronic constipation. Some
DE patients manifest neuroaxonal dystrophy, optic atrophy, unmyelinated
DE axons and spheroid bodies in tissue biopsies.
SY IHPRF.
SY Infantile neuroaxonal neurodegeneration with facial dysmophism.
SY INNFD.
DR MIM; 615419; phenotype.
DR MedGen; C3809454.
DR MedGen; CN180084.
DR MeSH; D020271.
KW KW-0523:Neurodegeneration.
//
ID Hypotonia, infantile, with psychomotor retardation and characteristic facies 2.
AC DI-04645
AR IHPRF2.
DE An autosomal recessive, neurodegenerative disease characterized by
DE severe truncal hypotonia since birth or early infancy, progressive
DE peripheral spasticity, and profound psychomotor developmental delay.
DE Some patients may have seizures.
DR MIM; 616801; phenotype.
DR MedGen; CN235179.
DR MeSH; D020271.
KW KW-0523:Neurodegeneration.
//
ID Hypotonia, infantile, with psychomotor retardation and characteristic facies 3.
AC DI-04694
AR IHPRF3.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE profound developmental disability, intellectual disability and severe
DE hypotonia. Many patients have seizures, and show brain atrophy,
DE dysgenesis of the corpus callosum and white-matter changes on
DE neuroimaging. Non-specific facial dysmorphism is noted in some
DE individuals.
DR MIM; 616900; phenotype.
DR MedGen; CN236357.
DR MeSH; D009422.
//
ID Hypotonia-cystinuria syndrome.
AC DI-01801
AR HCS.
DE Characterized generalized hypotonia at birth, nephrolithiasis, growth
DE hormone deficiency, minor facial dysmorphism, failure to thrive,
DE followed by hyperphagia and rapid weight gain in late childhood.
DR MIM; 606407; phenotype.
DR MedGen; C1848030.
//
ID Hypotrichosis 1.
AC DI-02718
AR HYPT1.
DE A rare form of non-syndromic hereditary hypotrichosis without
DE characteristic hair shaft anomalies. Affected individuals typically
DE show normal hair at birth, but hair loss and thinning of the hair
DE shaft start during early childhood and progress with age. HYPT1
DE inheritance is autosomal dominant.
SY Generalized hypothricosis simplex.
SY HHS.
SY HTS.
SY Hypotrichosis simplex.
SY Hypotrichosis simplex hereditary.
DR MIM; 605389; phenotype.
DR MedGen; C1854310.
DR MeSH; D007039.
KW KW-1063:Hypotrichosis.
//
ID Hypotrichosis 11.
AC DI-03644
AR HYPT11.
DE A form of hypotrichosis, a condition characterized by the presence of
DE less than the normal amount of hair and abnormal hair follicles and
DE shafts, which are thin and atrophic. The extent of scalp and body hair
DE involvement can be very variable, within as well as between families.
DE HYPT11 is an autosomal dominant form characterized by scanty or absent
DE eyebrows and a highly variable degree of alopecia since birth, ranging
DE from slight thinning of scalp and axillary hair to complete loss of
DE scalp and body hair. Pubic hair remains mainly unaffected.
DR MIM; 615059; phenotype.
DR MedGen; C3554409.
DR MedGen; CN165240.
DR MeSH; D007039.
KW KW-1063:Hypotrichosis.
//
ID Hypotrichosis 12.
AC DI-04148
AR HYPT12.
DE A form of hypotrichosis, a condition characterized by the presence of
DE less than the normal amount of hair and abnormal hair follicles and
DE shafts, which are thin and atrophic. The extent of scalp and body hair
DE involvement can be very variable, within as well as between families.
DE HYPT12 patients have normal scalp hair density at birth. Hair loss
DE begins during the first 6 months of life and gradually progresses to
DE nearly complete loss of scalp hair. The remaining hairs grow slowly
DE and are thin, sparse, dry, and fragile. Body hair, axillary and pubic
DE hair, eyebrows and eyelashes are also sparse or absent. HYPT12
DE inheritance is autosomal dominant.
DR MIM; 615885; phenotype.
DR MedGen; CN189719.
DR MeSH; D007039.
KW KW-1063:Hypotrichosis.
//
ID Hypotrichosis 13.
AC DI-04158
AR HYPT13.
DE A form of hypotrichosis, a condition characterized by the presence of
DE less than the normal amount of hair and abnormal hair follicles and
DE shafts, which are thin and atrophic. The extent of scalp and body hair
DE involvement can be very variable, within as well as between families.
DE HYPT13 is an autosomal dominant form characterized by sparse woolly
DE hair.
SY Hypotrichosis with woolly hair.
DR MIM; 615896; phenotype.
DR MedGen; CN196687.
DR MeSH; D007039.
KW KW-1063:Hypotrichosis.
//
ID Hypotrichosis 14.
AC DI-05448
AR HYPT14.
DE A form of hypotrichosis, a condition characterized by the presence of
DE less than the normal amount of hair and abnormal hair follicles and
DE shafts, which are thin and atrophic. The extent of scalp and body hair
DE involvement can be very variable, within as well as between families.
DE HYPT14 is an autosomal recessive form characterized by sparse to
DE absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse
DE eyelashes and body hair.
DR MIM; 618275; phenotype.
DR MedGen; CN258053.
DR MeSH; D007039.
KW KW-1063:Hypotrichosis.
//
ID Hypotrichosis 2.
AC DI-01802
AR HYPT2.
DE A condition characterized by the presence of less than the normal
DE amount of hair. Affected individuals have normal hair in early
DE childhood but experience progressive hair loss limited to the scalp
DE beginning in the middle of the first decade and almost complete
DE baldness by the third decade. Body hair, beard, eyebrows, axillary
DE hair, teeth, and nails develop normally. HYPT2 inheritance is
DE autosomal dominant.
SY HTSS1.
SY Hypotrichosis simplex of the scalp 1.
SY Hypotrichosis Spanish type.
DR MIM; 146520; phenotype.
DR MedGen; C1840299.
DR MeSH; D007039.
KW KW-1063:Hypotrichosis.
//
ID Hypotrichosis 3.
AC DI-03172
AR HYPT3.
DE A condition characterized by the presence of less than the normal
DE amount of hair. Affected individuals have normal hair in early
DE childhood but experience progressive hair loss limited to the scalp
DE beginning in the middle of the first decade and almost complete
DE baldness by the third decade. Body hair, beard, eyebrows, axillary
DE hair, teeth, and nails develop normally. HYPT3 inheritance is
DE autosomal dominant.
SY HTSS2.
SY Hypotrichosis simplex of the scalp 2.
DR MIM; 613981; phenotype.
DR MedGen; C3151432.
DR MeSH; D007039.
KW KW-1063:Hypotrichosis.
//
ID Hypotrichosis 4.
AC DI-02514
AR HYPT4.
DE An autosomal dominant condition characterized by reduced amount of
DE hair, alopecia, little or no eyebrows, eyelashes or body hair, and
DE coarse, wiry, twisted hair in early childhood.
SY Hypotrichosis Marie Unna 1.
SY Marie Unna hereditary hypotrichosis type 1.
SY MUHH1.
DR MIM; 146550; phenotype.
DR MedGen; C2750815.
DR MeSH; D007039.
KW KW-1063:Hypotrichosis.
//
ID Hypotrichosis 5.
AC DI-05779
AR HYPT5.
DE A form of hypotrichosis, a condition characterized by the presence of
DE less than the normal amount of hair and abnormal hair follicles and
DE shafts, which are thin and atrophic. The extent of scalp and body hair
DE involvement can be very variable, within as well as between families.
DE HYPT5 is an autosomal dominant form characterized by little or no
DE scalp hair at birth, wiry and irregular scalp hair in childhood, and
DE sparse or no forehead and parietal hair at puberty. Eyebrows and
DE eyelashes are thin, and pubic and axillary hair fails to develop.
DE Scarring alopecia is modest, and vertex hair is normal.
SY Marie Unna hereditary hypotrichosis 2.
SY MUHH2.
DR MIM; 612841; phenotype.
DR MedGen; C2748535.
DR MeSH; D007039.
KW KW-1063:Hypotrichosis.
//
ID Hypotrichosis 6.
AC DI-01912
AR HYPT6.
DE A condition characterized by the presence of less than the normal
DE amount of hair and abnormal hair follicles and shafts, which are thin
DE and atrophic. The disorder affects the trunk and extremities as well
DE as the scalp, and the eyebrows and eyelashes may also be involved,
DE whereas beard, pubic, and axillary hairs are largely spared. In
DE addition, patients can develop hyperkeratotic follicular papules,
DE erythema, and pruritus in affected areas. In some patients with
DE congenital hypotrichosis, monilethrix-like hairs showing elliptical
DE nodes have been observed. HYPT6 inheritance is autosomal recessive.
SY HTL.
SY Hypotrichosis localized autosomal recessive.
SY Hypotrichosis localized autosomal recessive 1.
SY LAH.
SY LAH1.
SY Monilethrix-like hypotrichosis.
DR MIM; 607903; phenotype.
DR MedGen; C1842839.
DR MedGen; C3149410.
DR MeSH; D007039.
KW KW-1063:Hypotrichosis.
//
ID Hypotrichosis 7.
AC DI-01177
AR HYPT7.
DE A condition characterized by the presence of less than the normal
DE amount of hair. Affected individuals have sparse or absent scalp,
DE axillary and body hair and sparse eyebrows and eyelashes. HYPT7
DE inheritance is autosomal recessive.
SY AH.
SY Alopecia universalis congenita Mari type.
SY Hypotrichosis autosomal recessive.
SY Hypotrichosis localized autosomal recessive 2.
SY LAH2.
SY Total hypotrichosis Mari type.
DR MIM; 604379; phenotype.
DR MedGen; C1836672.
DR MeSH; D007039.
KW KW-1063:Hypotrichosis.
//
ID Hypotrichosis 8.
AC DI-01913
AR HYPT8.
DE A condition characterized by the presence of less than the normal
DE amount of hair and abnormal hair follicles and shafts, which are thin
DE and atrophic. The disorder affects the trunk and extremities as well
DE as the scalp, and the eyebrows and eyelashes may also be involved,
DE whereas beard, pubic, and axillary hairs are largely spared. In
DE addition, patients can develop hyperkeratotic follicular papules,
DE erythema, and pruritus in affected areas. In some patients with
DE congenital hypotrichosis, monilethrix-like hairs showing elliptical
DE nodes have been observed. HYPT8 inheritance is autosomal recessive.
SY Hypotrichosis localized autosomal recessive 3.
SY LAH3.
DR MIM; 278150; phenotype.
DR MedGen; C1848435.
DR MeSH; D007039.
KW KW-1063:Hypotrichosis.
//
ID Hypotrichosis and recurrent skin vesicles.
AC DI-02555
AR HRSV.
DE A disorder characterized by hypotrichosis and the appearance of
DE recurrent skin vesicle formation. Affected individuals show sparse and
DE fragile hair on scalp, as well as absent eyebrows and eyelashes.
DE Vesicles filled with thin, watery fluid are observed on the scalp and
DE skin of most of the body. Mucosal vesicles are absent.
DR MIM; 613102; phenotype.
DR MedGen; C2751292.
DR MeSH; D007039.
KW KW-1063:Hypotrichosis.
//
ID Hypotrichosis congenital with juvenile macular dystrophy.
AC DI-01803
AR HJMD.
DE A disorder characterized by congenital hypotrichosis, early hair loss,
DE and severe degenerative changes of the retinal macula that culminate
DE in blindness during the second to third decade of life.
SY Hypotrichosis with cone-rod dystrophy.
DR MIM; 601553; phenotype.
DR MedGen; C1832162.
DR MeSH; D007039.
KW KW-1063:Hypotrichosis.
//
ID Hypotrichosis-lymphedema-telangiectasia syndrome.
AC DI-01804
AR HLTS.
DE A syndrome characterized by absent eyebrows and eyelashes, lymphatic
DE edemas of the inferior members or eyelids, and peripheral vein
DE anomalies.
DR MIM; 607823; phenotype.
DR MedGen; C1843004.
DR MeSH; D007039.
DR MeSH; D008209.
DR MeSH; D013684.
KW KW-1063:Hypotrichosis.
//
ID Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome.
AC DI-04465
AR HLTRS.
DE A syndrome characterized by sparse hair, lymphatic edemas, peripheral
DE vein anomalies, and renal disease.
SY Glomerulonephritis with sparse hair and telangiectases.
SY Telangiectatic membranoproliferative glomerulonephritis.
DR MIM; 137940; phenotype.
DR MedGen; C1841989.
DR MeSH; D005921.
DR MeSH; D007039.
DR MeSH; D008209.
DR MeSH; D013684.
KW KW-1063:Hypotrichosis.
//
ID Hypouricemia renal 1.
AC DI-02256
AR RHUC1.
DE A disorder characterized by impaired uric acid reabsorption at the
DE apical membrane of proximal renal tubule cells, and high urinary urate
DE excretion. Patients often appear asymptomatic, but may be subject to
DE exercise-induced acute renal failure, chronic renal dysfunction and
DE nephrolithiasis.
SY Dalmatian hypouricemia.
SY Renal hypouricemia.
DR MIM; 220150; phenotype.
DR MedGen; C0473219.
DR MeSH; D015499.
//
ID Hypouricemia renal 2.
AC DI-03137
AR RHUC2.
DE A disorder characterized by impaired uric acid reabsorption at the
DE apical membrane of proximal renal tubule cells, and high urinary urate
DE excretion. Patients often appear asymptomatic, but may be subject to
DE exercise-induced acute renal failure, chronic renal dysfunction and
DE nephrolithiasis.
DR MIM; 612076; phenotype.
DR MedGen; C2677549.
DR MedGen; C2677550.
DR MedGen; C2677551.
DR MeSH; D015499.
//
ID Ichthyosis annular epidermolytic.
AC DI-00580
AR AEI.
DE A skin disorder resembling bullous congenital ichthyosiform
DE erythroderma. Affected individuals present with bullous ichthyosis in
DE early childhood and hyperkeratotic lichenified plaques in the flexural
DE areas and extensor surfaces at later ages. The feature that
DE distinguishes AEI from BCIE is dramatic episodes of flares of annular
DE polycyclic plaques with scale, which coalesce to involve most of the
DE body surface and can persist for several weeks or even months.
SY Annular ichthyosis variant of BCIE.
SY Cyclic ichthyosis with epidermolytic hyperkeratosis.
DR MIM; 607602; phenotype.
DR MedGen; C1843463.
DR MeSH; D007057.
KW KW-0977:Ichthyosis.
//
ID Ichthyosis bullosa of Siemens.
AC DI-00582
AR IBS.
DE A rare autosomal dominant skin disorder displaying a type of
DE epidermolytic hyperkeratosis characterized by generalized erythema and
DE extensive blistering from birth. Large, dark gray hyperkeratoses are
DE observed in later weeks. The skin of IBS patients is unusually fragile
DE and has a tendency to shed the outer layers of the epidermis,
DE producing localized denuded areas (molting effect). IBS usually
DE improves with age so that in most middle-aged patients the
DE hyperkeratosis and keratotic lichenification is limited to the
DE flexural folds of the major joints.
SY Ichthyosis bullous type.
DR MIM; 146800; phenotype.
DR MedGen; C0432306.
DR MedGen; C1838440.
DR MeSH; D053560.
KW KW-0977:Ichthyosis.
//
ID Ichthyosis hystrix, Curth-Macklin type.
AC DI-00585
AR IHCM.
DE A genodermatosis with severe verrucous hyperkeratosis. Affected
DE individuals manifest congenital verrucous black scale on the scalp,
DE neck, and limbs with truncal erythema, palmoplantar keratoderma and
DE keratoses on the lips, ears, nipples and buttocks.
DR MIM; 146590; phenotype.
DR MedGen; C1840296.
DR MeSH; D007057.
KW KW-0977:Ichthyosis.
KW KW-1007:Palmoplantar keratoderma.
//
ID Ichthyosis hystrix-like with deafness syndrome.
AC DI-00586
AR HID syndrome.
DE An autosomal dominant keratinizing disorder characterized by
DE sensorineural deafness and spiky hyperkeratosis affecting the entire
DE skin. HID syndrome is considered to differ from the similar KID
DE syndrome in the extent and time of occurrence of skin symptoms and the
DE severity of the associated keratitis.
DR MIM; 602540; phenotype.
DR MedGen; C1865234.
DR MeSH; D006319.
DR MeSH; D007057.
KW KW-0209:Deafness.
KW KW-0977:Ichthyosis.
//
ID Ichthyosis prematurity syndrome.
AC DI-02593
AR IPS.
DE A keratinization disorder characterized by complications in the second
DE trimester of pregnancy resulting from polyhydramnion, with premature
DE birth of a child with thick caseous desquamating epidermis,
DE respiratory complications and transient eosinophilia. After recovery
DE during the first months of life, the symptoms are relatively benign
DE and the patients suffer from a lifelong non-scaly ichthyosis with
DE atopic manifestations.
SY Ichthyosis congenita IV.
DR MIM; 608649; phenotype.
DR MedGen; C1837610.
DR MeSH; D007057.
KW KW-0977:Ichthyosis.
//
ID Ichthyosis vulgaris.
AC DI-00591
AR VI.
DE The most common form of ichthyosis inherited as an autosomal dominant
DE trait. It is characterized by palmar hyperlinearity, keratosis pilaris
DE and a fine scale that is most prominent over the lower abdomen, arms,
DE and legs. Ichthyosis vulgaris is characterized histologically by
DE absent or reduced keratohyalin granules in the epidermis and mild
DE hyperkeratosis. The disease can be associated with frequent asthma,
DE eczema or hay fever.
SY Ichthyosis simplex.
DR MIM; 146700; phenotype.
DR MedGen; C0079584.
DR MeSH; D016112.
KW KW-0977:Ichthyosis.
//
ID Ichthyosis, congenital, autosomal recessive 1.
AC DI-01230
AR ARCI1.
DE A form of autosomal recessive congenital ichthyosis, a disorder of
DE keratinization with abnormal differentiation and desquamation of the
DE epidermis, resulting in abnormal skin scaling over the whole body. The
DE main skin phenotypes are lamellar ichthyosis (LI) and non-bullous
DE congenital ichthyosiform erythroderma (NCIE), although phenotypic
DE overlap within the same patient or among patients from the same family
DE can occur. Lamellar ichthyosis is a condition often associated with an
DE embedment in a collodion-like membrane at birth; skin scales later
DE develop, covering the entire body surface. Non-bullous congenital
DE ichthyosiform erythroderma characterized by fine whitish scaling on an
DE erythrodermal background; larger brownish scales are present on the
DE buttocks, neck and legs.
SY Autosomal recessive congenital ichthyosis 1 with bathing suit distribution.
SY Autosomal recessive congenital ichthyosis TGM1-related.
SY Collodion fetus.
SY Desquamation of newborn.
SY Ichthyosis congenita.
SY Ichthyosis congenita II.
SY ICR2.
SY Lamellar exfoliation of newborn.
SY Lamellar ichthyosis 1.
SY LI1.
SY Non-erythrodermic ichthyosis.
SY Self-healing collodion baby.
SY SHCB.
DR MIM; 242300; phenotype.
DR MedGen; C3536797.
DR MeSH; D017490.
KW KW-0977:Ichthyosis.
//
ID Ichthyosis, congenital, autosomal recessive 10.
AC DI-03671
AR ARCI10.
DE A form of autosomal recessive congenital ichthyosis, a disorder of
DE keratinization with abnormal differentiation and desquamation of the
DE epidermis, resulting in abnormal skin scaling over the whole body. The
DE main skin phenotypes are lamellar ichthyosis (LI) and non-bullous
DE congenital ichthyosiform erythroderma (NCIE), although phenotypic
DE overlap within the same patient or among patients from the same family
DE can occur. Lamellar ichthyosis is a condition often associated with an
DE embedment in a collodion-like membrane at birth; skin scales later
DE develop, covering the entire body surface. Non-bullous congenital
DE ichthyosiform erythroderma characterized by fine whitish scaling on an
DE erythrodermal background; larger brownish scales are present on the
DE buttocks, neck and legs.
DR MIM; 615024; phenotype.
DR MedGen; C3554355.
DR MedGen; CN164582.
DR MeSH; D017490.
KW KW-0977:Ichthyosis.
//
ID Ichthyosis, congenital, autosomal recessive 11.
AC DI-04098
AR ARCI11.
DE A form of autosomal recessive congenital ichthyosis, a disorder of
DE keratinization with abnormal differentiation and desquamation of the
DE epidermis, resulting in abnormal skin scaling over the whole body. The
DE main skin phenotypes are lamellar ichthyosis (LI) and non-bullous
DE congenital ichthyosiform erythroderma (NCIE), although phenotypic
DE overlap within the same patient or among patients from the same family
DE can occur. Lamellar ichthyosis is a condition often associated with an
DE embedment in a collodion-like membrane at birth; skin scales later
DE develop, covering the entire body surface. Non-bullous congenital
DE ichthyosiform erythroderma characterized by fine whitish scaling on an
DE erythrodermal background; larger brownish scales are present on the
DE buttocks, neck and legs.
SY ARIH.
SY Autosomal recessive ichthyosis with hypotrichosis.
SY Ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis.
SY IFAH.
DR MIM; 602400; phenotype.
DR MedGen; C1865595.
DR MeSH; D017490.
KW KW-0977:Ichthyosis.
KW KW-1063:Hypotrichosis.
//
ID Ichthyosis, congenital, autosomal recessive 12.
AC DI-04921
AR ARCI12.
DE A form of autosomal recessive congenital ichthyosis, a disorder of
DE keratinization with abnormal differentiation and desquamation of the
DE epidermis, resulting in abnormal skin scaling over the whole body. The
DE main skin phenotypes are lamellar ichthyosis (LI) and non-bullous
DE congenital ichthyosiform erythroderma (NCIE), although phenotypic
DE overlap within the same patient or among patients from the same family
DE can occur. Lamellar ichthyosis is a condition often associated with an
DE embedment in a collodion-like membrane at birth; skin scales later
DE develop, covering the entire body surface. Non-bullous congenital
DE ichthyosiform erythroderma characterized by fine whitish scaling on an
DE erythrodermal background; larger brownish scales are present on the
DE buttocks, neck and legs.
DR MIM; 617320; phenotype.
DR MedGen; CN240372.
DR MeSH; D017490.
KW KW-0977:Ichthyosis.
//
ID Ichthyosis, congenital, autosomal recessive 13.
AC DI-05041
AR ARCI13.
DE A form of autosomal recessive congenital ichthyosis, a disorder of
DE keratinization with abnormal differentiation and desquamation of the
DE epidermis, resulting in abnormal skin scaling over the whole body. The
DE main skin phenotypes are lamellar ichthyosis (LI) and non-bullous
DE congenital ichthyosiform erythroderma (NCIE), although phenotypic
DE overlap within the same patient or among patients from the same family
DE can occur. Lamellar ichthyosis is a condition often associated with an
DE embedment in a collodion-like membrane at birth; skin scales later
DE develop, covering the entire body surface. Non-bullous congenital
DE ichthyosiform erythroderma characterized by fine whitish scaling on an
DE erythrodermal background; larger brownish scales are present on the
DE buttocks, neck and legs.
DR MIM; 617574; phenotype.
DR MedGen; CN321864.
DR MeSH; D017490.
KW KW-0977:Ichthyosis.
//
ID Ichthyosis, congenital, autosomal recessive 14.
AC DI-05040
AR ARCI14.
DE A form of autosomal recessive congenital ichthyosis, a disorder of
DE keratinization with abnormal differentiation and desquamation of the
DE epidermis, resulting in abnormal skin scaling over the whole body. The
DE main skin phenotypes are lamellar ichthyosis (LI) and non-bullous
DE congenital ichthyosiform erythroderma (NCIE), although phenotypic
DE overlap within the same patient or among patients from the same family
DE can occur. Lamellar ichthyosis is a condition often associated with an
DE embedment in a collodion-like membrane at birth; skin scales later
DE develop, covering the entire body surface. Non-bullous congenital
DE ichthyosiform erythroderma characterized by fine whitish scaling on an
DE erythrodermal background; larger brownish scales are present on the
DE buttocks, neck and legs.
DR MIM; 617571; phenotype.
DR MedGen; CN317536.
DR MeSH; D017490.
KW KW-0977:Ichthyosis.
//
ID Ichthyosis, congenital, autosomal recessive 2.
AC DI-00822
AR ARCI2.
DE A form of autosomal recessive congenital ichthyosis, a disorder of
DE keratinization with abnormal differentiation and desquamation of the
DE epidermis, resulting in abnormal skin scaling over the whole body. The
DE main skin phenotypes are lamellar ichthyosis (LI) and non-bullous
DE congenital ichthyosiform erythroderma (NCIE), although phenotypic
DE overlap within the same patient or among patients from the same family
DE can occur. Lamellar ichthyosis is a condition often associated with an
DE embedment in a collodion-like membrane at birth; skin scales later
DE develop, covering the entire body surface. Non-bullous congenital
DE ichthyosiform erythroderma characterized by fine whitish scaling on an
DE erythrodermal background; larger brownish scales are present on the
DE buttocks, neck and legs.
SY CIE.
SY Ichthyosiform erythroderma, congenital.
SY Ichthyosiform erythroderma Brocq congenital non-bullous form.
SY IECN1.
SY NCIE1.
SY Non-bullous congenital ichthyosiform erythroderma type 1.
SY Self-healing collodion baby.
DR MIM; 242100; phenotype.
DR MedGen; C1855792.
DR MeSH; D017490.
KW KW-0977:Ichthyosis.
//
ID Ichthyosis, congenital, autosomal recessive 3.
AC DI-03670
AR ARCI3.
DE A form of autosomal recessive congenital ichthyosis, a disorder of
DE keratinization with abnormal differentiation and desquamation of the
DE epidermis, resulting in abnormal skin scaling over the whole body. The
DE main skin phenotypes are lamellar ichthyosis (LI) and non-bullous
DE congenital ichthyosiform erythroderma (NCIE), although phenotypic
DE overlap within the same patient or among patients from the same family
DE can occur. Lamellar ichthyosis is a condition often associated with an
DE embedment in a collodion-like membrane at birth; skin scales later
DE develop, covering the entire body surface. Non-bullous congenital
DE ichthyosiform erythroderma characterized by fine whitish scaling on an
DE erythrodermal background; larger brownish scales are present on the
DE buttocks, neck and legs.
SY Lamellar ichthyosis 5.
SY LI5.
SY Self-healing collodion baby.
DR MIM; 606545; phenotype.
DR MedGen; C1847849.
DR MedGen; C3539888.
DR MeSH; D017490.
KW KW-0977:Ichthyosis.
//
ID Ichthyosis, congenital, autosomal recessive 4A.
AC DI-00588
AR ARCI4A.
DE A form of autosomal recessive congenital ichthyosis, a disorder of
DE keratinization with abnormal differentiation and desquamation of the
DE epidermis, resulting in abnormal skin scaling over the whole body. The
DE main skin phenotypes are lamellar ichthyosis (LI) and non-bullous
DE congenital ichthyosiform erythroderma (NCIE), although phenotypic
DE overlap within the same patient or among patients from the same family
DE can occur. Lamellar ichthyosis is a condition often associated with an
DE embedment in a collodion-like membrane at birth; skin scales later
DE develop, covering the entire body surface. Non-bullous congenital
DE ichthyosiform erythroderma characterized by fine whitish scaling on an
DE erythrodermal background; larger brownish scales are present on the
DE buttocks, neck and legs.
SY Ichthyosis congenita IIB.
SY ICR2B.
SY Lamellar ichthyosis 2.
SY LI2.
DR MIM; 601277; phenotype.
DR MedGen; C1832550.
DR MeSH; D017490.
KW KW-0977:Ichthyosis.
//
ID Ichthyosis, congenital, autosomal recessive 4B.
AC DI-00584
AR ARCI4B.
DE A rare, very severe form of congenital ichthyosis, in which the
DE neonate is born with a thick covering of armor-like scales. The skin
DE dries out to form hard diamond-shaped plaques separated by fissures,
DE resembling 'armor plating'. The normal facial features are severely
DE affected, with distortion of the lips (eclabion), eyelids (ectropion),
DE ears, and nostrils. Affected babies are often born prematurely and
DE rarely survive the perinatal period. Babies who survive into infancy
DE and beyond develop skin changes resembling severe non-bullous
DE congenital ichthyosiform erythroderma.
SY Harlequin fetus.
SY Harlequin ichthyosis.
SY HI.
SY Ichthyosis congenita harlequin fetus type.
DR MIM; 242500; phenotype.
DR MedGen; C0239849.
DR MedGen; C0598226.
DR MeSH; D017490.
KW KW-0977:Ichthyosis.
//
ID Ichthyosis, congenital, autosomal recessive 5.
AC DI-00589
AR ARCI5.
DE A form of autosomal recessive congenital ichthyosis, a disorder of
DE keratinization with abnormal differentiation and desquamation of the
DE epidermis, resulting in abnormal skin scaling over the whole body. The
DE main skin phenotypes are lamellar ichthyosis (LI) and non-bullous
DE congenital ichthyosiform erythroderma (NCIE), although phenotypic
DE overlap within the same patient or among patients from the same family
DE can occur. Lamellar ichthyosis is a condition often associated with an
DE embedment in a collodion-like membrane at birth; skin scales later
DE develop, covering the entire body surface. Non-bullous congenital
DE ichthyosiform erythroderma characterized by fine whitish scaling on an
DE erythrodermal background; larger brownish scales are present on the
DE buttocks, neck and legs.
SY Ichthyosis congenita III.
SY Lamellar ichthyosis 3.
SY LI3.
SY NNCI.
SY Non-lamellar and non-erythrodermic congenital autosomal recessive ichthyosis.
DR MIM; 604777; phenotype.
DR MedGen; C1858133.
DR MedGen; C1858142.
DR MeSH; D017490.
KW KW-0977:Ichthyosis.
//
ID Ichthyosis, congenital, autosomal recessive 6.
AC DI-00583
AR ARCI6.
DE A form of autosomal recessive congenital ichthyosis, a disorder of
DE keratinization with abnormal differentiation and desquamation of the
DE epidermis, resulting in abnormal skin scaling over the whole body. The
DE main skin phenotypes are lamellar ichthyosis (LI) and non-bullous
DE congenital ichthyosiform erythroderma (NCIE), although phenotypic
DE overlap within the same patient or among patients from the same family
DE can occur. Lamellar ichthyosis is a condition often associated with an
DE embedment in a collodion-like membrane at birth; skin scales later
DE develop, covering the entire body surface. Non-bullous congenital
DE ichthyosiform erythroderma characterized by fine whitish scaling on an
DE erythrodermal background; larger brownish scales are present on the
DE buttocks, neck and legs.
SY Ichthyosis, congenital, autosomal recessive, ichthyin-related.
SY Ichthyosis, congenital, autosomal recessive, NIPAL4-related.
SY Ichthyosis congenital autosomal recessive.
DR MIM; 612281; phenotype.
DR MedGen; C2677065.
DR MeSH; D017490.
KW KW-0977:Ichthyosis.
//
ID Ichthyosis, congenital, autosomal recessive 8.
AC DI-03085
AR ARCI8.
DE A form of autosomal recessive congenital ichthyosis, a disorder of
DE keratinization with abnormal differentiation and desquamation of the
DE epidermis, resulting in abnormal skin scaling over the whole body. The
DE main skin phenotypes are lamellar ichthyosis (LI) and non-bullous
DE congenital ichthyosiform erythroderma (NCIE), although phenotypic
DE overlap within the same patient or among patients from the same family
DE can occur. Lamellar ichthyosis is a condition often associated with an
DE embedment in a collodion-like membrane at birth; skin scales later
DE develop, covering the entire body surface. Non-bullous congenital
DE ichthyosiform erythroderma characterized by fine whitish scaling on an
DE erythrodermal background; larger brownish scales are present on the
DE buttocks, neck and legs.
SY Lamellar ichthyosis 4.
SY Late-onset lamellar ichthyosis.
SY LI4.
DR MIM; 613943; phenotype.
DR MedGen; C3151377.
DR MedGen; C3553029.
DR MeSH; D017490.
KW KW-0977:Ichthyosis.
//
ID Ichthyosis, congenital, autosomal recessive 9.
AC DI-03828
AR ARCI9.
DE A form of autosomal recessive congenital ichthyosis, a disorder of
DE keratinization with abnormal differentiation and desquamation of the
DE epidermis, resulting in abnormal skin scaling over the whole body. The
DE main skin phenotypes are lamellar ichthyosis (LI) and non-bullous
DE congenital ichthyosiform erythroderma (NCIE), although phenotypic
DE overlap within the same patient or among patients from the same family
DE can occur. Lamellar ichthyosis is a condition often associated with an
DE embedment in a collodion-like membrane at birth; skin scales later
DE develop, covering the entire body surface. Non-bullous congenital
DE ichthyosiform erythroderma characterized by fine whitish scaling on an
DE erythrodermal background; larger brownish scales are present on the
DE buttocks, neck and legs.
DR MIM; 615023; phenotype.
DR MedGen; C3554349.
DR MedGen; CN164581.
DR MeSH; D017490.
KW KW-0977:Ichthyosis.
//
ID Ichthyosis, lamellar, autosomal dominant.
AC DI-05901
AR ADLI.
DE An autosomal dominant form of ichthyosis, a disorder of keratinization
DE with abnormal differentiation and desquamation of the epidermis,
DE resulting in abnormal skin scaling. ADLI is characterized by onset at
DE birth or within the first months of life, skin scaling on the entire
DE body with relative sparing of face, anterior chest, and abdomen, and
DE palmoplantar keratoderma. Patients may manifest mild erythema and
DE moderate pruritus.
SY Lamellar ichthyosis, autosomal dominant.
DR MIM; 146750; phenotype.
DR MedGen; C0432304.
DR MeSH; D007057.
KW KW-0977:Ichthyosis.
//
ID Ichthyosis, spastic quadriplegia, and intellectual disability.
AC DI-03376
AR ISQMR.
DE A severe autosomal recessive disorder characterized by ichthyosis
DE apparent from birth, profound psychomotor retardation with essentially
DE no development, spastic quadriplegia, and seizures.
DR MIM; 614457; phenotype.
DR MedGen; C3280856.
DR MeSH; D007057.
DR MeSH; D008607.
DR MeSH; D010264.
KW KW-0977:Ichthyosis.
KW KW-0991:Intellectual disability.
//
ID Ichthyosis, X-linked.
AC DI-00592
AR IXL.
DE A keratinization disorder manifesting with mild erythroderma and
DE generalized exfoliation of the skin within a few weeks after birth.
DE Affected boys later develop large, polygonal, dark brown scales,
DE especially on the neck, extremities, trunk, and buttocks.
SY Placental steroid sulfatase deficiency.
SY Steroid sulfatase deficiency.
DR MIM; 308100; phenotype.
DR MedGen; C0079588.
DR MedGen; C2677713.
DR MedGen; C2717836.
DR MedGen; C2720163.
DR MeSH; D016114.
KW KW-0977:Ichthyosis.
//
ID Ichthyosis-sclerosing cholangitis neonatal syndrome.
AC DI-00590
AR NISCH.
DE A rare autosomal recessive complex ichthyosis syndrome characterized
DE by scalp hypotrichosis, scarring alopecia, mild diffuse ichthyosis,
DE sclerosing cholangitis and leukocyte vacuolization.
SY Ichthyosis with leukocyte vacuoles, alopecia and sclerosing cholangitis.
SY ILVASC.
SY NISCH syndrome.
DR MIM; 607626; phenotype.
DR MedGen; C1843355.
DR MeSH; D007057.
KW KW-0977:Ichthyosis.
//
ID Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies.
AC DI-05630
AR IKSHD.
DE An autosomal dominant disease characterized by ichthyosis due to
DE epidermal hyperproliferation and increased keratinisation,
DE hypomyelination of the central white matter, spastic paraplegia,
DE central nystagmus, optic atrophy, reduction of peripheral vision and
DE visual acuity, and dysmorphic facial features.
DR MIM; 618527; phenotype.
DR MedGen; CN262178.
DR MeSH; D007057.
DR MeSH; D009422.
KW KW-0977:Ichthyosis.
//
ID Idiopathic scoliosis 3.
AC DI-02881
AR IS3.
DE An abnormality of the vertebral column in which patients develop
DE lateral curvature of the spine of at least 10 degrees.
DR MIM; 608765; phenotype.
DR MedGen; C1837461.
DR MeSH; D012600.
//
ID IFAP syndrome 1, with or without Bresheck syndrome.
AC DI-02540
AR IFAP1.
DE An X-linked syndrome characterized by a peculiar triad of follicular
DE ichthyosis, total or subtotal atrichia, and photophobia of varying
DE degree. Histopathologically, the epidermal granular layer is generally
DE well-preserved or thickened at the infundibulum. Hair follicles are
DE poorly developed and tend to be surrounded by an inflammatory
DE infiltrate. A subgroup of patients is described with lamellar rather
DE than follicular ichthyosis. Non-consistent features may include growth
DE and psychomotor retardation, aganglionic megacolon, seizures and nail
DE dystrophy.
SY Ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia.
SY Ichthyosis follicularis-atrichia-photophobia syndrome.
DR MIM; 308205; phenotype.
DR MedGen; C1839988.
DR MedGen; C3275579.
DR MeSH; D000505.
DR MeSH; D007057.
DR MeSH; D020795.
KW KW-0977:Ichthyosis.
//
ID IFAP syndrome 2.
AC DI-05917
AR IFAP2.
DE An autosomal dominant form of IFAP syndrome, a disease characterized
DE by a peculiar triad of follicular ichthyosis, total or subtotal
DE atrichia, and photophobia of varying degree. IFAP2 patients manifest
DE ichthyosis follicularis or follicular hyperkeratosis, hyperkeratotic
DE plaques, sparse to no body hair, and photophobia with punctate corneal
DE epithelial defects, corneal pannus, and complicated cataract.
DE Ultrastructural hair analysis shows trichorrhexis nodosa.
DR MIM; 619016; phenotype.
DR MedGen; CN283356.
DR MeSH; D000505.
DR MeSH; D007057.
DR MeSH; D020795.
KW KW-0977:Ichthyosis.
//
ID IgA nephropathy.
AC DI-01809
AR IgAN.
DE Most common primary glomerulonephritis, which is partly due to
DE aberrant or incomplete galactosylation of IgA1 molecules.
DR MIM; 161950; phenotype.
DR MedGen; C0017661.
DR MedGen; C3160719.
//
ID IgA nephropathy 3.
AC DI-04653
AR IGAN3.
DE A form of IgA nephropathy, a common primary glomerulonephritis
DE characterized by glomerular sclerosis, interstitial fibrosis, and
DE mesangial glomerular deposits of immunoglobulin A and immunoglobulin G
DE visible on renal biopsies. IgA nephropathy is associated with renal
DE insufficiency that can progress to end-stage renal disease.
DE Proteinuria and hematuria are characteristic clinical presentations.
DR MIM; 616818; phenotype.
DR MedGen; CN235210.
DR MeSH; D005922.
//
ID Imagawa-Matsumoto syndrome.
AC DI-05768
AR IMMAS.
DE An autosomal dominant syndrome characterized by generalized
DE overgrowth, dysmorphic features, musculoskeletal abnormalities,
DE developmental delay and intellectual disability. Some patients have
DE genitourinary and structural brain abnormalities.
DR MIM; 618786; phenotype.
DR MedGen; CN263292.
DR MeSH; D000015.
KW KW-0991:Intellectual disability.
//
ID Imerslund-Grasbeck syndrome 1.
AC DI-02246
AR IGS1.
DE A form of Imerslund-Grasbeck syndrome, a rare autosomal recessive
DE disorder characterized by vitamin B12 deficiency commonly resulting in
DE megaloblastic anemia, which is responsive to parenteral vitamin B12
DE therapy and appears in infancy or early childhood. Clinical
DE manifestations include failure to thrive, infections and neurological
DE damage. Mild proteinuria, with no signs of kidney disease, is present
DE in about half of the patients.
SY Defect of enterocyte intrinsic factor receptor.
SY Enterocyte cobalamin malabsorption.
SY Megaloblastic anemia, Finnish type.
SY Megaloblastic anemia 1.
SY MGA1.
SY Pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin B12, with proteinuria.
DR MIM; 261100; phenotype.
DR MedGen; C1306856.
DR MeSH; D000749.
//
ID Imerslund-Grasbeck syndrome 2.
AC DI-05840
AR IGS2.
DE A form of Imerslund-Grasbeck syndrome, a rare autosomal recessive
DE disorder characterized by vitamin B12 deficiency commonly resulting in
DE megaloblastic anemia, which is responsive to parenteral vitamin B12
DE therapy and appears in infancy or early childhood. Clinical
DE manifestations include failure to thrive, infections and neurological
DE damage. Mild proteinuria, with no signs of kidney disease, is present
DE in about half of the patients.
SY Megaloblastic anemia, Norwegian type.
DR MIM; 618882; phenotype.
DR MedGen; CN280935.
DR MeSH; D000749.
//
ID Iminoglycinuria.
AC DI-02940
AR IG.
DE A disorder of renal tubular reabsorption of glycine and imino acids
DE (proline and hydroxyproline), marked by excessive levels of all three
DE substances in the urine.
DR MIM; 242600; phenotype.
DR MedGen; C0268654.
DR MeSH; D000608.
//
ID Immune dysregulation and systemic hyperinflammation syndrome.
AC DI-05904
AR IMDYSHI.
DE An autosomal recessive disorder characterized by systemic
DE hyperinflammation in the absence of an infectious agent or autoimmune
DE trigger. Features include lymphadenopathy, hepatosplenomegaly,
DE recurrent fever, and laboratory evidence of immune dysregulation with
DE abnormal immune cell populations and increased serum levels of
DE inflammatory cytokines.
SY FHL6.
SY Hemophagocytic lymphohistiocytosis, familial, 6.
DR MIM; 618998; phenotype.
DR MedGen; CN283343.
DR MeSH; D051359.
//
ID Immunodeficiency 10.
AC DI-02551
AR IMD10.
DE An immune disorder characterized by recurrent infections, impaired
DE activation and proliferative response of T-cells, decreased T-cell
DE production of cytokines, lymphadenopathy, and normal lymphocytes
DE counts and serum immunoglobulin levels. Additional features include
DE thrombocytopenia, autoimmune hemolytic anemia, myopathy, partial iris
DE hypoplasia, hepatosplenomegaly and defective enamel dentition.
SY Immune dysfunction with T-cell inactivation due to calcium entry defect 2.
SY STIM1 deficiency.
DR MIM; 612783; phenotype.
DR MedGen; C2748557.
DR MeSH; D007153.
//
ID Immunodeficiency 11 A.
AC DI-03761
AR IMD11A.
DE An autosomal recessive primary immunodeficiency characterized by
DE normal numbers of T and B-lymphocytes, but defective intracellular
DE signaling. There is a block in B-cell differentiation with increased
DE numbers of transitional B-cells and hypogammaglobulinemia, as well as
DE decreased numbers of regulatory T-cells and defects in T-cell
DE function.
SY CARD11 immunodeficiency.
SY IMD11.
SY Immunodeficiency 11.
DR MIM; 615206; phenotype.
DR MedGen; C3554686.
DR MedGen; CN169370.
DR MeSH; D007153.
//
ID Immunodeficiency 11B with atopic dermatitis.
AC DI-05074
AR IMD11B.
DE An autosomal dominant disorder of immune dysfunction characterized by
DE onset of moderate to severe atopic dermatitis in early childhood. Some
DE patients may have recurrent infections and other variable immune
DE abnormalities. Laboratory studies show defects in T-cell activation,
DE increased IgE, and eosinophilia.
SY Atopic dermatitis, elevated IgE, and eosinophilia.
DR MIM; 617638; phenotype.
DR MedGen; CN417134.
DR MeSH; D007153.
//
ID Immunodeficiency 12.
AC DI-03911
AR IMD12.
DE A primary immunodeficiency characterized by onset in infancy of
DE recurrent bacterial and candidal infections resulting in
DE bronchiectasis and growth delay. Manifestations include mastoiditis,
DE aphthous ulcers, cheilitis, gingivitis, esophagitis, gastritis,
DE duodenitis, and meningitis. Levels of absolute lymphocytes and serum
DE immunoglobulins are normal, but specific antibody titers are low
DE despite immunization, and T-cells show impaired proliferative
DE responses to mitogens.
DR MIM; 615468; phenotype.
DR MedGen; C3809583.
DR MedGen; CN180192.
DR MeSH; D007153.
//
ID Immunodeficiency 13.
AC DI-03941
AR IMD13.
DE A rare and heterogeneous syndrome defined by a reproducible reduction
DE in the CD4 T-lymphocyte count (less than 300 cells per microliter or
DE less than 20% of total T-cells) in the absence of HIV infection or
DE other known causes of immunodeficiency. IMD13 predisposes to
DE infections and malignancy.
SY ICL.
SY Idiopathic CD4 lymphopenia.
DR MIM; 615518; phenotype.
DR MedGen; C3809768.
DR MedGen; CN181336.
DR MeSH; D007153.
//
ID Immunodeficiency 14A, autosomal dominant.
AC DI-03995
AR IMD14A.
DE A disorder characterized by recurrent respiratory infections,
DE progressive airway damage, lymphopenia, increased circulating
DE transitional B cells, increased immunoglobulin M, reduced
DE immunoglobulin G2 levels in serum, and impaired vaccine responses.
SY Activated PI3K-delta immunodeficiency syndrome.
SY Activated PI3K-delta syndrome.
SY APDS.
SY p110-delta-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency.
SY PASLI.
DR MIM; 615513; phenotype.
DR MedGen; C3714976.
DR MedGen; CN185290.
DR MeSH; D007153.
//
ID Immunodeficiency 14B, autosomal recessive.
AC DI-06085
AR IMD14B.
DE An autosomal recessive, primary immunodeficiency characterized by
DE recurrent sinopulmonary infections apparent in early childhood. Some
DE patients may develop inflammatory bowel disease or osteomyelitis.
DE Immunological features include hypogammaglobulinemia, decreased levels
DE of B cells, and evidence of impaired immune-mediated cytotoxicity and
DE defective T-cell function.
DR MIM; 619281; phenotype.
DR MedGen; CN296456.
DR MeSH; D007153.
//
ID Immunodeficiency 15A.
AC DI-05387
AR IMD15A.
DE An autosomal dominant primary immunodeficiency disorder characterized
DE by lymphopenia, inflammation and immune activation of both CD4+ and
DE CD8+ T cells. Patients suffer from recurrent respiratory tract
DE infections, oral candidiasis, and otitis media.
DR MIM; 618204; phenotype.
DR MedGen; CN257488.
DR MeSH; D016511.
//
ID Immunodeficiency 15B.
AC DI-04000
AR IMD15B.
DE An autosomal recessive primary immunodeficiency disorder characterized
DE by onset in infancy of life-threatening bacterial, fungal, and viral
DE infections and failure to thrive. Laboratory studies show hypo- or
DE agammaglobulinemia with relatively normal numbers of B and T-cells,
DE and impaired differentiation and activation of immune cells.
DR MIM; 615592; phenotype.
DR MedGen; C3810043.
DR MeSH; D016511.
KW KW-0705:SCID.
//
ID Immunodeficiency 16.
AC DI-04001
AR IMD16.
DE An autosomal recessive primary immunodeficiency associated with
DE classic Kaposi sarcoma of childhood and poor T-cell recall immune
DE responses due to complete functional OX40 deficiency.
SY OX40 deficiency.
DR MIM; 615593; phenotype.
DR MedGen; C3810053.
DR MedGen; CN183733.
DR MeSH; D007153.
//
ID Immunodeficiency 17.
AC DI-04033
AR IMD17.
DE An autosomal recessive primary immunodeficiency characterized by
DE highly variable clinical severity. Some patients have onset of severe
DE recurrent infections in early infancy that may be lethal, whereas
DE others may be only mildly affected or essentially asymptomatic into
DE young adulthood. More severely affected patients may have evidence of
DE autoimmune disease or enteropathy. The immunologic pattern is similar
DE among patients, showing partial T-cell lymphopenia, decreased amounts
DE of the CD3 complex, and impaired proliferative responses to T-cell
DE receptor dependent stimuli. The phenotype in some patients is
DE reminiscent of severe combined immunodeficiency.
SY CD3-gamma deficiency.
SY SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive.
DR MIM; 615607; phenotype.
DR MedGen; C3810107.
DR MedGen; CN184222.
DR MeSH; D007153.
//
ID Immunodeficiency 18.
AC DI-04034
AR IMD18.
DE An autosomal recessive primary immunodeficiency characterized by onset
DE in infancy or early childhood of recurrent infections. The severity is
DE variable, encompassing both a mild immunodeficiency and severe
DE combined immunodeficiency (SCID), resulting in early death without
DE bone marrow transplantation in some patients. Immunologic work-up of
DE the IMD18 SCID patients shows a T cell-negative, B cell-positive,
DE natural killer (NK) cell-positive phenotype, whereas T-cell
DE development is not impaired in the mild form of IMD18.
SY CD3-epsilon deficiency.
SY Immunodeficiency 18, SCID variant.
SY Immunodeficiency 18, severe combined immunodeficiency variant.
DR MIM; 615615; phenotype.
DR MedGen; C3810127.
DR MedGen; CN184330.
DR MedGen; CN184333.
DR MeSH; D007153.
//
ID Immunodeficiency 19.
AC DI-04027
AR IMD19.
DE An autosomal recessive form of severe combined immunodeficiency
DE characterized by onset in early infancy of recurrent bacterial, viral,
DE and fungal infections. Patients usually have chronic diarrhea,
DE recurrent respiratory infections, and failure to thrive. Immunologic
DE work-up shows a T-cell negative, B-cell positive, NK-cell positive
DE phenotype.
SY CD3-delta deficiency.
SY T cell-negative, B cell-positive, NK cell-positive SCID.
SY T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency.
DR MIM; 615617; phenotype.
DR MedGen; C3810147.
DR MedGen; CN184331.
DR MeSH; D007153.
KW KW-0705:SCID.
//
ID Immunodeficiency 20.
AC DI-04050
AR IMD20.
DE A rare autosomal recessive primary immunodeficiency characterized by
DE functional deficiency of NK cells. Affected individuals typically
DE present with severe herpes viral infections, particularly Epstein Barr
DE virus (EBV), and human papillomavirus (HPV).
DR MIM; 615707; phenotype.
DR MedGen; C3810342.
DR MedGen; CN185376.
DR MeSH; D007153.
//
ID Immunodeficiency 21.
AC DI-03212
AR IMD21.
DE An immunodeficiency disease characterized by profoundly decreased or
DE absent monocytes, B-lymphocytes, natural killer lymphocytes, and
DE circulating and tissue dendritic cells, with little or no effect on T-
DE cell numbers. Clinical features of DCML include susceptibility to
DE disseminated non-tuberculous mycobacterial infections, papillomavirus
DE infections, opportunistic fungal infections, and pulmonary alveolar
DE proteinosis. Bone marrow hypocellularity and dysplasia of myeloid,
DE erythroid, and megakaryocytic lineages are present in most patients,
DE as are karyotypic abnormalities, including monosomy 7 and trisomy 8.
DE This syndrome links susceptibility to mycobacterial, viral, and fungal
DE infections with malignancy and can be transmitted in an autosomal
DE dominant pattern.
SY Combined immunodeficiency with susceptibility to mycobacterial viral and fungal infections.
SY DCML.
SY Dendritic cell monocyte lymphocyte B and natural killer lymphocyte deficiency.
SY Monocytopenia and mycobacterial infection syndrome.
SY Monocytopenia with susceptibility to mycobacterial fungal and papillomavirus infections and myelodysplasia.
SY MONOMAC.
DR MIM; 614172; phenotype.
DR MedGen; C3280030.
DR MeSH; D008231.
//
ID Immunodeficiency 22.
AC DI-04079
AR IMD22.
DE A primary immunodeficiency characterized by T-cell dysfunction.
DE Affected individuals present with lymphopenia, recurrent infections,
DE severe diarrhea, and failure to thrive.
DR MIM; 615758; phenotype.
DR MedGen; CN186319.
DR MeSH; D007153.
//
ID Immunodeficiency 23.
AC DI-04117
AR IMD23.
DE A primary immunodeficiency syndrome characterized by recurrent
DE respiratory and skin infections beginning in early childhood, severe
DE atopy, increased serum IgE, and developmental delay or cognitive
DE impairment of varying severity.
SY Immunodeficiency-vasculitis-myoclonus syndrome.
SY Immunodeficiency with hyper IgE and cognitive impairment.
SY IVMS.
DR MIM; 615816; phenotype.
DR MedGen; CN188259.
DR MeSH; D007153.
//
ID Immunodeficiency 24.
AC DI-04159
AR IMD24.
DE A life-threatening immunodeficiency, characterized by an impaired
DE capacity of activated T and B cells to proliferate in response to
DE antigen receptor-mediated activation. Patients have early onset of
DE severe chronic viral infections, mostly caused by herpes viruses,
DE including EBV and varicella zooster virus (VZV), and also suffer from
DE recurrent encapsulated bacterial infections, a spectrum of infections
DE typical of a combined deficiency of adaptive immunity.
DR MIM; 615897; phenotype.
DR MedGen; CN196688.
DR MeSH; D007153.
//
ID Immunodeficiency 25.
AC DI-02209
AR IMD25.
DE An immunological deficiency characterized by T-cells impaired immune
DE response to alloantigens, tetanus toxoid and mitogens.
SY Immunodeficiency due to defect in CD3-zeta.
DR MIM; 610163; phenotype.
DR MedGen; C1857798.
DR MeSH; D007153.
//
ID Immunodeficiency 26 with or without neurologic abnormalities.
AC DI-04200
AR IMD26.
DE A form of severe combined immunodeficiency characterized by reduced or
DE absent T and B cells, recurrent candidiasis, and lower respiratory
DE tract infections. Some patients show dysmorphic features, severe
DE growth failure, microcephaly, seizures, and impaired neurological
DE functions.
DR MIM; 615966; phenotype.
DR MedGen; CN218441.
DR MeSH; D007153.
KW KW-0705:SCID.
//
ID Immunodeficiency 27A.
AC DI-01964
AR IMD27A.
DE A form of Mendelian susceptibility to mycobacterial disease, a rare
DE condition caused by impairment of interferon-gamma mediated immunity.
DE It is characterized by predisposition to illness caused by moderately
DE virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG)
DE vaccine, environmental non-tuberculous mycobacteria, and by the more
DE virulent Mycobacterium tuberculosis. Other microorganisms rarely cause
DE severe clinical disease in individuals with susceptibility to
DE mycobacterial infections, with the exception of Salmonella which
DE infects less than 50% of these individuals. Clinical outcome severity
DE depends on the degree of impairment of interferon-gamma mediated
DE immunity. Some patients die of overwhelming mycobacterial disease with
DE lepromatous-like lesions in early childhood, whereas others develop,
DE later in life, disseminated but curable infections with tuberculoid
DE granulomas.
SY Autosomal recessive IFNGR1 deficiency.
SY Autosomal recessive immunodeficiency 27A, mycobacteriosis.
SY Familial disseminated atypical mycobacterial infection.
DR MIM; 209950; phenotype.
DR MedGen; C4011949.
DR MeSH; D007153.
DR MeSH; D009164.
//
ID Immunodeficiency 27B.
AC DI-04225
AR IMD27B.
DE A form of Mendelian susceptibility to mycobacterial disease, a rare
DE condition caused by impairment of interferon-gamma mediated immunity.
DE It is characterized by predisposition to illness caused by moderately
DE virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG)
DE vaccine, environmental non-tuberculous mycobacteria, and by the more
DE virulent Mycobacterium tuberculosis. Other microorganisms rarely cause
DE severe clinical disease in individuals with susceptibility to
DE mycobacterial infections, with the exception of Salmonella which
DE infects less than 50% of these individuals. Clinical outcome severity
DE depends on the degree of impairment of interferon-gamma mediated
DE immunity. Some patients die of overwhelming mycobacterial disease with
DE lepromatous-like lesions in early childhood, whereas others develop,
DE later in life, disseminated but curable infections with tuberculoid
DE granulomas. IMD27B commonly presents with recurrent, moderately severe
DE infections with environmental mycobacteria or BCG. Salmonellosis is
DE present in about 5% of patients.
SY IFNGR1 deficiency, autosomal dominant.
SY Immunodeficiency 27B, mycobacteriosis, autosomal dominant.
DR MIM; 615978; phenotype.
DR MedGen; CN219206.
DR MeSH; D007153.
DR MeSH; D009165.
//
ID Immunodeficiency 28.
AC DI-04221
AR IMD28.
DE A form of Mendelian susceptibility to mycobacterial disease, a rare
DE condition caused by impairment of interferon-gamma mediated immunity.
DE It is characterized by predisposition to illness caused by moderately
DE virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG)
DE vaccine, environmental non-tuberculous mycobacteria, and by the more
DE virulent Mycobacterium tuberculosis. Other microorganisms rarely cause
DE severe clinical disease in individuals with susceptibility to
DE mycobacterial infections, with the exception of Salmonella which
DE infects less than 50% of these individuals. Clinical outcome severity
DE depends on the degree of impairment of interferon-gamma mediated
DE immunity. Some patients die of overwhelming mycobacterial disease with
DE lepromatous-like lesions in early childhood, whereas others develop,
DE later in life, disseminated but curable infections with tuberculoid
DE granulomas. IMD28 is an autosomal recessive disease that manifests
DE early in life, with severe, often fatal, infection.
SY IFNGR2 deficiency.
SY Immunodeficiency 28, mycobacteriosis, autosomal recessive.
DR MIM; 614889; phenotype.
DR MedGen; CN219202.
DR MeSH; D007153.
DR MeSH; D009165.
//
ID Immunodeficiency 29.
AC DI-04222
AR IMD29.
DE A form of Mendelian susceptibility to mycobacterial disease, a rare
DE condition caused by impairment of interferon-gamma mediated immunity.
DE It is characterized by predisposition to illness caused by moderately
DE virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG)
DE vaccine, environmental non-tuberculous mycobacteria, and by the more
DE virulent Mycobacterium tuberculosis. Other microorganisms rarely cause
DE severe clinical disease in individuals with susceptibility to
DE mycobacterial infections, with the exception of Salmonella which
DE infects less than 50% of these individuals. Clinical outcome severity
DE depends on the degree of impairment of interferon-gamma mediated
DE immunity. Some patients die of overwhelming mycobacterial disease with
DE lepromatous-like lesions in early childhood, whereas others develop,
DE later in life, disseminated but curable infections with tuberculoid
DE granulomas. IMD29 is characterized by undetectable IL12B secretion
DE from leukocytes. Affected individuals generally present with BCG
DE disease after vaccination in childhood, and at least half also have
DE Salmonella infection. Disease phenotype is relatively mild, and
DE patients have a good prognosis.
SY IL12B deficiency.
SY Immunodeficiency 29, mycobacteriosis.
DR MIM; 614890; phenotype.
DR MedGen; CN219203.
DR MeSH; D007153.
DR MeSH; D009165.
//
ID Immunodeficiency 30.
AC DI-04223
AR IMD30.
DE A form of Mendelian susceptibility to mycobacterial disease, a rare
DE condition caused by impairment of interferon-gamma mediated immunity.
DE It is characterized by predisposition to illness caused by moderately
DE virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG)
DE vaccine, environmental non-tuberculous mycobacteria, and by the more
DE virulent Mycobacterium tuberculosis. Other microorganisms rarely cause
DE severe clinical disease in individuals with susceptibility to
DE mycobacterial infections, with the exception of Salmonella which
DE infects less than 50% of these individuals. Clinical outcome severity
DE depends on the degree of impairment of interferon-gamma mediated
DE immunity. Some patients die of overwhelming mycobacterial disease with
DE lepromatous-like lesions in early childhood, whereas others develop,
DE later in life, disseminated but curable infections with tuberculoid
DE granulomas. IMD30 has low penetrance, and affected individuals have
DE relatively mild disease and good prognosis. BCG disease and
DE salmonellosis are the most frequent infections in IMD30 patients.
SY IL12RB1 deficiency.
DR MIM; 614891; phenotype.
DR MedGen; CN219204.
DR MeSH; D007153.
DR MeSH; D009165.
//
ID Immunodeficiency 31A.
AC DI-04224
AR IMD31A.
DE A form of Mendelian susceptibility to mycobacterial disease, a rare
DE condition caused by impairment of interferon-gamma mediated immunity.
DE It is characterized by predisposition to illness caused by moderately
DE virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG)
DE vaccine, environmental non-tuberculous mycobacteria, and by the more
DE virulent Mycobacterium tuberculosis. Other microorganisms rarely cause
DE severe clinical disease in individuals with susceptibility to
DE mycobacterial infections, with the exception of Salmonella which
DE infects less than 50% of these individuals. Clinical outcome severity
DE depends on the degree of impairment of interferon-gamma mediated
DE immunity. Some patients die of overwhelming mycobacterial disease with
DE lepromatous-like lesions in early childhood, whereas others develop,
DE later in life, disseminated but curable infections with tuberculoid
DE granulomas. IMD31A has low penetrance, and affected individuals have
DE relatively mild disease and good prognosis. IMD31A confers a
DE predisposition to mycobacterial infections only, with no increased
DE susceptibility to viral infections.
SY Immunodeficiency 31A, mycobacteriosis, autosomal dominant.
SY STAT1 deficiency, autosomal dominant.
DR MIM; 614892; phenotype.
DR MedGen; CN219205.
DR MeSH; D007153.
DR MeSH; D009165.
//
ID Immunodeficiency 31B.
AC DI-03106
AR IMD31B.
DE A disorder characterized by susceptibility to severe mycobacterial and
DE viral infections. Affected individuals can develop disseminated
DE infections and die of viral illness.
SY Autosomal recessive STAT1 deficiency.
SY Autosomal recessive susceptibility to mycobacterial and viral infections.
SY Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive.
SY Mycobacterial and viral infections due to complete STAT1 deficiency.
DR MIM; 613796; phenotype.
DR MedGen; C3151088.
DR MeSH; D007153.
//
ID Immunodeficiency 31C.
AC DI-03179
AR IMD31C.
DE A primary immunodeficiency disorder with altered immune responses and
DE impaired clearance of fungal infections, selective against Candida. It
DE is characterized by persistent and/or recurrent infections of the
DE skin, nails and mucous membranes caused by organisms of the genus
DE Candida, mainly Candida albicans.
SY CANDF7.
SY Candidiasis, familial, 7.
SY Candidiasis, familial chronic mucocutaneous, autosomal dominant.
SY Chronic mucocutaneous candidiasis 7.
DR MIM; 614162; phenotype.
DR MedGen; C3279990.
DR MeSH; D002178.
//
ID Immunodeficiency 32A.
AC DI-03810
AR IMD32A.
DE An immunologic disorder characterized by abnormal peripheral blood
DE myeloid phenotype with a marked loss of CD11C-positive/CD1C dendritic
DE cells, resulting in selective susceptibility to mycobacterial
DE infections.
SY Autosomal dominant CD11C-positive/CD1C-positive dendritic cell deficiency.
SY Autosomal dominant immunodeficiency 32A, mycobacteriosis.
SY Autosomal dominant IRF8 deficiency.
DR MIM; 614893; phenotype.
DR MedGen; C3808589.
DR MedGen; CN178080.
DR MeSH; D007153.
//
ID Immunodeficiency 32B.
AC DI-03811
AR IMD32B.
DE An autosomal recessive primary immunodeficiency characterized by
DE monocyte and dendritic cell deficiency, myeloproliferation, and
DE susceptibility to severe opportunistic infections, including
DE disseminated BCG infection and oral candidiasis.
SY Autosomal recessive monocyte and dendritic cell deficiency.
SY Immunodeficiency 32B, monocyte, dendritic cell, and natural killer cell deficiency, autosomal recessive.
SY IRF8 deficiency, autosomal recessive.
DR MIM; 226990; phenotype.
DR MedGen; C4016741.
DR MeSH; D007153.
//
ID Immunodeficiency 33.
AC DI-02445
AR IMD33.
DE An X-linked recessive disorder characterized by variably impaired
DE immunologic function and early-onset recurrent infections, usually due
DE to pneumococcus, H. influenzae, and atypical mycobacteria. Features of
DE hypohidrotic ectodermal dysplasia are generally not present, although
DE some patients may have conical teeth or hypodontia.
SY AMCBX1.
SY Familial, X-linked, atypical mycobacteriosis 1.
SY IPD2.
SY Recurrent isolated invasive pneumococcal disease 2.
SY X-linked disseminated atypical mycobacterial infection type 1.
SY X-linked immunodeficiency 33, mycobacteriosis.
SY X-linked susceptibility to mycobacterial disease type 1.
DR MIM; 300636; phenotype.
DR MedGen; C1970879.
DR MeSH; D007153.
//
ID Immunodeficiency 34.
AC DI-03091
AR IMD34.
DE A form of Mendelian susceptibility to mycobacterial disease, a rare
DE condition characterized by predisposition to illness caused by
DE moderately virulent mycobacterial species, such as Bacillus Calmette-
DE Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and
DE by the more virulent Mycobacterium tuberculosis. Other microorganisms
DE rarely cause severe clinical disease in individuals with
DE susceptibility to mycobacterial infections, with the exception of
DE Salmonella which infects less than 50% of these individuals.
SY AMCBX2.
SY Familial, X-linked, atypical mycobacteriosis 2.
SY Familial disseminated atypical mycobacterial infection X-linked 2.
SY Mendelian susceptibility to mycobacterial disease X-linked 2.
SY X-linked immunodeficiency 34, mycobacteriosis.
DR MIM; 300645; phenotype.
DR MedGen; C1970859.
DR MeSH; D007153.
//
ID Immunodeficiency 35.
AC DI-02224
AR IMD35.
DE A primary immunodeficiency characterized by recurrent skin abscesses,
DE pneumonia, and highly elevated serum IgE.
SY Autosomal recessive HIES with atypical mycobacteriosis.
SY Autosomal recessive hyper-IgE syndrome with atypical mycobacteriosis.
SY TYK2 deficiency.
SY Tyrosine kinase 2 deficiency.
DR MIM; 611521; phenotype.
DR MedGen; C1969086.
DR MeSH; D007153.
//
ID Immunodeficiency 36.
AC DI-04215
AR IMD36.
DE A primary immunodeficiency characterized by impaired B-cell function,
DE hypogammaglobulinemia and recurrent infections.
DR MIM; 616005; phenotype.
DR MedGen; CN219437.
DR MeSH; D007153.
//
ID Immunodeficiency 37.
AC DI-04266
AR IMD37.
DE A form of primary combined immunodeficiency, a group of disorders
DE characterized by severe recurrent infections, with normal numbers or
DE an absence of T and B lymphocytes, and impaired cellular and humoral
DE immunity. IMD37 is characterized by hypogammaglobulinemia without
DE lymphopenia, but with profoundly reduced memory B cells and memory T
DE cells, and increased numbers of circulating naive lymphocytes.
DE Inheritance is autosomal recessive.
DR MIM; 616098; phenotype.
DR MedGen; CN221289.
DR MeSH; D007153.
//
ID Immunodeficiency 38, with basal ganglia calcification.
AC DI-04280
AR IMD38.
DE A primary immunodeficiency predisposing individuals to severe clinical
DE disease upon infection with weakly virulent mycobacteria, including
DE Mycobacterium bovis Bacille Calmette-Guerin (BCG) vaccines. Patients
DE are also susceptible to Salmonella and Mycobacterium tuberculosis
DE infections. Affected individuals have intracranial calcification.
SY Immunodeficiency 38, mycobacteriosis, autosomal recessive.
SY ISG15 deficiency, autosomal recessive.
DR MIM; 616126; phenotype.
DR MedGen; CN221808.
DR MeSH; D007153.
//
ID Immunodeficiency 39.
AC DI-04423
AR IMD39.
DE A primary immunodeficiency causing severe, life-threatening acute
DE respiratory distress upon infection with H1N1 influenza A.
DR MIM; 616345; phenotype.
DR MedGen; CN230175.
DR MeSH; D007153.
//
ID Immunodeficiency 40.
AC DI-04461
AR IMD40.
DE A form of combined immunodeficiency characterized by lymphopenia, and
DE defective T-cell, B-cell, and NK-cell responses. Patients suffer from
DE severe invasive bacterial and viral infections in early childhood and
DE may die without bone marrow transplantation.
DR MIM; 616433; phenotype.
DR MedGen; CN231324.
DR MeSH; D016511.
//
ID Immunodeficiency 41 with lymphoproliferation and autoimmunity.
AC DI-04551
AR IMD41.
DE A disorder of immune dysregulation characterized by recurrent viral,
DE fungal, and bacterial infections, lymphadenopathy, and variable
DE autoimmune features, such as autoimmune enteropathy and eczematous
DE skin lesions.
SY CD25 deficiency.
SY IL2RA deficiency.
SY Interleukin 2 receptor alpha deficiency.
DR MIM; 606367; phenotype.
DR MedGen; C1853392.
DR MeSH; D007153.
//
ID Immunodeficiency 42.
AC DI-04562
AR IMD42.
DE An autosomal recessive primary immunodeficiency characterized by
DE increased susceptibility to concomitant candidiasis and
DE mycobacteriosis. Candidiasis is characterized by persistent and/or
DE recurrent infections of the skin, nails and mucous membranes caused by
DE organisms of the genus Candida. Mycobacteriosis is characterized by
DE infections caused by moderately virulent mycobacterial species, such
DE as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-
DE tuberculous mycobacteria, and by the more virulent Mycobacterium
DE tuberculosis. IMD42 patients vaccinated with BCG are particularly at
DE risk for developing disseminated mycobacterial infections.
DR MIM; 616622; phenotype.
DR MedGen; CN233197.
DR MeSH; D007153.
//
ID Immunodeficiency 43.
AC DI-01765
AR IMD43.
DE A disorder characterized by marked reduction in serum concentrations
DE of immunoglobulins and albumin, and hypoproteinemia due to
DE hypercatabolism. Patients may suffer from recurrent respiratory tract
DE infections and severe skin disease.
SY B2M deficiency.
SY Beta-2-microglobulin deficiency.
SY Hypercatabolic hypoproteinemia.
SY Hypoproteinemia, hypercatabolic.
DR MIM; 241600; phenotype.
DR MedGen; C1855796.
DR MeSH; D007153.
//
ID Immunodeficiency 44.
AC DI-04585
AR IMD44.
DE An autosomal recessive disorder characterized by increased
DE susceptibility to viral infection, resulting in some patients in
DE encephalopathy and infection-associated neurologic decompensation.
DR MIM; 616636; phenotype.
DR MedGen; CN233344.
DR MeSH; D007153.
//
ID Immunodeficiency 45.
AC DI-04586
AR IMD45.
DE An autosomal recessive disorder characterized by increased
DE susceptibility to viral infection due to impaired antiviral immunity,
DE resulting in infection-associated encephalopathy. Affected individuals
DE are at risk for developing fatal encephalitis after routine
DE measles/mumps/rubella (MMR) vaccination.
DR MIM; 616669; phenotype.
DR MedGen; CN233357.
DR MeSH; D007153.
//
ID Immunodeficiency 46.
AC DI-04634
AR IMD46.
DE An autosomal recessive primary immunodeficiency disorder characterized
DE by early-onset chronic diarrhea, recurrent infections, hypo- or
DE agammaglobulinemia, normal lymphocyte counts, intermittent
DE neutropenia, and intermittent thrombocytopenia.
DR MIM; 616740; phenotype.
DR MedGen; CN234781.
DR MeSH; D007153.
//
ID Immunodeficiency 47.
AC DI-04743
AR IMD47.
DE A complex immunodeficiency syndrome characterized by
DE hypogammaglobulinemia, recurrent bacterial infections, defective
DE glycosylation of serum proteins, and liver disease with neonatal
DE jaundice and hepatosplenomegaly. Some patients may also have
DE neurologic features, including seizures, mild intellectual disability,
DE and behavioral abnormalities. Inheritance is X-linked recessive.
SY CDG2S.
SY CDGIIs.
SY CDG IIs.
SY Congenital disorder of glycosylation, type IIs.
SY Congenital disorder of glycosylation 2S.
SY Immunodeficiency and hepatopathy with or without neurologic features.
DR MIM; 300972; phenotype.
DR MedGen; CN236829.
DR MeSH; D007153.
KW KW-0900:Congenital disorder of glycosylation.
//
ID Immunodeficiency 48.
AC DI-02295
AR IMD48.
DE A form of severe immunodeficiency characterized by a selective absence
DE of CD8+ T-cells.
SY Selective T-cell defect.
SY STCD.
DR MIM; 269840; phenotype.
DR MedGen; C1849236.
DR MedGen; C2931299.
DR MedGen; C3550707.
DR MeSH; D016511.
//
ID Immunodeficiency 49.
AC DI-04911
AR IMD49.
DE A form of severe combined immunodeficiency characterized by severe T-
DE cell lymphopenia, no detectable T-cell receptor excision circles, no
DE naive helper CD4+ T-cells, and impaired T-cell proliferative response.
DE In addition to primary immunodeficiency, affected individuals manifest
DE multiple abnormal systemic features, including severe delayed
DE psychomotor development, intellectual disability, spastic
DE quadriplegia, and craniofacial abnormalities.
SY SCID, T cell-negative, B cell-positive, NK cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities.
SY SCID, T-cell-negative, B-cell-positive, NK-cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities.
SY Severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities.
DR MIM; 617237; phenotype.
DR MedGen; CN239549.
DR MeSH; D016511.
KW KW-0705:SCID.
KW KW-0991:Intellectual disability.
//
ID Immunodeficiency 50.
AC DI-04900
AR IMD50.
DE A primary immunodeficiency disorder characterized by onset of
DE recurrent bacterial or varicella zoster virus infections in early
DE childhood, profound lymphopenia, hypogammaglobulinemia, fluctuating
DE monocytopenia and neutropenia, and a poor immune response to vaccine
DE antigens.
SY Immunodeficiency 50, X-linked recessive.
DR MIM; 300988; phenotype.
DR MedGen; CN239572.
DR MeSH; D007153.
//
ID Immunodeficiency 51.
AC DI-03104
AR IMD51.
DE A primary immunodeficiency disorder with altered immune responses and
DE impaired clearance of fungal infections, selective against Candida. It
DE is characterized by persistent and/or recurrent infections of the
DE skin, nails and mucous membranes caused by organisms of the genus
DE Candida, mainly Candida albicans.
SY CANDF5.
SY Candidiasis, familial, 5.
SY Candidiasis familial 5 autosomal recessive.
SY Candidiasis familial chronic mucocutaneous autosomal recessive.
SY Chronic mucocutaneous candidiasis 5.
DR MIM; 613953; phenotype.
DR MedGen; C3151402.
DR MeSH; D002178.
//
ID Immunodeficiency 52.
AC DI-05013
AR IMD52.
DE An autosomal recessive primary immunodeficiency characterized by T-
DE cell abnormalities, resulting in severe combined immunodeficiency,
DE autoimmune disease, progressive lymphopenia and hypogammaglobulinemia,
DE and lymphoproliferation with splenomegaly. Patients develop severe
DE recurrent infections from infancy.
DR MIM; 617514; phenotype.
DR MedGen; CN244051.
DR MeSH; D007153.
//
ID Immunodeficiency 53.
AC DI-05045
AR IMD53.
DE An autosomal recessive primary immunodeficiency apparent from early
DE infancy and resulting in recurrent infections, severe autoimmune skin
DE disease rheumatoid arthritis, and failure to thrive. Immunologic
DE workup shows increased CD4+/CD8+ ratio, impaired T-cell proliferative
DE response to multiple antigen, T-cell developmental and functional
DE defects, and impaired ability to produce specific immunoglobulins.
DR MIM; 617585; phenotype.
DR MedGen; CN347330.
DR MeSH; D007153.
//
ID Immunodeficiency 54.
AC DI-03605
AR IMD54.
DE An autosomal recessive disorder characterized by severe intra- and
DE extrauterine growth retardation, microcephaly, decreased numbers of
DE natural killer cells, and recurrent viral infections, most often
DE affecting the respiratory tract and leading to respiratory failure.
DE Affected individuals also have adrenal insufficiency requiring
DE corticosteroid replacement therapy and may have an increased
DE susceptibility to cancer.
SY Familial isolated natural killer cell deficiency.
SY Natural killer cell and glucocorticoid deficiency with DNA repair defect.
SY NKCD.
SY NKGCD.
DR MIM; 609981; phenotype.
DR MedGen; C1864947.
DR MeSH; D000309.
DR MeSH; D007153.
DR MeSH; D049914.
//
ID Immunodeficiency 55.
AC DI-05177
AR IMD55.
DE An autosomal recessive primary immunodeficiency characterized by
DE chronic neutropenia, natural killer cell deficiency, recurrent viral
DE and bacterial infections, and intrauterine growth retardation.
DE Postnatal growth retardation is present in most patients.
DR MIM; 617827; phenotype.
DR MedGen; CN737162.
DR MeSH; D007153.
//
ID Immunodeficiency 56.
AC DI-03764
AR IMD56.
DE An autosomal recessive primary immunodeficiency characterized by
DE B- and T-cell defects and variable dysfunction of NK cells. Patients
DE tend to have normal numbers of lymphocytes, but show defective class-
DE switched B-cells, low IgG, defective antibody response, and defective
DE T-cell responses to certain antigens.
SY Autosomal recessive primary immunodeficiency IL21R-related.
SY IL21R immunodeficiency.
DR MIM; 615207; phenotype.
DR MedGen; C3554687.
DR MeSH; D007153.
//
ID Immunodeficiency 57 with autoinflammation.
AC DI-05328
AR IMD57.
DE An autosomal recessive primary immunodeficiency characterized by
DE lymphopenia and recurrent viral, bacterial, and fungal infections.
DE Patients exhibit early-onset inflammatory bowel disease involving the
DE upper and lower gastrointestinal tract, and develop progressive
DE polyarthritis.
DR MIM; 618108; phenotype.
DR MedGen; CN253831.
DR MeSH; D007153.
//
ID Immunodeficiency 58.
AC DI-05329
AR IMD58.
DE An autosomal recessive primary immunodeficiency characterized by a
DE variety of infectious diseases, including mycobacterial diseases,
DE mucocutaneous candidiasis, silent but detectable EBV viremia, and
DE staphylococcal diseases. Patients suffer from dermatitis, esophagitis,
DE recurrent skin abscesses and chest infections. Immunologic analysis
DE shows defective T-cell function and deficient CD3/CD28 stimulation
DE responses in both CD4+ and CD8+ T cells. B-cell function may also be
DE impaired.
DR MIM; 618131; phenotype.
DR MedGen; CN253926.
DR MeSH; D007153.
//
ID Immunodeficiency 59 and hypoglycemia.
AC DI-05441
AR IMD59.
DE An autosomal recessive primary immunologic disorder characterized by
DE combined immunodeficiency, granulocytopenia, B-cell and dendritic cell
DE deficiency, recurrent septic infections of the respiratory tract, skin
DE and mucous membranes, and disturbed glucose metabolism.
SY Granulocytopenia with immunoglobulin abnormality.
DR MIM; 233600; phenotype.
DR MedGen; C1856263.
DR MeSH; D007153.
//
ID Immunodeficiency 60 and autoimmunity.
AC DI-05539
AR IMD60.
DE An autosomal dominant primary immunologic disorder characterized by
DE intestinal inflammation, recurrent sino-pulmonary infections, impaired
DE lymphocyte maturation, and variably decreased immunoglobulin
DE production.
SY BRIDA.
SY Immunodeficiency 60.
SY Immunodeficiency and autoimmunity, BACH2-related.
DR MIM; 618394; phenotype.
DR MedGen; CN258291.
DR MeSH; D007153.
//
ID Immunodeficiency 61.
AC DI-05546
AR IMD61.
DE An X-linked recessive primary immunologic disorder characterized by
DE recurrent infections due to impaired antibody production. Affected
DE individuals have normal numbers of circulating B and T cells, but B
DE cells have an intrinsic defect in antibody production. Disease
DE severity is variable and onset is in early childhood.
SY Agammaglobulinemia, X-linked, type 2.
SY AGMX2.
SY XLA2.
DR MIM; 300310; phenotype.
DR MedGen; C1845903.
DR MeSH; D007153.
//
ID Immunodeficiency 62.
AC DI-05587
AR IMD62.
DE An autosomal recessive, primary immunologic disorder characterized by
DE recurrent severe respiratory tract infections and bronchiectasis, due
DE to antibody deficiency. Affected individuals have an abnormal B cell
DE immunophenotype, with low levels of circulating memory B cells.
DR MIM; 618459; phenotype.
DR MedGen; CN258820.
DR MeSH; D007153.
//
ID Immunodeficiency 63 with lymphoproliferation and autoimmunity.
AC DI-05611
AR IMD63.
DE An autosomal recessive disorder characterized by immune dysregulation
DE resulting in lymphoid proliferation, dermatitis, enteropathy,
DE autoantibodies, hypergammaglobulinemia, and immunodeficiency with
DE recurrent infections. Patients show increased susceptibility to viral
DE infections, particularly cytomegalovirus disease.
SY CD122 deficiency.
SY Deficiency of interleukin 2 receptor beta.
SY IL2RB deficiency.
DR MIM; 618495; phenotype.
DR MedGen; CN260600.
DR MeSH; D007153.
//
ID Immunodeficiency 64.
AC DI-05632
AR IMD64.
DE An autosomal recessive primary immunodeficiency characterized by
DE recurrent bacterial, viral and fungal infections, variably decreased
DE numbers of T cells, deficiencies of B and NK cells, and increased
DE susceptibility to Epstein-Barr virus (EBV) infection. Patients may
DE develop lymphoproliferation or EBV-associated lymphoma. Some patients
DE may develop features of autoimmunity.
DR MIM; 618534; phenotype.
DR MedGen; CN262189.
DR MeSH; D007153.
//
ID Immunodeficiency 65.
AC DI-05684
AR IMD65.
DE An autosomal recessive immunologic disorder characterized by recurrent
DE viral infections from early infancy. Clinical consequences are
DE pneumonia, bronchiectasis, and septic shock. Affected individuals have
DE lymphopenia or hypogammaglobulinemia, particularly during infection,
DE and impaired cellular type I interferon response. Patients may have
DE adverse response to vaccination with live attenuated vaccines.
SY Immunodeficiency 65, susceptibility to viral infections.
DR MIM; 618648; phenotype.
DR MedGen; CN262580.
DR MeSH; D007153.
//
ID Immunodeficiency 66.
AC DI-05815
AR IMD66.
DE An autosomal recessive primary immunologic disorder characterized by
DE recurrent viral infections from infancy, associated with impaired
DE neutrophil migration due to defects in cytoskeletal actin dynamics.
DR MIM; 618847; phenotype.
DR MedGen; CN280119.
DR MeSH; D007153.
//
ID Immunodeficiency 67.
AC DI-01831
AR IMD67.
DE An autosomal recessive primary immunodeficiency characterized by
DE recurrent, life-threatening systemic and invasive bacterial infections
DE beginning in infancy or early childhood.
SY IPD1.
SY IRAK4D.
SY IRAK4 deficiency.
SY Recurrent isolated invasive pneumococcal disease 1.
DR MIM; 607676; phenotype.
DR MedGen; C1843256.
DR MeSH; D007153.
//
ID Immunodeficiency 68.
AC DI-02015
AR IMD68.
DE An autosomal recessive primary immunodeficiency characterized by life-
DE threatening, often recurrent, pyogenic bacterial infections, including
DE invasive pneumococcal disease, beginning in infancy or early
DE childhood.
SY MYD88D.
SY MYD88 deficiency.
SY Recurrent pyogenic bacterial infections due to MYD88 deficiency.
DR MIM; 612260; phenotype.
DR MedGen; C2677092.
DR MeSH; D007153.
//
ID Immunodeficiency 69.
AC DI-05886
AR IMD69.
DE A form of Mendelian susceptibility to mycobacterial disease, a rare
DE condition caused by impairment of interferon-gamma mediated immunity.
DE It is characterized by predisposition to illness caused by moderately
DE virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG)
DE vaccine, environmental non-tuberculous mycobacteria, and by the more
DE virulent Mycobacterium tuberculosis. Other microorganisms rarely cause
DE severe clinical disease in individuals with susceptibility to
DE mycobacterial infections. Clinical outcome severity depends on the
DE degree of impairment of interferon-gamma mediated immunity. IMD69 is
DE an autosomal recessive disorder manifesting with fever,
DE hepatosplenomegaly, leukocytosis, and thrombocytosis during the acute
DE infection.
SY IFNG deficiency, autosomal recessive.
SY Immunodeficiency 69, mycobacteriosis, autosomal recessive.
DR MIM; 618963; phenotype.
DR MedGen; CN283304.
DR MeSH; D007153.
DR MeSH; D009164.
//
ID Immunodeficiency 7.
AC DI-04031
AR IMD7.
DE A primary immunodeficiency disorder manifesting with recurrent
DE respiratory infections, candidiasis, diarrhea, and failure to thrive.
DE Patients show a clear predisposition to herpes viral infections, and
DE features of immune dysregulation, including hypereosinophilia,
DE vitiligo, and alopecia areata. Other features include lymphadenopathy
DE and hepatosplenomegaly. CD3+ T-cells express TCR-gamma/delta, but
DE little or no TCR-alpha/beta.
SY Immunodeficiency 7, TCR-alpha/beta deficient.
SY T-cell receptor-alpha/beta deficiency.
SY TCR-alpha/beta deficiency.
DR MIM; 615387; phenotype.
DR MedGen; C3809332.
DR MedGen; CN179773.
DR MeSH; D007153.
//
ID Immunodeficiency 70.
AC DI-05887
AR IMD70.
DE A primary immunodeficiency clinically characterized by human
DE papillomavirus-associated warts on the hands, feet and face, recurrent
DE bacterial infections, and autoinflammatory features, such as colitis,
DE celiac disease, and retinal vasculitis. Immunologic workup shows
DE decreased CD4+ T cells, decreased CD19+ B cells, and
DE hypogammaglobulinemia. IMD70 inheritance is autosomal dominant with
DE incomplete penetrance.
DR MIM; 618969; phenotype.
DR MedGen; CN283303.
DR MeSH; D007153.
//
ID Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia.
AC DI-05117
AR IMD71.
DE An autosomal recessive disorder characterized by platelet
DE abnormalities, vasculitis, eosinophilia, and predisposition to
DE inflammatory diseases.
SY Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease.
SY PLTEID.
DR MIM; 617718; phenotype.
DR MedGen; CN570504.
DR MeSH; D001791.
DR MeSH; D004802.
//
ID Immunodeficiency 72 with autoinflammation.
AC DI-05896
AR IMD72.
DE An autosomal recessive immunologic disorder characterized by onset in
DE the first year of life, recurrent bacterial and viral skin infections,
DE severe respiratory tract infections leading to pneumonia and
DE bronchiectasis, and poor specific antibody responses. Patients also
DE exhibit atopic and inflammatory disease alongside chronic
DE hepatosplenomegaly and lymphadenopathy, and autoimmune manifestations.
DR MIM; 618982; phenotype.
DR MedGen; CN283327.
DR MeSH; D007153.
//
ID Immunodeficiency 73A with defective neutrophil chemotaxis and leukocytosis.
AC DI-02051
AR IMD73A.
DE An autosomal dominant immunologic disorder characterized by onset of
DE recurrent infections in early infancy, leukocytosis, neutrophilia,
DE invasive infections, and poor wound healing.
SY Neutrophil immunodeficiency syndrome.
DR MIM; 608203; phenotype.
DR MedGen; C1842398.
DR MeSH; D007153.
//
ID Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia.
AC DI-05898
AR IMD73B.
DE An autosomal dominant immunologic disorder characterized by
DE respiratory infections, cellulitis, severe invasive infections, B- and
DE T-cell lymphopenia, and impaired neutrophil chemotaxis. Disease onset
DE is in infancy or early childhood.
DR MIM; 618986; phenotype.
DR MedGen; CN283330.
DR MeSH; D007153.
//
ID Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia.
AC DI-05899
AR IMD73C.
DE An autosomal recessive immunologic disorder characterized by recurrent
DE respiratory infections, decreased B cells, hypogammaglobulinemia, and
DE impaired neutrophil chemotaxis. Variable features are urticaria,
DE recurrent erythematous plaques, food allergy, arthralgia,
DE bronchiectasis, and lymphadenopathy. In addition, patients suffer from
DE glomerulonephritis, coagulopathy, multiple hormone deficiencies, and
DE abnormalities of neutrophil granules.
DR MIM; 618987; phenotype.
DR MedGen; CN283331.
DR MeSH; D007153.
//
ID Immunodeficiency 74, COVID19-related, X-linked.
AC DI-05889
AR IMD74.
DE An X-linked recessive immunologic disorder characterized by impaired
DE type I and type II interferon responses due to defective TLR7
DE signaling. Individuals with TLR7 deficiency develop severe respiratory
DE insufficiency in response to infection with SARS-CoV-2 coronavirus.
DE Death from respiratory failure may occur.
SY Respiratory insufficiency due to SARS-CoV-2 viral infection.
SY TLR7 deficiency.
DR MIM; 301051; phenotype.
DR MedGen; CN283338.
DR MeSH; D007153.
//
ID Immunodeficiency 75.
AC DI-05992
AR IMD75.
DE An autosomal recessive immunologic disorder characterized by recurrent
DE infections, mainly viral and affecting the respiratory tract,
DE immunodeficieny, immune dysregulation, and the development of
DE lymphoproliferative disorders, including lymphoma.
DR MIM; 619126; phenotype.
DR MedGen; CN293597.
DR MeSH; D007153.
//
ID Immunodeficiency 76.
AC DI-06026
AR IMD76.
DE An autosomal recessive immunologic disorder characterized by onset of
DE recurrent bacterial, viral, and fungal infections in early childhood.
DE Affected individuals have T-cell lymphopenia and variable B-cell or
DE immunoglobulin abnormalities. Some patients develop B-cell lymphoma,
DE others manifest neurologic features.
DR MIM; 619164; phenotype.
DR MedGen; CN295271.
DR MeSH; D007153.
//
ID Immunodeficiency 77.
AC DI-06056
AR IMD77.
DE An autosomal dominant disorder characterized by recurrent, persistent
DE bacterial and fungal infections with multiple unusual organisms. Skin
DE and pulmonary infections are the most common. Patient macrophages show
DE impaired killing of intracellular bacteria and organisms, including
DE non-tubercular mycobacteria, Pseudomonas, Candida, and Aspergillus.
DR MIM; 619223; phenotype.
DR MedGen; CN295865.
DR MeSH; D007153.
//
ID Immunodeficiency 78 with autoimmunity and developmental delay.
AC DI-06055
AR IMD78.
DE An autosomal recessive disorder characterized by immune dysregulation,
DE increased susceptibility to bacterial, viral and fungal infections,
DE recurrent sinopulmonary or skin infections, and autoimmune
DE abnormalities including hemolytic anemia and autoimmune cytopenias.
DE Patients also have global developmental delay with speech delay and
DE variable intellectual disability. Disease onset is in infancy or early
DE childhood.
DR MIM; 619220; phenotype.
DR MedGen; CN295833.
DR MeSH; D001327.
DR MeSH; D007153.
//
ID Immunodeficiency 79.
AC DI-06061
AR IMD79.
DE An autosomal recessive disorder characterized by childhood onset of
DE recurrent and recalcitrant skin warts due to uncontrolled viral
DE infection with human papillomavirus (HPV). Some patients may also have
DE recurrent respiratory infections. Laboratory studies show a complete
DE absence of CD4+ T cells.
SY CD4 deficiency.
DR MIM; 619238; phenotype.
DR MedGen; CN296016.
DR MeSH; D007153.
//
ID Immunodeficiency 8.
AC DI-03875
AR IMD8.
DE A disease of the immune system leading to recurrent infections, and
DE characterized by CD4+ T-cells lymphopenia. Patients can develop B-cell
DE lymphoproliferation associated with Epstein-Barr virus infection.
DR MIM; 615401; phenotype.
DR MedGen; C3809383.
DR MedGen; CN179950.
DR MeSH; D007153.
//
ID Immunodeficiency 80 with or without congenital cardiomyopathy.
AC DI-06100
AR IMD80.
DE An autosomal recessive immunologic disorder with variable
DE manifestations including decreased B and T cells, reduced effector and
DE memory T cells, NK cell deficiency, chronic cytomegalovirus infection.
DE Restrictive cardiomyopathy and hypoplasia of the spleen and thymus
DE have also been reported in some patients.
DR MIM; 619313; phenotype.
DR MedGen; CN296698.
DR MeSH; D007153.
//
ID Immunodeficiency 81.
AC DI-06140
AR IMD81.
DE An autosomal recessive disorder characterized by recurrent infections,
DE including fungal infections, associated with T cell, neutrophil, and
DE NK cell dysfunction. B cells may also show maturation abnormalities.
DE Other features include autoimmune hemolytic anemia and abnormal
DE platelet aggregation.
DR MIM; 619374; phenotype.
DR MedGen; CN297551.
DR MeSH; D007153.
//
ID Immunodeficiency 82 with systemic inflammation.
AC DI-06146
AR IMD82.
DE An autosomal dominant immunologic disorder with onset in early
DE childhood. It is characterized by recurrent infections with various
DE organisms, and multi-organ inflammation that manifests as colitis,
DE hepatitis, arthritis and dermatitis. Patients have a propensity for
DE the development of lymphoma, usually in adulthood. Disease severity is
DE variable.
DR MIM; 619381; phenotype.
DR MedGen; CN297563.
DR MeSH; D007153.
//
ID Immunodeficiency 83, susceptibility to viral infections.
AC DI-02371
AR IMD83.
DE An immunologic disorder characterized by increased susceptibility to
DE severe viral infections, including herpes simplex virus (HSV),
DE varicella zoster virus (VZV), influenza A virus (IAV), hantavirus, and
DE possibly respiratory syncytial virus (RSV). IMD83 clinical
DE manifestations include acute infection-induced encephalitis and
DE pneumonitis. The susceptibility to encephalitis or pneumonitis appears
DE to result from impaired TLR3-dependent interferon production by
DE nonhematopoietic cells that reside within the central nervous system
DE or lung epithelial cells. IMD83 transmission pattern is consistent
DE with autosomal dominant or autosomal recessive inheritance with
DE incomplete penetrance.
SY Encephalopathy, acute, infection-induced, 2.
SY Encephalopathy, acute, infection-induced, 2, herpes-specific.
SY Herpes simplex encephalitis 2.
SY HSE2.
SY IIAE2.
SY Infection-induced acute encephalopathy 2.
SY TLR3-deficient herpes simplex encephalitis.
DR MIM; 613002; phenotype.
DR MedGen; C2751803.
DR MeSH; D020803.
//
ID Immunodeficiency 84.
AC DI-06169
AR IMD84.
DE An autosomal recessive immunologic disorder characterized by recurrent
DE sinopulmonary infections from childhood associated with low levels of
DE B cells and impaired early B-cell development. There may also be
DE variable T-cell abnormalities. Patients have increased susceptibility
DE to infection with Epstein-Barr virus and a propensity for the
DE development of lymphoma in adulthood.
DR MIM; 619437; phenotype.
DR MedGen; CN300222.
DR MeSH; D007153.
//
ID Immunodeficiency 85.
AC DI-06218
AR IMD85.
DE An autosomal dominant immunologic disorder characterized by early-
DE onset autoimmunity and features of combined immunodeficiency such as
DE hypogammaglobulinemia and abnormal T-cell function. Clinical
DE manifestations include atopic eczema and recurrent respiratory
DE infections in the first decade of life, autoimmune enteropathy, growth
DE failure, autoimmune oligoarthritis, interstitial pneumonitis, and EBV
DE viremia.
DR MIM; 619510; phenotype.
DR MedGen; CN300408.
DR MeSH; D007153.
//
ID Immunodeficiency 86.
AC DI-06255
AR IMD86.
DE An autosomal recessive disorder characterized by susceptibility to
DE mycobacterial disease after exposure to BCG vaccine. Affected
DE individuals usually develop localized mycobacterial lymphadenopathy.
SY Immunodeficiency 86, mycobacteriosis, autosomal recessive.
DR MIM; 619549; phenotype.
DR MedGen; CN300806.
DR MeSH; D007153.
//
ID Immunodeficiency 87 and autoimmunity.
AC DI-06246
AR IMD87.
DE An autosomal recessive disorder with onset in infancy or early
DE childhood. It is characterized by increased susceptibility to
DE infections, often Epstein-Barr virus, as well as lymphadenopathy or
DE autoimmune manifestations, predominantly hemolytic anemia. The
DE disorder results primarily from defects in T-cell function.
DR MIM; 619573; phenotype.
DR MedGen; CN301078.
DR MeSH; D007153.
//
ID Immunodeficiency 88.
AC DI-06274
AR IMD88.
DE An autosomal recessive disorder characterized by the development of
DE disseminated mycobacterial disease following vaccination with BCG.
DE Clinical features included fever, lymphadenopathy, and cutaneous
DE eruption.
SY Immunodeficiency 88, mycobacteriosis, autosomal recessive.
DR MIM; 619630; phenotype.
DR MedGen; CN304965.
DR MeSH; D007153.
//
ID Immunodeficiency 89 and autoimmunity.
AC DI-06275
AR IMD89.
DE An autosomal recessive disorder characterized by adult onset of
DE recurrent infections, allergies, microcytic anemia, and Crohn disease.
DR MIM; 619632; phenotype.
DR MedGen; CN304966.
DR MeSH; D007153.
//
ID Immunodeficiency 9.
AC DI-01021
AR IMD9.
DE An immune disorder characterized by recurrent infections, impaired
DE activation and proliferative response of T-cells, decreased T-cell
DE production of cytokines, and normal lymphocytes counts and serum
DE immunoglobulin levels. In surviving patients ectodermal dysplasia with
DE anhidrosis and non-progressive myopathy may be observed.
SY Immune dysfunction with T-cell inactivation due to calcium entry defect 1.
SY Severe combined immunodeficiency due to CRAC channel dysfunction.
DR MIM; 612782; phenotype.
DR MedGen; C2748568.
DR MeSH; D007153.
//
ID Immunodeficiency 91 and hyperinflammation.
AC DI-06288
AR IMD91.
DE An autosomal recessive disorder characterized by immunodeficiency,
DE recurrent infections, and hyperinflammation with systemic involvement.
DE Most patients eventually develop hepatic or renal failure, may have
DE compromised neurologic function, lymphadenopathy or
DE hepatosplenomegaly. Early death often occurs due to multiorgan
DE failure.
DR MIM; 619644; phenotype.
DR MedGen; CN305189.
DR MeSH; D007153.
//
ID Immunodeficiency 92.
AC DI-06291
AR IMD92.
DE An autosomal recessive disorder characterized by recurrent bacterial,
DE viral, fungal, or parasitic infections appearing in infancy or early
DE childhood. Patient lymphocytes show defects in both T- and B-cell
DE proliferation, cytokine secretion, and overall function, and there is
DE also evidence of dysfunction of NK, certain antigen-presenting cells,
DE and myeloid subsets.
DR MIM; 619652; phenotype.
DR MedGen; CN305208.
DR MeSH; D007153.
//
ID Immunodeficiency 93 and hypertrophic cardiomyopathy.
AC DI-06317
AR IMD93.
DE An autosomal recessive disorder characterized by onset of recurrent
DE viral and bacterial infections, particularly with encapsulated
DE bacteria, and hypertrophic cardiomyopathy in the first months or years
DE of life.
DR MIM; 619705; phenotype.
DR MedGen; CN306132.
DR MeSH; D007153.
KW KW-0122:Cardiomyopathy.
//
ID Immunodeficiency 94 with autoinflammation and dysmorphic facies.
AC DI-06346
AR IMD94.
DE An autosomal dominant disorder characterized by onset in early
DE infancy, lymphadenopathy, autoinflammation, immunodeficiency with
DE hypogammaglobulinemia, and dysmorphic facial features.
DR MIM; 619750; phenotype.
DR MedGen; CN306774.
DR MeSH; D007153.
//
ID Immunodeficiency 95.
AC DI-06358
AR IMD95.
DE An autosomal recessive disorder characterized by the onset of
DE recurrent and severe viral respiratory infections in infancy or early
DE childhood, and impaired interferon production during viral infection.
DR MIM; 619773; phenotype.
DR MedGen; CN306973.
DR MeSH; D007153.
//
ID Immunodeficiency 96.
AC DI-06359
AR IMD96.
DE An autosomal recessive disorder characterized by onset of recurrent,
DE usually viral, respiratory infections in infancy or early childhood.
DE Other infections, including gastrointestinal and urinary tract
DE infections, may also occur. Laboratory studies show
DE hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells,
DE and erythrocyte macrocytosis.
DR MIM; 619774; phenotype.
DR MedGen; CN306974.
DR MeSH; D007153.
//
ID Immunodeficiency due to defect in MAPBP-interacting protein.
AC DI-01810
AR ID-MAPBPIP.
DE This form of primary immunodeficiency syndrome includes congenital
DE neutropenia, partial albinism, short stature and B-cell and cytotoxic
DE T-cell deficiency.
DR MIM; 610798; phenotype.
DR MedGen; C1835829.
//
ID Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome.
AC DI-01811
AR IPEX.
DE Characterized by neonatal onset insulin-dependent diabetes mellitus,
DE infections, secretory diarrhea, thrombocytopenia, anemia and eczema.
DE It is usually lethal in infancy.
SY X-linked autoimmunity-immunodeficiency syndrome.
DR MIM; 304790; phenotype.
DR MedGen; C0342288.
DR MedGen; C1844663.
//
ID Immunodeficiency with hyper-IgM 2.
AC DI-01241
AR HIGM2.
DE A rare immunodeficiency syndrome characterized by normal or elevated
DE serum IgM levels with absence of IgG, IgA, and IgE. It results in a
DE profound susceptibility to bacterial infections.
SY Hyper-IgM immunodeficiency type 2.
SY Hyper-IgM syndrome 2.
DR MIM; 605258; phenotype.
DR MedGen; C1720956.
DR MeSH; D053306.
//
ID Immunodeficiency with hyper-IgM 3.
AC DI-01763
AR HIGM3.
DE A rare immunodeficiency syndrome characterized by normal or elevated
DE serum IgM levels with absence of IgG, IgA, and IgE. It results in a
DE profound susceptibility to bacterial infections.
SY Hyper-IgM immunodeficiency type 3.
SY Hyper-IgM syndrome 3.
DR MIM; 606843; phenotype.
DR MedGen; C1720957.
DR MeSH; D053306.
//
ID Immunodeficiency with hyper-IgM 5.
AC DI-01812
AR HIGM5.
DE A rare immunodeficiency syndrome characterized by normal or elevated
DE serum IgM levels with absence of IgG, IgA, and IgE. It results in a
DE profound susceptibility to bacterial infections.
SY Hyper-IgM immunodeficiency type 5.
SY Hyper-IgM syndrome 5.
DR MIM; 608106; phenotype.
DR MedGen; C1720958.
DR MeSH; D053306.
//
ID Immunodeficiency with hyper-IgM, type 1.
AC DI-02449
AR HIGM1.
DE Immunoglobulin isotype switch defect characterized by elevated
DE concentrations of serum IgM and decreased amounts of all other
DE isotypes. Affected males present at an early age (usually within the
DE first year of life) recurrent bacterial and opportunistic infections,
DE including Pneumocystis carinii pneumonia and intractable diarrhea due
DE to cryptosporidium infection. Despite substitution treatment with
DE intravenous immunoglobulin, the overall prognosis is rather poor, with
DE a death rate of about 10% before adolescence.
SY HIGM.
SY Hyper-IgM syndrome.
SY Hyper-IgM syndrome 1.
SY IHIS.
SY IMD3.
SY Immunodeficiency 3.
SY XHIM.
SY X-linked hyper IgM syndrome.
SY X-linked immunodeficiency with hyper-IgM 1.
DR MIM; 308230; phenotype.
DR MedGen; C0398689.
DR MeSH; D053307.
//
ID Immunodeficiency, common variable, 1.
AC DI-01805
AR CVID1.
DE A primary immunodeficiency characterized by antibody deficiency,
DE hypogammaglobulinemia, recurrent bacterial infections and an inability
DE to mount an antibody response to antigen. The defect results from a
DE failure of B-cell differentiation and impaired secretion of
DE immunoglobulins; the numbers of circulating B-cells is usually in the
DE normal range, but can be low.
SY Antibody deficiency due to ICOS defect.
SY ICOS deficiency.
DR MIM; 607594; phenotype.
DR MedGen; C0009447.
DR MedGen; C3149378.
DR MeSH; D017074.
//
ID Immunodeficiency, common variable, 10.
AC DI-03979
AR CVID10.
DE A primary immunodeficiency characterized by childhood-onset of
DE recurrent infections, hypogammaglobulinemia, and decreased numbers of
DE memory and marginal zone B-cells. Some patients may develop autoimmune
DE features and have circulating autoantibodies. An unusual feature is
DE central adrenal insufficiency.
SY Common variable immunodeficiency with central adrenal insufficiency.
SY DAVID.
SY Deficit in anterior pituitary function and variable immunodeficiency.
DR MIM; 615577; phenotype.
DR MedGen; C3809991.
DR MedGen; CN185293.
DR MeSH; D017074.
//
ID Immunodeficiency, common variable, 11.
AC DI-04080
AR CVID11.
DE A primary immunodeficiency characterized by antibody deficiency,
DE hypogammaglobulinemia, recurrent bacterial infections and an inability
DE to mount an antibody response to antigen. The defect results from a
DE failure of B-cell differentiation and impaired secretion of
DE immunoglobulins; the numbers of circulating B-cells is usually in the
DE normal range, but can be low.
SY IL21 deficiency.
DR MIM; 615767; phenotype.
DR MedGen; CN186320.
DR MeSH; D017074.
//
ID Immunodeficiency, common variable, 12, with autoimmunity.
AC DI-04553
AR CVID12.
DE A primary immunodeficiency characterized by hypogammaglobulinemia and
DE recurrent bacterial infections. About half of patients develop
DE autoimmune features, including cytopenia, as well as generalized
DE inflammation and lymphoproliferation manifest as lymphadenopathy or
DE hepatosplenomegaly.
SY NFKB1 deficiency.
DR MIM; 616576; phenotype.
DR MedGen; CN233034.
DR MeSH; D017074.
//
ID Immunodeficiency, common variable, 13.
AC DI-04688
AR CVID13.
DE A primary immunodeficiency characterized by antibody deficiency,
DE hypogammaglobulinemia, recurrent bacterial infections and an inability
DE to mount an antibody response to antigen. CVID13 is an autosomal
DE dominant disease associated with a striking decrease in B-cell
DE numbers.
DR MIM; 616873; phenotype.
DR MedGen; CN235673.
DR MeSH; D017074.
//
ID Immunodeficiency, common variable, 14.
AC DI-05140
AR CVID14.
DE A primary immunodeficiency resulting in recurrent sinopulmonary
DE infections since early childhood, and characterized by
DE hypogammaglobulinemia with undetectable IgG and IgA, poor response to
DE vaccination, and decreased levels of switched memory B cells. CVID14
DE inheritance is autosomal dominant.
DR MIM; 617765; phenotype.
DR MedGen; CN615280.
DR MeSH; D017074.
//
ID Immunodeficiency, common variable, 2.
AC DI-01371
AR CVID2.
DE A primary immunodeficiency characterized by antibody deficiency,
DE hypogammaglobulinemia, recurrent bacterial infections and an inability
DE to mount an antibody response to antigen. The defect results from a
DE failure of B-cell differentiation and impaired secretion of
DE immunoglobulins; the numbers of circulating B-cells is usually in the
DE normal range, but can be low.
SY Antibody deficiency due to TACI defect.
SY Hypogammaglobulinemia due to TACI deficiency.
DR MIM; 240500; phenotype.
DR MedGen; C3150354.
DR MeSH; D017074.
//
ID Immunodeficiency, common variable, 3.
AC DI-02800
AR CVID3.
DE A primary immunodeficiency characterized by antibody deficiency,
DE hypogammaglobulinemia, recurrent bacterial infections and an inability
DE to mount an antibody response to antigen. The defect results from a
DE failure of B-cell differentiation and impaired secretion of
DE immunoglobulins; the numbers of circulating B-cells is usually in the
DE normal range, but can be low.
SY Antibody deficiency due to CD19 defect.
DR MIM; 613493; phenotype.
DR MedGen; C3150738.
DR MeSH; D017074.
//
ID Immunodeficiency, common variable, 4.
AC DI-02801
AR CVID4.
DE A primary immunodeficiency characterized by antibody deficiency,
DE hypogammaglobulinemia, recurrent bacterial infections and an inability
DE to mount an antibody response to antigen. The defect results from a
DE failure of B-cell differentiation and impaired secretion of
DE immunoglobulins; the numbers of circulating B-cells is usually in the
DE normal range, but can be low.
SY Antibody deficiency due to BAFFR defect.
DR MIM; 613494; phenotype.
DR MedGen; C3150739.
DR MeSH; D017074.
//
ID Immunodeficiency, common variable, 5.
AC DI-02802
AR CVID5.
DE A primary immunodeficiency characterized by antibody deficiency,
DE hypogammaglobulinemia, recurrent bacterial infections and an inability
DE to mount an antibody response to antigen. The defect results from a
DE failure of B-cell differentiation and impaired secretion of
DE immunoglobulins; the numbers of circulating B-cells is usually in the
DE normal range, but can be low.
SY Antibody deficiency due to CD20 defect.
DR MIM; 613495; phenotype.
DR MedGen; C3150740.
DR MeSH; D017074.
//
ID Immunodeficiency, common variable, 6.
AC DI-02803
AR CVID6.
DE A primary immunodeficiency characterized by antibody deficiency,
DE hypogammaglobulinemia, recurrent bacterial infections and an inability
DE to mount an antibody response to antigen. The defect results from a
DE failure of B-cell differentiation and impaired secretion of
DE immunoglobulins; the numbers of circulating B-cells is usually in the
DE normal range, but can be low.
SY Antibody deficiency due to CD81 defect.
DR MIM; 613496; phenotype.
DR MedGen; C3150741.
DR MeSH; D017074.
//
ID Immunodeficiency, common variable, 7.
AC DI-03489
AR CVID7.
DE A primary immunodeficiency characterized by antibody deficiency,
DE hypogammaglobulinemia, recurrent bacterial infections and an inability
DE to mount an antibody response to antigen. The defect results from a
DE failure of B-cell differentiation and impaired secretion of
DE immunoglobulins; the numbers of circulating B-cells is usually in the
DE normal range, but can be low.
DR MIM; 614699; phenotype.
DR MedGen; C3542922.
DR MedGen; CN130275.
DR MeSH; D017074.
//
ID Immunodeficiency, common variable, 8, with autoimmunity.
AC DI-03490
AR CVID8.
DE An autosomal recessive immunologic disorder associated with defective
DE B-cell differentiation and decreased or absent antibody production.
DE Affected individuals have early-childhood onset of recurrent
DE infections, particularly respiratory infections, and also develop
DE variable autoimmune disorders, including idiopathic thrombocytopenic
DE purpura, autoimmune hemolytic anemia, and inflammatory bowel disease.
DR MIM; 614700; phenotype.
DR MedGen; C3553512.
DR MedGen; CN130276.
DR MeSH; D017074.
//
ID Immunodeficiency, developmental delay, and hypohomocysteinemia.
AC DI-05121
AR IMDDHH.
DE An early onset multisystem disorder characterized by immunodeficiency,
DE recurrent infections, developmental delay, poor growth, intellectual
DE disability, and hypohomocysteinemia. Some patients manifest congenital
DE cardiac defects. IMDDHH inheritance pattern is autosomal dominant.
DR MIM; 617744; phenotype.
DR MedGen; CN578218.
DR MeSH; D007153.
//
ID Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia.
AC DI-03201
AR XMEN.
DE A disease characterized by CD4 lymphopenia, severe chronic viral
DE infections, and defective T-lymphocyte activation.
DR MIM; 300853; phenotype.
DR MedGen; C3275445.
DR MeSH; D008231.
//
ID Immunodeficiency-centromeric instability-facial anomalies syndrome 1.
AC DI-01813
AR ICF1.
DE A rare disorder characterized by a variable immunodeficiency resulting
DE in recurrent infections, facial anomalies, and branching of
DE chromosomes 1, 9, and 16. Other variable symptoms include growth
DE retardation, failure to thrive, and psychomotor retardation.
DE Laboratory studies show limited hypomethylation of DNA in a small
DE fraction of the genome in some, but not all, patients.
SY Centromeric instability immunodeficiency syndrome.
SY CIID.
SY ICF syndrome.
SY Variable immune deficiency with centromeric instability of chromosomes 1 9 and 16.
SY Variable immunodeficiency syndrome.
DR MIM; 242860; phenotype.
DR MedGen; C0398788.
DR MeSH; D007153.
DR MeSH; D043171.
//
ID Immunodeficiency-centromeric instability-facial anomalies syndrome 2.
AC DI-03138
AR ICF2.
DE A rare disorder characterized by a variable immunodeficiency resulting
DE in recurrent infections, facial anomalies, and branching of
DE chromosomes 1, 9, and 16. Other variable symptoms include growth
DE retardation, failure to thrive, and psychomotor retardation.
DE Laboratory studies show limited hypomethylation of DNA in a small
DE fraction of the genome in some, but not all, patients.
DR MIM; 614069; phenotype.
DR MedGen; C3279748.
DR MeSH; D007153.
DR MeSH; D043171.
//
ID Immunodeficiency-centromeric instability-facial anomalies syndrome 3.
AC DI-04704
AR ICF3.
DE A rare disorder characterized by a variable immunodeficiency resulting
DE in recurrent infections, facial anomalies, and branching of
DE chromosomes 1, 9, and 16. Other variable symptoms include growth
DE retardation, failure to thrive, and psychomotor retardation.
DE Laboratory studies show limited hypomethylation of DNA in a small
DE fraction of the genome in some, but not all, patients.
DR MIM; 616910; phenotype.
DR MedGen; CN236377.
DR MeSH; D007153.
DR MeSH; D043171.
//
ID Immunodeficiency-centromeric instability-facial anomalies syndrome 4.
AC DI-04705
AR ICF4.
DE A rare disorder characterized by a variable immunodeficiency resulting
DE in recurrent infections, facial anomalies, and branching of
DE chromosomes 1, 9, and 16. Other variable symptoms include growth
DE retardation, failure to thrive, and psychomotor retardation.
DE Laboratory studies show limited hypomethylation of DNA in a small
DE fraction of the genome in some, but not all, patients.
DR MIM; 616911; phenotype.
DR MedGen; CN236378.
DR MeSH; D007153.
DR MeSH; D043171.
//
ID Immunoglobulin A deficiency 2.
AC DI-01814
AR IGAD2.
DE Selective deficiency of immunoglobulin A (IGAD) is the most common
DE form of primary immunodeficiency, with an incidence of approximately 1
DE in 600 individuals in the western world. Individuals with symptomatic
DE IGAD often have deficiency of IgG subclasses or decreased antibody
DE response to carbohydrate antigens such as pneumococcal polysaccharide
DE vaccine. Individuals with IGAD also suffer from recurrent
DE sinopulmonary and gastrointestinal infections and have an increased
DE incidence of autoimmune disorders and of lymphoid and non-lymphoid
DE malignancies. In vitro studies have suggested that some individuals
DE with IGAD have impaired isotype class switching to IgA and others may
DE have a post-switch defect. IGAD and CVID have been known to coexist in
DE families. Some individuals initially present with IGAD1 and then
DE develop CVID. These observations suggest that some cases of IGAD and
DE CVID may have a common etiology.
DR MIM; 609529; phenotype.
DR MedGen; C1836032.
//
ID Immunoglobulin kappa light chain deficiency.
AC DI-03204
AR IGKCD.
DE A disease characterized by the complete absence of immunoglobulin
DE kappa chains.
SY Kappa chain deficiency.
DR MIM; 614102; phenotype.
DR MedGen; C3279824.
DR MeSH; D007153.
//
ID Immunoskeletal dysplasia with neurodevelopmental abnormalities.
AC DI-04990
AR ISDNA.
DE An autosomal recessive disorder characterized by variable skeletal
DE abnormalities and neurodevelopmental defects. Neurologic
DE manifestations include intellectual disability and motor delay. Some
DE patients manifest hypotonia and seizures. Skeletal features include
DE disproportionate short stature, cervical malformations, epiphyseal and
DE metaphyseal dysplasia, and rarely premature craniosynostosis with
DE progressive microcephaly. Severe combined immunodeficiency with a
DE complete absence of T cells is observed in some patients.
DR MIM; 617425; phenotype.
DR MedGen; CN241841.
DR MeSH; D010009.
DR MeSH; D065886.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
//
ID Impaired intellectual development and distinctive facial features with or without cardiac defects.
AC DI-04642
AR MRFACD.
DE An autosomal dominant syndrome characterized by intellectual
DE disability, delayed psychomotor development, profound language
DE impairment, and facial dysmorphism, including frontal bossing,
DE upslanting palpebral fissures, depressed nasal bridge with bulbous
DE tip, and macrostomia. There is variable penetrance of cardiac
DE malformations, ranging from no malformations to patent foramen ovale
DE to septal defects and/or transposition of the great arteries.
SY Asadollahi-Rauch syndrome.
DR MIM; 616789; phenotype.
DR MedGen; CN235106.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Inclusion body myopathy and brain white matter abnormalities.
AC DI-06329
AR IBMWMA.
DE An autosomal dominant, adult-onset disorder characterized
DE predominantly by proximal limb girdle muscle weakness affecting the
DE lower and upper limbs and resulting in gait difficulties and scapular
DE winging. Additional features may include dysarthria, dysphagia, low
DE back pain, and hyporeflexia. Muscle biopsy shows fiber type variation,
DE internal nuclei, rimmed vacuoles, and cytoplasmic protein aggregates
DE or inclusions. Cognitive impairment or frontotemporal dementia occurs
DE in some patients.
SY MSP6.
SY Multisystem proteinopathy 6.
DR MIM; 619733; phenotype.
DR MedGen; CN306476.
DR MeSH; D018979.
DR MeSH; D049288.
DR MeSH; D057180.
//
ID Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1.
AC DI-01817
AR IBMPFD1.
DE An autosomal dominant disease characterized by disabling muscle
DE weakness clinically resembling to limb girdle muscular dystrophy,
DE osteolytic bone lesions consistent with Paget disease, and premature
DE frontotemporal dementia. Clinical features show incomplete penetrance.
SY Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia.
SY Limb-girdle muscular dystrophy with Paget disease of bone.
SY Lower motor neuron degeneration with Paget-like bone disease.
SY Pagetoid amyotrophic lateral sclerosis.
SY Pagetoid neuroskeletal syndrome.
DR MIM; 167320; phenotype.
DR MedGen; C1833662.
DR MeSH; D010001.
DR MeSH; D018979.
DR MeSH; D049288.
DR MeSH; D057180.
//
ID Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2.
AC DI-03892
AR IBMPFD2.
DE An autosomal dominant disease characterized by disabling muscle
DE weakness clinically resembling to limb girdle muscular dystrophy,
DE osteolytic bone lesions consistent with Paget disease, and premature
DE frontotemporal dementia. Clinical features show incomplete penetrance.
SY MSP2.
SY Multisystem proteinopathy 2.
DR MIM; 615422; phenotype.
DR MedGen; C3809468.
DR MedGen; CN180154.
DR MeSH; D010001.
DR MeSH; D018979.
DR MeSH; D049288.
DR MeSH; D057180.
//
ID Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3.
AC DI-03882
AR IBMPFD3.
DE An autosomal dominant disease characterized by disabling muscle
DE weakness clinically resembling to limb girdle muscular dystrophy,
DE osteolytic bone lesions consistent with Paget disease, and premature
DE frontotemporal dementia. Clinical features show incomplete penetrance.
SY MSP3.
SY Multisystem proteinopathy 3.
DR MIM; 615424; phenotype.
DR MedGen; C3809469.
DR MedGen; CN180155.
DR MeSH; D010001.
DR MeSH; D018979.
DR MeSH; D049288.
DR MeSH; D057180.
//
ID Incontinentia pigmenti.
AC DI-00597
AR IP.
DE A genodermatosis usually prenatally lethal in males. In affected
DE females, it causes abnormalities of the skin, hair, eyes, nails,
DE teeth, skeleton, heart, and central nervous system. The prominent skin
DE signs occur in four classic cutaneous stages: perinatal inflammatory
DE vesicles, verrucous patches, a distinctive pattern of
DE hyperpigmentation and dermal scarring.
SY Bloch-Sulzberger syndrome.
SY Familial incontinentia pigmenti male-lethal type.
SY Familial incontinentia pigmenti type II.
SY IP2.
DR MIM; 308300; phenotype.
DR MedGen; C0021171.
DR MedGen; C2930820.
DR MeSH; D007184.
//
ID Indifference to pain, congenital, autosomal recessive.
AC DI-01231
AR CIP.
DE A disorder characterized by congenital inability to perceive any form
DE of pain, in any part of the body. All other sensory modalities are
DE preserved and the peripheral and central nervous systems are
DE apparently intact. Patients perceive the sensations of touch, warm and
DE cold temperature, proprioception, tickle and pressure, but not painful
DE stimuli. There is no evidence of a motor or sensory neuropathy, either
DE axonal or demyelinating.
SY Asymbolia for pain.
SY Channelopathy-associated insensitivity to pain.
SY Congenital analgesia autosomal recessive.
DR MIM; 243000; phenotype.
DR MedGen; C1855739.
DR MeSH; D000699.
//
ID Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development.
AC DI-05490
AR CASGID.
DE An autosomal dominant disease characterized by infantile-onset
DE cataract, erythematic subcutaneous nodules, profound developmental
DE delay, self-injurious behavior, and intracerebral glutamate excess.
DE Histopathologic analysis of skin lesions show deep perivascular and
DE periglandular lymphohistiocytic infiltrates and pronounced
DE leukocytoclasia at the surface of the dermis, focal vacuolar
DE alterations, hyperkeratosis, and parakeratosis of the epidermis.
DR MIM; 618339; phenotype.
DR MedGen; CN258223.
DR MeSH; D001927.
DR MeSH; D002386.
DR MeSH; D012873.
KW KW-0898:Cataract.
//
ID Infantile cerebellar-retinal degeneration.
AC DI-03409
AR ICRD.
DE A severe autosomal recessive neurodegenerative disorder characterized
DE by onset between ages 2 and 6 months of truncal hypotonia, athetosis,
DE seizures, and ophthalmologic abnormalities, particularly optic atrophy
DE and retinal degeneration. Affected individuals show profound
DE psychomotor retardation, with only some achieving rolling, sitting, or
DE recognition of family. Brain MRI shows progressive cerebral and
DE cerebellar degeneration.
DR MIM; 614559; phenotype.
DR MedGen; C3281192.
DR MeSH; D012162.
DR MeSH; D019636.
KW KW-0523:Neurodegeneration.
//
ID Infantile liver failure syndrome 1.
AC DI-03895
AR ILFS1.
DE A life-threatening disorder of hepatic function that manifests with
DE acute liver failure in the first few months of life. Clinical features
DE include anemia, renal tubulopathy, developmental delay, seizures,
DE failure to thrive, and liver steatosis and fibrosis.
DR MIM; 615438; phenotype.
DR MedGen; C3809522.
DR MeSH; D017093.
//
ID Infantile liver failure syndrome 2.
AC DI-04550
AR ILFS2.
DE A form of infantile liver failure syndrome, a life-threatening
DE disorder of hepatic function that manifests with acute liver failure
DE in the first few months of life. Clinical features include anemia,
DE renal tubulopathy, developmental delay, seizures, failure to thrive,
DE and liver steatosis and fibrosis.
DR MIM; 616483; phenotype.
DR MedGen; CN232144.
DR MeSH; D017093.
//
ID Infantile liver failure syndrome 3.
AC DI-05669
AR ILFS3.
DE A form of infantile liver failure syndrome, a life-threatening
DE disorder of hepatic function that manifests with acute liver failure
DE in the first months or years of life. ILFS3 is an autosomal recessive
DE form characterized by recurrent episodes of acute liver failure often
DE triggered by infection or fever. Affected individuals also have
DE skeletal anomalies of the vertebral bodies and femoral heads.
DR MIM; 618641; phenotype.
DR MedGen; CN262533.
DR MeSH; D017093.
//
ID Infantile sialic acid storage disorder.
AC DI-01820
AR ISSD.
DE Severe form of sialic acid storage disease. Affected newborns exhibit
DE visceromegaly, coarse features and failure to thrive immediately after
DE birth. These patients have a shortened life span, usually less than 2
DE years.
SY N-acetylneuraminic acid storage disease.
SY NSD.
DR MIM; 269920; phenotype.
DR MedGen; C1096902.
DR MedGen; C2930923.
//
ID Infantile striatonigral degeneration.
AC DI-01821
AR SNDI.
DE Neurological disorder characterized by symmetrical degeneration of the
DE caudate nucleus, putamen, and occasionally the globus pallidus, with
DE little involvement of the rest of the brain. The clinical features
DE include developmental regression, choreoathetosis, dystonia,
DE spasticity, dysphagia, failure to thrive, nystagmus, optic atrophy,
DE and intellectual disability.
SY Familial striatal degeneration.
SY IBSN.
SY Infantile bilateral striatal necrosis.
DR MIM; 271930; phenotype.
DR MedGen; C0795996.
//
ID Infantile-onset ascending spastic paralysis.
AC DI-01823
AR IAHSP.
DE Characterized by progressive spasticity and weakness of limbs.
DR MIM; 607225; phenotype.
DR MedGen; C1846588.
DR MedGen; C2931441.
//
ID Infections, recurrent, associated with encephalopathy, hepatic dysfunction and cardiovascular malformations.
AC DI-03003
AR IEHDCM.
DE A condition with biological features of autoimmune lymphoproliferative
DE syndrome such as high-circulating CD4(-)CD8(-)TCR-alpha-beta(+) T-cell
DE counts, and elevated IL10 and FASL levels. Affected individuals suffer
DE from recurrent, stereotypical episodes of fever, encephalopathy, and
DE mild liver dysfunction sometimes accompanied by generalized seizures.
DE The episodes can be triggered by varicella zoster virus (VZV), measles
DE mumps rubella (MMR) attenuated vaccine, parainfluenza virus, and
DE Epstein-Barr virus (EBV).
DR MIM; 613759; phenotype.
DR MedGen; C3151062.
DR MeSH; D007160.
//
ID Inflammatory bowel disease 1.
AC DI-01452
AR IBD1.
DE A chronic, relapsing inflammation of the gastrointestinal tract with a
DE complex etiology. It is subdivided into Crohn disease and ulcerative
DE colitis phenotypes. Crohn disease may affect any part of the
DE gastrointestinal tract from the mouth to the anus, but most frequently
DE it involves the terminal ileum and colon. Bowel inflammation is
DE transmural and discontinuous; it may contain granulomas or be
DE associated with intestinal or perianal fistulas. In contrast, in
DE ulcerative colitis, the inflammation is continuous and limited to
DE rectal and colonic mucosal layers; fistulas and granulomas are not
DE observed. Both diseases include extraintestinal inflammation of the
DE skin, eyes, or joints.
SY Crohn disease.
SY Crohn disease-associated growth failure.
SY Inflammatory bowel disease (Crohn disease) 1.
SY Regional enteritis.
SY Ulcerative colitis.
DR MIM; 266600; phenotype.
DR MedGen; C0009324.
DR MedGen; C0010346.
DR MedGen; C0678202.
DR MedGen; C2675113.
DR MeSH; D003093.
DR MeSH; D003424.
//
ID Inflammatory bowel disease 10.
AC DI-02658
AR IBD10.
DE A chronic, relapsing inflammation of the gastrointestinal tract with a
DE complex etiology. It is subdivided into Crohn disease and ulcerative
DE colitis phenotypes. Crohn disease may affect any part of the
DE gastrointestinal tract from the mouth to the anus, but most frequently
DE it involves the terminal ileum and colon. Bowel inflammation is
DE transmural and discontinuous; it may contain granulomas or be
DE associated with intestinal or perianal fistulas. In contrast, in
DE ulcerative colitis, the inflammation is continuous and limited to
DE rectal and colonic mucosal layers; fistulas and granulomas are not
DE observed. Both diseases include extraintestinal inflammation of the
DE skin, eyes, or joints.
SY Inflammatory bowel disease (Crohn disease) 10.
DR MIM; 611081; phenotype.
DR MedGen; C1970207.
DR MeSH; D015212.
//
ID Inflammatory bowel disease 13.
AC DI-02657
AR IBD13.
DE A chronic, relapsing inflammation of the gastrointestinal tract with a
DE complex etiology. It is subdivided into Crohn disease and ulcerative
DE colitis phenotypes. Crohn disease may affect any part of the
DE gastrointestinal tract from the mouth to the anus, but most frequently
DE it involves the terminal ileum and colon. Bowel inflammation is
DE transmural and discontinuous; it may contain granulomas or be
DE associated with intestinal or perianal fistulas. In contrast, in
DE ulcerative colitis, the inflammation is continuous and limited to
DE rectal and colonic mucosal layers; fistulas and granulomas are not
DE observed. Both diseases include extraintestinal inflammation of the
DE skin, eyes, or joints.
DR MIM; 612244; phenotype.
DR MedGen; C2677101.
DR MeSH; D015212.
//
ID Inflammatory bowel disease 14.
AC DI-02656
AR IBD14.
DE A chronic, relapsing inflammation of the gastrointestinal tract with a
DE complex etiology. It is subdivided into Crohn disease and ulcerative
DE colitis phenotypes. Crohn disease may affect any part of the
DE gastrointestinal tract from the mouth to the anus, but most frequently
DE it involves the terminal ileum and colon. Bowel inflammation is
DE transmural and discontinuous; it may contain granulomas or be
DE associated with intestinal or perianal fistulas. In contrast, in
DE ulcerative colitis, the inflammation is continuous and limited to
DE rectal and colonic mucosal layers; fistulas and granulomas are not
DE observed. Both diseases include extraintestinal inflammation of the
DE skin, eyes, or joints.
DR MIM; 612245; phenotype.
DR MedGen; C2677100.
DR MeSH; D015212.
//
ID Inflammatory bowel disease 17.
AC DI-02655
AR IBD17.
DE A chronic, relapsing inflammation of the gastrointestinal tract with a
DE complex etiology. It is subdivided into Crohn disease and ulcerative
DE colitis phenotypes. Crohn disease may affect any part of the
DE gastrointestinal tract from the mouth to the anus, but most frequently
DE it involves the terminal ileum and colon. Bowel inflammation is
DE transmural and discontinuous; it may contain granulomas or be
DE associated with intestinal or perianal fistulas. In contrast, in
DE ulcerative colitis, the inflammation is continuous and limited to
DE rectal and colonic mucosal layers; fistulas and granulomas are not
DE observed. Both diseases include extraintestinal inflammation of the
DE skin, eyes, or joints.
DR MIM; 612261; phenotype.
DR MedGen; C2677091.
DR MeSH; D015212.
//
ID Inflammatory bowel disease 19.
AC DI-03080
AR IBD19.
DE A chronic, relapsing inflammation of the gastrointestinal tract with a
DE complex etiology. It is subdivided into Crohn disease and ulcerative
DE colitis phenotypes. Crohn disease may affect any part of the
DE gastrointestinal tract from the mouth to the anus, but most frequently
DE it involves the terminal ileum and colon. Bowel inflammation is
DE transmural and discontinuous; it may contain granulomas or be
DE associated with intestinal or perianal fistulas. In contrast, in
DE ulcerative colitis, the inflammation is continuous and limited to
DE rectal and colonic mucosal layers; fistulas and granulomas are not
DE observed. Both diseases include extraintestinal inflammation of the
DE skin, eyes, or joints.
SY Inflammatory bowel disease (Crohn disease) 19.
DR MIM; 612278; phenotype.
DR MedGen; C2677079.
DR MeSH; D015212.
//
ID Inflammatory bowel disease 25, autosomal recessive.
AC DI-02673
AR IBD25.
DE A chronic, relapsing inflammation of the gastrointestinal tract with a
DE complex etiology. It is subdivided into Crohn disease and ulcerative
DE colitis phenotypes. Crohn disease may affect any part of the
DE gastrointestinal tract from the mouth to the anus, but most frequently
DE it involves the terminal ileum and colon. Bowel inflammation is
DE transmural and discontinuous; it may contain granulomas or be
DE associated with intestinal or perianal fistulas. In contrast, in
DE ulcerative colitis, the inflammation is continuous and limited to
DE rectal and colonic mucosal layers; fistulas and granulomas are not
DE observed. Both diseases include extraintestinal inflammation of the
DE skin, eyes, or joints.
SY Early-onset autosomal recessive inflammatory bowel disease.
DR MIM; 612567; phenotype.
DR MedGen; C2675508.
DR MeSH; D015212.
//
ID Inflammatory bowel disease 28, autosomal recessive.
AC DI-02674
AR IBD28.
DE A chronic, relapsing inflammation of the gastrointestinal tract with a
DE complex etiology. It is subdivided into Crohn disease and ulcerative
DE colitis phenotypes. Crohn disease may affect any part of the
DE gastrointestinal tract from the mouth to the anus, but most frequently
DE it involves the terminal ileum and colon. Bowel inflammation is
DE transmural and discontinuous; it may contain granulomas or be
DE associated with intestinal or perianal fistulas. In contrast, in
DE ulcerative colitis, the inflammation is continuous and limited to
DE rectal and colonic mucosal layers; fistulas and granulomas are not
DE observed. Both diseases include extraintestinal inflammation of the
DE skin, eyes, or joints.
SY Early-onset autosomal recessive inflammatory bowel disease.
DR MIM; 613148; phenotype.
DR MedGen; C2751053.
DR MeSH; D015212.
//
ID Inflammatory bowel disease 29.
AC DI-05306
AR IBD29.
DE A chronic, relapsing inflammation of the gastrointestinal tract with a
DE complex etiology. It is subdivided into Crohn disease and ulcerative
DE colitis phenotypes. Crohn disease may affect any part of the
DE gastrointestinal tract from the mouth to the anus, but most frequently
DE it involves the terminal ileum and colon. Bowel inflammation is
DE transmural and discontinuous; it may contain granulomas or be
DE associated with intestinal or perianal fistulas. In contrast, in
DE ulcerative colitis, the inflammation is continuous and limited to
DE rectal and colonic mucosal layers; fistulas and granulomas are not
DE observed. Both diseases include extraintestinal inflammation of the
DE skin, eyes, or joints.
DR MIM; 618077; phenotype.
DR MedGen; CN252686.
DR MeSH; D015212.
//
ID Inflammatory bowel disease 30.
AC DI-05954
AR IBD30.
DE A chronic, relapsing inflammation of the gastrointestinal tract with a
DE complex etiology and a multifactorial inheritance pattern. It is
DE subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn
DE disease may affect any part of the gastrointestinal tract from the
DE mouth to the anus, but most frequently it involves the terminal ileum
DE and colon. Bowel inflammation is transmural and discontinuous; it may
DE contain granulomas or be associated with intestinal or perianal
DE fistulas. In contrast, in ulcerative colitis, the inflammation is
DE continuous and limited to rectal and colonic mucosal layers; fistulas
DE and granulomas are not observed. Both diseases include extraintestinal
DE inflammation of the skin, eyes, or joints.
DR MIM; 619079; phenotype.
DR MedGen; CN293414.
DR MeSH; D015212.
//
ID Inflammatory bowel disease 31, autosomal recessive.
AC DI-06149
AR IBD31.
DE A form of inflammatory bowel disease, a chronic, relapsing
DE inflammation of the gastrointestinal tract with a complex etiology and
DE a multifactorial inheritance pattern. It is subdivided into Crohn
DE disease and ulcerative colitis phenotypes. Crohn disease may affect
DE any part of the gastrointestinal tract from the mouth to the anus, but
DE most frequently it involves the terminal ileum and colon. Bowel
DE inflammation is transmural and discontinuous; it may contain
DE granulomas or be associated with intestinal or perianal fistulas. In
DE contrast, in ulcerative colitis, the inflammation is continuous and
DE limited to rectal and colonic mucosal layers; fistulas and granulomas
DE are not observed. Both diseases include extraintestinal inflammation
DE of the skin, eyes, or joints. IBD31 patients suffer from infantile
DE ulcerative colitis and present with recurrent bloody diarrhea with
DE anemia and leukocytosis, extensive lymphoplasmocytic infiltration,
DE cryptitis, and apoptotic crypt abcesses throughout the colon and
DE rectum.
SY Inflammatory bowel disease, early-onset, autosomal recessive.
SY Inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive.
DR MIM; 619398; phenotype.
DR MedGen; CN299111.
DR MeSH; D015212.
//
ID Inflammatory bowel disease, immunodeficiency, and encephalopathy.
AC DI-05431
AR IBDIMDE.
DE An autosomal recessive disorder characterized by severe infantile
DE inflammatory bowel disease manifesting as bloody diarrhea and failure
DE to thrive, global developmental delay, epilepsy, brain atrophy and
DE encephalopathy. Affected individuals suffer from recurrent infections
DE associated with impaired T-cell response to stimulation and decreased
DE T-cell subsets, including regulatory and helper T cells.
DR MIM; 618213; phenotype.
DR MedGen; CN257492.
DR MeSH; D001927.
DR MeSH; D003424.
DR MeSH; D007153.
//
ID Inflammatory demyelinating polyneuropathy.
AC DI-01824
AR IDP.
DE Putative autoimmune disorder presenting in an acute (AIDP) or chronic
DE form (CIDP). The acute form is also known as Guillain-Barre syndrome.
DR MIM; 139393; phenotype.
DR MedGen; C0018378.
DR MedGen; C0393819.
DR MedGen; C1841700.
//
ID Inflammatory skin and bowel disease, neonatal, 1.
AC DI-03306
AR NISBD1.
DE A disorder characterized by inflammatory features with neonatal onset,
DE involving the skin, hair, and gut. The skin lesions involve perioral
DE and perianal erythema, psoriasiform erythroderma, with flares of
DE erythema, scaling, and widespread pustules. Gastrointestinal symptoms
DE include malabsorptive diarrhea that is exacerbated by intercurrent
DE gastrointestinal infections. The hair is short or broken, and the
DE eyelashes and eyebrows are wiry and disorganized.
DR MIM; 614328; phenotype.
DR MedGen; C3280501.
DR MeSH; D012873.
DR MeSH; D015212.
//
ID Inflammatory skin and bowel disease, neonatal, 2.
AC DI-04271
AR NISBD2.
DE A disorder characterized by inflammatory features with neonatal onset,
DE involving the skin, hair, and gut. The skin lesions involve perioral
DE and perianal erythema, psoriasiform erythroderma, with flares of
DE erythema, scaling, and widespread pustules. Gastrointestinal symptoms
DE include malabsorptive diarrhea that is exacerbated by intercurrent
DE gastrointestinal infections. The hair is short or broken, and the
DE eyelashes and eyebrows are wiry and disorganized.
DR MIM; 616069; phenotype.
DR MedGen; CN220784.
DR MeSH; D012873.
DR MeSH; D015212.
//
ID Inosine triphosphate pyrophosphohydrolase deficiency.
AC DI-01825
AR ITPAD.
DE A common inherited condition characterized by the abnormal
DE accumulation of inosine triphosphate in erythrocytes. It might have
DE pharmacogenomic implications and be related to increased drug toxicity
DE of purine analog drugs.
DR MIM; 613850; phenotype.
DR MedGen; C0342800.
DR MedGen; C1840173.
DR MeSH; D008661.
//
ID Insulin-like growth factor 1 resistance.
AC DI-02747
AR IGF1RES.
DE A disorder characterized by intrauterine growth retardation, poor
DE postnatal growth and increased plasma IGF1 levels.
SY End-organ insensitivity to somatomedin.
SY IGF1 resistance.
SY Resistance to insulin-like growth factor I.
SY Resistance to somatomedin-C.
DR MIM; 270450; phenotype.
DR MedGen; C1849157.
DR MedGen; C1849158.
DR MeSH; D006130.
//
ID Insulin-like growth factor I deficiency.
AC DI-01827
AR IGF1 deficiency.
DE Autosomal recessive disorder characterized by growth retardation,
DE sensorineural deafness and intellectual disability.
DR MIM; 608747; phenotype.
DR MedGen; C1837475.
//
ID Insulin-resistant diabetes mellitus with acanthosis nigricans type A.
AC DI-01828
AR IRAN type A.
DE Characterized by the association of severe insulin resistance
DE (manifested by marked hyperinsulinemia and a failure to respond to
DE exogenous insulin) with the skin lesion acanthosis nigricans and
DE ovarian hyperandrogenism in adolescent female subjects. Women
DE frequently present with hirsutism, acne, amenorrhea or oligomenorrhea,
DE and virilization. This syndrome is different from the type B that has
DE been demonstrated to be secondary to the presence of circulating
DE autoantibodies against the insulin receptor.
DR MIM; 610549; phenotype.
DR MedGen; C0271690.
DR MedGen; C0342278.
//
ID Insulinomatosis and diabetes mellitus.
AC DI-05201
AR INSDM.
DE An autosomal dominant disorder characterized by the occurrence of
DE multicentric insulinomas, hyperinsulinemic hypoglycemia, non insulin-
DE dependent diabetes mellitus, and impaired glucose tolerance. Some
DE patients also exhibit congenital cataract and/or congenital glaucoma.
SY Islet cell adenomatosis.
DR MIM; 147630; phenotype.
DR MedGen; C1578917.
DR MeSH; D007516.
KW KW-0219:Diabetes mellitus.
//
ID Intellectual developmental disorder and hypogonadotropic hypogonadism.
AC DI-06110
AR IDDHH.
DE An autosomal recessive disorder characterized by obesity, intellectual
DE disability, and hypogonadotropic hypogonadism. Additional variable
DE features include central hypothyroidism, hypotonia, and developmental
DE delay.
DR MIM; 619326; phenotype.
DR MedGen; CN296785.
DR MeSH; D007006.
DR MeSH; D008607.
KW KW-0550:Obesity.
KW KW-0991:Intellectual disability.
KW KW-1016:Hypogonadotropic hypogonadism.
//
ID Intellectual developmental disorder and retinitis pigmentosa.
AC DI-05391
AR IDDRP.
DE An autosomal recessive disease characterized by mild to moderate
DE intellectual disability, retinitis pigmentosa, and attention-deficit
DE hyperactivity disorder observed in some patients.
DR MIM; 618195; phenotype.
DR MedGen; CN257481.
DR MeSH; D008607.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature.
AC DI-05504
AR IDDABS.
DE An autosomal recessive disorder characterized by intellectual
DE disability, developmental delay with poor or absent speech, short
DE stature, progressive microcephaly, hyperactivity and aggressive
DE behavior. Some patients manifest sensorineural hearing loss.
DR MIM; 618342; phenotype.
DR MedGen; CN258232.
DR MeSH; D000015.
DR MeSH; D065886.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder with autism and speech delay.
AC DI-05442
AR IDDAS.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE varying degrees of intellectual disability, autism spectrum disorder,
DE and language deficits.
SY Autism 5.
SY Autism-related speech delay.
SY AUTS5.
SY Phrase speech delay, autism-related.
DR MIM; 606053; phenotype.
DR MedGen; C1853755.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
KW KW-1268:Autism spectrum disorder.
//
ID Intellectual developmental disorder with autistic features and language delay, with or without seizures.
AC DI-05852
AR IDDALDS.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE global developmental delay, varying degrees of intellectual
DE disability, autism spectrum disorder, and delayed language. Some
DE patients develop seizures.
DR MIM; 618906; phenotype.
DR MedGen; CN282600.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
KW KW-1268:Autism spectrum disorder.
//
ID Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures.
AC DI-05723
AR IDDBCS.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE impaired intellectual development, developmental delay of varying
DE severity, impaired motor skills and language delay. Additional
DE clinical features include macrocephaly, obesity, overgrowth,
DE craniofacial dysmorphism, epilepsy, and variable behavioral
DE manifestations including autism and attention deficit hyperactivity
DE disorder.
SY NEDMS.
SY Neurodevelopmental disorder with macrocephaly and with or without seizures.
DR MIM; 618725; phenotype.
DR MedGen; CN263095.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder with cardiac arrhythmia.
AC DI-04883
AR IDDCA.
DE An autosomal recessive multisystem disorder characterized by delayed
DE psychomotor development, severe intellectual disability with poor or
DE absent speech, and bradycardia and/or cardiac sinus arrhythmias.
DE Additional features include visual abnormalities, seizures, hypotonia,
DE and gastric reflux.
DR MIM; 617173; phenotype.
DR MedGen; CN239052.
DR MeSH; D000015.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder with cardiac defects and dysmorphic facies.
AC DI-05469
AR IDDCDF.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE global developmental delay, intellectual disability, congenital heart
DE malformations, and facial dysmorphism. Dysmorphic features include
DE triangular face, deep set eyes, broad nasal root and tip and
DE anteverted nostrils, thick arched eye brows, hypertrichosis, pointed
DE chin, and hypertelorism.
DR MIM; 618316; phenotype.
DR MedGen; CN258197.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities.
AC DI-05311
AR IDDFBA.
DE An autosomal dominant developmental disorder with variable
DE manifestations and onset in infancy or first years of life. Clinical
DE features include intellectual disability, speech delay, hyperkinetic
DE disorder, hyperactivity, seizures, pre- and postnatal growth
DE retardation, microcephaly, and facial dysmorphism.
DR MIM; 618089; phenotype.
DR MedGen; CN252702.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder with dysmorphic facies and ptosis.
AC DI-04946
AR IDDDFP.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE delayed psychomotor development, intellectual disability, delayed
DE language, and facial dysmorphisms, most notably ptosis. Additional
DE features may include poor growth, hypotonia, and seizures.
DR MIM; 617333; phenotype.
DR MedGen; CN240506.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies.
AC DI-04997
AR IDDFSDA.
DE An autosomal recessive severe multisystem disorder characterized by
DE poor overall growth, developmental delay, early-onset seizures,
DE intellectual disability, and dysmorphic features. Additional features
DE include microcephaly, absent speech, hypotonia, feeding difficulties,
DE structural brain abnormalities, congenital malformations including
DE congenital heart disease, and musculoskeletal features.
DR MIM; 617452; phenotype.
DR MedGen; CN243958.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies.
AC DI-05919
AR IDDEBF.
DE An autosomal recessive neurodevelopmental disorder that manifests in
DE early infancy with infantile spasms and developmental delay. Clinical
DE features include severely impaired intellectual development, epilepsy,
DE autism, hyperactivity and other behavioral problems, and coarse
DE facies. Brain MRI findings may include delayed myelination in the deep
DE parietal lobes.
DR MIM; 619031; phenotype.
DR MedGen; CN283365.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder with hypertelorism and distinctive facies.
AC DI-05352
AR IDDHDF.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE developmental delay and intellectual disability, language defects, and
DE distinctive facial dysmorphism including high hairline, hypertelorism,
DE thin eyebrows, dysmorphic ears, broad nasal bridge and tip, and narrow
DE jaw.
DR MIM; 618147; phenotype.
DR MedGen; CN257739.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder with hypotonia and behavioral abnormalities.
AC DI-05741
AR IDDHBA.
DE An autosomal dominant neurodevelopmental disorder with onset in
DE infancy. IDDHBA is characterized by hypotonia, global developmental
DE delay, learning disability, and behavioral abnormalities, such as
DE autistic features and attention deficit-hyperactivity disorder.
DE Additional variable features may include non-specific facial
DE dysmorphism, congenital heart defects, ocular anomalies, and poor
DE feeding.
DR MIM; 618748; phenotype.
DR MedGen; CN263213.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
KW KW-1268:Autism spectrum disorder.
//
ID Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies.
AC DI-06250
AR IDDHISD.
DE An autosomal dominant disorder characterized by global developmental
DE delay, impaired intellectual development, poor or absent speech,
DE hypotonia, ophthalmologic abnormalities, and non-specific dysmorphic
DE features. Some affected individuals have seizures, and a few have
DE involvement of other organ systems.
DR MIM; 619556; phenotype.
DR MedGen; CN300808.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder with impaired language and dysmorphic facies.
AC DI-05699
AR IDDILF.
DE An autosomal dominant disorder characterized by intellectual
DE disability, developmental delay, impaired language development, and
DE dysmorphic features including telecanthus, epicanthus, arched eyebrows
DE and low-set ears. Additional features include feeding difficulties,
DE mild cardiac or genitourinary defects, and distal skeletal anomalies.
DR MIM; 618653; phenotype.
DR MedGen; CN262664.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder with macrocephaly, seizures, and speech delay.
AC DI-05360
AR IDDMSSD.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE impaired intellectual development, poor speech, postnatal
DE macrocephaly, and seizures.
DR MIM; 618158; phenotype.
DR MedGen; CN257751.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia.
AC DI-00709
AR MICPCH.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. Affected
DE individuals can manifest a severe phenotype consisting of severe
DE intellectual deficit, congenital or postnatal microcephaly,
DE disproportionate brainstem and cerebellar hypoplasia. A milder
DE phenotype consists of intellectual disability alone or associated with
DE nystagmus.
SY Intellectual developmental disorder, X-linked, syndromic, Najm type.
SY MICPCH syndrome.
SY MRXSNA.
DR MIM; 300749; phenotype.
DR MedGen; C2677903.
DR MedGen; C2749054.
DR MedGen; C2749055.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies.
AC DI-05672
AR IDNADFS.
DE An autosomal dominant disorder characterized by delayed development,
DE speech delay with nasal speech, and characteristic facial features
DE including upslanted palpebral fissures, anteverted nares, a thin upper
DE lip, and micrognathia. Some patients may have skeletal anomalies, such
DE as brachydactyly, toe syndactyly and flat feet.
DR MIM; 618608; phenotype.
DR MedGen; CN262377.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder with neuropsychiatric features.
AC DI-05022
AR IDDNPF.
DE An autosomal recessive disorder characterized by moderate to severe
DE intellectual disability, epilepsy, and variable neuropsychiatric
DE features, such as anxiety, obsessive-compulsive behavior, and autistic
DE features. Mild facial dysmorphism may also be present.
DR MIM; 617532; phenotype.
DR MedGen; CN277733.
DR MeSH; D001523.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder with or without epilepsy or cerebellar ataxia.
AC DI-05291
AR IDDECA.
DE An autosomal dominant neurodevelopmental disorder that manifests with
DE variable features of mild-to-severe intellectual disability,
DE developmental delay, autism spectrum disorder, cerebellar ataxia and
DE epilepsy.
DR MIM; 618060; phenotype.
DR MedGen; CN252646.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder with paroxysmal dyskinesia or seizures.
AC DI-06007
AR IDDPADS.
DE An autosomal recessive disorder characterized by global developmental
DE delay, impaired intellectual development, language delay, and early-
DE onset paroxysmal hyperkinetic movement disorder that manifests as
DE sudden falls or backward propulsion, eye or head deviation, and
DE dystonic limb posturing followed by chorea and dyskinetic movements.
DE Some patients may also develop epileptic seizures or only have
DE seizures without a movement disorder.
DR MIM; 619150; phenotype.
DR MedGen; CN295212.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder with persistence of fetal hemoglobin.
AC DI-04812
AR IDPFH.
DE An autosomal dominant disorder characterized by delayed psychomotor
DE development, intellectual disability, variable dysmorphic features,
DE including microcephaly, downslanting palpebral fissures, strabismus,
DE and external ear abnormalities, and asymptomatic persistence of fetal
DE hemoglobin.
SY Dias-Logan syndrome.
SY Intellectual developmental disorder with hereditary persistence of fetal hemoglobin.
DR MIM; 617101; phenotype.
DR MedGen; CN238097.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder with poor growth and with or without seizures or ataxia.
AC DI-05788
AR IDPOGSA.
DE An autosomal recessive disorder characterized by global developmental
DE delay apparent from infancy, impaired intellectual development,
DE hypotonia, and poor overall growth with microcephaly. Additional
DE variable features include dysmorphic features, cataracts, ataxia and
DE seizures.
DR MIM; 618808; phenotype.
DR MedGen; CN263395.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder with seizures and language delay.
AC DI-05906
AR IDDSELD.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE mild to profound intellectual development impairment, speech and
DE language delay, and seizures. Autism and anxiety are common features.
DE Facial dysmorphism, tapering fingers, and pigmentary skin changes may
DE also be observed.
DR MIM; 619000; phenotype.
DR MedGen; CN283345.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder with severe speech and ambulation defects.
AC DI-05593
AR IDDSSAD.
DE An autosomal dominant neurodevelopmental disorder with onset in
DE infancy, and characterized by global developmental delay, intellectual
DE disability, ambulation deficits, severe language impairment, and minor
DE dysmorphic features including a wide mouth, diastema, and bulbous
DE nose. Additional manifestations are spasticity, hypotonia and autistic
DE features including stereotypies. Brain imaging show thin corpus
DE callosum, generalized atrophy, and mild periventricular gliosis.
DR MIM; 618470; phenotype.
DR MedGen; CN260165.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder with short stature and behavioral abnormalities.
AC DI-05712
AR IDDSSBA.
DE An autosomal recessive disorder with onset in infancy and
DE characterized by intellectual disability, developmental delay, short
DE stature, aphasia, and hypotonia. Additional features include seizures
DE and behavioral abnormalities, such as inattention, hyperactivity and
DE aggression.
DR MIM; 618687; phenotype.
DR MedGen; CN262929.
DR MeSH; D065886.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder with short stature and variable skeletal anomalies.
AC DI-05577
AR IDDSSA.
DE An autosomal recessive disorder characterized by severe intellectual
DE disability, speech and language impairment, developmental delay, and
DE cardiac, thyroid and skeletal abnormalities. Skeletal features include
DE short stature, camptodactyly, fifth finger clinodactyly, thumb
DE hypoplasia, overlapping toes, and kyphosis or lumbar vertebral
DE abnormalities.
DR MIM; 618453; phenotype.
DR MedGen; CN258817.
DR MeSH; D001848.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder with short stature, facial anomalies, and speech defects.
AC DI-05547
AR IDDSFAS.
DE An autosomal recessive disorder characterized by global developmental
DE delay, mildly to severely impaired intellectual development, delayed
DE or slurred speech, and short stature. Dysmorphic features included a
DE large bulbous nose and variable microretrognathia. Some patients show
DE joint hyperlaxity and dislocations.
DR MIM; 606220; phenotype.
DR MedGen; C1853507.
DR MeSH; D000015.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder with speech delay and axonal peripheral neuropathy.
AC DI-05972
AR IDDSAPN.
DE An autosomal recessive disorder characterized by mild global
DE developmental delay, mild to moderate intellectual disability, motor
DE impairment, unsteady or ataxic gait, and severe speech delay apparent
DE in the first years of life. Signs of a peripheral axonal neuropathy,
DE including progressive distal muscle weakness and atrophy of the lower
DE limbs, foot and hand deformities, and dysarthria, are observed in most
DE patients. Some patients may have autistic features or attention
DE deficit-hyperactivity disorder.
DR MIM; 619099; phenotype.
DR MedGen; CN293533.
DR MeSH; D065886.
KW KW-0622:Neuropathy.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder with speech delay, autism and dysmorphic facies.
AC DI-05707
AR IDDSADF.
DE An autosomal dominant disorder characterized by mild to severe
DE intellectual disability, developmental delay, delayed or absent
DE speech, hypotonia, short stature, autistic features, and highly
DE variable dysmorphic facial features.
DR MIM; 618672; phenotype.
DR MedGen; CN262923.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder with speech delay, dysmorphic facies, and T-cell abnormalities.
AC DI-05315
AR IDDSFTA.
DE An autosomal dominant developmental disorder with onset in first
DE months of life, and characterized by delayed psychomotor development
DE with intellectual disability and speech delay. Additional features
DE include autistic features, attention deficit-hyperactivity disorder,
DE anxiety, and other behavioral abnormalities. Some patients suffer from
DE recurrent infections, asthma and allergies.
DR MIM; 618092; phenotype.
DR MedGen; CN253429.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 1.
AC DI-00710
AR MRD1.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
DR MIM; 156200; phenotype.
DR MedGen; C1969562.
DR MedGen; C3277090.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 10.
AC DI-03253
AR MRD10.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
DR MIM; 614256; phenotype.
DR MedGen; C3280284.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 11.
AC DI-03254
AR MRD11.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
DR MIM; 614257; phenotype.
DR MedGen; C3280285.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 13.
AC DI-03425
AR MRD13.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRD13 is
DE associated with variable neuronal migration defects and mild
DE dysmorphic features. Some patients may also show signs of peripheral
DE neuropathy, such as abnormal gait and hyporeflexia.
DR MIM; 614563; phenotype.
DR MedGen; C3281202.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 2.
AC DI-03185
AR MRD2.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
DR MIM; 614113; phenotype.
DR MedGen; C3279842.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 21.
AC DI-03927
AR MRD21.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. Additional
DE MRD21 features include short stature, microcephaly, and developmental
DE delay.
DR MIM; 615502; phenotype.
DR MedGen; C3809686.
DR MedGen; CN180640.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 22.
AC DI-03970
AR MRD22.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. Additional
DE MRD22 patients have limited or no speech, and variable but
DE characteristic facial features, including round face, prominent
DE forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-
DE set ears. Other features may include hypotonia, poor growth,
DE microcephaly, agenesis of the corpus callosum, and seizures.
DR MIM; 612337; phenotype.
DR MedGen; C2676727.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 23.
AC DI-04067
AR MRD23.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRD23
DE patients manifest moderate to severe intellectual disability with
DE additional variable features of brachycephaly, a low hairline,
DE depressed nasal bridge, prominent high nasal root, tubular nose,
DE upslanting palpebral fissures, long and smooth philtrum, micrognathia,
DE thin upper lip, and crowded teeth. Behavioral problems, including
DE obsessive-compulsive disorder, hand flapping with ritualized behavior,
DE and autism, are prominent features.
DR MIM; 615761; phenotype.
DR MedGen; C3810406.
DR MedGen; CN186200.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
KW KW-1269:Autism.
//
ID Intellectual developmental disorder, autosomal dominant 26.
AC DI-04120
AR MRD26.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. Additional
DE MRD26 features include autism, short stature, microcephaly, cerebral
DE palsy, and facial dysmorphisms.
DR MIM; 615834; phenotype.
DR MedGen; CN188274.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
KW KW-1269:Autism.
//
ID Intellectual developmental disorder, autosomal dominant 29.
AC DI-04252
AR MRD29.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRD29
DE patients manifest severe intellectual disability, behavioral
DE difficulties, speech and motor delays, and dysmorphic facial features.
DR MIM; 616078; phenotype.
DR MedGen; CN220547.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 3.
AC DI-00711
AR MRD3.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
DR MIM; 612580; phenotype.
DR MedGen; C2675488.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 30.
AC DI-04257
AR MRD30.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRD30
DE patients manifest mild intellectual disability and subtle facial
DE dysmorphisms, including hypertelorism, ptosis, and a wide mouth.
DR MIM; 616083; phenotype.
DR MedGen; CN220924.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 33.
AC DI-04391
AR MRD33.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRD33
DE patients manifest microcephaly in addition to intellectual disability.
DR MIM; 616311; phenotype.
DR MedGen; CN229530.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 34.
AC DI-04418
AR MRD34.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
DR MIM; 616351; phenotype.
DR MedGen; CN230269.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 35.
AC DI-04419
AR MRD35.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
DR MIM; 616355; phenotype.
DR MedGen; CN230312.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 36.
AC DI-04420
AR MRD36.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
DR MIM; 616362; phenotype.
DR MedGen; CN230319.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 38.
AC DI-04443
AR MRD38.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRD38 common
DE features are severe intellectual disability, autistic behavior, absent
DE speech, neonatal hypotonia, epilepsy and progressive microcephaly.
SY PRELDS.
SY Psychomotor retardation, epilepsy, and language disability syndrome.
DR MIM; 616393; phenotype.
DR MedGen; CN231146.
DR MeSH; D008607.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
KW KW-1268:Autism spectrum disorder.
//
ID Intellectual developmental disorder, autosomal dominant 39.
AC DI-04498
AR MRD39.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRD39
DE patients show delayed psychomotor development and autistic features.
DR MIM; 616521; phenotype.
DR MedGen; CN232386.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
KW KW-1268:Autism spectrum disorder.
//
ID Intellectual developmental disorder, autosomal dominant 4.
AC DI-00712
AR MRD4.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
DR MIM; 612581; phenotype.
DR MedGen; C2675487.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 40.
AC DI-04513
AR MRD40.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
DR MIM; 616579; phenotype.
DR MedGen; CN233017.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 41.
AC DI-04716
AR MRD41.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRD41
DE patients manifest delayed psychomotor development, variable severity
DE of intellectual disability, and delayed language. Non-specific
DE dysmorphic features and autistic behavior is observed in some
DE patients.
DR MIM; 616944; phenotype.
DR MedGen; C4310784.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 42.
AC DI-04731
AR MRD42.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRD42
DE patients manifest global developmental delay commonly accompanied by
DE hypotonia, seizures of various types, ophthalmological manifestations,
DE and poor growth.
DR MIM; 616973; phenotype.
DR MedGen; CN236792.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 43.
AC DI-04747
AR MRD43.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRD43
DE patients manifest developmental delay, intellectual disability,
DE hypotonia, and dysmorphic features.
DR MIM; 616977; phenotype.
DR MedGen; CN236789.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 44, with microcephaly.
AC DI-04798
AR MRD44.
DE A disorder characterized by developmental delay, variable intellectual
DE disability, distinctive facial features, and abnormalities of the
DE fingers. Most patients also have microcephaly.
DR MIM; 617061; phenotype.
DR MedGen; CN237804.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 45.
AC DI-05061
AR MRD45.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRD45
DE patients manifest developmental delay, variable intellectual
DE disability, and behavioral disorders, including autistic features,
DE attention deficit, and hyperactivity.
DR MIM; 617600; phenotype.
DR MedGen; CN368509.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 46.
AC DI-05062
AR MRD46.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRD46
DE patients manifest developmental delay and mild to moderate
DE intellectual disability.
DR MIM; 617601; phenotype.
DR MedGen; CN371052.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 47.
AC DI-05063
AR MRD47.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRD47
DE patients manifest developmental delay and mild to moderate
DE intellectual disability, usually with delayed speech.
DR MIM; 617635; phenotype.
DR MedGen; CN429988.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 48.
AC DI-05131
AR MRD48.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRD48
DE patients manifest global developmental delay and moderate to severe
DE intellectual disability.
DR MIM; 617751; phenotype.
DR MedGen; CN580791.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 5.
AC DI-00713
AR MRD5.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRD5 patients
DE show global developmental delay with delayed motor development,
DE hypotonia, moderate-to-severe intellectual disability, and severe
DE language impairment. Epilepsy and autism can be present in some
DE patients.
DR MIM; 612621; phenotype.
DR MedGen; C2675473.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities.
AC DI-05151
AR MRD50.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
DR MIM; 617787; phenotype.
DR MedGen; CN671930.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 51.
AC DI-05152
AR MRD51.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
DR MIM; 617788; phenotype.
DR MedGen; CN671931.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 52.
AC DI-05153
AR MRD52.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
DR MIM; 617796; phenotype.
DR MedGen; CN671932.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 53.
AC DI-05154
AR MRD53.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
DR MIM; 617798; phenotype.
DR MedGen; CN677078.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 54.
AC DI-05155
AR MRD54.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
DR MIM; 617799; phenotype.
DR MedGen; CN679648.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 55, with seizures.
AC DI-05178
AR MRD55.
DE A form of intellectual disability, a disorder characterized by
DE significantly below average general intellectual functioning
DE associated with impairments in adaptive behavior and manifested during
DE the developmental period. MRD55 patients suffer from seizures
DE appearing during the first years of life.
DR MIM; 617831; phenotype.
DR MedGen; CN757796.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 56.
AC DI-05186
AR MRD56.
DE A form of intellectual disability, a disorder characterized by
DE significantly below average general intellectual functioning
DE associated with impairments in adaptive behavior and manifested during
DE the developmental period.
DR MIM; 617854; phenotype.
DR MedGen; CN787270.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 57.
AC DI-05289
AR MRD57.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRD57 is
DE characterized by delayed psychomotor development apparent in infancy
DE or early childhood, and a variety of behavioral abnormalities.
DE Affected individuals may have severe gastro-intestinal problems, and
DE facial dysmorphism.
DR MIM; 618050; phenotype.
DR MedGen; CN252334.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 58.
AC DI-05326
AR MRD58.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRD58
DE patients show delayed development, intellectual disability, language
DE delay and speech impairment. Some patients have motor delay or
DE incoordination, and minor dysmorphic features.
DR MIM; 618106; phenotype.
DR MedGen; CN253713.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 59.
AC DI-05622
AR MRD59.
DE An autosomal dominant form of intellectual disability, a disorder
DE characterized by significantly below average general intellectual
DE functioning associated with impairments in adaptive behavior and
DE manifested during the developmental period.
DR MIM; 618522; phenotype.
DR MedGen; CN262170.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 6, with or without seizures.
AC DI-03128
AR MRD6.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRD6
DE additional features may include seizures, hypotonia, abnormal
DE movements, such as dystonia, and autistic features.
DR MIM; 613970; phenotype.
DR MedGen; C3151411.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 60, with seizures.
AC DI-05662
AR MRD60.
DE An autosomal dominant disorder characterized by global developmental
DE delay apparent in the first six months of life, followed by onset of
DE seizures between 21 months and 4 years. Disease features include
DE moderate-to-severe intellectual disability, poor speech, delayed
DE walking, and ataxia.
DR MIM; 618587; phenotype.
DR MedGen; CN262318.
DR MeSH; D008607.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 61.
AC DI-05748
AR MRD61.
DE An autosomal dominant form of intellectual disability, a disorder
DE characterized by significantly below average general intellectual
DE functioning associated with impairments in adaptive behavior and
DE manifested during the developmental period. MRD61 is characterized by
DE global developmental delay apparent in infancy with mildly impaired
DE intellectual development, expressive speech delay, and behavioral
DE abnormalities, including autism spectrum disorder and attention
DE deficit-hyperactivity disorder. Additional features are highly
DE variable and may include non-specific dysmorphic features,
DE obstipation, ocular anomalies, and poor overall growth.
DR MIM; 618009; phenotype.
DR MedGen; CN263231.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 62.
AC DI-05770
AR MRD62.
DE An autosomal dominant form of intellectual disability, a disorder
DE characterized by significantly below average general intellectual
DE functioning associated with impairments in adaptive behavior and
DE manifested during the developmental period. MRD62 is characterized by
DE mild to moderately impaired intellectual development.
DR MIM; 618793; phenotype.
DR MedGen; CN263332.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 63, with macrocephaly.
AC DI-05777
AR MRD63.
DE An autosomal dominant form of intellectual disability, a disorder
DE characterized by significantly below average general intellectual
DE functioning associated with impairments in adaptive behavior and
DE manifested during the developmental period. MRD63 is characterized by
DE moderate to severe impaired intellectual development with poor or
DE absent speech, global developmental delay, and variable behavioral
DE abnormalities. Variable dysmorphic features are preset in half of the
DE patients.
DR MIM; 618825; phenotype.
DR MedGen; CN263464.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 64.
AC DI-06050
AR MRD64.
DE An autosomal dominant form of intellectual disability, a disorder
DE characterized by significantly below average general intellectual
DE functioning associated with impairments in adaptive behavior and
DE manifested during the developmental period. MRD64 is characterized by
DE mildly to severely impaired intellectual development, speech delay,
DE and autism spectrum disorder in most patients. Additional variable
DE features may include motor delay, attention deficit-hyperactivity
DE disorder, and non-specific dysmorphic features.
DR MIM; 619188; phenotype.
DR MedGen; CN295315.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
KW KW-1268:Autism spectrum disorder.
//
ID Intellectual developmental disorder, autosomal dominant 65.
AC DI-06105
AR MRD65.
DE An autosomal dominant form of intellectual disability, a disorder
DE characterized by significantly below average general intellectual
DE functioning associated with impairments in adaptive behavior and
DE manifested during the developmental period. MRD65 is characterized by
DE delayed motor and speech acquisition, variably impaired intellectual
DE development, behavioral abnormalities, and dysmorphic facial features.
DE Additional variable features include feeding difficulties, hypotonia,
DE and seizures.
DR MIM; 619320; phenotype.
DR MedGen; CN296787.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal dominant 7.
AC DI-03186
AR MRD7.
DE A disease characterized by primary microcephaly, severe intellectual
DE disability without speech, anxious autistic behavior, and dysmorphic
DE features, including bitemporal narrowing, deep-set eyes, large simple
DE ears, and a pointed nasal tip. Intellectual disability is
DE characterized by significantly below average general intellectual
DE functioning associated with impairments in adaptive behavior and
DE manifested during the developmental period.
DR MIM; 614104; phenotype.
DR MedGen; C3279839.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 1.
AC DI-00714
AR MRT1.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
DR MIM; 249500; phenotype.
DR MedGen; C1855304.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 12.
AC DI-03255
AR MRT12.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
DR MIM; 611090; phenotype.
DR MedGen; C1970200.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 13.
AC DI-02585
AR MRT13.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. Brain
DE magnetic resonance imaging of MRT13 patients indicates the presence of
DE mild cerebral white matter hypoplasia. Microcephaly is present in some
DE but not all affected individuals.
DR MIM; 613192; phenotype.
DR MedGen; C2750791.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 14.
AC DI-03192
AR MRT14.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
DR MIM; 614020; phenotype.
DR MedGen; C3151462.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy.
AC DI-03250
AR MRT18.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
SY Intellectual developmental disorder, autosomal recessive 18.
DR MIM; 614249; phenotype.
DR MedGen; C3280265.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 2.
AC DI-00715
AR MRT2.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRT2 patients
DE display mild intellectual disability with a standard IQ ranged from 50
DE to 70. IQ scores are lower in males than females. Developmental
DE milestones are mildly delayed. There are no dysmorphic or autistic
DE features.
SY MRT2A.
DR MIM; 607417; phenotype.
DR MedGen; C1843942.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 27.
AC DI-04059
AR MRT27.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
DR MIM; 614340; phenotype.
DR MedGen; C3280538.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 3.
AC DI-00716
AR MRT3.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
DR MIM; 608443; phenotype.
DR MedGen; C1838023.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly.
AC DI-03395
AR MRT34.
DE A disorder characterized by mild to moderate intellectual disability,
DE megalencephaly or enlarged head circumference, and a mild variant of
DE lissencephaly with anterior-predominant pachygyria with shallow and
DE unusually wide sulci and mildly thickened cortex. Some patients may
DE have seizures.
DR MIM; 614499; phenotype.
DR MedGen; C3281044.
DR MeSH; D008607.
KW KW-0451:Lissencephaly.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 37.
AC DI-03943
AR MRT37.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRT37
DE patients manifest delayed global development with speech delay,
DE hypotonia, spasticity, and a sleep disorder. Severe behavioral
DE abnormalities include aggression, hyperactivity, and grinding of the
DE teeth.
DR MIM; 615493; phenotype.
DR MedGen; C3809672.
DR MedGen; CN181196.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 38.
AC DI-03939
AR MRT38.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRT38 is
DE characterized by global developmental delay affecting motor, speech,
DE adaptive, and social development. Patients manifest autistic features,
DE aggression, self-injury, impulsivity, and distractibility.
DR MIM; 615516; phenotype.
DR MedGen; C3809753.
DR MedGen; CN181335.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 39.
AC DI-03963
AR MRT39.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRT39
DE affected individuals show delayed psychomotor development, severe
DE speech delay, short stature, kyphoscoliosis, and dysmorphic facial
DE features. Behavioral abnormalities include hyperactivity, aggression,
DE and stereotypic movements.
DR MIM; 615541; phenotype.
DR MedGen; C3809853.
DR MedGen; CN181764.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 41.
AC DI-04038
AR MRT41.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRT41 most
DE consistent features are global developmental delay, macrocephaly with
DE frontal bossing, high levels of anxiety, and some features suggestive
DE of a pervasive developmental disorder. Less common features include
DE fifth finger clinodactyly, recurrent pneumonia, and
DE hepatosplenomegaly.
DR MIM; 615637; phenotype.
DR MedGen; C3810225.
DR MedGen; CN184651.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 43.
AC DI-04069
AR MRT43.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
DR MIM; 615817; phenotype.
DR MedGen; CN188213.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 44.
AC DI-04192
AR MRT44.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRT44
DE manifestations include mild to severe cognitive impairment, delayed
DE psychomotor development, seizures in some patients, and dysmorphic
DE features.
DR MIM; 615942; phenotype.
DR MedGen; CN207815.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 45.
AC DI-04220
AR MRT45.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRT45
DE manifestations include mild to moderate intellectual disability and
DE dysmorphic features, including coarse facies, broad nasal bridge,
DE fleshy nares, and thick, prominent lips.
DR MIM; 615979; phenotype.
DR MedGen; CN219207.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 46.
AC DI-04283
AR MRT46.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRT46
DE manifestations include delayed psychomotor development apparent from
DE infancy or early childhood, delayed or absent expressive speech,
DE hypotonia, and therapy-responsive seizures in some patients.
DE Behavioral abnormalities are variable and include aggression, self-
DE injurious behavior, and sleep disturbances.
DR MIM; 616116; phenotype.
DR MedGen; CN221666.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 47.
AC DI-04311
AR MRT47.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRT47
DE patients show delayed development, with cognition and speech more
DE affected than motor skills.
DR MIM; 616193; phenotype.
DR MedGen; CN225186.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 48.
AC DI-04357
AR MRT48.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRT48
DE patients show moderate to severe intellectual disability and
DE additional features including progressive tremor, speech impairment,
DE and sometimes behavioral problems.
DR MIM; 616269; phenotype.
DR MedGen; CN228596.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 5.
AC DI-03476
AR MRT5.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
DR MIM; 611091; phenotype.
DR MedGen; C1970199.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 50.
AC DI-04481
AR MRT50.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRT50
DE patients show mild intellectual disability and microcephaly.
DR MIM; 616460; phenotype.
DR MedGen; CN231449.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 51.
AC DI-04633
AR MRT51.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
DR MIM; 616739; phenotype.
DR MedGen; CN234875.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 52.
AC DI-04697
AR MRT52.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRT52
DE clinical features include global developmental delay, severe
DE intellectual disability with poor speech, and mild seizures in early
DE childhood.
DR MIM; 616887; phenotype.
DR MedGen; CN235883.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 53.
AC DI-04693
AR MRT53.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. Most MRT53
DE patients manifest severely delayed psychomotor development, hypotonia,
DE and early-onset seizures. Additional features, such as cerebellar
DE hypoplasia and ataxia have been observed in some patients.
SY Glycosylphosphatidylinositol biosynthesis defect 13.
SY GPIBD13.
DR MIM; 616917; phenotype.
DR MedGen; CN236397.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 54.
AC DI-04760
AR MRT54.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRT54
DE patients manifest intellectual disability, delayed speech and
DE hyperactivity.
DR MIM; 617028; phenotype.
DR MedGen; CN237400.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 56.
AC DI-04823
AR MRT56.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
DR MIM; 617125; phenotype.
DR MedGen; CN238502.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 57.
AC DI-04875
AR MRT57.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRT57
DE patients have moderate to severe intellectual disability, and delayed
DE psychomotor development with poor or absent speech. Some patients
DE manifest seizures and autistic features.
DR MIM; 617188; phenotype.
DR MedGen; CN239056.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 58.
AC DI-04902
AR MRT58.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRT58
DE transmission pattern is consistent with autosomal recessive
DE inheritance.
DR MIM; 617270; phenotype.
DR MedGen; CN239931.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 59.
AC DI-04942
AR MRT59.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
DR MIM; 617323; phenotype.
DR MedGen; CN240390.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 6.
AC DI-01245
AR MRT6.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRT6 patients
DE display mild to severe intellectual disability and psychomotor
DE development delay in early childhood. Patients do not have neurologic
DE problems, congenital malformations, or facial dysmorphism. Body
DE height, weight, and head circumference are normal.
DR MIM; 611092; phenotype.
DR MedGen; C1970198.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 60.
AC DI-04989
AR MRT60.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRT60
DE patients display mild intellectual disability, delayed psychomotor
DE development, learning difficulties, and poor overall growth with
DE variable microcephaly.
DR MIM; 617432; phenotype.
DR MedGen; CN241846.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 61.
AC DI-05133
AR MRT61.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRT61
DE patients manifest delayed psychomotor development, moderate to severe
DE intellectual disability, and variable dysmorphic facial features.
DE Refractory seizures and brain abnormalities are present in severely
DE affected patients.
SY Alwadei syndrome.
DR MIM; 617773; phenotype.
DR MedGen; CN651335.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 63.
AC DI-05317
AR MRT63.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRT63
DE patients manifest global developmental delay, severe intellectual
DE disability, and seizures.
DR MIM; 618095; phenotype.
DR MedGen; CN253430.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 64.
AC DI-05318
AR MRT64.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRT64
DE patients have moderate to severe intellectual disability, delayed
DE motor development, aggressive behavior, and slurred or absent speech.
DR MIM; 618103; phenotype.
DR MedGen; CN253431.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 65.
AC DI-05327
AR MRT65.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRT65
DE patients have moderate to severe intellectual disability,
DE developmental delay, and facial dysmorphism. Camptodactyly is present
DE in some patients.
DR MIM; 618109; phenotype.
DR MedGen; CN253823.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 66.
AC DI-05434
AR MRT66.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRT66
DE patients have intellectual disability, delayed speech development,
DE neuropsychiatric symptoms, and relatively normal life span.
DR MIM; 618221; phenotype.
DR MedGen; CN257495.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 67.
AC DI-05459
AR MRT67.
DE A form of intellectual disability, a disorder characterized by
DE significantly below average general intellectual functioning
DE associated with impairments in adaptive behavior and manifested during
DE the developmental period. Some MRT67 patients manifest seizures and
DE sensorineural hearing loss.
DR MIM; 618295; phenotype.
DR MedGen; CN258146.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 68.
AC DI-05452
AR MRT68.
DE A form of intellectual disability, a disorder characterized by
DE significantly below average general intellectual functioning
DE associated with impairments in adaptive behavior and manifested during
DE the developmental period.
DR MIM; 618302; phenotype.
DR MedGen; CN258166.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 69.
AC DI-05523
AR MRT69.
DE A form of intellectual disability, a disorder characterized by
DE significantly below average general intellectual functioning
DE associated with impairments in adaptive behavior and manifested during
DE the developmental period.
DR MIM; 618383; phenotype.
DR MedGen; CN258276.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 7.
AC DI-00717
AR MRT7.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
SY MRT22.
DR MIM; 611093; phenotype.
DR MedGen; C1970197.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 70.
AC DI-05524
AR MRT70.
DE A form of intellectual disability, a disorder characterized by
DE significantly below average general intellectual functioning
DE associated with impairments in adaptive behavior and manifested during
DE the developmental period. MRT70 patients manifest impaired
DE intellectual development, mild facial dysmorphism, febrile seizures,
DE and behavioral abnormalities.
DR MIM; 618402; phenotype.
DR MedGen; CN258336.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 71.
AC DI-05617
AR MRT71.
DE A form of intellectual disability, a disorder characterized by
DE significantly below average general intellectual functioning
DE associated with impairments in adaptive behavior and manifested during
DE the developmental period. MRT71 features include impaired intellectual
DE development, global developmental delay, mildly delayed walking, poor
DE language, seizures in the first years of life, and behavioral
DE abnormalities.
DR MIM; 618504; phenotype.
DR MedGen; CN260726.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 72.
AC DI-05705
AR MRT72.
DE A form of intellectual disability, a disorder characterized by
DE significantly below average general intellectual functioning
DE associated with impairments in adaptive behavior and manifested during
DE the developmental period. MRT72 patients manifest moderate to severe
DE intellectual disability, microcephaly, and dysmorphic facial features.
DR MIM; 618665; phenotype.
DR MedGen; CN262875.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 73.
AC DI-06320
AR MRT73.
DE A form of intellectual disability, a disorder characterized by
DE significantly below average general intellectual functioning
DE associated with impairments in adaptive behavior and manifested during
DE the developmental period. MRT73 patients manifest global developmental
DE delay with hypotonia and mildly delayed walking, impaired intellectual
DE development with poor or absent speech, and mildly dysmorphic
DE features.
DR MIM; 619717; phenotype.
DR MedGen; CN306203.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, autosomal recessive 74.
AC DI-04855
AR MRT74.
DE A disorder characterized by intellectual impairment, macrocephaly, and
DE dysmorphic features. Epilepsy with eyelid myoclonus has also been
DE reported.
SY SOTOS3.
SY Sotos syndrome 3.
DR MIM; 617169; phenotype.
DR MedGen; CN238798.
DR MeSH; D058495.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, FRA12A type.
AC DI-06375
AR IDDFR12A.
DE An autosomal dominant disorder characterized by impaired intellectual
DE development with or without other anomalies, in association with a
DE folate-sensitive chromosomal fragile site at 12q13. Main features are
DE global developmental delay, significant learning disability, epileptic
DE seizures, and behavioral problems. The disorder can be inherited
DE without phenotypic effects.
SY Intellectual developmental disorder, autosomal dominant, FRA12A type.
DR MIM; 136630; phenotype.
DR MedGen; C1969893.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked 1.
AC DI-02789
AR XLID1.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. Intellectual
DE deficiency is the only primary symptom of non-syndromic X-linked
DE forms, while syndromic forms present with associated physical,
DE neurological and/or psychiatric manifestations.
SY MRX1.
SY MRX18.
SY MRX78.
DR MIM; 309530; phenotype.
DR MedGen; C2931498.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked 100.
AC DI-04156
AR XLID100.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. Intellectual
DE deficiency is the only primary symptom of non-syndromic X-linked
DE forms, while syndromic forms present with associated physical,
DE neurological and/or psychiatric manifestations. XLID100 clinical
DE features include intellectual disability, epilepsy, microcephaly and
DE cortical malformations.
SY MRX100.
DR MIM; 300923; phenotype.
DR MedGen; CN197010.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked 101.
AC DI-04186
AR XLID101.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. Intellectual
DE deficiency is the only primary symptom of non-syndromic X-linked
DE forms, while syndromic forms present with associated physical,
DE neurological and/or psychiatric manifestations. XLID101 clinical
DE features include global developmental delay, hyperactivity often with
DE aggressive outbursts, and seizures in some patients. Several affected
DE individuals have long face, prominent ears, and squint or strabismus.
SY MRX101.
DR MIM; 300928; phenotype.
DR MedGen; CN207618.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked 103.
AC DI-04814
AR XLID103.
DE A form of intellectual disability, a disorder characterized by
DE significantly below average general intellectual functioning
DE associated with impairments in adaptive behavior and manifested during
DE the developmental period. Intellectual deficiency is the only primary
DE symptom of non-syndromic X-linked forms, while syndromic forms present
DE with associated physical, neurological and/or psychiatric
DE manifestations.
SY MRX103.
DR MIM; 300982; phenotype.
DR MedGen; CN238512.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked 104.
AC DI-04815
AR XLID104.
DE A form of intellectual disability, a disorder characterized by
DE significantly below average general intellectual functioning
DE associated with impairments in adaptive behavior and manifested during
DE the developmental period. Intellectual deficiency is the only primary
DE symptom of non-syndromic X-linked forms, while syndromic forms present
DE with associated physical, neurological and/or psychiatric
DE manifestations.
SY MRX104.
DR MIM; 300983; phenotype.
DR MedGen; CN238519.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked 105.
AC DI-04816
AR XLID105.
DE A form of intellectual disability, a disorder characterized by
DE significantly below average general intellectual functioning
DE associated with impairments in adaptive behavior and manifested during
DE the developmental period. Intellectual deficiency is the only primary
DE symptom of non-syndromic X-linked forms, while syndromic forms present
DE with associated physical, neurological and/or psychiatric
DE manifestations.
SY MRX105.
DR MIM; 300984; phenotype.
DR MedGen; CN238520.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked 106.
AC DI-05009
AR XLID106.
DE A form of intellectual disability, a disorder characterized by
DE significantly below average general intellectual functioning
DE associated with impairments in adaptive behavior and manifested during
DE the developmental period. Intellectual deficiency is the only primary
DE symptom of non-syndromic X-linked forms, while syndromic forms present
DE with associated physical, neurological and/or psychiatric
DE manifestations.
SY MRX106.
DR MIM; 300997; phenotype.
DR MedGen; CN270121.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked 107.
AC DI-05198
AR XLID107.
DE A form of intellectual disability, a disorder characterized by
DE significantly below average general intellectual functioning
DE associated with impairments in adaptive behavior and manifested during
DE the developmental period. Intellectual deficiency is the only primary
DE symptom of non-syndromic X-linked forms, while syndromic forms present
DE with associated physical, neurological and/or psychiatric
DE manifestations.
SY MRX107.
DR MIM; 301013; phenotype.
DR MedGen; CN244560.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked 108.
AC DI-05522
AR MRX108.
DE A form of intellectual disability, a disorder characterized by
DE significantly below average general intellectual functioning
DE associated with impairments in adaptive behavior and manifested during
DE the developmental period. Intellectual deficiency is the only primary
DE symptom of non-syndromic X-linked forms, while syndromic forms present
DE with associated physical, neurological and/or psychiatric
DE manifestations.
DR MIM; 301024; phenotype.
DR MedGen; CN258272.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked 109.
AC DI-01629
AR XLID109.
DE A form of mild to moderate intellectual disability associated with
DE learning difficulties, communication deficits, attention problems,
DE hyperactivity, and autistic behavior. It is associated with a fragile
DE site on chromosome Xq28. Intellectual disability is characterized by
DE significantly below average general intellectual functioning
DE associated with impairments in adaptive behavior and manifested during
DE the developmental period.
SY MRX109.
DR MIM; 309548; phenotype.
DR MedGen; C0751157.
DR MedGen; C2752082.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked 12.
AC DI-04511
AR XLID12.
DE A form of intellectual disability, a disorder characterized by
DE significantly below average general intellectual functioning
DE associated with impairments in adaptive behavior and manifested during
DE the developmental period. Intellectual deficiency is the only primary
DE symptom of non-syndromic X-linked forms, while syndromic forms present
DE with associated physical, neurological and/or psychiatric
DE manifestations. XLID12 patients manifest variable degrees of
DE intellectual disability. Commonly observed features included speech
DE delay, elevated BMI, short stature, seizure disorders, gait
DE disturbance, and tremors.
SY MRX12.
SY MRX35.
DR MIM; 300957; phenotype.
DR MedGen; CN232398.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked 19.
AC DI-03127
AR XLID19.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
SY MRX19.
SY MRX31.
DR MIM; 300844; phenotype.
DR MedGen; C0796225.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked 21.
AC DI-00726
AR XLID21.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. Intellectual
DE deficiency is the only primary symptom of non-syndromic X-linked
DE forms, while syndromic intellectual disability presents with
DE associated physical, neurological and/or psychiatric manifestations.
SY MRX21.
SY MRX34.
DR MIM; 300143; phenotype.
DR MedGen; C0796227.
DR MedGen; C0796241.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked 29.
AC DI-00724
AR XLID29.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. Intellectual
DE deficiency is the only primary symptom of non-syndromic X-linked
DE forms, while syndromic intellectual disability presents with
DE associated physical, neurological and/or psychiatric manifestations.
SY MRX29.
SY MRX32.
SY MRX33.
SY MRX38.
SY MRX43.
SY MRX52.
SY MRX54.
SY MRX76.
SY MRX87.
DR MIM; 300419; phenotype.
DR MedGen; C0796244.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked 30.
AC DI-00727
AR XLID30.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. Intellectual
DE deficiency is the only primary symptom of non-syndromic X-linked
DE forms, while syndromic intellectual disability presents with
DE associated physical, neurological and/or psychiatric manifestations.
SY MRX30.
SY MRX47.
DR MIM; 300558; phenotype.
DR MedGen; C0796237.
DR MedGen; C0796249.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked 41.
AC DI-00728
AR XLID41.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. Intellectual
DE deficiency is the only primary symptom of non-syndromic X-linked
DE forms, while syndromic forms present with associated physical,
DE neurological and/or psychiatric manifestations.
SY MRX41.
SY MRX48.
DR MIM; 300849; phenotype.
DR MedGen; CN069590.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked 45.
AC DI-00730
AR MRX45.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
DR MIM; 300498; phenotype.
DR MedGen; C1845333.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked 46.
AC DI-00731
AR MRX46.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
DR MIM; 300436; phenotype.
DR MedGen; C1845526.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked 50.
AC DI-06017
AR XLID50.
DE A form of intellectual disability, a disorder characterized by
DE significantly below average general intellectual functioning
DE associated with impairments in adaptive behavior and manifested during
DE the developmental period. Intellectual deficiency is the only primary
DE symptom of non-syndromic X-linked forms, while syndromic forms present
DE with associated physical, neurological and/or psychiatric
DE manifestations.
SY MRX50.
DR MIM; 300115; phenotype.
DR MedGen; C1848087.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked 58.
AC DI-00733
AR XLID58.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. Intellectual
DE deficiency is the only primary symptom of non-syndromic X-linked
DE intellectual disability, while syndromic intellectual disability
DE presents with associated physical, neurological and/or psychiatric
DE manifestations.
SY MRX58.
DR MIM; 300210; phenotype.
DR MedGen; C1846174.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked 63.
AC DI-00734
AR XLID63.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. Intellectual
DE deficiency is the only primary symptom of non-syndromic X-linked
DE intellectual disability, while syndromic forms presents with
DE associated physical, neurological and/or psychiatric manifestations.
SY MRX63.
SY MRX68.
DR MIM; 300387; phenotype.
DR MedGen; C1845672.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked 72.
AC DI-02586
AR XLID72.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. Intellectual
DE deficiency is the only primary symptom of non-syndromic X-linked
DE forms, while syndromic forms present with associated physical,
DE neurological and/or psychiatric manifestations. XLID72 patients can
DE manifest autism spectrum disorder, seizures and macrocephaly as
DE additional features.
SY MRX72.
DR MIM; 300271; phenotype.
DR MedGen; C1846038.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
KW KW-1268:Autism spectrum disorder.
//
ID Intellectual developmental disorder, X-linked 88.
AC DI-03180
AR MRX88.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
DR MIM; 300852; phenotype.
DR MedGen; C3275444.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked 89.
AC DI-00735
AR MRX89.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
DR MIM; 300848; phenotype.
DR MedGen; C1839082.
DR MedGen; CN069343.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked 9.
AC DI-00729
AR XLID9.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. Intellectual
DE deficiency is the only primary symptom of non-syndromic X-linked
DE forms, while syndromic forms present with associated physical,
DE neurological and/or psychiatric manifestations.
SY MRX44.
SY MRX9.
DR MIM; 309549; phenotype.
DR MedGen; C0796215.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked 90.
AC DI-00736
AR XLID90.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. Intellectual
DE deficiency is the only primary symptom of non-syndromic X-linked
DE intellectual disability, while syndromic forms presents with
DE associated physical, neurological and/or psychiatric manifestations.
SY MRX90.
DR MIM; 300850; phenotype.
DR MedGen; C3275443.
DR MedGen; CN069586.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked 91.
AC DI-00737
AR MRX91.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
DR MIM; 300577; phenotype.
DR MedGen; C1845142.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked 92.
AC DI-00738
AR MRX92.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
DR MIM; 300851; phenotype.
DR MedGen; C1845144.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked 93.
AC DI-01967
AR XLID93.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. Intellectual
DE deficiency is the only primary symptom of non-syndromic X-linked
DE forms, while syndromic forms present with associated physical,
DE neurological and/or psychiatric manifestations. XLID93 is associated
DE with macrocephaly.
SY MRX93.
DR MIM; 300659; phenotype.
DR MedGen; C1970841.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked 95.
AC DI-00740
AR MRX95.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
DR MIM; 300716; phenotype.
DR MedGen; C2678034.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked 96.
AC DI-02522
AR XLID96.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
SY MRX96.
DR MIM; 300802; phenotype.
DR MedGen; C2749021.
DR MedGen; C3275408.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked 97.
AC DI-02523
AR XLID97.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period.
SY MRX65.
SY MRX97.
SY MRXZ.
DR MIM; 300803; phenotype.
DR MedGen; C2749020.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked 98.
AC DI-03949
AR XLID98.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. XLID98
DE patients show delayed psychomotor development, absent or poor speech
DE development, and postnatal growth retardation, often with
DE microcephaly. Some patients show autistic behavioral features, such as
DE stereotypic hand movements and repetitive behaviors. Additional, more
DE variable features include spasticity, axial hypotonia, seizures,
DE drooling, gastroesophageal reflux, and lack of sphincter control.
SY MRX98.
DR MIM; 300912; phenotype.
DR MedGen; C3806730.
DR MedGen; CN181444.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked 99.
AC DI-04101
AR XLID99.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. Intellectual
DE deficiency is the only primary symptom of non-syndromic X-linked
DE forms, while syndromic forms present with associated physical,
DE neurological and/or psychiatric manifestations.
SY MRX99.
DR MIM; 300919; phenotype.
DR MedGen; C3806746.
DR MedGen; CN186197.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked 99, syndromic, female-restricted.
AC DI-04666
AR MRXS99F.
DE A form of intellectual disability, a disorder characterized by
DE significantly below average general intellectual functioning,
DE associated with impairments in adaptive behavior and manifested during
DE the developmental period. MRXS99F affected females manifest
DE intellectual disability, developmental delay, facial dysmorphism,
DE short stature, and distinct congenital malformations comprising
DE choanal atresia, anal abnormalities, post-axial polydactyly, heart
DE defects, hypomastia, cleft palate/bifid uvula, progressive scoliosis,
DE and structural brain abnormalities. Inheritance is X-linked dominant.
DR MIM; 300968; phenotype.
DR MedGen; CN235381.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked, syndromic 11.
AC DI-04582
AR MRXS11.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRXS11
DE patients manifest moderate intellectual disability and craniofacial
DE dysmorphism.
SY Intellectual developmental disorder, syndromic 11, Shashi type.
SY SMRXS.
DR MIM; 300238; phenotype.
DR MedGen; C1846145.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked, syndromic 13.
AC DI-00722
AR MRXS13.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRXS13
DE patients manifest intellectual disability associated with other
DE variable features such as spasticity, episodes of manic depressive
DE psychosis, increased tone and macroorchidism.
SY MRX16.
SY MRX79.
SY MRXPPM.
SY PPMX.
DR MIM; 300055; phenotype.
DR MedGen; C0796222.
DR MedGen; C1848211.
DR MedGen; C1968550.
DR MedGen; C1968551.
DR MedGen; C1968552.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked, syndromic 14.
AC DI-02460
AR MRXS14.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRXS14
DE patients manifest intellectual disability associated with other
DE variable signs such as autistic features, slender build, poor
DE musculature, long, thin face, high-arched palate, high nasal bridge,
DE and pectus deformities.
DR MIM; 300676; phenotype.
DR MedGen; C1970822.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked, syndromic 28.
AC DI-00053
AR MRXS28.
DE An intellectual disability syndrome characterized by agenesis of the
DE corpus callosum, coloboma of the iris and optic nerve, severe
DE retrognathia, and intellectual deficit. Intellectual disability is
DE defined by significantly below average general intellectual
DE functioning associated with impairments in adaptive behavior and
DE manifested during the developmental period.
SY Agenesis of the corpus callosum with impaired intellectual development, ocular coloboma and micrognathia.
DR MIM; 300472; phenotype.
DR MedGen; C1845446.
DR MeSH; D038901.
DR MeSH; D061085.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked, syndromic 32.
AC DI-03627
AR MRXS32.
DE A syndrome characterized by profound intellectual deficit, delayed
DE psychomotor development beginning in infancy and little or no speech
DE development. Additional features include seizures, large joint
DE contractures, and abnormal positioning of the thumbs.
DR MIM; 300886; phenotype.
DR MedGen; C3550913.
DR MedGen; CN162963.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked, syndromic 33.
AC DI-04617
AR MRXS33.
DE A syndrome characterized by intellectual deficit, delayed psychomotor
DE development, delayed speech and language, and characteristic facial
DE features.
DR MIM; 300966; phenotype.
DR MedGen; CN234868.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked, syndromic 34.
AC DI-04618
AR MRXS34.
DE A syndrome characterized by intellectual deficit, delayed psychomotor
DE development, poor speech, and dysmorphic features.
SY MRXSML.
DR MIM; 300967; phenotype.
DR MedGen; CN235309.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked, syndromic 35.
AC DI-05030
AR MRXS35.
DE A syndrome characterized by intellectual deficit, delayed psychomotor
DE development, poor speech, and dysmorphic features.
DR MIM; 300998; phenotype.
DR MedGen; CN298079.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked, syndromic, Armfield type.
AC DI-05903
AR MRXSA.
DE An X-linked recessive disorder characterized by global developmental
DE delay with impaired intellectual development, walking difficulties and
DE poor or absent speech. Affected individuals display a distinctive
DE phenotype characterized by postnatal growth retardation, variable head
DE circumference with a prominent forehead and dysmorphic facial
DE features, ocular abnormalities, and seizures.
DR MIM; 300261; phenotype.
DR MedGen; C1846057.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked, syndromic, Bain type.
AC DI-04850
AR MRXSB.
DE A form of intellectual disability, a disorder characterized by
DE significantly below average general intellectual functioning
DE associated with impairments in adaptive behavior and manifested during
DE the developmental period. MRXSB patients manifest developmental delay,
DE intellectual disability, autism, hypotonia, seizures, and dysmorphic
DE facial features. Only females are affected.
DR MIM; 300986; phenotype.
DR MedGen; CN238685.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked, syndromic, Billuart type.
AC DI-00719
AR MRXSBL.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRXSBL
DE patients manifest intellectual disability associated with cerebellar
DE hypoplasia and distinctive facial dysmorphism.
SY MRX60.
DR MIM; 300486; phenotype.
DR MedGen; C1845366.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked, syndromic, Cabezas type.
AC DI-01309
AR MRXSC.
DE A syndromic form of X-linked intellectual disability characterized by
DE severe intellectual deficit associated with short stature,
DE craniofacial dysmorphism, small testes, muscle wasting in lower legs,
DE kyphosis, joint hyperextensibility, pes cavus, small feet, and
DE abnormalities of the toes. Additional neurologic manifestations
DE include speech delay and impairment, tremor, seizures, gait ataxia,
DE hyperactivity and decreased attention span.
SY Cabezas syndrome.
SY Intellectual deficit, X-linked, Cabezas type.
SY MRSS.
SY MRXHF2.
SY MRXS15.
DR MIM; 300354; phenotype.
DR MedGen; C1845861.
DR MeSH; D038901.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked, syndromic, Christianson type.
AC DI-01965
AR MRXSCH.
DE A syndrome characterized by profound intellectual disability,
DE epilepsy, ataxia, and microcephaly. It shows phenotypic overlap with
DE Angelman syndrome.
SY MRXS-Christianson.
SY X-linked Angelman-like syndrome.
DR MIM; 300243; phenotype.
DR MedGen; C2678194.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked, syndromic, Claes-Jensen type.
AC DI-00718
AR MRXSCJ.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRXSCJ
DE patients manifest intellectual disability associated with variable
DE features such as slowly progressive spastic paraplegia, seizures,
DE facial dysmorphism.
SY MRXSJ.
DR MIM; 300534; phenotype.
DR MedGen; C1845243.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type.
AC DI-05781
AR MRXSHD.
DE An X-linked recessive disorder characterized by impaired intellectual
DE development, global developmental delay, hypotonia, joint
DE contractures, behavioral abnormalities, Marfanoid habitus, scoliosis,
DE and mildly dysmorphic facies.
DR MIM; 301039; phenotype.
DR MedGen; CN263370.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked, syndromic, Hedera type.
AC DI-00741
AR MRXSH.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRXSH
DE patients manifest mild to moderate intellectual disability associated
DE with epilepsy, delays in motor milestones and speech acquisition in
DE infancy.
SY MRXE.
DR MIM; 300423; phenotype.
DR MedGen; C1845543.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked, syndromic, Houge type.
AC DI-05156
AR MRXSHG.
DE A disorder characterized by delayed development, intellectual
DE disability, speech and language delay, and early-onset seizures.
DE Carrier females may be mildly affected.
DR MIM; 301008; phenotype.
DR MedGen; CN679647.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked, syndromic, Lubs type.
AC DI-02752
AR MRXSL.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRXSL
DE patients manifest intellectual disability associated with variable
DE features. They include swallowing dysfunction and gastroesophageal
DE reflux with secondary recurrent respiratory infections, hypotonia,
DE mild myopathy and characteristic facies such as downslanting palpebral
DE fissures, hypertelorism and a short nose with a low nasal bridge.
SY MECP2 duplication syndrome.
DR MIM; 300260; phenotype.
DR MedGen; C1300260.
DR MedGen; C1846058.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked, syndromic, Lujan-Fryns type.
AC DI-01917
AR MRXSLF.
DE A disorder characterized by tall stature with asthenic habitus,
DE macrocephaly, a tall narrow face, maxillary hypoplasia, a high narrow
DE palate with dental crowding, a small or receding chin, long hands with
DE hyperextensible digits, hypernasal speech, hypotonia, mild-to-moderate
DE intellectual disability, behavioral aberrations and dysgenesis of the
DE corpus callosum.
SY Lujan-Fryns syndrome.
DR MIM; 309520; phenotype.
DR MedGen; C0796022.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked, syndromic, Nascimento-type.
AC DI-03285
AR MRXSN.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRXSN
DE features include dysmorphic facies, hirsutism, skin and nails
DE abnormalities, obesity, speech anomalies and seizures.
SY MRXS30.
DR MIM; 300860; phenotype.
DR MedGen; C3275464.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked, syndromic, Raymond type.
AC DI-02508
AR MRXSR.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. Some MRXSR
DE patients show additional features, including marfanoid habitus,
DE epilepsy, facial dysmorphism, hypotonia, and behavioral problems.
DR MIM; 300799; phenotype.
DR MedGen; C2749033.
DR MedGen; C3275406.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked, syndromic, Siderius type.
AC DI-01966
AR MRXSSD.
DE A syndrome characterized by mild to borderline intellectual disability
DE with or without cleft lip/cleft palate.
SY Siderius-Hamel syndrome.
DR MIM; 300263; phenotype.
DR MedGen; C1846055.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked, syndromic, Snijders Blok type.
AC DI-04512
AR MRXSSB.
DE A disorder characterized by mild to severe intellectual disability,
DE hypotonia, movement disorders, behavior problems, corpus callosum
DE hypoplasia, and epilepsy. Additionally, patients manifest variable
DE non-neurologic features such as joint hyperlaxity, skin pigmentary
DE abnormalities, cleft lip and/or palate, hearing and visual impairment,
DE and precocious puberty.
SY MRX102.
DR MIM; 300958; phenotype.
DR MedGen; CN232401.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked, syndromic, Snyder-Robinson type.
AC DI-02315
AR MRXSSR.
DE An X-linked intellectual disability syndrome characterized by a
DE collection of clinical features including facial asymmetry, marfanoid
DE habitus, hypertonia, osteoporosis and unsteady gait.
SY SRS.
DR MIM; 309583; phenotype.
DR MedGen; C0796160.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked, syndromic, Stocco dos Santos type.
AC DI-02342
AR SDSX.
DE A syndrome characterized by severe intellectual disability with
DE hyperactivity, aggressive behavior, delayed or no speech, and
DE seizures. Additional features include congenital bilateral hip
DE luxation, short stature, and kyphosis.
SY Intellectual deficit X-linked Stocco Dos Santos type.
DR MIM; 300434; phenotype.
DR MedGen; C1845530.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked, syndromic, Turner type.
AC DI-00720
AR MRXST.
DE An X-linked neurodevelopmental disorder with highly variable clinical
DE manifestations. Common features consist of moderate to profound
DE intellectual disability, delayed or absent speech, short stature with
DE small hands and feet, and non-specific but recurrent dysmorphic facial
DE features such as macrocephaly, microcephaly, a broad nasal tip, deep
DE set eyes, epicanthic folds, short palpebral fissures and a short
DE philtrum. Patients may manifest other features, such as hypotonia,
DE seizures and delayed bone age.
SY Brooks-Wisniewski-Brown syndrome.
SY JMS.
SY Juberg-Marsidi syndrome.
SY MRXSBWB.
DR MIM; 309590; phenotype.
DR MedGen; C2678046.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked, syndromic, Wilson-Turner type.
AC DI-03554
AR WTS.
DE A neurologic disorder characterized by severe intellectual disability,
DE dysmorphic facial features, hypogonadism, short stature, and truncal
DE obesity. Affected females have a milder phenotype than affected males.
SY MRXS6.
SY MRXSWT.
SY Wilson-Turner syndrome.
DR MIM; 309585; phenotype.
DR MedGen; C1839736.
DR MeSH; D038901.
KW KW-0550:Obesity.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies.
AC DI-06258
AR MRXSPF.
DE A disorder characterized by severe developmental delay with impaired
DE intellectual development and poor speech, coarse facial dysmorphisms,
DE and Blaschkoid pigmentary mosaicism. Additional clinical features may
DE include epilepsy, orthopedic abnormalities, hypotonia, and growth
DE abnormalities. The disorder affects both males and females.
DR MIM; 301066; phenotype.
DR MedGen; CN301092.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked, syndromic, Wu type.
AC DI-00739
AR MRXSW.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRXSW
DE patients have moderate intellectual disability, and additional
DE variable features such as macrocephaly, seizures, myoclonic jerks,
DE autistic behavior, asthenic body habitus, distal muscle weakness and
DE hyporeflexia.
SY MRX94.
SY MRXS29.
DR MIM; 300699; phenotype.
DR MedGen; C2678051.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual developmental disorder, X-linked, with isolated growth hormone deficiency.
AC DI-01968
AR MRXGH.
DE A disorder characterized by the association of variable degrees of
DE intellectual disability with panhypopituitarism, variable combinations
DE of hypothyroidism, delayed pubertal development, and short stature due
DE to growth hormone deficiency.
SY Intellectual developmental disorder, X-linked, with panhypopituitarism.
SY MRGH.
DR MIM; 300123; phenotype.
DR MedGen; C1848068.
DR MedGen; C2678223.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Intellectual disability and myopathy syndrome.
AC DI-06322
AR IDMYS.
DE An autosomal recessive disorder characterized by global developmental
DE delay, mildly impaired intellectual development, hypotonia, muscle
DE weakness and fatigue, and white matter abnormalities on brain imaging.
DE Variable additional features may include sensorineural hearing loss,
DE dysmorphic facies, and progressive heart disease.
DR MIM; 619719; phenotype.
DR MedGen; CN306199.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Intellectual disability with language impairment and autistic features.
AC DI-02984
AR MRLIAF.
DE A developmental disorder characterized by mild to moderate
DE intellectual disability, language impairment, and autistic features.
DE Patients show global delay, delayed walking, severely delayed speech
DE development, and behavioral abnormalities, including irritability,
DE hyperactivity, aggression, and stereotypical rigid behaviors.
DR MIM; 613670; phenotype.
DR MedGen; C3150923.
DR MeSH; D001321.
DR MeSH; D007806.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual disability, anterior maxillary protrusion, and strabismus.
AC DI-02951
AR MRAMS.
DE A syndrome characterized by severe intellectual disability, strabismus
DE and dysmorphic features such as anterior maxillary protrusion with
DE vertical maxillary excess, open bite and prominent crowded teeth. Some
DE patients may lack dysmorphic features and manifest temporal lobe
DE epilepsy and psychosis. Esotropia and amblyopia are present in some
DE individuals.
DR MIM; 613671; phenotype.
DR MedGen; C3150924.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma.
AC DI-03642
AR MEDNIK.
DE A disorder characterized by erythematous skin lesions and
DE hyperkeratosis, severe psychomotor retardation, peripheral neuropathy,
DE sensorineural hearing loss, together with elevated very-long-chain
DE fatty acids and severe congenital diarrhea.
SY EKV3.
SY Erythrokeratodermia variabilis 3.
SY Erythrokeratodermia variabilis Kamouraska type.
DR MIM; 609313; phenotype.
DR MedGen; C1836330.
DR MeSH; D007057.
DR MeSH; D008607.
DR MeSH; D020752.
DR MeSH; D056266.
KW KW-0209:Deafness.
KW KW-0622:Neuropathy.
KW KW-0977:Ichthyosis.
KW KW-0991:Intellectual disability.
//
ID Intellectual disability, truncal obesity, retinal dystrophy, and micropenis.
AC DI-02533
AR MORMS.
DE An autosomal recessive disorder characterized by moderate intellectual
DE disability, truncal obesity, congenital non-progressive retinal
DE dystrophy, and micropenis in males. The phenotype is similar to
DE Bardet-Biedl syndrome and Cohen syndrome Distinguishing features are
DE the age of onset, the non-progressive nature of the visual impairment,
DE lack of dysmorphic facies, skin or gingival infection, microcephaly,
DE mottled retina, polydactyly, and testicular anomalies.
SY MORM syndrome.
DR MIM; 610156; phenotype.
DR MedGen; C1857802.
DR MeSH; D008607.
DR MeSH; D009765.
DR MeSH; D010409.
DR MeSH; D058499.
KW KW-0550:Obesity.
KW KW-0991:Intellectual disability.
//
ID Intellectual disability-hypotonic facies syndrome, X-linked, 1.
AC DI-00723
AR MRXHF1.
DE A disorder characterized by significantly below average general
DE intellectual functioning associated with impairments in adaptive
DE behavior and manifested during the developmental period. MRXSHF1
DE features include severe intellectual disability, dysmorphic facies,
DE and a highly skewed X-inactivation pattern in carrier women. Other
DE more variable features include hypogonadism, deafness, renal
DE anomalies, and mild skeletal defects.
SY Carpenter-Waziri syndrome.
SY Chudley-Lowry syndrome.
SY CWS.
SY Holmes-Gang syndrome.
SY Intellectual disability X-linked with growth retardation deafness and microgenitalism.
SY JMS.
SY Juberg-Marsidi syndrome.
SY SFM1.
SY SFMS.
SY Smith-Fineman-Myers syndrome 1.
SY XLMR-hypotonic facies syndrome.
DR MIM; 309580; phenotype.
DR MedGen; C0796003.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Interleukin 1 receptor antagonist deficiency.
AC DI-02552
AR DIRA.
DE A rare autoinflammatory disease of skin and bone resulting in sterile
DE multifocal osteomyelitis, periostitis, and pustulosis from birth. The
DE term autoinflammatory disease describes a group of disorders
DE characterized by attacks of seemingly unprovoked inflammation without
DE significant levels of autoantibodies and autoreactive T-cells.
SY Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency.
DR MIM; 612852; phenotype.
DR MedGen; C2748507.
DR MeSH; D056660.
//
ID Interstitial lung and liver disease.
AC DI-03921
AR ILLD.
DE An autosomal recessive, life-threatening disorder characterized by
DE respiratory insufficiency and progressive liver disease with onset in
DE infancy or early childhood. Clinical features include failure to
DE thrive, hypotonia, intermittent lactic acidosis, aminoaciduria,
DE hypothyroidism, interstitial lung disease, pulmonary alveolar
DE proteinosis, anemia, and liver canalicular cholestasis, steatosis, and
DE iron deposition.
SY ILFS2.
SY Infantile liver failure syndrome 2.
SY Pulmonary alveolar proteinosis, Reunion island.
DR MIM; 615486; phenotype.
DR MedGen; C3809651.
DR MedGen; CN180563.
DR MeSH; D017093.
//
ID Interstitial lung disease 1.
AC DI-06268
AR ILD1.
DE A form of interstitial lung disease, a heterogeneous group of diseases
DE affecting the distal part of the lung and characterized by a
DE progressive remodeling of the alveolar interstitium. The disease
DE spectrum ranges from idiopathic interstitial pneumonia or pneumonitis
DE to idiopathic pulmonary fibrosis, that is associated with an increased
DE risk of developing lung cancer. Clinical features of interstitial lung
DE disease include dyspnea, clubbing of the fingers, and restrictive lung
DE capacity. ILD1 inheritance can be autosomal dominant with incomplete
DE penetrance, and autosomal recessive.
DR MIM; 619611; phenotype.
DR MedGen; CN304681.
DR MeSH; D054990.
//
ID Interstitial lung disease 2.
AC DI-02670
AR ILD2.
DE A form of interstitial lung disease, a heterogeneous group of diseases
DE affecting the distal part of the lung and characterized by a
DE progressive remodeling of the alveolar interstitium. The disease
DE spectrum ranges from idiopathic interstitial pneumonia or pneumonitis
DE to idiopathic pulmonary fibrosis, that is associated with an increased
DE risk of developing lung cancer. Clinical features of interstitial lung
DE disease include dyspnea, clubbing of the fingers, and restrictive lung
DE capacity. ILD2 inheritance is autosomal dominant.
SY Fibrocystic pulmonary dysplasia.
SY Fibrosing alveolitis cryptogenic.
SY Hamman-Rich disease.
SY Idiopathic pulmonary fibrosis familial.
SY Interstitial pneumonitis usual.
SY IPF.
SY Pulmonary fibrosis, idiopathic.
SY UIP.
DR MIM; 178500; phenotype.
DR MedGen; C0085786.
DR MedGen; C1960051.
DR MeSH; D054990.
//
ID Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital.
AC DI-03509
AR ILNEB.
DE A multiorgan disorder characterized by congenital nephrotic syndrome,
DE interstitial lung disease, and epidermolysis bullosa. The respiratory
DE and renal features predominate, and lung involvement accounts for the
DE lethal course of the disease.
DR MIM; 614748; phenotype.
DR MedGen; C3553636.
DR MedGen; CN130593.
DR MeSH; D004820.
DR MeSH; D009404.
DR MeSH; D017563.
KW KW-0263:Epidermolysis bullosa.
//
ID Interstitial nephritis, karyomegalic.
AC DI-03532
AR KMIN.
DE A rare kidney disease characterized by chronic tubulointerstitial
DE nephritis associated with massively enlarged tubular epithelial cell
DE nuclei. The clinical picture is associated with recurrent upper
DE respiratory tract infections in addition to chronic kidney disease
DE beginning in the third decade of life.
SY Karyomegalic tubulointerstitial nephritis.
SY KTN.
DR MIM; 614817; phenotype.
DR MedGen; C3553774.
DR MedGen; CN143720.
DR MeSH; D009395.
//
ID Intervertebral disc disease.
AC DI-01829
AR IDD.
DE A common musculo-skeletal disorder caused by degeneration of
DE intervertebral disks of the lumbar spine. It results in low-back pain
DE and unilateral leg pain.
SY Intervertebral disk disease.
SY LDD.
SY LDH.
SY Lumbar disc degeneration.
SY Lumbar disc disease.
SY Lumbar disc herniation.
DR MIM; 603932; phenotype.
DR MedGen; C0158252.
DR MedGen; C0221775.
DR MedGen; C2675551.
DR MedGen; C2676840.
DR MeSH; D007405.
DR MeSH; D055959.
//
ID Intestinal carcinoid tumor.
AC DI-02614
AR ICT.
DE A yellow, well-differentiated, circumscribed tumor that arises from
DE enterochromaffin cells in the small intestine or, less frequently, in
DE other parts of the gastrointestinal tract.
SY Argentaffinoma.
SY Carcinoid.
SY Gastrointestinal carcinoid tumor.
DR MIM; 114900; phenotype.
DR MedGen; C0349535.
DR MeSH; D002276.
//
ID Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked.
AC DI-02438
AR IPOX.
DE A disease characterized by a severe abnormality of gastrointestinal
DE motility due to primary qualitative defects of enteric ganglia and
DE nerve fibers. Affected individuals manifest recurrent signs of
DE intestinal obstruction in the absence of any mechanical lesion.
SY CIIP.
SY CIIPX.
SY CIIP X-linked.
SY Congenital idiopathic intestinal pseudoobstruction.
DR MIM; 300048; phenotype.
DR MedGen; C2746068.
DR MeSH; D007418.
//
ID Intracardiac myxoma.
AC DI-01830
AR INTMYX.
DE Inheritance is autosomal recessive.
DR MIM; 255960; phenotype.
DR MedGen; C1850635.
DR MedGen; C2931787.
//
ID Intracerebral hemorrhage.
AC DI-03406
AR ICH.
DE A pathological condition characterized by bleeding into one or both
DE cerebral hemispheres including the basal ganglia and the cerebral
DE cortex. It is often associated with hypertension and craniocerebral
DE trauma. Intracerebral bleeding is a common cause of stroke.
SY Hemorrhagic stroke.
DR MIM; 614519; phenotype.
DR MedGen; C0019191.
DR MedGen; C3281105.
DR MeSH; D002543.
//
ID Intractable childhood epilepsy with generalized tonic-clonic seizures.
AC DI-00599
AR ICEGTC.
DE A disorder characterized by generalized tonic-clonic seizures
DE beginning usually in infancy and induced by fever. Seizures are
DE associated with subsequent mental decline, as well as ataxia or
DE hypotonia. ICEGTC is similar to SMEI, except for the absence of
DE myoclonic seizures.
DR MIM; 607208; phenotype.
DR MedGen; C3501832.
DR MeSH; D004831.
KW KW-0887:Epilepsy.
//
ID Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies.
AC DI-03499
AR IMAGE.
DE A rare condition characterized by intrauterine growth restriction,
DE metaphyseal dysplasia, congenital adrenal hypoplasia, and genital
DE anomalies. Patients with this condition may present shortly after
DE birth with severe adrenal insufficiency, which can be life-threatening
DE if not recognized early and commenced on steroid replacement therapy.
DE Other reported features in this condition include, hypercalciuria
DE and/or hypercalcemia, craniosynostosis, cleft palate, and scoliosis.
SY IMAGE syndrome.
DR MIM; 614732; phenotype.
DR MedGen; C1846009.
DR MeSH; D000309.
DR MeSH; D001848.
DR MeSH; D005317.
//
ID Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency.
AC DI-05489
AR IMAGEI.
DE An autosomal recessive disorder characterized by intrauterine growth
DE retardation, postnatal growth failure, metaphyseal dysplasia, adrenal
DE hypoplasia congenita, growth hormone deficiency, genital anomalies,
DE and immunodeficiency resulting in increased infections.
DR MIM; 618336; phenotype.
DR MedGen; CN258213.
DR MeSH; D000309.
DR MeSH; D001848.
DR MeSH; D005317.
DR MeSH; D007153.
//
ID Iron-refractory iron deficiency anemia.
AC DI-01834
AR IRIDA.
DE Key features include congenital hypochromic microcytic anemia, very
DE low mean corpuscular erythrocyte volume, low transferrin saturation,
DE abnormal iron absorption characterized by no hematologic improvement
DE following treatment with oral iron, and abnormal iron utilization
DE characterized by a sluggish, incomplete response to parenteral iron.
SY Hereditary iron-handling disorder.
SY Hypochromic microcytic anemia with defect in iron metabolism.
SY Pseudo-iron-deficiency anemia.
DR MIM; 206200; phenotype.
DR MedGen; C0085576.
//
ID Ischemic stroke.
AC DI-01835
AR ISCHSTR.
DE A stroke is an acute neurologic event leading to death of neural
DE tissue of the brain and resulting in loss of motor, sensory and/or
DE cognitive function. Ischemic strokes, resulting from vascular
DE occlusion, is considered to be a highly complex disease consisting of
DE a group of heterogeneous disorders with multiple genetic and
DE environmental risk factors.
SY Cerebral infarction.
SY Cerebrovascular accident.
DR MIM; 601367; phenotype.
DR MedGen; C0038454.
DR MedGen; C0948008.
//
ID Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension.
AC DI-02312
AR ICPPS.
DE An autosomal dominant bone disease characterized by patellar aplasia
DE or hypoplasia and by anomalies of the pelvis and feet, including
DE disrupted ossification of the ischia and inferior pubic rami.
SY Coxopodopatellar syndrome.
SY Ischiopatellar dysplasia.
SY Patella aplasia, coxa vara, and tarsal synostosis.
SY Scott-Taor syndrome.
SY Small patella syndrome.
SY SPS.
DR MIM; 147891; phenotype.
DR MedGen; C1840061.
DR MeSH; D001848.
//
ID Isobutyryl-CoA dehydrogenase deficiency.
AC DI-01836
AR IBDD.
DE An autosomal recessive metabolic disorder characterized by plasma
DE carnitine deficiency and elevated C4-acylcarnitine. Patients manifest
DE variable clinical features including failure to thrive, seizures,
DE anemia, muscular hypotonia and developmental delay. Some patients may
DE be asymptomatic.
SY ACAD8 deficiency.
SY Deficiency of acyl-CoA dehydrogenase family member 8.
SY IBD deficiency.
DR MIM; 611283; phenotype.
DR MedGen; C1969809.
DR MeSH; D008661.
//
ID Isovaleric acidemia.
AC DI-01845
AR IVA.
DE A metabolic disorder characterized by retarded psychomotor
DE development, a peculiar odor resembling sweaty feet, an aversion to
DE dietary protein, and pernicious vomiting, leading to acidosis and
DE coma. The acute neonatal form leads to massive metabolic acidosis from
DE the first days of life and rapid death.
SY Isovaleric acid CoA dehydrogenase deficiency.
SY IVD deficiency.
DR MIM; 243500; phenotype.
DR MedGen; C0268575.
DR MedGen; CN068671.
DR MeSH; D000592.
//
ID IVIC syndrome.
AC DI-01846
AR IVIC.
DE An autosomal dominant condition characterized by upper limbs anomalies
DE (radial ray defects, carpal bones fusion), extraocular motor
DE disturbances, congenital bilateral non-progressive mixed hearing loss.
DE Other less consistent malformations include heart involvement, mild
DE thrombocytopenia and leukocytosis (before age 50), shoulder girdle
DE hypoplasia, imperforate anus, kidney malrotation or rectovaginal
DE fistula. The IVIC syndrome is an allelic disorder of Duane-radial ray
DE syndrome with a similar phenotype.
SY Oculootoradial syndrome.
SY Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia.
DR MIM; 147750; phenotype.
DR MedGen; C1327918.
DR MeSH; D000015.
KW KW-0209:Deafness.
//
ID Jaberi-Elahi syndrome.
AC DI-05251
AR JABELS.
DE An autosomal recessive disorder characterized by developmental delay
DE and intellectual disability. Additional variable features include
DE ataxic gait and abnormal movements, visual impairment, microcephaly,
DE abnormal foot or hand posturing, kyphoscoliosis, dysmorphic facial
DE features or seizures. Brain imaging typically shows cerebellar atrophy
DE and hypoplasia of the corpus callosum.
DR MIM; 617988; phenotype.
DR MedGen; CN244943.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Jackson-Weiss syndrome.
AC DI-00602
AR JWS.
DE An autosomal dominant craniosynostosis syndrome characterized by
DE craniofacial abnormalities and abnormality of the feet: broad great
DE toes with medial deviation and tarsal-metatarsal coalescence.
SY Craniosynostosis-midfacial hypoplasia-foot abnormalities.
DR MIM; 123150; phenotype.
DR MedGen; C0795998.
DR MeSH; D003398.
DR MeSH; D005532.
KW KW-0989:Craniosynostosis.
//
ID Jalili syndrome.
AC DI-00603
AR JALIS.
DE A syndrome characterized by the association of cone-rod dystrophy and
DE amelogenesis imperfecta.
SY Cone-rod dystrophy and amelogenesis imperfecta.
DR MIM; 217080; phenotype.
DR MedGen; C1857588.
DR MedGen; C3495589.
DR MeSH; D000567.
DR MeSH; D012164.
KW KW-0182:Cone-rod dystrophy.
KW KW-0986:Amelogenesis imperfecta.
//
ID Jansen-de Vries syndrome.
AC DI-04996
AR JDVS.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE mild to severe intellectual disability, psychomotor developmental
DE delay, speech delay, and behavioral manifestations including attention
DE deficit-hyperactivity disorder, autism and anxiety disorders. Most
DE patients have variable additional features, including feeding and
DE gastrointestinal difficulties, high pain threshold, hypersensitivity
DE to sound, hypotonia, broad-based gait, and dysmorphic features,
DE including mild facial abnormalities, strabismus, and small hands and
DE feet.
SY IDDGIP.
SY Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold.
DR MIM; 617450; phenotype.
DR MedGen; CN243957.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
KW KW-1268:Autism spectrum disorder.
//
ID Jawad syndrome.
AC DI-03354
AR JWDS.
DE A syndrome characterized by congenital microcephaly, moderately severe
DE intellectual disability, and symmetrical digital anomalies. Digital
DE malformations of variable degree include hallux valgus, syndactyly of
DE toes 4 and 5, short fifth fingers, single flexion crease of fifth
DE fingers, polydactyly and synpolydactyly.
SY Kelly syndrome.
DR MIM; 251255; phenotype.
DR MedGen; C2673414.
DR MeSH; D008831.
DR MeSH; D017880.
KW KW-0991:Intellectual disability.
//
ID Jervell and Lange-Nielsen syndrome 1.
AC DI-00604
AR JLNS1.
DE An autosomal recessive disorder characterized by congenital deafness,
DE prolongation of the QT interval, syncopal attacks due to ventricular
DE arrhythmias, and a high risk of sudden death.
SY Cardioauditory syndrome of Jervell and Lange-Nielsen.
SY Congenital deafness and functional heart disease.
SY Long QT interval-deafness.
SY Prolonged QT interval in EKG and sudden death.
SY Surdo-cardiac syndrome.
DR MIM; 220400; phenotype.
DR MedGen; C0022387.
DR MedGen; CN177652.
DR MeSH; D029593.
KW KW-0209:Deafness.
KW KW-0454:Long QT syndrome.
//
ID Jervell and Lange-Nielsen syndrome 2.
AC DI-00605
AR JLNS2.
DE An autosomal recessive disorder characterized by congenital deafness,
DE prolongation of the QT interval, syncopal attacks due to ventricular
DE arrhythmias, and a high risk of sudden death.
SY Cardioauditory syndrome of Jervell and Lange-Nielsen.
SY Congenital deafness and functional heart disease.
SY Long QT interval-deafness.
SY Prolonged QT interval in EKG and sudden death.
SY Surdo-cardiac syndrome.
DR MIM; 612347; phenotype.
DR MedGen; C2676723.
DR MeSH; D029593.
KW KW-0209:Deafness.
KW KW-0454:Long QT syndrome.
//
ID Johanson-Blizzard syndrome.
AC DI-01849
AR JBS.
DE This disorder includes congenital exocrine pancreatic insufficiency,
DE multiple malformations such as nasal wing aplasia, and intellectual
DE disability. Pancreas of individuals with JBS do not express UBR1 and
DE show intrauterine-onset destructive pancreatitis.
DR MIM; 243800; phenotype.
DR MedGen; C0175692.
//
ID Joint laxity, short stature, and myopia.
AC DI-05096
AR JLSM.
DE An autosomal recessive disease characterized by generalized joint
DE laxity, joint dislocation, pectus carinatum, short stature, and severe
DE myopia with retinal detachment.
DR MIM; 617662; phenotype.
DR MedGen; CN453922.
DR MeSH; D004392.
DR MeSH; D007592.
DR MeSH; D009216.
KW KW-0242:Dwarfism.
//
ID Joubert syndrome 1.
AC DI-02532
AR JBTS1.
DE A disorder presenting with cerebellar ataxia, oculomotor apraxia,
DE hypotonia, neonatal breathing abnormalities and psychomotor delay.
DE Neuroradiologically, it is characterized by cerebellar vermian
DE hypoplasia/aplasia, thickened and reoriented superior cerebellar
DE peduncles, and an abnormally large interpeduncular fossa, giving the
DE appearance of a molar tooth on transaxial slices (molar tooth sign).
DE Additional variable features include retinal dystrophy and renal
DE disease.
SY Cerebellooculorenal syndrome 1.
SY Cerebello-oculo-renal syndrome 1.
SY Cerebelloparenchymal disorder IV.
SY CORS1.
SY CPD4.
SY JBTS.
SY Joubert-Boltshauser syndrome.
SY joubert syndrome.
DR MIM; 213300; phenotype.
DR MedGen; C0431399.
DR MedGen; CN119531.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 10.
AC DI-02504
AR JBTS10.
DE A disorder presenting with cerebellar ataxia, oculomotor apraxia,
DE hypotonia, neonatal breathing abnormalities and psychomotor delay.
DE Neuroradiologically, it is characterized by cerebellar vermian
DE hypoplasia/aplasia, thickened and reoriented superior cerebellar
DE peduncles, and an abnormally large interpeduncular fossa, giving the
DE appearance of a molar tooth on transaxial slices (molar tooth sign).
DE Additional variable features include retinal dystrophy and renal
DE disease.
DR MIM; 300804; phenotype.
DR MedGen; C2749019.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 11.
AC DI-03108
AR JBTS11.
DE A disorder presenting with cerebellar ataxia, oculomotor apraxia,
DE hypotonia, neonatal breathing abnormalities and psychomotor delay.
DE Neuroradiologically, it is characterized by cerebellar vermian
DE hypoplasia/aplasia, thickened and reoriented superior cerebellar
DE peduncles, and an abnormally large interpeduncular fossa, giving the
DE appearance of a molar tooth on transaxial slices (molar tooth sign).
DE Additional variable features include retinal dystrophy and renal
DE disease.
DR MIM; 613820; phenotype.
DR MedGen; C3279203.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 12.
AC DI-03219
AR JBTS12.
DE A disorder presenting with cerebellar ataxia, oculomotor apraxia,
DE hypotonia, neonatal breathing abnormalities and psychomotor delay.
DE Neuroradiologically, it is characterized by cerebellar vermian
DE hypoplasia/aplasia, thickened and reoriented superior cerebellar
DE peduncles, and an abnormally large interpeduncular fossa, giving the
DE appearance of a molar tooth on transaxial slices (molar tooth sign).
DE Additional variable features include retinal dystrophy and renal
DE disease.
DR MIM; 200990; phenotype.
DR MedGen; C3277723.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 13.
AC DI-03232
AR JBTS13.
DE A disorder presenting with cerebellar ataxia, oculomotor apraxia,
DE hypotonia, neonatal breathing abnormalities and psychomotor delay.
DE Neuroradiologically, it is characterized by cerebellar vermian
DE hypoplasia/aplasia, thickened and reoriented superior cerebellar
DE peduncles, and an abnormally large interpeduncular fossa, giving the
DE appearance of a molar tooth on transaxial slices (molar tooth sign).
DE Additional variable features include retinal dystrophy and renal
DE disease.
DR MIM; 614173; phenotype.
DR MedGen; C3280031.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 14.
AC DI-03313
AR JBTS14.
DE An autosomal recessive disorder characterized by severe intellectual
DE disability, hypotonia, breathing abnormalities in infancy, and
DE dysmorphic facial features. Neuroradiologically, it is characterized
DE by cerebellar vermian hypoplasia/aplasia, thickened and reoriented
DE superior cerebellar peduncles, and an abnormally large interpeduncular
DE fossa, giving the appearance of a molar tooth on transaxial slices
DE (molar tooth sign). Additional variable features include renal
DE disease, abnormal eye movements, and postaxial polydactyly.
DR MIM; 614424; phenotype.
DR MedGen; C3280766.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 15.
AC DI-03314
AR JBTS15.
DE An autosomal recessive disorder presenting with cerebellar ataxia,
DE oculomotor apraxia, hypotonia, neonatal breathing abnormalities and
DE psychomotor delay. Neuroradiologically, it is characterized by
DE cerebellar vermian hypoplasia/aplasia, thickened and reoriented
DE superior cerebellar peduncles, and an abnormally large interpeduncular
DE fossa, giving the appearance of a molar tooth on transaxial slices
DE (molar tooth sign). Additional variable features include retinal
DE dystrophy, renal disease, liver fibrosis and polydactyly.
DR MIM; 614464; phenotype.
DR MedGen; C3280897.
DR MedGen; C3280898.
DR MedGen; C3280899.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 16.
AC DI-03315
AR JBTS16.
DE An autosomal recessive disorder characterized by oculomotor apraxia,
DE variable coloboma, and rare kidney involvement. Neuroradiologically,
DE it is characterized by an abnormally large interpeduncular fossa,
DE giving the appearance of a molar tooth on transaxial slices (molar
DE tooth sign). Additional variable features include retinal dystrophy
DE and polydactyly.
DR MIM; 614465; phenotype.
DR MedGen; C3280906.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 17.
AC DI-03439
AR JBTS17.
DE A disorder presenting with cerebellar ataxia, oculomotor apraxia,
DE hypotonia, neonatal breathing abnormalities and psychomotor delay.
DE Neuroradiologically, it is characterized by cerebellar vermian
DE hypoplasia/aplasia, thickened and reoriented superior cerebellar
DE peduncles, and an abnormally large interpeduncular fossa, giving the
DE appearance of a molar tooth on transaxial slices (molar tooth sign).
DE Additional variable features include retinal dystrophy and renal
DE disease.
DR MIM; 614615; phenotype.
DR MedGen; C3553264.
DR MedGen; CN124733.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 18.
AC DI-03515
AR JBTS18.
DE A form of Joubert syndrome, a disorder presenting with cerebellar
DE ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE abnormalities and psychomotor delay. Neuroradiologically, it is
DE characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE reoriented superior cerebellar peduncles, and an abnormally large
DE interpeduncular fossa, giving the appearance of a molar tooth on
DE transaxial slices (molar tooth sign). Additional variable features
DE include retinal dystrophy and renal disease. JBTS18 patients have
DE vermis agenesis and the molar tooth sign as well as severe
DE kyphoscoliosis. Other features include intrauterine growth
DE retardation, oral anomalies, micrognathism, polydactyly and
DE camptodactyly, joint laxity, horseshoe kidney, and ventricular septal
DE defect.
DR MIM; 614815; phenotype.
DR MedGen; C3553758.
DR MedGen; CN143714.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 19.
AC DI-03548
AR JBTS19.
DE A form of Joubert syndrome, a disorder presenting with cerebellar
DE ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE abnormalities and psychomotor delay. Neuroradiologically, it is
DE characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE reoriented superior cerebellar peduncles, and an abnormally large
DE interpeduncular fossa, giving the appearance of a molar tooth on
DE transaxial slices (molar tooth sign). JBTS19 patients have polycystic
DE kidney disease, Leber congenital amaurosis, cerebellar vermis
DE hypoplasia, and breathing abnormality.
DR MIM; 614844; phenotype.
DR MedGen; C3553846.
DR MedGen; CN158706.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 2.
AC DI-02621
AR JBTS2.
DE A disorder presenting with cerebellar ataxia, oculomotor apraxia,
DE hypotonia, neonatal breathing abnormalities and psychomotor delay.
DE Neuroradiologically, it is characterized by cerebellar vermian
DE hypoplasia/aplasia, thickened and reoriented superior cerebellar
DE peduncles, and an abnormally large interpeduncular fossa, giving the
DE appearance of a molar tooth on transaxial slices (molar tooth sign).
DE Additional variable features include retinal dystrophy and renal
DE disease.
SY Cerebellooculorenal syndrome 2.
SY Cerebello-oculo-renal syndrome 2.
SY CORS2.
DR MIM; 608091; phenotype.
DR MedGen; C1842577.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 20.
AC DI-03599
AR JBTS20.
DE A disorder presenting with cerebellar ataxia, oculomotor apraxia,
DE hypotonia, neonatal breathing abnormalities and psychomotor delay.
DE Neuroradiologically, it is characterized by cerebellar vermian
DE hypoplasia/aplasia, thickened and reoriented superior cerebellar
DE peduncles, and an abnormally large interpeduncular fossa, giving the
DE appearance of a molar tooth on transaxial slices (molar tooth sign).
DE Additional variable features include retinal dystrophy and renal
DE disease.
DR MIM; 614970; phenotype.
DR MedGen; C3554235.
DR MedGen; CN162975.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 21.
AC DI-04019
AR JBTS21.
DE A disorder presenting with cerebellar ataxia, oculomotor apraxia,
DE hypotonia, neonatal breathing abnormalities and psychomotor delay.
DE Neuroradiologically, it is characterized by cerebellar vermian
DE hypoplasia/aplasia, thickened and reoriented superior cerebellar
DE peduncles, and an abnormally large interpeduncular fossa, giving the
DE appearance of a molar tooth on transaxial slices (molar tooth sign).
DE Additional variable features include retinal dystrophy, renal disease,
DE liver fibrosis, and polydactyly.
DR MIM; 615636; phenotype.
DR MedGen; C3810212.
DR MedGen; CN184650.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 22.
AC DI-04020
AR JBTS22.
DE A disorder presenting with cerebellar ataxia, oculomotor apraxia,
DE hypotonia, neonatal breathing abnormalities and psychomotor delay.
DE Neuroradiologically, it is characterized by cerebellar vermian
DE hypoplasia/aplasia, thickened and reoriented superior cerebellar
DE peduncles, and an abnormally large interpeduncular fossa, giving the
DE appearance of a molar tooth on transaxial slices (molar tooth sign).
DE Additional variable features include retinal dystrophy, renal disease,
DE liver fibrosis, and polydactyly.
DR MIM; 615665; phenotype.
DR MedGen; C3810278.
DR MedGen; CN184729.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 23.
AC DI-04495
AR JBTS23.
DE A mild form of Joubert syndrome, a disorder presenting with cerebellar
DE ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE abnormalities and psychomotor delay. Neuroradiologically, it is
DE characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE reoriented superior cerebellar peduncles, and an abnormally large
DE interpeduncular fossa, giving the appearance of a molar tooth on
DE transaxial slices (molar tooth sign). Additional variable features
DE include retinal dystrophy, renal disease, liver fibrosis, and
DE polydactyly.
DR MIM; 616490; phenotype.
DR MedGen; CN231732.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 24.
AC DI-04579
AR JBTS24.
DE A form of Joubert syndrome, a disorder presenting with cerebellar
DE ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE abnormalities and psychomotor delay. Neuroradiologically, it is
DE characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE reoriented superior cerebellar peduncles, and an abnormally large
DE interpeduncular fossa, giving the appearance of a molar tooth on
DE transaxial slices (molar tooth sign). Additional variable features
DE include retinal dystrophy, renal disease, liver fibrosis, and
DE polydactyly.
DR MIM; 616654; phenotype.
DR MedGen; CN233319.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 25.
AC DI-04607
AR JBTS25.
DE A form of Joubert syndrome, a disorder presenting with cerebellar
DE ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE abnormalities and psychomotor delay. Neuroradiologically, it is
DE characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE reoriented superior cerebellar peduncles, and an abnormally large
DE interpeduncular fossa, giving the appearance of a molar tooth on
DE transaxial slices (molar tooth sign). Additional variable features
DE include retinal dystrophy, renal disease, liver fibrosis, and
DE polydactyly. JBTS25 clinical manifestations appear to be confined to
DE the neurologic system. JBTS25 inheritance is autosomal recessive.
DR MIM; 616781; phenotype.
DR MedGen; CN235076.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 26.
AC DI-04615
AR JBTS26.
DE A form of Joubert syndrome, a disorder presenting with cerebellar
DE ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE abnormalities and psychomotor delay. Neuroradiologically, it is
DE characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE reoriented superior cerebellar peduncles, and an abnormally large
DE interpeduncular fossa, giving the appearance of a molar tooth on
DE transaxial slices (molar tooth sign). Additional variable features
DE include retinal dystrophy, renal disease, liver fibrosis, and
DE polydactyly. JBTS26 inheritance is autosomal recessive.
DR MIM; 616784; phenotype.
DR MedGen; CN235096.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 27.
AC DI-04819
AR JBTS27.
DE A form of Joubert syndrome, a disorder presenting with cerebellar
DE ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE abnormalities and psychomotor delay. Neuroradiologically, it is
DE characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE reoriented superior cerebellar peduncles, and an abnormally large
DE interpeduncular fossa, giving the appearance of a molar tooth on
DE transaxial slices (molar tooth sign). Additional variable features
DE include retinal dystrophy, renal disease, liver fibrosis, and
DE polydactyly. JBTS27 inheritance is autosomal recessive.
DR MIM; 617120; phenotype.
DR MedGen; CN238517.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 28.
AC DI-04820
AR JBTS28.
DE A form of Joubert syndrome, a disorder presenting with cerebellar
DE ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE abnormalities and psychomotor delay. Neuroradiologically, it is
DE characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE reoriented superior cerebellar peduncles, and an abnormally large
DE interpeduncular fossa, giving the appearance of a molar tooth on
DE transaxial slices (molar tooth sign). Additional variable features
DE include retinal dystrophy, renal disease, liver fibrosis, and
DE polydactyly. JBTS28 inheritance is autosomal recessive.
DR MIM; 617121; phenotype.
DR MedGen; CN238518.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 29.
AC DI-05036
AR JBTS29.
DE A form of Joubert syndrome, a disorder presenting with cerebellar
DE ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE abnormalities and psychomotor delay. Neuroradiologically, it is
DE characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE reoriented superior cerebellar peduncles, and an abnormally large
DE interpeduncular fossa, giving the appearance of a molar tooth on
DE transaxial slices (molar tooth sign). Additional variable features
DE include retinal dystrophy, renal disease, liver fibrosis, and
DE polydactyly. JBTS29 inheritance is autosomal recessive.
DR MIM; 617562; phenotype.
DR MedGen; CN317537.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 3.
AC DI-00606
AR JBTS3.
DE A disorder presenting with cerebellar ataxia, oculomotor apraxia,
DE hypotonia, neonatal breathing abnormalities and psychomotor delay.
DE Neuroradiologically, it is characterized by cerebellar vermian
DE hypoplasia/aplasia, thickened and reoriented superior cerebellar
DE peduncles, and an abnormally large interpeduncular fossa, giving the
DE appearance of a molar tooth on transaxial slices (molar tooth sign).
DE Additional variable features include retinal dystrophy and renal
DE disease. Joubert syndrome type 3 shows minimal extra central nervous
DE system involvement and appears not to be associated with renal
DE dysfunction.
DR MIM; 608629; phenotype.
DR MedGen; C1837713.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 30.
AC DI-05051
AR JBTS30.
DE A form of Joubert syndrome, a disorder presenting with cerebellar
DE ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE abnormalities and psychomotor delay. Neuroradiologically, it is
DE characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE reoriented superior cerebellar peduncles, and an abnormally large
DE interpeduncular fossa, giving the appearance of a molar tooth on
DE transaxial slices (molar tooth sign). Additional variable features
DE include retinal dystrophy, renal disease, liver fibrosis, and
DE polydactyly. JBTS30 inheritance is autosomal recessive.
DR MIM; 617622; phenotype.
DR MedGen; CN399089.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 31.
AC DI-05136
AR JBTS31.
DE A form of Joubert syndrome, a disorder presenting with cerebellar
DE ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE abnormalities and psychomotor delay. Neuroradiologically, it is
DE characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE reoriented superior cerebellar peduncles, and an abnormally large
DE interpeduncular fossa, giving the appearance of a molar tooth on
DE transaxial slices (molar tooth sign). Additional variable features
DE include retinal dystrophy, renal disease, liver fibrosis, and
DE polydactyly. JBTS31 inheritance is autosomal recessive.
DR MIM; 617761; phenotype.
DR MedGen; CN593637.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 32.
AC DI-05134
AR JBTS32.
DE A form of Joubert syndrome, a disorder presenting with cerebellar
DE ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE abnormalities and psychomotor delay. Neuroradiologically, it is
DE characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE reoriented superior cerebellar peduncles, and an abnormally large
DE interpeduncular fossa, giving the appearance of a molar tooth on
DE transaxial slices (molar tooth sign). Additional variable features
DE include retinal dystrophy, renal disease, liver fibrosis, and
DE polydactyly. JBTS32 inheritance is autosomal recessive.
DR MIM; 617757; phenotype.
DR MedGen; CN596207.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 33.
AC DI-05135
AR JBTS33.
DE A form of Joubert syndrome, a disorder presenting with cerebellar
DE ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE abnormalities and psychomotor delay. Neuroradiologically, it is
DE characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE reoriented superior cerebellar peduncles, and an abnormally large
DE interpeduncular fossa, giving the appearance of a molar tooth on
DE transaxial slices (molar tooth sign). Additional variable features
DE include retinal dystrophy, renal disease, liver fibrosis, and
DE polydactyly. JBTS33 inheritance is autosomal recessive.
DR MIM; 617767; phenotype.
DR MedGen; CN601375.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 34.
AC DI-05148
AR JBTS34.
DE A form of Joubert syndrome, a disorder presenting with cerebellar
DE ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE abnormalities and psychomotor delay. Neuroradiologically, it is
DE characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE reoriented superior cerebellar peduncles, and an abnormally large
DE interpeduncular fossa, giving the appearance of a molar tooth on
DE transaxial slices (molar tooth sign). Additional variable features
DE include retinal dystrophy, renal disease, liver fibrosis, and
DE polydactyly. JBTS34 inheritance is autosomal recessive.
DR MIM; 614175; phenotype.
DR MedGen; CN620433.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 35.
AC DI-05361
AR JBTS35.
DE A form of Joubert syndrome, a disorder presenting with cerebellar
DE ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE abnormalities and psychomotor delay. Neuroradiologically, it is
DE characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE reoriented superior cerebellar peduncles, and an abnormally large
DE interpeduncular fossa, giving the appearance of a molar tooth on
DE transaxial slices (molar tooth sign). Additional variable features
DE include retinal dystrophy, renal disease, liver fibrosis, and
DE polydactyly. JBTS35 inheritance is autosomal recessive.
DR MIM; 618161; phenotype.
DR MedGen; CN257752.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 36.
AC DI-05752
AR JBTS36.
DE A form of Joubert syndrome, a disorder presenting with cerebellar
DE ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE abnormalities and psychomotor delay. Neuroradiologically, it is
DE characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE reoriented superior cerebellar peduncles, and an abnormally large
DE interpeduncular fossa, giving the appearance of a molar tooth on
DE transaxial slices (molar tooth sign). Additional variable features
DE include retinal dystrophy, renal disease, liver fibrosis, and
DE polydactyly. JBTS36 inheritance is autosomal recessive.
DR MIM; 618763; phenotype.
DR MedGen; CN263245.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 37.
AC DI-06049
AR JBTS37.
DE A form of Joubert syndrome, a disorder presenting with cerebellar
DE ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE abnormalities and psychomotor delay. Neuroradiologically, it is
DE characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE reoriented superior cerebellar peduncles, and an abnormally large
DE interpeduncular fossa, giving the appearance of a molar tooth on
DE transaxial slices (molar tooth sign). Additional variable features
DE include retinal dystrophy, renal disease, liver fibrosis, and
DE polydactyly. JBTS37 inheritance is autosomal recessive.
DR MIM; 619185; phenotype.
DR MedGen; CN295300.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 38.
AC DI-06194
AR JBTS38.
DE A form of Joubert syndrome, a disorder presenting with cerebellar
DE ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE abnormalities and psychomotor delay. Neuroradiologically, it is
DE characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE reoriented superior cerebellar peduncles, and an abnormally large
DE interpeduncular fossa, giving the appearance of a molar tooth on
DE transaxial slices (molar tooth sign). Additional variable features
DE include retinal dystrophy, renal disease, liver fibrosis, and
DE polydactyly. JBTS38 inheritance is autosomal recessive.
DR MIM; 619476; phenotype.
DR MedGen; CN301127.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 39.
AC DI-06239
AR JBTS39.
DE A form of Joubert syndrome, a disorder presenting with cerebellar
DE ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE abnormalities and psychomotor delay. Neuroradiologically, it is
DE characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE reoriented superior cerebellar peduncles, and an abnormally large
DE interpeduncular fossa, giving the appearance of a molar tooth on
DE transaxial slices (molar tooth sign). Additional variable features
DE include retinal dystrophy, renal disease, liver fibrosis, and
DE polydactyly. JBTS39 inheritance is autosomal recessive.
DR MIM; 619562; phenotype.
DR MedGen; CN300809.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 4.
AC DI-00607
AR JBTS4.
DE A disorder presenting with cerebellar ataxia, oculomotor apraxia,
DE hypotonia, neonatal breathing abnormalities and psychomotor delay.
DE Neuroradiologically, it is characterized by cerebellar vermian
DE hypoplasia/aplasia, thickened and reoriented superior cerebellar
DE peduncles, and an abnormally large interpeduncular fossa, giving the
DE appearance of a molar tooth on transaxial slices (molar tooth sign).
DE Additional variable features include retinal dystrophy and renal
DE disease. Joubert syndrome type 4 is a phenotypically mild form.
DR MIM; 609583; phenotype.
DR MedGen; C1846790.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 40.
AC DI-06240
AR JBTS40.
DE A form of Joubert syndrome, a disorder presenting with cerebellar
DE ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE abnormalities and psychomotor delay. Neuroradiologically, it is
DE characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE reoriented superior cerebellar peduncles, and an abnormally large
DE interpeduncular fossa, giving the appearance of a molar tooth on
DE transaxial slices (molar tooth sign). Additional variable features
DE include retinal dystrophy, renal disease, liver fibrosis, and
DE polydactyly. JBTS40 inheritance is autosomal recessive.
DR MIM; 619582; phenotype.
DR MedGen; CN301081.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 5.
AC DI-00608
AR JBTS5.
DE A disorder presenting with cerebellar ataxia, oculomotor apraxia,
DE hypotonia, neonatal breathing abnormalities and psychomotor delay.
DE Neuroradiologically, it is characterized by cerebellar vermian
DE hypoplasia/aplasia, thickened and reoriented superior cerebellar
DE peduncles, and an abnormally large interpeduncular fossa, giving the
DE appearance of a molar tooth on transaxial slices (molar tooth sign).
DE Additional variable features include retinal dystrophy and renal
DE disease. Joubert syndrome type 5 shares the neurologic and
DE neuroradiologic features of Joubert syndrome together with severe
DE retinal dystrophy and/or progressive renal failure characterized by
DE nephronophthisis.
DR MIM; 610188; phenotype.
DR MedGen; C1857780.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 6.
AC DI-00609
AR JBTS6.
DE A disorder presenting with cerebellar ataxia, oculomotor apraxia,
DE hypotonia, neonatal breathing abnormalities and psychomotor delay.
DE Neuroradiologically, it is characterized by cerebellar vermian
DE hypoplasia/aplasia, thickened and reoriented superior cerebellar
DE peduncles, and an abnormally large interpeduncular fossa, giving the
DE appearance of a molar tooth on transaxial slices (molar tooth sign).
DE Additional variable features include retinal dystrophy and renal
DE disease.
DR MIM; 610688; phenotype.
DR MedGen; C1853153.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 7.
AC DI-00610
AR JBTS7.
DE A disorder presenting with cerebellar ataxia, oculomotor apraxia,
DE hypotonia, neonatal breathing abnormalities and psychomotor delay.
DE Neuroradiologically, it is characterized by cerebellar vermian
DE hypoplasia/aplasia, thickened and reoriented superior cerebellar
DE peduncles, and an abnormally large interpeduncular fossa, giving the
DE appearance of a molar tooth on transaxial slices (molar tooth sign).
DE Additional variable features include retinal dystrophy and renal
DE disease.
SY Cerebello-oculo-renal syndrome 3.
SY CORS3.
DR MIM; 611560; phenotype.
DR MedGen; C1969053.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 8.
AC DI-00611
AR JBTS8.
DE A disorder presenting with cerebellar ataxia, oculomotor apraxia,
DE hypotonia, neonatal breathing abnormalities and psychomotor delay.
DE Neuroradiologically, it is characterized by cerebellar vermian
DE hypoplasia/aplasia, thickened and reoriented superior cerebellar
DE peduncles, and an abnormally large interpeduncular fossa, giving the
DE appearance of a molar tooth on transaxial slices (molar tooth sign).
DE Additional variable features include retinal dystrophy and renal
DE disease.
DR MIM; 612291; phenotype.
DR MedGen; C2676771.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Joubert syndrome 9.
AC DI-00612
AR JBTS9.
DE A disorder presenting with cerebellar ataxia, oculomotor apraxia,
DE hypotonia, neonatal breathing abnormalities and psychomotor delay.
DE Neuroradiologically, it is characterized by cerebellar vermian
DE hypoplasia/aplasia, thickened and reoriented superior cerebellar
DE peduncles, and an abnormally large interpeduncular fossa, giving the
DE appearance of a molar tooth on transaxial slices (molar tooth sign).
DE Additional variable features include retinal dystrophy and renal
DE disease.
DR MIM; 612285; phenotype.
DR MedGen; C2676788.
DR MeSH; D002526.
DR MeSH; D005124.
DR MeSH; D052177.
KW KW-0979:Joubert syndrome.
//
ID Juberg-Hayward syndrome.
AC DI-06066
AR JHS.
DE An autosomal recessive syndrome characterized by cleft lip/palate,
DE microcephaly, ptosis, hypoplasia or aplasia of thumbs, short stature,
DE dislocation of radial head, and fusion of humerus and radius leading
DE to elbow restriction.
SY Cleft Lip/Palate with abnormal thumbs and microcephaly.
SY Cleft lip/palate with radial head and digital anomalies.
SY Orocraniodigital syndrome.
DR MIM; 216100; phenotype.
DR MedGen; C0796099.
DR MeSH; D009958.
KW KW-0242:Dwarfism.
//
ID Juvenile absence epilepsy 1.
AC DI-00613
AR JAE1.
DE A subtype of idiopathic generalized epilepsy characterized by onset
DE occurring around puberty, absence seizures, generalized tonic-clonic
DE seizures (GTCS), GTCS on awakening, and myoclonic seizures.
SY EJA1.
SY Susceptibility to juvenile absence epilepsy 1.
DR MIM; 607631; phenotype.
DR MedGen; C0014553.
DR MedGen; C2750892.
DR MeSH; D004832.
KW KW-0887:Epilepsy.
//
ID Juvenile absence epilepsy 2.
AC DI-02591
AR JAE2.
DE A subtype of idiopathic generalized epilepsy characterized by onset
DE occurring around puberty, absence seizures, generalized tonic-clonic
DE seizures (GTCS), GTCS on awakening, and myoclonic seizures.
SY EJA2.
SY Susceptibility to juvenile absence epilepsy 2.
DR MIM; 607628; phenotype.
DR MedGen; C2750895.
DR MeSH; D004832.
KW KW-0887:Epilepsy.
//
ID Juvenile arthritis.
AC DI-05771
AR JUVAR.
DE A rare, familial form of juvenile arthritis characterized by autosomal
DE recessive inheritance and onset in early childhood of symmetric,
DE chronic joint inflammation. It causes joint swelling, pain, stiffness
DE and restricted joint movement. JUVAR has high clinical variability.
DE Some patients exhibit systemic symptoms, including quotidian fever,
DE erythematous rash, generalized lymphadenopathy, hepatomegaly, and/or
DE splenomegaly. Others display polyarthritis without systemic
DE inflammation.
DR MIM; 618795; phenotype.
DR MedGen; C3495559.
DR MeSH; D001171.
//
ID Juvenile myoclonic epilepsy 1.
AC DI-00615
AR EJM1.
DE A subtype of idiopathic generalized epilepsy. Patients have afebrile
DE seizures only, with onset in adolescence (rather than in childhood)
DE and myoclonic jerks which usually occur after awakening and are
DE triggered by sleep deprivation and fatigue.
SY Janz syndrome.
SY JME.
SY Petit mal impulsive.
SY Susceptibility to juvenile myoclonic epilepsy 1.
DR MIM; 254770; phenotype.
DR MedGen; C0270853.
DR MedGen; C1850778.
DR MeSH; D020190.
KW KW-0887:Epilepsy.
//
ID Juvenile myoclonic epilepsy 10.
AC DI-05223
AR EJM10.
DE A form of juvenile myoclonic epilepsy, a subtype of idiopathic
DE generalized epilepsy generally characterized by afebrile seizures with
DE onset in adolescence (rather than in childhood) and myoclonic jerks,
DE which usually occur after awakening and are triggered by sleep
DE deprivation and fatigue. EJM10 is an autosomal dominant seizure
DE disorder with variable manifestations, even within families. Affected
DE individuals have febrile, myoclonic, tonic-clonic, or absence
DE seizures, although several seizure types can occur in the same
DE individual. Some patients have onset of seizures in the first years of
DE life.
DR MIM; 617924; phenotype.
DR MedGen; CN244548.
DR MeSH; D020190.
KW KW-0887:Epilepsy.
//
ID Juvenile myoclonic epilepsy 5.
AC DI-03086
AR EJM5.
DE A subtype of idiopathic generalized epilepsy. Patients have afebrile
DE seizures only, with onset in adolescence (rather than in childhood)
DE and myoclonic jerks which usually occur after awakening and are
DE triggered by sleep deprivation and fatigue.
SY Susceptibility to juvenile myoclonic epilepsy 5.
DR MIM; 611136; phenotype.
DR MedGen; C2749942.
DR MeSH; D020190.
KW KW-0887:Epilepsy.
//
ID Juvenile myoclonic epilepsy 6.
AC DI-00614
AR EJM6.
DE A subtype of idiopathic generalized epilepsy. Patients have afebrile
DE seizures only, with onset in adolescence (rather than in childhood)
DE and myoclonic jerks which usually occur after awakening and are
DE triggered by sleep deprivation and fatigue.
SY Susceptibility to juvenile myoclonic epilepsy 6.
DR MIM; 607682; phenotype.
DR MedGen; CN043198.
DR MeSH; D020190.
KW KW-0887:Epilepsy.
//
ID Juvenile myoclonic epilepsy 7.
AC DI-02486
AR EJM7.
DE A subtype of idiopathic generalized epilepsy. Patients have afebrile
DE seizures only, with onset in adolescence (rather than in childhood)
DE and myoclonic jerks which usually occur after awakening and are
DE triggered by sleep deprivation and fatigue.
SY Susceptibility to juvenile myoclonic epilepsy 7.
DR MIM; 613060; phenotype.
DR MedGen; CN043549.
DR MeSH; D020190.
KW KW-0887:Epilepsy.
//
ID Juvenile myoclonic epilepsy 8.
AC DI-02592
AR EJM8.
DE A subtype of idiopathic generalized epilepsy. Patients have afebrile
DE seizures only, with onset in adolescence (rather than in childhood)
DE and myoclonic jerks which usually occur after awakening and are
DE triggered by sleep deprivation and fatigue.
SY Susceptibility to juvenile myoclonic epilepsy 8.
DR MIM; 607628; phenotype.
DR MedGen; CN043197.
DR MeSH; D020190.
KW KW-0887:Epilepsy.
//
ID Juvenile polyposis syndrome.
AC DI-01854
AR JPS.
DE Autosomal dominant gastrointestinal hamartomatous polyposis syndrome
DE in which patients are at risk for developing gastrointestinal cancers.
DE The lesions are typified by a smooth histological appearance,
DE predominant stroma, cystic spaces and lack of a smooth muscle core.
DE Multiple juvenile polyps usually occur in a number of Mendelian
DE disorders. Sometimes, these polyps occur without associated features
DE as in JPS; here, polyps tend to occur in the large bowel and are
DE associated with an increased risk of colon and other gastrointestinal
DE cancers.
SY JIP.
SY Juvenile intestinal polyposis.
DR MIM; 174900; phenotype.
DR MedGen; C0345893.
DR MedGen; C1832940.
DR MedGen; C1868081.
//
ID Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome.
AC DI-01855
AR JP/HHT.
DE JP/HHT syndrome phenotype consists of the coexistence of juvenile
DE polyposis (JIP) and hereditary hemorrhagic telangiectasia (HHT)
DE [MIM:187300] in a single individual. JIP and HHT are autosomal
DE dominant disorders with distinct and non-overlapping clinical
DE features. The former, an inherited gastrointestinal malignancy
DE predisposition, is caused by mutations in SMAD4 or BMPR1A, and the
DE latter is a vascular malformation disorder caused by mutations in ENG
DE or ACVRL1. All four genes encode proteins involved in the
DE transforming-growth-factor-signaling pathway. Although there are
DE reports of patients and families with phenotypes of both disorders
DE combined, the genetic etiology of this association is unknown.
DR MIM; 175050; phenotype.
DR MedGen; C1832942.
//
ID Juvenile primary lateral sclerosis.
AC DI-00616
AR JPLS.
DE A neurodegenerative disorder which is closely related to but
DE clinically distinct from amyotrophic lateral sclerosis. It is a
DE progressive paralytic disorder which results from dysfunction of the
DE upper motor neurons while the lower neurons are unaffected.
DR MIM; 606353; phenotype.
DR MedGen; C1853396.
DR MeSH; D016472.
KW KW-0523:Neurodegeneration.
//
ID Kabuki syndrome 1.
AC DI-02865
AR KABUK1.
DE An autosomal dominant, congenital syndrome characterized by
DE intellectual disability and additional features, including postnatal
DE dwarfism, a peculiar facies characterized by long palpebral fissures
DE with eversion of the lateral third of the lower eyelids, a broad and
DE depressed nasal tip, large prominent earlobes, a cleft or high-arched
DE palate, scoliosis, short fifth finger, persistence of fingerpads,
DE radiographic abnormalities of the vertebrae, hands, and hip joints,
DE and recurrent otitis media in infancy.
SY Kabuki make-up syndrome.
SY Kabuki syndrome.
SY KMS.
SY Niikawa-Kuroki syndrome.
DR MIM; 147920; phenotype.
DR MedGen; C0796004.
DR MeSH; D000015.
KW KW-0991:Intellectual disability.
//
ID Kabuki syndrome 2.
AC DI-03337
AR KABUK2.
DE A congenital intellectual disability syndrome with additional
DE features, including postnatal dwarfism, a peculiar facies
DE characterized by long palpebral fissures with eversion of the lateral
DE third of the lower eyelids, a broad and depressed nasal tip, large
DE prominent earlobes, a cleft or high-arched palate, scoliosis, short
DE fifth finger, persistence of fingerpads, radiographic abnormalities of
DE the vertebrae, hands, and hip joints, and recurrent otitis media in
DE infancy.
DR MIM; 300867; phenotype.
DR MedGen; C3275495.
DR MeSH; D000015.
KW KW-0991:Intellectual disability.
//
ID Kahrizi syndrome.
AC DI-03364
AR KHRZ.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE intellectual disability, cataracts, coloboma, kyphosis, and coarse
DE facial features.
DR MIM; 612713; phenotype.
DR MedGen; C2675185.
DR MeSH; D005128.
DR MeSH; D008607.
DR MeSH; D019066.
KW KW-0898:Cataract.
KW KW-0991:Intellectual disability.
//
ID Kanzaki disease.
AC DI-01857
AR KANZD.
DE Autosomal recessive disorder characterized by late-onset,
DE angiokeratoma corporis diffusum and mild intellectual impairment.
SY NAGA deficiency type II.
SY Schindler disease type II.
DR MIM; 609242; phenotype.
DR MedGen; C1836522.
//
ID Kartagener syndrome.
AC DI-00623
AR KTGS.
DE An autosomal recessive disorder characterized by the association of
DE primary ciliary dyskinesia with situs inversus. Clinical features
DE include recurrent respiratory infections, bronchiectasis, infertility,
DE and lateral transposition of the viscera of the thorax and abdomen.
DE The situs inversus is most often total, although it can be partial in
DE some cases (isolated dextrocardia or isolated transposition of
DE abdominal viscera).
SY Dextrocardia-bronchiectasis-sinusitis syndrome.
SY Immotile cilia syndrome Kartagener type.
SY Primary ciliary dyskinesia Kartagener type.
SY Siewert syndrome.
DR MIM; 244400; phenotype.
DR MedGen; C0022521.
DR MeSH; D007619.
KW KW-1012:Kartagener syndrome.
//
ID Kaufman oculocerebrofacial syndrome.
AC DI-04406
AR KOS.
DE A syndrome characterized by blepharophimosis, ptosis, mild upslanting
DE of the palpebral fissures, epicanthus, ectodermal anomalies,
DE developmental delay, and severe intellectual disability with absent
DE speech. Proportionate growth retardation with a small head
DE circumference/microcephaly, congenital malformations, muscular
DE hypotonia, anomalies on brain imaging with hypoplasia of the corpus
DE callosum, and low cholesterol levels are variably present.
SY Blepharophimosis-ptosis-intellectual disability syndrome.
SY BPIDS.
SY BPID syndrome.
DR MIM; 244450; phenotype.
DR MedGen; C1855663.
DR MedGen; C3808692.
DR MedGen; CN169377.
DR MeSH; D005124.
DR MeSH; D008607.
DR MeSH; D008831.
DR MeSH; D019066.
KW KW-0991:Intellectual disability.
//
ID Kawasaki disease.
AC DI-02892
AR KWD.
DE An acute, self-limited vasculitis of infants and children
DE characterized by prolonged fever unresponsive to antibiotics,
DE polymorphous skin rash, erythema of the oral mucosa, lips, and tongue,
DE erythema of the palms and soles, bilateral conjunctival injection, and
DE cervical lymphadenopathy.
SY Infantile polyarteritis.
SY Mucocutaneous lymph node syndrome.
DR MIM; 611775; phenotype.
DR MedGen; C0026691.
DR MedGen; C2936917.
DR MeSH; D009080.
//
ID Kaya-Barakat-Masson syndrome.
AC DI-05991
AR KABAMAS.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE impaired intellectual development, absent speech, hypotonia, profound
DE developmental and motor delay with dystonia, poor coordination and
DE spasticity, and visual deficits with brain MRI evidence of ventricle
DE enlargement, myelination alterations and cerebellar atrophy.
DR MIM; 619125; phenotype.
DR MedGen; CN293591.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID KBG syndrome.
AC DI-03268
AR KBGS.
DE A syndrome characterized by macrodontia of the upper central incisors,
DE distinctive craniofacial findings, short stature, skeletal anomalies,
DE and neurologic involvement that includes global developmental delay,
DE seizures, and intellectual disability.
DR MIM; 148050; phenotype.
DR MedGen; C0220687.
DR MeSH; D001848.
DR MeSH; D008607.
DR MeSH; D014071.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
//
ID Keipert syndrome.
AC DI-05580
AR KPTS.
DE An X-linked recessive syndrome characterized by craniofacial and
DE digital abnormalities. Clinical features include a prominent forehead,
DE a flat midface, hypertelorism, a broad nose, downturned corners of
DE mouth, and widening of all distal phalanges. Additional variable
DE features are cognitive impairment and sensorineural deafness.
SY Nasodigitoacoustic syndrome.
DR MIM; 301026; phenotype.
DR MedGen; C1850627.
DR MeSH; D000015.
KW KW-0209:Deafness.
KW KW-0991:Intellectual disability.
//
ID Kenny-Caffey syndrome 1.
AC DI-01859
AR KCS1.
DE An autosomal recessive form of Kenny-Caffey syndrome, a disorder
DE characterized by impaired skeletal development with small and dense
DE bones, short stature, and primary hypoparathyroidism with
DE hypocalcemia. Clinical features include cortical thickening and
DE medullary stenosis of the tubular bones, delayed closure of fontanels,
DE defective dentition, small eyes with hypermetropia, and frontal
DE bossing with a triangular face.
SY KCS.
SY Kenny-Caffey syndrome autosomal recessive.
DR MIM; 244460; phenotype.
DR MedGen; C1855648.
DR MeSH; D006958.
KW KW-0242:Dwarfism.
//
ID Kenny-Caffey syndrome 2.
AC DI-03711
AR KCS2.
DE A disorder characterized by impaired skeletal development with small
DE and dense bones, short stature, and primary hypoparathyroidism with
DE hypocalcemia. Clinical features include cortical thickening and
DE medullary stenosis of the tubular bones, delayed closure of fontanels,
DE defective dentition, small eyes with hypermetropia, and frontal
DE bossing with a triangular face.
SY Dwarfism with cortical thickening of tubular bones and transient hypocalcemia.
SY Kenny syndrome.
DR MIM; 127000; phenotype.
DR MedGen; C0265291.
DR MeSH; D006958.
KW KW-0242:Dwarfism.
//
ID Keppen-Lubinsky syndrome.
AC DI-04375
AR KPLBS.
DE A rare disease characterized by severe developmental delay,
DE intellectual disability, severe generalized lipodystrophy, dysmorphic
DE features including microcephaly, large prominent eyes, narrow nasal
DE bridge, tented upper lip, high palate, open mouth, tightly adherent
DE skin, and aged appearance.
DR MIM; 614098; phenotype.
DR MedGen; C3279800.
DR MeSH; D000015.
KW KW-0991:Intellectual disability.
KW KW-1022:Congenital generalized lipodystrophy.
//
ID Keratinocytic non-epidermolytic nevus.
AC DI-01860
AR KNEN.
DE Epidermal nevi of the common, non-organoid and non-epidermolytic type
DE are benign skin lesions and may vary in their extent from a single
DE (usually linear) lesion to widespread and systematized involvement.
DE They may be present at birth or develop early during childhood.
SY Pigmented moles.
DR MIM; 162900; phenotype.
DR MedGen; C0334082.
DR MedGen; C3665593.
//
ID Keratitis hereditary.
AC DI-01213
AR KERH.
DE An ocular disorder characterized by corneal opacification, recurrent
DE stromal keratitis and vascularization.
SY Autosomal dominant keratitis.
DR MIM; 148190; phenotype.
DR MedGen; C1835698.
DR MeSH; D007634.
//
ID Keratitis-ichthyosis-deafness syndrome, autosomal dominant.
AC DI-00624
AR KIDAD.
DE An autosomal dominant form of keratitis-ichthyosis-deafness syndrome,
DE a disease characterized by the association of hyperkeratotic skin
DE lesions with vascularizing keratitis and profound sensorineural
DE hearing loss. Clinical features include deafness, ichthyosis,
DE photophobia, absent or decreased eyebrows, sparse or absent scalp
DE hair, decreased sweating and dysplastic finger and toenails.
SY KID syndrome.
DR MIM; 148210; phenotype.
DR MedGen; C0265336.
DR MeSH; D003638.
DR MeSH; D007057.
DR MeSH; D007634.
KW KW-0209:Deafness.
KW KW-0977:Ichthyosis.
//
ID Keratitis-ichthyosis-deafness syndrome, autosomal recessive.
AC DI-05746
AR KIDAR.
DE An autosomal recessive form of keratitis-ichthyosis-deafness syndrome,
DE a disease characterized by the association of hyperkeratotic skin
DE lesions with vascularizing keratitis and profound sensorineural
DE hearing loss. KIDAR patients manifest ichthyosis, failure to thrive
DE and developmental delay in childhood, thrombocytopenia, photophobia,
DE and progressive hearing loss. Low plasma copper and ceruloplasmin
DE levels have been reported in some patients.
SY Desmons syndrome.
SY Ichthyosiform erythroderma, corneal involvement, and deafness.
SY KID syndrome, autosomal recessive.
DR MIM; 242150; phenotype.
DR MedGen; C1275089.
DR MeSH; D003638.
DR MeSH; D007057.
DR MeSH; D007634.
KW KW-0209:Deafness.
KW KW-0977:Ichthyosis.
//
ID Keratoconus 1.
AC DI-01861
AR KTCN1.
DE Frequent corneal dystrophy with an incidence that varies from 50 to
DE 230 per 100'000. The cornea assumes a conical shape as a result of a
DE progressive non-inflammatory thinning of the corneal stroma.
DE Keratoconus is most often an isolated sporadic condition with cases of
DE autosomal dominant and autosomal recessive transmission.
DR MIM; 148300; phenotype.
DR MedGen; C1835677.
//
ID Keratoconus 9.
AC DI-05225
AR KTCN9.
DE An autosomal dominant form of keratoconus, a common degenerative
DE corneal disease characterized by progressive, non-inflammatory
DE thinning of the corneal stroma, corneal ectasia, and cone-shaped
DE corneal protrusion that results in reduced vision.
DR MIM; 617928; phenotype.
DR MedGen; CN244547.
DR MeSH; D007640.
//
ID Keratoderma, palmoplantar, Bothnian type.
AC DI-03900
AR PPKB.
DE A dermatological disorder characterized by diffuse non-epidermolytic
DE hyperkeratosis of the skin of palms and soles. PPKB is frequently
DE complicated by fungal infections.
DR MIM; 600231; phenotype.
DR MedGen; C1838359.
DR MeSH; D053546.
KW KW-1007:Palmoplantar keratoderma.
//
ID Keratoderma, palmoplantar, epidermolytic.
AC DI-00893
AR EPPK.
DE A dermatological disorder characterized by diffuse thickening of the
DE epidermis on the entire surface of palms and soles sharply bordered
DE with erythematous margins. Some patients may present knuckle pads,
DE thick pads of skin appearing over the proximal phalangeal joints.
SY EHPPK.
SY Epidermolytic Unna-Thost disease.
SY Keratosis of Greither.
SY Keratosis palmaris et plantaris familiaris.
SY Localized epidermolytic hyperkeratosis.
SY Palmoplantar keratoderma Vorner type.
SY Tylosis.
DR MIM; 144200; phenotype.
DR MedGen; C1721006.
DR MedGen; C1840427.
DR MedGen; C2931735.
DR MedGen; C2936837.
DR MedGen; C3489771.
DR MedGen; C3489794.
DR MeSH; D053546.
KW KW-1007:Palmoplantar keratoderma.
//
ID Keratoderma, palmoplantar, Nagashima type.
AC DI-04005
AR PPKN.
DE An autosomal recessive, non-syndromic, diffuse palmoplantar keratosis
DE characterized by well-demarcated diffuse erythematous hyperkeratosis
DE expanding onto the dorsal surfaces of the palms and feet and the
DE Achilles tendon area. Hyperkeratosis is mild and non-progressive.
DR MIM; 615598; phenotype.
DR MedGen; C3810072.
DR MedGen; CN183094.
DR MeSH; D007645.
KW KW-1007:Palmoplantar keratoderma.
//
ID Keratoderma, palmoplantar, non-epidermolytic.
AC DI-00894
AR NEPPK.
DE A dermatological disorder characterized by well-demarcated
DE hyperkeratosis is present over the palms and soles. A red band is
DE frequently present at the periphery of the keratosis. It is usually
DE non-transgredient, with a sharp demarcation of the lesions at the
DE wrists.
SY Nonepidermolytic palmoplantar keratoderma.
SY Nonepidermolytic Unna-Thost disease.
SY Non-epidermolytic Unna-Thost disease.
SY Tylosis.
DR MIM; 600962; phenotype.
DR MedGen; C1833030.
DR MeSH; D007645.
KW KW-1007:Palmoplantar keratoderma.
//
ID Keratoderma, palmoplantar, non-epidermolytic, focal 1.
AC DI-02590
AR FNEPPK1.
DE A dermatological disorder characterized by non-epidermolytic
DE palmoplantar keratoderma limited to the pressure points on the balls
DE of the feet, with later mild involvement on the palms. Oral, genital
DE and follicular keratotic lesions are often present.
SY Focal nonepidermolytic palmoplantar keratoderma.
SY Keratoderma, focal nonepidermolytic palmoplantar.
SY PPKFNE.
DR MIM; 613000; phenotype.
DR MedGen; C2751804.
DR MeSH; D007645.
KW KW-1007:Palmoplantar keratoderma.
//
ID Keratoderma, palmoplantar, punctate 1A.
AC DI-03540
AR PPKP1A.
DE An autosomal dominant dermatological disorder characterized by
DE multiple hyperkeratotic, centrally indented, papules that develop in
DE early adolescence, or later, and are irregularly distributed on the
DE palms and soles (other palmoplantar keratoses have mostly diffuse
DE hyperkeratinization). In mechanically irritated areas, confluent
DE plaques can be found. Interfamilial and intrafamilial severity shows
DE broad variation. In some cases, PPKP1 is associated with the
DE development of early- and late-onset malignancies, including squamous
DE cell carcinoma.
SY Keratodermia palmoplantaris papulosa Buschke-Fischer-Brauer type.
SY Keratosis palmoplantaris papulosa.
SY Keratosis punctate palmoplantaris Buschke-Fisher-Brauer type.
SY KPPP1.
SY PPKP1.
SY Punctate palmoplantar keratoderma type I.
SY Punctate palmoplantar keratoderma type IA.
DR MIM; 148600; phenotype.
DR MedGen; C1835662.
DR MeSH; D007645.
KW KW-1007:Palmoplantar keratoderma.
//
ID Keratoderma, palmoplantar, striate 2.
AC DI-00896
AR SPPK2.
DE A dermatological disorder characterized by thickening of the skin on
DE the palms (linear pattern) and the soles (island-like pattern) and
DE flexor aspect of the fingers. Abnormalities of the nails, the teeth
DE and the hair are rarely present.
SY Keratoderma palmoplantar striate form II.
SY Keratosis palmoplantaris striata II.
SY KPPS2.
SY PPKS2.
SY Striate palmoplantar keratoderma II.
DR MIM; 612908; phenotype.
DR MedGen; C1852127.
DR MeSH; D007645.
KW KW-1007:Palmoplantar keratoderma.
//
ID Keratoderma, palmoplantar, striate 3.
AC DI-00897
AR SPPK3.
DE A dermatological disorder characterized by thickening of the stratum
DE corneum and epidermal layers on palms and soles. There is no
DE involvement of non-palmoplantar skin, and both hair and nails are
DE normal.
SY Keratosis palmoplantaris striata III.
SY PPKS3.
SY Striate palmoplantar keratoderma III.
DR MIM; 607654; phenotype.
DR MedGen; C1843302.
DR MedGen; C2931123.
DR MeSH; D007645.
KW KW-1007:Palmoplantar keratoderma.
//
ID Keratoderma, palmoplantar, with deafness.
AC DI-00898
AR PPKDFN.
DE An autosomal dominant disorder characterized by the association of
DE palmoplantar hyperkeratosis with progressive, bilateral, high-
DE frequency, sensorineural deafness.
DR MIM; 148350; phenotype.
DR MedGen; C1835672.
DR MeSH; D007645.
KW KW-0209:Deafness.
KW KW-1007:Palmoplantar keratoderma.
//
ID Keratoderma, palmoplantar, with squamous cell carcinoma of skin and sex reversal.
AC DI-00899
AR PKKSCC.
DE A recessive syndrome characterized by XX (female to male) SRY-
DE independent sex reversal, palmoplantar hyperkeratosis and
DE predisposition to squamous cell carcinoma of the skin.
SY Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal.
DR MIM; 610644; phenotype.
DR MedGen; C2674504.
DR MedGen; C3149931.
DR MeSH; D007645.
KW KW-1007:Palmoplantar keratoderma.
//
ID Keratoendothelitis fugax hereditaria.
AC DI-05200
AR KEFH.
DE An autosomal dominant corneal disease that periodically, and
DE fleetingly, affects the corneal endothelium, stroma, and vision,
DE eventually leading to central corneal stromal opacities in some
DE patients. The disease is characterized by unilateral attacks of ocular
DE pain, pericorneal injection, and photophobia. The acute symptoms
DE vanish in 1-2 days but vision remains blurry for several weeks. The
DE attacks start at the age of 3-12 years and can affect either eye. They
DE generally decrease in frequency and get milder with age.
SY Keratitis fugax hereditaria.
DR MIM; 148200; phenotype.
DR MedGen; C1835697.
DR MeSH; D007634.
//
ID Keratolytic winter erythema.
AC DI-05321
AR KWE.
DE An autosomal dominant genodermatosis characterized by recurrent
DE episodes of palmoplantar erythema and epidermal peeling presenting
DE seasonal variation. KWE manifests during childhood. Skin lesions may
DE spread to the dorsum of hands and feet and to the interdigital spaces.
DE Lower legs, knees and thighs may also be involved. A less common
DE finding is a slowly migratory, annular erythema that is seen mostly on
DE the extremities. Between flares, the skin can appear unremarkable.
DE Itching can occur, and hyperhidrosis, associated with a pungent odor,
DE is invariably present. Formation of vesicles is rare, whereas
DE keratolysis that causes the formation of dry blisters is regularly
DE seen. Cold weather, moisture, febrile diseases, and physical and
DE mental stress can trigger exacerbations. In severely affected
DE individuals, skin manifestations persist unremittingly. Penetrance of
DE the disease is high, but expressivity is variable, even within the
DE same family.
SY Erythrokeratolysis hiemalis.
SY Oudtshoorn skin disease.
DR MIM; 148370; phenotype.
DR MedGen; C0406756.
DR MeSH; D004890.
//
ID Keratosis follicularis spinulosa decalvans X-linked.
AC DI-01862
AR KFSDX.
DE A rare disorder affecting the skin and the eye. Affected men show
DE thickening of the skin of the neck, ears, and extremities, especially
DE the palms and soles, loss of eyebrows, eyelashes and beard, thickening
DE of the eyelids with blepharitis and ectropion, and corneal
DE degeneration.
SY Keratosis follicularis spinulosa decalvans cum ophiasi.
SY Siemens-1 syndrome.
DR MIM; 308800; phenotype.
DR MedGen; C0343057.
DR MeSH; D007642.
//
ID Keratosis linearis with ichthyosis congenita and sclerosing keratoderma.
AC DI-02805
AR KLICK.
DE A keratinizing disorder characterized by ichthyosis, palmoplantar
DE keratoderma with constricting bands around fingers, flexural
DE deformities of fingers and keratotic papules in a linear distribution
DE on the flexural side of large joints. Histological examination of the
DE skin of affected individuals shows hypertrophy and hyperplasia of the
DE spinous, granular and horny epidermal layer.
SY KLICK genodermatosis.
SY KLICK syndrome.
DR MIM; 601952; phenotype.
DR MedGen; C1866029.
DR MeSH; D007642.
KW KW-0977:Ichthyosis.
KW KW-1007:Palmoplantar keratoderma.
//
ID Keratosis pilaris atrophicans.
AC DI-04889
AR KPA.
DE A group of rare genodermatoses characterized by keratotic follicular
DE papules, variable degrees of inflammation, and secondary atrophic
DE scarring. Most cases are associated with an atopic diathesis and
DE keratosis pilaris on the extensor extremities. KPA is comprised of
DE three distinct clinical subtypes: keratosis pilaris atrophicans
DE faciei, atrophoderma vermiculatum, and keratosis follicularis
DE spinulosa decalvans. Affected individuals may present with features
DE overlapping the 3 subtypes.
DR MIM; 604093; phenotype.
DR MedGen; C0263383.
DR MeSH; D007642.
//
ID Keratosis, seborrheic.
AC DI-00625
AR KERSEB.
DE A common benign skin tumor. Seborrheic keratoses usually begin with
DE the appearance of one or more sharply defined, light brown, flat
DE macules. The lesions may be sparse or numerous. As they initially
DE grow, they develop a velvety to finely verrucous surface, followed by
DE an uneven warty surface with multiple plugged follicles and a dull or
DE lackluster appearance.
DR MIM; 182000; phenotype.
DR MedGen; C0022603.
DR MeSH; D017492.
//
ID Keutel syndrome.
AC DI-01864
AR KTLS.
DE An autosomal recessive disorder characterized by abnormal cartilage
DE calcification, peripheral pulmonary stenosis neural hearing loss and
DE midfacial hypoplasia.
DR MIM; 245150; phenotype.
DR MedGen; C1855607.
//
ID Khan-Khan-Katsanis syndrome.
AC DI-05588
AR 3KS.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE multiple congenital anomalies affecting the ocular, renal, skeletal,
DE and sometimes cardiac systems, defects in urogenital and limb
DE morphogenesis, poor overall growth, microcephaly, and global
DE developmental delay.
SY 3K syndrome.
DR MIM; 618460; phenotype.
DR MedGen; CN258822.
DR MeSH; D000015.
//
ID Kilquist syndrome.
AC DI-05956
AR KILQS.
DE An autosomal recessive, multisystem disorder characterized by severe
DE global developmental delay, sensorineural hearing loss, poor overall
DE growth, mild facial dysmorphism, gastrointestinal anomalies such as
DE gastroesophageal reflux or midgut malrotation, and a striking lack of
DE tear fluid, saliva, and sweat.
DR MIM; 619080; phenotype.
DR MedGen; CN293532.
DR MeSH; D000015.
DR MeSH; D006319.
DR MeSH; D008607.
KW KW-0209:Deafness.
KW KW-0991:Intellectual disability.
//
ID Kindler syndrome.
AC DI-01865
AR KNDLRS.
DE An autosomal recessive skin disorder characterized by skin blistering,
DE photosensitivity, progressive poikiloderma, and extensive skin
DE atrophy. Additional clinical features include gingival erosions,
DE ocular, esophageal, gastrointestinal and urogenital involvement, and
DE an increased risk of mucocutaneous malignancy.
SY Bullous acrokeratotic poikiloderma of Kindler and Weary.
SY Poikiloderma congenital with bullae Weary type.
SY Poikiloderma hereditary acrokeratotic.
DR MIM; 173650; phenotype.
DR MedGen; C0406556.
DR MedGen; C0406557.
DR MeSH; D012868.
//
ID King-Denborough syndrome.
AC DI-06230
AR KDS.
DE An autosomal dominant disorder characterized by the triad of
DE dysmorphic features, congenital myopathy, and susceptibility to
DE malignant hyperthermia. Variable expressivity has been reported in
DE several cases.
SY King syndrome.
DR MIM; 619542; phenotype.
DR MedGen; C1840365.
DR MeSH; D008305.
//
ID KINSSHIP syndrome.
AC DI-06095
AR KINS.
DE An autosomal dominant disease characterized by developmental delay,
DE impaired intellectual development, seizures, short stature, mesomelic
DE dysplasia, dysmorphic facial features, horseshoe or hypoplastic
DE kidney, and failure to thrive.
SY Mesomelic dysplasia, AFF3-related.
SY Mesomelic dysplasia, Steichen-Gersdorf type.
DR MIM; 619297; phenotype.
DR MedGen; CN296671.
DR MeSH; D004392.
DR MeSH; D008607.
DR MeSH; D014564.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
//
ID Kleefstra syndrome 1.
AC DI-01348
AR KLEFS1.
DE A form of Kleefstra syndrome, an autosomal dominant disease
DE characterized by variable intellectual disability, psychomotor
DE developmental delay, seizures, behavioral abnormalities, and facial
DE dysmorphisms. KLEFS1 patients additionally manifest
DE brachy(micro)cephaly, congenital heart defects, and urogenital
DE defects.
SY 9q- syndrome.
SY Chromosome 9q34.3 deletion syndrome.
SY Chromosome 9q subtelomeric deletion syndrome.
DR MIM; 610253; phenotype.
DR MedGen; C0795833.
DR MeSH; D006330.
DR MeSH; D008607.
DR MeSH; D019465.
KW KW-0991:Intellectual disability.
//
ID Kleefstra syndrome 2.
AC DI-05142
AR KLEFS2.
DE A form of Kleefstra syndrome, an autosomal dominant disease
DE characterized by variable intellectual disability, psychomotor
DE developmental delay, seizures, behavioral abnormalities, and facial
DE dysmorphisms.
DR MIM; 617768; phenotype.
DR MedGen; CN617858.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Klippel-Feil syndrome 1, autosomal dominant.
AC DI-02534
AR KFS1.
DE A skeletal disorder characterized by congenital fusion of cervical
DE vertebrae. It is due to a failure in the normal segmentation of
DE vertebrae during the early weeks of fetal development. The clinical
DE triad consists of short neck, low posterior hairline, and limited neck
DE movement. Deafness is a feature in some cases and may be of
DE sensorineural, conductive, or mixed type.
SY Cervical vertebral fusion autosomal dominant.
SY Cervical vertebral fusion congenital.
SY Congenital Klippel-Feil segment.
SY Fused cervical segments congenital.
SY Isolated Klippel-Feil syndrome.
SY Klippel-Feil malformation.
SY Klippel-Feil sequence.
DR MIM; 118100; phenotype.
DR MedGen; C1861689.
DR MeSH; D007714.
//
ID Klippel-Feil syndrome 2, autosomal recessive.
AC DI-03989
AR KFS2.
DE A skeletal disorder characterized by congenital fusion of cervical
DE vertebrae. It is due to a failure in the normal segmentation of
DE vertebrae during the early weeks of fetal development. The clinical
DE triad consists of short neck, low posterior hairline, and limited neck
DE movement.
SY Cervical vertebral fusion autosomal recessive.
SY KFS autosomal recessive.
DR MIM; 214300; phenotype.
DR MedGen; C1859209.
DR MeSH; D007714.
//
ID Klippel-Feil syndrome 3, autosomal dominant.
AC DI-02973
AR KFS3.
DE A skeletal disorder characterized by congenital fusion of cervical
DE vertebrae. It is due to a failure in the normal segmentation of
DE vertebrae during the early weeks of fetal development. The clinical
DE triad consists of short neck, low posterior hairline, and limited neck
DE movement.
DR MIM; 613702; phenotype.
DR MedGen; C3150967.
DR MeSH; D007714.
//
ID Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism.
AC DI-04523
AR KFS4.
DE A form of Klippel-Feil syndrome, a skeletal disorder characterized by
DE congenital fusion of cervical vertebrae. It is due to a failure in the
DE normal segmentation of vertebrae during the early weeks of fetal
DE development. The clinical triad consists of short neck, low posterior
DE hairline, and limited neck movement. KFS4 features additionally
DE include myopathy, mild short stature, microcephaly, and distinctive
DE facies.
DR MIM; 616549; phenotype.
DR MedGen; CN232561.
DR MeSH; D007714.
//
ID Klippel-Trenaunay syndrome.
AC DI-01866
AR KTS.
DE Congenital disease characterized by malformations of capillary (98% of
DE KTS patients), venous (72%) and lymphatic (11%) vessels, and bony and
DE soft tissue hypertrophy that leads to large cutaneous hemangiomata
DE with hypertrophy of the related bones and soft tissues.
DR MIM; 149000; phenotype.
DR MedGen; C0022739.
//
ID Kniest dysplasia.
AC DI-01867
AR KD.
DE Moderately severe chondrodysplasia phenotype that results from
DE mutations in the COL2A1 gene. Characteristics of the disorder include
DE a short trunk and extremities, mid-face hypoplasia, cleft palate,
DE myopia, retinal detachment, and hearing loss.
SY Kniest syndrome.
SY KS.
SY Metatropic dwarfism type II.
DR MIM; 156550; phenotype.
DR MedGen; C0265279.
//
ID Knobloch syndrome 1.
AC DI-01868
AR KNO1.
DE A developmental disorder primarily characterized by typical eye
DE abnormalities, including high myopia, cataracts, dislocated lens,
DE vitreoretinal degeneration, and retinal detachment, with occipital
DE skull defects, which can range from occipital encephalocele to occult
DE cutis aplasia.
SY KNO.
SY Retinal detachment and occipital encephalocele.
DR MIM; 267750; phenotype.
DR MedGen; C1849409.
DR MeSH; D004677.
DR MeSH; D012163.
//
ID Kohlschuetter-Toenz syndrome.
AC DI-03440
AR KTZS.
DE An autosomal recessive disorder characterized by severe global
DE developmental delay, early-onset intractable seizures, spasticity, and
DE amelogenesis imperfecta affecting both primary and secondary teeth and
DE causing yellow or brown discoloration of the teeth. Although the
DE phenotype is consistent, there is variability. Intellectual disability
DE is related to the severity of seizures, and the disorder can thus be
DE considered an epileptic encephalopathy. Some infants show normal
DE development until seizure onset, whereas others are delayed from
DE birth. The most severely affected individuals have profound
DE intellectual disability, never acquire speech, and become bedridden
DE early in life.
SY Kohlschutter-Tonz syndrome.
DR MIM; 226750; phenotype.
DR MedGen; C0406740.
DR MeSH; D000567.
DR MeSH; D003704.
DR MeSH; D004827.
KW KW-0887:Epilepsy.
KW KW-0986:Amelogenesis imperfecta.
//
ID Kohlschutter-Tonz syndrome-like.
AC DI-06058
AR KTZSL.
DE A disorder characterized by global developmental delay, moderately to
DE severely impaired intellectual development, poor or absent speech,
DE delayed motor skills, and early-onset epilepsy in many patients. Most
DE affected individuals have feeding difficulties, poor overall growth,
DE dysmorphic facial features, and significant dental anomalies
DE resembling amelogenesis imperfecta. More variable features include
DE visual defects, behavioral abnormalities, and non-specific involvement
DE of other organ systems. KTZSL transmission pattern is consistent with
DE autosomal dominant inheritance with incomplete penetrance and variable
DE expressivity.
DR MIM; 619229; phenotype.
DR MedGen; CN295864.
DR MeSH; D014071.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Koolen-De Vries syndrome.
AC DI-05560
AR KDVS.
DE An autosomal dominant, multisystem disorder characterized by
DE hypotonia, developmental delay, moderate to severe intellectual
DE disability, and distinctive dysmorphic features including tall, broad
DE forehead, long face, upslanting palpebral fissures, epicanthal folds,
DE tubular nose with bulbous nasal tip, and large ears. Expressive
DE language development is particularly impaired compared with receptive
DE language or motor skills. Additional features include social and
DE friendly behavior, epilepsy, musculoskeletal anomalies, congenital
DE heart defects, urogenital malformations, and ectodermal anomalies.
SY Chromosome 17q21.31 deletion syndrome.
SY Microdeletion 17q21.31 syndrome.
DR MIM; 610443; phenotype.
DR MedGen; C1864871.
DR MeSH; D000015.
KW KW-0991:Intellectual disability.
//
ID Kosaki overgrowth syndrome.
AC DI-04560
AR KOGS.
DE A syndrome characterized by somatic overgrowth, distinctive facial
DE features, hyperelastic and fragile skin, and progressive neurologic
DE deterioration with white matter lesions on brain imaging.
SY Skeletal overgrowth with facial dysmorphism, hyperelastic skin, white matter lesions, and neurologic deterioration.
DR MIM; 616592; phenotype.
DR MedGen; CN233141.
DR MeSH; D006130.
//
ID Kowarski syndrome.
AC DI-01869
AR KWKS.
DE A syndrome clinically characterized by short stature associated with
DE bioinactive growth hormone, normal or slightly increased growth
DE hormone secretion, pathologically low insulin-like growth factor 1
DE levels, and normal catch-up growth on growth hormone replacement
DE therapy.
SY Biodefective growth hormone.
SY Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin.
DR MIM; 262650; phenotype.
DR MedGen; C1849779.
DR MeSH; D004393.
KW KW-0242:Dwarfism.
//
ID Krabbe disease, atypical, due to saposin A deficiency.
AC DI-01197
AR AKRD.
DE A disorder of galactosylceramide metabolism. Clinical features include
DE neurologic regression around age 3 months, loss of spontaneous
DE movements, hyporeflexia, generalized brain atrophy, and diffuse white
DE matter dysmyelination.
SY Saposin A deficiency.
DR MIM; 611722; phenotype.
DR MedGen; C2673266.
DR MeSH; D007965.
//
ID Kufor-Rakeb syndrome.
AC DI-01870
AR KRS.
DE A rare form of autosomal recessive juvenile or early-onset, levodopa-
DE responsive parkinsonism. In addition to typical parkinsonian signs,
DE clinical manifestations of Kufor-Rakeb syndrome include behavioral
DE problems, facial tremor, pyramidal tract dysfunction, supranuclear
DE gaze palsy, and dementia.
SY KRPPD.
SY Pallidopyramidal degeneration with supranuclear upgaze paresis and dementia.
SY PARK9.
SY Parkinson disease 9.
SY Parkinson disease autosomal recessive 9.
DR MIM; 606693; phenotype.
DR MedGen; C1847640.
DR MeSH; D020734.
KW KW-0908:Parkinsonism.
//
ID Kuru.
AC DI-01871
AR KURU.
DE Kuru is transmitted during ritualistic cannibalism, among natives of
DE the New Guinea highlands. Patients exhibit various movement disorders
DE like cerebellar abnormalities, rigidity of the limbs, and clonus.
DE Emotional lability is present, and dementia is conspicuously absent.
DE Death usually occurs from 3 to 12 month after onset.
DR MIM; 245300; phenotype.
DR MedGen; C1855588.
//
ID Kury-Isidor syndrome.
AC DI-06353
AR KURIS.
DE An autosomal dominant neurodevelopmental disorder characterized mainly
DE by mild global developmental delay apparent from infancy or early
DE childhood, and behavioral problems, including autism in most patients.
DE Intellectual development may be mildly delayed, borderline, or even
DE normal. Additional variable systemic features may include poor overall
DE growth, hypotonia, distal skeletal anomalies, seizures, and non-
DE specific dysmorphic facial features.
DR MIM; 619762; phenotype.
DR MedGen; CN306819.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID L-2-hydroxyglutaric aciduria.
AC DI-00626
AR L2HGA.
DE A rare autosomal recessive disorder clinically characterized by mild
DE psychomotor delay in the first years of life, followed by progressive
DE cerebellar ataxia, dysarthria and moderate to severe intellectual
DE disability. Diagnosis is based on the presence of an excess of L-2-
DE hydroxyglutaric acid in urine, blood and cerebrospinal fluid.
SY L-2-hydroxyglutaric acidemia.
DR MIM; 236792; phenotype.
DR MedGen; C1855995.
DR MeSH; D008661.
//
ID L-ferritin deficiency.
AC DI-04015
AR LFTD.
DE A condition characterized by low levels of ferritin in serum and
DE tissues in the absence of other hematological symptoms. Seizures and
DE mild neuropsychologic impairment may manifest in individuals with
DE complete ferritin deficiency.
SY L-ferritin deficiency dominant and recessive.
DR MIM; 615604; phenotype.
DR MedGen; C3810090.
DR MedGen; CN183734.
DR MeSH; D019189.
//
ID Lacrimal duct defect.
AC DI-04319
AR LCDD.
DE A condition resulting in the imbalance between tear production and
DE tear drainage. Infants typically manifest persistent epiphora and/or
DE recurrent infections of the lacrimal pathway, such as conjunctivitis.
DE LCDD is caused by failure of the nasolacrimal duct to open into the
DE inferior meatus.
SY Lacrimal duct obstruction.
SY Nasolacrimal duct obstruction.
DR MIM; 149700; phenotype.
DR MedGen; C1835612.
DR MeSH; D007767.
//
ID Lacrimo-auriculo-dento-digital syndrome.
AC DI-00627
AR LADDS.
DE An autosomal dominant ectodermal dysplasia, a heterogeneous group of
DE disorders due to abnormal development of two or more ectodermal
DE structures. Lacrimo-auriculo-dento-digital syndrome is characterized
DE by aplastic/hypoplastic lacrimal and salivary glands and ducts, cup-
DE shaped ears, hearing loss, hypodontia and enamel hypoplasia, and
DE distal limb segments anomalies. In addition to these cardinal
DE features, facial dysmorphism, malformations of the kidney and
DE respiratory system and abnormal genitalia have been reported.
DE Craniosynostosis and severe syndactyly are not observed.
SY Lacrimoauriculodentodigital syndrome.
SY LADD syndrome.
SY Levy-Hollister syndrome.
DR MIM; 149730; phenotype.
DR MedGen; C0265269.
DR MeSH; D007766.
DR MeSH; D014071.
DR MeSH; D017880.
DR MeSH; D034381.
KW KW-0038:Ectodermal dysplasia.
KW KW-0953:Lacrimo-auriculo-dento-digital syndrome.
//
ID Lactate dehydrogenase B deficiency.
AC DI-04441
AR LDHBD.
DE A condition with no deleterious effects on health. LDHBD is of
DE interest to laboratory medicine mainly because it can cause
DE misdiagnosis in those disorders in which elevation of serum LDH is
DE expected.
DR MIM; 614128; phenotype.
DR MedGen; C1835592.
DR MedGen; C3279904.
//
ID Lamb-Shaffer syndrome.
AC DI-04646
AR LAMSHF.
DE An autosomal dominant, neurodevelopmental disorder characterized by
DE global developmental delay, intellectual disability, language and
DE motor impairment, and distinct facial features. Additional variable
DE skeletal abnormalities may also be present.
DR MIM; 616803; phenotype.
DR MedGen; CN235184.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Langer mesomelic dysplasia.
AC DI-01876
AR LMD.
DE Autosomal recessive rare skeletal dysplasia characterized by severe
DE short stature owing to shortening and maldevelopment of the mesomelic
DE and rhizomelic segments of the limbs. Associated malformations are
DE rarely reported and intellect is normal in all affected subjects
DE reported to date.
DR MIM; 249700; phenotype.
DR MedGen; C0432230.
//
ID Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia.
AC DI-04882
AR LADCI.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE speech impairment and variable expressivity of attention deficit
DE hyperactivity disorder. Some patients manifest developmental and motor
DE delay, hypotonia, and sinus-node dysfunction.
SY Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia.
DR MIM; 617182; phenotype.
DR MedGen; CN239053.
DR MeSH; D065886.
//
ID Laron syndrome.
AC DI-01877
AR LARS.
DE A severe form of growth hormone insensitivity characterized by growth
DE impairment, short stature, dysfunctional growth hormone receptor, and
DE failure to generate insulin-like growth factor I in response to growth
DE hormone.
SY Growth hormone insensitivity syndrome.
SY Growth hormone receptor deficiency.
SY Laron dwarfism.
SY Laron type pituitary dwarfism I.
SY Pituitary dwarfism II.
DR MIM; 262500; phenotype.
DR MedGen; C0271568.
DR MeSH; D046150.
KW KW-0242:Dwarfism.
//
ID Larsen syndrome.
AC DI-01214
AR LRS.
DE An osteochondrodysplasia characterized by large-joint dislocations and
DE characteristic craniofacial abnormalities. The cardinal features of
DE the condition are dislocations of the hip, knee and elbow joints, with
DE equinovarus or equinovalgus foot deformities. Spatula-shaped fingers,
DE most marked in the thumb, are also present. Craniofacial anomalies
DE include hypertelorism, prominence of the forehead, a depressed nasal
DE bridge, and a flattened midface. Cleft palate and short stature are
DE often associated features. Spinal anomalies include scoliosis and
DE cervical kyphosis. Hearing loss is a well-recognized complication.
DR MIM; 150250; phenotype.
DR MedGen; C0175778.
DR MedGen; C1835564.
DR MeSH; D002972.
DR MeSH; D004204.
DR MeSH; D010009.
DR MeSH; D019465.
//
ID Laryngoonychocutaneous syndrome.
AC DI-01879
AR LOCS.
DE Autosomal recessive epithelial disorder confined to the Punjabi Muslim
DE population. The condition is characterized by cutaneous erosions, nail
DE dystrophy and exuberant vascular granulation tissue in certain
DE epithelia, especially conjunctiva and larynx.
DR MIM; 245660; phenotype.
DR MedGen; C1328355.
//
ID Late-onset retinal degeneration.
AC DI-01880
AR LORD.
DE Autosomal dominant disorder characterized by onset in the fifth to
DE sixth decade with night blindness and punctate yellow-white deposits
DE in the retinal fundus, progressing to severe central and peripheral
DE degeneration, with choroidal neovascularization and chorioretinal
DE atrophy.
DR MIM; 605670; phenotype.
DR MedGen; C1854065.
//
ID Lateral meningocele syndrome.
AC DI-04541
AR LMNS.
DE A very rare skeletal disorder with facial anomalies, hypotonia and
DE neurologic dysfunction due to meningocele, a protrusion of the
DE meninges, unaccompanied by neural tissue, through a bony defect in the
DE skull or vertebral column. LMNS facial features include hypertelorism
DE and telecanthus, high arched eyebrows, ptosis, mid-facial hypoplasia,
DE micrognathia, high and narrow palate, low-set ears and a hypotonic
DE appearance. Additional variable features are connective tissue
DE abnormalities, aortic dilation, a high-pitched nasal voice, wormian
DE bones and osteolysis.
SY Lehman syndrome.
SY LMS.
DR MIM; 130720; phenotype.
DR MedGen; C1851710.
DR MeSH; D008588.
//
ID Lathosterolosis.
AC DI-01881
AR LATHOS.
DE An autosomal recessive disorder characterized by multiple congenital
DE anomalies affecting axial and appendicular skeleton, liver, central
DE nervous and urogenital systems, and lysosomal storage.
DR MIM; 607330; phenotype.
DR MedGen; C1846421.
DR MeSH; D043202.
//
ID Laurence-Moon syndrome.
AC DI-04372
AR LNMS.
DE An autosomal recessive syndrome characterized by progressive
DE spinocerebellar degeneration, spastic paraplegia, intellectual
DE disability, hypogonadism, dwarfism, and chorioretinopathy.
DE Trichomegaly is absent.
SY Laurence-Moon-Biedl Syndrome.
DR MIM; 245800; phenotype.
DR MedGen; C0023138.
DR MeSH; D007849.
KW KW-0242:Dwarfism.
KW KW-0682:Retinitis pigmentosa.
KW KW-0991:Intellectual disability.
//
ID Laurin-Sandrow syndrome.
AC DI-04275
AR LSS.
DE A rare autosomal dominant disorder characterized by polysyndactyly of
DE hands and/or feet, mirror image duplication of the feet, nasal
DE defects, and loss of identity between fibula and tibia. Some patients
DE do not have nasal abnormalities (segmental Laurin-Sandrow syndrome).
SY Duplication of fibula and ulna with absence of tibia and radius.
SY MIP.
SY Mirror hands and feet with nasal defects.
SY Mirror-image polydactyly.
SY Sandrow syndrome.
SY Segmental Laurin-Sandrow syndrome.
SY Tetramelic mirror-image polydactyly.
SY TMIP.
DR MIM; 135750; phenotype.
DR MedGen; C1851100.
DR MeSH; D017880.
//
ID Leber congenital amaurosis 1.
AC DI-00629
AR LCA1.
DE A severe dystrophy of the retina, typically becoming evident in the
DE first years of life. Visual function is usually poor and often
DE accompanied by nystagmus, sluggish or near-absent pupillary responses,
DE photophobia, high hyperopia and keratoconus.
SY Leber congenital amaurosis type I.
DR MIM; 204000; phenotype.
DR MedGen; C2931258.
DR MedGen; CN034165.
DR MeSH; D057130.
KW KW-0901:Leber congenital amaurosis.
//
ID Leber congenital amaurosis 10.
AC DI-00637
AR LCA10.
DE A severe dystrophy of the retina, typically becoming evident in the
DE first years of life. Visual function is usually poor and often
DE accompanied by nystagmus, sluggish or near-absent pupillary responses,
DE photophobia, high hyperopia and keratoconus.
DR MIM; 611755; phenotype.
DR MedGen; C1857821.
DR MeSH; D057130.
KW KW-0901:Leber congenital amaurosis.
KW KW-1186:Ciliopathy.
//
ID Leber congenital amaurosis 11.
AC DI-03048
AR LCA11.
DE A severe dystrophy of the retina, typically becoming evident in the
DE first years of life. Visual function is usually poor and often
DE accompanied by nystagmus, sluggish or near-absent pupillary responses,
DE photophobia, high hyperopia and keratoconus.
DR MIM; 613837; phenotype.
DR MedGen; C1840284.
DR MeSH; D057130.
KW KW-0901:Leber congenital amaurosis.
//
ID Leber congenital amaurosis 12.
AC DI-00638
AR LCA12.
DE A severe dystrophy of the retina, typically becoming evident in the
DE first years of life. Visual function is usually poor and often
DE accompanied by nystagmus, sluggish or near-absent pupillary responses,
DE photophobia, high hyperopia and keratoconus.
DR MIM; 610612; phenotype.
DR MedGen; C1857743.
DR MeSH; D057130.
KW KW-0901:Leber congenital amaurosis.
//
ID Leber congenital amaurosis 13.
AC DI-00639
AR LCA13.
DE A severe dystrophy of the retina, typically becoming evident in the
DE first years of life. Visual function is usually poor and often
DE accompanied by nystagmus, sluggish or near-absent pupillary responses,
DE photophobia, high hyperopia and keratoconus.
DR MIM; 612712; phenotype.
DR MedGen; C2675186.
DR MeSH; D057130.
KW KW-0901:Leber congenital amaurosis.
//
ID Leber congenital amaurosis 14.
AC DI-02683
AR LCA14.
DE A severe dystrophy of the retina, typically becoming evident in the
DE first years of life. Visual function is usually poor and often
DE accompanied by nystagmus, sluggish or near-absent pupillary responses,
DE photophobia, high hyperopia and keratoconus.
SY Retinitis pigmentosa juvenile LRAT-related.
SY Severe early-onset retinal dystrophy LRAT-related.
DR MIM; 613341; phenotype.
DR MedGen; C2750063.
DR MedGen; C2750064.
DR MedGen; C2750065.
DR MeSH; D057130.
KW KW-0901:Leber congenital amaurosis.
//
ID Leber congenital amaurosis 15.
AC DI-03049
AR LCA15.
DE A severe dystrophy of the retina, typically becoming evident in the
DE first years of life. Visual function is usually poor and often
DE accompanied by nystagmus, sluggish or near-absent pupillary responses,
DE photophobia, high hyperopia and keratoconus.
DR MIM; 613843; phenotype.
DR MedGen; C3151206.
DR MeSH; D057130.
KW KW-0901:Leber congenital amaurosis.
//
ID Leber congenital amaurosis 16.
AC DI-03236
AR LCA16.
DE A severe dystrophy of the retina, typically becoming evident in the
DE first years of life. Visual function is usually poor and often
DE accompanied by nystagmus, sluggish or near-absent pupillary responses,
DE photophobia, high hyperopia and keratoconus.
DR MIM; 614186; phenotype.
DR MedGen; C3280062.
DR MeSH; D057130.
KW KW-0901:Leber congenital amaurosis.
//
ID Leber congenital amaurosis 17.
AC DI-03831
AR LCA17.
DE A severe dystrophy of the retina, typically becoming evident in the
DE first years of life. Visual function is usually poor and often
DE accompanied by nystagmus, sluggish or almost absent pupillary
DE responses, photophobia, high hyperopia and keratoconus.
DR MIM; 615360; phenotype.
DR MedGen; C3715164.
DR MedGen; CN178541.
DR MeSH; D057130.
KW KW-0901:Leber congenital amaurosis.
//
ID Leber congenital amaurosis 18.
AC DI-04324
AR LCA18.
DE A severe dystrophy of the retina, typically becoming evident in the
DE first years of life. Visual function is usually poor and often
DE accompanied by nystagmus, sluggish or almost absent pupillary
DE responses, photophobia, high hyperopia and keratoconus.
DR MIM; 608133; phenotype.
DR MedGen; CN224078.
DR MeSH; D057130.
KW KW-0901:Leber congenital amaurosis.
//
ID Leber congenital amaurosis 19.
AC DI-05621
AR LCA19.
DE A form of Leber congenital amaurosis, a severe dystrophy of the
DE retina, typically becoming evident in the first years of life. Visual
DE function is usually poor and often accompanied by nystagmus, sluggish
DE or near-absent pupillary responses, photophobia, high hyperopia and
DE keratoconus. LCA19 is an autosomal recessive form characterized by
DE reduced vision in early childhood and severely reduced responses of
DE both rods and cones.
DR MIM; 618513; phenotype.
DR MedGen; CN261157.
DR MeSH; D057130.
KW KW-0901:Leber congenital amaurosis.
//
ID Leber congenital amaurosis 2.
AC DI-00630
AR LCA2.
DE A severe dystrophy of the retina, typically becoming evident in the
DE first years of life. Visual function is usually poor and often
DE accompanied by nystagmus, sluggish or near-absent pupillary responses,
DE photophobia, high hyperopia and keratoconus.
SY Leber congenital amaurosis type II.
DR MIM; 204100; phenotype.
DR MedGen; C1859844.
DR MeSH; D057130.
KW KW-0901:Leber congenital amaurosis.
//
ID Leber congenital amaurosis 3.
AC DI-00631
AR LCA3.
DE A severe dystrophy of the retina, typically becoming evident in the
DE first years of life. Visual function is usually poor and often
DE accompanied by nystagmus, sluggish or near-absent pupillary responses,
DE photophobia, high hyperopia and keratoconus.
DR MIM; 604232; phenotype.
DR MedGen; C1858677.
DR MedGen; C2751780.
DR MeSH; D057130.
KW KW-0901:Leber congenital amaurosis.
//
ID Leber congenital amaurosis 4.
AC DI-00632
AR LCA4.
DE A severe dystrophy of the retina, typically becoming evident in the
DE first years of life. Visual function is usually poor and often
DE accompanied by nystagmus, sluggish or near-absent pupillary responses,
DE photophobia, high hyperopia and keratoconus.
DR MIM; 604393; phenotype.
DR MedGen; C1858386.
DR MedGen; C2751763.
DR MedGen; C2751764.
DR MeSH; D057130.
KW KW-0901:Leber congenital amaurosis.
//
ID Leber congenital amaurosis 5.
AC DI-00633
AR LCA5.
DE A severe dystrophy of the retina, typically becoming evident in the
DE first years of life. Visual function is usually poor and often
DE accompanied by nystagmus, sluggish or near-absent pupillary responses,
DE photophobia, high hyperopia and keratoconus.
DR MIM; 604537; phenotype.
DR MedGen; C1858301.
DR MeSH; D057130.
KW KW-0901:Leber congenital amaurosis.
//
ID Leber congenital amaurosis 6.
AC DI-00634
AR LCA6.
DE A severe dystrophy of the retina, typically becoming evident in the
DE first years of life. Visual function is usually poor and often
DE accompanied by nystagmus, sluggish or near-absent pupillary responses,
DE photophobia, high hyperopia and keratoconus.
DR MIM; 613826; phenotype.
DR MedGen; C1854260.
DR MeSH; D057130.
KW KW-0901:Leber congenital amaurosis.
//
ID Leber congenital amaurosis 7.
AC DI-00635
AR LCA7.
DE A severe dystrophy of the retina, typically becoming evident in the
DE first years of life. Visual function is usually poor and often
DE accompanied by nystagmus, sluggish or near-absent pupillary responses,
DE photophobia, high hyperopia and keratoconus.
DR MIM; 613829; phenotype.
DR MedGen; C3151192.
DR MeSH; D057130.
KW KW-0901:Leber congenital amaurosis.
//
ID Leber congenital amaurosis 8.
AC DI-00636
AR LCA8.
DE A severe dystrophy of the retina, typically becoming evident in the
DE first years of life. Visual function is usually poor and often
DE accompanied by nystagmus, sluggish or near-absent pupillary responses,
DE photophobia, high hyperopia and keratoconus.
DR MIM; 613835; phenotype.
DR MedGen; C3151202.
DR MeSH; D057130.
KW KW-0901:Leber congenital amaurosis.
//
ID Leber congenital amaurosis 9.
AC DI-03534
AR LCA9.
DE A severe dystrophy of the retina, typically becoming evident in the
DE first years of life. Visual function is usually poor and often
DE accompanied by nystagmus, sluggish or near-absent pupillary responses,
DE photophobia, high hyperopia and keratoconus.
DR MIM; 608553; phenotype.
DR MedGen; C1837873.
DR MeSH; D057130.
KW KW-0901:Leber congenital amaurosis.
//
ID Leber congenital amaurosis with early-onset deafness.
AC DI-05197
AR LCAEOD.
DE An autosomal dominant disease characterized by severe retinal
DE degeneration and sensorineural hearing loss. Symptoms occur within the
DE first decade of life. Onset at birth is observed in some patients.
DR MIM; 617879; phenotype.
DR MedGen; CN807950.
DR MeSH; D054062.
DR MeSH; D057130.
KW KW-0209:Deafness.
KW KW-0901:Leber congenital amaurosis.
//
ID Leber hereditary optic neuropathy.
AC DI-00640
AR LHON.
DE A maternally inherited form of Leber hereditary optic neuropathy, a
DE mitochondrial disease resulting in bilateral painless loss of central
DE vision due to selective degeneration of the retinal ganglion cells and
DE their axons. The disorder shows incomplete penetrance and male
DE predominance. Cardiac conduction defects and neurological defects have
DE also been described in some LHON patients. LHON results from primary
DE mitochondrial DNA mutations affecting the respiratory chain complexes.
SY Leber optic atrophy.
SY LOA.
SY Optic atrophy Leber type.
DR MIM; 535000; phenotype.
DR MedGen; C0917796.
DR MeSH; D029242.
KW KW-0429:Leber hereditary optic neuropathy.
//
ID Leber hereditary optic neuropathy with dystonia.
AC DI-00641
AR LDYT.
DE A form of Leber hereditary optic neuropathy, a mitochondrial disease
DE resulting in bilateral painless loss of central vision due to
DE selective degeneration of the retinal ganglion cells and their axons.
DE The disorder shows incomplete penetrance and male predominance. LDYT
DE is characterized by the association of optic atrophy and central
DE vision loss with dystonia.
SY Familial dystonia with visual failure and striatal lucencies.
SY Leber optic atrophy and dystonia.
SY Marsden syndrome.
DR MIM; 500001; phenotype.
DR MedGen; C1839040.
DR MeSH; D029242.
KW KW-0429:Leber hereditary optic neuropathy.
KW KW-1023:Dystonia.
//
ID Leber hereditary optic neuropathy, autosomal recessive.
AC DI-06147
AR LHONAR.
DE An autosomal recessive form of Leber hereditary optic neuropathy, a
DE mitochondrial disease resulting in bilateral painless loss of central
DE vision due to selective degeneration of the retinal ganglion cells and
DE their axons. The disorder shows incomplete penetrance and male
DE predominance.
SY MC1DN38.
SY Mitochondrial complex I deficiency, nuclear type 38.
DR MIM; 619382; phenotype.
DR MedGen; CN297341.
DR MeSH; D029242.
KW KW-0429:Leber hereditary optic neuropathy.
//
ID Leber hereditary optic neuropathy, modifier.
AC DI-06012
AR LOAM.
DE A form of Leber hereditary optic neuropathy, a mitochondrial disease
DE resulting in bilateral painless loss of central vision due to
DE selective degeneration of the retinal ganglion cells and their axons.
DE The disorder shows incomplete penetrance and male predominance. Leber
DE hereditary optic neuropathy is maternally inherited in most case and
DE results from primary mitochondrial DNA mutations affecting the
DE respiratory chain complexes. Mutations in modifier genes can influence
DE disease expression. LOAM exhibits increased penetrance and earlier age
DE of onset compared to Leber optic atrophy caused by MTND4 primary
DE mutations, due to the action of mutations in PRICKLE3 as a modifier
DE gene.
SY Leber hereditary optic neuropathy, modifier of.
SY Leber hereditary optic neuropathy susceptibility.
SY LOAS.
SY Modifier of Leber hereditary optic neuropathy.
DR MIM; 308905; phenotype.
DR MedGen; C1839891.
DR MeSH; D029242.
KW KW-0429:Leber hereditary optic neuropathy.
//
ID Lecithin-cholesterol acyltransferase deficiency.
AC DI-00642
AR LCATD.
DE A disorder of lipoprotein metabolism characterized by inadequate
DE esterification of plasmatic cholesterol. Two clinical forms are
DE recognized: complete LCAT deficiency and fish-eye disease. LCATD is
DE generally referred to the complete form which is associated with
DE absence of both alpha and beta LCAT activities resulting in
DE esterification anomalies involving both HDL (alpha-LCAT activity) and
DE LDL (beta-LCAT activity). It causes a typical triad of diffuse corneal
DE opacities, target cell hemolytic anemia, and proteinuria with renal
DE failure.
SY Familial LCAT deficiency.
SY FLD.
SY Lecithin:cholesterol acyltransferase deficiency.
SY Norum disease.
DR MIM; 245900; phenotype.
DR MedGen; C0023195.
DR MeSH; D007863.
//
ID Left ventricular non-compaction 1.
AC DI-00823
AR LVNC1.
DE A form of left ventricular non-compaction, a cardiomyopathy due to
DE myocardial morphogenesis arrest and characterized by a hypertrophic
DE left ventricle, a severely thickened 2-layered myocardium, numerous
DE prominent trabeculations, deep intertrabecular recesses, and poor
DE systolic function. Clinical manifestations are variable. Some affected
DE individuals experience no symptoms at all, others develop heart
DE failure. In some cases, left ventricular non-compaction is associated
DE with other congenital heart anomalies. LVNC1 is an autosomal dominant
DE condition.
SY Left ventricular non-compaction with or without congenital heart defects.
SY Non-compaction of left ventricular myocardium isolated autosomal dominant type 1.
SY Non-compaction of left ventricular myocardium with congenital heart defects.
DR MIM; 604169; phenotype.
DR MedGen; C1858725.
DR MeSH; D056830.
KW KW-0122:Cardiomyopathy.
//
ID Left ventricular non-compaction 10.
AC DI-03871
AR LVNC10.
DE A form of left ventricular non-compaction, a cardiomyopathy due to
DE myocardial morphogenesis arrest and characterized by a hypertrophic
DE left ventricle, a severely thickened 2-layered myocardium, numerous
DE prominent trabeculations, deep intertrabecular recesses, and poor
DE systolic function. Clinical manifestations are variable. Some affected
DE individuals experience no symptoms at all, others develop heart
DE failure. In some cases, left ventricular non-compaction is associated
DE with other congenital heart anomalies. LVNC10 is an autosomal dominant
DE condition.
SY Left ventricular noncompaction 10.
DR MIM; 615396; phenotype.
DR MedGen; C3715165.
DR MedGen; CN179849.
DR MeSH; D056830.
KW KW-0122:Cardiomyopathy.
//
ID Left ventricular non-compaction 3.
AC DI-01489
AR LVNC3.
DE A form of left ventricular non-compaction, a cardiomyopathy due to
DE myocardial morphogenesis arrest and characterized by a hypertrophic
DE left ventricle, a severely thickened 2-layered myocardium, numerous
DE prominent trabeculations, deep intertrabecular recesses, and poor
DE systolic function. Clinical manifestations are variable. Some affected
DE individuals experience no symptoms at all, others develop heart
DE failure. In some cases, left ventricular non-compaction is associated
DE with other congenital heart anomalies. LVNC3 is an autosomal dominant
DE condition.
SY Left ventricular noncompaction 3.
DR MIM; 601493; phenotype.
DR MedGen; C3152137.
DR MeSH; D056830.
KW KW-0122:Cardiomyopathy.
//
ID Left ventricular non-compaction 5.
AC DI-05185
AR LVNC5.
DE A form of left ventricular non-compaction, a cardiomyopathy due to
DE myocardial morphogenesis arrest and characterized by a hypertrophic
DE left ventricle, a severely thickened 2-layered myocardium, numerous
DE prominent trabeculations, deep intertrabecular recesses, and poor
DE systolic function. Clinical manifestations are variable. Some affected
DE individuals experience no symptoms at all, others develop heart
DE failure. In some cases, left ventricular non-compaction is associated
DE with other congenital heart anomalies. LVNC5 is an autosomal dominant
DE condition.
DR MIM; 613426; phenotype.
DR MedGen; C3150690.
DR MeSH; D056830.
KW KW-0122:Cardiomyopathy.
//
ID Left ventricular non-compaction 7.
AC DI-03659
AR LVNC7.
DE A form of left ventricular non-compaction, a cardiomyopathy due to
DE myocardial morphogenesis arrest and characterized by a hypertrophic
DE left ventricle, a severely thickened 2-layered myocardium, numerous
DE prominent trabeculations, deep intertrabecular recesses, and poor
DE systolic function. Clinical manifestations are variable. Some affected
DE individuals experience no symptoms at all, others develop heart
DE failure. In some cases, left ventricular non-compaction is associated
DE with other congenital heart anomalies. LVNC7 is an autosomal dominant
DE condition.
SY Left ventricular noncompaction 7.
DR MIM; 615092; phenotype.
DR MedGen; C3554496.
DR MeSH; D056830.
KW KW-0122:Cardiomyopathy.
//
ID Left ventricular non-compaction 8.
AC DI-03859
AR LVNC8.
DE A form of left ventricular non-compaction, a cardiomyopathy due to
DE myocardial morphogenesis arrest and characterized by a hypertrophic
DE left ventricle, a severely thickened 2-layered myocardium, numerous
DE prominent trabeculations, deep intertrabecular recesses, and poor
DE systolic function. Clinical manifestations are variable. Some affected
DE individuals experience no symptoms at all, others develop heart
DE failure. In some cases, left ventricular non-compaction is associated
DE with other congenital heart anomalies. LVNC8 is an autosomal dominant
DE condition.
SY Left ventricular noncompaction 8.
DR MIM; 615373; phenotype.
DR MedGen; C3809288.
DR MedGen; CN178849.
DR MeSH; D056830.
KW KW-0122:Cardiomyopathy.
//
ID Left ventricular non-compaction 9.
AC DI-03886
AR LVNC9.
DE A form of left ventricular non-compaction, a cardiomyopathy due to
DE myocardial morphogenesis arrest and characterized by a hypertrophic
DE left ventricle, a severely thickened 2-layered myocardium, numerous
DE prominent trabeculations, deep intertrabecular recesses, and poor
DE systolic function. Clinical manifestations are variable. Some affected
DE individuals experience no symptoms at all, others develop heart
DE failure. In some cases, left ventricular non-compaction is associated
DE with other congenital heart anomalies. LVNC9 is an autosomal dominant
DE condition.
SY Left ventricular noncompaction 9.
DR MIM; 611878; phenotype.
DR MedGen; C3808145.
DR MedGen; CN179850.
DR MeSH; D056830.
KW KW-0122:Cardiomyopathy.
//
ID Left-right axis malformations.
AC DI-01883
AR LRAM.
DE The defect includes left pulmonary isomerism, with cardiac anomalies
DE characterized by complete atrioventricular canal defect and
DE hypoplastic left ventricle, and interrupted inferior vena cava.
DR MIM; 601877; gene+phenotype.
DR MedGen; C1866091.
KW KW-1056:Heterotaxy.
//
ID Legg-Calve-Perthes disease.
AC DI-01885
AR LCPD.
DE Characterized by loss of circulation to the femoral head, resulting in
DE avascular necrosis in a growing child. Clinical pictures of the
DE disease vary, depending on the phase of disease progression through
DE ischemia, revascularization, fracture and collapse, and repair and
DE remodeling of the bone.
SY Legg-Perthes disease.
SY Perthes disease.
DR MIM; 150600; phenotype.
DR MedGen; C0023234.
//
ID Legius syndrome.
AC DI-02046
AR LGSS.
DE An autosomal dominant syndrome characterized mainly by cafe-au-lait
DE macules without neurofibromas or other tumor manifestations of
DE neurofibromatosis type 1, axillary freckling, and macrocephaly.
DE Additional clinical manifestations include Noonan-like facial
DE dysmorphism, lipomas, learning disabilities, and features of
DE attention-deficit hyperactivity disorder.
SY Neurofibromatosis 1-like syndrome.
SY NFLS.
DR MIM; 611431; phenotype.
DR MedGen; C1969623.
DR MeSH; D019080.
//
ID Leigh syndrome.
AC DI-01886
AR LS.
DE An early-onset progressive neurodegenerative disorder characterized by
DE the presence of focal, bilateral lesions in one or more areas of the
DE central nervous system including the brainstem, thalamus, basal
DE ganglia, cerebellum and spinal cord. Clinical features depend on which
DE areas of the central nervous system are involved and include subacute
DE onset of psychomotor retardation, hypotonia, ataxia, weakness, vision
DE loss, eye movement abnormalities, seizures, and dysphagia.
SY Leigh Disease.
SY Leigh syndrome due to mitochondrial complex I deficiency.
SY Leigh syndrome due to mitochondrial complex II deficiency.
SY Leigh syndrome due to mitochondrial complex III deficiency.
SY Leigh syndrome due to mitochondrial complex IV deficiency.
SY Leigh syndrome due to mitochondrial complex V deficiency.
SY Necrotizing encephalopathy infantile subacute of Leigh.
SY SNE.
DR MIM; 256000; phenotype.
DR MedGen; C0023264.
DR MedGen; C1838951.
DR MedGen; C1850597.
DR MedGen; C1850598.
DR MedGen; C1850600.
DR MedGen; C2931891.
DR MeSH; D007888.
KW KW-0431:Leigh syndrome.
//
ID Lenz-Majewski hyperostotic dwarfism.
AC DI-04022
AR LMHD.
DE A syndrome of intellectual disability and multiple congenital
DE anomalies that features generalized craniotubular hyperostosis. LMHD
DE is characterized by the combination of sclerosing bone dysplasia,
DE intellectual disability and distinct craniofacial, dental, cutaneous
DE and distal limb anomalies. The progressive generalized hyperostosis
DE associated with this syndrome affects the cranium, the vertebrae and
DE the diaphyses of tubular bones, leading to severe growth restriction.
SY Lenz-Majewski syndrome.
SY LMS.
DR MIM; 151050; phenotype.
DR MedGen; C0432269.
DR MeSH; D004392.
DR MeSH; D008607.
DR MeSH; D015576.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
//
ID LEOPARD syndrome 1.
AC DI-01888
AR LPRD1.
DE A disorder characterized by lentigines, electrocardiographic
DE conduction abnormalities, ocular hypertelorism, pulmonic stenosis,
DE abnormalities of genitalia, retardation of growth, and sensorineural
DE deafness.
DR MIM; 151100; phenotype.
DR MedGen; C0175704.
DR MedGen; CN074218.
DR MeSH; D044542.
KW KW-0209:Deafness.
//
ID LEOPARD syndrome 2.
AC DI-01889
AR LPRD2.
DE A disorder characterized by lentigines, electrocardiographic
DE conduction abnormalities, ocular hypertelorism, pulmonic stenosis,
DE abnormalities of genitalia, retardation of growth, and sensorineural
DE deafness.
DR MIM; 611554; phenotype.
DR MedGen; C1969056.
DR MeSH; D044542.
KW KW-0209:Deafness.
//
ID LEOPARD syndrome 3.
AC DI-02991
AR LPRD3.
DE A disorder characterized by lentigines, electrocardiographic
DE conduction abnormalities, ocular hypertelorism, pulmonic stenosis,
DE abnormalities of genitalia, retardation of growth, and sensorineural
DE deafness.
DR MIM; 613707; phenotype.
DR MedGen; C3150971.
DR MeSH; D044542.
KW KW-0209:Deafness.
//
ID Leprechaunism.
AC DI-01890
AR LEPRCH.
DE Represents the most severe form of insulin resistance syndrome,
DE characterized by intrauterine and postnatal growth retardation and
DE death in early infancy. Inheritance is autosomal recessive.
SY Donohue syndrome.
DR MIM; 246200; phenotype.
DR MedGen; C0265344.
DR MedGen; C0271689.
//
ID Leptin deficiency.
AC DI-03637
AR LEPD.
DE A rare disease characterized by low levels of serum leptin, severe
DE hyperphagia and intractable obesity from an early age.
SY Leptin deficiency or dysfunction.
SY Morbid obesity.
SY Morbid obesity due to leptin deficiency.
SY Obesity due to congenital leptin deficiency.
DR MIM; 614962; phenotype.
DR MedGen; C3554224.
DR MedGen; CN069970.
DR MeSH; D009767.
KW KW-0550:Obesity.
//
ID Leptin receptor deficiency.
AC DI-03638
AR LEPRD.
DE A rare disease characterized by normal levels of serum leptin,
DE hyperphagia and severe obesity from an early age. Additional features
DE include alterations in immune function, and delayed puberty due to
DE hypogonadotropic hypogonadism.
SY Morbid obesity.
SY Morbid obesity due to leptin receptor deficiency.
DR MIM; 614963; phenotype.
DR MedGen; C3554225.
DR MedGen; CN120495.
DR MeSH; D009767.
KW KW-0550:Obesity.
//
ID Leri-Weill dyschondrosteosis.
AC DI-01891
AR LWD.
DE Dominantly inherited skeletal dysplasia characterized by moderate
DE short stature predominantly because of short mesomelic limb segments.
DE It is often associated with the Madelung deformity of the wrist,
DE comprising bowing of the radius and dorsal dislocation of the distal
DE ulna.
DR MIM; 127300; phenotype.
DR MedGen; C0152441.
DR MedGen; C0265309.
DR MedGen; CN031459.
//
ID Lesch-Nyhan syndrome.
AC DI-01892
AR LNS.
DE Characterized by complete lack of enzymatic activity that results in
DE hyperuricemia, choreoathetosis, intellectual disability, and
DE compulsive self-mutilation.
DR MIM; 300322; phenotype.
DR MedGen; C0023374.
DR MedGen; C1845892.
DR MedGen; C1845893.
//
ID Lessel-Kreienkamp syndrome.
AC DI-06006
AR LESKRES.
DE An autosomal dominant disorder characterized by global developmental
DE delay, intellectual disability of variable degree, and speech and
DE language delay apparent from infancy or early childhood. Behavioral
DE disorders are observed in most patients. Additional variable features
DE include seizures, hypotonia, gait abnormalities, visual and cardiac
DE defects, and non-specific facial dysmorphism.
DR MIM; 619149; phenotype.
DR MedGen; CN294831.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Lessel-Kubisch syndrome.
AC DI-05687
AR LSKB.
DE An autosomal recessive progeroid syndrome characterized by short
DE stature, pinched facial features, prematurely gray hair, scleroderma-
DE like skin changes, small kidneys and consecutive kidney failure,
DE followed by severe arterial hypertension.
DR MIM; 618681; phenotype.
DR MedGen; CN262921.
DR MeSH; D019588.
//
ID Lethal congenital contracture syndrome 1.
AC DI-00644
AR LCCS1.
DE A form of lethal congenital contracture syndrome, an autosomal
DE recessive disorder characterized by degeneration of anterior horn
DE neurons, extreme skeletal muscle atrophy, and congenital non-
DE progressive joint contractures (arthrogryposis). The contractures can
DE involve the upper or lower limbs and/or the vertebral column, leading
DE to various degrees of flexion or extension limitations evident at
DE birth. LCCS1 patients manifest early fetal hydrops and akinesia,
DE micrognathia, pulmonary hypoplasia, pterygia, and multiple joint
DE contractures. It leads to prenatal death.
SY Multiple contracture syndrome Finnish type.
DR MIM; 253310; phenotype.
DR MedGen; C1854664.
DR MeSH; D001176.
//
ID Lethal congenital contracture syndrome 10.
AC DI-04766
AR LCCS10.
DE A form of lethal congenital contracture syndrome, an autosomal
DE recessive disorder characterized by degeneration of anterior horn
DE neurons, extreme skeletal muscle atrophy and congenital non-
DE progressive joint contractures. The contractures can involve the upper
DE or lower limbs and/or the vertebral column, leading to various degrees
DE of flexion or extension limitations evident at birth.
DR MIM; 617022; phenotype.
DR MedGen; CN237173.
DR MeSH; D001176.
//
ID Lethal congenital contracture syndrome 11.
AC DI-04874
AR LCCS11.
DE A form of lethal congenital contracture syndrome, an autosomal
DE recessive disorder characterized by degeneration of anterior horn
DE neurons, extreme skeletal muscle atrophy and congenital non-
DE progressive joint contractures. The contractures can involve the upper
DE or lower limbs and/or the vertebral column, leading to various degrees
DE of flexion or extension limitations evident at birth.
DR MIM; 617194; phenotype.
DR MedGen; CN239054.
DR MeSH; D001176.
//
ID Lethal congenital contracture syndrome 2.
AC DI-00645
AR LCCS2.
DE A form of lethal congenital contracture syndrome, an autosomal
DE recessive disorder characterized by degeneration of anterior horn
DE neurons, extreme skeletal muscle atrophy, and congenital non-
DE progressive joint contractures (arthrogryposis). The contractures can
DE involve the upper or lower limbs and/or the vertebral column, leading
DE to various degrees of flexion or extension limitations evident at
DE birth. LCCS2 patients manifest craniofacial/ocular findings, lack of
DE hydrops, multiple pterygia, and fractures, as well as a normal
DE duration of pregnancy and a unique feature of a markedly distended
DE urinary bladder (neurogenic bladder defect). The phenotype suggests a
DE spinal cord neuropathic etiology.
SY Israeli Bedouin multiple contracture syndrome type A.
DR MIM; 607598; phenotype.
DR MedGen; C1843478.
DR MeSH; D001176.
//
ID Lethal congenital contracture syndrome 3.
AC DI-01893
AR LCCS3.
DE A form of lethal congenital contracture syndrome, an autosomal
DE recessive disorder characterized by degeneration of anterior horn
DE neurons, extreme skeletal muscle atrophy, and congenital non-
DE progressive joint contractures (arthrogryposis). The contractures can
DE involve the upper or lower limbs and/or the vertebral column, leading
DE to various degrees of flexion or extension limitations evident at
DE birth. LCCS3 patients present at birth with severe multiple joint
DE contractures and severe muscle wasting and atrophy, mainly in the
DE legs. Death occurs minutes to hours after birth due to respiratory
DE insufficiency. The phenotype can be distinguished from that of LCCS1
DE by the absence of hydrops, fractures and multiple pterygia, and from
DE LCCS2 by the absence of neurogenic bladder defect.
SY Multiple contractural syndrome Israeli Bedouin type B.
DR MIM; 611369; phenotype.
DR MedGen; C1969655.
DR MeSH; D001176.
//
ID Lethal congenital contracture syndrome 4.
AC DI-03609
AR LCCS4.
DE A form of lethal congenital contracture syndrome, an autosomal
DE recessive disorder characterized by degeneration of anterior horn
DE neurons, extreme skeletal muscle atrophy and congenital non-
DE progressive joint contractures. The contractures can involve the upper
DE or lower limbs and/or the vertebral column, leading to various degrees
DE of flexion or extension limitations evident at birth.
DR MIM; 614915; phenotype.
DR MedGen; C3554046.
DR MedGen; CN160485.
DR MeSH; D001176.
//
ID Lethal congenital contracture syndrome 5.
AC DI-03854
AR LCCS5.
DE A form of lethal congenital contracture syndrome, an autosomal
DE recessive disorder characterized by degeneration of anterior horn
DE neurons, extreme skeletal muscle atrophy and congenital non-
DE progressive joint contractures. The contractures can involve the upper
DE or lower limbs and/or the vertebral column, leading to various degrees
DE of flexion or extension limitations evident at birth.
SY Autosomal recessive lethal centronuclear myopathy.
DR MIM; 615368; phenotype.
DR MedGen; C3809272.
DR MedGen; CN178709.
DR MeSH; D001176.
//
ID Lethal congenital contracture syndrome 6.
AC DI-04327
AR LCCS6.
DE A form of lethal congenital contracture syndrome, an autosomal
DE recessive disorder characterized by degeneration of anterior horn
DE neurons, extreme skeletal muscle atrophy and congenital non-
DE progressive joint contractures. The contractures can involve the upper
DE or lower limbs and/or the vertebral column, leading to various degrees
DE of flexion or extension limitations evident at birth. LCCS6 features
DE include severe polyhydramnios and absent stomach, in addition to
DE multiple contracture deformities.
DR MIM; 616248; phenotype.
DR MedGen; CN227921.
DR MeSH; D001176.
//
ID Lethal congenital contracture syndrome 7.
AC DI-04378
AR LCCS7.
DE A form of lethal congenital contracture syndrome, an autosomal
DE recessive disorder characterized by degeneration of anterior horn
DE neurons, extreme skeletal muscle atrophy and congenital non-
DE progressive joint contractures. The contractures can involve the upper
DE or lower limbs and/or the vertebral column, leading to various degrees
DE of flexion or extension limitations evident at birth. LCCS7 is a
DE severe axoglial disease characterized by congenital distal joint
DE contractures, polyhydramnios, reduced fetal movements, and motor
DE paralysis leading to death early in the neonatal period.
DR MIM; 616286; phenotype.
DR MedGen; CN228895.
DR MeSH; D001176.
//
ID Lethal congenital contracture syndrome 8.
AC DI-04380
AR LCCS8.
DE A form of lethal congenital contracture syndrome, an autosomal
DE recessive disorder characterized by degeneration of anterior horn
DE neurons, extreme skeletal muscle atrophy and congenital non-
DE progressive joint contractures. The contractures can involve the upper
DE or lower limbs and/or the vertebral column, leading to various degrees
DE of flexion or extension limitations evident at birth. LCCS8 is an
DE axoglial form of arthrogryposis multiplex congenita, characterized by
DE congenital distal joint contractures, reduced fetal movements, and
DE severe motor paralysis leading to death early in the neonatal period.
DR MIM; 616287; phenotype.
DR MedGen; CN228896.
DR MeSH; D001176.
//
ID Lethal congenital contracture syndrome 9.
AC DI-04504
AR LCCS9.
DE A form of lethal congenital contracture syndrome, an autosomal
DE recessive disorder characterized by degeneration of anterior horn
DE neurons, extreme skeletal muscle atrophy and congenital non-
DE progressive joint contractures. The contractures can involve the upper
DE or lower limbs and/or the vertebral column, leading to various degrees
DE of flexion or extension limitations evident at birth.
DR MIM; 616503; phenotype.
DR MedGen; CN235582.
DR MeSH; D001176.
//
ID Lethal tight skin contracture syndrome.
AC DI-01894
AR LTSCS.
DE Rare disorder mainly characterized by intrauterine growth retardation,
DE tight and rigid skin with erosions, prominent superficial vasculature
DE and epidermal hyperkeratosis, facial features (small mouth, small
DE pinched nose and micrognathia), sparse/absent eyelashes and eyebrows,
DE mineralization defects of the skull, thin dysplastic clavicles,
DE pulmonary hypoplasia, multiple joint contractures and an early
DE neonatal lethal course. Liveborn children usually die within the first
DE week of life. The overall prevalence of consanguineous cases suggested
DE an autosomal recessive inheritance.
SY RD.
SY Restrictive dermopathy.
DR MIM; 275210; phenotype.
DR MedGen; C0406585.
DR MeSH; D012868.
//
ID Leucine-induced hypoglycemia.
AC DI-01896
AR LIH.
DE Rare cause of hypoglycemia and is described as a condition in which
DE symptomatic hypoglycemia is provoked by high protein feedings.
DE Hypoglycemia is also elicited by administration of oral or intravenous
DE infusions of a single amino acid, leucine.
SY Leucine-sensitive hypoglycemia of infancy.
DR MIM; 240800; phenotype.
DR MedGen; C0271714.
//
ID Leukemia, acute lymphoblastic.
AC DI-03076
AR ALL.
DE A subtype of acute leukemia, a cancer of the white blood cells. ALL is
DE a malignant disease of bone marrow and the most common malignancy
DE diagnosed in children. The malignant cells are lymphoid precursor
DE cells (lymphoblasts) that are arrested in an early stage of
DE development. The lymphoblasts replace the normal marrow elements,
DE resulting in a marked decrease in the production of normal blood
DE cells. Consequently, anemia, thrombocytopenia, and neutropenia occur
DE to varying degrees. The lymphoblasts also proliferate in organs other
DE than the marrow, particularly the liver, spleen, and lymphnodes.
SY ALL1.
SY Childhood acute lymphoblastic leukemia.
SY Leukemia acute lymphoblastic 1.
SY Leukemia acute lymphoblastic B-hyperdiploid.
SY Leukemia acute lymphocytic.
SY Leukemia acute lymphocytic 1.
SY Leukemia B-cell acute lymphoblastic.
SY Leukemia T-cell acute lymphoblastic.
DR MIM; 613065; phenotype.
DR MedGen; C1961102.
DR MedGen; C2751594.
DR MedGen; C2751595.
DR MedGen; C2751596.
DR MedGen; C2751597.
DR MedGen; C2751598.
DR MeSH; D054198.
//
ID Leukemia, acute lymphoblastic, 3.
AC DI-03959
AR ALL3.
DE A subtype of acute leukemia, a cancer of the white blood cells. Acute
DE lymphoblastic anemia is a malignant disease of bone marrow and the
DE most common malignancy diagnosed in children. The malignant cells are
DE lymphoid precursor cells (lymphoblasts) that are arrested in an early
DE stage of development. The lymphoblasts replace the normal marrow
DE elements, resulting in a marked decrease in the production of normal
DE blood cells. Consequently, anemia, thrombocytopenia, and neutropenia
DE occur to varying degrees. The lymphoblasts also proliferate in organs
DE other than the marrow, particularly the liver, spleen, and lymphnodes.
DR MIM; 613065; phenotype.
DR MedGen; C3809874.
DR MeSH; D054198.
//
ID Leukemia, acute myelogenous.
AC DI-01171
AR AML.
DE A subtype of acute leukemia, a cancer of the white blood cells. AML is
DE a malignant disease of bone marrow characterized by maturational
DE arrest of hematopoietic precursors at an early stage of development.
DE Clonal expansion of myeloid blasts occurs in bone marrow, blood, and
DE other tissue. Myelogenous leukemias develop from changes in cells that
DE normally produce neutrophils, basophils, eosinophils and monocytes.
SY Acute myeloblastic leukemia.
SY Acute myelocytic leukemia.
SY Acute myeloid leukemia.
SY Acute non-lymphoblastic leukemia.
SY Acute non-lymphocytic leukemia.
DR MIM; 601626; phenotype.
DR MedGen; C0023467.
DR MedGen; C3275959.
DR MeSH; D015470.
//
ID Leukemia, chronic lymphocytic.
AC DI-01350
AR CLL.
DE A chronic leukemia in which functionally incompetent B-lymphocytes
DE progressively accumulate in the bone marrow, blood, and lymphoid
DE tissues. The clinical evolution of the disorder is heterogeneous, with
DE some patients having indolent disease and others having aggressive
DE disease and short survival.
SY B-cell chronic lymphocytic Leukemia.
SY Chronic lymphatic leukemia.
SY Chronic lymphoid leukemia.
DR MIM; 151400; phenotype.
DR MedGen; C0023434.
DR MeSH; D015451.
//
ID Leukemia, chronic myeloid.
AC DI-03735
AR CML.
DE A clonal myeloproliferative disorder of a pluripotent stem cell with a
DE specific cytogenetic abnormality, the Philadelphia chromosome (Ph),
DE involving myeloid, erythroid, megakaryocytic, B-lymphoid, and
DE sometimes T-lymphoid cells, but not marrow fibroblasts.
SY Chronic myelogenous leukemia.
DR MIM; 608232; phenotype.
DR MedGen; C0023473.
DR MeSH; D015464.
//
ID Leukemia, chronic myeloid, atypical.
AC DI-03829
AR ACML.
DE A myeloproliferative disorder that shares clinical and laboratory
DE features with chronic myeloid leukemia but lacks the pathognomonic
DE Philadelphia chromosome and the corresponding BCR/ABL1 fusion
DE transcript. Features include myeloid predominance in the bone marrow,
DE myeloid proliferation and low leukocyte alkaline phosphatase value,
DE splenomegaly, hepatomegaly, elevated white blood cell count. Enlarged
DE spleen may also be associated with a hypermetabolic state, fever,
DE weight loss, and chronic fatigue. The enlarged liver may contribute to
DE the patient's weight loss.
SY Atypical chronic myeloid leukemia BCR-ABL1 negative.
DR MIM; 608232; phenotype.
DR MedGen; C0349640.
DR MeSH; D015464.
//
ID Leukemia, juvenile myelomonocytic.
AC DI-01851
AR JMML.
DE An aggressive pediatric myelodysplastic syndrome/myeloproliferative
DE disorder characterized by malignant transformation in the
DE hematopoietic stem cell compartment with proliferation of
DE differentiated progeny. Patients have splenomegaly, enlarged lymph
DE nodes, rashes, and hemorrhages.
SY Juvenile chronic myelogenous leukemia.
DR MIM; 607785; phenotype.
DR MedGen; C0023480.
DR MedGen; C0349639.
DR MeSH; D054429.
//
ID Leukocyte adhesion deficiency 1.
AC DI-01897
AR LAD1.
DE LAD1 patients have recurrent bacterial infections and their leukocytes
DE are deficient in a wide range of adhesion-dependent functions.
DR MIM; 116920; phenotype.
DR MedGen; C0398738.
DR MedGen; C1861766.
//
ID Leukocyte adhesion deficiency 3.
AC DI-01898
AR LAD3.
DE A disorder characterized by recurrent bacterial infections without pus
DE formation, leukocytosis and major bleeding disorders.
SY IADD.
SY Integrin activation deficiency disease.
SY LAD1V.
SY Leukocyte adhesion deficiency 1 variant.
DR MIM; 612840; phenotype.
DR MedGen; C2748536.
//
ID Leukodystrophy and acquired microcephaly with or without dystonia.
AC DI-04639
AR LDAMD.
DE An autosomal recessive neurologic disorder characterized by profound
DE intellectual disability, dystonia, postnatal microcephaly, and white
DE matter abnormalities consistent with leukodystrophy.
DR MIM; 616763; phenotype.
DR MedGen; CN235017.
DR MeSH; D020279.
KW KW-0991:Intellectual disability.
KW KW-1026:Leukodystrophy.
//
ID Leukodystrophy with vanishing white matter.
AC DI-00654
AR VWM.
DE A leukodystrophy that occurs mainly in children. Neurological signs
DE include progressive cerebellar ataxia, spasticity, inconstant optic
DE atrophy and relatively preserved mental abilities. The disease is
DE chronic-progressive with, in most individuals, additional episodes of
DE rapid deterioration following febrile infections or minor head trauma.
DE While childhood onset is the most common form of the disorder, some
DE severe forms are apparent at birth. A severe, early-onset form seen
DE among the Cree and Chippewayan populations of Quebec and Manitoba is
DE called Cree leukoencephalopathy. Milder forms may not become evident
DE until adolescence or adulthood. Some females with milder forms of the
DE disease who survive to adolescence exhibit ovarian dysfunction. This
DE variant of the disorder is called ovarioleukodystrophy.
SY CACH.
SY Childhood ataxia with central nervous system hypomyelinization.
SY CLE.
SY Cree leukoencephalopathy.
SY Leukoencephalopathy with vanishing white matter.
SY Vanishing white matter disease.
DR MIM; 603896; phenotype.
DR MedGen; C1847967.
DR MedGen; C1858991.
DR MedGen; C2931489.
DR MeSH; D020279.
KW KW-1026:Leukodystrophy.
//
ID Leukodystrophy, demyelinating, autosomal dominant, adult-onset.
AC DI-00646
AR ADLD.
DE A slowly progressive and fatal demyelinating leukodystrophy,
DE presenting in the fourth or fifth decade of life. Clinically
DE characterized by early autonomic abnormalities, pyramidal and
DE cerebellar dysfunction, and symmetric demyelination of the CNS. It
DE differs from multiple sclerosis and other demyelinating disorders in
DE that neuropathology shows preservation of oligodendroglia in the
DE presence of subtotal demyelination and lack of astrogliosis.
SY Multiple sclerosis-like disorder.
SY Pelizaeus-Merzbacher disease autosomal dominant.
SY Pelizaeus-Merzbacher disease late-onset type.
DR MIM; 169500; phenotype.
DR MedGen; C1868512.
DR MeSH; D020279.
KW KW-1026:Leukodystrophy.
//
ID Leukodystrophy, globoid cell.
AC DI-00647
AR GLD.
DE An autosomal recessive disorder characterized by insufficient
DE catabolism of several galactolipids that are important for normal
DE myelin production. Four clinical forms are recognized. The infantile
DE form accounts for 90% of cases. It manifests before six months of age
DE with irritability, spasticity, arrest of motor and mental development,
DE and bouts of temperature elevation without infection. This is followed
DE by myoclonic jerks of arms and legs, oposthotonus, hypertonic fits,
DE and mental regression, which progresses to a severe decerebrate
DE condition with no voluntary movements and death from respiratory
DE infections or cerebral hyperpyrexia before 2 years of age. Cases with
DE later onset present with unexplained blindness, weakness and
DE sensorimotor peripheral neuropathy, mental deterioration and death.
SY Galactosylceramide beta-galactosidase deficiency.
SY GALC deficiency.
SY GCL.
SY Globoid cell leukoencephalopathy.
SY Krabbe disease.
DR MIM; 245200; phenotype.
DR MedGen; C0023521.
DR MeSH; D007965.
KW KW-1026:Leukodystrophy.
//
ID Leukodystrophy, hypomyelinating, 1.
AC DI-00648
AR HLD1.
DE An X-linked recessive disorder of the central nervous system in which
DE myelin is not formed properly. Clinically characterized by nystagmus,
DE spastic quadriplegia, ataxia, and developmental delay.
SY Brain sclerosis diffuse familial.
SY Pelizaeus-Merzbacher brain sclerosis.
SY Pelizaeus-Merzbacher disease.
SY PMD.
SY Sudanophilic leukodystrophy Paelizeus-Merzbacher type.
DR MIM; 312080; phenotype.
DR MedGen; C0205711.
DR MeSH; D020371.
KW KW-1026:Leukodystrophy.
//
ID Leukodystrophy, hypomyelinating, 10.
AC DI-04450
AR HLD10.
DE An autosomal recessive neurologic disorder characterized by postnatal
DE microcephaly, severely delayed psychomotor development,
DE hypomyelination, and reduced cerebral white-matter volume.
DR MIM; 616420; phenotype.
DR MedGen; CN231317.
DR MeSH; D020279.
KW KW-1026:Leukodystrophy.
//
ID Leukodystrophy, hypomyelinating, 11.
AC DI-04497
AR HLD11.
DE An autosomal recessive neurologic disorder characterized by brain
DE hypomyelination, delayed psychomotor development, intellectual
DE disability, tremor and other neurologic symptoms. Some patients may
DE additionally manifest non-neurologic features, particularly dental
DE abnormalities and hypogonadotropic hypogonadism.
SY 4H leukodystrophy 3.
DR MIM; 616494; phenotype.
DR MedGen; CN231734.
DR MeSH; D020279.
KW KW-1026:Leukodystrophy.
//
ID Leukodystrophy, hypomyelinating, 12.
AC DI-04619
AR HLD12.
DE An autosomal recessive neurologic disorder characterized by
DE developmental delay, spasticity, truncal hypotonia, acquired
DE microcephaly, intellectual disability with variable seizure disorder,
DE accompanied by thin corpus callosum, paucity of white matter and
DE delayed myelination.
DR MIM; 616683; phenotype.
DR MedGen; CN234869.
DR MeSH; D020279.
KW KW-1026:Leukodystrophy.
//
ID Leukodystrophy, hypomyelinating, 13.
AC DI-04695
AR HLD13.
DE An autosomal recessive neurodegenerative disorder with infantile
DE onset, affecting mainly the central white matter. Clinical features
DE include early feeding difficulties, global developmental delay,
DE postnatal progressive microcephaly, truncal hypotonia, spasticity, and
DE variable neurologic deficits, such as visual impairment.
DR MIM; 616881; phenotype.
DR MedGen; CN235881.
DR MeSH; D020279.
KW KW-1026:Leukodystrophy.
//
ID Leukodystrophy, hypomyelinating, 14.
AC DI-05211
AR HLD14.
DE An autosomal recessive, severe disorder characterized by atrophy of
DE the basal ganglia and cerebellum, hypomyelination, severe
DE developmental delay, typically without intentional movements and
DE language development, and microcephaly. Almost all patients exhibit
DE spasticity, extrapyramidal movement abnormalities, and severe drug-
DE resistant epilepsy. Disease onset is early in infancy, and most
DE patients die in the first years of life.
DR MIM; 617899; phenotype.
DR MedGen; CN845004.
DR MeSH; D020279.
KW KW-1026:Leukodystrophy.
//
ID Leukodystrophy, hypomyelinating, 15.
AC DI-05239
AR HLD15.
DE An autosomal recessive disorder characterized by hypomyelinating
DE leukodystrophy with thinning of the corpus callosum. Clinical features
DE include motor and cognitive impairment appearing in the first or
DE second decade of life, dystonia, ataxia, spasticity, and dysphagia.
DE Most patients develop severe optic atrophy, and some have hearing
DE loss.
DR MIM; 617951; phenotype.
DR MedGen; CN244566.
DR MeSH; D020279.
KW KW-0523:Neurodegeneration.
KW KW-1026:Leukodystrophy.
//
ID Leukodystrophy, hypomyelinating, 16.
AC DI-05245
AR HLD16.
DE An autosomal dominant disorder characterized by hypomyelination,
DE leukodystrophy, and thin corpus callosum observed on brain imaging.
DE Clinical features include hypotonia, nystagmus, and mildly delayed
DE motor development with onset in infancy, ataxic or broad-based gait,
DE hyperreflexia, intention tremor, dysmetria, and a mild pyramidal
DE syndrome. Some patients have cognitive impairment, whereas others may
DE have normal cognition or mild intellectual disability with speech
DE difficulties.
DR MIM; 617964; phenotype.
DR MedGen; CN244907.
DR MeSH; D020279.
KW KW-1026:Leukodystrophy.
//
ID Leukodystrophy, hypomyelinating, 17.
AC DI-05268
AR HLD17.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE atrophy of cerebral cortex, spinal cord and cerebellum, thin corpus
DE callosum, abnormal signals in the basal ganglia, and features
DE suggesting hypo- or demyelination observed on brain imaging. Clinical
DE manifestations include lack of development, absent speech,
DE microcephaly, spasticity, seizures, and contractures.
DR MIM; 618006; phenotype.
DR MedGen; CN248514.
DR MeSH; D020279.
KW KW-1026:Leukodystrophy.
//
ID Leukodystrophy, hypomyelinating, 18.
AC DI-05549
AR HLD18.
DE An autosomal recessive disorder characterized by hypomyelinating
DE leukodystrophy with progressive atrophy of the corpus callosum,
DE thalami and cerebellum, and peripheral neuropathy. Clinical features
DE include very poor psychomotor development, dystonia, severe
DE spasticity, seizures, and failure to thrive.
DR MIM; 618404; phenotype.
DR MedGen; CN258344.
DR MeSH; D020279.
KW KW-1026:Leukodystrophy.
//
ID Leukodystrophy, hypomyelinating, 19, transient infantile.
AC DI-05713
AR HLD19.
DE An autosomal dominant disorder characterized by marked hypomyelination
DE on brain imaging, congenital nystagmus, and motor delay manifesting in
DE early infancy. Both neurologic impairment and abnormal brain imaging
DE spontaneously resolve during childhood.
DR MIM; 618688; phenotype.
DR MedGen; CN263108.
DR MeSH; D020279.
KW KW-1026:Leukodystrophy.
//
ID Leukodystrophy, hypomyelinating, 2.
AC DI-00649
AR HLD2.
DE An autosomal recessive hypomyelinating leukodystrophy with symptoms of
DE Pelizaeus-Merzbacher disease. Clinically characterized by nystagmus,
DE impaired motor development, ataxia, choreoathetotic movements,
DE dysarthria, and progressive spasticity.
SY Pelizaeus-Merzbacher-like disease autosomal recessive type 1.
SY Pelizaeus-Merzbacher-like disease type 1.
SY PMLD1.
SY PMLDAR1.
DR MIM; 608804; phenotype.
DR MedGen; C1837355.
DR MeSH; D020279.
KW KW-1026:Leukodystrophy.
//
ID Leukodystrophy, hypomyelinating, 20.
AC DI-05951
AR HLD20.
DE An autosomal recessive disorder characterized by neuroregression and
DE loss of motor, language and cognitive skills, after a normal early
DE development. Disease onset is between 12 and 18 month of age. Patients
DE show poor overall growth, microcephaly, feeding difficulties and
DE spastic quadriplegia. Some patients may have seizures. Death in
DE childhood may occur. Hypomyelinating leukodystrophy with subcortical
DE and periventricular white matter abnormalities is seen on brain
DE imaging.
DR MIM; 619071; phenotype.
DR MedGen; CN293420.
DR MeSH; D020279.
KW KW-0523:Neurodegeneration.
KW KW-1026:Leukodystrophy.
//
ID Leukodystrophy, hypomyelinating, 21.
AC DI-06097
AR HLD21.
DE An autosomal recessive neurodegenerative disorder characterized by
DE global developmental delay, loss of motor, speech and cognitive
DE milestones in the first decades of life, and diffuse hypomyelination
DE of the white matter and atrophy of the cerebellum and corpus callosum
DE observed on brain imaging. Clinical features include nystagmus,
DE ataxia, dystonia, and spasticity. Other more variable features are
DE feeding difficulties, poor overall growth with microcephaly, optic
DE atrophy, and seizures.The disorder is progressive and may lead to
DE premature death.
DR MIM; 619310; phenotype.
DR MedGen; CN296583.
DR MeSH; D020279.
KW KW-0523:Neurodegeneration.
KW KW-1026:Leukodystrophy.
//
ID Leukodystrophy, hypomyelinating, 22.
AC DI-06111
AR HLD22.
DE An autosomal dominant disorder characterized by global developmental
DE delay, mildly impaired intellectual development, motor impairment,
DE limb spasticity, dysarthria, and eye abnormalities including
DE hypermetropia. Brain imaging shows hypomyelinating leukodystrophy.
DR MIM; 619328; phenotype.
DR MedGen; CN296799.
DR MeSH; D020279.
KW KW-1026:Leukodystrophy.
//
ID Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy.
AC DI-06305
AR HLD23.
DE An autosomal recessive neurodegenerative disorder with systemic
DE manifestations. Affected individuals show delayed motor development
DE and ataxic gait in early childhood that progresses to spastic
DE paraplegia with loss of ambulation in the first decades of life.
DE Additional features include progressive sensorineural hearing loss,
DE hepatic dysfunction, and dilated cardiomyopathy. Death occurs in the
DE first or second decades. Brain imaging shows hypomyelination, diffuse
DE white matter abnormalities, and thin corpus callosum.
DR MIM; 619688; phenotype.
DR MedGen; CN305777.
DR MeSH; D020279.
KW KW-0122:Cardiomyopathy.
KW KW-0209:Deafness.
KW KW-1026:Leukodystrophy.
//
ID Leukodystrophy, hypomyelinating, 3.
AC DI-03001
AR HLD3.
DE A severe autosomal recessive hypomyelinating leukodystrophy
DE characterized by early infantile onset of global developmental delay,
DE lack of development, lack of speech acquisition, and peripheral
DE spasticity associated with decreased myelination in the central
DE nervous system.
DR MIM; 260600; phenotype.
DR MedGen; C1850053.
DR MeSH; D020279.
KW KW-1026:Leukodystrophy.
//
ID Leukodystrophy, hypomyelinating, 4.
AC DI-00650
AR HLD4.
DE A severe autosomal recessive hypomyelinating leukodystrophy.
DE Clinically characterized by infantile-onset rotary nystagmus,
DE progressive spastic paraplegia, neurologic regression, motor
DE impairment, profound intellectual disability. Death usually occurs
DE within the first two decades of life.
SY MitCHAP60 disease.
SY MitCHAP-60 disease.
SY Mitochondrial HSP60 chaperonopathy.
DR MIM; 612233; phenotype.
DR MedGen; C2677109.
DR MeSH; D020279.
KW KW-1026:Leukodystrophy.
//
ID Leukodystrophy, hypomyelinating, 5.
AC DI-00651
AR HLD5.
DE A hypomyelinating leukodystrophy associated with congenital cataract.
DE It is clinically characterized by congenital cataract, progressive
DE neurologic impairment, and diffuse myelin deficiency. Affected
DE individuals experience progressive pyramidal and cerebellar
DE dysfunction, muscle weakness and wasting prevailingly in the lower
DE limbs. Mental deficiency ranges from mild to moderate. HLD5 shows
DE clinical variability, but features of hypomyelination combined with
DE increased periventricular white matter water content are consistently
DE observed.
SY HCC.
SY Hypomyelination with congenital cataract.
DR MIM; 610532; phenotype.
DR MedGen; C1864663.
DR MedGen; C2674508.
DR MeSH; D020279.
KW KW-0898:Cataract.
KW KW-1026:Leukodystrophy.
//
ID Leukodystrophy, hypomyelinating, 6.
AC DI-03778
AR HLD.
DE A neurologic disorder characterized by onset in infancy or early
DE childhood of delayed motor development and gait instability, followed
DE by extrapyramidal movement disorders, such as dystonia,
DE choreoathetosis, rigidity, opisthotonus, and oculogyric crises,
DE progressive spastic tetraplegia, ataxia, and, more rarely, seizures.
DE Most patients have cognitive decline and speech delay, but some can
DE function normally. Brain MRI shows a combination of hypomyelination,
DE cerebellar atrophy, and atrophy or disappearance of the putamen.
SY HABC.
SY Hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum.
DR MIM; 612438; phenotype.
DR MedGen; C2676244.
DR MeSH; D020279.
KW KW-1026:Leukodystrophy.
//
ID Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism.
AC DI-03248
AR HLD7.
DE An autosomal recessive neurodegenerative disorder characterized by
DE childhood onset of progressive motor decline manifest as spasticity,
DE ataxia, tremor, and cerebellar signs, as well as mild cognitive
DE regression. Other features may include hypodontia or oligodontia and
DE hypogonadotropic hypogonadism. There is considerable inter- and
DE intrafamilial variability.
SY 4H leukodystrophy 1.
SY 4H syndrome.
SY ADDH.
SY Ataxia delayed dentition and hypomyelination.
SY Leukodystrophy hypomyelinating with hypodontia and hypogonadotropic hypogonadism 4H syndrome.
SY Leukodystrophy with oligodontia.
SY Leukoencephalopathy hypomyelinating with ataxia and delayed dentition.
SY TACH.
SY Tremor-ataxia with central hypomyelination.
DR MIM; 607694; phenotype.
DR MedGen; C2676243.
DR MeSH; D020279.
KW KW-1026:Leukodystrophy.
//
ID Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism.
AC DI-03308
AR HLD8.
DE An autosomal recessive neurodegenerative disorder characterized by
DE early childhood onset of cerebellar ataxia and mild intellectual
DE disabilities associated with diffuse hypomyelination apparent on brain
DE MRI. Variable features include oligodontia and/or hypogonadotropic
DE hypogonadism.
SY 4H leukodystrophy 2.
SY Cerebellar hypoplasia with endosteal sclerosis.
DR MIM; 614381; phenotype.
DR MedGen; C3280644.
DR MedGen; CN119427.
DR MeSH; D020279.
KW KW-1026:Leukodystrophy.
//
ID Leukodystrophy, hypomyelinating, 9.
AC DI-04288
AR HLD9.
DE An autosomal recessive neurodegenerative disorder characterized by
DE delayed psychomotor development, severe spasticity, nystagmus, and
DE ataxia associated with diffuse hypomyelination apparent on brain MRI.
DR MIM; 616140; phenotype.
DR MedGen; CN224182.
DR MeSH; D020279.
KW KW-1026:Leukodystrophy.
//
ID Leukodystrophy, progressive, early childhood-onset.
AC DI-05125
AR PLDECO.
DE A form of leukodystrophy, a disorder of myelin production or
DE maintenance affecting the central nervous system. PELCO features
DE include neurological regression between 6 and 13 months of age,
DE truncal hypotonia, appendicular spasticity, dystonia, optic disk
DE pallor, peripheral neuropathy and neurogenic bladder. Brain imaging
DE shows progressive diffuse abnormal white matter signals, cerebral
DE atrophy, and thin corpus callosum. Sural nerve biopsy shows decreased
DE myelination. PLDECO inheritance is autosomal recessive.
DR MIM; 617762; phenotype.
DR MedGen; CN603947.
DR MeSH; D020279.
KW KW-1026:Leukodystrophy.
//
ID Leukoencephalopathy with ataxia.
AC DI-04040
AR LKPAT.
DE An autosomal recessive neurologic disorder with a characteristic
DE pattern of white matter abnormalities on brain MRI. Affected
DE individuals have prominent signal abnormalities and decreased apparent
DE diffusion coefficient values in the posterior limbs of the internal
DE capsules, middle cerebral peduncles, pyramidal tracts in the pons, and
DE middle cerebellar peduncles, suggesting myelin microvacuolation.
DE Clinical features include ataxia and unstable gait. More variable
DE abnormalities may include visual field defects, headaches, and
DE learning disabilities.
DR MIM; 615651; phenotype.
DR MedGen; C3810242.
DR MedGen; CN184653.
DR MeSH; D002524.
DR MeSH; D056784.
//
ID Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation.
AC DI-01899
AR LBSL.
DE Autosomal recessive disease and is defined on the basis of a highly
DE characteristic constellation of abnormalities observed by magnetic
DE resonance imaging and spectroscopy. Affected individuals develop
DE slowly progressive cerebellar ataxia, spasticity, and dorsal column
DE dysfunction, sometimes with a mild cognitive deficit or decline.
DR MIM; 611105; phenotype.
DR MedGen; C1970180.
//
ID Leukoencephalopathy with dystonia and motor neuropathy.
AC DI-02987
AR LKDMN.
DE A syndrome characterized by leukoencephalopathy, dystonic head tremor,
DE spasmodic torticollis and reduced tendon reflexes in lower
DE extremities. Additional features include hyposmia, pathologic saccadic
DE eye movements, a slight hypoacusis, accumulation of branched-chain
DE pristanic acid in plasma, and the presence of abnormal bile alcohol
DE glucuronides in urine.
SY Sterol carrier protein 2 deficiency.
DR MIM; 613724; phenotype.
DR MedGen; C3150990.
DR MeSH; D056784.
//
ID Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate.
AC DI-05532
AR ARLIAK.
DE An autosomal recessive disorder characterized by acute, reversible
DE neurological deterioration during febrile illness. Patients exhibit
DE reversible leukoencephalopathy and increased urinary excretion of
DE alpha-ketoglutarate.
DR MIM; 618384; phenotype.
DR MedGen; CN258281.
DR MeSH; D056784.
//
ID Leukoencephalopathy, cystic, without megalencephaly.
AC DI-02726
AR LCWM.
DE An infantile-onset syndrome of cerebral leukoencephalopathy. Affected
DE newborns develop microcephaly and neurologic abnormalities including
DE psychomotor impairment, seizures and sensorineural hearing impairment.
DE The brain shows multifocal white matter lesions, anterior temporal
DE lobe subcortical cysts, pericystic abnormal myelination,
DE ventriculomegaly and intracranial calcifications.
DR MIM; 612951; phenotype.
DR MedGen; C2751843.
DR MeSH; D056784.
//
ID Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome.
AC DI-05835
AR LEUDEN.
DE An autosomal dominant disorder characterized by global developmental
DE delay apparent in early childhood, cognitive impairment, ataxia, poor
DE or absent speech with dysarthria, hypotonia, hypertonia,
DE extrapyramidal signs, tremor, and abnormal involuntary movements.
DE Affected individuals also exhibit neurological regression in the
DE setting of febrile illness or infection. Many patients have seizures.
DE Brain imaging shows diffuse white matter abnormalities with poor
DE myelination.
SY LEUDEN syndrome.
DR MIM; 618877; phenotype.
DR MedGen; CN280926.
DR MeSH; D056784.
//
ID Leukoencephalopathy, hereditary diffuse, with spheroids 1.
AC DI-03392
AR HDLS1.
DE An autosomal dominant adult-onset rapidly progressive
DE neurodegenerative disorder characterized by variable behavioral,
DE cognitive, and motor changes. Patients often die of dementia within 6
DE years of onset. Brain imaging shows patchy abnormalities in the
DE cerebral white matter, predominantly affecting the frontal and
DE parietal lobes.
SY ALSP.
SY Autosomal dominant leukoencephalopathy with neuroaxonal spheroids.
SY Familial dementia Neumann type.
SY Familial progressive subcortical gliosis.
SY GPSC.
SY HDLS.
SY Leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia.
SY Leukoencephalopathy, diffuse hereditary, with spheroids.
SY Subcortical gliosis of Neumann.
DR MIM; 221820; phenotype.
DR MedGen; C1857300.
DR MedGen; C2673753.
DR MeSH; D005911.
DR MeSH; D056784.
KW KW-0523:Neurodegeneration.
//
ID Leukoencephalopathy, hereditary diffuse, with spheroids 2.
AC DI-06298
AR HDLS2.
DE An autosomal dominant neurodegenerative disorder characterized by
DE progressive cognitive and executive dysfunction, psychiatric
DE disturbances, and neurologic symptoms, such as gait abnormalities,
DE paresis, seizures, and rigidity. Symptom onset is usually in
DE adulthood, although earlier onset has been reported. Some patients
DE have an acute encephalopathic course with severe neurologic decline
DE resulting in early death, whereas other patients have a more
DE protracted and chronic disease course. Neuropathologic examination
DE shows a leukoencephalopathy with axonal spheroids and myelination
DE defects.
SY HDLS-S.
SY Leukoencephalopathy, hereditary diffuse, with spheroids, Swedish type.
SY Swedish type hereditary diffuse leukoencephalopathy with spheroids.
DR MIM; 619661; phenotype.
DR MedGen; CN305734.
DR MeSH; D056784.
KW KW-0523:Neurodegeneration.
//
ID Leukoencephalopathy, megalencephalic, with subcortical cysts, 1.
AC DI-01960
AR MLC1.
DE A syndrome of cerebral leukoencephalopathy and megalencephaly
DE characterized by ataxia, spasticity, seizures, delay in motor
DE development and mild intellectual disability. The brain appears
DE swollen on magnetic resonance imaging, with diffuse white-matter
DE abnormalities and the invariable presence of subcortical cysts in
DE frontal and temporal lobes.
SY Leukoencephalopathy with swelling and cysts.
SY LVM.
SY Vacuolating megalencephalic leukoencephalopathy with subcortical cysts.
SY Van der Knaap disease.
SY VL.
DR MIM; 604004; phenotype.
DR MedGen; C1858854.
DR MeSH; D056784.
//
ID Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A.
AC DI-03113
AR MLC2A.
DE A neurodegenerative disorder characterized by infantile-onset
DE macrocephaly and later onset of motor deterioration, with ataxia and
DE spasticity, seizures, and cognitive decline of variable severity. The
DE brain appears swollen on magnetic resonance imaging with white-matter
DE abnormalities and subcortical cysts, in all stages of the disease.
DR MIM; 613925; phenotype.
DR MedGen; C3151355.
DR MeSH; D056784.
//
ID Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B.
AC DI-03114
AR MLC2B.
DE A neurodegenerative disorder characterized by infantile-onset of
DE macrocephaly and mildly delayed motor development associated with
DE white-matter abnormalities on brain magnetic resonance imaging. The
DE phenotype is milder that MLC2A, with better preserved cerebellar white
DE matter and no subcortical cysts outside the temporal region. On
DE follow-up, patients show normal or almost normal motor function. Some
DE patients have normal intelligence, whereas others have a significant
DE cognitive deficiency.
DR MIM; 613926; phenotype.
DR MedGen; C3151356.
DR MeSH; D056784.
//
ID Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome.
AC DI-05836
AR LEMSPAD.
DE A disorder characterized by delayed motor development, speech delay
DE with dysarthria, hypertonia, progressive spasticity, hyperreflexia,
DE and bradykinesia. Cognition is normal. Patients manifest anxiety and
DE attention deficit-hyperactivity disorder.
DR MIM; 618878; phenotype.
DR MedGen; CN280927.
DR MeSH; D056784.
//
ID Leukoencephalopathy, progressive, infantile-onset, with or without deafness.
AC DI-06031
AR LEPID.
DE An autosomal recessive, complex neurodegenerative disorder apparent
DE from infancy. LEPID is characterized by early-onset progressive
DE leukoencephalopathy with brainstem and spinal cord calcifications,
DE sensorineural deafness in most patients, global developmental delay
DE with cognitive impairment and poor or absent speech, developmental
DE regression, and neurologic deterioration. Additional more variable
DE features may include poor overall growth with microcephaly, seizures,
DE visual loss, microcytic anemia, and hepatic enlargement or abnormal
DE liver enzymes. Premature death is common.
DR MIM; 619147; phenotype.
DR MedGen; CN295784.
DR MeSH; D056784.
KW KW-0209:Deafness.
KW KW-0523:Neurodegeneration.
KW KW-0991:Intellectual disability.
//
ID Leukoencephalopathy, progressive, with ovarian failure.
AC DI-04191
AR LKENP.
DE An autosomal recessive neurodegenerative disorder characterized by
DE childhood- to adulthood-onset of signs of neurologic deterioration
DE consisting of ataxia, spasticity, and cognitive decline with features
DE of frontal lobe dysfunction. Brain MRI shows leukoencephalopathy with
DE striking involvement of deep white matter, and cerebellar atrophy. All
DE female patients develop premature ovarian failure.
DR MIM; 615889; phenotype.
DR MedGen; CN197313.
DR MeSH; D016649.
DR MeSH; D056784.
KW KW-0523:Neurodegeneration.
KW KW-1066:Premature ovarian failure.
//
ID Lhermitte-Duclos disease.
AC DI-01903
AR LDD.
DE A rare disease characterized by the occurrence of a slowly enlarging
DE mass within the cerebellar cortex corresponding histologically to a
DE cerebellar hamartoma. It manifests, most commonly in the third and
DE fourth decades of life, with increased intracranial pressure,
DE headache, nausea, cerebellar dysfunction, occlusive hydrocephalus,
DE ataxia, visual disturbances and other cranial nerve palsies. Various
DE associated abnormalities may be present such as megalencephaly,
DE microgyria, hydromyelia, polydactyly, partial gigantism, macroglossia.
DE LDD is part of the PTEN hamartoma tumor syndromes spectrum that also
DE includes Cowden syndrome.
SY Cerebellar granule cell hypertrophy and megalencephaly.
SY Cerebelloparenchymal disorder VI.
SY CPD6.
SY Dysplastic gangliocytoma of the cerebellum.
SY PHTS.
SY PTEN hamartoma tumor syndrome.
DR MIM; 158350; phenotype.
DR MedGen; C0391826.
DR MedGen; C1834711.
DR MedGen; C1834712.
DR MeSH; D006223.
//
ID Li-Campeau syndrome.
AC DI-06051
AR LICAS.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE global developmental delay, intellectual disability, epilepsy, ptosis,
DE hypothyroidism, and variable cardiac and genital anomalies. Additional
DE features may include seizures, short stature, hypotonia, and brain
DE imaging anomalies, such as cortical atrophy.
DR MIM; 619189; phenotype.
DR MedGen; CN295289.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Li-Fraumeni syndrome.
AC DI-01904
AR LFS.
DE An autosomal dominant familial cancer syndrome that in its classic
DE form is defined by the existence of a proband affected by a sarcoma
DE before 45 years with a first degree relative affected by any tumor
DE before 45 years and another first degree relative with any tumor
DE before 45 years or a sarcoma at any age. Other clinical definitions
DE for LFS have been proposed and called Li-Fraumeni like syndrome (LFL).
DE In these families affected relatives develop a diverse set of
DE malignancies at unusually early ages. Four types of cancers account
DE for 80% of tumors occurring in TP53 germline mutation carriers: breast
DE cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas)
DE and adrenocortical carcinomas. Less frequent tumors include choroid
DE plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma
DE before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor,
DE colorectal and gastric cancers.
SY LFL.
SY Sarcoma family syndrome of Li and Fraumeni.
SY SBLA syndrome Li-Fraumeni-like syndrome.
DR MIM; 151623; phenotype.
DR MedGen; C0085390.
DR MedGen; C1835398.
DR MedGen; C2675080.
DR MeSH; D016864.
//
ID Li-Fraumeni syndrome 2.
AC DI-02882
AR LFS2.
DE A highly penetrant familial cancer syndrome that in its classic form
DE is defined by the existence of a proband affected by a sarcoma before
DE 45 years with a first degree relative affected by any tumor before 45
DE years and another first degree relative with any tumor before 45 years
DE or a sarcoma at any age. Other clinical definitions for LFS have been
DE proposed (PubMed:8118819 and PubMed:8718514) and called Li-Fraumeni
DE like syndrome (LFL). In these families affected relatives develop a
DE diverse set of malignancies at unusually early ages. Four types of
DE cancers account for 80% of tumors occurring in TP53 germline mutation
DE carriers: breast cancers, soft tissue and bone sarcomas, brain tumors
DE (astrocytomas) and adrenocortical carcinomas. Less frequent tumors
DE include choroid plexus carcinoma or papilloma before the age of 15,
DE rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant
DE phyllodes tumor, colorectal and gastric cancers.
DR MIM; 609265; phenotype.
DR MedGen; C1836482.
//
ID Li-Ghorbani-Weisz-Hubshman syndrome.
AC DI-05894
AR LIGOWS.
DE An autosomal dominant disorder characterized by global developmental
DE delay, mild to moderate intellectual disability, speech and language
DE impairment, and variable facial dysmorphism. Some patients have
DE seizures and autistic features. Brain imaging abnormalities are
DE observed in some patients and include decreased white matter volume,
DE enlarged ventricles, thin corpus callosum, and gray matter nodular
DE heterotopia.
DR MIM; 618974; phenotype.
DR MedGen; CN283319.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Liang-Wang syndrome.
AC DI-05730
AR LIWAS.
DE An autosomal dominant syndrome characterized by a highly variable
DE phenotype and severity. The broad spectrum of clinical features
DE includes developmental delay, intellectual disability, ataxia, axial
DE hypotonia, and poor or absent speech, visceral and cardiac
DE malformations, connective tissue presentations with arterial
DE involvement, bone dysplasia and characteristic craniofacial
DE dysmorphism. About half of patients have cerebral and cerebellar
DE atrophy, and thin corpus callosum.
DR MIM; 618729; phenotype.
DR MedGen; CN263138.
DR MeSH; D000015.
//
ID Liberfarb syndrome.
AC DI-05845
AR LIBF.
DE An autosomal recessive multisystem disorder affecting the eye, ear,
DE bone, and brain development. Clinical features include early-onset
DE retinal degeneration, congenital cataracts, sensorineural hearing
DE loss, microcephaly, intellectual disability, white matter changes,
DE mild facial dysmorphism, and skeletal dysplasia with platyspondyly,
DE scoliosis and short stature.
SY SEMDLIBF.
SY Spondyloepimetaphyseal dysplasia, Liberfarb type.
DR MIM; 618889; phenotype.
DR MedGen; CN281158.
DR MeSH; D000015.
DR MeSH; D010009.
KW KW-0209:Deafness.
KW KW-0242:Dwarfism.
KW KW-0898:Cataract.
KW KW-0991:Intellectual disability.
//
ID Lichtenstein-Knorr syndrome.
AC DI-04382
AR LIKNS.
DE An autosomal recessive neurologic disorder characterized by
DE progressive cerebellar ataxia and severe progressive sensorineural
DE hearing loss.
SY SCAR19.
SY Spinocerebellar ataxia, autosomal recessive, 19.
DR MIM; 616291; phenotype.
DR MedGen; CN229337.
DR MeSH; D002524.
DR MeSH; D006319.
KW KW-0209:Deafness.
KW KW-0523:Neurodegeneration.
//
ID Liddle syndrome 1.
AC DI-01905
AR LIDLS1.
DE A form of Liddle syndrome, an autosomal dominant disorder
DE characterized by early onset of hypertension, hypokalemic alkalosis,
DE and suppression of plasma renin activity and aldosterone secretion.
SY Liddle syndrome.
SY LIDLS.
SY Pseudoaldosteronism.
SY Pseudohyperaldosteronism.
DR MIM; 177200; phenotype.
DR MedGen; C0221043.
DR MeSH; D056929.
//
ID Liddle syndrome 2.
AC DI-05331
AR LIDLS2.
DE A form of Liddle syndrome, an autosomal dominant disorder
DE characterized by early onset of hypertension, hypokalemic alkalosis,
DE and suppression of plasma renin activity and aldosterone secretion.
DR MIM; 618114; phenotype.
DR MedGen; CN253832.
DR MeSH; D056929.
//
ID Liddle syndrome 3.
AC DI-05332
AR LIDLS3.
DE A form of Liddle syndrome, an autosomal dominant disorder
DE characterized by early onset of hypertension, hypokalemic alkalosis,
DE and suppression of plasma renin activity and aldosterone secretion.
DR MIM; 618126; phenotype.
DR MedGen; CN253837.
DR MeSH; D056929.
//
ID Liebenberg syndrome.
AC DI-03623
AR LBNBG.
DE An upper limb-malformation syndrome characterized by the combination
DE of dysplastic elbow joints and the fusion of wrist bones with
DE consequent radial deviation.
SY Brachydactyly with joint dysplasia.
SY Carpal synostosis with dysplastic elbow joints and brachydactyly.
DR MIM; 186550; phenotype.
DR MedGen; C1861313.
DR MeSH; D006228.
DR MeSH; D013580.
DR MeSH; D059327.
//
ID LIG4 syndrome.
AC DI-01906
AR LIG4S.
DE Characterized by immunodeficiency and developmental and growth delay.
DE Patients display unusual facial features, microcephaly, growth and/or
DE developmental delay, pancytopenia, and various skin abnormalities.
DR MIM; 606593; phenotype.
DR MedGen; C1847827.
//
ID Limb pelvis hypoplasia aplasia syndrome.
AC DI-01908
AR LPHAS.
DE A syndrome of severe deficiency of the extremities due to hypo- or
DE aplasia of one or more long bones of one or more limbs. Pelvic
DE manifestations include hip dislocation, hypoplastic iliac bone and
DE aplastic pubic bones. Thoracic deformity, unusual facies and
DE genitourinary anomalies can be present.
SY AARRS.
SY Absence of ulna and fibula with severe limb deficiency.
SY Al-Awadi/Raas-Rothschild syndrome.
SY Limb/pelvis/uterus-hypoplasia/aplasia syndrome.
SY Limb/pelvis-hypoplasia/aplasia syndrome.
SY Schinzel phocomelia syndrome.
DR MIM; 276820; phenotype.
DR MedGen; C1848651.
DR MeSH; D004480.
//
ID Limb-mammary syndrome.
AC DI-01907
AR LMS.
DE Characterized by ectrodactyly, cleft palate and mammary-gland
DE abnormalities.
DR MIM; 603543; phenotype.
DR MedGen; C1863753.
//
ID Linear skin defects with multiple congenital anomalies 1.
AC DI-00765
AR LSDMCA1.
DE A disorder characterized by dermal, ocular, neurological and cardiac
DE abnormalities. LSDMCA1 main features are unilateral or bilateral
DE microphthalmia, linear skin defects in affected females, and in utero
DE lethality for males. Skin defects are limited to the face and neck,
DE consisting of areas of aplastic skin that heal with age to form
DE hyperpigmented areas. Additional features in female patients include
DE agenesis of the corpus callosum, sclerocornea, chorioretinal
DE abnormalities, infantile seizures, congenital heart defect,
DE intellectual disability, and diaphragmatic hernia. Microphthalmia is a
DE disorder of eye formation, ranging from small size of a single eye to
DE complete bilateral absence of ocular tissues (anophthalmia). In many
DE cases, microphthalmia/anophthalmia occurs in association with
DE syndromes that include non-ocular abnormalities.
SY MCOPS7.
SY Microphthalmia, dermal aplasia and sclerocornea.
SY Microphthalmia, syndromic, 7.
SY Microphthalmia with linear skin defects.
SY MIDAS syndrome.
SY MLS.
DR MIM; 309801; phenotype.
DR MedGen; C0796070.
DR MeSH; D008850.
DR MeSH; D012868.
KW KW-1013:Microphthalmia.
//
ID Linear skin defects with multiple congenital anomalies 2.
AC DI-03628
AR LSDMCA2.
DE A distinct form of aplasia cutis congenita presenting as multiple
DE linear skin defects on the face and neck associated with poor growth,
DE microcephaly, and facial dysmorphism. Additional features include
DE intellectual disability, nail dystrophy, short stature and cardiac
DE abnormalities.
SY Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies.
SY APLCC.
DR MIM; 300887; phenotype.
DR MedGen; C3550921.
DR MedGen; CN163066.
DR MeSH; D000015.
//
ID Linear skin defects with multiple congenital anomalies 3.
AC DI-04409
AR LSDMCA3.
DE A disorder characterized by dermal, ocular, neurological and cardiac
DE abnormalities. LSDMCA3 clinical features include linear skin defects
DE on face and neck at birth, lacrimal duct atresia, myopia, nystagmus,
DE strabismus, cardiomyopathy, axial hypotonia, seizures, corpus callosum
DE agenesis, and dilation of lateral ventricles.
SY Linear skin defects with cardiomyopathy and other congenital anomalies.
DR MIM; 300952; phenotype.
DR MedGen; CN230316.
DR MeSH; D005124.
DR MeSH; D012868.
KW KW-0122:Cardiomyopathy.
//
ID Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency.
AC DI-04783
AR LSMFLAD.
DE An autosomal recessive, inborn error of metabolism characterized by
DE variable mitochondrial dysfunction. Clinical features range from
DE severe cardiac and respiratory insufficiency with onset in infancy and
DE resulting in early death, to mild muscle weakness with onset in
DE adulthood. Some patients show significant improvement with riboflavin
DE treatment. Analysis of skeletal muscle show multiple mitochondrial
DE respiratory chain deficiency and a lipid storage myopathy in most
DE patients.
SY Lipid storage myopathy due to FLAD1 deficiency.
DR MIM; 255100; phenotype.
DR MedGen; CN032199.
DR MeSH; D009136.
//
ID Lipodystrophy, familial partial, 2.
AC DI-01595
AR FPLD2.
DE A disorder characterized by the loss of subcutaneous adipose tissue in
DE the lower parts of the body (limbs, buttocks, trunk). It is
DE accompanied by an accumulation of adipose tissue in the face and neck
DE causing a double chin, fat neck, or cushingoid appearance. Adipose
DE tissue may also accumulate in the axillae, back, labia majora, and
DE intraabdominal region. Affected patients are insulin-resistant and may
DE develop glucose intolerance and diabetes mellitus after age 20 years,
DE hypertriglyceridemia, and low levels of high density lipoprotein
DE cholesterol.
SY Familial partial lipodystrophy Dunnigan type.
SY FPL2.
SY Generalized lipoatrophy associated with diabetes, hepatic steatosis, hypertrophic cardiomyopathy and leukomelanodermic papules.
SY Lipoatrophic diabetes.
SY Lipodystrophy familial of limbs and lower trunk.
SY Lipodystrophy reverse partial.
DR MIM; 151660; phenotype.
DR MedGen; C1720860.
DR MeSH; D052496.
//
ID Lipodystrophy, familial partial, 3.
AC DI-01596
AR FPLD3.
DE A form of lipodystrophy characterized by marked loss of subcutaneous
DE fat from the extremities. Facial adipose tissue may be increased,
DE decreased or normal. Affected individuals show an increased
DE preponderance of insulin resistance, diabetes mellitus and
DE dyslipidemia.
SY Familial partial lipodystrophy associated with PPARG mutations.
DR MIM; 604367; phenotype.
DR MedGen; C1720861.
DR MeSH; D052496.
//
ID Lipodystrophy, familial partial, 4.
AC DI-03072
AR FPLD4.
DE A form of lipodystrophy characterized by loss of subcutaneous adipose
DE tissue primarily affecting the lower limbs, insulin-resistant diabetes
DE mellitus, hypertriglyceridemia, and hypertension.
SY Familial partial lipodystrophy associated with PLIN1 mutations.
DR MIM; 613877; phenotype.
DR MedGen; C3151268.
DR MeSH; D052496.
//
ID Lipodystrophy, familial partial, 5.
AC DI-03748
AR FPLD5.
DE A form of lipodystrophy characterized by loss of subcutaneous adipose
DE tissue affecting limb, femorogluteal and subcutaneous abdominal fat,
DE preservation of visceral, neck and axilliary fat, hepatomegaly,
DE hepatic steatosis and insulin-resistant diabetes.
SY Familial partial lipodystrophy associated with CIDEC mutations.
DR MIM; 615238; phenotype.
DR MedGen; C3808940.
DR MedGen; CN169867.
DR MeSH; D052496.
//
ID Lipodystrophy, familial partial, 6.
AC DI-04219
AR FPLD6.
DE A form of lipodystrophy characterized by abnormal subcutaneous fat
DE distribution. Affected individuals have increased visceral fat,
DE impaired lipolysis, dyslipidemia, hepatic steatosis, systemic insulin
DE resistance, and diabetes. Some patients manifest muscular dystrophy.
DR MIM; 615980; phenotype.
DR MedGen; CN219208.
DR MeSH; D024821.
KW KW-0219:Diabetes mellitus.
KW KW-0550:Obesity.
//
ID Lipodystrophy, familial partial, 7.
AC DI-04108
AR FPLD7.
DE A form of partial lipodystrophy, a disorder characterized by abnormal
DE subcutaneous fat distribution. Affected individuals manifest a gradual
DE loss of subcutaneous adipose tissue in various parts of the body,
DE accompanied by an accumulation of adipose tissue in the face and neck
DE in some cases causing a double chin, fat neck, or cushingoid
DE appearance. FPLD7 is an autosomal dominant form with a variable
DE phenotype. Some patients manifest congenital cataracts and
DE neurodegeneration leading to cerebellar and spinal cord dysfunction.
SY LCCNS.
SY Lipodystrophy, partial, with congenital cataracts and neurodegeneration.
SY Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome.
DR MIM; 606721; phenotype.
DR MedGen; C1847582.
DR MeSH; D052496.
//
ID Lipoid proteinosis.
AC DI-01909
AR LiP.
DE Rare autosomal recessive disorder characterized by generalized
DE thickening of skin, mucosae and certain viscera. Classical features
DE include beaded eyelid papules and laryngeal infiltration leading to
DE hoarseness. Histologically, there is widespread deposition of hyaline
DE material and disruption/reduplication of basement membrane.
SY Hyalinosis cutis et mucosae.
SY Lipoid proteinosis of Urbach and Wiethe.
DR MIM; 247100; phenotype.
DR MedGen; C0023795.
//
ID Lipoprotein glomerulopathy.
AC DI-01910
AR LPG.
DE Uncommon kidney disease characterized by proteinuria, progressive
DE kidney failure, and distinctive lipoprotein thrombi in glomerular
DE capillaries.
DR MIM; 611771; phenotype.
DR MedGen; C2673196.
//
ID Lipoyltransferase 1 deficiency.
AC DI-04388
AR LIPT1D.
DE A disorder due to a defect in lipoic acid metabolism, resulting in
DE severe lactic acidosis and metabolic decompensation. Variable clinical
DE manifestations include delayed psychomotor development, severe
DE hypotonia, dystonia, loss of head control, coma, bradycardia, and
DE pulmonary hypertension.
DR MIM; 616299; phenotype.
DR MedGen; CN230008.
DR MeSH; D008661.
//
ID Lissencephaly 1.
AC DI-00670
AR LIS1.
DE A classical lissencephaly. It is characterized by agyria or pachygyria
DE and disorganization of the clear neuronal lamination of normal six-
DE layered cortex. The cortex is abnormally thick and poorly organized
DE with 4 primitive layers. Associated with enlarged and dysmorphic
DE ventricles and often hypoplasia of the corpus callosum.
SY Classic lissencephaly.
SY Lissencephaly-1.
DR MIM; 607432; phenotype.
DR MedGen; C0431375.
DR MedGen; C1843916.
DR MeSH; D054082.
KW KW-0451:Lissencephaly.
//
ID Lissencephaly 10.
AC DI-05832
AR LIS10.
DE A form of lissencephaly, a disorder of cortical development
DE characterized by agyria or pachygyria and disorganization of the clear
DE neuronal lamination of normal six-layered cortex. LIS10 is an
DE autosomal dominant form clinically characterized by variably delayed
DE development, mildly to moderately impaired intellectual development,
DE language delay, and seizures. Some patients have normal early
DE development and borderline to mild cognitive impairment.
DR MIM; 618873; phenotype.
DR MedGen; CN280891.
DR MeSH; D054082.
KW KW-0451:Lissencephaly.
//
ID Lissencephaly 2.
AC DI-00671
AR LIS2.
DE A classic type lissencephaly associated with ataxia, intellectual
DE disability, seizures and abnormalities of the cerebellum, hippocampus
DE and brainstem.
SY LCH.
SY Lissencephaly syndrome Norman-Roberts type.
SY Lissencephaly with cerebellar hypoplasia.
SY Norman-Roberts syndrome.
DR MIM; 257320; phenotype.
DR MedGen; C0796089.
DR MedGen; CN187053.
DR MeSH; D054082.
KW KW-0451:Lissencephaly.
//
ID Lissencephaly 3.
AC DI-00672
AR LIS3.
DE A classic type lissencephaly associated with psychomotor retardation
DE and seizures. Features include agyria or pachygyria or laminar
DE heterotopia, severe intellectual disability, motor delay, variable
DE presence of seizures, and abnormalities of corpus callosum,
DE hippocampus, cerebellar vermis and brainstem.
DR MIM; 611603; phenotype.
DR MedGen; C1969029.
DR MeSH; D054082.
KW KW-0451:Lissencephaly.
//
ID Lissencephaly 4.
AC DI-03160
AR LIS4.
DE A neurodevelopmental disorder characterized by lissencephaly, severe
DE brain atrophy, extreme microcephaly, and profound intellectual
DE disability.
SY Lissencephaly 4 with microcephaly.
SY Microlissencephaly.
DR MIM; 614019; phenotype.
DR MedGen; C3151461.
DR MeSH; D054082.
KW KW-0451:Lissencephaly.
//
ID Lissencephaly 5.
AC DI-03744
AR LIS5.
DE An autosomal recessive brain malformation characterized by cobblestone
DE changes in the cortex, more severe in the posterior region, and
DE subcortical band heterotopia. Affected individuals have hydrocephalus,
DE seizures, and severely delayed psychomotor development.
DR MIM; 615191; phenotype.
DR MedGen; C3554657.
DR MedGen; CN169267.
DR MeSH; D054082.
KW KW-0451:Lissencephaly.
//
ID Lissencephaly 6, with microcephaly.
AC DI-04334
AR LIS6.
DE A form of lissencephaly, a disorder of cortical development
DE characterized by agyria or pachygyria and disorganization of the clear
DE neuronal lamination of normal six-layered cortex. LIS6 features
DE include hypoplasia of the corpus callosum, severe microcephaly and
DE developmental delay.
DR MIM; 616212; phenotype.
DR MedGen; CN225703.
DR MeSH; D054082.
KW KW-0451:Lissencephaly.
//
ID Lissencephaly 7, with cerebellar hypoplasia.
AC DI-04422
AR LIS7.
DE A form of lissencephaly, a disorder of cortical development
DE characterized by agyria or pachygyria and disorganization of the clear
DE neuronal lamination of normal six-layered cortex. LIS7 patients
DE manifest lack of psychomotor development, facial dysmorphism,
DE arthrogryposis, and early-onset intractable seizures resulting in
DE death in infancy.
DR MIM; 616342; phenotype.
DR MedGen; CN230161.
DR MeSH; D054082.
KW KW-0451:Lissencephaly.
//
ID Lissencephaly 8.
AC DI-04891
AR LIS8.
DE A form of lissencephaly, a disorder of cortical development
DE characterized by agyria or pachygyria and disorganization of the clear
DE neuronal lamination of normal six-layered cortex. LIS8 patients
DE manifest delayed psychomotor development, intellectual disability with
DE poor or absent speech, early-onset refractory seizures, hypotonia,
DE cortical gyral abnormalities, and hypoplasia of the corpus callosum,
DE brainstem and cerebellum. LIS8 inheritance is autosomal recessive.
DR MIM; 617255; phenotype.
DR MedGen; CN239574.
DR MeSH; D054082.
KW KW-0451:Lissencephaly.
//
ID Lissencephaly 9 with complex brainstem malformation.
AC DI-05481
AR LIS9.
DE A form of lissencephaly, a disorder of cortical development
DE characterized by agyria or pachygyria and disorganization of the clear
DE neuronal lamination of normal six-layered cortex. LIS9 is an autosomal
DE dominant form clinically characterized by global developmental delay
DE apparent since infancy, impaired intellectual development with poor or
DE absent speech, and sometimes abnormal or involuntary movements. Brain
DE imaging shows malformation of the brainstem, in addition to pachygyria
DE and lissencephaly.
DR MIM; 618325; phenotype.
DR MedGen; CN258209.
DR MeSH; D054082.
KW KW-0451:Lissencephaly.
//
ID Lissencephaly, X-linked 1.
AC DI-00673
AR LISX1.
DE A classic lissencephaly characterized by intellectual disability and
DE seizures that are more severe in male patients. Affected boys show an
DE abnormally thick cortex with absent or severely reduced gyri. Clinical
DE manifestations include feeding problems, abnormal muscular tone,
DE seizures and severe to profound psychomotor retardation. Female
DE patients display a less severe phenotype referred to as
DE 'doublecortex'.
SY XLIS.
DR MIM; 300067; phenotype.
DR MedGen; C1848199.
DR MeSH; D054082.
KW KW-0451:Lissencephaly.
//
ID Lissencephaly, X-linked 2.
AC DI-00674
AR LISX2.
DE A classic type lissencephaly associated with abnormal genitalia.
DE Patients have severe congenital or postnatal microcephaly,
DE lissencephaly, agenesis of the corpus callosum, neonatal-onset
DE intractable epilepsy, poor temperature regulation, chronic diarrhea,
DE and ambiguous or underdeveloped genitalia.
SY Lissencephaly X-linked with ambiguous genitalia.
SY XLAG.
SY XLISG.
DR MIM; 300215; phenotype.
DR MedGen; C1846171.
DR MedGen; C1846172.
DR MeSH; D054082.
KW KW-0451:Lissencephaly.
//
ID Liver failure, infantile, transient.
AC DI-02634
AR LFIT.
DE A transient disorder of hepatic function characterized by elevated
DE liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia,
DE increased serum lactate. Patients who survive the initial acute
DE episode can recover, show normal development and have no recurrence.
SY Acute infantile liver failure.
SY Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect.
DR MIM; 613070; phenotype.
DR MedGen; C2751567.
DR MedGen; C3278664.
DR MeSH; D017093.
//
ID Loeys-Dietz syndrome 1.
AC DI-00675
AR LDS1.
DE An aortic aneurysm syndrome with widespread systemic involvement,
DE characterized by arterial tortuosity and aneurysms, hypertelorism, and
DE bifid uvula or cleft palate. Physical findings include prominent joint
DE laxity, easy bruising, wide and atrophic scars, velvety and
DE translucent skin with easily visible veins, spontaneous rupture of the
DE spleen or bowel, and catastrophic complications of pregnancy,
DE including rupture of the gravid uterus and the arteries, either during
DE pregnancy or in the immediate postpartum period. Some patients have
DE craniosynostosis, exotropy, micrognathia and retrognathia, structural
DE brain abnormalities, and intellectual deficit.
SY AAT5.
SY Familial thoracic aortic aneurysm 5.
SY Furlong syndrome.
SY LDAS.
SY Loeys-Dietz aortic aneurysm syndrome.
SY Marfanoid disorder-craniosynostosis syndrome.
DR MIM; 609192; phenotype.
DR MedGen; C1836635.
DR MedGen; C2697933.
DR MedGen; C2931764.
DR MeSH; D055947.
KW KW-0989:Craniosynostosis.
KW KW-0993:Aortic aneurysm.
//
ID Loeys-Dietz syndrome 2.
AC DI-00677
AR LDS2.
DE An aortic aneurysm syndrome with widespread systemic involvement,
DE characterized by arterial tortuosity and aneurysms, hypertelorism, and
DE bifid uvula or cleft palate. Physical findings include prominent joint
DE laxity, easy bruising, wide and atrophic scars, velvety and
DE translucent skin with easily visible veins, spontaneous rupture of the
DE spleen or bowel, and catastrophic complications of pregnancy,
DE including rupture of the gravid uterus and the arteries, either during
DE pregnancy or in the immediate postpartum period. Some patients have
DE craniosynostosis, exotropy, micrognathia and retrognathia, structural
DE brain abnormalities, and intellectual deficit.
SY AAT3.
SY Familial aortic aneurysm thoracic type 3.
SY Marfan syndrome type 2.
SY MFS2.
SY TAAD2.
SY Thoracic aortic aneurysms and dissection 2.
DR MIM; 610168; phenotype.
DR MedGen; C2674876.
DR MeSH; D055947.
KW KW-0989:Craniosynostosis.
KW KW-0993:Aortic aneurysm.
//
ID Loeys-Dietz syndrome 3.
AC DI-03064
AR LDS3.
DE An aortic aneurysm syndrome with widespread systemic involvement. The
DE disorder is characterized by the triad of arterial tortuosity and
DE aneurysms, hypertelorism, and bifid uvula or cleft palate. Patients
DE with LDS3 also manifest early-onset osteoarthritis. They lack
DE craniosynostosis and intellectual disability.
SY Aneurysms-osteoarthritis syndrome.
SY AOS.
SY LDS1C.
SY Loeys-Dietz syndrome 1C.
SY Loeys-Dietz syndrome with osteoarthritis.
DR MIM; 613795; phenotype.
DR MedGen; C3151087.
DR MeSH; D055947.
KW KW-0993:Aortic aneurysm.
//
ID Loeys-Dietz syndrome 4.
AC DI-03523
AR LDS4.
DE An aortic aneurysm syndrome with widespread systemic involvement. LDS4
DE is characterized by arterial tortuosity, aortic dissection,
DE intracranial aneurysm and subarachnoid hemorrhage, hypertelorism,
DE bifid uvula, pectus deformity, bicuspid aortic valve, arachnodactyly,
DE scoliosis, foot deformities, dural ectasia, joint hyperflexibility,
DE and thin skin with easy bruising and striae.
SY Aortic and cerebral aneurysm with arterial tortuosity and skeletal manifestations.
DR MIM; 614816; phenotype.
DR MedGen; C3553762.
DR MedGen; CN143719.
DR MeSH; D055947.
KW KW-0993:Aortic aneurysm.
//
ID Loeys-Dietz syndrome 5.
AC DI-03991
AR LDS5.
DE A form of Loeys-Dietz syndrome, a syndrome with widespread systemic
DE involvement characterized by arterial tortuosity and aneurysms,
DE hypertelorism, and bifid uvula or cleft palate. LDS5 additional
DE variable features include mitral valve disease, skeletal overgrowth,
DE cervical spine instability, and clubfoot deformity. LDS5 patients do
DE not manifest remarkable aortic or arterial tortuosity, and there is no
DE strong evidence for early aortic dissection.
SY Rienhoff syndrome.
SY RNHF.
DR MIM; 615582; phenotype.
DR MedGen; C3810012.
DR MeSH; D055947.
//
ID Loeys-Dietz syndrome 6.
AC DI-06280
AR LDS6.
DE A form of Loeys-Dietz syndrome, a syndrome with widespread systemic
DE involvement characterized by arterial tortuosity and aneurysms,
DE hypertelorism, and bifid uvula or cleft palate. Most LDS6 patients
DE have thoracic aortic aneurysm involving the ascending aorta and/or
DE aortic root, but cerebral and iliac arteries can be affected, and
DE abdominal aortic aneurysm has been observed. Arterial tortuosity
DE involving cerebral vessels, the aorta, and/or iliac arteries has also
DE been reported. LDS6 inheritance is autosomal dominant.
DR MIM; 619656; phenotype.
DR MedGen; CN305191.
DR MeSH; D055947.
//
ID Long QT syndrome 1.
AC DI-00679
AR LQT1.
DE A heart disorder characterized by a prolonged QT interval on the ECG
DE and polymorphic ventricular arrhythmias. They cause syncope and sudden
DE death in response to exercise or emotional stress, and can present
DE with a sentinel event of sudden cardiac death in infancy.
SY Romano-Ward syndrome.
SY RWS.
SY Ward-Romano syndrome.
DR MIM; 192500; phenotype.
DR MedGen; C0035828.
DR MedGen; C1843738.
DR MedGen; CN177655.
DR MeSH; D029597.
KW KW-0454:Long QT syndrome.
//
ID Long QT syndrome 10.
AC DI-00687
AR LQT10.
DE A heart disorder characterized by a prolonged QT interval on the ECG
DE and polymorphic ventricular arrhythmias. They cause syncope and sudden
DE death in response to exercise or emotional stress, and can present
DE with a sentinel event of sudden cardiac death in infancy.
DR MIM; 611819; phenotype.
DR MedGen; C2678484.
DR MeSH; D008133.
KW KW-0454:Long QT syndrome.
//
ID Long QT syndrome 11.
AC DI-00688
AR LQT11.
DE A heart disorder characterized by a prolonged QT interval on the ECG
DE and polymorphic ventricular arrhythmias. They cause syncope and sudden
DE death in response to exercise or emotional stress, and can present
DE with a sentinel event of sudden cardiac death in infancy.
DR MIM; 611820; phenotype.
DR MedGen; C2678483.
DR MeSH; D008133.
KW KW-0454:Long QT syndrome.
//
ID Long QT syndrome 12.
AC DI-02487
AR LQT12.
DE A heart disorder characterized by a prolonged QT interval on the ECG
DE and polymorphic ventricular arrhythmias. They cause syncope and sudden
DE death in response to exercise or emotional stress, and can present
DE with a sentinel event of sudden cardiac death in infancy.
DR MIM; 612955; phenotype.
DR MedGen; C2751830.
DR MeSH; D008133.
KW KW-0454:Long QT syndrome.
//
ID Long QT syndrome 13.
AC DI-02771
AR LQT13.
DE A heart disorder characterized by a prolonged QT interval on the ECG
DE and polymorphic ventricular arrhythmias. They cause syncope and sudden
DE death in response to exercise or emotional stress, and can present
DE with a sentinel event of sudden cardiac death in infancy.
DR MIM; 613485; phenotype.
DR MedGen; C3150733.
DR MeSH; D008133.
KW KW-0454:Long QT syndrome.
//
ID Long QT syndrome 14.
AC DI-04329
AR LQT14.
DE A form of long QT syndrome, a heart disorder characterized by a
DE prolonged QT interval on the ECG and polymorphic ventricular
DE arrhythmias. They cause syncope and sudden death in response to
DE exercise or emotional stress, and can present with a sentinel event of
DE sudden cardiac death in infancy.
DR MIM; 616247; phenotype.
DR MedGen; CN228133.
DR MeSH; D008133.
KW KW-0454:Long QT syndrome.
//
ID Long QT syndrome 15.
AC DI-04328
AR LQT15.
DE A form of long QT syndrome, a heart disorder characterized by a
DE prolonged QT interval on the ECG and polymorphic ventricular
DE arrhythmias. They cause syncope and sudden death in response to
DE exercise or emotional stress, and can present with a sentinel event of
DE sudden cardiac death in infancy.
DR MIM; 616249; phenotype.
DR MedGen; CN228134.
DR MeSH; D008133.
KW KW-0454:Long QT syndrome.
//
ID Long QT syndrome 16.
AC DI-05766
AR LQT16.
DE An autosomal dominant form of long QT syndrome, a heart disorder
DE characterized by a prolonged QT interval on the ECG and polymorphic
DE ventricular arrhythmias. They cause syncope and sudden death in
DE response to exercise or emotional stress, and can present with a
DE sentinel event of sudden cardiac death in infancy.
DR MIM; 618782; phenotype.
DR MedGen; CN263287.
DR MeSH; D008133.
KW KW-0454:Long QT syndrome.
//
ID Long QT syndrome 2.
AC DI-00680
AR LQT2.
DE A heart disorder characterized by a prolonged QT interval on the ECG
DE and polymorphic ventricular arrhythmias. They cause syncope and sudden
DE death in response to exercise or emotional stress, and can present
DE with a sentinel event of sudden cardiac death in infancy. Deafness is
DE often associated with long QT syndrome type 2.
SY Long QT syndrome 1/2.
SY LONG QT syndrome 2/3.
SY LONG QT syndrome 2/5.
SY LONG QT syndrome 2/9.
SY LQT1/2.
SY LQT2/3.
SY LQT2/5.
SY LQT2/9.
SY Susceptibility to acquired Long QT syndrome 2.
DR MIM; 613688; phenotype.
DR MedGen; C1859063.
DR MedGen; C3150943.
DR MedGen; C3150944.
DR MedGen; C3276240.
DR MedGen; C3279093.
DR MeSH; D008133.
KW KW-0454:Long QT syndrome.
//
ID Long QT syndrome 3.
AC DI-00681
AR LQT3.
DE A heart disorder characterized by a prolonged QT interval on the ECG
DE and polymorphic ventricular arrhythmias. They cause syncope and sudden
DE death in response to exercise or emotional stress, and can present
DE with a sentinel event of sudden cardiac death in infancy.
DR MIM; 603830; phenotype.
DR MedGen; C1838527.
DR MedGen; C1859062.
DR MeSH; D008133.
KW KW-0454:Long QT syndrome.
//
ID Long QT syndrome 4.
AC DI-00682
AR LQT4.
DE A heart disorder characterized by a prolonged QT interval on the ECG
DE and polymorphic ventricular arrhythmias. They cause syncope and sudden
DE death in response to exercise or emotional stress, and can present
DE with a sentinel event of sudden cardiac death in infancy. Long QT
DE syndrome type 4 shows many atypical features compared to classical
DE long QT syndromes, including pronounced sinus bradycardia, polyphasic
DE T waves and atrial fibrillation. Cardiac repolarization defects may be
DE not as severe as in classical LQT syndromes and prolonged QT interval
DE on EKG is not a consistent feature.
SY Sick sinus syndrome with bradycardia.
DR MIM; 600919; phenotype.
DR MedGen; C1833154.
DR MedGen; C1970119.
DR MeSH; D008133.
KW KW-0454:Long QT syndrome.
//
ID Long QT syndrome 5.
AC DI-00683
AR LQT5.
DE A heart disorder characterized by a prolonged QT interval on the ECG
DE and polymorphic ventricular arrhythmias. They cause syncope and sudden
DE death in response to exercise or emotional stress, and can present
DE with a sentinel event of sudden cardiac death in infancy.
SY Long QT syndrome 2/5.
SY LQT2/5.
SY Susceptibility to acquired Long QT syndrome 5.
DR MIM; 613695; phenotype.
DR MedGen; C1867904.
DR MedGen; C3150956.
DR MeSH; D008133.
KW KW-0454:Long QT syndrome.
//
ID Long QT syndrome 6.
AC DI-00684
AR LQT6.
DE A heart disorder characterized by a prolonged QT interval on the ECG
DE and polymorphic ventricular arrhythmias. They cause syncope and sudden
DE death in response to exercise or emotional stress, and can present
DE with a sentinel event of sudden cardiac death in infancy.
SY Long QT syndrome 3/6.
SY LQT3/6.
SY Susceptibility to acquired Long QT syndrome 6.
DR MIM; 613693; phenotype.
DR MedGen; C1863519.
DR MedGen; C3150953.
DR MedGen; C3150954.
DR MedGen; C3276241.
DR MeSH; D008133.
KW KW-0454:Long QT syndrome.
//
ID Long QT syndrome 7.
AC DI-00685
AR LQT7.
DE A heart disorder characterized by a prolonged QT interval on the ECG
DE and polymorphic ventricular arrhythmias. They cause syncope and sudden
DE death in response to exercise or emotional stress, and can present
DE with a sentinel event of sudden cardiac death in infancy. Long QT
DE syndrome type 7 manifests itself as a clinical triad consisting of
DE potassium-sensitive periodic paralysis, ventricular ectopy and
DE dysmorphic features.
SY Andersen cardiodysrhythmic periodic paralysis.
SY Andersen syndrome.
SY Andersen-Tawil syndrome.
SY ATS.
SY Periodic paralysis, potassium-sensitive cardiodysrhythmic type.
DR MIM; 170390; phenotype.
DR MedGen; C1563715.
DR MeSH; D050030.
KW KW-0454:Long QT syndrome.
//
ID Long QT syndrome 8.
AC DI-05582
AR LQT8.
DE A form of long QT syndrome, a heart disorder characterized by a
DE prolonged QT interval on the ECG and polymorphic ventricular
DE arrhythmias. They cause syncope and sudden death in response to
DE exercise or emotional stress, and can present with a sentinel event of
DE sudden cardiac death in infancy. LQT8 transmission pattern is
DE consistent with autosomal dominant inheritance with incomplete
DE penetrance.
DR MIM; 618447; phenotype.
DR MedGen; CN260585.
DR MeSH; D008133.
KW KW-0454:Long QT syndrome.
//
ID Long QT syndrome 9.
AC DI-00686
AR LQT9.
DE A heart disorder characterized by a prolonged QT interval on the ECG
DE and polymorphic ventricular arrhythmias. They cause syncope and sudden
DE death in response to exercise or emotional stress, and can present
DE with a sentinel event of sudden cardiac death in infancy.
DR MIM; 611818; phenotype.
DR MedGen; C2678485.
DR MeSH; D008133.
KW KW-0454:Long QT syndrome.
//
ID Long-chain 3-hydroxyl-CoA dehydrogenase deficiency.
AC DI-01914
AR LCHAD deficiency.
DE The clinical features are very similar to TFP deficiency.
DE Biochemically, LCHAD deficiency is characterized by reduced long-chain
DE 3-hydroxyl-CoA dehydrogenase activity, while the other enzyme
DE activities of the TFP complex are normal or only slightly reduced.
DR MIM; 609016; phenotype.
DR MedGen; CN074230.
//
ID Loose anagen hair syndrome.
AC DI-01915
AR LAHS.
DE In LAHS, anagen hairs are easily pulled from the scalp. The hair is
DE relatively sparse and does not grow long. Hair of fair color and hair
DE shafts of reduced caliber, and an early age of onset are features.
DE Usually the hairs are not fragile and there are no areas of breakage.
DR MIM; 600628; phenotype.
DR MedGen; C0406468.
//
ID Lopes-Maciel-Rodan syndrome.
AC DI-04988
AR LOMARS.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE developmental regression in infancy, delayed psychomotor development,
DE severe intellectual disability, and cerebral and cerebellar atrophy.
DE Additional features include swallowing problems, dystonia,
DE bradykinesia, and continuous manual stereotypies without chorea. Some
DE patients manifest seizures.
DR MIM; 617435; phenotype.
DR MedGen; C4479491.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis.
AC DI-00689
AR LMWPHN.
DE An X-linked renal disease belonging to the 'Dent disease complex', a
DE group of disorders characterized by proximal renal tubular defect,
DE hypercalciuria, nephrocalcinosis, and renal insufficiency. The
DE spectrum of phenotypic features is remarkably similar in the various
DE disorders, except for differences in the severity of bone deformities
DE and renal impairment. LMWPHN is a slowly progressive disorder.
DE Patients tend to have hypercalciuric nephrocalcinosis without rickets
DE or renal failure.
DR MIM; 308990; phenotype.
DR MedGen; C1839874.
DR MeSH; D015499.
//
ID Lowe oculocerebrorenal syndrome.
AC DI-01916
AR OCRL.
DE X-linked multisystem disorder affecting eyes, nervous system, and
DE kidney. It is characterized by hydrophthalmia, cataract, intellectual
DE disability, vitamin D-resistant rickets, aminoaciduria, and reduced
DE ammonia production by the kidney. Ocular abnormalities include
DE cataract, glaucoma, microphthalmos, and decreased visual acuity.
DE Developmental delay, hypotonia, behavior abnormalities, and areflexia
DE are also present. Renal tubular involvement is characterized by
DE impaired reabsorption of bicarbonate, amino acids, and phosphate.
DE Musculoskeletal abnormalities such as joint hypermobility, dislocated
DE hips, and fractures may develop as consequences of renal tubular
DE acidosis and hypophosphatemia. Cataract is the only significant
DE manifestation in carriers and is detected by slit-lamp examination.
SY Lowe syndrome.
DR MIM; 309000; phenotype.
DR MedGen; C0028860.
DR MedGen; C2713392.
KW KW-1186:Ciliopathy.
//
ID Lower urinary tract obstruction, congenital.
AC DI-05673
AR LUTO.
DE A disorder characterized by urinary bladder outflow obstruction, which
DE can represent an anatomical blockage or a functional obstruction. The
DE most common anatomical causes are posterior urethral valves at the
DE level of the prostatic urethra, a lesion unique to males. Less common
DE are anterior urethral valves, also called urethral atresia, that can
DE occur in either sex. LUTO is an autosomal dominant disease with
DE variable expression.
DR MIM; 618612; phenotype.
DR MedGen; CN262378.
DR MeSH; D014570.
//
ID Lung cancer.
AC DI-02205
AR LNCR.
DE A common malignancy affecting tissues of the lung. The most common
DE form of lung cancer is non-small cell lung cancer (NSCLC) that can be
DE divided into 3 major histologic subtypes: squamous cell carcinoma,
DE adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed
DE at an advanced stage and has a poor prognosis.
SY Adenocarcinoma of lung.
SY Alveolar cell carcinoma.
SY Nonsmall cell lung cancer.
DR MIM; 211980; phenotype.
DR MedGen; C0007120.
DR MedGen; C0007131.
DR MedGen; C0152013.
DR MedGen; C0684249.
DR MedGen; C1968897.
DR MeSH; D008175.
//
ID Lung disease, immunodeficiency, and chromosome breakage syndrome.
AC DI-04908
AR LICS.
DE An autosomal recessive chromosome breakage syndrome associated with
DE severe, fatal lung disease in early childhood, following viral
DE pneumonia. LICS is characterized by combined T and B-cell
DE immunodeficiency. Some patients may have mild dysmorphic features.
DR MIM; 617241; phenotype.
DR MedGen; CN239560.
DR MeSH; D007153.
DR MeSH; D008171.
//
ID Luo-Schoch-Yamamoto syndrome.
AC DI-06178
AR LUSYAM.
DE An autosomal dominant disorder characterized by intrauterine growth
DE retardation, severe intellectual disability, behavioral problems,
DE early-onset seizures, feeding difficulties, and dysmorphic features.
DE White matter abnormalities and delayed myelination are observed on
DE brain imaging.
DR MIM; 619460; phenotype.
DR MedGen; CN300315.
DR MeSH; D008607.
DR MeSH; D012640.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Luscan-Lumish syndrome.
AC DI-04661
AR LLS.
DE An autosomal dominant syndrome with a variable phenotype. Clinical
DE features include macrocephaly, distinctive facial appearance,
DE postnatal overgrowth, various degrees of learning difficulties, autism
DE spectrum disorder, and intellectual disability.
DR MIM; 616831; phenotype.
DR MedGen; CN235340.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
KW KW-1268:Autism spectrum disorder.
//
ID Luteinizing hormone resistance.
AC DI-01902
AR LHR.
DE An autosomal recessive disorder characterized by unresponsiveness to
DE luteinizing hormone, defective sexual development in males, and
DE defective follicular development and ovulation, amenorrhea and
DE infertility in females. Two forms of the disorder have been defined in
DE males. Type 1 is a severe form characterized by complete 46,XY male
DE pseudohermaphroditism, low testosterone and high luteinizing hormone
DE levels, total lack of responsiveness to luteinizing and chorionic
DE gonadotropin hormones, lack of breast development, and absent
DE development of secondary male sex characteristics. Type 2, a milder
DE form, displays a broader range of phenotypic expression ranging from
DE micropenis to severe hypospadias.
SY Female luteinizing hormone resistance.
SY Hypergonadotropic hypogonadism male due to LHCGR defect.
SY Leydig cell agenesis.
SY Leydig cell hypoplasia.
SY Leydig cell hypoplasia complete.
SY Leydig cell hypoplasia partial.
SY Leydig cell hypoplasia type I.
SY Leydig cell hypoplasia type II.
SY Leydig cell hypoplasia with male pseudohermaphroditism.
SY Ovarian luteinizing hormone resistance.
SY Testicular luteinizing hormone resistance.
DR MIM; 238320; phenotype.
DR MedGen; C0266432.
DR MedGen; C2673495.
DR MedGen; C2673497.
DR MedGen; C2673498.
DR MeSH; D007006.
//
ID Lymphangioleiomyomatosis.
AC DI-01919
AR LAM.
DE Progressive and often fatal lung disease characterized by a diffuse
DE proliferation of abnormal smooth muscle cells in the lungs. It affects
DE almost exclusively young women and can occur as an isolated disorder
DE or in association with tuberous sclerosis complex.
DR MIM; 606690; phenotype.
DR MedGen; C0751674.
//
ID Lymphatic malformation 1.
AC DI-00692
AR LMPHM1.
DE A form of primary lymphedema, a disease characterized by swelling of
DE body parts due to developmental anomalies and functional defects of
DE the lymphatic system. Patients with lymphedema may suffer from
DE recurrent local infections. LMPHM1 is an autosomal dominant form with
DE variable expression and severity. Onset is usually at birth or in
DE early childhood but can occur later. Affected individuals manifest
DE lymphedema, predominantly in the lower limbs, and hypoplasia of
DE lymphatic vessels. Additional features are hemangioma and nail
DE dysplasia or papillomatosis.
SY LMPH1A.
SY Lymphedema, hereditary, 1A.
SY Lymphedema early-onset.
SY Lymphedema hereditary type IA.
SY Milroy disease.
SY Nonne-Milroy lymphedema.
SY PCL.
SY Primary congenital lymphedema.
DR MIM; 153100; phenotype.
DR MedGen; C1704423.
DR MeSH; D008209.
//
ID Lymphatic malformation 10.
AC DI-06134
AR LMPHM10.
DE A form of primary lymphedema, a disease characterized by swelling of
DE body parts due to developmental anomalies and functional defects of
DE the lymphatic system. Patients with lymphedema may suffer from
DE recurrent local infections. LMPHM10 is an autosomal dominant form
DE characterized by the onset of swelling in the lower extremities within
DE the first year of life. Lymphedema may also occur in the neck, upper
DE extremities, and scrotum or labia majora. Gradual resorption generally
DE occurs, although some patients may experience progression complicated
DE by cellulitis. Incomplete penetrance has been observed in some
DE families.
DR MIM; 619369; phenotype.
DR MedGen; CN296940.
DR MeSH; D008209.
//
ID Lymphatic malformation 11.
AC DI-06136
AR LMPHM11.
DE A form of primary lymphedema, a disease characterized by swelling of
DE body parts due to developmental anomalies and functional defects of
DE the lymphatic system. Patients with lymphedema may suffer from
DE recurrent local infections. LMPHM11 is an autosomal dominant form
DE characterized by onset of lower extremity edema in the second or third
DE decade of life. Some affected individuals may have subclinical
DE lymphatic malformations.
DR MIM; 619401; phenotype.
DR MedGen; CN299205.
DR MeSH; D008209.
//
ID Lymphatic malformation 3.
AC DI-02795
AR LMPHM3.
DE A form of primary lymphedema, a disease characterized by swelling of
DE body parts due to developmental anomalies and functional defects of
DE the lymphatic system. Patients with lymphedema may suffer from
DE recurrent local infections. LMPHM3 is an autosomal dominant form with
DE variable severity and reduced penetrance. Affected individuals
DE manifest lymphedema of the lower limbs and some patients have
DE lymphedema of the hands.
SY LMPH1C.
SY Lymphedema, hereditary, 1C.
SY Lymphedema hereditary type IC.
DR MIM; 613480; phenotype.
DR MedGen; C3150732.
DR MeSH; D008209.
//
ID Lymphatic malformation 4.
AC DI-04160
AR LMPHM4.
DE A form of primary lymphedema, a disease characterized by swelling of
DE body parts due to developmental anomalies and functional defects of
DE the lymphatic system. Patients with lymphedema may suffer from
DE recurrent local infections. LMPHM4 is an autosomal dominant form with
DE onset at birth or in early childhood. Affected individuals manifest
DE lymphedema of lower limbs with prominent veins, and impaired lymphatic
DE uptake and drainage. Additional features are nail dysplasia, skin
DE hyperkeratosis and papillomatosis.
SY Hereditary lymphedema ID.
SY LMPH1D.
SY Lymphedema, hereditary, 1D.
DR MIM; 615907; phenotype.
DR MedGen; CN197013.
DR MeSH; D008209.
//
ID Lymphatic malformation 6.
AC DI-04669
AR LMPHM6.
DE A form of primary lymphedema, a disease characterized by swelling of
DE body parts due to developmental anomalies and functional defects of
DE the lymphatic system. Patients with lymphedema may suffer from
DE recurrent local infections. LMPHM6 is an autosomal recessive, severe
DE form manifesting as generalized lymphatic dysplasia. It is
DE characterized by uniform, widespread swelling of all segments of the
DE body, with systemic involvement such as intestinal and/or pulmonary
DE lymphangiectasia, pleural effusions, chylothoraces and/or pericardial
DE effusions, and with a high incidence of non- immune hydrops fetalis.
SY Generalized lymphatic dysplasia of Fotiou.
SY LMPH3.
SY Lymphedema, hereditary, 3.
SY Lymphedema, hereditary, III.
DR MIM; 616843; phenotype.
DR MedGen; CN235387.
DR MeSH; D008209.
//
ID Lymphatic malformation 7.
AC DI-04930
AR LMPHM7.
DE A form of primary lymphedema, a disease characterized by swelling of
DE body parts due to developmental anomalies and functional defects of
DE the lymphatic system. Patients with lymphedema may suffer from
DE recurrent local infections. LMPHM7 is an autosomal dominant form with
DE variable expressivity. Some individuals present with severe non-immune
DE hydrops fetalis, which may cause perinatal demise or fully resolve
DE after the neonatal period. Others present with no edema and have
DE milder clinical features, such as atrial septal defect or varicose
DE veins as adults.
SY Central conduction lymphatic anomaly.
SY HFASD.
SY Hydrops fetalis, non-immune, and/or atrial septal defect.
DR MIM; 617300; phenotype.
DR MedGen; CN239945.
DR MeSH; D008209.
//
ID Lymphatic malformation 8.
AC DI-05757
AR LMPHM8.
DE A form of primary lymphedema, a disease characterized by swelling of
DE body parts due to developmental anomalies and functional defects of
DE the lymphatic system. Adult patients with lymphedema may suffer from
DE recurrent local infections. Impaired lymphatic drainage in the fetus
DE can develop into hydrops fetalis, a severe condition characterized by
DE excessive fluid accumulation in more than two fetal extra-vascular
DE compartments and body cavities, placental enlargement and edema,
DE pericardial or pleural effusion, or ascites. LMPHM8 is an autosomal
DE recessive form characterized by onset in utero and fetal death due to
DE non-immune hydrops fetalis.
DR MIM; 618773; phenotype.
DR MedGen; CN263266.
DR MeSH; D015160.
//
ID Lymphatic malformation 9.
AC DI-06104
AR LMPHM9.
DE A form of primary lymphedema, a disease characterized by swelling of
DE body parts due to developmental anomalies and functional defects of
DE the lymphatic system. Patients with lymphedema may suffer from
DE recurrent local infections. Impaired lymphatic drainage in the fetus
DE can develop into hydrops fetalis, a severe condition characterized by
DE excessive fluid accumulation in more than two fetal extra-vascular
DE compartments and body cavities, placental enlargement and edema,
DE pericardial or pleural effusion, or ascites. LMPHM9 is an autosomal
DE dominant form with variable expressivity and incomplete penetrance,
DE characterized by the onset of lower-extremity lymphedema in the first
DE decades of life.
DR MIM; 619319; phenotype.
DR MedGen; CN296786.
DR MeSH; D008209.
//
ID Lymphedema, hereditary, 2.
AC DI-00693
AR LMPH2.
DE A chronic disabling condition which results in swelling of the
DE extremities due to altered lymphatic flow. Patients with lymphedema
DE suffer from recurrent local infections, and physical impairment.
SY Late-onset lymphedema.
SY Lymphedema, hereditary, II.
SY Lymphedema, late-onset.
SY Lymphedema praecox.
SY Meige disease.
SY Meige lymphedema.
DR MIM; 153200; phenotype.
DR MedGen; C0238261.
DR MeSH; D008209.
//
ID Lymphedema, primary, with myelodysplasia.
AC DI-03299
AR LMPM.
DE A chronic disabling condition characterized by swelling of the
DE extremities due to altered lymphatic flow, associated with
DE myelodysplasia. Patients with lymphedema suffer from recurrent local
DE infections, and physical impairment.
SY Emberger syndrome.
DR MIM; 614038; phenotype.
DR MedGen; C3279664.
DR MeSH; D008209.
//
ID Lymphedema-distichiasis syndrome.
AC DI-00690
AR LPHDST.
DE An autosomal dominant disorder characterized by primary limb
DE lymphedema associated with distichiasis (double rows of eyelashes,
DE with extra eyelashes growing from the Meibomian gland orifices).
DE Swelling of the extremities, due to altered lymphatic flow, usually
DE appears in late childhood or puberty. Most affected individuals have
DE ocular findings including corneal irritation, recurrent
DE conjunctivitis, and photophobia. Drooping of the upper eyelid (ptosis)
DE is a variable feature of the lymphedema-distichiasis syndrome,
DE occurring in about 30% of patients.
SY Lymphedema with distichiasis.
DR MIM; 153400; phenotype.
DR MedGen; C0265345.
DR MedGen; C2675066.
DR MeSH; D008209.
//
ID Lymphedema-yellow nails.
AC DI-00691
AR LYYN.
DE A disorder characterized by yellow, dystrophic, thick and slowly
DE growing nails, associated with lymphedema and respiratory involvement.
DE Lymphedema occurs more often in the lower limbs. It can appear at
DE birth or later in life. Onset generally follows the onset of ungual
DE abnormalities.
SY Lymphedema and yellow nails.
SY Yellow nail syndrome.
SY YNS.
DR MIM; 153300; phenotype.
DR MedGen; C0221348.
DR MeSH; D008209.
//
ID Lymphoma, Hodgkin, classic.
AC DI-02721
AR CHL.
DE A malignant disease characterized by progressive enlargement of the
DE lymph nodes, spleen and general lymphoid tissue, and the presence of
DE large, usually multinucleate, cells (Reed-Sternberg cells). Reed-
DE Sternberg cells compose only 1-2% of the total tumor cell mass. The
DE remainder is composed of a variety of reactive, mixed inflammatory
DE cells consisting of lymphocytes, plasma cells, neutrophils,
DE eosinophils and histiocytes.
SY Hodgkin disease.
DR MIM; 236000; phenotype.
DR MedGen; C0019829.
DR MeSH; D006689.
//
ID Lymphoma, mucosa-associated lymphoid type.
AC DI-04738
AR MALTOMA.
DE A subtype of non-Hodgkin lymphoma, originating in mucosa-associated
DE lymphoid tissue. MALT lymphomas occur most commonly in the gastro-
DE intestinal tract but have been described in a variety of extranodal
DE sites including the ocular adnexa, salivary gland, thyroid, lung,
DE thymus, and breast. Histologically, they are characterized by an
DE infiltrate of small to medium-sized lymphocytes with abundant
DE cytoplasm and irregularly shaped nuclei. Scattered transformed blasts
DE (large cells) also are present. Non-malignant reactive follicles are
DE observed frequently. A pivotal feature is the presence of
DE lymphoepithelial lesions, with invasion and partial destruction of
DE mucosal glands and crypts by aggregates of tumor cells.
SY Gastric lymphoma, primary.
SY Lymphoma, MALT, somatic.
SY MALT lymphoma.
SY Marginal zone B-cell lymphoma.
SY Primary gastric lymphoma.
DR MIM; 137245; phenotype.
DR MedGen; C1850900.
DR MeSH; D018442.
//
ID Lymphoproliferative syndrome 1.
AC DI-02628
AR LPFS1.
DE A rare immunodeficiency characterized by extreme susceptibility to
DE infection with Epstein-Barr virus (EBV). Inadequate immune response to
DE EBV can have a fatal outcome. Clinical features include splenomegaly,
DE lymphadenopathy, anemia, thrombocytopenia, pancytopenia, recurrent
DE infections. There is an increased risk for lymphoma.
SY Lymphoproliferative syndrome, EBV-associated, autosomal, 1.
DR MIM; 613011; phenotype.
DR MedGen; C2751686.
DR MedGen; C3552634.
DR MeSH; D008232.
//
ID Lymphoproliferative syndrome 2.
AC DI-03702
AR LPFS2.
DE An autosomal recessive immunodeficiency disorder associated with
DE persistent symptomatic EBV viremia, hypogammaglobulinemia, and
DE impaired T-cell-dependent B-cell responses and T-cell dysfunction. The
DE phenotype is highly variable, ranging from asymptomatic borderline-low
DE hypogammaglobulinemia, to a full-blown symptomatic systemic
DE inflammatory response with life-threatening EBV-related complications,
DE including hemophagocytic lymphohistiocytosis, a lymphoproliferative
DE disorder, and malignant lymphoma requiring stem cell transplantation.
SY CD27 deficiency.
DR MIM; 615122; phenotype.
DR MedGen; C3554540.
DR MedGen; CN168059.
DR MeSH; D008232.
//
ID Lymphoproliferative syndrome 3.
AC DI-05443
AR LPFS3.
DE An autosomal recessive, early-onset immunologic disorder characterized
DE by increased susceptibility to Epstein-Barr virus infection in B
DE cells, abnormal B-cell proliferation and increased susceptibility to
DE B-cell malignancies, including Hodgkin lymphoma. Patients usually have
DE lymphadenopathy and hypogammaglobulinemia, and may suffer from
DE recurrent infections.
DR MIM; 618261; phenotype.
DR MedGen; CN258055.
DR MeSH; D008232.
//
ID Lymphoproliferative syndrome, X-linked, 1.
AC DI-00694
AR XLP1.
DE A rare immunodeficiency characterized by extreme susceptibility to
DE infection with Epstein-Barr virus (EBV). Symptoms include severe or
DE fatal mononucleosis, acquired hypogammaglobulinemia, pancytopenia and
DE malignant lymphoma.
SY Duncan disease.
SY IMD5.
SY Immunodeficiency 5.
SY Purtilo syndrome.
SY X-linked lymphoproliferative disease.
SY X-linked progressive combined variable immunodeficiency.
SY XLPD.
DR MIM; 308240; phenotype.
DR MedGen; C0549463.
DR MedGen; C1868674.
DR MeSH; D008232.
//
ID Lymphoproliferative syndrome, X-linked, 2.
AC DI-00695
AR XLP2.
DE A rare immunodeficiency characterized by extreme susceptibility to
DE infection with Epstein-Barr virus (EBV). Symptoms include severe or
DE fatal mononucleosis, acquired hypogammaglobulinemia, pancytopenia and
DE malignant lymphoma.
SY XIAP deficiency.
DR MIM; 300635; phenotype.
DR MedGen; C1845076.
DR MeSH; D008232.
//
ID Lysinuric protein intolerance.
AC DI-01920
AR LPI.
DE A metabolic disorder characterized by increased renal excretion of
DE cationic amino acid (CAA), reduced CAA absorption from intestine, and
DE orotic aciduria. On a normal diet, LPI patients present poor feeding,
DE vomiting, diarrhea, episodes of hyperammoniaemic coma and growth
DE retardation. Hepatosplenomegaly, osteoporosis and a life-threatening
DE pulmonary involvement (alveolar proteinosis) are also seen.
DE Biochemically LPI is characterized by defective transport of dibasic
DE amino acids at the basolateral membrane of epithelial cells in kidney
DE and intestine.
SY Dibasic amino aciduria II.
DR MIM; 222700; phenotype.
DR MedGen; C0268647.
DR MeSH; D000592.
//
ID Lysyl hydroxylase 3 deficiency.
AC DI-01923
AR LH3 deficiency.
DE Connective tissue disorder. The syndrome is characterized by
DE congenital malformations severely affecting many tissues and organs
DE and revealing features of several collagen disorders, most of them
DE involving COL2A1 (type II collagen). The findings suggest that the
DE failure of lysyl hydroxylation and hydroxylysyl carbohydrate addition,
DE which affects many collagens, is the molecular basis of this syndrome.
SY Bone fragility with contractures arterial rupture and deafness.
DR MIM; 612394; phenotype.
DR MedGen; C2676285.
//
ID Macrocephaly, acquired, with impaired intellectual development.
AC DI-05465
AR MACID.
DE An autosomal dominant disorder characterized by postnatal macrocephaly
DE and borderline to mild intellectual disability. Additional variable
DE neurodevelopmental features include muscular hypotonia, motor and
DE speech delay, attention deficit disorder, autism spectrum disorder,
DE and behavioral abnormalities. Some patients present corpus callosum
DE dysgenesis.
DR MIM; 618286; phenotype.
DR MedGen; CN258138.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Macrocephaly, dysmorphic facies, and psychomotor retardation.
AC DI-04773
AR MDFPMR.
DE An autosomal recessive syndrome characterized by large head and
DE somatic overgrowth, intellectual disability, and facial dysmorphism.
DE Seizures, hypotonia and ataxic gait are observed in some patients.
DR MIM; 617011; phenotype.
DR MedGen; CN237397.
DR MeSH; D006130.
DR MeSH; D008607.
DR MeSH; D019465.
KW KW-0991:Intellectual disability.
//
ID Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin.
AC DI-06356
AR MNDLFH.
DE An autosomal dominant disease characterized by pharyngeal lymphoid
DE hypertrophy, with adenoid overgrowth, sleep apnea, macrocephaly
DE without structural brain abnormalities, and impaired intellectual
DE development. An increased fraction of fetal hemoglobin has been
DE observed in some patients.
DR MIM; 619769; phenotype.
DR MedGen; CN306945.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Macrocephaly/autism syndrome.
AC DI-01924
AR MCEPHAS.
DE Patients have autism spectrum disorders and macrocephaly, with head
DE circumferences ranging from +2.5 to +8 SD for age and sex (average
DE head circumference +4.0 SD).
DR MIM; 605309; phenotype.
DR MedGen; C1854416.
KW KW-1268:Autism spectrum disorder.
//
ID Macrocephaly/megalencephaly syndrome, autosomal recessive.
AC DI-03993
AR MGCPH.
DE An autosomal recessive disorder characterized by abnormal enlargement
DE of the cerebral hemispheres, intellectual disability, large head,
DE optic atrophy and underdeveloped skeletal musculature. Head
DE enlargement may be evident at birth or the head may become abnormally
DE large in the early years of life. Additional clinical features include
DE behavioral abnormalities, psychosis, learning difficulties,
DE prognathism, myopia and astigmatism.
DR MIM; 248000; phenotype.
DR MedGen; C3806412.
DR MeSH; D058627.
//
ID Macrodactyly.
AC DI-05365
AR MADAC.
DE A congenital anomaly characterized by fibrofatty tissue enlargement
DE and bony overgrowth affecting the digits or the entire hand or foot.
SY Congenital macrodactylia.
SY Megalodactyly.
SY Type I macrodactyly.
DR MIM; 155500; phenotype.
DR MedGen; C0265552.
DR MeSH; D017880.
//
ID Macroglobulinemia, Waldenstrom, 1.
AC DI-06042
AR WM1.
DE A malignant B-cell neoplasm characterized by lymphoplasmacytic
DE infiltration of the bone marrow and hypersecretion of monoclonal
DE immunoglobulin M (IgM) protein. Clinical features are variable and
DE include anemia, thrombocytopenia, hepatosplenomegaly, and
DE lymphadenopathy. Many patients have asymptomatic or indolent disease.
SY Macroglobulinemia, Waldenstrom, somatic.
DR MIM; 153600; phenotype.
DR MedGen; C1835192.
DR MedGen; C3549870.
DR MeSH; D008258.
//
ID Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss.
AC DI-01951
AR MATINS.
DE An autosomal dominant disorder characterized by thrombocytopenia,
DE giant platelets and Dohle body-like inclusions in peripheral blood
DE leukocytes with variable ultrastructural appearance. Some affected
DE individuals lack leukocyte inclusion bodies on classic staining of
DE peripheral blood smears. Alport syndrome-like features of nephritis,
DE hearing loss, and eye abnormalities are present in some patients.
SY Alport syndrome, with macrothrombocytopenia.
SY BDPLT6.
SY Bleeding disorder platelet-type 6.
SY Dohle leukocyte inclusions with giant platelets.
SY Epstein syndrome.
SY EPSTNS.
SY Fechtner syndrome.
SY FTNS.
SY Giant platelet syndrome with thrombocytopenia.
SY Macrothrombocytopathy, nephritis, and deafness.
SY Macrothrombocytopathy-nephritis-deafness.
SY Macrothrombocytopenia and progressive sensorineural deafness.
SY Macrothrombocytopenia with leukocyte inclusions.
SY May-Hegglin anomaly.
SY MHA.
SY MPSD.
SY SBS.
SY Sebastian platelet syndrome.
SY Sebastian syndrome.
DR MIM; 155100; phenotype.
DR MedGen; C0340978.
DR MeSH; D013921.
//
ID Macrothrombocytopenia, autosomal dominant, TUBB1-related.
AC DI-02623
AR MAD-TUBB1.
DE A congenital blood disorder characterized by increased platelet size
DE and decreased number of circulating platelets.
DR MIM; 613112; phenotype.
DR MedGen; C2751259.
DR MeSH; D013921.
//
ID MACS syndrome.
AC DI-02637
AR MACS.
DE A complex disorder of elastic tissue characterized by sagging skin and
DE occasionally by life-threatening visceral complications.
SY Macrocephaly alopecia cutis laxa and scoliosis syndrome.
SY Tall forehead, sparse hair, skin hyperextensibility, and scoliosis.
DR MIM; 613075; phenotype.
DR MedGen; C2751321.
DR MeSH; D000505.
DR MeSH; D003483.
DR MeSH; D012600.
DR MeSH; D058627.
//
ID Macular degeneration, age-related, 1.
AC DI-00055
AR ARMD1.
DE A form of age-related macular degeneration, a multifactorial eye
DE disease and the most common cause of irreversible vision loss in the
DE developed world. In most patients, the disease is manifest as
DE ophthalmoscopically visible yellowish accumulations of protein and
DE lipid that lie beneath the retinal pigment epithelium and within an
DE elastin-containing structure known as Bruch membrane.
DR MIM; 603075; phenotype.
DR MedGen; C1864205.
DR MeSH; D008268.
KW KW-0913:Age-related macular degeneration.
//
ID Macular degeneration, age-related, 10.
AC DI-00063
AR ARMD10.
DE A form of age-related macular degeneration, a multifactorial eye
DE disease and the most common cause of irreversible vision loss in the
DE developed world. In most patients, the disease is manifest as
DE ophthalmoscopically visible yellowish accumulations of protein and
DE lipid that lie beneath the retinal pigment epithelium and within an
DE elastin-containing structure known as Bruch membrane.
DR MIM; 611488; phenotype.
DR MedGen; C1969108.
DR MeSH; D008268.
KW KW-0913:Age-related macular degeneration.
//
ID Macular degeneration, age-related, 11.
AC DI-00064
AR ARMD11.
DE A form of age-related macular degeneration, a multifactorial eye
DE disease and the most common cause of irreversible vision loss in the
DE developed world. In most patients, the disease is manifest as
DE ophthalmoscopically visible yellowish accumulations of protein and
DE lipid that lie beneath the retinal pigment epithelium and within an
DE elastin-containing structure known as Bruch membrane.
DR MIM; 611953; phenotype.
DR MedGen; C2677774.
DR MeSH; D008268.
KW KW-0913:Age-related macular degeneration.
//
ID Macular degeneration, age-related, 12.
AC DI-03063
AR ARMD12.
DE A form of age-related macular degeneration, a multifactorial eye
DE disease and the most common cause of irreversible vision loss in the
DE developed world. In most patients, the disease is manifest as
DE ophthalmoscopically visible yellowish accumulations of protein and
DE lipid that lie beneath the retinal pigment epithelium and within an
DE elastin-containing structure known as Bruch membrane.
DR MIM; 613784; phenotype.
DR MedGen; C3151079.
DR MeSH; D008268.
KW KW-0913:Age-related macular degeneration.
//
ID Macular degeneration, age-related, 13.
AC DI-03914
AR ARMD13.
DE A form of age-related macular degeneration, a multifactorial eye
DE disease and the most common cause of irreversible vision loss in the
DE developed world. In most patients, the disease is manifest as
DE ophthalmoscopically visible yellowish accumulations of protein and
DE lipid that lie beneath the retinal pigment epithelium and within an
DE elastin-containing structure known as Bruch membrane.
DR MIM; 615439; phenotype.
DR MedGen; C3809523.
DR MedGen; CN180174.
DR MeSH; D008268.
KW KW-0913:Age-related macular degeneration.
//
ID Macular degeneration, age-related, 14.
AC DI-03919
AR ARMD14.
DE A form of age-related macular degeneration, a multifactorial eye
DE disease and the most common cause of irreversible vision loss in the
DE developed world. In most patients, the disease is manifest as
DE ophthalmoscopically visible yellowish accumulations of protein and
DE lipid that lie beneath the retinal pigment epithelium and within an
DE elastin-containing structure known as Bruch membrane.
DR MIM; 615489; phenotype.
DR MedGen; C3809653.
DR MedGen; CN180565.
DR MeSH; D008268.
KW KW-0913:Age-related macular degeneration.
//
ID Macular degeneration, age-related, 15.
AC DI-03998
AR ARMD15.
DE A form of age-related macular degeneration, a multifactorial eye
DE disease and the most common cause of irreversible vision loss in the
DE developed world. In most patients, the disease is manifest as
DE ophthalmoscopically visible yellowish accumulations of protein and
DE lipid that lie beneath the retinal pigment epithelium and within an
DE elastin-containing structure known as Bruch membrane.
DR MIM; 615591; phenotype.
DR MedGen; C3810042.
DR MedGen; CN183070.
DR MeSH; D008268.
KW KW-0913:Age-related macular degeneration.
//
ID Macular degeneration, age-related, 2.
AC DI-00056
AR ARMD2.
DE A form of age-related macular degeneration, a multifactorial eye
DE disease and the most common cause of irreversible vision loss in the
DE developed world. In most patients, the disease is manifest as
DE ophthalmoscopically visible yellowish accumulations of protein and
DE lipid that lie beneath the retinal pigment epithelium and within an
DE elastin-containing structure known as Bruch membrane.
DR MIM; 153800; phenotype.
DR MedGen; C3495438.
DR MedGen; CN031413.
DR MeSH; D008268.
KW KW-0913:Age-related macular degeneration.
//
ID Macular degeneration, age-related, 3.
AC DI-00057
AR ARMD3.
DE A form of age-related macular degeneration, a multifactorial eye
DE disease and the most common cause of irreversible vision loss in the
DE developed world. In most patients, the disease is manifest as
DE ophthalmoscopically visible yellowish accumulations of protein and
DE lipid that lie beneath the retinal pigment epithelium and within an
DE elastin-containing structure known as Bruch membrane.
DR MIM; 608895; phenotype.
DR MedGen; C1837187.
DR MeSH; D008268.
KW KW-0913:Age-related macular degeneration.
//
ID Macular degeneration, age-related, 4.
AC DI-00058
AR ARMD4.
DE A form of age-related macular degeneration, a multifactorial eye
DE disease and the most common cause of irreversible vision loss in the
DE developed world. In most patients, the disease is manifest as
DE ophthalmoscopically visible yellowish accumulations of protein and
DE lipid that lie beneath the retinal pigment epithelium and within an
DE elastin-containing structure known as Bruch membrane.
DR MIM; 610698; phenotype.
DR MedGen; C1853147.
DR MeSH; D008268.
KW KW-0913:Age-related macular degeneration.
//
ID Macular degeneration, age-related, 5.
AC DI-02999
AR ARMD5.
DE A form of age-related macular degeneration, a multifactorial eye
DE disease and the most common cause of irreversible vision loss in the
DE developed world. In most patients, the disease is manifest as
DE ophthalmoscopically visible yellowish accumulations of protein and
DE lipid that lie beneath the retinal pigment epithelium and within an
DE elastin-containing structure known as Bruch membrane.
DR MIM; 613761; phenotype.
DR MedGen; C3151063.
DR MeSH; D008268.
KW KW-0913:Age-related macular degeneration.
//
ID Macular degeneration, age-related, 6.
AC DI-00059
AR ARMD6.
DE A form of age-related macular degeneration, a multifactorial eye
DE disease and the most common cause of irreversible vision loss in the
DE developed world. In most patients, the disease is manifest as
DE ophthalmoscopically visible yellowish accumulations of protein and
DE lipid that lie beneath the retinal pigment epithelium and within an
DE elastin-containing structure known as Bruch membrane.
DR MIM; 613757; phenotype.
DR MedGen; C3151060.
DR MeSH; D008268.
KW KW-0913:Age-related macular degeneration.
//
ID Macular degeneration, age-related, 7.
AC DI-00060
AR ARMD7.
DE A form of age-related macular degeneration, a multifactorial eye
DE disease and the most common cause of irreversible vision loss in the
DE developed world. In most patients, the disease is manifest as
DE ophthalmoscopically visible yellowish accumulations of protein and
DE lipid that lie beneath the retinal pigment epithelium and within an
DE elastin-containing structure known as Bruch membrane.
DR MIM; 610149; phenotype.
DR MedGen; C1857813.
DR MedGen; C1857814.
DR MedGen; C1857815.
DR MeSH; D008268.
KW KW-0913:Age-related macular degeneration.
//
ID Macular degeneration, age-related, 8.
AC DI-00061
AR ARMD8.
DE A form of age-related macular degeneration, a multifactorial eye
DE disease and the most common cause of irreversible vision loss in the
DE developed world. In most patients, the disease is manifest as
DE ophthalmoscopically visible yellowish accumulations of protein and
DE lipid that lie beneath the retinal pigment epithelium and within an
DE elastin-containing structure known as Bruch membrane.
DR MIM; 613778; phenotype.
DR MedGen; C3151070.
DR MeSH; D008268.
KW KW-0913:Age-related macular degeneration.
//
ID Macular degeneration, age-related, 9.
AC DI-00062
AR ARMD9.
DE A form of age-related macular degeneration, a multifactorial eye
DE disease and the most common cause of irreversible vision loss in the
DE developed world. In most patients, the disease is manifest as
DE ophthalmoscopically visible yellowish accumulations of protein and
DE lipid that lie beneath the retinal pigment epithelium and within an
DE elastin-containing structure known as Bruch membrane.
DR MIM; 611378; phenotype.
DR MedGen; C1969651.
DR MeSH; D008268.
KW KW-0913:Age-related macular degeneration.
//
ID Macular degeneration, early-onset.
AC DI-04285
AR EOMD.
DE An ocular disorder characterized by macular changes resulting in
DE progressive loss of visual acuity.
DR MIM; 616118; phenotype.
DR MedGen; CN221671.
DR MeSH; D008268.
//
ID Macular degeneration, X-linked, atrophic.
AC DI-03005
AR MDXLA.
DE An ocular disorder characterized by macular atrophy causing
DE progressive loss of visual acuity with minimal peripheral visual
DE impairment. Some patients manifest extensive macular degeneration plus
DE peripheral loss of retinal pigment epithelium and choriocapillaries.
DE Full-field electroretinograms (ERGs) show normal cone and rod
DE responses in some affected males despite advanced macular
DE degeneration.
DR MIM; 300834; phenotype.
DR MedGen; C3151784.
DR MeSH; D008268.
//
ID Macular dystrophy with central cone involvement.
AC DI-04295
AR CCMD.
DE An ocular disease characterized by decreased visual acuity, slight
DE pigmentary changes and color vision abnormalities, becoming apparent
DE in the third to sixth decade of life. Fundus anomalies are variable
DE and include bull's eye maculopathy, severe atrophy of central fovea,
DE relatively spared fovea with surrounding atrophic ring, central
DE retinal pigment epithelium and/or choroid changes, pale or atrophic
DE peripapillary area, pale optic disk, relatively spared periphery, and
DE slightly or moderately attenuated vessels.
DR MIM; 616170; phenotype.
DR MedGen; CN224989.
DR MeSH; D005128.
//
ID Macular dystrophy, corneal.
AC DI-01925
AR MCD.
DE An ocular disease characterized by bilateral, progressive corneal
DE opacification, and reduced corneal sensitivity. Onset occurs in the
DE first decade, usually between ages 5 and 9. Painful attacks with
DE photophobia, foreign body sensations, and recurrent erosions occur in
DE most patients. The disease is due to deposition of an unsulfated
DE keratan sulfate both within the intracellular space (within the
DE keratocytes and endothelial cells) and in the extracellular corneal
DE stroma. Macular corneal dystrophy is divided into the clinically
DE indistinguishable types I, IA, and II based on analysis of the
DE normally sulfated, or antigenic, keratan sulfate levels in serum and
DE immunohistochemical evaluation of the cornea. Patients with types I
DE and IA macular corneal dystrophy have undetectable serum levels of
DE antigenic keratan sulfate, whereas those with type II macular corneal
DE dystrophy have normal or low levels, depending on the population
DE examined.
SY Corneal dystrophy macular type.
SY Groenouw type II corneal dystrophy.
SY Macular corneal dystrophy type I.
SY Macular corneal dystrophy type II.
SY MCDC1.
DR MIM; 217800; phenotype.
DR MedGen; C1636149.
DR MedGen; C1691013.
DR MeSH; D003317.
KW KW-1212:Corneal dystrophy.
//
ID Macular dystrophy, patterned, 1.
AC DI-00902
AR MDPT1.
DE A form of retinal patterned dystrophy, a heterogeneous group of
DE macular disorders that includes reticular (fishnet-like) dystrophy,
DE macroreticular (spider-shaped) dystrophy and butterfly-shaped pigment
DE dystrophy.
SY Butterfly dystrophy of retinal pigment epithelium.
SY Macular dystrophy, butterfly-shaped pigmentary.
SY Patterned dystrophy of retinal pigment epithelium.
DR MIM; 169150; phenotype.
DR MedGen; C1868569.
DR MeSH; D058499.
//
ID Macular dystrophy, patterned, 2.
AC DI-04710
AR MDPT2.
DE A form of retinal patterned dystrophy, a heterogeneous group of
DE macular disorders caused by abnormal accumulation of lipofuscin in the
DE retinal pigment epithelium. Lipofuscin distribution can show various
DE shapes that define different types of macular dystrophy, including
DE reticular (fishnet-like) dystrophy, macroreticular (spider-shaped)
DE dystrophy and butterfly-shaped pigment dystrophy. MDPT2 is an
DE autosomal dominant form characterized by bilateral accumulation of
DE pigment in the macular area that resembles the wings of a butterfly.
SY Macular dystrophy, butterfly-shaped pigmentary, 2.
DR MIM; 608970; phenotype.
DR MedGen; C1837029.
DR MeSH; D058499.
//
ID Macular dystrophy, patterned, 3.
AC DI-04818
AR MDPT3.
DE A form of retinal patterned dystrophy, characterized by retinal
DE pigment epithelium and Bruch's membrane changes resembling a 'dry
DE desert land'. It begins around the age of 30 and progresses to
DE retinitis pigmentosa. MDPT3 inheritance is autosomal dominant.
SY Martinique crinkled retinal pigment epitheliopathy.
DR MIM; 617111; phenotype.
DR MedGen; CN238481.
DR MeSH; D058499.
//
ID Macular dystrophy, vitelliform, 2.
AC DI-01124
AR VMD2.
DE An autosomal dominant form of macular degeneration that usually begins
DE in childhood or adolescence. VMD2 is characterized by typical 'egg-
DE yolk' macular lesions due to abnormal accumulation of lipofuscin
DE within and beneath the retinal pigment epithelium cells. Progression
DE of the disease leads to destruction of the retinal pigment epithelium
DE and vision loss.
SY Best's macular dystrophy.
SY Best disease.
SY Best macular dystrophy.
SY Best vitelliform macular dystrophy.
SY Best vitelliform macular dystrophy, multifocal.
SY BMD.
SY Early-onset vitelliform macular dystrophy.
SY Juvenile-onset vitelliform macular dystrophy.
SY Macular degeneration, polymorphic vitelline.
SY VMD.
DR MIM; 153700; phenotype.
DR MedGen; C0339510.
DR MedGen; C2675055.
DR MedGen; C2745945.
DR MeSH; D057826.
//
ID Macular dystrophy, vitelliform, 3.
AC DI-00051
AR VMD3.
DE A form of vitelliform macular dystrophy, a retinal disease
DE characterized by yellow, lipofuscin-containing deposits, usually
DE localized at the center of the macula. Patients usually become
DE symptomatic in the fourth or fifth decade of life with a protracted
DE disease of decreased visual acuity.
SY Adult-onset foveomacular dystrophy.
SY Adult-onset vitelliform macular dystrophy.
SY AOFMD.
SY AVMD.
SY Foveomacular dystrophy, adult-onset, with or without choroidal neovascularization.
DR MIM; 608161; phenotype.
DR MedGen; C1842914.
DR MeSH; D057826.
//
ID Macular dystrophy, vitelliform, 4.
AC DI-04286
AR VMD4.
DE A form of macular dystrophy, a retinal disease in which various forms
DE of deposits, pigmentary changes, and atrophic lesions are observed in
DE the macula lutea. Vitelliform macular dystrophies are characterized by
DE yellow, lipofuscin-containing deposits, usually localized at the
DE center of the macula. VMD4 features include late-onset moderate visual
DE impairment, small satellite drusen-like lesions in the foveal area,
DE and preservation of retinal pigment epithelium reflectivity.
DR MIM; 616151; phenotype.
DR MedGen; CN224845.
DR MeSH; D057826.
//
ID Macular dystrophy, vitelliform, 5.
AC DI-04287
AR VMD5.
DE A form of macular dystrophy, a retinal disease in which various forms
DE of deposits, pigmentary changes, and atrophic lesions are observed in
DE the macula lutea. Vitelliform macular dystrophies are characterized by
DE yellow, lipofuscin-containing deposits, usually localized at the
DE center of the macula. VMD5 features include late-onset moderate visual
DE impairment and preservation of retinal pigment epithelium
DE reflectivity.
DR MIM; 616152; phenotype.
DR MedGen; CN224846.
DR MeSH; D057826.
//
ID Maculopathy, IMPG2-related.
AC DI-02910
AR MACLP-IMPG2.
DE A mild maculopathy characterized by full-field electroretinogram
DE responses within normal limits, normal color vision, elevation of the
DE photoreceptor layer in the foveal region and mild nuclear sclerosis.
DR MIM; 613581; phenotype.
DR MedGen; C3150820.
DR MeSH; D008268.
//
ID Mahvash disease.
AC DI-06086
AR MVAH.
DE An autosomal recessive disorder characterized by alpha-cell
DE hyperplasia of the pancreas, hyperglucagonemia without glucagonoma
DE syndrome, aminoacidemia, and occasional hypoglycemia. The disease may
DE lead to glucagonomas and/or primitive neuroectodermal tumors.
SY Alpha-cell hyperplasia with glucagonemia.
DR MIM; 619290; phenotype.
DR MedGen; C4763635.
DR MeSH; D010182.
//
ID Majeed syndrome.
AC DI-01926
AR MJDS.
DE An autosomal recessive syndrome characterized by chronic recurrent
DE multifocal osteomyelitis that is of early onset with a lifelong
DE course, congenital dyserythropoietic anemia that presents as
DE hypochromic, microcytic anemia during the first year of life and
DE ranges from mild to transfusion-dependent, and transient inflammatory
DE dermatosis, often manifesting as Sweet syndrome (neutrophilic skin
DE infiltration).
SY Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia and neutrophilic dermatosis.
DR MIM; 609628; phenotype.
DR MedGen; C1864997.
DR MeSH; D000742.
KW KW-1055:Congenital dyserythropoietic anemia.
//
ID Major affective disorder 7.
AC DI-02890
AR MAFD7.
DE A major psychiatric disorder that is characterized by severe mood
DE swings, with fluctuation between two abnormal mood states (manic or
DE major depressive episode). Mania is accompanied by symptoms of
DE euphoria, irritability, or excitation, whereas depression is
DE associated with low mood and decreased motivation and energy.
SY Bipolar affective disorder.
SY Manic depressive illness.
SY Manic-depressive psychosis.
DR MIM; 612371; phenotype.
DR MedGen; C2700438.
DR MeSH; D001714.
//
ID Major depressive disorder.
AC DI-00697
AR MDD.
DE A common psychiatric disorder. It is a complex trait characterized by
DE one or more major depressive episodes without a history of manic,
DE mixed, or hypomanic episodes. A major depressive episode is
DE characterized by at least 2 weeks during which there is a new onset or
DE clear worsening of either depressed mood or loss of interest or
DE pleasure in nearly all activities. Four additional symptoms must also
DE be present including changes in appetite, weight, sleep, and
DE psychomotor activity; decreased energy; feelings of worthlessness or
DE guilt; difficulty thinking, concentrating, or making decisions; or
DE recurrent thoughts of death or suicidal ideation, plans, or attempts.
DE The episode must be accompanied by distress or impairment in social,
DE occupational, or other important areas of functioning.
SY SAD.
SY Seasonal affective disorder.
SY Unipolar depression.
DR MIM; 608516; phenotype.
DR MedGen; C0041696.
DR MedGen; C0085159.
DR MedGen; C1269683.
DR MeSH; D003865.
//
ID Mal de Meleda.
AC DI-00698
AR MDM.
DE A rare autosomal recessive skin disorder, characterized by diffuse
DE transgressive palmoplantar keratoderma with keratotic lesions
DE extending onto the dorsa of the hands and the feet (transgrediens).
DE Patients may have hyperhidrosis. Other features include perioral
DE erythema, lichenoid plaques on the knees and the elbows, and nail
DE abnormalities.
SY Keratosis palmoplantaris transgradiens of Siemens.
SY Meleda disease.
DR MIM; 248300; phenotype.
DR MedGen; C0025221.
DR MeSH; D007645.
KW KW-1007:Palmoplantar keratoderma.
//
ID Malan syndrome.
AC DI-03506
AR MALNS.
DE An autosomal dominant syndrome characterized by overgrowth, advanced
DE bone age, macrocephaly, impaired intellectual development, behavior
DE anomalies, and dysmorphic facial features. Patients develop marfanoid
DE habitus, with long and slender body, very low body mass, long narrow
DE face, and arachnodactyly.
SY Malan overgrowth syndrome.
SY SOTOS2.
SY Sotos syndrome 2.
DR MIM; 614753; phenotype.
DR MedGen; C3553660.
DR MedGen; CN130953.
DR MeSH; D058495.
//
ID Male pseudohermaphrodism with gynecomastia.
AC DI-01928
AR MPH.
DE An autosomal recessive disorder that manifests, in males, as
DE undermasculinization characterized by hypoplastic-to-normal internal
DE genitalia (epididymis, vas deferens, seminal vesicles, and ejaculatory
DE ducts) but female external genitalia and the absence of a prostate.
DE This phenotype is caused by inadequate testicular synthesis of
DE testosterone, which, in turn, results in insufficient formation of
DE dihydrotestosterone in the anlage of the external genitalia and
DE prostate during fetal development. At the expected time of puberty,
DE there is a marked increase in plasma leuteinizing hormone and,
DE consequently, in testicular secretion of androstenedione. Hence, a
DE diagnostic hallmark of this disorder is a decreased plasma
DE testosterone-to-androstenedione ratio. Significant amounts of the
DE circulating androstenedione are, however, converted to testosterone,
DE in peripheral tissues, thereby causing virilization.
SY 17-beta hydroxysteroid dehydrogenase III deficiency.
SY 17-ketosteroid reductase deficiency of testis.
SY 17-KSR deficiency.
SY Neutral 17-beta-hydroxysteroid oxidoreductase deficiency.
SY Pseudohermaphroditism, male, with gynecomastia.
DR MIM; 264300; phenotype.
DR MedGen; C0268296.
DR MedGen; C1849695.
DR MeSH; D058490.
//
ID Maleylacetoacetate isomerase deficiency.
AC DI-05047
AR MAAID.
DE An autosomal recessive inborn error of metabolism characterized by
DE mild elevations in succinylacetone in blood and urine, usually
DE identified by newborn screening. Liver function and coagulation are
DE normal. MAAID is a benign disorder.
SY Benign hypersuccinylacetonemia.
SY BHSA.
SY Hypersuccinylacetonemia, mild.
SY MAAI deficiency.
SY MHSA.
DR MIM; 617596; phenotype.
DR MedGen; CN351187.
DR MeSH; D008661.
//
ID Malignant hyperthermia 1.
AC DI-01929
AR MHS1.
DE Autosomal dominant pharmacogenetic disorder of skeletal muscle and is
DE one of the main causes of death due to anesthesia. In susceptible
DE people, an MH episode can be triggered by all commonly used
DE inhalational anesthetics such as halothane and by depolarizing muscle
DE relaxants such as succinylcholine. The clinical features of the
DE myopathy are hyperthermia, accelerated muscle metabolism,
DE contractures, metabolic acidosis, tachycardia and death, if not
DE treated with the postsynaptic muscle relaxant, dantrolene.
DE Susceptibility to MH can be determined with the 'in vitro' contracture
DE test (IVCT): observing the magnitude of contractures induced in strips
DE of muscle tissue by caffeine alone and halothane alone. Patients with
DE normal response are MH normal (MHN), those with abnormal response to
DE caffeine alone or halothane alone are MH equivocal (MHE(C) and MHE(H)
DE respectively).
SY Hyperpyrexia, malignant.
SY Hyperthermia of anesthesia.
SY MH.
DR MIM; 145600; phenotype.
DR MedGen; C0024591.
DR MedGen; C1840365.
DR MeSH; D008305.
//
ID Malignant hyperthermia 5.
AC DI-01930
AR MHS5.
DE Autosomal dominant disorder that is potentially lethal in susceptible
DE individuals on exposure to commonly used inhalational anesthetics and
DE depolarizing muscle relaxants.
DR MIM; 601887; phenotype.
DR MedGen; C1866077.
DR MedGen; C2930984.
//
ID Malonyl-CoA decarboxylase deficiency.
AC DI-01931
AR MLYCD deficiency.
DE Autosomal recessive disease characterized by abdominal pain, chronic
DE constipation, episodic vomiting, metabolic acidosis and malonic
DE aciduria.
DR MIM; 248360; phenotype.
DR MedGen; C0342793.
//
ID Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome.
AC DI-03863
AR MDPL.
DE An autosomal dominant systemic disorder characterized by prominent
DE loss of subcutaneous fat, metabolic abnormalities including insulin
DE resistance and diabetes mellitus, sclerodermatous skin, and a facial
DE appearance characterized by mandibular hypoplasia. Sensorineural
DE deafness occurs late in the first or second decades of life.
DR MIM; 615381; phenotype.
DR MedGen; C3715192.
DR MedGen; CN179768.
DR MeSH; D003638.
DR MeSH; D008060.
DR MeSH; D008661.
//
ID Mandibuloacral dysplasia progeroid syndrome.
AC DI-05993
AR MDPS.
DE A form of mandibuloacral dysplasia, a rare progeroid disorder with
DE clinical and genetic heterogeneity, characterized by growth
DE retardation, craniofacial dysmorphic features due to distal bone
DE resorption, musculoskeletal and skin abnormalities associated with
DE lipodystrophy. MDPS is an autosomal recessive disorder. Clinical
DE features include poor growth, osteoporosis, osteopenia, acroosteolysis
DE of distal phalanges, arterial calcification, renal glomerulosclerosis
DE and severe hypertension.
DR MIM; 619127; phenotype.
DR MedGen; CN293587.
DR MeSH; D008060.
DR MeSH; D019588.
DR MeSH; D030981.
//
ID Mandibuloacral dysplasia with type A lipodystrophy.
AC DI-01932
AR MADA.
DE A form of mandibuloacral dysplasia, a rare progeroid disorder with
DE clinical and genetic heterogeneity, characterized by growth
DE retardation, craniofacial dysmorphic features due to distal bone
DE resorption, musculoskeletal and skin abnormalities associated with
DE lipodystrophy. MADA is an autosomal recessive disease characterized by
DE mandibular and clavicular hypoplasia, acroosteolysis, delayed closure
DE of the cranial suture, progeroid appearance, partial alopecia, soft
DE tissue calcinosis, joint contractures, and partial lipodystrophy with
DE loss of subcutaneous fat from the extremities. Adipose tissue in the
DE face, neck and trunk is normal or increased.
SY Craniomandibular dermatodysostosis.
SY Lipodystrophy type A associated with mandibuloacral dysplasia.
SY Mandibuloacral dysplasia with type A lipodystrophy atypical.
SY Tendinous calcinosis arthropathy and progeroid features.
DR MIM; 248370; phenotype.
DR MedGen; C0432291.
DR MedGen; C2673440.
DR MeSH; D008060.
DR MeSH; D019588.
DR MeSH; D030981.
//
ID Mandibuloacral dysplasia with type B lipodystrophy.
AC DI-01933
AR MADB.
DE A form of mandibuloacral dysplasia, a rare progeroid disorder with
DE clinical and genetic heterogeneity, characterized by growth
DE retardation, craniofacial dysmorphic features due to distal bone
DE resorption, musculoskeletal and skin abnormalities associated with
DE lipodystrophy. MADB is a disease characterized by mandibular and
DE clavicular hypoplasia, acroosteolysis, delayed closure of the cranial
DE suture, joint contractures, and generalized lipodystrophy with loss of
DE subcutaneous fat from the extremities, face, neck and trunk.
SY Lipodystrophy type B associated with mandibuloacral dysplasia.
DR MIM; 608612; phenotype.
DR MedGen; C1837756.
DR MeSH; D008060.
DR MeSH; D019588.
DR MeSH; D030981.
//
ID Mandibulofacial dysostosis with alopecia.
AC DI-04426
AR MFDA.
DE A form of mandibulofacial dysostosis, a disorder characterized by
DE malar and mandibular hypoplasia, typically associated with
DE abnormalities of the ears and eyelids. MFDA features include maxillary
DE dysmorphism with dysplastic zygomatic arch, hypoplastic mandible,
DE scalp alopecia, scant eyebrows and eyelashes, severe hypoplasia or
DE aplasia of eyelids, small cupped dysplastic ears, conductive hearing
DE loss, cleft palate, dental anomalies, micrognathia, and limited jaw
DE mobility.
DR MIM; 616367; phenotype.
DR MedGen; CN230322.
DR MeSH; D008342.
KW KW-1063:Hypotrichosis.
//
ID Mandibulofacial dysostosis with microcephaly.
AC DI-03414
AR MFDM.
DE A rare syndrome characterized by progressive microcephaly, midface and
DE malar hypoplasia, micrognathia, microtia, dysplastic ears,
DE preauricular skin tags, significant developmental delay, and speech
DE delay. Many patients have major sequelae, including choanal atresia
DE that results in respiratory difficulties, conductive hearing loss, and
DE cleft palate.
DR MIM; 610536; phenotype.
DR MedGen; C1864652.
DR MeSH; D008342.
DR MeSH; D008831.
KW KW-0991:Intellectual disability.
//
ID Manitoba oculotrichoanal syndrome.
AC DI-03215
AR MOTA.
DE A rare condition defined by eyelid colobomas, cryptophthalmos, and
DE anophthalmia/microphthalmia, an aberrant hairline, a bifid or broad
DE nasal tip, and gastrointestinal anomalies such as omphalocele and anal
DE stenosis.
SY Marles syndrome.
DR MIM; 248450; phenotype.
DR MedGen; C1855425.
DR MeSH; D005124.
//
ID Mannosidosis, alpha B, lysosomal.
AC DI-01921
AR MANSA.
DE A lysosomal storage disease characterized by accumulation of
DE unbranched oligosaccharide chains. This accumulation is expressed
DE histologically as cytoplasmic vacuolation predominantly in the CNS and
DE parenchymatous organs. Depending on the clinical findings at the age
DE of onset, a severe infantile (type I) and a mild juvenile (type II)
DE form of alpha-mannosidosis are recognized. There is considerable
DE variation in the clinical expression with intellectual disability,
DE recurrent infections, impaired hearing and Hurler-like skeletal
DE changes being the most consistent abnormalities.
SY Alpha-mannosidase B deficiency.
SY Alpha-mannosidosis.
SY Alpha-mannosidosis types I and II.
SY Lysosomal alpha-D-mannosidase deficiency.
DR MIM; 248500; phenotype.
DR MedGen; C0024748.
DR MedGen; C1855396.
DR MeSH; D008363.
//
ID Mannosidosis, beta A, lysosomal.
AC DI-01922
AR MANSB.
DE An autosomal recessive lysosomal storage disease of glycoprotein
DE catabolism. Clinical features are heterogeneous with a wide range of
DE symptoms and age of onset. The disease is associated with a range of
DE neurological involvement, including various degrees of intellectual
DE disability in most of the cases, hearing loss and speech impairment,
DE hypotonia, epilepsy and peripheral neuropathy. Affected individuals
DE have a profound reduction in beta A mannosidase activity in plasma,
DE fibroblasts and leukocytes.
SY Beta-mannosidase deficiency.
SY Beta-mannosidosis.
SY Lysosomal beta-mannosidase deficiency.
DR MIM; 248510; phenotype.
DR MedGen; C0342849.
DR MedGen; C2931893.
DR MeSH; D044905.
//
ID Maple syrup urine disease.
AC DI-01934
AR MSUD.
DE A metabolic disorder due to an enzyme defect in the catabolic pathway
DE of the branched-chain amino acids leucine, isoleucine, and valine.
DE Accumulation of these 3 amino acids and their corresponding keto acids
DE leads to encephalopathy and progressive neurodegeneration. Clinical
DE features include mental and physical retardation, feeding problems,
DE and a maple syrup odor to the urine. The keto acids of the branched-
DE chain amino acids are present in the urine. If untreated, maple syrup
DE urine disease can lead to seizures, coma, and death. The disease is
DE often classified by its pattern of signs and symptoms. The most common
DE and severe form of the disease is the classic type, which becomes
DE apparent soon after birth. Variant forms of the disorder become
DE apparent later in infancy or childhood and are typically milder, but
DE they still involve developmental delay and other medical problems if
DE not treated.
SY BCKD deficiency.
SY Branched-chain alpha-keto acid dehydrogenase deficiency.
SY Branched-chain ketoaciduria.
SY Classic maple syrup urine disease.
SY Intermediate maple syrup urine disease.
SY Intermittent maple syrup urine disease.
SY Keto acid decarboxylase deficiency.
SY Thiamine-responsive maple syrup urine disease.
DR MIM; 248600; phenotype.
DR MedGen; C0024776.
DR MedGen; C0268568.
DR MedGen; C0268569.
DR MedGen; C0751285.
DR MedGen; C1621920.
DR MeSH; D008375.
//
ID Maple syrup urine disease 1A.
AC DI-01936
AR MSUD1A.
DE A metabolic disorder due to an enzyme defect in the catabolic pathway
DE of the branched-chain amino acids leucine, isoleucine, and valine.
DE Accumulation of these 3 amino acids and their corresponding keto acids
DE leads to encephalopathy and progressive neurodegeneration. Clinical
DE features include mental and physical retardation, feeding problems,
DE and a maple syrup odor to the urine. The keto acids of the branched-
DE chain amino acids are present in the urine. If untreated, maple syrup
DE urine disease can lead to seizures, coma, and death. The disease is
DE often classified by its pattern of signs and symptoms. The most common
DE and severe form of the disease is the classic type, which becomes
DE apparent soon after birth. Variant forms of the disorder become
DE apparent later in infancy or childhood and are typically milder, but
DE they still involve developmental delay and other medical problems if
DE not treated.
SY Maple syrup urine disease type IA.
SY MSUD type IA.
DR MIM; 248600; phenotype.
DR MedGen; C1855369.
DR MedGen; CN068546.
DR MeSH; D008375.
//
ID Maple syrup urine disease 1B.
AC DI-01937
AR MSUD1B.
DE A metabolic disorder due to an enzyme defect in the catabolic pathway
DE of the branched-chain amino acids leucine, isoleucine, and valine.
DE Accumulation of these 3 amino acids and their corresponding keto acids
DE leads to encephalopathy and progressive neurodegeneration. Clinical
DE features include mental and physical retardation, feeding problems,
DE and a maple syrup odor to the urine. The keto acids of the branched-
DE chain amino acids are present in the urine. If untreated, maple syrup
DE urine disease can lead to seizures, coma, and death. The disease is
DE often classified by its pattern of signs and symptoms. The most common
DE and severe form of the disease is the classic type, which becomes
DE apparent soon after birth. Variant forms of the disorder become
DE apparent later in infancy or childhood and are typically milder, but
DE they still involve developmental delay and other medical problems if
DE not treated.
SY Maple syrup urine disease type IB.
SY MSUD type IB.
DR MIM; 248600; phenotype.
DR MedGen; C1855370.
DR MeSH; D008375.
//
ID Maple syrup urine disease 2.
AC DI-01935
AR MSUD2.
DE A metabolic disorder due to an enzyme defect in the catabolic pathway
DE of the branched-chain amino acids leucine, isoleucine, and valine.
DE Accumulation of these 3 amino acids and their corresponding keto acids
DE leads to encephalopathy and progressive neurodegeneration. Clinical
DE features include mental and physical retardation, feeding problems,
DE and a maple syrup odor to the urine. The keto acids of the branched-
DE chain amino acids are present in the urine. If untreated, maple syrup
DE urine disease can lead to seizures, coma, and death. The disease is
DE often classified by its pattern of signs and symptoms. The most common
DE and severe form of the disease is the classic type, which becomes
DE apparent soon after birth. Variant forms of the disorder become
DE apparent later in infancy or childhood and are typically milder, but
DE they still involve developmental delay and other medical problems if
DE not treated.
SY Maple syrup urine disease type II.
SY MSUD type II.
DR MIM; 248600; phenotype.
DR MedGen; C1855371.
DR MedGen; CN069615.
DR MeSH; D008375.
//
ID Maple syrup urine disease, mild variant.
AC DI-03756
AR MSUDMV.
DE A mild form of maple syrup urine disease, a metabolic disorder due to
DE an enzyme defect in the catabolic pathway of the branched-chain amino
DE acids leucine, isoleucine, and valine. Accumulation of these 3 amino
DE acids and their corresponding keto acids leads to encephalopathy and
DE progressive neurodegeneration. Clinical features include mental and
DE physical retardation, feeding problems, and a maple syrup odor to the
DE urine. The keto acids of the branched-chain amino acids are present in
DE the urine. If untreated, maple syrup urine disease can lead to
DE seizures, coma, and death. The disease is often classified by its
DE pattern of signs and symptoms. The most common and severe form of the
DE disease is the classic type, which becomes apparent soon after birth.
DE Variant forms of the disorder become apparent later in infancy or
DE childhood and are typically milder, but they still involve
DE developmental delay and other medical problems if not treated. MSUDMV
DE is characterized by increased plasma levels of branched-chain amino
DE acids (BCAA) apparent at birth. Treatment with a low-protein diet free
DE of BCAA can result in normal psychomotor development and lack of
DE metabolic episodes.
DR MIM; 615135; phenotype.
DR MedGen; C3554575.
DR MedGen; CN168515.
DR MeSH; D008375.
//
ID Marbach-Rustad progeroid syndrome.
AC DI-06107
AR MARUPS.
DE An autosomal dominant syndrome characterized by progeria-like
DE appearance with little subcutaneous fat and triangular facies, growth
DE retardation, short stature, hypoplastic mandible crowded with
DE unerupted supernumerary teeth, and cerebellar intention tremor.
DR MIM; 619322; phenotype.
DR MedGen; CN296744.
DR MeSH; D019588.
//
ID Marbach-Schaaf neurodevelopmental syndrome.
AC DI-06296
AR MASNS.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE global developmental delay, speech delay, behavioral abnormalities,
DE hypotonia, and movement disorders including dyspraxia, apraxia, and
DE clumsiness. More variable features include high pain tolerance, sleep
DE disturbances, and variable non-specific dysmorphic features.
DR MIM; 619680; phenotype.
DR MedGen; CN305324.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Marden-Walker syndrome.
AC DI-04140
AR MWKS.
DE A syndrome characterized by a mask-like face with blepharophimosis,
DE micrognathia, cleft or high-arched palate, low-set ears, congenital
DE joint contractures, kyphoscoliosis, pectus excavatum or carinatum, and
DE arachnodactyly. Additional features include decreased muscular mass,
DE failure to thrive, renal anomalies, hypoplastic corpus callosum,
DE cerebellar vermis hypoplasia, enlarged cisterna magna, and psychomotor
DE retardation.
SY MWS.
DR MIM; 248700; phenotype.
DR MedGen; C0796033.
DR MeSH; D003240.
DR MeSH; D016569.
DR MeSH; D054119.
//
ID Marfan syndrome.
AC DI-00699
AR MFS.
DE A hereditary disorder of connective tissue that affects the skeletal,
DE ocular, and cardiovascular systems. A wide variety of skeletal
DE abnormalities occurs with Marfan syndrome, including scoliosis, chest
DE wall deformity, tall stature, abnormal joint mobility. Ectopia lentis
DE occurs in most of the patients and is almost always bilateral. The
DE leading cause of premature death is progressive dilation of the aortic
DE root and ascending aorta, causing aortic incompetence and dissection.
DE Neonatal Marfan syndrome is the most severe form resulting in death
DE from cardiorespiratory failure in the first few years of life.
SY Marfan syndrome type 1.
SY MFS1.
DR MIM; 154700; phenotype.
DR MedGen; C0024796.
DR MeSH; D008382.
KW KW-0993:Aortic aneurysm.
//
ID Marfanoid-progeroid-lipodystrophy syndrome.
AC DI-04689
AR MFLS.
DE An autosomal dominant syndrome characterized by congenital
DE lipodystrophy, a progeroid facial appearance due to lack of
DE subcutaneous fat, and variable signs of Marfan syndrome. Clinical
DE features include premature birth with an accelerated linear growth
DE disproportionate to the weight gain, ectopia lentis, aortic
DE dilatation, dural ectasia, and arachnodactyly. Mental and motor
DE development are within normal limits.
SY Marfan lipodystrophy syndrome.
SY Marfanoid-progeroid syndrome.
SY Marfan-progeroid-lipodystrophy syndrome.
DR MIM; 616914; phenotype.
DR MedGen; C4310796.
DR MeSH; D008060.
DR MeSH; D008382.
//
ID Marinesco-Sjoegren syndrome.
AC DI-01938
AR MSS.
DE Autosomal recessive multisystem disorder which is characterized by
DE cerebellar ataxia due to cerebellar atrophy, with Purkinje and granule
DE cell loss and myopathy featuring marked muscle replacement with fat
DE and connective tissue. Other cardinal features include bilateral
DE cataracts, hypergonadotrophic hypogonadism and mild to severe
DE intellectual disability. Skeletal abnormalities, short stature,
DE dysarthria, strabismus and nystagmus are also frequent findings.
DE Mutational inactivation of this protein may result in ER stress-
DE induced cell death signaling or malfunctioning chaperone machineries
DE that mishandle client proteins which are critical for the organs
DE targeted in MSS.
DR MIM; 248800; phenotype.
DR MedGen; C0024814.
//
ID Marshall syndrome.
AC DI-01939
AR MRSHS.
DE An autosomal dominant disorder characterized by ocular abnormalities,
DE deafness, craniofacial anomalies, and anhidrotic ectodermal dysplasia.
DE Clinical features include short stature; flat or retruded midface with
DE short, depressed nose, flat nasal bridge and anteverted nares; cleft
DE palate with or without the Pierre Robin sequence; appearance of large
DE eyes with ocular hypertelorism; cataracts, either congenital or
DE juvenile; esotropia; high myopia; sensorineural hearing loss;
DE spondyloepiphyseal abnormalities; calcification of the falx cerebri;
DE ectodermal abnormalities, including defects in sweating and dental
DE structures.
DR MIM; 154780; phenotype.
DR MedGen; C0265235.
DR MeSH; D002386.
DR MeSH; D004476.
DR MeSH; D006319.
DR MeSH; D009216.
DR MeSH; D019465.
KW KW-0038:Ectodermal dysplasia.
KW KW-0209:Deafness.
KW KW-0898:Cataract.
//
ID Marshall-Smith syndrome.
AC DI-03505
AR MRSHSS.
DE A distinct malformation syndrome characterized by accelerated skeletal
DE maturation, relative failure to thrive, respiratory difficulties,
DE intellectual disability, and unusual facies, including prominent
DE forehead, shallow orbits, blue sclerae, depressed nasal bridge, and
DE micrognathia. Additional skeletal findings include long and thin
DE tubular bones, broad middle phalanges with relatively narrow distal
DE phalanges, and scoliosis. Inheritance is autosomal dominant.
SY MSS.
DR MIM; 602535; phenotype.
DR MedGen; C0265211.
DR MeSH; D001848.
DR MeSH; D019465.
//
ID Marsili syndrome.
AC DI-05171
AR MARSIS.
DE An autosomal dominant disorder characterized by congenital pain
DE insensitivity. Painless cutaneous thermal burns and bone fractures are
DE present in affected individuals. Corneal reflex is absent, sweating is
DE decreased or absent. Patients have normal cognitive abilities, and
DE display no evidence of distal weakness.
SY Congenital analgesia, autosomal dominant.
SY Insensitivity to pain, congenital, autosomal dominant.
DR MIM; 147430; phenotype.
DR MedGen; C1840219.
DR MeSH; D000699.
//
ID Martin-Probst syndrome.
AC DI-03524
AR MRXSMP.
DE A rare neurodevelopmental disorder characterized by intellectual
DE disability, sensorineural hearing loss, short stature and craniofacial
DE dysmorphisms. Patients also exhibit abnormal teeth, widely spaced
DE nipples, abnormal dermatoglyphics, renal insufficiency, and impaired
DE haematopoiesis.
DR MIM; 300519; phenotype.
DR MedGen; C1845285.
DR MeSH; D038901.
KW KW-0209:Deafness.
KW KW-0991:Intellectual disability.
//
ID Martsolf syndrome 1.
AC DI-01940
AR MARTS1.
DE An autosomal recessive disease characterized by congenital cataracts,
DE intellectual disability, and hypogonadism.
SY MARTS.
SY Martsolf syndrome.
DR MIM; 212720; phenotype.
DR MedGen; C0796037.
DR MeSH; D002386.
DR MeSH; D007006.
DR MeSH; D008607.
KW KW-0898:Cataract.
KW KW-0991:Intellectual disability.
//
ID Martsolf syndrome 2.
AC DI-06162
AR MARTS2.
DE An autosomal recessive disorder characterized by congenital cataracts,
DE mildly to severely impaired intellectual development, and facial
DE dysmorphism. Other features include brain malformations, microcephaly,
DE and hypogonadism-hypogenitalism.
DR MIM; 619420; phenotype.
DR MedGen; CN299633.
DR MeSH; D002386.
DR MeSH; D007006.
DR MeSH; D008607.
KW KW-0898:Cataract.
KW KW-0991:Intellectual disability.
//
ID MASA syndrome.
AC DI-00707
AR MASA.
DE An X-linked recessive syndrome with a highly variable clinical
DE spectrum. Main clinical features include spasticity and hyperreflexia
DE of lower limbs, shuffling gait, intellectual disability, aphasia and
DE adducted thumbs. The features of spasticity have been referred to as
DE complicated spastic paraplegia type 1 (SPG1). Some patients manifest
DE corpus callosum hypoplasia and hydrocephalus. Inter- and intrafamilial
DE variability is very wide, such that patients with hydrocephalus, MASA,
DE SPG1, and agenesis of corpus callosum can be present within the same
DE family.
SY Corpus callosum hypoplasia-psychomotor retardation, adducted thumbs-spastic paraparesis-hydrocephalus.
SY CRASH.
DR MIM; 303350; phenotype.
DR MedGen; C0795953.
DR MeSH; D008607.
DR MeSH; D010264.
KW KW-0890:Hereditary spastic paraplegia.
KW KW-0991:Intellectual disability.
//
ID MASP2 deficiency.
AC DI-03105
AR MASPD.
DE A disorder that results in autoimmune manifestations, recurrent severe
DE infections, and chronic inflammatory disease.
SY Defect in lectin complement activation pathway, 2.
SY LCAPD2.
DR MIM; 613791; phenotype.
DR MedGen; C3151085.
DR MeSH; D007154.
//
ID Mastocytosis, cutaneous.
AC DI-05277
AR MASTC.
DE A form of mastocytosis, a heterogeneous group of disorders associated
DE with abnormal proliferation and accumulation of mast cells in various
DE tissues, especially in the skin and hematopoietic organs. MASTC is an
DE autosomal dominant form characterized by macules, papules, nodules, or
DE diffuse infiltration of the skin, often associated with localized
DE hyperpigmentation. Gentle rubbing of the lesions induces histamine
DE release from mechanically activated mast cells, causing local wheals,
DE erythema, and often pruritus, a phenomenon termed Darier sign.
SY Mastocytosis, diffuse cutaneous.
SY Mastocytosis, maculopapular cutaneous.
SY Urticaria pigmentosa.
DR MIM; 154800; phenotype.
DR MedGen; C0024899.
DR MedGen; C0042111.
DR MeSH; D014582.
//
ID Mastocytosis, systemic.
AC DI-05278
AR MASTSYS.
DE A severe form of mastocytosis characterized by abnormal proliferation
DE and accumulation of mast cells in several organs, resulting in a
DE systemic disease that may affect bone, gastrointestinal tract,
DE lymphatics, spleen, and liver. In some cases, it is associated with a
DE clonal hematologic non-mast-cell lineage disease, such as a
DE myelodysplastic or myeloproliferative disorder. It can also lead to
DE mast cell leukemia, which carries a high risk of mortality.
SY Mast cell disease.
SY Mast-cell disease.
SY Mast cell leukemia.
SY Mastocytosis, indolent.
SY Mastocytosis with associated hematologic disorder.
DR MIM; 154800; phenotype.
DR MedGen; C0024899.
DR MeSH; D008415.
//
ID Maternal acute fatty liver of pregnancy.
AC DI-01942
AR AFLP.
DE Severe maternal illness occurring during pregnancies with affected
DE fetuses. This disease is associated with LCHAD deficiency and
DE characterized by sudden unexplained infant death or hypoglycemia and
DE abnormal liver enzymes (Reye-like syndrome).
DR MIM; 609016; phenotype.
//
ID Maturity-onset diabetes of the young 1.
AC DI-01943
AR MODY1.
DE A form of diabetes that is characterized by an autosomal dominant mode
DE of inheritance, onset in childhood or early adulthood (usually before
DE 25 years of age), a primary defect in insulin secretion and frequent
DE insulin-independence at the beginning of the disease.
SY Mild juvenile diabetes mellitus.
SY MODY-1.
SY MODY type 1.
DR MIM; 125850; phenotype.
DR MedGen; C1852093.
DR MeSH; D003924.
KW KW-0219:Diabetes mellitus.
//
ID Maturity-onset diabetes of the young 10.
AC DI-02786
AR MODY10.
DE A form of diabetes that is characterized by an autosomal dominant mode
DE of inheritance, onset in childhood or early adulthood (usually before
DE 25 years of age), a primary defect in insulin secretion and frequent
DE insulin-independence at the beginning of the disease.
SY MODY-10.
SY MODY type 10.
DR MIM; 613370; phenotype.
DR MedGen; C3150617.
DR MeSH; D003924.
KW KW-0219:Diabetes mellitus.
//
ID Maturity-onset diabetes of the young 11.
AC DI-02787
AR MODY11.
DE A form of diabetes that is characterized by an autosomal dominant mode
DE of inheritance, onset in childhood or early adulthood (usually before
DE 25 years of age), a primary defect in insulin secretion and frequent
DE insulin-independence at the beginning of the disease.
SY MODY-11.
SY MODY type 11.
DR MIM; 613375; phenotype.
DR MedGen; C3150618.
DR MeSH; D003924.
KW KW-0219:Diabetes mellitus.
//
ID Maturity-onset diabetes of the young 13.
AC DI-04404
AR MODY13.
DE A form of diabetes that is characterized by an autosomal dominant mode
DE of inheritance, onset in childhood or early adulthood (usually before
DE 25 years of age), a primary defect in insulin secretion and frequent
DE insulin-independence at the beginning of the disease.
SY Maturity-onset diabetes of the young, type 13.
SY MODY type 13.
DR MIM; 616329; phenotype.
DR MedGen; CN229628.
DR MeSH; D003924.
KW KW-0219:Diabetes mellitus.
//
ID Maturity-onset diabetes of the young 14.
AC DI-04501
AR MODY14.
DE A form of diabetes that is characterized by an autosomal dominant mode
DE of inheritance, onset in childhood or early adulthood (usually before
DE 25 years of age), a primary defect in insulin secretion and frequent
DE insulin-independence at the beginning of the disease.
SY Maturity-onset diabetes of the young, type 14.
DR MIM; 616511; phenotype.
DR MedGen; CN232143.
DR MeSH; D003924.
KW KW-0219:Diabetes mellitus.
//
ID Maturity-onset diabetes of the young 2.
AC DI-01944
AR MODY2.
DE A form of diabetes that is characterized by an autosomal dominant mode
DE of inheritance, onset in childhood or early adulthood (usually before
DE 25 years of age), a primary defect in insulin secretion and frequent
DE insulin-independence at the beginning of the disease.
SY MODY-2.
SY MODY glucokinase-related.
SY MODY type 2.
DR MIM; 125851; phenotype.
DR MedGen; C0085207.
DR MedGen; C1841962.
DR MeSH; D003924.
KW KW-0219:Diabetes mellitus.
//
ID Maturity-onset diabetes of the young 3.
AC DI-01945
AR MODY3.
DE A form of diabetes that is characterized by an autosomal dominant mode
DE of inheritance, onset in childhood or early adulthood (usually before
DE 25 years of age), a primary defect in insulin secretion and frequent
DE insulin-independence at the beginning of the disease.
SY MODY-3.
SY MODY type 3.
DR MIM; 600496; phenotype.
DR MedGen; C1838100.
DR MeSH; D003924.
KW KW-0219:Diabetes mellitus.
//
ID Maturity-onset diabetes of the young 4.
AC DI-01946
AR MODY4.
DE A form of diabetes that is characterized by an autosomal dominant mode
DE of inheritance, onset in childhood or early adulthood (usually before
DE 25 years of age), a primary defect in insulin secretion and frequent
DE insulin-independence at the beginning of the disease.
SY MODY-4.
SY MODY type 4.
DR MIM; 606392; phenotype.
DR MedGen; C1833382.
DR MeSH; D003924.
KW KW-0219:Diabetes mellitus.
//
ID Maturity-onset diabetes of the young 6.
AC DI-01947
AR MODY6.
DE A form of diabetes that is characterized by an autosomal dominant mode
DE of inheritance, onset in childhood or early adulthood (usually before
DE 25 years of age), a primary defect in insulin secretion and frequent
DE insulin-independence at the beginning of the disease.
SY MODY-6.
SY MODY type 6.
DR MIM; 606394; phenotype.
DR MedGen; C1853371.
DR MeSH; D003924.
KW KW-0219:Diabetes mellitus.
//
ID Maturity-onset diabetes of the young 7.
AC DI-01948
AR MODY7.
DE A form of diabetes that is characterized by an autosomal dominant mode
DE of inheritance, onset in childhood or early adulthood (usually before
DE 25 years of age), a primary defect in insulin secretion and frequent
DE insulin-independence at the beginning of the disease.
SY MODY-7.
SY MODY type 7.
DR MIM; 610508; phenotype.
DR MedGen; C1864839.
DR MeSH; D003924.
KW KW-0219:Diabetes mellitus.
//
ID Maturity-onset diabetes of the young 8 with exocrine dysfunction.
AC DI-01949
AR MODY8.
DE An autosomal dominant form of diabetes characterized by a primary
DE defect in insulin secretion, exocrine pancreatic dysfunction, altered
DE pancreatic morphology, recurrent abdominal pain, and fecal elastase
DE deficiency. Disease onset is at less than 25 years of age.
SY Diabetes and pancreatic exocrine dysfunction syndrome.
SY DPED.
SY MODY-8.
SY MODY type 8.
DR MIM; 609812; phenotype.
DR MedGen; C1853297.
DR MeSH; D003924.
KW KW-0219:Diabetes mellitus.
//
ID Maturity-onset diabetes of the young 9.
AC DI-01950
AR MODY9.
DE A form of diabetes that is characterized by an autosomal dominant mode
DE of inheritance, onset in childhood or early adulthood (usually before
DE 25 years of age), a primary defect in insulin secretion and frequent
DE insulin-independence at the beginning of the disease.
SY MODY-9.
SY MODY type 9.
DR MIM; 612225; phenotype.
DR MedGen; C2677132.
DR MeSH; D003924.
KW KW-0219:Diabetes mellitus.
//
ID McCune-Albright syndrome.
AC DI-01952
AR MAS.
DE Characterized by polyostotic fibrous dysplasia, cafe-au-lait lesions,
DE and a variety of endocrine disorders, including precocious puberty,
DE hyperthyroidism, hypercortisolism, growth hormone excess, and
DE hyperprolactinemia. The mutations producing MAS lead to constitutive
DE activation of GS alpha.
DR MIM; 174800; phenotype.
DR MedGen; C0016065.
DR MedGen; C0242292.
//
ID McKusick-Kaufman syndrome.
AC DI-01953
AR MKKS.
DE Autosomal recessive developmental disorder. It is characterized by
DE hydrometrocolpos, postaxial polydactyly and congenital heart defects.
DR MIM; 236700; phenotype.
DR MedGen; C0948368.
//
ID McLeod syndrome.
AC DI-01954
AR MLS.
DE A multisystem disorder characterized by the absence of red blood cell
DE Kx antigen, weak expression of Kell red blood cell antigens,
DE acanthocytosis, and compensated hemolysis. Most carriers of this
DE McLeod blood group phenotype have acanthocytosis and elevated serum
DE creatine kinase levels and are prone to develop a severe neurologic
DE disorder resembling Huntington disease. Additional symptoms include
DE generalized seizures, neuromuscular symptoms leading to weakness and
DE atrophy, and cardiomyopathy mainly manifesting with atrial
DE fibrillation, malignant arrhythmias, and dilated cardiomyopathy.
SY McLeod phenotype.
SY McLeod syndrome with chronic granulomatous disease.
SY Neuroacanthocytosis McLeod type.
DR MIM; 300842; phenotype.
DR MedGen; C3151853.
DR MedGen; CN069344.
DR MeSH; D054546.
//
ID Meacham syndrome.
AC DI-01955
AR MEACHS.
DE Rare sporadically occurring multiple malformation syndrome
DE characterized by male pseudohermaphroditism with abnormal internal
DE female genitalia comprising a uterus and double or septate vagina,
DE complex congenital heart defect and diaphragmatic abnormalities.
DR MIM; 608978; phenotype.
DR MedGen; C1837026.
//
ID Meckel syndrome 1.
AC DI-00700
AR MKS1.
DE A disorder characterized by a combination of renal cysts and variably
DE associated features including developmental anomalies of the central
DE nervous system (typically encephalocele), hepatic ductal dysplasia and
DE cysts, and polydactyly.
SY Dysencephalia splanchnocystica.
SY Gruber syndrome.
SY Meckel-Gruber syndrome.
SY MES.
DR MIM; 249000; phenotype.
DR MedGen; C0265215.
DR MedGen; CN077329.
DR MeSH; D002925.
DR MeSH; D004677.
DR MeSH; D007690.
KW KW-0981:Meckel syndrome.
//
ID Meckel syndrome 10.
AC DI-03233
AR MKS10.
DE A disorder characterized by a combination of renal cysts and variably
DE associated features including developmental anomalies of the central
DE nervous system (typically encephalocele), hepatic ductal dysplasia and
DE cysts, and polydactyly.
DR MIM; 614175; phenotype.
DR MedGen; C3280036.
DR MeSH; D002925.
DR MeSH; D004677.
DR MeSH; D007690.
KW KW-0981:Meckel syndrome.
//
ID Meckel syndrome 11.
AC DI-03873
AR MKS11.
DE A disorder characterized by a combination of renal cysts and variably
DE associated features including developmental anomalies of the central
DE nervous system (typically encephalocele), hepatic ductal dysplasia and
DE cysts, and polydactyly.
DR MIM; 615397; phenotype.
DR MedGen; C3809352.
DR MedGen; CN179854.
DR MeSH; D002925.
DR MeSH; D004677.
DR MeSH; D007690.
KW KW-0981:Meckel syndrome.
//
ID Meckel syndrome 12.
AC DI-04349
AR MKS12.
DE A form of Meckel syndrome, a disorder characterized by a combination
DE of renal cysts and variably associated features including
DE developmental anomalies of the central nervous system (typically
DE encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.
DR MIM; 616258; phenotype.
DR MedGen; CN228389.
DR MeSH; D002925.
DR MeSH; D004677.
DR MeSH; D007690.
KW KW-0981:Meckel syndrome.
//
ID Meckel syndrome 13.
AC DI-05035
AR MKS13.
DE A form of Meckel syndrome, a disorder characterized by a combination
DE of renal cysts and variably associated features including
DE developmental anomalies of the central nervous system (typically
DE encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.
DR MIM; 617562; phenotype.
DR MedGen; CN317534.
DR MeSH; D002925.
DR MeSH; D004677.
DR MeSH; D007690.
KW KW-0981:Meckel syndrome.
//
ID Meckel syndrome 2.
AC DI-02862
AR MKS2.
DE A disorder characterized by a combination of renal cysts and variably
DE associated features including developmental anomalies of the central
DE nervous system (typically encephalocele), hepatic ductal dysplasia and
DE cysts, and polydactyly.
DR MIM; 603194; phenotype.
DR MedGen; C1864148.
DR MeSH; D002925.
DR MeSH; D004677.
DR MeSH; D007690.
KW KW-0981:Meckel syndrome.
//
ID Meckel syndrome 3.
AC DI-00701
AR MKS3.
DE A disorder characterized by a combination of renal cysts and variably
DE associated features including developmental anomalies of the central
DE nervous system (typically encephalocele), hepatic ductal dysplasia and
DE cysts, and polydactyly.
DR MIM; 607361; phenotype.
DR MedGen; C1846357.
DR MeSH; D002925.
DR MeSH; D004677.
DR MeSH; D007690.
KW KW-0981:Meckel syndrome.
//
ID Meckel syndrome 4.
AC DI-00702
AR MKS4.
DE A disorder characterized by a combination of renal cysts and variably
DE associated features including developmental anomalies of the central
DE nervous system (typically encephalocele), hepatic ductal dysplasia and
DE cysts, and polydactyly.
DR MIM; 611134; phenotype.
DR MedGen; C1970161.
DR MedGen; C1970162.
DR MeSH; D002925.
DR MeSH; D004677.
DR MeSH; D007690.
KW KW-0981:Meckel syndrome.
//
ID Meckel syndrome 5.
AC DI-00703
AR MKS5.
DE A disorder characterized by a combination of renal cysts and variably
DE associated features including developmental anomalies of the central
DE nervous system (typically encephalocele), hepatic ductal dysplasia and
DE cysts, and polydactyly.
DR MIM; 611561; phenotype.
DR MedGen; C1969052.
DR MeSH; D002925.
DR MeSH; D004677.
DR MeSH; D007690.
KW KW-0981:Meckel syndrome.
//
ID Meckel syndrome 6.
AC DI-00704
AR MKS6.
DE A disorder characterized by a combination of renal cysts and variably
DE associated features including developmental anomalies of the central
DE nervous system (typically encephalocele), hepatic ductal dysplasia and
DE cysts, and polydactyly.
DR MIM; 612284; phenotype.
DR MedGen; C2676790.
DR MeSH; D002925.
DR MeSH; D004677.
DR MeSH; D007690.
KW KW-0981:Meckel syndrome.
//
ID Meckel syndrome 7.
AC DI-02861
AR MKS7.
DE A disorder characterized by a combination of renal cysts and variably
DE associated features including developmental anomalies of the central
DE nervous system (typically encephalocele), hepatic ductal dysplasia and
DE cysts, and polydactyly.
DR MIM; 267010; phenotype.
DR MedGen; C2673885.
DR MeSH; D002925.
DR MeSH; D004677.
DR MeSH; D007690.
KW KW-0981:Meckel syndrome.
//
ID Meckel syndrome 8.
AC DI-03026
AR MKS8.
DE A disorder characterized by a combination of renal cysts and variably
DE associated features including developmental anomalies of the central
DE nervous system (typically encephalocele), hepatic ductal dysplasia and
DE cysts, and polydactyly.
DR MIM; 613885; phenotype.
DR MedGen; CN077711.
DR MeSH; D002925.
DR MeSH; D004677.
DR MeSH; D007690.
KW KW-0981:Meckel syndrome.
//
ID Meckel syndrome 9.
AC DI-03221
AR MKS9.
DE A disorder characterized by a combination of renal cysts and variably
DE associated features including developmental anomalies of the central
DE nervous system (typically encephalocele), hepatic ductal dysplasia and
DE cysts, and polydactyly.
DR MIM; 614209; phenotype.
DR MedGen; C3280155.
DR MeSH; D002925.
DR MeSH; D004677.
DR MeSH; D007690.
KW KW-0981:Meckel syndrome.
//
ID Meconium ileus.
AC DI-03452
AR MECIL.
DE A condition characterized by intestinal obstruction due to inspissated
DE meconium in the distal ileum and cecum, which develops in utero and
DE presents shortly after birth as a failure to pass meconium. Meconium
DE ileus is a known clinical manifestation of cystic fibrosis.
DR MIM; 614665; phenotype.
DR MedGen; C0270246.
DR MedGen; C2939175.
DR MeSH; D045823.
//
ID Medullary thyroid carcinoma.
AC DI-01957
AR MTC.
DE Rare tumor derived from the C cells of the thyroid. Three hereditary
DE forms are known, that are transmitted in an autosomal dominant
DE fashion: (a) multiple neoplasia type 2A (MEN2A), (b) multiple
DE neoplasia type IIB (MEN2B) and (c) familial MTC (FMTC), which occurs
DE in 25-30% of MTC cases and where MTC is the only clinical
DE manifestation.
DR MIM; 155240; phenotype.
DR MedGen; C1833921.
//
ID Medulloblastoma.
AC DI-01958
AR MDB.
DE Malignant, invasive embryonal tumor of the cerebellum with a
DE preferential manifestation in children.
DR MIM; 155255; phenotype.
DR MedGen; C0025149.
DR MedGen; C0751291.
DR MedGen; C1334970.
//
ID Meester-Loeys syndrome.
AC DI-04917
AR MRLS.
DE An X-linked, thoracic aortic aneurysm syndrome characterized by early-
DE onset, severe aortic aneurysm and dissection. Other recurrent findings
DE include hypertelorism, pectus deformity, joint hypermobility,
DE contractures, and mild skeletal dysplasia.
DR MIM; 300989; phenotype.
DR MedGen; CN239566.
DR MeSH; D017545.
KW KW-0993:Aortic aneurysm.
//
ID Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations.
AC DI-05456
AR MCCCHCM.
DE An autosomal dominant neurodevelopmental disorder with onset in
DE infancy. MCCCHCM is characterized by global developmental delay,
DE impaired intellectual development, poor or absent speech, unsteady
DE gait, ataxia, inability to walk, and variable brain abnormalities.
DE Seizures and autistic features are observed in some patients. Brain
DE imaging findings include an enlarged corpus callosum in the absence of
DE megalencephaly, cerebellar hypoplasia, ventricular dilation, gyral
DE abnormalities, and cortical malformations.
DR MIM; 618273; phenotype.
DR MedGen; CN258070.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Megabladder, congenital.
AC DI-05721
AR MGBL.
DE An autosomal dominant congenital anomaly characterized by a massively
DE dilated urinary bladder with disrupted smooth muscle in the bladder
DE wall. MGBL is a sex-limited trait with 95% male predominance, and
DE incomplete penetrance. Affected males frequently die in utero.
DR MIM; 618719; phenotype.
DR MedGen; CN263070.
DR MeSH; D014564.
//
ID Megacystis-microcolon-intestinal hypoperistalsis syndrome.
AC DI-05709
AR MMIHS.
DE A form of megacystis-microcolon-intestinal hypoperistalsis syndrome, a
DE congenital visceral myopathy primarily affecting females, and
DE characterized by loss of smooth muscle contraction in the bladder and
DE intestine. Affected individuals present at birth with functional
DE obstruction of intestine, microcolon, dilation of bladder, and
DE secondary hydronephrosis. The majority of cases have a fatal outcome
DE due to malnutrition and sepsis, followed by multiorgan failure. MMIHS
DE inheritance is autosomal recessive.
SY Berdon syndrome.
SY Visceral myopathy.
DR MIM; 249210; phenotype.
DR MedGen; CN969967.
DR MeSH; D007418.
//
ID Megacystis-microcolon-intestinal hypoperistalsis syndrome 2.
AC DI-06120
AR MMIHS2.
DE A form of megacystis-microcolon-intestinal hypoperistalsis syndrome, a
DE congenital visceral myopathy primarily affecting females, and
DE characterized by loss of smooth muscle contraction in the bladder and
DE intestine. Affected individuals present at birth with functional
DE obstruction of intestine, microcolon, dilation of bladder, and
DE secondary hydronephrosis. The majority of cases have a fatal outcome
DE due to malnutrition and sepsis, followed by multiorgan failure. MMIHS2
DE inheritance is autosomal recessive.
DR MIM; 619351; phenotype.
DR MedGen; CN296894.
DR MeSH; D007418.
//
ID Megacystis-microcolon-intestinal hypoperistalsis syndrome 3.
AC DI-06129
AR MMIHS3.
DE A form of megacystis-microcolon-intestinal hypoperistalsis syndrome, a
DE congenital visceral myopathy primarily affecting females, and
DE characterized by loss of smooth muscle contraction in the bladder and
DE intestine. Affected individuals present at birth with functional
DE obstruction of intestine, microcolon, dilation of bladder, and
DE secondary hydronephrosis. The majority of cases have a fatal outcome
DE due to malnutrition and sepsis, followed by multiorgan failure. MMIHS3
DE inheritance is autosomal recessive.
DR MIM; 619362; phenotype.
DR MedGen; CN296939.
DR MeSH; D007418.
//
ID Megacystis-microcolon-intestinal hypoperistalsis syndrome 4.
AC DI-06130
AR MMIHS4.
DE A form of megacystis-microcolon-intestinal hypoperistalsis syndrome, a
DE congenital visceral myopathy primarily affecting females, and
DE characterized by loss of smooth muscle contraction in the bladder and
DE intestine. Affected individuals present at birth with functional
DE obstruction of intestine, microcolon, dilation of bladder, and
DE secondary hydronephrosis. The majority of cases have a fatal outcome
DE due to malnutrition and sepsis, followed by multiorgan failure. MMIHS4
DE inheritance is autosomal recessive.
DR MIM; 619365; phenotype.
DR MedGen; CN297340.
DR MeSH; D007418.
//
ID Megacystis-microcolon-intestinal hypoperistalsis syndrome 5.
AC DI-06166
AR MMIHS5.
DE A form of megacystis-microcolon-intestinal hypoperistalsis syndrome, a
DE congenital visceral myopathy primarily affecting females, and
DE characterized by loss of smooth muscle contraction in the bladder and
DE intestine. Affected individuals present at birth with functional
DE obstruction of intestine, microcolon, dilation of bladder, and
DE secondary hydronephrosis. The majority of cases have a fatal outcome
DE due to malnutrition and sepsis, followed by multiorgan failure. MMIHS5
DE is an autosomal dominant form with significant inter- and
DE intrafamilial variability.
DR MIM; 619431; phenotype.
DR MedGen; CN299793.
DR MeSH; D007418.
//
ID Megalencephaly-capillary malformation-polymicrogyria syndrome.
AC DI-03624
AR MCAP.
DE A syndrome characterized by a spectrum of anomalies including primary
DE megalencephaly, prenatal overgrowth, brain and body asymmetry,
DE cutaneous vascular malformations, digital anomalies consisting of
DE syndactyly with or without postaxial polydactyly, connective tissue
DE dysplasia involving the skin, subcutaneous tissue, and joints, and
DE cortical brain malformations, most distinctively polymicrogyria.
SY Macrocephaly-capillary malformation.
SY Macrocephaly-cutis marmorata telangiectatica congenita.
SY MCM.
SY MCMTC.
SY Megalencephaly-capillary malformation syndrome.
SY Megalencephaly-cutis marmorata telangiectatica congenita.
DR MIM; 602501; phenotype.
DR MedGen; C1865285.
DR MeSH; D013684.
DR MeSH; D017445.
DR MeSH; D058627.
//
ID Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1.
AC DI-03625
AR MPPH1.
DE A syndrome characterized by megalencephaly, hydrocephalus, and
DE polymicrogyria; polydactyly may also be seen. There is considerable
DE phenotypic similarity between this disorder and the megalencephaly-
DE capillary malformation syndrome.
SY Megalencephaly mega corpus callosum and complete lack of motor development.
SY Megalencephaly-polymicrogyria-mega corpus callosum syndrome.
SY Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
SY MEG-PMG-MEGACC syndrome.
SY MPPH.
DR MIM; 603387; phenotype.
DR MedGen; C1863924.
DR MeSH; D006849.
DR MeSH; D017689.
DR MeSH; D054220.
DR MeSH; D058627.
//
ID Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2.
AC DI-04183
AR MPPH2.
DE A syndrome characterized by megalencephaly, hydrocephalus, and
DE polymicrogyria; polydactyly may also be seen. There is considerable
DE phenotypic similarity between this disorder and the megalencephaly-
DE capillary malformation syndrome.
DR MIM; 615937; phenotype.
DR MedGen; CN207693.
DR MeSH; D006849.
DR MeSH; D017689.
DR MeSH; D054220.
DR MeSH; D058627.
//
ID Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3.
AC DI-04184
AR MPPH3.
DE A syndrome characterized by megalencephaly, ventriculomegaly that may
DE lead to hydrocephalus, and polymicrogyria; polydactyly may also be
DE seen. There is considerable phenotypic similarity between this
DE disorder and the megalencephaly-capillary malformation syndrome.
DR MIM; 615938; phenotype.
DR MedGen; CN207694.
DR MeSH; D006849.
DR MeSH; D017689.
DR MeSH; D054220.
DR MeSH; D058627.
//
ID Megaloblastic anemia due to dihydrofolate reductase deficiency.
AC DI-03110
AR DHFRD.
DE An inborn error of metabolism, characterized by megaloblastic anemia
DE and/or pancytopenia, severe cerebral folate deficiency, and cerebral
DE tetrahydrobiopterin deficiency. Clinical features include variable
DE neurologic symptoms, ranging from severe developmental delay and
DE generalized seizures in infancy, to childhood absence epilepsy with
DE learning difficulties, to lack of symptoms.
SY DHFR deficiency.
DR MIM; 613839; phenotype.
DR MedGen; C3151205.
DR MeSH; D000749.
DR MeSH; D008661.
//
ID Megaloblastic anemia, folate-responsive.
AC DI-06089
AR MEGAF.
DE An autosomal recessive metabolic disorder characterized by
DE megaloblastic anemia resulting from decreased folate transport into
DE erythrocytes. Disease manifestations include hemolytic anemia,
DE hyperhomocysteinemia, and low vitamin B12. Serum folate levels are
DE normal, but erythrocyte folate levels are decreased. Treatment with
DE oral folate corrects the anemia and normalizes homocysteine.
SY Folate level in erythrocytes.
DR MIM; 601775; phenotype.
DR MedGen; C1866295.
DR MeSH; D000749.
DR MeSH; D008661.
KW KW-0360:Hereditary hemolytic anemia.
//
ID Megalocornea 1, X-linked.
AC DI-03435
AR MGC1.
DE An eye disorder in which the corneal diameter is bilaterally enlarged
DE (greater than 13 mm) without an increase in intraocular pressure. It
DE may also be referred to as anterior megalophthalmos, since the entire
DE anterior segment is larger than normal. Features of megalocornea in
DE addition to a deep anterior chamber include astigmatic refractive
DE errors, atrophy of the iris stroma, miosis secondary to decreased
DE function of the dilator muscle, iridodonesis, and tremulousness,
DE subluxation, or dislocation of the lens. Whereas most affected
DE individuals exhibit normal ocular function, complications include
DE cataract development and glaucoma following lenticular dislocation or
DE subluxation.
SY Megalocornea.
SY MGCN.
DR MIM; 309300; phenotype.
DR MedGen; C0344530.
DR MeSH; D003316.
//
ID MEHMO syndrome.
AC DI-05173
AR MEHMO.
DE An X-linked recessive syndrome characterized by intellectual
DE disability, epileptic seizures, hypogonadism and hypogenitalism,
DE microcephaly, and obesity.
SY MRXS20.
SY MRXS25.
SY MRXSBRK.
DR MIM; 300148; phenotype.
DR MedGen; C1846278.
DR MeSH; D038901.
KW KW-0550:Obesity.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Meier-Gorlin syndrome 1.
AC DI-03043
AR MGORS1.
DE A syndrome characterized by bilateral microtia, aplasia/hypoplasia of
DE the patellae, and severe intrauterine and postnatal growth retardation
DE with short stature and poor weight gain. Additional clinical findings
DE include anomalies of cranial sutures, microcephaly, apparently low-set
DE and simple ears, microstomia, full lips, highly arched or cleft
DE palate, micrognathia, genitourinary tract anomalies, and various
DE skeletal anomalies. While almost all cases have primordial dwarfism
DE with substantial prenatal and postnatal growth retardation, not all
DE cases have microcephaly, and microtia and absent/hypoplastic patella
DE are absent in some. Despite the presence of microcephaly, intellect is
DE usually normal.
SY Ear patella short stature syndrome.
SY EPS.
SY Microtia absent patellae micrognathia syndrome.
DR MIM; 224690; phenotype.
DR MedGen; C1868684.
DR MeSH; D006130.
DR MeSH; D008844.
KW KW-0242:Dwarfism.
//
ID Meier-Gorlin syndrome 2.
AC DI-03044
AR MGORS2.
DE A syndrome characterized by bilateral microtia, aplasia/hypoplasia of
DE the patellae, and severe intrauterine and postnatal growth retardation
DE with short stature and poor weight gain. Additional clinical findings
DE include anomalies of cranial sutures, microcephaly, apparently low-set
DE and simple ears, microstomia, full lips, highly arched or cleft
DE palate, micrognathia, genitourinary tract anomalies, and various
DE skeletal anomalies. While almost all cases have primordial dwarfism
DE with substantial prenatal and postnatal growth retardation, not all
DE cases have microcephaly, and microtia and absent/hypoplastic patella
DE are absent in some. Despite the presence of microcephaly, intellect is
DE usually normal.
DR MIM; 613800; phenotype.
DR MedGen; C3151097.
DR MeSH; D006130.
DR MeSH; D008844.
KW KW-0242:Dwarfism.
//
ID Meier-Gorlin syndrome 3.
AC DI-03045
AR MGORS3.
DE A syndrome characterized by bilateral microtia, aplasia/hypoplasia of
DE the patellae, and severe intrauterine and postnatal growth retardation
DE with short stature and poor weight gain. Additional clinical findings
DE include anomalies of cranial sutures, microcephaly, apparently low-set
DE and simple ears, microstomia, full lips, highly arched or cleft
DE palate, micrognathia, genitourinary tract anomalies, and various
DE skeletal anomalies. While almost all cases have primordial dwarfism
DE with substantial prenatal and postnatal growth retardation, not all
DE cases have microcephaly, and microtia and absent/hypoplastic patella
DE are absent in some. Despite the presence of microcephaly, intellect is
DE usually normal.
DR MIM; 613803; phenotype.
DR MedGen; C3151113.
DR MeSH; D006130.
DR MeSH; D008844.
KW KW-0242:Dwarfism.
//
ID Meier-Gorlin syndrome 4.
AC DI-03046
AR MGORS4.
DE A syndrome characterized by bilateral microtia, aplasia/hypoplasia of
DE the patellae, and severe intrauterine and postnatal growth retardation
DE with short stature and poor weight gain. Additional clinical findings
DE include anomalies of cranial sutures, microcephaly, apparently low-set
DE and simple ears, microstomia, full lips, highly arched or cleft
DE palate, micrognathia, genitourinary tract anomalies, and various
DE skeletal anomalies. While almost all cases have primordial dwarfism
DE with substantial prenatal and postnatal growth retardation, not all
DE cases have microcephaly, and microtia and absent/hypoplastic patella
DE are absent in some. Despite the presence of microcephaly, intellect is
DE usually normal.
DR MIM; 613804; phenotype.
DR MedGen; C3151120.
DR MeSH; D006130.
DR MeSH; D008844.
KW KW-0242:Dwarfism.
//
ID Meier-Gorlin syndrome 5.
AC DI-03047
AR MGORS5.
DE A syndrome characterized by bilateral microtia, aplasia/hypoplasia of
DE the patellae, and severe intrauterine and postnatal growth retardation
DE with short stature and poor weight gain. Additional clinical findings
DE include anomalies of cranial sutures, microcephaly, apparently low-set
DE and simple ears, microstomia, full lips, highly arched or cleft
DE palate, micrognathia, genitourinary tract anomalies, and various
DE skeletal anomalies. While almost all cases have primordial dwarfism
DE with substantial prenatal and postnatal growth retardation, not all
DE cases have microcephaly, and microtia and absent/hypoplastic patella
DE are absent in some. Despite the presence of microcephaly, intellect is
DE usually normal.
DR MIM; 613805; phenotype.
DR MedGen; C3151126.
DR MeSH; D006130.
DR MeSH; D008844.
KW KW-0242:Dwarfism.
//
ID Meier-Gorlin syndrome 6.
AC DI-04664
AR MGORS6.
DE A form of Meier-Gorlin syndrome, a syndrome characterized by bilateral
DE microtia, aplasia/hypoplasia of the patellae, and severe intrauterine
DE and postnatal growth retardation with short stature and poor weight
DE gain. Additional clinical findings include anomalies of cranial
DE sutures, microcephaly, apparently low-set and simple ears,
DE microstomia, full lips, highly arched or cleft palate, micrognathia,
DE genitourinary tract anomalies, and various skeletal anomalies. While
DE almost all cases have primordial dwarfism with substantial prenatal
DE and postnatal growth retardation, not all cases have microcephaly, and
DE microtia and absent/hypoplastic patella are absent in some. Despite
DE the presence of microcephaly, intellect is usually normal.
DR MIM; 616835; phenotype.
DR MedGen; CN235347.
DR MeSH; D006130.
DR MeSH; D008844.
KW KW-0242:Dwarfism.
//
ID Meier-Gorlin syndrome 7.
AC DI-04797
AR MGORS7.
DE A form of Meier-Gorlin syndrome, a syndrome characterized by bilateral
DE microtia, aplasia/hypoplasia of the patellae, and severe intrauterine
DE and postnatal growth retardation with short stature and poor weight
DE gain. Additional clinical findings include anomalies of cranial
DE sutures, microcephaly, apparently low-set and simple ears,
DE microstomia, full lips, highly arched or cleft palate, micrognathia,
DE genitourinary tract anomalies, and various skeletal anomalies. While
DE almost all cases have primordial dwarfism with substantial prenatal
DE and postnatal growth retardation, not all cases have microcephaly, and
DE microtia and absent/hypoplastic patella are absent in some. Despite
DE the presence of microcephaly, intellect is usually normal. MGORS7
DE inheritance is autosomal recessive.
DR MIM; 617063; phenotype.
DR MedGen; CN237807.
DR MeSH; D006130.
DR MeSH; D008844.
KW KW-0242:Dwarfism.
//
ID Meier-Gorlin syndrome 8.
AC DI-05038
AR MGORS8.
DE A form of Meier-Gorlin syndrome, a syndrome characterized by bilateral
DE microtia, aplasia/hypoplasia of the patellae, and severe intrauterine
DE and postnatal growth retardation with short stature and poor weight
DE gain. Additional clinical findings include anomalies of cranial
DE sutures, microcephaly, apparently low-set and simple ears,
DE microstomia, full lips, highly arched or cleft palate, micrognathia,
DE genitourinary tract anomalies, and various skeletal anomalies. While
DE almost all cases have primordial dwarfism with substantial prenatal
DE and postnatal growth retardation, not all cases have microcephaly, and
DE microtia and absent/hypoplastic patella are absent in some. Despite
DE the presence of microcephaly, intellect is usually normal. MGORS8
DE inheritance is autosomal recessive.
DR MIM; 617564; phenotype.
DR MedGen; CN314201.
DR MeSH; D006130.
DR MeSH; D008844.
KW KW-0242:Dwarfism.
//
ID Melanocytic nevus syndrome, congenital.
AC DI-04099
AR CMNS.
DE A syndrome characterized by congenital pigmentary skin lesions which
DE can occur at any site and can cover most of the body surface. These
DE lesions may or may not be hairy. Congenital melanocytic nevi are
DE associated with neuromelanosis (the presence of melanin-producing
DE cells within the brain parenchyma or leptomeninges). Less commonly
DE they are associated with malignant melanoma in childhood, both in the
DE skin and the central nervous system. CMNS patients also tend to have a
DE characteristic facial appearance, including wide or prominent
DE forehead, periorbital fullness, small short nose with narrow nasal
DE bridge, round face, full cheeks, prominent premaxilla, and everted
DE lower lip.
SY Giant congenital pigmented nevus.
SY Giant pigmented hairy nevus.
SY GPHN.
SY Pigmented moles.
DR MIM; 137550; phenotype.
DR MedGen; C1842036.
DR MeSH; D009508.
//
ID Melanoma, cutaneous malignant 10.
AC DI-04136
AR CMM10.
DE A malignant neoplasm of melanocytes, arising de novo or from a pre-
DE existing benign nevus, which occurs most often in the skin but also
DE may involve other sites.
DR MIM; 615848; phenotype.
DR MedGen; CN189144.
DR MeSH; D008545.
//
ID Melanoma, cutaneous malignant 2.
AC DI-01459
AR CMM2.
DE A malignant neoplasm of melanocytes, arising de novo or from a pre-
DE existing benign nevus, which occurs most often in the skin but also
DE may involve other sites.
SY Cutaneous malignant melanoma 2.
DR MIM; 155601; phenotype.
DR MedGen; C1835044.
DR MeSH; D008545.
//
ID Melanoma, cutaneous malignant 3.
AC DI-01460
AR CMM3.
DE A malignant neoplasm of melanocytes, arising de novo or from a pre-
DE existing benign nevus, which occurs most often in the skin but also
DE may involve other sites.
SY Cutaneous malignant melanoma 3.
DR MIM; 609048; phenotype.
DR MedGen; C1836892.
DR MeSH; D008545.
//
ID Melanoma, cutaneous malignant 5.
AC DI-02516
AR CMM5.
DE A malignant neoplasm of melanocytes, arising de novo or from a pre-
DE existing benign nevus, which occurs most often in the skin but also
DE may involve other sites.
SY Cutaneous malignant melanoma 5.
DR MIM; 613099; phenotype.
DR MedGen; C2751295.
DR MeSH; D008545.
//
ID Melanoma, cutaneous malignant 6.
AC DI-03126
AR CMM6.
DE A malignant neoplasm of melanocytes, arising de novo or from a pre-
DE existing benign nevus, which occurs most often in the skin but also
DE may involve other sites.
SY Cutaneous malignant melanoma 6.
DR MIM; 613972; phenotype.
DR MedGen; C3151417.
DR MeSH; D008545.
//
ID Melanoma, cutaneous malignant 8.
AC DI-03341
AR CMM8.
DE A malignant neoplasm of melanocytes, arising de novo or from a pre-
DE existing benign nevus, which occurs most often in the skin but also
DE may involve other sites.
SY Cutaneous malignant melanoma 8.
SY Susceptibility to melanoma and renal cell carcinoma.
DR MIM; 614456; phenotype.
DR MedGen; C3152204.
DR MeSH; D008545.
//
ID Melanoma, cutaneous malignant 9.
AC DI-03701
AR CMM9.
DE A malignant neoplasm of melanocytes, arising de novo or from a pre-
DE existing benign nevus, which occurs most often in the skin but also
DE may involve other sites.
SY Cutaneous malignant melanoma 9.
DR MIM; 615134; phenotype.
DR MedGen; C3554574.
DR MedGen; CN168272.
DR MeSH; D008545.
//
ID Melanoma-astrocytoma syndrome.
AC DI-01961
AR MASTS.
DE Characterized by a dual predisposition to melanoma and neural system
DE tumors, commonly astrocytoma.
DR MIM; 155755; phenotype.
DR MedGen; C1835042.
//
ID Melanosis, neurocutaneous.
AC DI-04100
AR NCMS.
DE A rare congenital disease characterized by the presence of giant or
DE multiple melanocytic nevi on the skin, foci of melanin-producing cells
DE within the brain parenchyma, and infiltration of leptomeninges by
DE abnormal melanin deposits. Neurologic abnormalities include seizures,
DE hydrocephalus, arachnoid cysts, tumors, and syringomyelia. Some
DE patients may develop malignant melanoma.
SY Neuromelanosis.
DR MIM; 249400; phenotype.
DR MedGen; C0544862.
DR MeSH; D008548.
DR MeSH; D020752.
//
ID Melnick-Needles syndrome.
AC DI-01962
AR MNS.
DE Severe congenital bone disorder characterized by typical facies
DE (exophthalmos, full cheeks, micrognathia and malalignment of teeth),
DE flaring of the metaphyses of long bones, s-like curvature of bones of
DE legs, irregular constrictions in the ribs, and sclerosis of base of
DE skull.
DR MIM; 309350; phenotype.
DR MedGen; C0025237.
//
ID Melorheostosis, isolated.
AC DI-01963
AR MEL.
DE A sclerosing bone disorder characterized by hyperostosis of the cortex
DE of tubular bones, frequently involving one limb. The lesions may be
DE accompanied by abnormalities of adjacent soft tissue, joint
DE contractures, sclerodermatous skin lesions, muscle atrophy, or
DE hemangioma.
DR MIM; 155950; phenotype.
DR MedGen; C0025239.
DR MedGen; C3149631.
DR MeSH; D008557.
//
ID MEND syndrome.
AC DI-04527
AR MEND.
DE An X-linked recessive disorder associated with a defect in sterol
DE biosynthesis. Disease manifestations and severity are highly variable.
DE Clinical features include intellectual disability, short stature,
DE scoliosis, digital abnormalities, cataracts, and dermatologic
DE abnormalities.
SY Male EBP disorder with neurological defects.
DR MIM; 300960; phenotype.
DR MedGen; CN232914.
DR MeSH; D043202.
//
ID Meningioma.
AC DI-04248
AR MNGMA.
DE A common neoplasm of the central nervous system derived from
DE arachnoidal cells. The majority of meningiomas are well differentiated
DE vascular tumors which grow slowly and have a low potential to be
DE invasive, although malignant subtypes occur. Most cases are sporadic.
DE Familial occurrence of meningioma is rare.
SY Familial meningioma.
DR MIM; 607174; phenotype.
DR MedGen; C1333989.
DR MedGen; C3551915.
DR MeSH; D008579.
//
ID Menke-Hennekam syndrome 1.
AC DI-05487
AR MKHK1.
DE A form of Menke-Hennekam syndrome, a congenital autosomal dominant
DE disease characterized by developmental delay, growth retardation, and
DE craniofacial dysmorphism. Patients have intellectual disability of
DE variable severity, speech delay, autistic behavior, short stature and
DE microcephaly. Main facial characteristics include short palpebral
DE fissures, telecanthi, depressed nasal ridge, short nose, anteverted
DE nares, short columella and long philtrum.
DR MIM; 618332; phenotype.
DR MedGen; CN258217.
DR MeSH; D000015.
KW KW-0991:Intellectual disability.
//
ID Menke-Hennekam syndrome 2.
AC DI-05488
AR MKHK2.
DE A form of Menke-Hennekam syndrome, a congenital autosomal dominant
DE disease characterized by developmental delay, growth retardation, and
DE craniofacial dysmorphism. Patients have intellectual disability of
DE variable severity, speech delay, autistic behavior, short stature and
DE microcephaly. Main facial characteristics include short palpebral
DE fissures, telecanthi, depressed nasal ridge, short nose, anteverted
DE nares, short columella and long philtrum.
DR MIM; 618333; phenotype.
DR MedGen; CN258218.
DR MeSH; D000015.
KW KW-0991:Intellectual disability.
//
ID Menkes disease.
AC DI-00706
AR MNK.
DE An X-linked recessive disorder of copper metabolism characterized by
DE generalized copper deficiency. MNKD results in progressive
DE neurodegeneration and connective-tissue disturbances: focal cerebral
DE and cerebellar degeneration, early growth retardation, peculiar hair,
DE hypopigmentation, cutis laxa, vascular complications and death in
DE early childhood. The clinical features result from the dysfunction of
DE several copper-dependent enzymes. A mild form of the disease has been
DE described, in which cerebellar ataxia and moderate developmental delay
DE predominate.
SY Kinky hair disease.
SY Menkes syndrome.
SY Steely hair disease.
DR MIM; 309400; phenotype.
DR MedGen; C0022716.
DR MeSH; D007706.
KW KW-0523:Neurodegeneration.
//
ID Merosin-deficient congenital muscular dystrophy 1A.
AC DI-01969
AR MDC1A.
DE Characterized by difficulty walking, hypotonia, proximal weakness,
DE hyporeflexia, and white matter hypodensity on MRI.
DR MIM; 607855; phenotype.
DR MedGen; C1263858.
DR MedGen; C1842898.
//
ID Mesothelioma, malignant.
AC DI-03213
AR MESOM.
DE An aggressive neoplasm of the serosal lining of the chest. It appears
DE as broad sheets of cells, with some regions containing spindle-shaped,
DE sarcoma-like cells and other regions showing adenomatous patterns.
DE Pleural mesotheliomas have been linked to exposure to asbestos.
DR MIM; 156240; phenotype.
DR MedGen; C0345967.
DR MeSH; D008654.
//
ID Metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration.
AC DI-04674
AR MECRCN.
DE An autosomal recessive disorder characterized by metabolic
DE encephalomyopathic crises, hypoglycemia, hyperammonemia, episodic
DE rhabdomyolysis, susceptibility to life-threatening cardiac
DE tachyarrhythmias, developmental delay, intellectual disability, and
DE mild diffuse cerebral atrophy.
SY Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration.
DR MIM; 616878; phenotype.
DR MedGen; CN235671.
DR MeSH; D012206.
DR MeSH; D019636.
KW KW-0523:Neurodegeneration.
//
ID Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression.
AC DI-05563
AR MECREN.
DE An autosomal recessive disease characterized by muscle weakness,
DE developmental delay, lactic acidosis, and encephalopathy. The severity
DE of the clinical manifestations is highly variable even within affected
DE individuals of the same family, ranging from asymptomatic lactic
DE acidosis to severe developmental regression, epilepsy, intellectual
DE disability, metabolic crisis, and multiorgan involvement.
DR MIM; 618416; phenotype.
DR MedGen; CN258383.
DR MeSH; D017237.
//
ID Metacarpal 4-5 fusion.
AC DI-03931
AR MF4.
DE A rare congenital malformation of the hand characterized by the
DE partial or complete fusion of the fourth and fifth metacarpals. The
DE anomaly occurs as an isolated trait or part of a syndrome.
DR MIM; 309630; phenotype.
DR MedGen; C1839728.
DR MeSH; D006228.
//
ID Metachondromatosis.
AC DI-02832
AR MC.
DE A skeletal disorder with radiologic features of both multiple
DE exostoses and Ollier disease, characterized by the presence of
DE exostoses, commonly of the bones of the hands and feet, and
DE enchondromas of the metaphyses of long bones and iliac crest.
DR MIM; 156250; phenotype.
DR MedGen; C0410530.
DR MeSH; D018210.
//
ID Metachromatic leukodystrophy.
AC DI-00652
AR MLD.
DE An autosomal recessive disease caused by abnormal intralysosomal
DE accumulation of cerebroside-3-sulfate in central and peripheral
DE nervous systems, as well as other organs. MLD is clinically
DE characterized by leukodystrophy, progressive demyelination and a
DE variety of neurological symptoms, including gait disturbances,
DE ataxias, optical atrophy, dementia, seizures, and spastic
DE tetraparesis. Decreased arylsulfatase A activity is detected in urine,
DE leukocytes, and fibroblasts of affected individuals. Several forms of
DE the disease can be distinguished according to the age at onset and
DE disease severity: late infantile, juvenile and adult forms, partial
DE cerebroside sulfate deficiency, and pseudoarylsulfatase A deficiency.
DE Individuals with pseudoarylsulfatase A deficiency have low
DE arylsulfatase A activity but lack neurological manifestations and are
DE apparently healthy.
SY ARSA deficiency.
SY Arylsulfatase A deficiency.
SY Cerebral sclerosis, diffuse, metachromatic form.
SY Cerebroside sulfatase deficiency.
SY Metachromatic leukodystrophy, adult.
SY Metachromatic leukodystrophy, juvenile.
SY Metachromatic leukodystrophy, late infantile.
SY Pseudoarylsulfatase A deficiency.
SY Sulfatide lipidosis.
DR MIM; 250100; phenotype.
DR MedGen; C0023522.
DR MedGen; C0751276.
DR MedGen; C0751278.
DR MedGen; C0751279.
DR MedGen; C1855255.
DR MedGen; C2713319.
DR MeSH; D007966.
KW KW-0478:Metachromatic leukodystrophy.
//
ID Metachromatic leukodystrophy due to saposin-B deficiency.
AC DI-02744
AR MLD-SAPB.
DE An atypical form of metachromatic leukodystrophy. It is characterized
DE by tissue accumulation of cerebroside-3-sulfate, demyelination,
DE periventricular white matter abnormalities, peripheral neuropathy.
DE Additional neurological features include dysarthria, ataxic gait,
DE psychomotor regression, seizures, cognitive decline and spastic
DE quadriparesis.
SY Activator deficiency.
SY Metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency.
SY Saposin B deficiency.
DR MIM; 249900; phenotype.
DR MedGen; C0268262.
DR MeSH; D007966.
KW KW-0478:Metachromatic leukodystrophy.
//
ID Metaphyseal anadysplasia 1.
AC DI-02635
AR MANDP1.
DE A bone development disorder characterized by skeletal anomalies that
DE resolve spontaneously with age. Clinical characteristics are evident
DE from the first months of life and include slight shortness of stature
DE and a mild varus deformity of the legs. Patients attain a normal
DE stature in adolescence and show improvement or complete resolution of
DE varus deformity of the legs and rhizomelic micromelia.
DR MIM; 602111; phenotype.
DR MedGen; C2748495.
DR MeSH; D001848.
//
ID Metaphyseal anadysplasia 2.
AC DI-02636
AR MANDP2.
DE A bone development disorder characterized by skeletal anomalies that
DE resolve spontaneously with age. Clinical characteristics are evident
DE from the first months of life and include slight shortness of stature
DE and a mild varus deformity of the legs. Patients attain a normal
DE stature in adolescence and show improvement or complete resolution of
DE varus deformity of the legs and rhizomelic micromelia.
DR MIM; 613073; phenotype.
DR MedGen; C2751322.
DR MeSH; D001848.
//
ID Metaphyseal chondrodysplasia, Jansen type.
AC DI-01847
AR MCDJ.
DE A rare autosomal dominant disorder characterized by a short-limbed
DE dwarfism associated with hypercalcemia and normal or low serum
DE concentrations of the two parathyroid hormones.
SY Metaphyseal chondrodysplasia, Murk Jansen type.
DR MIM; 156400; phenotype.
DR MedGen; C0265295.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly.
AC DI-03699
AR MDMHB.
DE An autosomal dominant bone dysplasia characterized by metaphyseal
DE flaring of long bones, enlargement of the medial halves of the
DE clavicles, maxillary hypoplasia, variable brachydactyly, and
DE dystrophic teeth.
DR MIM; 156510; phenotype.
DR MedGen; C1834969.
DR MedGen; C3549874.
DR MeSH; D001848.
//
ID Metaphyseal dysplasia, Spahr type.
AC DI-04373
AR MDST.
DE An autosomal recessive, rare disease characterized by moderate short
DE stature, mild genua vara, and radiographic signs of metaphyseal
DE dysplasia, but no biochemical signs of rickets.
SY Metaphyseal chondrodysplasia, Spahr type.
SY Spahr type metaphyseal chondrodysplasia.
DR MIM; 250400; phenotype.
DR MedGen; C0432225.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Metatropic dysplasia.
AC DI-02481
AR MTD.
DE A severe spondyloepimetaphyseal dysplasia characterized by short limbs
DE with limitation and enlargement of joints and usually severe
DE kyphoscoliosis. Radiologic features include severe platyspondyly,
DE severe metaphyseal enlargement and shortening of long bones.
SY Metatropic dwarfism.
DR MIM; 156530; phenotype.
DR MedGen; C0265281.
DR MeSH; D001848.
KW KW-0242:Dwarfism.
//
ID Methemoglobinemia and ambiguous genitalia.
AC DI-02720
AR METAG.
DE An autosomal recessive disorder characterized by sex steroid
DE deficiency but normal glucocorticoid and mineralocorticoid reserve,
DE male undermasculinization, absent or disturbed pubertal development,
DE decreased levels of erythrocyte cytochrome B5, and excessive amounts
DE of methemoglobin in blood cells resulting in cyanosis and hypoxia.
SY Isolated 17,20-lyase deficiency, pure.
SY Methemoglobinemia due to deficiency of cytochrome b5.
SY Methemoglobinemia type IV.
DR MIM; 250790; phenotype.
DR MedGen; C2673427.
DR MeSH; D008708.
//
ID Methemoglobinemia CYB5R3-related.
AC DI-01723
AR METHB-CYB5R3.
DE A form of methemoglobinemia, a hematologic disease characterized by
DE the presence of excessive amounts of methemoglobin in blood cells,
DE resulting in decreased oxygen carrying capacity of the blood, cyanosis
DE and hypoxia. There are two types of methemoglobinemia CYB5R3-related.
DE In type 1, the defect affects the soluble form of the enzyme, is
DE restricted to red blood cells, and causes well-tolerated
DE methemoglobinemia. In type 2, the defect affects both the soluble and
DE microsomal forms of the enzyme and is thus generalized, affecting red
DE cells, leukocytes and all body tissues. Type 2 methemoglobinemia is
DE associated with mental deficiency and other neurologic symptoms.
SY Methemoglobinemia congenital autosomal recessive.
SY Methemoglobinemia due to deficiency of methemoglobin reductase.
SY Methemoglobinemia type I.
SY Methemoglobinemia type II.
SY NADH-cytochrome b5 reductase deficiency.
SY NADH-cytochrome b5 reductase deficiency type I.
SY NADH-cytochrome b5 reductase deficiency type II.
SY NADH-dependent methemoglobin reductase deficiency.
DR MIM; 250800; phenotype.
DR MedGen; C0268193.
DR MedGen; C2749559.
DR MedGen; C2749560.
DR MedGen; C2749561.
DR MedGen; C2749562.
DR MeSH; D008708.
//
ID Methionine adenosyltransferase deficiency.
AC DI-02745
AR MATD.
DE An inborn error of metabolism resulting in isolated
DE hypermethioninemia. Most patients have no clinical abnormalities,
DE although some neurologic symptoms may be present in rare cases with
DE severe loss of methionine adenosyltransferase activity.
SY Isolated persistent hypermethioninemia.
SY MAT deficiency.
SY MAT I/III deficiency.
DR MIM; 250850; phenotype.
DR MedGen; C0268621.
DR MedGen; CN068479.
DR MedGen; CN068480.
DR MeSH; D000592.
//
ID Methylmalonate semialdehyde dehydrogenase deficiency.
AC DI-01973
AR MMSDHD.
DE A metabolic disorder characterized by elevated beta-alanine, 3-
DE hydroxypropionic acid, and both isomers of 3-amino and 3-
DE hydroxyisobutyric acids in urine organic acids.
SY MMSDH deficiency.
DR MIM; 614105; phenotype.
DR MedGen; C1864150.
DR MedGen; C3279840.
DR MeSH; D000592.
//
ID Methylmalonic aciduria and homocystinuria type cblJ.
AC DI-03558
AR MAHCJ.
DE A disorder of cobalamin metabolism characterized by decreased levels
DE of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin
DE (MeCbl). Clinical features include feeding difficulties, poor growth,
DE hypotonia, lethargy, anemia, and developmental delay.
DR MIM; 614857; phenotype.
DR MedGen; C3553915.
DR MedGen; CN158715.
DR MeSH; D006712.
DR MeSH; D008661.
//
ID Methylmalonic aciduria and homocystinuria, cblC type.
AC DI-00744
AR MAHCC.
DE An autosomal recessive disorder of cobalamin metabolism characterized
DE by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and
DE methylcobalamin (MeCbl). Affected individuals may have developmental,
DE hematologic, neurologic, metabolic, ophthalmologic, and dermatologic
DE clinical findings. Although considered a disease of infancy or
DE childhood, some individuals develop symptoms in adulthood.
SY Methylmalonic acidemia and homocystinuria cblC type.
SY Methylmalonic aciduria and homocystinuria vitamin B12-responsive.
SY Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase.
DR MIM; 277400; phenotype.
DR MedGen; C1848561.
DR MeSH; D006712.
DR MeSH; D008661.
//
ID Methylmalonic aciduria and homocystinuria, cblD type.
AC DI-00745
AR MAHCD.
DE An autosomal recessive disorder of cobalamin metabolism characterized
DE by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and
DE methylcobalamin (MeCbl). Clinical features include developmental
DE delay, hyotonia, intellectual disability, seizures, megaloblastic
DE anemia. Some patients manifest combined methylmalonic aciduria and
DE homocystinuria (referred to as cblD original), some have only isolated
DE homocystinuria (cblD variant 1), and others have only methylmalonic
DE aciduria (cblD variant 2).
SY Homocystinuria cblD variant 1.
SY Methylmalonic acidemia and homocystinuria cblD type.
SY Methylmalonic aciduria and homocystinuria cblD-combined.
SY Methylmalonic aciduria and homocystinuria cblD original.
SY Methylmalonic aciduria cblD variant 2.
DR MIM; 277410; phenotype.
DR MedGen; C1848552.
DR MedGen; C1848553.
DR MedGen; C1848554.
DR MedGen; C2678262.
DR MedGen; C2678263.
DR MeSH; D006712.
DR MeSH; D008661.
//
ID Methylmalonic aciduria and homocystinuria, cblF type.
AC DI-00746
AR MAHCF.
DE An autosomal recessive disorder of cobalamin metabolism characterized
DE by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and
DE methylcobalamin (MeCbl). It is due to accumulation of free cobalamin
DE in lysosomes, thus hindering its conversion to cofactors. Clinical
DE features include developmental delay, stomatitis, glossitis, seizures
DE and methylmalonic aciduria responsive to vitamin B12.
SY cblF.
SY Cobalamin F disease.
SY Methylcobalamin deficiency tape F.
SY Methylmalonic acidemia and homocystinuria cblF type.
SY Methylmalonic aciduria due to vitamin B12-release defect.
SY Vitamin B12 lysosomal release defect.
SY Vitamin B12 storage defect.
DR MIM; 277380; phenotype.
DR MedGen; C1848578.
DR MeSH; D006712.
DR MeSH; D008661.
//
ID Methylmalonic aciduria and homocystinuria, cblX type.
AC DI-03561
AR MAHCX.
DE An X-linked recessive metabolic disorder characterized by severely
DE delayed psychomotor development apparent in infancy, failure to
DE thrive, impaired intellectual development, and intractable epilepsy.
DE Additional features may include microcephaly and choreoathetosis.
SY Intellectual developmental disorder, X-linked 3.
SY MRX3.
SY XLID3.
DR MIM; 309541; phenotype.
DR MedGen; C0796208.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency.
AC DI-00749
AR MMAM.
DE An often fatal disorder of organic acid metabolism. Common clinical
DE features include lethargy, vomiting, failure to thrive, hypotonia,
DE neurological deficit and early death. Two forms of the disease are
DE distinguished by the presence (mut-) or absence (mut0) of residual
DE enzyme activity. Mut0 patients have more severe neurological
DE manifestations of the disease than do MUT- patients. MMAM is
DE unresponsive to vitamin B12 therapy.
SY Methylmalonicaciduria due to methylmalonyl-CoA mutase deficiency.
SY Methylmalonic aciduria type mut.
SY Methylmalonicaciduria vitamin B12 unresponsive.
DR MIM; 251000; phenotype.
DR MedGen; C1855114.
DR MedGen; C1855115.
DR MedGen; C1855116.
DR MeSH; D008661.
//
ID Methylmalonic aciduria type cblA.
AC DI-00747
AR MMAA.
DE A disorder of methylmalonate and cobalamin metabolism due to defective
DE synthesis of adenosylcobalamin.
SY Methylmalonic aciduria type A.
SY Vitamin B12 responsive methylmalonic acidemia type cbl A.
SY Vitamin B12 responsive methylmalonic aciduria type cbl A.
DR MIM; 251100; phenotype.
DR MedGen; C1855109.
DR MeSH; D008661.
//
ID Methylmalonic aciduria type cblB.
AC DI-00748
AR MMAB.
DE A disorder of methylmalonate and cobalamin metabolism due to defective
DE synthesis of adenosylcobalamin.
SY Methylmalonic aciduria type B.
SY Vitamin B12 responsive methylmalonic acidemia type cbl B.
SY Vitamin B12 responsive methylmalonic aciduria type cbl B.
DR MIM; 251110; phenotype.
DR MedGen; C1855102.
DR MeSH; D008661.
//
ID Methylmalonic aciduria, transient, due to transcobalamin receptor defect.
AC DI-02979
AR MMATC.
DE A metabolic disorder characterized by increased blood C3-acylcarnitine
DE levels, elevated methylmalonate and homocysteine, and low uptake of
DE transcobalamin-bound cobalamin, but normal conversion to
DE adenosylcobalamin and methylcobalamin.
SY Methylmalonic acidemia TCblR type.
SY Methylmalonic aciduria due to transcobalamin receptor defect.
SY Methylmalonic aciduria type TCblR.
DR MIM; 613646; phenotype.
DR MedGen; C3150900.
DR MeSH; D008661.
//
ID Methylmalonyl-CoA epimerase deficiency.
AC DI-01974
AR MCEED.
DE Autosomal recessive inborn error of amino acid metabolism, involving
DE valine, threonine, isoleucine and methionine. This organic aciduria
DE may present in the neonatal period with life-threatening metabolic
DE acidosis, hyperammonemia, feeding difficulties, pancytopenia and coma.
SY Methylmalonic aciduria III.
SY Methylmalonic aciduria type 3.
SY Methylmalonyl-CoA racemase deficiency.
DR MIM; 251120; phenotype.
DR MedGen; C1855100.
DR MedGen; C1855101.
//
ID Mevalonic aciduria.
AC DI-01975
AR MEVA.
DE Accumulation of mevalonic acid which causes a variety of symptoms such
DE as psychomotor retardation, dysmorphic features, cataracts,
DE hepatosplenomegaly, lymphadenopathy, anemia, hypotonia, myopathy, and
DE ataxia.
DR MIM; 610377; phenotype.
DR MedGen; C1959626.
//
ID Microangiopathy and leukoencephalopathy, pontine, autosomal dominant.
AC DI-05644
AR PADMAL.
DE A form of cerebral small vessel disease characterized by the
DE recurrence of ischemic strokes starting in the thirties or forties,
DE and associated with progressive imbalance and cognitive impairment.
DE MRI examination shows ischemic lacunas in the pons and cerebral
DE hemispheres, and diffuse leukoencephalopathy affecting various brain
DE regions.
DR MIM; 618564; phenotype.
DR MedGen; CN262231.
DR MeSH; D059345.
//
ID Microcephalic osteodysplastic primordial dwarfism 2.
AC DI-01976
AR MOPD2.
DE Adults with this rare inherited condition have an average height of
DE 100 centimeters and a brain size comparable to that of a 3-month-old
DE baby, but are of near-normal intelligence.
SY Osteodysplastic primordial dwarfism type 2.
DR MIM; 210720; phenotype.
DR MedGen; C0432246.
DR MedGen; C1859451.
//
ID Microcephaly 1, primary, autosomal recessive.
AC DI-00751
AR MCPH1.
DE A disease defined as a head circumference more than 3 standard
DE deviations below the age-related mean. Brain weight is markedly
DE reduced and the cerebral cortex is disproportionately small. Despite
DE this marked reduction in size, the gyral pattern is relatively well
DE preserved, with no major abnormality in cortical architecture.
DE Affected individuals are mentally retarded. Primary microcephaly is
DE further defined by the absence of other syndromic features or
DE significant neurological deficits due to degenerative brain disorder.
DE Some MCHP1 patients also present growth retardation, short stature,
DE and misregulated chromosome condensation as indicated by a high number
DE of prophase-like cells detected in routine cytogenetic preparations
DE and poor-quality metaphase G-banding.
SY Microcephaly vera.
SY PCC syndrome.
SY Premature chromosome condensation syndrome.
SY True microcephaly.
DR MIM; 251200; phenotype.
DR MedGen; C1855081.
DR MeSH; D008831.
KW KW-0905:Primary microcephaly.
KW KW-0991:Intellectual disability.
//
ID Microcephaly 10, primary, autosomal recessive.
AC DI-03647
AR MCPH10.
DE A form of microcephaly, a disease defined as a head circumference more
DE than 3 standard deviations below the age-related mean. Brain weight is
DE markedly reduced and the cerebral cortex is disproportionately small.
DE MCPH10 is characterized by extremely small head size and death usually
DE by 1 year of age. Neuropathologic examination shows severe loss of
DE neurons as well as neuronal loss of polarity and abnormal dendritic
DE maturation.
DR MIM; 615095; phenotype.
DR MedGen; C3554499.
DR MedGen; CN165798.
DR MeSH; D008831.
KW KW-0905:Primary microcephaly.
KW KW-0991:Intellectual disability.
//
ID Microcephaly 11, primary, autosomal recessive.
AC DI-03890
AR MCPH11.
DE A form of microcephaly, a disease defined as a head circumference more
DE than 3 standard deviations below the age-related mean. Brain weight is
DE markedly reduced and the cerebral cortex is disproportionately small.
DR MIM; 615414; phenotype.
DR MedGen; C3809431.
DR MedGen; CN180048.
DR MeSH; D008831.
KW KW-0905:Primary microcephaly.
//
ID Microcephaly 12, primary, autosomal recessive.
AC DI-04262
AR MCPH12.
DE A form of microcephaly, a disease defined as a head circumference more
DE than 3 standard deviations below the age-related mean. Brain weight is
DE markedly reduced and the cerebral cortex is disproportionately small.
DR MIM; 616080; phenotype.
DR MedGen; CN220919.
DR MeSH; D008831.
KW KW-0905:Primary microcephaly.
//
ID Microcephaly 13, primary, autosomal recessive.
AC DI-04269
AR MCPH13.
DE A form of microcephaly, a disease defined as a head circumference more
DE than 3 standard deviations below the age-related mean. Brain weight is
DE markedly reduced and the cerebral cortex is disproportionately small.
DR MIM; 616051; phenotype.
DR MedGen; CN220782.
DR MeSH; D008831.
KW KW-0905:Primary microcephaly.
//
ID Microcephaly 14, primary, autosomal recessive.
AC DI-04446
AR MCPH14.
DE A form of microcephaly, a disease defined as a head circumference more
DE than 3 standard deviations below the age, sex and ethnically matched
DE mean. Brain weight is markedly reduced and the cerebral cortex is
DE disproportionately small.
DR MIM; 616402; phenotype.
DR MedGen; CN231127.
DR MeSH; D008831.
KW KW-0905:Primary microcephaly.
//
ID Microcephaly 16, primary, autosomal recessive.
AC DI-04594
AR MCPH16.
DE A form of microcephaly, a disease defined as a head circumference more
DE than 3 standard deviations below the age, sex and ethnically matched
DE mean. Brain weight is markedly reduced and the cerebral cortex is
DE disproportionately small.
DR MIM; 616681; phenotype.
DR MedGen; CN233372.
DR MeSH; D008831.
KW KW-0905:Primary microcephaly.
//
ID Microcephaly 17, primary, autosomal recessive.
AC DI-04821
AR MCPH17.
DE A form of microcephaly, a disease defined as a head circumference more
DE than 3 standard deviations below the age, sex and ethnically matched
DE mean. Brain weight is markedly reduced and the cerebral cortex is
DE disproportionately small. MCPH17 is a severe form characterized by
DE lissencephaly, enlarged ventricles, agenesis of the corpus callosum,
DE cerebellar hypoplasia, and brainstem hypoplasia. Patients manifest
DE delayed psychomotor development, intellectual disability, spasticity,
DE axial hypotonia, and dysmorphic features.
DR MIM; 617090; phenotype.
DR MedGen; CN238477.
DR MeSH; D008831.
KW KW-0905:Primary microcephaly.
//
ID Microcephaly 18, primary, autosomal dominant.
AC DI-05016
AR MCPH18.
DE A form of microcephaly, a disease defined as a head circumference more
DE than 3 standard deviations below the age, sex and ethnically matched
DE mean. Brain weight is markedly reduced and the cerebral cortex is
DE disproportionately small. MCPH18 affected individuals manifest
DE microcephaly with mild to moderate intellectual disability.
DR MIM; 617520; phenotype.
DR MedGen; CN251651.
DR MeSH; D008831.
KW KW-0905:Primary microcephaly.
//
ID Microcephaly 19, primary, autosomal recessive.
AC DI-05157
AR MCPH19.
DE A form of microcephaly, a disease defined as a head circumference more
DE than 3 standard deviations below the age, sex and ethnically matched
DE mean. Brain weight is markedly reduced and the cerebral cortex is
DE disproportionately small. MCPH19 affected individuals manifest severe
DE developmental delay, failure to thrive, cortical blindness, and
DE spasticity. Brain imaging show a simplified gyral pattern, thin corpus
DE callosum, slight ventricular dilation, and delayed myelination.
DR MIM; 617800; phenotype.
DR MedGen; CN677079.
DR MeSH; D008831.
KW KW-0905:Primary microcephaly.
//
ID Microcephaly 2, primary, autosomal recessive, with or without cortical malformations.
AC DI-03164
AR MCPH2.
DE A disease characterized by microcephaly, moderate to severe
DE intellectual disability, and various type of cortical malformations in
DE most patients. Microcephaly is defined as a head circumference more
DE than 3 standard deviations below the age-related mean. Cortical
DE malformations include pachygyria with cortical thickening, microgyria,
DE lissencephaly, hypoplasia of the corpus callosum, schizencephaly. All
DE affected individuals have delayed psychomotor development. Some
DE patients have seizures.
DR MIM; 604317; phenotype.
DR MedGen; C1858535.
DR MeSH; D008831.
KW KW-0905:Primary microcephaly.
KW KW-0991:Intellectual disability.
//
ID Microcephaly 20, primary, autosomal recessive.
AC DI-05207
AR MCPH20.
DE A form of microcephaly, a disease defined as a head circumference more
DE than 3 standard deviations below the age, sex and ethnically matched
DE mean. Brain weight is markedly reduced and the cerebral cortex is
DE disproportionately small. MCPH20 features include mild to moderate
DE intellectual disability, autistic features, poor speech. Disease
DE severity is highly variable.
DR MIM; 617914; phenotype.
DR MedGen; CN895593.
DR MeSH; D008831.
KW KW-0905:Primary microcephaly.
//
ID Microcephaly 21, primary, autosomal recessive.
AC DI-05234
AR MCPH21.
DE A form of microcephaly, a disease defined as a head circumference more
DE than 3 standard deviations below the age, sex and ethnically matched
DE mean. Brain weight is markedly reduced and the cerebral cortex is
DE disproportionately small. MCPH21 features include mild intellectual
DE disability, intrauterine growth retardation, short stature, and
DE microcephaly.
DR MIM; 617983; phenotype.
DR MedGen; CN244930.
DR MeSH; D008831.
KW KW-0905:Primary microcephaly.
//
ID Microcephaly 22, primary, autosomal recessive.
AC DI-05235
AR MCPH22.
DE A form of microcephaly, a disease defined as a head circumference more
DE than 3 standard deviations below the age, sex and ethnically matched
DE mean. Brain weight is markedly reduced and the cerebral cortex is
DE disproportionately small.
DR MIM; 617984; phenotype.
DR MedGen; CN244931.
DR MeSH; D008831.
KW KW-0905:Primary microcephaly.
//
ID Microcephaly 23, primary, autosomal recessive.
AC DI-05236
AR MCPH23.
DE A form of microcephaly, a disease defined as a head circumference more
DE than 3 standard deviations below the age, sex and ethnically matched
DE mean. Brain weight is markedly reduced and the cerebral cortex is
DE disproportionately small.
DR MIM; 617985; phenotype.
DR MedGen; CN244932.
DR MeSH; D008831.
KW KW-0905:Primary microcephaly.
//
ID Microcephaly 24, primary, autosomal recessive.
AC DI-05381
AR MCPH24.
DE A form of microcephaly, a disease defined as a head circumference more
DE than 3 standard deviations below the age, sex and ethnically matched
DE mean. Brain weight is markedly reduced and the cerebral cortex is
DE disproportionately small. MCPH24 patients additionally manifest mildly
DE impaired intellectual development, cerebellar vermis hypoplasia, and
DE fifth finger clinodactyly.
DR MIM; 618179; phenotype.
DR MedGen; CN257781.
DR MeSH; D008831.
KW KW-0905:Primary microcephaly.
//
ID Microcephaly 25, primary, autosomal recessive.
AC DI-05495
AR MCPH25.
DE A form of microcephaly, a disease defined as a head circumference more
DE than 3 standard deviations below the age, sex and ethnically matched
DE mean. Brain weight is markedly reduced and the cerebral cortex is
DE disproportionately small. MCPH25 patients additionally manifest global
DE developmental delay, severe intellectual disability with speech
DE impairment, attention deficit-hyperactivity disorder, and reduced
DE white matter and thin corpus callosum on brain imaging.
DR MIM; 618351; phenotype.
DR MedGen; CN258238.
DR MeSH; D008831.
KW KW-0905:Primary microcephaly.
//
ID Microcephaly 26, primary, autosomal dominant.
AC DI-06044
AR MCPH26.
DE A form of microcephaly, a disease defined as a head circumference more
DE than 3 standard deviations below the age, sex and ethnically matched
DE mean. Brain weight is markedly reduced and the cerebral cortex is
DE disproportionately small. MCPH26 is an autosomal dominant, progressive
DE form apparent at birth or in early infancy. It is associated with
DE relative short stature, variable severity of intellectual disability,
DE and neurological features as the core symptoms. Brain imaging shows a
DE simplified gyral pattern of the cortex and abnormal corpus callosum in
DE some patients.
DR MIM; 619179; phenotype.
DR MedGen; CN295292.
DR MeSH; D008831.
KW KW-0905:Primary microcephaly.
KW KW-0991:Intellectual disability.
//
ID Microcephaly 27, primary, autosomal dominant.
AC DI-06045
AR MCPH27.
DE A form of microcephaly, a disease defined as a head circumference more
DE than 3 standard deviations below the age, sex and ethnically matched
DE mean. Brain weight is markedly reduced and the cerebral cortex is
DE disproportionately small. MCPH27 is an autosomal dominant form
DE apparent in early childhood and associated with global developmental
DE delay, delayed walking, inability to walk, impaired intellectual
DE development, and poor or absent speech. Brain imaging may show
DE enlarged ventricles or gyral abnormalities in some patients.
DR MIM; 619180; phenotype.
DR MedGen; CN295291.
DR MeSH; D008831.
KW KW-0905:Primary microcephaly.
KW KW-0991:Intellectual disability.
//
ID Microcephaly 28, primary, autosomal recessive.
AC DI-06154
AR MCPH28.
DE A form of microcephaly, a disease defined as a head circumference more
DE than 3 standard deviations below the age, sex and ethnically matched
DE mean. Brain weight is markedly reduced and the cerebral cortex is
DE disproportionately small. MCPH28 is an autosomal recessive form
DE characterized by reduced head size (down to -8 SD) and variably
DE impaired intellectual development apparent from early childhood.
DR MIM; 619453; phenotype.
DR MedGen; CN300070.
DR MeSH; D008831.
KW KW-0905:Primary microcephaly.
KW KW-0991:Intellectual disability.
//
ID Microcephaly 3, primary, autosomal recessive.
AC DI-02206
AR MCPH3.
DE A disease defined as a head circumference more than 3 standard
DE deviations below the age-related mean. Brain weight is markedly
DE reduced and the cerebral cortex is disproportionately small. Despite
DE this marked reduction in size, the gyral pattern is relatively well
DE preserved, with no major abnormality in cortical architecture.
DE Affected individuals are mentally retarded. Primary microcephaly is
DE further defined by the absence of other syndromic features or
DE significant neurological deficits due to degenerative brain disorder.
DR MIM; 604804; phenotype.
DR MedGen; C1858108.
DR MeSH; D008831.
KW KW-0905:Primary microcephaly.
KW KW-0991:Intellectual disability.
//
ID Microcephaly 4, primary, autosomal recessive.
AC DI-02860
AR MCPH4.
DE A disease defined as a head circumference more than 3 standard
DE deviations below the age-related mean. Brain weight is markedly
DE reduced and the cerebral cortex is disproportionately small. Despite
DE this marked reduction in size, the gyral pattern is relatively well
DE preserved, with no major abnormality in cortical architecture.
DE Affected individuals are mentally retarded. Primary microcephaly is
DE further defined by the absence of other syndromic features or
DE significant neurological deficits due to degenerative brain disorder.
DR MIM; 604321; phenotype.
DR MedGen; C1858516.
DR MeSH; D008831.
KW KW-0905:Primary microcephaly.
KW KW-0991:Intellectual disability.
//
ID Microcephaly 5, primary, autosomal recessive.
AC DI-00752
AR MCPH5.
DE A disease defined as a head circumference more than 3 standard
DE deviations below the age-related mean. Brain weight is markedly
DE reduced and the cerebral cortex is disproportionately small. Despite
DE this marked reduction in size, the gyral pattern is relatively well
DE preserved, with no major abnormality in cortical architecture.
DE Affected individuals are mentally retarded. Primary microcephaly is
DE further defined by the absence of other syndromic features or
DE significant neurological deficits due to degenerative brain disorder.
SY Microcephaly primary autosomal recessive 5 with simplified gyral pattern.
DR MIM; 608716; phenotype.
DR MedGen; C1837501.
DR MeSH; D008831.
KW KW-0905:Primary microcephaly.
KW KW-0991:Intellectual disability.
//
ID Microcephaly 6, primary, autosomal recessive.
AC DI-02207
AR MCPH6.
DE A disease defined as a head circumference more than 3 standard
DE deviations below the age-related mean. Brain weight is markedly
DE reduced and the cerebral cortex is disproportionately small. Despite
DE this marked reduction in size, the gyral pattern is relatively well
DE preserved, with no major abnormality in cortical architecture.
DE Affected individuals are mentally retarded. Primary microcephaly is
DE further defined by the absence of other syndromic features or
DE significant neurological deficits due to degenerative brain disorder.
DR MIM; 608393; phenotype.
DR MedGen; C1608393.
DR MedGen; C1842109.
DR MeSH; D008831.
KW KW-0905:Primary microcephaly.
KW KW-0991:Intellectual disability.
//
ID Microcephaly 7, primary, autosomal recessive.
AC DI-00753
AR MCPH7.
DE A disease defined as a head circumference more than 3 standard
DE deviations below the age-related mean. Brain weight is markedly
DE reduced and the cerebral cortex is disproportionately small. Despite
DE this marked reduction in size, the gyral pattern is relatively well
DE preserved, with no major abnormality in cortical architecture.
DE Affected individuals are mentally retarded. Primary microcephaly is
DE further defined by the absence of other syndromic features or
DE significant neurological deficits due to degenerative brain disorder.
DR MIM; 612703; phenotype.
DR MedGen; C2675187.
DR MeSH; D008831.
KW KW-0905:Primary microcephaly.
KW KW-0991:Intellectual disability.
//
ID Microcephaly 8, primary, autosomal recessive.
AC DI-03470
AR MCPH8.
DE A disease defined as a head circumference more than 3 standard
DE deviations below the age-related mean. Brain weight is markedly
DE reduced and the cerebral cortex is disproportionately small. Despite
DE this marked reduction in size, the gyral pattern is relatively well
DE preserved, with no major abnormality in cortical architecture.
DE Affected individuals are mentally retarded. Primary microcephaly is
DE further defined by the absence of other syndromic features or
DE significant neurological deficits due to degenerative brain disorder.
DR MIM; 614673; phenotype.
DR MedGen; C3553414.
DR MedGen; CN128714.
DR MeSH; D008831.
KW KW-0905:Primary microcephaly.
KW KW-0991:Intellectual disability.
//
ID Microcephaly 9, primary, autosomal recessive.
AC DI-03546
AR MCPH9.
DE A disease defined as a head circumference more than 3 standard
DE deviations below the age-related mean. Brain weight is markedly
DE reduced and the cerebral cortex is disproportionately small. Despite
DE this marked reduction in size, the gyral pattern is relatively well
DE preserved, with no major abnormality in cortical architecture.
DE Affected individuals are mentally retarded. Primary microcephaly is
DE further defined by the absence of other syndromic features or
DE significant neurological deficits due to degenerative brain disorder.
DR MIM; 614852; phenotype.
DR MedGen; C3553886.
DR MedGen; CN159222.
DR MeSH; D008831.
KW KW-0905:Primary microcephaly.
KW KW-0991:Intellectual disability.
//
ID Microcephaly and chorioretinopathy, autosomal recessive, 1.
AC DI-03393
AR MCCRP1.
DE A syndrome characterized by microcephaly, cognitive impairment,
DE underdeveloped retina and choroid, and epilepsy in some patients. The
DE more anterior parts of the retina, near the periphery and pars plana,
DE have a grayish hue and diminutive vasculature similar to retinopathy
DE of prematurity. Visual impairment becomes evident during the first
DE year of life.
DR MIM; 251270; phenotype.
DR MedGen; C0795793.
DR MedGen; C1855056.
DR MedGen; C3278481.
DR MeSH; D008831.
DR MeSH; D012164.
//
ID Microcephaly and chorioretinopathy, autosomal recessive, 2.
AC DI-04299
AR MCCRP2.
DE A severe disorder characterized by microcephaly, delayed psychomotor
DE development, growth retardation with dwarfism, and ocular
DE abnormalities.
DR MIM; 616171; phenotype.
DR MedGen; CN224990.
DR MeSH; D008831.
DR MeSH; D012164.
KW KW-0242:Dwarfism.
//
ID Microcephaly and chorioretinopathy, autosomal recessive, 3.
AC DI-04411
AR MCCRP3.
DE A disorder characterized by congenital microcephaly and chorioretinal
DE dysplasia associated with poor vision and nystagmus. Variable ocular
DE anomalies include microphthalmia, retinal folding, retinal detachment,
DE optic nerve hypoplasia, absence of retinal vessels, round areas of
DE chorioretinal atrophy, and attenuated electroretinogram. Most patients
DE have mild developmental delay and mild learning difficulties.
DR MIM; 616335; phenotype.
DR MedGen; CN230160.
DR MeSH; D008831.
DR MeSH; D012164.
//
ID Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability.
AC DI-03432
AR MCLMR.
DE An autosomal dominant disorder that involves an overlapping but
DE variable spectrum of central nervous system and ocular developmental
DE anomalies. Microcephaly ranges from mild to severe and is often
DE associated with mild to moderate developmental delay and a
DE characteristic facial phenotype with upslanting palpebral fissures,
DE broad nose with rounded tip, long philtrum with thin upper lip,
DE prominent chin, and prominent ears. Chorioretinopathy is the most
DE common eye abnormality, but retinal folds, microphthalmia, and myopic
DE and hypermetropic astigmatism have also been reported, and some
DE individuals have no overt ocular phenotype. Congenital lymphedema,
DE when present, is typically confined to the dorsa of the feet, and
DE lymphoscintigraphy reveals the absence of radioactive isotope uptake
DE from the webspaces between the toes.
SY CDMMR syndrome.
SY Lymphedema and retinal folds with microcephaly and microphthalmos.
SY Lymphedema microcephaly chorioretinopathy syndrome.
SY Microcephaly lymphedema chorioretinal dysplasia syndrome.
SY MLCRD syndrome.
DR MIM; 152950; phenotype.
DR MedGen; C1835265.
DR MeSH; D008831.
//
ID Microcephaly, Amish type.
AC DI-00750
AR MCPHA.
DE A disorder characterized by severe congenital microcephaly and severe
DE 2-ketoglutaric aciduria leading to death within the first year.
SY Amish lethal microcephaly.
DR MIM; 607196; phenotype.
DR MedGen; C1846648.
DR MeSH; D008831.
//
ID Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum.
AC DI-05464
AR MCIDDS.
DE An autosomal recessive syndrome characterized by cognitive impairment,
DE attention deficit hyperactivity disorder, microcephaly, growth
DE retardation, congenital cataract, and dystonia. Brain MRI shows
DE unusual thinning of the lentiform nucleus, predominantly involving the
DE putamen, and swelling in the caudate heads.
DR MIM; 618284; phenotype.
DR MedGen; CN258120.
DR MeSH; D000015.
KW KW-0898:Cataract.
KW KW-0991:Intellectual disability.
KW KW-1023:Dystonia.
//
ID Microcephaly, congenital cataract, and psoriasiform dermatitis.
AC DI-04663
AR MCCPD.
DE An autosomal recessive inborn error of cholesterol metabolism
DE characterized by accumulation of a large amount of methylsterols,
DE particularly dimethylsterols, in affected individuals. Patients
DE manifest psoriasiform dermatitis, arthralgias, congenital cataracts,
DE microcephaly, and developmental delay.
SY SC4MOL deficiency.
DR MIM; 616834; phenotype.
DR MedGen; CN235344.
DR MeSH; D008052.
KW KW-0898:Cataract.
//
ID Microcephaly, developmental delay, and brittle hair syndrome.
AC DI-05847
AR MDBH.
DE An autosomal recessive disorder characterized by developmental delay,
DE motor and cognitive disabilities, brittle hair and nails, failure to
DE thrive, and short stature.
DR MIM; 618891; phenotype.
DR MedGen; CN280942.
DR MeSH; D000015.
KW KW-0242:Dwarfism.
//
ID Microcephaly, epilepsy, and diabetes syndrome 1.
AC DI-03273
AR MEDS1.
DE An autosomal recessive disorder characterized by microcephaly,
DE simplified gyral pattern, severe epilepsy, and infantile diabetes.
DR MIM; 614231; phenotype.
DR MedGen; C3280240.
DR MeSH; D003920.
DR MeSH; D004827.
DR MeSH; D008831.
KW KW-0219:Diabetes mellitus.
KW KW-0887:Epilepsy.
//
ID Microcephaly, epilepsy, and diabetes syndrome 2.
AC DI-06083
AR MEDS2.
DE An autosomal recessive disorder characterized by neonatal or early-
DE onset diabetes, severe microcephaly, and epilepsy.
DR MIM; 619278; phenotype.
DR MedGen; CN296389.
DR MeSH; D003920.
DR MeSH; D004827.
DR MeSH; D008831.
KW KW-0219:Diabetes mellitus.
KW KW-0887:Epilepsy.
//
ID Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome.
AC DI-05346
AR MFRG.
DE An autosomal dominant syndrome characterized by primary microcephaly,
DE ambiguous male genitalia, dysmorphic facies, polydactyly, and
DE unilateral renal agenesis. Variable brain, cardiac, and skeletal
DE anomalies are present, including corpus callosum agenesis or
DE dysgenesis, lissencephaly, atrial and ventricular septal defects,
DE patent ductus arteriosus, hypoplastic right ventricle, and joint
DE contractures.
DR MIM; 618142; phenotype.
DR MedGen; CN257928.
DR MeSH; D000015.
KW KW-0905:Primary microcephaly.
//
ID Microcephaly, growth deficiency, seizures, and brain malformations.
AC DI-05506
AR MIGSB.
DE An autosomal recessive disorder characterized by intrauterine growth
DE retardation, postnatal growth deficiency, microcephaly, facial
DE dysmorphism, early-onset seizures, brain malformations such as partial
DE agenesis of the corpus callosum and simplified gyration, and poor or
DE absent psychomotor development.
DR MIM; 618346; phenotype.
DR MedGen; CN258240.
DR MeSH; D004392.
DR MeSH; D054220.
KW KW-0887:Epilepsy.
//
ID Microcephaly, growth restriction, and increased sister chromatid exchange 2.
AC DI-05320
AR MGRISCE2.
DE An autosomal recessive disorder characterized by intrauterine growth
DE restriction, poor postnatal growth with short stature and
DE microcephaly, and increased sister chromatid exchange on cell studies.
DR MIM; 618097; phenotype.
DR MedGen; CN253708.
DR MeSH; D049914.
KW KW-0242:Dwarfism.
//
ID Microcephaly, postnatal progressive, with seizures and brain atrophy.
AC DI-02983
AR MCPHSBA.
DE A disorder characterized by postnatal progressive microcephaly and
DE severe developmental retardation associated with cerebral and
DE cerebellar atrophy. Infants manifest swallowing difficulties leading
DE to failure to thrive, jitteriness, poor visual fixation, truncal
DE arching, seizures. There is no acquisition of developmental milestones
DE and patients suffer from marked spasticity and profound retardation.
DE Progressive microcephaly becomes evident few months after birth.
DR MIM; 613668; phenotype.
DR MedGen; C3150921.
DR MeSH; D008831.
//
ID Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy.
AC DI-04103
AR MSCCA.
DE A severe, autosomal recessive, neurodevelopmental and
DE neurodegenerative disorder characterized by progressive microcephaly,
DE severe seizures in infancy, atrophy of the cerebral cortex and
DE cerebellar vermis, and mild atrophy of the cerebellar hemispheres,
DE resulting in profoundly delayed development and hypotonia.
DR MIM; 615760; phenotype.
DR MedGen; CN186296.
DR MeSH; D008831.
DR MeSH; D012640.
KW KW-0887:Epilepsy.
KW KW-0905:Primary microcephaly.
//
ID Microcephaly, seizures, and developmental delay.
AC DI-02855
AR MCSZ.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE infantile-onset seizures, microcephaly, severe intellectual disability
DE and delayed motor milestones with absent speech or only achieving a
DE few words. Most patients also have behavioral problems with
DE hyperactivity. Microcephaly is progressive and without neuronal
DE migration or structural abnormalities, consistent with primary
DE microcephaly.
SY DEE10.
SY Developmental and epileptic encephalopathy 10.
SY Early infantile epileptic encephalopathy 10.
SY EIEE10.
DR MIM; 613402; phenotype.
DR MedGen; C3150667.
DR MeSH; D008831.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
KW KW-0905:Primary microcephaly.
KW KW-0991:Intellectual disability.
//
ID Microcephaly, short stature, and impaired glucose metabolism 1.
AC DI-04234
AR MSSGM1.
DE An autosomal recessive disease characterized by microcephaly,
DE intellectual disability, short stature, and disturbed glucose
DE metabolism. Additional clinical features include delayed puberty,
DE hypoglycemia-related seizures, hyperinsulinemic hypoglycemia, and
DE early-onset diabetes.
SY Microcephaly, short stature, and impaired glucose metabolism.
SY MSSGM.
DR MIM; 616033; phenotype.
DR MedGen; CN219581.
DR MeSH; D004392.
DR MeSH; D008831.
DR MeSH; D044882.
KW KW-0219:Diabetes mellitus.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
//
ID Microcephaly, short stature, and impaired glucose metabolism 2.
AC DI-04652
AR MSSGM2.
DE An autosomal recessive disease characterized by microcephaly,
DE intellectual disability, short stature, and disturbed glucose
DE metabolism.
DR MIM; 616817; phenotype.
DR MedGen; CN235207.
DR MeSH; D004392.
DR MeSH; D008831.
DR MeSH; D044882.
KW KW-0219:Diabetes mellitus.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
//
ID Microcephaly, short stature, and limb abnormalities.
AC DI-05065
AR MISSLA.
DE An autosomal recessive disorder characterized by intrauterine growth
DE retardation, microcephaly, variable short stature, and limb
DE abnormalities mainly affecting the upper limb and radial ray. Mild
DE intellectual disability and developmental delay is observed in some
DE patients.
DR MIM; 617604; phenotype.
DR MedGen; CN373593.
DR MeSH; D004392.
DR MeSH; D008831.
DR MeSH; D017880.
KW KW-0242:Dwarfism.
//
ID Microcephaly, short stature, and polymicrogyria with or without seizures.
AC DI-03556
AR MSSP.
DE A disease characterized by many irregular small gyri in the brain
DE surface and fusion of the molecular layer over multiple small gyri,
DE which gives a festooned appearance to the cortical surface, without
DE abnormal neuronal migration. Polymicrogyria is a heterogeneous
DE disorder, considered to be the result of postmigratory abnormal
DE cortical organization. MSSP patients have moderate to severe
DE intellectual disability, poor speech, dysarthria and seizures.
SY PMGYS.
SY Polymicrogyria with seizures.
DR MIM; 614833; phenotype.
DR MedGen; C3553831.
DR MedGen; CN143955.
DR MeSH; D054220.
//
ID Microcephaly-capillary malformation syndrome.
AC DI-03797
AR MICCAP.
DE A congenital disorder characterized by severe progressive
DE microcephaly, early-onset refractory epilepsy, profound developmental
DE delay, and multiple small capillary malformations spread diffusely on
DE the body. Additional more variable features include dysmorphic facial
DE features, distal limb abnormalities, and mild heart defects.
DR MIM; 614261; phenotype.
DR MedGen; C3280296.
DR MeSH; D008831.
DR MeSH; D054079.
//
ID Microcephaly-micromelia syndrome.
AC DI-05053
AR MIMIS.
DE A severe autosomal recessive disorder characterized by intrauterine
DE growth restriction, marked microcephaly, craniofacial anomalies,
DE skeletal dysplasia, and variable malformations of the limbs,
DE particularly the upper limbs. It usually results in death in utero or
DE in the perinatal period.
DR MIM; 251230; phenotype.
DR MedGen; C1855079.
DR MeSH; D008831.
DR MeSH; D017880.
//
ID Microcornea, myopic chorioretinal atrophy, and telecanthus.
AC DI-03907
AR MMCAT.
DE A ocular syndrome characterized by microcornea and myopic
DE chorioretinal atrophy. Microcornea is defined by a corneal diameter
DE inferior to 10 mm in both meridians in an otherwise normal eye. In
DE addition to ocular findings, some patients have telecanthus and
DE posteriorly rotated ears.
DR MIM; 615458; phenotype.
DR MedGen; C3809567.
DR MedGen; CN180182.
DR MeSH; D005128.
DR MeSH; D019465.
//
ID Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1.
AC DI-05960
AR MRCS1.
DE An autosomal dominant ocular disorder characterized by poor visual
DE acuity in early childhood, due to congenital cataract and microcornea
DE followed by rod-cone dystrophy, with later development of posterior
DE staphyloma.
DR MIM; 619082; phenotype.
DR MedGen; CN293415.
DR MeSH; D058499.
KW KW-0898:Cataract.
//
ID Microhydranencephaly.
AC DI-04102
AR MHAC.
DE A severe neurodevelopmental disorder characterized by microcephaly,
DE severe motor and intellectual disability, spasticity, and brain
DE malformations that include gross dilation of the ventricles with
DE complete absence of the cerebral hemispheres or severe delay in their
DE development.
DR MIM; 605013; phenotype.
DR MedGen; C1857977.
DR MeSH; D006832.
DR MeSH; D008831.
//
ID Micropenis.
AC DI-04741
AR MCRPENS.
DE A disease trait defined as a stretched penile length of less than 2.5
DE standard deviations below the mean for age. Traditionally, the term
DE micropenis refers to a penis that is otherwise normally formed. The
DE term microphallus is used when associated hypospadias is present. The
DE mean stretched penile length in a full-term newborn male is 3.5 cm.
DE Measurements of less than 2-2.5 cm in a full-term newborn male meet
DE the definition of micropenis.
SY Microphallus.
DR MIM; 264600; phenotype.
DR MedGen; C0266435.
DR MedGen; CN000054.
DR MeSH; D058490.
//
ID Microphthalmia with cataracts and iris abnormalities.
AC DI-00768
AR MCOPCTI.
DE A disorder of eye formation, ranging from small size of a single eye
DE to complete bilateral absence of ocular tissues. Ocular abnormalities
DE like opacities of the cornea and lens, scaring of the retina and
DE choroid, cataract and other abnormalities like cataract may also be
DE present.
DR MIM; 610092; phenotype.
DR MedGen; C1864722.
DR MeSH; D008850.
KW KW-1013:Microphthalmia.
//
ID Microphthalmia, isolated, 2.
AC DI-00755
AR MCOP2.
DE A disorder of eye formation, ranging from small size of a single eye
DE to complete bilateral absence of ocular tissues. Ocular abnormalities
DE like opacities of the cornea and lens, scaring of the retina and
DE choroid, and other abnormalities may also be present.
SY Isolated clinical anophthalmia.
DR MIM; 610093; phenotype.
DR MedGen; C1864720.
DR MeSH; D000853.
DR MeSH; D008850.
KW KW-1013:Microphthalmia.
//
ID Microphthalmia, isolated, 3.
AC DI-00756
AR MCOP3.
DE A disorder of eye formation, ranging from small size of a single eye
DE to complete bilateral absence of ocular tissues. Ocular abnormalities
DE like opacities of the cornea and lens, scaring of the retina and
DE choroid, and other abnormalities may also be present.
SY Isolated clinical anophthalmia.
DR MIM; 611038; phenotype.
DR MedGen; C1970237.
DR MeSH; D008850.
KW KW-1013:Microphthalmia.
//
ID Microphthalmia, isolated, 4.
AC DI-02535
AR MCOP4.
DE A disorder of eye formation, ranging from small size of a single eye
DE to complete bilateral absence of ocular tissues. Ocular abnormalities
DE like opacities of the cornea and lens, scaring of the retina and
DE choroid, and other abnormalities may also be present.
SY Isolated clinical anophthalmia.
DR MIM; 613094; phenotype.
DR MedGen; C2751307.
DR MeSH; D008850.
KW KW-1013:Microphthalmia.
//
ID Microphthalmia, isolated, 5.
AC DI-00754
AR MCOP5.
DE A disorder characterized by posterior microphthalmia, retinitis
DE pigmentosa, foveoschisis and optic disk drusen. Microphthalmia is a
DE disorder of eye formation, ranging from small size of a single eye to
DE complete bilateral absence of ocular tissues. Ocular abnormalities
DE like opacities of the cornea and lens, scaring of the retina and
DE choroid, and other abnormalities may also be present.
SY Microphthalmia MFRP-related.
SY Posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disk drusen.
DR MIM; 611040; phenotype.
DR MedGen; C1970236.
DR MeSH; D008850.
KW KW-1013:Microphthalmia.
//
ID Microphthalmia, isolated, 6.
AC DI-02986
AR MCOP6.
DE A developmental ocular disorder characterized by small malformed eyes.
DE Clinical features are extreme hyperopia due to short axial length with
DE essentially normal anterior segment, steep corneal curvatures, shallow
DE anterior chamber, thick lenses, and thickened scleral wall. Palpebral
DE fissures appear narrow because of relatively deep-set eyes, visual
DE acuity is mildly to moderately reduced, and anisometropic or
DE strabismic amblyopia is common. The fundus of the eye shows crowded
DE optical disks, tortuous vessels, and an abnormal foveal avascular
DE zone.
SY Autosomal recessive posterior microphthalmos.
SY Posterior non-syndromic microphthalmia.
DR MIM; 613517; phenotype.
DR MedGen; C3150757.
DR MeSH; D008850.
KW KW-1013:Microphthalmia.
//
ID Microphthalmia, isolated, 7.
AC DI-02974
AR MCOP7.
DE A disorder of eye formation, ranging from small size of a single eye
DE to complete bilateral absence of ocular tissues. Ocular abnormalities
DE like opacities of the cornea and lens, scaring of the retina and
DE choroid, and other abnormalities may also be present.
DR MIM; 613704; phenotype.
DR MedGen; C3150969.
DR MeSH; D008850.
KW KW-1013:Microphthalmia.
//
ID Microphthalmia, isolated, 8.
AC DI-03703
AR MCOP8.
DE A disorder of eye formation, ranging from small size of a single eye
DE to complete bilateral absence of ocular tissues. Ocular abnormalities
DE like opacities of the cornea and lens, scaring of the retina and
DE choroid, and other abnormalities may also be present.
DR MIM; 615113; phenotype.
DR MedGen; C3554524.
DR MedGen; CN168068.
DR MeSH; D008850.
KW KW-1013:Microphthalmia.
//
ID Microphthalmia, isolated, with coloboma, 10.
AC DI-04459
AR MCOPCB10.
DE A disorder of eye formation, ranging from small size of a single eye
DE to complete bilateral absence of ocular tissues. Ocular abnormalities
DE like opacities of the cornea and lens, scaring of the retina and
DE choroid, and other abnormalities may also be present. Ocular colobomas
DE are a set of malformations resulting from abnormal morphogenesis of
DE the optic cup and stalk, and the fusion of the fetal fissure (optic
DE fissure).
DR MIM; 616428; phenotype.
DR MedGen; CN231314.
DR MeSH; D003103.
DR MeSH; D008850.
KW KW-1013:Microphthalmia.
//
ID Microphthalmia, isolated, with coloboma, 3.
AC DI-00759
AR MCOPCB3.
DE A disorder of eye formation, ranging from small size of a single eye
DE to complete bilateral absence of ocular tissues. Ocular abnormalities
DE like opacities of the cornea and lens, scaring of the retina and
DE choroid, and other abnormalities may also be present. Ocular colobomas
DE are a set of malformations resulting from abnormal morphogenesis of
DE the optic cup and stalk, and the fusion of the fetal fissure (optic
DE fissure).
SY Isolated colobomatous microphthalmia 3.
DR MIM; 610092; phenotype.
DR MedGen; C1864721.
DR MeSH; D003103.
DR MeSH; D008850.
KW KW-1013:Microphthalmia.
//
ID Microphthalmia, isolated, with coloboma, 5.
AC DI-00760
AR MCOPCB5.
DE A disorder of eye formation, ranging from small size of a single eye
DE to complete bilateral absence of ocular tissues. Ocular abnormalities
DE like opacities of the cornea and lens, scaring of the retina and
DE choroid, and other abnormalities may also be present. Ocular colobomas
DE are a set of malformations resulting from abnormal morphogenesis of
DE the optic cup and stalk, and the fusion of the fetal fissure (optic
DE fissure).
SY Isolated colobomatous microphthalmia 5.
DR MIM; 611638; phenotype.
DR MedGen; C1968843.
DR MeSH; D003103.
DR MeSH; D008850.
KW KW-1013:Microphthalmia.
//
ID Microphthalmia, isolated, with coloboma, 6.
AC DI-02975
AR MCOPCB6.
DE A disorder of eye formation, ranging from small size of a single eye
DE to complete bilateral absence of ocular tissues. Ocular abnormalities
DE like opacities of the cornea and lens, scaring of the retina and
DE choroid, and other abnormalities may also be present. Ocular colobomas
DE are a set of malformations resulting from abnormal morphogenesis of
DE the optic cup and stalk, and the fusion of the fetal fissure (optic
DE fissure).
SY Isolated colobomatous microphthalmia 6.
DR MIM; 613703; phenotype.
DR MedGen; C3150968.
DR MeSH; D003103.
DR MeSH; D008850.
KW KW-1013:Microphthalmia.
//
ID Microphthalmia, isolated, with coloboma, 7.
AC DI-03384
AR MCOPCB7.
DE A disorder of eye formation, ranging from small size of a single eye
DE to complete bilateral absence of ocular tissues. Ocular abnormalities
DE like opacities of the cornea and lens, scaring of the retina and
DE choroid, and other abnormalities may also be present. Ocular colobomas
DE are a set of malformations resulting from abnormal morphogenesis of
DE the optic cup and stalk, and the fusion of the fetal fissure (optic
DE fissure).
SY Isolated colobomatous microphthalmia 7.
DR MIM; 614497; phenotype.
DR MedGen; C3281027.
DR MeSH; D003103.
DR MeSH; D008850.
KW KW-1013:Microphthalmia.
//
ID Microphthalmia, isolated, with coloboma, 8.
AC DI-03952
AR MCOPCB8.
DE A disorder of eye formation, ranging from small size of a single eye
DE to complete bilateral absence of ocular tissues. Ocular abnormalities
DE like opacities of the cornea and lens, scaring of the retina and
DE choroid, and other abnormalities may also be present. Ocular colobomas
DE are a set of malformations resulting from abnormal morphogenesis of
DE the optic cup and stalk, and the fusion of the fetal fissure (optic
DE fissure).
SY Isolated colobomatous microphthalmia 8.
DR MIM; 601186; phenotype.
DR MedGen; C3540845.
DR MedGen; CN160496.
DR MeSH; D003103.
DR MeSH; D008850.
KW KW-1013:Microphthalmia.
//
ID Microphthalmia, isolated, with coloboma, 9.
AC DI-03704
AR MCOPCB9.
DE A disorder of eye formation, ranging from small size of a single eye
DE to complete bilateral absence of ocular tissues. Ocular abnormalities
DE like opacities of the cornea and lens, scaring of the retina and
DE choroid, and other abnormalities may also be present. Ocular colobomas
DE are a set of malformations resulting from abnormal morphogenesis of
DE the optic cup and stalk, and the fusion of the fetal fissure (optic
DE fissure).
SY Isolated colobomatous microphthalmia 9.
DR MIM; 615145; phenotype.
DR MedGen; C3554592.
DR MedGen; CN168287.
DR MeSH; D003103.
DR MeSH; D008850.
KW KW-1013:Microphthalmia.
//
ID Microphthalmia, syndromic, 1.
AC DI-04013
AR MCOPS1.
DE A rare syndrome defined by the canonical features of unilateral or
DE bilateral microphthalmia or anophthalmia and defects in the skeletal
DE and genitourinary systems. Microphthalmia is a disorder of eye
DE formation, ranging from small size of a single eye to complete
DE bilateral absence of ocular tissues (anophthalmia). In many cases,
DE microphthalmia/anophthalmia occurs in association with syndromes that
DE include non-ocular abnormalities. Anomalies of the digits, teeth, and
DE ears are hallmarks of MCOPS1. Intellectual disability ranges from mild
DE to severe, with self-mutilating behaviors and seizures in severely
DE affected MCOPS1 individuals.
SY ANOP1.
SY Lenz dysplasia.
SY Lenz microphthalmia syndrome.
SY MAA.
SY MCOPS4.
SY Microphthalmia, syndromic 4.
SY Microphthalmia or anophthalmos with associated anomalies.
DR MIM; 309800; phenotype.
DR MedGen; C0796016.
DR MeSH; D008850.
KW KW-1013:Microphthalmia.
//
ID Microphthalmia, syndromic, 11.
AC DI-03496
AR MCOPS11.
DE A rare clinical entity including as main characteristics
DE microphthalmia and small optic nerves, cleft lip and palate, absence
DE of corpus callosum, hippocampal malformations, and absence of the
DE pineal gland. Microphthalmia is a disorder of eye formation, ranging
DE from small size of a single eye to complete bilateral absence of
DE ocular tissues (anophthalmia). In many cases,
DE microphthalmia/anophthalmia occurs in association with syndromes that
DE include non-ocular abnormalities.
SY Microphthalmia with corpus callosum agenesis and orofacial clefting.
DR MIM; 614402; phenotype.
DR MedGen; C3553077.
DR MedGen; CN130950.
DR MeSH; D008850.
KW KW-1013:Microphthalmia.
//
ID Microphthalmia, syndromic, 12.
AC DI-03951
AR MCOPS12.
DE A form of microphthalmia, a disorder of eye formation, ranging from
DE small size of a single eye to complete bilateral absence of ocular
DE tissues (anophthalmia). In many cases, microphthalmia/anophthalmia
DE occurs in association with syndromes that include non-ocular
DE abnormalities. MCOPS12 patients manifest variable features, including
DE diaphragmatic hernia, pulmonary hypoplasia, and cardiac abnormalities.
SY Microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects.
DR MIM; 615524; phenotype.
DR MedGen; C3809803.
DR MedGen; CN181448.
DR MeSH; D008850.
KW KW-1013:Microphthalmia.
//
ID Microphthalmia, syndromic, 13.
AC DI-04169
AR MCOPS13.
DE A form of microphthalmia, a disorder of eye formation, ranging from
DE small size of a single eye to complete bilateral absence of ocular
DE tissues (anophthalmia). In many cases, microphthalmia/anophthalmia
DE occurs in association with syndromes that include non-ocular
DE abnormalities. MCOPS13 patients exhibit colobomatous microphthalmia
DE with microcephaly, short stature, and psychomotor retardation.
SY Colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation.
SY Maine microphthalmos.
DR MIM; 300915; phenotype.
DR MedGen; C3806742.
DR MedGen; CN184217.
DR MeSH; D008850.
KW KW-1013:Microphthalmia.
//
ID Microphthalmia, syndromic, 15.
AC DI-05725
AR MCOPS15.
DE A form of microphthalmia, a disorder of eye formation, ranging from
DE small size of a single eye to complete bilateral absence of ocular
DE tissues (anophthalmia). In many cases, microphthalmia/anophthalmia
DE occurs in association with syndromes that include non-ocular
DE abnormalities. MCOPS15 is characterized by microphthalmia and/or
DE coloboma, with developmental delay in which speech appears to be more
DE severely affected than motor abilities. Additional ocular anomalies
DE that have been observed include ptosis, keyhole-shaped pupils,
DE microcornea, sclerocornea, and anterior segment dysgenesis.
SY Microphthalmia and/or coloboma with developmental delay.
DR MIM; 615145; phenotype.
DR MeSH; D008850.
KW KW-1013:Microphthalmia.
//
ID Microphthalmia, syndromic, 2.
AC DI-00761
AR MCOPS2.
DE A very rare multiple congenital anomaly syndrome characterized by eye
DE anomalies (congenital cataract, microphthalmia, or secondary
DE glaucoma), facial abnormalities (long narrow face, high nasal bridge,
DE pointed nose with cartilages separated at the tip, cleft palate, or
DE submucous cleft palate), cardiac anomalies (atrial septal defect,
DE ventricular septal defect, or floppy mitral valve) and dental
DE abnormalities (canine radiculomegaly, delayed dentition, oligodontia,
DE persistent primary teeth, or variable root length). Microphthalmia is
DE a disorder of eye formation, ranging from small size of a single eye
DE to complete bilateral absence of ocular tissues (anophthalmia). In
DE many cases, microphthalmia/anophthalmia occurs in association with
DE syndromes that include non-ocular abnormalities.
SY Marashi-Gorlin syndrome.
SY Microphthalmia, cataracts, radiculomegaly and septal heart defects.
SY Oculofaciocardiodental syndrome.
SY Oculo-facio-cardio-dental syndrome.
SY OFCD syndrome.
DR MIM; 300166; phenotype.
DR MedGen; C1846265.
DR MedGen; C2931601.
DR MeSH; D008850.
KW KW-1013:Microphthalmia.
//
ID Microphthalmia, syndromic, 3.
AC DI-00762
AR MCOPS3.
DE A disease characterized by the rare association of malformations
DE including uni- or bilateral anophthalmia or microphthalmia, and
DE esophageal atresia with trachoesophageal fistula. Microphthalmia is a
DE disorder of eye formation, ranging from small size of a single eye to
DE complete bilateral absence of ocular tissues (anophthalmia). In many
DE cases, microphthalmia/anophthalmia occurs in association with
DE syndromes that include non-ocular abnormalities.
SY AEG syndrome.
SY Anophthalmia/microphthalmia-esophageal atresia.
SY Anophthalmia-esophageal-genital syndrome.
SY Microphthalmia and esophageal atresia syndrome.
DR MIM; 206900; phenotype.
DR MedGen; C1859773.
DR MedGen; C1859774.
DR MeSH; D004933.
DR MeSH; D008850.
KW KW-1013:Microphthalmia.
//
ID Microphthalmia, syndromic, 5.
AC DI-00763
AR MCOPS5.
DE Patients manifest unilateral or bilateral microphthalmia/clinical
DE anophthalmia and variable additional features including pituitary
DE dysfunction, coloboma, microcornea, cataract, retinal dystrophy,
DE hypoplasia or agenesis of the optic nerve, agenesis of the corpus
DE callosum, developmental delay, joint laxity, hypotonia, and seizures.
DE Microphthalmia is a disorder of eye formation, ranging from small size
DE of a single eye to complete bilateral absence of ocular tissues
DE (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in
DE association with syndromes that include non-ocular abnormalities.
DR MIM; 610125; phenotype.
DR MedGen; C1864690.
DR MedGen; C3149814.
DR MeSH; D008850.
KW KW-1013:Microphthalmia.
//
ID Microphthalmia, syndromic, 6.
AC DI-00764
AR MCOPS6.
DE A disease characterized by microphthalmia/anophthalmia associated with
DE facial, genital, skeletal, neurologic and endocrine anomalies.
DE Microphthalmia is a disorder of eye formation, ranging from small size
DE of a single eye to complete bilateral absence of ocular tissues
DE (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in
DE association with syndromes that include non-ocular abnormalities.
SY Clinical anophthalmia with micrognathia, malformed ears, digital anomalies and abnormal external genitalia.
SY Microphthalmia and pituitary anomalies.
SY Microphthalmia with brain and digit developmental anomalies.
DR MIM; 607932; phenotype.
DR MedGen; C1864689.
DR MeSH; D008850.
KW KW-1013:Microphthalmia.
//
ID Microphthalmia, syndromic, 8.
AC DI-00766
AR MCOPS8.
DE A very rare congenital syndrome characterized by microcephaly,
DE microphthalmia, ectrodactyly of the lower limbs and prognathism.
DE Intellectual deficit has been reported. Microphthalmia is a disorder
DE of eye formation, ranging from small size of a single eye to complete
DE bilateral absence of ocular tissues (anophthalmia). In many cases,
DE microphthalmia/anophthalmia occurs in association with syndromes that
DE include non-ocular abnormalities.
SY Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism.
SY MMEP.
SY MMEP syndrome.
SY Viljoen-Smart syndrome.
DR MIM; 601349; phenotype.
DR MedGen; C1832440.
DR MeSH; D008850.
KW KW-1013:Microphthalmia.
//
ID Microphthalmia, syndromic, 9.
AC DI-00767
AR MCOPS9.
DE A rare clinical entity including as main characteristics anophthalmia
DE or severe microphthalmia, and pulmonary hypoplasia or aplasia.
DE Microphthalmia is a disorder of eye formation, ranging from small size
DE of a single eye to complete bilateral absence of ocular tissues
DE (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in
DE association with syndromes that include non-ocular abnormalities.
SY Anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm.
SY Anophthalmia/microphthalmia and pulmonary hypoplasia.
SY Matthew-Wood syndrome.
SY PDAC.
SY PMD.
SY Pulmonary agenesis, microphthalmia, and diaphragmatic defect.
SY Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect.
SY Spear syndrome.
DR MIM; 601186; phenotype.
DR MedGen; C1832661.
DR MeSH; D008850.
KW KW-1013:Microphthalmia.
//
ID Microphthalmia/coloboma and skeletal dysplasia syndrome.
AC DI-04146
AR MCSKS.
DE A disease characterized by bilateral colobomatous microphthalmia or
DE bilateral anophthalmia, associated with skeletal dysplasia in some
DE cases. Additional ocular findings include microcornea, cataracts,
DE corectopia and nystagmus. Intellectual disability is present in some
DE patients.
SY MCOPS14.
SY Microphthalmia, syndromic, 14.
SY Microphthalmia and/or coloboma, with or without rhizomelic skeletal dysplasia.
DR MIM; 615877; phenotype.
DR MedGen; CN189715.
DR MeSH; D008850.
KW KW-1013:Microphthalmia.
//
ID Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma.
AC DI-02815
AR MSPKA.
DE A rare disease characterized by smaller and more spherical lenses than
DE normal bilaterally, an increased anteroposterior thickness of the
DE lens, and highly myopic eyes. Lens dislocation or subluxation may
DE occur, leading to defective accommodation.
DR MIM; 251750; phenotype.
DR MedGen; C1562061.
DR MedGen; C3538951.
DR MeSH; D007905.
//
ID Microtia with or without hearing impairment.
AC DI-03965
AR MCRT.
DE Microtia is a congenital deformity of the outer ear that is small and
DE abnormally shaped. In classic microtia, the pinna is essentially
DE absent, except for a vertical sausage-shaped skin remnant. The
DE superior aspect of this sausage-shaped skin remnant consists of
DE underlying unorganized cartilage, and the inferior aspect of this
DE remnant consists of a relatively well-formed lobule.
DR MIM; 612290; phenotype.
DR MeSH; D000013.
//
ID Microtia, hearing impairment, and cleft palate.
AC DI-01978
AR MHICP.
DE A disease characterized by microtia, mixed symmetric severe to
DE profound hearing impairment, and partial cleft palate. Microtia is a
DE congenital deformity of the outer ear that is small and abnormally
DE shaped. In classic microtia, the pinna is essentially absent, except
DE for a vertical sausage-shaped skin remnant. The superior aspect of
DE this sausage-shaped skin remnant consists of underlying unorganized
DE cartilage, and the inferior aspect of this remnant consists of a
DE relatively well-formed lobule. Syndromic forms of microtia occur in
DE conjunction with other abnormalities including cleft palate, a
DE congenital fissure of the soft and/or hard palate due to faulty
DE fusion.
DR MIM; 612290; phenotype.
DR MedGen; C2676772.
DR MeSH; D000013.
//
ID Microvascular complications of diabetes 1.
AC DI-02754
AR MVCD1.
DE Pathological conditions that develop in numerous tissues and organs as
DE a consequence of diabetes mellitus. They include diabetic retinopathy,
DE diabetic nephropathy leading to end-stage renal disease, and diabetic
DE neuropathy. Diabetic retinopathy remains the major cause of new-onset
DE blindness among diabetic adults. It is characterized by vascular
DE permeability and increased tissue ischemia and angiogenesis.
SY Diabetic end-stage renal disease.
SY Diabetic nephropathy.
SY Diabetic neuropathy.
SY Non-proliferative diabetic retinopathy.
SY Proliferative diabetic retinopathy.
DR MIM; 603933; phenotype.
DR MedGen; C2676832.
DR MedGen; C2676833.
DR MedGen; C2676834.
DR MedGen; C2676835.
DR MedGen; C2676836.
DR MedGen; C2676837.
DR MedGen; C2676838.
DR MedGen; C2676839.
DR MeSH; D048909.
//
ID Microvascular complications of diabetes 2.
AC DI-02755
AR MVCD2.
DE Pathological conditions that develop in numerous tissues and organs as
DE a consequence of diabetes mellitus. They include diabetic retinopathy,
DE diabetic nephropathy leading to end-stage renal disease, and diabetic
DE neuropathy. Diabetic retinopathy remains the major cause of new-onset
DE blindness among diabetic adults. It is characterized by vascular
DE permeability and increased tissue ischemia and angiogenesis.
SY Diabetic end-stage renal disease.
SY Diabetic nephropathy.
SY Proliferative diabetic retinopathy.
DR MIM; 612623; phenotype.
DR MedGen; C2675471.
DR MedGen; CN031982.
DR MeSH; D048909.
//
ID Microvascular complications of diabetes 3.
AC DI-02756
AR MVCD3.
DE Pathological conditions that develop in numerous tissues and organs as
DE a consequence of diabetes mellitus. They include diabetic retinopathy,
DE diabetic nephropathy leading to end-stage renal disease, and diabetic
DE neuropathy. Diabetic retinopathy remains the major cause of new-onset
DE blindness among diabetic adults. It is characterized by vascular
DE permeability and increased tissue ischemia and angiogenesis.
SY Diabetic end-stage renal disease.
SY Diabetic nephropathy.
DR MIM; 612624; phenotype.
DR MedGen; C2675470.
DR MedGen; CN031587.
DR MeSH; D048909.
//
ID Microvascular complications of diabetes 4.
AC DI-02757
AR MVCD4.
DE Pathological conditions that develop in numerous tissues and organs as
DE a consequence of diabetes mellitus. They include diabetic retinopathy,
DE diabetic nephropathy leading to end-stage renal disease, and diabetic
DE neuropathy. Diabetic retinopathy remains the major cause of new-onset
DE blindness among diabetic adults. It is characterized by vascular
DE permeability and increased tissue ischemia and angiogenesis.
SY Diabetic nephropathy.
DR MIM; 612628; phenotype.
DR MedGen; C2675112.
DR MedGen; CN034316.
DR MeSH; D048909.
//
ID Microvascular complications of diabetes 5.
AC DI-02758
AR MVCD5.
DE Pathological conditions that develop in numerous tissues and organs as
DE a consequence of diabetes mellitus. They include diabetic retinopathy,
DE diabetic nephropathy leading to end-stage renal disease, and diabetic
DE neuropathy. Diabetic retinopathy remains the major cause of new-onset
DE blindness among diabetic adults. It is characterized by vascular
DE permeability and increased tissue ischemia and angiogenesis.
SY Diabetic nephropathy.
DR MIM; 612633; phenotype.
DR MedGen; C2674665.
DR MeSH; D048909.
//
ID Microvascular complications of diabetes 6.
AC DI-02759
AR MVCD6.
DE Pathological conditions that develop in numerous tissues and organs as
DE a consequence of diabetes mellitus. They include diabetic retinopathy,
DE diabetic nephropathy leading to end-stage renal disease, and diabetic
DE neuropathy. Diabetic retinopathy remains the major cause of new-onset
DE blindness among diabetic adults. It is characterized by vascular
DE permeability and increased tissue ischemia and angiogenesis.
SY Diabetic nephropathy.
DR MIM; 612634; phenotype.
DR MedGen; C2675128.
DR MedGen; CN031984.
DR MeSH; D048909.
//
ID Microvascular complications of diabetes 7.
AC DI-02760
AR MVCD7.
DE Pathological conditions that develop in numerous tissues and organs as
DE a consequence of diabetes mellitus. They include diabetic retinopathy,
DE diabetic nephropathy leading to end-stage renal disease, and diabetic
DE neuropathy. Diabetic retinopathy remains the major cause of new-onset
DE blindness among diabetic adults. It is characterized by vascular
DE permeability and increased tissue ischemia and angiogenesis.
SY Diabetic nephropathy.
SY Diabetic non-proliferative retinopathy.
SY Diabetic proliferative retinopathy.
DR MIM; 612635; phenotype.
DR MedGen; C2673520.
DR MedGen; CN034317.
DR MeSH; D048909.
//
ID Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis.
AC DI-04939
AR MFHIEN.
DE An X-linked recessive disorder with onset in early childhood,
DE characterized by midface hypoplasia, hearing impairment,
DE elliptocytosis, and nephrocalcinosis. Variable clinical features
DE include anemia, and mild early motor or speech delay.
DR MIM; 300990; phenotype.
DR MedGen; CN240369.
DR MeSH; D000015.
KW KW-0209:Deafness.
KW KW-0250:Elliptocytosis.
//
ID Migraine with or without aura 13.
AC DI-02934
AR MGR13.
DE A form of migraine transmitted in an autosomal dominant pattern.
DE Migraine is a disabling symptom complex of periodic headaches, usually
DE temporal and unilateral. Headaches are often accompanied by
DE irritability, nausea, vomiting and photophobia, preceded by
DE constriction of the cranial arteries. The two major subtypes are
DE common migraine (migraine without aura) and classic migraine (migraine
DE with aura). Classic migraine is characterized by recurrent attacks of
DE reversible neurological symptoms (aura) that precede or accompany the
DE headache. Aura may include a combination of sensory disturbances, such
DE as blurred vision, hallucinations, vertigo, numbness and difficulty in
DE concentrating and speaking.
DR MIM; 613656; phenotype.
DR MedGen; C3150908.
DR MeSH; D020325.
DR MeSH; D020326.
//
ID Migraine, familial hemiplegic, 1.
AC DI-01570
AR FHM1.
DE A subtype of migraine with aura associated with ictal hemiparesis and,
DE in some families, cerebellar ataxia and atrophy. Migraine is a
DE disabling symptom complex of periodic headaches, usually temporal and
DE unilateral. Headaches are often accompanied by irritability, nausea,
DE vomiting and photophobia, preceded by constriction of the cranial
DE arteries. Migraine with aura is characterized by recurrent attacks of
DE reversible neurological symptoms (aura) that precede or accompany the
DE headache. Aura may include a combination of sensory disturbances, such
DE as blurred vision, hallucinations, vertigo, numbness and difficulty in
DE concentrating and speaking.
SY FHM.
SY MHP1.
SY Migraine familial hemiplegic with progressive cerebellar ataxia.
DR MIM; 141500; phenotype.
DR MedGen; C1832884.
DR MedGen; C1832894.
DR MedGen; C1832903.
DR MeSH; D020325.
//
ID Migraine, familial hemiplegic, 2.
AC DI-01571
AR FHM2.
DE A subtype of migraine with aura associated with hemiparesis in some
DE families. Migraine is a disabling symptom complex of periodic
DE headaches, usually temporal and unilateral. Headaches are often
DE accompanied by irritability, nausea, vomiting and photophobia,
DE preceded by constriction of the cranial arteries. Migraine with aura
DE is characterized by recurrent attacks of reversible neurological
DE symptoms (aura) that precede or accompany the headache. Aura may
DE include a combination of sensory disturbances, such as blurred vision,
DE hallucinations, vertigo, numbness and difficulty in concentrating and
DE speaking.
SY Familiar basilar migraine.
SY MHP2.
DR MIM; 602481; phenotype.
DR MedGen; C1865322.
DR MedGen; C1865323.
DR MeSH; D020325.
//
ID Migraine, familial hemiplegic, 3.
AC DI-01572
AR FHM3.
DE A subtype of migraine associated with transient blindness in some
DE families. Migraine is a disabling symptom complex of periodic
DE headaches, usually temporal and unilateral. Headaches are often
DE accompanied by irritability, nausea, vomiting and photophobia,
DE preceded by constriction of the cranial arteries. The two major
DE subtypes are common migraine (migraine without aura) and classic
DE migraine (migraine with aura). Classic migraine is characterized by
DE recurrent attacks of reversible neurological symptoms (aura) that
DE precede or accompany the headache. Aura may include a combination of
DE sensory disturbances, such as blurred vision, hallucinations, vertigo,
DE numbness and difficulty in concentrating and speaking.
SY MHP3.
DR MIM; 609634; phenotype.
DR MedGen; C1864987.
DR MeSH; D020325.
//
ID Miller-Dieker lissencephaly syndrome.
AC DI-00769
AR MDLS.
DE A contiguous gene deletion syndrome of chromosome 17p13.3,
DE characterized by classical lissencephaly and distinct facial features.
DE Additional congenital malformations can be part of the condition.
DR MIM; 247200; phenotype.
DR MedGen; C0265219.
DR MeSH; D054221.
KW KW-0451:Lissencephaly.
//
ID MIRAGE syndrome.
AC DI-04777
AR MIRAGE.
DE A form of syndromic adrenal hypoplasia characterized by
DE myelodysplasia, infection, restriction of growth, adrenal hypoplasia,
DE genital phenotypes, and enteropathy.
SY Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy.
DR MIM; 617053; phenotype.
DR MedGen; CN237816.
DR MeSH; D000309.
DR MeSH; D001855.
DR MeSH; D006130.
//
ID Mirror movements 1.
AC DI-02833
AR MRMV1.
DE A disorder characterized by contralateral involuntary movements that
DE mirror voluntary ones. While mirror movements are occasionally found
DE in young children, persistence beyond the age of 10 is abnormal.
DE Mirror movements occur more commonly in the upper extremities. Some
DE MRMV1 patients have agenesis of the corpus callosum.
SY Bimanual synergia.
SY Congenital mirror movements.
SY Mirror movements 1 and/or agenesis of the corpus callosum.
DR MIM; 157600; phenotype.
DR MedGen; C1834870.
DR MeSH; D020820.
//
ID Mirror movements 2.
AC DI-03399
AR MRMV2.
DE A disorder characterized by contralateral involuntary movements that
DE mirror voluntary ones. While mirror movements are occasionally found
DE in young children, persistence beyond the age of 10 is abnormal.
DE Mirror movements occur more commonly in the upper extremities.
DR MIM; 614508; phenotype.
DR MedGen; C3281089.
DR MeSH; D020820.
//
ID Mirror movements 3.
AC DI-04270
AR MRMV3.
DE A disorder characterized by contralateral involuntary movements that
DE mirror voluntary ones. While mirror movements are occasionally found
DE in young children, persistence beyond the age of 10 is abnormal.
DE Mirror movements occur more commonly in the upper extremities.
DR MIM; 616059; phenotype.
DR MedGen; CN220783.
DR MeSH; D020820.
//
ID Mirror movements 4.
AC DI-05444
AR MRMV4.
DE A disorder characterized by contralateral involuntary movements that
DE mirror voluntary ones. While mirror movements are occasionally found
DE in young children, persistence beyond the age of 10 is abnormal.
DE Mirror movements occur more commonly in the upper extremities. MRMV4
DE inheritance is autosomal dominant.
DR MIM; 618264; phenotype.
DR MedGen; CN258051.
DR MeSH; D020820.
//
ID Mismatch repair cancer syndrome 1.
AC DI-01980
AR MMRCS1.
DE An autosomal recessive form of mismatch repair cancer syndrome, a
DE childhood cancer predisposition syndrome encompassing a broad tumor
DE spectrum. This includes hematological malignancies, central nervous
DE system tumors, Lynch syndrome-associated malignancies such as
DE colorectal tumors as well as multiple intestinal polyps, embryonic
DE tumors and rhabdomyosarcoma. Multiple cafe-au-lait macules, a feature
DE reminiscent of neurofibromatosis type 1, are often found as first
DE manifestation of the underlying cancer.
SY Brain tumor-polyposis syndrome 1.
SY BTP1 syndrome.
SY BTPS1.
SY Childhood cancer syndrome.
SY CMMRDS.
SY Constitutional mismatch repair deficiency syndrome.
SY Mismatch repair deficiency.
SY MMR deficiency.
SY Turcot syndrome.
DR MIM; 276300; phenotype.
DR MedGen; C0265325.
DR MeSH; D009386.
//
ID Mismatch repair cancer syndrome 2.
AC DI-05969
AR MMRCS2.
DE An autosomal recessive form of mismatch repair cancer syndrome, a
DE childhood cancer predisposition syndrome encompassing a broad tumor
DE spectrum. This includes hematological malignancies, central nervous
DE system tumors, Lynch syndrome-associated malignancies such as
DE colorectal tumors as well as multiple intestinal polyps, embryonic
DE tumors and rhabdomyosarcoma. Multiple cafe-au-lait macules, a feature
DE reminiscent of neurofibromatosis type 1, are often found as first
DE manifestation of the underlying cancer.
DR MIM; 619096; phenotype.
DR MedGen; CN293538.
DR MeSH; D009386.
//
ID Mismatch repair cancer syndrome 3.
AC DI-05970
AR MMRCS3.
DE An autosomal recessive form of mismatch repair cancer syndrome, a
DE childhood cancer predisposition syndrome encompassing a broad tumor
DE spectrum. This includes hematological malignancies, central nervous
DE system tumors, Lynch syndrome-associated malignancies such as
DE colorectal tumors as well as multiple intestinal polyps, embryonic
DE tumors and rhabdomyosarcoma. Multiple cafe-au-lait macules, a feature
DE reminiscent of neurofibromatosis type 1, are often found as first
DE manifestation of the underlying cancer.
DR MIM; 619097; phenotype.
DR MedGen; CN293539.
DR MeSH; D009386.
//
ID Mismatch repair cancer syndrome 4.
AC DI-05971
AR MMRCS4.
DE An autosomal recessive form of mismatch repair cancer syndrome, a
DE childhood cancer predisposition syndrome encompassing a broad tumor
DE spectrum. This includes hematological malignancies, central nervous
DE system tumors, Lynch syndrome-associated malignancies such as
DE colorectal tumors as well as multiple intestinal polyps, embryonic
DE tumors and rhabdomyosarcoma. Multiple cafe-au-lait macules, a feature
DE reminiscent of neurofibromatosis type 1, are often found as first
DE manifestation of the underlying cancer.
DR MIM; 619101; phenotype.
DR MedGen; CN293540.
DR MeSH; D009386.
//
ID Mitchell syndrome.
AC DI-05884
AR MITCH.
DE A disorder characterized by episodic demyelination, sensorimotor
DE polyneuropathy, and sensorineural hearing loss.
DR MIM; 618960; phenotype.
DR MedGen; CN283287.
DR MeSH; D002607.
DR MeSH; D015418.
KW KW-0209:Deafness.
KW KW-0622:Neuropathy.
//
ID Mitchell-Riley syndrome.
AC DI-02515
AR MTCHRS.
DE A disorder characterized by neonatal diabetes, hypoplastic or annular
DE pancreas, duodenal and jejunal atresia, and absent gallbladder. There
DE is no dysmorphic features.
SY Diabetes neonatal with pancreatic hypoplasia intestinal atresia and gallbladder aplasia or hypoplasia.
DR MIM; 615710; phenotype.
DR MedGen; C2748662.
DR MeSH; D004066.
//
ID Mitochondrial complex I deficiency, mitochondrial type 1.
AC DI-05429
AR MC1DM1.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease.
DR MIM; 500014; phenotype.
DR MedGen; CN257501.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 1.
AC DI-01981
AR MC1DN1.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease.
SY Complex I mitochondrial respiratory chain deficiency.
SY Deficiency of mitochondrial NADH dehydrogenase component of complex I.
SY Mitochondrial complex I deficiency.
SY NADH:Q(1) oxidoreductase deficiency.
SY NADH:Ubiquinone oxidoreductase deficiency.
SY NADH-Coenzyme Q reductase deficiency.
DR MIM; 252010; phenotype.
DR MedGen; C2936907.
DR MedGen; CN257533.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 10.
AC DI-05408
AR MC1DN10.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease. MC1DN10 transmission pattern is consistent with
DE autosomal recessive inheritance.
DR MIM; 618233; phenotype.
DR MedGen; CN257505.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 11.
AC DI-05409
AR MC1DN11.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease. MC1DN11 transmission pattern is consistent with
DE autosomal recessive inheritance.
DR MIM; 618234; phenotype.
DR MedGen; CN257506.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 12.
AC DI-05399
AR MC1DN12.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease.
DR MIM; 301020; phenotype.
DR MedGen; CN257499.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 13.
AC DI-05410
AR MC1DN13.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease. MC1DN13 transmission pattern is consistent with
DE autosomal recessive inheritance.
DR MIM; 618235; phenotype.
DR MedGen; CN257507.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 14.
AC DI-05411
AR MC1DN14.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease. MC1DN14 transmission pattern is consistent with
DE autosomal recessive inheritance.
DR MIM; 618236; phenotype.
DR MedGen; CN257513.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 15.
AC DI-05412
AR MC1DN15.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease. MC1DN15 transmission pattern is consistent with
DE autosomal recessive inheritance.
DR MIM; 618237; phenotype.
DR MedGen; CN257514.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 16.
AC DI-05413
AR MC1DN16.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease. MC1DN16 transmission pattern is consistent with
DE autosomal recessive inheritance.
DR MIM; 618238; phenotype.
DR MedGen; CN257515.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 17.
AC DI-05414
AR MC1DN17.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease. MC1DN17 transmission pattern is consistent with
DE autosomal recessive inheritance.
DR MIM; 618239; phenotype.
DR MedGen; CN257516.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 18.
AC DI-05415
AR MC1DN18.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease. MC1DN18 transmission pattern is consistent with
DE autosomal recessive inheritance.
DR MIM; 618240; phenotype.
DR MedGen; CN257517.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 19.
AC DI-05416
AR MC1DN19.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease. MC1DN19 transmission pattern is consistent with
DE autosomal recessive inheritance.
DR MIM; 618241; phenotype.
DR MedGen; CN257518.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 2.
AC DI-05401
AR MC1DN2.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease. MC1DN2 inheritance is autosomal recessive.
DR MIM; 618222; phenotype.
DR MedGen; CN257508.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 20.
AC DI-01173
AR MC1DN20.
DE An autosomal recessive metabolic disorder associated with
DE mitochondrial complex I deficiency, resulting in multisystemic and
DE variable manifestations. Clinical features include infantile onset of
DE acute metabolic acidosis, Reye-like episodes (brain edema and vomiting
DE that may rapidly progress to seizures, coma and death), exercise
DE intolerance, hypertrophic cardiomyopathy, liver failure, muscle
DE weakness, and neurologic dysfunction.
SY ACAD9 deficiency.
SY Acyl-CoA dehydrogenase family, member 9, deficiency.
SY Mitochondrial complex I deficiency due to ACAD9 deficiency.
DR MIM; 611126; phenotype.
DR MedGen; C1970173.
DR MeSH; D008661.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 21.
AC DI-05417
AR MC1DN21.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease. MC1DN21 transmission pattern is consistent with
DE autosomal recessive inheritance.
DR MIM; 618242; phenotype.
DR MedGen; CN257519.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 22.
AC DI-05418
AR MC1DN22.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease. MC1DN22 transmission pattern is consistent with
DE autosomal recessive inheritance.
DR MIM; 618243; phenotype.
DR MedGen; CN257520.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 23.
AC DI-05419
AR MC1DN23.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease. MC1DN23 transmission pattern is consistent with
DE autosomal recessive inheritance.
DR MIM; 618244; phenotype.
DR MedGen; CN257521.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 24.
AC DI-05420
AR MC1DN24.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease. MC1DN24 transmission pattern is consistent with
DE autosomal recessive inheritance.
DR MIM; 618245; phenotype.
DR MedGen; CN257522.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 25.
AC DI-05421
AR MC1DN25.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease. MC1DN25 transmission pattern is consistent with
DE autosomal recessive inheritance.
DR MIM; 618246; phenotype.
DR MedGen; CN257523.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 26.
AC DI-05422
AR MC1DN26.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease. MC1DN26 transmission pattern is consistent with
DE autosomal recessive inheritance.
DR MIM; 618247; phenotype.
DR MedGen; CN257524.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 27.
AC DI-05423
AR MC1DN27.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease. MC1DN27 transmission pattern is consistent with
DE autosomal recessive inheritance.
DR MIM; 618248; phenotype.
DR MedGen; CN257525.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 28.
AC DI-05424
AR MC1DN28.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease. MC1DN28 transmission pattern is consistent with
DE autosomal recessive inheritance.
DR MIM; 618249; phenotype.
DR MedGen; CN257526.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 29.
AC DI-05425
AR MC1DN29.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease. MC1DN29 transmission pattern is consistent with
DE autosomal recessive inheritance.
DR MIM; 618250; phenotype.
DR MedGen; CN257527.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 3.
AC DI-05402
AR MC1DN3.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease. MC1DN3 transmission pattern is consistent with
DE autosomal recessive inheritance.
DR MIM; 618224; phenotype.
DR MedGen; CN257509.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 30.
AC DI-05400
AR MC1DN30.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease.
DR MIM; 301021; phenotype.
DR MedGen; CN257500.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 31.
AC DI-05426
AR MC1DN31.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease. MC1DN31 transmission pattern is consistent with
DE autosomal recessive inheritance.
DR MIM; 618251; phenotype.
DR MedGen; CN257528.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 32.
AC DI-05427
AR MC1DN32.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease. MC1DN32 transmission pattern is consistent with
DE autosomal recessive inheritance.
DR MIM; 618252; phenotype.
DR MedGen; CN257529.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 33.
AC DI-05428
AR MC1DN33.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease. MC1DN33 transmission pattern is consistent with
DE autosomal recessive inheritance.
DR MIM; 618253; phenotype.
DR MedGen; CN257530.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 34.
AC DI-05760
AR MC1DN34.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease. MC1DN34 transmission pattern is consistent with
DE autosomal recessive inheritance.
DR MIM; 618776; phenotype.
DR MedGen; CN263285.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 35.
AC DI-05907
AR MC1DN35.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease. MC1DN35 transmission pattern is consistent with
DE autosomal recessive inheritance.
DR MIM; 619003; phenotype.
DR MedGen; CN283350.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 36.
AC DI-06016
AR MC1DN36.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease. MC1DN36 is characterized by global developmental
DE delay, hypotonia, and failure to thrive apparent from infancy or early
DE childhood. Affected individuals usually do not acquire ambulation,
DE show progressive spasticity, and have impaired intellectual
DE development with absent speech. MC1DN36 transmission pattern is
DE consistent with autosomal recessive inheritance.
DR MIM; 619170; phenotype.
DR MedGen; CN295239.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 37.
AC DI-06080
AR MC1DN37.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease. MC1DN37 features include developmental delay,
DE cerebral atrophy, epilepsy, growth retardation, congenital myopathy
DE with disproportion of fibers, and severely decreased activity of
DE complex I. MC1DN37 transmission pattern is consistent with autosomal
DE recessive inheritance.
DR MIM; 619272; phenotype.
DR MedGen; CN296338.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 4.
AC DI-05403
AR MC1DN4.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease. MC1DN4 transmission pattern is consistent with
DE autosomal recessive inheritance.
DR MIM; 618225; phenotype.
DR MedGen; CN257510.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 5.
AC DI-05404
AR MC1DN5.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease. MC1DN5 transmission pattern is consistent with
DE autosomal recessive inheritance.
DR MIM; 618226; phenotype.
DR MedGen; CN257511.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 6.
AC DI-05405
AR MC1DN6.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease. MC1DN6 transmission pattern is consistent with
DE autosomal recessive inheritance.
DR MIM; 618228; phenotype.
DR MedGen; CN257512.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 7.
AC DI-05406
AR MC1DN7.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease. MC1DN7 transmission pattern is consistent with
DE autosomal recessive inheritance.
DR MIM; 618229; phenotype.
DR MedGen; CN257502.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 8.
AC DI-05398
AR MC1DN8.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease. MC1DN8 transmission pattern is consistent with
DE autosomal recessive inheritance.
DR MIM; 618230; phenotype.
DR MedGen; CN257503.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex I deficiency, nuclear type 9.
AC DI-05407
AR MC1DN9.
DE A form of mitochondrial complex I deficiency, the most common
DE biochemical signature of mitochondrial disorders, a group of highly
DE heterogeneous conditions characterized by defective oxidative
DE phosphorylation, which collectively affects 1 in 5-10000 live births.
DE Clinical disorders have variable severity, ranging from lethal
DE neonatal disease to adult-onset neurodegenerative disorders.
DE Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE Parkinson disease. MC1DN9 transmission pattern is consistent with
DE autosomal recessive inheritance.
DR MIM; 618232; phenotype.
DR MedGen; CN257504.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex II deficiency, nuclear type 1.
AC DI-01380
AR MC2DN1.
DE A disorder of the mitochondrial respiratory chain with heterogeneous
DE clinical manifestations. Clinical features include psychomotor
DE regression in infants, poor growth with lack of speech development,
DE severe spastic quadriplegia, dystonia, progressive
DE leukoencephalopathy, muscle weakness, exercise intolerance,
DE cardiomyopathy. Some patients manifest Leigh syndrome or Kearns-Sayre
DE syndrome. MC2DN1 inheritance is autosomal recessive.
SY Complex 2 mitochondrial respiratory chain deficiency.
SY Complex II mitochondrial respiratory chain deficiency.
SY SDH-defective infantile leukoencephalopathy.
SY Succinate CoQ reductase deficiency.
SY Succinate dehydrogenase deficiency.
DR MIM; 252011; phenotype.
DR MedGen; C1855008.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex II deficiency, nuclear type 2.
AC DI-06014
AR MC2DN2.
DE A form of mitochondrial complex II deficiency, a disorder with
DE heterogeneous clinical manifestations. Some patients have multisystem
DE involvement of the brain, heart, muscle, liver, and kidneys resulting
DE in death in infancy, whereas others have only isolated cardiac or
DE muscle involvement with onset in adulthood and normal cognition.
DE Clinical features include psychomotor regression in infants, poor
DE growth with lack of speech development, severe spastic quadriplegia,
DE dystonia, progressive leukoencephalopathy, muscle weakness, exercise
DE intolerance, cardiomyopathy. Some patients manifest Leigh syndrome or
DE Kearns-Sayre syndrome. MC2DN2 inheritance is autosomal recessive.
DR MIM; 619166; phenotype.
DR MedGen; CN295237.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex II deficiency, nuclear type 3.
AC DI-06015
AR MC2DN3.
DE A form of mitochondrial complex II deficiency, a disorder with
DE heterogeneous clinical manifestations. Some patients have multisystem
DE involvement of the brain, heart, muscle, liver, and kidneys resulting
DE in death in infancy, whereas others have only isolated cardiac or
DE muscle involvement with onset in adulthood and normal cognition.
DE Clinical features include psychomotor regression in infants, poor
DE growth with lack of speech development, severe spastic quadriplegia,
DE dystonia, progressive leukoencephalopathy, muscle weakness, exercise
DE intolerance, cardiomyopathy. Some patients manifest Leigh syndrome or
DE Kearns-Sayre syndrome. MC2DN3 inheritance is autosomal recessive.
DR MIM; 619167; phenotype.
DR MedGen; CN295238.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex II deficiency, nuclear type 4.
AC DI-06039
AR MC2DN4.
DE A form of mitochondrial complex II deficiency, a disorder with
DE heterogeneous clinical manifestations. Some patients have multisystem
DE involvement of the brain, heart, muscle, liver, and kidneys resulting
DE in death in infancy, whereas others have only isolated cardiac or
DE muscle involvement with onset in adulthood and normal cognition.
DE Clinical features include psychomotor regression in infants, poor
DE growth with lack of speech development, severe spastic quadriplegia,
DE dystonia, progressive leukoencephalopathy, muscle weakness, exercise
DE intolerance, cardiomyopathy. Some patients manifest Leigh syndrome or
DE Kearns-Sayre syndrome. MC2DN4 is a severe, autosomal recessive form
DE characterized by early-onset progressive neurodegeneration with
DE leukoencephalopathy.
DR MIM; 619224; phenotype.
DR MedGen; CN295804.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex III deficiency, nuclear 1.
AC DI-01982
AR MC3DN1.
DE A disorder of the mitochondrial respiratory chain resulting in a
DE highly variable phenotype depending on which tissues are affected.
DE Clinical features include mitochondrial encephalopathy, psychomotor
DE retardation, ataxia, severe failure to thrive, liver dysfunction,
DE renal tubulopathy, muscle weakness and exercise intolerance.
SY Complex 3 mitochondrial respiratory chain deficiency.
SY Complex III mitochondrial respiratory chain deficiency.
DR MIM; 124000; phenotype.
DR MedGen; C1852372.
DR MedGen; C3541471.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex III deficiency, nuclear 10.
AC DI-05759
AR MC3DN10.
DE A form of mitochondrial complex III deficiency, a disorder of the
DE mitochondrial respiratory chain resulting in a highly variable
DE phenotype depending on which tissues are affected. MC3DN10 is an
DE autosomal recessive form characterized by fetal bradycardia, poor
DE feeding, hypotonia, hypertrophic cardiomyopathy, alopecia totalis, low
DE mitochondrial complex III activity and lactic acidosis.
SY Mitochondrial complex III deficiency, nuclear type 10.
DR MIM; 618775; phenotype.
DR MedGen; CN263279.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex III deficiency, nuclear 2.
AC DI-03738
AR MC3DN2.
DE A disorder of the mitochondrial respiratory chain resulting in a
DE highly variable phenotype depending on which tissues are affected.
DE Clinical features include mitochondrial encephalopathy, psychomotor
DE retardation, ataxia, severe failure to thrive, liver dysfunction,
DE renal tubulopathy, muscle weakness and exercise intolerance.
DR MIM; 615157; phenotype.
DR MedGen; C3554605.
DR MedGen; CN169526.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex III deficiency, nuclear 3.
AC DI-03736
AR MC3DN3.
DE A disorder of the mitochondrial respiratory chain resulting in a
DE highly variable phenotype depending on which tissues are affected.
DE Clinical features include mitochondrial encephalopathy, psychomotor
DE retardation, ataxia, severe failure to thrive, liver dysfunction,
DE renal tubulopathy, muscle weakness and exercise intolerance.
DR MIM; 615158; phenotype.
DR MedGen; C3554606.
DR MedGen; CN177727.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex III deficiency, nuclear 4.
AC DI-03737
AR MC3DN4.
DE A disorder of the mitochondrial respiratory chain resulting in a
DE highly variable phenotype depending on which tissues are affected.
DE Clinical features include mitochondrial encephalopathy, psychomotor
DE retardation, ataxia, severe failure to thrive, liver dysfunction,
DE renal tubulopathy, muscle weakness and exercise intolerance.
DR MIM; 615159; phenotype.
DR MedGen; C3554607.
DR MedGen; CN169525.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex III deficiency, nuclear 5.
AC DI-03739
AR MC3DN5.
DE A disorder of the mitochondrial respiratory chain resulting in a
DE highly variable phenotype depending on which tissues are affected.
DE Clinical features include mitochondrial encephalopathy, psychomotor
DE retardation, ataxia, severe failure to thrive, liver dysfunction,
DE renal tubulopathy, muscle weakness and exercise intolerance.
DR MIM; 615160; phenotype.
DR MedGen; C3554608.
DR MedGen; CN169524.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex III deficiency, nuclear 6.
AC DI-03905
AR MC3DN6.
DE An autosomal recessive disorder caused by mitochondrial dysfunction.
DE It is characterized by onset in early childhood of episodic acute
DE lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia,
DE usually associated with infection. Laboratory studies show decreased
DE activity of mitochondrial complex III. Psychomotor development is
DE normal.
DR MIM; 615453; phenotype.
DR MedGen; C3809553.
DR MedGen; CN180180.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex III deficiency, nuclear 7.
AC DI-04118
AR MC3DN7.
DE A form of mitochondrial complex III deficiency, a disorder of the
DE mitochondrial respiratory chain resulting in a highly variable
DE phenotype depending on which tissues are affected. MC3DN7 is
DE characterized by severe intrauterine growth retardation, neonatal
DE lactic acidosis and renal tubular dysfunction. Additional clinical
DE features include a dysmorphic facial appearance, delayed psychomotor
DE development, autistic features, aggressive behavior, and mild
DE sensorineural hearing loss.
DR MIM; 615824; phenotype.
DR MedGen; CN188214.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex III deficiency, nuclear 8.
AC DI-04116
AR MC3DN8.
DE A form of mitochondrial complex III deficiency, a disorder of the
DE mitochondrial respiratory chain resulting in a highly variable
DE phenotype depending on which tissues are affected. Clinical features
DE include mitochondrial encephalopathy, psychomotor retardation, ataxia,
DE severe failure to thrive, liver dysfunction, renal tubulopathy, muscle
DE weakness and exercise intolerance.
DR MIM; 615838; phenotype.
DR MedGen; CN188725.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex III deficiency, nuclear 9.
AC DI-04284
AR MC3DN9.
DE A form of mitochondrial complex III deficiency, a disorder of the
DE mitochondrial respiratory chain resulting in a highly variable
DE phenotype depending on which tissues are affected. MC3DN9 clinical
DE features include feeding difficulties, hypoglycemia, severe lactic
DE acidosis, and delayed psychomotor development.
SY Mitochondrial complex III deficiency, nuclear type 9.
DR MIM; 616111; phenotype.
DR MedGen; CN221539.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex IV deficiency.
AC DI-01469
AR MT-C4D.
DE A disorder of the mitochondrial respiratory chain with heterogeneous
DE clinical manifestations, ranging from isolated myopathy to severe
DE multisystem disease affecting several tissues and organs. Features
DE include hypertrophic cardiomyopathy, hepatomegaly and liver
DE dysfunction, hypotonia, muscle weakness, exercise intolerance,
DE developmental delay, delayed motor development and intellectual
DE disability. Some affected individuals manifest a fatal hypertrophic
DE cardiomyopathy resulting in neonatal death. A subset of patients
DE manifest Leigh syndrome.
SY Complex 4 mitochondrial respiratory chain deficiency.
SY Complex IV mitochondrial respiratory chain deficiency.
SY COX deficiency.
SY Cytochrome c oxidase deficiency.
SY Lethal neonatal cardiomyopathy hypertrophic due to cytochrome c oxidase deficiency.
DR MIM; 220110; phenotype.
DR MedGen; C0268237.
DR MeSH; D030401.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex IV deficiency, nuclear type 1.
AC DI-05950
AR MC4DN1.
DE An autosomal recessive disorder of the mitochondrial respiratory chain
DE characterized by early-onset, rapidly progressive encephalopathy,
DE neurodegeneration, and loss of motor and cognitive skills. Affected
DE individuals show hypotonia, failure to thrive, loss of the ability to
DE sit or walk, poor communication, poor eye contact, oculomotor
DE abnormalities, as well as deafness, ataxia, tremor, and brisk tendon
DE reflexes. Brain imaging shows bilateral symmetric lesions in the basal
DE ganglia. Lactate levels in serum and cerebrospinal fluid are
DE increased. Patient tissues show decreased levels and activity of
DE mitochondrial respiratory complex IV. Death in childhood may occur,
DE often due to central respiratory failure.
DR MIM; 220110; phenotype.
DR MedGen; C0268237.
DR MeSH; D030401.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex IV deficiency, nuclear type 10.
AC DI-05932
AR MC4DN10.
DE An autosomal recessive mitochondrial disorder that manifests with
DE neonatal neurological and respiratory distress. Clinical features
DE include facial dysmorphism, hypotelorism, microphthalmia, an ogival
DE palate, and severe metabolic acidosis. Death occurs in early infancy.
DE Autoptic examination reveals brain hypertrophy, diffuse alteration of
DE white matter myelination, numerous cavities in the parieto-occipital
DE region, brainstem and cerebellum, as well as hepatomegaly,
DE hypertrophic cardiomyopathy, renal hypoplasia, and adrenal
DE hyperplasia. Patient tissues show decreased levels and activity of
DE mitochondrial respiratory complex IV.
DR MIM; 619053; phenotype.
DR MedGen; CN293394.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex IV deficiency, nuclear type 11.
AC DI-05933
AR MC4DN11.
DE An autosomal recessive mitochondrial disorder with onset in childhood
DE or adolescence. MC4DN11 is characterized by walking difficulties,
DE cerebellar ataxia, dystonia, choreoathetotic movements and dysarthria.
DE Additional features may include sensory axonal neuropathy, cerebellar
DE atrophy, and mild speech delay. Cognitive function is normal. Serum
DE lactate levels are increased. Patient tissues show decreased levels
DE and activity of mitochondrial respiratory complex IV.
DR MIM; 619054; phenotype.
DR MedGen; CN293395.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex IV deficiency, nuclear type 12.
AC DI-05934
AR MC4DN12.
DE An autosomal recessive mitochondrial disorder with onset in early
DE infancy. MC4DN12 features include poor overall growth, metabolic
DE acidosis, profoundly delayed psychomotor development, seizures,
DE hypotonia, and brain abnormalities. Death may occur in the first years
DE of life. Serum lactate and creatine kinase levels are increased.
DE Patient tissues show decreased levels and activity of mitochondrial
DE respiratory complex IV.
DR MIM; 619055; phenotype.
DR MedGen; CN293396.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex IV deficiency, nuclear type 13.
AC DI-04507
AR MC4DN13.
DE An autosomal recessive, infantile disorder with a fatal course in the
DE first weeks of life, characterized by hypertrophic cardiomyopathy,
DE left ventricular non-compaction, lactic acidosis, metabolic hypotonia,
DE and mitochondrial complex IV deficiency.
SY Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4.
SY CEMCOX4.
DR MIM; 616501; phenotype.
DR MedGen; CN231742.
DR MeSH; D002312.
DR MeSH; D017237.
DR MeSH; D030401.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex IV deficiency, nuclear type 14.
AC DI-05935
AR MC4DN14.
DE An autosomal recessive mitochondrial disorder with onset in early
DE childhood. MC4DN14 is characterized by developmental delay, cognitive
DE impairment, motor delay, abnormal gait, sensorimotor demyelinating
DE polyneuropathy, exercise intolerance, obesity, and short stature.
DE Serum lactate levels are marginally increased. Patient tissues show
DE decreased levels and activity of mitochondrial respiratory complex IV.
DR MIM; 619058; phenotype.
DR MedGen; CN293397.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex IV deficiency, nuclear type 15.
AC DI-05936
AR MC4DN15.
DE An autosomal recessive mitochondrial disorder with onset in infancy.
DE MC4DN15 is characterized by global developmental delay, poor feeding,
DE metabolic acidosis, short stature, microcephaly, proximal muscle
DE weakness, and distal spasticity. Additional manifestations include
DE scoliosis, primary pulmonary hypertension, refractory seizures, and
DE inability to walk. Serum and CSF lactate levels are increased. Patient
DE tissues show decreased levels and activity of mitochondrial
DE respiratory complex IV.
DR MIM; 619059; phenotype.
DR MedGen; CN293384.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex IV deficiency, nuclear type 16.
AC DI-05937
AR MC4DN16.
DE An autosomal recessive mitochondrial disorder with onset in infancy
DE and variable manifestations. MC4DN16 features include feeding
DE difficulties, poor overall growth, short stature, microcephaly,
DE developmental regression, severe hypotonia, and seizures. Cerebral and
DE cerebellar atrophy, and abnormal lesions in the basal ganglia can be
DE observed on brain imaging. Patient tissues show decreased levels and
DE activity of mitochondrial respiratory complex IV.
DR MIM; 619060; phenotype.
DR MedGen; CN293385.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex IV deficiency, nuclear type 17.
AC DI-05938
AR MC4DN17.
DE An autosomal recessive mitochondrial disorder with highly variable
DE clinical manifestations and severity. Clinical features vary from
DE acute neurometabolic decompensation in late infancy to subtle
DE neurological signs presenting in adolescence. Encephalopathic episodes
DE are characterized by acute loss of developmental milestones including
DE ability to walk or sit, loss of speech, episodes with somnolence and
DE seizure, and pyramidal signs rapidly evolving into spastic
DE tetraparesis. The clinical course subsequently tends to stabilize and
DE in several subjects marked recovery of neurological milestones is
DE observed over time. Brain imaging shows a cavitating leukodystrophy,
DE predominantly involving the posterior cerebral white matter and the
DE corpus callosum in the acute stage, after which the abnormalities
DE partially improve and then stabilize. Patient tissues show variably
DE decreased levels and activity of mitochondrial respiratory complex IV.
DR MIM; 619061; phenotype.
DR MedGen; CN293386.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex IV deficiency, nuclear type 18.
AC DI-05939
AR MC4DN18.
DE An autosomal recessive, muscle-specific, mitochondrial disorder with
DE onset in infancy. MC4DN18 is characterized by hypotonia, limb and
DE facial muscle weakness, and high arched palate. Some patients have
DE respiratory insufficiency at birth and cardiomyopathy. Patient
DE skeletal muscle shows decreased levels and activity of mitochondrial
DE respiratory complex IV.
DR MIM; 619062; phenotype.
DR MedGen; CN293387.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex IV deficiency, nuclear type 19.
AC DI-05940
AR MC4DN19.
DE An autosomal recessive mitochondrial disorder with onset in infancy or
DE early childhood. MC4DN19 is characterized by global developmental
DE delay, impaired intellectual development, developmental regression,
DE loss of acquired motor and language skills, and motor dysfunction.
DE Patient tissues show decreased levels and activity of mitochondrial
DE respiratory complex IV.
DR MIM; 619063; phenotype.
DR MedGen; CN293388.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex IV deficiency, nuclear type 2.
AC DI-01608
AR MC4DN2.
DE An autosomal recessive, severe mitochondrial disorder characterized by
DE hypotonia, global developmental delay, hypertrophic cardiomyopathy,
DE lactic acidosis, gliosis, and neuronal loss in basal ganglia,
DE brainstem and spinal cord. Serum lactate is increased, and laboratory
DE studies show decreased mitochondrial complex IV protein and activity
DE levels in various tissues, including heart and skeletal muscle. Most
DE patients die in infancy of cardiorespiratory failure.
SY Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1.
SY CEMCOX1.
SY Cytochrome c oxidase deficiency with fatal infantile cardioencephalomyopathy.
DR MIM; 604377; phenotype.
DR MedGen; C1858424.
DR MeSH; D002312.
DR MeSH; D017237.
DR MeSH; D030401.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex IV deficiency, nuclear type 20.
AC DI-05941
AR MC4DN20.
DE An autosomal recessive mitochondrial disorder with onset in early
DE infancy. MC4DN20 is characterized by pulmonary arterial hypertension,
DE poor feeding, failure to thrive, hypotonia, delayed development,
DE increased serum lactate and metabolic acidosis. Death in infancy
DE occurs due to cardiorespiratory failure. Patient tissues show variably
DE decreased levels and activity of mitochondrial respiratory complex IV.
DR MIM; 619064; phenotype.
DR MedGen; CN293389.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex IV deficiency, nuclear type 21.
AC DI-05942
AR MC4DN21.
DE An autosomal recessive mitochondrial disorder with onset in infancy.
DE MC4DN21 is characterized by congenital lactic acidosis,
DE encephalopathy, global developmental delay, delayed speech, motor
DE dysfunction, dystonia, and spasticity. Ataxia, peripheral neuropathy,
DE and seizures may also occur. Patient tissues show variably decreased
DE levels and activity of mitochondrial respiratory complex IV.
DR MIM; 619065; phenotype.
DR MedGen; CN293398.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex IV deficiency, nuclear type 22.
AC DI-06121
AR MC4DN22.
DE An autosomal recessive mitochondrial disorder characterized by
DE hypertrophic cardiomyopathy, encephalopathy, fatal lactic acidosis,
DE and isolated complex IV deficiency.
DR MIM; 619355; phenotype.
DR MedGen; CN296896.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex IV deficiency, nuclear type 3.
AC DI-05928
AR MC4DN3.
DE An autosomal recessive mitochondrial disorder characterized by
DE cytochrome c oxidase deficiency. Clinical features include muscle
DE weakness, hypotonia, ataxia, ptosis, metabolic acidosis, poor feeding,
DE delayed motor development, anemia, sensorineural hearing loss, and
DE cardiomyopathy.
DR MIM; 619046; phenotype.
DR MedGen; CN293390.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex IV deficiency, nuclear type 4.
AC DI-05929
AR MC4DN4.
DE An autosomal recessive mitochondrial disorder characterized by
DE hypotonia, encephalopathy, metabolic acidosis, poor feeding,
DE hepatomegaly, and hypertrophic cardiomyopathy in some patients. Death
DE occurs in infancy. Patient tissues show decreased levels and activity
DE of mitochondrial respiratory complex IV.
DR MIM; 619048; phenotype.
DR MedGen; CN293391.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex IV deficiency, nuclear type 5.
AC DI-01887
AR MC4DN5.
DE An autosomal recessive, severe mitochondrial disease with
DE multisystemic manifestations and early onset. Clinical features
DE include delayed psychomotor development, impaired intellectual
DE development with speech delay, mild dysmorphic facial features,
DE hypotonia, ataxia, and seizures. Brain imaging shows bilaterally
DE symmetrical necrotic lesions in subcortical brain regions. Mortality
DE is high, due to episodes of severe metabolic acidosis and coma.
SY COX deficiency, French Canadian type.
SY COX deficiency, Saguenay-Lac-Saint-Jean type.
SY Cytochrome c oxidase deficiency, French Canadian type.
SY Leigh syndrome, French-Canadian type.
SY Leigh syndrome, Saguenay-Lac-Saint-Jean type.
SY LSFC.
DR MIM; 220111; phenotype.
DR MedGen; C1857355.
DR MeSH; D030401.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex IV deficiency, nuclear type 6.
AC DI-03707
AR MC4DN6.
DE An autosomal recessive multisystem disorder with variable
DE manifestations. Some patients present in the neonatal period with
DE encephalomyopathic features, whereas others present later in the first
DE year of life with developmental regression. Clinical features include
DE microcephaly, encephalopathy, hypertrophic cardiomyopathy, persistent
DE lactic acidosis, respiratory distress, hypotonia and seizures. Serum
DE lactate is increased, and laboratory studies show decreased
DE mitochondrial complex IV protein and activity levels.
SY Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2.
SY CEMCOX2.
DR MIM; 615119; phenotype.
DR MedGen; C3554534.
DR MedGen; CN166800.
DR MeSH; D002312.
DR MeSH; D017237.
DR MeSH; D030401.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex IV deficiency, nuclear type 7.
AC DI-05930
AR MC4DN7.
DE An autosomal recessive mitochondrial disorder characterized by
DE encephalomyopathy resulting in variable clinical manifestations.
DE Features include muscle weakness, gait disturbances,
DE neurodegeneration, cognitive decline, metabolic acidosis, feeding
DE difficulties, poor overall growth, cortical visual impairment, and
DE hypertrophic cardiomyopathy. Serum lactate levels are increased.
DE Patient tissues show decreased levels and activity of mitochondrial
DE respiratory complex IV.
DR MIM; 619051; phenotype.
DR MedGen; CN293392.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex IV deficiency, nuclear type 8.
AC DI-05931
AR MC4DN8.
DE An autosomal recessive mitochondrial disorder characterized by slowly
DE progressive cognitive dysfunction, dystonia or visual impairment that
DE appear after an uneventful early childhood. Additional features
DE include gait difficulties, spasticity, dysarthria, hypotonia, and
DE variable intellectual disability. Brain imaging shows white matter
DE abnormalities in the basal ganglia. Serum lactate levels are
DE increased. Patient tissues show decreased levels and activity of
DE mitochondrial respiratory complex IV.
DR MIM; 619052; phenotype.
DR MedGen; CN293393.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex IV deficiency, nuclear type 9.
AC DI-04506
AR MC4DN9.
DE An autosomal recessive, infantile disorder with a fatal course in the
DE first weeks of life, and characterized by hypertrophic cardiomyopathy
DE and mitochondrial complex IV deficiency. Postmortem microscopic
DE investigations show accumulation of lipid droplets in cardiomyocytes
DE and mitochondrial proliferation.
SY Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3.
SY CEMCOX3.
DR MIM; 616500; phenotype.
DR MedGen; CN231741.
DR MeSH; D002312.
DR MeSH; D017237.
DR MeSH; D030401.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex V deficiency, mitochondrial 1.
AC DI-03714
AR MC5DM1.
DE A mitochondrial disorder with heterogeneous clinical manifestations
DE including neuropathy, ataxia, hypertrophic cardiomyopathy.
DE Hypertrophic cardiomyopathy can present with negligible to extreme
DE hypertrophy, minimal to extensive fibrosis and myocyte disarray,
DE absent to severe left ventricular outflow tract obstruction, and
DE distinct septal contours/morphologies with extremely varying clinical
DE course.
SY Adult-onset ataxia and polyneuropathy.
SY Infantile hypertrophic cardiomyopathy.
SY Mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1.
DR MIM; 500015; phenotype.
DR MedGen; C3275684.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex V deficiency, mitochondrial 2.
AC DI-03713
AR MC5DM2.
DE A mitochondrial disorder with heterogeneous clinical manifestations
DE including neuropathy, ataxia, hypertrophic cardiomyopathy.
DE Hypertrophic cardiomyopathy can present with negligible to extreme
DE hypertrophy, minimal to extensive fibrosis and myocyte disarray,
DE absent to severe left ventricular outflow tract obstruction, and
DE distinct septal contours/morphologies with extremely varying clinical
DE course.
SY Apical hypertrophic cardiomyopathy and neuropathy.
SY Infantile hypertrophic cardiomyopathy.
SY Mitochondrial complex V (ATP synthase) deficiency mitochondrial type 2.
DR MIM; 516070; gene+phenotype.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex V deficiency, nuclear type 1.
AC DI-01381
AR MC5DN1.
DE A mitochondrial disorder with heterogeneous clinical manifestations
DE including dysmorphic features, psychomotor retardation, hypotonia,
DE growth retardation, cardiomyopathy, enlarged liver, hypoplastic
DE kidneys and elevated lactate levels in urine, plasma and cerebrospinal
DE fluid.
SY ATPAF2 deficiency.
SY ATPase deficiency.
SY ATP synthase deficiency.
SY Complex 5 mitochondrial respiratory chain deficiency.
SY Complex V mitochondrial respiratory chain deficiency.
SY Mitochondrial complex V (ATP synthase) deficiency, ATPAF2 type.
SY Mitochondrial complex V (ATP synthase) deficiency type 1.
DR MIM; 604273; phenotype.
DR MedGen; C2700431.
DR MedGen; C2751773.
DR MedGen; C3276276.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex V deficiency, nuclear type 2.
AC DI-03147
AR MC5DN2.
DE A mitochondrial disorder with heterogeneous clinical manifestations
DE including dysmorphic features, psychomotor retardation, hypotonia,
DE growth retardation, cardiomyopathy, enlarged liver, hypoplastic
DE kidneys and elevated lactate levels in urine, plasma and cerebrospinal
DE fluid.
SY Mitochondrial complex V (ATP synthase) deficiency TMEM70 type.
SY Mitochondrial complex V (ATP synthase) deficiency type 2.
SY Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency.
SY Mitochondrial neonatal encephalocardiomyopathy due to ATP synthase deficiency.
DR MIM; 614052; phenotype.
DR MedGen; C3279699.
DR MedGen; CN077715.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex V deficiency, nuclear type 3.
AC DI-03148
AR MC5DN3.
DE A mitochondrial disorder with heterogeneous clinical manifestations
DE including dysmorphic features, psychomotor retardation, hypotonia,
DE growth retardation, cardiomyopathy, enlarged liver, hypoplastic
DE kidneys and elevated lactate levels in urine, plasma and cerebrospinal
DE fluid.
SY Mitochondrial complex V (ATP synthase) deficiency ATP5E type.
SY Mitochondrial complex V (ATP synthase) deficiency type 3.
DR MIM; 614053; phenotype.
DR MedGen; C3279708.
DR MedGen; CN077654.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex V deficiency, nuclear type 4.
AC DI-03740
AR MC5DN4.
DE A mitochondrial disorder with heterogeneous clinical manifestations
DE including dysmorphic features, psychomotor retardation, hypotonia,
DE growth retardation, cardiomyopathy, enlarged liver, hypoplastic
DE kidneys and elevated lactate levels in urine, plasma and cerebrospinal
DE fluid.
SY Mitochondrial complex V (ATP synthase) deficiency ATP5A1 type.
SY Mitochondrial complex V (ATP synthase) deficiency type 4.
DR MIM; 615228; phenotype.
DR MedGen; C3808899.
DR MedGen; CN169669.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex V deficiency, nuclear type 5.
AC DI-05335
AR MC5DN5.
DE A mitochondrial disorder characterized by childhood onset of episodic
DE metabolic decompensation featuring lactic acidosis and hyperammonemia
DE accompanied by ketoacidosis or hypoglycemia. Chronic manifestations
DE include developmental delay, easy fatiguability, and 3-
DE methylglutaconic aciduria. The transmission pattern of MC5DN5 is
DE consistent with autosomal recessive inheritance.
SY Mitochondrial complex V (ATP synthase) deficiency, ATP5F1D type.
DR MIM; 618120; phenotype.
DR MedGen; CN253835.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial complex V deficiency, nuclear type 6.
AC DI-05711
AR MC5DN6.
DE An autosomal recessive mitochondrial disorder characterized by gross
DE motor developmental delay manifesting in the first years of life, and
DE subsequent episodic developmental regression. The episodes are
DE associated with metabolic stress, including fever, illness, and
DE general anesthesia. Patients develop gait difficulties or loss of
DE ambulation, as well as other variable abnormalities, including
DE abnormal movements, hemiplegia, and persistent lethargy. Brain imaging
DE shows degenerative features in the basal ganglia and brainstem
DE consistent with a diagnosis of Leigh syndrome.
SY Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6.
DR MIM; 618683; phenotype.
DR MedGen; CN262927.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial DNA depletion syndrome 1, MNGIE type.
AC DI-01984
AR MTDPS1.
DE A multisystem disease associated with mitochondrial dysfunction. It is
DE clinically characterized by onset between the second and fifth decades
DE of life, ptosis, progressive external ophthalmoplegia,
DE gastrointestinal dysmotility (often pseudoobstruction), diffuse
DE leukoencephalopathy, cachexia, peripheral neuropathy, and myopathy.
SY Mitochondrial neurogastrointestinal encephalomyopathy.
SY Mitochondrial neurogastrointestinal encephalopathy syndrome TYMP-related.
SY Myoneurogastrointestinal encephalomyopathy.
SY POLIP syndrome.
SY Polyneuropathy ophthalmoplegia leukoencephalopathy and intestinal pseudoobstruction.
DR MIM; 603041; phenotype.
DR MedGen; C0872218.
DR MeSH; D017237.
KW KW-0622:Neuropathy.
KW KW-0935:Progressive external ophthalmoplegia.
//
ID Mitochondrial DNA depletion syndrome 10.
AC DI-03390
AR MTDPS10.
DE An autosomal recessive mitochondrial disorder characterized by
DE congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy,
DE exercise intolerance, and lactic acidosis. Mental development is
DE normal, but affected individuals may die early from cardiomyopathy.
SY Cardiomyopathy and cataract.
SY Mitochondrial DNA depletion syndrome 10 (cardiomyopathic type).
SY Sengers syndrome.
DR MIM; 212350; phenotype.
DR MedGen; C1859317.
DR MeSH; D002386.
DR MeSH; D009202.
DR MeSH; D028361.
KW KW-0122:Cardiomyopathy.
KW KW-0898:Cataract.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial DNA depletion syndrome 11.
AC DI-03645
AR MTDPS11.
DE An autosomal recessive mitochondrial disorder characterized by onset
DE in childhood or adulthood of progressive external ophthalmoplegia,
DE muscle weakness and atrophy, exercise intolerance, and respiratory
DE insufficiency due to muscle weakness. More variable features include
DE spinal deformity, emaciation, and cardiac abnormalities. Skeletal
DE muscle biopsies show deletion and depletion of mitochondrial DNA
DE (mtDNA) with variable defects in respiratory chain enzyme activities.
DR MIM; 615084; phenotype.
DR MedGen; C3554462.
DR MedGen; CN165700.
DR MeSH; D017240.
KW KW-0935:Progressive external ophthalmoplegia.
//
ID Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type.
AC DI-04880
AR MTDPS12A.
DE An autosomal dominant mitochondrial disorder characterized by severe
DE hypotonia due to mitochondrial dysfunction apparent at birth. Affected
DE infants have respiratory insufficiency requiring mechanical
DE ventilation and have poor or no motor development. Many die in
DE infancy, and those that survive have profound hypotonia with
DE significant muscle weakness and inability to walk independently. Some
DE patients develop hypertrophic cardiomyopathy. Muscle samples show
DE mtDNA depletion and severe combined mitochondrial respiratory chain
DE deficiencies.
SY Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type, autosomal dominant.
SY Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) autosomal dominant.
DR MIM; 617184; phenotype.
DR MedGen; CN239059.
DR MeSH; D017240.
KW KW-0122:Cardiomyopathy.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type.
AC DI-03934
AR MTDPS12B.
DE An autosomal recessive mitochondrial disorder characterized by
DE childhood onset of slowly progressive hypertrophic cardiomyopathy and
DE generalized skeletal myopathy resulting in exercise intolerance and,
DE in some patients, muscle weakness and atrophy. Skeletal muscle biopsy
DE shows ragged red fibers, mtDNA depletion, and accumulation of abnormal
DE mitochondria.
SY Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type, autosomal recessive.
SY Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive.
DR MIM; 615418; phenotype.
DR MedGen; C3809443.
DR MedGen; CN180172.
DR MeSH; D017240.
KW KW-0122:Cardiomyopathy.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial DNA depletion syndrome 13.
AC DI-03915
AR MTDPS13.
DE An autosomal recessive disorder characterized by early infantile onset
DE of encephalopathy, hypotonia, lactic acidosis, and severe global
DE developmental delay. Cells derived from patient tissues show defects
DE in mitochondrial oxidative phosphorylation and decreased mtDNA
DE content.
SY Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type).
DR MIM; 615471; phenotype.
DR MedGen; C3809592.
DR MedGen; CN180190.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial DNA depletion syndrome 14, cardioencephalomyopathic type.
AC DI-04691
AR MTDPS14.
DE An autosomal recessive mitochondrial disorder characterized by lethal
DE infantile encephalopathy, hypertrophic cardiomyopathy and optic
DE atrophy. Skeletal muscle biopsies show significant mtDNA depletion and
DE abnormal mitochondria.
SY Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type).
SY Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type).
DR MIM; 616896; phenotype.
DR MedGen; CN236288.
DR MeSH; D017240.
KW KW-0122:Cardiomyopathy.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial DNA depletion syndrome 15, hepatocerebral type.
AC DI-04864
AR MTDPS15.
DE An autosomal recessive mitochondrial disorder characterized by severe
DE intrauterine growth restriction, neonatal-onset hypoglycemia and liver
DE dysfunction, mitochondrial DNA depletion in liver and skeletal muscle,
DE and abnormal mitochondrial morphology observed in skeletal muscle.
DE Hepatic pathology includes cirrhosis, steatosis and cholestasis.
DE Progression to liver failure and death is rapid with no evidence of
DE neurological impairment or other organ involvement.
SY Mitochondrial DNA depletion syndrome 15 (hepatocerebral type).
DR MIM; 617156; phenotype.
DR MedGen; CN238696.
DR MeSH; D017240.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial DNA depletion syndrome 16, hepatic type.
AC DI-05631
AR MTDPS16.
DE An autosomal recessive disorder characterized by poor feeding,
DE difficulty breathing, abdominal distention, an abnormal carnitine
DE profile, metabolic acidosis and hepatic failure in the neonatal
DE period. Severe mtDNA depletion is observed in liver and muscle
DE biopsies.
DR MIM; 618528; phenotype.
DR MedGen; CN262181.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial DNA depletion syndrome 16B, neuroophthalmic type.
AC DI-06164
AR MTDPS16B.
DE An autosomal recessive disorder characterized by childhood onset of
DE progressive neuroophthalmic manifestations with optic atrophy, mixed
DE polyneuropathy, spinal and cerebellar ataxia, and generalized chorea
DE associated with mtDNA depletion.
DR MIM; 619425; phenotype.
DR MedGen; CN299804.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial DNA depletion syndrome 17.
AC DI-05654
AR MTDPS17.
DE An autosomal recessive mitochondrial disorder characterized by
DE childhood onset of rapidly progressive encephalopathy, stroke-like
DE episodes, lactic acidosis, hypocitrullinemia, multiple defects of
DE oxidative phosphorylation, mitochondrial complex I and IV deficiency,
DE and reduced mtDNA copy number.
DR MIM; 618567; phenotype.
DR MedGen; CN262227.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial DNA depletion syndrome 18.
AC DI-05790
AR MTDPS18.
DE An autosomal recessive mitochondrial disorder characterized by early-
DE onset progressive weakness and atrophy of the distal limb muscles,
DE loss of ambulation, and atrophy of the intrinsic hand muscles with
DE clawed hands. Additional features include scoliosis, hypo- or
DE hyperreflexia, and decreased pulmonary vital capacity. Examination of
DE skeletal muscle shows mitochondrial respiratory chain deficiencies
DE involving complexes I and IV, associated with mtDNA depletion.
DR MIM; 618811; phenotype.
DR MedGen; CN263372.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial DNA depletion syndrome 19.
AC DI-05891
AR MTDPS19.
DE An autosomal recessive mitochondrial disorder characterized by
DE progressive and severe epileptic encephalopathy, hypotonia, poor
DE spontaneous movements evolving to spastic quadriparesis and
DE dyskinesias, and respiratory complex I deficiency and mitochondrial
DE DNA depletion in skeletal muscle.
DR MIM; 618972; phenotype.
DR MedGen; CN283308.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial DNA depletion syndrome 2.
AC DI-02018
AR MTDPS2.
DE A disorder due to mitochondrial dysfunction characterized by childhood
DE onset of muscle weakness associated with depletion of mtDNA in
DE skeletal muscle. There is wide clinical variability; some patients
DE have onset in infancy and show a rapidly progressive course with early
DE death due to respiratory failure, whereas others have later onset of a
DE slowly progressive myopathy.
SY Mitochondrial DNA depletion myopathy TK2-related.
SY Mitochondrial DNA depletion syndrome 2 myopathic type.
SY Myopathic mitochondrial DNA depletion syndrome.
DR MIM; 609560; phenotype.
DR MedGen; C3149750.
DR MeSH; D017240.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial DNA depletion syndrome 20, MNGIE type.
AC DI-06362
AR MTDPS20.
DE An autosomal recessive mitochondrial disorder characterized by severe
DE gut dysmotility, muscle weakness and atrophy, neurological
DE abnormalities including epilepsy, migraine, stroke-like episodes,
DE learning difficulties or cognitive decline, and neurogenic bladder.
DE Brain imaging usually shows diffuse leukoencephalopathy and may show
DE cerebellar atrophy. Disease onset can range from infancy to the
DE teenage years.
SY Mitochondrial neurogastrointestinal encephalomyopathy syndrome, LIG3-related.
DR MIM; 619780; phenotype.
DR MedGen; CN307037.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial DNA depletion syndrome 3.
AC DI-01709
AR MTDPS3.
DE A disorder due to mitochondrial dysfunction characterized by onset in
DE infancy of progressive liver failure, hypoglycemia, increased lactate
DE in body fluids, and neurologic abnormalities including hypotonia,
DE encephalopathy, peripheral neuropathy. Affected tissues show both
DE decreased activity of the mtDNA-encoded respiratory chain complexes
DE and mtDNA depletion.
SY Hepatocerebral mitochondrial DNA deletions syndrome autosomal recessive.
SY Mitochondrial DNA depletion syndrome 3 hepatocerebral type.
DR MIM; 251880; phenotype.
DR MedGen; C3151513.
DR MeSH; D017237.
KW KW-0622:Neuropathy.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial DNA depletion syndrome 4A.
AC DI-00079
AR MTDPS4A.
DE An autosomal recessive hepatocerebral syndrome due to mitochondrial
DE dysfunction. The typical course of the disease includes severe
DE developmental delay, intractable seizures, liver failure, and death in
DE childhood. Refractory seizures, cortical blindness, progressive liver
DE dysfunction, and acute liver failure after exposure to valproic acid
DE are considered diagnostic features. The neuropathological hallmarks
DE are neuronal loss, spongiform degeneration, and astrocytosis of the
DE visual cortex. Liver biopsy results show steatosis, often progressing
DE to cirrhosis.
SY AHS.
SY Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis.
SY Alpers-Huttenlocher syndrome.
SY Alpers progressive infantile poliodystrophy.
SY Alpers syndrome.
SY Mitochondrial DNA depletion syndrome 4A Alpers type.
SY Neuronal degeneration of childhood with liver disease progressive.
SY PNDC.
DR MIM; 203700; phenotype.
DR MedGen; C0205710.
DR MeSH; D002549.
KW KW-0523:Neurodegeneration.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial DNA depletion syndrome 4B.
AC DI-02989
AR MTDPS4B.
DE An autosomal recessive progressive multisystem disorder due to
DE mitochondrial dysfunction. It is clinically characterized by chronic
DE gastrointestinal dysmotility and pseudo-obstruction, cachexia,
DE progressive external ophthalmoplegia, axonal sensory ataxic
DE neuropathy, and muscle weakness.
SY Mitochondrial DNA depletion syndrome 4B MNGIE type.
SY Mitochondrial neurogastrointestinal encephalopathy syndrome POLG-related.
SY MNGIE POLG-related.
DR MIM; 613662; phenotype.
DR MedGen; C3150914.
DR MeSH; D017237.
KW KW-0622:Neuropathy.
KW KW-0935:Progressive external ophthalmoplegia.
//
ID Mitochondrial DNA depletion syndrome 5.
AC DI-01523
AR MTDPS5.
DE A disorder due to mitochondrial dysfunction. It is characterized by
DE infantile onset of hypotonia, neurologic deterioration, a
DE hyperkinetic-dystonic movement disorder, external ophthalmoplegia,
DE deafness, variable renal tubular dysfunction, and mild methylmalonic
DE aciduria in some patients.
SY Encephalomyopathic mitochondrial DNA depletion syndrome with or without methylmalonic aciduria.
SY Mitochondrial DNA depletion syndrome 5 encephalomyopathic with or without methylmalonic aciduria.
SY Mitochondrial DNA depletion syndrome encephalomyopathic form with or without methylmalonic aciduria autosomal recessive SUCLA2-related.
DR MIM; 612073; phenotype.
DR MedGen; C2749864.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial DNA depletion syndrome 6.
AC DI-03020
AR MTDPS6.
DE A disease due to mitochondrial dysfunction. It is characterized by
DE infantile onset of progressive liver failure, often leading to death
DE in the first year of life, peripheral neuropathy, corneal scarring,
DE acral ulceration and osteomyelitis leading to autoamputation, cerebral
DE leukoencephalopathy, failure to thrive, and recurrent metabolic
DE acidosis with intercurrent infections.
SY Mitochondrial DNA depletion 6 hepatocerebral type.
SY Navajo familial neurogenic arthropathy.
SY Navajo neurohepatopathy.
SY Navajo neuropathy.
SY NN.
SY NNH.
DR MIM; 256810; phenotype.
DR MedGen; C1850406.
DR MedGen; C1850407.
DR MeSH; D017237.
KW KW-0622:Neuropathy.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial DNA depletion syndrome 7.
AC DI-01065
AR MTDPS7.
DE A severe disease associated with mitochondrial dysfunction. Some
DE patients are affected by progressive atrophy of the cerebellum, brain
DE stem, the spinal cord, and sensory axonal neuropathy. Clinical
DE features include hypotonia, athetosis, ataxia, ophthalmoplegia,
DE sensorineural hearing deficit, sensory axonal neuropathy, epileptic
DE encephalopathy and female hypogonadism. In some individuals liver
DE dysfunction and multi-organ failure is present.
SY IOSCA.
SY Mitochondrial DNA depletion syndrome 7 hepatocerebral type.
SY Ohaha syndrome.
SY Ophthalmoplegia hypotonia ataxia hypoacusis and athetosis.
SY Pure spinocerebellar ataxia Japanese type.
SY SCA4 pure Japanese type.
SY SCA8.
SY Spinocerebellar ataxia 8.
SY Spinocerebellar ataxia infantile-onset.
SY Spinocerebellar ataxia infantile with sensory neuropathy.
DR MIM; 271245; phenotype.
DR MedGen; C1849096.
DR MeSH; D020754.
KW KW-0523:Neurodegeneration.
KW KW-0622:Neuropathy.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial DNA depletion syndrome 8A.
AC DI-01522
AR MTDPS8A.
DE A disorder due to mitochondrial dysfunction characterized by various
DE combinations of neonatal hypotonia, neurological deterioration,
DE respiratory distress, lactic acidosis, and renal tubulopathy.
SY Encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy.
SY Mitochondrial DNA depletion syndrome 8A encephalomyopathic type with renal tubulopathy.
SY Mitochondrial DNA depletion syndrome encephalomyopathic with renal tubulopathy autosomal recessive.
DR MIM; 612075; phenotype.
DR MedGen; C2749861.
DR MedGen; CN187502.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial DNA depletion syndrome 8B.
AC DI-02988
AR MTDPS8B.
DE A disease due to mitochondrial dysfunction and characterized by
DE ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia,
DE peripheral neuropathy.
SY Mitochondrial DNA depletion syndrome 8B MNGIE type.
SY Mitochondrial neurogastrointestinal encephalopathy syndrome RRM2B-related.
SY MNGIE RRM2B-related.
DR MIM; 612075; phenotype.
DR MedGen; C2749862.
DR MedGen; C3150172.
DR MeSH; D017237.
KW KW-0622:Neuropathy.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial DNA depletion syndrome 9.
AC DI-01609
AR MTDPS9.
DE A severe disorder due to mitochondrial dysfunction. It is
DE characterized by infantile onset of hypotonia, lactic acidosis, severe
DE psychomotor retardation, progressive neurologic deterioration, and
DE excretion of methylmalonic acid.
SY Fatal infantile lactic acidosis.
SY Mitochondrial DNA depletion syndrome 9 encephalomyopathic type with methylmalonic aciduria.
DR MIM; 245400; phenotype.
DR MedGen; C3151476.
DR MeSH; D000140.
DR MeSH; D017237.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome.
AC DI-01983
AR MELAS.
DE Genetically heterogeneous disorder, characterized by episodic
DE vomiting, seizures, and recurrent cerebral insults resembling strokes
DE and causing hemiparesis, hemianopsia, or cortical blindness.
DR MIM; 540000; phenotype.
DR MedGen; C0162671.
KW KW-0867:MELAS syndrome.
//
ID Mitochondrial infantile bilateral striatal necrosis.
AC DI-01818
AR MIBSN.
DE Bilateral striatal necrosis is a neurological disorder resembling
DE Leigh syndrome.
DR MIM; 500003; phenotype.
DR MedGen; C1839022.
//
ID Mitochondrial myopathy with lactic acidosis.
AC DI-04438
AR MMLA.
DE An autosomal recessive disorder characterized by progressive muscle
DE weakness, hypotonia, seizures, poor weight gain, lactic acidosis, and
DE elevated serum pyruvate concentration. Some patients manifest growth
DE failure and moderate neural deafness.
DR MIM; 251950; phenotype.
DR MedGen; C1855033.
DR MeSH; D017240.
//
ID Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy.
AC DI-05521
AR MEOAL.
DE An autosomal recessive neuromuscular disorder characterized by
DE childhood onset of recurrent episodes of proximal weakness and myalgia
DE often precipitated by exercise, infections or low temperature.
DE Additional features are optic atrophy, axonal polyneuropathy, and
DE reversible or partially reversible leukoencephalopathy.
DR MIM; 251900; phenotype.
DR MedGen; C0162670.
DR MeSH; D017240.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial phosphate carrier deficiency.
AC DI-01985
AR MPCD.
DE An autosomal recessive disorder of oxidative phosphorylation. Patients
DE have lactic acidosis, hypertrophic cardiomyopathy and muscular
DE hypotonia and die within the first year of life.
SY Neonatal hypertrophic cardiomyopathy, respiratory insufficiency, hypotonia, and lactic acidosis.
DR MIM; 610773; phenotype.
DR MedGen; C1835845.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Mitochondrial phosphoenolpyruvate carboxykinase deficiency.
AC DI-01986
AR M-PEPCKD.
DE Metabolic disorder resulting from impaired gluconeogenesis. It is a
DE rare disease with less than 10 cases reported in the literature.
DE Clinical characteristics include hypotonia, hepatomegaly, failure to
DE thrive, lactic acidosis and hypoglycemia. Autopsy reveals fatty
DE infiltration of both the liver and kidneys. The disorder is
DE transmitted as an autosomal recessive trait.
DR MIM; 261650; phenotype.
DR MedGen; C1849821.
//
ID Mitochondrial pyruvate carrier deficiency.
AC DI-03497
AR MPYCD.
DE An autosomal recessive metabolic disorder characterized by severely
DE delayed psychomotor development, mild dysmorphic features,
DE hepatomegaly, marked metabolic acidosis, hyperlactacidemia with normal
DE lactate/pyruvate, and encephalopathy. Some patients have epilepsy and
DE peripheral neuropathy.
DR MIM; 614741; phenotype.
DR MedGen; C3553607.
DR MedGen; CN130587.
DR MeSH; D028361.
//
ID Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency.
AC DI-04359
AR ECHS1D.
DE A severe, autosomal recessive inborn error affecting valine
DE metabolism. Disease features include brain lesions in the basal
DE ganglia, neurodegeneration, delayed psychomotor development,
DE hypotonia, spasticity, and increased lactic acid in serum and cerebral
DE serum fluid.
DR MIM; 616277; phenotype.
DR MedGen; CN228784.
DR MeSH; D000592.
KW KW-0523:Neurodegeneration.
//
ID Mitochondrial trifunctional protein deficiency.
AC DI-02388
AR MTPD.
DE A disease biochemically characterized by loss of all enzyme activities
DE of the mitochondrial trifunctional protein complex. Variable clinical
DE manifestations include hypoglycemia, cardiomyopathy, delayed
DE psychomotor development, sensorimotor axonopathy, generalized
DE weakness, hepatic dysfunction, respiratory failure. Sudden infant
DE death may occur. Most patients die from heart failure.
SY Trifunctional protein deficiency.
SY Trifunctional protein deficiency with myopathy and neuropathy.
DR MIM; 609015; phenotype.
DR MedGen; C0342786.
DR MedGen; C1969443.
DR MeSH; D008052.
DR MeSH; D017240.
//
ID Mitral valve prolapse 2.
AC DI-04583
AR MVP2.
DE A form of mitral valve prolapse, a valvular heart disease
DE characterized by abnormally elongated and thickened mitral valve
DE leaflets, that typically show myxomatous degeneration with increased
DE leaflet compliance. It is associated with mitral regurgitation.
DE Myxomatous mitral valves have an abnormal layered architecture
DE characterized by loose collagen in fibrosa, expanded spongiosa
DE strongly positive for proteoglycans, and disrupted elastin in
DE atrialis. In classic mitral valve prolapse, leaflets are at least 5 mm
DE thick, whereas in the non-classic form, they are less than 5 mm thick.
DE Severe classic mitral valve prolapse is strongly associated with
DE arrhythmias, endocarditis, heart failure, and need for valve surgery.
DE MVP2 inheritance is autosomal dominant.
SY Mitral valve prolapse, myxomatous 2.
SY MMVP2.
SY Myxomatous mitral valve prolapse 2.
DR MIM; 607829; phenotype.
DR MedGen; C1843003.
DR MeSH; D008945.
//
ID Mitral valve prolapse 3.
AC DI-05973
AR MVP3.
DE An autosomal dominant form of mitral valve prolapse, a valvular heart
DE disease characterized by abnormally elongated and thickened mitral
DE valve leaflets, that typically show myxomatous degeneration with
DE increased leaflet compliance. It is associated with mitral
DE regurgitation. Myxomatous mitral valves have an abnormal layered
DE architecture characterized by loose collagen in fibrosa, expanded
DE spongiosa strongly positive for proteoglycans, and disrupted elastin
DE in atrialis. In classic mitral valve prolapse, leaflets are at least 5
DE mm thick, whereas in the non-classic form, they are less than 5 mm
DE thick. Severe classic mitral valve prolapse is strongly associated
DE with arrhythmias, endocarditis, heart failure, and need for valve
DE surgery.
SY Mitral valve prolapse, myxomatous 3.
SY MMVP3.
SY Myxomatous mitral valve prolapse 3.
DR MIM; 610840; phenotype.
DR MedGen; C1835814.
DR MeSH; D008945.
//
ID Miyoshi muscular dystrophy 1.
AC DI-01987
AR MMD1.
DE A late-onset muscular dystrophy involving the distal lower limb
DE musculature. It is characterized by weakness that initially affects
DE the gastrocnemius muscle during early adulthood.
SY Miyoshi myopathy.
SY Muscular dystrophy distal late-onset autosomal recessive.
DR MIM; 254130; phenotype.
DR MedGen; C1850808.
DR MeSH; D049310.
//
ID Miyoshi muscular dystrophy 3.
AC DI-02704
AR MMD3.
DE A late-onset muscular dystrophy characterized by distal muscle
DE weakness of the lower limbs, calf muscle discomfort and weakness,
DE quadriceps atrophy. Muscle weakness and atrophy may be asymmetric.
SY Miyoshi myopathy 3.
DR MIM; 613319; phenotype.
DR MedGen; C2750076.
DR MeSH; D049310.
//
ID Mohr-Tranebjaerg syndrome.
AC DI-01988
AR MTS.
DE An X-linked recessive disorder characterized by postlingual
DE sensorineural deafness with onset in early childhood, dystonia,
DE spasticity, dysphagia, mental deterioration, paranoia and cortical
DE blindness.
SY DDS.
SY DFN-1.
SY Dystonia-deafness syndrome.
SY Jensen syndrome.
SY Opticoacoustic nerve atrophy with dementia.
SY X-linked progressive deafness type 1.
DR MIM; 304700; phenotype.
DR MedGen; C0796074.
DR MeSH; D008607.
DR MeSH; D054062.
KW KW-0209:Deafness.
KW KW-1023:Dystonia.
//
ID Molybdenum cofactor deficiency, complementation group A.
AC DI-01989
AR MOCODA.
DE An autosomal recessive metabolic disorder leading to the pleiotropic
DE loss of molybdoenzyme activities. It is clinically characterized by
DE onset in infancy of poor feeding, intractable seizures, severe
DE psychomotor retardation, and death in early childhood in most
DE patients.
SY Combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase.
SY Molybdenum cofactor deficiency A.
DR MIM; 252150; phenotype.
DR MedGen; C0268119.
DR MedGen; C1854988.
DR MeSH; D008664.
//
ID Molybdenum cofactor deficiency, complementation group B.
AC DI-01990
AR MOCODB.
DE An autosomal recessive metabolic disorder characterized by neonatal
DE onset of intractable seizures, opisthotonus, and facial dysmorphism
DE associated with hypouricemia and elevated urinary sulfite levels.
DE Affected individuals show severe neurologic damage and often die in
DE early childhood.
SY Molybdenum cofactor deficiency B.
DR MIM; 252160; phenotype.
DR MedGen; C1854989.
DR MeSH; D008664.
//
ID Molybdenum cofactor deficiency, complementation group C.
AC DI-01991
AR MOCODC.
DE A form of molybdenum cofactor deficiency, an autosomal recessive
DE metabolic disorder leading to the pleiotropic loss of molybdoenzyme
DE activities. It is clinically characterized by onset in infancy of poor
DE feeding, intractable seizures, severe psychomotor retardation, and
DE death in early childhood in most patients.
SY Molybdenum cofactor deficiency C.
DR MIM; 615501; phenotype.
DR MedGen; C1854990.
DR MeSH; D008664.
//
ID Monilethrix.
AC DI-01992
AR MNLIX.
DE A disorder clinically characterized by alopecia and follicular
DE papules. Affected hairs have uniform elliptical nodes of normal
DE thickness and intermittent constrictions, internodes at which the hair
DE easily breaks. Usually only the scalp is involved, but in severe
DE forms, the secondary sexual hair, eyebrows, eyelashes, and nails may
DE also be affected.
DR MIM; 158000; phenotype.
DR MedGen; C0546966.
DR MeSH; D056734.
//
ID Monocarboxylate transporter 1 deficiency.
AC DI-04263
AR MCT1D.
DE A metabolic disorder characterized by recurrent ketoacidosis, a
DE pathologic state due to ketone formation exceeding ketone utilization.
DE The clinical consequences of ketoacidosis are vomiting, osmotic
DE diuresis, dehydration, and Kussmaul breathing. The condition may
DE progress to decreased consciousness and, ultimately, death.
DR MIM; 616095; phenotype.
DR MedGen; CN221290.
DR MeSH; D007662.
//
ID Monocarboxylate transporter 8 deficiency.
AC DI-01993
AR MCT8 deficiency.
DE Consists of a severe form of X-linked psychomotor retardation combined
DE with abnormal thyroid hormone (TH) levels. Thyroid hormone deficiency
DE can be caused by defects of hormone synthesis and action, but it has
DE also been linked to a defect in cellular hormone transport. Affected
DE patients are males with abnormal relative concentrations of three
DE circulating iodothyronines, as well as severe neurological
DE abnormalities, including global developmental delay, central
DE hypotonia, spastic quadriplegia, dystonic movements, rotary nystagmus,
DE and impaired gaze and hearing. Heterozygous females had a milder
DE thyroid phenotype and no neurological defects.
SY AHDS.
SY Allan-Herndon-Dudley syndrome.
DR MIM; 300523; phenotype.
DR MedGen; C0795889.
//
ID Mononeuropathy of the median nerve mild.
AC DI-02929
AR MNMN.
DE A disease characterized by median nerve mononeuropathy at the wrist.
DE The clinical presentation ranges from a mild phenotype, consistent
DE with carpal tunnel syndrome, to a severe median nerve mononeuropathy
DE at the wrist associated with evidence of a more widespread axonal
DE polyneuropathy. The latter phenotype is similar to that of patients
DE with hereditary neuropathy with liability to pressure palsies.
SY Carpal tunnel syndrome.
DR MIM; 613353; phenotype.
DR MedGen; C3150596.
DR MeSH; D002349.
//
ID Monosomy 7 myelodysplasia and leukemia syndrome 1.
AC DI-05981
AR M7MLS1.
DE A hematologic disorder characterized by bone marrow dyspoiesis and
DE pancytopenia manifesting in early childhood, associated with monosomy
DE 7 in the bone marrow. Disease severity ranges from transient
DE thrombocytopenia or anemia, or normal peripheral blood counts with
DE transient bone marrow abnormalities or transient monosomy 7, to frank
DE myelodysplastic syndrome or acute myelogenous leukemia. M7MLS1
DE inheritance is autosomal dominant with incomplete penetrance and
DE variable expressivity.
SY Chromosome 7q deletion.
SY Familial mosaic monosomy 7 syndrome.
SY MLSM7.
SY Monosomy of bone marrow.
DR MIM; 252270; phenotype.
DR MedGen; C1854978.
DR MeSH; D009190.
DR MeSH; D010198.
//
ID Monosomy 7 myelodysplasia and leukemia syndrome 2.
AC DI-05982
AR M7MLS2.
DE A hematologic disorder manifesting in early childhood and
DE characterized by bone marrow dyspoiesis, pancytopenia, myelodysplastic
DE syndrome or acute myelogenous leukemia, associated with monosomy 7 in
DE the bone marrow. Disease severity is highly variable. Inheritance is
DE autosomal dominant with incomplete penetrance.
DR MIM; 619041; phenotype.
DR MedGen; CN293581.
DR MeSH; D009190.
DR MeSH; D010198.
//
ID Morbid obesity and spermatogenic failure.
AC DI-04042
AR MOSPGF.
DE An autosomal recessive morbid obesity syndrome characterized by
DE hypertension, fatty liver disease, insulin resistance, and decreased
DE sperm counts. Variable clinical manifestations are early coronary
DE artery disease with myocardial infarction before 45 years of age, type
DE II diabetes mellitus, and intellectual disability. Morbid obese
DE individuals are defined as having a BMI greater than 40.
SY MO1 syndrome.
DR MIM; 615703; phenotype.
DR MedGen; C3810324.
DR MedGen; CN185305.
DR MeSH; D007248.
DR MeSH; D009767.
KW KW-0550:Obesity.
//
ID Mosaic variegated aneuploidy syndrome 1.
AC DI-01994
AR MVA1.
DE A severe developmental disorder characterized by mosaic aneuploidies,
DE predominantly trisomies and monosomies, involving multiple different
DE chromosomes and tissues. Affected individuals typically present with
DE severe intrauterine growth retardation and microcephaly. Eye
DE anomalies, mild dysmorphism, variable developmental delay, and a broad
DE spectrum of additional congenital abnormalities and medical conditions
DE may also occur. The risk of malignancy is high, with rhabdomyosarcoma,
DE Wilms tumor and leukemia reported in several cases.
SY MVA syndrome.
DR MIM; 257300; phenotype.
DR MedGen; C1850343.
DR MeSH; D025063.
//
ID Mosaic variegated aneuploidy syndrome 2.
AC DI-03206
AR MVA2.
DE A severe developmental disorder characterized by mosaic aneuploidies,
DE predominantly trisomies and monosomies, involving multiple different
DE chromosomes and tissues. Affected individuals typically present with
DE severe intrauterine growth retardation and microcephaly. Eye
DE anomalies, mild dysmorphism, variable developmental delay, and a broad
DE spectrum of additional congenital abnormalities and medical conditions
DE may also occur. The risk of malignancy is high, with rhabdomyosarcoma,
DE Wilms tumor and leukemia reported in several cases.
DR MIM; 614114; phenotype.
DR MedGen; C3279843.
DR MeSH; D025063.
//
ID Mosaic variegated aneuploidy syndrome 3.
AC DI-05048
AR MVA3.
DE A form of mosaic variegated aneuploidy syndrome, a severe disorder
DE characterized by mosaic aneuploidies, predominantly trisomies and
DE monosomies, involving multiple different chromosomes and tissues.
DE Affected individuals typically present with severe intrauterine growth
DE retardation and microcephaly. Eye anomalies, mild dysmorphism,
DE variable developmental delay, and a broad spectrum of additional
DE congenital abnormalities and medical conditions may also occur. The
DE risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and
DE leukemia reported in several cases. MVA3 inheritance is autosomal
DE recessive.
DR MIM; 617598; phenotype.
DR MedGen; CN351188.
DR MeSH; D025063.
//
ID Mowat-Wilson syndrome.
AC DI-01749
AR MOWS.
DE A complex developmental disorder characterized by intellectual
DE disability, delayed motor development, epilepsy, microcephaly and a
DE wide spectrum of clinically heterogeneous features suggestive of
DE neurocristopathies at the cephalic, cardiac, and vagal levels.
DE Affected patients show an easily recognizable facial appearance with
DE deep set eyes and hypertelorism, medially divergent, broad eyebrows,
DE prominent columella, pointed chin and uplifted, notched ear lobes.
DE Some patients manifest Hirschsprung disease.
DR MIM; 235730; phenotype.
DR MedGen; C1856113.
DR MeSH; D006627.
DR MeSH; D008607.
DR MeSH; D008831.
KW KW-0367:Hirschsprung disease.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Moyamoya disease 2.
AC DI-03059
AR MYMY2.
DE A progressive cerebral angiopathy characterized by bilateral
DE intracranial carotid artery stenosis and telangiectatic vessels in the
DE region of the basal ganglia. The abnormal vessels resemble a 'puff of
DE smoke' (moyamoya) on cerebral angiogram. Affected individuals can
DE develop transient ischemic attacks and/or cerebral infarction, and
DE rupture of the collateral vessels can cause intracranial hemorrhage.
DE Hemiplegia of sudden onset and epileptic seizures constitute the
DE prevailing presentation in childhood, while subarachnoid bleeding
DE occurs more frequently in adults.
DR MIM; 607151; phenotype.
DR MedGen; C1846689.
DR MeSH; D009072.
//
ID Moyamoya disease 5.
AC DI-03141
AR MYMY5.
DE A progressive cerebral angiopathy characterized by bilateral
DE intracranial carotid artery stenosis and telangiectatic vessels in the
DE region of the basal ganglia. The abnormal vessels resemble a 'puff of
DE smoke' (moyamoya) on cerebral angiogram. Affected individuals can
DE develop transient ischemic attacks and/or cerebral infarction, and
DE rupture of the collateral vessels can cause intracranial hemorrhage.
DE Hemiplegia of sudden onset and epileptic seizures constitute the
DE prevailing presentation in childhood, while subarachnoid bleeding
DE occurs more frequently in adults.
DR MIM; 614042; phenotype.
DR MedGen; C3279690.
DR MeSH; D009072.
//
ID Moyamoya disease 6 with or without achalasia.
AC DI-04074
AR MYMY6.
DE A form of Moyamoya disease, a progressive cerebral angiopathy
DE characterized by bilateral intracranial carotid artery stenosis and
DE telangiectatic vessels in the region of the basal ganglia. The
DE abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral
DE angiogram. Affected individuals can develop transient ischemic attacks
DE and/or cerebral infarction, and rupture of the collateral vessels can
DE cause intracranial hemorrhage. Hemiplegia of sudden onset and
DE epileptic seizures constitute the prevailing presentation in
DE childhood, while subarachnoid bleeding occurs more frequently in
DE adults. MYMY6 is characterized by severe cerebral angiopathy and onset
DE of severe achalasia in infancy or early childhood.
SY Moyamoya 6 with achalasia.
DR MIM; 615750; phenotype.
DR MedGen; C3810403.
DR MeSH; D009072.
//
ID Muckle-Wells syndrome.
AC DI-00783
AR MWS.
DE A hereditary periodic fever syndrome characterized by fever, chronic
DE recurrent urticaria, arthralgias, progressive sensorineural deafness,
DE and reactive renal amyloidosis. The disease may be severe if
DE generalized reactive amyloidosis occurs.
SY UDA syndrome.
SY Urticaria-deafness-amyloidosis syndrome.
DR MIM; 191900; phenotype.
DR MedGen; C0268390.
DR MeSH; D056587.
KW KW-0209:Deafness.
KW KW-1008:Amyloidosis.
//
ID Mucocutaneous ulceration, chronic.
AC DI-05466
AR CMCU.
DE An autosomal dominant, mucocutaneous disease characterized by chronic
DE mucosal lesions, in absence of recurrent infections.
DR MIM; 618287; phenotype.
DR MedGen; CN258147.
DR MeSH; D012883.
//
ID Mucoepithelial dysplasia, hereditary.
AC DI-05948
AR HMD.
DE An autosomal dominant genodermatosis mainly characterized by chronic
DE mucosal lesions associated with keratitis, non-scarring alopecia,
DE keratosis pilaris and perineal intertrigo.
DR MIM; 158310; phenotype.
DR MedGen; C1274795.
DR MeSH; D000505.
DR MeSH; D007642.
DR MeSH; D012868.
//
ID Mucolipidosis 4.
AC DI-01998
AR ML4.
DE An autosomal recessive lysosomal storage disorder characterized by
DE severe psychomotor retardation and ophthalmologic abnormalities,
DE including corneal opacity, retinal degeneration and strabismus.
DE Storage bodies of lipids and water-soluble substances are seen by
DE electron microscopy in almost every cell type of the patients. Most
DE patients are unable to speak or walk independently and reach a maximal
DE developmental level of 1-2 years. All patients have constitutive
DE achlorhydia associated with a secondary elevation of serum gastrin
DE levels.
SY MLIV.
SY Mucolipidosis IV.
SY Mucolipidosis type IV.
SY Sialolipidosis.
DR MIM; 252650; phenotype.
DR MedGen; C0238286.
DR MeSH; D009081.
KW KW-0942:Mucolipidosis.
//
ID Mucolipidosis type II.
AC DI-01995
AR MLII.
DE Fatal, autosomal recessive, lysosomal storage disorder characterized
DE by severe clinical and radiologic features, peculiar fibroblast
DE inclusions, and no excessive mucopolysacchariduria. Congenital
DE dislocation of the hip, thoracic deformities, hernia, and hyperplastic
DE gums are evident soon after birth.
SY ICD.
SY I-cell disease.
SY Inclusion cell disease.
DR MIM; 252500; phenotype.
DR MedGen; C0020725.
DR MedGen; C2673377.
KW KW-0942:Mucolipidosis.
//
ID Mucolipidosis type III complementation group A.
AC DI-01996
AR MLIIIA.
DE Autosomal recessive disease of lysosomal enzyme targeting. Clinically
DE MLIII is characterized by restricted joint mobility, skeletal
DE dysplasia, and short stature. Mildly coarsened facial features and
DE thickening of the skin have been described. Cardiac valvular disease
DE and corneal clouding may also occur. Half of the reported patients
DE show learning disabilities or intellectual disability.
SY Cariant pseudo-Hurler polydystrophy.
DR MIM; 252600; phenotype.
DR MedGen; C0033788.
DR MedGen; C2673375.
KW KW-0942:Mucolipidosis.
//
ID Mucolipidosis type III complementation group C.
AC DI-01997
AR MLIIIC.
DE Autosomal recessive disease of lysosomal hydrolase trafficking. Unlike
DE the related diseases, mucolipidosis II and IIIA, the enzyme affected
DE in mucolipidosis IIIC (GlcNAc-phosphotransferase) retains full
DE transferase activity on synthetic substrates but lacks activity on
DE lysosomal hydrolases. Typical clinical findings include stiffness of
DE the hands and shoulders, claw-hand deformity, scoliosis, short
DE stature, coarse facies, and mild intellectual disability.
DE Radiographically, severe dysostosis multiplex of the hip is
DE characteristic and frequently disabling. The clinical diagnosis can be
DE confirmed by finding elevated serum lysosomal enzyme levels and/or
DE decreased lysosomal enzyme levels in cultured fibroblasts.
SY Variant pseudo-Hurler polydystrophy.
DR MIM; 252605; phenotype.
DR MedGen; C1854896.
KW KW-0942:Mucolipidosis.
//
ID Mucopolysaccharidosis 10.
AC DI-06314
AR MPS10.
DE A form of mucopolysaccharidosis, a group of lysosomal storage diseases
DE characterized by defective degradation of glycosaminoglycans,
DE resulting in their excessive accumulation and secretion. The diseases
DE are progressive and often display a wide spectrum of clinical
DE severity. MPS10 is an autosomal recessive childhood-onset disorder.
DE Clinical features include disproportionate short-trunk short stature
DE and skeletal, cardiac, and ophthalmologic abnormalities.
SY Arlysulfatase K deficiency.
SY ARSK deficiency.
SY Mucopolysaccharidosis, type X.
DR MIM; 619698; phenotype.
DR MedGen; CN305743.
DR MeSH; D009083.
KW KW-0510:Mucopolysaccharidosis.
//
ID Mucopolysaccharidosis 1H.
AC DI-00770
AR MPS1H.
DE A severe form of mucopolysaccharidosis type 1, a rare lysosomal
DE storage disease characterized by progressive physical deterioration
DE with urinary excretion of dermatan sulfate and heparan sulfate.
DE Patients with MPS1H usually present, within the first year of life, a
DE combination of hepatosplenomegaly, skeletal deformities, corneal
DE clouding and severe intellectual disability. Obstructive airways
DE disease, respiratory infection and cardiac complications usually
DE result in death before 10 years of age.
SY Alpha-L-iduronidase deficiency.
SY Hurler's syndrome.
SY Hurler syndrome.
SY MPS IH.
SY MPS-IH.
SY Mucopolysaccharidosis type IH.
DR MIM; 607014; phenotype.
DR MedGen; C0086795.
DR MeSH; D008059.
KW KW-0510:Mucopolysaccharidosis.
//
ID Mucopolysaccharidosis 1H/S.
AC DI-00771
AR MPS1H/S.
DE A form of mucopolysaccharidosis type 1, a rare lysosomal storage
DE disease characterized by progressive physical deterioration with
DE urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S
DE represents an intermediate phenotype of the MPS1 clinical spectrum. It
DE is characterized by relatively little neurological involvement, but
DE most of the somatic symptoms described for severe MPS1 develop in the
DE early to mid-teens, causing considerable loss of mobility.
SY Alpha-L-iduronidase deficiency.
SY Hurler-Scheie syndrome.
SY MPS-IH/S.
SY Mucopolysaccharidosis type IH/S.
DR MIM; 607015; phenotype.
DR MedGen; C0086431.
DR MeSH; D008059.
KW KW-0510:Mucopolysaccharidosis.
//
ID Mucopolysaccharidosis 1S.
AC DI-00772
AR MPS1S.
DE A mild form of mucopolysaccharidosis type 1, a rare lysosomal storage
DE disease characterized by progressive physical deterioration with
DE urinary excretion of dermatan sulfate and heparan sulfate. Patients
DE with MPS1S may have little or no neurological involvement, normal
DE stature and life span, but present development of joints stiffness,
DE mild hepatosplenomegaly, aortic valve disease and corneal clouding.
SY Alpha-L-iduronidase deficiency.
SY MPS IS.
SY MPS-IS.
SY MPS V.
SY Mucopolysaccharidosis type IS.
SY Mucopolysaccharidosis type V.
SY Scheie syndrome.
DR MIM; 607016; phenotype.
DR MedGen; C0026708.
DR MeSH; D008059.
KW KW-0510:Mucopolysaccharidosis.
//
ID Mucopolysaccharidosis 2.
AC DI-00773
AR MPS2.
DE An X-linked lysosomal storage disease characterized by intracellular
DE accumulation of heparan sulfate and dermatan sulfate and their
DE excretion in urine. Most children with MPS2 have a severe form with
DE early somatic abnormalities including skeletal deformities,
DE hepatosplenomegaly, and progressive cardiopulmonary deterioration. A
DE prominent feature is neurological damage that presents as
DE developmental delay and hyperactivity but progresses to intellectual
DE disability and dementia. They die before 15 years of age, usually as a
DE result of obstructive airway disease or cardiac failure. In contrast,
DE those with a mild form of MPS2 may survive into adulthood, with
DE attenuated somatic complications and often without intellectual
DE disability.
SY Hunter syndrome.
SY IDS deficiency.
SY Iduronate 2-sulfatase deficiency.
SY MPS II.
SY Mucopolysaccharidosis type II.
SY SIDS deficiency.
SY Sulfoiduronate sulfatase deficiency.
DR MIM; 309900; phenotype.
DR MedGen; C0026705.
DR MeSH; D016532.
KW KW-0510:Mucopolysaccharidosis.
//
ID Mucopolysaccharidosis 3A.
AC DI-00774
AR MPS3A.
DE A severe form of mucopolysaccharidosis type 3, an autosomal recessive
DE lysosomal storage disease due to impaired degradation of heparan
DE sulfate. MPS3 is characterized by severe central nervous system
DE degeneration, but only mild somatic disease. Onset of clinical
DE features usually occurs between 2 and 6 years; severe neurologic
DE degeneration occurs in most patients between 6 and 10 years of age,
DE and death occurs typically during the second or third decade of life.
DE MPS3A is characterized by earlier onset, rapid progression of symptoms
DE and shorter survival.
SY Heparan sulfate sulfatase deficiency.
SY MPS IIIA.
SY Mucopolysaccharidosis type IIIA.
SY Sanfilippo syndrome A.
SY Sulfamidase deficiency.
DR MIM; 252900; phenotype.
DR MedGen; C0086647.
DR MeSH; D009084.
KW KW-0510:Mucopolysaccharidosis.
//
ID Mucopolysaccharidosis 3B.
AC DI-00775
AR MPS3B.
DE A form of mucopolysaccharidosis type 3, an autosomal recessive
DE lysosomal storage disease due to impaired degradation of heparan
DE sulfate. MPS3 is characterized by severe central nervous system
DE degeneration, but only mild somatic disease. Onset of clinical
DE features usually occurs between 2 and 6 years; severe neurologic
DE degeneration occurs in most patients between 6 and 10 years of age,
DE and death occurs typically during the second or third decade of life.
SY MPS IIIB.
SY Mucopolysaccharidosis type IIIB.
SY N-acetyl-alpha-D-glucosaminidase deficiency.
SY NAGLU deficiency.
SY Sanfilippo syndrome B.
DR MIM; 252920; phenotype.
DR MedGen; C0086648.
DR MeSH; D009084.
KW KW-0510:Mucopolysaccharidosis.
//
ID Mucopolysaccharidosis 3C.
AC DI-00776
AR MPS3C.
DE A form of mucopolysaccharidosis type 3, an autosomal recessive
DE lysosomal storage disease due to impaired degradation of heparan
DE sulfate. MPS3 is characterized by severe central nervous system
DE degeneration, but only mild somatic disease. Onset of clinical
DE features usually occurs between 2 and 6 years; severe neurologic
DE degeneration occurs in most patients between 6 and 10 years of age,
DE and death occurs typically during the second or third decade of life.
SY Acetyl-CoA:alpha-glucosaminide N-acetyltransferase deficiency.
SY MPS IIIC.
SY Mucopolysaccharidosis type IIIC.
SY Sanfilippo syndrome C.
DR MIM; 252930; phenotype.
DR MedGen; C0086649.
DR MeSH; D009084.
KW KW-0510:Mucopolysaccharidosis.
//
ID Mucopolysaccharidosis 3D.
AC DI-00777
AR MPS3D.
DE A form of mucopolysaccharidosis type 3, an autosomal recessive
DE lysosomal storage disease due to impaired degradation of heparan
DE sulfate. MPS3 is characterized by severe central nervous system
DE degeneration, but only mild somatic disease. Onset of clinical
DE features usually occurs between 2 and 6 years; severe neurologic
DE degeneration occurs in most patients between 6 and 10 years of age,
DE and death occurs typically during the second or third decade of life.
SY MPS IIID.
SY Mucopolysaccharidosis type IIID.
SY N-acetylglucosamine-6-sulfatase deficiency.
SY Sanfilippo D syndrome.
DR MIM; 252940; phenotype.
DR MedGen; C0086650.
DR MeSH; D009084.
KW KW-0510:Mucopolysaccharidosis.
//
ID Mucopolysaccharidosis 4A.
AC DI-00778
AR MPS4A.
DE A form of mucopolysaccharidosis type 4, an autosomal recessive
DE lysosomal storage disease characterized by intracellular accumulation
DE of keratan sulfate and chondroitin-6-sulfate. Key clinical features
DE include short stature, skeletal dysplasia, dental anomalies, and
DE corneal clouding. Intelligence is normal and there is no direct
DE central nervous system involvement, although the skeletal changes may
DE result in neurologic complications. There is variable severity, but
DE patients with the severe phenotype usually do not survive past the
DE second or third decade of life.
SY Galactosamine-6-sulfatase deficiency.
SY GALNS deficiency.
SY Morquio's syndrome A.
SY Morquio A disease.
SY Morquio syndrome A.
SY MPS IVA.
SY Mucopolysaccharidosis type IVA.
DR MIM; 253000; phenotype.
DR MedGen; C0086651.
DR MeSH; D009085.
KW KW-0510:Mucopolysaccharidosis.
//
ID Mucopolysaccharidosis 4B.
AC DI-00779
AR MPS4B.
DE A form of mucopolysaccharidosis type 4, an autosomal recessive
DE lysosomal storage disease characterized by intracellular accumulation
DE of keratan sulfate and chondroitin-6-sulfate. Key clinical features
DE include short stature, skeletal dysplasia, dental anomalies, and
DE corneal clouding. Intelligence is normal and there is no direct
DE central nervous system involvement, although the skeletal changes may
DE result in neurologic complications. There is variable severity, but
DE patients with the severe phenotype usually do not survive past the
DE second or third decade of life.
SY Morquio's syndrome B.
SY Morquio syndrome B.
SY MPS IVB.
SY MPS-IVB.
SY Mucopolysaccharidosis type IVB.
DR MIM; 253010; phenotype.
DR MedGen; C0086652.
DR MeSH; D009085.
KW KW-0510:Mucopolysaccharidosis.
//
ID Mucopolysaccharidosis 6.
AC DI-00780
AR MPS6.
DE A form of mucopolysaccharidosis, a group of lysosomal storage diseases
DE characterized by defective degradation of glycosaminoglycans,
DE resulting in their excessive accumulation and secretion. The diseases
DE are progressive and often display a wide spectrum of clinical
DE severity. MPS6 is an autosomal recessive form characterized by
DE intracellular accumulation of dermatan sulfate. Clinical features can
DE include abnormal growth, short stature, stiff joints, skeletal
DE malformations, corneal clouding, hepatosplenomegaly, and cardiac
DE abnormalities.
SY ARSB deficiency.
SY Arylsulfatase B deficiency.
SY Maroteaux-Lamy syndrome.
SY MPS VI.
SY Mucopolysaccharidosis type VI.
SY N-acetylgalactosamine-4-sulfatase deficiency.
DR MIM; 253200; phenotype.
DR MedGen; C0026709.
DR MedGen; CN068451.
DR MedGen; CN068452.
DR MedGen; CN068453.
DR MeSH; D009087.
KW KW-0510:Mucopolysaccharidosis.
//
ID Mucopolysaccharidosis 7.
AC DI-00781
AR MPS7.
DE A form of mucopolysaccharidosis, a group of lysosomal storage diseases
DE characterized by defective degradation of glycosaminoglycans,
DE resulting in their excessive accumulation and secretion. The diseases
DE are progressive and often display a wide spectrum of clinical
DE severity. MPS7 is an autosomal recessive form with a highly variable
DE phenotype, ranging from severe lethal hydrops fetalis to mild forms
DE with survival into adulthood. Most patients with the intermediate
DE phenotype show hepatomegaly, skeletal anomalies, coarse facies, and
DE variable degrees of mental impairment.
SY Beta-glucuronidase deficiency.
SY GUSB deficiency.
SY MPS VII.
SY Mucopolysaccharidosis type VII.
SY Sly syndrome.
DR MIM; 253220; phenotype.
DR MedGen; C0085132.
DR MeSH; D016538.
KW KW-0510:Mucopolysaccharidosis.
//
ID Mucopolysaccharidosis 9.
AC DI-00782
AR MPS9.
DE A form of mucopolysaccharidosis, a group of lysosomal storage diseases
DE characterized by defective degradation of glycosaminoglycans,
DE resulting in their excessive accumulation and secretion. The diseases
DE are progressive and often display a wide spectrum of clinical
DE severity. MPS9 is an autosomal recessive form characterized by high
DE hyaluronan concentration in the serum. Clinical features include
DE periarticular soft tissue masses, mild short stature and acetabular
DE erosions, and absence of neurological or visceral involvement.
SY Hyaluronidase deficiency.
SY MPS IX.
SY Mucopolysaccharidosis type IX.
DR MIM; 601492; phenotype.
DR MedGen; C1291490.
DR MeSH; D009083.
KW KW-0510:Mucopolysaccharidosis.
//
ID Mucopolysaccharidosis-plus syndrome.
AC DI-04927
AR MPSPS.
DE A form of mucopolysaccharidosis, a group of lysosomal storage diseases
DE characterized by defective degradation of glycosaminoglycans,
DE resulting in their excessive accumulation and secretion. The diseases
DE are progressive and often display a wide spectrum of clinical
DE severity. MPSPS is an autosomal recessive form characterized by coarse
DE facial features, dysostosis multiplex, hepatosplenomegaly, respiratory
DE difficulties, intellectual disability, developmental delay, pyramidal
DE signs, severe chronic anemia, renal involvement and cardiac defects.
DE Laboratory analyses show proteinuria with glomerular foamy cells,
DE excess secretion of urinary glycosaminoglycans, and extremely high
DE levels of plasma heparan sulphate. Disease onset is in infancy. Most
DE patients die in the first years of life due to cardiorespiratory
DE failure.
DR MIM; 617303; phenotype.
DR MedGen; CN239958.
DR MeSH; D009083.
KW KW-0510:Mucopolysaccharidosis.
//
ID Muenke syndrome.
AC DI-00784
AR MNKS.
DE A condition characterized by premature closure of coronal suture of
DE skull during development (coronal craniosynostosis), which affects the
DE shape of the head and face. It may be uni- or bilateral. When
DE bilateral, it is characterized by a skull with a small antero-
DE posterior diameter (brachycephaly), often with a decrease in the depth
DE of the orbits and hypoplasia of the maxillae. Unilateral closure of
DE the coronal sutures leads to flattening of the orbit on the involved
DE side (plagiocephaly). The intellect is normal. In addition to coronal
DE craniosynostosis some affected individuals show skeletal abnormalities
DE of hands and feet, sensorineural hearing loss, intellectual disability
DE and respiratory insufficiency.
SY FGFR3-associated coronal synostosis.
SY FGFR3-related craniosynostosis.
SY FGFR3-related isolated coronal synostosis.
SY Muenke non-syndromic coronal craniosynostosis.
DR MIM; 602849; phenotype.
DR MedGen; C1864436.
DR MeSH; D003398.
KW KW-0989:Craniosynostosis.
//
ID Muir-Torre syndrome.
AC DI-02000
AR MRTES.
DE Rare autosomal dominant disorder characterized by sebaceous neoplasms
DE and visceral malignancy.
SY MTS.
DR MIM; 158320; phenotype.
DR MedGen; C1321489.
//
ID Mulibrey nanism.
AC DI-02001
AR MUL.
DE An autosomal recessive growth disorder characterized by severe growth
DE failure of prenatal onset, constrictive pericardium and progressive
DE cardiomyopathy, facial dysmorphism, and failure of sexual maturation.
DE Additional clinical features include hepatomegaly, muscle hypotonia,
DE J-shaped sella turcica, yellowish dots in the ocular fundi, hypoplasia
DE of various endocrine glands, insulin resistance with type 2 diabetes,
DE and an increased risk for Wilms' tumor.
SY Muscle-liver-brain-eye nanism.
SY Perheentupa syndrome.
SY Pericardial constriction and growth failure.
DR MIM; 253250; phenotype.
DR MedGen; C0524582.
DR MeSH; D050336.
KW KW-0242:Dwarfism.
//
ID Mullegama-Klein-Martinez syndrome.
AC DI-05502
AR MKMS.
DE An X-linked neurodevelopmental disorder with variable features
DE including intellectual deficiency, microcephaly, microtia, hearing
DE loss, developmental delay, dysmorphic features, language delay,
DE congenital heart defect, and clinodactyly of the 5th finger.
SY NEDXCF.
SY Neurodevelopmental disorder, X-linked, with craniofacial abnormalities.
DR MIM; 301022; phenotype.
DR MedGen; CN258252.
DR MeSH; D000015.
DR MeSH; D065886.
//
ID Mullerian aplasia and hyperandrogenism.
AC DI-01999
AR MULLAPL.
DE A disorder of sex development. Affected females manifest dysgenesis of
DE Mullerian duct derivatives absent or rudimentary uterus and vagina,
DE functional ovaries, primary amenorrhea, hyperandrogenism and
DE hirsutism.
SY Mullerian duct failure and hyperandrogenism.
DR MIM; 158330; phenotype.
DR MedGen; C2675014.
DR MeSH; D058489.
//
ID Multicentric carpotarsal osteolysis syndrome.
AC DI-03436
AR MCTO.
DE A rare skeletal disorder, usually presenting in early childhood with a
DE clinical picture mimicking juvenile rheumatoid arthritis. Progressive
DE destruction of the carpal and tarsal bone usually occurs and other
DE bones may also be involved. Chronic renal failure is a frequent
DE component of the syndrome. Intellectual disability and minor facial
DE anomalies have been noted in some patients.
SY Autosomal dominant multicentric osteolysis.
SY Hereditary osteolysis of carpal bones with or without nephropathy.
DR MIM; 166300; phenotype.
DR MedGen; C2674705.
DR MeSH; D010014.
//
ID Multicentric osteolysis, nodulosis, and arthropathy.
AC DI-02374
AR MONA.
DE An autosomal recessive syndrome characterized by severe multicentric
DE osteolysis with predominant involvement of the hands and feet.
DE Additional features include coarse face, corneal opacities, patches of
DE thickened, hyperpigmented skin, hypertrichosis and gum hypertrophy.
SY Al-Aqeel Sewairi syndrome.
SY Hereditary multicentric osteolysis.
SY NAO syndrome.
SY Nodulosis-arthropathy-osteolysis syndrome.
SY Torg syndrome.
SY Torg-Winchester syndrome.
DR MIM; 259600; phenotype.
DR MedGen; C1850155.
DR MeSH; D010014.
//
ID Multiminicore disease with external ophthalmoplegia.
AC DI-02002
AR MMDO.
DE Clinically heterogeneous neuromuscular disorder. General features
DE include neonatal hypotonia, delayed motor development, and generalized
DE muscle weakness and amyotrophy, which may progress slowly or remain
DE stable. Muscle biopsy shows multiple, poorly circumscribed, short
DE areas of sarcomere disorganization and mitochondria depletion (areas
DE termed minicores) in most muscle fibers. Typically, no dystrophic
DE signs, such as muscle fiber necrosis or regeneration or significant
DE endomysial fibrosis, are present in multiminicore disease.
SY Minicore myopathy with external ophthalmoplegia.
SY Multicore myopathy with external ophthalmoplegia.
DR MIM; 255320; phenotype.
DR MedGen; C1850674.
//
ID Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly.
AC DI-05054
AR MARCH.
DE An autosomal recessive, congenital disease characterized by severe
DE hydranencephaly with multinucleated neurons, renal aplasia or
DE dysplasia, and hypoplastic kidneys. Hydranencephaly is an anomaly
DE leading to replacement of the cerebral hemispheres with a fluid-filled
DE cyst. MARCH results in death in utero or in the perinatal period.
SY Hydranencephaly with renal aplasia-dysplasia.
DR MIM; 236500; phenotype.
DR MedGen; C1856053.
DR MeSH; D006832.
DR MeSH; D007674.
//
ID Multiple congenital anomalies-hypotonia-seizures syndrome 1.
AC DI-03203
AR MCAHS1.
DE An autosomal recessive disorder characterized by neonatal hypotonia,
DE lack of psychomotor development, seizures, dysmorphic features, and
DE variable congenital anomalies involving the cardiac, urinary, and
DE gastrointestinal systems. Most affected individuals die before 3 years
DE of age.
SY Glycosylphosphatidylinositol biosynthesis defect 3.
SY GPIBD3.
DR MIM; 614080; phenotype.
DR MedGen; C3279775.
DR MedGen; CN077657.
DR MeSH; D000015.
KW KW-0887:Epilepsy.
//
ID Multiple congenital anomalies-hypotonia-seizures syndrome 2.
AC DI-03403
AR MCAHS2.
DE An X-linked recessive developmental disorder characterized by
DE dysmorphic features, neonatal hypotonia, myoclonic seizures, and
DE variable congenital anomalies involving the central nervous, cardiac,
DE and urinary systems. Most affected individuals die in infancy.
SY EIEE20.
SY Epileptic encephalopathy, early infantile, 20.
SY FCCS.
SY Ferro-cerebro-cutaneous syndrome.
SY Glycosylphosphatidylinositol biosynthesis defect 4.
SY GPIBD4.
DR MIM; 300868; phenotype.
DR MedGen; C3275508.
DR MeSH; D000015.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Multiple congenital anomalies-hypotonia-seizures syndrome 3.
AC DI-03879
AR MCAHS3.
DE An autosomal recessive syndrome characterized by distinct facial
DE features, intellectual disability, hypotonia and seizures, in
DE combination with abnormal skeletal, endocrine, and ophthalmologic
DE findings including impaired vision, as well as abnormal motility of
DE the eyes.
SY Glycosylphosphatidylinositol biosynthesis defect 7.
SY GPIBD7.
DR MIM; 615398; phenotype.
DR MedGen; C3809356.
DR MedGen; CN179948.
DR MeSH; D000015.
KW KW-0887:Epilepsy.
//
ID Multiple congenital anomalies-hypotonia-seizures syndrome 4.
AC DI-05640
AR MCAHS4.
DE An autosomal recessive syndrome characterized by onset of refractory
DE seizures in the first months of life. Additional clinical features
DE include severe global developmental delay, dysmorphic facial features,
DE and skeletal, renal and ophthalmic anomalies. At the cellular level,
DE the disorder is caused by a defect in the synthesis of
DE glycosylphosphatidylinositol (GPI).
SY EIEE77.
SY Epileptic encephalopathy, early infantile, 77.
SY Glycosylphosphatidylinositol biosynthesis defect 19.
SY GPIBD19.
DR MIM; 618548; phenotype.
DR MedGen; CN262219.
DR MeSH; D013036.
KW KW-0887:Epilepsy.
//
ID Multiple congenital anomalies-neurodevelopmental syndrome, X-linked.
AC DI-06024
AR MCAND.
DE An X-linked recessive, congenital disorder characterized by central
DE nervous system, craniofacial, cardiac, skeletal, and genitourinary
DE anomalies. Clinical features include poor growth, short stature,
DE global developmental delay, impaired intellectual development,
DE microcephaly, hydrocephalus, hypotonia, congenital heart defects,
DE hypospadias, and other variable abnormalities. Brain imaging typically
DE shows ventriculomegaly and thin corpus callosum. The severity of the
DE disorder is highly variable, ranging from death in early infancy to
DE survival into the second or third decade.
SY Linkage-specific deubiquitylation deficiency-induced embryonic defects.
SY LINKED syndrome.
DR MIM; 301056; phenotype.
DR MedGen; CN295264.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Multiple endocrine neoplasia 4.
AC DI-02004
AR MEN4.
DE Multiple endocrine neoplasia (MEN) syndromes are inherited cancer
DE syndromes of the thyroid. MEN4 is a MEN-like syndrome with a
DE phenotypic overlap of both MEN1 and MEN2.
DR MIM; 610755; phenotype.
DR MedGen; C1970712.
//
ID Multiple epiphyseal dysplasia 1.
AC DI-00785
AR EDM1.
DE A generalized skeletal dysplasia associated with significant
DE morbidity. Joint pain, joint deformity, waddling gait, and short
DE stature are the main clinical signs and symptoms. Radiological
DE examination of the skeleton shows delayed, irregular mineralization of
DE the epiphyseal ossification centers and of the centers of the carpal
DE and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized
DE into the more severe Fairbank and the milder Ribbing types. The
DE Fairbank type is characterized by shortness of stature, short and
DE stubby fingers, small epiphyses in several joints, including the knee,
DE ankle, hand, and hip. The Ribbing type is confined predominantly to
DE the hip joints and is characterized by hands that are normal and
DE stature that is normal or near-normal.
DR MIM; 132400; phenotype.
DR MedGen; C1838280.
DR MedGen; C1851537.
DR MedGen; C1851538.
DR MeSH; D010009.
//
ID Multiple epiphyseal dysplasia 2.
AC DI-00786
AR EDM2.
DE A generalized skeletal dysplasia associated with significant
DE morbidity. Joint pain, joint deformity, waddling gait, and short
DE stature are the main clinical signs and symptoms. Radiological
DE examination of the skeleton shows delayed, irregular mineralization of
DE the epiphyseal ossification centers and of the centers of the carpal
DE and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized
DE into the more severe Fairbank and the milder Ribbing types. The
DE Fairbank type is characterized by shortness of stature, short and
DE stubby fingers, small epiphyses in several joints, including the knee,
DE ankle, hand, and hip. The Ribbing type is confined predominantly to
DE the hip joints and is characterized by hands that are normal and
DE stature that is normal or near-normal.
DR MIM; 600204; phenotype.
DR MedGen; C1838429.
DR MeSH; D010009.
//
ID Multiple epiphyseal dysplasia 3.
AC DI-00787
AR EDM3.
DE A generalized skeletal dysplasia associated with significant
DE morbidity. Joint pain, joint deformity, waddling gait, and short
DE stature are the main clinical signs and symptoms. Radiological
DE examination of the skeleton shows delayed, irregular mineralization of
DE the epiphyseal ossification centers and of the centers of the carpal
DE and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized
DE into the more severe Fairbank and the milder Ribbing types. The
DE Fairbank type is characterized by shortness of stature, short and
DE stubby fingers, small epiphyses in several joints, including the knee,
DE ankle, hand, and hip. The Ribbing type is confined predominantly to
DE the hip joints and is characterized by hands that are normal and
DE stature that is normal or near-normal.
DR MIM; 600969; phenotype.
DR MedGen; C1832998.
DR MedGen; C3152083.
DR MeSH; D010009.
//
ID Multiple epiphyseal dysplasia 4.
AC DI-00788
AR EDM4.
DE A generalized skeletal dysplasia associated with significant
DE morbidity. Joint pain, joint deformity, waddling gait, and short
DE stature are the main clinical signs and symptoms. Radiological
DE examination of the skeleton shows delayed, irregular mineralization of
DE the epiphyseal ossification centers and of the centers of the carpal
DE and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized
DE into the more severe Fairbank and the milder Ribbing types. The
DE Fairbank type is characterized by shortness of stature, short and
DE stubby fingers, small epiphyses in several joints, including the knee,
DE ankle, hand, and hip. The Ribbing type is confined predominantly to
DE the hip joints and is characterized by hands that are normal and
DE stature that is normal or near-normal. Multiple epiphyseal dysplasia
DE type 4 is a recessively inherited form, characterized by early
DE childhood-onset hip dysplasia and recurrent patella dislocation. Short
DE stature is not frequent.
DR MIM; 226900; phenotype.
DR MedGen; C1847593.
DR MeSH; D010009.
//
ID Multiple epiphyseal dysplasia 5.
AC DI-00789
AR EDM5.
DE A generalized skeletal dysplasia associated with significant
DE morbidity. Joint pain, joint deformity, waddling gait, and short
DE stature are the main clinical signs and symptoms. Radiological
DE examination of the skeleton shows delayed, irregular mineralization of
DE the epiphyseal ossification centers and of the centers of the carpal
DE and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized
DE into the more severe Fairbank and the milder Ribbing types. The
DE Fairbank type is characterized by shortness of stature, short and
DE stubby fingers, small epiphyses in several joints, including the knee,
DE ankle, hand, and hip. The Ribbing type is confined predominantly to
DE the hip joints and is characterized by hands that are normal and
DE stature that is normal or near-normal. Multiple epiphyseal dysplasia
DE type 5 is relatively mild and clinically variable. It is primarily
DE characterized by delayed and irregular ossification of the epiphyses
DE and early-onset osteoarthritis.
DR MIM; 607078; phenotype.
DR MedGen; C1846843.
DR MeSH; D010009.
//
ID Multiple epiphyseal dysplasia 6.
AC DI-01355
AR EDM6.
DE A generalized skeletal dysplasia associated with significant
DE morbidity. Joint pain, joint deformity, waddling gait, and short
DE stature are the main clinical signs and symptoms. Radiological
DE examination of the skeleton shows delayed, irregular mineralization of
DE the epiphyseal ossification centers and of the centers of the carpal
DE and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized
DE into the more severe Fairbank and the milder Ribbing types. The
DE Fairbank type is characterized by shortness of stature, short and
DE stubby fingers, small epiphyses in several joints, including the knee,
DE ankle, hand, and hip. The Ribbing type is confined predominantly to
DE the hip joints and is characterized by hands that are normal and
DE stature that is normal or near-normal.
DR MIM; 614135; phenotype.
DR MedGen; CN071420.
DR MeSH; D010009.
//
ID Multiple epiphyseal dysplasia with myopia and conductive deafness.
AC DI-00790
AR EDMMD.
DE A generalized skeletal dysplasia associated with significant
DE morbidity. Joint pain, joint deformity, waddling gait, and short
DE stature are the main clinical signs and symptoms. EDMMD is an
DE autosomal dominant disorder characterized by epiphyseal dysplasia
DE associated with progressive myopia, retinal thinning, crenated
DE cataracts, conductive deafness.
DR MIM; 132450; phenotype.
DR MedGen; C1851536.
DR MeSH; D010009.
//
ID Multiple familial trichoepithelioma 1.
AC DI-02007
AR MFT1.
DE Autosomal dominant dermatosis characterized by the presence of many
DE skin tumors predominantly on the face. Since histologic examination
DE shows dermal aggregates of basaloid cells with connection to or
DE differentiation toward hair follicles, this disorder has been thought
DE to represent a benign hamartoma of the pilosebaceous apparatus.
DE Trichoepitheliomas can degenerate into basal cell carcinoma.
SY Brooke-Fordyce trichoepitheliomas.
SY EAC.
SY Epithelioma adenoides cysticum of Brooke.
SY Hereditary multiple benign cystic epithelioma.
DR MIM; 601606; phenotype.
DR MedGen; C1275122.
//
ID Multiple fibroadenomas of the breast.
AC DI-03981
AR MFAB.
DE A benign breast disease marked by lobuloalveolar growth with
DE abnormally high proliferation of the epithelium, and characterized by
DE the presence of more than 3 fibroadenomas in one breast. Fibroadenomas
DE are adenomas containing fibrous tissue.
DR MIM; 615554; phenotype.
DR MedGen; C3809918.
DR MedGen; CN182243.
DR MeSH; D018226.
//
ID Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects.
AC DI-03269
AR JDSCD.
DE An autosomal recessive disease characterized by dysmorphic facies,
DE bilateral dislocations of the elbows, hips, and knees, clubfeet, and
DE short stature, as well as cardiovascular defects.
SY Autosomal recessive Larsen syndrome.
SY Larsen-like syndrome.
SY Larsen-like syndrome B3GAT3 type.
DR MIM; 245600; phenotype.
DR MedGen; C1855536.
DR MedGen; C3278404.
DR MeSH; D000015.
DR MeSH; D004204.
//
ID Multiple mitochondrial dysfunctions syndrome 1.
AC DI-03293
AR MMDS1.
DE A severe disorder of systemic energy metabolism, resulting in
DE weakness, respiratory failure, lack of neurologic development, lactic
DE acidosis, hyperglycinemia and early death. Some patients show failure
DE to thrive, pulmonary hypertension, hypotonia and irritability.
DE Biochemical features include severe combined deficiency of the 2-
DE oxoacid dehydrogenases, defective lipoic acid synthesis and reduction
DE in activity of mitochondrial respiratory chain complexes.
SY MMDS.
DR MIM; 605711; phenotype.
DR MedGen; C1854052.
DR MedGen; C3276432.
DR MeSH; D028361.
//
ID Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia.
AC DI-03294
AR MMDS2.
DE A severe disorder of systemic energy metabolism, resulting in
DE weakness, respiratory failure, lack of neurologic development, lactic
DE acidosis, hyperglycinemia and early death. Some patients show failure
DE to thrive, pulmonary hypertension, hypotonia and irritability.
DE Biochemical features include severe combined deficiency of the 2-
DE oxoacid dehydrogenases, defective lipoic acid synthesis and reduction
DE in activity of mitochondrial respiratory chain complexes.
DR MIM; 614299; phenotype.
DR MedGen; C3280378.
DR MeSH; D028361.
//
ID Multiple mitochondrial dysfunctions syndrome 3.
AC DI-03800
AR MMDS3.
DE A severe disorder of systemic energy metabolism, resulting in
DE weakness, respiratory failure, lack of neurologic development, lactic
DE acidosis, hyperglycinemia and early death. Some patients show failure
DE to thrive, pulmonary hypertension, hypotonia and irritability.
DE Biochemical features include severe combined deficiency of the 2-
DE oxoacid dehydrogenases, defective lipoic acid synthesis and reduction
DE in activity of mitochondrial respiratory chain complexes.
DR MIM; 615330; phenotype.
DR MedGen; C3809165.
DR MedGen; CN178072.
DR MeSH; D028361.
//
ID Multiple mitochondrial dysfunctions syndrome 4.
AC DI-04429
AR MMDS4.
DE A severe disorder of systemic energy metabolism, resulting in
DE weakness, respiratory failure, lack of neurologic development, lactic
DE acidosis, hyperglycinemia and early death.
DR MIM; 616370; phenotype.
DR MedGen; CN230442.
DR MeSH; D028361.
//
ID Multiple mitochondrial dysfunctions syndrome 5.
AC DI-05070
AR MMDS5.
DE An autosomal recessive, severe disorder characterized by early onset
DE neurological deterioration, seizures, cerebral and cerebellar
DE leukodystrophy, dysmyelination, cortical migrational abnormalities,
DE lactic acidosis and early demise.
DR MIM; 617613; phenotype.
DR MedGen; CN388855.
DR MeSH; D028361.
//
ID Multiple mitochondrial dysfunctions syndrome 6.
AC DI-05241
AR MMDS6.
DE An autosomal recessive, neurodegenerative disorder characterized by
DE basal ganglia lesions, cerebellar atrophy, and neurologic regression
DE in the first year of life. Common features include truncal hypotonia,
DE lack of independent ambulation, poor speech, intellectual disability,
DE and motor abnormalities, such as ataxia, dystonia, and spasticity.
DR MIM; 617954; phenotype.
DR MedGen; CN244567.
DR MeSH; D028361.
KW KW-0523:Neurodegeneration.
//
ID Multiple myeloma.
AC DI-02700
AR MM.
DE A malignant tumor of plasma cells usually arising in the bone marrow
DE and characterized by diffuse involvement of the skeletal system,
DE hyperglobulinemia, Bence-Jones proteinuria and anemia. Complications
DE of multiple myeloma are bone pain, hypercalcemia, renal failure and
DE spinal cord compression. The aberrant antibodies that are produced
DE lead to impaired humoral immunity and patients have a high prevalence
DE of infection. Amyloidosis may develop in some patients. Multiple
DE myeloma is part of a spectrum of diseases ranging from monoclonal
DE gammopathy of unknown significance (MGUS) to plasma cell leukemia.
DR MIM; 254500; phenotype.
DR MedGen; C0026764.
DR MedGen; C0268381.
DR MeSH; D009101.
//
ID Multiple neoplasia 2A.
AC DI-02008
AR MEN2A.
DE The most frequent form of medullary thyroid cancer (MTC). It is an
DE inherited cancer syndrome characterized by MTC, phaeochromocytoma
DE and/or hyperparathyroidism.
SY MEN2.
SY Multiple neoplasia type 2.
DR MIM; 171400; phenotype.
DR MedGen; C0025268.
//
ID Multiple neoplasia 2B.
AC DI-02009
AR MEN2B.
DE Uncommon inherited cancer syndrome characterized by predisposition to
DE MTC and phaeochromocytoma which is associated with marfanoid habitus,
DE mucosal neuromas, skeletal and ophthalmic abnormalities, and
DE ganglioneuromas of the intestine tract. Then the disease progresses
DE rapidly with the development of metastatic MTC and a pheochromocytome
DE in 50% of cases.
DR MIM; 162300; phenotype.
DR MedGen; C0025269.
//
ID Multiple pterygium syndrome, Escobar variant.
AC DI-01536
AR EVMPS.
DE Non-lethal form of arthrogryposis multiplex congenita. It is an
DE autosomal recessive condition characterized by excessive webbing
DE (pterygia), congenital contractures (arthrogryposis), and scoliosis.
DE Variable other features include intrauterine death, congenital
DE respiratory distress, short stature, faciocranial dysmorphism, ptosis,
DE low-set ears, arachnodactyly and cryptorchism in males. Congenital
DE contractures are common and may be caused by reduced fetal movements
DE at sensitive times of development. Possible causes of decreased fetal
DE mobility include space constraints such as oligohydramnion, drugs,
DE metabolic conditions or neuromuscular disorders including myasthenia
DE gravis.
SY Escobar syndrome.
SY Multiple pterygium syndrome.
SY Multiple pterygium syndrome, non-lethal type.
SY Nonlethal type multiple pterygium syndrome.
SY Pterygium colli syndrome.
SY Pterygium syndrome.
SY Pterygium universale.
DR MIM; 265000; phenotype.
DR MedGen; CN031762.
//
ID Multiple pterygium syndrome, lethal type.
AC DI-01895
AR LMPS.
DE Multiple pterygia are found infrequently in children with
DE arthrogryposis and in fetuses with fetal akinesia syndrome. In lethal
DE multiple pterygium syndrome there is intrauterine growth retardation,
DE multiple pterygia, and flexion contractures causing severe
DE arthrogryposis and fetal akinesia. Subcutaneous edema can be severe,
DE causing fetal hydrops with cystic hygroma and lung hypoplasia.
DE Oligohydramnios and facial anomalies are frequent.
DR MIM; 253290; phenotype.
DR MedGen; C1854678.
//
ID Multiple sclerosis.
AC DI-02604
AR MS.
DE A multifactorial, inflammatory, demyelinating disease of the central
DE nervous system. Sclerotic lesions are characterized by perivascular
DE infiltration of monocytes and lymphocytes and appear as indurated
DE areas in pathologic specimens (sclerosis in plaques). The pathological
DE mechanism is regarded as an autoimmune attack of the myelin sheath,
DE mediated by both cellular and humoral immunity. Clinical
DE manifestations include visual loss, extra-ocular movement disorders,
DE paresthesias, loss of sensation, weakness, dysarthria, spasticity,
DE ataxia and bladder dysfunction. Genetic and environmental factors
DE influence susceptibility to the disease.
DR MIM; 126200; phenotype.
DR MedGen; C1868685.
DR MeSH; D009103.
//
ID Multiple sclerosis 3.
AC DI-02605
AR MS3.
DE A multifactorial, inflammatory, demyelinating disease of the central
DE nervous system. Sclerotic lesions are characterized by perivascular
DE infiltration of monocytes and lymphocytes and appear as indurated
DE areas in pathologic specimens (sclerosis in plaques). The pathological
DE mechanism is regarded as an autoimmune attack of the myelin sheath,
DE mediated by both cellular and humoral immunity. Clinical
DE manifestations include visual loss, extra-ocular movement disorders,
DE paresthesias, loss of sensation, weakness, dysarthria, spasticity,
DE ataxia and bladder dysfunction. Genetic and environmental factors
DE influence susceptibility to the disease.
DR MIM; 612595; phenotype.
DR MedGen; C2675477.
DR MeSH; D009103.
//
ID Multiple sclerosis 5.
AC DI-03521
AR MS5.
DE A multifactorial, inflammatory, demyelinating disease of the central
DE nervous system. Sclerotic lesions are characterized by perivascular
DE infiltration of monocytes and lymphocytes and appear as indurated
DE areas in pathologic specimens (sclerosis in plaques). The pathological
DE mechanism is regarded as an autoimmune attack of the myelin sheath,
DE mediated by both cellular and humoral immunity. Clinical
DE manifestations include visual loss, extra-ocular movement disorders,
DE paresthesias, loss of sensation, weakness, dysarthria, spasticity,
DE ataxia and bladder dysfunction. Genetic and environmental factors
DE influence susceptibility to the disease.
DR MIM; 614810; phenotype.
DR MedGen; C3553728.
DR MedGen; CN143709.
DR MeSH; D009103.
//
ID Multiple self-healing squamous epithelioma.
AC DI-03159
AR MSSE.
DE A disorder characterized by multiple skin tumors that undergo
DE spontaneous regression. Tumors appear most often on sun-exposed
DE regions, are locally invasive, and undergo spontaneous resolution over
DE a period of months leaving pitted scars.
SY ESS1.
SY Ferguson-Smith disease.
SY Ferguson-Smith type epithelioma.
SY Self-healing squamous epithelioma type 1.
DR MIM; 132800; phenotype.
DR MedGen; C0546476.
DR MeSH; D007636.
//
ID Multiple sulfatase deficiency.
AC DI-00791
AR MSD.
DE A clinically and biochemically heterogeneous disorder caused by the
DE simultaneous impairment of all sulfatases, due to defective post-
DE translational modification and activation. It combines features of
DE individual sulfatase deficiencies such as metachromatic
DE leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata,
DE hydrocephalus, ichthyosis, neurologic deterioration and developmental
DE delay.
SY Mucosulfatidosis.
SY Sulfatidosis juvenile Austin type.
DR MIM; 272200; phenotype.
DR MedGen; C0268263.
DR MedGen; C1720864.
DR MeSH; D052517.
KW KW-0478:Metachromatic leukodystrophy.
KW KW-0977:Ichthyosis.
//
ID Multiple synostoses syndrome 1.
AC DI-02010
AR SYNS1.
DE A bone disease characterized by multiple progressive joint fusions
DE that commonly involve proximal interphalangeal, tarsal-carpal,
DE humeroradial and cervical spine joints. Additional features can
DE include progressive conductive deafness and facial dysmorphism.
SY Deafness-symphalangism syndrome of Herrmann.
SY Facioaudiosymphalangism syndrome.
SY Symphalangism-brachydactyly syndrome.
SY Synostoses multiple with brachydactyly.
SY WL syndrome.
DR MIM; 186500; phenotype.
DR MedGen; C0342282.
DR MeSH; D013580.
KW KW-0209:Deafness.
//
ID Multiple synostoses syndrome 2.
AC DI-02011
AR SYNS2.
DE A bone disease characterized by multiple progressive joint fusions
DE that commonly involve proximal interphalangeal, tarsal-carpal,
DE humeroradial and cervical spine joints. Additional features can
DE include progressive conductive deafness and facial dysmorphism.
DR MIM; 610017; phenotype.
DR MedGen; C1832708.
DR MeSH; D013580.
//
ID Multiple synostoses syndrome 3.
AC DI-02564
AR SYNS3.
DE A bone disease characterized by multiple progressive joint fusions
DE that commonly involve proximal interphalangeal, tarsal-carpal,
DE humeroradial and cervical spine joints. Additional features can
DE include progressive conductive deafness and facial dysmorphism.
DR MIM; 612961; phenotype.
DR MedGen; C2751826.
DR MeSH; D013580.
//
ID Multiple synostoses syndrome 4.
AC DI-05210
AR SYNS4.
DE A bone disease characterized by multiple progressive joint fusions
DE that commonly involve proximal interphalangeal, tarsal-carpal,
DE humeroradial and cervical spine joints. Additional features can
DE include progressive conductive deafness and facial dysmorphism. SYNS4
DE inheritance is autosomal dominant.
DR MIM; 617898; phenotype.
DR MedGen; CN842246.
DR MeSH; D013580.
//
ID Multiple system atrophy 1.
AC DI-03867
AR MSA1.
DE A progressive neurodegenerative disorder clinically characterized by
DE parkinsonism, cerebellar ataxia, and autonomic, urogenital, and
DE pyramidal dysfunction in various combinations. Pathologically, it is
DE characterized by degeneration of striatonigral and
DE olivopontocerebellar structures, and glial cytoplasmic inclusions that
DE consist of abnormally phosphorylated alpha-synuclein or tau.
DR MIM; 146500; phenotype.
DR MedGen; C0020651.
DR MedGen; C0037019.
DR MedGen; C0393571.
DR MedGen; C0393911.
DR MedGen; C3714927.
DR MeSH; D019578.
KW KW-0523:Neurodegeneration.
KW KW-0908:Parkinsonism.
//
ID Multisystemic smooth muscle dysfunction syndrome.
AC DI-03109
AR MSMDS.
DE A syndrome characterized by dysfunction of smooth muscle cells
DE throughout the body, leading to aortic and cerebrovascular disease,
DE fixed dilated pupils, hypotonic bladder, malrotation, and
DE hypoperistalsis of the gut and pulmonary hypertension.
SY Mydriasis congenital with patent ductus arteriosus thoracic aortic aneurysm and vasculopathy.
DR MIM; 613834; phenotype.
DR MedGen; C3151201.
DR MeSH; D014652.
DR MeSH; D015878.
//
ID Mungan syndrome.
AC DI-05340
AR MGS.
DE An autosomal recessive disease characterized by visceral
DE neuromyopathy, intestinal dysmotility and chronic intestinal
DE pseudoobstruction, megaduodenum, long-segment Barrett esophagus, and a
DE variety of cardiac valve or septal defects such as membranous
DE ventricular septal defect, pulmonary and tricuspid valve
DE regurgitation.
SY Pseudoobstruction, chronic idiopathic intestinal, with Barrett esophagus and cardiac abnormalities.
SY Visceral neuromyopathy, familial, with pseudoobstruction, megaduodenum, Barrett esophagus, and cardiac abnormalities.
DR MIM; 611376; phenotype.
DR MedGen; C1969653.
DR MeSH; D001471.
DR MeSH; D007418.
//
ID Muscle glycogen storage disease 0.
AC DI-02012
AR GSD0b.
DE Metabolic disorder characterized by fasting hypoglycemia presenting in
DE infancy or early childhood. The role of muscle glycogen is to provide
DE critical energy during bursts of activity and sustained muscle work.
SY Muscle glycogen synthase deficiency.
DR MIM; 611556; phenotype.
DR MedGen; C1969054.
//
ID Muscle hypertrophy.
AC DI-03210
AR MSLHP.
DE A condition characterized by increased muscle bulk and strength.
DE Affected individuals are exceptionally strong.
DR MIM; 614160; phenotype.
DR MedGen; CN069079.
DR MeSH; D006984.
DR MeSH; D009135.
//
ID Muscular dystrophy congenital due to integrin alpha-7 deficiency.
AC DI-02701
AR MDCI.
DE A form of congenital muscular dystrophy. Patients present at birth, or
DE within the first few months of life, with hypotonia, muscle weakness
DE and often with joint contractures.
SY Congenital myopathy due to integrin alpha-7 deficiency.
DR MIM; 613204; phenotype.
DR MedGen; C2750786.
DR MedGen; CN187051.
DR MeSH; D009136.
KW KW-0912:Congenital muscular dystrophy.
//
ID Muscular dystrophy congenital LMNA-related.
AC DI-02702
AR MDCL.
DE A form of congenital muscular dystrophy. Patients present at birth, or
DE within the first few months of life, with hypotonia, muscle weakness
DE and often with joint contractures.
DR MIM; 613205; phenotype.
DR MedGen; C2750785.
DR MeSH; D009136.
KW KW-0912:Congenital muscular dystrophy.
//
ID Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue.
AC DI-04660
AR MDRCMTT.
DE An autosomal recessive muscular dystrophy characterized by childhood-
DE onset of muscle weakness progressing to a severe quadriparesis.
DE Additionally, patients have biventricular cardiac dysfunction due to
DE dilated cardiomyopathy, and macroglossia with a small tip resulting in
DE a triangular tongue.
SY LGMD2W.
SY Limb-girdle muscular dystrophy 2W.
SY Muscular dystrophy, limb-girdle, type 2W.
DR MIM; 616827; phenotype.
DR MedGen; CN235330.
DR MeSH; D049288.
KW KW-0947:Limb-girdle muscular dystrophy.
//
ID Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome.
AC DI-06221
AR MDHLO.
DE An autosomal recessive disorder characterized by early-onset
DE progressive muscle weakness, sensorineural hearing loss, and primary
DE amenorrhea due to ovarian insufficiency. Some patients become
DE wheelchair-bound by the second decade, whereas others have a milder
DE phenotype and maintain independent ambulation into adulthood. Most
DE patients have respiratory insufficiency.
DR MIM; 619518; phenotype.
DR MedGen; CN300442.
DR MeSH; D006319.
DR MeSH; D009136.
DR MeSH; D016649.
KW KW-0209:Deafness.
KW KW-0912:Congenital muscular dystrophy.
//
ID Muscular dystrophy, congenital, Davignon-Chauveau type.
AC DI-04800
AR MDCDC.
DE An autosomal recessive, severe congenital muscular dystrophy
DE characterized by neonatal onset of muscle weakness predominantly
DE involving axial muscles, life-threatening respiratory failure, skin
DE abnormalities and joint hyperlaxity without contractures. Muscle
DE biopsies show multi-minicores, caps and dystrophic lesions.
DR MIM; 617066; phenotype.
DR MedGen; CN237803.
DR MeSH; D009136.
KW KW-0912:Congenital muscular dystrophy.
//
ID Muscular dystrophy, congenital, megaconial type.
AC DI-05503
AR MDCMC.
DE An autosomal recessive, congenital muscular dystrophy characterized by
DE early-onset muscle wasting, intellectual disability, and dilated
DE cardiomyopathy in half of affected individuals. Some patients may die
DE from cardiomyopathy in the first or second decade of life. Muscle
DE biopsy shows peculiar enlarged mitochondria that are prevalent toward
DE the periphery of the fibers but are sparse in the center.
SY Muscular dystrophy, congenital, with mitochondrial structural abnormalities.
DR MIM; 602541; phenotype.
DR MedGen; C1865233.
DR MeSH; D009136.
KW KW-0912:Congenital muscular dystrophy.
//
ID Muscular dystrophy, congenital, with cataracts and intellectual disability.
AC DI-04992
AR MDCCAID.
DE An autosomal recessive form of muscular dystrophy with onset in early
DE childhood and characterized by progressive muscle weakness. Almost all
DE patients also have early-onset cataracts and intellectual disability
DE of varying severity. Some patients have seizures.
DR MIM; 617404; phenotype.
DR MedGen; CN241833.
DR MeSH; D002386.
DR MeSH; D008607.
DR MeSH; D009136.
KW KW-0898:Cataract.
KW KW-0912:Congenital muscular dystrophy.
KW KW-0991:Intellectual disability.
//
ID Muscular dystrophy, limb-girdle, autosomal dominant 1.
AC DI-03434
AR LGMDD1.
DE An autosomal dominant myopathy characterized by adult onset of
DE proximal muscle weakness, beginning in the hip girdle region and later
DE progressing to the shoulder girdle region.
SY LGMD1D.
SY LGMD1E.
SY Limb-girdle muscular dystrophy 1E.
SY Limb-girdle muscular dystrophy type 1D.
SY Muscular dystrophy, limb-girdle, type 1D.
SY Muscular dystrophy, limb-girdle, type 1E.
DR MIM; 603511; phenotype.
DR MedGen; C3148763.
DR MeSH; D049288.
KW KW-0947:Limb-girdle muscular dystrophy.
//
ID Muscular dystrophy, limb-girdle, autosomal dominant 2.
AC DI-04143
AR LGMDD2.
DE An autosomal dominant myopathy characterized by proximal muscle
DE weakness primarily affecting the lower limbs, but also affecting the
DE upper limbs in most patients. Affected individuals also have distal
DE muscle weakness of the hands and lower leg muscles. The disease has
DE generally a benign clinical course but some individuals with childhood
DE or juvenile onset manifest severe widespread myopathy, leading to
DE wheelchair dependency and respiratory insufficiency. Muscle biopsy
DE shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and
DE filamentous inclusions.
SY LGMD1F.
SY Limb-girdle muscular dystrophy 1F.
SY Muscular dystrophy, limb-girdle, type 1F.
DR MIM; 608423; phenotype.
DR MedGen; C1842062.
DR MeSH; D049288.
KW KW-0947:Limb-girdle muscular dystrophy.
//
ID Muscular dystrophy, limb-girdle, autosomal dominant 3.
AC DI-04211
AR LGMDD3.
DE An autosomal dominant degenerative myopathy characterized by slowly
DE progressive wasting and weakness of the proximal muscles of arms and
DE legs around the pelvic or shoulder girdles, elevated creatine kinase
DE levels and dystrophic features on muscle biopsy. LGMDD3 is
DE characterized by a mild late-onset and is associated with progressive
DE fingers and toes flexion limitation. Affected individuals may also
DE develop cataracts before age 50.
SY LGMD1G.
SY Limb-girdle muscular dystrophy 1G.
SY Muscular dystrophy, limb-girdle, type 1G.
DR MIM; 609115; phenotype.
DR MedGen; C1836765.
DR MeSH; D049288.
KW KW-0947:Limb-girdle muscular dystrophy.
//
ID Muscular dystrophy, limb-girdle, autosomal dominant 4.
AC DI-05338
AR LGMDD4.
DE A form of autosomal dominant limb-girdle muscular dystrophy, a
DE myopathy characterized by proximal and/or distal muscle weakness and
DE atrophy. The age at onset is variable and can range from the first to
DE the sixth decade, although later onset is less common. LGMDD4 is
DE characterized by onset of proximal muscle weakness in young adulthood,
DE gait difficulties, increased serum creatine kinase, myalgia, and back
DE pain. Some patients may have upper limb involvement. Disease severity
DE and expressivity are highly variable.
SY LGMD1I.
SY Muscular dystrophy, limb-girdle, type 1I.
DR MIM; 618129; phenotype.
DR MedGen; CN253839.
DR MeSH; D049288.
KW KW-0947:Limb-girdle muscular dystrophy.
//
ID Muscular dystrophy, limb-girdle, autosomal recessive 1.
AC DI-00658
AR LGMDR1.
DE An autosomal recessive degenerative myopathy characterized by
DE progressive symmetrical atrophy and weakness of the proximal limb
DE muscles and elevated serum creatine kinase. The symptoms usually begin
DE during the first two decades of life, and the disease gradually
DE worsens, often resulting in loss of walking ability 10 or 20 years
DE after onset.
SY Calpainopathy.
SY Leyden-Moebious muscular dystrophy.
SY LGMD2.
SY LGMD2A.
SY Limb-girdle muscular dystrophy 2A.
SY Muscular dystrophy, limb-girdle, type 2.
SY Muscular dystrophy, limb-girdle, type 2A.
SY Muscular dystrophy, pelvofemoral.
DR MIM; 253600; phenotype.
DR MedGen; C1299884.
DR MedGen; C1869123.
DR MeSH; D049288.
KW KW-0947:Limb-girdle muscular dystrophy.
//
ID Muscular dystrophy, limb-girdle, autosomal recessive 10.
AC DI-00667
AR LGMDR10.
DE An autosomal recessive degenerative myopathy characterized by
DE progressive weakness of the pelvic and shoulder girdle muscles. Severe
DE disability is observed within 20 years of onset.
SY LGMD2J.
SY Limb-girdle muscular dystrophy 2J.
SY Muscular dystrophy, limb-girdle, type 2J.
DR MIM; 608807; phenotype.
DR MedGen; C1837342.
DR MeSH; D049288.
KW KW-0947:Limb-girdle muscular dystrophy.
//
ID Muscular dystrophy, limb-girdle, autosomal recessive 12.
AC DI-02703
AR LGMDR12.
DE An autosomal recessive degenerative myopathy characterized by proximal
DE weakness, weakness of the hip and shoulder girdles and prominent
DE asymmetrical quadriceps femoris and biceps brachii atrophy.
SY LGMD2L.
SY Limb-girdle muscular dystrophy 2L.
SY Muscular dystrophy, limb-girdle, type 2L.
DR MIM; 611307; phenotype.
DR MedGen; C1969785.
DR MeSH; D049288.
KW KW-0947:Limb-girdle muscular dystrophy.
//
ID Muscular dystrophy, limb-girdle, autosomal recessive 17.
AC DI-03000
AR LGMDR17.
DE A form of limb-girdle muscular dystrophy characterized by early
DE childhood onset of proximal muscle weakness. Limb-girdle muscular
DE dystrophies are characterized by proximal weakness, weakness of the
DE hip and shoulder girdles and prominent asymmetrical quadriceps femoris
DE and biceps brachii atrophy.
SY LGMD2Q.
SY Limb-girdle muscular dystrophy 2Q.
SY Muscular dystrophy, limb-girdle, type 2Q.
DR MIM; 613723; phenotype.
DR MedGen; C3150989.
DR MeSH; D049288.
KW KW-0947:Limb-girdle muscular dystrophy.
//
ID Muscular dystrophy, limb-girdle, autosomal recessive 18.
AC DI-03850
AR LGMDR18.
DE A form of limb-girdle muscular dystrophy characterized by proximal
DE muscle weakness with childhood onset, resulting in gait abnormalities
DE and scapular winging. Serum creatine kinase is increased. A subset of
DE patients may show a hyperkinetic movement disorder with chorea,
DE ataxia, or dystonia and global developmental delay.
SY LGMD2S.
SY Limb-girdle muscular dystrophy 2S.
SY Muscular dystrophy, limb-girdle, type 2S.
DR MIM; 615356; phenotype.
DR MedGen; C3809236.
DR MedGen; CN178407.
DR MeSH; D049288.
KW KW-0947:Limb-girdle muscular dystrophy.
//
ID Muscular dystrophy, limb-girdle, autosomal recessive 2.
AC DI-00659
AR LGMDR2.
DE An autosomal recessive degenerative myopathy characterized by weakness
DE and atrophy starting in the proximal pelvifemoral muscles, with onset
DE in the late teens or later, massive elevation of serum creatine kinase
DE levels and slow progression. Scapular muscle involvement is minor and
DE not present at onset. Upper limb girdle involvement follows some years
DE after the onset in lower limbs.
SY LGMD2B.
SY LGMD3.
SY Limb-girdle muscular dystrophy 2B.
SY Muscular dystrophy, limb-girdle, type 2B.
SY Muscular dystrophy, limb-girdle, type 3.
DR MIM; 253601; phenotype.
DR MedGen; C1850889.
DR MeSH; D049288.
KW KW-0947:Limb-girdle muscular dystrophy.
//
ID Muscular dystrophy, limb-girdle, autosomal recessive 21.
AC DI-04915
AR LGMDR21.
DE A form of autosomal recessive limb-girdle muscular dystrophy, a
DE degenerative myopathy characterized by slowly progressive wasting and
DE weakness of the proximal muscles of arms and legs around the pelvic or
DE shoulder girdles, elevated creatine kinase levels and dystrophic
DE features on muscle biopsy. LGMDR21 is characterized by young-adult
DE onset.
SY LGMD2Z.
SY Limb-girdle muscular dystrophy 2Z.
SY Muscular dystrophy, limb-girdle, type 2Z.
DR MIM; 617232; phenotype.
DR MedGen; CN239490.
DR MeSH; D049288.
KW KW-0947:Limb-girdle muscular dystrophy.
//
ID Muscular dystrophy, limb-girdle, autosomal recessive 23.
AC DI-05343
AR LGMDR23.
DE A form of autosomal recessive limb-girdle muscular dystrophy, a
DE myopathy characterized by proximal and/or distal muscle weakness and
DE atrophy. The age at onset is variable and can range from the first to
DE the sixth decade, although later onset is less common. LGMDR23 is
DE characterized by slowly progressive proximal muscle weakness primarily
DE affecting the lower limbs, increased serum creatine kinase, dystrophic
DE features, gait difficulties, and white matter abnormalities on brain
DE imaging. Age at onset generally ranges from childhood to mid-
DE adulthood. Some patients may have additional neurologic features,
DE including executive deficits, seizures, and peripheral neuropathy.
DR MIM; 618138; phenotype.
DR MedGen; CN257926.
DR MeSH; D049288.
KW KW-0947:Limb-girdle muscular dystrophy.
//
ID Muscular dystrophy, limb-girdle, autosomal recessive 25.
AC DI-04650
AR LGMDR25.
DE An autosomal recessive muscular disorder characterized by slowly
DE progressive onset of proximal lower limb weakness in adulthood,
DE syncopal episodes, and markedly increased serum creatine kinase, which
DE can increase further after strenuous exercise.
SY Cardiac arrhythmia with increased serum creatine kinase.
SY CARICK.
SY LGMD2X.
SY Limb-girdle muscular dystrophy 2X.
SY Muscular dystrophy, limb-girdle, type 2X.
DR MIM; 616812; phenotype.
DR MedGen; CN235209.
DR MeSH; D049288.
KW KW-0947:Limb-girdle muscular dystrophy.
//
ID Muscular dystrophy, limb-girdle, autosomal recessive 26.
AC DI-05816
AR LGMDR26.
DE An autosomal recessive muscular disorder characterized by adult onset
DE of weakness and atrophy of proximal limb muscles, elevated serum
DE creatine kinase levels, and dystrophic findings on muscle biopsy.
DE There is no cardiac or respiratory involvement.
DR MIM; 618848; phenotype.
DR MedGen; CN280722.
DR MeSH; D049288.
KW KW-0947:Limb-girdle muscular dystrophy.
//
ID Muscular dystrophy, limb-girdle, autosomal recessive 27.
AC DI-06247
AR LGMDR27.
DE An autosomal recessive muscular disorder characterized by progressive
DE muscle weakness most prominent in the proximal lower limb and axial
DE muscles, and resulting in walking difficulty or loss of ambulation.
DE Additional more variable features include neck muscle weakness,
DE scoliosis, and joint contractures. Some affected individuals manifest
DE impaired intellectual development or speech delay, cardiomyopathy, and
DE cardiac arrhythmia. Muscle biopsy shows non-specific dystrophic
DE changes.
DR MIM; 619566; phenotype.
DR MedGen; CN301075.
DR MeSH; D049288.
KW KW-0947:Limb-girdle muscular dystrophy.
//
ID Muscular dystrophy, limb-girdle, autosomal recessive 3.
AC DI-00661
AR LGMDR3.
DE An autosomal recessive degenerative myopathy characterized by
DE progressive muscle wasting from early childhood with loss of
DE independent ambulation by teenage years. Muscle biopsy shows necrosis,
DE decreased immunostaining for alpha sarcoglycan, and adhalin
DE deficiency.
SY Adhalinopathy primary.
SY DMDA2.
SY Duchenne-like muscular dystrophy autosomal recessive type 2.
SY LGMD2D.
SY Limb-girdle muscular dystrophy 2D.
SY Muscular dystrophy, limb-girdle, type 2D.
SY SCARMD.
SY Severe childhood autosomal recessive muscular dystrophy.
DR MIM; 608099; phenotype.
DR MedGen; C1842550.
DR MeSH; D049288.
KW KW-0947:Limb-girdle muscular dystrophy.
//
ID Muscular dystrophy, limb-girdle, autosomal recessive 4.
AC DI-00662
AR LGMDR4.
DE An autosomal recessive degenerative myopathy characterized by pelvic
DE and shoulder muscle wasting, onset usually in childhood and variable
DE progression rate.
SY LGMD2E.
SY Limb-girdle muscular dystrophy 2E.
SY Muscular dystrophy, limb-girdle, type 2E.
DR MIM; 604286; phenotype.
DR MedGen; C1858593.
DR MeSH; D049288.
KW KW-0947:Limb-girdle muscular dystrophy.
//
ID Muscular dystrophy, limb-girdle, autosomal recessive 5.
AC DI-00660
AR LGMDR5.
DE An autosomal recessive degenerative myopathy characterized by rapidly
DE progressive muscle wasting from early childhood with loss of
DE independent ambulation around age 12 years, dystrophic pattern on
DE muscle biopsy, absence of gamma-sarcoglycan and normal dystrophin
DE immunostaining.
SY DMDA1.
SY Duchenne-like muscular dystrophy autosomal recessive type 1.
SY LGMD2C.
SY Limb-girdle muscular dystrophy 2C.
SY Muscular dystrophy, limb-girdle, type 2C.
SY Sarcoglycan gamma deficiency.
SY SCARMD.
SY Severe childhood autosomal recessive muscular dystrophy North African type.
DR MIM; 253700; phenotype.
DR MedGen; C0410173.
DR MeSH; D049288.
KW KW-0947:Limb-girdle muscular dystrophy.
//
ID Muscular dystrophy, limb-girdle, autosomal recessive 6.
AC DI-00663
AR LGMDR6.
DE An autosomal recessive degenerative myopathy initially affecting the
DE proximal limb girdle musculature. Muscle from patients shows a
DE complete loss of delta-sarcoglycan as well as of the others components
DE of the sarcoglycan complex.
SY LGMD2F.
SY Limb-girdle muscular dystrophy 2F.
SY Muscular dystrophy, limb-girdle, type 2F.
DR MIM; 601287; phenotype.
DR MedGen; C1832525.
DR MeSH; D049288.
KW KW-0947:Limb-girdle muscular dystrophy.
//
ID Muscular dystrophy, limb-girdle, autosomal recessive 7.
AC DI-00664
AR LGMDR7.
DE An autosomal recessive degenerative myopathy characterized by proximal
DE and distal muscle weakness and atrophy in the limbs, dystrophic
DE changes on muscle biopsy, and absence of telethonin. Cardiac muscle is
DE involved in a subset of patients.
SY LGMD2G.
SY Limb-girdle muscular dystrophy 2G.
SY Muscular dystrophy, limb-girdle, type 2G.
DR MIM; 601954; phenotype.
DR MedGen; C1866008.
DR MeSH; D049288.
KW KW-0947:Limb-girdle muscular dystrophy.
//
ID Muscular dystrophy, limb-girdle, autosomal recessive 8.
AC DI-00665
AR LGMDR8.
DE An autosomal recessive degenerative myopathy characterized by pelvic
DE girdle, shoulder girdle and quadriceps muscle weakness. Clinical
DE phenotype and severity are highly variable. Disease progression is
DE slow and most patients remain ambulatory into the sixth decade of
DE life.
SY LGMD2H.
SY Limb-girdle muscular dystrophy 2H.
SY Muscular dystrophy, limb-girdle, type 2H.
SY Muscular dystrophy Hutterite type.
SY Sarcotubular myopathy.
DR MIM; 254110; phenotype.
DR MedGen; C0270968.
DR MeSH; D049288.
KW KW-0947:Limb-girdle muscular dystrophy.
//
ID Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1.
AC DI-01132
AR MDDGA1.
DE An autosomal recessive disorder characterized by congenital muscular
DE dystrophy associated with cobblestone lissencephaly and other brain
DE anomalies, eye malformations, profound intellectual disability, and
DE death usually in the first years of life. Included diseases are the
DE more severe Walker-Warburg syndrome and the slightly less severe
DE muscle-eye-brain disease.
SY Cerebroocular dysgenesis.
SY Cerebroocular dysplasia-muscular dystrophy syndrome.
SY COD.
SY COD-MD syndrome.
SY HARD +/- E syndrome.
SY HARD syndrome.
SY Hydrocephalus-agyria-retinal dysplasia.
SY MEB.
SY Muscle-eye-brain disease.
SY Muscle-eye-brain disease POMT1-related.
SY Muscular dystrophy due to defective glycosylation of dystroglycan 1A.
SY Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.
SY Walker-Warburg syndrome.
SY Walker-Warburg syndrome POMT1-related.
SY Warburg syndrome.
SY WWS.
DR MIM; 236670; phenotype.
DR MedGen; C0265221.
DR MeSH; D058494.
KW KW-0451:Lissencephaly.
KW KW-0912:Congenital muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A10.
AC DI-03684
AR MDDGA10.
DE An autosomal recessive disorder characterized by congenital muscular
DE dystrophy associated with cobblestone lissencephaly and other brain
DE anomalies, eye malformations, profound intellectual disability, and
DE death usually in the first years of life. Included diseases are the
DE more severe Walker-Warburg syndrome and the slightly less severe
DE muscle-eye-brain disease.
SY Muscle-eye-brain disease TMEM5-related.
SY Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10.
SY Walker-Warburg syndrome TMEM5-related.
DR MIM; 615041; phenotype.
DR MedGen; C3554381.
DR MedGen; CN164735.
DR MeSH; D058494.
KW KW-0451:Lissencephaly.
KW KW-0912:Congenital muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11.
AC DI-03747
AR MDDGA11.
DE An autosomal recessive disorder characterized by congenital muscular
DE dystrophy associated with cobblestone lissencephaly and other brain
DE anomalies, eye malformations, profound intellectual disability, and
DE death usually in the first years of life. Included diseases are the
DE more severe Walker-Warburg syndrome and the slightly less severe
DE muscle-eye-brain disease.
SY Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11.
SY Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related.
DR MIM; 615181; phenotype.
DR MedGen; C3554638.
DR MedGen; CN168979.
DR MeSH; D058494.
KW KW-0451:Lissencephaly.
KW KW-0912:Congenital muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12.
AC DI-03721
AR MDDGA12.
DE An autosomal recessive disorder characterized by congenital muscular
DE dystrophy associated with cobblestone lissencephaly and other brain
DE anomalies, eye malformations, profound intellectual disability, and
DE death usually in the first years of life. Included diseases are the
DE more severe Walker-Warburg syndrome and the slightly less severe
DE muscle-eye-brain disease.
SY Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12.
SY Walker-Warburg syndrome or muscle-eye-brain disease POMK-related.
DR MIM; 615249; phenotype.
DR MedGen; C3808964.
DR MedGen; CN169987.
DR MeSH; D058494.
KW KW-0451:Lissencephaly.
KW KW-0912:Congenital muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13.
AC DI-03785
AR MDDGA13.
DE An autosomal recessive disorder characterized by congenital muscular
DE dystrophy associated with cobblestone lissencephaly and other brain
DE anomalies, eye malformations, profound intellectual disability, and
DE death usually in the first years of life. Included diseases are the
DE more severe Walker-Warburg syndrome and the slightly less severe
DE muscle-eye-brain disease.
SY Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13.
SY Walker-Warburg syndrome or muscle-eye-brain disease B3GNT1-related.
DR MIM; 615287; phenotype.
DR MedGen; C3809042.
DR MedGen; CN177021.
DR MeSH; D058494.
KW KW-0451:Lissencephaly.
KW KW-0912:Congenital muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14.
AC DI-03846
AR MDDGA14.
DE An autosomal recessive disorder characterized by congenital muscular
DE dystrophy associated with brain anomalies, eye malformations, and
DE profound intellectual disability. The disorder includes a severe form
DE designated as Walker-Warburg syndrome and a less severe phenotype
DE known as muscle-eye-brain disease. MDDGA14 features include increased
DE muscle tone, microcephaly, cleft palate, feeding difficulties, severe
DE muscle weakness, sensorineural hearing loss, cerebellar hypoplasia,
DE ataxia, and retinal dysfunction.
SY Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14.
SY Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related.
DR MIM; 615350; phenotype.
DR MedGen; C3809216.
DR MedGen; CN178538.
DR MeSH; D058494.
KW KW-0912:Congenital muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2.
AC DI-02954
AR MDDGA2.
DE An autosomal recessive disorder characterized by congenital muscular
DE dystrophy associated with cobblestone lissencephaly and other brain
DE anomalies, eye malformations, profound intellectual disability, and
DE death usually in the first years of life. Included diseases are the
DE more severe Walker-Warburg syndrome and the slightly less severe
DE muscle-eye-brain disease.
SY Muscle-eye-brain disease POMT2-related.
SY Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2.
SY Walker-Warburg syndrome POMT2-related.
DR MIM; 613150; phenotype.
DR MedGen; C3150411.
DR MeSH; D058494.
KW KW-0451:Lissencephaly.
KW KW-0912:Congenital muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3.
AC DI-00792
AR MDDGA3.
DE An autosomal recessive disorder characterized by congenital muscular
DE dystrophy, ocular abnormalities, cobblestone lissencephaly, and
DE cerebellar and pontine hypoplasia. Patients present severe congenital
DE myopia, congenital glaucoma, pallor of the optic disks, retinal
DE hypoplasia, intellectual disability, hydrocephalus, abnormal
DE electroencephalograms, generalized muscle weakness and myoclonic
DE jerks. Included diseases are the more severe Walker-Warburg syndrome
DE and the slightly less severe muscle-eye-brain disease.
SY Muscle-eye-brain disease POMGNT1-related.
SY Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3.
SY Walker-Warburg syndrome POMGNT1-related.
DR MIM; 253280; phenotype.
DR MedGen; C0457133.
DR MedGen; C3151519.
DR MeSH; D058494.
KW KW-0451:Lissencephaly.
KW KW-0912:Congenital muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4.
AC DI-00364
AR MDDGA4.
DE An autosomal recessive disorder characterized by congenital muscular
DE dystrophy associated with cobblestone lissencephaly and other brain
DE anomalies, eye malformations, profound intellectual disability, and
DE death usually in the first years of life. Included diseases are the
DE more severe Walker-Warburg syndrome and the slightly less severe
DE muscle-eye-brain disease.
SY Cerebromuscular dystrophy Fukuyama type.
SY Congenital muscular dystrophy Fukuyama type.
SY FCMD.
SY Micropolygyria with muscular dystrophy.
SY Muscle-eye-brain disease FKTN-related.
SY Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4.
SY Walker-Warburg syndrome FKTN-related.
DR MIM; 253800; phenotype.
DR MedGen; C0410174.
DR MeSH; D058494.
KW KW-0451:Lissencephaly.
KW KW-0912:Congenital muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5.
AC DI-02953
AR MDDGA5.
DE An autosomal recessive disorder characterized by congenital muscular
DE dystrophy associated with cobblestone lissencephaly and other brain
DE anomalies, eye malformations, profound intellectual disability, and
DE death usually in the first years of life. Included diseases are the
DE more severe Walker-Warburg syndrome and the slightly less severe
DE muscle-eye-brain disease.
SY Muscle-eye-brain disease FKRP-related.
SY Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5.
SY Walker-Warburg syndrome FKRP-related.
DR MIM; 613153; phenotype.
DR MedGen; C3150413.
DR MeSH; D058494.
KW KW-0451:Lissencephaly.
KW KW-0912:Congenital muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6.
AC DI-02962
AR MDDGA6.
DE An autosomal recessive disorder characterized by congenital muscular
DE dystrophy associated with cobblestone lissencephaly and other brain
DE anomalies, eye malformations, profound intellectual disability, and
DE death usually in the first years of life. Included diseases are the
DE more severe Walker-Warburg syndrome and the slightly less severe
DE muscle-eye-brain disease.
SY Muscle-eye-brain disease LARGE-related.
SY Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6.
SY Walker-Warburg syndrome LARGE-related.
DR MIM; 613154; phenotype.
DR MedGen; C3150414.
DR MeSH; D058494.
KW KW-0451:Lissencephaly.
KW KW-0912:Congenital muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7.
AC DI-03441
AR MDDGA7.
DE An autosomal recessive disorder characterized by congenital muscular
DE dystrophy associated with cobblestone lissencephaly and other brain
DE anomalies, eye malformations, profound intellectual disability, and
DE death usually in the first years of life. Included diseases are the
DE more severe Walker-Warburg syndrome and the slightly less severe
DE muscle-eye-brain disease.
SY Muscle-eye-brain disease ISPD-related.
SY Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7.
SY Walker-Warburg syndrome ISPD-related.
DR MIM; 614643; phenotype.
DR MedGen; C3553330.
DR MedGen; CN124931.
DR MeSH; D058494.
KW KW-0451:Lissencephaly.
KW KW-0912:Congenital muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A8.
AC DI-03536
AR MDDGA8.
DE An autosomal recessive disorder characterized by congenital muscular
DE dystrophy associated with cobblestone lissencephaly and other brain
DE anomalies, eye malformations, profound intellectual disability, and
DE death usually in the first years of life. Included diseases are the
DE more severe Walker-Warburg syndrome and the slightly less severe
DE muscle-eye-brain disease.
SY Muscle-eye-brain disease GTDC2-related.
SY Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8.
SY Walker-Warburg syndrome GTDC2-related.
DR MIM; 614830; phenotype.
DR MedGen; C3553813.
DR MedGen; CN143953.
DR MeSH; D058494.
KW KW-0451:Lissencephaly.
KW KW-0912:Congenital muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A9.
AC DI-04533
AR MDDGA9.
DE An autosomal recessive disorder characterized by congenital muscular
DE dystrophy associated with cobblestone lissencephaly and other brain
DE anomalies, eye malformations, profound intellectual disability, and
DE death usually in the first years of life. Included diseases are the
DE more severe Walker-Warburg syndrome and the slightly less severe
DE muscle-eye-brain disease.
SY Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9.
SY Walker-Warburg syndrome or muscle-eye brain disease, DAG1-related.
DR MIM; 616538; phenotype.
DR MedGen; CN232402.
DR MeSH; D058494.
KW KW-0451:Lissencephaly.
KW KW-0912:Congenital muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1.
AC DI-02963
AR MDDGB1.
DE An autosomal recessive disorder characterized by congenital muscular
DE dystrophy associated with intellectual disability and mild structural
DE brain abnormalities.
SY Muscular dystrophy congenital POMT1-related.
DR MIM; 613155; phenotype.
DR MedGen; C3150415.
DR MeSH; D009136.
KW KW-0912:Congenital muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B14.
AC DI-03847
AR MDDGB14.
DE A congenital muscular dystrophy characterized by severe muscle
DE weakness apparent in infancy and intellectual disability. Some
DE patients may have additional features, such as microcephaly, cardiac
DE dysfunction, seizures, or cerebellar hypoplasia.
SY Congenital muscular dystrophy GMPPB-related.
DR MIM; 615351; phenotype.
DR MedGen; C3809221.
DR MedGen; CN178539.
DR MeSH; D009136.
KW KW-0912:Congenital muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B15.
AC DI-05900
AR MDDGB15.
DE An autosomal recessive, congenital muscular disorder characterized by
DE hyperCKemia, myopathic features observed on muscle biopsy,
DE developmental delay, mildly impaired intellectual development with
DE learning difficulties, epilepsy, and mild white matter abnormalities.
SY Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15.
DR MIM; 618992; phenotype.
DR MedGen; CN283339.
DR MeSH; D009136.
KW KW-0912:Congenital muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2.
AC DI-02955
AR MDDGB2.
DE An autosomal recessive disorder characterized by congenital muscular
DE dystrophy associated with intellectual disability and mild structural
DE brain abnormalities.
SY Muscular dystrophy congenital POMT2-related.
DR MIM; 613156; phenotype.
DR MedGen; C3150416.
DR MeSH; D009136.
KW KW-0912:Congenital muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B3.
AC DI-02961
AR MDDGB3.
DE An autosomal recessive disorder characterized by congenital muscular
DE dystrophy associated with intellectual disability and mild structural
DE brain abnormalities. Clinical features include intellectual
DE disability, white matter changes, cerebellar cysts, pontine
DE hypoplasia, myopia, optic atrophy, decreased alpha-dystroglycan on
DE muscle biopsy and increased serum creatine kinase.
SY Muscular dystrophy congenital POMGNT1-related.
DR MIM; 613151; phenotype.
DR MedGen; C3150412.
DR MeSH; D009136.
KW KW-0912:Congenital muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B6.
AC DI-01410
AR MDDGB6.
DE A congenital muscular dystrophy associated with profound intellectual
DE disability, white matter changes and structural brain abnormalities.
DE Skeletal muscle biopsies show reduced immunolabeling of alpha-
DE dystroglycan.
SY Congenital muscular dystrophy type 1D.
SY MDC1D.
SY Muscular dystrophy LARGE-related.
DR MIM; 608840; phenotype.
DR MedGen; C1837229.
DR MeSH; D009136.
KW KW-0912:Congenital muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5.
AC DI-01409
AR MDDGB5.
DE A congenital muscular dystrophy characterized by a severe phenotype
DE with inability to walk, muscle hypertrophy, marked elevation of serum
DE creatine kinase, secondary deficiency of laminin alpha2, and a marked
DE reduction in alpha-dystroglycan expression. Only a subset of affected
DE individuals have brain involvements.
SY MDC1C.
SY Muscular dystrophy congenital type 1C.
SY Muscular dystrophy FKRP-related.
DR MIM; 606612; phenotype.
DR MedGen; C1847759.
DR MedGen; CN068805.
DR MeSH; D009136.
KW KW-0912:Congenital muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Muscular dystrophy-dystroglycanopathy congenital without impaired intellectual development B4.
AC DI-02728
AR MDDGB4.
DE An autosomal recessive disorder characterized by congenital muscular
DE dystrophy and evidence of dystroglycanopathy. Features included
DE increased serum creatine kinase, generalized weakness, mild white
DE matter changes on brain MRI, and absence of intellectual disability.
SY Muscular dystrophy congenital FKTN-related.
DR MIM; 613152; phenotype.
DR MedGen; C2751052.
DR MeSH; D009136.
KW KW-0912:Congenital muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Muscular dystrophy-dystroglycanopathy limb-girdle C1.
AC DI-00668
AR MDDGC1.
DE An autosomal recessive degenerative myopathy associated with mild
DE intellectual disability without any obvious structural brain
DE abnormality. An abnormal alpha-dystroglycan pattern in observed in the
DE muscle.
SY LGMD2K.
SY LGMDR11.
SY Limb-girdle muscular dystrophy type 2K.
SY Muscular dystrophy, limb-girdle, autosomal recessive 11.
SY Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1.
DR MIM; 609308; phenotype.
DR MedGen; C1836373.
DR MeSH; D049288.
KW KW-0947:Limb-girdle muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Muscular dystrophy-dystroglycanopathy limb-girdle C12.
AC DI-04274
AR MDDGC12.
DE An autosomal recessive limb-girdle congenital muscular dystrophy,
DE characterized by muscle weakness and delayed motor development in
DE association with cognitive impairment.
SY Muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related.
SY Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12.
DR MIM; 616094; phenotype.
DR MedGen; CN221288.
DR MeSH; D049288.
KW KW-0947:Limb-girdle muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Muscular dystrophy-dystroglycanopathy limb-girdle C14.
AC DI-03848
AR MDDGC14.
DE An autosomal recessive form of muscular dystrophy characterized by
DE mild proximal muscle weakness with onset in early childhood. Some
DE patients may have additional features, such as mild intellectual
DE disability or seizures.
SY LGMD2T.
SY LGMDR19.
SY Muscular dystrophy, limb-girdle, autosomal recessive 19.
SY Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14.
SY Muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related.
SY Muscular dystrophy limb-girdle type 2T.
DR MIM; 615352; phenotype.
DR MedGen; C3714932.
DR MedGen; CN178540.
DR MeSH; D049288.
KW KW-0947:Limb-girdle muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Muscular dystrophy-dystroglycanopathy limb-girdle C15.
AC DI-02496
AR MDDGC15.
DE An autosomal recessive muscular dystrophy associated with a disorder
DE of glycosylation resulting in under-glycosylated serum glycoproteins.
DE MDDGC15 patients have muscle weakness, increased serum creatine
DE kinase, dystrophic changes on muscle biopsy, and reduced O-
DE mannosylation of alpha-dystroglycan.
SY CDG1O.
SY CDGIo.
SY CDG Io.
SY CDG-Io.
SY Congenital disorder of glycosylation 1O.
SY Congenital disorder of glycosylation type Io.
SY Muscular dystrophy-dystroglycanopathy, limb-girdle, DPM3-related.
SY Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15.
DR MIM; 612937; phenotype.
DR MedGen; C2752007.
DR MeSH; D018981.
KW KW-0900:Congenital disorder of glycosylation.
KW KW-0912:Congenital muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Muscular dystrophy-dystroglycanopathy limb-girdle C2.
AC DI-02956
AR MDDGC2.
DE An autosomal recessive muscular dystrophy with onset after ambulation
DE is achieved. MDDGC2 is characterized by increased serum creatine
DE kinase and mild muscle weakness. Muscle biopsy shows dystrophic
DE changes, inflammatory changes, and severely decreased alpha-
DE dystroglycan. Cognition is normal.
SY LGMD2N.
SY LGMDR14.
SY Limb-girdle muscular dystrophy type 2N.
SY MDGD2C.
SY Muscular dystrophy, limb-girdle, autosomal recessive 14.
SY Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2.
SY Muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related.
DR MIM; 613158; phenotype.
DR MedGen; C3150418.
DR MeSH; D049288.
KW KW-0947:Limb-girdle muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Muscular dystrophy-dystroglycanopathy limb-girdle C3.
AC DI-02957
AR MDDGC3.
DE A rare form of limb-girdle muscular dystrophy with normal cognition.
DE Muscle biopsy shows dystrophic changes with variable staining for
DE glycosylated alpha-dystroglycan.
SY LGMDR15.
SY Muscular dystrophy, limb-girdle, autosomal recessive 15.
SY Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3.
SY Muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related.
DR MIM; 613157; phenotype.
DR MedGen; C3150417.
DR MeSH; D049288.
KW KW-0947:Limb-girdle muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Muscular dystrophy-dystroglycanopathy limb-girdle C4.
AC DI-00669
AR MDDGC4.
DE An autosomal recessive degenerative myopathy characterized by
DE progressive weakness of the pelvic and shoulder girdle muscles, and
DE elevated serum creatine kinase. MDDGC4 has no brain involvement and a
DE remarkable clinical response to corticosteroids.
SY LGMD2M.
SY LGMDR13.
SY Limb-girdle muscular dystrophy type 2M.
SY MDGD4C.
SY Muscular dystrophy, limb-girdle, autosomal recessive 13.
SY Muscular dystrophy due to defective glycosylation of dystroglycan 4C.
SY Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4.
DR MIM; 611588; phenotype.
DR MedGen; C1969040.
DR MeSH; D049288.
KW KW-0947:Limb-girdle muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Muscular dystrophy-dystroglycanopathy limb-girdle C5.
AC DI-00666
AR MDDGC5.
DE An autosomal recessive degenerative myopathy with age of onset ranging
DE from childhood to adult life, and variable severity. Clinical features
DE include proximal muscle weakness, waddling gait, calf hypertrophy,
DE cardiomyopathy and respiratory insufficiency. A reduction of alpha-
DE dystroglycan and laminin alpha-2 expression can be observed on
DE skeletal muscle biopsy from MDDGC5 patients.
SY LGMD2I.
SY LGMDR9.
SY Limb-girdle muscular dystrophy type 2I.
SY Muscular dystrophy, limb-girdle, autosomal recessive 9.
SY Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5.
SY Muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related.
DR MIM; 607155; phenotype.
DR MedGen; C1846672.
DR MeSH; D049288.
KW KW-0947:Limb-girdle muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Muscular dystrophy-dystroglycanopathy limb-girdle C7.
AC DI-04245
AR MDDGC7.
DE A form of muscular dystrophy resulting from defective glycosylation of
DE alpha-dystroglycan, and characterized by a limb-girdle phenotype with
DE muscular weakness apparent after ambulation is achieved. MDDGC7
DE individuals do not show epilepsy, intellectual disability, structural
DE eye/brain abnormalities, or white matter changes.
SY LGMD2U.
SY LGMDR20.
SY Muscular dystrophy, limb-girdle, autosomal recessive 20.
SY Muscular dystrophy, limb-girdle, type 2U.
SY Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7.
DR MIM; 616052; phenotype.
DR MedGen; CN220058.
DR MeSH; D049288.
KW KW-0947:Limb-girdle muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Muscular dystrophy-dystroglycanopathy limb-girdle C8.
AC DI-05342
AR MDDGC8.
DE An autosomal recessive muscular disease with onset in childhood,
DE characterized by limb-girdle muscular dystrophy and intellectual
DE disability without brain malformation. Disease severity is highly
DE variable and some patients may be clinically asymptomatic.
SY LGMDR24.
SY Muscular dystrophy, limb-girdle, autosomal recessive 24.
SY Muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related.
DR MIM; 618135; phenotype.
DR MedGen; CN253928.
DR MeSH; D049288.
KW KW-0947:Limb-girdle muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Muscular dystrophy-dystroglycanopathy limb-girdle C9.
AC DI-03074
AR MDDGC9.
DE An autosomal recessive muscular dystrophy showing onset in early
DE childhood, and associated with intellectual disability without
DE structural brain anomalies.
SY LGMD2P.
SY LGMDR16.
SY Muscular dystrophy, limb-girdle, autosomal recessive 16.
SY Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9.
SY Muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related.
SY Muscular dystrophy limb-girdle type 2P.
DR MIM; 613818; phenotype.
DR MedGen; C3151184.
DR MeSH; D049288.
KW KW-0947:Limb-girdle muscular dystrophy.
KW KW-1215:Dystroglycanopathy.
//
ID Myasthenic syndrome, congenital, 10.
AC DI-00494
AR CMS10.
DE A form of congenital myasthenic syndrome, a group of disorders
DE characterized by failure of neuromuscular transmission, including pre-
DE synaptic, synaptic, and post-synaptic disorders that are not of
DE autoimmune origin. Clinical features are easy fatigability and muscle
DE weakness affecting the axial and limb muscles (with hypotonia in
DE early-onset forms), the ocular muscles (leading to ptosis and
DE ophthalmoplegia), and the facial and bulbar musculature (affecting
DE sucking and swallowing, and leading to dysphonia). The symptoms
DE fluctuate and worsen with physical effort. CMS10 is an autosomal
DE recessive, post-synaptic form characterized by a typical 'limb girdle'
DE pattern of muscle weakness with small, simplified neuromuscular
DE junctions but normal acetylcholine receptor and acetylcholinesterase
DE function.
SY CMS1B.
SY CMS Ib.
SY Congenital myasthenic syndrome type 1b.
SY Congenital myasthenic syndrome type Ib.
SY LGM.
SY Myasthenia, limb-girdle, familial.
SY Myasthenic myopathy.
DR MIM; 254300; phenotype.
DR MedGen; C1850792.
DR MeSH; D020294.
KW KW-1004:Congenital myasthenic syndrome.
//
ID Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency.
AC DI-04401
AR CMS11.
DE A form of congenital myasthenic syndrome, a group of disorders
DE characterized by failure of neuromuscular transmission, including pre-
DE synaptic, synaptic, and post-synaptic disorders that are not of
DE autoimmune origin. Clinical features are easy fatigability and muscle
DE weakness affecting the axial and limb muscles (with hypotonia in
DE early-onset forms), the ocular muscles (leading to ptosis and
DE ophthalmoplegia), and the facial and bulbar musculature (affecting
DE sucking and swallowing, and leading to dysphonia). The symptoms
DE fluctuate and worsen with physical effort. CMS11 is an autosomal
DE recessive disorder of postsynaptic neuromuscular transmission, due to
DE deficiency of AChR at the endplate that results in low amplitude of
DE the miniature endplate potential and current.
SY CMS1E.
SY CMS Ie.
SY Myasthenic syndrome, congenital, Ie.
DR MIM; 616326; phenotype.
DR MedGen; C1837094.
DR MeSH; D020294.
KW KW-1004:Congenital myasthenic syndrome.
//
ID Myasthenic syndrome, congenital, 12.
AC DI-03084
AR CMS12.
DE A form of congenital myasthenic syndrome, a group of disorders
DE characterized by failure of neuromuscular transmission, including pre-
DE synaptic, synaptic, and post-synaptic disorders that are not of
DE autoimmune origin. Clinical features are easy fatigability and muscle
DE weakness. CMS12 is characterized by onset of proximal muscle weakness
DE in the first decade. Individuals with this condition have a
DE recognizable pattern of weakness of shoulder and pelvic girdle
DE muscles, and sparing of ocular or facial muscles. EMG classically
DE shows a decremental response to repeated nerve stimulation, a sign of
DE neuromuscular junction dysfunction. Affected individuals show a
DE favorable response to acetylcholinesterase (AChE) inhibitors.
SY CMSTA1.
SY Limb-girdle myasthenia with tubular aggregates.
SY Myasthenia, congenital, with tubular aggregates 1.
SY Myasthenic syndrome, congenital, with tubular aggregates, 1.
DR MIM; 610542; phenotype.
DR MedGen; C1864649.
DR MedGen; C3552335.
DR MeSH; D020294.
KW KW-1004:Congenital myasthenic syndrome.
//
ID Myasthenic syndrome, congenital, 13.
AC DI-03511
AR CMS13.
DE A form of congenital myasthenic syndrome, a group of disorders
DE characterized by failure of neuromuscular transmission, including pre-
DE synaptic, synaptic, and post-synaptic disorders that are not of
DE autoimmune origin. Clinical features are easy fatigability and muscle
DE weakness. CMS13 is characterized by muscle weakness mostly affecting
DE proximal limb muscles, minimal involvement of facial, ocular and
DE bulbar muscles, and tubular aggregates present on muscle biopsy.
DE Symptoms include difficulty walking and frequent falls. Younger
DE patients show hypotonia and poor head control. Neurophysiological
DE features indicate a disorder of neuromuscular transmission on
DE electromyography.
SY CMSTA2.
SY Myasthenic syndrome, congenital, with tubular aggregates, 2.
DR MIM; 614750; phenotype.
DR MedGen; C3553645.
DR MeSH; D020294.
KW KW-1004:Congenital myasthenic syndrome.
//
ID Myasthenic syndrome, congenital, 14.
AC DI-04340
AR CMS14.
DE A form of congenital myasthenic syndrome, a group of disorders
DE characterized by failure of neuromuscular transmission, including pre-
DE synaptic, synaptic, and post-synaptic disorders that are not of
DE autoimmune origin. Clinical features are easy fatigability and muscle
DE weakness. CMS14 is an autosomal recessive form characterized by onset
DE of limb-girdle muscle weakness in early childhood. The disorder is
DE slowly progressive, and some patients may become wheelchair-bound.
SY CMSTA3.
SY Myasthenic syndrome, congenital, 14, with tubular aggregates.
SY Myasthenic syndrome, congenital, with tubular aggregates, 3.
DR MIM; 616228; phenotype.
DR MedGen; CN226296.
DR MeSH; D020294.
KW KW-1004:Congenital myasthenic syndrome.
//
ID Myasthenic syndrome, congenital, 15.
AC DI-04339
AR CMS15.
DE A form of congenital myasthenic syndrome, a group of disorders
DE characterized by failure of neuromuscular transmission, including pre-
DE synaptic, synaptic, and post-synaptic disorders that are not of
DE autoimmune origin. Clinical features are easy fatigability and muscle
DE weakness.
SY CMSWTA.
SY Myasthenic syndrome, congenital, 15, without tubular aggregates.
SY Myasthenic syndrome, congenital, without tubular aggregates.
DR MIM; 616227; phenotype.
DR MedGen; CN226294.
DR MeSH; D020294.
KW KW-1004:Congenital myasthenic syndrome.
//
ID Myasthenic syndrome, congenital, 16.
AC DI-00365
AR CMS16.
DE A form of congenital myasthenic syndrome, a group of disorders
DE characterized by failure of neuromuscular transmission, including pre-
DE synaptic, synaptic, and post-synaptic disorders that are not of
DE autoimmune origin. Clinical features are easy fatigability and muscle
DE weakness. CMS16 is characterized by fatigable generalized weakness and
DE recurrent attacks of respiratory and bulbar paralysis since birth. The
DE fatigable weakness involves lid-elevator, external ocular, facial,
DE limb and truncal muscles and an decremental response of the compound
DE muscle action potential on repetitive stimulation.
SY Congenital myasthenic syndrome due to mutation in SCN4A.
SY Congenital myasthenic syndrome SCN4A-related.
SY Myasthenic syndrome, congenital, acetazolamide-responsive.
DR MIM; 614198; phenotype.
DR MedGen; C3280112.
DR MeSH; D020294.
KW KW-1004:Congenital myasthenic syndrome.
//
ID Myasthenic syndrome, congenital, 17.
AC DI-04402
AR CMS17.
DE A form of congenital myasthenic syndrome, a group of disorders
DE characterized by failure of neuromuscular transmission, including pre-
DE synaptic, synaptic, and post-synaptic disorders that are not of
DE autoimmune origin. Clinical features are easy fatigability and muscle
DE weakness affecting the axial and limb muscles (with hypotonia in
DE early-onset forms), the ocular muscles (leading to ptosis and
DE ophthalmoplegia), and the facial and bulbar musculature (affecting
DE sucking and swallowing, and leading to dysphonia). The symptoms
DE fluctuate and worsen with physical effort.
DR MIM; 616304; phenotype.
DR MedGen; CN229746.
DR MeSH; D020294.
KW KW-1004:Congenital myasthenic syndrome.
//
ID Myasthenic syndrome, congenital, 18.
AC DI-04403
AR CMS18.
DE A form of congenital myasthenic syndrome, a group of disorders
DE characterized by failure of neuromuscular transmission, including pre-
DE synaptic, synaptic, and post-synaptic disorders that are not of
DE autoimmune origin. Clinical features are easy fatigability and muscle
DE weakness affecting the axial and limb muscles (with hypotonia in
DE early-onset forms), the ocular muscles (leading to ptosis and
DE ophthalmoplegia), and the facial and bulbar musculature (affecting
DE sucking and swallowing, and leading to dysphonia). The symptoms
DE fluctuate and worsen with physical effort. CMS18 is an autosomal
DE dominant presynaptic disorder clinically characterized by early-onset
DE muscle weakness and easy fatigability associated with delayed
DE psychomotor development and ataxia.
SY Myasthenic syndrome, congenital, 18 with intellectual disability and ataxia.
DR MIM; 616330; phenotype.
DR MedGen; CN229755.
DR MeSH; D020294.
KW KW-0991:Intellectual disability.
KW KW-1004:Congenital myasthenic syndrome.
//
ID Myasthenic syndrome, congenital, 19.
AC DI-04604
AR CMS19.
DE A form of congenital myasthenic syndrome, a group of disorders
DE characterized by failure of neuromuscular transmission, including pre-
DE synaptic, synaptic, and post-synaptic disorders that are not of
DE autoimmune origin. Clinical features are easy fatigability and muscle
DE weakness affecting the axial and limb muscles (with hypotonia in
DE early-onset forms), the ocular muscles (leading to ptosis and
DE ophthalmoplegia), and the facial and bulbar musculature (affecting
DE sucking and swallowing, and leading to dysphonia). The symptoms
DE fluctuate and worsen with physical effort.
DR MIM; 616720; phenotype.
DR MedGen; CN234682.
DR MeSH; D020294.
KW KW-1004:Congenital myasthenic syndrome.
//
ID Myasthenic syndrome, congenital, 1A, slow-channel.
AC DI-00368
AR CMS1A.
DE A common congenital myasthenic syndrome. Congenital myasthenic
DE syndromes are characterized by muscle weakness affecting the axial and
DE limb muscles (with hypotonia in early-onset forms), the ocular muscles
DE (leading to ptosis and ophthalmoplegia), and the facial and bulbar
DE musculature (affecting sucking and swallowing, and leading to
DE dysphonia). The symptoms fluctuate and worsen with physical effort.
DE CMS1A is a slow-channel myasthenic syndrome. It is caused by kinetic
DE abnormalities of the AChR, resulting in prolonged AChR channel opening
DE episodes, prolonged endplate currents, and depolarization block. This
DE is associated with calcium overload, which may contribute to
DE subsequent degeneration of the endplate and postsynaptic membrane.
SY CMS2A.
SY CMS IIa.
SY Congenital myasthenic syndrome post-synaptic slow-channel.
SY Congenital myasthenic syndrome type IIa.
SY Myasthenic syndrome, congenital, slow-channel.
SY SCCMS.
DR MIM; 601462; phenotype.
DR MedGen; C0751885.
DR MedGen; C2931107.
DR MeSH; D020294.
KW KW-1004:Congenital myasthenic syndrome.
//
ID Myasthenic syndrome, congenital, 1B, fast-channel.
AC DI-00367
AR CMS1B.
DE A form of congenital myasthenic syndrome, a group of disorders
DE characterized by failure of neuromuscular transmission, including pre-
DE synaptic, synaptic, and post-synaptic disorders that are not of
DE autoimmune origin. Clinical features are easy fatigability and muscle
DE weakness affecting the axial and limb muscles (with hypotonia in
DE early-onset forms), the ocular muscles (leading to ptosis and
DE ophthalmoplegia), and the facial and bulbar musculature (affecting
DE sucking and swallowing, and leading to dysphonia). The symptoms
DE fluctuate and worsen with physical effort. CMS1B is a fast-channel
DE myasthenic syndrome. It is caused by kinetic abnormalities of the
DE AChR, resulting in brief opening and activity of the channel, with a
DE rapid decay in endplate current, failure to achieve threshold
DE depolarization of the endplate and consequent failure to fire an
DE action potential.
SY FCCMS.
SY Myasthenic syndrome, congenital, fast-channel.
DR MIM; 608930; phenotype.
DR MedGen; C1837122.
DR MeSH; D020294.
KW KW-1004:Congenital myasthenic syndrome.
//
ID Myasthenic syndrome, congenital, 20, presynaptic.
AC DI-04861
AR CMS20.
DE A form of congenital myasthenic syndrome, a group of disorders
DE characterized by failure of neuromuscular transmission, including pre-
DE synaptic, synaptic, and post-synaptic disorders that are not of
DE autoimmune origin. Clinical features are easy fatigability and muscle
DE weakness. CMS20 is an autosomal recessive, pre-synaptic form
DE characterized by severe hypotonia and episodic apnea soon after birth,
DE generalized limb fatigability and weakness, delayed walking, ptosis,
DE poor sucking and swallowing.
DR MIM; 617143; phenotype.
DR MedGen; CN238686.
DR MeSH; D020294.
KW KW-1004:Congenital myasthenic syndrome.
//
ID Myasthenic syndrome, congenital, 21, presynaptic.
AC DI-04909
AR CMS21.
DE A form of congenital myasthenic syndrome, a group of disorders
DE characterized by failure of neuromuscular transmission, including pre-
DE synaptic, synaptic, and post-synaptic disorders that are not of
DE autoimmune origin. Clinical features are easy fatigability and muscle
DE weakness. CMS21 is an autosomal recessive, pre-synaptic form
DE characterized by ptosis, ophthalmoplegia, fatigable weakness, apneic
DE crises, and deterioration of symptoms in cold water. Learning
DE difficulties and left ventricular dysfunction may be present in some
DE patients.
DR MIM; 617239; phenotype.
DR MedGen; CN239550.
DR MeSH; D020294.
KW KW-1004:Congenital myasthenic syndrome.
//
ID Myasthenic syndrome, congenital, 22.
AC DI-04963
AR CMS22.
DE A form of congenital myasthenic syndrome, a group of disorders
DE characterized by failure of neuromuscular transmission, including pre-
DE synaptic, synaptic, and post-synaptic disorders that are not of
DE autoimmune origin. Clinical features include easy fatigability and
DE muscle weakness. CMS22 is an autosomal recessive form characterized by
DE neonatal hypotonia.
SY PREPL deficiency.
DR MIM; 616224; phenotype.
DR MedGen; CN240841.
DR MeSH; D020294.
KW KW-1004:Congenital myasthenic syndrome.
//
ID Myasthenic syndrome, congenital, 23, presynaptic.
AC DI-05393
AR CMS23.
DE A form of congenital myasthenic syndrome, a group of disorders
DE characterized by failure of neuromuscular transmission, including pre-
DE synaptic, synaptic, and post-synaptic disorders that are not of
DE autoimmune origin. Clinical features include easy fatigability and
DE muscle weakness. CMS23 inheritance is autosomal recessive.
DR MIM; 618197; phenotype.
DR MeSH; D020294.
KW KW-1004:Congenital myasthenic syndrome.
//
ID Myasthenic syndrome, congenital, 24, presynaptic.
AC DI-05394
AR CMS24.
DE A form of congenital myasthenic syndrome, a group of disorders
DE characterized by failure of neuromuscular transmission, including pre-
DE synaptic, synaptic, and post-synaptic disorders that are not of
DE autoimmune origin. Clinical features include easy fatigability and
DE muscle weakness. CMS24 inheritance is autosomal recessive.
DR MIM; 618198; phenotype.
DR MedGen; CN257489.
DR MeSH; D020294.
KW KW-1004:Congenital myasthenic syndrome.
//
ID Myasthenic syndrome, congenital, 25, presynaptic.
AC DI-05479
AR CMS25.
DE A form of congenital myasthenic syndrome, a group of disorders
DE characterized by failure of neuromuscular transmission, including pre-
DE synaptic, synaptic, and post-synaptic disorders that are not of
DE autoimmune origin. Clinical features include easy fatigability and
DE muscle weakness. CMS25 is an autosomal recessive form characterized by
DE hypotonia and generalized muscle weakness apparent from birth.
DE Affected individuals have feeding difficulties and delayed motor
DE development, usually never achieving independent ambulation.
DE Additional variable features include eye movement abnormalities, joint
DE contractures, and rigid spine.
DR MIM; 618323; phenotype.
DR MedGen; CN258208.
DR MeSH; D020294.
KW KW-1004:Congenital myasthenic syndrome.
//
ID Myasthenic syndrome, congenital, 2A, slow-channel.
AC DI-04393
AR CMS2A.
DE A form of congenital myasthenic syndrome, a group of disorders
DE characterized by failure of neuromuscular transmission, including pre-
DE synaptic, synaptic, and post-synaptic disorders that are not of
DE autoimmune origin. Clinical features are easy fatigability and muscle
DE weakness affecting the axial and limb muscles (with hypotonia in
DE early-onset forms), the ocular muscles (leading to ptosis and
DE ophthalmoplegia), and the facial and bulbar musculature (affecting
DE sucking and swallowing, and leading to dysphonia). The symptoms
DE fluctuate and worsen with physical effort. CMS2A is a slow-channel
DE myasthenic syndrome. It is caused by kinetic abnormalities of the
DE AChR, resulting in prolonged AChR channel opening episodes, prolonged
DE endplate currents, and depolarization block. This is associated with
DE calcium overload, which may contribute to subsequent degeneration of
DE the endplate and postsynaptic membrane.
DR MIM; 616313; phenotype.
DR MedGen; CN229747.
DR MeSH; D020294.
KW KW-1004:Congenital myasthenic syndrome.
//
ID Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency.
AC DI-04398
AR CMS2C.
DE A form of congenital myasthenic syndrome, a group of disorders
DE characterized by failure of neuromuscular transmission, including pre-
DE synaptic, synaptic, and post-synaptic disorders that are not of
DE autoimmune origin. Clinical features are easy fatigability and muscle
DE weakness affecting the axial and limb muscles (with hypotonia in
DE early-onset forms), the ocular muscles (leading to ptosis and
DE ophthalmoplegia), and the facial and bulbar musculature (affecting
DE sucking and swallowing, and leading to dysphonia). The symptoms
DE fluctuate and worsen with physical effort. CMS2C is an autosomal
DE recessive disorder of postsynaptic neuromuscular transmission, due to
DE deficiency of AChR at the endplate that results in low amplitude of
DE the miniature endplate potential and current. CMS2C is clinically
DE characterized by early-onset muscle weakness with variable severity.
DR MIM; 616314; phenotype.
DR MedGen; CN229748.
DR MeSH; D020294.
KW KW-1004:Congenital myasthenic syndrome.
//
ID Myasthenic syndrome, congenital, 3A, slow-channel.
AC DI-04394
AR CMS3A.
DE A form of congenital myasthenic syndrome, a group of disorders
DE characterized by failure of neuromuscular transmission, including pre-
DE synaptic, synaptic, and post-synaptic disorders that are not of
DE autoimmune origin. Clinical features are easy fatigability and muscle
DE weakness affecting the axial and limb muscles (with hypotonia in
DE early-onset forms), the ocular muscles (leading to ptosis and
DE ophthalmoplegia), and the facial and bulbar musculature (affecting
DE sucking and swallowing, and leading to dysphonia). The symptoms
DE fluctuate and worsen with physical effort. CMS3A is a slow-channel
DE myasthenic syndrome. It is caused by kinetic abnormalities of the
DE AChR, resulting in prolonged AChR channel opening episodes, prolonged
DE endplate currents, and depolarization block. This is associated with
DE calcium overload, which may contribute to subsequent degeneration of
DE the endplate and postsynaptic membrane.
DR MIM; 616321; phenotype.
DR MedGen; CN229749.
DR MeSH; D020294.
KW KW-1004:Congenital myasthenic syndrome.
//
ID Myasthenic syndrome, congenital, 3B, fast-channel.
AC DI-04395
AR CMS3B.
DE A form of congenital myasthenic syndrome, a group of disorders
DE characterized by failure of neuromuscular transmission, including pre-
DE synaptic, synaptic, and post-synaptic disorders that are not of
DE autoimmune origin. Clinical features are easy fatigability and muscle
DE weakness affecting the axial and limb muscles (with hypotonia in
DE early-onset forms), the ocular muscles (leading to ptosis and
DE ophthalmoplegia), and the facial and bulbar musculature (affecting
DE sucking and swallowing, and leading to dysphonia). The symptoms
DE fluctuate and worsen with physical effort. CMS3B is a fast-channel
DE myasthenic syndrome. It is caused by kinetic abnormalities of the
DE AChR, resulting in brief opening and activity of the channel, with a
DE rapid decay in endplate current, failure to achieve threshold
DE depolarization of the endplate and consequent failure to fire an
DE action potential.
DR MIM; 616322; phenotype.
DR MedGen; CN229750.
DR MeSH; D020294.
KW KW-1004:Congenital myasthenic syndrome.
//
ID Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency.
AC DI-04399
AR CMS3C.
DE A form of congenital myasthenic syndrome, a group of disorders
DE characterized by failure of neuromuscular transmission, including pre-
DE synaptic, synaptic, and post-synaptic disorders that are not of
DE autoimmune origin. Clinical features are easy fatigability and muscle
DE weakness affecting the axial and limb muscles (with hypotonia in
DE early-onset forms), the ocular muscles (leading to ptosis and
DE ophthalmoplegia), and the facial and bulbar musculature (affecting
DE sucking and swallowing, and leading to dysphonia). The symptoms
DE fluctuate and worsen with physical effort. CMS3C is an autosomal
DE recessive disorder of postsynaptic neuromuscular transmission, due to
DE deficiency of AChR at the endplate that results in low amplitude of
DE the miniature endplate potential and current.
DR MIM; 616323; phenotype.
DR MedGen; CN229751.
DR MeSH; D020294.
KW KW-1004:Congenital myasthenic syndrome.
//
ID Myasthenic syndrome, congenital, 4A, slow-channel.
AC DI-04397
AR CMS4A.
DE A form of congenital myasthenic syndrome, a group of disorders
DE characterized by failure of neuromuscular transmission, including pre-
DE synaptic, synaptic, and post-synaptic disorders that are not of
DE autoimmune origin. Clinical features are easy fatigability and muscle
DE weakness affecting the axial and limb muscles (with hypotonia in
DE early-onset forms), the ocular muscles (leading to ptosis and
DE ophthalmoplegia), and the facial and bulbar musculature (affecting
DE sucking and swallowing, and leading to dysphonia). The symptoms
DE fluctuate and worsen with physical effort. CMS4A is a slow-channel
DE myasthenic syndrome. It is caused by kinetic abnormalities of the
DE AChR, resulting in prolonged AChR channel opening episodes, prolonged
DE endplate currents, and depolarization block. This is associated with
DE calcium overload, which may contribute to subsequent degeneration of
DE the endplate and postsynaptic membrane.
SY CMS1A1.
SY CMS Ia1.
SY Congenital myasthenic syndrome type Ia1.
SY Myasthenia, familial infantile, 1.
DR MIM; 605809; phenotype.
DR MedGen; C1853949.
DR MeSH; D020294.
KW KW-1004:Congenital myasthenic syndrome.
//
ID Myasthenic syndrome, congenital, 4B, fast-channel.
AC DI-04396
AR CMS4B.
DE A form of congenital myasthenic syndrome, a group of disorders
DE characterized by failure of neuromuscular transmission, including pre-
DE synaptic, synaptic, and post-synaptic disorders that are not of
DE autoimmune origin. Clinical features are easy fatigability and muscle
DE weakness affecting the axial and limb muscles (with hypotonia in
DE early-onset forms), the ocular muscles (leading to ptosis and
DE ophthalmoplegia), and the facial and bulbar musculature (affecting
DE sucking and swallowing, and leading to dysphonia). The symptoms
DE fluctuate and worsen with physical effort. CMS4B is a fast-channel
DE myasthenic syndrome. It is caused by kinetic abnormalities of the
DE AChR, resulting in brief opening and activity of the channel, with a
DE rapid decay in endplate current, failure to achieve threshold
DE depolarization of the endplate and consequent failure to fire an
DE action potential.
DR MIM; 616324; phenotype.
DR MedGen; CN229752.
DR MeSH; D020294.
KW KW-1004:Congenital myasthenic syndrome.
//
ID Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.
AC DI-00369
AR CMS4C.
DE A form of congenital myasthenic syndrome, a group of disorders
DE characterized by failure of neuromuscular transmission, including pre-
DE synaptic, synaptic, and post-synaptic disorders that are not of
DE autoimmune origin. Clinical features are easy fatigability and muscle
DE weakness affecting the axial and limb muscles (with hypotonia in
DE early-onset forms), the ocular muscles (leading to ptosis and
DE ophthalmoplegia), and the facial and bulbar musculature (affecting
DE sucking and swallowing, and leading to dysphonia). The symptoms
DE fluctuate and worsen with physical effort. CMS4C is an autosomal
DE recessive disorder of postsynaptic neuromuscular transmission, due to
DE deficiency of AChR at the endplate that results in low amplitude of
DE the miniature endplate potential and current.
SY CMS1D.
SY CMS1E.
SY CMS-ACHRD.
SY CMS Id.
SY CMS Ie.
SY Congenital myasthenic syndrome post-synaptic associated with acetylcholine receptor deficiency.
SY Congenital myasthenic syndrome type 1d.
SY Congenital myasthenic syndrome type 1e.
SY Congenital myasthenic syndrome type Id.
SY Congenital myasthenic syndrome type Ie.
SY Congenital myasthenic syndrome with facial dysmorphism associated with acetylcholine receptor deficiency.
SY FIM1.
SY Myasthenia, familial infantile, 1.
SY Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency.
DR MIM; 608931; phenotype.
DR MedGen; C1837091.
DR MedGen; C1837092.
DR MeSH; D020294.
KW KW-1004:Congenital myasthenic syndrome.
//
ID Myasthenic syndrome, congenital, 5.
AC DI-00366
AR CMS5.
DE A form of congenital myasthenic syndrome, a group of disorders
DE characterized by failure of neuromuscular transmission, including pre-
DE synaptic, synaptic, and post-synaptic disorders that are not of
DE autoimmune origin. Clinical features are easy fatigability and muscle
DE weakness affecting the axial and limb muscles (with hypotonia in
DE early-onset forms), the ocular muscles (leading to ptosis and
DE ophthalmoplegia), and the facial and bulbar musculature (affecting
DE sucking and swallowing, and leading to dysphonia). The symptoms
DE fluctuate and worsen with physical effort. CMS5 inheritance is
DE autosomal recessive.
SY CMS1C.
SY CMSE.
SY CMS Ic.
SY Congenital myasthenic syndrome type 1c.
SY Congenital myasthenic syndrome type Ic.
SY EAD.
SY Endplate acetylcholinesterase deficiency.
SY End-plate acetylcholinesterase deficiency.
SY Engel congenital myasthenic syndrome.
SY Myasthenic syndrome, congenital, Engel type.
DR MIM; 603034; phenotype.
DR MedGen; C1864233.
DR MeSH; D020294.
KW KW-1004:Congenital myasthenic syndrome.
//
ID Myasthenic syndrome, congenital, 6, presynaptic.
AC DI-00370
AR CMS6.
DE A form of congenital myasthenic syndrome, a group of disorders
DE characterized by failure of neuromuscular transmission, including pre-
DE synaptic, synaptic, and post-synaptic disorders that are not of
DE autoimmune origin. Clinical features are easy fatigability and muscle
DE weakness affecting the axial and limb muscles (with hypotonia in
DE early-onset forms), the ocular muscles (leading to ptosis and
DE ophthalmoplegia), and the facial and bulbar musculature (affecting
DE sucking and swallowing, and leading to dysphonia). The symptoms
DE fluctuate and worsen with physical effort. CMS6 affected individuals
DE have myasthenic symptoms since birth or early infancy, negative tests
DE for anti-AChR antibodies, and abrupt episodic crises with increased
DE weakness, bulbar paralysis, and apnea precipitated by undue exertion,
DE fever, or excitement. CMS6 inheritance is autosomal recessive.
SY CMS1A.
SY CMSEA.
SY CMS-EA.
SY CMS Ia.
SY Congenital myasthenic syndrome pre-synaptic associated with episodic apnea.
SY Congenital myasthenic syndrome type 1a.
SY Congenital myasthenic syndrome type Ia.
SY Familial infantile myasthenia gravis 2.
SY FIMG2.
SY Myasthenic syndrome, congenital, associated with episodic apnea.
DR MIM; 254210; phenotype.
DR MedGen; C0393929.
DR MeSH; D020294.
KW KW-1004:Congenital myasthenic syndrome.
//
ID Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant.
AC DI-04255
AR CMS7A.
DE A form of congenital myasthenic syndrome, a group of disorders
DE characterized by failure of neuromuscular transmission, including pre-
DE synaptic, synaptic, and post-synaptic disorders that are not of
DE autoimmune origin. Clinical features are easy fatigability and muscle
DE weakness. CMS7A is an autosomal dominant, presynaptic disorder
DE resembling Lambert-Eaton myasthenic syndrome. Affected individuals
DE have a variable degree of proximal and distal limb weakness, muscle
DE fatigue that improves with rest, mild gait difficulties, and reduced
DE or absent deep tendon reflexes.
SY Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy.
SY MYSPC.
DR MIM; 616040; phenotype.
DR MedGen; CN219804.
DR MeSH; D020294.
KW KW-1004:Congenital myasthenic syndrome.
//
ID Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive.
AC DI-06179
AR CMS7B.
DE An autosomal recessive form of congenital myasthenic syndrome, a group
DE of disorders characterized by failure of neuromuscular transmission,
DE including pre-synaptic, synaptic, and post-synaptic disorders that are
DE not of autoimmune origin. Clinical features are easy fatigability and
DE muscle weakness. CMS7B is characterized by defects at the pre-synaptic
DE neuromuscular junction and severe generalized muscle weakness apparent
DE from birth. Decreased fetal movements may be apparent in utero.
DE Affected infants have generalized hypotonia, head lag, and facial
DE muscle weakness with ptosis. Some patients may have respiratory
DE involvement.
DR MIM; 619461; phenotype.
DR MedGen; CN300319.
DR MeSH; D020294.
KW KW-1004:Congenital myasthenic syndrome.
//
ID Myasthenic syndrome, congenital, 8.
AC DI-04109
AR CMS8.
DE A form of congenital myasthenic syndrome, a group of disorders
DE characterized by failure of neuromuscular transmission, including pre-
DE synaptic, synaptic, and post-synaptic disorders that are not of
DE autoimmune origin. Clinical features are easy fatigability and muscle
DE weakness. CMS8 is an autosomal recessive disease characterized by
DE prominent defects of both the pre- and postsynaptic regions. Affected
DE individuals have onset of muscle weakness in early childhood; the
DE severity of the weakness and muscles affected is variable.
SY CMSPPD.
SY Congenital myasthenic syndrome due to agrin deficiency.
SY Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects.
SY Myasthenic syndrome, congenital, with pre- and postsynaptic defects.
DR MIM; 615120; phenotype.
DR MedGen; C3808739.
DR MedGen; CN186031.
DR MeSH; D020294.
KW KW-1004:Congenital myasthenic syndrome.
//
ID Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency.
AC DI-04400
AR CMS9.
DE A form of congenital myasthenic syndrome, a group of disorders
DE characterized by failure of neuromuscular transmission, including pre-
DE synaptic, synaptic, and post-synaptic disorders that are not of
DE autoimmune origin. Clinical features are easy fatigability and muscle
DE weakness affecting the axial and limb muscles (with hypotonia in
DE early-onset forms), the ocular muscles (leading to ptosis and
DE ophthalmoplegia), and the facial and bulbar musculature (affecting
DE sucking and swallowing, and leading to dysphonia). The symptoms
DE fluctuate and worsen with physical effort. CMS9 is a disorder of
DE postsynaptic neuromuscular transmission, due to deficiency of AChR at
DE the endplate that results in low amplitude of the miniature endplate
DE potential and current.
DR MIM; 616325; phenotype.
DR MedGen; CN229753.
DR MeSH; D020294.
KW KW-1004:Congenital myasthenic syndrome.
//
ID Myelodysplastic syndrome.
AC DI-03291
AR MDS.
DE A heterogeneous group of closely related clonal hematopoietic
DE disorders. All are characterized by a hypercellular or hypocellular
DE bone marrow with impaired morphology and maturation, dysplasia of the
DE myeloid, megakaryocytic and/or erythroid lineages, and peripheral
DE blood cytopenias resulting from ineffective blood cell production.
DE Included diseases are: refractory anemia (RA), refractory anemia with
DE ringed sideroblasts (RARS), refractory anemia with excess blasts
DE (RAEB), refractory cytopenia with multilineage dysplasia and ringed
DE sideroblasts (RCMD-RS); chronic myelomonocytic leukemia (CMML) is a
DE myelodysplastic/myeloproliferative disease. MDS is considered a
DE premalignant condition in a subgroup of patients that often progresses
DE to acute myeloid leukemia (AML).
DR MIM; 614286; phenotype.
DR MedGen; C3463824.
DR MeSH; D009190.
//
ID Myelofibrosis.
AC DI-02746
AR MYELOF.
DE A disorder characterized by replacement of the bone marrow by fibrous
DE tissue, occurring in association with a myeloproliferative disorder.
DE Clinical manifestations may include anemia, pallor, splenomegaly,
DE hypermetabolic state, petechiae, ecchymosis, bleeding,
DE lymphadenopathy, hepatomegaly, portal hypertension.
SY Idiopathic myelofibrosis.
SY Myelosclerosis.
DR MIM; 254450; phenotype.
DR MedGen; C0001815.
DR MeSH; D055728.
//
ID Myelofibrosis with myeloid metaplasia.
AC DI-03415
AR MMM.
DE A chronic myeloproliferative disorder characterized by replacement of
DE the bone marrow by fibrous tissue, extramedullary hematopoiesis,
DE anemia, leukoerythroblastosis and hepatosplenomegaly.
SY Agnogenic myeloid metaplasia.
SY Agnogenic myeloid metaplasia with myelofibrosis.
SY AMMM.
SY Myelosclerosis with myeloid metaplasia.
DR MIM; 254450; phenotype.
DR MedGen; C0026987.
DR MeSH; D009191.
//
ID Myeloperoxidase deficiency.
AC DI-02016
AR MPOD.
DE A disorder characterized by decreased myeloperoxidase activity in
DE neutrophils and monocytes that results in disseminated candidiasis.
SY MPO deficiency.
DR MIM; 254600; phenotype.
DR MedGen; C0398595.
DR MeSH; D002177.
//
ID Myeloproliferative disorder chronic with eosinophilia.
AC DI-02609
AR MPE.
DE A hematologic disorder characterized by malignant eosinophils
DE proliferation.
SY Malignant proliferation of eosinophils.
DR MIM; 131440; phenotype.
DR MedGen; C1851585.
//
ID Myeloproliferative/lymphoproliferative neoplasms, familial.
AC DI-04687
AR MPLPF.
DE A familial cancer predisposition syndrome with incomplete penetrance,
DE characterized by increased susceptibility to myeloid neoplasms and
DE rarely to lymphoid malignancies. MPLPF inheritance is autosomal
DE dominant.
SY Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types).
DR MIM; 616871; phenotype.
DR MedGen; CN235622.
DR MeSH; D008223.
DR MeSH; D054437.
//
ID Myhre syndrome.
AC DI-03349
AR MYHRS.
DE A syndrome characterized by pre- and postnatal growth deficiency,
DE intellectual disability, generalized muscle hypertrophy and striking
DE muscular build, decreased joint mobility, cryptorchidism, and unusual
DE facies. Dysmorphic facial features include microcephaly, midface
DE hypoplasia, prognathism, and blepharophimosis. Typical skeletal
DE anomalies are short stature, square body shape, broad ribs, iliac
DE hypoplasia, brachydactyly, flattened vertebrae, and thickened
DE calvaria. Other features, such as congenital heart disease, may also
DE occur.
SY Growth-mental deficiency syndrome of Myhre.
DR MIM; 139210; phenotype.
DR MedGen; C0796081.
DR MeSH; D006130.
DR MeSH; D008607.
//
ID Myocardial infarction 1.
AC DI-02017
AR MCI1.
DE A condition defined by the irreversible necrosis of heart muscle
DE secondary to prolonged ischemia.
SY Premature myocardial infarction.
DR MIM; 608446; phenotype.
DR MedGen; C1832662.
DR MedGen; C1838021.
DR MedGen; C3277063.
DR MeSH; D009203.
//
ID Myoclonic-atonic epilepsy.
AC DI-04457
AR MAE.
DE A form of epilepsy characterized by myoclonic-atonic and absence
DE seizures, appearing in early childhood. Patients have delayed
DE development before the onset of seizures and show varying degrees of
DE intellectual disability following seizure onset.
DR MIM; 616421; phenotype.
DR MedGen; CN231318.
DR MeSH; D004831.
DR MeSH; D004832.
KW KW-0887:Epilepsy.
//
ID Myoclonus, familial, 1.
AC DI-03616
AR MYOCL1.
DE An autosomal dominant neurologic condition characterized by adult
DE onset of cortical myoclonus manifest as involuntary jerks or movements
DE affecting the face and limbs. Affected individuals can also experience
DE falls without seizure activity or loss of consciousness.
SY FCM.
SY Myoclonus, familial cortical.
DR MIM; 614937; phenotype.
DR MedGen; C3539916.
DR MedGen; CN160752.
DR MeSH; D009207.
//
ID Myoclonus, familial, 2.
AC DI-05513
AR MYOCL2.
DE An autosomal dominant neurologic disorder characterized by upper limb
DE isolated myoclonus without seizures or cognitive impairment. MYOCL2 is
DE a non-progressive disease with onset in the first decade of life.
DR MIM; 618364; phenotype.
DR MedGen; CN258255.
DR MeSH; D009207.
//
ID Myoclonus, intractable, neonatal.
AC DI-04913
AR NEIMY.
DE An autosomal dominant neurologic disorder characterized by severe,
DE infantile-onset myoclonic seizures, hypotonia, optic nerve
DE abnormalities, dysphagia, apnea, and early developmental arrest. Brain
DE imaging shows a progressive leukoencephalopathy. Some patients may die
DE in infancy.
DR MIM; 617235; phenotype.
DR MedGen; CN239547.
DR MeSH; D004831.
KW KW-0887:Epilepsy.
//
ID Myofibromatosis, infantile 1.
AC DI-03815
AR IMF1.
DE A rare mesenchymal disorder characterized by the development of benign
DE tumors in the skin, striated muscles, bones, and, more rarely,
DE visceral organs. Subcutaneous or soft tissue nodules commonly involve
DE the skin of the head, neck, and trunk. Skeletal and muscular lesions
DE occur in about half of the patients. Lesions may be solitary or
DE multicentric, and they may be present at birth or become apparent in
DE early infancy or occasionally in adult life. Visceral lesions are
DE associated with high morbidity and mortality.
SY CGF.
SY Congenital generalized fibromatosis.
SY Juvenile myofibromatosis.
DR MIM; 228550; phenotype.
DR MedGen; C0432284.
DR MedGen; C1856768.
DR MeSH; D018224.
//
ID Myofibromatosis, infantile 2.
AC DI-03816
AR IMF2.
DE A rare mesenchymal disorder characterized by the development of benign
DE tumors in the skin, striated muscles, bones, and, more rarely,
DE visceral organs. Subcutaneous or soft tissue nodules commonly involve
DE the skin of the head, neck, and trunk. Skeletal and muscular lesions
DE occur in about half of the patients. Lesions may be solitary or
DE multicentric, and they may be present at birth or become apparent in
DE early infancy or occasionally in adult life. Visceral lesions are
DE associated with high morbidity and mortality.
DR MIM; 615293; phenotype.
DR MedGen; C3809084.
DR MedGen; CN177831.
DR MeSH; D018224.
//
ID Myoglobinuria, acute recurrent, autosomal recessive.
AC DI-01227
AR ARARM.
DE Recurrent myoglobinuria is characterized by recurrent attacks of
DE rhabdomyolysis (necrosis or disintegration of skeletal muscle)
DE associated with muscle pain and weakness and followed by excretion of
DE myoglobin in the urine. Renal failure may occasionally occur.
SY Acute recurrent rhabdomyolysis.
SY Familial paroxysmal paralytic myoglobinuria.
DR MIM; 268200; phenotype.
DR MedGen; C1849386.
DR MedGen; CN068857.
DR MeSH; D009212.
//
ID Myokymia isolated 1.
AC DI-00793
AR MK1.
DE A condition characterized by spontaneous involuntary contraction of
DE muscle fiber groups that can be observed as vermiform movement of the
DE overlying skin. Electromyography typically shows continuous motor unit
DE activity with spontaneous oligo- and multiplet-discharges of high
DE intraburst frequency (myokymic discharges). Isolated spontaneous
DE muscle twitches occur in many persons and have no grave significance.
DR MIM; 160120; phenotype.
DR MedGen; C1834559.
DR MedGen; C2674766.
DR MeSH; D020385.
//
ID Myopathy due to myoadenylate deaminase deficiency.
AC DI-00039
AR MMDD.
DE A metabolic disorder resulting in exercise-related myopathy. It is
DE characterized by exercise-induced muscle aches, cramps, and early
DE fatigue.
SY Adenosine monophosphate deaminase deficiency muscle type.
SY AMPD1 deficiency.
SY AMP deaminase deficiency muscle type.
SY MAD deficiency.
SY Myoadenylate deaminase deficiency.
DR MIM; 615511; phenotype.
DR MedGen; C0268123.
DR MedGen; C3714933.
DR MeSH; D008661.
//
ID Myopathy with exercise intolerance Swedish type.
AC DI-02019
AR MEIS.
DE Autosomal recessive metabolic disease characterized by lifelong severe
DE exercise intolerance, in which minor exertion causes fatigue of active
DE muscles, shortness of breath, and cardiac palpitations in association
DE with lactic acidosis. The biochemical phenotype is characterized by a
DE deficiency in mitochondrial iron-sulfur proteins and impaired muscle
DE oxidative metabolism.
SY Hereditary myopathy with lactic acidosis.
SY HML.
SY Myoglobinuria due to abnormal glycolysis.
SY Myopathy with deficiency of succinate dehydrogenase and aconitase.
DR MIM; 255125; phenotype.
DR MedGen; C1850718.
//
ID Myopathy with extrapyramidal signs.
AC DI-04058
AR MPXPS.
DE An autosomal recessive disorder characterized by early-onset proximal
DE muscle weakness with a static course and moderately to grossly
DE elevated serum creatine kinase levels accompanied by learning
DE difficulties. Most patients develop subtle extrapyramidal motor signs
DE that progress to a debilitating disorder of involuntary movement with
DE variable features, including chorea, tremor, dystonic posturing and
DE orofacial dyskinesia. Additional variable features include ataxia,
DE microcephaly, ophthalmoplegia, ptosis, optic atrophy and axonal
DE peripheral neuropathy.
DR MIM; 615673; phenotype.
DR MedGen; C3810285.
DR MedGen; CN185296.
DR MeSH; D007859.
DR MeSH; D009069.
DR MeSH; D009135.
//
ID Myopathy with lactic acidosis and sideroblastic anemia 1.
AC DI-02020
AR MLASA1.
DE A rare oxidative phosphorylation disorder specific to skeletal muscle
DE and bone marrow. Affected individuals manifest progressive muscle
DE weakness, exercise intolerance, lactic acidosis, sideroblastic anemia
DE and delayed growth.
SY Mitochondrial myopathy and sideroblastic anemia.
DR MIM; 600462; phenotype.
DR MedGen; C1838103.
DR MeSH; D000140.
DR MeSH; D000756.
KW KW-1274:Primary mitochondrial disease.
//
ID Myopathy with lactic acidosis and sideroblastic anemia 2.
AC DI-02902
AR MLASA2.
DE A rare oxidative phosphorylation disorder specific to skeletal muscle
DE and bone marrow. Affected individuals manifest sideroblastic anemia,
DE progressive lethargy, muscle weakness, and exercise intolerance
DE associated with persistent lactic acidemia.
DR MIM; 613561; phenotype.
DR MedGen; C3150802.
DR MeSH; D000140.
DR MeSH; D000756.
KW KW-1274:Primary mitochondrial disease.
//
ID Myopathy, actin, congenital, with excess of thin myofilaments.
AC DI-01412
AR MPCETM.
DE A congenital muscular disorder characterized at histological level by
DE areas of sarcoplasm devoid of normal myofibrils and mitochondria, and
DE replaced with dense masses of thin filaments. Central cores, rods,
DE ragged red fibers, and necrosis are absent.
DR MIM; 161800; phenotype.
DR MedGen; C1834339.
DR MeSH; D020914.
//
ID Myopathy, autosomal recessive, with rigid spine and distal joint contractures.
AC DI-04804
AR MRRSDC.
DE An autosomal recessive degenerative myopathy characterized by muscle
DE weakness initially involving the proximal lower limbs, followed by
DE distal upper and lower limb muscle weakness and atrophy. Other
DE features include joint contractures, rigid spine, and restricted
DE pulmonary function. Cardiac involvement has been observed in some
DE patients. Disease onset is in the first or second decades of life.
SY LGMD2Y.
SY Limb-girdle muscular dystrophy 2Y.
SY Muscular dystrophy, limb-girdle, type 2Y.
DR MIM; 617072; phenotype.
DR MedGen; CN237798.
DR MeSH; D049288.
KW KW-0947:Limb-girdle muscular dystrophy.
//
ID Myopathy, centronuclear, 1.
AC DI-00252
AR CNM1.
DE A congenital muscle disorder characterized by progressive muscular
DE weakness and wasting involving mainly limb girdle, trunk, and neck
DE muscles. It may also affect distal muscles. Weakness may be present
DE during childhood or adolescence or may not become evident until the
DE third decade of life. Ptosis is a frequent clinical feature. The most
DE prominent histopathologic features include high frequency of centrally
DE located nuclei in muscle fibers not secondary to regeneration, radial
DE arrangement of sarcoplasmic strands around the central nuclei, and
DE predominance and hypotrophy of type 1 fibers.
SY Autosomal dominant myotubular myopathy.
SY Centronuclear myopathy autosomal dominant.
DR MIM; 160150; phenotype.
DR MedGen; C1834558.
DR MeSH; D020914.
//
ID Myopathy, centronuclear, 2.
AC DI-00253
AR CNM2.
DE A congenital muscle disorder characterized by progressive muscular
DE weakness and wasting involving mainly limb girdle, trunk, and neck
DE muscles. It may also affect distal muscles. Weakness may be present
DE during childhood or adolescence or may not become evident until the
DE third decade of life. Ptosis is a frequent clinical feature. The most
DE prominent histopathologic features include high frequency of centrally
DE located nuclei in muscle fibers not secondary to regeneration, radial
DE arrangement of sarcoplasmic strands around the central nuclei, and
DE predominance and hypotrophy of type 1 fibers.
SY Autosomal recessive myotubular myopathy.
SY Centronuclear myopathy autosomal recessive.
DR MIM; 255200; phenotype.
DR MedGen; C0410204.
DR MeSH; D020914.
//
ID Myopathy, centronuclear, 4.
AC DI-03519
AR CNM4.
DE A congenital muscle disorder characterized by progressive muscular
DE weakness and wasting involving mainly limb girdle, trunk, and neck
DE muscles. It may also affect distal muscles. Weakness may be present
DE during childhood or adolescence or may not become evident until the
DE third decade of life. Ptosis is a frequent clinical feature. The most
DE prominent histopathologic features include high frequency of centrally
DE located nuclei in muscle fibers not secondary to regeneration, radial
DE arrangement of sarcoplasmic strands around the central nuclei, and
DE predominance and hypotrophy of type 1 fibers.
DR MIM; 614807; phenotype.
DR MedGen; C3553709.
DR MedGen; CN143718.
DR MeSH; D020914.
//
ID Myopathy, centronuclear, 5.
AC DI-04210
AR CNM5.
DE A form of centronuclear myopathy, a congenital muscle disorder
DE characterized by progressive muscular weakness and wasting involving
DE mainly limb girdle, trunk, and neck muscles. It may also affect distal
DE muscles. Weakness may be present during childhood or adolescence or
DE may not become evident until the third decade of life. Ptosis is a
DE frequent clinical feature. The most prominent histopathologic features
DE include high frequency of centrally located nuclei in muscle fibers
DE not secondary to regeneration, radial arrangement of sarcoplasmic
DE strands around the central nuclei, and predominance and hypotrophy of
DE type 1 fibers. CNM5 features include severe neonatal hypotonia with
DE respiratory insufficiency, difficulty feeding, and delayed motor
DE development. Some patients die in infancy, and some develop dilated
DE cardiomyopathy.
DR MIM; 615959; phenotype.
DR MedGen; CN218417.
DR MeSH; D020914.
//
ID Myopathy, centronuclear, 6, with fiber-type disproportion.
AC DI-05139
AR CNM6.
DE A form of centronuclear myopathy, a congenital muscle disorder
DE characterized by progressive muscular weakness and wasting involving
DE mainly limb girdle, trunk, and neck muscles. It may also affect distal
DE muscles. Weakness may be present during childhood or adolescence or
DE may not become evident until the third decade of life. Ptosis is a
DE frequent clinical feature. The most prominent histopathologic features
DE include high frequency of centrally located nuclei in muscle fibers
DE not secondary to regeneration, radial arrangement of sarcoplasmic
DE strands around the central nuclei, and predominance and hypotrophy of
DE type 1 fibers. CNM6 is an autosomal recessive, slowly progressive form
DE with onset in infancy or early childhood.
DR MIM; 617760; phenotype.
DR MedGen; CN596208.
DR MeSH; D020914.
//
ID Myopathy, centronuclear, X-linked.
AC DI-00254
AR CNMX.
DE A congenital muscle disorder characterized by progressive muscular
DE weakness and wasting involving mainly limb girdle, trunk, and neck
DE muscles. It may also affect distal muscles. Weakness may be present
DE during childhood or adolescence or may not become evident until the
DE third decade of life. Ptosis is a frequent clinical feature. The most
DE prominent histopathologic features include high frequency of centrally
DE located nuclei in muscle fibers not secondary to regeneration, radial
DE arrangement of sarcoplasmic strands around the central nuclei, and
DE predominance and hypotrophy of type 1 fibers.
SY MTM1.
SY Myotubular myopathy type 1.
SY X-linked myotubular myopathy.
SY XLMTM.
DR MIM; 310400; phenotype.
DR MedGen; C0410203.
DR MeSH; D020914.
//
ID Myopathy, congenital proximal, with minicore lesions.
AC DI-05794
AR MYOPMIL.
DE An autosomal recessive, slowly progressive muscular disorder
DE characterized by primarily proximal muscle weakness, neonatal
DE hypotonia leading to delayed motor development, mildly delayed walking
DE in childhood, and difficulty running or climbing. Cardiac function is
DE unaffected, but most patients have obstructive sleep apnea. Muscle
DE biopsy shows type 1 fiber predominance with disorganized Z-lines and
DE minicores that disrupt the myofibrillar striation pattern.
DR MIM; 618823; phenotype.
DR MedGen; CN263394.
DR MeSH; D009135.
//
ID Myopathy, congenital, Bailey-Bloch.
AC DI-03974
AR MYPBB.
DE An autosomal recessive disease characterized by congenital weakness
DE and arthrogryposis, cleft palate, ptosis, short stature,
DE kyphoscoliosis, talipes deformities, and susceptibility to malignant
DE hyperthermia provoked by anesthesia.
SY Congenital myopathy with cleft palate and malignant hyperthermia.
SY NAM.
SY Native American myopathy.
DR MIM; 255995; phenotype.
DR MedGen; C1850625.
DR MeSH; D002972.
DR MeSH; D008305.
DR MeSH; D009135.
//
ID Myopathy, congenital, Compton-North.
AC DI-01385
AR MYPCN.
DE A lethal, autosomal recessive, congenital myopathy characterized by
DE fetal akinesia, neonatal hypotonia, severe muscle weakness, loss of
DE beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and
DE disruption of sarcomeres with disorganization of the Z band.
DR MIM; 612540; phenotype.
DR MedGen; C2675527.
DR MeSH; D020914.
//
ID Myopathy, congenital, progressive, with scoliosis.
AC DI-05660
AR MYOSCO.
DE An autosomal recessive muscular disorder characterized by infantile
DE onset of progressive muscular atrophy, hypotonia, ptosis, scoliosis
DE and dysmorphic facial features. Disease severity is variable, ranging
DE from mild to severe.
DR MIM; 618578; phenotype.
DR MedGen; CN262312.
DR MeSH; D009135.
//
ID Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies.
AC DI-05895
AR MYODRIF.
DE An autosomal recessive muscular disorder characterized by hypotonia
DE and respiratory insufficiency apparent soon after birth, high
DE diaphragmatic dome on imaging, poor overall growth, pectus excavatum,
DE dysmorphic facies, and renal anomalies in some affected individuals.
DE Additional variable features include delayed motor development, mildly
DE decreased endurance, distal arthrogryposis, and lung hypoplasia
DE resulting in early death.
SY Myopathy, congenital, due to MYOD1 deficiency.
DR MIM; 618975; phenotype.
DR MedGen; CN283324.
DR MeSH; D009135.
//
ID Myopathy, congenital, with fast-twitch type II fiber atrophy.
AC DI-05562
AR MYOFTA.
DE An autosomal recessive congenital myopathy characterized by decreased
DE fetal movements, severe muscle weakness and respiratory failure.
DE Additional features include delayed motor development, areflexia,
DE facial weakness, normal eye movements, head lag, and mild
DE contractures. Skeletal muscle biopsy shows variation in fiber size
DE with atrophy of the fast-twitch type II fibers.
SY Myopathy, congenital, with fast-twitch (type II) fiber atrophy.
DR MIM; 618414; phenotype.
DR MedGen; CN258373.
DR MeSH; D020914.
//
ID Myopathy, congenital, with fiber-type disproportion.
AC DI-01413
AR CFTD.
DE A genetically heterogeneous disorder in which there is relative
DE hypotrophy of type 1 muscle fibers compared to type 2 fibers on
DE skeletal muscle biopsy. However, these findings are not specific and
DE can be found in many different myopathic and neuropathic conditions.
SY CFTDM.
SY Congenital fiber-type disproportion myopathy.
DR MIM; 255310; phenotype.
DR MedGen; C0546264.
DR MeSH; D020914.
//
ID Myopathy, congenital, with respiratory insufficiency and bone fractures.
AC DI-05793
AR MYORIBF.
DE An autosomal recessive muscular disorder characterized by severe
DE hypotonia apparent at birth, poor feeding, ulnar deviation of the
DE hands, laterally deviated feet, fractures of the long bones,
DE respiratory insufficiency due to muscle weakness, and death in
DE infancy.
DR MIM; 618822; phenotype.
DR MedGen; CN263393.
DR MeSH; D009135.
//
ID Myopathy, congenital, with structured cores and Z-line abnormalities.
AC DI-05700
AR MYOCOZ.
DE An autosomal dominant muscular disorder characterized by progressive
DE early-onset muscle weakness, gait difficulties, loss of ambulation,
DE and respiratory insufficiency. Morphological and ultrastructural
DE analyses of muscle biopsies reveal type 1 fiber predominance, multiple
DE structured cores forming a circular arrangement beneath the
DE sarcolemma, and jagged Z-lines.
SY MSCD.
SY Multiple structured core disease.
DR MIM; 618654; phenotype.
DR MedGen; CN262665.
DR MeSH; D009135.
//
ID Myopathy, congenital, with tremor.
AC DI-05629
AR MYOTREM.
DE An autosomal dominant muscular disorder characterized by muscle
DE weakness, hypotonia associated with high-frequency postural tremor of
DE the limbs, mildly delayed walking, and steppage gait. Additional
DE features include skeletal deformities such as scoliosis, thoracic
DE asymmetry and spinal rigidity. Some patients show mild facial
DE dysmorphic features. Cognitive functions are normal.
SY Myogenic tremor.
DR MIM; 618524; phenotype.
DR MedGen; CN262196.
DR MeSH; D009135.
//
ID Myopathy, distal, 1.
AC DI-01873
AR MPD1.
DE A muscular disorder characterized by early-onset selective weakness of
DE the great toe and ankle dorsiflexors, followed by weakness of the
DE finger extensors. Mild proximal weakness occasionally develops years
DE later after the onset of the disease.
SY Distal myopathy 1.
SY Laing distal myopathy.
SY Laing early-onset distal myopathy.
SY Myopathy distal early-onset autosomal dominant.
SY Myopathy late distal hereditary.
DR MIM; 160500; phenotype.
DR MedGen; CN074249.
DR MeSH; D049310.
//
ID Myopathy, distal, 4.
AC DI-03144
AR MPD4.
DE A slowly progressive muscular disorder characterized by distal muscle
DE weakness and atrophy affecting the upper and lower limbs. Onset occurs
DE around the third to fourth decades of life, and patients remain
DE ambulatory even after long disease duration. Muscle biopsy shows non-
DE specific changes with no evidence of rods, necrosis, or inflammation.
SY Williams distal myopathy.
DR MIM; 614065; phenotype.
DR MedGen; C3279722.
DR MeSH; D049310.
//
ID Myopathy, distal, 5.
AC DI-04761
AR MPD5.
DE A form of distal myopathy, a group of muscular disorders characterized
DE by progressive muscular weakness and muscle atrophy beginning in the
DE hands, the legs or the feet. MPD5 is an autosomal recessive form,
DE predominantly affecting the lower limbs.
DR MIM; 617030; phenotype.
DR MedGen; CN237401.
DR MeSH; D049310.
//
ID Myopathy, distal, 6, adult onset, autosomal dominant.
AC DI-05701
AR MPD6.
DE An autosomal dominant muscular disorder characterized by adult onset
DE of asymmetric distal muscle weakness, primarily affecting the lower
DE limbs and resulting in gait difficulties. Some patients develop
DE involvement of proximal and upper limb muscles.
DR MIM; 618655; phenotype.
DR MedGen; CN262666.
DR MeSH; D009135.
//
ID Myopathy, distal, Tateyama type.
AC DI-03297
AR MPDT.
DE A disorder characterized by progressive muscular atrophy and muscle
DE weakness beginning in the hands, the legs, or the feet. Muscle atrophy
DE may be restricted to the small muscles of the hands and feet.
DR MIM; 614321; phenotype.
DR MedGen; C3280443.
DR MedGen; CN118020.
DR MeSH; D049310.
//
ID Myopathy, distal, with rimmed vacuoles.
AC DI-04886
AR DMRV.
DE An autosomal dominant myopathy with adult onset, characterized by
DE muscle weakness of the distal upper and lower limbs, walking
DE difficulties, and proximal weakness of the shoulder girdle muscles.
DE Muscle biopsy shows rimmed vacuoles.
SY MSP4.
SY Multisystem proteinopathy 4.
DR MIM; 617158; phenotype.
DR MedGen; CN239822.
DR MeSH; D009135.
//
ID Myopathy, early-onset, areflexia, respiratory distress, and dysphagia.
AC DI-03358
AR EMARDD.
DE An autosomal recessive congenital myopathy characterized by onset at
DE birth, or early in infancy, of respiratory distress caused by
DE diaphragmatic weakness. Additional features are dysphagia resulting in
DE poor feeding, failure to thrive, poor head control, facial weakness,
DE cleft palate, contractures and scoliosis. Affected individuals become
DE ventilator-dependent, and most require feeding by gastrostomy. The
DE disorder results in severe muscle weakness and most patients never
DE achieve walking. Death from respiratory failure in childhood occurs in
DE about half of patients. Muscle biopsies from affected individuals show
DE myopathic changes, replacement of myofibers with fatty tissue, small
DE and incompletely fused muscle fibers, and variation in fiber size.
DE Short regions of sarcomeric disorganization with few or no
DE mitochondria (minicores) have been observed in some cases.
DR MIM; 614399; phenotype.
DR MedGen; C3280679.
DR MedGen; C3541476.
DR MedGen; CN119527.
DR MeSH; D009135.
//
ID Myopathy, epilepsy, and progressive cerebral atrophy.
AC DI-05924
AR MEPCA.
DE An autosomal recessive disorder characterized by severe, early lethal
DE neurodegeneration, myasthenic and myopathic features, progressive
DE cerebral atrophy with myelination defects, and intractable epilepsy.
DR MIM; 619036; phenotype.
DR MedGen; CN292948.
DR MeSH; D065886.
KW KW-0523:Neurodegeneration.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Myopathy, isolated mitochondrial, autosomal dominant.
AC DI-04333
AR IMMD.
DE A mitochondrial myopathy presenting with severe exercise intolerance,
DE progressive proximal weakness, and lactic acidemia. The disorder is
DE slowly progressive, with later involvement of facial muscles, muscles
DE of the upper limbs, and distal muscles.
DR MIM; 616209; phenotype.
DR MedGen; CN225582.
DR MeSH; D017240.
//
ID Myopathy, lactic acidosis, and sideroblastic anemia 3.
AC DI-04410
AR MLASA3.
DE A rare mitochondrial disorder characterized by sideroblastic anemia,
DE muscle weakness, and exercise intolerance associated with persistent
DE lactic acidemia. Additional MLASA3 features are failure to thrive,
DE hearing loss, epilepsy, stroke-like episodes, and severe developmental
DE delay.
DR MIM; 500011; phenotype.
DR MedGen; CN230751.
DR MeSH; D000140.
DR MeSH; D000756.
KW KW-1274:Primary mitochondrial disease.
//
ID Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay.
AC DI-02638
AR MPMCD.
DE A disease characterized by progressive myopathy and partial combined
DE respiratory-chain deficiency, congenital cataract, sensorineural
DE hearing loss, and developmental delay.
SY Combined mitochondrial complex deficiency.
SY Myopathy with cataract and combined respiratory chain deficiency.
DR MIM; 613076; phenotype.
DR MedGen; C2751320.
DR MeSH; D017240.
KW KW-0209:Deafness.
KW KW-0898:Cataract.
KW KW-1274:Primary mitochondrial disease.
//
ID Myopathy, mitochondrial, and ataxia.
AC DI-05086
AR MMYAT.
DE A neuromuscular disorder characterized by muscle weakness and atrophy,
DE ataxia, poor growth, delayed motor development, dysdiadochokinesia,
DE dysmetria and additional neurologic features. Some patients show
DE skeletal and endocrine anomalies, as well as behavioral psychiatric
DE manifestations. MMYAT transmission pattern is consistent with
DE autosomal dominant inheritance in some families, and autosomal
DE recessive inheritance in others.
DR MIM; 617675; phenotype.
DR MedGen; CN484737.
DR MeSH; D009468.
//
ID Myopathy, myofibrillar, 1.
AC DI-01481
AR MFM1.
DE A form of myofibrillar myopathy, a group of chronic neuromuscular
DE disorders characterized at ultrastructural level by disintegration of
DE the sarcomeric Z disk and myofibrils, and replacement of the normal
DE myofibrillar markings by small dense granules, or larger hyaline
DE masses, or amorphous material. MFM1 is characterized by skeletal
DE muscle weakness associated with cardiac conduction blocks,
DE arrhythmias, restrictive heart failure, and accumulation of desmin-
DE reactive deposits in cardiac and skeletal muscle cells.
SY Arrhythmogenic right ventricular cardiomyopathy 7.
SY ARVC7.
SY ARVD7.
SY Autosomal dominant inclusion body myopathy 1.
SY CDCD3.
SY CMD1F and LGMD1D.
SY Desminopathy primary.
SY Desmin-related myopathy.
SY Desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy.
SY Dilated cardiomyopathy 1F and limb-girdle muscular dystrophy type 1D.
SY Dilated cardiomyopathy with conduction defect and muscular dystrophy.
SY DRM.
SY Familial arrhythmogenic right ventricular dysplasia 7.
SY LGMD2R.
SY Limb-girdle muscular dystrophy 2R.
SY MFM desmin-related.
SY Muscular dystrophy, limb-girdle, type 2R.
SY Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy.
SY Myopathy myofibrillar desmin-related.
DR MIM; 601419; phenotype.
DR MedGen; C1832370.
DR MeSH; D020914.
KW KW-0911:Desmin-related myopathy.
//
ID Myopathy, myofibrillar, 10.
AC DI-05925
AR MFM10.
DE A form of myofibrillar myopathy, a group of chronic neuromuscular
DE disorders characterized at ultrastructural level by disintegration of
DE the sarcomeric Z disk and myofibrils, and replacement of the normal
DE myofibrillar markings by small dense granules, or larger hyaline
DE masses, or amorphous material. MFM10 is an autosomal recessive
DE disorder characterized by muscle pain, cramping, exercise fatigue, and
DE progressive muscle rigidity.
DR MIM; 619040; phenotype.
DR MedGen; CN293343.
DR MeSH; D020914.
KW KW-1060:Myofibrillar myopathy.
//
ID Myopathy, myofibrillar, 11.
AC DI-06043
AR MFM11.
DE A form of myofibrillar myopathy, a group of chronic neuromuscular
DE disorders characterized at ultrastructural level by disintegration of
DE the sarcomeric Z disk and myofibrils, and replacement of the normal
DE myofibrillar markings by small dense granules, or larger hyaline
DE masses, or amorphous material. MFM11 is an autosomal recessive form
DE characterized by onset of slowly progressive proximal muscle weakness
DE in the first decade of life. More variable features may include
DE decreased respiratory forced vital capacity, variable cardiac
DE features, and calf hypertrophy. Skeletal muscle biopsy shows myopathic
DE changes with variation in fiber size, type 1 fiber predominance,
DE centralized nuclei, eccentrically placed core-like lesions, and
DE distortion of the myofibrillary pattern with Z-line streaming and
DE abnormal myofibrillar aggregates or inclusions.
DR MIM; 619178; phenotype.
DR MedGen; CN295281.
DR MeSH; D020914.
KW KW-1060:Myofibrillar myopathy.
//
ID Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy.
AC DI-06176
AR MFM12.
DE A form of myofibrillar myopathy, a group of chronic neuromuscular
DE disorders characterized at ultrastructural level by disintegration of
DE the sarcomeric Z disk and myofibrils, and replacement of the normal
DE myofibrillar markings by small dense granules, or larger hyaline
DE masses, or amorphous material. MFM12 is an autosomal recessive, severe
DE form characterized by progressive myopathy with onset shortly after
DE birth, tremor or clonus at birth, and cardiomyopathy usually leading
DE to death by 6 months of age. Skeletal and cardiac muscle tissues show
DE fiber-type disproportion with small type I and normal sized type II
DE fibers, and myofibrillar disorganization.
DR MIM; 619424; phenotype.
DR MedGen; CN300317.
DR MeSH; D020914.
KW KW-1060:Myofibrillar myopathy.
//
ID Myopathy, myofibrillar, 2.
AC DI-01179
AR MFM2.
DE A form of myofibrillar myopathy, a group of chronic neuromuscular
DE disorders characterized at ultrastructural level by disintegration of
DE the sarcomeric Z disk and myofibrils, and replacement of the normal
DE myofibrillar markings by small dense granules, or larger hyaline
DE masses, or amorphous material. MFM2 is characterized by weakness of
DE the proximal and distal limb muscles, weakness of the neck,
DE velopharynx and trunk muscles, hypertrophic cardiomyopathy, and
DE cataract in a subset of patients.
SY Alpha-B crystallinopathy.
SY Alpha-B crystallinopathy with cataract.
SY Desmin-related myopathy with cataract.
SY MFM alpha-B crystallin-related.
SY Myofibrillar myopathy alpha-B crystallin-related.
SY Myofibrillar myopathy with or without cataract and/or cardiomyopathy.
SY Myopathy cardioskeletal desmin-related with cataract.
SY Myopathy desmin-related associated with mutation in the CRYAB gene.
DR MIM; 608810; phenotype.
DR MedGen; C1837317.
DR MeSH; D020914.
KW KW-1060:Myofibrillar myopathy.
//
ID Myopathy, myofibrillar, 3.
AC DI-02022
AR MFM3.
DE A form of myofibrillar myopathy, a group of chronic neuromuscular
DE disorders characterized at ultrastructural level by disintegration of
DE the sarcomeric Z disk and myofibrils, and replacement of the normal
DE myofibrillar markings by small dense granules, or larger hyaline
DE masses, or amorphous material. MFM3 is characterized by progressive
DE skeletal muscle weakness greater distally than proximally, tight heel
DE cords, hyporeflexia, cardiomyopathy and peripheral neuropathy in some
DE patients. Affected muscle exhibits disorganization and streaming of
DE the Z-line, presence of large hyaline structures, excessive
DE accumulation of myotilin and other ectopically expressed proteins and
DE prominent congophilic deposits.
SY LGMD1.
SY LGMD1A.
SY Limb-girdle muscular dystrophy 1A.
SY MFM myotilin-related.
SY Muscular dystrophy, limb-girdle, type 1.
SY Muscular dystrophy, limb-girdle, type 1A.
SY Myopathy myofibrillar myotylin-related.
SY Myotilinopathy.
DR MIM; 609200; phenotype.
DR MedGen; C1836607.
DR MeSH; D020914.
KW KW-1060:Myofibrillar myopathy.
//
ID Myopathy, myofibrillar, 4.
AC DI-02467
AR MFM4.
DE A form of myofibrillar myopathy, a group of chronic neuromuscular
DE disorders characterized at ultrastructural level by disintegration of
DE the sarcomeric Z disk and myofibrils, and replacement of the normal
DE myofibrillar markings by small dense granules, or larger hyaline
DE masses, or amorphous material. MFM4 is characterized by distal and
DE proximal muscle weakness with signs of cardiomyopathy and neuropathy.
DR MIM; 609452; phenotype.
DR MedGen; C1836155.
DR MeSH; D020914.
KW KW-1060:Myofibrillar myopathy.
//
ID Myopathy, myofibrillar, 5.
AC DI-01208
AR MFM5.
DE A form of myofibrillar myopathy, a group of chronic neuromuscular
DE disorders characterized at ultrastructural level by disintegration of
DE the sarcomeric Z disk and myofibrils, and replacement of the normal
DE myofibrillar markings by small dense granules, or larger hyaline
DE masses, or amorphous material. MFM5 is characterized by onset in
DE adulthood, clinical features of a limb-girdle myopathy, and focal
DE myofibrillar destruction.
SY Autosomal dominant filaminopathy.
SY MFM filamin C-related.
SY Myopathy myofibrillar filamin C-related.
DR MIM; 609524; phenotype.
DR MedGen; C1836050.
DR MeSH; D020914.
KW KW-1060:Myofibrillar myopathy.
//
ID Myopathy, myofibrillar, 6.
AC DI-02541
AR MFM6.
DE A form of myofibrillar myopathy, a group of chronic neuromuscular
DE disorders characterized at ultrastructural level by disintegration of
DE the sarcomeric Z disk and myofibrils, and replacement of the normal
DE myofibrillar markings by small dense granules, or larger hyaline
DE masses, or amorphous material. MFM6 is characterized by early-onset of
DE severe, progressive, diffuse muscle weakness associated with
DE cardiomyopathy, severe respiratory insufficiency during adolescence,
DE and a rigid spine in some patients.
SY MFM BAG3-related.
SY Muscular dystrophy Selcen type.
SY Myopathy myofibrillar BAG3-related.
DR MIM; 612954; phenotype.
DR MedGen; C2751831.
DR MeSH; D020914.
KW KW-1060:Myofibrillar myopathy.
//
ID Myopathy, myofibrillar, 7.
AC DI-04834
AR MFM7.
DE A form of myofibrillar myopathy, a group of chronic neuromuscular
DE disorders characterized at ultrastructural level by disintegration of
DE the sarcomeric Z disk and myofibrils, and replacement of the normal
DE myofibrillar markings by small dense granules, or larger hyaline
DE masses, or amorphous material. MFM7 is an autosomal recessive form,
DE clinically characterized by early childhood onset of slowly
DE progressive muscle weakness and mild atrophy primarily affecting the
DE lower limbs, associated with joint contractures.
DR MIM; 617114; phenotype.
DR MedGen; CN238489.
DR MeSH; D020914.
KW KW-1060:Myofibrillar myopathy.
//
ID Myopathy, myofibrillar, 8.
AC DI-04890
AR MFM8.
DE A form of myofibrillar myopathy, a group of chronic neuromuscular
DE disorders characterized at ultrastructural level by disintegration of
DE the sarcomeric Z disk and myofibrils, and replacement of the normal
DE myofibrillar markings by small dense granules, or larger hyaline
DE masses, or amorphous material. MFM8 is an autosomal recessive form,
DE clinically characterized by slowly progressive symmetrical weakness
DE affecting both proximal and distal muscles, with normal to moderately
DE elevated creatine kinase. Mild facial weakness, a high palate, nasal
DE speech, and swallowing difficulties are typical features, mild
DE restrictive lung disease is common, and late-onset cardiac involvement
DE may be present.
DR MIM; 617258; phenotype.
DR MedGen; CN239575.
DR MeSH; D020914.
KW KW-1060:Myofibrillar myopathy.
//
ID Myopathy, myofibrillar, 9, with early respiratory failure.
AC DI-01727
AR MFM9.
DE An autosomal dominant myopathy characterized by adulthood onset of
DE weakness in proximal, distal, axial and respiratory muscles. Pelvic
DE girdle weakness, foot drop and neck weakness are the main symptoms at
DE onset, but ultimately the weakness usually involves the proximal
DE compartment of both upper and lower limbs. Additional features include
DE variable degrees of Achilles tendon contractures, spinal rigidity and
DE muscle hypertrophy. Respiratory involvement often leads to requirement
DE for non-invasive ventilation support.
SY Edstrom myopathy.
SY Hereditary myopathy with early respiratory failure.
SY HMERF.
SY MPRM.
SY Myopathy, distal, with early respiratory failure, autosomal dominant.
SY Myopathy, proximal, with early respiratory muscle involvement.
DR MIM; 603689; phenotype.
DR MedGen; C1863599.
DR MeSH; D009135.
KW KW-1060:Myofibrillar myopathy.
//
ID Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related.
AC DI-03083
AR MFMFIH-CRYAB.
DE A form of myofibrillar myopathy, a group of chronic neuromuscular
DE disorders characterized at ultrastructural level by disintegration of
DE the sarcomeric Z disk and myofibrils, and replacement of the normal
DE myofibrillar markings by small dense granules, or larger hyaline
DE masses, or amorphous material. MFMFIH-CRYAB has onset in the first
DE weeks of life after a normal neonatal period. Affected infants show
DE rapidly progressive muscular rigidity of the trunk and limbs
DE associated with increasing respiratory difficulty resulting in death
DE before age 3 years.
SY MFM fatal infantile hypertonic alpha-B crystallin-related.
DR MIM; 613869; phenotype.
DR MedGen; C3151236.
DR MeSH; D020914.
KW KW-1060:Myofibrillar myopathy.
//
ID Myopathy, myosin storage, autosomal dominant.
AC DI-02021
AR MSMA.
DE A rare congenital myopathy characterized by subsarcolemmal hyalinized
DE bodies in type 1 muscle fibers.
SY Hyaline body myopathy autosomal dominant.
DR MIM; 608358; phenotype.
DR MedGen; C1842160.
DR MeSH; D009135.
//
ID Myopathy, myosin storage, autosomal recessive.
AC DI-04466
AR MSMB.
DE An autosomal recessive form of myosin storage myopathy, a muscle
DE disease characterized by subsarcolemmal accumulation of hyalinized
DE bodies in type 1 muscle fibers. MSMB clinical features include muscle
DE weakness, type II respiratory failure and cardiac failure, due to
DE hypertrophic cardiomyopathy.
SY Myopathy, hyaline body, autosomal recessive.
DR MIM; 255160; phenotype.
DR MedGen; C1850709.
DR MeSH; D009135.
//
ID Myopathy, proximal, with ophthalmoplegia.
AC DI-01816
AR MYPOP.
DE A muscular disorder characterized by mild-to-moderate muscle weakness,
DE ophthalmoplegia, and contractures at birth in some patients. Muscle
DE biopsies from patients show predominance of type 1 fibers and small or
DE absent type 2A fibers. The disease is non-progressive or it progresses
DE very slowly. Inheritance is autosomal dominant or recessive.
SY IBM3.
SY Inclusion body myopathy 3.
SY Inclusion body myopathy 3, autosomal dominant.
SY Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles.
SY Proximal myopathy and ophthalmoplegia.
DR MIM; 605637; phenotype.
DR MedGen; C1854106.
DR MeSH; D003286.
DR MeSH; D009886.
DR MeSH; D018979.
//
ID Myopathy, scapulohumeroperoneal.
AC DI-04672
AR SHPM.
DE An autosomal dominant muscular disorder characterized by progressive
DE muscle weakness with initial scapulo-humeral-peroneal and distal
DE distribution. Over time, muscle weakness progresses to proximal muscle
DE groups. Clinical characteristics include scapular winging, mild lower
DE facial weakness, foot drop due to foot eversion and dorsiflexion
DE weakness, and selective muscle atrophy. Age at onset and disease
DE progression are variable.
DR MIM; 616852; phenotype.
DR MedGen; CN235510.
DR MeSH; D009135.
//
ID Myopathy, tubular aggregate, 1.
AC DI-03765
AR TAM1.
DE A rare congenital myopathy characterized by regular arrays of membrane
DE tubules on muscle biopsies without additional histopathological
DE hallmarks. Tubular aggregates in muscle are structures of variable
DE appearance consisting of an outer tubule containing either one or more
DE microtubule-like structures or amorphous material. They may occur in a
DE variety of circumstances, including inherited myopathies, alcohol- and
DE drug-induced myopathies, exercise-induced cramps or muscle weakness.
SY TAM.
SY Tubular aggregate myopathy.
DR MIM; 160565; phenotype.
DR MedGen; C0410207.
DR MeSH; D020914.
//
ID Myopathy, tubular aggregate, 2.
AC DI-04147
AR TAM2.
DE A rare congenital myopathy characterized by regular arrays of membrane
DE tubules on muscle biopsies without additional histopathological
DE hallmarks. Tubular aggregates in muscle are structures of variable
DE appearance consisting of an outer tubule containing either one or more
DE microtubule-like structures or amorphous material. TAM2 patients have
DE myopathy and pupillary abnormalities.
DR MIM; 615883; phenotype.
DR MedGen; CN189718.
DR MeSH; D020914.
//
ID Myopathy, vacuolar, with CASQ1 aggregates.
AC DI-04342
AR VMCQA.
DE An autosomal dominant mild muscle disorder characterized by adult
DE onset of muscle cramping and weakness as well as increased levels of
DE serum creatine kinase. The disorder is not progressive, and some
DE patients may be asymptomatic.
DR MIM; 616231; phenotype.
DR MedGen; CN226298.
DR MeSH; D020914.
//
ID Myopathy, X-linked, with excessive autophagy.
AC DI-02454
AR MEAX.
DE A muscle disorder characterized by childhood early onset of a slowly
DE progressive proximal limb muscle weakness (especially in legs) and
DE elevation of serum creatine kinase, without evidence of cardiac,
DE respiratory or central nervous system involvement. Histopathological
DE analysis reveals diseased muscle fibers that are not necrotic, but
DE show abnormal autophagic vacuolation as a manifestation of excessive
DE autophagic activity in skeletal muscle cells.
SY XMEA.
DR MIM; 310440; phenotype.
DR MedGen; C1839615.
DR MeSH; D009135.
//
ID Myopathy, X-linked, with postural muscle atrophy.
AC DI-02455
AR XMPMA.
DE A progressive muscular dystrophy with onset in adulthood. Affected
DE individuals develop a proximal myopathy characterized by specific
DE atrophy of postural muscles, limited neck flexion, bent spine,
DE contractures of the Achilles tendon, respiratory problems, and
DE cardiomyopathy. Patients may show muscle hypertrophy in the early
DE stages of the disorder.
DR MIM; 300696; phenotype.
DR MedGen; C2678055.
DR MeSH; D009136.
//
ID Myopia 21, autosomal dominant.
AC DI-03177
AR MYP21.
DE A refractive error of the eye, in which parallel rays from a distant
DE object come to focus in front of the retina, vision being better for
DE near objects than for far.
DR MIM; 614167; phenotype.
DR MedGen; C3279997.
DR MeSH; D009216.
//
ID Myopia 22, autosomal dominant.
AC DI-03878
AR MYP22.
DE A refractive error of the eye, in which parallel rays from a distant
DE object come to focus in front of the retina, vision being better for
DE near objects than for far.
DR MIM; 615420; phenotype.
DR MedGen; C3809464.
DR MedGen; CN180085.
DR MeSH; D009216.
//
ID Myopia 23, autosomal recessive.
AC DI-03893
AR MYP23.
DE A refractive error of the eye, in which parallel rays from a distant
DE object come to focus in front of the retina, vision being better for
DE near objects than for far.
DR MIM; 615431; phenotype.
DR MedGen; C3809482.
DR MedGen; CN180161.
DR MeSH; D009216.
//
ID Myopia 24, autosomal dominant.
AC DI-04185
AR MYP24.
DE A refractive error of the eye, in which parallel rays from a distant
DE object come to focus in front of the retina, vision being better for
DE near objects than for far.
DR MIM; 615946; phenotype.
DR MedGen; CN207695.
DR MeSH; D009216.
//
ID Myopia 25, autosomal dominant.
AC DI-04910
AR MYP25.
DE A refractive error of the eye, in which parallel rays from a distant
DE object come to focus in front of the retina, vision being better for
DE near objects than for far.
DR MIM; 617238; phenotype.
DR MedGen; CN239544.
DR MeSH; D009216.
//
ID Myopia 26, X-linked, female-limited.
AC DI-05150
AR MYP26.
DE A form of myopia, a refractive error of the eye, in which parallel
DE rays from a distant object come to focus in front of the retina,
DE vision being better for near objects than for far. MYP26 is
DE characterized by typical tigroid fundus changes commonly seen in early
DE onset high myopia, and an unusual pattern of X-linked female-limited
DE inheritance.
DR MIM; 301010; phenotype.
DR MedGen; CN708878.
DR MeSH; D009216.
//
ID Myopia 27, autosomal dominant.
AC DI-05775
AR MYP27.
DE A form of myopia, a refractive error of the eye, in which parallel
DE rays from a distant object come to focus in front of the retina,
DE vision being better for near objects than for far. MYP27 patients are
DE affected by early-onset high myopia with increased axial lengths.
DE Fundus changes include optic nerve head crescent and tigroid
DE appearance of the posterior retina.
DR MIM; 618827; phenotype.
DR MedGen; CN263398.
DR MeSH; D009216.
//
ID Myopia 28, autosomal recessive.
AC DI-06357
AR MYP28.
DE A form of myopia, a refractive error of the eye, in which parallel
DE rays from a distant object come to focus in front of the retina,
DE vision being better for near objects than for far. MYP28 patients are
DE affected by early-onset high myopia in the first decade of life.
DE Retinal detachment may occur, and early-onset cataract has been
DE reported.
DR MIM; 619781; phenotype.
DR MedGen; CN306975.
DR MeSH; D009216.
//
ID Myopia 6.
AC DI-03792
AR MYP6.
DE A refractive error of the eye, in which parallel rays from a distant
DE object come to focus in front of the retina, vision being better for
DE near objects than for far.
DR MIM; 608908; phenotype.
DR MedGen; C1837148.
DR MeSH; D009216.
//
ID Myopia, high, with cataract and vitreoretinal degeneration.
AC DI-03289
AR MCVD.
DE A disorder characterized by severe myopia with variable expressivity
DE of cataract and vitreoretinal degeneration. Some patients manifest
DE lens subluxation, lens instability and retinal detachment.
DR MIM; 614292; phenotype.
DR MedGen; C3280346.
DR MeSH; D009216.
//
ID Myosclerosis autosomal recessive.
AC DI-01246
AR MYOSAR.
DE A condition characterized by chronic inflammation of skeletal muscle
DE with hyperplasia of the interstitial connective tissue. The clinical
DE picture includes slender muscles with firm 'woody' consistency and
DE restriction of movement of many joints because of muscle contractures.
SY Congenital myosclerosis of Lowenthal.
SY Myosclerotic myopathy.
DR MIM; 255600; phenotype.
DR MedGen; C1850671.
DR MeSH; D003095.
DR MeSH; D003286.
//
ID Myotonia congenita, autosomal dominant.
AC DI-01216
AR MCAD.
DE A non-dystrophic skeletal muscle disorder characterized by muscle
DE stiffness and an inability of the muscle to relax after voluntary
DE contraction. Most patients have symptom onset in the legs, which later
DE progresses to the arms, neck, and facial muscles. Many patients show
DE marked hypertrophy of the lower limb muscles. The autosomal dominant
DE form (Thomsen disease) is less common and less severe than the
DE autosomal recessive one (Becker disease). A milder form of autosomal
DE dominant myotonia is characterized by isolated myotonia without muscle
DE weakness, hypotrophy, or hypertrophy (myotonia levior).
SY Myotonia levior.
SY THD.
SY Thomsen disease.
DR MIM; 160800; phenotype.
DR MedGen; C0270959.
DR MedGen; C2936781.
DR MeSH; D009224.
//
ID Myotonia congenita, autosomal recessive.
AC DI-01247
AR MCAR.
DE A non-dystrophic skeletal muscle disorder characterized by muscle
DE stiffness and an inability of the muscle to relax after voluntary
DE contraction. Most patients have symptom onset in the legs, which later
DE progresses to the arms, neck, and facial muscles. Many patients show
DE marked hypertrophy of the lower limb muscles. The autosomal recessive
DE form (Becker disease) is more severe than the autosomal dominant one
DE (Thomsen disease).
SY Becker disease.
SY Generalized myotonia.
DR MIM; 255700; phenotype.
DR MedGen; C0751360.
DR MeSH; D009224.
//
ID Myotonia SCN4A-related.
AC DI-00796
AR MYOSCN4A.
DE A phenotypically highly variable myotonia aggravated by potassium
DE loading, and sometimes by cold. Myotonia is characterized by sustained
DE muscle tensing that prevents muscles from relaxing normally. It causes
DE muscle stiffness that can interfere with movement. In some people the
DE stiffness is very mild, while in other cases it may be severe enough
DE to interfere with walking, running, and other activities of daily
DE life. Myotonia SCN4A-related includes myotonia permanens and myotonia
DE fluctuans. In myotonia permanens, the myotonia is generalized and
DE there is a hypertrophy of the muscle, particularly in the neck and the
DE shoulder. Attacks of severe muscle stiffness of the thoracic muscles
DE may be life threatening due to impaired ventilation. In myotonia
DE fluctuans, the muscle stiffness may fluctuate from day to day,
DE provoked by exercise.
SY Myotonia congenita acetazolamide-responsive.
SY Myotonia congenita atypical.
SY Myotonia fluctuans.
SY Myotonia permanens.
SY Myotonia potassium-aggravated.
SY SCM.
SY Sodium channel muscle disease.
DR MIM; 608390; phenotype.
DR MedGen; C0752355.
DR MedGen; C2931826.
DR MedGen; C3149517.
DR MeSH; D020967.
//
ID Myxoid liposarcoma.
AC DI-03715
AR MXLIPO.
DE A soft tissue tumor that tends to occur in the limbs (especially the
DE thigh) of patients ranging in age from 35 to 55 years. It is defined
DE by the presence of a hypocellular spindle cell proliferation set in a
DE myxoid background, often with mucin pooling. Lipoblasts tend to be
DE small and often monovacuolated and to cluster around vessels or at the
DE periphery of the lesion.
DR MIM; 613488; phenotype.
DR MedGen; C0206634.
DR MeSH; D018208.
//
ID N-acetylaspartate deficiency.
AC DI-03149
AR NACED.
DE A metabolic disorder resulting in truncal ataxia, marked developmental
DE delay, seizures, and secondary microcephaly.
SY Hypoacetylaspartia.
SY NAA deficiency.
DR MIM; 614063; phenotype.
DR MedGen; C3279716.
DR MeSH; D000592.
//
ID N-acetylglutamate synthase deficiency.
AC DI-02025
AR NAGSD.
DE Rare autosomal recessively inherited metabolic disorder leading to
DE severe neonatal or late-onset hyperammonemia without increased
DE excretion of orotic acid. Clinical symptoms are somnolence, tachypnea,
DE feeding difficulties, a severe neurologic presentation characterized
DE by uncontrollable movements, developmental delay, visual impairment,
DE failure to thrive and hyperammonemia precipitated by the introduction
DE of high-protein diet or febrile illness.
SY Hyperammonemia due to N-acetylglutamate synthetase deficiency.
SY N-acetylglutamate synthetase deficiency.
SY NAGS deficiency.
DR MIM; 237310; phenotype.
DR MedGen; C0268543.
DR MeSH; D056806.
//
ID N-terminal acetyltransferase deficiency.
AC DI-03266
AR NATD.
DE An enzymatic deficiency resulting in postnatal growth failure with
DE severe delays and dysmorphic features. It is clinically characterized
DE by wrinkled forehead, prominent eyes, widely opened anterior and
DE posterior fontanels, downsloping palpebral fissures, thickened lids,
DE large ears, flared nares, hypoplastic alae, short columella,
DE protruding upper lip, and microretrognathia. There are also delayed
DE closing of fontanels and broad great toes. Skin is characterized by
DE redundancy or laxity with minimal subcutaneous fat, cutaneous
DE capillary malformations, and very fine hair and eyebrows. Death
DE results from cardiogenic shock following arrhythmia.
SY Ogden syndrome.
SY OGDNS.
DR MIM; 300855; phenotype.
DR MedGen; C3275447.
DR MedGen; CN078801.
DR MeSH; D001848.
//
ID Nabais Sa-de Vries syndrome 1.
AC DI-05805
AR NSDVS1.
DE An autosomal dominant disorder characterized by global developmental
DE delay, impaired intellectual development, speech delay, and variable
DE behavioral abnormalities. Affected individuals show congenital
DE microcephaly and dysmorphic facial features, including round face,
DE small palpebral fissures, highly arched eyebrows, and short nose.
SY Nabais Sa-de Vries syndrome, type 1.
SY NEDMIDF.
SY Neurodevelopmental disorder with microcephaly and dysmorphic facies.
DR MIM; 618828; phenotype.
DR MedGen; CN272909.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Nabais Sa-de Vries syndrome 2.
AC DI-05806
AR NSDVS2.
DE An autosomal dominant disorder characterized by global developmental
DE delay apparent from birth, impaired intellectual development, speech
DE delay, dysmorphic facial features, and additional anomalies including
DE congenital heart defects, sleep disturbances, hypotonia, and variable
DE endocrine abnormalities.
SY Nabais Sa-de Vries syndrome, type 2.
SY NEDMACE.
SY Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies.
DR MIM; 618829; phenotype.
DR MedGen; CN272910.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Naegeli-Franceschetti-Jadassohn syndrome.
AC DI-00797
AR NFJS.
DE A rare autosomal dominant form of ectodermal dysplasia. The cardinal
DE features are absence of dermatoglyphics (fingerprints), reticular
DE cutaneous hyperpigmentation (starting at about the age of 2 years
DE without a preceding inflammatory stage), palmoplantar keratoderma,
DE hypohidrosis with diminished sweat gland function and discomfort
DE provoked by heat, nail dystrophy, and tooth enamel defects.
SY Naegeli syndrome.
SY NFJ syndrome.
DR MIM; 161000; phenotype.
DR MedGen; C0343111.
DR MeSH; D004476.
DR MeSH; D007007.
DR MeSH; D007645.
KW KW-0038:Ectodermal dysplasia.
KW KW-1007:Palmoplantar keratoderma.
//
ID Nail disorder, non-syndromic congenital, 1.
AC DI-03199
AR NDNC1.
DE An autosomal recessive nail disorder characterized by a variable
DE degree of onychauxis (thick nails), hyponychia, and onycholysis of all
DE nails, with claw-shaped fingernails in some individuals. No other
DE anomalies of ectodermal tissues, including hair, teeth, sweat glands,
DE or skin, are noted, and individuals with dysplastic nails have normal
DE hearing and normal psychomotor development.
SY Claw-shaped nails.
SY Nail disorder, non-syndromic congenital, 10.
SY NDNC10.
SY Onychauxis hyponychia and onycholysis.
DR MIM; 161050; phenotype.
DR MedGen; C3279974.
DR MeSH; D054039.
//
ID Nail disorder, non-syndromic congenital, 3.
AC DI-03200
AR NDNC3.
DE A nail disorder characterized by a white appearance of the nail plate
DE (true leukonychia), the nail bed (pseudoleukonychia), or neither
DE (apparent leukonychia). Leukonychia may involve all of the nail
DE (leukonychia totalis) or only part of the nail (leukonychia
DE partialis), or can appear as one or more transverse bands (leukonychia
DE striata) or white spots (leukonychia punctata).
SY Leukonychia partialis.
SY Leukonychia punctata.
SY Leukonychia striatus.
SY Leukonychia totalis.
SY Leukonychia totalis and/or partialis.
SY Porcelain nails.
DR MIM; 151600; phenotype.
DR MedGen; C0263532.
DR MedGen; C0544855.
DR MedGen; C3276977.
DR MeSH; D009260.
//
ID Nail disorder, non-syndromic congenital, 4.
AC DI-01185
AR NDNC4.
DE A nail disorder characterized by congenital anonychia or its milder
DE phenotypic variant hyponychia. Anonychia/hyponychia is the absence or
DE severe hypoplasia of all fingernails and toenails without significant
DE bone anomalies.
SY Anonychia/hyponychia congenita.
SY Anonychia congenita totalis.
SY Hyponychia congenita.
DR MIM; 206800; phenotype.
DR MedGen; C0265998.
DR MedGen; C3277900.
DR MeSH; D009260.
//
ID Nail disorder, non-syndromic congenital, 8.
AC DI-01844
AR NDNC8.
DE A nail disorder characterized by isolated toenail dystrophy. The nail
DE changes are most severe in the great toes and consist of the nail
DE plate being buried in the nail bed with a deformed and narrow free
DE edge.
SY Isolated toenail dystrophy.
SY Isolated toenail dystrophy without skin fragility.
DR MIM; 607523; phenotype.
DR MedGen; C1843761.
DR MeSH; D009260.
//
ID Nail-patella syndrome.
AC DI-02026
AR NPS.
DE Disease that cause abnormal skeletal patterning and renal dysplasia.
SY Onychoosteodysplasia.
DR MIM; 161200; phenotype.
DR MedGen; C0027341.
//
ID Nance-Horan syndrome.
AC DI-02027
AR NHS.
DE Rare X-linked disorder characterized by congenital cataracts, dental
DE anomalies, dysmorphic features, and, in some cases, intellectual
DE disability. Distinctive dental anomalies are seen in affected males,
DE including supernumerary incisors and crown shaped permanent teeth.
DE Characteristic facial features are anteverted pinnae, long face, and
DE prominent nasal bridge and nose. Carrier females display milder
DE variable symptoms of disease with lens opacities often involving the
DE posterior Y sutures, and on occasion dental anomalies and the
DE characteristic facial features described.
SY Cataract-dental syndrome.
DR MIM; 302350; phenotype.
DR MedGen; C0796085.
//
ID Nanophthalmos 2.
AC DI-02028
AR NNO2.
DE Rare autosomal recessive disorder of eye development characterized by
DE extreme hyperopia and small functional eyes.
SY Nanophthalmia 2.
SY Nanophthalmos, autosomal recessive.
DR MIM; 609549; phenotype.
DR MedGen; C1836006.
DR MeSH; D008850.
//
ID Nanophthalmos 4.
AC DI-04209
AR NNO4.
DE A rare disorder of eye development characterized by extreme hyperopia
DE (farsightedness) and small functional eyes. The cornea and lens are
DE normal in size and shape. Hyperopia occurs because insufficient growth
DE along the visual axis places these lensing components too close to the
DE retina. Nanophthalmic eyes show considerable thickening of both the
DE choroidal vascular bed and scleral coat, which provide nutritive and
DE structural support for the retina.
SY Nanophthalmia 4.
DR MIM; 615972; phenotype.
DR MedGen; CN218525.
DR MeSH; D008850.
//
ID Narcolepsy 1.
AC DI-02029
AR NRCLP1.
DE Neurological disabling sleep disorder, characterized by excessive
DE daytime sleepiness, sleep fragmentation, symptoms of abnormal rapid-
DE eye-movement (REM) sleep, cataplexy, hypnagogic hallucinations, and
DE sleep paralysis. Cataplexy is a sudden loss of muscle tone triggered
DE by emotions, which is the most valuable clinical feature used to
DE diagnose narcolepsy. Human narcolepsy is primarily a sporadically
DE occurring disorder but familial clustering has been observed.
SY Narcolepsy-cataplexy syndrome.
SY Narcoleptic syndrome 1.
DR MIM; 161400; phenotype.
DR MedGen; C0007384.
DR MedGen; C1834372.
DR MeSH; D009290.
//
ID Narcolepsy 7.
AC DI-03240
AR NRCLP7.
DE Neurological disabling sleep disorder, characterized by excessive
DE daytime sleepiness, sleep fragmentation, symptoms of abnormal rapid-
DE eye-movement (REM) sleep, cataplexy, hypnagogic hallucinations, and
DE sleep paralysis. Cataplexy is a sudden loss of muscle tone triggered
DE by emotions, which is the most valuable clinical feature used to
DE diagnose narcolepsy. Human narcolepsy is primarily a sporadically
DE occurring disorder but familial clustering has been observed.
SY Narcolepsy-cataplexy syndrome 7.
SY Narcoleptic syndrome 7.
DR MIM; 614250; phenotype.
DR MedGen; C3280266.
DR MeSH; D009290.
//
ID Nasopharyngeal carcinoma, 3.
AC DI-04806
AR NPCA3.
DE A form of nasopharyngeal carcinoma, a malignant neoplasm that
DE originates in the nasopharyngeal epithelium and includes 4 subtypes:
DE keratinizing squamous cell, non-keratinizing, basaloid squamous cell,
DE and papillary adenocarcinoma.
DR MIM; 617075; phenotype.
DR MedGen; CN237822.
DR MeSH; D009303.
//
ID Naxos disease.
AC DI-00798
AR NXD.
DE An autosomal recessive disorder characterized by the association of
DE diffuse non-epidermolytic palmoplantar keratoderma with woolly hair
DE and cardiac abnormalities such as dilated cardiomyopathy and
DE arrhythmogenic right ventricular dysplasia.
SY Cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities.
SY Keratosis palmoplantaris with arrythmogenic cardiomyopathy.
SY Mal de Naxos.
SY Palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair.
SY Woolly hair, palmoplantar keratoderma, and cardiac abnormalities.
DR MIM; 601214; phenotype.
DR MedGen; C1832600.
DR MeSH; D006201.
DR MeSH; D007645.
DR MeSH; D019571.
KW KW-0122:Cardiomyopathy.
KW KW-1007:Palmoplantar keratoderma.
//
ID Nemaline myopathy 1.
AC DI-02032
AR NEM1.
DE A form of nemaline myopathy with autosomal dominant or recessive
DE inheritance. Nemaline myopathies are disorders characterized by muscle
DE weakness of varying onset and severity, and abnormal thread-like or
DE rod-shaped structures in muscle fibers on histologic examination.
DE Autosomal dominant NEM1 is characterized by a moderate phenotype with
DE onset between birth and early second decade of life. Weakness is
DE diffuse and symmetric with slow progression often with need for a
DE wheelchair in adulthood. The autosomal recessive form has onset at
DE birth with moderate to severe hypotonia and diffuse weakness. In the
DE most severe cases, death can occur before 2 years. Less severe cases
DE have delayed major motor milestones, and these patients may walk, but
DE often need a wheelchair before 10 years.
SY Nemaline myopathy 1 autosomal dominant or recessive.
DR MIM; 609284; phenotype.
DR MedGen; C1836448.
DR MeSH; D017696.
KW KW-1057:Nemaline myopathy.
//
ID Nemaline myopathy 10.
AC DI-04292
AR NEM10.
DE An autosomal recessive severe form of nemaline myopathy. Nemaline
DE myopathies are muscular disorders characterized by muscle weakness of
DE varying severity and onset, and abnormal thread-like or rod-shaped
DE structures in muscle fibers on histologic examination. NEM10 is
DE characterized by early-onset generalized muscle weakness and hypotonia
DE with respiratory insufficiency and feeding difficulties. Additional
DE features include arthrogryposis or congenital contractures,
DE ophthalmoplegia, a history of prematurity, reduced fetal movements,
DE and polyhydramnios. Most patients die of respiratory failure in early
DE infancy.
DR MIM; 616165; phenotype.
DR MedGen; CN224985.
DR MeSH; D017696.
KW KW-1057:Nemaline myopathy.
//
ID Nemaline myopathy 11.
AC DI-04947
AR NEM11.
DE An autosomal recessive form of nemaline myopathy. Nemaline myopathies
DE are muscular disorders characterized by muscle weakness of varying
DE severity and onset, and abnormal thread-like or rod-shaped structures
DE in muscle fibers on histologic examination. NEM11 is characterized by
DE slowly progressive muscle weakness and atrophy, mainly affecting the
DE lower limbs and neck. Some patients may have mild cardiac or
DE respiratory involvement, but they do not have respiratory failure.
SY Nemaline myopathy 11, autosomal recessive.
DR MIM; 617336; phenotype.
DR MedGen; CN240509.
DR MeSH; D017696.
KW KW-1057:Nemaline myopathy.
//
ID Nemaline myopathy 2.
AC DI-02033
AR NEM2.
DE A form of nemaline myopathy. Nemaline myopathies are muscular
DE disorders characterized by muscle weakness of varying severity and
DE onset, and abnormal thread-like or rod-shaped structures in muscle
DE fibers on histologic examination.
SY NEB-related nemaline myopathy.
DR MIM; 256030; phenotype.
DR MedGen; C1850569.
DR MedGen; CN187052.
DR MeSH; D017696.
KW KW-1057:Nemaline myopathy.
//
ID Nemaline myopathy 3.
AC DI-02034
AR NEM3.
DE A form of nemaline myopathy. Nemaline myopathies are muscular
DE disorders characterized by muscle weakness of varying severity and
DE onset, and abnormal thread-like or rod-shaped structures in muscle
DE fibers on histologic examination.
SY ACTA1-related nemaline myopathy.
SY Actin myopathy congenital with cores.
SY Nemaline myopathy 3 with intranuclear rods.
DR MIM; 161800; phenotype.
DR MedGen; C1834336.
DR MedGen; C2750536.
DR MedGen; C2750537.
DR MedGen; CN187050.
DR MeSH; D017696.
KW KW-1057:Nemaline myopathy.
//
ID Nemaline myopathy 4.
AC DI-02035
AR NEM4.
DE A form of nemaline myopathy. Nemaline myopathies are muscular
DE disorders characterized by muscle weakness of varying severity and
DE onset, and abnormal thread-like or rod-shaped structures in muscle
DE fibers on histologic examination. Nemaline myopathy type 4 presents
DE from infancy to childhood with hypotonia and moderate-to-severe
DE proximal weakness with minimal or no progression. Major motor
DE milestones are delayed but independent ambulation is usually achieved,
DE although a wheelchair may be needed in later life.
SY TPM2-related nemaline myopathy.
DR MIM; 609285; phenotype.
DR MedGen; C1836447.
DR MeSH; D017696.
KW KW-1057:Nemaline myopathy.
//
ID Nemaline myopathy 5.
AC DI-02036
AR NEM5.
DE A form of nemaline myopathy. Nemaline myopathies are muscular
DE disorders characterized by muscle weakness of varying severity and
DE onset, and abnormal thread-like or rod-shaped structures in muscle
DE fibers on histologic examination. Nemaline myopathy type 5 is a severe
DE and progressive form common among Old Order Amish. Affected infants
DE display tremors with hypotonia and mild contractures of the shoulders
DE and hips. Proximal contractures progressively weaken and a pectus
DE carinatum deformity develops before children die of respiratory
DE insufficiency, usually in the second year.
SY Amish nemaline myopathy.
SY ANM.
SY Nemaline myopathy Amish type.
SY TNNT1-related nemaline myopathy.
DR MIM; 605355; phenotype.
DR MedGen; C1854380.
DR MeSH; D017696.
KW KW-1057:Nemaline myopathy.
//
ID Nemaline myopathy 6.
AC DI-02960
AR NEM6.
DE A form of nemaline myopathy characterized by childhood onset of slowly
DE progressive proximal muscle weakness, exercise intolerance, and slow
DE movements with stiff muscles. Patients are unable to run or correct
DE themselves from falling over.
DR MIM; 609273; phenotype.
DR MedGen; C1836472.
DR MeSH; D017696.
KW KW-1057:Nemaline myopathy.
//
ID Nemaline myopathy 7.
AC DI-02037
AR NEM7.
DE A form of nemaline myopathy. Nemaline myopathies are muscular
DE disorders characterized by muscle weakness of varying severity and
DE onset, and abnormal thread-like or rod-shaped structures in muscle
DE fibers on histologic examination. Nemaline myopathy type 7 presents at
DE birth with hypotonia and generalized weakness. Major motor milestones
DE are delayed, but independent ambulation is achieved.
SY CFL2-related nemaline myopathy.
SY Nemaline myopathy 7, autosomal recessive.
DR MIM; 610687; phenotype.
DR MedGen; C1853154.
DR MeSH; D017696.
KW KW-1057:Nemaline myopathy.
//
ID Nemaline myopathy 8.
AC DI-03802
AR NEM8.
DE A severe form of nemaline myopathy. Nemaline myopathies are muscular
DE disorders characterized by muscle weakness of varying severity and
DE onset, and abnormal thread-like or rod-shaped structures in muscle
DE fibers on histologic examination. NEM8 is characterized by fetal
DE akinesia or hypokinesia, followed by contractures, fractures,
DE respiratory failure, and swallowing difficulties apparent at birth.
DE Most patients die in infancy. Skeletal muscle biopsy shows numerous
DE small nemaline bodies, often with no normal myofibrils.
SY Nemaline myopathy 8, autosomal recessive.
DR MIM; 615348; phenotype.
DR MedGen; C3809209.
DR MedGen; CN178405.
DR MeSH; D017696.
KW KW-1057:Nemaline myopathy.
//
ID Nemaline myopathy 9.
AC DI-04073
AR NEM9.
DE An autosomal recessive form of nemaline myopathy. Nemaline myopathies
DE are muscular disorders characterized by muscle weakness of varying
DE severity and onset, and abnormal thread-like or rod-shaped structures
DE in muscle fibers on histologic examination. NEM9 phenotype is highly
DE variable, ranging from death in infancy due to lack of antigravity
DE movements, to slowly progressive distal muscle weakness with preserved
DE ambulation later in childhood.
DR MIM; 615731; phenotype.
DR MedGen; C3810384.
DR MedGen; CN185876.
DR MeSH; D017696.
KW KW-1057:Nemaline myopathy.
//
ID Nephrogenic syndrome of inappropriate antidiuresis.
AC DI-02040
AR NSIAD.
DE Characterized by an inability to excrete a free water load, with
DE inappropriately concentrated urine and resultant hyponatremia,
DE hypoosmolarity, and natriuresis.
DR MIM; 300539; phenotype.
DR MedGen; C1845202.
//
ID Nephrolithiasis, calcium oxalate.
AC DI-04782
AR CAON.
DE A form of nephrolithiasis, a condition in which urinary
DE supersaturation leads to stone formation in the urinary system.
DE Patients manifest acute renal colic with severe pain originating in
DE the flank. Patients with small, non-obstructing stones or those with
DE staghorn calculi may be asymptomatic. The majority of renal calculi
DE contain calcium. CAON is characterized by calcium oxalate kidney
DE stones.
SY Calcium oxalate urolithiasis.
SY Kidney stones.
SY Urolithiasis, calcium oxalate.
DR MIM; 167030; phenotype.
DR MedGen; C1833683.
DR MeSH; D053040.
//
ID Nephrolithiasis, X-linked recessive, with renal failure.
AC DI-00801
AR XRN.
DE An X-linked recessive renal disease belonging to the 'Dent disease
DE complex', a group of disorders characterized by proximal renal tubular
DE defect, hypercalciuria, nephrocalcinosis and renal insufficiency. The
DE spectrum of phenotypic features is remarkably similar in the various
DE disorders, except for differences in the severity of bone deformities
DE and renal impairment. XRN patients present with hypercalciuria,
DE nephrocalcinosis, renal stones and renal insufficiency. Patients lack
DE urinary acidification defects, rickets, and osteomalacia.
SY Nephrolithiasis 1.
SY NPHL1.
DR MIM; 310468; phenotype.
DR MedGen; C0403720.
DR MeSH; D053040.
//
ID Nephrolithiasis/osteoporosis, hypophosphatemic, 1.
AC DI-01797
AR NPHLOP1.
DE A disease characterized by decreased renal phosphate absorption, renal
DE phosphate wasting, hypophosphatemia, hyperphosphaturia,
DE hypercalciuria, nephrolithiasis and osteoporosis.
DR MIM; 612286; phenotype.
DR MedGen; C2676786.
DR MeSH; D007015.
DR MeSH; D010024.
DR MeSH; D053040.
//
ID Nephrolithiasis/osteoporosis, hypophosphatemic, 2.
AC DI-01798
AR NPHLOP2.
DE A disease characterized by decreased renal phosphate absorption, renal
DE phosphate wasting, hypophosphatemia, hyperphosphaturia,
DE hypercalciuria, nephrolithiasis and osteoporosis.
DR MIM; 612287; phenotype.
DR MedGen; C2676782.
DR MeSH; D007015.
DR MeSH; D010024.
DR MeSH; D053040.
//
ID Nephronophthisis 1.
AC DI-00803
AR NPHP1.
DE An autosomal recessive inherited disease characterized by anemia,
DE polyuria, polydipsia, isosthenuria and death in uremia. Symmetrical
DE destruction of the kidneys involving both tubules and glomeruli
DE occurs. The underlying pathology is a chronic tubulo-interstitial
DE nephropathy with characteristic tubular basement membrane thickening
DE and medullary cyst formation. Associations with extrarenal symptoms,
DE especially ocular lesions, are frequent. The age at death ranges from
DE about 4 to 15 years.
SY Familial juvenile nephronophthisis 1.
DR MIM; 256100; phenotype.
DR MedGen; C1855681.
DR MeSH; D052177.
KW KW-0983:Nephronophthisis.
KW KW-1186:Ciliopathy.
//
ID Nephronophthisis 11.
AC DI-02898
AR NPHP11.
DE A disorder characterized by the association of nephronophthisis with
DE hepatic fibrosis. Nephronophthisis is a progressive tubulo-
DE interstitial kidney disorder histologically characterized by
DE modifications of the tubules with thickening of the basement membrane,
DE interstitial fibrosis and, in the advanced stages, medullary cysts.
DE Typical clinical features are chronic renal failure, anemia, polyuria,
DE polydipsia, isosthenuria, and growth retardation. Associations with
DE extrarenal symptoms, especially ocular lesions, are frequent.
DR MIM; 613550; phenotype.
DR MedGen; C3150796.
DR MeSH; D052177.
KW KW-0983:Nephronophthisis.
KW KW-1186:Ciliopathy.
//
ID Nephronophthisis 12.
AC DI-03051
AR NPHP12.
DE An autosomal recessive disorder resulting in end-stage renal disease.
DE It is a progressive tubulo-interstitial kidney disorder histologically
DE characterized by modifications of the tubules with thickening of the
DE basement membrane, interstitial fibrosis and, in the advanced stages,
DE medullary cysts. Some patients manifest extra-renal features including
DE retinal, skeletal and central nervous system defects.
DR MIM; 613820; phenotype.
DR MedGen; C3151186.
DR MeSH; D052177.
KW KW-0983:Nephronophthisis.
KW KW-1186:Ciliopathy.
//
ID Nephronophthisis 13.
AC DI-03326
AR NPHP13.
DE An autosomal recessive disorder resulting in end-stage renal disease.
DE It is a progressive tubulo-interstitial kidney disorder histologically
DE characterized by modifications of the tubules with thickening of the
DE basement membrane, interstitial fibrosis and, in the advanced stages,
DE medullary cysts.
DR MIM; 614377; phenotype.
DR MedGen; C3280612.
DR MeSH; D052177.
KW KW-0983:Nephronophthisis.
KW KW-1186:Ciliopathy.
//
ID Nephronophthisis 14.
AC DI-03547
AR NPHP14.
DE An autosomal recessive disorder manifesting as infantile-onset kidney
DE disease, cerebellar vermis hypoplasia, and situs inversus.
DE Nephronophthisis is a progressive tubulo-interstitial kidney disorder
DE histologically characterized by modifications of the tubules with
DE thickening of the basement membrane, interstitial fibrosis and, in the
DE advanced stages, medullary cysts.
DR MIM; 614844; phenotype.
DR MedGen; C3539071.
DR MedGen; CN158702.
DR MeSH; D052177.
KW KW-0983:Nephronophthisis.
KW KW-1186:Ciliopathy.
//
ID Nephronophthisis 15.
AC DI-03538
AR NPHP15.
DE An autosomal recessive disorder characterized by the association of
DE nephronophthisis with Leber congenital amaurosis and retinal
DE degeneration, often resulting in blindness during childhood.
DE Additional features include seizures, cerebellar vermis hypoplasia,
DE facial dysmorphism, bronchiectasis and liver failure. Nephronophthisis
DE is a chronic tubulo-interstitial nephritis that progresses to end-
DE stage renal failure.
DR MIM; 614845; phenotype.
DR MedGen; C3541853.
DR MedGen; CN158703.
DR MeSH; D052177.
KW KW-0983:Nephronophthisis.
KW KW-1186:Ciliopathy.
//
ID Nephronophthisis 16.
AC DI-03843
AR NPHP16.
DE A form of nephronophthisis, a chronic tubulo-interstitial nephritis
DE that progresses to end-stage renal failure. Some patients have cystic
DE kidneys of normal size and no extrarenal manifestations, whereas
DE others have enlarged renal size and severe extrarenal defects,
DE including hypertrophic obstructive cardiomyopathy, aortic stenosis,
DE pulmonary stenosis, patent ductus arteriosus, situs inversus, and
DE periportal liver fibrosis.
DR MIM; 615382; phenotype.
DR MedGen; C3809320.
DR MedGen; CN179770.
DR MeSH; D052177.
KW KW-0983:Nephronophthisis.
KW KW-1186:Ciliopathy.
//
ID Nephronophthisis 18.
AC DI-04134
AR NPHP18.
DE An autosomal recessive disorder characterized by chronic
DE tubulointerstitial nephritis resulting in end-stage renal disease in
DE early childhood. Extrarenal manifestations, including intellectual
DE disability or liver changes, may occur in some patients.
DR MIM; 615862; phenotype.
DR MedGen; CN189146.
DR MeSH; D052177.
KW KW-0983:Nephronophthisis.
KW KW-1186:Ciliopathy.
//
ID Nephronophthisis 19.
AC DI-04336
AR NPHP19.
DE A form of nephronophthisis, an autosomal recessive disorder
DE characterized by chronic tubulointerstitial nephritis resulting in
DE end-stage renal disease. NPHP19 patients also manifest
DE hepatosplenomegaly, hepatic fibrosis, destruction of the bile ducts,
DE focal bile ductal proliferation, ductal plate malformation, and
DE cholestasis.
DR MIM; 616217; phenotype.
DR MedGen; CN225923.
DR MeSH; D052177.
KW KW-0983:Nephronophthisis.
KW KW-1186:Ciliopathy.
//
ID Nephronophthisis 2.
AC DI-00804
AR NPHP2.
DE An autosomal recessive disorder resulting in end-stage renal disease.
DE It is characterized by early onset and rapid progression. Phenotypic
DE manifestations include enlarged kidneys, chronic tubulo-interstitial
DE nephritis, anemia, hyperkalemic metabolic acidosis. Some patients also
DE display situs inversus. Pathologically, it differs from later-onset
DE nephronophthisis by the absence of medullary cysts and thickened
DE tubular basement membranes, and by the presence of cortical
DE microcysts.
SY Infantile nephronophthisis.
DR MIM; 602088; phenotype.
DR MedGen; C1865872.
DR MeSH; D052177.
KW KW-0983:Nephronophthisis.
KW KW-1186:Ciliopathy.
//
ID Nephronophthisis 20.
AC DI-04920
AR NPHP20.
DE A form of nephronophthisis, an autosomal recessive chronic tubulo-
DE interstitial nephritis that progresses to end-stage renal failure.
DE Some patients have cystic kidneys of normal size and no extrarenal
DE manifestations, whereas others have enlarged renal size and severe
DE extrarenal defects, including hypertrophic obstructive cardiomyopathy,
DE aortic stenosis, pulmonary stenosis, patent ductus arteriosus, situs
DE inversus, and periportal liver fibrosis. NPHP20 patients do not show
DE extrarenal manifestations or evidence of a ciliopathy, such as situs
DE inversus or polydactyly.
DR MIM; 617271; phenotype.
DR MedGen; CN230115.
DR MeSH; D052177.
KW KW-0983:Nephronophthisis.
//
ID Nephronophthisis 3.
AC DI-00805
AR NPHP3.
DE An autosomal recessive disorder resulting in end-stage renal disease.
DE It is characterized by polyuria, polydipsia, anemia. Onset of terminal
DE renal failure occurr significantly later (median age, 19 years) than
DE in juvenile nephronophthisis. Renal pathology is characterized by
DE alterations of tubular basement membranes, tubular atrophy and
DE dilation, sclerosing tubulointerstitial nephropathy, and renal cyst
DE development predominantly at the corticomedullary junction.
SY Adolescent nephronophthisis.
DR MIM; 604387; phenotype.
DR MedGen; C1858392.
DR MeSH; D052177.
KW KW-0983:Nephronophthisis.
KW KW-1186:Ciliopathy.
//
ID Nephronophthisis 4.
AC DI-00806
AR NPHP4.
DE An autosomal recessive inherited disease resulting in end-stage renal
DE disease at age ranging between 6 and 35 years. It is a progressive
DE tubulo-interstitial kidney disorder characterized by polydipsia,
DE polyuria, anemia and growth retardation. The most prominent
DE histological features are modifications of the tubules with thickening
DE of the basement membrane, interstitial fibrosis and, in the advanced
DE stages, medullary cysts.
SY Juvenile nephronophthisis 4.
DR MIM; 606966; phenotype.
DR MedGen; C1847013.
DR MeSH; D052177.
KW KW-0983:Nephronophthisis.
KW KW-1186:Ciliopathy.
//
ID Nephronophthisis 7.
AC DI-00807
AR NPHP7.
DE An autosomal recessive disorder resulting in end-stage renal disease
DE during childhood or adolescence. It is a progressive tubulo-
DE interstitial kidney disorder histologically characterized by
DE modifications of the tubules with thickening of the basement membrane,
DE interstitial fibrosis and, in the advanced stages, medullary cysts.
DR MIM; 611498; phenotype.
DR MedGen; C1969092.
DR MeSH; D052177.
KW KW-0983:Nephronophthisis.
KW KW-1186:Ciliopathy.
//
ID Nephronophthisis 9.
AC DI-03050
AR NPHP9.
DE An autosomal recessive disorder resulting in end-stage renal disease.
DE It is a progressive tubulo-interstitial kidney disorder histologically
DE characterized by modifications of the tubules with thickening of the
DE basement membrane, interstitial fibrosis and, in the advanced stages,
DE medullary cysts.
DR MIM; 613824; phenotype.
DR MedGen; C3151188.
DR MeSH; D052177.
KW KW-0983:Nephronophthisis.
KW KW-1186:Ciliopathy.
//
ID Nephronophthisis-like nephropathy 1.
AC DI-02901
AR NPHPL1.
DE An autosomal recessive disorder with features of nephronophthisis, a
DE cystic kidney disease leading to end-stage renal failure.
DE Nephronophthisis is histologically characterized by modifications of
DE the tubules with thickening of the basement membrane, interstitial
DE fibrosis and, in the advanced stages, medullary cysts. Typical
DE clinical manifestation are chronic renal failure, anemia, polyuria,
DE polydipsia, isosthenuria, and growth retardation. Associations with
DE extrarenal symptoms are frequent. In NPHPL1 patients, extrarenal
DE symptoms include hypertension, essential tremor, sensorineural hearing
DE loss and gout. Severely affected individuals can manifest a
DE mitochondrial disorder with isolated complex I deficiency activity in
DE muscle, seizures, intellectual disability and hypertrophic dilated
DE cardiomyopathy.
DR MIM; 613159; phenotype.
DR MedGen; C3150419.
DR MeSH; D052177.
KW KW-0983:Nephronophthisis.
//
ID Nephronophthisis-like nephropathy 2.
AC DI-06186
AR NPHPL2.
DE A disorder with features of nephronophthisis, a cystic kidney disease
DE leading to end-stage renal failure. Nephronophthisis is histologically
DE characterized by modifications of the tubules with thickening of the
DE basement membrane, interstitial fibrosis and, in the advanced stages,
DE medullary cysts. Typical clinical manifestation are chronic renal
DE failure, anemia, polyuria, polydipsia, isosthenuria, and growth
DE retardation. Associations with extrarenal symptoms are frequent.
DE NPHPL2 is an autosomal recessive form characterized by onset of
DE progressive renal insufficiency in the first decades of life.
DR MIM; 619468; phenotype.
DR MedGen; CN300326.
DR MeSH; D052177.
KW KW-0983:Nephronophthisis.
//
ID Nephropathy with pretibial epidermolysis bullosa and deafness.
AC DI-00808
AR NPEBD.
DE A disorder characterized by the association of hereditary nephritis,
DE epidermolysis bullosa, deafness, and beta-thalassemia minor.
DR MIM; 609057; phenotype.
DR MedGen; C1836823.
DR MeSH; D003638.
DR MeSH; D007674.
DR MeSH; D016108.
KW KW-0209:Deafness.
KW KW-0263:Epidermolysis bullosa.
//
ID Nephrotic syndrome 1.
AC DI-01414
AR NPHS1.
DE A form of nephrotic syndrome, a renal disease clinically characterized
DE by severe proteinuria, resulting in complications such as
DE hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE specific histologic changes such as focal segmental glomerulosclerosis
DE and diffuse mesangial proliferation. Some affected individuals have an
DE inherited steroid-resistant form and progress to end-stage renal
DE failure.
SY CNF.
SY Congenital nephrotic syndrome.
SY Congenital nephrotic syndrome of the Finnish type.
SY Finnish congenital nephrosis.
DR MIM; 256300; phenotype.
DR MedGen; C0403399.
DR MeSH; D009404.
//
ID Nephrotic syndrome 10.
AC DI-04133
AR NPHS10.
DE A form of nephrotic syndrome, a renal disease clinically characterized
DE by focal segmental glomerulosclerosis, progressive renal failure,
DE severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. NPHS10
DE is a steroid-sensitive form characterized by onset in childhood and
DE remission without end-stage kidney disease.
DR MIM; 615861; phenotype.
DR MedGen; CN189148.
DR MeSH; D009404.
//
ID Nephrotic syndrome 11.
AC DI-04623
AR NPHS11.
DE A form of nephrotic syndrome, a renal disease clinically characterized
DE by severe proteinuria, resulting in complications such as
DE hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE specific histologic changes such as focal segmental glomerulosclerosis
DE and diffuse mesangial proliferation. Some affected individuals have an
DE inherited steroid-resistant form and progress to end-stage renal
DE failure. NPHS11 is an autosomal recessive, steroid-resistant and
DE progressive form with onset in the first decade of life.
DR MIM; 616730; phenotype.
DR MedGen; CN234872.
DR MeSH; D009404.
//
ID Nephrotic syndrome 12.
AC DI-04699
AR NPHS12.
DE A form of nephrotic syndrome, a renal disease clinically characterized
DE by severe proteinuria, resulting in complications such as
DE hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE specific histologic changes such as focal segmental glomerulosclerosis
DE and diffuse mesangial proliferation. Some affected individuals have an
DE inherited steroid-resistant form and progress to end-stage renal
DE failure. NPHS12 inheritance is autosomal recessive.
DR MIM; 616892; phenotype.
DR MedGen; CN235925.
DR MeSH; D009404.
//
ID Nephrotic syndrome 13.
AC DI-04700
AR NPHS13.
DE A form of nephrotic syndrome, a renal disease clinically characterized
DE by severe proteinuria, resulting in complications such as
DE hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE specific histologic changes such as focal segmental glomerulosclerosis
DE and diffuse mesangial proliferation. Some affected individuals have an
DE inherited steroid-resistant form and progress to end-stage renal
DE failure.
DR MIM; 616893; phenotype.
DR MedGen; CN235926.
DR MeSH; D009404.
//
ID Nephrotic syndrome 14.
AC DI-05043
AR NPHS14.
DE A form of nephrotic syndrome, a renal disease clinically characterized
DE by severe proteinuria, resulting in complications such as
DE hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE specific histologic changes such as focal segmental glomerulosclerosis
DE and diffuse mesangial proliferation. NPHS14 is an autosomal recessive
DE syndromic, steroid-resistant form that progresses to end-stage renal
DE failure. Some NPHS14 patients manifest ichthyosis, adrenal
DE insufficiency, immunodeficiency, and neurological defects.
SY Nephrotic syndrome, type 14.
SY Sphingosine phosphate lyase insufficiency syndrome.
SY SPLIS.
DR MIM; 617575; phenotype.
DR MedGen; CN339707.
DR MeSH; D009404.
//
ID Nephrotic syndrome 15.
AC DI-05067
AR NPHS15.
DE A form of nephrotic syndrome, a renal disease clinically characterized
DE by severe proteinuria, resulting in complications such as
DE hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE specific histologic changes such as focal segmental glomerulosclerosis
DE and diffuse mesangial proliferation. NPHS15 is an autosomal recessive
DE form with onset in the first months of life. Disease severity is
DE variable. Some patients show rapid progression to end-stage renal
DE failure.
SY Nephrotic syndrome, type 15.
DR MIM; 617609; phenotype.
DR MedGen; CN388854.
DR MeSH; D009404.
//
ID Nephrotic syndrome 16.
AC DI-05129
AR NPHS16.
DE A form of nephrotic syndrome, a renal disease clinically characterized
DE by severe proteinuria, resulting in complications such as
DE hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE specific histologic changes such as focal segmental glomerulosclerosis
DE and diffuse mesangial proliferation. Some affected individuals have an
DE inherited steroid-resistant form that progresses to end-stage renal
DE failure. NPHS16 inheritance is autosomal recessive.
SY Nephrotic syndrome, type 16.
DR MIM; 617783; phenotype.
DR MedGen; CN651336.
DR MeSH; D009404.
//
ID Nephrotic syndrome 17.
AC DI-05378
AR NPHS17.
DE A form of nephrotic syndrome, a renal disease clinically characterized
DE by severe proteinuria, resulting in complications such as
DE hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE specific histologic changes such as focal segmental glomerulosclerosis
DE and diffuse mesangial proliferation. Some affected individuals have an
DE inherited steroid-resistant form that progresses to end-stage renal
DE failure. NPHS17 is an autosomal recessive, steroid-resistant
DE progressive form with onset in the first decade of life.
DR MIM; 618176; phenotype.
DR MedGen; CN257778.
DR MeSH; D009404.
//
ID Nephrotic syndrome 18.
AC DI-05379
AR NPHS18.
DE A form of nephrotic syndrome, a renal disease clinically characterized
DE by severe proteinuria, resulting in complications such as
DE hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE specific histologic changes such as focal segmental glomerulosclerosis
DE and diffuse mesangial proliferation. Some affected individuals have an
DE inherited steroid-resistant form that progresses to end-stage renal
DE failure. NPHS18 is an autosomal recessive, steroid-resistant
DE progressive form with onset in the first decade of life.
DR MIM; 618177; phenotype.
DR MedGen; CN257779.
DR MeSH; D009404.
//
ID Nephrotic syndrome 19.
AC DI-05380
AR NPHS19.
DE A form of nephrotic syndrome, a renal disease clinically characterized
DE by severe proteinuria, resulting in complications such as
DE hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE specific histologic changes such as focal segmental glomerulosclerosis
DE and diffuse mesangial proliferation. Some affected individuals have an
DE inherited steroid-resistant form that progresses to end-stage renal
DE failure. NPHS19 is an autosomal recessive, steroid-resistant form with
DE onset in the first or second decade of life, resulting in chronic
DE kidney disease.
DR MIM; 618178; phenotype.
DR MedGen; CN257780.
DR MeSH; D009404.
//
ID Nephrotic syndrome 2.
AC DI-01260
AR NPHS2.
DE A form of nephrotic syndrome, a renal disease clinically characterized
DE by severe proteinuria, resulting in complications such as
DE hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE specific histologic changes such as focal segmental glomerulosclerosis
DE and diffuse mesangial proliferation. The disorder is resistant to
DE steroid treatment and progresses to end-stage renal failure in the
DE first or second decades. Some patients show later onset of the
DE disorder.
SY Autosomal recessive steroid-resistant nephrotic syndrome.
SY SRN.
SY SRN1.
DR MIM; 600995; phenotype.
DR MedGen; C1868672.
DR MeSH; D009404.
//
ID Nephrotic syndrome 20.
AC DI-05603
AR NPHS20.
DE A form of nephrotic syndrome, a renal disease clinically characterized
DE by severe proteinuria, resulting in complications such as
DE hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE specific histologic changes such as focal segmental glomerulosclerosis
DE and diffuse mesangial proliferation. Some affected individuals have an
DE inherited steroid-resistant form that progresses to end-stage renal
DE failure. NPHS20 is an X-linked, steroid-resistant form with onset at
DE birth or in the first years of life in affected males. Death in
DE childhood may occur in absence of renal transplantation. Carrier
DE females may be unaffected or have a mild disease with proteinuria.
DR MIM; 301028; phenotype.
DR MedGen; CN260592.
DR MeSH; D009404.
//
ID Nephrotic syndrome 21.
AC DI-05664
AR NPHS21.
DE A form of nephrotic syndrome, a renal disease clinically characterized
DE by severe proteinuria, resulting in complications such as
DE hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE specific histologic changes such as focal segmental glomerulosclerosis
DE and diffuse mesangial proliferation. Some affected individuals have an
DE inherited steroid-resistant form that progresses to end-stage renal
DE failure. NPHS21 is an autosomal recessive, rapidly progressive,
DE steroid-resistant form characterized by onset of kidney dysfunction in
DE the first year of life. Some patients may have variable extra-renal
DE manifestations.
DR MIM; 618594; phenotype.
DR MedGen; CN262329.
DR MeSH; D009404.
//
ID Nephrotic syndrome 22.
AC DI-06009
AR NPHS22.
DE A form of nephrotic syndrome, a renal disease clinically characterized
DE by severe proteinuria, resulting in complications such as
DE hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE specific histologic changes such as focal segmental glomerulosclerosis
DE and diffuse mesangial proliferation. Some affected individuals have an
DE inherited steroid-resistant form that progresses to end-stage renal
DE failure. NPHS22 is an autosomal recessive, steroid-resistant form
DE characterized by onset of progressive kidney dysfunction in infancy.
DR MIM; 619155; phenotype.
DR MedGen; CN295220.
DR MeSH; D009404.
//
ID Nephrotic syndrome 23.
AC DI-06033
AR NPHS23.
DE A form of nephrotic syndrome, a renal disease clinically characterized
DE by severe proteinuria, resulting in complications such as
DE hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE specific histologic changes such as focal segmental glomerulosclerosis
DE and diffuse mesangial proliferation. Some affected individuals have an
DE inherited steroid-resistant form that progresses to end-stage renal
DE failure. NPHS23 is an autosomal recessive form characterized by onset
DE of proteinuria in the first or second decade of life, and variable
DE outcome. Some patients have normal renal function after many years,
DE whereas others may progress to chronic kidney disease.
DR MIM; 619201; phenotype.
DR MedGen; CN295786.
DR MeSH; D009404.
//
ID Nephrotic syndrome 24.
AC DI-06075
AR NPHS24.
DE A form of nephrotic syndrome, a renal disease clinically characterized
DE by severe proteinuria, resulting in complications such as
DE hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE specific histologic changes such as focal segmental glomerulosclerosis
DE and diffuse mesangial proliferation. Some affected individuals have an
DE inherited steroid-resistant form that progresses to end-stage renal
DE failure. NPHS24 is an autosomal recessive, slowly progressive form.
DE Most patients eventually develop end-stage renal disease.
DR MIM; 619263; phenotype.
DR MedGen; CN296327.
DR MeSH; D009404.
//
ID Nephrotic syndrome 3.
AC DI-02041
AR NPHS3.
DE A form of nephrotic syndrome, a renal disease clinically characterized
DE by severe proteinuria, resulting in complications such as
DE hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE specific histologic changes such as focal segmental glomerulosclerosis
DE and diffuse mesangial proliferation. Some affected individuals have an
DE inherited steroid-resistant form and progress to end-stage renal
DE failure. Most patients with NPHS3 show diffuse mesangial sclerosis on
DE renal biopsy, which is a pathologic entity characterized by mesangial
DE matrix expansion with no mesangial hypercellularity, hypertrophy of
DE the podocytes, vacuolized podocytes, thickened basement membranes, and
DE diminished patency of the capillary lumen.
SY Early-onset nephrotic syndrome type 3.
DR MIM; 610725; phenotype.
DR MedGen; C1853124.
DR MeSH; D009404.
//
ID Nephrotic syndrome 4.
AC DI-01838
AR NPHS4.
DE A form of nephrotic syndrome, a renal disease clinically characterized
DE by severe proteinuria, resulting in complications such as
DE hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE specific histologic changes such as focal segmental glomerulosclerosis
DE and diffuse mesangial proliferation. Some affected individuals have an
DE inherited steroid-resistant form and progress to end-stage renal
DE failure. Most patients with NPHS4 show diffuse mesangial sclerosis on
DE renal biopsy, which is a pathologic entity characterized by mesangial
DE matrix expansion with no mesangial hypercellularity, hypertrophy of
DE the podocytes, vacuolized podocytes, thickened basement membranes, and
DE diminished patency of the capillary lumen.
SY Isolated diffuse mesangial sclerosis.
DR MIM; 256370; phenotype.
DR MedGen; C0268747.
DR MedGen; C3151568.
DR MeSH; D009404.
//
ID Nephrotic syndrome 5 with or without ocular abnormalities.
AC DI-03237
AR NPHS5.
DE A form of nephrotic syndrome, a renal disease clinically characterized
DE by severe proteinuria, resulting in complications such as
DE hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE specific histologic changes such as focal segmental glomerulosclerosis
DE and diffuse mesangial proliferation. Some affected individuals have an
DE inherited steroid-resistant form and progress to end-stage renal
DE failure. NPHS5 is characterized by very early onset of progressive
DE renal failure. A subset of patients may develop mild ocular anomalies,
DE such as myopia, nystagmus, and strabismus.
DR MIM; 614199; phenotype.
DR MedGen; C3280113.
DR MeSH; D009404.
//
ID Nephrotic syndrome 6.
AC DI-03238
AR NPHS6.
DE A form of nephrotic syndrome, a renal disease clinically characterized
DE by severe proteinuria, resulting in complications such as
DE hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE specific histologic changes such as focal segmental glomerulosclerosis
DE and diffuse mesangial proliferation. Some affected individuals have an
DE inherited steroid-resistant form and progress to end-stage renal
DE failure.
DR MIM; 614196; phenotype.
DR MedGen; C3280100.
DR MeSH; D009404.
//
ID Nephrotic syndrome 7.
AC DI-03666
AR NPHS7.
DE A form of nephrotic syndrome, a renal disease clinically characterized
DE by severe proteinuria, resulting in complications such as
DE hypoalbuminemia, hyperlipidemia and edema. NPHS7 is an autosomal
DE recessive form characterized by onset of proteinuria usually in the
DE first decade of life. The disorder is progressive, and some patients
DE develop end-stage renal disease within several years. Renal biopsy
DE typically shows membranoproliferative glomerulonephritis.
SY Nephrotic syndrome type 7 with membranoproliferative glomerulonephritis.
DR MIM; 615008; phenotype.
DR MedGen; C3554330.
DR MedGen; CN164256.
DR MeSH; D009404.
//
ID Nephrotic syndrome 8.
AC DI-03751
AR NPHS8.
DE A form of nephrotic syndrome, a renal disease clinically characterized
DE by progressive renal failure, severe proteinuria, hypoalbuminemia,
DE hyperlipidemia and edema. Kidney biopsies show diffuse mesangial
DE sclerosis, with small glomeruli, hypercellularity, increased
DE extracellular matrix, and contracted/collapsed glomerular tufts
DE surrounded by immature or abnormal podocytes.
DR MIM; 615244; phenotype.
DR MedGen; C3808953.
DR MedGen; CN169878.
DR MeSH; D009404.
//
ID Nephrotic syndrome 9.
AC DI-03980
AR NPHS9.
DE A form of nephrotic syndrome, a renal disease clinically characterized
DE by progressive renal failure, severe proteinuria, hypoalbuminemia,
DE hyperlipidemia and edema. Kidney biopsies show focal segmental
DE glomerulosclerosis.
DR MIM; 615573; phenotype.
DR MedGen; C3809965.
DR MedGen; CN185292.
DR MeSH; D009404.
//
ID NESCAV syndrome.
AC DI-03252
AR NESCAVS.
DE An autosomal dominant neurodegenerative disorder with variable
DE manifestations. Main features are delayed psychomotor development,
DE progressive spasticity, intellectual disability, speech delay, and
DE learning disabilities. Some patients never achieve ambulation.
DE Additional variable features are cortical visual impairment, often
DE associated with optic atrophy, axonal peripheral neuropathy, seizures,
DE dysautonomia, ataxia, and dystonia. Brain imaging often shows
DE progressive cerebellar atrophy and thin corpus callosum. Disease onset
DE is in infancy or early childhood.
SY MRD9.
SY Neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment.
DR MIM; 614255; phenotype.
DR MedGen; C3280283.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Nestor-Guillermo progeria syndrome.
AC DI-03175
AR NGPS.
DE An atypical progeroid syndrome characterized by normal development in
DE the first years of life, later followed by the emergence of
DE generalized lipoatrophy, severe osteoporosis, and marked osteolysis.
DE The atrophic facial subcutaneous fat pad and the marked osteolysis of
DE the maxilla and mandible result in a typical pseudosenile facial
DE appearance with micrognathia, prominent subcutaneous venous
DE patterning, a convex nasal ridge, and proptosis. Cognitive development
DE is completely normal. Patients do not have cardiovascular dysfunction,
DE atherosclerosis, or metabolic anomalies.
SY Progeria syndrome childhood-onset with osteolysis.
SY PSCOO.
DR MIM; 614008; phenotype.
DR MedGen; C3151446.
DR MeSH; D011371.
//
ID Netherton syndrome.
AC DI-00809
AR NETH.
DE An autosomal recessive congenital ichthyosis associated with hair
DE shaft abnormalities and anomalies of the immune system. Typical
DE features are ichthyosis linearis circumflexa, ichthyosiform
DE erythroderma, trichorrhexis invaginata (bamboo hair), atopic
DE dermatitis, and hayfever. High postnatal mortality is due to failure
DE to thrive, infections and hypernatremic dehydration.
SY Comel-Netherton syndrome.
SY Erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE.
SY Netherton disease.
SY NS.
SY NTS.
DR MIM; 256500; phenotype.
DR MedGen; C0265962.
DR MeSH; D056770.
KW KW-0977:Ichthyosis.
KW KW-1063:Hypotrichosis.
//
ID Neu-Laxova syndrome 1.
AC DI-04141
AR NLS1.
DE A lethal, autosomal recessive multiple malformation syndrome
DE characterized by ichthyosis, marked intrauterine growth restriction,
DE microcephaly, short neck, limb deformities, hypoplastic lungs, edema,
DE and central nervous system anomalies including lissencephaly,
DE cerebellar hypoplasia and/or abnormal/agenesis of the corpus callosum.
DE Abnormal facial features include severe proptosis with ectropion,
DE hypertelorism, micrognathia, flattened nose, and malformed ears.
DR MIM; 256520; phenotype.
DR MedGen; C0265218.
DR MeSH; D001927.
DR MeSH; D005317.
DR MeSH; D007057.
DR MeSH; D008831.
DR MeSH; D017880.
//
ID Neu-Laxova syndrome 2.
AC DI-04253
AR NLS2.
DE A form of Neu-Laxova syndrome, a lethal, autosomal recessive multiple
DE malformation syndrome characterized by ichthyosis, marked intrauterine
DE growth restriction, microcephaly, short neck, limb deformities,
DE hypoplastic lungs, edema, and central nervous system anomalies. These
DE include lissencephaly, cerebellar hypoplasia and/or abnormal/agenesis
DE of the corpus callosum. Abnormal facial features include severe
DE proptosis with ectropion, hypertelorism, micrognathia, flattened nose,
DE and malformed ears.
DR MIM; 616038; phenotype.
DR MedGen; CN219802.
DR MeSH; D001927.
DR MeSH; D005317.
DR MeSH; D007057.
DR MeSH; D008831.
DR MeSH; D017880.
//
ID Neural tube defects.
AC DI-02042
AR NTD.
DE Congenital malformations of the central nervous system and adjacent
DE structures related to defective neural tube closure during the first
DE trimester of pregnancy. Failure of neural tube closure can occur at
DE any level of the embryonic axis. Common NTD forms include anencephaly,
DE myelomeningocele and spina bifida, which result from the failure of
DE fusion in the cranial and spinal region of the neural tube. NTDs have
DE a multifactorial etiology encompassing both genetic and environmental
DE components.
SY Spina bifida.
DR MIM; 182940; phenotype.
DR MedGen; C0027794.
DR MedGen; C0080178.
DR MeSH; D009436.
//
ID Neural tube defects, folate-sensitive.
AC DI-01623
AR NTDFS.
DE The most common NTDs are open spina bifida (myelomeningocele) and
DE anencephaly.
DR MIM; 601634; phenotype.
DR MedGen; C1866558.
DR MedGen; C1866559.
//
ID Neuroblastoma 1.
AC DI-02633
AR NBLST1.
DE A common neoplasm of early childhood arising from embryonic cells that
DE form the primitive neural crest and give rise to the adrenal medulla
DE and the sympathetic nervous system.
DR MIM; 256700; phenotype.
DR MedGen; C0027819.
DR MedGen; C2749484.
DR MedGen; C2749485.
DR MeSH; D009447.
//
ID Neuroblastoma 2.
AC DI-02631
AR NBLST2.
DE A common neoplasm of early childhood arising from embryonic cells that
DE form the primitive neural crest and give rise to the adrenal medulla
DE and the sympathetic nervous system.
DR MIM; 613013; phenotype.
DR MedGen; C2751682.
DR MedGen; C2751683.
DR MeSH; D009447.
//
ID Neuroblastoma 3.
AC DI-02632
AR NBLST3.
DE A common neoplasm of early childhood arising from embryonic cells that
DE form the primitive neural crest and give rise to the adrenal medulla
DE and the sympathetic nervous system.
DR MIM; 613014; phenotype.
DR MedGen; C2751681.
DR MeSH; D009447.
//
ID Neurodegeneration due to cerebral folate transport deficiency.
AC DI-02630
AR NCFTD.
DE An autosomal recessive neurodegenerative disorder resulting from
DE brain-specific folate deficiency early in life. Onset is apparent in
DE late infancy with severe developmental regression, movement
DE disturbances, epilepsy and leukodystrophy.
DR MIM; 613068; phenotype.
DR MedGen; C2751584.
DR MeSH; D019636.
KW KW-0523:Neurodegeneration.
//
ID Neurodegeneration with ataxia and late-onset optic atrophy.
AC DI-06073
AR NDAXOA.
DE An autosomal dominant disorder characterized by slowly progressive
DE cerebellar and gait ataxia, optic atrophy, and myopathy or myalgia.
DE Additional features can include cardiomyopathy, psychiatric
DE disturbances, and peripheral sensory impairment. Disease onset is
DE usually in mid-adulthood.
DR MIM; 619259; phenotype.
DR MedGen; CN296311.
DR MeSH; D019636.
KW KW-0523:Neurodegeneration.
//
ID Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset.
AC DI-04862
AR NADGP.
DE A neurodegenerative disorder characterized by gait abnormalities,
DE ataxia, dysarthria, dystonia, vertical gaze palsy, and cognitive
DE decline. Disease onset is in childhood or adolescence. NADGP
DE transmission pattern is consistent with autosomal recessive
DE inheritance.
DR MIM; 617145; phenotype.
DR MedGen; CN238691.
DR MeSH; D020271.
KW KW-0523:Neurodegeneration.
//
ID Neurodegeneration with brain iron accumulation 1.
AC DI-02126
AR NBIA1.
DE Autosomal recessive neurodegenerative disorder associated with iron
DE accumulation in the brain, primarily in the basal ganglia. Clinical
DE manifestations include progressive muscle spasticity, hyperreflexia,
DE muscle rigidity, dystonia, dysarthria, and intellectual deterioration
DE which progresses to severe dementia over several years. It is
DE clinically classified into classic, atypical, and intermediate
DE phenotypes. Classic forms present with onset in first decade, rapid
DE progression, loss of independent ambulation within 15 years. Atypical
DE forms have onset in second decade, slow progression, maintenance of
DE independent ambulation up to 40 years later. Intermediate forms
DE manifest onset in first decade with slow progression or onset in
DE second decade with rapid progression. Patients with early onset tend
DE to also develop pigmentary retinopathy, whereas those with later onset
DE tend to also have speech disorders and psychiatric features. All
DE patients have the 'eye of the tiger' sign on brain MRI.
SY Hallervorden-Spatz syndrome.
SY HSS.
SY Pantothenate kinase-associated neurodegeneration.
SY PKAN.
SY PKAN neuroaxonal dystrophy juvenile-onset.
DR MIM; 234200; phenotype.
DR MedGen; C0018523.
DR MeSH; D006211.
KW KW-0523:Neurodegeneration.
//
ID Neurodegeneration with brain iron accumulation 2A.
AC DI-01819
AR NBIA2A.
DE A neurodegenerative disease characterized by pathologic axonal
DE swelling and spheroid bodies in the central nervous system. Onset is
DE within the first 2 years of life with death by age 10 years.
SY INAD.
SY INAD1.
SY Infantile neuroaxonal dystrophy.
SY Infantile neuroaxonal dystrophy 1.
SY Neurodegeneration PLA2G6-associated.
SY PLAN.
SY Seitelberger disease.
DR MIM; 256600; phenotype.
DR MedGen; C0270724.
DR MedGen; C0751718.
DR MeSH; D019150.
KW KW-0523:Neurodegeneration.
//
ID Neurodegeneration with brain iron accumulation 2B.
AC DI-02043
AR NBIA2B.
DE A neurodegenerative disorder associated with iron accumulation in the
DE brain, primarily in the basal ganglia. It is characterized by
DE progressive extrapyramidal dysfunction leading to rigidity, dystonia,
DE dysarthria and sensorimotor impairment.
SY Atypical neuroaxonal dystrophy.
SY Karak syndrome.
SY Neurodegeneration with brain iron accumulation PLA2G6-related.
DR MIM; 610217; phenotype.
DR MedGen; C1857747.
DR MedGen; C2750220.
DR MeSH; D001480.
DR MeSH; D019150.
DR MeSH; D019189.
KW KW-0523:Neurodegeneration.
//
ID Neurodegeneration with brain iron accumulation 3.
AC DI-02044
AR NBIA3.
DE A neurodegenerative disorder associated with iron accumulation in the
DE brain, primarily in the basal ganglia. It is characterized by a
DE variety of neurological signs including parkinsonism, ataxia,
DE corticospinal signs, mild non-progressive cognitive deficit and
DE episodic psychosis. It is linked with decreased serum ferritin levels.
SY Adult-onset basal ganglia disease.
SY Neuroferritinopathy.
DR MIM; 606159; phenotype.
DR MedGen; C1853578.
DR MeSH; D001480.
DR MeSH; D019150.
DR MeSH; D019189.
KW KW-0523:Neurodegeneration.
//
ID Neurodegeneration with brain iron accumulation 4.
AC DI-03284
AR NBIA4.
DE A neurodegenerative disorder associated with iron accumulation in the
DE brain, primarily in the basal ganglia. NBIA4 results in speech
DE difficulty, extrapyramidal signs, oromandibular and generalized
DE dystonia, and parkinsonism. Most patients have progressive involvement
DE of the corticospinal tract, with spasticity, hyperreflexia, and
DE extensor plantar responses.
SY Mitochondrial membrane protein associated neurodegeneration.
SY MPAN.
DR MIM; 614298; phenotype.
DR MedGen; C3280371.
DR MeSH; D001480.
DR MeSH; D019150.
DR MeSH; D019189.
KW KW-0523:Neurodegeneration.
//
ID Neurodegeneration with brain iron accumulation 5.
AC DI-03757
AR NBIA5.
DE A neurodegenerative disorder associated with iron accumulation in the
DE brain, primarily in the basal ganglia. NBIA5 is characterized by
DE global developmental delay in early childhood that is essentially
DE static, with slow motor and cognitive gains until adolescence or early
DE adulthood. In young adulthood, affected individuals develop
DE progressive dystonia, parkinsonism, extrapyramidal signs, and dementia
DE resulting in severe disability.
SY Beta-propeller protein-associated neurodegeneration.
SY BPAN.
SY SENDA.
SY Static encephalopathy of childhood with neurodegeneration in adulthood.
DR MIM; 300894; phenotype.
DR MedGen; C3550973.
DR MedGen; CN169527.
DR MeSH; D001480.
DR MeSH; D019150.
DR MeSH; D019189.
KW KW-0523:Neurodegeneration.
//
ID Neurodegeneration with brain iron accumulation 6.
AC DI-04039
AR NBIA6.
DE A neurodegenerative disorder associated with iron accumulation in the
DE brain, primarily in the basal ganglia. It is characterized by
DE progressive motor and cognitive dysfunction beginning in childhood or
DE young adulthood. Patients show extrapyramidal motor signs, such as
DE spasticity, dystonia, and parkinsonism.
DR MIM; 615643; phenotype.
DR MedGen; C3810230.
DR MedGen; CN184649.
DR MeSH; D001480.
DR MeSH; D019150.
DR MeSH; D019189.
KW KW-0523:Neurodegeneration.
//
ID Neurodegeneration with brain iron accumulation 7.
AC DI-05217
AR NBIA7.
DE A neurodegenerative disorder associated with iron accumulation,
DE primarily in the basal ganglia. Clinical features include speech and
DE motor delay, truncal hypotonia, progressive cerebellar ataxia, and
DE loss of ambulation. NBIA7 transmission pattern is consistent with
DE autosomal recessive inheritance.
DR MIM; 617916; phenotype.
DR MedGen; CN895590.
DR MeSH; D001480.
DR MeSH; D019150.
DR MeSH; D019189.
KW KW-0523:Neurodegeneration.
//
ID Neurodegeneration with brain iron accumulation 8.
AC DI-05218
AR NBIA8.
DE A neurodegenerative disorder associated with iron accumulation,
DE primarily in the basal ganglia. Disease onset is in early childhood.
DE Clinical features include speech delay, progressive cerebellar ataxia,
DE unbalanced gait, and loss of ambulation. NBIA8 transmission pattern is
DE consistent with autosomal recessive inheritance.
DR MIM; 617917; phenotype.
DR MedGen; CN895591.
DR MeSH; D001480.
DR MeSH; D019150.
DR MeSH; D019189.
KW KW-0523:Neurodegeneration.
//
ID Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures.
AC DI-05374
AR CONDSIAS.
DE An autosomal recessive neurodegenerative disorder characterized by
DE pediatric onset of progressive brain atrophy, developmental
DE regression, and seizures in association with periods of stress, such
DE as infections.
DR MIM; 618170; phenotype.
DR MedGen; CN257777.
DR MeSH; D020271.
KW KW-0523:Neurodegeneration.
//
ID Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline.
AC DI-05829
AR CONATOC.
DE An autosomal recessive neurodegenerative disease characterized by
DE progressive ataxia, tremor, cognitive decline, dysphagia, optic
DE atrophy, dysarthria, as well as urinary and bowel incontinence. Brain
DE MRI demonstrates cerebellar atrophy and leukoencephalopathy.
DR MIM; 618868; phenotype.
DR MedGen; CN280881.
DR MeSH; D019636.
DR MeSH; D056784.
KW KW-0523:Neurodegeneration.
//
ID Neurodegeneration, childhood-onset, with brain atrophy.
AC DI-05101
AR CONDBA.
DE An autosomal dominant neurodegenerative disease with onset in
DE childhood, characterized by progressive cortical atrophy,
DE developmental delay, developmental regression, loss of motor skills
DE and ambulation, absence of language, and intellectual disability.
DR MIM; 617672; phenotype.
DR MedGen; CN469330.
DR MeSH; D019636.
KW KW-0523:Neurodegeneration.
KW KW-0991:Intellectual disability.
//
ID Neurodegeneration, childhood-onset, with cerebellar atrophy.
AC DI-05457
AR CONDCA.
DE An autosomal recessive disorder characterized by early onset of
DE progressive neurodegeneration affecting the central and peripheral
DE nervous systems. Clinical features include global developmental delay,
DE impaired intellectual development, poor or absent speech, and motor
DE abnormalities. Brain imaging shows cerebellar atrophy. Death in
DE childhood may occur.
DR MIM; 618276; phenotype.
DR MedGen; CN258098.
DR MeSH; D020271.
KW KW-0523:Neurodegeneration.
//
ID Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities.
AC DI-06027
AR CONRIBA.
DE An autosomal dominant, progressive, neurodegenerative disorder
DE characterized by severe global developmental delay, impaired
DE intellectual development, poor or absent speech, hypotonia, impaired
DE motor development, respiratory insufficiency, and feeding
DE difficulties. Most patients have visual defects, including cortical
DE visual blindness, nystagmus, and esotropia. Brain imaging shows
DE abnormalities affecting the brainstem, cerebellum, and corticospinal
DE tracts. Disease onset is in infancy or early childhood.
DR MIM; 619173; phenotype.
DR MedGen; CN295280.
DR MeSH; D020271.
KW KW-0523:Neurodegeneration.
//
ID Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia.
AC DI-05576
AR NDCAMA.
DE An autosomal recessive disorder characterized by severe neurological
DE and extra-neurological manifestations. Clinical features include
DE early-onset global developmental delay, absent speech, dystonia,
DE spasticity, choreoathetoid movement disorder, seizures, and microcytic
DE hypochromic anaemia unresponsive to iron supplementation.
DR MIM; 618451; phenotype.
DR MedGen; CN258816.
DR MeSH; D000747.
DR MeSH; D009069.
DR MeSH; D020271.
KW KW-0523:Neurodegeneration.
//
ID Neurodegeneration, infantile-onset, biotin-responsive.
AC DI-05892
AR NERIB.
DE An autosomal recessive disorder characterized by early infantile
DE onset, progressive neurodegeneration, global developmental delay, and
DE developmental regression with loss of early motor and cognitive
DE milestones. Additional variable features include seizures, ataxia,
DE spasticity, peripheral neuropathy, immune defects, and osteopenia.
DE Treatment with biotin, pantothenic acid, and lipoate may result in
DE clinical improvement.
SY SMVT deficiency.
SY Sodium-dependent multivitamin transporter deficiency.
DR MIM; 618973; phenotype.
DR MedGen; CN283310.
DR MeSH; D020271.
KW KW-0523:Neurodegeneration.
//
ID Neurodevelopmental disorder and language delay with or without structural brain abnormalities.
AC DI-05507
AR NEDLBA.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE global developmental delay with onset in infancy and additional
DE variable features including hypotonia, epilepsy, brain abnormalities
DE such as ventriculomegaly and a small corpus callosum, and autism
DE spectrum disorder.
DR MIM; 618354; phenotype.
DR MedGen; CN258245.
DR MeSH; D000015.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity.
AC DI-05846
AR NEDBASS.
DE An autosomal recessive disorder characterized by global developmental
DE delay, brain abnormalities, mainly ventriculomegaly and/or brain
DE atrophy, intellectual disability, absent speech, peripheral
DE spasticity, and microcephaly. Additional variable features include
DE early-onset seizures, optic atrophy, and dysmorphic facial features.
DE Early death may occur.
DR MIM; 618890; phenotype.
DR MedGen; CN280970.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with absent language and variable seizures.
AC DI-05718
AR NEDALVS.
DE A disorder characterized by neurodevelopmental abnormalities,
DE including moderate to profound intellectual disability, with autistic
DE features, seizures, severe impairments in speech, and gross motor
DE delay.
SY Ito-Raymond syndrome.
DR MIM; 618707; phenotype.
DR MedGen; CN263060.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly.
AC DI-05655
AR NEDAHM.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE intellectual disability, microcephaly, ataxia, and muscular hypotonia.
DR MIM; 618569; phenotype.
DR MedGen; CN262279.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter.
AC DI-05163
AR NDAGSCW.
DE An autosomal dominant neurodevelopmental disorder apparent in infancy
DE and characterized by severe intellectual disability with absent
DE speech, epilepsy, and hypotonia. Additionally, visual problems,
DE musculoskeletal abnormalities, and microcephaly can be present. Brain
DE imaging shows decreased cortical white matter, often with decreased
DE cerebellar white matter, thin corpus callosum, and thin brainstem.
DR MIM; 617807; phenotype.
DR MedGen; CN698604.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia.
AC DI-05720
AR NEDBASH.
DE An autosomal recessive disorder characterized by global developmental
DE delay with severely impaired intellectual development, impaired motor
DE development, axial and peripheral hypotonia, poor speech and
DE significant behavioral abnormalities, including autism spectrum
DE disorder, hyperactivity, mood disorders, aggression, hand and face
DE stereotypies, sleep disturbances, anxiety, self-injurious behavior,
DE and bruxism.
DR MIM; 618718; phenotype.
DR MedGen; CN263069.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
KW KW-1268:Autism spectrum disorder.
//
ID Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies.
AC DI-03799
AR NEDBGF.
DE An autosomal recessive disorder characterized by global developmental
DE delay, impaired intellectual development, and speech delay apparent
DE from infancy or early childhood. Most patients have dysmorphic facial
DE features, and white matter abnormalities on brain imaging. More
DE variable features may include teeth anomalies, distal joint
DE contractures, spasticity, peripheral neuropathy, and behavioral
DE problems.
SY MRT36.
DR MIM; 615286; phenotype.
DR MedGen; C3809039.
DR MedGen; CN178070.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies.
AC DI-05732
AR NEDBAVC.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE severe developmental delay, impaired intellectual development,
DE hypotonia, brain anomalies including cortical volume loss, corpus
DE callosum dysgenesis and cerebellar hypoplasia, and variable dysmorphic
DE features. Patients may have platyspondyly, scoliosis, and cardiac
DE anomalies.
DR MIM; 618731; phenotype.
DR MedGen; CN263123.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis.
AC DI-05663
AR NEDBSS.
DE An autosomal recessive disorder characterized by global developmental
DE delay, severe-to-profound intellectual disability, muscular hypotonia,
DE seizures, brain anomalies, including thin corpus callosum and
DE cerebellar atrophy, scoliosis, and mild facial dysmorphism.
SY Glycosylphosphatidylinositol biosynthesis defect 21.
SY GPIBD21.
DR MIM; 618590; phenotype.
DR MedGen; CN262319.
DR MeSH; D008607.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities.
AC DI-05985
AR NEDCASB.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE global developmental delay, moderate to severe intellectual
DE disability, spastic paraparesis, ataxia, and/or peripheral neuropathy.
DE Patients also exhibit dysmorphic features and congenital microcephaly.
DE Most affected individuals develop progressive hypertrophic
DE cardiomyopathy in childhood or have cardiac developmental anomalies.
DE Brain imaging shows corpus callosum abnormalities in all patients, and
DE perisylvian polymicrogyria-like pattern in some individuals.
DR MIM; 619121; phenotype.
DR MedGen; CN293584.
DR MeSH; D065886.
KW KW-0122:Cardiomyopathy.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies.
AC DI-05656
AR NDCAGF.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE severe global developmental delay with motor impairment, cognitive
DE delays, absent or severely limited speech, dysmorphic features,
DE hypotonia and cataracts.
DR MIM; 618571; phenotype.
DR MedGen; CN262314.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with central and peripheral motor dysfunction.
AC DI-05508
AR NEDCPMD.
DE An autosomal recessive neurodevelopmental disorder with early onset
DE and a highly variable phenotype. Disease features include hypotonia
DE apparent from birth, poor feeding, global developmental delay with
DE absence of reaction to touch and no eye contact, infantile-onset
DE progressive ataxia and demyelinating peripheral neuropathy.
DR MIM; 618356; phenotype.
DR MedGen; CN258246.
DR MeSH; D000015.
DR MeSH; D065886.
//
ID Neurodevelopmental disorder with central hypotonia and dysmorphic facies.
AC DI-06368
AR NEDCHF.
DE An autosomal dominant disease characterized by global developmental
DE delay, impaired intellectual development, seizures, distinctive facial
DE features, scoliosis, delayed closure of the anterior fontanel, and
DE non-specific brain abnormalities.
DR MIM; 619797; phenotype.
DR MedGen; CN307059.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction.
AC DI-06113
AR NEDCAM.
DE An autosomal recessive disorder characterized by global developmental
DE delay with predominantly motor abnormalities, axial hypotonia with
DE decreased or absent reflexes, gait ataxia and appendicular spasticity.
DE Affected individuals have cognitive impairment and speech delay. Brain
DE imaging shows cerebellar atrophy.
DR MIM; 619333; phenotype.
DR MedGen; CN296891.
DR MeSH; D065886.
//
ID Neurodevelopmental disorder with cerebellar atrophy and with or without seizures.
AC DI-05303
AR NEDCAS.
DE An autosomal recessive disorder characterized by psychomotor
DE developmental delay manifesting in infancy, cerebellar atrophy,
DE decreased myelination, and seizures in most patients. Additional
DE features include intellectual disability, ataxia or dyspraxia,
DE hypertonia, hyperreflexia, poor or absent speech, microcephaly, subtle
DE dysmorphisms, and visual impairment in some patients.
DR MIM; 618056; phenotype.
DR MedGen; CN252657.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
//
ID Neurodevelopmental disorder with cerebellar hypoplasia and spasticity.
AC DI-05657
AR NEDCHS.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE global developmental delay, profound intellectual disability,
DE seizures, absent speech, spasticity, facial and limb dysmorphism, and
DE subtle structural brain abnormalities including cerebellar hypoplasia.
DR MIM; 618572; phenotype.
DR MedGen; CN262315.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism.
AC DI-06068
AR NEDCAFD.
DE An autosomal recessive disorder characterized by global developmental
DE delay apparent from birth, moderate-to-severe intellectual disability,
DE poor or absent speech, and hypotonia. Most patients have variable
DE dysmorphic facial features. Brain imaging shows corpus callosum
DE agenesis, mild ventriculomegaly, simplified gyral pattern, and
DE cerebral atrophy.
DR MIM; 619244; phenotype.
DR MedGen; CN296165.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.
AC DI-05608
AR NEDCFSA.
DE An autosomal dominant disorder characterized by global developmental
DE delay, variable intellectual disability, poor language acquisition,
DE and dysmorphic facial features including a prominent nasal bridge and
DE coarse features. Some patients manifest autism spectrum disorder.
DE Musculoskeletal features may be present and include widened and
DE thickened hands and fingers, joint hypermobility, clinodactyly of the
DE fifth fingers, and toe syndactyly.
DR MIM; 618505; phenotype.
DR MedGen; CN260725.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia.
AC DI-06096
AR NEDFACH.
DE An autosomal recessive disorder characterized by global developmental
DE delay, intellectual disability, facial dysmorphism, and abnormalities
DE of the cerebellum observed on brain imaging. Disease severity is
DE variable. Some affected individuals have poor overall growth with
DE microcephaly, delayed walking, spasticity, and poor or absent speech.
DE Others may achieve more significant developmental milestones.
DE Additional variable manifestations may include cardiac ventricular
DE septal defect, spasticity, cataracts, optic nerve hypoplasia,
DE seizures, and joint contractures.
DR MIM; 619306; phenotype.
DR MedGen; CN296589.
DR MeSH; D065886.
KW KW-0523:Neurodegeneration.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
AC DI-05137
AR NEDDFL.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE variable degrees of developmental delay, intellectual disability,
DE speech delay, postnatal microcephaly, dysmorphic features, and mild
DE abnormalities of the hands and feet.
DR MIM; 617755; phenotype.
DR MedGen; CN596206.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies.
AC DI-05703
AR NEDDFSA.
DE An autosomal dominant disorder characterized by intellectual
DE disability, developmental delay, poor language acquisition, behavioral
DE abnormalities, growth failure, feeding difficulties, microcephaly,
DE facial dysmorphism, and mild skeletal anomalies of the hands and feet.
DR MIM; 618659; phenotype.
DR MedGen; CN262874.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum.
AC DI-06198
AR NEDDFAC.
DE An autosomal dominant disorder characterized by global developmental
DE delay, impaired intellectual development with poor or absent speech
DE and language, and autistic-like behaviors. Corpus callosum anomalies
DE are visible on brain imaging. Most patients have dysmorphic features
DE including tall forehead, down-slanting palpebral fissures, ear
DE anomalies and broad nasal bridge. Other variably present clinical
DE features include seizures, sleeping difficulties and precocious
DE puberty.
DR MIM; 619480; phenotype.
DR MedGen; CN300336.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with dysmorphic facies and variable seizures.
AC DI-06069
AR NEDDFAS.
DE An autosomal recessive disorder characterized by global developmental
DE delay apparent in early childhood, mildly impaired intellectual
DE development, speech delay, behavioral abnormalities, and non-specific
DE dysmorphic facial features. Some patients may have seizures, brain
DE imaging abnormalities, mild skeletal defects, and renal abnormalities.
DR MIM; 619264; phenotype.
DR MedGen; CN296333.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia.
AC DI-05909
AR NEDDISH.
DE An autosomal recessive disorder characterized by global developmental
DE delay, mildly to severely impaired intellectual development, poor
DE speech and language acquisition. Some patients may have early normal
DE development with onset of the disorder in the first years of life.
DE More variable neurologic abnormalities include hypotonia, seizures,
DE apnea, mild signs of autonomic or peripheral neuropathy, and autism.
DR MIM; 619005; phenotype.
DR MedGen; CN283362.
DR MeSH; D000015.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities.
AC DI-05983
AR NEDFASB.
DE A neurodevelopmental disorder characterized by severe global
DE developmental delay, intellectual disability, poor or absent language,
DE behavioral abnormalities, severe sleep disturbance, seizures, cerebral
DE malformations, and craniofacial dysmorphism. Progressive cerebellar
DE atrophy is also observed. Additional features may include
DE genitourinary tract anomalies, hearing loss, and mild distal skeletal
DE defects.
DR MIM; 619103; phenotype.
DR MedGen; CN293573.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities.
AC DI-04086
AR NEDDSBA.
DE An autosomal recessive disorder characterized by severely delayed
DE global development, with hypotonia, impaired intellectual development,
DE and poor or absent speech. Most patients have spasticity with limb
DE hypertonia and brisk tendon reflexes. Additional features include non-
DE specific dysmorphic facial features, structural brain abnormalities,
DE and cortical visual impairment.
SY Glycosylphosphatidylinositol biosynthesis defect 9.
SY GPIBD9.
SY MRT42.
DR MIM; 615802; phenotype.
DR MedGen; CN187210.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum.
AC DI-05312
AR NEDEHCC.
DE An autosomal recessive disorder characterized by severe psychomotor
DE delay, intellectual disability, hypotonia, epilepsy, and corpus
DE callosum hypoplasia. Some patients show mild cerebellar hypoplasia and
DE atrophy.
DR MIM; 618090; phenotype.
DR MedGen; CN252703.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination.
AC DI-04969
AR NECFM.
DE A neurodevelopmental disorder characterized by microcephaly, profound
DE developmental delay, intellectual disability, cataracts, severe
DE epilepsy including infantile spasms, irritability, failure to thrive,
DE and stereotypic hand movements. Brain imaging reveals delayed
DE myelination and cerebral atrophy.
DR MIM; 617393; phenotype.
DR MedGen; CN241829.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy.
AC DI-05749
AR NEDESBA.
DE An autosomal recessive disorder characterized by severely impaired
DE global development apparent soon after birth, early-onset seizures,
DE lack of psychomotor development, spastic quadriparesis, progressive
DE cortical and cerebellar atrophy, and dysmorphic features, including
DE microcephaly. Death in childhood may occur.
DR MIM; 618741; phenotype.
DR MedGen; CN263281.
DR MeSH; D065886.
//
ID Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity.
AC DI-04004
AR NEDFCF.
DE An autosomal recessive disorder characterized by impaired intellectual
DE development, microcephaly, delayed psychomotor development, pyramidal
DE signs, thin corpus callosum, and foot deformity.
SY MRT40.
DR MIM; 615599; phenotype.
DR MedGen; C3810080.
DR MedGen; CN183731.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with hearing loss and spasticity.
AC DI-06272
AR NEDHLS.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE hearing loss, global developmental delay, impaired intellectual
DE development, hypotonia, spastic-dystonic cerebral palsy, focal or
DE generalized epilepsy, and microcephaly.
DR MIM; 619616; phenotype.
DR MedGen; CN304367.
DR MeSH; D065886.
KW KW-0209:Deafness.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities.
AC DI-04554
AR NEDHSB.
DE An autosomal recessive disorder characterized by intellectual
DE disability, intractable epilepsy, microcephaly, abnormal muscle tone,
DE and sensorineural hearing loss.
SY EHLMRS.
DR MIM; 616577; phenotype.
DR MedGen; CN233035.
DR MeSH; D004827.
DR MeSH; D006319.
DR MeSH; D008607.
KW KW-0209:Deafness.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with hyperkinetic movements and dyskinesia.
AC DI-06286
AR NEDHYD.
DE An autosomal recessive disorder characterized by severe global
DE developmental delay, axial hypotonia, impaired intellectual
DE development, poor overall growth, and abnormal involuntary
DE hyperkinetic movements.
DR MIM; 619651; phenotype.
DR MedGen; CN305152.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements.
AC DI-05751
AR NEDHAHM.
DE An autosomal dominant disorder characterized by axial hypotonia
DE apparent at birth, global developmental delay, intellectual
DE disability, seizures, and autistic features. Involuntary hyperkinetic
DE movements are present in some patients.
DR MIM; 618760; phenotype.
DR MedGen; CN263233.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with hypotonia and brain abnormalities.
AC DI-06219
AR NEDHYBA.
DE An autosomal dominant disorder characterized by onset in infancy or
DE early childhood, global developmental delay, hypotonia, impaired
DE intellectual development, and poor or absent speech. Additional
DE variable manifestations may be present, including feeding
DE difficulties, seizures, behavioral abnormalities, and non-specific
DE dysmorphic facial features. Brain imaging shows variable
DE abnormalities, including corpus callosum and cerebellar defects, and
DE decreased white matter volume.
DR MIM; 619512; phenotype.
DR MedGen; CN300409.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures.
AC DI-05837
AR NEDHCAS.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE global developmental delay, intellectual disability, hypotonia,
DE cerebellar ataxia, cerebellar atrophy, delayed motor skills, poor or
DE absent speech, and epilepsy in most patients. Some patients manifest
DE facial dysmorphism. Disease onset is in infancy.
SY Glycosylphosphatidylinositol biosynthesis defect 22.
SY GPIBD22.
DR MIM; 618879; phenotype.
DR MedGen; CN280934.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with hypotonia and dysmorphic facies.
AC DI-06217
AR NEDHYDF.
DE An autosomal dominant disorder characterized by global developmental
DE delay, hypotonia, and variably impaired intellectual development,
DE often with speech delay and delayed walking. Most patients have
DE dysmorphic facial features. Clinical features are highly variable and
DE may include congenital cardiac defects, non-specific renal anomalies,
DE joint contractures or joint hyperextensibility, dry skin, and
DE cryptorchidism.
DR MIM; 619503; phenotype.
DR MedGen; CN300394.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with hypotonia and gross motor and speech delay.
AC DI-06284
AR NEDHMS.
DE An autosomal recessive disorder characterized by severe global
DE developmental delay apparent from infancy, axial hypotonia, limited or
DE absent ability to walk, impaired intellectual development, and poor or
DE absent speech. Additional features may include seizures, behavioral
DE problems, distal skeletal anomalies, and facial dysmorphism.
DR MIM; 619639; phenotype.
DR MedGen; CN304980.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities.
AC DI-05667
AR NEDHIB.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE profound infantile-onset hypotonia, developmental delay with poor
DE speech, delayed walking, and impaired intellectual development.
DE Additional variable features include feeding difficulties, dysmorphic
DE features, and visual defects.
DR MIM; 618603; phenotype.
DR MedGen; CN262335.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities.
AC DI-06138
AR NEDHFBA.
DE An autosomal recessive disorder characterized by global developmental
DE delay, severely impaired intellectual development, hypotonia, coarse
DE facial features, and muscle weakness, often resulting in the inability
DE to walk or sit. Additional features include feeding difficulties,
DE respiratory distress, scoliosis, poor visual function, and rotary
DE nystagmus. Brain imaging shows variable abnormalities, including
DE enlarged ventricles, decreased white matter volume, white matter
DE changes, thin corpus callosum, and cerebellar hypoplasia.
DR MIM; 619383; phenotype.
DR MedGen; CN299209.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures.
AC DI-04854
AR NEDHELS.
DE An autosomal recessive disorder characterized by psychomotor delay,
DE epilepsy, intellectual disability, speech impairment and dyskinesia of
DE the limbs. Patients also manifest autistic features and other
DE behavioral abnormalities.
SY DYSEIDD.
SY Dyskinesia, seizures, and intellectual developmental disorder.
DR MIM; 617171; phenotype.
DR MedGen; CN238846.
DR MeSH; D008607.
DR MeSH; D012640.
DR MeSH; D020820.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with hypotonia, microcephaly, and seizures.
AC DI-05827
AR NEDHYMS.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE global developmental delay with axial hypotonia, inability to sit or
DE walk, impaired intellectual development with absent language, and
DE early-onset intractable seizures in most patients. Additional features
DE include poor overall growth, microcephaly, dysmorphic features, poor
DE eye contact due to cortical blindness, and nonspecific brain
DE abnormalities.
DR MIM; 618862; phenotype.
DR MedGen; CN280872.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation.
AC DI-05772
AR NEDHRIT.
DE An autosomal recessive disorder characterized by profound
DE neurodevelopmental disability, muscular hypotonia, feeding
DE abnormalities, recurrent fever episodes, infantile spasms, and
DE moderate dysmorphic facial features. Brain imaging shows thin corpus
DE or dysplastic corpus callosum, and additional unspecific abnormalities
DE including gray matter heterotopias, ectopic posterior pituitary,
DE signal abnormalities in basal ganglia, and stratum subependymale.
DR MIM; 618797; phenotype.
DR MedGen; CN263344.
DR MeSH; D065886.
//
ID Neurodevelopmental disorder with hypotonia, neuropathy, and deafness.
AC DI-05015
AR NEDHND.
DE An autosomal recessive disorder characterized by congenital myopathy
DE with hypotonia and muscle weakness manifesting after birth and
DE progressing to generalized muscle atrophy, central deafness with
DE absent brainstem-evoked potentials, and a combined axonal and
DE demyelinating motor neuropathy.
SY CMND.
SY Myopathy, congenital, with neuropathy and deafness.
DR MIM; 617519; phenotype.
DR MedGen; CN251650.
DR MeSH; D009468.
KW KW-0209:Deafness.
KW KW-0622:Neuropathy.
//
ID Neurodevelopmental disorder with hypotonia, seizures, and absent language.
AC DI-04894
AR NDHSAL.
DE A neurodevelopmental disorder characterized by severely delayed
DE psychomotor development, absent speech, epilepsy, encephalopathy,
DE hypotonia, dystonia/dyskinesia, and macrocephaly. Brain imaging show
DE cerebral atrophy, enlarged ventricles, and white matter abnormalities.
DR MIM; 617268; phenotype.
DR MedGen; CN239935.
DR MeSH; D065886.
//
ID Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language.
AC DI-02856
AR NEDHSIL.
DE An autosomal dominant disorder characterized by impaired intellectual
DE development, absent speech, hypotonia, poor eye contact and
DE stereotypic movements. Dysmorphic features include high broad forehead
DE with variable small chin, short nose with anteverted nares, large open
DE mouth, upslanted palpebral fissures and prominent eyebrows. Some
DE patients have seizures.
SY MRD20.
DR MIM; 613443; phenotype.
DR MedGen; C3150700.
DR MeSH; D004827.
DR MeSH; D008607.
DR MeSH; D019956.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia.
AC DI-05468
AR NEDIDHA.
DE An autosomal recessive disease characterized by global developmental
DE delay, hypotonia, ataxic gait, hyporeflexia, poor or absent speech,
DE and variable and mild dysmorphic features.
DR MIM; 618292; phenotype.
DR MedGen; CN258148.
DR MeSH; D065886.
//
ID Neurodevelopmental disorder with impaired language and ataxia and with or without seizures.
AC DI-06241
AR NEDLAS.
DE An autosomal dominant disorder characterized by axial hypotonia and
DE global developmental delay. Affected individuals show impaired
DE intellectual development, delayed walking, poor speech, and behavioral
DE abnormalities. Some patients have a more severe phenotype with early-
DE onset seizures resembling epileptic encephalopathy, inability to walk
DE or speak, and hypomyelination on brain imaging.
DR MIM; 619580; phenotype.
DR MedGen; CN301097.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with impaired speech and hyperkinetic movements.
AC DI-05564
AR NEDISHM.
DE An autosomal recessive disorder characterized by global developmental
DE delay, impaired intellectual development, delayed walking, poor or
DE absent speech, and a hyperkinetic movement disorder with dystonia,
DE tremor, ataxia, or chorea. Some patients develop seizures.
DR MIM; 618425; phenotype.
DR MedGen; CN258385.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with infantile epileptic spasms.
AC DI-06137
AR NEDIES.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE onset of severe and frequent epileptic spasms within the first year of
DE life. Affected individuals have global developmental delay with
DE delayed walking and poor or absent speech. More variable features may
DE include poor overall growth, high-arched palate, and delayed
DE myelination on brain imaging.
DR MIM; 619373; phenotype.
DR MedGen; CN297468.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with involuntary movements.
AC DI-05010
AR NEDIM.
DE A neurodevelopmental disorder manifesting with a wide range of
DE clinical symptoms. Clinical features range from severe motor and
DE cognitive impairment with marked choreoathetosis, self-injurious
DE behavior and epileptic encephalopathy, to a milder phenotype featuring
DE moderate developmental delay associated with complex stereotypies,
DE mainly facial dyskinesia, and mild epilepsy. Hyperkinetic movements
DE are often exacerbated by specific triggers, such as illness, emotion
DE and high ambient temperature. Some patients have brain abnormalities,
DE such as cerebral atrophy or thin corpus callosum.
DR MIM; 617493; phenotype.
DR MedGen; CN244050.
DR MeSH; D065886.
//
ID Neurodevelopmental disorder with language impairment and behavioral abnormalities.
AC DI-05861
AR NEDLIB.
DE A neurodevelopmental disorder characterized by global developmental
DE delay, impaired intellectual development, poor or absent speech, and
DE behavioral abnormalities, such as autism spectrum disorder, repetitive
DE behaviors, and hyperactivity. Some patients develop seizures and
DE manifest developmental regression.
DR MIM; 618917; phenotype.
DR MedGen; CN283239.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
KW KW-1268:Autism spectrum disorder.
//
ID Neurodevelopmental disorder with microcephaly and gray sclerae.
AC DI-04776
AR NEDMIGS.
DE An autosomal recessive disorder characterized by global developmental
DE delay, hypotonia, profoundly impaired intellectual development with
DE poor or absent language, mild microcephaly, abnormal visual fixation,
DE and seizures in most patients. Affected individuals also have gray
DE sclerae.
SY MRT55.
DR MIM; 617051; phenotype.
DR MedGen; CN237814.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with microcephaly and structural brain anomalies.
AC DI-05606
AR NEDMIBA.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE global developmental delay, severe intellectual disability,
DE microcephaly, dysmorphic facial features, and cerebral malformations
DE including simplification of cerebral gyration, agenesis of the corpus
DE callosum, and brainstem and white matter hypoplasia.
DR MIM; 618492; phenotype.
DR MedGen; CN260577.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies.
AC DI-05678
AR NEDMABA.
DE An autosomal recessive disorder characterized by severe global
DE developmental delay, severely impaired intellectual development with
DE poor or absent speech, severe encephalopathy, microcephaly with
DE simplified gyral pattern, hypomyelination, thin corpus callosum, mild
DE cerebellar hypoplasia, brainstem hypoplasia, congenital
DE arthrogryposis, dysmorphic features, and respiratory problems often
DE leading to early demise.
DR MIM; 618622; phenotype.
DR MedGen; CN262441.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with microcephaly, ataxia, and seizures.
AC DI-05110
AR NEDMAS.
DE An autosomal recessive disorder characterized by delayed psychomotor
DE development, intellectual disability, seizures apparent in infancy,
DE impaired speech, and aggressive behavior. Additional features include
DE microcephaly, ataxia, and muscle weakness.
DR MIM; 617709; phenotype.
DR MedGen; CN525653.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities.
AC DI-05220
AR NEDMCR.
DE An autosomal recessive, severe neurodevelopmental disorder
DE characterized by global developmental delay since infancy,
DE microcephaly, poor or absent speech, and inability to walk or
DE spasticity. Additional features include renal abnormalities,
DE congenital cataracts, gastroesophageal reflux disease, seizures with
DE onset in infancy or childhood, hyporeflexia, and non-specific white
DE matter abnormalities on brain imaging.
DR MIM; 617913; phenotype.
DR MedGen; CN889218.
DR MeSH; D000015.
//
ID Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity.
AC DI-05731
AR NEDMCMS.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE developmental delay, severe to profound intellectual disability,
DE congenital microcephaly, cortical polymicrogyria, lissencephaly,
DE reduced central white matter volume, and drug-resistant epilepsy, lack
DE of speech, absent ambulation and a progressive neurodegenerative
DE course in most patients. Early death may occur in some patients.
DR MIM; 618730; phenotype.
DR MedGen; CN263147.
DR MeSH; D065886.
KW KW-0451:Lissencephaly.
KW KW-0523:Neurodegeneration.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy.
AC DI-05188
AR NEDMEBA.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE microcephaly, global developmental delay, hypotonia, intellectual
DE disability, autistic features such as poor social interaction,
DE language impairment and repetitive automatism behaviors, and
DE generalized tonic-clonic seizures. Brain imaging shows cortical
DE atrophy, thin corpus callosum, and cerebellar and brainstem atrophy.
DR MIM; 617862; phenotype.
DR MedGen; CN787271.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination.
AC DI-05514
AR NEDMEHM.
DE An autosomal recessive neurodevelopmental disorder with onset at birth
DE or in early infancy, and characterized by microcephaly, short stature,
DE severe global developmental delay, progressive spasticity, and
DE epilepsy. Brain imaging shows delayed myelination, hypomyelination,
DE enlarged ventricles, and cerebellar atrophy.
DR MIM; 618367; phenotype.
DR MedGen; CN258265.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
//
ID Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies.
AC DI-05004
AR NMIHBA.
DE An autosomal recessive neurodevelopmental and degenerative disorder
DE characterized by primary microcephaly, profound global developmental
DE delay, and severe intellectual disability. Additional clinical
DE features include dysmorphic features, truncal hypotonia, peripheral
DE spasticity, and lack of independent ambulation or speech acquisition.
DE Brain imaging shows cortical atrophy, thin corpus callosum, cerebellar
DE hypoplasia, and delayed myelination.
DR MIM; 617481; phenotype.
DR MedGen; CN243994.
DR MeSH; D065886.
KW KW-0523:Neurodegeneration.
KW KW-0905:Primary microcephaly.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities.
AC DI-05962
AR NEDMILG.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE global developmental delay apparent in infancy, moderate to profound
DE intellectual disability, poor or absent speech and language, delayed
DE walking with variable gait abnormalities, and progressive
DE microcephaly. Additional variable features include hypotonia, early-
DE onset seizures, and a peripheral demyelinating or axonal peripheral
DE sensorimotor neuropathy.
DR MIM; 619091; phenotype.
DR MedGen; CN293519.
DR MeSH; D065886.
KW KW-0523:Neurodegeneration.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities.
AC DI-05963
AR NEDMILEG.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE global developmental delay apparent in infancy, delayed walking,
DE ataxia, spasticity, impaired intellectual development with poor or
DE absent speech and language, progressive microcephaly, and early-onset
DE seizures in most patients. Facial dysmorphism and a demyelinating
DE peripheral neuropathy may also be observed.
DR MIM; 619092; phenotype.
DR MedGen; CN293520.
DR MeSH; D065886.
KW KW-0523:Neurodegeneration.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy.
AC DI-05953
AR NEDMISB.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE severe global developmental delay, developmental regression with loss
DE of milestones, severe microcephaly, and brain abnormalities, primarily
DE cerebral atrophy and hypoplasia of the corpus callosum. Affected
DE individuals develop seizures in the first year of life. Death in
DE childhood may occur.
DR MIM; 619076; phenotype.
DR MedGen; CN293422.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
//
ID Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy.
AC DI-05161
AR NDMSCA.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE severe developmental delay, intellectual disability, severe
DE microcephaly, and cortical atrophy.
DR MIM; 617802; phenotype.
DR MedGen; CN679649.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis.
AC DI-06302
AR NEDMSC.
DE An autosomal recessive disorder with onset at birth, characterized by
DE severe global developmental delay, profoundly impaired intellectual
DE development, progressive microcephaly, seizures, and transient
DE neonatal cholestasis. Brain imaging shows agenesis or hypoplasia of
DE the corpus callosum. Death in early childhood may occur.
DR MIM; 619685; phenotype.
DR MedGen; CN305736.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
KW KW-0988:Intrahepatic cholestasis.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with midbrain and hindbrain malformations.
AC DI-05017
AR NEDMHM.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE intellectual disability, speech delay, mild microcephaly, midbrain-
DE hindbrain malformations, and variable dysmorphic features.
DR MIM; 617523; phenotype.
DR MedGen; CN258423.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities.
AC DI-06187
AR NEDMOSBA.
DE An autosomal recessive disorder characterized by global developmental
DE delay, impaired intellectual development, speech delay, delayed
DE walking, and behavioral abnormalities. Some patients develop spastic
DE tetraplegia with inability to walk independently and never gain proper
DE speech. Affected individuals may have variable additional features,
DE including poor overall growth, hypotonia, tremor, ocular anomalies,
DE seizures, and non-specific dysmorphic facial features.
DR MIM; 619470; phenotype.
DR MedGen; CN300330.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features.
AC DI-05190
AR NEDMAGA.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE infantile-onset global developmental delay, severe to profound
DE intellectual disability, mildly delayed walking with broad-based and
DE unsteady gait, and absence of meaningful language. Patients have
DE features of autism, with repetitive behaviors and poor communication,
DE but usually are socially reactive and have a happy demeanor. More
DE variable neurologic features include mild seizures, spasticity, and
DE peripheral neuropathy.
DR MIM; 617865; phenotype.
DR MedGen; CN800196.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties.
AC DI-04309
AR NEDRIHF.
DE An autosomal dominant disorder characterized by severe neonatal
DE hypotonia, respiratory and feeding difficulties, encephalopathy, and
DE severe developmental delay. Additional common features may include
DE seizures, exaggerated startle reflex, abnormal movements, and
DE dysmorphic facial features.
SY MRD31.
DR MIM; 616158; phenotype.
DR MedGen; CN224984.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures.
AC DI-05719
AR NEDBAS.
DE An autosomal dominant disorder characterized by developmental delay,
DE intellectual disability, seizures, autism spectrum disorder,
DE behavioral abnormalities, and variable non-specific brain
DE malformations.
SY Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures.
DR MIM; 618709; phenotype.
DR MedGen; CN263062.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
KW KW-1268:Autism spectrum disorder.
//
ID Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart.
AC DI-04746
AR NEDBEH.
DE An autosomal dominant syndrome characterized by developmental delay,
DE intellectual disability, brain anomalies, and neurological
DE abnormalities including seizures, hypotonia, and behavioral problems
DE such as autism spectrum disorders. Brain anomalies include
DE abnormalities and/or thinning of the corpus callosum, diminished white
DE matter volume, abnormal cerebellar vermis, and ventriculomegaly.
DE Congenital defects of the eye, heart and genitourinary system are
DE present in half of the patients.
DR MIM; 616975; phenotype.
DR MedGen; CN236788.
DR MeSH; D000015.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with or without autism or seizures.
AC DI-06062
AR NEDAUS.
DE An autosomal dominant disorder manifesting in infancy and
DE characterized by global developmental delay, variably impaired
DE intellectual development, and speech delay. Some patients have
DE seizures, others have autistic features or behavioral abnormalities.
DE Additional variable features include cardiac defects, failure to
DE thrive, or brain imaging anomalies.
DR MIM; 619239; phenotype.
DR MedGen; CN295979.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
KW KW-1268:Autism spectrum disorder.
//
ID Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities.
AC DI-05826
AR NEDASB.
DE An early-onset neurodevelopmental disorder characterized by
DE intellectual disability, motor and speech delay, autistic features,
DE hypotonia, feeding difficulties, spasticity or ataxic gait, and
DE structural brain abnormalities including cerebral atrophy, cerebellar
DE atrophy, and/or thin corpus callosum.
DR MIM; 618859; phenotype.
DR MedGen; CN280871.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
KW KW-1268:Autism spectrum disorder.
//
ID Neurodevelopmental disorder with or without early-onset generalized epilepsy.
AC DI-06010
AR NEDEGE.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE global developmental delay, variably impaired intellectual
DE development, speech delay, and behavioral abnormalities including
DE autism or autistic features, attention deficits and hyperactivity, or
DE aggressive behavior. About half of patients develop early-onset
DE generalized epilepsy with different seizure types. The disease is
DE apparent from infancy or early childhood.
DR MIM; 619157; phenotype.
DR MedGen; CN295223.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant.
AC DI-05176
AR NDHMSD.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE severe intellectual disability and developmental delay, absent speech,
DE muscular hypotonia, dyskinesia, and hyperkinetic movements. Cortical
DE blindness, cerebral atrophy, and seizures are present in some
DE patients.
SY MRD8.
DR MIM; 614254; phenotype.
DR MedGen; C3280282.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive.
AC DI-05175
AR NDHMSR.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE severe intellectual disability and psychomotor developmental delay,
DE involuntary and stereotypic movements, spasticity, and inability to
DE walk without support. Intractable seizures manifest in some patients.
DR MIM; 617820; phenotype.
DR MedGen; CN737161.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with or without seizures and gait abnormalities.
AC DI-05189
AR NEDSGA.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE global developmental delay apparent from infancy or early childhood,
DE mild to profound intellectual disability, hypertonia early in life,
DE which progresses to spasticity and impaired gait later, and behavioral
DE abnormalities. Some patients may develop seizures of variable severity
DE early in life.
DR MIM; 617864; phenotype.
DR MedGen; CN800195.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with or without variable brain abnormalities.
AC DI-05574
AR NEDBA.
DE A disorder characterized by global developmental delay, impaired
DE intellectual development, delayed walking, poor or absent speech, and
DE variable brain anomalies including perisylvian polymicrogyria,
DE cerebral or cerebellar atrophy, and hypoplasia of the corpus callosum.
DR MIM; 618443; phenotype.
DR MedGen; CN258765.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with or without variable movement or behavioral abnormalities.
AC DI-06324
AR NEDMAB.
DE An autosomal dominant disorder characterized by motor and language
DE developmental delay, intellectual disability often associated with
DE early-onset movement disorders comprising cerebellar ataxia and/or
DE extrapyramidal symptoms. Other variable features include autism
DE spectrum disorder or autistic features and epilepsy.
DR MIM; 619725; phenotype.
DR MedGen; CN306201.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with poor language and loss of hand skills.
AC DI-05213
AR NDPLHS.
DE An autosomal dominant disorder characterized by psychomotor
DE developmental stagnation or regression. NDPLHS manifest in the first
DE years of life as loss of purposeful hand movements, loss of language,
DE and intellectual disability.
DR MIM; 617903; phenotype.
DR MedGen; CN870852.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies.
AC DI-05021
AR NDMSBA.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE progressive microcephaly, spastic quadriparesis, global developmental
DE delay, profound intellectual disability and severely impaired or
DE absent motor function. More variable features include seizures and
DE optic atrophy.
DR MIM; 617527; phenotype.
DR MedGen; CN265047.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities.
AC DI-04491
AR NEDMISBA.
DE An autosomal recessive disorder characterized by impaired intellectual
DE development with poor speech, progressive microcephaly, and
DE appendicular spasticity. Brain imaging usually shows abnormalities,
DE including enlarged ventricles, white matter defects, and atrophy or
DE hypoplasia of brain tissue. Some patients have a more severe phenotype
DE with seizures, lack of developmental milestones, and early death.
SY MCPH15.
SY Microcephaly 15, primary, autosomal recessive.
DR MIM; 616486; phenotype.
DR MedGen; CN231738.
DR MeSH; D008831.
KW KW-0905:Primary microcephaly.
//
ID Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities.
AC DI-05922
AR NEDSWMA.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE developmental delay manifesting in infancy, inability to walk
DE independently, mild to severe intellectual disability, poor overall
DE growth, progressive microcephaly, and axial hypotonia. Additional
DE variable features include brainstem and cerebellar involvement,
DE seizures, joint contractures, ocular disturbances, episodic
DE respiratory failure, and facial dysmorphism.
SY Cerebral palsy, spastic quadriplegic, 1.
SY CPSQ1.
DR MIM; 619026; phenotype.
DR MedGen; CN283413.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures.
AC DI-05310
AR NEDAMSS.
DE An autosomal dominant disorder characterized by global developmental
DE delay or neurodevelopmental regression, hypotonia, progressive ataxia,
DE intellectual disability, seizures, and abnormal movements.
DR MIM; 618088; phenotype.
DR MedGen; CN252701.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with seizures and brain abnormalities.
AC DI-06220
AR NEDSBA.
DE An autosomal recessive neurologic disorder characterized by global
DE developmental delay and onset of seizures in the first months of life,
DE and structural brain defects on brain imaging. Additional features may
DE include pigmentary retinopathy with poor visual fixation and
DE spasticity.
DR MIM; 619517; phenotype.
DR MedGen; CN300410.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
//
ID Neurodevelopmental disorder with seizures and brain atrophy.
AC DI-05952
AR NEDSEBA.
DE An autosomal recessive disorder characterized by brain atrophy,
DE seizures, and developmental delay. Disease severity is variable.
DE Severely affected individuals develop symptoms in utero, which may
DE lead to spontaneous abortion. Patients at the mildest end of the
DE phenotypic spectrum have onset of seizures later in childhood and show
DE developmental delay with mildly impaired intellectual development and
DE minimal brain atrophy.
DR MIM; 619072; phenotype.
DR MedGen; CN293421.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
//
ID Neurodevelopmental disorder with seizures and gingival overgrowth.
AC DI-06108
AR NEDSGO.
DE An autosomal recessive disorder with variable clinical manifestations
DE including delayed development, hypotonia, seizures, gingival
DE hypertrophy associated with a prominent mandible or cherubism in the
DE first years of life. Some patients have early normal development
DE followed by developmental regression. Additional variable features are
DE coarse facial features, optic atrophy, sensorineural hearing loss, and
DE ataxia. Brain imaging may show cerebellar or cerebral atrophy and
DE enlarged ventricles.
DR MIM; 619323; phenotype.
DR MedGen; CN296788.
DR MeSH; D065886.
//
ID Neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements.
AC DI-05607
AR NEDNEH.
DE An autosomal recessive, complex and progressive neurologic disorder
DE characterized by severe neurodevelopmental delay and developmental
DE regression, epileptic encephalopathy, postnatal microcephaly,
DE hypotonia, and non-epileptic hyperkinetic movement disorder, including
DE myoclonus dystonia, choreoathetosis, or generalized dyskinesia.
DE Disease onset in infancy or first years of life.
SY Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements.
DR MIM; 618497; phenotype.
DR MedGen; CN260601.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with seizures and speech and walking impairment.
AC DI-05598
AR NEDSSWI.
DE An autosomal recessive disorder characterized by global developmental
DE delay with intellectual disability and poor speech acquisition, and
DE walking difficulties due to hypotonia, hypertonia, spasticity, or poor
DE coordination. Additional features include seizures, mild dysmorphic
DE features, and variable short stature.
DR MIM; 618480; phenotype.
DR MedGen; CN260174.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities.
AC DI-05868
AR NEDSHBA.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE global developmental delay, hypotonia, severe to profound intellectual
DE disability, early-onset epilepsy, and microcephaly. Neuroimaging shows
DE cerebral atrophy, thin corpus callosum and hypomyelination in a
DE majority of cases. Death in childhood may occur.
DR MIM; 618922; phenotype.
DR MedGen; CN283267.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with severe motor impairment and absent language.
AC DI-05162
AR NEDMIAL.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE global developmental delay, intellectual disability, severe speech
DE impairment and gait abnormalities.
DR MIM; 617804; phenotype.
DR MedGen; CN703736.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with spastic diplegia and visual defects.
AC DI-03652
AR NEDSDV.
DE An autosomal dominant disorder characterized by global developmental
DE delay, severe intellectual disability with absent or very limited
DE speech, microcephaly, spasticity, and visual abnormalities.
SY MRD19.
DR MIM; 615075; phenotype.
DR MedGen; C3554449.
DR MedGen; CN165603.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with spastic paraplegia and microcephaly.
AC DI-04363
AR NEDSPM.
DE An autosomal recessive syndrome characterized by severe psychomotor
DE developmental delay, dysarthria, walking difficulties, moderately to
DE severely impaired intellectual development, poor or absent speech, and
DE progressive microcephaly.
SY MRT49.
DR MIM; 616281; phenotype.
DR MedGen; CN228786.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures.
AC DI-05249
AR NEDSBAS.
DE An autosomal recessive disorder characterized by profound
DE developmental delay, progressive spastic quadriplegia and
DE contractures, early-onset refractory epilepsy in most patients, and
DE brain malformations. Neuroimaging shows ventriculomegaly, reduced
DE cerebral white matter volume, and thinning of cerebral gray matter.
DR MIM; 617977; phenotype.
DR MedGen; CN244929.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
//
ID Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies.
AC DI-05697
AR NEDSOSB.
DE An autosomal recessive, congenital neurodevelopmental disorder
DE characterized by intrauterine growth retardation, microcephaly, marked
DE developmental delay, spastic quadriplegia with profound contractures,
DE pseudobulbar palsy with recurrent aspirations, epilepsy, dysmorphism,
DE neurosensory deafness, optic nerve atrophy with no eye fixation, and
DE death in early childhood. Brain imaging shows semilobar
DE holoprosencephaly and agenesis of corpus callosum.
DR MIM; 618651; phenotype.
DR MedGen; CN262656.
DR MeSH; D065886.
//
ID Neurodevelopmental disorder with spasticity and poor growth.
AC DI-05305
AR NEDSG.
DE An autosomal recessive disorder apparent soon after birth or in early
DE infancy. NEDSG is characterized by axial hypotonia, delayed
DE psychomotor development, poor feeding, failure to thrive, peripheral
DE spasticity with hyperreflexia, poor overall growth, and microcephaly
DE in most patients. Additional variable features include contractures,
DE facial dysmorphisms, and ocular movement abnormalities.
DR MIM; 618076; phenotype.
DR MedGen; CN252685.
DR MeSH; D065886.
//
ID Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia.
AC DI-06070
AR NEDSCAC.
DE An autosomal recessive disorder characterized by global developmental
DE delay, impaired intellectual development, and poor or absent speech.
DE More severely affected individuals do not achieve independent
DE ambulation, whereas others develop some speech and can walk, or show
DE regression later in childhood. Additional features include axial
DE hypotonia, peripheral spasticity, dystonia, cataracts, and seizures.
DE Brain imaging usually shows cerebellar hypoplasia, thin corpus
DE callosum, cerebral atrophy, and hypomyelination.
DR MIM; 619286; phenotype.
DR MedGen; CN296469.
DR MeSH; D065886.
KW KW-0898:Cataract.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities.
AC DI-04528
AR NEDSPLB.
DE A severe autosomal recessive disorder characterized by global
DE developmental delay with impaired intellectual development and poor or
DE absent speech, axial hypotonia, and peripheral spasticity and
DE hyperreflexia. Brain imaging shows hypomyelination with decreased
DE white matter volume, cerebral and cerebellar atrophy, and thin corpus
DE callosum. Polymicrogyria may be observed in rare cases. Some patients
DE have a primary immunodeficiency or gastrointestinal disturbances
DE similar to inflammatory bowel disease.
SY PMGYCHA.
SY Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis.
DR MIM; 616531; phenotype.
DR MedGen; CN232389.
DR MeSH; D054220.
//
ID Neurodevelopmental disorder with speech impairment and dysmorphic facies.
AC DI-05944
AR NEDSID.
DE An autosomal dominant disorder characterized by global developmental
DE delay, intellectual disability, speech delay, subtle facial
DE dysmorphism, and behavioral and psychiatric problems.
DR MIM; 619056; phenotype.
DR MedGen; CN293373.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies.
AC DI-05658
AR NEDBAF.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE global developmental delay, severe intellectual disability, poor
DE language, seizures, dysmorphic features, and thin corpus callosum.
DR MIM; 618577; phenotype.
DR MedGen; CN262311.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder with visual defects and brain anomalies.
AC DI-05639
AR NEDVIBA.
DE A disorder characterized by global developmental delay, speech delay,
DE intellectual disability, structural brain abnormalities, and visual
DE impairments including retinitis pigmentosa and optic atrophy.
DR MIM; 618547; phenotype.
DR MedGen; CN262197.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures.
AC DI-05113
AR NEMMLAS.
DE An autosomal recessive, mitochondrial disorder with a broad phenotypic
DE spectrum ranging from severe neonatal lactic acidosis,
DE encephalomyopathy and early death to an attenuated course with milder
DE manifestations. Clinical features include delayed psychomotor
DE development, intellectual disability, hypotonia, dystonia, ataxia, and
DE spasticity. Severe combined respiratory chain deficiency may be found
DE in severely affected individuals.
DR MIM; 617710; phenotype.
DR MedGen; CN525654.
DR MeSH; D028361.
KW KW-1274:Primary mitochondrial disease.
//
ID Neurodevelopmental disorder, non-progressive, with spasticity and transient opisthotonus.
AC DI-06287
AR NEDSTO.
DE An autosomal recessive disorder characterized by delayed motor
DE milestones, delayed walking, speech delay, axial hypotonia, and
DE peripheral spasticity apparent from infancy or early childhood.
DE Affected individuals often show transient opisthotonic posturing in
DE infancy, and later show abnormal involuntary movements. Variably
DE impaired intellectual development, and brain myelination defects are
DE present in some patients.
DR MIM; 619653; phenotype.
DR MedGen; CN305249.
DR MeSH; D065886.
//
ID Neurodevelopmental, jaw, eye, and digital syndrome.
AC DI-05858
AR NEDJED.
DE An autosomal dominant syndrome characterized by variable features
DE including mild-to-severe developmental delay, speech delay, autistic
DE and/or stereotypical behaviors, ocular anomalies, under- or
DE overdeveloped jaw, and digital anomalies such as brachydactyly,
DE clinodactyly, syndactyly, and contractures.
DR MIM; 618914; phenotype.
DR MedGen; CN282599.
DR MeSH; D009140.
DR MeSH; D065886.
//
ID Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities.
AC DI-06224
AR NECRC.
DE An autosomal dominant disorder characterized by dysmorphic
DE craniofacial features, mild developmental delay, mildly impaired
DE intellectual development or learning difficulties, speech delay, and
DE behavioral abnormalities. About half of patients have congenital
DE anomalies of the kidney and urinary tract and/or congenital cardiac
DE defects, including septal defects.
DR MIM; 619522; phenotype.
DR MedGen; CN300451.
DR MeSH; D006330.
DR MeSH; D014564.
DR MeSH; D019465.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurofacioskeletal syndrome with or without renal agenesis.
AC DI-06053
AR NFSRA.
DE An autosomal recessive syndrome characterized by developmental delay
DE and/or intellectual disability, corpus callosum agenesis or
DE hypoplasia, flexion contractures, brachydactyly of hands and feet with
DE broad fingertips and toes, and dysmorphic features such as coarse
DE face, upslanted palpebral fissures, broad nasal tip and wide mouth.
DE Some patients manifest unilateral or bilateral renal agenesis.
SY Neurodevelopmental disorder with corpus callosum agenesis, craniofacial dysmorphism, and skeletal anomalies, with or without renal agenesis.
DR MIM; 619194; phenotype.
DR MedGen; CN295290.
DR MeSH; D000015.
KW KW-0991:Intellectual disability.
//
ID Neurofibromatosis 1.
AC DI-02396
AR NF1.
DE A disease characterized by patches of skin pigmentation (cafe-au-lait
DE spots), Lisch nodules of the iris, tumors in the peripheral nervous
DE system and fibromatous skin tumors. Individuals with the disorder have
DE increased susceptibility to the development of benign and malignant
DE tumors.
SY Neurofibromatosis peripheral type.
SY Von Recklinghausen disease.
SY von Recklinghausen syndrome.
DR MIM; 162200; phenotype.
DR MedGen; C0027831.
DR MeSH; D009456.
//
ID Neurofibromatosis 2.
AC DI-02045
AR NF2.
DE Genetic disorder characterized by bilateral vestibular schwannomas
DE (formerly called acoustic neuromas), schwannomas of other cranial and
DE peripheral nerves, meningiomas, and ependymomas. It is inherited in an
DE autosomal dominant fashion with full penetrance. Affected individuals
DE generally develop symptoms of eighth-nerve dysfunction in early
DE adulthood, including deafness and balance disorder. Although the
DE tumors of NF2 are histologically benign, their anatomic location makes
DE management difficult, and patients suffer great morbidity and
DE mortality.
SY Central neurofibromatosis.
DR MIM; 101000; phenotype.
DR MedGen; C0027832.
DR MedGen; C1136042.
DR MedGen; C1136043.
DR MedGen; C2931896.
//
ID Neurofibromatosis-Noonan syndrome.
AC DI-02047
AR NFNS.
DE Characterized by manifestations of both NF1 and Noonan syndrome (NS).
DE NS is a disorder characterized by dysmorphic facial features, short
DE stature, hypertelorism, cardiac anomalies, deafness, motor delay, and
DE a bleeding diathesis.
DR MIM; 601321; phenotype.
DR MedGen; C2931482.
//
ID Neurogenic scapuloperoneal syndrome Kaeser type.
AC DI-02049
AR Kaeser syndrome.
DE Autosomal dominant disorder with a peculiar scapuloperoneal
DE distribution of weakness and atrophy. A large clinical variability is
DE observed ranging from scapuloperoneal, limb grindle and distal
DE phenotypes with variable cardiac or respiratory involvement. Facial
DE weakness, dysphagia and gynaecomastia are frequent additional
DE symptoms. Affected men seemingly bear a higher risk of sudden, cardiac
DE death as compared to affected women. Histological and
DE immunohistochemical examination of muscle biopsy specimens reveal a
DE wide spectrum of findings ranging from near normal or unspecific
DE pathology to typical, myofibrillar changes with accumulation of
DE desmin.
DR MIM; 181400; phenotype.
DR MedGen; C1867005.
//
ID Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1.
AC DI-04353
AR IMNEPD1.
DE A progressive multisystem disease characterized by a variety of
DE neurologic, endocrine, and, in some patients, pancreatic features.
DE Variable clinical symptoms include global developmental delay,
DE hypotonia, hearing loss, ataxia, hyporeflexia, facial dysmorphism,
DE hypothyroidism, and pancreatic insufficiency.
SY IMNEPD.
DR MIM; 616263; phenotype.
DR MedGen; CN228418.
DR MeSH; D000015.
//
ID Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2.
AC DI-06161
AR IMNEPD2.
DE An autosomal recessive disorder with variable clinical manifestations
DE and severity. Main features include cholestatic hepatitis, poor
DE feeding, poor overall growth, and hypoglycemia apparent from infancy.
DE Most patients have variable global developmental delay, sensorineural
DE deafness, retinal abnormalities with visual defects, and hypotonia.
DE Some patients have endocrine abnormalities. Brain imaging often shows
DE dysmyelination, thin corpus callosum, cerebral atrophy, and white
DE matter abnormalities. Death in early childhood may occur.
DR MIM; 619418; phenotype.
DR MedGen; CN299634.
DR MeSH; D000015.
//
ID Neuromuscular oculoauditory syndrome.
AC DI-05734
AR NMOAS.
DE An autosomal dominant neuromuscular disorder characterized by variable
DE features including myopathy, neuropathy, hypotonia, joint
DE contractures, growth delay, chorioretinal lacunae, sensorineuronal
DE deafness, agenesis of the corpus callosum, and seizures.
SY Neuromuscular disease and ocular or auditory anomalies with or without seizures.
DR MIM; 618733; phenotype.
DR MedGen; CN263124.
DR MeSH; D009468.
KW KW-0622:Neuropathy.
//
ID Neuromyotonia and axonal neuropathy, autosomal recessive.
AC DI-03603
AR NMAN.
DE An autosomal recessive neurologic disorder characterized by onset in
DE the first or second decade of a peripheral axonal neuropathy
DE predominantly affecting motor more than sensory nerves. The axonal
DE neuropathy is reminiscent of Charcot-Marie-Tooth disease type 2 and
DE distal hereditary motor neuropathy. Individuals with NMAN also have
DE delayed muscle relaxation and action myotonia associated with
DE neuromyotonic discharges on needle EMG resulting from
DE hyperexcitability of the peripheral nerves.
SY Gamstorp-Wohlfart syndrome.
SY Myokymia myotonia and muscle wasting.
DR MIM; 137200; phenotype.
DR MedGen; CN074193.
DR MeSH; D020386.
KW KW-0622:Neuropathy.
//
ID Neuronal intranuclear inclusion disease.
AC DI-05726
AR NIID.
DE An autosomal dominant, slowly progressive, neurodegenerative disease
DE characterized by eosinophilic hyaline intranuclear inclusions in the
DE central and peripheral nervous system, and also in the visceral
DE organs. Clinical manifestations are variable and include pyramidal and
DE extrapyramidal symptoms, cerebellar ataxia, cognitive decline and
DE dementia, peripheral neuropathy, and autonomic dysfunction.
DR MIM; 603472; phenotype.
DR MedGen; C1863843.
DR MeSH; D019636.
KW KW-0523:Neurodegeneration.
//
ID Neuronopathy, distal hereditary motor, 2A.
AC DI-00400
AR HMN2A.
DE A neuromuscular disorder. Distal hereditary motor neuronopathies
DE constitute a heterogeneous group of neuromuscular disorders caused by
DE selective degeneration of motor neurons in the anterior horn of the
DE spinal cord, without sensory deficit in the posterior horn. The
DE overall clinical picture consists of a classical distal muscular
DE atrophy syndrome in the legs without clinical sensory loss. The
DE disease starts with weakness and wasting of distal muscles of the
DE anterior tibial and peroneal compartments of the legs. Later on,
DE weakness and atrophy may expand to the proximal muscles of the lower
DE limbs and/or to the distal upper limbs.
SY Charcot-Marie-Tooth disease spinal IIA.
SY dHMN2A.
SY Distal hereditary motor neuropathy type IIA.
SY HMN IIA.
SY Spinal muscular atrophy distal adult autosomal dominant IIA.
DR MIM; 158590; phenotype.
DR MedGen; C1834692.
DR MeSH; D009134.
KW KW-0523:Neurodegeneration.
KW KW-0622:Neuropathy.
//
ID Neuronopathy, distal hereditary motor, 2B.
AC DI-00401
AR HMN2B.
DE A neuromuscular disorder. Distal hereditary motor neuronopathies
DE constitute a heterogeneous group of neuromuscular disorders caused by
DE selective degeneration of motor neurons in the anterior horn of the
DE spinal cord, without sensory deficit in the posterior horn. The
DE overall clinical picture consists of a classical distal muscular
DE atrophy syndrome in the legs without clinical sensory loss. The
DE disease starts with weakness and wasting of distal muscles of the
DE anterior tibial and peroneal compartments of the legs. Later on,
DE weakness and atrophy may expand to the proximal muscles of the lower
DE limbs and/or to the distal upper limbs.
SY dHMN2B.
SY dHMN II.
SY Distal hereditary motor neuropathy type IIB.
SY HMN IIB.
DR MIM; 608634; phenotype.
DR MedGen; C2608087.
DR MeSH; D009134.
KW KW-0523:Neurodegeneration.
KW KW-0622:Neuropathy.
//
ID Neuronopathy, distal hereditary motor, 2C.
AC DI-02769
AR HMN2C.
DE A neuromuscular disorder. Distal hereditary motor neuronopathies
DE constitute a heterogeneous group of neuromuscular disorders caused by
DE selective degeneration of motor neurons in the anterior horn of the
DE spinal cord, without sensory deficit in the posterior horn. The
DE overall clinical picture consists of a classical distal muscular
DE atrophy syndrome in the legs without clinical sensory loss. The
DE disease starts with weakness and wasting of distal muscles of the
DE anterior tibial and peroneal compartments of the legs. Later on,
DE weakness and atrophy may expand to the proximal muscles of the lower
DE limbs and/or to the distal upper limbs.
SY dHMN2C.
SY dHMN IIC.
SY Distal hereditary motor neuropathy type IIC.
SY HMN IIC.
DR MIM; 613376; phenotype.
DR MedGen; C3150619.
DR MeSH; D009134.
KW KW-0523:Neurodegeneration.
KW KW-0622:Neuropathy.
//
ID Neuronopathy, distal hereditary motor, 2D.
AC DI-03987
AR HMN2D.
DE A disorder characterized by onset of slowly progressive distal lower
DE limb weakness and atrophy between the second and fourth decades of
DE life. Weakness usually begins in the calf muscles and later involves
DE more proximal muscles. The severity is variable, and some patients
DE have difficulty walking or running. Most also have upper limb
DE involvement, particularly of the triceps and intrinsic hand muscles.
DE Some patients may lose independent ambulation later in the disease
DE course. Sensory impairment is typically not present, and cognition and
DE bulbar function are normal.
SY Autosomal dominant spinal muscular atrophy distal calf-predominant.
SY dHMN2D.
SY dHMN IID.
SY Distal hereditary motor neuropathy type IID.
SY HMN IID.
DR MIM; 615575; phenotype.
DR MedGen; C3711384.
DR MedGen; CN185294.
DR MeSH; D009134.
KW KW-0523:Neurodegeneration.
KW KW-0622:Neuropathy.
//
ID Neuronopathy, distal hereditary motor, 5A.
AC DI-00402
AR HMN5A.
DE A disorder characterized by distal muscular atrophy mainly affecting
DE the upper extremities, in contrast to other distal motor
DE neuronopathies. These constitute a heterogeneous group of
DE neuromuscular diseases caused by selective degeneration of motor
DE neurons in the anterior horn of the spinal cord, without sensory
DE deficit in the posterior horn. The overall clinical picture consists
DE of a classical distal muscular atrophy syndrome in the legs without
DE clinical sensory loss. The disease starts with weakness and wasting of
DE distal muscles of the anterior tibial and peroneal compartments of the
DE legs. Later on, weakness and atrophy may expand to the proximal
DE muscles of the lower limbs and/or to the distal upper limbs.
SY dHMN5.
SY DHMN5A.
SY dHMN V.
SY DHMN VA.
SY Distal hereditary motor neuronopathy type VA.
SY Distal hereditary motor neuropathy type V.
SY Distal hereditary motor neuropathy type VA.
SY DSMAV.
SY DSMA-V.
SY DSMAVA.
SY HMN V.
SY HMN VA.
SY Spinal muscular atrophy distal type V.
SY Spinal muscular atrophy distal type VA.
SY Spinal muscular atrophy distal with upper limb predominance.
DR MIM; 600794; phenotype.
DR MedGen; C1833308.
DR MeSH; D009134.
KW KW-0523:Neurodegeneration.
KW KW-0622:Neuropathy.
//
ID Neuronopathy, distal hereditary motor, 5B.
AC DI-03508
AR HMN5B.
DE A disorder characterized by distal muscular atrophy mainly affecting
DE the upper extremities, in contrast to other distal motor
DE neuronopathies. These constitute a heterogeneous group of
DE neuromuscular diseases caused by selective degeneration of motor
DE neurons in the anterior horn of the spinal cord, without sensory
DE deficit in the posterior horn. The overall clinical picture consists
DE of a classical distal muscular atrophy syndrome in the legs without
DE clinical sensory loss. The disease starts with weakness and wasting of
DE distal muscles of the anterior tibial and peroneal compartments of the
DE legs. Later on, weakness and atrophy may expand to the proximal
DE muscles of the lower limbs and/or to the distal upper limbs. HMN5B is
DE characterized by onset in the first or second decade of distal muscle
DE weakness and atrophy, primarily affecting the intrinsic hand muscles,
DE but also affecting the lower legs, resulting in abnormal gait and pes
DE cavus.
SY DHMN5B.
SY DHMN VB.
SY Distal hereditary motor neuropathy type VB.
SY DSMAVB.
SY HMN VB.
SY Spinal muscular atrophy distal type VB.
DR MIM; 614751; phenotype.
DR MedGen; C3553656.
DR MedGen; CN130637.
DR MeSH; D009134.
KW KW-0523:Neurodegeneration.
KW KW-0622:Neuropathy.
//
ID Neuronopathy, distal hereditary motor, 5C.
AC DI-05984
AR HMN5C.
DE A form of distal hereditary motor neuronopathy, a heterogeneous group
DE of neuromuscular diseases caused by selective degeneration of motor
DE neurons in the anterior horn of the spinal cord, without sensory
DE deficit in the posterior horn. HMN5C is characterized by distal
DE muscular atrophy primarily affecting the upper limbs. Lower limb
DE involvement may occur at the same time or later. Clinical features are
DE highly variable even within families, and include poor fine hand motor
DE skills, difficulty walking, foot deformities, spasticity and
DE hyperreflexia. Some HMN5C patients show axonal peripheral neuropathy
DE and distal sensory impairment. HMN5C inheritance is autosomal dominant
DE with incomplete penetrance.
SY DHMN5C.
SY Distal hereditary motor neuronopathy type VC.
SY Distal spinal muscular atrophy type 5C.
SY DSMA5C.
SY Neuronopathy, distal hereditary motor, type VC.
SY Spinal muscular atrophy, distal, type 5C.
DR MIM; 619112; phenotype.
DR MedGen; CN293590.
DR MeSH; D009134.
KW KW-0523:Neurodegeneration.
KW KW-0622:Neuropathy.
//
ID Neuronopathy, distal hereditary motor, 6.
AC DI-00403
AR HMN6.
DE A neuromuscular disorder. Distal hereditary motor neuronopathies
DE constitute a heterogeneous group of neuromuscular disorders caused by
DE selective degeneration of motor neurons in the anterior horn of the
DE spinal cord, without sensory deficit in the posterior horn. The
DE overall clinical picture consists of a classical distal muscular
DE atrophy syndrome in the legs without clinical sensory loss. The
DE disease starts with weakness and wasting of distal muscles of the
DE anterior tibial and peroneal compartments of the legs. Later on,
DE weakness and atrophy may expand to the proximal muscles of the lower
DE limbs and/or to the distal upper limbs.
SY dHMN6.
SY dHMN VI.
SY Diaphragmatic spinal muscular atrophy.
SY Distal hereditary motor neuropathy type VI.
SY DSMA1.
SY HMN VI.
SY Severe infantile axonal neuronopathy with respiratory failure.
SY Severe infantile axonal neuropathy with respiratory failure.
SY SIANRF.
SY SMARD1.
SY Spinal muscular atrophy distal autosomal recessive 1.
SY Spinal muscular atrophy with respiratory distress 1.
DR MIM; 604320; phenotype.
DR MedGen; C1858517.
DR MeSH; D009134.
KW KW-0523:Neurodegeneration.
KW KW-0622:Neuropathy.
//
ID Neuronopathy, distal hereditary motor, 7A.
AC DI-03689
AR HMN7A.
DE A neuromuscular disorder. Distal hereditary motor neuronopathies
DE constitute a heterogeneous group of neuromuscular disorders caused by
DE selective degeneration of motor neurons in the anterior horn of the
DE spinal cord, without sensory deficit in the posterior horn. The
DE overall clinical picture consists of a classical distal muscular
DE atrophy syndrome in the legs without clinical sensory loss. The
DE disease starts with weakness and wasting of distal muscles of the
DE anterior tibial and peroneal compartments of the legs. Later on,
DE weakness and atrophy may expand to the proximal muscles of the lower
DE limbs and/or to the distal upper limbs. HMN7A is characterized by
DE onset in the second decade of progressive distal muscle wasting and
DE weakness affecting the upper and lower limbs and resulting in walking
DE difficulties and hand grip. There is significant muscle atrophy of the
DE hands and lower limbs. The disorder is associated with vocal cord
DE paresis due to involvement of the tenth cranial nerve.
SY dHMN7A.
SY DHMNVP.
SY Distal hereditary motor neuronopathy type VIIA.
SY Distal hereditary motor neuropathy type VIIA.
SY Distal hereditary motor neuropathy with vocal cord paralysis.
SY Distal spinal muscular atrophy with vocal cord paralysis.
SY Harper-Young myopathy.
SY HMN VIIA.
DR MIM; 158580; phenotype.
DR MedGen; C1834703.
DR MeSH; D009134.
KW KW-0523:Neurodegeneration.
KW KW-0622:Neuropathy.
//
ID Neuronopathy, distal hereditary motor, 7B.
AC DI-00404
AR HMN7B.
DE A neuromuscular disorder. Distal hereditary motor neuronopathies
DE constitute a heterogeneous group of neuromuscular disorders caused by
DE selective degeneration of motor neurons in the anterior horn of the
DE spinal cord, without sensory deficit in the posterior horn. The
DE overall clinical picture consists of a classical distal muscular
DE atrophy syndrome in the legs without clinical sensory loss. The
DE disease starts with weakness and wasting of distal muscles of the
DE anterior tibial and peroneal compartments of the legs. Later on,
DE weakness and atrophy may expand to the proximal muscles of the lower
DE limbs and/or to the distal upper limbs.
SY dHMN7B.
SY Distal hereditary motor neuropathy type VIIB.
SY Distal hereditary motor neuropathy with vocal cord paralysis type VIIB.
SY HMN VIIB.
SY Lower motor neuron disease dynactin type.
SY PLMND.
SY Progressive lower motor neuron disease.
DR MIM; 607641; phenotype.
DR MedGen; C1843315.
DR MeSH; D009134.
KW KW-0523:Neurodegeneration.
KW KW-0622:Neuropathy.
//
ID Neuronopathy, distal hereditary motor, 8.
AC DI-02688
AR HMN8.
DE A clinically variable, neuromuscular disorder characterized by
DE congenital lower motor neuron disorder restricted to the lower part of
DE the body. Clinical manifestations include non-progressive muscular
DE atrophy, thigh muscle atrophy, weak thigh adductors, weak knee and
DE foot extensors, minimal jaw muscle and neck flexor weakness, flexion
DE contractures of knees and pes equinovarus. Tendon reflexes are normal.
SY DHMN8.
SY Distal spinal muscular atrophy, congenital non-progressive.
SY Neuropathy, distal hereditary motor, type VIII.
SY Spinal muscular atrophy congenital benign with contractures.
DR MIM; 600175; phenotype.
DR MedGen; C1838492.
DR MeSH; D009134.
KW KW-0523:Neurodegeneration.
KW KW-0622:Neuropathy.
//
ID Neuronopathy, distal hereditary motor, 9.
AC DI-05119
AR HMN9.
DE An autosomal dominant neurologic disorder characterized by juvenile
DE onset of slowly progressive distal muscle weakness and atrophy
DE affecting both the lower and upper limbs.
SY DHMN9.
SY Neuronopathy, distal hereditary motor, type IX.
SY Neuropathy, distal hereditary motor, type IX.
DR MIM; 617721; phenotype.
DR MedGen; CN547335.
DR MeSH; D009134.
KW KW-0523:Neurodegeneration.
KW KW-0622:Neuropathy.
//
ID Neuroocular syndrome.
AC DI-06229
AR NOC.
DE An autosomal dominant syndrome characterized by developmental delay,
DE impaired intellectual development, and variable eye abnormalities
DE including anophthalmia, microphthalmia, and coloboma. Other common
DE systemic features include congenital heart and kidney defects,
DE hypotonia, failure to thrive, and microcephaly.
DR MIM; 619539; phenotype.
DR MedGen; CN300501.
DR MeSH; D000013.
DR MeSH; D005124.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Neurooculocardiogenitourinary syndrome.
AC DI-05698
AR NOCGUS.
DE An autosomal dominant multisystem disorder characterized by
DE significant neurological impairment with structural brain defects and
DE seizures, poor feeding, poor postnatal growth, ocular anomalies,
DE dysmorphic facial features, and variable skeletal, cardiac and
DE genitourinary defects. Death in infancy may occur.
DR MIM; 618652; phenotype.
DR MedGen; CN262657.
DR MeSH; D000015.
//
ID Neuropathy, ataxia, and retinitis pigmentosa.
AC DI-02048
AR NARP.
DE A syndrome characterized by variable combination of developmental
DE delay, psychomotor retardation, hearing loss, optic atrophy and
DE retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic
DE muscle weakness, and sensory neuropathy.
SY NARP syndrome.
SY Neurogenic muscle weakness, ataxia, and retinitis pigmentosa.
DR MIM; 551500; phenotype.
DR MedGen; C1328349.
DR MedGen; C1838914.
DR MeSH; D012174.
DR MeSH; D028361.
KW KW-0622:Neuropathy.
KW KW-0682:Retinitis pigmentosa.
KW KW-1274:Primary mitochondrial disease.
//
ID Neuropathy, congenital hypomyelinating, 1, autosomal recessive.
AC DI-00358
AR CHN1.
DE A severe degenerating neuropathy that results from a congenital
DE impairment in myelin formation. It is clinically characterized by
DE early onset of hypotonia, areflexia, distal muscle weakness, and very
DE slow nerve conduction velocities (as low as 3m/s). Some patients
DE manifest nearly complete absence of spontaneous limb movements,
DE respiratory distress at birth, and complete absence of myelin shown by
DE electron microscopy of peripheral nerves.
SY Charcot-Marie-Tooth disease type 4E.
SY Charcot-Marie-Tooth neuropathy type 4E.
SY CMT4E.
SY Congenital amyelinating neuropathy.
SY Congenital hypomyelinating neuropathy autosomal recessive.
SY Neuropathy, congenital hypomyelinating or amyelinating.
SY Severe congenital hypomyelination.
DR MIM; 605253; phenotype.
DR MedGen; C0393818.
DR MedGen; C3551756.
DR MeSH; D002607.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Neuropathy, congenital hypomyelinating, 2.
AC DI-05376
AR CHN2.
DE A form of congenital hypomyelinating neuropathy, a neurologic disorder
DE characterized by early-onset hypotonia, areflexia, distal muscle
DE weakness, and very slow nerve conduction velocities (NCV) resulting
DE from improper myelination of axons. In its extreme form, it may
DE present with severe joint contractures or arthrogryposis multiplex
DE congenita and respiratory insufficiency. In less severe cases patients
DE may achieve walking. Patients lack both active myelin breakdown and
DE well-organized onion bulbs on sural nerve biopsies, have absence of
DE inflammation, and show hypomyelination of most or all fibers. CHN2
DE inheritance is autosomal dominant.
SY Hypomyelinating neuropathy, congenital, 2.
DR MIM; 618184; phenotype.
DR MedGen; CN257483.
DR MeSH; D015417.
KW KW-0622:Neuropathy.
//
ID Neuropathy, congenital hypomyelinating, 3.
AC DI-05377
AR CHN3.
DE A form of congenital hypomyelinating neuropathy, a neurologic disorder
DE characterized by early-onset hypotonia, areflexia, distal muscle
DE weakness, and very slow nerve conduction velocities (NCV) resulting
DE from improper myelination of axons. In its extreme form, it may
DE present with severe joint contractures or arthrogryposis multiplex
DE congenita and respiratory insufficiency. In less severe cases patients
DE may achieve walking. Patients lack both active myelin breakdown and
DE well-organized onion bulbs on sural nerve biopsies, have absence of
DE inflammation, and show hypomyelination of most or all fibers. CHN3 is
DE a severe autosomal recessive form characterized by onset of neurogenic
DE muscle impairment in utero. Affected individuals have profoundly
DE impaired psychomotor development and may die in infancy or early
DE childhood.
DR MIM; 618186; phenotype.
DR MedGen; CN257484.
DR MeSH; D015417.
KW KW-0622:Neuropathy.
//
ID Neuropathy, hereditary motor and sensory, 6A, with optic atrophy.
AC DI-00292
AR HMSN6A.
DE An autosomal dominant neurologic disorder characterized by optic
DE atrophy and peripheral sensorimotor neuropathy manifesting as axonal
DE Charcot-Marie-Tooth disease. Charcot-Marie-Tooth disease is a disorder
DE of the peripheral nervous system, characterized by progressive
DE weakness and atrophy, initially of the peroneal muscles and later of
DE the distal muscles of the arms. It is classified in two main groups on
DE the basis of electrophysiologic properties and histopathology: primary
DE peripheral demyelinating neuropathies and primary peripheral axonal
DE neuropathies. Peripheral axonal neuropathies are characterized by
DE signs of axonal regeneration in the absence of obvious myelin
DE alterations, and normal or slightly reduced nerve conduction
DE velocities.
SY Charcot-Marie-Tooth disease 6.
SY Charcot-Marie-Tooth disease 6A.
SY CMT6.
SY CMT6A.
SY Hereditary motor and sensory neuropathy type VI.
SY Hereditary motor and sensory neuropathy type VIA.
SY HMSN6.
SY HMSN VI.
SY HMSN VIA.
SY Peripheral neuropathy and optic atrophy.
DR MIM; 601152; phenotype.
DR MedGen; C0393807.
DR MeSH; D002607.
DR MeSH; D015418.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Neuropathy, hereditary motor and sensory, 6B, with optic atrophy.
AC DI-04538
AR HMSN6B.
DE An autosomal recessive neurologic disorder characterized by early-
DE onset optic atrophy, progressive visual loss, and peripheral
DE sensorimotor neuropathy manifesting as axonal Charcot-Marie-Tooth
DE disease, with variable age at onset and severity. Charcot-Marie-Tooth
DE disease is a disorder of the peripheral nervous system, characterized
DE by progressive weakness and atrophy, initially of the peroneal muscles
DE and later of the distal muscles of the arms. It is classified in two
DE main groups on the basis of electrophysiologic properties and
DE histopathology: primary peripheral demyelinating neuropathies and
DE primary peripheral axonal neuropathies. Peripheral axonal neuropathies
DE are characterized by signs of axonal regeneration in the absence of
DE obvious myelin alterations, and normal or slightly reduced nerve
DE conduction velocities.
SY Charcot-Marie-Tooth disease 6B.
SY CMT6B.
SY Hereditary motor and sensory neuropathy type VIB.
SY HMSN VIB.
SY Neuropathy, hereditary motor and sensory, type VIB.
DR MIM; 616505; phenotype.
DR MedGen; CN232097.
DR MeSH; D002607.
DR MeSH; D015418.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Neuropathy, hereditary motor and sensory, 6C, with optic atrophy.
AC DI-05619
AR HMSN6C.
DE An autosomal recessive neurologic disorder characterized by childhood
DE onset of axonal, sensorimotor polyneuropathy affecting mainly the
DE lower limbs, and adult-onset optic atrophy. Clinical features include
DE progressive distal muscle weakness and atrophy, significant standing
DE and walking difficulties, areflexia, neurogenic pain and progressive
DE visual impairment.
SY Charcot-Marie-Tooth disease 6C.
SY CMT6C.
SY Hereditary motor and sensory neuropathy type VIC.
SY HMSN VIC.
SY Neuropathy, hereditary motor and sensory, type VIC.
SY Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy.
DR MIM; 618511; phenotype.
DR MedGen; CN260727.
DR MeSH; D002607.
DR MeSH; D015418.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Neuropathy, hereditary motor and sensory, Okinawa type.
AC DI-03525
AR HMSNO.
DE A neurodegenerative disorder characterized by young adult onset of
DE proximal muscle weakness and atrophy, muscle cramps, and
DE fasciculations, with later onset of distal sensory impairment. The
DE disorder is slowly progressive and clinically resembles amyotrophic
DE lateral sclerosis.
SY Hereditary motor and sensory neuropathy, proximal type.
SY Hereditary motor and sensory neuropathy Okinawa.
SY HMSNP.
DR MIM; 604484; phenotype.
DR MedGen; C1858338.
DR MeSH; D015417.
KW KW-0523:Neurodegeneration.
KW KW-0622:Neuropathy.
//
ID Neuropathy, hereditary motor and sensory, Russe type.
AC DI-03795
AR HMSNR.
DE An autosomal recessive progressive complex peripheral neuropathy
DE characterized by onset in the first decade of distal lower limb
DE weakness and muscle atrophy resulting in walking difficulties. Distal
DE impairment of the upper limbs usually occurs later, as does proximal
DE lower limb weakness. There is distal sensory impairment, with pes
DE cavus and areflexia. Laboratory studies suggest that it is a
DE myelinopathy resulting in reduced nerve conduction velocities in the
DE demyelinating range as well as a length-dependent axonopathy.
SY Charcot-Marie-Tooth disease autosomal recessive type 4G.
SY Charcot-Marie-Tooth disease type 4G.
SY Charcot-Marie-Tooth neuropathy type 4G.
SY CMT4G.
DR MIM; 605285; phenotype.
DR MedGen; C1854449.
DR MeSH; D015417.
KW KW-0144:Charcot-Marie-Tooth disease.
KW KW-0523:Neurodegeneration.
//
ID Neuropathy, hereditary motor, with myopathic features.
AC DI-06035
AR HMNMYO.
DE An autosomal recessive, neuromyopathic disorder that manifests in
DE childhood or adulthood with proximal and distal muscle weakness
DE predominantly of the lower limbs. Affected individuals have difficulty
DE climbing stairs and problems standing on the heels. Most patients have
DE foot deformities, and some may have leg muscle atrophy. Muscle biopsy
DE and electrophysiologic studies are consistent with both a myopathic
DE process and an axonal motor neuropathy.
DR MIM; 619216; phenotype.
DR MedGen; CN295795.
DR MeSH; D009468.
KW KW-0622:Neuropathy.
//
ID Neuropathy, hereditary sensory and autonomic, 1A.
AC DI-00547
AR HSAN1A.
DE A form of hereditary sensory and autonomic neuropathy, a genetically
DE and clinically heterogeneous group of disorders characterized by
DE degeneration of dorsal root and autonomic ganglion cells, and by
DE prominent sensory abnormalities with a variable degree of motor and
DE autonomic dysfunction. The neurological phenotype is often complicated
DE by severe infections, osteomyelitis, and amputations. HSAN1A is an
DE autosomal dominant axonal form with onset in the second or third
DE decades. Initial symptoms are loss of pain, touch, heat, and cold
DE sensation over the feet, followed by distal muscle wasting and
DE weakness. Loss of pain sensation leads to chronic skin ulcers and
DE distal amputations.
SY Hereditary sensory neuropathy type IA.
SY Hereditary sensory radicular neuropathy autosomal dominant type 1A.
SY HSAN1.
SY HSAN IA.
SY HSN1.
SY HSN IA.
DR MIM; 162400; phenotype.
DR MedGen; C0020071.
DR MedGen; C3149656.
DR MeSH; D009477.
KW KW-0523:Neurodegeneration.
KW KW-0622:Neuropathy.
//
ID Neuropathy, hereditary sensory and autonomic, 1C.
AC DI-02943
AR HSAN1C.
DE A form of hereditary sensory and autonomic neuropathy, a genetically
DE and clinically heterogeneous group of disorders characterized by
DE degeneration of dorsal root and autonomic ganglion cells, and by
DE prominent sensory abnormalities with a variable degree of motor and
DE autonomic dysfunction. The neurological phenotype is often complicated
DE by severe infections, osteomyelitis, and amputations. HSAN1C symptoms
DE include loss of touch and vibration in the feet, dysesthesia and
DE severe panmodal sensory loss in the upper and lower limbs, distal
DE lower limb sensory loss with ulceration and osteomyelitis, and distal
DE muscle weakness.
SY Hereditary sensory neuropathy type IC.
SY HSAN IC.
SY HSN1C.
SY HSN IC.
DR MIM; 613640; phenotype.
DR MedGen; C3150896.
DR MeSH; D009477.
KW KW-0523:Neurodegeneration.
KW KW-0622:Neuropathy.
//
ID Neuropathy, hereditary sensory and autonomic, 2A.
AC DI-00548
AR HSAN2A.
DE A form of hereditary sensory and autonomic neuropathy, a genetically
DE and clinically heterogeneous group of disorders characterized by
DE degeneration of dorsal root and autonomic ganglion cells, and by
DE sensory and/or autonomic abnormalities. HSAN2A is an autosomal
DE recessive disorder characterized by impairment of pain, temperature
DE and touch sensation, onset of symptoms in infancy or early childhood,
DE occurrence of distal extremity pathologies (paronychia, whitlows,
DE ulcers, and Charcot joints), frequent amputations, sensory loss that
DE affects all modalities of sensation (lower and upper limbs and perhaps
DE the trunk as well), absence or diminution of tendon reflexes (usually
DE in all limbs), minimal autonomic dysfunction, absence of sensory nerve
DE action potentials, and virtual absence of myelinated fibers with
DE decreased numbers of unmyelinated fibers in sural nerves.
SY Acroosteolysis Giaccai type.
SY Congenital sensory neuropathy.
SY Hereditary sensory and autonomic neuropathy type IIA.
SY Hereditary sensory neuropathy type IIA.
SY Hereditary sensory radicular neuropathy autosomal recessive.
SY HSAN IIA.
SY HSN2A.
SY HSN IIA.
SY Morvan disease.
SY Neurogenic acroosteolysis.
SY Progressive sensory neuropathy of children.
DR MIM; 201300; phenotype.
DR MedGen; C0020072.
DR MedGen; C0699739.
DR MedGen; C0751540.
DR MeSH; D009477.
KW KW-0523:Neurodegeneration.
KW KW-0622:Neuropathy.
//
ID Neuropathy, hereditary sensory and autonomic, 2B.
AC DI-02529
AR HSAN2B.
DE A form of hereditary sensory and autonomic neuropathy, a genetically
DE and clinically heterogeneous group of disorders characterized by
DE degeneration of dorsal root and autonomic ganglion cells, and by
DE sensory and/or autonomic abnormalities. HSAN2B is an autosomal
DE recessive disorder characterized by impairment of pain, temperature
DE and touch sensation. Onset occurs in the first or second decade, with
DE impaired nociception and progressive mutilating ulceration of the
DE hands and feet with osteomyelitis and acroosteolysis. Amputations of
DE the hands and feet are common. Autonomic dysfunction includes
DE hyperhidrosis, urinary incontinence, and slow pupillary light
DE response.
SY Hereditary sensory and autonomic neuropathy type IIB.
DR MIM; 613115; phenotype.
DR MedGen; C2751092.
DR MeSH; D009477.
KW KW-0523:Neurodegeneration.
KW KW-0622:Neuropathy.
//
ID Neuropathy, hereditary sensory and autonomic, 3.
AC DI-01566
AR HSAN3.
DE A form of hereditary sensory and autonomic neuropathy, a genetically
DE and clinically heterogeneous group of disorders characterized by
DE degeneration of dorsal root and autonomic ganglion cells, and by
DE sensory and/or autonomic abnormalities. HSAN3 patients manifest a
DE variety of symptoms such as alacrima, decreased taste, decreased
DE sensitivity to pain and temperature, vasomotor instability, hypoactive
DE or absent deep tendon reflexes, vomiting crises, and gastrointestinal
DE dysfunction.
SY Familial dysautonomia.
SY FD.
SY Hereditary sensory and autonomic neuropathy type III.
SY HSAN III.
SY HSN III.
SY Riley-Day syndrome.
DR MIM; 223900; phenotype.
DR MedGen; C0013364.
DR MeSH; D004402.
KW KW-0523:Neurodegeneration.
KW KW-0622:Neuropathy.
//
ID Neuropathy, hereditary sensory and autonomic, 5.
AC DI-00549
AR HSAN5.
DE A form of hereditary sensory and autonomic neuropathy, a genetically
DE and clinically heterogeneous group of disorders characterized by
DE degeneration of dorsal root and autonomic ganglion cells, and by
DE sensory and/or autonomic abnormalities. HSAN5 patients manifest loss
DE of pain perception and impaired temperature sensitivity, ulcers, and
DE in some cases self-mutilation. The autonomic involvement is variable.
SY Congenital insensitivity to pain.
SY Hereditary sensory neuropathy type V.
SY HSAN V.
SY HSN V.
DR MIM; 608654; phenotype.
DR MedGen; C0020075.
DR MeSH; D000699.
DR MeSH; D009477.
KW KW-0523:Neurodegeneration.
KW KW-0622:Neuropathy.
//
ID Neuropathy, hereditary sensory and autonomic, 6.
AC DI-03461
AR HSAN6.
DE A form of hereditary sensory and autonomic neuropathy, a genetically
DE and clinically heterogeneous group of disorders characterized by
DE degeneration of dorsal root and autonomic ganglion cells, and by
DE sensory and/or autonomic abnormalities. HSAN6 is a severe autosomal
DE recessive disorder characterized by neonatal hypotonia, respiratory
DE and feeding difficulties, lack of psychomotor development, and
DE autonomic abnormalities including labile cardiovascular function, lack
DE of corneal reflexes leading to corneal scarring, areflexia, and absent
DE axonal flare response after intradermal histamine injection.
SY Hereditary sensory neuropathy type VI.
SY HSAN VI.
SY HSN VI.
DR MIM; 614653; phenotype.
DR MedGen; C3539003.
DR MedGen; CN125065.
DR MeSH; D009477.
KW KW-0523:Neurodegeneration.
KW KW-0622:Neuropathy.
//
ID Neuropathy, hereditary sensory and autonomic, 7.
AC DI-03988
AR HSAN7.
DE A form of hereditary sensory and autonomic neuropathy, a genetically
DE and clinically heterogeneous group of disorders characterized by
DE degeneration of dorsal root and autonomic ganglion cells, and by
DE sensory and/or autonomic abnormalities. HSAN7 is characterized by
DE congenital inability to experience pain resulting in self-mutilations,
DE slow-healing wounds, and multiple painless fractures. mild muscle
DE weakness, delayed motor development, slightly reduced motor and
DE sensory nerve conduction velocities, hyperhidrosis and
DE gastrointestinal dysfunction.
SY Congenital insensitivity to pain with gastrointestinal dysfunction and hyperhidrosis.
SY Hereditary sensory and autonomic neuropathy type VII.
SY HSAN VII.
DR MIM; 615548; phenotype.
DR MedGen; C3809882.
DR MedGen; CN182245.
DR MeSH; D009477.
KW KW-0523:Neurodegeneration.
KW KW-0622:Neuropathy.
//
ID Neuropathy, hereditary sensory and autonomic, 8.
AC DI-04493
AR HSAN8.
DE A form of hereditary sensory and autonomic neuropathy, a genetically
DE and clinically heterogeneous group of disorders characterized by
DE degeneration of dorsal root and autonomic ganglion cells, and by
DE sensory and/or autonomic abnormalities. HSAN8 patients manifest
DE congenital insensitivity to pain resulting in ulceration to the
DE fingers, tongue, lips, and other distal appendages. Some patients may
DE also have decreased sweating and tear production.
SY Hereditary sensory and autonomic neuropathy type VIII.
SY HSAN VIII.
DR MIM; 616488; phenotype.
DR MedGen; CN231731.
DR MeSH; D009477.
KW KW-0523:Neurodegeneration.
KW KW-0622:Neuropathy.
//
ID Neuropathy, hereditary sensory and autonomic, 9, with developmental delay.
AC DI-03681
AR HSAN9.
DE A form of hereditary sensory and autonomic neuropathy, a genetically
DE and clinically heterogeneous group of disorders characterized by
DE degeneration of dorsal root and autonomic ganglion cells, and by
DE sensory and/or autonomic abnormalities. HSAN9 is characterized by
DE global developmental delay and intellectual disability, axial and
DE appendicular hypotonia, dysarthria, and an abnormal gait that is often
DE described as ataxic. Other features may include peripheral neuropathy,
DE hyporeflexia, and autonomic dysfunction. Affected individuals also
DE have dysmorphic features, thin corpus callosum on brain imaging, and
DE episodes of central apnea, which may be fatal.
SY Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay.
SY Spastic paraplegia 49, autosomal recessive.
SY SPG49.
DR MIM; 615031; phenotype.
DR MedGen; C3542549.
DR MedGen; CN164591.
DR MeSH; D015419.
KW KW-0622:Neuropathy.
//
ID Neuropathy, hereditary sensory, 1D.
AC DI-03056
AR HSN1D.
DE A disease characterized by adult-onset distal axonal sensory
DE neuropathy leading to mutilating ulcerations as well as hyporeflexia.
DE Some patients may show features suggesting upper neuron involvement.
SY Hereditary sensory neuropathy type ID.
DR MIM; 613708; phenotype.
DR MedGen; C3150972.
DR MeSH; D009477.
KW KW-0622:Neuropathy.
//
ID Neuropathy, hereditary sensory, 1E.
AC DI-03189
AR HSN1E.
DE A neurodegenerative disorder characterized by adult onset of
DE progressive peripheral sensory loss associated with progressive
DE hearing impairment and early-onset dementia.
SY Hereditary sensory neuropathy type IE.
SY HSN IE.
SY Neuropathy hereditary sensory with hearing loss and dementia.
DR MIM; 614116; phenotype.
DR MedGen; C3279885.
DR MeSH; D009477.
KW KW-0622:Neuropathy.
//
ID Neuropathy, hereditary sensory, 1F.
AC DI-04037
AR HSN1F.
DE An autosomal dominant sensory neuropathy affecting the lower limbs.
DE Distal sensory impairment becomes apparent during the second or third
DE decade of life, resulting in painless ulceration of the feet with poor
DE healing, which can progress to osteomyelitis, bone destruction, and
DE amputation. There is no autonomic involvement, spasticity, or
DE cognitive impairment.
SY Hereditary sensory neuropathy type IF.
SY HSN IF.
DR MIM; 615632; phenotype.
DR MedGen; C3810194.
DR MedGen; CN184543.
DR MeSH; D009477.
KW KW-0622:Neuropathy.
//
ID Neuropathy, hereditary sensory, 2C.
AC DI-03263
AR HSN2C.
DE A neurodegenerative disorder characterized by onset in the first
DE decade of progressive distal sensory loss leading to ulceration and
DE amputation of the fingers and toes. Affected individuals also develop
DE distal muscle weakness, primarily affecting the lower limbs.
SY Hereditary sensory neuropathy type IIC.
SY HSN IICE.
DR MIM; 614213; phenotype.
DR MedGen; C3280168.
DR MeSH; D009477.
KW KW-0622:Neuropathy.
//
ID Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive.
AC DI-01256
AR HSNSP.
DE A disease characterized by spastic paraplegia and progressive distal
DE sensory neuropathy leading to mutilating ulcerations of the upper and
DE lower limbs.
DR MIM; 256840; phenotype.
DR MedGen; C1850395.
DR MeSH; D015419.
KW KW-0622:Neuropathy.
//
ID Neutral lipid storage disease with myopathy.
AC DI-02050
AR NLSDM.
DE Neutral lipid storage disorder (NLSD) with myopathy but without
DE ichthyosis. NLSDs are characterized by the presence of triglyceride-
DE containing cytoplasmic droplets in leukocytes and in other tissues,
DE including bone marrow, skin, and muscle. Individuals with NLSDM did
DE not show obesity, in spite of a defect in triglyceride degradation in
DE fibroblasts and in marked triglyceride storage in liver, muscles, and
DE other visceral cells.
SY Neutral lipid storage disease without ichthyosis.
DR MIM; 610717; phenotype.
DR MedGen; C1853136.
//
ID Neutropenia, severe congenital 1, autosomal dominant.
AC DI-01225
AR SCN1.
DE A disorder of hematopoiesis characterized by maturation arrest of
DE granulopoiesis at the level of promyelocytes with peripheral blood
DE absolute neutrophil counts below 0.5 x 10(9)/l and early onset of
DE severe bacterial infections.
DR MIM; 202700; phenotype.
DR MedGen; C1859966.
DR MeSH; D009503.
//
ID Neutropenia, severe congenital 2, autosomal dominant.
AC DI-01226
AR SCN2.
DE A disorder of hematopoiesis characterized by maturation arrest of
DE granulopoiesis at the level of promyelocytes with peripheral blood
DE absolute neutrophil counts below 0.5 x 10(9)/l and early onset of
DE severe bacterial infections.
DR MIM; 613107; phenotype.
DR MedGen; C2751288.
DR MeSH; D009503.
//
ID Neutropenia, severe congenital 3, autosomal recessive.
AC DI-01257
AR SCN3.
DE A disorder of hematopoiesis characterized by maturation arrest of
DE granulopoiesis at the level of promyelocytes with peripheral blood
DE absolute neutrophil counts below 0.5 x 10(9)/l and early onset of
DE severe bacterial infections. Some patients affected by severe
DE congenital neutropenia type 3 have neurological manifestations such as
DE psychomotor retardation and seizures.
SY Agranulocytosis infantile.
SY Kostmann disease.
DR MIM; 610738; phenotype.
DR MedGen; C1853118.
DR MeSH; D009503.
//
ID Neutropenia, severe congenital 4, autosomal recessive.
AC DI-01258
AR SCN4.
DE A disorder of hematopoiesis characterized by maturation arrest of
DE granulopoiesis at the level of promyelocytes with peripheral blood
DE absolute neutrophil counts below 0.5 x 10(9)/l and early onset of
DE severe bacterial infections.
DR MIM; 612541; phenotype.
DR MedGen; C2675526.
DR MeSH; D009503.
//
ID Neutropenia, severe congenital 5, autosomal recessive.
AC DI-03813
AR SCN5.
DE An autosomal recessive primary immunodeficiency disorder characterized
DE primarily by neutropenia and neutrophil dysfunction, a lack of
DE response to G-CSF, life-threatening infections, bone marrow fibrosis,
DE and renal extramedullary hematopoiesis.
DR MIM; 615285; phenotype.
DR MedGen; C3809031.
DR MedGen; CN177969.
DR MeSH; D007153.
DR MeSH; D009503.
//
ID Neutropenia, severe congenital 6, autosomal recessive.
AC DI-04232
AR SCN6.
DE A disorder of hematopoiesis characterized by maturation arrest of
DE granulopoiesis at the level of promyelocytes with peripheral blood
DE absolute neutrophil counts below 0.5 x 10(9)/l and early onset of
DE severe bacterial infections.
DR MIM; 616022; phenotype.
DR MedGen; CN219643.
DR MeSH; D009503.
//
ID Neutropenia, severe congenital 7, autosomal recessive.
AC DI-04754
AR SCN7.
DE A form of severe congenital neutropenia, a disorder of hematopoiesis
DE characterized by maturation arrest of granulopoiesis at the level of
DE promyelocytes with peripheral blood absolute neutrophil counts below
DE 0.5 x 10(9)/l and early onset of severe bacterial infections.
DR MIM; 617014; phenotype.
DR MedGen; CN237114.
DR MeSH; D009503.
//
ID Neutropenia, severe congenital 8, autosomal dominant.
AC DI-05750
AR SCN8.
DE A form of severe congenital neutropenia, a disorder of hematopoiesis
DE characterized by maturation arrest of granulopoiesis at the level of
DE promyelocytes with peripheral blood absolute neutrophil counts below
DE 0.5 x 10(9)/l and early onset of severe bacterial infections.
DR MIM; 618752; phenotype.
DR MedGen; CN263232.
DR MeSH; D009503.
//
ID Neutropenia, severe congenital, X-linked.
AC DI-02457
AR XLN.
DE A disorder of hematopoiesis characterized by maturation arrest of
DE granulopoiesis at the level of promyelocytes with peripheral blood
DE absolute neutrophil counts below 0.5 x 10(9)/l and early onset of
DE severe bacterial infections.
DR MIM; 300299; phenotype.
DR MedGen; C1845987.
DR MeSH; D009503.
//
ID Nevus comedonicus.
AC DI-04767
AR NC.
DE A rare type of epidermal nevus characterized by closely arranged,
DE dilated, plugged follicular ostia in a honeycomb pattern. The plugged
DE ostia contain lamellated keratinaceous material, and their appearance
DE resembles black dots. NC may be non-pyogenic with an acne-like
DE appearance or associated with the formation of cysts, papules,
DE pustules, and abscesses. Most commonly it affects the face and neck
DE area and, by exception, other anatomical regions, including genital
DE area, palms, and soles. NC lesions might present with various patterns
DE of distribution: unilateral, bilateral, linear, interrupted,
DE segmental, or blaschkoid.
DR MIM; 617025; phenotype.
DR MedGen; C0265987.
DR MeSH; D009506.
//
ID Nevus spilus.
AC DI-04451
AR NEVUSPI.
DE A congenital hyperpigmented patch, which progressively evolves,
DE developing dark macules and papules during childhood and adolescence.
DE Over time, nevus spilus may give rise to common lentigines,
DE melanocytic nevi, Spitz nevi, and melanoma.
SY Nevoid lentigo.
SY Speckled lentiginous nevus.
DR MIM; 137550; phenotype.
DR MedGen; C0346099.
DR MeSH; D007911.
DR MeSH; D009508.
//
ID Nicolaides-Baraitser syndrome.
AC DI-03463
AR NCBRS.
DE A rare disorder characterized by severe intellectual disability with
DE absent or limited speech, seizures, short stature, sparse hair,
DE typical facial characteristics, brachydactyly, prominent finger joints
DE and broad distal phalanges. Some of the features are progressive with
DE time.
SY NBS.
DR MIM; 601358; phenotype.
DR MedGen; C1303073.
DR MeSH; D007039.
DR MeSH; D008607.
DR MeSH; D019066.
KW KW-0991:Intellectual disability.
KW KW-1063:Hypotrichosis.
//
ID Niemann-Pick disease A.
AC DI-02053
AR NPDA.
DE An early-onset lysosomal storage disorder caused by failure to
DE hydrolyze sphingomyelin to ceramide. It results in the accumulation of
DE sphingomyelin and other metabolically related lipids in
DE reticuloendothelial and other cell types throughout the body, leading
DE to cell death. Niemann-Pick disease type A is a primarily
DE neurodegenerative disorder characterized by onset within the first
DE year of life, intellectual disability, digestive disorders, failure to
DE thrive, major hepatosplenomegaly, and severe neurologic symptoms. The
DE severe neurological disorders and pulmonary infections lead to an
DE early death, often around the age of four. Clinical features are
DE variable. A phenotypic continuum exists between type A (basic
DE neurovisceral) and type B (purely visceral) forms of Niemann-Pick
DE disease, and the intermediate types encompass a cluster of variants
DE combining clinical features of both types A and B.
SY Classical Niemann-Pick disease.
SY Niemann-Pick disease acute neuronopathic form.
SY Niemann-Pick disease acute neurovisceral form.
SY Niemann-Pick disease classical infantile form.
SY Niemann-Pick disease intermediate protracted neurovisceral.
SY Niemann-Pick disease neuronopathic type.
SY Niemann-Pick disease type I.
SY NPA.
SY Sphingomyelinase deficiency.
SY Sphingomyelin lipidosis.
DR MIM; 257200; phenotype.
DR MedGen; C0268242.
DR MedGen; C2675646.
DR MeSH; D052536.
KW KW-1054:Niemann-Pick disease.
//
ID Niemann-Pick disease B.
AC DI-02054
AR NPDB.
DE A late-onset lysosomal storage disorder caused by failure to hydrolyze
DE sphingomyelin to ceramide. It results in the accumulation of
DE sphingomyelin and other metabolically related lipids in
DE reticuloendothelial and other cell types throughout the body, leading
DE to cell death. Clinical signs involve only visceral organs. The most
DE constant sign is hepatosplenomegaly which can be associated with
DE pulmonary symptoms. Patients remain free of neurologic manifestations.
DE However, a phenotypic continuum exists between type A (basic
DE neurovisceral) and type B (purely visceral) forms of Niemann-Pick
DE disease, and the intermediate types encompass a cluster of variants
DE combining clinical features of both types A and B. In Niemann-Pick
DE disease type B, onset of the first symptoms occurs in early childhood
DE and patients can survive into adulthood.
SY Niemann-Pick disease adult non-neuronopathic form.
SY Niemann-Pick disease intermediate with visceral involvement and rapid progression.
SY Niemann-Pick disease type E.
SY Niemann-Pick disease type F.
SY Niemann-Pick disease type I.
SY Niemann-Pick disease visceral form.
SY NPB.
SY Sphingomyelinase deficiency.
SY Sphingomyelin lipidosis.
DR MIM; 607616; phenotype.
DR MedGen; C0268243.
DR MedGen; C0268248.
DR MedGen; C1843418.
DR MedGen; C2675644.
DR MeSH; D052537.
KW KW-1054:Niemann-Pick disease.
//
ID Niemann-Pick disease C1.
AC DI-02055
AR NPC1.
DE A lysosomal storage disorder that affects the viscera and the central
DE nervous system. It is due to defective intracellular processing and
DE transport of low-density lipoprotein derived cholesterol. It causes
DE accumulation of cholesterol in lysosomes, with delayed induction of
DE cholesterol homeostatic reactions. Niemann-Pick disease type C1 has a
DE highly variable clinical phenotype. Clinical features include variable
DE hepatosplenomegaly and severe progressive neurological dysfunction
DE such as ataxia, dystonia and dementia. The age of onset can vary from
DE infancy to late adulthood. An allelic variant of Niemann-Pick disease
DE type C1 is found in people with Nova Scotia ancestry. Patients with
DE the Nova Scotian clinical variant are less severely affected.
SY Neurovisceral storage disease with vertical supranuclear ophthalmoplegia.
SY Niemann-Pick disease chronic neuronopathic form.
SY Niemann-Pick disease Nova Scotian type.
SY Niemann-Pick disease subacute juvenile form.
SY Niemann-Pick disease type D.
SY Niemann-Pick disease type II.
SY Niemann-Pick disease with cholesterol esterification block.
SY Niemann-Pick disease without sphingomyelinase deficiency.
SY NPC.
DR MIM; 257220; phenotype.
DR MedGen; C0220756.
DR MedGen; C0268247.
DR MedGen; C1850363.
DR MedGen; C3179455.
DR MedGen; CN068592.
DR MedGen; CN068593.
DR MeSH; D052556.
KW KW-1054:Niemann-Pick disease.
//
ID Niemann-Pick disease C2.
AC DI-02056
AR NPC2.
DE A lysosomal storage disorder that affects the viscera and the central
DE nervous system. It is due to defective intracellular processing and
DE transport of low-density lipoprotein derived cholesterol. It causes
DE accumulation of cholesterol in lysosomes, with delayed induction of
DE cholesterol homeostatic reactions. Niemann-Pick disease type C2 has a
DE highly variable clinical phenotype. Clinical features include variable
DE hepatosplenomegaly and severe progressive neurological dysfunction
DE such as ataxia, dystonia and dementia. The age of onset can vary from
DE infancy to late adulthood.
DR MIM; 607625; phenotype.
DR MedGen; C1843366.
DR MeSH; D052556.
KW KW-1054:Niemann-Pick disease.
//
ID Night blindness, congenital stationary, 1A.
AC DI-00375
AR CSNB1A.
DE A non-progressive retinal disorder characterized by impaired night
DE vision. Congenital stationary night blindness type 1A is characterized
DE by impaired scotopic vision, myopia, hyperopia, nystagmus and reduced
DE visual acuity.
SY Complete X-linked CSNB.
SY Congenital stationary night blindness with myopia.
SY Hemeralopia-myopia.
SY Nyctalopia.
SY XLCSNB.
SY X-linked congenital stationary night blindness.
DR MIM; 310500; phenotype.
DR MedGen; C1839601.
DR MedGen; C3495587.
DR MeSH; D009755.
KW KW-1014:Congenital stationary night blindness.
//
ID Night blindness, congenital stationary, 1B.
AC DI-00377
AR CSNB1B.
DE A non-progressive retinal disorder characterized by impaired night
DE vision. Congenital stationary night blindness type 1B is an autosomal
DE recessive form associated with a negative electroretinogram waveform.
DE Patients are night blind from an early age, and when maximally dark-
DE adapted, they could perceive lights only with an intensity equal to or
DE slightly dimmer than that normally detected by the cone system. ERGs
DE in response to single brief flashes of light have clearly detectable
DE a-waves, which are derived from photoreceptors, and greatly reduced b-
DE waves, which are derived from the second-order inner retinal neurons.
DE ERGs in response to sawtooth flickering light indicate a markedly
DE reduced on response and a nearly normal OFF response. There is no
DE subjective delay in the perception of suddenly appearing white vs
DE black objects on a gray background.
SY Complete autosomal recessive CSNB.
SY Complete congenital stationary night blindness autosomal recessive.
DR MIM; 257270; phenotype.
DR MedGen; C1850362.
DR MeSH; D009755.
KW KW-1014:Congenital stationary night blindness.
//
ID Night blindness, congenital stationary, 1C.
AC DI-02588
AR CSNB1C.
DE A non-progressive retinal disorder characterized by impaired night
DE vision, often associated with nystagmus and myopia.
SY Complete autosomal recessive CSNB.
DR MIM; 613216; phenotype.
DR MedGen; C2750747.
DR MeSH; D009755.
KW KW-1014:Congenital stationary night blindness.
//
ID Night blindness, congenital stationary, 1D.
AC DI-03077
AR CSNB1D.
DE An autosomal recessive form of congenital stationary night blindness,
DE a non-progressive retinal disorder characterized by impaired night
DE vision. CSNB1D is characterized by a Riggs type of electroretinogram
DE (proportionally reduced a- and b-waves). Patients have visual acuity
DE within the normal range and no symptoms of myopia and/or nystagmus.
SY Complete autosomal recessive CSNB.
DR MIM; 613830; phenotype.
DR MedGen; C3151193.
DR MeSH; D009755.
KW KW-1014:Congenital stationary night blindness.
//
ID Night blindness, congenital stationary, 1E.
AC DI-03426
AR CSNB1E.
DE An autosomal recessive, non-progressive retinal disorder characterized
DE by impaired night vision, absence of the electroretinogram (ERG) b-
DE wave, and variable degrees of involvement of other visual functions.
DE Affected individuals have an ERG waveform that lacks the b-wave
DE because of failure to transmit the photoreceptor signal through the
DE retinal depolarizing bipolar cells.
SY Complete autosomal recessive CSNB.
DR MIM; 614565; phenotype.
DR MedGen; C3281215.
DR MeSH; D009755.
KW KW-1014:Congenital stationary night blindness.
//
ID Night blindness, congenital stationary, 1F.
AC DI-03687
AR CSNB1F.
DE An autosomal recessive form of congenital stationary night blindness,
DE a non-progressive retinal disorder characterized by impaired night
DE vision, often associated with nystagmus and myopia.
SY Complete autosomal recessive CSNB.
SY Complete congenital stationary night blindness 1F autosomal recessive.
DR MIM; 615058; phenotype.
DR MedGen; C3554399.
DR MedGen; CN165239.
DR MeSH; D009755.
KW KW-1014:Congenital stationary night blindness.
//
ID Night blindness, congenital stationary, 1G.
AC DI-04432
AR CSNB1G.
DE An autosomal recessive form of congenital stationary night blindness,
DE a non-progressive retinal disorder characterized by impaired night
DE vision or in dim light, with good vision only on bright days.
DR MIM; 616389; phenotype.
DR MedGen; CN230732.
DR MeSH; D009755.
KW KW-1014:Congenital stationary night blindness.
//
ID Night blindness, congenital stationary, 1H.
AC DI-04757
AR CSNB1H.
DE A form of congenital stationary night blindness, a non-progressive
DE retinal disorder characterized by impaired night vision or in dim
DE light, with good vision only on bright days. CSNB1H patients present
DE with childhood-onset night blindness and middle age-onset photophobia,
DE but have near-normal vision and do not exhibit nystagmus or high
DE myopia. CSNB1H inheritance is autosomal recessive.
DR MIM; 617024; phenotype.
DR MedGen; CN237389.
DR MeSH; D009755.
KW KW-1014:Congenital stationary night blindness.
//
ID Night blindness, congenital stationary, 1I.
AC DI-05643
AR CSNB1I.
DE A form of congenital stationary night blindness, a non-progressive
DE retinal disorder characterized by impaired night vision or in dim
DE light, with good vision only on bright days. CSNB1I patients present
DE with night blindness from infancy or early childhood. Visual acuity is
DE preserved, but some patients have color vision and/or visual field
DE defects. Progression to mild retinitis pigmentosa may occur. CSNB1I
DE inheritance is autosomal recessive.
DR MIM; 618555; phenotype.
DR MedGen; CN262223.
DR MeSH; D009755.
KW KW-1014:Congenital stationary night blindness.
//
ID Night blindness, congenital stationary, 2A.
AC DI-00376
AR CSNB2A.
DE A non-progressive retinal disorder characterized by impaired night
DE vision, often associated with nystagmus and myopia.
SY Congenital stationary night blindness type 2.
SY Incomplete X-linked CSNB.
DR MIM; 300071; phenotype.
DR MedGen; C1848172.
DR MeSH; D009755.
KW KW-1014:Congenital stationary night blindness.
//
ID Night blindness, congenital stationary, autosomal dominant 1.
AC DI-00371
AR CSNBAD1.
DE A non-progressive retinal disorder characterized by impaired night
DE vision, often associated with nystagmus and myopia.
SY Rhodopsin-related congenital stationary night blindness.
DR MIM; 610445; phenotype.
DR MedGen; C1864869.
DR MeSH; D009755.
KW KW-1014:Congenital stationary night blindness.
//
ID Night blindness, congenital stationary, autosomal dominant 2.
AC DI-00372
AR CSNBAD2.
DE A non-progressive retinal disorder characterized by impaired night
DE vision, often associated with nystagmus and myopia.
SY Congenital stationary night blindness Rambusch type.
SY Hemeralopia.
SY Hemeralopia congenital essential.
DR MIM; 163500; phenotype.
DR MedGen; C1876182.
DR MeSH; D009755.
KW KW-1014:Congenital stationary night blindness.
//
ID Night blindness, congenital stationary, autosomal dominant 3.
AC DI-00373
AR CSNBAD3.
DE A non-progressive retinal disorder characterized by impaired night
DE vision, often associated with nystagmus and myopia.
SY Congenital stationary night blindness Nougaret type.
SY Hemeralopia congenital essential.
DR MIM; 610444; phenotype.
DR MedGen; C1864870.
DR MeSH; D009755.
KW KW-1014:Congenital stationary night blindness.
//
ID Night blindness, congenital stationary, Oguchi type 1.
AC DI-00374
AR CSNBO1.
DE A non-progressive retinal disorder characterized by impaired night
DE vision, often associated with nystagmus and myopia. Congenital
DE stationary night blindness Oguchi type is an autosomal recessive form
DE associated with fundus discoloration and abnormally slow dark
DE adaptation.
SY Oguchi disease 1.
SY Oguchi disease-1.
DR MIM; 258100; phenotype.
DR MedGen; C1306122.
DR MeSH; D009755.
KW KW-1014:Congenital stationary night blindness.
//
ID Night blindness, congenital stationary, Oguchi type 2.
AC DI-02770
AR CSNBO2.
DE A non-progressive retinal disorder characterized by impaired night
DE vision, often associated with nystagmus and myopia. Congenital
DE stationary night blindness Oguchi type is associated with fundus
DE discoloration and abnormally slow dark adaptation.
SY Oguchi disease 2.
SY Oguchi disease-2.
DR MIM; 613411; phenotype.
DR MedGen; C3150678.
DR MeSH; D009755.
KW KW-1014:Congenital stationary night blindness.
//
ID Nijmegen breakage syndrome.
AC DI-02058
AR NBS.
DE A disorder characterized by chromosomal instability, radiation
DE sensitivity, microcephaly, growth retardation, immunodeficiency and
DE predisposition to cancer, particularly to lymphoid malignancies.
DR MIM; 251260; phenotype.
DR MedGen; C0398791.
DR MedGen; C1855057.
DR MedGen; C2930831.
DR MeSH; D049932.
//
ID Nijmegen breakage syndrome-like disorder.
AC DI-02806
AR NBSLD.
DE A disorder similar to Nijmegen breakage syndrome and characterized by
DE chromosomal instability, radiation sensitivity, microcephaly, growth
DE retardation, short stature and bird-like face. Immunodeficiency is
DE absent.
SY Microcephaly and spontaneous chromosome instability without immunodeficiency.
SY NBS-like disorder.
SY RAD50 deficiency.
DR MIM; 613078; phenotype.
DR MedGen; C2751318.
DR MeSH; D049914.
//
ID Nivelon-Nivelon-Mabille syndrome.
AC DI-05999
AR NNMS.
DE An autosomal recessive syndrome characterized by progressive
DE microcephaly, cerebellar vermis hypoplasia, and skeletal dysplasia.
DE Additional variable features include early infantile-onset seizures,
DE intrauterine and postnatal growth retardation, generalized
DE chondrodysplasia, and micromelia. 46,XY gonadal dysgenesis may be
DE present.
SY Chondrodysplasia-pseudohermaphroditism syndrome.
DR MIM; 600092; phenotype.
DR MedGen; C1838654.
DR MeSH; D010009.
DR MeSH; D058490.
KW KW-0242:Dwarfism.
//
ID Nizon-Isidor syndrome.
AC DI-05831
AR NIZIDS.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE intellectual disability, global developmental delay, speech
DE impairment, and behavioral abnormalities including autism spectrum
DE disorder and aggressive behavior. Other features include a thin corpus
DE callosum, and mild facial dysmorphism. Disease onset is in infancy or
DE early childhood.
DR MIM; 618872; phenotype.
DR MedGen; CN280885.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
KW KW-1268:Autism spectrum disorder.
//
ID Non-alcoholic fatty liver disease 1.
AC DI-02071
AR NAFLD1.
DE A condition characterized by accumulation of triglycerides in the
DE liver. It is associated with adverse metabolic consequences, including
DE insulin resistance and dyslipidemia. In a subset of individuals,
DE hepatic steatosis promotes an inflammatory response in the liver,
DE referred to as steatohepatitis, which can progress to cirrhosis and
DE liver cancer. NAFLD is the most common form of liver disease in
DE Western countries.
SY Hepatic steatosis.
DR MIM; 613282; phenotype.
DR MedGen; C2750440.
DR MedGen; C2750441.
DR MeSH; D005234.
//
ID Non-arteritic anterior ischemic optic neuropathy.
AC DI-02713
AR NAION.
DE An ocular disease due to ischemic injury to the optic nerve. It
DE usually affects the optic disk and leads to visual loss and optic disk
DE swelling of a pallid nature. Visual loss is usually sudden, or over a
DE few days at most and is usually permanent, with some recovery possibly
DE occurring within the first weeks or months. Patients with small disks
DE having smaller or non-existent cups have an anatomical predisposition
DE for non-arteritic anterior ischemic optic neuropathy. As an ischemic
DE episode evolves, the swelling compromises circulation, with a spiral
DE of ischemia resulting in further neuronal damage.
SY AION.
SY Anterior ischemic optic neuropathy.
DR MIM; 258660; phenotype.
DR MedGen; C1847711.
DR MeSH; D018917.
//
ID Non-ketotic hyperglycinemia.
AC DI-02061
AR NKH.
DE Autosomal recessive disease characterized by accumulation of a large
DE amount of glycine in body fluid and by severe neurological symptoms.
SY GCE.
SY Glycine encephalopathy.
DR MIM; 605899; phenotype.
DR MedGen; C0268560.
DR MedGen; C0751748.
//
ID Non-phenylketonuria hyperphenylalaninemia.
AC DI-02063
AR Non-PKU HPA.
DE Mild form of phenylalanine hydroxylase deficiency characterized by
DE phenylalanine levels persistently below 600 mumol, which allows normal
DE intellectual and behavioral development without treatment. Non-PKU HPA
DE is usually caused by the combined effect of a mild
DE hyperphenylalaninemia mutation and a severe one.
DR MIM; 261600; phenotype.
DR MedGen; C2678416.
//
ID Non-syndromic orofacial cleft 10.
AC DI-02972
AR OFC10.
DE A birth defect consisting of cleft lips with or without cleft palate.
DE Cleft lips are associated with cleft palate in two-third of cases. A
DE cleft lip can occur on one or both sides and range in severity from a
DE simple notch in the upper lip to a complete opening in the lip
DE extending into the floor of the nostril and involving the upper gum.
SY Non-syndromic cleft lip/palate 10.
SY Non-syndromic cleft lip with or without cleft palate 10.
SY Orofacial cleft 10.
DR MIM; 613705; phenotype.
DR MedGen; C1866070.
DR MeSH; D002971.
//
ID Non-syndromic orofacial cleft 11.
AC DI-00830
AR OFC11.
DE A birth defect consisting of cleft lips with or without cleft palate.
DE Cleft lips are associated with cleft palate in two-third of cases. A
DE cleft lip can occur on one or both sides and range in severity from a
DE simple notch in the upper lip to a complete opening in the lip
DE extending into the floor of the nostril and involving the upper gum.
SY CHCL.
SY Cleft lip congenital healed.
SY Congenital healed cleft lip.
SY Non-syndromic cleft lip/palate 11.
SY Non-syndromic cleft lip with or without cleft palate 11.
SY Orofacial cleft 11.
DR MIM; 600625; phenotype.
DR MedGen; C1833563.
DR MedGen; C2677434.
DR MeSH; D002971.
//
ID Non-syndromic orofacial cleft 15.
AC DI-04616
AR OFC15.
DE A birth defect consisting of cleft lips with or without cleft palate.
DE Cleft lips are associated with cleft palate in two-third of cases. A
DE cleft lip can occur on one or both sides and range in severity from a
DE simple notch in the upper lip to a complete opening in the lip
DE extending into the floor of the nostril and involving the upper gum.
DE OFC15 inheritance is autosomal dominant.
DR MIM; 616788; phenotype.
DR MedGen; CN235104.
DR MeSH; D002971.
//
ID Non-syndromic orofacial cleft 5.
AC DI-00826
AR OFC5.
DE A birth defect consisting of cleft lips with or without cleft palate.
DE Cleft lips are associated with cleft palate in two-third of cases. A
DE cleft lip can occur on one or both sides and range in severity from a
DE simple notch in the upper lip to a complete opening in the lip
DE extending into the floor of the nostril and involving the upper gum.
SY Non-syndromic cleft lip/palate 5.
SY Non-syndromic cleft lip with or without cleft palate 5.
SY Orofacial cleft 5.
DR MIM; 608874; phenotype.
DR MedGen; C1837210.
DR MeSH; D002971.
//
ID Non-syndromic orofacial cleft 6.
AC DI-00827
AR OFC6.
DE A birth defect consisting of cleft lips with or without cleft palate.
DE Cleft lips are associated with cleft palate in two-third of cases. A
DE cleft lip can occur on one or both sides and range in severity from a
DE simple notch in the upper lip to a complete opening in the lip
DE extending into the floor of the nostril and involving the upper gum.
SY Non-syndromic cleft lip/palate 6.
SY Non-syndromic cleft lip with or without cleft palate 6.
SY Orofacial cleft 6.
DR MIM; 608864; phenotype.
DR MedGen; C1837213.
DR MeSH; D002971.
//
ID Non-syndromic orofacial cleft 7.
AC DI-00828
AR OFC7.
DE A birth defect consisting of cleft lips with or without cleft palate.
DE Cleft lips are associated with cleft palate in two-third of cases. A
DE cleft lip can occur on one or both sides and range in severity from a
DE simple notch in the upper lip to a complete opening in the lip
DE extending into the floor of the nostril and involving the upper gum.
SY Non-syndromic cleft lip/palate 7.
SY Non-syndromic cleft lip with or without cleft palate 7.
SY Orofacial cleft 7.
DR MIM; 225060; phenotype.
DR MedGen; C1833538.
DR MedGen; C1857043.
DR MeSH; D002971.
//
ID Nonaka myopathy.
AC DI-02070
AR NM.
DE Autosomal recessive muscular disorder, allelic to inclusion body
DE myopathy 2. It is characterized by weakness of the anterior
DE compartment of the lower limbs with onset in early adulthood, and
DE sparing of the quadriceps muscles. As the inclusion body myopathy, NM
DE is histologically characterized by the presence of numerous rimmed
DE vacuoles without inflammatory changes in muscle specimens.
SY GNE myopathy.
SY HIBM.
SY IBM2.
SY Inclusion body myopathy, hereditary, autosomal recessive.
SY Inclusion body myopathy, quadriceps-sparing.
SY Inclusion body myopathy 2, autosomal recessive.
SY Myopathy, distal, with or without rimmed vacuoles.
SY Myopathy, distal, with rimmed vacuoles.
SY Nonaka distal myopathy.
SY QSM.
DR MIM; 605820; phenotype.
DR MedGen; C1853926.
//
ID Noonan syndrome 1.
AC DI-02072
AR NS1.
DE A form of Noonan syndrome, a disease characterized by short stature,
DE facial dysmorphic features such as hypertelorism, a downward eyeslant
DE and low-set posteriorly rotated ears, and a high incidence of
DE congenital heart defects and hypertrophic cardiomyopathy. Other
DE features can include a short neck with webbing or redundancy of skin,
DE deafness, motor delay, variable intellectual deficits, multiple
DE skeletal defects, cryptorchidism, and bleeding diathesis. Individuals
DE with Noonan syndrome are at risk of juvenile myelomonocytic leukemia,
DE a myeloproliferative disorder characterized by excessive production of
DE myelomonocytic cells. Some patients with NS1 develop multiple giant
DE cell lesions of the jaw or other bony or soft tissues, which are
DE classified as pigmented villonodular synovitis (PVNS) when occurring
DE in the jaw or joints.
SY Female pseudo-Turner syndrome.
SY Male Turner syndrome.
SY Noonan-like/multiple giant cell lesion syndrome.
SY Noonan syndrome.
SY Noonan syndrome-like disorder with multiple giant cell lesions.
SY Noonan syndrome with pigmented villonodular synovitis.
SY Pterygium colli syndrome.
SY Turner phenotype with normal karyotype.
DR MIM; 163950; phenotype.
DR MedGen; C0041409.
DR MedGen; C1527404.
DR MeSH; D009634.
//
ID Noonan syndrome 10.
AC DI-04517
AR NS10.
DE A form of Noonan syndrome, a disease characterized by short stature,
DE facial dysmorphic features such as hypertelorism, a downward eyeslant
DE and low-set posteriorly rotated ears, and a high incidence of
DE congenital heart defects and hypertrophic cardiomyopathy. Other
DE features can include a short neck with webbing or redundancy of skin,
DE deafness, motor delay, variable intellectual deficits, multiple
DE skeletal defects, cryptorchidism, and bleeding diathesis. Individuals
DE with Noonan syndrome are at risk of juvenile myelomonocytic leukemia,
DE a myeloproliferative disorder characterized by excessive production of
DE myelomonocytic cells. NS10 inheritance is autosomal dominant.
DR MIM; 616564; phenotype.
DR MedGen; CN232946.
DR MeSH; D009634.
//
ID Noonan syndrome 11.
AC DI-05614
AR NS11.
DE A form of Noonan syndrome, a disease characterized by short stature,
DE facial dysmorphic features such as hypertelorism, a downward eyeslant
DE and low-set posteriorly rotated ears, and a high incidence of
DE congenital heart defects and hypertrophic cardiomyopathy. Other
DE features can include a short neck with webbing or redundancy of skin,
DE deafness, motor delay, variable intellectual deficits, multiple
DE skeletal defects, cryptorchidism, and bleeding diathesis. Individuals
DE with Noonan syndrome are at risk of juvenile myelomonocytic leukemia,
DE a myeloproliferative disorder characterized by excessive production of
DE myelomonocytic cells. NS11 inheritance is autosomal dominant.
DR MIM; 618499; phenotype.
DR MedGen; CN260594.
DR MeSH; D009634.
//
ID Noonan syndrome 12.
AC DI-05677
AR NS12.
DE A form of Noonan syndrome, a disease characterized by short stature,
DE facial dysmorphic features such as hypertelorism, a downward eyeslant
DE and low-set posteriorly rotated ears, and a high incidence of
DE congenital heart defects and hypertrophic cardiomyopathy. Other
DE features can include a short neck with webbing or redundancy of skin,
DE deafness, motor delay, variable intellectual deficits, multiple
DE skeletal defects, cryptorchidism, and bleeding diathesis. Individuals
DE with Noonan syndrome are at risk of juvenile myelomonocytic leukemia,
DE a myeloproliferative disorder characterized by excessive production of
DE myelomonocytic cells. NS12 inheritance is autosomal dominant. There is
DE considerable variability in severity.
DR MIM; 618624; phenotype.
DR MedGen; CN262440.
DR MeSH; D009634.
//
ID Noonan syndrome 13.
AC DI-05961
AR NS13.
DE A form of Noonan syndrome, a disease characterized by short stature,
DE facial dysmorphic features such as hypertelorism, a downward eyeslant
DE and low-set posteriorly rotated ears, and a high incidence of
DE congenital heart defects and hypertrophic cardiomyopathy. Other
DE features can include a short neck with webbing or redundancy of skin,
DE deafness, motor delay, variable intellectual deficits, multiple
DE skeletal defects, cryptorchidism, and bleeding diathesis. Individuals
DE with Noonan syndrome are at risk of juvenile myelomonocytic leukemia,
DE a myeloproliferative disorder characterized by excessive production of
DE myelomonocytic cells. NS13 inheritance is autosomal dominant. There is
DE considerable variability in severity.
DR MIM; 619087; phenotype.
DR MedGen; CN293446.
DR MeSH; D009634.
//
ID Noonan syndrome 14.
AC DI-06344
AR NS14.
DE A form of Noonan syndrome, a disease characterized by short stature,
DE facial dysmorphic features such as hypertelorism, a downward eyeslant
DE and low-set posteriorly rotated ears, and a high incidence of
DE congenital heart defects and hypertrophic cardiomyopathy. Other
DE features can include a short neck with webbing or redundancy of skin,
DE deafness, motor delay, variable intellectual deficits, multiple
DE skeletal defects, cryptorchidism, and bleeding diathesis. NS14
DE inheritance is autosomal recessive.
DR MIM; 619745; phenotype.
DR MedGen; CN306436.
DR MeSH; D009634.
//
ID Noonan syndrome 2.
AC DI-05439
AR NS2.
DE A form of Noonan syndrome, a disease characterized by short stature,
DE facial dysmorphic features such as hypertelorism, a downward eyeslant
DE and low-set posteriorly rotated ears, and a high incidence of
DE congenital heart defects and hypertrophic cardiomyopathy. Other
DE features can include a short neck with webbing or redundancy of skin,
DE deafness, motor delay, variable intellectual deficits, multiple
DE skeletal defects, cryptorchidism, and bleeding diathesis. Individuals
DE with Noonan syndrome are at risk of juvenile myelomonocytic leukemia,
DE a myeloproliferative disorder characterized by excessive production of
DE myelomonocytic cells. NS2 inheritance is autosomal recessive.
SY Noonan syndrome 2, autosomal recessive.
DR MIM; 605275; phenotype.
DR MedGen; C1854469.
DR MeSH; D009634.
//
ID Noonan syndrome 3.
AC DI-02073
AR NS3.
DE A form of Noonan syndrome, a disease characterized by short stature,
DE facial dysmorphic features such as hypertelorism, a downward eyeslant
DE and low-set posteriorly rotated ears, and a high incidence of
DE congenital heart defects and hypertrophic cardiomyopathy. Other
DE features can include a short neck with webbing or redundancy of skin,
DE deafness, motor delay, variable intellectual deficits, multiple
DE skeletal defects, cryptorchidism, and bleeding diathesis. Individuals
DE with Noonan syndrome are at risk of juvenile myelomonocytic leukemia,
DE a myeloproliferative disorder characterized by excessive production of
DE myelomonocytic cells.
DR MIM; 609942; phenotype.
DR MedGen; C1860991.
DR MeSH; D009634.
//
ID Noonan syndrome 4.
AC DI-02074
AR NS4.
DE A form of Noonan syndrome, a disease characterized by short stature,
DE facial dysmorphic features such as hypertelorism, a downward eyeslant
DE and low-set posteriorly rotated ears, and a high incidence of
DE congenital heart defects and hypertrophic cardiomyopathy. Other
DE features can include a short neck with webbing or redundancy of skin,
DE deafness, motor delay, variable intellectual deficits, multiple
DE skeletal defects, cryptorchidism, and bleeding diathesis. Individuals
DE with Noonan syndrome are at risk of juvenile myelomonocytic leukemia,
DE a myeloproliferative disorder characterized by excessive production of
DE myelomonocytic cells. Some patients with NS4 have polyarticular
DE villonodular synovitis.
DR MIM; 610733; phenotype.
DR MedGen; C1853120.
DR MeSH; D009634.
//
ID Noonan syndrome 5.
AC DI-02075
AR NS5.
DE A form of Noonan syndrome, a disease characterized by short stature,
DE facial dysmorphic features such as hypertelorism, a downward eyeslant
DE and low-set posteriorly rotated ears, and a high incidence of
DE congenital heart defects and hypertrophic cardiomyopathy. Other
DE features can include a short neck with webbing or redundancy of skin,
DE deafness, motor delay, variable intellectual deficits, multiple
DE skeletal defects, cryptorchidism, and bleeding diathesis. Individuals
DE with Noonan syndrome are at risk of juvenile myelomonocytic leukemia,
DE a myeloproliferative disorder characterized by excessive production of
DE myelomonocytic cells.
DR MIM; 611553; phenotype.
DR MedGen; C1969057.
DR MeSH; D009634.
//
ID Noonan syndrome 6.
AC DI-02558
AR NS6.
DE A form of Noonan syndrome, a disease characterized by short stature,
DE facial dysmorphic features such as hypertelorism, a downward eyeslant
DE and low-set posteriorly rotated ears, and a high incidence of
DE congenital heart defects and hypertrophic cardiomyopathy. Other
DE features can include a short neck with webbing or redundancy of skin,
DE deafness, motor delay, variable intellectual deficits, multiple
DE skeletal defects, cryptorchidism, and bleeding diathesis. Individuals
DE with Noonan syndrome are at risk of juvenile myelomonocytic leukemia,
DE a myeloproliferative disorder characterized by excessive production of
DE myelomonocytic cells.
DR MIM; 613224; phenotype.
DR MedGen; C2750732.
DR MeSH; D009634.
//
ID Noonan syndrome 7.
AC DI-02990
AR NS7.
DE A form of Noonan syndrome, a disease characterized by short stature,
DE facial dysmorphic features such as hypertelorism, a downward eyeslant
DE and low-set posteriorly rotated ears, and a high incidence of
DE congenital heart defects and hypertrophic cardiomyopathy. Other
DE features can include a short neck with webbing or redundancy of skin,
DE deafness, motor delay, variable intellectual deficits, multiple
DE skeletal defects, cryptorchidism, and bleeding diathesis. Individuals
DE with Noonan syndrome are at risk of juvenile myelomonocytic leukemia,
DE a myeloproliferative disorder characterized by excessive production of
DE myelomonocytic cells.
DR MIM; 613706; phenotype.
DR MedGen; C3150970.
DR MeSH; D009634.
//
ID Noonan syndrome 8.
AC DI-03849
AR NS8.
DE A form of Noonan syndrome, a disease characterized by short stature,
DE facial dysmorphic features such as hypertelorism, a downward eyeslant
DE and low-set posteriorly rotated ears, and a high incidence of
DE congenital heart defects and hypertrophic cardiomyopathy. Other
DE features can include a short neck with webbing or redundancy of skin,
DE deafness, motor delay, variable intellectual deficits, multiple
DE skeletal defects, cryptorchidism, and bleeding diathesis. Individuals
DE with Noonan syndrome are at risk of juvenile myelomonocytic leukemia,
DE a myeloproliferative disorder characterized by excessive production of
DE myelomonocytic cells.
DR MIM; 615355; phenotype.
DR MedGen; C3809233.
DR MedGen; CN178406.
DR MeSH; D009634.
//
ID Noonan syndrome 9.
AC DI-04518
AR NS9.
DE A form of Noonan syndrome, a disease characterized by short stature,
DE facial dysmorphic features such as hypertelorism, a downward eyeslant
DE and low-set posteriorly rotated ears, and a high incidence of
DE congenital heart defects and hypertrophic cardiomyopathy. Other
DE features can include a short neck with webbing or redundancy of skin,
DE deafness, motor delay, variable intellectual deficits, multiple
DE skeletal defects, cryptorchidism, and bleeding diathesis. Individuals
DE with Noonan syndrome are at risk of juvenile myelomonocytic leukemia,
DE a myeloproliferative disorder characterized by excessive production of
DE myelomonocytic cells.
DR MIM; 616559; phenotype.
DR MedGen; CN232945.
DR MeSH; D009634.
//
ID Noonan syndrome-like disorder with loose anagen hair 1.
AC DI-02076
AR NSLH1.
DE A syndrome characterized by Noonan dysmorphic features such as
DE macrocephaly, high forehead, hypertelorism, palpebral ptosis, low-set
DE and posteriorly rotated ears, short and webbed neck, pectus anomalies,
DE in association with pluckable, sparse, thin and slow-growing hair.
SY Mazzanti syndrome.
SY NSLH.
SY Tosti syndrome.
DR MIM; 607721; phenotype.
DR MedGen; C1843181.
DR MeSH; D019465.
//
ID Noonan syndrome-like disorder with loose anagen hair 2.
AC DI-05011
AR NSLH2.
DE A syndrome characterized by Noonan dysmorphic features such as
DE macrocephaly, high forehead, hypertelorism, palpebral ptosis, low-set
DE and posteriorly rotated ears, short and webbed neck, pectus anomalies,
DE in association with pluckable, sparse, thin and slow-growing hair.
DR MIM; 617506; phenotype.
DR MedGen; CN244048.
DR MeSH; D019465.
//
ID Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia.
AC DI-02913
AR NSLL.
DE A syndrome characterized by a phenotype reminiscent of Noonan
DE syndrome. Clinical features are highly variable, including facial
DE dysmorphism, short neck, developmental delay, hyperextensible joints
DE and thorax abnormalities with widely spaced nipples. The facial
DE features consist of triangular face with hypertelorism, large low-set
DE ears, ptosis, and flat nasal bridge. Some patients manifest cardiac
DE defects. Some have an increased risk for certain malignancies,
DE particularly juvenile myelomonocytic leukemia.
DR MIM; 613563; phenotype.
DR MedGen; C3150803.
DR MeSH; D019465.
//
ID Norrie disease.
AC DI-02079
AR ND.
DE Recessive disorder characterized by very early childhood blindness due
DE to degenerative and proliferative changes of the neuroretina.
DE Approximately 50% of patients show some form of progressive mental
DE disorder, often with psychotic features, and about one-third of
DE patients develop sensorineural deafness in the second decade. In
DE addition, some patients have more complex phenotypes, including growth
DE failure and seizure.
SY Atrophia bulborum hereditaria.
SY Episkopi blindness.
DR MIM; 310600; phenotype.
DR MedGen; C0266526.
//
ID North American Indian childhood cirrhosis.
AC DI-02080
AR NAIC.
DE Severe autosomal recessive intrahepatic cholestasis, originally
DE described in Ojibway-Cree children from northwestern Quebec. NAIC
DE typically presents with transient neonatal jaundice, in a child who is
DE otherwise healthy, and progresses to biliary cirrhosis and portal
DE hypertension. Biochemical and histopathological features suggest
DE involvement of the bile ducts rather than of the bile canaliculi. They
DE include elevated gamma glutamyltransferase and alkaline phosphatase
DE levels, and, typically, marked fibrosis around bile ducts. Clinically,
DE NAIC is distinct from other nonsyndromic familial cholestases because
DE of its marked cholangiopathic features and severe degree of fibrosis
DE on liver histology.
DR MIM; 604901; phenotype.
DR MedGen; C1858051.
//
ID Nystagmus congenital X-linked 1.
AC DI-02439
AR NYS1.
DE A condition defined as conjugated, spontaneous and involuntary ocular
DE oscillations that appear at birth or during the first three months of
DE life. Other associated features may include mildly decreased visual
DE acuity, strabismus, astigmatism, and occasionally head nodding.
SY Nystagmus 1 infantile X-linked.
SY Nystagmus congenital motor 1.
SY Nystagmus infantile idiopathic.
SY Nystagmus infantile periodic alternating X-linked.
SY XIPAN.
SY XLPAN.
DR MIM; 310700; phenotype.
DR MedGen; C1839580.
DR MedGen; C3151880.
DR MeSH; D020417.
//
ID Nystagmus congenital X-linked 6.
AC DI-02828
AR NYS6.
DE A condition defined as conjugated, spontaneous and involuntary ocular
DE oscillations that appear at birth or during the first three months of
DE life. Other associated features may include mildly decreased visual
DE acuity, strabismus, astigmatism, and occasionally head nodding.
DR MIM; 300814; phenotype.
DR MedGen; C3151752.
DR MeSH; D020417.
//
ID O'Donnell-Luria-Rodan syndrome.
AC DI-05620
AR ODLURO.
DE A neurodevelopmental disorder characterized by global developmental
DE delay, speech delay, intellectual disability and a subtle facial
DE gestalt. Additional common features include autism, seizures,
DE hypotonia and functional gastrointestinal abnormalities.
DR MIM; 618512; phenotype.
DR MedGen; CN261160.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Obesity.
AC DI-01221
AR OBESITY.
DE A condition characterized by an increase of body weight beyond the
DE limitation of skeletal and physical requirements, as the result of
DE excessive accumulation of body fat.
DR MIM; 601665; phenotype.
DR MedGen; C0028754.
DR MedGen; C0039870.
DR MeSH; D009765.
KW KW-0550:Obesity.
//
ID Obesity, early-onset, with adrenal insufficiency and red hair.
AC DI-02211
AR OBAIRH.
DE An autosomal recessive disorder characterized by early-onset obesity
DE due to severe hyperphagia, pigmentary abnormalities, mainly pale skin
DE and red hair, and secondary hypocortisolism.
SY Pro-opiomelanocortinin deficiency.
DR MIM; 609734; phenotype.
DR MedGen; C1857854.
DR MeSH; D009765.
KW KW-0550:Obesity.
//
ID Obesity, hyperphagia, and developmental delay.
AC DI-03120
AR OBHD.
DE A disorder characterized by early-onset obesity, hyperphagia, and
DE severe developmental delay in motor function, speech, and language.
DR MIM; 613886; phenotype.
DR MedGen; C3151303.
DR MeSH; D002658.
DR MeSH; D006963.
DR MeSH; D009765.
KW KW-0550:Obesity.
//
ID Occipital horn syndrome.
AC DI-00880
AR OHS.
DE An X-linked recessive disorder of copper metabolism. Common features
DE are unusual facial appearance, skeletal abnormalities, chronic
DE diarrhea and genitourinary defects. The skeletal abnormalities include
DE occipital horns, short, broad clavicles, deformed radii, ulnae and
DE humeri, narrowing of the rib cage, undercalcified long bones with thin
DE cortical walls and coxa valga.
SY Cutis laxa X-linked.
SY EDS9.
SY Ehlers-Danlos syndrome occipital horn type.
DR MIM; 304150; phenotype.
DR MedGen; C0268353.
DR MeSH; D003483.
//
ID Occult macular dystrophy.
AC DI-03012
AR OCMD.
DE An inherited macular dystrophy characterized by progressive loss of
DE macular function but normal ophthalmoscopic appearance. It is
DE typically characterized by a central cone dysfunction leading to a
DE loss of vision despite normal ophthalmoscopic appearance, normal
DE fluorescein angiography, and normal full-field electroretinogram
DE (ERGs), but the amplitudes of the focal macular ERGs and multifocal
DE ERGs are significantly reduced at the central retina.
SY OMD.
DR MIM; 613587; phenotype.
DR MedGen; C3150833.
DR MeSH; D008268.
//
ID Oculoauricular syndrome.
AC DI-02084
AR OCACS.
DE A syndrome characterized by microphthalmia, microcornea, anterior
DE segment dysgenesis, cataract, ocular coloboma, retinal pigment
DE epithelium abnormalities, rod-cone dystrophy, and anomalies of the
DE external ear.
SY Schorderet-Munier-Franceschetti syndrome.
DR MIM; 612109; phenotype.
DR MedGen; C2677500.
DR MeSH; D005124.
KW KW-0898:Cataract.
KW KW-1013:Microphthalmia.
//
ID Oculodentodigital dysplasia.
AC DI-01222
AR ODDD.
DE A disease characterized by a typical facial appearance and variable
DE involvement of the eyes, dentition, and fingers. Characteristic facial
DE features include a narrow, pinched nose with hypoplastic alae nasi,
DE prominent columella and thin anteverted nares together with a narrow
DE nasal bridge, and prominent epicanthic folds giving the impression of
DE hypertelorism. The teeth are usually small and carious. Typical eye
DE findings include microphthalmia and microcornea. The characteristic
DE digital malformation is complete syndactyly of the fourth and fifth
DE fingers (syndactyly type III) but the third finger may be involved and
DE associated camptodactyly is a common finding. Cardiac abnormalities
DE are observed in rare instances.
SY Oculo-dento-digital dysplasia.
SY Oculodentodigital syndrome.
SY Oculo-dento-digital syndrome.
SY Oculodentoosseous dysplasia.
SY ODDS.
SY ODD syndrome.
SY ODOD.
DR MIM; 164200; phenotype.
DR MedGen; C0812437.
DR MeSH; D008850.
DR MeSH; D013576.
DR MeSH; D014071.
//
ID Oculodentodigital dysplasia, autosomal recessive.
AC DI-01251
AR ODDD-AR.
DE A disease characterized by a typical facial appearance and variable
DE involvement of the eyes, dentition, and fingers. Characteristic facial
DE features include a narrow, pinched nose with hypoplastic alae nasi,
DE prominent columella and thin anteverted nares together with a narrow
DE nasal bridge, and prominent epicanthic folds giving the impression of
DE hypertelorism. The teeth are usually small and carious. Typical eye
DE findings include microphthalmia and microcornea. The characteristic
DE digital malformation is complete syndactyly of the fourth and fifth
DE fingers (syndactyly type III) but the third finger may be involved and
DE associated camptodactyly is a common finding. Cardiac abnormalities
DE are observed in rare instances.
SY Autosomal recessive oculodentoosseous dysplasia.
SY Autosomal recessive ODDD.
SY Autosomal recessive ODD syndrome.
SY Autosomal recessive ODOD.
DR MIM; 257850; phenotype.
DR MedGen; C2749477.
DR MeSH; D008850.
DR MeSH; D013576.
DR MeSH; D014071.
//
ID Oculoectodermal syndrome.
AC DI-05645
AR OES.
DE A syndrome characterized by the association of epibulbar dermoids and
DE aplasia cutis congenita. Affected individuals show multiple,
DE asymmetric, atrophic, non-scarring and hairless regions that may be
DE associated with hamartomas. Ectodermal changes include linear
DE hyperpigmentation that may follow the lines of Blaschko and rarely
DE epidermal nevus-like lesions. Epibulbar dermoids may be uni-or
DE bilateral. Additional ocular anomalies such as skin tags of the upper
DE eyelid, rarely optic nerve or retinal changes, and microphthalmia can
DE be present. The phenotypic expression is highly variable, and various
DE other abnormalities have occasionally been reported including growth
DE failure, lymphedema, cardiovascular defects, as well as
DE neurodevelopmental symptoms like developmental delay, epilepsy,
DE learning difficulties, and behavioral abnormalities. Benign tumor-like
DE lesions such as nonossifying fibromas of the long bones and giant cell
DE granulomas of the jaws have repeatedly been observed and appear to be
DE age-dependent, becoming a common manifestation in individuals aged 5
DE years or older.
SY Aplasia cutis congenita with epibulbar dermoids.
SY Toriello-Lacassie-Droste syndrome.
DR MIM; 600268; phenotype.
DR MedGen; C1838329.
DR MeSH; D003884.
DR MeSH; D004476.
KW KW-0038:Ectodermal dysplasia.
//
ID Oculogastrointestinal neurodevelopmental syndrome.
AC DI-06103
AR OGIN.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE growth deficits, microcephaly, global developmental delay, hearing
DE loss, and microphthalmia and/or coloboma. Other congenital anomalies
DE include imperforate anus, horseshoe kidney, and structural cardiac
DE defects. Some patients have been reported with normal motor and
DE cognitive development.
DR MIM; 619318; phenotype.
DR MedGen; CN296590.
DR MeSH; D065886.
KW KW-0209:Deafness.
KW KW-1013:Microphthalmia.
//
ID Oculomotor-abducens synkinesis.
AC DI-06034
AR OCABSN.
DE An autosomal recessive disorder characterized by ptosis and elevation
DE of the eyelid on ipsilateral abduction. OCABSN features are consistent
DE with abnormal innervation of the levator palpebrae superioris muscle,
DE which raises the eyelid, and the lateral rectus muscle, which controls
DE lateral eye movement.
DR MIM; 619215; phenotype.
DR MedGen; CN295793.
DR MeSH; D015835.
DR MeSH; D046608.
//
ID Oculopharyngeal muscular dystrophy.
AC DI-00881
AR OPMD.
DE A form of late-onset slowly progressive myopathy characterized by
DE eyelid ptosis, dysphagia and, sometimes by other cranial and limb-
DE muscle involvement.
DR MIM; 164300; phenotype.
DR MedGen; C0270952.
DR MeSH; D039141.
//
ID Oculopharyngodistal myopathy 1.
AC DI-05685
AR OPDM1.
DE A form of oculopharyngodistal myopathy, a muscle disorder
DE characterized by progressive ptosis, external ophthalmoplegia, and
DE weakness of the masseter, facial, pharyngeal, and distal limb muscles.
DE The myopathological features are presence of rimmed vacuoles in the
DE muscle fibers and myopathic changes of differing severity. OPDM1
DE inheritance pattern is autosomal dominant.
SY Faciooculolaryngopharyngeal myopathy with distal and respiratory involvement.
SY FOLP-DR.
SY Oculopharyngodistal myopathy.
SY OPDM.
DR MIM; 164310; phenotype.
DR MedGen; C1834014.
DR MeSH; D039141.
//
ID Oculopharyngodistal myopathy 2.
AC DI-05872
AR OPDM2.
DE A form of oculopharyngodistal myopathy, a muscle disorder
DE characterized by progressive ptosis, external ophthalmoplegia, and
DE weakness of the masseter, facial, pharyngeal, and distal limb muscles.
DE The myopathological features are presence of rimmed vacuoles in the
DE muscle fibers and myopathic changes of differing severity. OPDM2
DE inheritance pattern is autosomal dominant.
DR MIM; 618940; phenotype.
DR MedGen; CN283268.
DR MeSH; D039141.
//
ID Oculopharyngodistal myopathy 3.
AC DI-06192
AR OPDM3.
DE A form of oculopharyngodistal myopathy, a rare hereditary muscle
DE disease characterized by progressive distal limb weakness, ptosis,
DE ophthalmoplegia, bulbar muscle weakness and rimmed vacuoles on muscle
DE biopsy. In addition to muscular features, OPDM3 patients may develop
DE pigmentary retinopathy, peripheral neuropathy, or hearing loss.
DE Cognition is usually not affected, but there may be deficits or
DE psychiatric manifestations. Brain imaging tends to show a
DE leukoencephalopathy, often with a characteristic linear signal along
DE the corticomedullary junction on brain imaging. OPDM3 is a slowly
DE progressive form with an autosomal dominant transmission pattern, and
DE variable age at onset ranging from childhood to late adulthood.
DR MIM; 619473; phenotype.
DR MedGen; CN301128.
DR MeSH; D039141.
//
ID Oculopharyngodistal myopathy 4.
AC DI-06365
AR OPDM4.
DE A form of oculopharyngodistal myopathy, a muscle disorder
DE characterized by progressive ptosis, external ophthalmoplegia, and
DE weakness of the masseter, facial, pharyngeal, and distal limb muscles.
DE The myopathological features are presence of rimmed vacuoles in the
DE muscle fibers and myopathic changes of differing severity. OPDM4 is an
DE autosomal dominant form characterized by slow progression and onset of
DE symptoms in the second or third decades.
DR MIM; 619790; phenotype.
DR MedGen; CN307058.
DR MeSH; D039141.
//
ID Oculoskeletodental syndrome.
AC DI-05573
AR OCSKD.
DE An autosomal recessive syndrome characterized by congenital cataracts,
DE short stature, dysmorphic features with coarse facies, dental
DE anomalies, multiple skeletal abnormalities, and neurological
DE manifestations. Other recurrent features include hearing loss,
DE secondary glaucoma, and nephrocalcinosis.
SY Cataracts, early-onset, with skeletal and dental anomalies.
DR MIM; 618440; phenotype.
DR MedGen; CN258760.
DR MeSH; D000015.
KW KW-0242:Dwarfism.
KW KW-0898:Cataract.
//
ID Odonto-onycho-dermal dysplasia.
AC DI-00882
AR OODD.
DE A rare autosomal recessive ectodermal dysplasia characterized by dry
DE hair, severe hypodontia, smooth tongue with marked reduction of
DE fungiform and filiform papillae, onychodysplasia, keratoderma and
DE hyperhidrosis of palms and soles, and hyperkeratosis of the skin.
SY ECTD16.
SY Ectodermal dysplasia 16, hypo- or hyperhidrotic/hair/tooth/nail type.
SY Tricho-odonto-onycho-dermal dysplasia.
DR MIM; 257980; phenotype.
DR MedGen; C0796093.
DR MeSH; D004476.
KW KW-0038:Ectodermal dysplasia.
//
ID Odontochondrodysplasia 1.
AC DI-05493
AR ODCD1.
DE An autosomal recessive disorder of skeletal and dental development
DE characterized by mesomelic shortening of tubular bones, ligamentous
DE laxity, scoliosis, and dentinogenesis imperfecta involving both
DE primary and secondary dentition. Radiologic features include trident
DE pelvis, posteriorly flattened vertebrae, and brachydactyly with cone-
DE shaped epiphyses.
SY Goldblatt syndrome.
SY ODCD.
SY Spondylometaphyseal dysplasia with dentinogenesis imperfecta.
DR MIM; 184260; phenotype.
DR MedGen; C2745953.
DR MeSH; D010009.
DR MeSH; D014071.
//
ID Odontochondrodysplasia 2 with hearing loss and diabetes.
AC DI-06079
AR ODCD2.
DE An autosomal recessive disorder characterized by dentinogenesis
DE imperfecta, delayed tooth eruption, growth retardation with
DE proportionate short stature, skeletal abnormalities, and dysmorphic
DE facies in association with insulin-dependent diabetes mellitus,
DE sensorineural hearing loss, and mild intellectual disability.
DR MIM; 619269; phenotype.
DR MedGen; CN296332.
DR MeSH; D001847.
DR MeSH; D003920.
DR MeSH; D008607.
DR MeSH; D014071.
DR MeSH; D034381.
KW KW-0209:Deafness.
KW KW-0219:Diabetes mellitus.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
//
ID Ohdo syndrome, SBBYS variant.
AC DI-03311
AR SBBYSS.
DE A syndrome characterized by distinctive facial appearance with severe
DE blepharophimosis, an immobile mask-like face, a bulbous nasal tip, and
DE a small mouth with a thin upper lip. The condition presents in infancy
DE with severe hypotonia and feeding problems. Associated skeletal
DE problems include joint laxity, abnormally long thumbs and great toes,
DE and dislocated or hypoplastic patellae. Structural cardiac defects are
DE present in around 50% of cases, and dental anomalies, including small
DE and pointed teeth, are common. Optic atrophy and conductive or
DE sensorineural deafness are repeatedly reported. Many affected
DE individuals have abnormalities of thyroid structure or function.
DE SBBYSS is usually associated with severe intellectual disability,
DE delayed motor milestones, and significantly impaired speech.
SY Say-Barber-Biesecker variant of Ohdo syndrome.
SY Say-Barber-Biesecker-Young-Simpson syndrome.
SY Young-Simpson syndrome.
SY YSS.
DR MIM; 603736; phenotype.
DR MedGen; C1863557.
DR MeSH; D000015.
DR MeSH; D008607.
DR MeSH; D016569.
//
ID Ohdo syndrome, X-linked.
AC DI-03741
AR OHDOX.
DE A syndrome characterized by intellectual disability, feeding problems,
DE and distinctive facial appearance with coarse facial features, severe
DE blepharophimosis, ptosis, a bulbous nose, micrognathia and a small
DE mouth. Dental hypoplasia and deafness can be considered as common
DE manifestations of the syndrome. Male patients show cryptorchidism and
DE scrotal hypoplasia.
SY Ohdo syndrome Maat-Kievit-Brunner type.
SY Ohdo syndrome MKB type.
DR MIM; 300895; phenotype.
DR MedGen; C3698541.
DR MedGen; CN169514.
DR MeSH; D001763.
DR MeSH; D008607.
DR MeSH; D016569.
KW KW-0991:Intellectual disability.
//
ID Okur-Chung neurodevelopmental syndrome.
AC DI-04799
AR OCNDS.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE developmental delay, intellectual disability, behavioral problems,
DE hypotonia, speech problems, microcephaly, pachygyria and variable
DE dysmorphic features.
DR MIM; 617062; phenotype.
DR MedGen; CN237805.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Oligodontia-colorectal cancer syndrome.
AC DI-02092
AR ODCRCS.
DE Affected individuals manifest severe tooth agenesis and colorectal
DE cancer or precancerous lesions of variable types.
DR MIM; 608615; phenotype.
DR MedGen; C1837750.
//
ID Oliver-McFarlane syndrome.
AC DI-04369
AR OMCS.
DE A rare autosomal recessive, congenital syndrome characterized by
DE trichomegaly, severe chorioretinal atrophy and multiple pituitary
DE hormone deficiencies. It results in intellectual impairment and
DE dwarfism, if untreated. Clinical features include hypogonadotropic
DE hypogonadism during puberty, pigmentary retinal degeneration, ataxia,
DE spastic paraplegia, and peripheral neuropathy.
SY Congenital trichomegaly, pigmentary retinal degeneration, and short stature.
SY Trichomegaly, retina pigmentary degeneration, dwarfism.
SY Trichomegaly retina pigmentary degeneration dwarfism.
DR MIM; 275400; phenotype.
DR MedGen; C1848745.
DR MeSH; D002658.
DR MeSH; D004392.
DR MeSH; D006983.
DR MeSH; D058499.
KW KW-0242:Dwarfism.
KW KW-0682:Retinitis pigmentosa.
KW KW-0991:Intellectual disability.
//
ID Olmsted syndrome.
AC DI-03430
AR OLMS.
DE A rare congenital disorder characterized by bilateral mutilating
DE palmoplantar keratoderma and periorificial keratotic plaques with
DE severe itching at all lesions. Diffuse alopecia, constriction of
DE digits, and onychodystrophy have also been reported. Infections and
DE squamous cell carcinomas can arise on the keratotic areas. The digital
DE constriction may progress to autoamputation of fingers and toes.
SY Mutilating palmoplantar keratoderma with periorificial keratotic plaques.
DR MIM; 614594; phenotype.
DR MedGen; C2609071.
DR MeSH; D007645.
KW KW-1007:Palmoplantar keratoderma.
//
ID Olmsted syndrome 2.
AC DI-06019
AR OLMS2.
DE A form of Olmsted syndrome, a rare congenital disorder characterized
DE by bilateral mutilating palmoplantar keratoderma and periorificial
DE keratotic plaques with severe itching at all lesions. Diffuse
DE alopecia, constriction of digits, and onychodystrophy have also been
DE reported. Infections and squamous cell carcinomas can arise on the
DE keratotic areas. The digital constriction may progress to
DE autoamputation of fingers and toes. OLMS2 is an autosomal dominant
DE form with onset in the first months of life or in early childhood.
SY Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 2.
SY PPKM2.
DR MIM; 619208; phenotype.
DR MedGen; CN295312.
DR MeSH; D007645.
KW KW-1007:Palmoplantar keratoderma.
//
ID Olmsted syndrome, X-linked.
AC DI-04106
AR OLMSX.
DE A rare congenital disorder characterized by bilateral mutilating
DE palmoplantar keratoderma and periorificial keratotic plaques with
DE severe itching at all lesions. Diffuse alopecia, constriction of
DE digits, and onychodystrophy have also been reported. Infections and
DE squamous cell carcinomas can arise on the keratotic areas. The digital
DE constriction may progress to autoamputation of fingers and toes.
SY Mutilating palmoplantar keratoderma with periorificial keratotic plaques, X-linked.
SY PPKMX.
DR MIM; 300918; phenotype.
DR MedGen; C3806745.
DR MedGen; CN186175.
DR MeSH; D007645.
KW KW-1007:Palmoplantar keratoderma.
//
ID Omenn syndrome.
AC DI-02093
AR OS.
DE Severe immunodeficiency characterized by the presence of activated,
DE anergic, oligoclonal T-cells, hypereosinophilia, and high IgE levels.
DR MIM; 603554; phenotype.
DR MedGen; C1801959.
DR MedGen; C2931884.
//
ID Omodysplasia 1.
AC DI-02618
AR OMOD1.
DE A rare autosomal recessive skeletal dysplasia characterized by facial
DE dysmorphism and severe congenital micromelia with shortening and
DE distal tapering of the humeri and femora, to give a club-like
DE appearance. Typical facial features include a prominent forehead,
DE frontal bossing, short nose with a depressed broad bridge, short
DE columella, anteverted nostrils, long philtrum, and small chin.
SY Micromelic dysplasia congenital with dislocation of radius.
SY Omodysplasia autosomal recessive.
SY Omodysplasia generalized form.
DR MIM; 258315; phenotype.
DR MedGen; C1850318.
DR MedGen; C2936816.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Omodysplasia 2.
AC DI-05491
AR OMOD2.
DE A rare autosomal dominant skeletal dysplasia characterized by short
DE humeri, radial head dislocation, short first metacarpals, facial
DE dysmorphism and genitourinary anomalies.
SY Omodysplasia, autosomal dominant.
DR MIM; 164745; phenotype.
DR MedGen; C2750355.
DR MeSH; D010009.
//
ID Omphalocele, autosomal.
AC DI-03657
AR OMPHA.
DE An omphalocele is an abdominal wall defect limited to an open
DE umbilical ring, and is characterized by the herniation of membrane-
DE covered internal organs into the open base of the umbilical cord. It
DE appears as a skin-covered protrusion at the umbilicus during crying,
DE coughing, or straining.
SY Chromosome 1p31 duplication syndrome.
SY Omphalocele due to duplication of 1p31.3.
DR MIM; 164750; phenotype.
DR MedGen; C3277235.
DR MeSH; D006554.
//
ID Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome.
AC DI-06139
AR OORS.
DE An autosomal recessive disorder characterized by global developmental
DE delay, impaired intellectual development, seizures or tonic posturing,
DE dysmorphic facial features, and hypoplastic terminal phalanges and
DE nails.
SY Glycosylphosphatidylinositol biosynthesis defect 24.
SY GPIBD24.
SY OORS syndrome.
DR MIM; 619356; phenotype.
DR MedGen; CN297337.
DR MeSH; D001848.
DR MeSH; D008607.
DR MeSH; D009260.
DR MeSH; D012640.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Oocyte maturation defect 1.
AC DI-04091
AR OOMD1.
DE An infertility disorder caused by defective oocyte maturation that
DE results in abnormal eggs lacking a zona pellucida. Affected females
DE have normal menstrual cycles and sex hormone levels, no obstruction in
DE the fallopian tubes or abnormalities of the uterus or adnexa.
SY OOMD.
DR MIM; 615774; phenotype.
DR MedGen; CN186706.
DR MeSH; D007247.
//
ID Oocyte maturation defect 10.
AC DI-06030
AR OOMD10.
DE An autosomal recessive infertility disorder due to abnormal
DE fertilization of mature oocytes, with development of multiple
DE pronuclei or absent pronucleus, and early embryonic arrest.
DR MIM; 619176; phenotype.
DR MedGen; CN295260.
DR MeSH; D007247.
//
ID Oocyte maturation defect 11.
AC DI-06281
AR OOMD11.
DE An autosomal recessive disorder characterized by decreased or absent
DE fertility and poor embryonic outcomes with assisted reproductive
DE technology.
DR MIM; 619643; phenotype.
DR MedGen; CN305006.
DR MeSH; D007247.
//
ID Oocyte maturation defect 12.
AC DI-06313
AR OOMD12.
DE An autosomal recessive disorder characterized by infertility due to
DE early embryonic arrest.
DR MIM; 619697; phenotype.
DR MedGen; CN305741.
DR MeSH; D007247.
//
ID Oocyte maturation defect 2.
AC DI-04613
AR OOMD2.
DE An autosomal dominant infertility disorder caused by defective oocyte
DE maturation. Oocytes are arrested at metaphase I, and have an abnormal
DE or no detectable spindle on polarization microscopy.
DR MIM; 616780; phenotype.
DR MedGen; CN235180.
DR MeSH; D007247.
//
ID Oocyte maturation defect 3.
AC DI-05111
AR OOMD3.
DE An autosomal dominant infertility disorder characterized by abnormal
DE oocytes that lack the zona pellucida, and oocytes degeneration.
DR MIM; 617712; phenotype.
DR MedGen; CN523306.
DR MeSH; D007247.
//
ID Oocyte maturation defect 4.
AC DI-05112
AR OOMD4.
DE An infertility disorder characterized by oocyte maturation arrest that
DE can occur at different stages of maturation. Some oocytes exhibit
DE maturation arrest at the germinal vesicle stage and others at the
DE metaphase I stage. Oocytes progressing to polar body I either undergo
DE fertilization failure or, in those that are fertilized, early
DE embryonic arrest.
DR MIM; 617743; phenotype.
DR MedGen; CN562785.
DR MeSH; D007247.
//
ID Oocyte maturation defect 5.
AC DI-05264
AR OOMD5.
DE An autosomal recessive infertility disorder characterized by oocyte
DE inability to exit metaphase II, resulting in fertilization failure.
DR MIM; 617996; phenotype.
DR MedGen; CN238505.
DR MeSH; D007247.
//
ID Oocyte maturation defect 6.
AC DI-05501
AR OOMD6.
DE An autosomal recessive infertility disorder characterized by oocyte
DE fertilization failure, due to defective sperm-binding to an abnormally
DE thin zona pellucida in patient oocytes.
DR MIM; 618353; phenotype.
DR MedGen; CN258242.
DR MeSH; D007247.
//
ID Oocyte maturation defect 7.
AC DI-05642
AR OOMD7.
DE An autosomal dominant infertility disorder due to oocyte degeneration
DE and death, which may occur before or after fertilization.
DR MIM; 618550; phenotype.
DR MedGen; CN262218.
DR MeSH; D007247.
//
ID Oocyte maturation defect 8.
AC DI-05911
AR OOMD8.
DE An autosomal recessive infertility disorder due to failure of the
DE fertilized ovum to undergo zygotic cleavage.
DR MIM; 619009; phenotype.
DR MedGen; CN283352.
DR MeSH; D007247.
//
ID Oocyte maturation defect 9.
AC DI-05912
AR OOMD9.
DE An autosomal recessive infertility disorder due to oocyte meiotic
DE arrest at metaphase I. Abnormal zygotic cleavage has been observed in
DE some patients.
DR MIM; 619011; phenotype.
DR MedGen; CN283354.
DR MeSH; D007247.
//
ID Ophthalmoacromelic syndrome.
AC DI-03004
AR OAS.
DE A rare disorder presenting with ocular anomalies, ranging from mild
DE microphthalmia to true anophthalmia, and limb anomalies. Limb
DE malformations include fused 4th and 5th metacarpals and short 5th
DE finger in hands, and oligodactyly in foot (four toes). Most patients
DE have bilateral anophthalmia/ microphthalmia, but unilateral
DE abnormality is also noted. Other malformations are rare, but venous or
DE vertebral anomaly was recognized each in single cases.
SY Anophthalmia-syndactyly.
SY Microphthalmia with limb anomalies.
SY MLA.
SY Waardenburg anophthalmia syndrome.
DR MIM; 206920; phenotype.
DR MedGen; C0599973.
DR MeSH; D008850.
KW KW-1013:Microphthalmia.
//
ID Ophthalmoplegia, external, with rib and vertebral anomalies.
AC DI-05356
AR EORVA.
DE An autosomal recessive disorder characterized by congenital
DE nonprogressive external ophthalmoplegia, ptosis, scoliosis,
DE torticollis, and vertebral and rib anomalies.
DR MIM; 618155; phenotype.
DR MedGen; CN257745.
DR MeSH; D009886.
//
ID Opitz GBBB syndrome 1.
AC DI-02094
AR GBBB1.
DE A congenital midline malformation syndrome characterized by
DE hypertelorism, genital-urinary defects such as hypospadias in males
DE and splayed labia in females, cleft lip/palate,
DE laryngotracheoesophageal abnormalities, imperforate anus,
DE developmental delay and congenital heart defects.
SY BBBG1.
SY GGGB1.
SY Hypertelorism-hypospadias syndrome.
SY Hypertelorism with esophageal abnormality and hypospadias.
SY Opitz BBBG syndrome type I.
SY Opitz GBBB syndrome type I.
SY Opitz GBBB syndrome X-linked.
SY Opitz-G syndrome type I.
SY Opitz syndrome.
SY Opitz syndrome X-linked.
SY OS.
SY OSX.
SY Telecanthus-hypospadias syndrome.
DR MIM; 300000; phenotype.
DR MedGen; C0175696.
DR MedGen; C2936904.
DR MeSH; D006972.
DR MeSH; D007021.
//
ID Opitz-Kaveggia syndrome.
AC DI-02095
AR OKS.
DE X-linked disorder characterized by intellectual disability, relative
DE macrocephaly, hypotonia and constipation.
SY FGS.
SY FGS1.
SY FG syndrome.
SY FG syndrome type 1.
DR MIM; 305450; phenotype.
DR MedGen; C0220769.
//
ID Opsismodysplasia.
AC DI-03691
AR OPSMD.
DE A rare skeletal dysplasia involving delayed bone maturation. Clinical
DE signs observed at birth include short limbs, small hands and feet,
DE relative macrocephaly with a large anterior fontanel, and
DE characteristic craniofacial abnormalities including a prominent brow,
DE depressed nasal bridge, a small anteverted nose, and a relatively long
DE philtrum. Death secondary to respiratory failure during the first few
DE years of life has been reported, but there can be long-term survival.
DE Typical radiographic findings include shortened long bones with very
DE delayed epiphyseal ossification, severe platyspondyly, metaphyseal
DE cupping, and characteristic abnormalities of the metacarpals and
DE phalanges.
DR MIM; 258480; phenotype.
DR MedGen; C0432219.
DR MeSH; D010009.
//
ID Optic atrophy 1.
AC DI-02097
AR OPA1.
DE A condition that features progressive visual loss in association with
DE optic atrophy. Atrophy of the optic disk indicates a deficiency in the
DE number of nerve fibers which arise in the retina and converge to form
DE the optic disk, optic nerve, optic chiasm and optic tracts. OPA1 is
DE characterized by an insidious onset of visual impairment in early
DE childhood with moderate to severe loss of visual acuity, temporal
DE optic disk pallor, color vision deficits, and centrocecal scotoma of
DE variable density.
SY Kjer-type optic atrophy.
SY OAK.
SY Optic atrophy juvenile.
SY Optic atrophy Kjer type.
DR MIM; 165500; phenotype.
DR MedGen; C0338508.
DR MeSH; D029241.
//
ID Optic atrophy 10 with or without ataxia, intellectual disability, and seizures.
AC DI-04624
AR OPA10.
DE An autosomal recessive disease characterized by progressive visual
DE loss in association with optic atrophy. Atrophy of the optic disk
DE indicates a deficiency in the number of nerve fibers which arise in
DE the retina and converge to form the optic disk, optic nerve, optic
DE chiasm and optic tracts. OPA10 patients may also manifest mild ataxia,
DE mild intellectual disability and, rarely, generalized seizures.
DR MIM; 616732; phenotype.
DR MedGen; CN234752.
DR MeSH; D015418.
//
ID Optic atrophy 11.
AC DI-04928
AR OPA11.
DE An autosomal recessive disease characterized by progressive visual
DE loss in association with optic atrophy. Atrophy of the optic disk
DE indicates a deficiency in the number of nerve fibers which arise in
DE the retina and converge to form the optic disk, optic nerve, optic
DE chiasm and optic tracts. OPA11 patients also manifest delayed
DE psychomotor development, intellectual disability, ataxia, and
DE leukoencephalopathy on brain imaging.
DR MIM; 617302; phenotype.
DR MedGen; CN239957.
DR MeSH; D015418.
//
ID Optic atrophy 12.
AC DI-05893
AR OPA12.
DE An autosomal dominant disease characterized by progressive visual loss
DE in association with optic atrophy. Atrophy of the optic disk indicates
DE a deficiency in the number of nerve fibers which arise in the retina
DE and converge to form the optic disk, optic nerve, optic chiasm and
DE optic tracts. OPA12 patients manifest slowly progressive visual
DE impairment with onset usually in the first decade. Some patients may
DE exhibit additional features including impaired intellectual
DE development, dystonia, movement disorders, or ataxia.
DR MIM; 618977; phenotype.
DR MedGen; CN283325.
DR MeSH; D015418.
//
ID Optic atrophy 13 with retinal and foveal abnormalities.
AC DI-05921
AR OPA13.
DE An autosomal dominant disease characterized by visual impairment in
DE association with bilateral optic atrophy. Atrophy of the optic disk
DE indicates a deficiency in the number of nerve fibers which arise in
DE the retina and converge to form the optic disk, optic nerve, optic
DE chiasm and optic tracts. Many OPA13 patients also exhibit retinal
DE pigmentary defects, attenuated retinal vasculature, macular dystrophy,
DE and foveopathy. Some patients may develop additional systemic
DE features, including sensorineural deafness and progressive nephropathy
DE resulting in renal failure.
DR MIM; 165510; phenotype.
DR MedGen; C1833799.
DR MeSH; D015418.
//
ID Optic atrophy 3.
AC DI-02098
AR OPA3.
DE A condition that features progressive visual loss in association with
DE optic atrophy. Atrophy of the optic disk indicates a deficiency in the
DE number of nerve fibers which arise in the retina and converge to form
DE the optic disk, optic nerve, optic chiasm and optic tracts. OPA3 is
DE associated with cataract and a neurologic disorder characterized by
DE extrapyramidal signs and ataxia.
SY ADOAC.
SY Autosomal dominant optic atrophy and cataract.
SY Optic atrophy 3 autosomal dominant.
DR MIM; 165300; phenotype.
DR MedGen; C1833809.
DR MeSH; D015418.
//
ID Optic atrophy 5.
AC DI-05126
AR OPA5.
DE A form of optic atrophy, a disease characterized by progressive visual
DE loss in association with a deficiency in the number of nerve fibers
DE which arise in the retina and converge to form the optic disk, optic
DE nerve, optic chiasm and optic tracts. OPA5 is an autosomal dominant
DE non-syndromic form that manifests as slowly progressive visual loss
DE with variable onset from the first to third decades. Additional ocular
DE abnormalities may include central scotoma and dyschromatopsia.
DR MIM; 610708; phenotype.
DR MedGen; C1853139.
DR MeSH; D015418.
//
ID Optic atrophy 7 with or without auditory neuropathy.
AC DI-02531
AR OPA7.
DE A hereditary condition that features progressive visual loss in
DE association with optic atrophy. Atrophy of the optic disk indicates a
DE deficiency in the number of nerve fibers which arise in the retina and
DE converge to form the optic disk, optic nerve, optic chiasm and optic
DE tracts. OPA7 is an autosomal recessive juvenile-onset optic atrophy
DE characterized by severe bilateral deficiency in visual acuity, optic
DE disk pallor, and central scotoma. Some patients manifest hearing loss.
SY Optic atrophy 7.
DR MIM; 612989; phenotype.
DR MedGen; C2751812.
DR MeSH; D015418.
//
ID Optic atrophy 9.
AC DI-04381
AR OPA9.
DE A condition that features progressive visual loss in association with
DE optic atrophy. Atrophy of the optic disk indicates a deficiency in the
DE number of nerve fibers which arise in the retina and converge to form
DE the optic disk, optic nerve, optic chiasm and optic tracts.
DR MIM; 616289; phenotype.
DR MedGen; CN229336.
DR MeSH; D015418.
//
ID Optic disk anomalies with retinal and/or macular dystrophy.
AC DI-00757
AR ODRMD.
DE An ocular disorder characterized by optic nerve dysplasia, optic disk
DE anomalies, chorioretinal dystrophy and macular atrophy. Some patients
DE have microphthalmia.
DR MIM; 212550; phenotype.
DR MedGen; C1859311.
DR MeSH; D008850.
KW KW-1013:Microphthalmia.
//
ID Ornithine carbamoyltransferase deficiency.
AC DI-00883
AR OTCD.
DE An X-linked disorder of the urea cycle which causes a form of
DE hyperammonemia. Mutations with no residual enzyme activity are always
DE expressed in hemizygote males by a very severe neonatal hyperammonemic
DE coma that generally proves to be fatal. Heterozygous females are
DE either asymptomatic or express orotic aciduria spontaneously or after
DE protein intake. The disorder is treatable with supplemental dietary
DE arginine and low protein diet. The arbitrary classification of
DE patients into the 'neonatal' group (clinical hyperammonemia in the
DE first few days of life) and 'late' onset (clinical presentation after
DE the neonatal period) has been used to differentiate severe from mild
DE forms.
SY Hyperammonemia due to ornithine carbamoyltransferase deficiency.
SY Ornithine transcarbamylase deficiency.
SY OTC deficiency.
DR MIM; 311250; phenotype.
DR MedGen; C0268542.
DR MedGen; C1839530.
DR MeSH; D020163.
DR MeSH; D022124.
//
ID Orofacial cleft 8.
AC DI-00829
AR OFC8.
DE A birth defect consisting of cleft lips with or without cleft palate.
DE Cleft lips are associated with cleft palate in two-third of cases. A
DE cleft lip can occur on one or both sides and range in severity from a
DE simple notch in the upper lip to a complete opening in the lip
DE extending into the floor of the nostril and involving the upper gum.
SY Cleft lip with or without cleft palate, nonsyndromic, 8.
SY Non-syndromic cleft lip/palate 8.
SY Non-syndromic cleft lip with or without cleft palate 8.
DR MIM; 618149; phenotype.
DR MedGen; C1851878.
DR MedGen; C1851879.
DR MeSH; D002971.
//
ID Orofaciodigital syndrome 1.
AC DI-02099
AR OFD1.
DE A form of orofaciodigital syndrome, a group of heterogeneous disorders
DE characterized by abnormalities in the oral cavity, face, and digits
DE and associated phenotypic abnormalities that lead to the delineation
DE of various subtypes. OFD1 is X-linked dominant syndrome, lethal in
DE males. Craniofacial findings consist of facial asymmetry,
DE hypertelorism, median cleft, or pseudocleft of the upper lip,
DE hypoplasia of the alae nasi, oral clefts and abnormal frenulea, tongue
DE anomalies (clefting, cysts, hamartoma), and anomalous dentition
DE involving missing or extra teeth. Asymmetric brachydactyly and/or
DE syndactyly of the fingers and toes occur frequently. Approximately 50%
DE of OFD1 females have some degree of intellectual disability. Some
DE patients have structural central nervous system anomalies such as
DE agenesis of the corpus callosum, cerebellar agenesis, or a Dandy-
DE Walker malformation. Patients with OFD1 can develop fibrocystic
DE disease of the liver and pancreas, in addition to polycystic kidneys.
SY OFDS I.
SY Oral-facial-digital syndrome, type I.
SY Oral-facial-digital syndrome 1.
SY Orofaciodigital syndrome I.
SY Papillon-Leage and Psaume syndrome.
DR MIM; 311200; phenotype.
DR MedGen; C1510460.
DR MeSH; D009958.
KW KW-1186:Ciliopathy.
//
ID Orofaciodigital syndrome 14.
AC DI-04201
AR OFD14.
DE A form of orofaciodigital syndrome, a group of heterogeneous disorders
DE characterized by malformations of the oral cavity, face and digits,
DE and associated phenotypic abnormalities that lead to the delineation
DE of various subtypes. OFD14 patients show severe microcephaly, cerebral
DE malformations the molar tooth sign, and intellectual disability in
DE addition to canonical OFDS features.
DR MIM; 615948; phenotype.
DR MedGen; CN207829.
DR MeSH; D009958.
KW KW-1186:Ciliopathy.
//
ID Orofaciodigital syndrome 15.
AC DI-04826
AR OFD15.
DE A form of orofaciodigital syndrome, a group of heterogeneous disorders
DE characterized by malformations of the oral cavity, face and digits,
DE and associated phenotypic abnormalities that lead to the delineation
DE of various subtypes. OFD15 features include facial dysmorphism,
DE lobulated tongue, clefting of the alveolar ridges, left hand postaxial
DE polydactyly, broad right hallux and left hallux duplication, and
DE intermittent respiratory difficulty. Brain anomalies include vermis
DE hypoplasia with molar tooth sign, agenesis of corpus callosum, and
DE ventricular dilation. OFD15 inheritance is autosomal recessive.
SY OFDS XV.
SY Oro-facio-digital syndrome, XV.
SY Orofaciodigital syndrome XV.
DR MIM; 617127; phenotype.
DR MedGen; CN238514.
DR MeSH; D009958.
KW KW-1186:Ciliopathy.
//
ID Orofaciodigital syndrome 16.
AC DI-05037
AR OFD16.
DE A form of orofaciodigital syndrome, a group of heterogeneous disorders
DE characterized by malformations of the oral cavity, face and digits,
DE and associated phenotypic abnormalities that lead to the delineation
DE of various subtypes. OFD16 features include postaxial polydactyly of
DE the hands and feet, multiple tongue cysts, and dysmorphic features,
DE including frontal narrowing, short palpebral fissures, flat nasal
DE bridge, retrognathia, and low-set ears. Neurologic features include
DE delayed psychomotor development and severe cognitive impairment. OFD16
DE inheritance is autosomal recessive.
SY OFDS XVI.
SY Oral-facial-digital syndrome, type XVI.
SY Orofaciodigital syndrome XVI.
DR MIM; 617563; phenotype.
DR MedGen; CN317535.
DR MeSH; D009958.
KW KW-1186:Ciliopathy.
//
ID Orofaciodigital syndrome 17.
AC DI-05202
AR OFD17.
DE A form of orofaciodigital syndrome, a group of heterogeneous disorders
DE characterized by malformations of the oral cavity, face and digits,
DE and associated phenotypic abnormalities that lead to the delineation
DE of various subtypes. OFD17 inheritance is autosomal recessive.
SY OFDS XVII.
SY Oral-facial-digital syndrome, type XVII.
SY Orofaciodigital syndrome XVII.
DR MIM; 617926; phenotype.
DR MedGen; CN902091.
DR MeSH; D009958.
KW KW-1186:Ciliopathy.
//
ID Orofaciodigital syndrome 18.
AC DI-05224
AR OFD18.
DE A form of orofaciodigital syndrome, a group of heterogeneous disorders
DE characterized by malformations of the oral cavity, face and digits,
DE and associated phenotypic abnormalities that lead to the delineation
DE of various subtypes. OFD18 is an autosomal recessive form
DE characterized by short stature, brachymesophalangy, pre- and postaxial
DE polysyndactyly, and stocky femoral necks, as well as oral anomalies
DE and dysmorphic facial features.
SY OFDS XVIII.
SY Oral-facial-digital syndrome XVIII.
DR MIM; 617927; phenotype.
DR MedGen; CN244546.
DR MeSH; D009958.
KW KW-1186:Ciliopathy.
//
ID Orofaciodigital syndrome 4.
AC DI-03516
AR OFD4.
DE A form of orofaciodigital syndrome, a group of heterogeneous disorders
DE characterized by malformations of the oral cavity, face and digits,
DE and associated phenotypic abnormalities that lead to the delineation
DE of various subtypes. OFD4 patients have tongue nodules, multiple
DE frenulae, broad flat nose, hypertelorism, and short rib polydactyly
DE with tibial dysplasia (Majewski syndrome). The presence of severe
DE tibial aplasia differentiates OFD4 from OFD1. Additional features of
DE cystic dysplastic kidneys and brain malformation, including occipital
DE encephalocele, are observed in severely affected patients.
SY Baraitser-Burn syndrome.
SY Mohr-Majewski syndrome.
SY OFDS IV.
SY OFD syndrome Baraitser-Burn type.
SY OFD syndrome with tibial defects.
SY Oral-facial-digital syndrome, type IV.
SY Oral-facial-digital syndrome 4.
SY Orofaciodigital syndrome IV.
DR MIM; 258860; phenotype.
DR MedGen; C0406727.
DR MeSH; D009958.
KW KW-1186:Ciliopathy.
//
ID Orofaciodigital syndrome 5.
AC DI-03935
AR OFD5.
DE A form of orofaciodigital syndrome, a group of heterogeneous disorders
DE characterized by malformations of the oral cavity, face and digits,
DE and associated phenotypic abnormalities that lead to the delineation
DE of various subtypes. OFD5 patients show the core features of cleft
DE palate, lobulated tongue, and polydactyly. Additional features include
DE frontal bossing and intellectual disability.
SY OFDS V.
SY Oral-facial-digital syndrome, type V.
SY Oral-facial-digital syndrome 5.
SY Orofaciodigital syndrome Thurston type.
SY Orofaciodigital syndrome V.
SY Papillon-Leage and Psaume syndrome.
SY Polydactyly, postaxial, with median cleft of upper lip.
SY Thurston syndrome.
DR MIM; 174300; phenotype.
DR MedGen; C1868118.
DR MeSH; D009958.
KW KW-1186:Ciliopathy.
//
ID Orofaciodigital syndrome 6.
AC DI-04278
AR OFD6.
DE A form of orofaciodigital syndrome, a group of heterogeneous disorders
DE characterized by malformations of the oral cavity, face and digits,
DE and associated phenotypic abnormalities that lead to the delineation
DE of various subtypes. OFD6 is characterized by metacarpal abnormalities
DE with central polydactyly, cerebellar abnormalities including the molar
DE tooth sign, tongue hamartomas, additional frenula, and upper lip
DE notch.
SY OFDS VI.
SY Oral-facial-digital syndrome, type VI.
SY Oral-facial-digital syndrome 6.
SY Orofaciodigital syndrome VI.
SY Polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation.
SY Varadi-PAPP syndrome.
SY Varadi syndrome.
DR MIM; 277170; phenotype.
DR MedGen; C2745997.
DR MeSH; D009958.
KW KW-1186:Ciliopathy.
//
ID Orotic aciduria 1.
AC DI-01730
AR ORAC1.
DE A disorder of pyrimidine metabolism resulting in megaloblastic anemia
DE and orotic acid crystalluria that is frequently associated with some
DE degree of physical and intellectual disability. A minority of cases
DE have additional features, particularly congenital malformations and
DE immune deficiencies.
SY OPRT and ODC deficiency.
SY Orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency.
SY Orotic aciduria.
SY Oroticaciduria 1.
SY Orotic aciduria I.
SY Orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency.
SY UMPS deficiency.
SY UMP synthase deficiency.
SY Uridine monophosphate synthase deficiency.
DR MIM; 258900; phenotype.
DR MedGen; C0268128.
DR MedGen; C0268130.
DR MeSH; D011686.
//
ID Orthostatic hypotension 1.
AC DI-01502
AR ORTHYP1.
DE A form of orthostatic hypotension due to congenital dopamine beta-
DE hydroxylase deficiency. Orthostatic hypotension, also known as
DE postural hypotension, is a finding defined as a 20-mm Hg decrease in
DE systolic pressure or a 10-mm Hg decrease in diastolic pressure
DE occurring 3 minutes after a person has risen from supine to standing.
DE Symptoms include dizziness, blurred vision, and sometimes syncope.
DE ORTHYP1 is an autosomal recessive condition apparent from infancy or
DE early childhood and characterized by low plasma and urinary levels of
DE norepinephrine and epinephrine, and episodic hypoglycemia.
SY DBH deficiency.
SY Dopamine beta-hydroxylase deficiency.
SY Noradrenaline deficiency.
SY Norepinephrine deficiency.
DR MIM; 223360; phenotype.
DR MedGen; C0342687.
DR MeSH; D007024.
//
ID Orthostatic hypotension 2.
AC DI-05383
AR ORTHYP2.
DE An autosomal recessive disorder characterized by severe orthostatic
DE hypotension apparent from infancy or early childhood, low plasma and
DE urinary levels of norepinephrine and epinephrine, and episodic
DE hypoglycemia. Some patients may also have renal dysfunction and
DE reduced life expectancy. Orthostatic hypotension, also known as
DE postural hypotension, is a finding defined as a 20-mm Hg decrease in
DE systolic pressure or a 10-mm Hg decrease in diastolic pressure
DE occurring 3 minutes after a person has risen from supine to standing.
DE Symptoms include dizziness, blurred vision, and sometimes syncope.
DR MIM; 618182; phenotype.
DR MedGen; CN257786.
DR MeSH; D007024.
//
ID Orthostatic intolerance.
AC DI-02100
AR OI.
DE Syndrome characterized by lightheadedness, fatigue, altered mentation
DE and syncope. It is associated with postural tachycardia. Plasma
DE norepinephrine concentration is abnormally high.
DR MIM; 604715; phenotype.
DR MedGen; C0026267.
DR MedGen; C2930833.
//
ID Ossification of the posterior longitudinal ligament of the spine.
AC DI-02820
AR OPLL.
DE A calcification of the posterior longitudinal ligament of the spinal
DE column, usually at the level of the cervical spine. Patients with OPLL
DE frequently present with a severe myelopathy that can lead to
DE tetraparesis.
DR MIM; 602475; phenotype.
DR MedGen; C1865343.
DR MeSH; D017887.
//
ID Osteoarthritis 1.
AC DI-02641
AR OS1.
DE A degenerative disease of the joints characterized by degradation of
DE the hyaline articular cartilage and remodeling of the subchondral bone
DE with sclerosis. Clinical symptoms include pain and joint stiffness
DE often leading to significant disability and joint replacement.
SY OA.
SY Osteoarthritis of hip female-specific.
SY Osteoarthrosis.
DR MIM; 165720; phenotype.
DR MedGen; C0029408.
DR MeSH; D010003.
//
ID Osteoarthritis 2.
AC DI-02642
AR OS2.
DE A degenerative disease of the joints characterized by degradation of
DE the hyaline articular cartilage and remodeling of the subchondral bone
DE with sclerosis. Clinical symptoms include pain and joint stiffness
DE often leading to significant disability and joint replacement. In the
DE hand, osteoarthritis can develop in the distal interphalangeal and the
DE first carpometacarpal (base of thumb) and proximal interphalangeal
DE joints. Patients with osteoarthritis may have one, a few, or all of
DE these sites affected.
SY DIPOA.
SY Hand osteoarthritis.
SY Heberden nodes.
SY HOA.
SY OADIP.
SY Osteoarthritis of distal interphalangeal joints.
DR MIM; 140600; phenotype.
DR MedGen; C0018862.
DR MedGen; C0409957.
DR MeSH; D010003.
//
ID Osteoarthritis 3.
AC DI-02643
AR OS3.
DE A degenerative disease of the joints characterized by degradation of
DE the hyaline articular cartilage and remodeling of the subchondral bone
DE with sclerosis. Clinical symptoms include pain and joint stiffness
DE often leading to significant disability and joint replacement.
SY Osteoarthritis of knee/hip.
DR MIM; 607850; phenotype.
DR MedGen; C2675609.
DR MeSH; D010003.
//
ID Osteoarthritis 5.
AC DI-02644
AR OS5.
DE A degenerative disease of the joints characterized by degradation of
DE the hyaline articular cartilage and remodeling of the subchondral bone
DE with sclerosis. Clinical symptoms include pain and joint stiffness
DE often leading to significant disability and joint replacement.
SY Osteoarthritis of hip.
DR MIM; 612400; phenotype.
DR MedGen; C0029410.
DR MeSH; D010003.
//
ID Osteoarthritis with mild chondrodysplasia.
AC DI-02101
AR OSCDP.
DE Osteoarthritis is a common disease that produces joint pain and
DE stiffness together with radiologic evidence of progressive
DE degeneration of joint cartilage.
SY Namaqualand hip dysplasia.
SY NHD.
DR MIM; 604864; phenotype.
DR MedGen; C1858079.
DR MeSH; D010003.
DR MeSH; D010009.
//
ID Osteochondrodysplasia, brachydactyly, and overlapping malformed digits.
AC DI-05363
AR OCBMD.
DE An autosomal recessive disorder characterized by bilateral symmetric
DE skeletal defects that primarily affect the limbs. Affected individuals
DE have mild short stature due to shortening of the lower leg bones, as
DE well as hand and foot malformations, predominantly brachydactyly and
DE overlapping digits. Other skeletal defects include scoliosis,
DE dislocated patellae and fibulae, and pectus excavatum.
DR MIM; 618167; phenotype.
DR MedGen; CN257753.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type.
AC DI-04702
AR OCLSBG.
DE An autosomal recessive, lethal syndrome characterized by severe
DE hypomineralization of the entire skeleton, severe osteopenia,
DE microcephaly, multiple intra-uterine fractures, and multiple
DE congenital developmental anomalies affecting the brain, lungs, and
DE kidneys.
DR MIM; 616897; phenotype.
DR MedGen; CN235911.
DR MeSH; D010009.
KW KW-1186:Ciliopathy.
//
ID Osteofibrous dysplasia.
AC DI-04712
AR OSFD.
DE A congenital disorder of osteogenesis characterized by non-neoplastic,
DE radiolucent lesions that affect the cortical bone immediately under
DE the periosteum. It usually manifests as a painless swelling or
DE anterior bowing of the long bones, most commonly the tibia and fibula.
SY Bowing of tibia with pseudarthrosis and pectus excavatum.
SY OFD.
DR MIM; 607278; phenotype.
DR MedGen; C1709353.
DR MeSH; D001848.
//
ID Osteogenesis imperfecta 1.
AC DI-02106
AR OI1.
DE An autosomal dominant form of osteogenesis imperfecta, a connective
DE tissue disorder characterized by low bone mass, bone fragility and
DE susceptibility to fractures after minimal trauma. Disease severity
DE ranges from very mild forms without fractures to intrauterine
DE fractures and perinatal lethality. Extraskeletal manifestations, which
DE affect a variable number of patients, are dentinogenesis imperfecta,
DE hearing loss, and blue sclerae. OI1 is a non-deforming form with
DE normal height or mild short stature, and no dentinogenesis imperfecta.
SY OI, type I.
SY OI-I.
SY Osteogenesis imperfecta tarda.
SY Osteogenesis imperfecta type I.
SY Osteogenesis imperfecta with blue sclerae.
SY Osteopenic non-fracture syndrome.
DR MIM; 166200; phenotype.
DR MedGen; C0023931.
DR MedGen; C2674706.
DR MeSH; D010013.
KW KW-1065:Osteogenesis imperfecta.
//
ID Osteogenesis imperfecta 10.
AC DI-03068
AR OI10.
DE A form of osteogenesis imperfecta, a connective tissue disorder
DE characterized by low bone mass, bone fragility and susceptibility to
DE fractures after minimal trauma. Disease severity ranges from very mild
DE forms without fractures to intrauterine fractures and perinatal
DE lethality. Extraskeletal manifestations, which affect a variable
DE number of patients, are dentinogenesis imperfecta, hearing loss, and
DE blue sclerae. OI10 is an autosomal recessive form characterized by
DE multiple bone deformities and fractures, generalized osteopenia,
DE dentinogenesis imperfecta, and blue sclerae.
SY OI type X.
SY OI-X.
SY Osteogenesis imperfecta type X.
DR MIM; 613848; phenotype.
DR MedGen; C3151211.
DR MeSH; D010013.
KW KW-1065:Osteogenesis imperfecta.
//
ID Osteogenesis imperfecta 11.
AC DI-03069
AR OI11.
DE A form of osteogenesis imperfecta, a connective tissue disorder
DE characterized by low bone mass, bone fragility and susceptibility to
DE fractures after minimal trauma. Disease severity ranges from very mild
DE forms without fractures to intrauterine fractures and perinatal
DE lethality. Extraskeletal manifestations, which affect a variable
DE number of patients, are dentinogenesis imperfecta, hearing loss, and
DE blue sclerae. OI11 is an autosomal recessive form.
SY OI type XI.
SY OI-XI.
SY Osteogenesis imperfecta type XI.
DR MIM; 610968; phenotype.
DR MeSH; D010013.
KW KW-1065:Osteogenesis imperfecta.
//
ID Osteogenesis imperfecta 12.
AC DI-03173
AR OI12.
DE A form of osteogenesis imperfecta, a connective tissue disorder
DE characterized by low bone mass, bone fragility and susceptibility to
DE fractures after minimal trauma. Disease severity ranges from very mild
DE forms without fractures to intrauterine fractures and perinatal
DE lethality. Extraskeletal manifestations, which affect a variable
DE number of patients, are dentinogenesis imperfecta, hearing loss, and
DE blue sclerae. OI12 is an autosomal recessive form characterized by
DE recurrent fractures, mild bone deformations, generalized osteoporosis,
DE delayed teeth eruption, no dentinogenesis imperfecta, normal hearing,
DE and white sclerae.
SY OI type XII.
SY OI-XII.
SY Osteogenesis imperfecta Sillence type III.
SY Osteogenesis imperfecta type XII.
DR MIM; 613849; phenotype.
DR MedGen; C3151218.
DR MeSH; D010013.
KW KW-1065:Osteogenesis imperfecta.
//
ID Osteogenesis imperfecta 13.
AC DI-03557
AR OI13.
DE An autosomal recessive form of osteogenesis imperfecta, a connective
DE tissue disorder characterized by low bone mass, bone fragility and
DE susceptibility to fractures after minimal trauma. Disease severity
DE ranges from very mild forms without fractures to intrauterine
DE fractures and perinatal lethality. Extraskeletal manifestations, which
DE affect a variable number of patients, are dentinogenesis imperfecta,
DE hearing loss, and blue sclerae. OI13 is characterized by normal teeth,
DE faint blue sclerae, severe growth deficiency, borderline osteoporosis,
DE severe bone deformity, and recurrent fractures affecting both upper
DE and lower limbs.
SY OI type XIII.
SY OI-XIII.
SY Osteogenesis imperfecta type XIII.
DR MIM; 614856; phenotype.
DR MedGen; C3553887.
DR MedGen; CN158711.
DR MeSH; D010013.
KW KW-1065:Osteogenesis imperfecta.
//
ID Osteogenesis imperfecta 14.
AC DI-03686
AR OI14.
DE An autosomal recessive form of osteogenesis imperfecta, a connective
DE tissue disorder characterized by low bone mass, bone fragility and
DE susceptibility to fractures after minimal trauma. Disease severity
DE ranges from very mild forms without fractures to intrauterine
DE fractures and perinatal lethality. Extraskeletal manifestations, which
DE affect a variable number of patients, are dentinogenesis imperfecta,
DE hearing loss, and blue sclerae. OI14 is characterized by variable
DE degrees of severity of multiple fractures and osteopenia, with normal
DE teeth, sclerae, and hearing. Fractures first occur prenatally or by
DE age 6 years.
SY OI type XIV.
SY OI-XIV.
SY Osteogenesis imperfecta type XIV.
DR MIM; 615066; phenotype.
DR MedGen; C3554428.
DR MedGen; CN165469.
DR MeSH; D010013.
KW KW-1065:Osteogenesis imperfecta.
//
ID Osteogenesis imperfecta 15.
AC DI-03754
AR OI15.
DE An autosomal recessive form of osteogenesis imperfecta, a connective
DE tissue disorder characterized by low bone mass, bone fragility and
DE susceptibility to fractures after minimal trauma. Disease severity
DE ranges from very mild forms without fractures to intrauterine
DE fractures and perinatal lethality. Extraskeletal manifestations, which
DE affect a variable number of patients, are dentinogenesis imperfecta,
DE hearing loss, and blue sclerae. OI15 is characterized by early-onset
DE recurrent fractures, bone deformity, significant reduction of bone
DE density, short stature, and, in some patients, blue sclerae. Tooth
DE development and hearing are normal. Learning and developmental delays
DE and brain anomalies have been observed in some patients.
SY OI type XV.
SY OI-XV.
SY Osteogenesis imperfecta type XV.
DR MIM; 615220; phenotype.
DR MedGen; C3808844.
DR MedGen; CN169385.
DR MeSH; D010013.
KW KW-1065:Osteogenesis imperfecta.
//
ID Osteogenesis imperfecta 16.
AC DI-04377
AR OI16.
DE An autosomal recessive form of osteogenesis imperfecta, a connective
DE tissue disorder characterized by low bone mass, bone fragility and
DE susceptibility to fractures after minimal trauma. Disease severity
DE ranges from very mild forms without fractures to intrauterine
DE fractures and perinatal lethality. Extraskeletal manifestations, which
DE affect a variable number of patients, are dentinogenesis imperfecta,
DE hearing loss, and blue sclerae. OI16 is a severe form.
SY Chromosome 11p11.2 deletion syndrome, 91.3-KB.
SY OI, type XVI.
DR MIM; 616229; phenotype.
DR MedGen; CN226295.
DR MeSH; D010013.
KW KW-1065:Osteogenesis imperfecta.
//
ID Osteogenesis imperfecta 17.
AC DI-04503
AR OI17.
DE An autosomal recessive form of osteogenesis imperfecta, a connective
DE tissue disorder characterized by low bone mass, bone fragility and
DE susceptibility to fractures after minimal trauma. Disease severity
DE ranges from very mild forms without fractures to intrauterine
DE fractures and perinatal lethality. Extraskeletal manifestations, which
DE affect a variable number of patients, are dentinogenesis imperfecta,
DE hearing loss, and blue sclerae.
SY Osteogenesis imperfecta, type XVII.
DR MIM; 616507; phenotype.
DR MedGen; CN232082.
DR MeSH; D010013.
KW KW-1065:Osteogenesis imperfecta.
//
ID Osteogenesis imperfecta 18.
AC DI-05240
AR OI18.
DE An autosomal recessive form of osteogenesis imperfecta, a connective
DE tissue disorder characterized by low bone mass, bone fragility and
DE susceptibility to fractures after minimal trauma. Disease severity
DE ranges from very mild forms without fractures to intrauterine
DE fractures and perinatal lethality. Extraskeletal manifestations, which
DE affect a variable number of patients, are dentinogenesis imperfecta,
DE hearing loss, and blue sclerae. OI18 is a severe form characterized by
DE congenital bowing of the lower limb, wormian bones, blue sclerae,
DE vertebral collapses and multiple fractures in the first years of life.
SY Osteogenesis imperfecta, type XVIII.
DR MIM; 617952; phenotype.
DR MedGen; CN244563.
DR MeSH; D010013.
KW KW-1065:Osteogenesis imperfecta.
//
ID Osteogenesis imperfecta 19.
AC DI-05299
AR OI19.
DE An X-linked form of osteogenesis imperfecta, a connective tissue
DE disorder characterized by low bone mass, bone fragility and
DE susceptibility to fractures after minimal trauma. Disease severity
DE ranges from very mild forms without fractures to intrauterine
DE fractures and perinatal lethality. Extraskeletal manifestations, which
DE affect a variable number of patients, are dentinogenesis imperfecta,
DE hearing loss, and blue sclerae. OI19 is characterized by prenatal
DE fractures, short stature, white sclerae, variable scoliosis and pectal
DE deformity, striking tibial anterior angulation and generalized
DE osteopenia.
SY Osteogenesis imperfecta, type XIX.
DR MIM; 301014; phenotype.
DR MedGen; CN252653.
DR MeSH; D010013.
KW KW-1065:Osteogenesis imperfecta.
//
ID Osteogenesis imperfecta 2.
AC DI-02107
AR OI2.
DE An autosomal dominant form of osteogenesis imperfecta, a connective
DE tissue disorder characterized by low bone mass, bone fragility and
DE susceptibility to fractures after minimal trauma. Disease severity
DE ranges from very mild forms without fractures to intrauterine
DE fractures and perinatal lethality. Extraskeletal manifestations, which
DE affect a variable number of patients, are dentinogenesis imperfecta,
DE hearing loss, and blue sclerae. OI2 is characterized by bone
DE fragility, with many perinatal fractures, severe bowing of long bones,
DE undermineralization, and death in the perinatal period due to
DE respiratory insufficiency.
SY OI, type II.
SY OIC.
SY OI-II.
SY OI-IIA.
SY OI type IIA.
SY Osteogenesis imperfecta congenita.
SY Osteogenesis imperfecta congenita perinatal lethal form.
SY Osteogenesis imperfecta type IIA.
SY Osteogenesis imperfecta type II autosomal dominant.
SY Vrolik type of osteogenesis imperfecta.
DR MIM; 166210; phenotype.
DR MedGen; C0268358.
DR MedGen; C0268360.
DR MeSH; D010013.
KW KW-1065:Osteogenesis imperfecta.
//
ID Osteogenesis imperfecta 20.
AC DI-05682
AR OI20.
DE An autosomal recessive form of osteogenesis imperfecta, a connective
DE tissue disorder characterized by low bone mass, bone fragility and
DE susceptibility to fractures after minimal trauma. Disease severity
DE ranges from very mild forms without fractures to intrauterine
DE fractures and perinatal lethality. Extraskeletal manifestations, which
DE affect a variable number of patients, are dentinogenesis imperfecta,
DE hearing loss, and blue sclerae. OI20 is a progressive deforming form
DE characterized by osteopenia, skeletal deformity, healed fractures, and
DE newly-acquired fractures. Death due to respiratory failure can occur
DE in some patients.
SY Osteogenesis imperfecta, type XX.
DR MIM; 618644; phenotype.
DR MedGen; CN262534.
DR MeSH; D010013.
KW KW-1065:Osteogenesis imperfecta.
//
ID Osteogenesis imperfecta 21.
AC DI-05995
AR OI21.
DE An autosomal recessive form of osteogenesis imperfecta, a connective
DE tissue disorder characterized by low bone mass, bone fragility and
DE susceptibility to fractures after minimal trauma. Disease severity
DE ranges from very mild forms without fractures to intrauterine
DE fractures and perinatal lethality. Extraskeletal manifestations, which
DE affect a variable number of patients, are dentinogenesis imperfecta,
DE hearing loss, and blue sclerae. OI21 is a progressively deforming form
DE characterized by multiple fractures appearing at birth or early
DE childhood.
SY Osteogenesis imperfecta, type XXI.
DR MIM; 619131; phenotype.
DR MedGen; CN293593.
DR MeSH; D010013.
KW KW-1065:Osteogenesis imperfecta.
//
ID Osteogenesis imperfecta 22.
AC DI-06367
AR OI22.
DE An autosomal recessive form of osteogenesis imperfecta, a connective
DE tissue disorder characterized by low bone mass, bone fragility and
DE susceptibility to fractures after minimal trauma. Disease severity
DE ranges from very mild forms without fractures to intrauterine
DE fractures and perinatal lethality. Extraskeletal manifestations, which
DE affect a variable number of patients, are dentinogenesis imperfecta,
DE hearing loss, and blue sclerae. OI22 is a severe form of the disease.
SY Osteogenesis imperfecta, type XXII.
DR MIM; 619795; phenotype.
DR MedGen; CN307041.
DR MeSH; D010013.
KW KW-1065:Osteogenesis imperfecta.
//
ID Osteogenesis imperfecta 3.
AC DI-02108
AR OI3.
DE An autosomal dominant form of osteogenesis imperfecta, a connective
DE tissue disorder characterized by low bone mass, bone fragility and
DE susceptibility to fractures after minimal trauma. Disease severity
DE ranges from very mild forms without fractures to intrauterine
DE fractures and perinatal lethality. Extraskeletal manifestations, which
DE affect a variable number of patients, are dentinogenesis imperfecta,
DE hearing loss, and blue sclerae. OI3 is characterized by progressively
DE deforming bones, very short stature, a triangular face, severe
DE scoliosis, grayish sclera and dentinogenesis imperfecta.
SY OI, type III.
SY OI-III.
SY Osteogenesis imperfecta type III.
SY Progressively deforming osteogenesis imperfecta with normal sclerae.
DR MIM; 259420; phenotype.
DR MedGen; C0268362.
DR MeSH; D010013.
KW KW-0242:Dwarfism.
KW KW-1065:Osteogenesis imperfecta.
//
ID Osteogenesis imperfecta 4.
AC DI-02103
AR OI4.
DE An autosomal dominant form of osteogenesis imperfecta, a connective
DE tissue disorder characterized by low bone mass, bone fragility and
DE susceptibility to fractures after minimal trauma. Disease severity
DE ranges from very mild forms without fractures to intrauterine
DE fractures and perinatal lethality. Extraskeletal manifestations, which
DE affect a variable number of patients, are dentinogenesis imperfecta,
DE hearing loss, and blue sclerae. OI4 is characterized by moderately
DE short stature, mild to moderate scoliosis, grayish or white sclera and
DE dentinogenesis imperfecta.
SY OI, type IV.
SY OI-IV.
SY Osteogenesis imperfecta type IV.
SY Osteogenesis imperfecta with normal sclerae.
DR MIM; 166220; phenotype.
DR MedGen; C0268363.
DR MeSH; D010013.
KW KW-0242:Dwarfism.
KW KW-1065:Osteogenesis imperfecta.
//
ID Osteogenesis imperfecta 5.
AC DI-03563
AR OI5.
DE An autosomal dominant form of osteogenesis imperfecta, a connective
DE tissue disorder characterized by low bone mass, bone fragility and
DE susceptibility to fractures after minimal trauma. Disease severity
DE ranges from very mild forms without fractures to intrauterine
DE fractures and perinatal lethality. Extraskeletal manifestations, which
DE affect a variable number of patients, are dentinogenesis imperfecta,
DE hearing loss, and blue sclerae. OI5 patients manifest moderate to
DE severe bone fragility, calcification of the forearm interosseous
DE membrane, radial head dislocation, a subphyseal metaphyseal radiodense
DE line, and hyperplastic callus formation.
SY OI type V.
SY OI-V.
SY Osteogenesis imperfecta type V.
DR MIM; 610967; phenotype.
DR MedGen; C1970414.
DR MeSH; D010013.
KW KW-1065:Osteogenesis imperfecta.
//
ID Osteogenesis imperfecta 6.
AC DI-02725
AR OI6.
DE A form of osteogenesis imperfecta, a connective tissue disorder
DE characterized by low bone mass, bone fragility and susceptibility to
DE fractures after minimal trauma. Disease severity ranges from very mild
DE forms without fractures to intrauterine fractures and perinatal
DE lethality. Extraskeletal manifestations, which affect a variable
DE number of patients, are dentinogenesis imperfecta, hearing loss, and
DE blue sclerae. OI6 is a severe, autosomal recessive form compatible
DE with OI type III in the Sillence classification.
SY OI type VI.
SY OI-VI.
SY Osteogenesis imperfecta type VI.
DR MIM; 613982; phenotype.
DR MedGen; C3279564.
DR MeSH; D010013.
KW KW-0242:Dwarfism.
KW KW-1065:Osteogenesis imperfecta.
//
ID Osteogenesis imperfecta 7.
AC DI-02104
AR OI7.
DE A form of osteogenesis imperfecta, a connective tissue disorder
DE characterized by low bone mass, bone fragility and susceptibility to
DE fractures after minimal trauma. Disease severity ranges from very mild
DE forms without fractures to intrauterine fractures and perinatal
DE lethality. Extraskeletal manifestations, which affect a variable
DE number of patients, are dentinogenesis imperfecta, hearing loss, and
DE blue sclerae. OI7 is an autosomal recessive, severe form. Multiple
DE fractures are present at birth and patients have short stature, short
DE humeri and femora, coxa vara, and white sclera. Dentinogenesis
DE imperfecta is absent. Death can occur in the perinatal period due to
DE secondary respiratory insufficiency.
SY OI2B.
SY OI-IIB.
SY OI type IIB.
SY OI type VII.
SY OI-VII.
SY Osteogenesis imperfecta perinatal lethal autosomal recessive.
SY Osteogenesis imperfecta type II autosomal recessive.
SY Osteogenesis imperfecta type IIB.
SY Osteogenesis imperfecta type VII.
DR MIM; 610682; phenotype.
DR MedGen; C1853162.
DR MeSH; D010013.
KW KW-0242:Dwarfism.
KW KW-1065:Osteogenesis imperfecta.
//
ID Osteogenesis imperfecta 8.
AC DI-02105
AR OI8.
DE A form of osteogenesis imperfecta, a connective tissue disorder
DE characterized by low bone mass, bone fragility and susceptibility to
DE fractures after minimal trauma. Disease severity ranges from very mild
DE forms without fractures to intrauterine fractures and perinatal
DE lethality. Extraskeletal manifestations, which affect a variable
DE number of patients, are dentinogenesis imperfecta, hearing loss, and
DE blue sclerae. OI8 is characterized by disproportionate short stature,
DE severe osteoporosis, shortening of the long bones, white sclerae, a
DE round face and a short barrel-shaped chest.
SY OI type VIII.
SY OI-VIII.
SY Osteogenesis imperfecta type VIII.
DR MIM; 610915; phenotype.
DR MedGen; C1970458.
DR MeSH; D010013.
KW KW-0242:Dwarfism.
KW KW-1065:Osteogenesis imperfecta.
//
ID Osteogenesis imperfecta 9.
AC DI-02542
AR OI9.
DE A form of osteogenesis imperfecta, a connective tissue disorder
DE characterized by low bone mass, bone fragility and susceptibility to
DE fractures after minimal trauma. Disease severity ranges from very mild
DE forms without fractures to intrauterine fractures and perinatal
DE lethality. Extraskeletal manifestations, which affect a variable
DE number of patients, are dentinogenesis imperfecta, hearing loss, and
DE blue sclerae. OI9 is a severe autosomal recessive form of the
DE disorder.
SY OI-IX.
SY OI type IX.
SY Osteogenesis imperfecta Sillence type II/III without abnormality of type I collagen.
SY Osteogenesis imperfecta type IX.
DR MIM; 259440; phenotype.
DR MedGen; C1850169.
DR MeSH; D010013.
KW KW-0242:Dwarfism.
KW KW-1065:Osteogenesis imperfecta.
//
ID Osteogenic sarcoma.
AC DI-02109
AR OSRC.
DE A sarcoma originating in bone-forming cells, affecting the ends of
DE long bones.
SY Osteosarcoma.
DR MIM; 259500; phenotype.
DR MedGen; C0029463.
DR MeSH; D012516.
//
ID Osteoglophonic dysplasia.
AC DI-02110
AR OGD.
DE Characterized by craniosynostosis, prominent supraorbital ridge, and
DE depressed nasal bridge, as well as by rhizomelic dwarfism and
DE nonossifying bone lesions. Inheritance is autosomal dominant.
SY Osteoglophonic dwarfism.
DR MIM; 166250; phenotype.
DR MedGen; C0432283.
//
ID Osteootohepatoenteric syndrome.
AC DI-06143
AR OOHE.
DE An autosomal recessive disorder characterized by cholestasis,
DE congenital diarrhea, impaired hearing, and bone fragility. Some
DE patients also display mild developmental delay and intellectual
DE disability.
DR MIM; 619377; phenotype.
DR MedGen; CN297086.
DR MeSH; D001847.
DR MeSH; D004066.
DR MeSH; D034381.
KW KW-0209:Deafness.
//
ID Osteopathia striata with cranial sclerosis.
AC DI-02547
AR OSCS.
DE An X-linked dominant sclerosing bone dysplasia that presents in
DE females with macrocephaly, cleft palate, facial palsy, conductive
DE hearing loss, mild learning disabilities, sclerosis of the long bones
DE and skull. Longitudinal striations are visible on radiographs of the
DE long bones, pelvis, and scapulae (osteopathia striata). In males this
DE entity is usually associated with fetal or neonatal lethality.
DE Occasional surviving males have, in addition to hyperostosis, cardiac,
DE intestinal, and genitourinary malformations.
SY Hyperostosis generalisata with striations.
SY Robinow-Unger syndrome.
DR MIM; 300373; phenotype.
DR MedGen; C0432268.
DR MeSH; D010009.
//
ID Osteopetrosis, autosomal dominant 1.
AC DI-00884
AR OPTA1.
DE A rare genetic disease characterized by abnormally dense bone, due to
DE defective resorption of immature bone. Osteopetrosis occurs in two
DE forms: a severe autosomal recessive form occurring in utero, infancy,
DE or childhood, and a benign autosomal dominant form occurring in
DE adolescence or adulthood. OPTA1 is an autosomal dominant form
DE characterized by generalized osteosclerosis most pronounced in the
DE cranial vault. Patients are often asymptomatic, but some suffer from
DE pain and hearing loss. It appears to be the only type of osteopetrosis
DE not associated with an increased fracture rate.
DR MIM; 607634; phenotype.
DR MedGen; C1843330.
DR MeSH; D010022.
KW KW-0987:Osteopetrosis.
//
ID Osteopetrosis, autosomal dominant 2.
AC DI-00885
AR OPTA2.
DE A rare genetic disease characterized by abnormally dense bone, due to
DE defective resorption of immature bone. Osteopetrosis occurs in two
DE forms: a severe autosomal recessive form occurring in utero, infancy,
DE or childhood, and a benign autosomal dominant form occurring in
DE adolescence or adulthood. OPTA2 is the most common form of
DE osteopetrosis, occurring in adolescence or adulthood. It is
DE characterized by sclerosis, predominantly involving the spine, the
DE pelvis and the skull base.
SY Autosomal dominant Albers-Schonberg disease.
SY Marble disease autosomal dominant.
DR MIM; 166600; phenotype.
DR MedGen; C1833700.
DR MedGen; C3179239.
DR MeSH; D010022.
KW KW-0987:Osteopetrosis.
//
ID Osteopetrosis, autosomal dominant 3.
AC DI-05323
AR OPTA3.
DE A form of osteopetrosis, a rare genetic disease characterized by
DE abnormally dense bone, due to defective resorption of immature bone.
DE Osteopetrosis occurs in two forms: a severe autosomal recessive form
DE occurring in utero, infancy, or childhood, and an autosomal dominant
DE form occurring in adolescence or adulthood. OPTA3 is characterized by
DE typical features of osteopetrosis such as fractures after minor
DE trauma, early tooth loss, anemia, hepatosplenomegaly, and a
DE generalized increase in bone mineral density. Some patients exhibit
DE localized osteosclerosis and generalized osteopenia.
DR MIM; 618107; phenotype.
DR MedGen; CN253817.
DR MeSH; D010022.
KW KW-0987:Osteopetrosis.
//
ID Osteopetrosis, autosomal recessive 1.
AC DI-00886
AR OPTB1.
DE A rare genetic disease characterized by abnormally dense bone, due to
DE defective resorption of immature bone. Osteopetrosis occurs in two
DE forms: a severe autosomal recessive form occurring in utero, infancy,
DE or childhood, and a benign autosomal dominant form occurring in
DE adolescence or adulthood. Recessive osteopetrosis commonly manifests
DE in early infancy with macrocephaly, feeding difficulties, evolving
DE blindness and deafness, bone marrow failure, severe anemia, and
DE hepatosplenomegaly. Deafness and blindness are generally thought to
DE represent effects of pressure on nerves.
SY Autosomal recessive Albers-Schonberg disease.
SY Infantile malignant osteopetrosis.
DR MIM; 259700; phenotype.
DR MedGen; C1850127.
DR MeSH; D010022.
KW KW-0987:Osteopetrosis.
//
ID Osteopetrosis, autosomal recessive 2.
AC DI-00887
AR OPTB2.
DE A rare genetic disease characterized by abnormally dense bone, due to
DE defective resorption of immature bone. Osteopetrosis occurs in two
DE forms: a severe autosomal recessive form occurring in utero, infancy,
DE or childhood, and a benign autosomal dominant form occurring in
DE adolescence or adulthood. Recessive osteopetrosis commonly manifests
DE in early infancy with macrocephaly, feeding difficulties, evolving
DE blindness and deafness, bone marrow failure, severe anemia, and
DE hepatosplenomegaly. Deafness and blindness are generally thought to
DE represent effects of pressure on nerves. OPTB2 is characterized by
DE paucity of osteoclasts, suggesting a molecular defect in osteoclast
DE development.
SY Osteoclast-poor osteopetrosis.
DR MIM; 259710; phenotype.
DR MedGen; C1850126.
DR MeSH; D010022.
KW KW-0987:Osteopetrosis.
//
ID Osteopetrosis, autosomal recessive 3.
AC DI-01252
AR OPTB3.
DE A rare genetic disease characterized by abnormally dense bone, due to
DE defective resorption of immature bone. Osteopetrosis occurs in two
DE forms: a severe autosomal recessive form occurring in utero, infancy,
DE or childhood, and a benign autosomal dominant form occurring in
DE adolescence or adulthood. Recessive osteopetrosis commonly manifests
DE in early infancy with macrocephaly, feeding difficulties, evolving
DE blindness and deafness, bone marrow failure, severe anemia, and
DE hepatosplenomegaly. Deafness and blindness are generally thought to
DE represent effects of pressure on nerves. OPTB3 is associated with
DE renal tubular acidosis, cerebral calcification (marble brain disease)
DE and in some cases with intellectual disability.
SY Carbonic anhydrase II deficiency syndrome.
SY Guibaud-Vainsel syndrome.
SY Marble brain disease.
SY Osteopetrosis with renal tubular acidosis.
DR MIM; 259730; phenotype.
DR MedGen; C0345407.
DR MeSH; D000141.
DR MeSH; D010022.
KW KW-0987:Osteopetrosis.
//
ID Osteopetrosis, autosomal recessive 4.
AC DI-00888
AR OPTB4.
DE A rare genetic disease characterized by abnormally dense bone, due to
DE defective resorption of immature bone. Osteopetrosis occurs in two
DE forms: a severe autosomal recessive form occurring in utero, infancy,
DE or childhood, and a benign autosomal dominant form occurring in
DE adolescence or adulthood. Recessive osteopetrosis commonly manifests
DE in early infancy with macrocephaly, feeding difficulties, evolving
DE blindness and deafness, bone marrow failure, severe anemia, and
DE hepatosplenomegaly. Deafness and blindness are generally thought to
DE represent effects of pressure on nerves.
SY Infantile malignant osteopetrosis 2.
DR MIM; 611490; phenotype.
DR MedGen; C1969106.
DR MeSH; D010022.
KW KW-0987:Osteopetrosis.
//
ID Osteopetrosis, autosomal recessive 5.
AC DI-00889
AR OPTB5.
DE A rare genetic disease characterized by abnormally dense bone, due to
DE defective resorption of immature bone. Osteopetrosis occurs in two
DE forms: a severe autosomal recessive form occurring in utero, infancy,
DE or childhood, and a benign autosomal dominant form occurring in
DE adolescence or adulthood. Recessive osteopetrosis commonly manifests
DE in early infancy with macrocephaly, feeding difficulties, evolving
DE blindness and deafness, bone marrow failure, severe anemia, and
DE hepatosplenomegaly. Deafness and blindness are generally thought to
DE represent effects of pressure on nerves. OPTB5 patients manifest
DE primary central nervous system involvement in addition to the
DE classical stigmata of severe bone sclerosis, growth failure, anemia,
DE thrombocytopenia and visual impairment with optic atrophy.
SY Infantile malignant osteopetrosis 3.
DR MIM; 259720; phenotype.
DR MedGen; C1968603.
DR MeSH; D010022.
KW KW-0987:Osteopetrosis.
//
ID Osteopetrosis, autosomal recessive 6.
AC DI-01253
AR OPTB6.
DE A rare genetic disease characterized by abnormally dense bone, due to
DE defective resorption of immature bone. Osteopetrosis occurs in two
DE forms: a severe autosomal recessive form occurring in utero, infancy,
DE or childhood, and a benign autosomal dominant form occurring in
DE adolescence or adulthood. Recessive osteopetrosis commonly manifests
DE in early infancy with macrocephaly, feeding difficulties, evolving
DE blindness and deafness, bone marrow failure, severe anemia, and
DE hepatosplenomegaly. Deafness and blindness are generally thought to
DE represent effects of pressure on nerves.
SY Autosomal recessive osteopetrosis intermediate form.
DR MIM; 611497; phenotype.
DR MedGen; C1969093.
DR MeSH; D010022.
KW KW-0987:Osteopetrosis.
//
ID Osteopetrosis, autosomal recessive 7.
AC DI-00890
AR OPTB7.
DE A rare genetic disease characterized by abnormally dense bone, due to
DE defective resorption of immature bone. Osteopetrosis occurs in two
DE forms: a severe autosomal recessive form occurring in utero, infancy,
DE or childhood, and a benign autosomal dominant form occurring in
DE adolescence or adulthood. Recessive osteopetrosis commonly manifests
DE in early infancy with macrocephaly, feeding difficulties, evolving
DE blindness and deafness, bone marrow failure, severe anemia, and
DE hepatosplenomegaly. Deafness and blindness are generally thought to
DE represent effects of pressure on nerves. OPTB7 is characterized by
DE paucity of osteoclasts, suggesting a molecular defect in osteoclast
DE development. OPTB7 is associated with hypogammaglobulinemia.
SY Osteoclast-poor osteopetrosis with hypogammaglobulinemia.
DR MIM; 612301; phenotype.
DR MedGen; C2676766.
DR MeSH; D010022.
KW KW-0987:Osteopetrosis.
//
ID Osteopetrosis, autosomal recessive 8.
AC DI-03656
AR OPTB8.
DE A rare genetic disease characterized by abnormally dense bone, due to
DE defective resorption of immature bone. Osteopetrosis occurs in two
DE forms: a severe autosomal recessive form occurring in utero, infancy,
DE or childhood, and a benign autosomal dominant form occurring in
DE adolescence or adulthood. Recessive osteopetrosis commonly manifests
DE in early infancy with macrocephaly, feeding difficulties, evolving
DE blindness and deafness, bone marrow failure, severe anemia, and
DE hepatosplenomegaly. Deafness and blindness are generally thought to
DE represent effects of pressure on nerves. OPTB8 is clinically
DE characterized by dense bones with no distinction between outer and
DE inner plates, due to extensive encroachment of cortical bone into the
DE medullary space, increased head circumference, broad open fontanelle,
DE frontal bossing, and hepatosplenomegaly. Osteoclasts number is low and
DE their bone resorptive capacity is impaired.
DR MIM; 615085; phenotype.
DR MedGen; C3554478.
DR MedGen; CN165701.
DR MeSH; D010022.
KW KW-0987:Osteopetrosis.
//
ID Osteoporosis.
AC DI-02659
AR OSTEOP.
DE A systemic skeletal disorder characterized by decreased bone mass and
DE deterioration of bone microarchitecture without alteration in the
DE composition of bone. The result is fragile bones and an increased risk
DE of fractures, even after minimal trauma. Osteoporosis is a chronic
DE condition of multifactorial etiology and is usually clinically silent
DE until a fracture occurs.
SY Involutional osteoporosis.
SY Postmenopausal osteoporosis.
SY Senile osteoporosis.
DR MIM; 166710; phenotype.
DR MedGen; C0029456.
DR MedGen; C0029458.
DR MedGen; C0029459.
DR MedGen; C2674640.
DR MeSH; D010024.
//
ID Osteoporosis-pseudoglioma syndrome.
AC DI-02111
AR OPPG.
DE A disease characterized by congenital or infancy-onset blindness and
DE severe juvenile-onset osteoporosis and spontaneous fractures.
DE Additional clinical manifestations may include microphthalmos,
DE abnormalities of the iris, lens or vitreous, cataracts, short stature,
DE microcephaly, ligamental laxity, intellectual disability and
DE hypotonia.
SY OPS.
SY Osteogenesis imperfecta ocular form.
DR MIM; 259770; phenotype.
DR MedGen; C0432252.
DR MeSH; D010013.
KW KW-1065:Osteogenesis imperfecta.
//
ID Osteosclerotic metaphyseal dysplasia.
AC DI-06297
AR OSMD.
DE An autosomal recessive skeletal dysplasia characterized by
DE osteosclerosis at multiple skeletal sites, predominantly at the
DE metaphyses of the long bones and vertebral bodies.
DR MIM; 615198; phenotype.
DR MedGen; C3554665.
DR MeSH; D010026.
//
ID Otitis media.
AC DI-05294
AR OM.
DE An inflammation of the middle ear resulting in earache, fever, hearing
DE disturbance, and vertigo.
SY COME/ROM.
SY OMS.
SY Otitis media, chronic/recurrent.
DR MIM; 166760; phenotype.
DR MedGen; C1833692.
DR MeSH; D010033.
//
ID Otofaciocervical syndrome 1.
AC DI-02112
AR OTFCS1.
DE A disorder characterized by facial dysmorphism, cup-shaped low-set
DE ears, preauricular fistulas, hearing loss, branchial defects, skeletal
DE anomalies including vertebral defects, low-set clavicles, winged
DE scapulae, sloping shoulders, and mild intellectual disability.
SY OFC.
SY OFC1.
SY OTFCS.
SY Oto-facio-cervical syndrome.
DR MIM; 166780; phenotype.
DR MedGen; C1833691.
DR MeSH; D000015.
KW KW-0209:Deafness.
KW KW-0991:Intellectual disability.
//
ID Otofaciocervical syndrome 2, with T-cell deficiency.
AC DI-03986
AR OTFCS2.
DE An autosomal recessive disorder characterized by facial dysmorphism,
DE cup-shaped low-set ears, preauricular fistulas, hearing loss,
DE branchial defects, skeletal anomalies including vertebral defects,
DE low-set clavicles, winged scapulae, sloping shoulders, and mild
DE intellectual disability. Some patients also exhibit altered thymus
DE development with T-cell immunodeficiency.
SY OFC2.
DR MIM; 615560; phenotype.
DR MedGen; C3714942.
DR MedGen; CN182251.
DR MeSH; D000015.
KW KW-0209:Deafness.
KW KW-0991:Intellectual disability.
//
ID Otopalatodigital syndrome 1.
AC DI-02113
AR OPD1.
DE X-linked dominant multiple congenital anomalies disease mainly
DE characterized by a generalized skeletal dysplasia, mild intellectual
DE disability, hearing loss, cleft palate, and typical facial anomalies.
DE OPD1 belongs to a group of X-linked skeletal dysplasias known as oto-
DE palato-digital syndrome spectrum disorders that also include OPD2,
DE Melnick-Needles syndrome (MNS), and frontometaphyseal dysplasia (FMD).
DE Remodeling of the cytoskeleton is central to the modulation of cell
DE shape and migration. FLNA is a widely expressed protein that regulates
DE re-organization of the actin cytoskeleton by interacting with
DE integrins, transmembrane receptor complexes and second messengers.
DE Males with OPD1 have cleft palate, malformations of the ossicles
DE causing deafness and milder bone and limb defects than those
DE associated with OPD2. Obligate female carriers of mutations causing
DE both OPD1 and OPD2 have variable (often milder) expression of a
DE similar phenotypic spectrum.
DR MIM; 311300; phenotype.
DR MedGen; C0265251.
DR MedGen; C2748918.
DR MedGen; C2748919.
//
ID Otopalatodigital syndrome 2.
AC DI-02114
AR OPD2.
DE Congenital bone disorder that is characterized by abnormally modeled,
DE bowed bones, small or absent first digits and, more variably, cleft
DE palate, posterior fossa brain anomalies, omphalocele and cardiac
DE defects.
SY Cranioorodigital syndrome.
DR MIM; 304120; phenotype.
DR MedGen; C1844696.
//
ID Otospondylomegaepiphyseal dysplasia, autosomal dominant.
AC DI-01093
AR OSMEDA.
DE An autosomal dominant form of otospondylomegaepiphyseal dysplasia, a
DE disorder characterized by sensorineural deafness, enlarged epiphyses,
DE mild platyspondyly, and disproportionate shortness of the limbs. Total
DE body length is normal. Typical facial features are mid-face
DE hypoplasia, short upturned nose and depressed nasal bridge. Most
DE patients have Pierre Robin sequence including an opening in the roof
DE of the mouth (cleft palate) and a small lower jaw (micrognathia).
DE Ocular symptoms are absent. Some patients have early-onset
DE osteoarthritis.
SY Heterozygous OSMED.
SY Pierre Robin syndrome with fetal chondrodysplasia.
SY Stickler-like syndrome.
SY Stickler syndrome 3.
SY Stickler syndrome non-ocular type.
SY Stickler syndrome type III.
SY STL3.
SY Weissenbacher-Zweymueller syndrome.
SY WZS.
DR MIM; 184840; phenotype.
DR MedGen; C1848488.
DR MedGen; C1861481.
DR MeSH; D003240.
KW KW-0209:Deafness.
KW KW-0757:Stickler syndrome.
//
ID Otospondylomegaepiphyseal dysplasia, autosomal recessive.
AC DI-01254
AR OSMEDB.
DE An autosomal recessive form of otospondylomegaepiphyseal dysplasia, a
DE disorder characterized by sensorineural deafness, enlarged epiphyses,
DE mild platyspondyly, and disproportionate shortness of the limbs. Total
DE body length is normal. Typical facial features are mid-face
DE hypoplasia, short upturned nose and depressed nasal bridge. Most
DE patients have Pierre Robin sequence including an opening in the roof
DE of the mouth (cleft palate) and a small lower jaw (micrognathia).
DE Ocular symptoms are absent. Some patients have early-onset
DE osteoarthritis.
SY Chondrodystrophy with sensorineural deafness.
SY Insley-Astley syndrome.
SY Nance-Insley syndrome.
SY Nance-Sweeney chondrodysplasia.
SY OSMED.
DR MIM; 215150; phenotype.
DR MedGen; C0432210.
DR MedGen; C1855310.
DR MeSH; D010009.
//
ID Ovalocytosis, Southeast Asian.
AC DI-00448
AR SAO.
DE A hereditary hematologic disorder characterized by ovalocytic
DE erythrocytes that are rigid and exhibit reduced expression of many
DE erythrocyte antigens. Clinical manifestations include mild hemolysis,
DE intermittent jaundice and gallstones. However, the disorder is most
DE often asymptomatic.
SY EL4.
SY Elliptocytosis, stomatocytic hereditary.
SY Elliptocytosis 4.
SY HE, stomatocytic.
SY Ovalocytosis, Malaysian-Melanesian-Filipino type.
SY Ovalocytosis, SA type.
DR MIM; 166900; phenotype.
DR MedGen; C1833690.
DR MedGen; C1862322.
DR MedGen; C1862324.
DR MedGen; C1862326.
DR MeSH; D004612.
KW KW-0250:Elliptocytosis.
//
ID Ovarian cancer.
AC DI-01655
AR OC.
DE The term ovarian cancer defines malignancies originating from ovarian
DE tissue. Although many histologic types of ovarian tumors have been
DE described, epithelial ovarian carcinoma is the most common form.
DE Ovarian cancers are often asymptomatic and the recognized signs and
DE symptoms, even of late-stage disease, are vague. Consequently, most
DE patients are diagnosed with advanced disease.
SY Epithelial ovarian cancer.
DR MIM; 167000; phenotype.
DR MedGen; C0677886.
DR MedGen; C1140680.
DR MeSH; D010051.
//
ID Ovarian dysgenesis 1.
AC DI-02115
AR ODG1.
DE An autosomal recessive disease characterized by primary amenorrhea,
DE variable development of secondary sex characteristics, poorly
DE developed streak ovaries, and high serum levels of follicle-
DE stimulating hormone (FSH) and luteinizing hormone (LH).
SY Gonadal dysgenesis XX type.
SY Hypergonadotropic ovarian dysgenesis autosomal recessive.
SY Hypergonadotropic ovarian dysgenesis with normal karyotype.
SY Hypergonadotropic ovarian failure.
SY XXGD.
SY XX gonadal dysgenesis.
DR MIM; 233300; phenotype.
DR MedGen; C0949595.
DR MedGen; CN074196.
DR MeSH; D023961.
//
ID Ovarian dysgenesis 2.
AC DI-02116
AR ODG2.
DE A disorder characterized by lack of spontaneous pubertal development,
DE primary amenorrhea, uterine hypoplasia, and hypergonadotropic
DE hypogonadism as a result of streak gonads.
SY Ovarian failure hypergonadotropic due to ovarian dysgenesis.
SY X-linked hypergonadotropic ovarian dysgenesis.
DR MIM; 300510; phenotype.
DR MedGen; C1845294.
DR MeSH; D023961.
//
ID Ovarian dysgenesis 3.
AC DI-03287
AR ODG3.
DE A disorder characterized by lack of spontaneous pubertal development,
DE primary amenorrhea, uterine hypoplasia, and hypergonadotropic
DE hypogonadism as a result of streak gonads.
DR MIM; 614324; phenotype.
DR MedGen; C3280471.
DR MeSH; D023961.
//
ID Ovarian dysgenesis 4.
AC DI-04296
AR ODG4.
DE A form of ovarian dysgenesis, a disorder characterized by lack of
DE spontaneous pubertal development, primary amenorrhea, uterine
DE hypoplasia, and hypergonadotropic hypogonadism as a result of streak
DE gonads. ODG4 is an autosomal recessive condition.
DR MIM; 616185; phenotype.
DR MedGen; CN225030.
DR MeSH; D023961.
//
ID Ovarian dysgenesis 5.
AC DI-05092
AR ODG5.
DE A disorder characterized by lack of spontaneous pubertal development,
DE primary amenorrhea, uterine hypoplasia, and hypergonadotropic
DE hypogonadism as a result of streak gonads. ODG5 is an autosomal
DE recessive condition.
DR MIM; 617690; phenotype.
DR MedGen; CN492436.
DR MeSH; D023961.
//
ID Ovarian dysgenesis 6.
AC DI-05300
AR ODG6.
DE A form of ovarian dysgenesis, a disorder characterized by lack of
DE spontaneous pubertal development, primary amenorrhea, uterine
DE hypoplasia, and hypergonadotropic hypogonadism as a result of streak
DE gonads. ODG6 is an autosomal recessive condition.
DR MIM; 618078; phenotype.
DR MedGen; CN252687.
DR MeSH; D023961.
//
ID Ovarian dysgenesis 7.
AC DI-05334
AR ODG7.
DE A form of ovarian dysgenesis, a disorder characterized by lack of
DE spontaneous pubertal development, primary amenorrhea, uterine
DE hypoplasia, and hypergonadotropic hypogonadism as a result of streak
DE gonads. ODG7 is an autosomal recessive condition.
DR MIM; 618117; phenotype.
DR MedGen; CN253833.
DR MeSH; D023961.
//
ID Ovarian dysgenesis 8.
AC DI-05386
AR ODG8.
DE An autosomal dominant form of ovarian dysgenesis, a disorder
DE characterized by lack of spontaneous pubertal development, primary
DE amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as
DE a result of streak gonads.
DR MIM; 618187; phenotype.
DR MedGen; CN257790.
DR MeSH; D023961.
//
ID Ovarian dysgenesis 9.
AC DI-06295
AR ODG9.
DE An autosomal recessive form of ovarian dysgenesis, a disorder
DE characterized by lack of spontaneous pubertal development, primary
DE amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as
DE a result of streak gonads.
DR MIM; 619665; phenotype.
DR MedGen; CN305248.
DR MeSH; D023961.
//
ID Ovarian hyperstimulation syndrome.
AC DI-02117
AR OHSS.
DE Disorder which occurs either spontaneously or most often as an
DE iatrogenic complication of ovarian stimulation treatments for in vitro
DE fertilization. The clinical manifestations vary from abdominal
DE distention and discomfort to potentially life-threatening, massive
DE ovarian enlargement and capillary leak with fluid sequestration.
DE Pathologic features of this syndrome include the presence of multiple
DE serous and hemorrhagic follicular cysts lined by luteinized cells, a
DE condition called hyperreactio luteinalis.
DR MIM; 608115; phenotype.
DR MedGen; C0085083.
//
ID Overhydrated hereditary stomatocytosis.
AC DI-04608
AR OHST.
DE An autosomal dominant disorder of red cell membrane permeability to
DE monovalent cations, characterized by macrocytic hemolytic anemia of
DE fluctuating severity, circulating erythrocytes with slit-like
DE lucencies (stomata) evident on fixed, stained peripheral blood smears.
DE OHST red cells exhibit cation leak, resulting in elevated cell sodium
DE content with reduced potassium content. The disease is marked by
DE splenomegaly or hepatosplenomegaly, cholelithiasis and a strong
DE tendency for iron overload.
SY Hereditary, overhydrated, cation-leak stomatocytosis.
SY OHS.
SY Overhydrated cation leak stomatocytosis.
SY Potassium sodium disorder of erythrocyte.
DR MIM; 185000; phenotype.
DR MedGen; C1861455.
DR MeSH; D000745.
KW KW-0360:Hereditary hemolytic anemia.
//
ID Overlap connective tissue disease.
AC DI-01941
AR OCTD.
DE Heritable disorder of connective tissue characterized by involvement
DE of the mitral valve, aorta, skeleton, and skin. MASS syndrome is
DE closely resembling both the Marfan syndrome and the Barlow syndrome.
DE However, no dislocation of the lenses or aneurysmal changes occur in
DE the aorta, and the mitral valve prolapse is by no means invariable.
SY MASS syndrome.
DR MIM; 604308; phenotype.
DR MedGen; C1858556.
//
ID P5N deficiency.
AC DI-02118
AR P5ND.
DE Autosomal recessive condition causing hemolytic anemia characterized
DE by marked basophilic stippling and the accumulation of high
DE concentrations of pyrimidine nucleotides within the erythrocyte. It is
DE implicated in the anemia of lead poisoning and is possibly associated
DE with learning difficulties.
SY Hemolytic anemia due to P5N deficiency.
SY Hemolytic anemia due to UMPH1 deficiency.
DR MIM; 266120; phenotype.
DR MedGen; C1849507.
//
ID Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures.
AC DI-05737
AR PAMDDFS.
DE An autosomal recessive disorder characterized by global developmental
DE delay, variably impaired intellectual development, speech delay,
DE facial dysmorphism, microcephaly, and varying degrees of cortical
DE malformations including pachygyria, thin corpus callosum and
DE subcortical band heterotopia. Most patients have generalized seizures.
DR MIM; 618737; phenotype.
DR MedGen; CN263169.
DR MeSH; D008607.
DR MeSH; D054082.
KW KW-0451:Lissencephaly.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Pachyonychia congenita 1.
AC DI-00891
AR PC1.
DE An autosomal dominant ectodermal dysplasia characterized by
DE hypertrophic nail dystrophy resulting in onchyogryposis (thickening
DE and increase in curvature of the nail), palmoplantar keratoderma,
DE follicular hyperkeratosis, and oral leukokeratosis. Hyperhidrosis of
DE the hands and feet is usually present.
SY Jadassohn-Lewandowsky syndrome.
SY Pachyonychia congenita Jadassohn-Lewandowsky type.
DR MIM; 167200; phenotype.
DR MedGen; C1706595.
DR MeSH; D053549.
KW KW-0038:Ectodermal dysplasia.
KW KW-1007:Palmoplantar keratoderma.
//
ID Pachyonychia congenita 2.
AC DI-00892
AR PC2.
DE An autosomal dominant ectodermal dysplasia characterized by
DE hypertrophic nail dystrophy resulting in onchyogryposis (thickening
DE and increase in curvature of the nail), palmoplantar keratoderma and
DE hyperhidrosis, follicular hyperkeratosis, multiple epidermal cysts,
DE absent/sparse eyebrow and body hair, and by the presence of natal
DE teeth.
SY Pachyonychia congenita Jackson-Lawler type.
DR MIM; 167210; phenotype.
DR MedGen; C1721007.
DR MeSH; D053549.
KW KW-0038:Ectodermal dysplasia.
KW KW-1007:Palmoplantar keratoderma.
//
ID Pachyonychia congenita 3.
AC DI-04094
AR PC3.
DE An autosomal dominant genodermatosis characterized by hypertrophic
DE nail dystrophy, painful and highly debilitating plantar keratoderma,
DE oral leukokeratosis, and a variety of epidermal cysts.
DR MIM; 615726; phenotype.
DR MedGen; C3714948.
DR MedGen; CN185878.
DR MeSH; D053549.
KW KW-0038:Ectodermal dysplasia.
KW KW-1007:Palmoplantar keratoderma.
//
ID Pachyonychia congenita 4.
AC DI-04095
AR PC4.
DE An autosomal dominant genodermatosis characterized by hypertrophic
DE nail dystrophy, painful and highly debilitating plantar keratoderma,
DE oral leukokeratosis, and a variety of epidermal cysts.
DR MIM; 615728; phenotype.
DR MedGen; C3714949.
DR MedGen; CN185879.
DR MeSH; D053549.
KW KW-0038:Ectodermal dysplasia.
KW KW-1007:Palmoplantar keratoderma.
//
ID Paganini-Miozzo syndrome.
AC DI-05579
AR MRXSPM.
DE An X-linked, syndromic, neurodevelopmental disorder characterized by
DE intellectual disability, global developmental delay, severe myopia,
DE and mild facial dysmorphism.
DR MIM; 301025; phenotype.
DR MedGen; CN258821.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Paget disease of bone 2, early-onset.
AC DI-02120
AR PDB2.
DE A form of Paget disease, a disorder of bone remodeling characterized
DE by increased bone turnover affecting one or more sites throughout the
DE skeleton, primarily the axial skeleton. Osteoclastic overactivity
DE followed by compensatory osteoblastic activity leads to a structurally
DE disorganized mosaic of bone (woven bone), which is mechanically
DE weaker, larger, less compact, more vascular, and more susceptible to
DE fracture than normal adult lamellar bone.
DR MIM; 602080; phenotype.
DR MedGen; C0029401.
DR MeSH; D010001.
//
ID Paget disease of bone 3.
AC DI-04539
AR PDB3.
DE A disorder of bone remodeling characterized by increased bone turnover
DE affecting one or more sites throughout the skeleton, primarily the
DE axial skeleton. Osteoclastic overactivity followed by compensatory
DE osteoblastic activity leads to a structurally disorganized mosaic of
DE bone (woven bone), which is mechanically weaker, larger, less compact,
DE more vascular, and more susceptible to fracture than normal adult
DE lamellar bone.
SY Osteitis Deformans.
DR MIM; 167250; phenotype.
DR MedGen; CN032130.
DR MeSH; D010001.
//
ID Paget disease of bone 5, juvenile-onset.
AC DI-01852
AR PDB5.
DE An autosomal recessive, juvenile-onset form of Paget disease, a
DE disorder of bone remodeling characterized by increased bone turnover
DE affecting one or more sites throughout the skeleton, primarily the
DE axial skeleton. Osteoclastic overactivity followed by compensatory
DE osteoblastic activity leads to a structurally disorganized mosaic of
DE bone (woven bone), which is mechanically weaker, larger, less compact,
DE more vascular, and more susceptible to fracture than normal adult
DE lamellar bone. PDB5 clinical manifestations include short stature,
DE progressive long bone deformities, fractures, vertebral collapse,
DE skull enlargement, and hyperostosis with progressive deafness.
SY Chronic congenital idiopathic hyperphosphatasia.
SY Hereditary hyperphosphatasia.
SY Hyperostosis corticalis deformans juvenilis.
SY JPD.
SY Juvenile Paget disease.
SY Osteoectasia, familial.
DR MIM; 239000; phenotype.
DR MedGen; C0268414.
DR MeSH; D010001.
//
ID Paget disease of bone 6.
AC DI-04662
AR PDB6.
DE An autosomal dominant form of Paget disease, a disorder of bone
DE remodeling characterized by increased bone turnover affecting one or
DE more sites throughout the skeleton, primarily the axial skeleton.
DE Osteoclastic overactivity followed by compensatory osteoblastic
DE activity leads to a structurally disorganized mosaic of bone (woven
DE bone), which is mechanically weaker, larger, less compact, more
DE vascular, and more susceptible to fracture than normal adult lamellar
DE bone. PDB6 is characterized by adult onset of bone pain associated
DE with polyostotic bone lesions primarily affecting the axial skeleton.
DE In some cases, the pagetic tissue undergoes neoplastic transformation,
DE resulting in osteosarcoma and, less frequently, in giant cell tumor of
DE bone.
DR MIM; 616833; phenotype.
DR MedGen; CN235346.
DR MeSH; D010001.
//
ID Pallister-Hall syndrome.
AC DI-02122
AR PHS.
DE An autosomal dominant disorder characterized by a wide range of
DE clinical manifestations. Clinical features include hypothalamic
DE hamartoma, pituitary dysfunction, central or postaxial polydactyly,
DE and syndactyly. Malformations are frequent in the viscera, e.g. anal
DE atresia, bifid uvula, congenital heart malformations, pulmonary or
DE renal dysplasia.
SY Hypothalamic hamartoblastoma hypopituitarism imperforate anus and postaxial polydactyly.
DR MIM; 146510; phenotype.
DR MedGen; C0265220.
DR MeSH; D054975.
//
ID Pallister-Hall-like syndrome.
AC DI-05902
AR PHLS.
DE An autosomal recessive disorder characterized by a wide phenotypic
DE spectrum of developmental anomalies affecting the brain, heart,
DE skeleton and enteric nervous system. Clinical features include
DE hypothalamic hamartoma, microcephaly, atrioventricular septal defect,
DE postaxial polydactyly, narrow chest, shortening of long bones, and
DE aganglionosis.
SY Hamartoma of hypothalamus.
SY Hypothalamic hamartomas.
DR MIM; 241800; phenotype.
DR MedGen; C0342418.
DR MeSH; D054975.
//
ID Palmoplantar carcinoma, multiple self-healing.
AC DI-03762
AR MSPC.
DE An autosomal dominant disease characterized by keratopathy with
DE neovascularization, bilateral corneal opacification, palmoplantar
DE hyperkeratosis, dyshidrosis, dystrophic nails, and recurrent
DE keratoacanthomas in palmoplantar skin as well as in conjunctival and
DE corneal epithelia. In addition, patients experience a high
DE susceptibility to malignant squamous cell carcinoma.
SY CIDED.
SY Corneal intraepithelial dyskeratosis and ectodermal dysplasia.
DR MIM; 615225; phenotype.
DR MedGen; C3808876.
DR MedGen; CN169519.
DR MeSH; D003316.
DR MeSH; D004476.
KW KW-0038:Ectodermal dysplasia.
//
ID Palmoplantar keratoderma 1, striate, focal, or diffuse.
AC DI-00895
AR PPKS1.
DE A dermatological disorder characterized by thickening of the skin on
DE the palms and soles, and longitudinal hyperkeratotic lesions on the
DE palms, running the length of each finger.
SY Keratoderma, palmoplantar, striate form I.
SY Keratosis palmoplantaris striata I.
SY KPPS1.
SY SPPK1.
SY Striate palmoplantar keratoderma I.
DR MIM; 148700; phenotype.
DR MedGen; C1835661.
DR MedGen; C2931122.
DR MeSH; D007645.
KW KW-1007:Palmoplantar keratoderma.
//
ID Palmoplantar keratoderma and congenital alopecia 1.
AC DI-04540
AR PPKCA1.
DE A rare autosomal dominant disorder characterized by severe
DE hyperkeratosis of the palms and soles, and congenital hypotrichosis or
DE alopecia. Dystrophic nail changes occur in some patients.
SY Keratoderma-hypotrichosis-leukonychia totalis syndrome.
SY PPKCA, Stevanovic type.
DR MIM; 104100; phenotype.
DR MedGen; C1863093.
DR MedGen; C3151468.
DR MeSH; D000505.
DR MeSH; D007645.
KW KW-1007:Palmoplantar keratoderma.
KW KW-1063:Hypotrichosis.
//
ID Palmoplantar keratoderma and woolly hair.
AC DI-04260
AR PPKWH.
DE A disorder characterized by abnormal thickening of the skin on the
DE palms and soles, in association with woolly scalp hair. Affected
DE individuals manifest a variable degree of striate palmoplantar
DE keratoderma, generally more severe on the soles. Leukonychia is more
DE pronounced on the fingernails than toenails. Scalp hair, body hair,
DE eyebrows, and eyelashes are sparse. The fifth toes show variable
DE degrees of pseudoainhum, ranging from external rotation to a deep
DE sulcus at the digitoplantar fold, accompanied by a bulbous appearance
DE of the distal toe.
DR MIM; 616099; phenotype.
DR MedGen; CN221807.
DR MeSH; D007645.
KW KW-1007:Palmoplantar keratoderma.
//
ID Palmoplantar keratoderma, non-epidermolytic, focal 2.
AC DI-04445
AR FNEPPK2.
DE A dermatological disorder characterized by non-epidermolytic, abnormal
DE thickening of the skin on the palms and soles. Focal palmoplantar
DE keratoderma consists of localized areas of hyperkeratosis located
DE mainly on pressure points and sites of recurrent friction.
DR MIM; 616400; phenotype.
DR MedGen; CN231148.
DR MeSH; D007645.
KW KW-1007:Palmoplantar keratoderma.
//
ID Palmoplantar keratoderma, non-epidermolytic, focal or diffuse.
AC DI-04096
AR PPKNEFD.
DE A dermatological disorder characterized by non-epidermolytic abnormal
DE thickening of the skin on the palms and soles. Diffuse palmoplantar
DE keratoderma is characterized by uniform involvement of the
DE palmoplantar surface, while the focal form consists of localized areas
DE of hyperkeratosis located mainly on pressure points and sites of
DE recurrent friction.
SY Nonepidermolytic focal or diffuse palmoplantar keratoderma.
DR MIM; 615735; phenotype.
DR MedGen; C3810394.
DR MedGen; CN185877.
DR MeSH; D007645.
KW KW-1007:Palmoplantar keratoderma.
//
ID Pancreatic agenesis 1.
AC DI-02123
AR PAGEN1.
DE A disease characterized by isolated hypoplasia or agenesis of the
DE pancreas, pancreatic beta-cell failure resulting in neonatal insulin-
DE dependent diabetes mellitus, and exocrine pancreatic insufficiency.
SY Congenital pancreatic hypoplasia.
SY PAGEN.
DR MIM; 260370; phenotype.
DR MedGen; C1850096.
DR MeSH; D010182.
KW KW-0219:Diabetes mellitus.
//
ID Pancreatic agenesis 2.
AC DI-04182
AR PAGEN2.
DE A disease characterized by isolated hypoplasia or agenesis of the
DE pancreas, pancreatic beta-cell failure resulting in neonatal insulin-
DE dependent diabetes mellitus, and exocrine pancreatic insufficiency.
SY Congenital pancreatic hypoplasia 2.
DR MIM; 615935; phenotype.
DR MedGen; CN207621.
DR MeSH; D003920.
DR MeSH; D010188.
KW KW-0219:Diabetes mellitus.
//
ID Pancreatic agenesis and congenital heart defects.
AC DI-03371
AR PACHD.
DE An autosomal dominant disease characterized by pancreatic severe
DE hypoplasia or agenesis, diabetes mellitus, and congenital heart
DE abnormalities including ventricular septal defect, patent ductus
DE arteriosus, pulmonary artery stenosis, truncus arteriosus and
DE tetralogy of Fallot.
SY Congenital pancreatic agenesis with diabetes mellitus and congenital heart disease.
SY HDCA.
SY Heart defects, congenital, and other congenital anomalies.
DR MIM; 600001; phenotype.
DR MedGen; C1838780.
DR MeSH; D003920.
DR MeSH; D006330.
//
ID Pancreatic and cerebellar agenesis.
AC DI-01484
AR PACA.
DE A disease characterized by neonatal diabetes mellitus, cerebellar
DE agenesis or hypoplasia, severe intrauterine growth retardation, the
DE presence of very little subcutaneous fat, and dysmorphic facial
DE features.
SY Diabetes mellitus and cerebellar hypoplasia/agenesis.
SY Permanent neonatal diabetes mellitus with cerebellar agenesis.
DR MIM; 609069; phenotype.
DR MedGen; C1836780.
DR MeSH; D003920.
KW KW-0219:Diabetes mellitus.
//
ID Pancreatic cancer.
AC DI-02124
AR PNCA.
DE A malignant neoplasm of the pancreas. Tumors can arise from both the
DE exocrine and endocrine portions of the pancreas, but 95% of them
DE develop from the exocrine portion, including the ductal epithelium,
DE acinar cells, connective tissue, and lymphatic tissue.
SY Pancreatic acinar carcinoma.
SY Pancreatic carcinoma.
DR MIM; 260350; phenotype.
DR MedGen; C0235974.
DR MeSH; D010190.
//
ID Pancreatic cancer 1.
AC DI-02849
AR PNCA1.
DE A malignant neoplasm of the pancreas. Tumors can arise from both the
DE exocrine and endocrine portions of the pancreas, but 95% of them
DE develop from the exocrine portion, including the ductal epithelium,
DE acinar cells, connective tissue, and lymphatic tissue.
DR MIM; 606856; phenotype.
DR MedGen; C1847351.
DR MeSH; D010190.
//
ID Pancreatic cancer 2.
AC DI-02847
AR PNCA2.
DE A malignant neoplasm of the pancreas. Tumors can arise from both the
DE exocrine and endocrine portions of the pancreas, but 95% of them
DE develop from the exocrine portion, including the ductal epithelium,
DE acinar cells, connective tissue, and lymphatic tissue.
DR MIM; 613347; phenotype.
DR MedGen; C3150546.
DR MeSH; D010190.
//
ID Pancreatic cancer 3.
AC DI-02848
AR PNCA3.
DE A malignant neoplasm of the pancreas. Tumors can arise from both the
DE exocrine and endocrine portions of the pancreas, but 95% of them
DE develop from the exocrine portion, including the ductal epithelium,
DE acinar cells, connective tissue, and lymphatic tissue.
DR MIM; 613348; phenotype.
DR MedGen; C3150547.
DR MeSH; D010190.
//
ID Pancreatic cancer 4.
AC DI-03281
AR PNCA4.
DE A malignant neoplasm of the pancreas. Tumors can arise from both the
DE exocrine and endocrine portions of the pancreas, but 95% of them
DE develop from the exocrine portion, including the ductal epithelium,
DE acinar cells, connective tissue, and lymphatic tissue.
DR MIM; 614320; phenotype.
DR MedGen; C3280442.
DR MedGen; CN071477.
DR MeSH; D010190.
//
ID Pancreatic cancer 5.
AC DI-05686
AR PNCA5.
DE A malignant neoplasm of the pancreas. Tumors can arise from both the
DE exocrine and endocrine portions of the pancreas, but 95% of them
DE develop from the exocrine portion, including the ductal epithelium,
DE acinar cells, connective tissue, and lymphatic tissue.
DR MIM; 618680; phenotype.
DR MedGen; CN262920.
DR MeSH; D010190.
//
ID Pancreatic lipase deficiency.
AC DI-05008
AR PNLIPD.
DE An autosomal recessive disorder characterized by exocrine pancreatic
DE failure. Clinical findings include oily/greasy stools from infancy or
DE early childhood, absence of discernible pancreatic disease, and
DE significantly decreased pancreatic lipolytic activity.
SY Congenital absence of pancreatic lipase.
SY PL deficiency.
DR MIM; 614338; phenotype.
DR MedGen; C3280527.
DR MeSH; D008052.
//
ID Pancreatitis, hereditary.
AC DI-01731
AR PCTT.
DE A disease characterized by pancreas inflammation, permanent
DE destruction of the pancreatic parenchyma, maldigestion, and severe
DE abdominal pain attacks.
SY Chronic pancreatitis.
SY CP.
SY HP.
SY HPC.
DR MIM; 167800; phenotype.
DR MedGen; C0238339.
DR MedGen; C1832108.
DR MedGen; C1868653.
DR MedGen; C1969419.
DR MeSH; D010195.
//
ID Panhypopituitarism X-linked.
AC DI-02125
AR PHPX.
DE Affected individuals have absent infundibulum, anterior pituitary
DE hypoplasia, and ectopic posterior pituitary.
DR MIM; 312000; phenotype.
DR MedGen; C0342376.
//
ID PAPA syndrome.
AC DI-02127
AR PAPAS.
DE Characterized by autosomal dominant inheritance of early-onset,
DE primarily affecting skin and joint tissues. Recurring inflammatory
DE episodes lead to accumulation of sterile, pyogenic, neutrophil-rich
DE material within the affected joints, ultimately resulting in
DE significant destruction.
SY Familial recurrent arthritis.
SY FRA.
SY Pyogenic sterile arthritis, pyoderma gangrenosum and acne.
DR MIM; 604416; phenotype.
DR MedGen; C1858361.
//
ID Papilloma of choroid plexus.
AC DI-01346
AR CPP.
DE A benign tumor of neuroectodermal origin that generally occurs in
DE childhood, but has also been reported in adults. Although generally
DE found within the ventricular system, choroid plexus papillomas can
DE arise ectopically in the brain parenchyma or disseminate throughout
DE the neuraxis. Patients present with signs and symptoms of increased
DE intracranial pressure including headache, hydrocephalus, papilledema,
DE nausea, vomiting, cranial nerve deficits, gait impairment, and
DE seizures.
SY Choroid plexus papilloma.
DR MIM; 260500; phenotype.
DR MedGen; C0205770.
DR MedGen; C0431109.
DR MeSH; D020288.
//
ID Papillon-Lefevre syndrome.
AC DI-00900
AR PLS.
DE An autosomal recessive disorder characterized by palmoplantar
DE keratosis and severe periodontitis affecting deciduous and permanent
DE dentitions and resulting in premature tooth loss. The palmoplantar
DE keratotic phenotype vary from mild psoriasiform scaly skin to overt
DE hyperkeratosis. Keratosis also affects other sites such as elbows and
DE knees.
SY Keratosis palmoplantaris with periodontopathia.
SY PALS.
DR MIM; 245000; phenotype.
DR MedGen; C0030360.
DR MeSH; D010214.
KW KW-1007:Palmoplantar keratoderma.
//
ID Papillorenal syndrome.
AC DI-02258
AR PAPRS.
DE An autosomal dominant disorder characterized by both ocular and renal
DE anomalies, but may also include vesicoureteral reflux, high frequency
DE hearing loss, central nervous system anomalies, and/or genital
DE anomalies. Eye anomalies in this disorder consist of a wide and
DE sometimes excavated dysplastic optic disk with the emergence of the
DE retinal vessels from the periphery of the disk, designated optic nerve
DE coloboma or 'morning glory' anomaly. Associated findings may include a
DE small corneal diameter, retinal coloboma, scleral staphyloma, optic
DE nerve cyst, microphthalmia, and pigmentary macular dysplasia. The
DE kidneys are small and abnormally formed (renal hypodysplasia), and
DE have fewer than the normal number of glomeruli, which are enlarged
DE (oligomeganephronia). These ocular and renal anomalies result in
DE decreased visual acuity and retinal detachment, as well as
DE hypertension, proteinuria, and renal insufficiency that frequently
DE progresses to end-stage renal disease.
SY CAKUT with or without ocular abnormalities.
SY Coloboma of optic nerve with renal disease.
SY Congenital anomalies of the kidney and urinary tract with or without ocular abnormalities.
SY Optic coloboma vesicoureteral reflux and renal anomalies.
SY Optic nerve coloboma with renal disease.
SY Renal-coloboma syndrome.
SY Renal-coloboma syndrome with macular abnormalities.
DR MIM; 120330; phenotype.
DR MedGen; C1852759.
DR MeSH; D003103.
DR MeSH; D014718.
DR MeSH; D051437.
//
ID Paraganglioma and gastric stromal sarcoma.
AC DI-02128
AR PGGSS.
DE Gastrointestinal stromal tumors may be sporadic or inherited in an
DE autosomal dominant manner, alone or as a component of a syndrome
DE associated with other tumors, such as in the context of
DE neurofibromatosis type 1 (NF1). Patients have both gastrointestinal
DE stromal tumors and paragangliomas. Susceptibility to the tumors was
DE inherited in an apparently autosomal dominant manner, with incomplete
DE penetrance.
SY Carney-Stratakis syndrome.
SY Paraganglioma and gastrointestinal stromal tumor.
DR MIM; 606864; phenotype.
DR MedGen; C1847319.
//
ID Paragangliomas 1.
AC DI-01733
AR PGL1.
DE A neural crest tumor usually derived from the chromoreceptor tissue of
DE a paraganglion. PGL1 is a rare autosomal dominant disorder which is
DE characterized by the development of mostly benign, highly vascular,
DE slowly growing tumors in the head and neck. In the head and neck
DE region, the carotid body is the largest of all paraganglia and is also
DE the most common site of the tumors.
SY Carotid body tumors.
SY CBT1.
SY Chemodectomas.
SY Familial non-chromaffin paragangliomas 1.
SY Familial paragangliomas non-chromaffin 1 with or without deafness.
SY Glomus jugulare tumors.
SY Glomus tumors familial 1.
SY Paraganglioma carotid body.
SY Paragangliomas familial 1.
SY Paragangliomata.
SY PGL.
DR MIM; 168000; phenotype.
DR MedGen; C0007279.
DR MedGen; C0017671.
DR MedGen; C0030421.
DR MedGen; C0030422.
DR MedGen; C1868633.
DR MedGen; C3494181.
DR MeSH; D010235.
//
ID Paragangliomas 2.
AC DI-01734
AR PGL2.
DE A neural crest tumor usually derived from the chromoreceptor tissue of
DE a paraganglion. Paragangliomas can develop at various body sites,
DE including the head, neck, thorax and abdomen. Most commonly, they are
DE located in the head and neck region, specifically at the carotid
DE bifurcation, the jugular foramen, the vagal nerve, and in the middle
DE ear.
SY Familial non-chromaffin paragangliomas 2.
SY Glomus tumors familial 2.
DR MIM; 601650; phenotype.
DR MedGen; C1866552.
DR MeSH; D010235.
//
ID Paragangliomas 3.
AC DI-01218
AR PGL3.
DE A neural crest tumor usually derived from the chromoreceptor tissue of
DE a paraganglion. Paragangliomas can develop at various body sites,
DE including the head, neck, thorax and abdomen. Most commonly, they are
DE located in the head and neck region, specifically at the carotid
DE bifurcation, the jugular foramen, the vagal nerve, and in the middle
DE ear.
SY Familial non-chromaffin paragangliomas 3.
SY Glomus tumors familial 3.
DR MIM; 605373; phenotype.
DR MedGen; C1854336.
DR MeSH; D010235.
//
ID Paragangliomas 4.
AC DI-01735
AR PGL4.
DE A neural crest tumor usually derived from the chromoreceptor tissue of
DE a paraganglion. Paragangliomas can develop at various body sites,
DE including the head, neck, thorax and abdomen. Most commonly, they are
DE located in the head and neck region, specifically at the carotid
DE bifurcation, the jugular foramen, the vagal nerve, and in the middle
DE ear.
SY Carotid body tumors and multiple extraadrenal pheochromocytomas.
SY Familial chromaffin paraganglioma 4.
SY Paraganglioma familial malignant.
SY Paragangliomas hereditary extraadrenal.
SY Pheochromocytoma extraadrenal and cervical paraganglioma.
SY Pheochromocytoma familial extraadrenal.
DR MIM; 115310; phenotype.
DR MedGen; C1861848.
DR MeSH; D010235.
//
ID Paragangliomas 5.
AC DI-03195
AR PGL5.
DE A neural crest tumor usually derived from the chromoreceptor tissue of
DE a paraganglion. Paragangliomas can develop at various body sites,
DE including the head, neck, thorax and abdomen. Most commonly, they are
DE located in the head and neck region, specifically at the carotid
DE bifurcation, the jugular foramen, the vagal nerve, and in the middle
DE ear.
DR MIM; 614165; phenotype.
DR MedGen; C3279992.
DR MeSH; D010235.
//
ID Paragangliomas 6.
AC DI-05590
AR PGL6.
DE An autosomal dominant tumor predisposition syndrome characterized by
DE adult-onset development of paragangliomas, neural crest tumors usually
DE derived from the chromoreceptor tissue of a paraganglion.
DE Paragangliomas can develop at various body sites, including the head,
DE neck, thorax and abdomen. Some of the tumors may secrete biologically
DE active normetanephrine, resulting in secondary hypertension. PGL6
DE patients are at high risk for metastatic disease.
DR MIM; 618464; phenotype.
DR MedGen; CN260169.
DR MeSH; D010235.
//
ID Paragangliomas 7.
AC DI-05591
AR PGL7.
DE An autosomal dominant tumor predisposition syndrome characterized by
DE adult-onset development of paragangliomas, neural crest tumors usually
DE derived from the chromoreceptor tissue of a paraganglion. PGL7 tumors
DE are generally benign, tend to be abdominal, and often secrete
DE normetanephrine.
DR MIM; 618475; phenotype.
DR MedGen; CN260173.
DR MeSH; D010235.
//
ID Paramyotonia congenita of von Eulenburg.
AC DI-00901
AR PMC.
DE An autosomal dominant channelopathy characterized by myotonia,
DE increased by exposure to cold, intermittent flaccid paresis, not
DE necessarily dependent on cold or myotonia, lability of serum
DE potassium, non-progressive nature and lack of atrophy or hypertrophy
DE of muscles. In some patients, myotonia is not increased by cold
DE exposure (paramyotonia without cold paralysis). Patients may have a
DE combination phenotype of PMC and HYPP.
SY Paralysis periodica paramyotonia.
SY Paralysis periodica paramyotonica.
SY Paramyotonia congenita without cold paralysis.
DR MIM; 168300; phenotype.
DR MedGen; C0221055.
DR MedGen; C1868617.
DR MedGen; C1868618.
DR MedGen; C1868619.
DR MeSH; D020967.
//
ID Parastremmatic dwarfism.
AC DI-02970
AR PSTD.
DE A bone dysplasia characterized by severe dwarfism, kyphoscoliosis,
DE distortion and bowing of the extremities, and contractures of the
DE large joints. Radiographically, the disease is characterized by a
DE combination of decreased bone density, bowing of the long bones,
DE platyspondyly and striking irregularities of endochondral ossification
DE with areas of calcific stippling and streaking in radiolucent
DE epiphyses, metaphyses and apophyses.
DR MIM; 168400; phenotype.
DR MedGen; C1868616.
DR MeSH; D004392.
KW KW-0242:Dwarfism.
//
ID Parathyroid carcinoma.
AC DI-02129
AR PRTC.
DE These cancers characteristically result in more profound clinical
DE manifestations of hyperparathyroidism than do parathyroid adenomas,
DE the most frequent cause of primary hyperparathyroidism. Early en bloc
DE resection of the primary tumor is the only curative treatment.
DR MIM; 608266; phenotype.
DR MedGen; C0687150.
//
ID Parietal foramina 1.
AC DI-02130
AR PFM1.
DE Autosomal dominant disease characterized by oval defects of the
DE parietal bones caused by deficient ossification around the parietal
DE notch, which is normally obliterated during the fifth fetal month.
SY Catlin marks.
SY Cranium bifidum, hereditary.
SY Cranium bifidum occultum.
SY Enlarged parietal foramina.
SY Foramina parietalia permagna.
SY FPP.
SY Parietal foramina, symmetric.
SY PFM.
DR MIM; 168500; phenotype.
DR MedGen; C1868598.
DR MedGen; C1868599.
DR MeSH; D004677.
//
ID Parietal foramina 2.
AC DI-02131
AR PFM2.
DE Autosomal dominant disease characterized by oval defects of the
DE parietal bones caused by deficient ossification around the parietal
DE notch, which is normally obliterated during the fifth fetal month.
DE PFM2 is also a clinical feature of Potocki-Shaffer syndrome.
SY Foramina parietalia permagna.
SY FPP.
DR MIM; 609597; phenotype.
DR MedGen; C1865044.
//
ID Parietal foramina with cleidocranial dysplasia.
AC DI-02132
AR PFMCCD.
DE Combines skull defects in the form of enlarged parietal foramina and
DE deficient ossification of the clavicles.
SY Cleidocranial dysplasia with parietal foramina.
DR MIM; 168550; phenotype.
DR MedGen; C1868597.
//
ID Parkinson disease.
AC DI-02134
AR PARK.
DE A complex neurodegenerative disorder characterized by bradykinesia,
DE resting tremor, muscular rigidity and postural instability. Additional
DE features are characteristic postural abnormalities, dysautonomia,
DE dystonic cramps, and dementia. The pathology of Parkinson disease
DE involves the loss of dopaminergic neurons in the substantia nigra and
DE the presence of Lewy bodies (intraneuronal accumulations of aggregated
DE proteins), in surviving neurons in various areas of the brain. The
DE disease is progressive and usually manifests after the age of 50
DE years, although early-onset cases (before 50 years) are known. The
DE majority of the cases are sporadic suggesting a multifactorial
DE etiology based on environmental and genetic factors. However, some
DE patients present with a positive family history for the disease.
DE Familial forms of the disease usually begin at earlier ages and are
DE associated with atypical clinical features.
SY Idiopathic Parkinson disease.
SY Late onset Parkinson disease.
SY Lewy body Parkinson disease.
SY Paralysis Agitans.
SY PD.
SY Primary Parkinsonism.
DR MIM; 168600; phenotype.
DR MedGen; C0030567.
DR MedGen; C3160718.
DR MeSH; D010300.
KW KW-0523:Neurodegeneration.
KW KW-0907:Parkinson disease.
KW KW-0908:Parkinsonism.
//
ID Parkinson disease 1, autosomal dominant.
AC DI-01223
AR PARK1.
DE A complex neurodegenerative disorder characterized by bradykinesia,
DE resting tremor, muscular rigidity and postural instability. Additional
DE features are characteristic postural abnormalities, dysautonomia,
DE dystonic cramps, and dementia. The pathology of Parkinson disease
DE involves the loss of dopaminergic neurons in the substantia nigra and
DE the presence of Lewy bodies (intraneuronal accumulations of aggregated
DE proteins), in surviving neurons in various areas of the brain. The
DE disease is progressive and usually manifests after the age of 50
DE years, although early-onset cases (before 50 years) are known. The
DE majority of the cases are sporadic suggesting a multifactorial
DE etiology based on environmental and genetic factors. However, some
DE patients present with a positive family history for the disease.
DE Familial forms of the disease usually begin at earlier ages and are
DE associated with atypical clinical features.
SY Atypical parkinson disease.
SY Lewy body parkinsonism.
SY Parkinson disease autosomal dominant 1.
SY Parkinson disease familial type 1.
DR MIM; 168601; phenotype.
DR MedGen; C1868595.
DR MedGen; C1868596.
DR MedGen; C3149705.
DR MeSH; D010300.
KW KW-0523:Neurodegeneration.
KW KW-0907:Parkinson disease.
KW KW-0908:Parkinsonism.
//
ID Parkinson disease 11.
AC DI-02137
AR PARK11.
DE A complex neurodegenerative disorder characterized by bradykinesia,
DE resting tremor, muscular rigidity and postural instability, as well as
DE by a clinically significant response to treatment with levodopa. The
DE pathology involves the loss of dopaminergic neurons in the substantia
DE nigra and the presence of Lewy bodies (intraneuronal accumulations of
DE aggregated proteins), in surviving neurons in various areas of the
DE brain.
SY Parkinson disease 11, autosomal dominant, susceptibility to.
DR MIM; 607688; phenotype.
DR MedGen; C1843211.
DR MeSH; D010300.
KW KW-0523:Neurodegeneration.
KW KW-0907:Parkinson disease.
KW KW-0908:Parkinsonism.
//
ID Parkinson disease 13.
AC DI-02138
AR PARK13.
DE A complex neurodegenerative disorder characterized by bradykinesia,
DE resting tremor, muscular rigidity and postural instability, as well as
DE by a clinically significant response to treatment with levodopa. The
DE pathology involves the loss of dopaminergic neurons in the substantia
DE nigra and the presence of Lewy bodies (intraneuronal accumulations of
DE aggregated proteins), in surviving neurons in various areas of the
DE brain.
DR MIM; 610297; phenotype.
DR MedGen; C1853202.
DR MeSH; D010300.
KW KW-0523:Neurodegeneration.
KW KW-0907:Parkinson disease.
KW KW-0908:Parkinsonism.
//
ID Parkinson disease 14.
AC DI-02500
AR PARK14.
DE An adult-onset progressive neurodegenerative disorder characterized by
DE parkinsonism, dystonia, severe cognitive decline, cerebral and
DE cerebellar atrophy and absent iron in the basal ganglia on magnetic
DE resonance imaging.
SY Dystonia-parkinsonism adult-onset.
SY Dystonia-parkinsonism Paisan-Ruiz type.
SY Parkinson disease 14 autosomal recessive.
DR MIM; 612953; phenotype.
DR MedGen; C2751842.
DR MeSH; D004421.
DR MeSH; D020734.
KW KW-0523:Neurodegeneration.
KW KW-0907:Parkinson disease.
KW KW-0908:Parkinsonism.
KW KW-1023:Dystonia.
//
ID Parkinson disease 15.
AC DI-02139
AR PARK15.
DE A neurodegenerative disorder characterized by parkinsonian and
DE pyramidal signs. Clinical manifestations include tremor, bradykinesia,
DE rigidity, postural instability, spasticity, mainly in the lower limbs,
DE and hyperreflexia.
SY Pallidopyramidal syndrome.
SY Pallido-pyramidal syndrome.
SY Parkinson disease 15 autosomal recessive.
SY Parkinsonian-pyramidal syndrome.
SY PKPS.
SY PPS.
DR MIM; 260300; phenotype.
DR MedGen; C1850100.
DR MeSH; D020734.
KW KW-0523:Neurodegeneration.
KW KW-0907:Parkinson disease.
KW KW-0908:Parkinsonism.
//
ID Parkinson disease 17.
AC DI-03242
AR PARK17.
DE An autosomal dominant, adult-onset form of Parkinson disease.
DE Parkinson disease is a complex neurodegenerative disorder
DE characterized by bradykinesia, resting tremor, muscular rigidity and
DE postural instability, as well as by a clinically significant response
DE to treatment with levodopa. The pathology involves the loss of
DE dopaminergic neurons in the substantia nigra and the presence of Lewy
DE bodies (intraneuronal accumulations of aggregated proteins), in
DE surviving neurons in various areas of the brain.
DR MIM; 614203; phenotype.
DR MedGen; C3280133.
DR MeSH; D010300.
KW KW-0523:Neurodegeneration.
KW KW-0907:Parkinson disease.
KW KW-0908:Parkinsonism.
//
ID Parkinson disease 18.
AC DI-03274
AR PARK18.
DE An autosomal dominant, late-onset form of Parkinson disease. Parkinson
DE disease is a complex neurodegenerative disorder characterized by
DE bradykinesia, resting tremor, muscular rigidity and postural
DE instability, as well as by a clinically significant response to
DE treatment with levodopa. The pathology involves the loss of
DE dopaminergic neurons in the substantia nigra and the presence of Lewy
DE bodies (intraneuronal accumulations of aggregated proteins), in
DE surviving neurons in various areas of the brain.
SY Parkinson disease 18, autosomal dominant, susceptibility to.
SY Parkinson disease 18 autosomal dominant.
DR MIM; 614251; phenotype.
DR MedGen; C3280271.
DR MeSH; D010300.
KW KW-0523:Neurodegeneration.
KW KW-0907:Parkinson disease.
KW KW-0908:Parkinsonism.
//
ID Parkinson disease 19A, juvenile-onset.
AC DI-03961
AR PARK19A.
DE A juvenile form of Parkinson disease, a complex neurodegenerative
DE disorder characterized by bradykinesia, resting tremor, muscular
DE rigidity and postural instability, as well as by a clinically
DE significant response to treatment with levodopa. The pathology
DE involves the loss of dopaminergic neurons in the substantia nigra and
DE the presence of Lewy bodies (intraneuronal accumulations of aggregated
DE proteins), in surviving neurons in various areas of the brain. PARK19A
DE is characterized by onset of parkinsonian symptoms in the first or
DE second decade of life. Some patients may have additional neurologic
DE features, including intellectual disability and seizures.
SY PARK19.
DR MIM; 615528; phenotype.
DR MedGen; C3809811.
DR MedGen; CN181757.
DR MeSH; D010300.
KW KW-0523:Neurodegeneration.
KW KW-0907:Parkinson disease.
KW KW-0908:Parkinsonism.
//
ID Parkinson disease 19B, early-onset.
AC DI-04813
AR PARK19B.
DE An early-onset form of Parkinson disease, a complex neurodegenerative
DE disorder characterized by bradykinesia, resting tremor, muscular
DE rigidity and postural instability, as well as by a clinically
DE significant response to treatment with levodopa. The pathology
DE involves the loss of dopaminergic neurons in the substantia nigra and
DE the presence of Lewy bodies (intraneuronal accumulations of aggregated
DE proteins), in surviving neurons in various areas of the brain. PARK19B
DE is characterized by symptoms onset in the third-to-fifth decade, slow
DE disease progression, and prominent. response to dopaminergic
DE therapies. Inheritance is autosomal recessive.
DR MIM; 615528; phenotype.
DR MedGen; C3809811.
DR MedGen; CN181757.
DR MeSH; D010300.
KW KW-0523:Neurodegeneration.
KW KW-0907:Parkinson disease.
KW KW-0908:Parkinsonism.
//
ID Parkinson disease 2.
AC DI-01238
AR PARK2.
DE A neurodegenerative disorder characterized by bradykinesia, rigidity,
DE postural instability, tremor, and onset usually before 40. It differs
DE from classic Parkinson disease by early DOPA-induced dyskinesia,
DE diurnal fluctuation of the symptoms, sleep benefit, dystonia and
DE hyper-reflexia. Dementia is absent. Pathologically, patients show loss
DE of dopaminergic neurons in the substantia nigra, similar to that seen
DE in Parkinson disease; however, Lewy bodies (intraneuronal
DE accumulations of aggregated proteins) are absent.
SY Autosomal recessive early-onset Parkinson disease type 2.
SY Autosomal recessive juvenile Parkinson disease.
SY Chromosome 6-linked autosomal recessive parkinsonism.
SY Early-onset parkinsonism with diurnal fluctuation.
SY EPDF.
SY Parkinsonism young adult onset.
SY PDJ.
DR MIM; 600116; phenotype.
DR MedGen; C1868675.
DR MeSH; D020734.
KW KW-0523:Neurodegeneration.
KW KW-0907:Parkinson disease.
KW KW-0908:Parkinsonism.
//
ID Parkinson disease 20, early-onset.
AC DI-03964
AR PARK20.
DE An early-onset form of Parkinson disease, a complex neurodegenerative
DE disorder characterized by bradykinesia, resting tremor, muscular
DE rigidity and postural instability, as well as by a clinically
DE significant response to treatment with levodopa. The pathology
DE involves the loss of dopaminergic neurons in the substantia nigra and
DE the presence of Lewy bodies (intraneuronal accumulations of aggregated
DE proteins), in surviving neurons in various areas of the brain. PARK20
DE is characterized by young adult-onset of parkinsonism. Additional
DE features may include seizures, cognitive decline, abnormal eye
DE movements, and dystonia.
DR MIM; 615530; phenotype.
DR MedGen; C3809824.
DR MedGen; CN181760.
DR MeSH; D020734.
KW KW-0523:Neurodegeneration.
KW KW-0907:Parkinson disease.
KW KW-0908:Parkinsonism.
//
ID Parkinson disease 21.
AC DI-04425
AR PARK21.
DE An autosomal dominant form of adult-onset Parkinson disease, a complex
DE neurodegenerative disorder characterized by bradykinesia, resting
DE tremor, muscular rigidity and postural instability, as well as by a
DE clinically significant response to treatment with levodopa. The
DE pathology involves the loss of dopaminergic neurons in the substantia
DE nigra and the presence of Lewy bodies (intraneuronal accumulations of
DE aggregated proteins), in surviving neurons in various areas of the
DE brain.
DR MIM; 616361; phenotype.
DR MedGen; CN230317.
DR MeSH; D020734.
KW KW-0523:Neurodegeneration.
KW KW-0907:Parkinson disease.
KW KW-0908:Parkinsonism.
//
ID Parkinson disease 22.
AC DI-04601
AR PARK22.
DE An autosomal dominant form of Parkinson disease, a complex
DE neurodegenerative disorder characterized by bradykinesia, resting
DE tremor, muscular rigidity and postural instability, as well as by a
DE clinically significant response to treatment with levodopa. The
DE pathology involves the loss of dopaminergic neurons in the substantia
DE nigra and the presence of Lewy bodies (intraneuronal accumulations of
DE aggregated proteins), in surviving neurons in various areas of the
DE brain.
SY Parkinson disease 22, autosomal dominant.
DR MIM; 616710; phenotype.
DR MedGen; CN234663.
DR MeSH; D020734.
KW KW-0523:Neurodegeneration.
KW KW-0907:Parkinson disease.
KW KW-0908:Parkinsonism.
//
ID Parkinson disease 23, autosomal recessive, early onset.
AC DI-04668
AR PARK23.
DE An autosomal recessive, early-onset form of Parkinson disease, a
DE complex neurodegenerative disorder characterized by bradykinesia,
DE resting tremor, muscular rigidity and postural instability, as well as
DE by a clinically significant response to treatment with levodopa. The
DE pathology involves the loss of dopaminergic neurons in the substantia
DE nigra and the presence of Lewy bodies (intraneuronal accumulations of
DE aggregated proteins), in surviving neurons in various areas of the
DE brain.
DR MIM; 616840; phenotype.
DR MedGen; CN235610.
DR MeSH; D020734.
KW KW-0523:Neurodegeneration.
KW KW-0907:Parkinson disease.
KW KW-0908:Parkinsonism.
//
ID Parkinson disease 24, autosomal dominant.
AC DI-06202
AR PARK24.
DE An autosomal dominant form of Parkinson disease, a complex
DE neurodegenerative disorder characterized by bradykinesia, resting
DE tremor, muscular rigidity and postural instability, as well as by a
DE clinically significant response to treatment with levodopa. The
DE pathology involves the loss of dopaminergic neurons in the substantia
DE nigra and the presence of Lewy bodies (intraneuronal accumulations of
DE aggregated proteins), in surviving neurons in various areas of the
DE brain. PARK24 shows incomplete penetrance.
DR MIM; 619491; phenotype.
DR MedGen; CN300371.
DR MeSH; D010300.
KW KW-0523:Neurodegeneration.
KW KW-0907:Parkinson disease.
KW KW-0908:Parkinsonism.
//
ID Parkinson disease 4, autosomal dominant.
AC DI-02135
AR PARK4.
DE A complex neurodegenerative disorder with manifestations ranging from
DE typical Parkinson disease to dementia with Lewy bodies. Clinical
DE features include parkinsonian symptoms (resting tremor, rigidity,
DE postural instability and bradykinesia), dementia, diffuse Lewy body
DE pathology, autonomic dysfunction, hallucinations and paranoia.
SY Parkinson disease 4 autosomal dominant Lewy body.
SY Parkinson disease autosomal dominant 4.
SY Parkinson disease familial type 4.
DR MIM; 605543; phenotype.
DR MedGen; C1854182.
DR MeSH; D010300.
KW KW-0523:Neurodegeneration.
KW KW-0907:Parkinson disease.
KW KW-0908:Parkinsonism.
//
ID Parkinson disease 5.
AC DI-02947
AR PARK5.
DE A complex neurodegenerative disorder with manifestations ranging from
DE typical Parkinson disease to dementia with Lewy bodies. Clinical
DE features include parkinsonian symptoms (resting tremor, rigidity,
DE postural instability and bradykinesia), dementia, diffuse Lewy body
DE pathology, autonomic dysfunction, hallucinations and paranoia.
SY Parkinson disease 5, autosomal dominant, susceptibility to.
SY Parkinson disease autosomal dominant 5.
DR MIM; 613643; phenotype.
DR MedGen; C3150899.
DR MeSH; D010300.
KW KW-0523:Neurodegeneration.
KW KW-0907:Parkinson disease.
KW KW-0908:Parkinsonism.
//
ID Parkinson disease 6.
AC DI-01239
AR PARK6.
DE An early-onset form of Parkinson disease, a neurodegenerative disorder
DE characterized by parkinsonian signs such as rigidity, resting tremor
DE and bradykinesia. A subset of patients manifest additional symptoms
DE including hyperreflexia, autonomic instability, dementia and
DE psychiatric disturbances. Symptoms show diurnal fluctuation and can
DE improve after sleep. PARK6 pathogenesis involves respiratory complex I
DE deficiency causing mitochondrial depolarization and dysfunction.
DE Inheritance is autosomal recessive.
SY Autosomal recessive early-onset Parkinson disease type 6.
SY Parkinson disease 6 early-onset.
SY Parkinson disease 6 late-onset susceptibility to.
SY Parkinson disease autosomal recessive early-onset digenic PINK1/DJ1.
SY Parkinsonism young adult onset.
DR MIM; 605909; phenotype.
DR MedGen; C1853833.
DR MedGen; C1970035.
DR MedGen; C2751533.
DR MeSH; D010300.
DR MeSH; D020734.
KW KW-0523:Neurodegeneration.
KW KW-0907:Parkinson disease.
KW KW-0908:Parkinsonism.
KW KW-1274:Primary mitochondrial disease.
//
ID Parkinson disease 7.
AC DI-01240
AR PARK7.
DE A neurodegenerative disorder characterized by resting tremor, postural
DE tremor, bradykinesia, muscular rigidity, anxiety and psychotic
DE episodes. PARK7 has onset before 40 years, slow progression and
DE initial good response to levodopa. Some patients may show traits
DE reminiscent of amyotrophic lateral sclerosis-parkinsonism/dementia
DE complex (Guam disease).
SY Amyotrophic lateral sclerosis-parkinsonism/dementia complex type 2.
SY Autosomal recessive early-onset Parkinson disease type 7.
DR MIM; 606324; phenotype.
DR MedGen; C1853445.
DR MeSH; D010300.
DR MeSH; D020734.
KW KW-0523:Neurodegeneration.
KW KW-0907:Parkinson disease.
KW KW-0908:Parkinsonism.
//
ID Parkinson disease 8.
AC DI-02136
AR PARK8.
DE A slowly progressive neurodegenerative disorder characterized by
DE bradykinesia, rigidity, resting tremor, postural instability, neuronal
DE loss in the substantia nigra, and the presence of neurofibrillary MAPT
DE (tau)-positive and Lewy bodies in some patients.
DR MIM; 607060; phenotype.
DR MedGen; C1846862.
DR MeSH; D010300.
KW KW-0523:Neurodegeneration.
KW KW-0907:Parkinson disease.
KW KW-0908:Parkinsonism.
//
ID Parkinson-dementia syndrome.
AC DI-03096
AR PARDE.
DE A syndrome characterized by parkinsonism, tremor, rigidity, dementia,
DE ophthalmoparesis and pyramidal signs. Neurofibrillary degeneration
DE occurs in the hippocampus, basal ganglia and brainstem nuclei.
SY Steele-Richardson-Olszewski syndrome atypical.
SY Supranuclear palsy progressive 1 atypical.
DR MIM; 260540; phenotype.
DR MedGen; C1850076.
DR MedGen; C1850077.
DR MedGen; C3151582.
DR MeSH; D013494.
KW KW-0523:Neurodegeneration.
KW KW-0908:Parkinsonism.
//
ID Parkinsonism with polyneuropathy.
AC DI-06084
AR PKNPY.
DE An autosomal dominant disorder characterized by late-onset, levodopa-
DE responsive parkinsonism with asymmetric tremor, rigidity and
DE bradykinesia. Patients also manifest a sensorimotor polyneuropathy
DE with variable degrees of distal legs and hands muscle atrophy and
DE weakness, and absent deep tendon reflexes.
DR MIM; 619279; phenotype.
DR MedGen; CN296412.
DR MeSH; D011115.
DR MeSH; D020734.
KW KW-0622:Neuropathy.
KW KW-0908:Parkinsonism.
//
ID Parkinsonism with spasticity, X-linked.
AC DI-03948
AR XPDS.
DE A syndrome characterized by parkinsonian features, such as cogwheel
DE rigidity, resting tremor and bradykinesia, and variably penetrant
DE spasticity.
DR MIM; 300911; phenotype.
DR MedGen; C3806722.
DR MedGen; CN181443.
DR MeSH; D019636.
DR MeSH; D020734.
KW KW-0523:Neurodegeneration.
KW KW-0908:Parkinsonism.
//
ID Parkinsonism-dystonia 1, infantile-onset.
AC DI-02782
AR PKDYS1.
DE An autosomal recessive neurodegenerative disorder characterized by
DE infantile onset of parkinsonism and dystonia. Other neurologic
DE features include global developmental delay, bradykinesia and
DE pyramidal tract signs.
SY Dopamine transporter deficiency syndrome.
SY DTDS.
SY Dystonia-parkinsonism infantile.
SY Parkinsonism-dystonia infantile.
SY PKDYS.
DR MIM; 613135; phenotype.
DR MedGen; C2751067.
DR MeSH; D004421.
DR MeSH; D020734.
KW KW-0523:Neurodegeneration.
KW KW-0908:Parkinsonism.
KW KW-1023:Dystonia.
//
ID Parkinsonism-dystonia 2, infantile-onset.
AC DI-05288
AR PKDYS2.
DE An autosomal recessive disorder characterized by infantile onset of
DE abnormal movements, including parkinsonism, dystonia, and poor fine
DE motor skills, as well as autonomic dysfunction, including abnormal
DE sweating, cold extremities, and poor sleep. Some patients have
DE variable degrees of developmental delay.
DR MIM; 618049; phenotype.
DR MedGen; CN248785.
DR MeSH; D004421.
DR MeSH; D020734.
KW KW-0908:Parkinsonism.
KW KW-1023:Dystonia.
//
ID Parkinsonism-dystonia 3, childhood-onset.
AC DI-06334
AR PKDYS3.
DE An autosomal recessive neurodegenerative disorder with onset in
DE infancy or early childhood. Affected individuals present with
DE progressive movement abnormalities, including parkinsonism with
DE tremor, dystonia, myoclonus ataxia, and hyperkinetic movements such as
DE ballismus. The parkinsonism features may be responsive to treatment
DE with levodopa, although many patients develop levodopa-induced
DE dyskinesia. Some patients may have mild cognitive impairment or
DE psychiatric disturbances.
DR MIM; 619738; phenotype.
DR MedGen; CN306512.
DR MeSH; D004421.
DR MeSH; D020734.
KW KW-0908:Parkinsonism.
KW KW-1023:Dystonia.
//
ID Paroxysmal extreme pain disorder.
AC DI-02140
AR PEPD.
DE Autosomal dominant paroxysmal disorder of pain and autonomic
DE dysfunction. The distinctive features are paroxysmal episodes of
DE burning pain in the rectal, ocular, and mandibular areas accompanied
DE by autonomic manifestations such as skin flushing.
SY Familial rectal pain.
SY FRP.
DR MIM; 167400; phenotype.
DR MedGen; C1833661.
//
ID Paroxysmal nocturnal hemoglobinuria 1.
AC DI-02141
AR PNH1.
DE A disorder characterized by hemolytic anemia with hemoglobinuria,
DE thromboses in large vessels, and a deficiency in hematopoiesis. Red
DE blood cell breakdown with release of hemoglobin into the urine is
DE manifested most prominently by dark-colored urine in the morning.
DR MIM; 300818; phenotype.
DR MedGen; C0024790.
DR MedGen; C3806670.
DR MeSH; D006457.
//
ID Paroxysmal nocturnal hemoglobinuria 2.
AC DI-03876
AR PNH2.
DE A disorder characterized by hemolytic anemia with hemoglobinuria,
DE thromboses in large vessels, and a deficiency in hematopoiesis. Red
DE blood cell breakdown with release of hemoglobin into the urine is
DE manifested most prominently by dark-colored urine in the morning.
DR MIM; 615399; phenotype.
DR MedGen; C3809369.
DR MedGen; CN179949.
DR MeSH; D006457.
//
ID Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy.
AC DI-00503
AR PNKD3.
DE An autosomal dominant neurologic disorder characterized by absence
DE seizures, generalized tonic-clonic seizures, paroxysmal nonkinesigenic
DE dyskinesia and involuntary dystonic or choreiform movements. Onset is
DE usually in childhood. Patients may have seizures only, dyskinesia
DE only, or both.
SY Generalized epilepsy and paroxysmal dyskinesia.
SY GEPD.
DR MIM; 609446; phenotype.
DR MedGen; C1836173.
DR MeSH; D002819.
DR MeSH; D004829.
KW KW-0887:Epilepsy.
//
ID Partial acquired lipodystrophy.
AC DI-02142
AR APLD.
DE A rare childhood disease characterized by loss of subcutaneous fat
DE from the face and trunk. Fat deposition on the pelvic girdle and lower
DE limbs is normal or excessive. Most frequently, onset between 5 and 15
DE years of age. Most affected subjects are females and some show no
DE other abnormality, but many develop glomerulonephritis, diabetes
DE mellitus, hyperlipidemia, and complement deficiency. Intellectual
DE disability in some cases. APLD is a sporadic disorder of unknown
DE etiology.
SY APL.
SY Barraquer-Simons syndrome.
SY Cephalothoracic type lipodystrophy.
SY Partial progressive lipodystrophy.
DR MIM; 608709; phenotype.
DR MedGen; C0220989.
//
ID Partington syndrome.
AC DI-02147
AR PRTS.
DE An X-linked developmental disorder characterized by intellectual
DE disability, episodic dystonic hand movements, lower limb spasticity,
DE and dysarthria.
SY Intellectual developmental disorder, X-linked, syndromic 1.
SY MRX36.
SY MRXS1.
DR MIM; 309510; phenotype.
DR MedGen; C0796250.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Patent ductus arteriosus 2.
AC DI-04762
AR PDA2.
DE A congenital heart defect characterized by the persistent opening of
DE fetal ductus arteriosus that fails to close after birth. Fetal ductus
DE arteriosus connects the pulmonary artery to the descending aorta,
DE allowing unoxygenated blood to bypass the lung and flow to the
DE placenta. Normally, the ductus occludes shortly after birth.
DR MIM; 617035; phenotype.
DR MedGen; CN237398.
DR MeSH; D004374.
//
ID Patent ductus arteriosus 3.
AC DI-04763
AR PDA3.
DE A congenital heart defect characterized by the persistent opening of
DE fetal ductus arteriosus that fails to close after birth. Fetal ductus
DE arteriosus connects the pulmonary artery to the descending aorta,
DE allowing unoxygenated blood to bypass the lung and flow to the
DE placenta. Normally, the ductus occludes shortly after birth.
DR MIM; 617039; phenotype.
DR MedGen; CN237402.
DR MeSH; D004374.
//
ID Peeling skin syndrome 1.
AC DI-03006
AR PSS1.
DE A genodermatosis characterized by generalized, continuous shedding of
DE the outer layers of the epidermis. Two main PSS subtypes have been
DE suggested. Patients with non-inflammatory PSS (type A) manifest white
DE scaling, with painless and easy removal of the skin, irritation when
DE in contact with water, dust and sand, and no history of erythema,
DE pruritis or atopy. Inflammatory PSS (type B) is associated with
DE generalized erythema, pruritus and atopy. It is an ichthyosiform
DE erythroderma characterized by lifelong patchy peeling of the entire
DE skin with onset at birth or shortly after. Several patients have been
DE reported with high IgE levels.
SY Deciduous skin.
SY Keratolysis exfoliativa congenita.
SY Peeling skin syndrome type B.
SY Skin peeling familial continuous generalized.
DR MIM; 270300; phenotype.
DR MedGen; C1849193.
DR MeSH; D003873.
//
ID Peeling skin syndrome 2.
AC DI-02148
AR PSS2.
DE A non-inflammatory and localized form of peeling skin syndrome, a
DE genodermatosis characterized by the continuous shedding of the outer
DE layers of the epidermis. In PSS2 patients, skin peeling is painless
DE and strictly limited to the dorsa of the hands and feet. It is
DE accompanied by painless erythema and spontaneous non-scarring healing.
DE Ultrastructural and histological analysis shows a level of blistering
DE high in the epidermis at the stratum granulosum-stratum corneum
DE junction.
SY Acral peeling skin syndrome.
SY APSS.
SY Peeling skin syndrome, acral type.
SY Peeling skin syndrome type A.
DR MIM; 609796; phenotype.
DR MedGen; C1853354.
DR MeSH; D003873.
//
ID Peeling skin syndrome 3.
AC DI-04350
AR PSS3.
DE A form of peeling skin syndrome, a genodermatosis characterized by
DE generalized, continuous shedding of the outer layers of the epidermis.
DE Two main PSS subtypes have been suggested. Patients with non-
DE inflammatory PSS (type A) manifest white scaling, with painless and
DE easy removal of the skin, irritation when in contact with water, dust
DE and sand, and no history of erythema, pruritis or atopy. Inflammatory
DE PSS (type B) is associated with generalized erythema, pruritus and
DE atopy. It is an ichthyosiform erythroderma characterized by lifelong
DE patchy peeling of the entire skin with onset at birth or shortly
DE after. Several patients have been reported with high IgE levels. PSS3
DE is characterized by generalized white scaling occurring over the upper
DE and lower extremities. Symptoms start during the second half of the
DE first decade of life.
DR MIM; 616265; phenotype.
DR MedGen; CN228565.
DR MeSH; D003873.
//
ID Peeling skin syndrome 4.
AC DI-03298
AR PSS4.
DE A genodermatosis characterized by congenital exfoliative ichthyosis,
DE sharing some features with ichthyosis bullosa of Siemens and annular
DE epidermolytic ichthyosis. PSS4 presents shortly after birth as dry,
DE scaly skin over most of the body with coarse peeling of non-
DE erythematous skin on the palms and soles, which is exacerbated by
DE excessive moisture and minor trauma. Electron microscopy analysis of
DE skin biopsies, reveals mostly normal-appearing upper layers of the
DE epidermis, but prominent intercellular edema of the basal and
DE suprabasal cell layers with aggregates of tonofilaments in the basal
DE keratinocytes.
SY AREI.
SY Exfoliative ichthyosis, autosomal recessive.
SY Exfoliative ichthyosis autosomal recessive IBS-like.
SY Ichthyosis, exfoliative, autosomal recessive, ichthyosis bullosa of Siemens-like.
DR MIM; 607936; phenotype.
DR MedGen; C1842797.
DR MeSH; D007057.
KW KW-0977:Ichthyosis.
//
ID Peeling skin syndrome 5.
AC DI-04833
AR PSS5.
DE A form of peeling skin syndrome, a genodermatosis characterized by
DE generalized, continuous shedding of the outer layers of the epidermis.
DE Two main PSS subtypes have been suggested. Patients with non-
DE inflammatory PSS (type A) manifest white scaling, with painless and
DE easy removal of the skin, irritation when in contact with water, dust
DE and sand, and no history of erythema, pruritis or atopy. Inflammatory
DE PSS (type B) is associated with generalized erythema, pruritus and
DE atopy. It is an ichthyosiform erythroderma characterized by lifelong
DE patchy peeling of the entire skin with onset at birth or shortly
DE after. Several patients have been reported with high IgE levels. PSS5
DE patients manifest hyperkeratosis and superficial peeling of areas of
DE the palmar and dorsal faces of hands and feet. Additional variable
DE features include erythema, superficial scaling of forearms and legs
DE and diffuse yellowish hyperkeratotic palmoplantar plaques. PSS5
DE inheritance is autosomal recessive.
DR MIM; 617115; phenotype.
DR MedGen; CN238490.
DR MeSH; D003873.
//
ID Peeling skin syndrome 6.
AC DI-05307
AR PSS6.
DE A form of peeling skin syndrome, a genodermatosis characterized by
DE generalized, continuous shedding of the outer layers of the epidermis.
DE Two main PSS subtypes have been suggested. Patients with non-
DE inflammatory PSS (type A) manifest white scaling, with painless and
DE easy removal of the skin, irritation when in contact with water, dust
DE and sand, and no history of erythema, pruritis or atopy. Inflammatory
DE PSS (type B) is associated with generalized erythema, pruritus and
DE atopy. It is an ichthyosiform erythroderma characterized by lifelong
DE patchy peeling of the entire skin with onset at birth or shortly
DE after. Several patients have been reported with high IgE levels. PSS6
DE patients manifest generalized ichthyotic dry skin, and bullous peeling
DE lesions on the trunk and limbs at sites of minor trauma. Skin symptoms
DE are exacerbated by warmth and humidity. PSS6 inheritance is autosomal
DE recessive.
DR MIM; 618084; phenotype.
DR MedGen; CN252690.
DR MeSH; D003873.
//
ID Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.
AC DI-04385
AR PLACK.
DE An autosomal recessive disease characterized by generalized,
DE continuous shedding of the outer layers of the epidermis, leukonychia,
DE acral punctate keratosis, cheilitis, knuckle pads with multiple
DE hyperkeratotic micropapules involving the interphalangeal joints, and
DE palmoplantar keratoderma.
DR MIM; 616295; phenotype.
DR MedGen; CN229493.
DR MeSH; D003873.
DR MeSH; D007645.
DR MeSH; D009260.
KW KW-1007:Palmoplantar keratoderma.
//
ID PEHO syndrome.
AC DI-04784
AR PEHO.
DE An autosomal recessive syndrome characterized by progressive
DE encephalopathy, lack of psychomotor development, severe intellectual
DE disability, early onset epileptic seizures, optic nerve/cerebellar
DE atrophy, pedal edema, and early death.
SY Infantile cerebellooptic atrophy.
SY Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy.
DR MIM; 260565; phenotype.
DR MedGen; C1850055.
DR MeSH; D001929.
DR MeSH; D009896.
DR MeSH; D013036.
DR MeSH; D019636.
KW KW-0523:Neurodegeneration.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID PEHO-like syndrome.
AC DI-05012
AR PEHOL.
DE An autosomal recessive syndrome characterized by microcephaly and
DE moderately severe hypotonia manifesting at birth, seizures that
DE progress into infantile spasms with hypsarrhythmia, brain atrophy with
DE bilateral polymicrogyria and pachygyria, thin corpus callosum, and
DE mild reduction in cerebellar vermis volume. Patients also display
DE optic atrophy, severe cognitive delay, puffiness of the maxillary
DE region of the face, and edema of the dorsum of the hands and feet.
SY PEHO syndrome-like.
DR MIM; 617507; phenotype.
DR MedGen; C1850056.
DR MeSH; D009421.
DR MeSH; D009896.
DR MeSH; D013036.
KW KW-0523:Neurodegeneration.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Pelger-Huet anomaly.
AC DI-02149
AR PHA.
DE An autosomal dominant inherited abnormality of granulocytes,
DE characterized by abnormal ovoid shape, reduced nuclear segmentation
DE and an apparently looser chromatin structure.
DR MIM; 169400; phenotype.
DR MedGen; C0030779.
DR MeSH; D010381.
//
ID Pelger-Huet anomaly with mild skeletal anomalies.
AC DI-05279
AR PHASK.
DE A disease characterized by abnormal nuclear shape and chromatin
DE organization in blood granulocytes, short stature, and mild skeletal
DE anomalies. Initial skeletal features may improve with age.
SY Regressive spondylometaphyseal dysplasia.
DR MIM; 618019; phenotype.
DR MedGen; CN248525.
DR MeSH; D010009.
DR MeSH; D010381.
KW KW-0242:Dwarfism.
//
ID Pelizaeus-Merzbacher disease.
AC DI-00903
AR PMD.
DE An X-linked recessive hypomyelinating disorder of the central nervous
DE system in which myelin is not formed properly. PMD is characterized
DE clinically by nystagmus, spastic quadriplegia, ataxia, and
DE developmental delay.
SY HLD1.
SY Leukodystrophy hypomyelinating 1.
DR MIM; 312080; phenotype.
DR MedGen; C0205711.
DR MeSH; D020371.
//
ID Pendred syndrome.
AC DI-00905
AR PDS.
DE An autosomal recessive disorder characterized by congenital
DE sensorineural hearing loss in association with thyroid goiter. The
DE disorder may account for up to 10% of the cases of hereditary
DE deafness. The deafness is most often associated with a Mondini
DE cochlear defect. Deafness occurs early, starting at birth or during
DE the first years of life. It is bilateral, sometimes asymmetrical,
DE fluctuant and often progressive. Thyroid perturbations, such as
DE thyroid goiter and/or hypothyroidism appear most commonly during
DE adolescence, but they can be congenital or appear later.
SY Deafness with goiter.
SY Goiter-deafness syndrome.
SY TDH2B.
SY Thyroid dyshormonogenesis 2B.
DR MIM; 274600; phenotype.
DR MedGen; C0271829.
DR MeSH; D006042.
KW KW-0209:Deafness.
//
ID Pentosuria.
AC DI-04062
AR PNTSU.
DE An inborn error of metabolism characterized by excessive urinary
DE excretion of L-xylulose.
SY L-xylulose reductase deficiency.
SY L-xylulosuria.
SY Xylitol dehydrogenase deficiency.
DR MIM; 260800; phenotype.
DR MedGen; C0268162.
//
ID Perching syndrome.
AC DI-04779
AR PERCHING.
DE An autosomal recessive multisystem disorder characterized by global
DE developmental delay, dysmorphic facial features, feeding and
DE respiratory difficulties with poor overall growth, axial hypotonia,
DE and joint contractures. The features are variable, even within
DE families, and may also include retinitis pigmentosa, cardiac or
DE genitourinary anomalies, and abnormal sweating.
SY CISS3.
SY Crisponi/Cold-induced sweating syndrome 3.
DR MIM; 617055; phenotype.
DR MedGen; CN237811.
DR MeSH; D000015.
DR MeSH; D006945.
//
ID Periodic fever, familial, autosomal dominant.
AC DI-00491
AR FPF.
DE A hereditary periodic fever syndrome characterized by recurrent fever,
DE abdominal pain, localized tender skin lesions and myalgia. Reactive
DE amyloidosis is the main complication and occurs in 25% of cases.
SY Caledonian fever.
SY Familial hibernian fever.
SY FHF.
SY TNF receptor-associated periodic syndrome.
SY TRAPS.
SY Tumor necrosis factor receptor-associated periodic syndrome.
DR MIM; 142680; phenotype.
DR MedGen; C1275126.
DR MeSH; D056660.
KW KW-1008:Amyloidosis.
//
ID Periodic fever, immunodeficiency, and thrombocytopenia syndrome.
AC DI-05881
AR PFITS.
DE An immunologic disorder with variable manifestations including early-
DE onset recurrent respiratory infections, stomatitis, cutaneous
DE infections, and neutropenia.
SY Lazy leukocyte syndrome.
DR MIM; 150550; phenotype.
DR MedGen; C0272174.
DR MeSH; D007153.
//
ID Periodic fever, menstrual cycle-dependent.
AC DI-03472
AR PFMC.
DE A condition characterized by recurrent fevers up to 40 degrees Celsius
DE associated with the luteal phase of the menstrual cycle. Women show
DE menstrual cycle-dependent physiologic changes in relation to sex
DE hormone levels. Because ovulation triggers a significant change in the
DE hormonal milieu that is similar to local inflammation, a 0.5 to 1.0
DE degree Celsius increase in basal body temperature after ovulation is
DE commonly associated with progesterone secretion and is believed to be
DE triggered by the induction of several inflammatory cytokines.
DR MIM; 614674; phenotype.
DR MedGen; C3553418.
DR MedGen; CN128715.
DR MeSH; D056660.
//
ID Periodic paralysis hyperkalemic.
AC DI-00906
AR HYPP.
DE An autosomal dominant channelopathy characterized by episodic flaccid
DE generalized muscle weakness associated with high levels of serum
DE potassium. Concurrence of myotonia is found in HYPP patients.
SY Adynamia episodica hereditaria with or without myotonia.
SY Gamstorp disease.
DR MIM; 170500; phenotype.
DR MedGen; C0238357.
DR MedGen; C2930895.
DR MedGen; CN074266.
DR MeSH; D020513.
//
ID Periodic paralysis hypokalemic 1.
AC DI-00907
AR HOKPP1.
DE An autosomal dominant disorder manifested by episodic flaccid
DE generalized muscle weakness associated with falls of serum potassium
DE levels.
SY HOKPP.
SY HYPOPP.
SY Westphall disease.
DR MIM; 170400; phenotype.
DR MedGen; C0238358.
DR MedGen; CN031165.
DR MeSH; D020514.
//
ID Periodic paralysis hypokalemic 2.
AC DI-02768
AR HOKPP2.
DE An autosomal dominant disorder manifested by episodic flaccid
DE generalized muscle weakness associated with falls of serum potassium
DE levels.
DR MIM; 613345; phenotype.
DR MedGen; C2750061.
DR MeSH; D020514.
//
ID Periodic paralysis normokalemic.
AC DI-00908
AR NKPP.
DE A disorder closely related to hyperkalemic periodic paralysis, but
DE marked by a lack of alterations in potassium levels during attacks of
DE muscle weakness.
SY Periodic paralysis eukalemic.
DR MIM; 170500; phenotype.
DR MedGen; C1868433.
DR MeSH; D020513.
//
ID Periodontititis, aggressive, 1.
AC DI-01853
AR AP1.
DE A disease characterized by severe and protracted gingival infections,
DE generalized or localized, leading to tooth loss. Amounts of microbial
DE deposits are generally inconsistent with the severity of periodontal
DE tissue destruction and the progression of attachment and bone loss may
DE be self arresting.
SY JPD.
SY Juvenile periodontitis.
SY PPP.
SY Prepubertal periodontitis.
DR MIM; 170650; phenotype.
DR MedGen; C0031106.
DR MeSH; D010520.
//
ID Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease.
AC DI-00909
AR PCWH.
DE A complex neurocristopathy that includes features of 4 distinct
DE syndromes: peripheral demyelinating neuropathy, central dysmyelinating
DE leukodystrophy, Waardenburg syndrome and Hirschsprung disease.
SY Waardenburg-Shah syndrome neurologic variant.
DR MIM; 609136; phenotype.
DR MedGen; C1836727.
DR MeSH; D006627.
DR MeSH; D011115.
DR MeSH; D014849.
KW KW-0209:Deafness.
KW KW-0367:Hirschsprung disease.
KW KW-0897:Waardenburg syndrome.
//
ID Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development.
AC DI-05337
AR PNRIID.
DE An autosomal recessive disorder characterized by early childhood-onset
DE of peripheral sensorimotor neuropathy, progressive distal muscle
DE weakness, atrophy in hands and feet, and gait difficulties, often with
DE loss of ambulation. Most affected individuals also have impaired
DE intellectual development, although some have normal cognition.
DE Additional features may include eye movement abnormalities, claw
DE hands, foot deformities, and scoliosis.
DR MIM; 618124; phenotype.
DR MedGen; CN253838.
DR MeSH; D008607.
DR MeSH; D015417.
KW KW-0622:Neuropathy.
KW KW-0991:Intellectual disability.
//
ID Peripheral neuropathy, myopathy, hoarseness, and hearing loss.
AC DI-03320
AR PNMHH.
DE A complex phenotype of progressive peripheral neuropathy and distal
DE myopathy, with later onset of hoarseness and hearing loss. Affected
DE individuals develop distal muscle weakness at a mean age of 10.6
DE years, followed by progressive atrophy of these muscles. The lower
DE limbs are more severely affected than the upper limbs, and the muscle
DE weakness first affects anterior leg muscles and later posterior leg
DE muscles.
DR MIM; 614369; phenotype.
DR MedGen; C3280556.
DR MeSH; D010523.
KW KW-0209:Deafness.
KW KW-0622:Neuropathy.
//
ID Periventricular nodular heterotopia 1.
AC DI-00910
AR PVNH1.
DE A developmental disorder characterized by the presence of
DE periventricular nodules of cerebral gray matter, resulting from a
DE failure of neurons to migrate normally from the lateral ventricular
DE proliferative zone, where they are formed, to the cerebral cortex.
DE PVNH1 is an X-linked dominant form. Heterozygous females have normal
DE intelligence but suffer from seizures and various manifestations
DE outside the central nervous system, especially related to the vascular
DE system. Hemizygous affected males die in the prenatal or perinatal
DE period.
SY BPNH.
SY Familial nodular heterotopia.
SY NHBP.
SY Nodular heterotopia bilateral periventricular.
SY Periventricular heterotopia Ehlers-Danlos variant.
SY Periventricular heterotopia X-linked dominant.
SY Periventricular nodular heterotopia 4.
SY PVNH4.
DR MIM; 300049; phenotype.
DR MedGen; C1845235.
DR MedGen; C1848213.
DR MedGen; C1848214.
DR MeSH; D054091.
//
ID Periventricular nodular heterotopia 2.
AC DI-00911
AR PVNH2.
DE A developmental disorder characterized by the presence of
DE periventricular nodules of cerebral gray matter, resulting from a
DE failure of neurons to migrate normally from the lateral ventricular
DE proliferative zone, where they are formed, to the cerebral cortex.
DE PVNH2 is an autosomal recessive form characterized by microcephaly
DE (small brain), severe developmental delay and recurrent infections. No
DE anomalies extrinsic to the central nervous system, such as dysmorphic
DE features or grossly abnormal endocrine or other conditions, are
DE associated with PVNH2.
SY ARPHM.
SY Autosomal recessive periventricular nodular heterotopia type 2.
SY Periventricular heterotopia autosomal recessive.
SY Periventricular heterotopia with microcephaly autosomal recessive.
DR MIM; 608097; phenotype.
DR MedGen; C1842563.
DR MeSH; D054091.
//
ID Periventricular nodular heterotopia 6.
AC DI-03958
AR PVNH6.
DE A form of periventricular nodular heterotopia, a disorder resulting
DE from a defect in the pattern of neuronal migration in which ectopic
DE collections of neurons lie along the lateral ventricles of the brain
DE or just beneath, contiguously or in isolated patches. PVNH6 results in
DE delayed psychomotor development, delayed speech, strabismus, and onset
DE of seizures with hypsarrhythmia in early infancy.
DR MIM; 615544; phenotype.
DR MedGen; C3809872.
DR MedGen; CN181758.
DR MeSH; D054091.
//
ID Periventricular nodular heterotopia 7.
AC DI-04867
AR PVNH7.
DE A form of periventricular nodular heterotopia, a disorder resulting
DE from a defect in the pattern of neuronal migration in which ectopic
DE collections of neurons lie along the lateral ventricles of the brain
DE or just beneath, contiguously or in isolated patches. PVNH7 is an
DE autosomal dominant disease characterized by delayed psychomotor
DE development, intellectual disability, and seizures in some patients.
DE Additional features include cleft palate and toe syndactyly.
DR MIM; 617201; phenotype.
DR MedGen; CN239092.
DR MeSH; D054091.
//
ID Periventricular nodular heterotopia 8.
AC DI-05385
AR PVNH8.
DE A form of periventricular nodular heterotopia, a disorder resulting
DE from a defect in the pattern of neuronal migration in which ectopic
DE collections of neurons lie along the lateral ventricles of the brain
DE or just beneath, contiguously or in isolated patches. PVNH8 is an
DE autosomal dominant disease characterized by developmental
DE disabilities, speech delay, seizures and attention deficit
DE hyperactivity disorder.
DR MIM; 618185; phenotype.
DR MedGen; CN257784.
DR MeSH; D054091.
//
ID Periventricular nodular heterotopia 9.
AC DI-05862
AR PVNH9.
DE A form of periventricular nodular heterotopia, a disorder resulting
DE from a defect in the pattern of neuronal migration in which ectopic
DE collections of neurons lie along the lateral ventricles of the brain
DE or just beneath, contiguously or in isolated patches. PVNH9 is an
DE autosomal dominant disorder with incomplete penetrance, characterized
DE by impaired intellectual development, cognitive defects, learning
DE disabilities, and behavior abnormalities. Some patients develop
DE seizures.
DR MIM; 618918; phenotype.
DR MeSH; D054091.
//
ID Perlman syndrome.
AC DI-03413
AR PRLMNS.
DE An autosomal recessive congenital overgrowth syndrome. Affected
DE children are large at birth, are hypotonic, and show organomegaly,
DE characteristic facial dysmorphisms (inverted V-shaped upper lip,
DE prominent forehead, deep-set eyes, broad and flat nasal bridge, and
DE low-set ears), renal anomalies (nephromegaly and hydronephrosis),
DE frequent neurodevelopmental delay, and high neonatal mortality.
DE Perlman syndrome is associated with a high risk of Wilms tumor.
DE Histologic examination of the kidneys in affected children shows
DE frequent nephroblastomatosis, which is a precursor lesion for Wilms
DE tumor.
SY Nephroblastomatosis fetal ascites macrosomia and Wilms tumor.
SY Renal hamartomas nephroblastomatosis and fetal gigantism.
DR MIM; 267000; phenotype.
DR MedGen; C0796113.
DR MeSH; D005320.
DR MeSH; D007680.
//
ID Peroxisomal fatty acyl-CoA reductase 1 disorder.
AC DI-04305
AR PFCRD.
DE An autosomal recessive metabolic disorder clinically characterized by
DE severe intellectual disability, early-onset epilepsy, microcephaly,
DE congenital cataracts, growth retardation, and spasticity.
DR MIM; 616154; phenotype.
DR MedGen; CN224982.
DR MeSH; D018901.
KW KW-0887:Epilepsy.
KW KW-0898:Cataract.
KW KW-0991:Intellectual disability.
//
ID Peroxisome biogenesis disorder 10A.
AC DI-03592
AR PBD10A.
DE A fatal peroxisome biogenesis disorder belonging to the Zellweger
DE disease spectrum and clinically characterized by severe neurologic
DE dysfunction with profound psychomotor retardation, severe hypotonia
DE and neonatal seizures, craniofacial abnormalities, liver dysfunction,
DE and biochemically by the absence of peroxisomes. Additional features
DE include cardiovascular and skeletal defects, renal cysts, ocular
DE abnormalities, and hearing impairment. Most severely affected
DE individuals with the classic form of the disease (classic Zellweger
DE syndrome) die within the first year of life.
SY Peroxisome biogenesis disorder 10A (Zellweger).
DR MIM; 614882; phenotype.
DR MedGen; C3553999.
DR MedGen; CN159239.
DR MeSH; D015211.
KW KW-0861:Zellweger syndrome.
//
ID Peroxisome biogenesis disorder 10B.
AC DI-04964
AR PBD10B.
DE A moderately severe peroxisome biogenesis disorder belonging to the
DE Zellweger disease spectrum. PBD10B is characterized by neonatal
DE jaundice, dysmorphic features, delayed psychomotor development, axial
DE hypotonia that can progress to severe spastic paraparesis with
DE hyperreflexia, nephrocalcinosis, neurogenic bladder, nystagmus, and
DE cataracts. Laboratory studies show increased levels of very long-chain
DE fatty acids. Inheritance is autosomal recessive.
DR MIM; 617370; phenotype.
DR MedGen; CN240842.
DR MeSH; D052919.
KW KW-0958:Peroxisome biogenesis disorder.
//
ID Peroxisome biogenesis disorder 11A.
AC DI-03593
AR PBD11A.
DE A fatal peroxisome biogenesis disorder belonging to the Zellweger
DE disease spectrum and clinically characterized by severe neurologic
DE dysfunction with profound psychomotor retardation, severe hypotonia
DE and neonatal seizures, craniofacial abnormalities, liver dysfunction,
DE and biochemically by the absence of peroxisomes. Additional features
DE include cardiovascular and skeletal defects, renal cysts, ocular
DE abnormalities, and hearing impairment. Most severely affected
DE individuals with the classic form of the disease (classic Zellweger
DE syndrome) die within the first year of life.
SY Peroxisome biogenesis disorder 11A (Zellweger).
DR MIM; 614883; phenotype.
DR MedGen; C3554000.
DR MedGen; CN159240.
DR MeSH; D015211.
KW KW-0861:Zellweger syndrome.
//
ID Peroxisome biogenesis disorder 11B.
AC DI-03594
AR PBD11B.
DE A peroxisome biogenesis disorder that includes neonatal
DE adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two
DE milder manifestations of the Zellweger disease spectrum. The clinical
DE course of patients with the NALD and IRD presentation is variable and
DE may include developmental delay, hypotonia, liver dysfunction,
DE sensorineural hearing loss, retinal dystrophy and vision impairment.
DE Children with the NALD presentation may reach their teens, while
DE patients with the IRD presentation may reach adulthood. The clinical
DE conditions are often slowly progressive in particular with respect to
DE loss of hearing and vision. The biochemical abnormalities include
DE accumulation of phytanic acid, very long chain fatty acids (VLCFA),
DE di- and trihydroxycholestanoic acid and pipecolic acid.
SY Peroxisome biogenesis disorder 11B (NALD/IRD).
SY Peroxisome biogenesis disorder 11B (neonatal adrenoleukodystrophy/infantile Refsum disease).
DR MIM; 614885; phenotype.
DR MedGen; C3554001.
DR MedGen; CN159241.
DR MeSH; D052919.
KW KW-0958:Peroxisome biogenesis disorder.
//
ID Peroxisome biogenesis disorder 12A.
AC DI-03595
AR PBD12A.
DE A fatal peroxisome biogenesis disorder belonging to the Zellweger
DE disease spectrum and clinically characterized by severe neurologic
DE dysfunction with profound psychomotor retardation, severe hypotonia
DE and neonatal seizures, craniofacial abnormalities, liver dysfunction,
DE and biochemically by the absence of peroxisomes. Additional features
DE include cardiovascular and skeletal defects, renal cysts, ocular
DE abnormalities, and hearing impairment. Most severely affected
DE individuals with the classic form of the disease (classic Zellweger
DE syndrome) die within the first year of life.
SY Peroxisome biogenesis disorder 12A (Zellweger).
DR MIM; 614886; phenotype.
DR MedGen; C3554002.
DR MedGen; CN159242.
DR MeSH; D015211.
KW KW-0861:Zellweger syndrome.
//
ID Peroxisome biogenesis disorder 13A.
AC DI-03596
AR PBD13A.
DE A fatal peroxisome biogenesis disorder belonging to the Zellweger
DE disease spectrum and clinically characterized by severe neurologic
DE dysfunction with profound psychomotor retardation, severe hypotonia
DE and neonatal seizures, craniofacial abnormalities, liver dysfunction,
DE and biochemically by the absence of peroxisomes. Additional features
DE include cardiovascular and skeletal defects, renal cysts, ocular
DE abnormalities, and hearing impairment. Most severely affected
DE individuals with the classic form of the disease (classic Zellweger
DE syndrome) die within the first year of life.
SY Peroxisome biogenesis disorder 13A (Zellweger).
DR MIM; 614887; phenotype.
DR MedGen; C3554004.
DR MedGen; CN159243.
DR MeSH; D015211.
KW KW-0861:Zellweger syndrome.
//
ID Peroxisome biogenesis disorder 14B.
AC DI-03597
AR PBD14B.
DE An autosomal recessive peroxisome biogenesis disorder characterized
DE clinically by mild intellectual disability, congenital cataracts,
DE progressive hearing loss, and polyneuropathy. Additionally, recurrent
DE migraine-like episodes following mental stress or physical exertion,
DE not a common feature in peroxisome disorders, are observed.
DR MIM; 614920; phenotype.
DR MedGen; C3554055.
DR MedGen; CN160486.
DR MeSH; D018901.
KW KW-0958:Peroxisome biogenesis disorder.
//
ID Peroxisome biogenesis disorder 1A.
AC DI-00800
AR PBD1A.
DE A fatal peroxisome biogenesis disorder belonging to the Zellweger
DE disease spectrum. PBD1A is an autosomal recessive systemic disorder
DE characterized clinically by severe neurologic dysfunction with
DE profound psychomotor retardation, severe hypotonia and neonatal
DE seizures, craniofacial abnormalities, liver dysfunction, and
DE biochemically by the absence of peroxisomes. Additional features
DE include cardiovascular and skeletal defects, renal cysts, ocular
DE abnormalities, and hearing impairment. Most severely affected
DE individuals with the classic form of the disease (classic Zellweger
DE syndrome) die within the first year of life.
SY Cerebrohepatorenal syndrome.
SY Cerebro-hepato-renal syndrome.
SY CHR syndrome.
SY Peroxisome biogenesis disorder 1A (Zellweger).
SY Zellweger's syndrome.
SY Zellweger syndrome.
SY ZS.
SY ZWS.
DR MIM; 214100; phenotype.
DR MedGen; C0043459.
DR MeSH; D015211.
KW KW-0861:Zellweger syndrome.
//
ID Peroxisome biogenesis disorder 1B.
AC DI-03577
AR PBD1B.
DE A peroxisome biogenesis disorder that includes neonatal
DE adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two
DE milder manifestations of the Zellweger disease spectrum. The clinical
DE course of patients with the NALD and IRD presentation is variable and
DE may include developmental delay, hypotonia, liver dysfunction,
DE sensorineural hearing loss, retinal dystrophy and vision impairment.
DE Children with the NALD presentation may reach their teens, while
DE patients with the IRD presentation may reach adulthood. The clinical
DE conditions are often slowly progressive in particular with respect to
DE loss of hearing and vision. The biochemical abnormalities include
DE accumulation of phytanic acid, very long chain fatty acids (VLCFA),
DE di- and trihydroxycholestanoic acid and pipecolic acid.
SY Autosomal neonatal adrenoleukodystrophy.
SY Infantile phytanic acid storage disease.
SY Infantile Refsum disease.
SY Peroxisome biogenesis disorder (NALD/IRD).
SY Peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile Refsum disease).
SY Peroxisome biogenesis disorder 1B (NALD/IRD).
DR MIM; 601539; phenotype.
DR MedGen; CN168921.
DR MeSH; D052919.
KW KW-0958:Peroxisome biogenesis disorder.
//
ID Peroxisome biogenesis disorder 2A.
AC DI-03579
AR PBD2A.
DE A fatal peroxisome biogenesis disorder belonging to the Zellweger
DE disease spectrum and characterized clinically by severe neurologic
DE dysfunction with profound psychomotor retardation, severe hypotonia
DE and neonatal seizures, craniofacial abnormalities, liver dysfunction,
DE and biochemically by the absence of peroxisomes. Additional features
DE include cardiovascular and skeletal defects, renal cysts, ocular
DE abnormalities, and hearing impairment. Most severely affected
DE individuals with the classic form of the disease (classic Zellweger
DE syndrome) die within the first year of life.
SY Peroxisome biogenesis disorder 2A (Zellweger).
DR MIM; 214110; phenotype.
DR MedGen; C1859228.
DR MedGen; C3550273.
DR MeSH; D015211.
KW KW-0861:Zellweger syndrome.
//
ID Peroxisome biogenesis disorder 2B.
AC DI-00048
AR PBD2B.
DE A peroxisome biogenesis disorder that includes neonatal
DE adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two
DE milder manifestations of the Zellweger disease spectrum. The clinical
DE course of patients with the NALD and IRD presentation is variable and
DE may include developmental delay, hypotonia, liver dysfunction,
DE sensorineural hearing loss, retinal dystrophy and vision impairment.
DE Children with the NALD presentation may reach their teens, while
DE patients with the IRD presentation may reach adulthood. The clinical
DE conditions are often slowly progressive in particular with respect to
DE loss of hearing and vision. The biochemical abnormalities include
DE accumulation of phytanic acid, very long chain fatty acids (VLCFA),
DE di- and trihydroxycholestanoic acid and pipecolic acid.
SY Peroxisome biogenesis disorder 2B (NALD/IRD).
SY Peroxisome biogenesis disorder 2B (neonatal adrenoleukodystrophy/infantile Refsum disease).
DR MIM; 202370; phenotype.
DR MedGen; C0282525.
DR MedGen; C3550234.
DR MeSH; D052919.
KW KW-0958:Peroxisome biogenesis disorder.
//
ID Peroxisome biogenesis disorder 3A.
AC DI-03580
AR PBD3A.
DE A fatal peroxisome biogenesis disorder belonging to the Zellweger
DE disease spectrum and clinically characterized by severe neurologic
DE dysfunction with profound psychomotor retardation, severe hypotonia
DE and neonatal seizures, craniofacial abnormalities, liver dysfunction,
DE and biochemically by the absence of peroxisomes. Additional features
DE include cardiovascular and skeletal defects, renal cysts, ocular
DE abnormalities, and hearing impairment. Most severely affected
DE individuals with the classic form of the disease (classic Zellweger
DE syndrome) die within the first year of life.
SY Peroxisome biogenesis disorder 3A (Zellweger).
DR MIM; 614859; phenotype.
DR MedGen; C3553929.
DR MedGen; CN159227.
DR MeSH; D015211.
KW KW-0861:Zellweger syndrome.
//
ID Peroxisome biogenesis disorder 3B.
AC DI-00598
AR PBD3B.
DE A peroxisome biogenesis disorder that includes neonatal
DE adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two
DE milder manifestations of the Zellweger disease spectrum. The clinical
DE course of patients with the NALD and IRD presentation is variable and
DE may include developmental delay, hypotonia, liver dysfunction,
DE sensorineural hearing loss, retinal dystrophy and vision impairment.
DE Children with the NALD presentation may reach their teens, while
DE patients with the IRD presentation may reach adulthood. The clinical
DE conditions are often slowly progressive in particular with respect to
DE loss of hearing and vision. The biochemical abnormalities include
DE accumulation of phytanic acid, very long chain fatty acids (VLCFA),
DE di- and trihydroxycholestanoic acid and pipecolic acid.
SY Peroxisome biogenesis disorder 3B (NALD/IRD).
SY Peroxisome biogenesis disorder 3B (neonatal adrenoleukodystrophy/infantile Refsum disease).
DR MIM; 266510; phenotype.
DR MedGen; C3550693.
DR MeSH; D052919.
KW KW-0958:Peroxisome biogenesis disorder.
//
ID Peroxisome biogenesis disorder 4A.
AC DI-03581
AR PBD4A.
DE A fatal peroxisome biogenesis disorder belonging to the Zellweger
DE disease spectrum and clinically characterized by severe neurologic
DE dysfunction with profound psychomotor retardation, severe hypotonia
DE and neonatal seizures, craniofacial abnormalities, liver dysfunction,
DE and biochemically by the absence of peroxisomes. Additional features
DE include cardiovascular and skeletal defects, renal cysts, ocular
DE abnormalities, and hearing impairment. Most severely affected
DE individuals with the classic form of the disease (classic Zellweger
DE syndrome) die within the first year of life.
SY Peroxisome biogenesis disorder 4A (Zellweger).
DR MIM; 614862; phenotype.
DR MedGen; C3553936.
DR MedGen; CN159228.
DR MeSH; D015211.
KW KW-0861:Zellweger syndrome.
//
ID Peroxisome biogenesis disorder 4B.
AC DI-03582
AR PBD4B.
DE A peroxisome biogenesis disorder that includes neonatal
DE adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two
DE milder manifestations of the Zellweger disease spectrum. The clinical
DE course of patients with the NALD and IRD presentation is variable and
DE may include developmental delay, hypotonia, liver dysfunction,
DE sensorineural hearing loss, retinal dystrophy and vision impairment.
DE Children with the NALD presentation may reach their teens, while
DE patients with the IRD presentation may reach adulthood. The clinical
DE conditions are often slowly progressive in particular with respect to
DE loss of hearing and vision. The biochemical abnormalities include
DE accumulation of phytanic acid, very long chain fatty acids (VLCFA),
DE di- and trihydroxycholestanoic acid and pipecolic acid.
SY Peroxisome biogenesis disorder 4B (NALD/IRD).
SY Peroxisome biogenesis disorder 4B (neonatal adrenoleukodystrophy/infantile Refsum disease).
DR MIM; 614863; phenotype.
DR MedGen; C3553937.
DR MedGen; CN159229.
DR MeSH; D052919.
KW KW-0958:Peroxisome biogenesis disorder.
//
ID Peroxisome biogenesis disorder 5A.
AC DI-03583
AR PBD5A.
DE A fatal peroxisome biogenesis disorder belonging to the Zellweger
DE disease spectrum and clinically characterized by severe neurologic
DE dysfunction with profound psychomotor retardation, severe hypotonia
DE and neonatal seizures, craniofacial abnormalities, liver dysfunction,
DE and biochemically by the absence of peroxisomes. Additional features
DE include cardiovascular and skeletal defects, renal cysts, ocular
DE abnormalities, and hearing impairment. Most severely affected
DE individuals with the classic form of the disease (classic Zellweger
DE syndrome) die within the first year of life.
SY Peroxisome biogenesis disorder 5A (Zellweger).
DR MIM; 614866; phenotype.
DR MedGen; C3553940.
DR MedGen; CN159230.
DR MeSH; D015211.
KW KW-0861:Zellweger syndrome.
//
ID Peroxisome biogenesis disorder 5B.
AC DI-03584
AR PBD5B.
DE A peroxisome biogenesis disorder that includes neonatal
DE adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two
DE milder manifestations of the Zellweger disease spectrum. The clinical
DE course of patients with the NALD and IRD presentation is variable and
DE may include developmental delay, hypotonia, liver dysfunction,
DE sensorineural hearing loss, retinal dystrophy and vision impairment.
DE Children with the NALD presentation may reach their teens, while
DE patients with the IRD presentation may reach adulthood. The clinical
DE conditions are often slowly progressive in particular with respect to
DE loss of hearing and vision. The biochemical abnormalities include
DE accumulation of phytanic acid, very long chain fatty acids (VLCFA),
DE di- and trihydroxycholestanoic acid and pipecolic acid.
SY Peroxisome biogenesis disorder 5B (NALD/IRD).
SY Peroxisome biogenesis disorder 5B (neonatal adrenoleukodystrophy/infantile Refsum disease).
DR MIM; 614867; phenotype.
DR MedGen; C3542026.
DR MedGen; CN159231.
DR MeSH; D052919.
KW KW-0958:Peroxisome biogenesis disorder.
//
ID Peroxisome biogenesis disorder 6A.
AC DI-03585
AR PBD6A.
DE A fatal peroxisome biogenesis disorder belonging to the Zellweger
DE disease spectrum and clinically characterized by severe neurologic
DE dysfunction with profound psychomotor retardation, severe hypotonia
DE and neonatal seizures, craniofacial abnormalities, liver dysfunction,
DE and biochemically by the absence of peroxisomes. Additional features
DE include cardiovascular and skeletal defects, renal cysts, ocular
DE abnormalities, and hearing impairment. Most severely affected
DE individuals with the classic form of the disease (classic Zellweger
DE syndrome) die within the first year of life.
SY Peroxisome biogenesis disorder 6A (Zellweger).
DR MIM; 614870; phenotype.
DR MedGen; C3553947.
DR MedGen; CN159232.
DR MeSH; D015211.
KW KW-0861:Zellweger syndrome.
//
ID Peroxisome biogenesis disorder 6B.
AC DI-03586
AR PBD6B.
DE A peroxisome biogenesis disorder that includes neonatal
DE adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two
DE milder manifestations of the Zellweger disease spectrum. The clinical
DE course of patients with the NALD and IRD presentation is variable and
DE may include developmental delay, hypotonia, liver dysfunction,
DE sensorineural hearing loss, retinal dystrophy and vision impairment.
DE Children with the NALD presentation may reach their teens, while
DE patients with the IRD presentation may reach adulthood. The clinical
DE conditions are often slowly progressive in particular with respect to
DE loss of hearing and vision. The biochemical abnormalities include
DE accumulation of phytanic acid, very long chain fatty acids (VLCFA),
DE di- and trihydroxycholestanoic acid and pipecolic acid.
SY Peroxisome biogenesis disorder 6B (NALD/IRD).
SY Peroxisome biogenesis disorder 6B (neonatal adrenoleukodystrophy/infantile Refsum disease).
DR MIM; 614871; phenotype.
DR MedGen; C3553948.
DR MedGen; CN159233.
DR MeSH; D052919.
KW KW-0958:Peroxisome biogenesis disorder.
//
ID Peroxisome biogenesis disorder 7A.
AC DI-03587
AR PBD7A.
DE A fatal peroxisome biogenesis disorder belonging to the Zellweger
DE disease spectrum and clinically characterized by severe neurologic
DE dysfunction with profound psychomotor retardation, severe hypotonia
DE and neonatal seizures, craniofacial abnormalities, liver dysfunction,
DE and biochemically by the absence of peroxisomes. Additional features
DE include cardiovascular and skeletal defects, renal cysts, ocular
DE abnormalities, and hearing impairment. Most severely affected
DE individuals with the classic form of the disease (classic Zellweger
DE syndrome) die within the first year of life.
SY Peroxisome biogenesis disorder 7A (Zellweger).
DR MIM; 614872; phenotype.
DR MedGen; C3553949.
DR MedGen; CN159234.
DR MeSH; D015211.
KW KW-0861:Zellweger syndrome.
//
ID Peroxisome biogenesis disorder 7B.
AC DI-03588
AR PBD7B.
DE A peroxisome biogenesis disorder that includes neonatal
DE adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two
DE milder manifestations of the Zellweger disease spectrum. The clinical
DE course of patients with the NALD and IRD presentation is variable and
DE may include developmental delay, hypotonia, liver dysfunction,
DE sensorineural hearing loss, retinal dystrophy and vision impairment.
DE Children with the NALD presentation may reach their teens, while
DE patients with the IRD presentation may reach adulthood. The clinical
DE conditions are often slowly progressive in particular with respect to
DE loss of hearing and vision. The biochemical abnormalities include
DE accumulation of phytanic acid, very long chain fatty acids (VLCFA),
DE di- and trihydroxycholestanoic acid and pipecolic acid.
SY Peroxisome biogenesis disorder 7B (NALD/IRD).
SY Peroxisome biogenesis disorder 7B (neonatal adrenoleukodystrophy/infantile Refsum disease).
DR MIM; 614873; phenotype.
DR MedGen; C3553951.
DR MedGen; CN159235.
DR MeSH; D052919.
KW KW-0958:Peroxisome biogenesis disorder.
//
ID Peroxisome biogenesis disorder 8A.
AC DI-03589
AR PBD8A.
DE A fatal peroxisome biogenesis disorder belonging to the Zellweger
DE disease spectrum and clinically characterized by severe neurologic
DE dysfunction with profound psychomotor retardation, severe hypotonia
DE and neonatal seizures, craniofacial abnormalities, liver dysfunction,
DE and biochemically by the absence of peroxisomes. Additional features
DE include cardiovascular and skeletal defects, renal cysts, ocular
DE abnormalities, and hearing impairment. Most severely affected
DE individuals with the classic form of the disease (classic Zellweger
DE syndrome) die within the first year of life.
SY Peroxisome biogenesis disorder 8A (Zellweger).
DR MIM; 614876; phenotype.
DR MedGen; C3553959.
DR MedGen; CN159236.
DR MeSH; D015211.
KW KW-0861:Zellweger syndrome.
//
ID Peroxisome biogenesis disorder 8B.
AC DI-03590
AR PBD8B.
DE A relatively mild peroxisome biogenesis disorder. Affected individuals
DE manifest lower limb spasticity and ataxia resulting in wheelchair
DE dependence. Other features include optic atrophy, cataracts,
DE dysarthria, dysphagia, constipation, and a peripheral demyelinating
DE motor and sensory neuropathy. Cognition is relatively preserved.
DE Biochemical abnormalities are mild and include increased very-long-
DE chain fatty acids (VLCFA), increased bile acid intermediates, and
DE increased branched chain fatty acids. Phytanic acid alpha-oxidation,
DE pristanic acid beta-oxidation, and red cell plasmalogen are normal.
DR MIM; 614877; phenotype.
DR MedGen; C3553960.
DR MedGen; CN159237.
DR MeSH; D018901.
KW KW-0958:Peroxisome biogenesis disorder.
//
ID Peroxisome biogenesis disorder 9B.
AC DI-03591
AR PBD9B.
DE A peroxisome biogenesis disorder with unusually mild clinical and
DE biochemical manifestations. Affected individuals manifest a variable
DE phenotype similar to, and in some cases indistinguishable from,
DE classic Refsum disease. Variable features include ocular
DE abnormalities, sensorimotor neuropathy, ichthyosis, deafness,
DE chondrodysplasia punctata without rhizomelia or growth failure.
SY Atypical peroxisome biogenesis disorder PEX7-related.
SY Refsum disease adult 2.
DR MIM; 614879; phenotype.
DR MedGen; C2749346.
DR MedGen; CN159238.
DR MeSH; D012035.
KW KW-0958:Peroxisome biogenesis disorder.
//
ID Peroxisome biogenesis disorder complementation group 1.
AC DI-00913
AR PBD-CG1.
DE A peroxisomal disorder arising from a failure of protein import into
DE the peroxisomal membrane or matrix. The peroxisome biogenesis
DE disorders (PBD group) are genetically heterogeneous with at least 14
DE distinct genetic groups as concluded from complementation studies.
DE Include disorders are: Zellweger syndrome (ZWS), neonatal
DE adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and
DE classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and
DE IRD are distinct from RCDP and constitute a clinical continuum of
DE overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
SY CG1.
SY PBD-CGE.
SY Peroxisome biogenesis disorder complementation group E.
DR MIM; 214100; phenotype.
DR MedGen; C1865803.
DR MedGen; C1865804.
DR MeSH; D018901.
KW KW-0958:Peroxisome biogenesis disorder.
//
ID Peroxisome biogenesis disorder complementation group 11.
AC DI-00920
AR PBD-CG11.
DE A peroxisomal disorder arising from a failure of protein import into
DE the peroxisomal membrane or matrix. The peroxisome biogenesis
DE disorders (PBD group) are genetically heterogeneous with at least 14
DE distinct genetic groups as concluded from complementation studies.
DE Include disorders are: Zellweger syndrome (ZWS), neonatal
DE adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and
DE classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and
DE IRD are distinct from RCDP and constitute a clinical continuum of
DE overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
SY CG11.
SY PBD-CGR.
SY Peroxisome biogenesis disorder complementation group R.
DR MIM; 614879; phenotype.
DR MedGen; C1866351.
DR MedGen; C1866352.
DR MeSH; D018901.
KW KW-0958:Peroxisome biogenesis disorder.
//
ID Peroxisome biogenesis disorder complementation group 12.
AC DI-00921
AR PBD-CG12.
DE A peroxisomal disorder arising from a failure of protein import into
DE the peroxisomal membrane or matrix. The peroxisome biogenesis
DE disorders (PBD group) are genetically heterogeneous with at least 14
DE distinct genetic groups as concluded from complementation studies.
DE Include disorders are: Zellweger syndrome (ZWS), neonatal
DE adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and
DE classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and
DE IRD are distinct from RCDP and constitute a clinical continuum of
DE overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
SY CG12.
SY PBD-CGG.
SY Peroxisome biogenesis disorder complementation group G.
DR MIM; 614882; phenotype.
DR MedGen; C1864171.
DR MedGen; C1864172.
DR MeSH; D018901.
KW KW-0958:Peroxisome biogenesis disorder.
//
ID Peroxisome biogenesis disorder complementation group 13.
AC DI-02153
AR PBD-CG13.
DE A peroxisomal disorder arising from a failure of protein import into
DE the peroxisomal membrane or matrix. The peroxisome biogenesis
DE disorders (PBD group) are genetically heterogeneous with at least 14
DE distinct genetic groups as concluded from complementation studies.
DE Include disorders are: Zellweger syndrome (ZWS), neonatal
DE adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and
DE classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and
DE IRD are distinct from RCDP and constitute a clinical continuum of
DE overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
SY CG13.
SY PBD-CGH.
SY Peroxisome biogenesis disorder complementation group H.
DR MIM; 614883; phenotype.
DR MedGen; C1866259.
DR MedGen; C1866260.
DR MeSH; D018901.
KW KW-0958:Peroxisome biogenesis disorder.
//
ID Peroxisome biogenesis disorder complementation group 14.
AC DI-00922
AR PBD-CG14.
DE A peroxisomal disorder arising from a failure of protein import into
DE the peroxisomal membrane or matrix. The peroxisome biogenesis
DE disorders (PBD group) are genetically heterogeneous with at least 14
DE distinct genetic groups as concluded from complementation studies.
DE Include disorders are: Zellweger syndrome (ZWS), neonatal
DE adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and
DE classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and
DE IRD are distinct from RCDP and constitute a clinical continuum of
DE overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
SY CG14.
SY PBD-CGJ.
SY Peroxisome biogenesis disorder complementation group J.
DR MIM; 614886; phenotype.
DR MedGen; C1838299.
DR MedGen; C1838300.
DR MeSH; D018901.
KW KW-0958:Peroxisome biogenesis disorder.
//
ID Peroxisome biogenesis disorder complementation group 2.
AC DI-03578
AR PBD-CG2.
DE A peroxisomal disorder arising from a failure of protein import into
DE the peroxisomal membrane or matrix. The peroxisome biogenesis
DE disorders (PBD group) are genetically heterogeneous with at least 14
DE distinct genetic groups as concluded from complementation studies.
DE Include disorders are: Zellweger syndrome (ZWS), neonatal
DE adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and
DE classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and
DE IRD are distinct from RCDP and constitute a clinical continuum of
DE overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
SY CG1.
SY PBD-CGE.
SY Peroxisome biogenesis disorder complementation group E.
DR MIM; 214110; phenotype.
DR MedGen; C3550274.
DR MeSH; D018901.
KW KW-0958:Peroxisome biogenesis disorder.
//
ID Peroxisome biogenesis disorder complementation group 3.
AC DI-00914
AR PBD-CG3.
DE A peroxisomal disorder arising from a failure of protein import into
DE the peroxisomal membrane or matrix. The peroxisome biogenesis
DE disorders (PBD group) are genetically heterogeneous with at least 14
DE distinct genetic groups as concluded from complementation studies.
DE Include disorders are: Zellweger syndrome (ZWS), neonatal
DE adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and
DE classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and
DE IRD are distinct from RCDP and constitute a clinical continuum of
DE overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
SY CG3.
DR MIM; 614859; phenotype.
DR MedGen; C1866340.
DR MeSH; D018901.
KW KW-0958:Peroxisome biogenesis disorder.
//
ID Peroxisome biogenesis disorder complementation group 4.
AC DI-00915
AR PBD-CG4.
DE A peroxisomal disorder arising from a failure of protein import into
DE the peroxisomal membrane or matrix. The peroxisome biogenesis
DE disorders (PBD group) are genetically heterogeneous with at least 14
DE distinct genetic groups as concluded from complementation studies.
DE Include disorders are: Zellweger syndrome (ZWS), neonatal
DE adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and
DE classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and
DE IRD are distinct from RCDP and constitute a clinical continuum of
DE overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
SY CG4.
SY PBD-CG6.
SY PBD-CGC.
SY Peroxisome biogenesis disorder complementation group 6.
SY Peroxisome biogenesis disorder complementation group C.
DR MIM; 614862; phenotype.
DR MedGen; C1832230.
DR MedGen; C1832231.
DR MedGen; C1832232.
DR MeSH; D018901.
KW KW-0958:Peroxisome biogenesis disorder.
//
ID Peroxisome biogenesis disorder complementation group 5.
AC DI-00916
AR PBD-CG5.
DE A peroxisomal disorder arising from a failure of protein import into
DE the peroxisomal membrane or matrix. The peroxisome biogenesis
DE disorders (PBD group) are genetically heterogeneous with at least 14
DE distinct genetic groups as concluded from complementation studies.
DE Include disorders are: Zellweger syndrome (ZWS), neonatal
DE adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and
DE classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and
DE IRD are distinct from RCDP and constitute a clinical continuum of
DE overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
SY CG5.
SY PBD-CG10.
SY PBD-CGF.
SY Peroxisome biogenesis disorder complementation group 10.
SY Peroxisome biogenesis disorder complementation group F.
SY Zellweger syndrome 3.
SY ZWS3.
DR MIM; 614866; phenotype.
DR MedGen; C3539010.
DR MedGen; C3553941.
DR MedGen; C3553942.
DR MeSH; D015211.
KW KW-0958:Peroxisome biogenesis disorder.
//
ID Peroxisome biogenesis disorder complementation group 7.
AC DI-00917
AR PBD-CG7.
DE A peroxisomal disorder arising from a failure of protein import into
DE the peroxisomal membrane or matrix. The peroxisome biogenesis
DE disorders (PBD group) are genetically heterogeneous with at least 14
DE distinct genetic groups as concluded from complementation studies.
DE Include disorders are: Zellweger syndrome (ZWS), neonatal
DE adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and
DE classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and
DE IRD are distinct from RCDP and constitute a clinical continuum of
DE overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
SY CG7.
SY PBD-CGB.
SY Peroxisome biogenesis disorder complementation group B.
DR MIM; 614870; phenotype.
DR MedGen; C1864399.
DR MeSH; D018901.
KW KW-0958:Peroxisome biogenesis disorder.
//
ID Peroxisome biogenesis disorder complementation group 8.
AC DI-00918
AR PBD-CG8.
DE A peroxisomal disorder arising from a failure of protein import into
DE the peroxisomal membrane or matrix. The peroxisome biogenesis
DE disorders (PBD group) are genetically heterogeneous with at least 14
DE distinct genetic groups as concluded from complementation studies.
DE Include disorders are: Zellweger syndrome (ZWS), neonatal
DE adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and
DE classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and
DE IRD are distinct from RCDP and constitute a clinical continuum of
DE overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
SY CG8.
SY PBD-CGA.
SY Peroxisome biogenesis disorder complementation group A.
DR MIM; 614872; phenotype.
DR MedGen; C3553950.
DR MeSH; D018901.
KW KW-0958:Peroxisome biogenesis disorder.
//
ID Peroxisome biogenesis disorder complementation group 9.
AC DI-00919
AR PBD-CG9.
DE A peroxisomal disorder arising from a failure of protein import into
DE the peroxisomal membrane or matrix. The peroxisome biogenesis
DE disorders (PBD group) are genetically heterogeneous with at least 14
DE distinct genetic groups as concluded from complementation studies.
DE Include disorders are: Zellweger syndrome (ZWS), neonatal
DE adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and
DE classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and
DE IRD are distinct from RCDP and constitute a clinical continuum of
DE overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
SY CG9.
SY PBD-CGD.
SY Peroxisome biogenesis disorder complementation group D.
DR MIM; 614876; phenotype.
DR MedGen; C1863998.
DR MedGen; C1863999.
DR MeSH; D018901.
KW KW-0958:Peroxisome biogenesis disorder.
//
ID Peroxisome biogenesis disorder complementation group K.
AC DI-02154
AR PBD-CGK.
DE A peroxisomal disorder arising from a failure of protein import into
DE the peroxisomal membrane or matrix. The peroxisome biogenesis
DE disorders (PBD group) are genetically heterogeneous with at least 14
DE distinct genetic groups as concluded from complementation studies.
DE Include disorders are: Zellweger syndrome (ZWS), neonatal
DE adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and
DE classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and
DE IRD are distinct from RCDP and constitute a clinical continuum of
DE overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
DR MIM; 614887; phenotype.
DR MedGen; C1866257.
DR MeSH; D018901.
KW KW-0958:Peroxisome biogenesis disorder.
//
ID Perrault syndrome 1.
AC DI-03133
AR PRLTS1.
DE A sex-influenced disorder characterized by sensorineural deafness in
DE both males and females and ovarian dysgenesis in females. Some
DE patients also have neurologic manifestations, including mild
DE intellectual disability and cerebellar and peripheral nervous system
DE involvement.
SY Gonadal dysgenesis XX type with deafness.
SY Ovarian dysgenesis with sensorineural deafness.
DR MIM; 233400; phenotype.
DR MedGen; C0685838.
DR MeSH; D006319.
DR MeSH; D023961.
KW KW-0209:Deafness.
//
ID Perrault syndrome 2.
AC DI-03615
AR PRLTS2.
DE A sex-influenced disorder characterized by sensorineural deafness in
DE both males and females and ovarian dysgenesis in females. Affected
DE females have primary amenorrhea, streak gonads, and infertility,
DE whereas affected males show normal pubertal development and are
DE fertile.
DR MIM; 614926; phenotype.
DR MedGen; C3554105.
DR MedGen; CN160612.
DR MeSH; D006319.
DR MeSH; D023961.
KW KW-0209:Deafness.
//
ID Perrault syndrome 3.
AC DI-03818
AR PRLTS3.
DE A sex-influenced disorder characterized by sensorineural deafness in
DE both males and females, and ovarian dysgenesis in females. Affected
DE females have primary amenorrhea, streak gonads, and infertility,
DE whereas affected males show normal pubertal development and are
DE fertile. A spectrum of additional clinical features, including
DE cerebellar ataxia, learning disability, and peripheral neuropathy,
DE have been described in some PRLTS3 affected individuals.
DR MIM; 614129; phenotype.
DR MedGen; C2681413.
DR MedGen; C3808414.
DR MeSH; D006319.
DR MeSH; D023961.
KW KW-0209:Deafness.
//
ID Perrault syndrome 4.
AC DI-03819
AR PRLTS4.
DE An autosomal recessive, sex-influenced disorder characterized by
DE sensorineural deafness in both males and females, and ovarian
DE dysgenesis in females. Affected females have primary amenorrhea,
DE streak gonads, and infertility, whereas affected males show normal
DE pubertal development and are fertile.
DR MIM; 615300; phenotype.
DR MedGen; C3809105.
DR MedGen; CN177835.
DR MeSH; D006319.
DR MeSH; D023961.
KW KW-0209:Deafness.
//
ID Perrault syndrome 5.
AC DI-04281
AR PRLTS5.
DE A form of Perrault syndrome, a sex-influenced disorder characterized
DE by sensorineural deafness in both males and females, and ovarian
DE dysgenesis in females. Affected females have primary amenorrhea,
DE streak gonads, and infertility, whereas affected males show normal
DE pubertal development and are fertile.
DR MIM; 616138; phenotype.
DR MedGen; CN224077.
DR MeSH; D006319.
DR MeSH; D023961.
KW KW-0209:Deafness.
//
ID Perrault syndrome 6.
AC DI-05039
AR PRLTS6.
DE A form of Perrault syndrome, a sex-influenced disorder characterized
DE by sensorineural deafness in both males and females, and ovarian
DE dysgenesis in females. Affected females have primary amenorrhea,
DE streak gonads, and infertility, whereas affected males show normal
DE pubertal development and are fertile. PRLTS6 inheritance is autosomal
DE recessive.
DR MIM; 617565; phenotype.
DR MedGen; CN314202.
DR MeSH; D006319.
DR MeSH; D023961.
KW KW-0209:Deafness.
//
ID Perry syndrome.
AC DI-02797
AR PERRYS.
DE A neuropsychiatric disorder characterized by mental depression not
DE responsive to antidepressant drugs or electroconvulsive therapy, sleep
DE disturbances, exhaustion and marked weight loss. Parkinsonism develops
DE later and respiratory failure occurred terminally.
SY Parkinsonism with alveolar hypoventilation and mental depression.
DR MIM; 168605; phenotype.
DR MedGen; C1868594.
DR MeSH; D003863.
DR MeSH; D007040.
DR MeSH; D020734.
KW KW-0908:Parkinsonism.
//
ID Persistent hyperplastic primary vitreous, autosomal recessive.
AC DI-03277
AR PHPVAR.
DE A developmental eye malformation associated with microphthalmia,
DE cataract, glaucoma, and congenital retinal non-attachment. It is due
DE to failure of the primary vitreous to regress in utero, resulting in
DE the presence of a retrolental fibrovascular membrane with persistence
DE of the posterior portion of the tunica vasculosa lentis and hyaloid
DE artery. Disease manifestations range from a trivial remnant of hyaloid
DE vessels to a dense fibrovascular mass causing lens opacity and retinal
DE detachment.
SY Congenital non-syndromic retinal non-attachment.
SY NCRNA.
SY Persistent fetal vasculature.
SY Retinal detachment congenital.
SY Retinal non-attachment and falciform detachment.
SY RNANC.
DR MIM; 221900; phenotype.
DR MedGen; C1857299.
DR MeSH; D012163.
//
ID Persistent Muellerian duct syndrome 1.
AC DI-02155
AR PMDS1.
DE A form of male pseudohermaphroditism characterized by a failure of
DE Muellerian duct regression in otherwise normal males.
SY Persistent Muellerian duct syndrome type I.
SY PMDS-1.
DR MIM; 261550; phenotype.
DR MedGen; C1849930.
//
ID Persistent Muellerian duct syndrome 2.
AC DI-02156
AR PMDS2.
DE A form of male pseudohermaphroditism characterized by a failure of
DE Muellerian duct regression in otherwise normal males.
SY Persistent Muellerian duct syndrome type II.
SY PMDS-2.
DR MIM; 261550; phenotype.
DR MedGen; C1849930.
//
ID Persistent polyclonal B-cell lymphocytosis.
AC DI-03717
AR PPBL.
DE An autosomal dominant condition characterized by onset in infancy of
DE splenomegaly and polyclonal expansion of B cells, resulting in
DE peripheral lymphocytosis. Affected individuals also show mild immune
DE dysfunction, including some defective antibody responses and T-cell
DE anergy. There may be a predisposition to the development of B-cell
DE malignancy.
DR MIM; 606445; phenotype.
DR MedGen; C1847973.
DR MeSH; D008218.
//
ID Peters-plus syndrome.
AC DI-02158
AR PTRPLS.
DE An autosomal recessive disorder characterized by anterior eye-chamber
DE abnormalities, disproportionate short stature, developmental delay,
DE characteristic craniofacial features, cleft lip and/or palate.
SY Krause-Kivlin syndrome.
SY Peters anomaly with short-limb dwarfism.
DR MIM; 261540; phenotype.
DR MedGen; C0796012.
DR MeSH; D002971.
DR MeSH; D006130.
DR MeSH; D017880.
KW KW-0242:Dwarfism.
//
ID Pettigrew syndrome.
AC DI-04207
AR PGS.
DE An X-linked syndrome characterized by intellectual disability and
DE additional highly variable features, including choreoathetosis,
DE hydrocephalus, Dandy-Walker malformation, seizures, and iron or
DE calcium deposition in the brain. Intellectual disability is
DE characterized by significantly below average general intellectual
DE functioning associated with impairments in adaptive behavior and
DE manifested during the developmental period.
SY MRX59.
SY MRXS21.
SY MRXS5.
SY MRXSF.
DR MIM; 304340; phenotype.
DR MedGen; C0796254.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Peutz-Jeghers syndrome.
AC DI-00923
AR PJS.
DE An autosomal dominant disorder characterized by melanocytic macules of
DE the lips, multiple gastrointestinal hamartomatous polyps and an
DE increased risk for various neoplasms, including gastrointestinal
DE cancer.
SY Intestinal hamartomatous polyposis.
SY Polyps-and-spots syndrome.
DR MIM; 175200; phenotype.
DR MedGen; C0031269.
DR MeSH; D010580.
//
ID Pfeiffer syndrome.
AC DI-00924
AR PS.
DE A syndrome characterized by the association of craniosynostosis, broad
DE and deviated thumbs and big toes, and partial syndactyly of the
DE fingers and toes. Three subtypes are known: mild autosomal dominant
DE form (type 1); cloverleaf skull, elbow ankylosis, early death,
DE sporadic (type 2); craniosynostosis, early demise, sporadic (type 3).
SY Acrocephalosyndactyly type 5.
SY ACS5.
SY ACS V.
DR MIM; 101600; phenotype.
DR MedGen; C0220658.
DR MedGen; C1863356.
DR MeSH; D000168.
KW KW-0989:Craniosynostosis.
//
ID Phelan-McDermid syndrome.
AC DI-03945
AR PHMDS.
DE A developmental disorder with variable features. Common features
DE include neonatal hypotonia, global developmental delay, normal to
DE accelerated growth, absent to severely delayed speech, autistic
DE behavior, and minor dysmorphic features.
SY Chromosome 22q13.3 deletion syndrome.
SY Telomeric 22q13 monosomy syndrome.
DR MIM; 606232; phenotype.
DR MedGen; C1853490.
DR MedGen; C2931332.
DR MeSH; D002872.
//
ID Phenylketonuria.
AC DI-02159
AR PKU.
DE Autosomal recessive inborn error of phenylalanine metabolism, due to
DE severe phenylalanine hydroxylase deficiency. It is characterized by
DE blood concentrations of phenylalanine persistently above 1200 mumol
DE (normal concentration 100 mumol) which usually causes intellectual
DE disability (unless low phenylalanine diet is introduced early in
DE life). They tend to have light pigmentation, rashes similar to eczema,
DE epilepsy, extreme hyperactivity, psychotic states and an unpleasant
DE 'mousy' odor.
DR MIM; 261600; phenotype.
DR MedGen; C0031485.
DR MedGen; C0085547.
DR MedGen; C0751434.
DR MedGen; C2678416.
//
ID Pheochromocytoma.
AC DI-02160
AR PCC.
DE A catecholamine-producing tumor of chromaffin tissue of the adrenal
DE medulla or sympathetic paraganglia. The cardinal symptom, reflecting
DE the increased secretion of epinephrine and norepinephrine, is
DE hypertension, which may be persistent or intermittent.
SY Chromaffin cell tumor.
SY Medullary chromaffinoma.
SY Medullary paraganglioma.
SY Pheochromoblastoma.
DR MIM; 171300; phenotype.
DR MedGen; C0031511.
DR MedGen; C3149711.
DR MeSH; D010673.
//
ID Phosphoenolpyruvate carboxykinase deficiency, cytosolic.
AC DI-01470
AR PCKDC.
DE An autosomal recessive metabolic disorder characterized by impaired
DE gluconeogenesis, hypoglycemia, hypotonia, hepatomegaly, hepatic
DE dysfunction, failure to thrive, lactic acidosis, and elevated
DE tricarboxylic acid intermediates, particularly fumarate, in urine.
SY PCK1 deficiency, cytosolic.
SY PEPCK deficiency, cytosolic.
DR MIM; 261680; phenotype.
DR MedGen; C0268194.
DR MeSH; D002239.
//
ID Phosphoglycerate dehydrogenase deficiency.
AC DI-02161
AR PHGDHD.
DE An autosomal recessive inborn error of L-serine biosynthesis,
DE clinically characterized by congenital microcephaly, psychomotor
DE retardation, and seizures.
SY PHGDH deficiency.
DR MIM; 601815; phenotype.
DR MedGen; C1866174.
DR MeSH; D000592.
//
ID Phosphoglycerate kinase 1 deficiency.
AC DI-02753
AR PGK1D.
DE A condition with a highly variable clinical phenotype that includes
DE hemolytic anemia, rhabdomyolysis, myopathy and neurologic involvement.
DE Patients can express one or more of these manifestations.
SY PGK1 deficiency.
DR MIM; 300653; phenotype.
DR MedGen; C1970848.
DR MeSH; D000743.
DR MeSH; D009212.
DR MeSH; D020739.
KW KW-0360:Hereditary hemolytic anemia.
//
ID Phosphohydroxylysinuria.
AC DI-03669
AR PHLU.
DE A condition characterized by elevated phosphohydroxylysine in the
DE urine. There is no clinical phenotype associated with this finding
DE other than the urinary metabolites.
DR MIM; 615011; phenotype.
DR MedGen; C3554344.
DR MedGen; CN164368.
DR MeSH; D008661.
//
ID Phosphoribosylpyrophosphate synthetase superactivity.
AC DI-02162
AR PRPS1 superactivity.
DE Familial disorder characterized by excessive purine production, gout
DE and uric acid urolithiasis.
SY PRPS-related gout.
DR MIM; 300661; phenotype.
DR MedGen; C1839469.
DR MedGen; C1970827.
//
ID Phosphoserine aminotransferase deficiency.
AC DI-02163
AR PSATD.
DE Characterized biochemically by low plasma and cerebrospinal fluid
DE concentrations of serine and glycine and clinically by intractable
DE seizures, acquired microcephaly, hypertonia, and psychomotor
DE retardation.
DR MIM; 610992; phenotype.
DR MedGen; C1970253.
//
ID Phosphoserine phosphatase deficiency.
AC DI-00010
AR PSPHD.
DE An autosomal recessive disorder that results in pre- and postnatal
DE growth retardation, moderate psychomotor retardation and facial
DE features suggestive of Williams syndrome.
DR MIM; 614023; phenotype.
DR MedGen; C1291463.
DR MeSH; D000592.
//
ID Pick disease of the brain.
AC DI-02937
AR PIDB.
DE A rare form of dementia pathologically defined by severe atrophy,
DE neuronal loss and gliosis. It is characterized by the occurrence of
DE tau-positive inclusions, swollen neurons (Pick cells) and
DE argentophilic neuronal inclusions known as Pick bodies that
DE disproportionally affect the frontal and temporal cortical regions.
DE Clinical features include aphasia, apraxia, confusion, anomia, memory
DE loss and personality deterioration.
SY Dementia with lobar atrophy and neuronal cytoplasmic inclusions.
SY Lobar atrophy of brain.
DR MIM; 172700; phenotype.
DR MedGen; C0236642.
DR MeSH; D020774.
KW KW-0523:Neurodegeneration.
//
ID Piebald trait.
AC DI-02164
AR PBT.
DE Autosomal dominant genetic developmental abnormality of pigmentation
DE characterized by congenital patches of white skin and hair that lack
DE melanocytes.
SY Piebaldism.
DR MIM; 172800; phenotype.
DR MedGen; C0080024.
//
ID Pierpont syndrome.
AC DI-04736
AR PRPTS.
DE An autosomal dominant syndrome characterized by multiple congenital
DE anomalies, global developmental delay, learning disability, palmar and
DE plantar fat pads, and distinctive facial characteristics, especially
DE when smiling.
SY Plantar lipomatosis, unusual facies, and developmental delay.
DR MIM; 602342; phenotype.
DR MedGen; C1865644.
DR MeSH; D002658.
DR MeSH; D008068.
DR MeSH; D019066.
//
ID Pierson syndrome.
AC DI-02165
AR PIERSS.
DE Characterized by nephrotic syndrome with neonatal onset, diffuse
DE mesangial sclerosis and eye abnormalities with microcoria as the
DE leading clinical feature. Death usually occurs within the first weeks
DE of life. Disease severity depends on the mutation type: nontruncating
DE LAMB2 mutations may display variable phenotypes ranging from a milder
DE variant of Pierson syndrome to isolated congenital nephrotic syndrome.
SY Microcoria-congenital nephrotic syndrome.
DR MIM; 609049; phenotype.
DR MedGen; C1836876.
//
ID Pigmentary disorder, reticulate, with systemic manifestations, X-linked.
AC DI-04788
AR PDR.
DE An X-linked recessive disorder characterized by recurrent infections
DE and sterile inflammation in various organs. Diffuse skin
DE hyperpigmentation with a distinctive reticulate pattern is universally
DE evident by early childhood. This is later followed in many patients by
DE hypohidrosis, corneal inflammation and scarring, enterocolitis that
DE resembles inflammatory bowel disease, and recurrent urethral
DE strictures. Melanin and amyloid deposition is present in the dermis.
DE Affected males also have a characteristic facies with frontally
DE upswept hair and flared eyebrows. Female carriers have only restricted
DE pigmentary changes along Blaschko's lines.
SY XLPDR.
DR MIM; 301220; phenotype.
DR MedGen; C1845050.
DR MeSH; D000686.
DR MeSH; D010859.
//
ID Pigmented paravenous chorioretinal atrophy.
AC DI-02166
AR PPCRA.
DE Unusual retinal degeneration characterized by accumulation of
DE pigmentation along retinal veins. PPCRA is dominantly inherited, but
DE exhibited variable expressivity. Males are more likely to exhibit a
DE severe phenotype, whereas females may remain virtually asymptomatic
DE even in later years. The PPCRA phenotype is associated with a mutation
DE in CRB1 gene which is likely to affect the structure of the CRB1
DE protein.
DR MIM; 172870; phenotype.
DR MedGen; C1868310.
//
ID Pilarowski-Bjornsson syndrome.
AC DI-05102
AR PILBOS.
DE An autosomal dominant disorder characterized by developmental delay,
DE speech apraxia, intellectual disability, autism, and facial dysmorphic
DE features. Some patients may have seizures.
SY Developmental delay and speech apraxia with or without seizures.
DR MIM; 617682; phenotype.
DR MedGen; CN482172.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Pilomatrixoma.
AC DI-02167
AR PTR.
DE Common benign skin tumor.
DR MIM; 132600; phenotype.
DR MedGen; C0206711.
//
ID Pitt-Hopkins syndrome.
AC DI-02168
AR PTHS.
DE A syndrome characterized by intellectual disability, wide mouth and
DE distinctive facial features, and intermittent hyperventilation
DE followed by apnea. Features include intellectual disability with
DE severe speech impairment, normal growth parameters at birth, postnatal
DE microcephaly, breathing anomalies, severe motor developmental delay,
DE motor incoordination, ocular anomalies, constipation, seizures,
DE typical behavior and subtle brain abnormalities.
SY Encephalopathy severe epileptic with autonomic dysfunction.
DR MIM; 610954; phenotype.
DR MedGen; C1970431.
DR MeSH; D006985.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Pitt-Hopkins-like syndrome 1.
AC DI-03300
AR PTHSL1.
DE A syndrome characterized by severe intellectual disability and
DE variable additional symptoms, such as impaired speech development,
DE seizures, autistic behavior, breathing anomalies and a broad mouth,
DE resembling Pitt-Hopkins syndrome. In contrast to patients with Pitt-
DE Hopkins syndrome, PTHSL1 patients present with normal or only mildly
DE to moderately delayed motor milestones.
SY MeSH; D006985.
SY MeSH; D008607.
DR MIM; 610042; phenotype.
DR MedGen; C2750246.
KW KW-0991:Intellectual disability.
//
ID Pitt-Hopkins-like syndrome 2.
AC DI-03301
AR PTHSL2.
DE A syndrome characterized by severe intellectual disability and
DE variable additional symptoms, such as impaired speech development,
DE autistic behavior, breathing anomalies and a broad mouth, resembling
DE Pitt-Hopkins syndrome. Other features include decreased reflexes in
DE the upper extremities, constipation, strabismus, and protruding tongue
DE with drooling. In contrast to patients with Pitt-Hopkins syndrome,
DE PTHSL2 patients present with normal or only mildly to moderately
DE delayed motor milestones.
SY MeSH; D006985.
SY MeSH; D008607.
DR MIM; 614325; phenotype.
DR MedGen; C3280479.
KW KW-0991:Intellectual disability.
//
ID Pituitary adenoma 1, multiple types.
AC DI-01689
AR PITA1.
DE A form of pituitary adenoma, a neoplasm of the pituitary gland and one
DE of the most common neuroendocrine tumors. Pituitary adenomas are
DE clinically classified as functional and non-functional tumors, and
DE manifest with a variety of features, including local invasion of
DE surrounding structures and excessive hormone secretion. Functional
DE pituitary adenomas are further classified by the type of hormone they
DE secrete: growth hormone (GH)-secreting, prolactin (PRL)-secreting,
DE adrenocorticotropin (ACTH)-secreting, thyroid- stimulating hormone
DE (TSH)-secreting, and plurihormonal (GH and TSH) tumors. Familial and
DE sporadic forms have been reported.
SY Acromegaly due to pituitary adenoma.
SY Acromegaly due to pituitary adenoma 1.
SY Familial isolated pituitary adenoma.
SY Familial isolated somatotropinomas.
SY Familial somatotrophinoma.
SY FIPA.
SY FIS.
SY IFS.
SY Isolated familial somatotropinoma.
SY PAGH1.
SY Pituitary adenoma, growth hormone-secreting, 1.
DR MIM; 102200; phenotype.
DR MedGen; C0346302.
DR MedGen; C1863340.
DR MedGen; C2676191.
DR MedGen; C3489630.
DR MeSH; D000172.
DR MeSH; D049912.
//
ID Pituitary adenoma 2, growth hormone-secreting.
AC DI-04304
AR PITA2.
DE A form of pituitary adenoma, a neoplasm of the pituitary gland and one
DE of the most common neuroendocrine tumors. Pituitary adenomas are
DE clinically classified as functional and non-functional tumors, and
DE manifest with a variety of features, including local invasion of
DE surrounding structures and excessive hormone secretion. Functional
DE pituitary adenomas are further classified by the type of hormone they
DE secrete. PITA2 is a growth hormone-secreting benign neoplasm, also
DE known as somatotropinoma. It clinically results in acromegaly, a
DE condition characterized by coarse facial features, protruding jaw, and
DE enlarged extremities. Excessive production of growth hormone in
DE children or adolescents before the closure of epiphyses causes
DE gigantism, a condition characterized by abnormally tall stature.
SY Acromegaly, X-linked.
SY Acromegaly due to pituitary adenoma 2.
DR MIM; 300943; phenotype.
DR MedGen; C4012409.
DR MeSH; D000172.
DR MeSH; D049912.
//
ID Pituitary adenoma 3, multiple types.
AC DI-05088
AR PITA3.
DE A form of pituitary adenoma, a neoplasm of the pituitary gland and one
DE of the most common neuroendocrine tumors. Pituitary adenomas are
DE clinically classified as functional and non-functional tumors, and
DE manifest with a variety of features, including local invasion of
DE surrounding structures and excessive hormone secretion. Functional
DE pituitary adenomas are further classified by the type of hormone they
DE secrete: growth hormone (GH)-secreting, prolactin (PRL)-secreting,
DE adrenocorticotropin (ACTH)-secreting, thyroid-stimulating hormone
DE (TSH)-secreting, and plurihormonal (GH and TSH) tumors. Familial and
DE sporadic forms have been reported.
DR MIM; 617686; phenotype.
DR MedGen; CN495005.
DR MeSH; D010911.
//
ID Pituitary adenoma 4, ACTH-secreting.
AC DI-01168
AR PITA4.
DE A form of pituitary adenoma, a neoplasm of the pituitary gland and one
DE of the most common neuroendocrine tumors. Pituitary adenomas are
DE clinically classified as functional and non-functional tumors, and
DE manifest with a variety of features, including local invasion of
DE surrounding structures and excessive hormone secretion. Functional
DE pituitary adenomas are further classified by the type of hormone they
DE secrete. PITA4 results in excessive production of adrenocorticotropic
DE hormone. This leads to hypersecretion of cortisol by the adrenal
DE glands and ACTH-dependent Cushing syndrome. Clinical manifestations of
DE Cushing syndrome include facial and truncal obesity, abdominal striae,
DE muscular weakness, osteoporosis, arterial hypertension, diabetes.
SY Cushing disease.
SY Pituitary Cushing disease.
DR MIM; 219090; phenotype.
DR MedGen; C0221406.
DR MeSH; D049913.
KW KW-1062:Cushing syndrome.
//
ID Pituitary adenoma 5, multiple types.
AC DI-05087
AR PITA5.
DE A form of pituitary adenoma, a neoplasm of the pituitary gland and one
DE of the most common neuroendocrine tumors. Pituitary adenomas are
DE clinically classified as functional and non-functional tumors, and
DE manifest with a variety of features, including local invasion of
DE surrounding structures and excessive hormone secretion. Functional
DE pituitary adenomas are further classified by the type of hormone they
DE secrete: growth hormone (GH)-secreting, prolactin (PRL)-secreting,
DE adrenocorticotropin (ACTH)-secreting, thyroid-stimulating hormone
DE (TSH)-secreting, and plurihormonal (GH and TSH) tumors. Familial and
DE sporadic forms have been reported. The transmission pattern of
DE familial PITA5 is consistent with autosomal dominant inheritance with
DE reduced penetrance.
DR MIM; 617540; phenotype.
DR MedGen; CN432550.
DR MeSH; D010911.
//
ID Pituitary hormone deficiency, combined, 1.
AC DI-01563
AR CPHD1.
DE Combined pituitary hormone deficiency is defined as the impaired
DE production of growth hormone and one or more of the other five
DE anterior pituitary hormones. CPHD1 is characterized by pleiotropic
DE deficiencies of growth hormone, prolactin and thyroid-stimulating
DE hormone, while the production of adrenocorticotropic hormone,
DE luteinizing hormone, and follicle-stimulating hormone are preserved.
DE In infancy severe growth deficiency from birth as well as distinctive
DE facial features with prominent forehead, marked midfacial hypoplasia
DE with depressed nasal bridge, deep-set eyes, and a short nose with
DE anteverted nostrils and hypoplastic pituitary gland by MRI examination
DE can be seen. Some cases present with severe intellectual disability
DE along with short stature.
DR MIM; 613038; phenotype.
DR MedGen; C2751608.
DR MeSH; D007018.
KW KW-0242:Dwarfism.
//
ID Pituitary hormone deficiency, combined, 2.
AC DI-01369
AR CPHD2.
DE Combined pituitary hormone deficiency is defined as the impaired
DE production of growth hormone and one or more of the other five
DE anterior pituitary hormones. CPHD2 is characterized by pleiotropic
DE deficiencies of growth hormone, thyroid-stimulating hormone, follicle-
DE stimulating hormone, luteinizing hormone, prolactin and
DE adrenocorticotropic hormone.
SY Ateliotic dwarfism with hypogonadism.
SY Hanhart dwarfism.
SY Panhypopituitarism.
SY Pituitary dwarfism III.
DR MIM; 262600; phenotype.
DR MedGen; C0878683.
DR MeSH; D007018.
KW KW-0242:Dwarfism.
//
ID Pituitary hormone deficiency, combined, 3.
AC DI-02580
AR CPHD3.
DE Combined pituitary hormone deficiency is defined as the impaired
DE production of growth hormone and one or more of the other five
DE anterior pituitary hormones. CPHD3 is characterized by a complete
DE deficit in all but one (adrenocorticotropin) anterior pituitary
DE hormone and a rigid cervical spine leading to limited head rotation.
SY Combined pituitary hormone deficiency with rigid cervical spine.
SY Sensorineural deafness with pituitary dwarfism.
DR MIM; 221750; phenotype.
DR MedGen; C1857330.
DR MedGen; C3489787.
DR MeSH; D007018.
KW KW-0242:Dwarfism.
//
ID Pituitary hormone deficiency, combined, 4.
AC DI-02299
AR CPHD4.
DE Combined pituitary hormone deficiency is defined as the impaired
DE production of growth hormone and one or more of the other five
DE anterior pituitary hormones. CPHD4 is characterized by complete or
DE partial deficiencies of growth hormone, thyroid-stimulating hormone,
DE luteinizing hormone, follicle stimulating hormone and
DE adrenocorticotropic hormone. Clinical features include short stature,
DE cerebellar defects, and small sella turcica.
SY Pituitary hormone deficiency combined with or without cerebellar defects.
SY Short stature pituitary and cerebellar defects and small sella turcica.
DR MIM; 262700; phenotype.
DR MedGen; C2678408.
DR MeSH; D007018.
KW KW-0242:Dwarfism.
//
ID Pituitary hormone deficiency, combined, 5.
AC DI-02582
AR CPHD5.
DE Combined pituitary hormone deficiency is defined as the impaired
DE production of growth hormone and one or more of the other five
DE anterior pituitary hormones. CPHD5 is characterized by complete or
DE partial deficiencies of growth hormone, thyroid-stimulating hormone,
DE luteinizing hormone, follicle stimulating hormone and
DE adrenocorticotropic hormone.
DR MIM; 182230; phenotype.
DR MedGen; C2750026.
DR MeSH; D007018.
KW KW-0242:Dwarfism.
//
ID Pituitary hormone deficiency, combined, 6.
AC DI-03174
AR CPHD6.
DE Combined pituitary hormone deficiency is defined as the impaired
DE production of growth hormone and one or more of the other five
DE anterior pituitary hormones. CPHD6 patients manifest neonatal
DE hypoglycemia, and deficiencies of growth hormone, thyroid-stimulating
DE hormone, luteinizing hormone, follicle stimulating hormone and
DE adrenocorticotropic hormone.
DR MIM; 613986; phenotype.
DR MedGen; C3151440.
DR MeSH; D007018.
//
ID Pityriasis rubra pilaris.
AC DI-03513
AR PRP.
DE A rare, papulosquamous skin disease characterized by the appearance of
DE keratotic follicular papules, well-demarcated salmon-colored
DE erythematous plaques covered with fine powdery scales interspersed
DE with distinct islands of uninvolved skin, and palmoplantar
DE keratoderma. Most cases are sporadic. The rare familial cases show
DE autosomal dominant inheritance with incomplete penetrance and variable
DE expression. Familial PRP usually presents at birth or appears during
DE the first years of life and runs a chronic course. It is characterized
DE by prominent follicular hyperkeratosis, diffuse palmoplantar
DE keratoderma, and erythema.
DR MIM; 173200; phenotype.
DR MedGen; C0032027.
DR MeSH; D010916.
//
ID Plasminogen activator inhibitor-1 deficiency.
AC DI-02169
AR PAI-1D.
DE A hematologic disorder characterized by increased bleeding after
DE trauma, injury, or surgery. Affected females have menorrhagia. The
DE bleeding defect is due to increased fibrinolysis of fibrin blood clots
DE due to deficiency of plasminogen activator inhibitor-1, which inhibits
DE tissue and urinary activators of plasminogen.
DR MIM; 613329; phenotype.
DR MedGen; C2750067.
DR MeSH; D025861.
//
ID Plasminogen deficiency.
AC DI-02666
AR PLGD.
DE A disorder characterized by decreased serum plasminogen activity. Two
DE forms of the disorder are distinguished: type 1 deficiency is
DE additionally characterized by decreased plasminogen antigen levels and
DE clinical symptoms, whereas type 2 deficiency, also known as
DE dysplasminogenemia, is characterized by normal, or slightly reduced
DE antigen levels, and absence of clinical manifestations. Plasminogen
DE deficiency type 1 results in markedly impaired extracellular
DE fibrinolysis and chronic mucosal pseudomembranous lesions due to
DE subepithelial fibrin deposition and inflammation. The most common
DE clinical manifestation of type 1 deficiency is ligneous conjunctivitis
DE in which pseudomembranes formation on the palpebral surfaces of the
DE eye progresses to white, yellow-white, or red thick masses with a
DE wood-like consistency that replace the normal mucosa.
SY Dysplasminogenemia.
SY Hypoplasminogenemia.
SY Ligneous conjunctivitis.
SY Plasminogen deficiency type I.
SY Plasminogen deficiency type II.
DR MIM; 217090; phenotype.
DR MedGen; C0521808.
DR MedGen; C1274789.
DR MedGen; C1968804.
DR MeSH; D003231.
//
ID Platelet glycoprotein IV deficiency.
AC DI-02170
AR PG4D.
DE A disorder characterized by macrothrombocytopenia without notable
DE hemostatic problems and bleeding tendency. Platelet glycoprotein IV
DE deficiency can be divided into 2 subgroups. The type I phenotype is
DE characterized by platelets and monocytes/macrophages exhibiting
DE complete CD36 deficiency. The type II phenotype lacks the surface
DE expression of CD36 in platelets, but expression in
DE monocytes/macrophages is near normal.
SY BDPLT10.
SY Bleeding disorder platelet-type 10.
SY CD36 deficiency.
DR MIM; 608404; phenotype.
DR MedGen; C1842090.
DR MeSH; D013921.
//
ID Platelet-activating factor acetylhydrolase deficiency.
AC DI-02171
AR PAFAD.
DE An enzymatic deficiency that results in exacerbated bodily response to
DE inflammatory agents. It can be associated with several disease states
DE including inflammatory gastrointestinal disorders, asthma and atopy.
DE Asthmatic individuals with PAFAD may manifest aggravated respiratory
DE symptoms.
DR MIM; 614278; phenotype.
DR MedGen; C1866472.
DR MedGen; C3280315.
DR MeSH; D006969.
//
ID Platyspondylic lethal skeletal dysplasia Torrance type.
AC DI-02173
AR PLSD-T.
DE Platyspondylic lethal skeletal dysplasias (PLSDs) are a heterogeneous
DE group of chondrodysplasias characterized by severe platyspondyly and
DE limb shortening. PLSD-T is characterized by varying platyspondyly,
DE short ribs with anterior cupping, hypoplasia of the lower ilia with
DE broad ischial and pubic bones, and shortening of the tubular bones
DE with splayed and cupped metaphyses. Histology of the growth plate
DE typically shows focal hypercellularity with slightly enlarged
DE chondrocytes in the resting cartilage and relatively well-preserved
DE columnar formation and ossification at the chondro-osseous junction.
DE PLSD-T is generally a perinatally lethal disease, but a few long-term
DE survivors have been reported.
DR MIM; 151210; phenotype.
DR MedGen; C1835437.
DR MedGen; C1835439.
//
ID Pleuropulmonary blastoma.
AC DI-02550
AR PPB.
DE A rare pediatric intrathoracic neoplasm. The tumor arises from the
DE lung, pleura, or both, and appears to be purely mesenchymal in
DE phenotype. It lacks malignant epithelial elements, a feature that
DE distinguishes it from the classic adult-type pulmonary blastoma. It
DE arises during fetal lung development and is often part of an inherited
DE cancer syndrome. The tumor contain both epithelial and mesenchymal
DE cells. Early in tumorigenesis, cysts form in lung airspaces, and these
DE cysts are lined with benign-appearing epithelium. Mesenchymal cells
DE susceptible to malignant transformation reside within the cyst walls
DE and form a dense layer beneath the epithelial lining. In a subset of
DE patients, overgrowth of the mesenchymal cells produces a sarcoma, a
DE transition that is associated with a poorer prognosis. Some patients
DE have multilocular cystic nephroma, a benign kidney tumor.
SY PPB familial tumor and dysplasia syndrome.
SY PPBFTDS.
DR MIM; 601200; phenotype.
DR MedGen; C1266144.
DR MeSH; D012142.
//
ID Poikiloderma with neutropenia.
AC DI-02620
AR PN.
DE A genodermatosis characterized by poikiloderma, pachyonychia and
DE chronic neutropenia. The disorder starts as a papular erythematous
DE rash on the limbs during the first year of life. It gradually spreads
DE centripetally and, as the papular rash resolves, hypo- and
DE hyperpigmentation result, with development of telangiectasias. Another
DE skin manifestation is pachyonychia, but alopecia and leukoplakia are
DE distinctively absent. Patients have recurrent pneumonias that usually
DE result in reactive airway disease and/or chronic cough. One of the
DE most important extracutaneous symptoms is an increased susceptibility
DE to infections, mainly affecting the respiratory system, primarily due
DE to a chronic neutropenia and to neutrophil functional defects. Bone
DE marrow abnormalities account for neutropenia and may evolve into
DE myelodysplasia associated with the risk of leukemic transformation.
DE Poikiloderma with neutropenia shows phenotypic overlap with Rothmund-
DE Thomson syndrome.
SY Clericuzio-type poikiloderma neutropenia syndrome.
SY Poikiloderma with neutropenia Clericuzio-type.
DR MIM; 604173; phenotype.
DR MedGen; C1858723.
DR MeSH; D012868.
//
ID Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis.
AC DI-04046
AR POIKTMP.
DE An autosomal dominant form of hereditary poikiloderma, a
DE genodermatosis characterized by mottled pigmentation, telangiectasia,
DE and epidermal atrophy. POIKTMP features include tendon contracture,
DE myopathy, and progressive pulmonary fibrosis. It manifests from early
DE childhood with telangiectasia and pigmentary anomalies especially on
DE the face and sun-exposed areas, tendon contractures that particularly
DE involve the ankles and feet causing gait disturbance, and development
DE of pulmonary fibrosis during the second decade of life resulting in
DE progressive dyspnea and restrictive impairment of lung function.
SY Hereditary sclerosing poikiloderma with tendon and pulmonary involvement.
DR MIM; 615704; phenotype.
DR MedGen; C3810325.
DR MedGen; CN185373.
DR MeSH; D003286.
DR MeSH; D009135.
DR MeSH; D011658.
//
ID Poirier-Bienvenu neurodevelopmental syndrome.
AC DI-05733
AR POBINDS.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE onset of seizures in infancy, developmental delay, impaired
DE intellectual development, and poor or absent speech.
DR MIM; 618732; phenotype.
DR MedGen; CN263151.
DR MeSH; D065886.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Polycystic kidney disease 1 with or without polycystic liver disease.
AC DI-00925
AR PKD1.
DE An autosomal dominant disorder characterized by renal cysts, liver
DE cysts and intracranial aneurysm. Clinical variability is due to
DE differences in the rate of loss of glomerular filtration, the age of
DE reaching end-stage renal disease and the occurrence of hypertension,
DE symptomatic extrarenal cysts, and subarachnoid hemorrhage from
DE intracranial 'berry' aneurysm.
SY ADPKD.
SY ADPKD1.
SY Adult polycystic kidney disease type 1.
SY Autosomal dominant polycystic kidney disease 1.
SY PKD-1.
SY Polycystic kidney disease adult.
SY Polycystic kidney disease type I.
SY Polycystic kidneys.
SY Potter type III polycystic kidney disease.
DR MIM; 173900; phenotype.
DR MedGen; C0085413.
DR MedGen; C1868148.
DR MedGen; C3149841.
DR MeSH; D007690.
DR MeSH; D016891.
KW KW-1186:Ciliopathy.
//
ID Polycystic kidney disease 2 with or without polycystic liver disease.
AC DI-00926
AR PKD2.
DE An autosomal dominant disorder characterized by progressive formation
DE and enlargement of cysts in both kidneys, typically leading to end-
DE stage renal disease in adult life. Cysts also occurs in the liver and
DE other organs. It represents approximately 15% of the cases of
DE autosomal dominant polycystic kidney disease. PKD2 is clinically
DE milder than PKD1 but it has a deleterious impact on overall life
DE expectancy.
SY ADPKD2.
SY Adult polycystic kidney disease type 2.
SY Autosomal dominant polycystic kidney disease 2.
SY PKD-2.
SY Polycystic kidney disease adult type II.
DR MIM; 613095; phenotype.
DR MedGen; C2751306.
DR MeSH; D007690.
DR MeSH; D016891.
KW KW-1186:Ciliopathy.
//
ID Polycystic kidney disease 3 with or without polycystic liver disease.
AC DI-04789
AR PKD3.
DE A form of polycystic kidney disease, a disorder characterized by
DE progressive formation and enlargement of cysts in both kidneys,
DE typically leading to end-stage renal disease in adult life. Cysts also
DE occur in other organs, particularly the liver. PKD3 inheritance is
DE autosomal dominant.
SY APKD3.
SY Polycystic kidney disease, adult, type III.
DR MIM; 600666; phenotype.
DR MedGen; C1418603.
DR MedGen; C3887964.
DR MeSH; D007690.
//
ID Polycystic kidney disease 4, with or without polycystic liver disease.
AC DI-00927
AR PKD4.
DE A severe form of polycystic kidney disease affecting the kidneys and,
DE in some cases, the hepatic biliary tract. The clinical spectrum is
DE widely variable, with most cases presenting during infancy. The fetal
DE phenotypic features classically include enlarged and echogenic
DE kidneys, as well as oligohydramnios secondary to a poor urine output.
DE Up to 50% of the affected neonates die shortly after birth, as a
DE result of severe pulmonary hypoplasia and secondary respiratory
DE insufficiency. In the subset that survives the perinatal period,
DE morbidity and mortality are mainly related to severe systemic
DE hypertension, renal insufficiency, and portal hypertension due to
DE portal-tract fibrosis. PKD4 inheritance is autosomal recessive.
SY ARPKD.
SY Infantile polycystic kidney disease type I.
SY PKD3.
SY PKHD1.
SY Polycystic kidney and hepatic disease 1.
SY Polycystic kidney disease, autosomal recessive.
SY Polycystic kidney disease 4 with or without hepatic disease.
DR MIM; 263200; phenotype.
DR MedGen; C0009714.
DR MedGen; C0085548.
DR MeSH; D016767.
DR MeSH; D017044.
KW KW-1186:Ciliopathy.
//
ID Polycystic kidney disease 5.
AC DI-05069
AR PKD5.
DE A form of polycystic kidney disease, a disorder characterized by
DE progressive formation and enlargement of cysts in both kidneys,
DE typically leading to end-stage renal disease in adult life. Cysts may
DE also occur in other organs, particularly the liver. PKD5 inheritance
DE is autosomal recessive.
DR MIM; 617610; phenotype.
DR MedGen; CN381221.
DR MeSH; D007690.
KW KW-1186:Ciliopathy.
//
ID Polycystic kidney disease 6 with or without polycystic liver disease.
AC DI-05292
AR PKD6.
DE A form of polycystic kidney disease, a disorder characterized by
DE progressive formation and enlargement of cysts in both kidneys,
DE typically leading to end-stage renal disease in adult life. Cysts also
DE occur in other organs, particularly the liver. PKD6 inheritance is
DE autosomal dominant.
DR MIM; 618061; phenotype.
DR MedGen; CN252647.
DR MeSH; D007690.
//
ID Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1.
AC DI-02174
AR PLOSL1.
DE A recessively inherited disease characterized by presenile dementia
DE along with large-scale destruction of cancellous bones. Initial
DE symptoms, starting in the twenties, are pain and swelling resulting
DE from cysts in the wrists and ankles. Extremity bone fractures could
DE occur with minor trauma. At around 30 years of age, patients gradually
DE develop neuropsychiatric symptoms, including epileptic seizures,
DE agnosia, apraxia, speech disorder, memory disturbance, euphoria, and
DE loss of social inhibitions. The disorder usually leads to death in the
DE fifth decade of life.
SY Nasu-Hakola disease.
SY NHD.
SY Presenile dementia with bone cysts.
DR MIM; 221770; phenotype.
DR MedGen; C1857316.
DR MeSH; D001927.
//
ID Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2.
AC DI-05390
AR PLOSL2.
DE An autosomal recessive disease characterized by presenile frontal
DE dementia with leukoencephalopathy and basal ganglia calcification. In
DE most cases the disorder first manifests in early adulthood as pain and
DE swelling in ankles and feet, followed by bone fractures. Neurologic
DE symptoms manifest in the fourth decade of life as a frontal lobe
DE syndrome with loss of judgment, euphoria, and disinhibition.
DE Progressive decline in other cognitive domains begins to develop at
DE about the same time. The disorder culminates in a profound dementia
DE and death by age 50 years.
DR MIM; 618193; phenotype.
DR MedGen; CN257479.
DR MeSH; D001927.
//
ID Polycystic liver disease 1 with or without kidney cysts.
AC DI-02175
AR PCLD1.
DE An autosomal dominant hepatobiliary disease characterized by
DE overgrowth of biliary epithelium and supportive connective tissue,
DE resulting in multiple liver cysts. A subset of patients may develop
DE kidney cysts that usually do not result in clinically significant
DE renal disease.
DR MIM; 174050; phenotype.
DR MedGen; C0158683.
DR MeSH; D003560.
DR MeSH; D008107.
//
ID Polycystic liver disease 2 with or without kidney cysts.
AC DI-04751
AR PCLD2.
DE An autosomal dominant hepatobiliary disease characterized by
DE overgrowth of biliary epithelium and supportive connective tissue,
DE resulting in multiple liver cysts. A subset of patients may develop
DE kidney cysts that usually do not result in clinically significant
DE renal disease.
DR MIM; 617004; phenotype.
DR MedGen; C0158683.
DR MeSH; D003560.
DR MeSH; D008107.
//
ID Polycystic liver disease 3 with or without kidney cysts.
AC DI-05194
AR PCLD3.
DE A form of polycystic liver disease, an autosomal dominant
DE hepatobiliary disease characterized by overgrowth of biliary
DE epithelium and supportive connective tissue, resulting in multiple
DE liver cysts. PCLD3 patients may also develop kidney cysts that usually
DE do not result in clinically significant renal disease.
DR MIM; 617874; phenotype.
DR MedGen; CN818986.
DR MeSH; D003560.
DR MeSH; D008107.
//
ID Polycystic liver disease 4 with or without kidney cysts.
AC DI-05195
AR PCLD4.
DE A form of polycystic liver disease, an autosomal dominant
DE hepatobiliary disease characterized by overgrowth of biliary
DE epithelium and supportive connective tissue, resulting in multiple
DE liver cysts. PCLD4 patients may also develop kidney cysts that usually
DE do not result in clinically significant renal disease.
DR MIM; 617875; phenotype.
DR MedGen; CN818987.
DR MeSH; D003560.
DR MeSH; D008107.
//
ID Polycythemia vera.
AC DI-02712
AR PV.
DE A myeloproliferative disorder characterized by abnormal proliferation
DE of all hematopoietic bone marrow elements, erythroid hyperplasia, an
DE absolute increase in total blood volume, but also by myeloid
DE leukocytosis, thrombocytosis and splenomegaly.
SY Osler-Vaquez disease.
SY Polycythemia rubra vera.
SY PRV.
DR MIM; 263300; phenotype.
DR MedGen; C0032463.
DR MeSH; D011087.
//
ID Polydactyly, postaxial A1.
AC DI-02397
AR PAPA1.
DE A condition characterized by the occurrence of supernumerary digits in
DE the upper and/or lower extremities. In postaxial polydactyly type A,
DE the extra digit is well-formed and articulates with the fifth or a
DE sixth metacarpal/metatarsal.
SY PAPA.
SY Postaxial polydactyly.
SY Postaxial polydactyly type A.
DR MIM; 174200; phenotype.
DR MedGen; C0220697.
DR MeSH; D017689.
//
ID Polydactyly, postaxial A6.
AC DI-03746
AR PAPA6.
DE A condition characterized by the occurrence of supernumerary digits in
DE the upper and/or lower extremities. In postaxial polydactyly type A,
DE the extra digit is well-formed and articulates with the fifth or a
DE sixth metacarpal/metatarsal.
DR MIM; 615226; phenotype.
DR MedGen; C3808889.
DR MedGen; CN169515.
DR MeSH; D017689.
//
ID Polydactyly, postaxial B.
AC DI-03100
AR PAPB.
DE A condition characterized by an extra digit in the occurrence of
DE supernumerary digits in the upper and/or lower extremities. In
DE postaxial polydactyly type B the extra digit is not well formed and is
DE frequently in the form of a skin.
DR MIM; 174200; phenotype.
DR MedGen; C1868120.
DR MeSH; D017689.
//
ID Polydactyly, postaxial, A10.
AC DI-05613
AR PAPA10.
DE A form of postaxial polydactyly, a condition characterized by the
DE occurrence of supernumerary digits in the upper and/or lower
DE extremities. In postaxial polydactyly type A, the extra digit is well-
DE formed and articulates with the fifth or a sixth
DE metacarpal/metatarsal. PAPA10 is an autosomal recessive condition
DE characterized by one or more postaxial digits of the hands and/or
DE feet. A rudimentary digit (PAP type B) may also be present.
DE Intrafamilial variability has been observed.
DR MIM; 618498; phenotype.
DR MedGen; CN260589.
DR MeSH; D017689.
//
ID Polydactyly, postaxial, A7.
AC DI-05052
AR PAPA7.
DE A form of postaxial polydactyly, a condition characterized by the
DE occurrence of supernumerary digits in the upper and/or lower
DE extremities. In postaxial polydactyly type A, the extra digit is well-
DE formed and articulates with the fifth or a sixth
DE metacarpal/metatarsal. PAPA7 is an autosomal recessive condition
DE characterized by postaxial polydactyly restricted to the feet.
SY Polydactyly, postaxial, type A7.
DR MIM; 617642; phenotype.
DR MedGen; CN417139.
DR MeSH; D017689.
//
ID Polydactyly, postaxial, A8.
AC DI-05336
AR PAPA8.
DE A form of postaxial polydactyly, a condition characterized by the
DE occurrence of supernumerary digits in the upper and/or lower
DE extremities. In postaxial polydactyly type A, the extra digit is well-
DE formed and articulates with the fifth or a sixth
DE metacarpal/metatarsal. PAPA8 is an autosomal recessive condition
DE characterized by the presence of postaxial extra digits (hexadactyly)
DE on the hands and/or the feet.
SY Polydactyly, postaxial, type A8.
DR MIM; 618123; phenotype.
DR MedGen; CN253836.
DR MeSH; D017689.
//
ID Polydactyly, postaxial, A9.
AC DI-05433
AR PAPA9.
DE A form of postaxial polydactyly, a condition characterized by the
DE occurrence of supernumerary digits in the upper and/or lower
DE extremities. In postaxial polydactyly type A, the extra digit is well-
DE formed and articulates with the fifth or a sixth
DE metacarpal/metatarsal. PAPA9 is an autosomal recessive condition
DE characterized by one or more posterior or postaxial digits.
DR MIM; 618219; phenotype.
DR MedGen; CN257493.
DR MeSH; D017689.
//
ID Polydactyly, preaxial 1.
AC DI-05578
AR PPD1.
DE A form of polydactyly, a condition defined by the occurrence of
DE supernumerary digits in the upper and/or lower extremities. Preaxial
DE or radial polydactyly refers to the presence of extra digits on the
DE radial side of the hand. PPD1 is an autosomal recessive form
DE characterized by duplication of the distal phalanx of the thumb.
SY Polydactyly, preaxial I.
DR MIM; 174400; phenotype.
DR MedGen; C1868116.
DR MeSH; D017689.
//
ID Polydactyly, preaxial 4.
AC DI-02401
AR PPD4.
DE A form of polydactyly, a condition defined by the occurrence of
DE supernumerary digits in the upper and/or lower extremities. Preaxial
DE or radial polydactyly refers to the presence of extra digits on the
DE radial side of the hand. PPD4 is an autosomal dominant form
DE characterized by mild duplication of the thumb, syndactyly of various
DE degrees affects fingers 3 and 4, duplication of part or all of the
DE first or second toes and variable toes syndactyly. Some patients have
DE only foot involvement.
SY Polysyndactyly, uncomplicated.
SY Type IV preaxial polydactyly.
DR MIM; 174700; phenotype.
DR MedGen; C1868111.
DR MedGen; C1868112.
DR MeSH; D017689.
//
ID Polyendocrine-polyneuropathy syndrome.
AC DI-04291
AR PEPNS.
DE A progressive endocrine and neurodevelopmental disorder manifesting
DE early in childhood with growth retardation and recurrent episodes of
DE profound asymptomatic hypoglycemia. PEPNS is characterized by central
DE hypothyroidism, hypogonadotropic hypogonadism, incomplete puberty,
DE progressive non-autoimmune insulin-dependent diabetes mellitus,
DE peripheral demyelinating sensorimotor polyneuropathy, and cerebellar
DE and pyramidal signs.
DR MIM; 616113; phenotype.
DR MedGen; CN221664.
DR MeSH; D003920.
DR MeSH; D007006.
DR MeSH; D011115.
KW KW-0219:Diabetes mellitus.
KW KW-0622:Neuropathy.
KW KW-1016:Hypogonadotropic hypogonadism.
//
ID Polyglucosan body myopathy 1 with or without immunodeficiency.
AC DI-04157
AR PGBM1.
DE A disease characterized by polyglucosan storage myopathy associated
DE with early-onset progressive muscle weakness and progressive dilated
DE cardiomyopathy, which may necessitate cardiac transplant in severe
DE cases. Some patients present with severe immunodeficiency, invasive
DE bacterial infections and chronic autoinflammation.
SY PBMEI.
SY Polyglucosan body myopathy, early-onset, with or without immunodeficiency.
DR MIM; 615895; phenotype.
DR MedGen; CN196923.
DR MeSH; D009202.
DR MeSH; D018908.
//
ID Polyglucosan body myopathy 2.
AC DI-04312
AR PGBM2.
DE A glycogen storage disease characterized by polyglucosan accumulation
DE in muscle, and skeletal myopathy without cardiac involvement. Most
DE patients manifest slowly progressive, hip girdle, shoulder girdle,
DE and/or hand and leg muscle weakness. Polyglucosan contains abnormally
DE long and poorly branched glucosyl chains and is variably resistant to
DE digestion by alpha-amylase.
DR MIM; 616199; phenotype.
DR MedGen; CN225346.
DR MeSH; D006008.
DR MeSH; D009135.
KW KW-0322:Glycogen storage disease.
//
ID Polyglucosan body neuropathy, adult form.
AC DI-00052
AR APBN.
DE A late-onset, slowly progressive disorder affecting the central and
DE peripheral nervous systems. Patients typically present after age 40
DE years with a variable combination of cognitive impairment, pyramidal
DE tetraparesis, peripheral neuropathy, and neurogenic bladder. Other
DE manifestations include cerebellar dysfunction and extrapyramidal
DE signs. The pathologic hallmark of APBN is the widespread accumulation
DE of round, intracellular polyglucosan bodies throughout the nervous
DE system, which are confined to neuronal and astrocytic processes.
SY Adult polyglucosan body disease.
SY APBD.
SY Polyglucosan body disease, adult form.
DR MIM; 263570; phenotype.
DR MedGen; C1849722.
DR MeSH; D009422.
KW KW-0622:Neuropathy.
//
ID Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome.
AC DI-05505
AR PMGEDSV.
DE An autosomal recessive disorder with a highly variable phenotype and
DE onset in early childhood. Disease features include cobblestone-like
DE malformation of the cortex, polymicrogyria, intellectual and motor
DE developmental delay, small joint hypermobility, vascular fragility,
DE aneurysms, thin translucent skin and easy bruising, congenital heart
DE defects, and foot deformities. Early death due to vascular dissection
DE may occur.
SY Polymicrogyria with or without vascular-type EDS.
DR MIM; 618343; phenotype.
DR MedGen; CN258233.
DR MeSH; D004535.
DR MeSH; D065706.
KW KW-0248:Ehlers-Danlos syndrome.
//
ID Polymicrogyria, bilateral frontoparietal.
AC DI-01281
AR BFPP.
DE A malformation of the cortex in which the brain surface is irregular
DE and characterized by an excessive number of small gyri with abnormal
DE lamination, most severe in the frontoparietal regions. BFPP clinical
DE manifestations include developmental and psychomotor delay, cerebellar
DE and pyramidal signs, truncal ataxia, seizures, hyperreflexia.
DE Polymicrogyria is a heterogeneous disorder, considered to be the
DE result of postmigratory abnormal cortical organization.
SY Cerebellar ataxia with neuronal migration defect.
DR MIM; 606854; phenotype.
DR MedGen; C1847352.
DR MeSH; D054220.
//
ID Polymicrogyria, bilateral perisylvian, autosomal recessive.
AC DI-04104
AR BPPR.
DE A form of polymicrogyria, a malformation of the cortex in which the
DE brain surface is irregular and characterized by an excessive number of
DE small gyri with abnormal lamination. BPPR is characterized by
DE strikingly restricted polymicrogyria limited to the cortex surrounding
DE the Sylvian fissure. Affected individuals have intellectual and
DE language difficulty and seizures, but no motor disability.
DE Polymicrogyria is a heterogeneous disorder, considered to be the
DE result of post-migratory abnormal cortical organization.
SY PMGR.
DR MIM; 615752; phenotype.
DR MedGen; C3810405.
DR MedGen; CN186195.
DR MeSH; D054220.
//
ID Polymicrogyria, bilateral temporooccipital.
AC DI-04237
AR BTOP.
DE A disease characterized by temporo-occipital polymicrogyria,
DE psychiatric manifestations, and epilepsy.
DR MIM; 612691; phenotype.
DR MedGen; C2675191.
DR MeSH; D065706.
//
ID Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract.
AC DI-02920
AR PHARC.
DE A slowly progressive neurologic disorder with a variable phenotype
DE resembling Refsum disease. Clinical features include sensorineural
DE hearing loss, visual problems related to cataracts, retinitis
DE pigmentosa, pes cavus, ataxic and/or spastic gait disturbances with a
DE progressive sensorimotor peripheral neuropathy. Other features include
DE hyporeflexia, hyperreflexia, extensor plantar responses.
DR MIM; 612674; phenotype.
DR MedGen; C2675204.
DR MeSH; D001259.
DR MeSH; D002386.
DR MeSH; D006319.
DR MeSH; D012174.
DR MeSH; D015417.
KW KW-0209:Deafness.
KW KW-0622:Neuropathy.
KW KW-0682:Retinitis pigmentosa.
KW KW-0898:Cataract.
//
ID Polyposis syndrome, mixed hereditary 1.
AC DI-03478
AR HMPS1.
DE A disease characterized by apparent autosomal dominant inheritance of
DE multiple types of colorectal polyp, with colorectal carcinoma
DE occurring in a high proportion of affected individuals. Patients can
DE develop polyps of multiple and mixed morphologies, including serrated
DE lesions, Peutz-Jeghers polyps, juvenile polyps, conventional adenomas
DE and colorectal carcinoma in the absence of any identifiable extra-
DE colonic features.
SY Colorectal adenoma and carcinoma 1.
SY CRAC1.
DR MIM; 601228; phenotype.
DR MedGen; C1832587.
DR MeSH; D018256.
//
ID Polyposis syndrome, mixed hereditary 2.
AC DI-01724
AR HMPS2.
DE A disease is characterized by atypical juvenile polyps, colonic
DE adenomas, and colorectal carcinomas.
DR MIM; 610069; phenotype.
DR MedGen; C1864730.
DR MeSH; D018256.
//
ID Pontocerebellar hypoplasia 10.
AC DI-04087
AR PCH10.
DE A form of pontocerebellar hypoplasia, a disorder characterized by
DE structural defects of the pons and cerebellum, evident upon brain
DE imaging. PCH10 features include cortical dysgenesis marked by a
DE simplified gyral pattern, cortical atrophy, mild or focal cerebellar
DE vermian volume loss, delayed myelination, progressive microcephaly,
DE global growth and developmental delays, severe intellectual
DE disabilities, and seizures refractory to treatment.
DR MIM; 615803; phenotype.
DR MedGen; CN188186.
DR MeSH; D002526.
KW KW-0523:Neurodegeneration.
//
ID Pontocerebellar hypoplasia 11.
AC DI-05084
AR PCH11.
DE A non-degenerative form of pontocerebellar hypoplasia, a disorder
DE characterized by structural defects of the pons and cerebellum,
DE evident upon brain imaging. PCH11 features include severely delayed
DE psychomotor development with intellectual disability and poor speech,
DE microcephaly, dysmorphic features, and pontocerebellar hypoplasia.
DE PCH11 inheritance is autosomal recessive.
SY Pontocerebellar hypoplasia, type 11.
DR MIM; 617695; phenotype.
DR MedGen; CN502750.
DR MeSH; D002526.
//
ID Pontocerebellar hypoplasia 12.
AC DI-05445
AR PCH12.
DE A form of pontocerebellar hypoplasia, a disorder characterized by
DE structural defects of the pons and cerebellum, evident upon brain
DE imaging. PCH12 is an autosomal recessive form characterized by onset
DE in utero and death in infancy. Brain imaging shows microcephaly,
DE cerebellar hypoplasia, micrognathia, and multiple contractures.
DR MIM; 618266; phenotype.
DR MedGen; CN258054.
DR MeSH; D002526.
//
ID Pontocerebellar hypoplasia 13.
AC DI-05671
AR PCH13.
DE A form of pontocerebellar hypoplasia, a disorder characterized by
DE structural defects of the pons and cerebellum, evident upon brain
DE imaging. PCH13 is an autosomal recessive form characterized by delayed
DE psychomotor development, absent speech, severe intellectual disability
DE and postnatal microcephaly, with brain malformations consisting of
DE cerebellar atrophy and hypoplastic corpus callosum. Additional
DE features, including seizures and visual impairment, are variable.
DR MIM; 618606; phenotype.
DR MedGen; CN262355.
DR MeSH; D002526.
KW KW-0991:Intellectual disability.
//
ID Pontocerebellar hypoplasia 14.
AC DI-06087
AR PCH14.
DE A form of pontocerebellar hypoplasia, a disorder characterized by
DE structural defects of the pons and cerebellum, evident upon brain
DE imaging. PCH14 is a severe autosomal recessive form characterized by
DE progressive microcephaly, and poor or absent psychomotor development
DE with severely impaired intellectual development apparent from birth.
DE Other features may include hypotonia, spastic quadriplegia, and early-
DE onset seizures. Early death may occur in some patients.
DR MIM; 619301; phenotype.
DR MedGen; CN296511.
DR MeSH; D002526.
KW KW-0991:Intellectual disability.
//
ID Pontocerebellar hypoplasia 15.
AC DI-06088
AR PCH15.
DE A form of pontocerebellar hypoplasia, a disorder characterized by
DE structural defects of the pons and cerebellum, evident upon brain
DE imaging. PCH15 is a severe autosomal recessive form characterized by
DE progressive microcephaly, and poor or absent psychomotor development
DE with severely impaired intellectual development apparent from birth.
DE Other features may include spastic quadriplegia, early-onset seizures,
DE and chronic anemia and thrombocytopenia.
DR MIM; 619302; phenotype.
DR MedGen; CN296512.
DR MeSH; D002526.
KW KW-0991:Intellectual disability.
//
ID Pontocerebellar hypoplasia 16.
AC DI-06227
AR PCH16.
DE A form of pontocerebellar hypoplasia, a disorder characterized by
DE structural defects of the pons and cerebellum, evident upon brain
DE imaging. PCH16 is an autosomal recessive, severe form characterized by
DE hypotonia and severe global developmental delay apparent from early
DE infancy. Other features may include stereotypic movements, spasticity,
DE and progressive microcephaly.
DR MIM; 619527; phenotype.
DR MedGen; CN300499.
DR MeSH; D002526.
//
ID Pontocerebellar hypoplasia 1A.
AC DI-02626
AR PCH1A.
DE A disorder characterized by an abnormally small cerebellum and
DE brainstem, central and peripheral motor dysfunction from birth,
DE gliosis and spinal cord anterior horn cells degeneration resembling
DE infantile spinal muscular atrophy. Additional features include muscle
DE hypotonia, congenital contractures and respiratory insufficiency that
DE is evident at birth.
SY Pontocerebellar hypoplasia with anterior horn cell disease.
SY Pontocerebellar hypoplasia with infantile spinal muscular atrophy.
DR MIM; 607596; phenotype.
DR MedGen; C1843504.
DR MeSH; D002526.
KW KW-0523:Neurodegeneration.
//
ID Pontocerebellar hypoplasia 1B.
AC DI-03477
AR PCH1B.
DE A severe autosomal recessive neurologic disorder characterized by a
DE combination of cerebellar and spinal motor neuron degeneration
DE beginning at birth. There is diffuse muscle weakness, progressive
DE microcephaly, global developmental delay, and brainstem involvement.
DR MIM; 614678; phenotype.
DR MedGen; C3553449.
DR MedGen; CN128720.
DR MeSH; D002526.
KW KW-0523:Neurodegeneration.
//
ID Pontocerebellar hypoplasia 1C.
AC DI-04273
AR PCH1C.
DE A severe autosomal recessive neurodegenerative disease characterized
DE by cerebellar and corpus callosum hypoplasia, abnormal myelination of
DE the central nervous system, and spinal motor neuron disease. Affected
DE individuals manifest failure to thrive, severe muscle weakness,
DE spasticity and psychomotor retardation. Vision and hearing are
DE impaired.
DR MIM; 616081; phenotype.
DR MedGen; CN221091.
DR MeSH; D002526.
KW KW-0523:Neurodegeneration.
//
ID Pontocerebellar hypoplasia 1D.
AC DI-05293
AR PCH1D.
DE An autosomal recessive neurologic disorder with onset at birth or in
DE infancy, and characterized by progressive axonal motor neuronopathy,
DE severe generalized hypotonia, respiratory insufficiency, and
DE cerebellar atrophy. Death in childhood may occur.
SY Pontocerebellar hypoplasia, type 1D.
DR MIM; 618065; phenotype.
DR MedGen; CN252648.
DR MeSH; D002526.
KW KW-0523:Neurodegeneration.
//
ID Pontocerebellar hypoplasia 1E.
AC DI-06092
AR PCH1E.
DE A form of pontocerebellar hypoplasia, a disorder characterized by
DE structural defects of the pons and cerebellum, evident upon brain
DE imaging. PCH1E is an autosomal recessive form characterized by severe
DE hypotonia and respiratory insufficiency apparent soon after birth.
DE Additional features may include optic atrophy, peripheral neuropathy,
DE dysmorphic features, congenital contracture or foot deformities, and
DE seizures. Death occurs in the first days or weeks of life. Postmortem
DE brain imaging show pontocerebellar atrophy and loss of anterior motor
DE neurons in the spinal cord.
DR MIM; 619303; phenotype.
DR MedGen; CN296586.
DR MeSH; D002526.
KW KW-0523:Neurodegeneration.
//
ID Pontocerebellar hypoplasia 1F.
AC DI-06093
AR PCH1F.
DE A form of pontocerebellar hypoplasia, a disorder characterized by
DE structural defects of the pons and cerebellum, evident upon brain
DE imaging. PCH1F is an autosomal recessive form characterized by
DE hypotonia, global developmental delay, poor overall growth, and
DE dysmorphic facial features. Brain imaging shows pontocerebellar
DE hypoplasia, thin corpus callosum, cerebral atrophy, and delayed
DE myelination.
DR MIM; 619304; phenotype.
DR MedGen; CN296587.
DR MeSH; D002526.
KW KW-0523:Neurodegeneration.
//
ID Pontocerebellar hypoplasia 2A.
AC DI-02176
AR PCH2A.
DE A disorder characterized by an abnormally small cerebellum and
DE brainstem, and progressive microcephaly from birth combined with
DE extrapyramidal dyskinesia. Severe chorea occurs and epilepsy is
DE frequent. There are no signs of spinal cord anterior horn cells
DE degeneration.
SY PCH2.
SY Pontocerebellar hypoplasia with progressive cerebral atrophy.
SY Volendam neurodegenerative disease.
DR MIM; 277470; phenotype.
DR MedGen; C1848526.
DR MeSH; D002526.
KW KW-0523:Neurodegeneration.
//
ID Pontocerebellar hypoplasia 2B.
AC DI-02177
AR PCH2B.
DE A disorder characterized by an abnormally small cerebellum and
DE brainstem, and progressive microcephaly from birth combined with
DE extrapyramidal dyskinesia. Severe chorea occurs and epilepsy is
DE frequent. There are no signs of spinal cord anterior horn cells
DE degeneration.
DR MIM; 612389; phenotype.
DR MedGen; C2676466.
DR MeSH; D002526.
KW KW-0523:Neurodegeneration.
//
ID Pontocerebellar hypoplasia 2C.
AC DI-02178
AR PCH2C.
DE A disorder characterized by an abnormally small cerebellum and
DE brainstem, and progressive microcephaly from birth combined with
DE extrapyramidal dyskinesia. Severe chorea occurs and epilepsy is
DE frequent. There are no signs of spinal cord anterior horn cells
DE degeneration.
DR MIM; 612390; phenotype.
DR MedGen; C2676465.
DR MeSH; D002526.
KW KW-0523:Neurodegeneration.
//
ID Pontocerebellar hypoplasia 2D.
AC DI-03066
AR PCH2D.
DE A disorder characterized by postnatal onset of progressive atrophy of
DE the cerebrum and cerebellum, microcephaly, profound intellectual
DE disability, spasticity, and variable seizures.
SY PCCA.
SY Progressive cerebellocerebral atrophy.
SY Progressive cerebello-cerebral atrophy.
DR MIM; 613811; phenotype.
DR MedGen; C3151140.
DR MeSH; D002526.
KW KW-0523:Neurodegeneration.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Pontocerebellar hypoplasia 2E.
AC DI-04128
AR PCH2E.
DE An autosomal recessive neurodegenerative disorder characterized by
DE progressive cerebello-cerebral atrophy, profound intellectual
DE disability, progressive microcephaly, spasticity, and early-onset
DE epilepsy.
SY PCCA2.
SY Progressive cerebello-cerebral atrophy type 2.
DR MIM; 615851; phenotype.
DR MedGen; CN188960.
DR MeSH; D002526.
KW KW-0523:Neurodegeneration.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Pontocerebellar hypoplasia 2F.
AC DI-04758
AR PCH2F.
DE A neurodevelopmental disorder characterized by progressive
DE microcephaly, cognitive and motor delay, poor or absent speech,
DE seizures, and spasticity. PCH2F inheritance is autosomal recessive.
DR MIM; 617026; phenotype.
DR MedGen; CN237391.
DR MeSH; D002526.
//
ID Pontocerebellar hypoplasia 3.
AC DI-04470
AR PCH3.
DE A form of pontocerebellar hypoplasia, a disorder characterized by
DE structural defects of the pons and cerebellum. Brain MRI shows an
DE abnormally small cerebellum and brainstem, decreased cerebral white
DE matter, and a thin corpus callosum. PCH3 features include seizures,
DE short stature, optic atrophy, progressive microcephaly, severe
DE developmental delay.
SY Cerebellar atrophy with progressive microcephaly.
SY CLAM.
SY PCH with optic atrophy.
DR MIM; 608027; phenotype.
DR MedGen; C1842687.
DR MeSH; D002526.
KW KW-0523:Neurodegeneration.
//
ID Pontocerebellar hypoplasia 4.
AC DI-02179
AR PCH4.
DE A disorder characterized by an abnormally small cerebellum and
DE brainstem, severe neonatal encephalopathy, microcephaly, myoclonus and
DE muscular hypertonia. There is a severe inferior olivary and pontine
DE neuronal loss and a diffuse white matter gliosis.
SY Encephalopathy fatal infantile with olivopontocerebellar hypoplasia.
DR MIM; 225753; phenotype.
DR MedGen; C1856974.
DR MeSH; D009849.
KW KW-0523:Neurodegeneration.
//
ID Pontocerebellar hypoplasia 5.
AC DI-04348
AR PCH5.
DE A form of pontocerebellar hypoplasia, a disorder characterized by
DE structural defects of the pons and cerebellum. Brain MRI shows an
DE abnormally small cerebellum and brainstem, decreased cerebral white
DE matter, and a thin corpus callosum.
SY Olivopontocerebellar hypoplasia, fetal-onset.
SY Pontocerebellar hypoplasia type 5.
DR MIM; 610204; phenotype.
DR MedGen; C1857762.
DR MeSH; D002526.
KW KW-0523:Neurodegeneration.
//
ID Pontocerebellar hypoplasia 6.
AC DI-02180
AR PCH6.
DE A disorder characterized by an abnormally small cerebellum and
DE brainstem, infantile encephalopathy, generalized hypotonia, lethargy
DE and poor feeding. Recurrent apnea, intractable seizures occur early in
DE the course of this condition.
SY Fatal infantile encephalopathy with mitochondrial respiratory chain defects.
DR MIM; 611523; phenotype.
DR MedGen; C1969084.
DR MeSH; D002526.
KW KW-0523:Neurodegeneration.
//
ID Pontocerebellar hypoplasia 7.
AC DI-04978
AR PCH7.
DE A form of pontocerebellar hypoplasia, a group of related disorders
DE characterized by underdevelopment of the pons and the cerebellum.
DE Pontocerebellar hypoplasia also causes impaired growth of other parts
DE of the brain, leading to an unusually small head size. PCH7 patients
DE manifest delayed psychomotor development, hypotonia, breathing
DE abnormalities, and gonadal abnormalities.
DR MIM; 614969; phenotype.
DR MedGen; C3554226.
DR MeSH; D002526.
KW KW-0523:Neurodegeneration.
//
ID Pontocerebellar hypoplasia 8.
AC DI-03633
AR PCH8.
DE An autosomal recessive neurodevelopmental disorder characterized by
DE severe psychomotor retardation, abnormal movements, hypotonia,
DE spasticity, and variable visual defects. Brain MRI shows
DE pontocerebellar hypoplasia, decreased cerebral white matter, and a
DE thin corpus callosum.
DR MIM; 614961; phenotype.
DR MedGen; C3554209.
DR MedGen; CN162972.
DR MeSH; D002526.
KW KW-0523:Neurodegeneration.
//
ID Pontocerebellar hypoplasia 9.
AC DI-04088
AR PCH9.
DE A form of pontocerebellar hypoplasia, a disorder characterized by
DE structural defects of the pons and cerebellum, evident upon brain
DE imaging. PCH9 features include severely delayed psychomotor
DE development, progressive microcephaly, spasticity, seizures, and brain
DE abnormalities, including brain atrophy, thin corpus callosum, and
DE delayed myelination.
DR MIM; 615809; phenotype.
DR MedGen; CN188188.
DR MeSH; D002526.
KW KW-0523:Neurodegeneration.
//
ID Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal.
AC DI-05789
AR PHRINL.
DE An autosomal recessive multisystem disorder with onset in utero and
DE death in the neonatal period. Affected infants show respiratory
DE insufficiency and almost no spontaneous movement at birth. Additional
DE features include corneal clouding, seizures, dysmorphic facies,
DE contractures, and progressive pontocerebellar hypoplasia with
DE simplified gyral pattern and white matter abnormalities. Some patients
DE may have cardiac anomalies or cardiac hypertrophy.
SY PHRINL syndrome.
DR MIM; 618810; phenotype.
DR MedGen; CN263387.
DR MeSH; D000015.
DR MeSH; D002526.
//
ID Popliteal pterygium syndrome.
AC DI-02181
AR PPS.
DE An autosomal dominant disorder characterized by oro-facial, skin and
DE genital anomalies. Expressivity is variable. Clinical features include
DE cleft lip/palate, lower lip cysts, syngnathia, congenital
DE ankyloblepharon filiforme in some cases, bifid scrotum, hypoplastic
DE scrotum, hypoplastic uterus, talipes equinovarus.
SY Cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies.
SY Faciogenitopopliteal syndrome.
DR MIM; 119500; phenotype.
DR MedGen; C0265259.
DR MeSH; D011625.
//
ID Poretti-Boltshauser syndrome.
AC DI-04197
AR PTBHS.
DE An autosomal recessive disorder characterized by cerebellar dysplasia,
DE cerebellar vermis atrophy, cerebellar cysts in most patients, high
DE myopia, variable retinal dystrophy, and eye movement abnormalities
DE including strabismus, ocular apraxia, nystagmus. Affected individuals
DE have ataxia, delayed motor development, language impairment, and
DE intellectual disability with variable severity.
DR MIM; 615960; phenotype.
DR MedGen; CN218429.
DR MeSH; D002526.
DR MeSH; D015835.
DR MeSH; D019954.
//
ID Porokeratosis 1, multiple types.
AC DI-04570
AR POROK1.
DE A form of porokeratosis, a disorder of faulty keratinization
DE characterized by one or more atrophic patches surrounded by a
DE distinctive hyperkeratotic ridgelike border called the cornoid
DE lamella. The keratotic lesions can progress to overt cutaneous
DE neoplasms, typically squamous cell carcinomas. Multiple clinical
DE variants of porokeratosis are recognized, including porokeratosis of
DE Mibelli, linear porokeratosis, disseminated superficial actinic
DE porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis.
DE Different clinical presentations can be observed among members of the
DE same family. Individuals expressing more than one variant have also
DE been reported.
SY Porokeratosis 1, Mibelli type.
SY Porokeratosis of Mibelli.
DR MIM; 175800; phenotype.
DR MedGen; C0949506.
DR MeSH; D017499.
//
ID Porokeratosis 3, multiple types.
AC DI-01490
AR POROK3.
DE A form of porokeratosis, a disorder of faulty keratinization
DE characterized by one or more atrophic patches surrounded by a
DE distinctive hyperkeratotic ridgelike border called the cornoid
DE lamella. The keratotic lesions can progress to overt cutaneous
DE neoplasms, typically squamous cell carcinomas. Multiple clinical
DE variants of porokeratosis are recognized, including porokeratosis of
DE Mibelli, linear porokeratosis, disseminated superficial actinic
DE porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis.
DE Different clinical presentations can be observed among members of the
DE same family. Individuals expressing more than one variant have also
DE been reported.
SY Disseminated superficial actinic porokeratosis 1.
SY DSAP1.
SY Porokeratosis, disseminated superficial actinic, 1.
SY Porokeratosis 3, disseminated superficial actinic type.
DR MIM; 175900; phenotype.
DR MedGen; C1867981.
DR MeSH; D017499.
//
ID Porokeratosis 7, multiple types.
AC DI-04571
AR POROK7.
DE A form of porokeratosis, a disorder of faulty keratinization
DE characterized by one or more atrophic patches surrounded by a
DE distinctive hyperkeratotic ridgelike border called the cornoid
DE lamella. The keratotic lesions can progress to overt cutaneous
DE neoplasms, typically squamous cell carcinomas. Multiple clinical
DE variants of porokeratosis are recognized, including porokeratosis of
DE Mibelli, linear porokeratosis, disseminated superficial actinic
DE porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis.
DE Different clinical presentations can be observed among members of the
DE same family. Individuals expressing more than one variant have also
DE been reported.
SY Porokeratosis 7, disseminated superficial actinic type.
DR MIM; 614714; phenotype.
DR MedGen; C0265970.
DR MedGen; C3553549.
DR MeSH; D017499.
//
ID Porokeratosis 8, disseminated superficial actinic type.
AC DI-04250
AR POROK8.
DE A form of porokeratosis, a disorder of faulty keratinization
DE characterized by one or more atrophic patches surrounded by a
DE distinctive hyperkeratotic ridgelike border called the cornoid
DE lamella. The keratotic lesions can progress to overt cutaneous
DE neoplasms, typically squamous cell carcinomas. Multiple clinical
DE variants of porokeratosis are recognized, including porokeratosis of
DE Mibelli, linear porokeratosis, disseminated superficial actinic
DE porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis.
DE Disseminated superficial actinic porokeratosis (DSAP) is the most
DE common subtype. It is characterized by multiple small, annular,
DE anhidrotic, keratotic lesions that are located predominantly on sun-
DE exposed areas of the skin, such as the face, neck, and distal limbs.
DE The lesions typically begin to develop in adolescence and reach near-
DE complete penetrance by the third or fourth decade of life.
DR MIM; 616063; phenotype.
DR MedGen; CN220507.
DR MeSH; D017499.
//
ID Porokeratosis 9, multiple types.
AC DI-04569
AR POROK9.
DE A form of porokeratosis, a disorder of faulty keratinization
DE characterized by one or more atrophic patches surrounded by a
DE distinctive hyperkeratotic ridgelike border called the cornoid
DE lamella. The keratotic lesions can progress to overt cutaneous
DE neoplasms, typically squamous cell carcinomas. Multiple clinical
DE variants of porokeratosis are recognized, including porokeratosis of
DE Mibelli, linear porokeratosis, disseminated superficial actinic
DE porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis.
DE Different clinical presentations can be observed among members of the
DE same family. Individuals expressing more than one variant have also
DE been reported.
DR MIM; 616631; phenotype.
DR MedGen; CN233216.
DR MeSH; D017499.
//
ID Portal hypertension, non-cirrhotic.
AC DI-04803
AR NCPH.
DE An autosomal recessive disorder characterized by portal hypertension
DE associated with hepatosplenomegaly, in absence of cirrhosis,
DE extrahepatic diseases, and splanchnic venous thrombosis. Portal
DE hypertension is defined by a portal venous system pressure that is at
DE least 5 mm Hg higher than the pressure in the inferior vena cava. High
DE pressure in the portal venous system leads to shunting of blood
DE through vessels that are poorly suited to carrying large blood
DE volumes, resulting in collateral circulation and splenomegaly. NCPH
DE patients show normal liver function.
SY Portal hypertension, noncirrhotic.
DR MIM; 617068; phenotype.
DR MedGen; CN237800.
DR MeSH; D006975.
//
ID Portal hypertension, non-cirrhotic, 2.
AC DI-06180
AR NCPH2.
DE An autosomal recessive disorder characterized by portal hypertension
DE associated with hepatosplenomegaly, in absence of cirrhosis. Portal
DE hypertension is defined by a portal venous system pressure that is at
DE least 5 mm Hg higher than the pressure in the inferior vena cava. High
DE pressure in the portal venous system leads to shunting of blood
DE through vessels that are poorly suited to carrying large blood
DE volumes, resulting in collateral circulation and splenomegaly. NCPH2
DE patients have jaundice, hyperbilirubinemia, pancytopenia, including
DE neutropenia, lymphopenia, and thrombocytopenia, hepatosplenomegaly,
DE and esophageal varices. Some patients may have recurrent infections or
DE features suggestive of an immunodeficiency.
DR MIM; 619463; phenotype.
DR MedGen; CN300302.
DR MeSH; D006975.
//
ID Postaxial acrofacial dysostosis.
AC DI-02571
AR POADS.
DE POADS is characterized by severe micrognathia, cleft lip and/or
DE palate, hypoplasia or aplasia of the posterior elements of the limbs,
DE coloboma of the eyelids and supernumerary nipples. POADS is a very
DE rare disorder: only 2 multiplex families, each consisting of 2
DE affected siblings born to unaffected, nonconsanguineous parents, have
DE been described among a total of around 30 reported cases.
SY Miller syndrome.
DR MIM; 263750; phenotype.
DR MedGen; C0265257.
//
ID Posterior column ataxia with retinitis pigmentosa.
AC DI-03015
AR PCARP.
DE A neurodegenerative syndrome beginning in infancy with areflexia and
DE retinitis pigmentosa. Nyctalopia (night blindness) and peripheral
DE visual field loss are usually evident during late childhood or teenage
DE years, with subsequent progressive constriction of the visual fields
DE and loss of central retinal function over time. A sensory ataxia
DE caused by degeneration of the posterior columns of the spinal cord
DE results in a loss of proprioceptive sensation that is clinically
DE evident in the second decade of life and gradually progresses.
DE Scoliosis, camptodactyly, achalasia, gastrointestinal dysmotility, and
DE a sensory peripheral neuropathy are variable features of the disease.
DE Affected individuals have no clinical or radiological evidence of
DE cerebral or cerebellar involvement.
SY AXPC1.
DR MIM; 609033; phenotype.
DR MedGen; C1836916.
DR MeSH; D001259.
DR MeSH; D012174.
KW KW-0523:Neurodegeneration.
KW KW-0682:Retinitis pigmentosa.
//
ID Potocki-Shaffer syndrome.
AC DI-02006
AR POSHS.
DE A syndrome characterized by foramina parietalia permagna, multiple
DE exostoses, and craniofacial dysostosis, and intellectual disability in
DE some cases.
SY Chromosome 11p11.2 deletion syndrome.
DR MIM; 601224; phenotype.
DR MedGen; C1832588.
DR MeSH; D002872.
//
ID Pre-eclampsia/eclampsia 4.
AC DI-02187
AR PEE4.
DE A hypertensive disorder of pregnancy characterized by new hypertension
DE (blood pressure 140/90 or greater) presenting after 20 weeks'
DE gestation with clinically relevant proteinuria. It impacts 2
DE individuals, the mother and her child, both of whom can be severely
DE affected. Preeclampsia is one of the causes of maternal mortality and
DE morbidity worldwide.
SY Gestational proteinuric hypertension.
DR MIM; 609404; phenotype.
DR MedGen; C1836255.
DR MeSH; D004461.
DR MeSH; D011225.
//
ID Pre-eclampsia/eclampsia 5.
AC DI-03420
AR PEE5.
DE A hypertensive disorder of pregnancy characterized by new hypertension
DE (blood pressure 140/90 or greater) presenting after 20 weeks'
DE gestation with clinically relevant proteinuria. It impacts 2
DE individuals, the mother and her child, both of whom can be severely
DE affected. Preeclampsia is one of the causes of maternal mortality and
DE morbidity worldwide.
SY Gestational proteinuric hypertension.
DR MIM; 614595; phenotype.
DR MedGen; C3281288.
DR MeSH; D004461.
DR MeSH; D011225.
//
ID Preaxial polydactyly 2.
AC DI-03095
AR PPD2.
DE Polydactyly consists of duplication of the distal phalanx. The thumb
DE in PPD2 is usually opposable and possesses a normal metacarpal.
DR MIM; 174500; phenotype.
DR MedGen; C1868114.
//
ID Precocious puberty, central 1.
AC DI-01332
AR CPPB1.
DE A condition defined as the development of secondary sexual
DE characteristics in boys and girls at a chronological age that is 2.5
DE standard deviations below the mean age at onset of puberty in the
DE population. Central precocious puberty results from premature
DE activation of the hypothalamic-pituitary-gonadal axis.
DR MIM; 176400; phenotype.
DR MedGen; C0342543.
DR MeSH; D011629.
//
ID Precocious puberty, central 2.
AC DI-03824
AR CPPB2.
DE A condition defined as the development of secondary sexual
DE characteristics in boys and girls at a chronological age that is 2.5
DE standard deviations below the mean age at onset of puberty in the
DE population. Central precocious puberty results from premature
DE activation of the hypothalamic-pituitary-gonadal axis.
DR MIM; 615346; phenotype.
DR MedGen; C3809199.
DR MedGen; CN178220.
DR MeSH; D011629.
//
ID Pregnancy loss, recurrent, 1.
AC DI-03350
AR RPRGL1.
DE A common complication of pregnancy, resulting in spontaneous abortion
DE before the fetus has reached viability. The term includes all
DE miscarriages from the time of conception until 24 weeks of gestation.
DE Recurrent pregnancy loss is defined as 3 or more consecutive
DE spontaneous abortions.
SY Recurrent embryonic loss.
SY Recurrent fetal loss.
SY Recurrent miscarriage.
SY Recurrent stillbirth.
SY RPL.
SY RPRGL.
SY Spontaneous recurrent abortion.
DR MIM; 614389; phenotype.
DR MedGen; C3280670.
DR MeSH; D000026.
//
ID Pregnancy loss, recurrent, 2.
AC DI-03351
AR RPRGL2.
DE A common complication of pregnancy, resulting in spontaneous abortion
DE before the fetus has reached viability. The term includes all
DE miscarriages from the time of conception until 24 weeks of gestation.
DE Recurrent pregnancy loss is defined as 3 or more consecutive
DE spontaneous abortions.
DR MIM; 614390; phenotype.
DR MedGen; C3280672.
DR MeSH; D000026.
//
ID Pregnancy loss, recurrent, 3.
AC DI-03352
AR RPRGL3.
DE A common complication of pregnancy, resulting in spontaneous abortion
DE before the fetus has reached viability. The term includes all
DE miscarriages from the time of conception until 24 weeks of gestation.
DE Recurrent pregnancy loss is defined as 3 or more consecutive
DE spontaneous abortions.
DR MIM; 614391; phenotype.
DR MedGen; C3280674.
DR MeSH; D000026.
//
ID Pregnancy loss, recurrent, 4.
AC DI-04655
AR RPRGL4.
DE A common complication of pregnancy, resulting in spontaneous abortion
DE before the fetus has reached viability. The term includes all
DE miscarriages from the time of conception until 24 weeks of gestation.
DE Recurrent pregnancy loss is defined as 3 or more consecutive
DE spontaneous abortions.
DR MIM; 270960; phenotype.
DR MedGen; C3279437.
DR MeSH; D000026.
//
ID Preimplantation embryonic lethality 1.
AC DI-04651
AR PREMBL1.
DE A rare cause of female primary infertility. In affected women,
DE ovulation proceeds normally and the retrieved oocytes appear normal,
DE but zygote formation and division are severely impaired. Inheritance
DE is autosomal recessive.
DR MIM; 616814; phenotype.
DR MedGen; CN235583.
DR MeSH; D007247.
//
ID Preimplantation embryonic lethality 2.
AC DI-04914
AR PREMBL2.
DE A rare cause of female primary infertility. In affected women,
DE ovulation and fertilization proceed normally but embryos are arrested
DE at early stages of development. Inheritance is autosomal recessive.
DR MIM; 617234; phenotype.
DR MedGen; CN239491.
DR MeSH; D007247.
//
ID Prekallikrein deficiency.
AC DI-02188
AR PKK deficiency.
DE This disorder is a blood coagulation defect.
SY Fletcher factor deficiency.
DR MIM; 612423; phenotype.
DR MedGen; C0272339.
//
ID Premature aging syndrome, Penttinen type.
AC DI-04566
AR PENTT.
DE A syndrome characterized by a prematurely aged appearance with
DE lipoatrophy, epidermal and dermal atrophy along with hypertrophic
DE lesions that resemble scars, thin hair, proptosis, underdeveloped
DE cheekbones, and marked acro-osteolysis.
SY Penttinen-Aula syndrome.
SY Penttinen syndrome.
DR MIM; 601812; phenotype.
DR MedGen; C1866182.
DR MeSH; D011371.
DR MeSH; D030981.
//
ID Premature chromatid separation trait.
AC DI-02189
AR PCS.
DE Consists of separate and splayed chromatids with discernible
DE centromeres and involves all or most chromosomes of a metaphase. It is
DE found in up to 2% of metaphases in cultured lymphocytes from
DE approximately 40% of normal individuals. When PCS is present in 5% or
DE more of cells, it is known as the heterozygous PCS trait and has no
DE obvious phenotypic effect, although some have reported decreased
DE fertility. Inheritance is autosomal dominant.
DR MIM; 176430; phenotype.
DR MedGen; C1864389.
//
ID Premature ovarian failure 1.
AC DI-02518
AR POF1.
DE An ovarian disorder defined as the cessation of ovarian function under
DE the age of 40 years. It is characterized by oligomenorrhea or
DE amenorrhea, in the presence of elevated levels of serum gonadotropins
DE and low estradiol.
SY Hypergonadotropic ovarian failure X-linked.
SY Ovarian failure premature.
SY POF.
SY POFX.
SY POI.
SY Premature ovarian failure X-linked.
SY Primary ovarian insufficiency.
DR MIM; 311360; phenotype.
DR MedGen; C0085215.
DR MedGen; C3494522.
DR MeSH; D016649.
KW KW-1066:Premature ovarian failure.
//
ID Premature ovarian failure 10.
AC DI-04371
AR POF10.
DE An ovarian disorder defined as the cessation of ovarian function under
DE the age of 40 years. It is characterized by oligomenorrhea or
DE amenorrhea, in the presence of elevated levels of serum gonadotropins
DE and low estradiol.
DR MIM; 612885; phenotype.
DR MedGen; C2752067.
DR MeSH; D016649.
KW KW-1066:Premature ovarian failure.
//
ID Premature ovarian failure 11.
AC DI-04722
AR POF11.
DE An ovarian disorder defined as the cessation of ovarian function under
DE the age of 40 years. It is characterized by oligomenorrhea or
DE amenorrhea, in the presence of elevated levels of serum gonadotropins
DE and low estradiol.
DR MIM; 616946; phenotype.
DR MedGen; CN236436.
DR MeSH; D016649.
KW KW-1066:Premature ovarian failure.
//
ID Premature ovarian failure 12.
AC DI-04723
AR POF12.
DE An ovarian disorder defined as the cessation of ovarian function under
DE the age of 40 years. It is characterized by oligomenorrhea or
DE amenorrhea, in the presence of elevated levels of serum gonadotropins
DE and low estradiol.
DR MIM; 616947; phenotype.
DR MedGen; CN236701.
DR MeSH; D016649.
KW KW-1066:Premature ovarian failure.
//
ID Premature ovarian failure 13.
AC DI-04986
AR POF13.
DE An ovarian disorder defined as the cessation of ovarian function under
DE the age of 40 years. It is characterized by oligomenorrhea or
DE amenorrhea, in the presence of elevated levels of serum gonadotropins
DE and low estradiol.
DR MIM; 617442; phenotype.
DR MedGen; CN242237.
DR MeSH; D016649.
KW KW-1066:Premature ovarian failure.
//
ID Premature ovarian failure 14.
AC DI-05263
AR POF14.
DE An ovarian disorder defined as the cessation of ovarian function under
DE the age of 40 years. It is characterized by oligomenorrhea or
DE amenorrhea, in the presence of elevated levels of serum gonadotropins
DE and low estradiol.
DR MIM; 618014; phenotype.
DR MedGen; CN248520.
DR MeSH; D016649.
KW KW-1066:Premature ovarian failure.
//
ID Premature ovarian failure 15.
AC DI-05319
AR POF15.
DE An ovarian disorder defined as the cessation of ovarian function under
DE the age of 40 years. It is characterized by oligomenorrhea or
DE amenorrhea, in the presence of elevated levels of serum gonadotropins
DE and low estradiol.
DR MIM; 618096; phenotype.
DR MedGen; CN253428.
DR MeSH; D016649.
KW KW-1066:Premature ovarian failure.
//
ID Premature ovarian failure 16.
AC DI-05724
AR POF16.
DE An autosomal dominant form of premature ovarian failure, an ovarian
DE disorder defined as the cessation of ovarian function under the age of
DE 40 years. It is characterized by oligomenorrhea or amenorrhea, in the
DE presence of elevated levels of serum gonadotropins and low estradiol.
DR MIM; 618723; phenotype.
DR MedGen; CN263090.
DR MeSH; D016649.
KW KW-1066:Premature ovarian failure.
//
ID Premature ovarian failure 17.
AC DI-05974
AR POF17.
DE A form of premature ovarian failure, an ovarian disorder defined as
DE the cessation of ovarian function under the age of 40 years. It is
DE characterized by oligomenorrhea or amenorrhea, in the presence of
DE elevated levels of serum gonadotropins and low estradiol. POF17
DE transmission pattern is consistent with autosomal recessive
DE inheritance.
DR MIM; 619146; phenotype.
DR MedGen; CN293617.
DR MeSH; D016649.
KW KW-1066:Premature ovarian failure.
//
ID Premature ovarian failure 18.
AC DI-06020
AR POF18.
DE A form of premature ovarian failure, an ovarian disorder defined as
DE the cessation of ovarian function under the age of 40 years. It is
DE characterized by oligomenorrhea or amenorrhea, in the presence of
DE elevated levels of serum gonadotropins and low estradiol. POF18 is an
DE autosomal recessive form characterized by irregular menstrual cycles
DE and cessation of menstruation in the third decade of life. The uterus
DE is small, ovaries may be small or rudimentary, and do not show
DE follicular activity.
DR MIM; 619203; phenotype.
DR MedGen; CN295302.
DR MeSH; D016649.
KW KW-1066:Premature ovarian failure.
//
ID Premature ovarian failure 19.
AC DI-06064
AR POF19.
DE A form of premature ovarian failure, an ovarian disorder defined as
DE the cessation of ovarian function under the age of 40 years. It is
DE characterized by oligomenorrhea or amenorrhea, in the presence of
DE elevated levels of serum gonadotropins and low estradiol. POF19 is an
DE autosomal recessive form characterized by irregular menstrual cycles
DE and cessation of menstruation in the third decade of life.
DR MIM; 619245; phenotype.
DR MedGen; CN295867.
DR MeSH; D016649.
KW KW-1066:Premature ovarian failure.
//
ID Premature ovarian failure 2A.
AC DI-02191
AR POF2A.
DE An ovarian disorder defined as the cessation of ovarian function under
DE the age of 40 years. It is characterized by oligomenorrhea or
DE amenorrhea, in the presence of elevated levels of serum gonadotropins
DE and low estradiol.
DR MIM; 300511; phenotype.
DR MedGen; C1845293.
DR MeSH; D016649.
KW KW-1066:Premature ovarian failure.
//
ID Premature ovarian failure 2B.
AC DI-02192
AR POF2B.
DE An ovarian disorder defined as the cessation of ovarian function under
DE the age of 40 years. It is characterized by oligomenorrhea or
DE amenorrhea, in the presence of elevated levels of serum gonadotropins
DE and low estradiol.
DR MIM; 300604; phenotype.
DR MedGen; C1845105.
DR MeSH; D016649.
KW KW-1066:Premature ovarian failure.
//
ID Premature ovarian failure 3.
AC DI-02193
AR POF3.
DE An ovarian disorder defined as the cessation of ovarian function under
DE the age of 40 years. It is characterized by oligomenorrhea or
DE amenorrhea, in the presence of elevated levels of serum gonadotropins
DE and low estradiol.
DR MIM; 608996; phenotype.
DR MedGen; C1837008.
DR MeSH; D016649.
KW KW-1066:Premature ovarian failure.
//
ID Premature ovarian failure 4.
AC DI-02194
AR POF4.
DE An ovarian disorder defined as the cessation of ovarian function under
DE the age of 40 years. It is characterized by oligomenorrhea or
DE amenorrhea, in the presence of elevated levels of serum gonadotropins
DE and low estradiol.
DR MIM; 300510; phenotype.
DR MedGen; C1845295.
DR MeSH; D016649.
KW KW-1066:Premature ovarian failure.
//
ID Premature ovarian failure 5.
AC DI-02195
AR POF5.
DE An ovarian disorder defined as the cessation of ovarian function under
DE the age of 40 years. It is characterized by oligomenorrhea or
DE amenorrhea, in the presence of elevated levels of serum gonadotropins
DE and low estradiol.
DR MIM; 611548; phenotype.
DR MedGen; C1969060.
DR MeSH; D016649.
KW KW-1066:Premature ovarian failure.
//
ID Premature ovarian failure 6.
AC DI-02196
AR POF6.
DE An ovarian disorder defined as the cessation of ovarian function under
DE the age of 40 years. It is characterized by oligomenorrhea or
DE amenorrhea, in the presence of elevated levels of serum gonadotropins
DE and low estradiol.
DR MIM; 612310; phenotype.
DR MedGen; C2676742.
DR MeSH; D016649.
KW KW-1066:Premature ovarian failure.
//
ID Premature ovarian failure 7.
AC DI-02517
AR POF7.
DE An ovarian disorder defined as the cessation of ovarian function under
DE the age of 40 years. It is characterized by oligomenorrhea or
DE amenorrhea, in the presence of elevated levels of serum gonadotropins
DE and low estradiol.
DR MIM; 612964; phenotype.
DR MedGen; C2751825.
DR MeSH; D016649.
KW KW-1066:Premature ovarian failure.
//
ID Premature ovarian failure 8.
AC DI-04093
AR POF8.
DE An ovarian disorder defined as the cessation of ovarian function under
DE the age of 40 years. It is characterized by oligomenorrhea or
DE amenorrhea, in the presence of elevated levels of serum gonadotropins
DE and low estradiol.
DR MIM; 615723; phenotype.
DR MedGen; C3810367.
DR MedGen; CN185545.
DR MeSH; D016649.
KW KW-1066:Premature ovarian failure.
//
ID Premature ovarian failure 9.
AC DI-04070
AR POF9.
DE An ovarian disorder defined as the cessation of ovarian function under
DE the age of 40 years. It is characterized by oligomenorrhea or
DE amenorrhea, in the presence of elevated levels of serum gonadotropins
DE and low estradiol.
DR MIM; 615724; phenotype.
DR MedGen; C3810376.
DR MedGen; CN185546.
DR MeSH; D016649.
KW KW-1066:Premature ovarian failure.
//
ID Primary aldosteronism, seizures, and neurologic abnormalities.
AC DI-03908
AR PASNA.
DE A disorder characterized by hypertension, hypokalemia, and high
DE aldosterone levels with low plasma renin activity and an elevated
DE aldosterone/renin ratio. Other features include generalized seizures,
DE cerebral palsy, spasticity, intellectual disability, and developmental
DE delay.
DR MIM; 615474; phenotype.
DR MedGen; C3809609.
DR MedGen; CN180191.
DR MeSH; D006929.
DR MeSH; D012640.
KW KW-0887:Epilepsy.
//
ID Primary bile acid malabsorption.
AC DI-02198
AR PBAM.
DE An intestinal disorder associated with chronic watery diarrhea, excess
DE fecal bile acids, steatorrhea and interruption of the enterohepatic
DE circulation of bile acids.
DR MIM; 613291; phenotype.
DR MedGen; C2750087.
DR MeSH; D045602.
//
ID Primary erythermalgia.
AC DI-02201
AR PERYTHM.
DE Autosomal dominant disease characterized by recurrent episodes of
DE severe pain associated with redness and warmth in the feet or hands.
DR MIM; 133020; phenotype.
DR MedGen; C0014805.
DR MedGen; C3276706.
//
ID Primary failure of tooth eruption.
AC DI-02202
AR PFE.
DE Rare condition that has high penetrance and variable expressivity and
DE in which tooth retention occurs without evidence of any obvious
DE mechanical interference. Instead, malfunction of the eruptive
DE mechanism itself appears to cause nonankylosed permanent teeth to fail
DE to erupt, although the eruption pathway has been cleared by bone
DE resorption.
SY Dental non-eruption.
SY Familial posterior openbite malocclusion.
SY Non-syndromic primary failure of eruption.
SY Primary retention of teeth.
SY Unerupted second primary molar.
DR MIM; 125350; phenotype.
DR MedGen; C1852222.
DR MeSH; D014076.
//
ID Primary pigmented nodular adrenocortical disease 1.
AC DI-00940
AR PPNAD1.
DE A rare bilateral adrenal defect causing ACTH-independent Cushing
DE syndrome. Macroscopic appearance of the adrenals is characteristic
DE with small pigmented micronodules observed in the cortex. Clinical
DE manifestations of Cushing syndrome include facial and truncal obesity,
DE abdominal striae, muscular weakness, osteoporosis, arterial
DE hypertension, diabetes. PPNAD1 is most often diagnosed in patients
DE with Carney complex, a multiple neoplasia syndrome. However it can
DE also be observed in patients without other manifestations.
SY Adrenal Cushing syndrome due to PPNAD1.
SY Primary pigmented micronodular adrenocortical disease 1.
SY Primary pigmented nodular adrenocortical disease-1.
DR MIM; 610489; phenotype.
DR MedGen; C1864846.
DR MeSH; D003480.
KW KW-1062:Cushing syndrome.
//
ID Primary pigmented nodular adrenocortical disease 2.
AC DI-00941
AR PPNAD2.
DE A rare bilateral adrenal defect causing ACTH-independent Cushing
DE syndrome. Macroscopic appearance of the adrenals is characteristic
DE with small pigmented micronodules observed in the cortex. Adrenal
DE glands show overall normal size and weight, and multiple small yellow-
DE to-dark brown nodules surrounded by a cortex with a uniform
DE appearance. Microscopically, there are moderate diffuse cortical
DE hyperplasia with mostly nonpigmented nodules, multiple capsular
DE deficits and massive circumscribed and infiltrating extra-adrenal
DE cortical excrescences with micronodules. Clinical manifestations of
DE Cushing syndrome include facial and truncal obesity, abdominal striae,
DE muscular weakness, osteoporosis, arterial hypertension, diabetes.
SY Adrenal Cushing syndrome due to PPNAD2.
SY Primary pigmented micronodular adrenocortical disease 2.
SY Primary pigmented nodular adrenocortical disease-2.
DR MIM; 610475; phenotype.
DR MedGen; C1864851.
DR MeSH; D003480.
KW KW-1062:Cushing syndrome.
//
ID Primary pigmented nodular adrenocortical disease 3.
AC DI-03239
AR PPNAD3.
DE A rare bilateral adrenal defect causing ACTH-independent Cushing
DE syndrome. Macroscopic appearance of the adrenals is characteristic
DE with small pigmented micronodules observed in the cortex. Adrenal
DE glands show overall normal size and weight, and multiple small yellow-
DE to-dark brown nodules surrounded by a cortex with a uniform
DE appearance. Microscopically, there are moderate diffuse cortical
DE hyperplasia with mostly nonpigmented nodules, multiple capsular
DE deficits and massive circumscribed and infiltrating extra-adrenal
DE cortical excrescences with micronodules. Clinical manifestations of
DE Cushing syndrome include facial and truncal obesity, abdominal striae,
DE muscular weakness, osteoporosis, arterial hypertension, diabetes.
SY Adrenal Cushing syndrome due to PPNAD3.
DR MIM; 614190; phenotype.
DR MedGen; C3280094.
DR MeSH; D003480.
KW KW-1062:Cushing syndrome.
//
ID Primary pigmented nodular adrenocortical disease 4.
AC DI-04115
AR PPNAD4.
DE A rare bilateral adrenal defect causing ACTH-independent Cushing
DE syndrome. Macroscopic appearance of the adrenals is characteristic
DE with small pigmented micronodules observed in the cortex. Adrenal
DE glands show overall normal size and weight, and multiple small yellow-
DE to-dark brown nodules surrounded by a cortex with a uniform
DE appearance. Microscopically, there are moderate diffuse cortical
DE hyperplasia with mostly nonpigmented nodules, multiple capsular
DE deficits and massive circumscribed and infiltrating extra-adrenal
DE cortical excrescences with micronodules. Clinical manifestations of
DE Cushing syndrome include facial and truncal obesity, abdominal striae,
DE muscular weakness, osteoporosis, arterial hypertension, diabetes.
SY Adrenal Cushing syndrome due to PPNAD4.
SY Chromosome 19p13 duplication syndrome.
DR MIM; 615830; phenotype.
DR MedGen; CN188261.
DR MeSH; D003480.
KW KW-1062:Cushing syndrome.
//
ID Primary spontaneous pneumothorax.
AC DI-02208
AR PSP.
DE Condition in which air is present in the pleural space in the absence
DE of a precipitating event, such as trauma or lung disease. This results
DE in secondary collapse of the lung, either partially or completely, and
DE some degree of hypoxia. PSP is relatively common, with an incidence
DE between 7.4-18/100'000 for men and 1.2-6/100'000 for women and a dose-
DE dependent, increased risk among smokers. Most cases are sporadic,
DE typically occurring in tall, thin men aged 10-30 years and generally
DE while at rest. Familial PSP is rarer and usually is inherited as an
DE autosomal dominant condition with reduced penetrance, although X-
DE linked recessive and autosomal recessive inheritance have also been
DE suggested.
DR MIM; 173600; phenotype.
DR MedGen; C1868193.
//
ID Primrose syndrome.
AC DI-04154
AR PRIMS.
DE A disease characterized by macrocephaly, intellectual disability,
DE disturbed behavior, dysmorphic facial features, ectopic
DE calcifications, large calcified ear auricles, and progressive muscle
DE wasting.
SY Ossified ear cartilages with mental deficiency, muscle wasting, and bony changes.
DR MIM; 259050; phenotype.
DR MedGen; C0796121.
DR MeSH; D002114.
DR MeSH; D008607.
DR MeSH; D009133.
KW KW-0991:Intellectual disability.
//
ID Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1.
AC DI-00943
AR PEOA1.
DE A disorder characterized by progressive weakness of ocular muscles and
DE levator muscle of the upper eyelid. In a minority of cases, it is
DE associated with skeletal myopathy, which predominantly involves axial
DE or proximal muscles and which causes abnormal fatigability and even
DE permanent muscle weakness. Ragged-red fibers and atrophy are found on
DE muscle biopsy. A large proportion of chronic ophthalmoplegias are
DE associated with other symptoms, leading to a multisystemic pattern of
DE this disease. Additional symptoms are variable, and may include
DE cataracts, hearing loss, sensory axonal neuropathy, ataxia,
DE depression, hypogonadism, and parkinsonism.
SY Chronic progressive external ophthalmoplegia.
SY CPEO.
SY Graefe disease.
SY Mitochondrial ocular myopathy.
SY Ocular myopathy of von Graefe-Fuchs.
SY Progressive external ophthalmoplegia autosomal dominant.
DR MIM; 157640; phenotype.
DR MedGen; C1834846.
DR MeSH; D017246.
KW KW-0935:Progressive external ophthalmoplegia.
//
ID Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2.
AC DI-00944
AR PEOA2.
DE A disorder characterized by progressive weakness of ocular muscles and
DE levator muscle of the upper eyelid. In a minority of cases, it is
DE associated with skeletal myopathy, which predominantly involves axial
DE or proximal muscles and which causes abnormal fatigability and even
DE permanent muscle weakness. Ragged-red fibers and atrophy are found on
DE muscle biopsy. A large proportion of chronic ophthalmoplegias are
DE associated with other symptoms, leading to a multisystemic pattern of
DE this disease. Additional symptoms are variable, and may include
DE cataracts, hearing loss, sensory axonal neuropathy, ataxia,
DE depression, hypogonadism, and parkinsonism.
SY Chronic progressive external ophthalmoplegia.
SY CPEO.
SY Graefe disease.
SY Mitochondrial ocular myopathy.
SY Ocular myopathy of von Graefe-Fuchs.
SY Progressive external ophthalmoplegia autosomal dominant 2.
DR MIM; 609283; phenotype.
DR MedGen; C1836460.
DR MeSH; D017246.
KW KW-0935:Progressive external ophthalmoplegia.
//
ID Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3.
AC DI-00945
AR PEOA3.
DE A disorder characterized by progressive weakness of ocular muscles and
DE levator muscle of the upper eyelid. In a minority of cases, it is
DE associated with skeletal myopathy, which predominantly involves axial
DE or proximal muscles and which causes abnormal fatigability and even
DE permanent muscle weakness. Ragged-red fibers and atrophy are found on
DE muscle biopsy. A large proportion of chronic ophthalmoplegias are
DE associated with other symptoms, leading to a multisystemic pattern of
DE this disease. Additional symptoms are variable, and may include
DE cataracts, hearing loss, sensory axonal neuropathy, ataxia,
DE depression, hypogonadism, and parkinsonism.
SY Chronic progressive external ophthalmoplegia.
SY CPEO.
SY Graefe disease.
SY Mitochondrial ocular myopathy.
SY Ocular myopathy of von Graefe-Fuchs.
SY Progressive external ophthalmoplegia autosomal dominant 3.
DR MIM; 609286; phenotype.
DR MedGen; C1836439.
DR MeSH; D017246.
KW KW-0935:Progressive external ophthalmoplegia.
//
ID Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4.
AC DI-00946
AR PEOA4.
DE A disorder characterized by progressive weakness of ocular muscles and
DE levator muscle of the upper eyelid. In a minority of cases, it is
DE associated with skeletal myopathy, which predominantly involves axial
DE or proximal muscles and which causes abnormal fatigability and even
DE permanent muscle weakness. Ragged-red fibers and atrophy are found on
DE muscle biopsy. A large proportion of chronic ophthalmoplegias are
DE associated with other symptoms, leading to a multisystemic pattern of
DE this disease. Additional symptoms are variable, and may include
DE cataracts, hearing loss, sensory axonal neuropathy, ataxia,
DE depression, hypogonadism, and parkinsonism.
SY Chronic progressive external ophthalmoplegia.
SY CPEO.
SY Graefe disease.
SY Mitochondrial ocular myopathy.
SY Ocular myopathy of von Graefe-Fuchs.
SY Progressive external ophthalmoplegia autosomal dominant 4.
DR MIM; 610131; phenotype.
DR MedGen; C1864668.
DR MeSH; D017246.
KW KW-0935:Progressive external ophthalmoplegia.
//
ID Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5.
AC DI-02544
AR PEOA5.
DE A disorder characterized by progressive weakness of ocular muscles and
DE levator muscle of the upper eyelid. In a minority of cases, it is
DE associated with skeletal myopathy, which predominantly involves axial
DE or proximal muscles and which causes abnormal fatigability and even
DE permanent muscle weakness. Ragged-red fibers and atrophy are found on
DE muscle biopsy. A large proportion of chronic ophthalmoplegias are
DE associated with other symptoms, leading to a multisystemic pattern of
DE this disease. Additional symptoms are variable, and may include
DE cataracts, hearing loss, sensory axonal neuropathy, ataxia,
DE depression, hypogonadism, and parkinsonism.
SY Progressive external ophthalmoplegia autosomal dominant 5.
DR MIM; 613077; phenotype.
DR MedGen; C2751319.
DR MeSH; D017246.
KW KW-0935:Progressive external ophthalmoplegia.
//
ID Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6.
AC DI-03758
AR PEOA6.
DE A disorder characterized by muscle weakness, mainly affecting the
DE lower limbs, external ophthalmoplegia, exercise intolerance, and
DE mitochondrial DNA deletions on muscle biopsy. Symptoms may appear in
DE childhood or adulthood and show slow progression.
SY Progressive external ophthalmoplegia autosomal dominant 6.
DR MIM; 615156; phenotype.
DR MedGen; C3554599.
DR MedGen; CN169523.
DR MeSH; D017246.
KW KW-0935:Progressive external ophthalmoplegia.
//
ID Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2.
AC DI-04488
AR PEOB2.
DE A form of progressive external ophthalmoplegia, a mitochondrial
DE myopathy characterized by progressive paralysis of the levator
DE palpebrae, orbicularis oculi, and extraocular muscles. PEOB2 patients
DE manifest exercise intolerance, muscle weakness, and signs and symptoms
DE of spinocerebellar ataxia, such as impaired gait and dysarthria. Some
DE patients may have respiratory insufficiency.
DR MIM; 616479; phenotype.
DR MedGen; CN231730.
DR MeSH; D017246.
KW KW-0935:Progressive external ophthalmoplegia.
//
ID Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3.
AC DI-04801
AR PEOB3.
DE A form of progressive external ophthalmoplegia, a mitochondrial
DE myopathy characterized by progressive paralysis of the levator
DE palpebrae, orbicularis oculi, and extraocular muscles. PEOB3 patients
DE manifest adult-onset progressive external ophthalmoplegia and
DE progressive proximal muscle weakness associated with muscle atrophy.
SY Progressive external ophthalmoplegia, autosomal recessive 3.
DR MIM; 617069; phenotype.
DR MedGen; CN237801.
DR MeSH; D017246.
KW KW-0935:Progressive external ophthalmoplegia.
//
ID Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4.
AC DI-04802
AR PEOB4.
DE A form of progressive external ophthalmoplegia, a mitochondrial
DE myopathy characterized by progressive paralysis of the levator
DE palpebrae, orbicularis oculi, and extraocular muscles. PEOB4 patients
DE manifest clinically variable features including mitochondrial myopathy
DE with or without progressive external ophthalmoplegia, recurrent
DE rhabdomyolysis, and adult-onset lower motor neuron syndrome with mild
DE cognitive impairment.
SY Progressive external ophthalmoplegia, autosomal recessive 4.
DR MIM; 617070; phenotype.
DR MedGen; CN237802.
DR MeSH; D017246.
KW KW-0935:Progressive external ophthalmoplegia.
//
ID Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5.
AC DI-05301
AR PEOB5.
DE A form of progressive external ophthalmoplegia, a mitochondrial
DE myopathy characterized by progressive paralysis of the levator
DE palpebrae, orbicularis oculi, and extraocular muscles. PEOB5 features
DE include slowly progressive ptosis, intermittent double vision, cardiac
DE arrhythmias, exercise intolerance, proximal limb and neck muscle
DE weakness, and cerebellar ataxia. Patients skeletal muscle biopsy show
DE numerous COX-deficient ragged-red fibers, increased mtDNA deletions,
DE and extensive variable mtDNA rearrangements.
SY Progressive external ophthalmoplegia, autosomal recessive 5.
DR MIM; 618098; phenotype.
DR MedGen; CN253818.
DR MeSH; D017246.
KW KW-0935:Progressive external ophthalmoplegia.
//
ID Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1.
AC DI-00947
AR PEOB1.
DE A severe form of progressive external ophthalmoplegia, a disorder
DE characterized by progressive weakness of ocular muscles and levator
DE muscle of the upper eyelid. It is clinically more heterogeneous than
DE the autosomal dominant forms.
SY Chronic progressive external ophthalmoplegia.
SY CPEO.
SY Graefe disease.
SY Mitochondrial ocular myopathy.
SY Ocular myopathy of von Graefe-Fuchs.
SY Progressive external ophthalmoplegia autosomal recessive.
DR MIM; 258450; phenotype.
DR MedGen; C1850303.
DR MeSH; D017246.
KW KW-0935:Progressive external ophthalmoplegia.
//
ID Progressive familial heart block 1A.
AC DI-00948
AR PFHB1A.
DE A cardiac bundle branch disorder characterized by progressive
DE alteration of cardiac conduction through the His-Purkinje system, with
DE a pattern of a right bundle-branch block and/or left anterior
DE hemiblock occurring individually or together. It leads to complete
DE atrio-ventricular block causing syncope and sudden death.
SY Bundle branch block.
SY Cardiac conduction defect.
SY HBBD.
SY Hereditary bundle branch system defect.
SY Lenegre-Lev disease.
SY PCCD.
SY PFHBIA.
SY Progressive cardiac conduction defect.
SY Progressive familial heart block type I.
SY Progressive familial heart block type IA.
DR MIM; 113900; phenotype.
DR MedGen; C1861983.
DR MedGen; C1861984.
DR MedGen; C1879286.
DR MedGen; C2931045.
DR MeSH; D002037.
//
ID Progressive familial heart block 1B.
AC DI-02825
AR PFHB1B.
DE A cardiac bundle branch disorder characterized by progressive
DE alteration of cardiac conduction through the His-Purkinje system, with
DE a pattern of a right bundle-branch block and/or left anterior
DE hemiblock occurring individually or together. It leads to complete
DE atrio-ventricular block causing syncope and sudden death.
SY Cardiac conduction block.
SY PFHBIB.
SY Progressive familial heart block type IB.
SY Right-bundle branch block.
DR MIM; 604559; phenotype.
DR MedGen; C1970298.
DR MeSH; D002037.
//
ID Progressive osseous heteroplasia.
AC DI-02212
AR POH.
DE Rare autosomal dominant disorder characterized by extensive dermal
DE ossification during childhood, followed by disabling and widespread
DE heterotopic ossification of skeletal muscle and deep connective
DE tissue.
DR MIM; 166350; phenotype.
DR MedGen; C0334041.
DR MedGen; CN034473.
//
ID Progressive pseudorheumatoid dysplasia.
AC DI-02213
AR PPRD.
DE An autosomal recessive disorder characterized by stiffness and
DE swelling of joints, motor weakness and joint contractures. Signs and
DE symptoms of the disease develop typically between three and eight
DE years of age. This progressive disease is a primary disorder of
DE articular cartilage with continued cartilage loss and destructive bone
DE changes with aging.
SY Arthropathy, progressive pseudorheumatoid, of childhood.
SY PPAC.
SY PPD.
SY Progressive pseudorheumatoid arthropathy of childhood.
SY SEDT-PA.
SY Spondyloepiphyseal dysplasia tarda with progressive arthropathy;.
DR MIM; 208230; phenotype.
DR MedGen; C0432215.
DR MeSH; D007592.
//
ID Progressive supranuclear palsy 1.
AC DI-02215
AR PSNP1.
DE Characterized by akinetic-rigid syndrome, supranuclear gaze palsy,
DE pyramidal tract dysfunction, pseudobulbar signs and cognitive
DE capacities deterioration. Neurofibrillary tangles and gliosis but no
DE amyloid plaques are found in diseased brains. Most cases appear to be
DE sporadic, with a significant association with a common haplotype
DE including the MAPT gene and the flanking regions. Familial cases show
DE an autosomal dominant pattern of transmission with incomplete
DE penetrance; genetic analysis of a few cases showed the occurrence of
DE tau mutations, including a deletion of Asn-613.
SY PSP.
SY Steele-Richardson-Olszewski syndrome.
DR MIM; 601104; phenotype.
DR MedGen; C0038868.
//
ID Progressive symmetric erythrokeratodermia.
AC DI-02216
AR PSEK.
DE Erythrokeratodermas are a group of disorders characterized by
DE widespread erythematous plaques, either stationary or migratory,
DE associated with features that include palmoplantar keratoderma. PSEK
DE is characterized by erythematous and hyperkeratotic plaques.
DR MIM; 133200; phenotype.
//
ID Prolactin-secreting pituitary adenoma.
AC DI-02217
AR PSPA.
DE Most common type of hormonally active pituitary adenoma.
SY Prolactinoma.
DR MIM; 600634; phenotype.
DR MedGen; C0033375.
//
ID Prolidase deficiency.
AC DI-02218
AR PD.
DE A multisystem disorder associated with massive iminodipeptiduria and
DE lack of or reduced prolidase activity in erythrocytes, leukocytes, or
DE cultured fibroblasts. Clinical features include skin ulcers,
DE developmental delay, recurrent infections, and a characteristic
DE facies.
DR MIM; 170100; phenotype.
DR MedGen; C0268532.
DR MeSH; D056732.
//
ID Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome.
AC DI-02824
AR PVHH.
DE A rare prenatally lethal disorder characterized by hydranencephaly, a
DE distinctive glomerular vasculopathy in the central nervous system and
DE retina, and diffuse ischemic lesions of the brain stem, basal ganglia,
DE and spinal cord with calcifications. Hydranencephaly is a condition
DE where the greater portions of the cerebral hemispheres and corpus
DE striatum are replaced by cerebrospinal fluid and glial tissue.
SY Cerebral proliferative glomeruloid vasculopathy.
SY Encephaloclastic proliferative vasculopathy.
SY EPV.
SY Fowler syndrome.
SY Hydranencephaly Fowler type.
SY Hydrocephaly/hydranencephaly due to cerebral vasculopathy.
SY PGV.
DR MIM; 225790; phenotype.
DR MedGen; C1856972.
DR MeSH; D006832.
//
ID Prolonged electroretinal response suppression.
AC DI-02219
AR PERRS.
DE Characterized by difficulty adjusting to sudden changes in luminance
DE levels mediated by cones.
SY Bradyopsia.
DR MIM; 608415; phenotype.
DR MedGen; C1842073.
//
ID Properdin deficiency.
AC DI-02220
AR PFD.
DE Results in higher susceptibility to bacterial infections; especially
DE to meningococcal infections. Three phenotypes have been reported:
DE complete deficiency (type I), incomplete deficiency (type II), and
DE dysfunction of properdin (type III).
DR MIM; 312060; phenotype.
DR MedGen; C1839454.
DR MedGen; C1839455.
DR MedGen; C1839456.
//
ID Propionic acidemia type I.
AC DI-02221
AR PA-1.
DE Life-threatening disease characterized by episodic vomiting, lethargy
DE and ketosis, neutropenia, periodic thrombocytopenia,
DE hypogammaglobulinemia, developmental retardation, and intolerance to
DE protein.
DR MIM; 606054; phenotype.
DR MedGen; C0268579.
DR MedGen; C0311297.
//
ID Propionic acidemia type II.
AC DI-02222
AR PA-2.
DE Life-threatening disease characterized by episodic vomiting, lethargy
DE and ketosis, neutropenia, periodic thrombocytopenia,
DE hypogammaglobulinemia, developmental retardation, and intolerance to
DE protein.
DR MIM; 606054; phenotype.
DR MedGen; C0268579.
DR MedGen; C0311298.
//
ID Proprotein convertase 1 deficiency.
AC DI-02223
AR PC1 deficiency.
DE Characterized by obesity, hypogonadism, hypoadrenalism, reactive
DE hypoglycemia as well as marked small-intestinal absorptive dysfunction
DE It is due to impaired processing of prohormones.
DR MIM; 600955; phenotype.
DR MedGen; C1833053.
//
ID Prostate cancer.
AC DI-02663
AR PC.
DE A malignancy originating in tissues of the prostate. Most prostate
DE cancers are adenocarcinomas that develop in the acini of the prostatic
DE ducts. Other rare histopathologic types of prostate cancer that occur
DE in approximately 5% of patients include small cell carcinoma, mucinous
DE carcinoma, prostatic ductal carcinoma, transitional cell carcinoma,
DE squamous cell carcinoma, basal cell carcinoma, adenoid cystic
DE carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine
DE carcinoma.
SY PRCA.
DR MIM; 176807; phenotype.
DR MedGen; C0376358.
DR MeSH; D011471.
//
ID Prostate cancer, hereditary, 1.
AC DI-01736
AR HPC1.
DE A condition associated with familial predisposition to cancer of the
DE prostate. Most prostate cancers are adenocarcinomas that develop in
DE the acini of the prostatic ducts. Other rare histopathologic types of
DE prostate cancer that occur in approximately 5% of patients include
DE small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma,
DE transitional cell carcinoma, squamous cell carcinoma, basal cell
DE carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell
DE carcinoma and neuroendocrine carcinoma.
SY Familial prostate cancer 1.
SY PRCA1.
DR MIM; 601518; phenotype.
DR MedGen; C2931456.
DR MeSH; D011471.
//
ID Prostate cancer, hereditary, 11.
AC DI-02662
AR HPC11.
DE A condition associated with familial predisposition to cancer of the
DE prostate. Most prostate cancers are adenocarcinomas that develop in
DE the acini of the prostatic ducts. Other rare histopathologic types of
DE prostate cancer that occur in approximately 5% of patients include
DE small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma,
DE transitional cell carcinoma, squamous cell carcinoma, basal cell
DE carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell
DE carcinoma and neuroendocrine carcinoma.
SY Familial prostate cancer 11.
DR MIM; 611955; phenotype.
DR MedGen; C2677773.
DR MeSH; D011471.
//
ID Prostate cancer, hereditary, 12.
AC DI-02661
AR HPC12.
DE A condition associated with familial predisposition to cancer of the
DE prostate. Most prostate cancers are adenocarcinomas that develop in
DE the acini of the prostatic ducts. Other rare histopathologic types of
DE prostate cancer that occur in approximately 5% of patients include
DE small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma,
DE transitional cell carcinoma, squamous cell carcinoma, basal cell
DE carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell
DE carcinoma and neuroendocrine carcinoma.
SY Familial prostate cancer 12.
DR MIM; 611868; phenotype.
DR MedGen; C2678479.
DR MeSH; D011471.
//
ID Prostate cancer, hereditary, 13.
AC DI-02660
AR HPC13.
DE A condition associated with familial predisposition to cancer of the
DE prostate. Most prostate cancers are adenocarcinomas that develop in
DE the acini of the prostatic ducts. Other rare histopathologic types of
DE prostate cancer that occur in approximately 5% of patients include
DE small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma,
DE transitional cell carcinoma, squamous cell carcinoma, basal cell
DE carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell
DE carcinoma and neuroendocrine carcinoma.
SY Familial prostate cancer 13.
DR MIM; 611928; phenotype.
DR MedGen; C2677821.
DR MeSH; D011471.
//
ID Prostate cancer, hereditary, 2.
AC DI-03498
AR HPC2.
DE A condition associated with familial predisposition to cancer of the
DE prostate. Most prostate cancers are adenocarcinomas that develop in
DE the acini of the prostatic ducts. Other rare histopathologic types of
DE prostate cancer that occur in approximately 5% of patients include
DE small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma,
DE transitional cell carcinoma, squamous cell carcinoma, basal cell
DE carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell
DE carcinoma and neuroendocrine carcinoma.
SY Familial prostate cancer 2.
DR MIM; 614731; phenotype.
DR MedGen; C3539120.
DR MedGen; CN130472.
DR MeSH; D011471.
//
ID Proteasome-associated autoinflammatory syndrome 1.
AC DI-03009
AR PRAAS1.
DE An autosomal recessive autoinflammatory disorder characterized by
DE early childhood onset of recurrent fever, joint stiffness and severe
DE contractures of the hands and feet, and erythematous skin lesions with
DE subsequent development of lipodystrophy and laboratory evidence of
DE immune dysregulation. Accompanying features may include muscle
DE weakness and atrophy, hepatosplenomegaly, and microcytic anemia.
SY Autoinflammation, lipodystrophy, and dermatosis syndrome.
SY CANDLE.
SY Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome.
SY JMP syndrome.
SY Joint contractures muscular atrophy microcytic anemia and panniculitis-induced lipodystrophy.
SY Nakajo-Nishimura syndrome.
SY Nakajo syndrome.
SY NKJO.
SY NNS.
SY Nodular erythema with digital changes.
SY Secondary hypertrophic osteoperiostosis with pernio.
DR MIM; 256040; phenotype.
DR MedGen; C1850568.
DR MedGen; C3278560.
DR MeSH; D007249.
DR MeSH; D008060.
//
ID Proteasome-associated autoinflammatory syndrome 2.
AC DI-05287
AR PRAAS2.
DE An autosomal dominant autoinflammatory disorder characterized by onset
DE in early infancy and severe inflammatory neutrophilic dermatitis,
DE autoimmunity, and variable immunodeficiency.
DR MIM; 618048; phenotype.
DR MedGen; CN252342.
DR MeSH; D056660.
//
ID Proteasome-associated autoinflammatory syndrome 3.
AC DI-05286
AR PRAAS3.
DE An autoinflammatory disorder characterized by onset in early infancy
DE and recurrent fever, nodular dermatitis, myositis, panniculitis-
DE induced lipodystrophy, lymphadenopathy, and immune dysregulation.
DE Variable accompanying features may include joint contractures,
DE hepatosplenomegaly, anemia, thrombocytopenia, recurrent infections,
DE autoantibodies, and hypergammaglobulinemia. Some patients may have
DE intracranial calcifications. PRAAS3 inheritance is autosomal recessive
DE or digenic.
SY Proteasome-associated autoinflammatory syndrome 3, digenic.
DR MIM; 617591; phenotype.
DR MedGen; CN252341.
DR MeSH; D056660.
//
ID Proteasome-associated autoinflammatory syndrome 4.
AC DI-06047
AR PRAAS4.
DE An autosomal recessive, autoinflammatory disorder characterized by
DE panniculitis and erythematous skin lesions apparent in early infancy.
DE Additional features include hepatosplenomegaly, lymphadenopathy,
DE autoimmune hemolytic anemia, fever, generalized lipodystrophy,
DE myositis, joint contractures, and mild motor and speech delay.
DR MIM; 619183; phenotype.
DR MedGen; CN295286.
DR MeSH; D056660.
//
ID Proteasome-associated autoinflammatory syndrome 5.
AC DI-06029
AR PRAAS5.
DE An autosomal recessive, autoinflammatory disorder characterized by
DE recurrent, polymorphic disseminated cutaneous rash with annular
DE lesions, non-specific lymphocytic infiltration in the skin, fever,
DE failure to thrive, and persistent hepatosplenomegaly. Disease onset is
DE in early infancy.
DR MIM; 619175; phenotype.
DR MedGen; CN295285.
DR MeSH; D056660.
//
ID Proteinuria, chronic benign.
AC DI-05842
AR PROCHOB.
DE An autosomal recessive condition characterized by isolated, non-
DE progressive proteinuria in absence of renal disease and hypertension.
DE Onset of proteinuria is in the first decade of life.
DR MIM; 618884; phenotype.
DR MedGen; CN280936.
DR MeSH; D011507.
//
ID Proteus syndrome.
AC DI-03216
AR PROTEUSS.
DE A highly variable, severe disorder of asymmetric and disproportionate
DE overgrowth of body parts, connective tissue nevi, epidermal nevi,
DE dysregulated adipose tissue, and vascular malformations. Many features
DE of Proteus syndrome overlap with other overgrowth syndromes.
SY Partial gigantism of hands and feet nevi hemihypertrophy and macrocephaly.
DR MIM; 176920; phenotype.
DR MedGen; C0085261.
DR MedGen; C1867610.
DR MeSH; D016715.
//
ID Protoporphyria, erythropoietic, 1.
AC DI-00484
AR EPP1.
DE An autosomal recessive form of porphyria with onset usually before age
DE 10 years. Porphyrias are inherited defects in the biosynthesis of
DE heme, resulting in the accumulation and increased excretion of
DE porphyrins or porphyrin precursors. They are classified as
DE erythropoietic or hepatic, depending on whether the enzyme deficiency
DE occurs in red blood cells or in the liver. Erythropoietic
DE protoporphyria is marked by excessive protoporphyrin in erythrocytes,
DE plasma, liver and feces, and by widely varying photosensitive skin
DE changes ranging from a burning or pruritic sensation to erythema,
DE edema and wheals.
SY EPP.
SY Erythrohepatic protoporphyria.
SY Erythropoietic protoporphyria.
SY Ferrochelatase deficiency.
SY Heme synthetase deficiency.
DR MIM; 177000; phenotype.
DR MedGen; C0162568.
DR MedGen; C0349426.
DR MeSH; D046351.
//
ID Protoporphyria, erythropoietic, 2.
AC DI-05274
AR EPP2.
DE An autosomal dominant form of porphyria with onset in infancy.
DE Porphyrias are inherited defects in the biosynthesis of heme,
DE resulting in the accumulation and increased excretion of porphyrins or
DE porphyrin precursors. They are classified as erythropoietic or
DE hepatic, depending on whether the enzyme deficiency occurs in red
DE blood cells or in the liver. Erythropoietic protoporphyria is marked
DE by excessive protoporphyrin in erythrocytes, plasma, liver and feces,
DE and by widely varying photosensitive skin changes ranging from a
DE burning or pruritic sensation to erythema, edema and wheals.
DR MIM; 618015; phenotype.
DR MedGen; CN248523.
DR MeSH; D046351.
//
ID Prune belly syndrome.
AC DI-03312
AR PBS.
DE A syndrome characterized by thin abdominal musculature with overlying
DE lax skin, cryptorchism, megacystis with disorganized detrusor muscle,
DE and urinary tract abnormalities.
SY Abdominal muscle deficiency syndrome.
SY Absence of abdominal muscles with urinary tract abnormality and cryptorchidism.
SY Eagle-Barrett syndrome.
SY EGBRS.
DR MIM; 100100; phenotype.
DR MedGen; C0033770.
DR MeSH; D011535.
//
ID Pseudo-TORCH syndrome 1.
AC DI-02925
AR PTORCH1.
DE An autosomal recessive neurologic disorder with characteristic
DE clinical and neuroradiologic features that mimic intrauterine TORCH
DE infection in the absence of evidence of infection. Affected
DE individuals have congenital microcephaly, intracranial calcifications,
DE and severe developmental delay.
SY Band-like calcification with simplified gyration and polymicrogyria.
SY Baraitser Brett Piesowicz syndrome.
SY BLCPMG.
SY Pseudo-TORCH syndrome.
DR MIM; 251290; phenotype.
DR MedGen; C3489725.
DR MeSH; D009422.
//
ID Pseudo-TORCH syndrome 2.
AC DI-04973
AR PTORCH2.
DE An autosomal recessive multisystem disorder characterized by antenatal
DE onset of intracranial hemorrhage, calcification, brain malformations,
DE liver dysfunction, and often thrombocytopenia. Affected individuals
DE tend to have respiratory insufficiency and seizures, and die in
DE infancy. The phenotype resembles the sequelae of intrauterine
DE infection, but there is no evidence of an infectious agent.
DR MIM; 617397; phenotype.
DR MedGen; CN241835.
DR MeSH; D009422.
//
ID Pseudo-TORCH syndrome 3.
AC DI-05844
AR PTORCH3.
DE An autosomal recessive disorder characterized by developmental delay
DE with acute episodes of fever and multisystemic organ involvement,
DE including coagulopathy, elevated liver enzymes, and proteinuria, often
DE associated with thrombotic microangiopathy. Brain imaging shows
DE progressive intracranial calcifications, white matter abnormalities,
DE and sometimes cerebral or cerebellar atrophy. Disease onset is in the
DE neonatal period, and death in early childhood is common.
DR MIM; 618886; phenotype.
DR MedGen; CN280969.
DR MeSH; D009422.
//
ID Pseudo-von Willebrand disease.
AC DI-02415
AR VWDP.
DE A bleeding disorder characterized by abnormally enhanced binding of
DE von Willebrand factor by the platelet glycoprotein Ib (GP Ib) receptor
DE complex. Hemostatic function is impaired due to the removal of VWF
DE multimers from the circulation.
SY BDPLT3.
SY Bleeding disorder platelet-type 3.
SY Pseudo-vWD.
SY von Willebrand disease platelet-type.
DR MIM; 177820; phenotype.
DR MedGen; C1280798.
DR MeSH; D014842.
//
ID Pseudoachondroplasia.
AC DI-02227
AR PSACH.
DE A skeletal dysplasia usually manifesting in the second year of life
DE and characterized by moderate to severe disproportionate short
DE stature, deformity of the lower limbs, brachydactyly, ligamentous
DE laxity, and degenerative joint disease.
SY Pseudoachondroplastic dysplasia.
SY Spondyloepiphyseal dysplasia pseudoachondroplastic.
DR MIM; 177170; phenotype.
DR MedGen; C0410538.
DR MeSH; D010009.
//
ID Pseudofolliculitis barbae.
AC DI-05647
AR PFB.
DE A common hair disorder characterized by a pustular foreign body
DE inflammatory reaction that is induced by ingrown hairs of the facial
DE and submental (barbea) regions after regular shaving. It primarily
DE affects curly haired males. The etiology of PFB is multifactorial.
SY Ingrown hairs.
SY Pili incarnati.
DR MIM; 612318; phenotype.
DR MedGen; C0549150.
DR MeSH; D006201.
//
ID Pseudohyperkalemia, familial, 2, due to red cell leak.
AC DI-04131
AR PSHK2.
DE A dominantly inherited condition characterized by increased serum
DE potassium levels, measured in whole-blood specimens stored at or below
DE room temperature. This condition is not accompanied by clinical
DE symptoms or biological signs except for borderline abnormalities of
DE red cell shape.
SY Cryohydrocytosis, mild.
SY Pseudohyperkalemia Cardiff.
SY Pseudohyperkalemia Chiswick.
SY Pseudohyperkalemia East London.
SY Pseudohyperkalemia Falkirk.
SY Pseudohyperkalemia Lille.
DR MIM; 609153; phenotype.
DR MedGen; C1836705.
DR MeSH; D006947.
//
ID Pseudohypoaldosteronism 1, autosomal dominant.
AC DI-01224
AR PHA1A.
DE A salt wasting disease resulting from target organ unresponsiveness to
DE mineralocorticoids. PHA1A is a mild form characterized by target organ
DE defects confined to kidney. Patients may present with neonatal renal
DE salt wasting with hyperkalaemic acidosis despite high aldosterone
DE levels. These patients improve with age and usually become
DE asymptomatic without treatment.
SY PHA type I, autosomal dominant.
SY Pseudohypoaldosteronism type I, autosomal dominant.
DR MIM; 177735; phenotype.
DR MedGen; C1449842.
DR MeSH; D011546.
//
ID Pseudohypoaldosteronism 1, autosomal recessive.
AC DI-01255
AR PHA1B.
DE A rare salt wasting disease resulting from target organ
DE unresponsiveness to mineralocorticoids. PHA1B is a severe form
DE involving multiple organ systems, and characterized by an often
DE fulminant presentation in the neonatal period with dehydration,
DE hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and
DE weight loss.
SY Multisystem pseudohypoaldosteronism.
SY PHA type I, autosomal recessive.
SY Pseudohypoaldosteronism type I, autosomal recessive.
DR MIM; 264350; phenotype.
DR MedGen; C1449843.
DR MeSH; D011546.
//
ID Pseudohypoaldosteronism 2B.
AC DI-03368
AR PHA2B.
DE An autosomal dominant disorder characterized by hypertension,
DE hyperkalemia, hyperchloremia, mild hyperchloremic metabolic acidosis,
DE and correction of physiologic abnormalities by thiazide diuretics.
DR MIM; 614491; phenotype.
DR MedGen; C1840390.
DR MeSH; D011546.
//
ID Pseudohypoaldosteronism 2C.
AC DI-02228
AR PHA2C.
DE An autosomal dominant disorder characterized by severe hypertension,
DE hyperkalemia, hyperchloremia, mild hyperchloremic metabolic acidosis
DE in some cases, and correction of physiologic abnormalities by thiazide
DE diuretics.
DR MIM; 614492; phenotype.
DR MedGen; C1840391.
DR MeSH; D011546.
//
ID Pseudohypoaldosteronism 2D.
AC DI-03366
AR PHA2D.
DE A disorder characterized by severe hypertension, hyperkalemia,
DE hyperchloremia, hyperchloremic metabolic acidosis, and correction of
DE physiologic abnormalities by thiazide diuretics. PHA2D inheritance is
DE autosomal dominant or recessive.
DR MIM; 614495; phenotype.
DR MedGen; C3469605.
DR MeSH; D011546.
//
ID Pseudohypoaldosteronism 2E.
AC DI-03367
AR PHA2E.
DE An autosomal dominant disorder characterized by severe hypertension,
DE hyperkalemia, hyperchloremia, hyperchloremic metabolic acidosis, and
DE correction of physiologic abnormalities by thiazide diuretics.
DR MIM; 614496; phenotype.
DR MedGen; C3469606.
DR MeSH; D011546.
//
ID Pseudohypoparathyroidism 1A.
AC DI-02229
AR PHP1A.
DE A disorder characterized by end-organ resistance to parathyroid
DE hormone, hypocalcemia and hyperphosphatemia. It is commonly associated
DE with Albright hereditary osteodystrophy whose features are short
DE stature, obesity, round facies, short metacarpals and ectopic
DE calcification.
SY Albright hereditary osteodystrophy with multiple hormone resistance.
DR MIM; 103580; phenotype.
DR MedGen; C0033806.
DR MedGen; C3494506.
DR MeSH; D011547.
//
ID Pseudohypoparathyroidism 1B.
AC DI-02817
AR PHP1B.
DE A disorder characterized by end-organ resistance to parathyroid
DE hormone, hypocalcemia and hyperphosphatemia. Patients affected with
DE PHP1B lack developmental defects characteristic of Albright hereditary
DE osteodystrophy, and typically show no other endocrine abnormalities
DE besides resistance to PTH.
DR MIM; 603233; phenotype.
DR MedGen; C1864100.
DR MeSH; D011547.
//
ID Pseudohypoparathyroidism 1C.
AC DI-02818
AR PHP1C.
DE A disorder characterized by end-organ resistance to parathyroid
DE hormone, hypocalcemia and hyperphosphatemia. It is commonly associated
DE with Albright hereditary osteodystrophy whose features are short
DE stature, obesity, round facies, short metacarpals and ectopic
DE calcification.
DR MIM; 612462; phenotype.
DR MedGen; C2675910.
DR MedGen; C2932716.
DR MeSH; D011547.
//
ID Pseudovaginal perineoscrotal hypospadias.
AC DI-02230
AR PPSH.
DE A form of male pseudohermaphroditism in which 46,XY males show
DE ambiguous genitalia at birth, including perineal hypospadias and a
DE blind perineal pouch, and develop masculinization at puberty. The name
DE of the disorder stems from the finding of a blind-ending perineal
DE opening resembling a vagina and a severely hypospadiac penis with the
DE urethra opening onto the perineum.
SY 5-ARD deficiency.
SY Familial incomplete male pseudohermaphroditism type 2.
SY Male pseudohermaphroditism due to 5-alpha-reductase deficiency.
DR MIM; 264600; phenotype.
DR MedGen; C0268297.
DR MeSH; D058490.
KW KW-0657:Pseudohermaphroditism.
//
ID Pseudoxanthoma elasticum.
AC DI-00959
AR PXE.
DE A multisystem disorder characterized by accumulation of mineralized
DE and fragmented elastic fibers in the skin, vascular walls, and Burch
DE membrane in the eye. Clinically, patients exhibit characteristic
DE lesions of the posterior segment of the eye including peau d'orange,
DE angioid streaks, and choroidal neovascularizations, of the skin
DE including soft, ivory colored papules in a reticular pattern that
DE predominantly affect the neck and large flexor surfaces, and of the
DE cardiovascular system with peripheral and coronary arterial occlusive
DE disease as well as gastrointestinal bleedings.
SY Gronblad-Strandberg syndrome.
SY Gronblad-Strandberg-Touraine syndrome.
DR MIM; 264800; phenotype.
DR MedGen; C0033847.
DR MedGen; C0376359.
DR MedGen; C3279392.
DR MedGen; C3279393.
DR MeSH; D011561.
//
ID Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency.
AC DI-02234
AR PXEL-MCFD.
DE Characterized by hyperlaxity of the skin involving the entire body.
DE Important phenotypic differences with classical PXE include much more
DE severe skin laxity with spreading toward the trunk and limbs with
DE thick, leathery skin folds rather than confinement to flexural areas,
DE and no decrease in visual acuity. Moreover, detailed electron
DE microscopic analyses revealed that alterations of elastic fibers as
DE well as their mineralization are slightly different from those in
DE classic PXE.
SY PXE-like disorder with multiple coagulation factor deficiency.
DR MIM; 610842; phenotype.
DR MedGen; C1835813.
//
ID Psoriasis 1.
AC DI-02231
AR PSORS1.
DE A common, chronic inflammatory disease of the skin with multifactorial
DE etiology. It is characterized by red, scaly plaques usually found on
DE the scalp, elbows and knees. These lesions are caused by abnormal
DE keratinocyte proliferation and infiltration of inflammatory cells into
DE the dermis and epidermis.
SY Psoriasis.
SY Psoriasis vulgaris.
SY PV.
DR MIM; 177900; phenotype.
DR MedGen; C1867449.
DR MeSH; D011565.
//
ID Psoriasis 11.
AC DI-02669
AR PSORS11.
DE A common, chronic inflammatory disease of the skin with multifactorial
DE etiology. It is characterized by red, scaly plaques usually found on
DE the scalp, elbows and knees. These lesions are caused by abnormal
DE keratinocyte proliferation and infiltration of inflammatory cells into
DE the dermis and epidermis.
SY Psoriasis.
SY Psoriasis vulgaris.
SY PV.
DR MIM; 612599; phenotype.
DR MedGen; C2675475.
DR MeSH; D011565.
//
ID Psoriasis 13.
AC DI-03151
AR PSORS13.
DE A common, chronic inflammatory disease of the skin with multifactorial
DE etiology. It is characterized by red, scaly plaques usually found on
DE the scalp, elbows and knees. These lesions are caused by abnormal
DE keratinocyte proliferation and infiltration of inflammatory cells into
DE the dermis and epidermis.
SY Psoriasis.
SY Psoriasis vulgaris.
SY PV.
DR MIM; 614070; phenotype.
DR MedGen; C3279754.
DR MeSH; D011565.
//
ID Psoriasis 14, pustular.
AC DI-03262
AR PSORS14.
DE A life-threatening disease defined by repeated flares of sudden onset
DE consisting of diffuse erythematous skin eruption characterized by
DE rapid coverage with pustules, high-grade fever, asthenia, marked
DE leukocytosis, and elevated serum levels of C-reactive protein.
SY Acrodermatitis continua of Hallopeau.
SY DITRA.
SY Generalized pustular psoriasis.
SY GPP.
SY Interleukin 36 receptor antagonist deficiency.
SY Palmoplantar pustulosis.
SY PSORP.
DR MIM; 614204; phenotype.
DR MedGen; C0343055.
DR MedGen; CN078797.
DR MeSH; D011565.
//
ID Psoriasis 15, pustular.
AC DI-04277
AR PSORS15.
DE A form of pustular psoriasis, a life-threatening disease defined by
DE repeated flares of sudden onset consisting of diffuse erythematous
DE skin eruption characterized by rapid coverage with pustules, high-
DE grade fever, asthenia, marked leukocytosis, and elevated serum levels
DE of C-reactive protein.
DR MIM; 616106; phenotype.
DR MedGen; CN225908.
DR MeSH; D011565.
//
ID Psoriasis 2.
AC DI-03462
AR PSORS2.
DE A common, chronic inflammatory disease of the skin with multifactorial
DE etiology. It is characterized by red, scaly plaques usually found on
DE the scalp, elbows and knees. These lesions are caused by abnormal
DE keratinocyte proliferation and infiltration of inflammatory cells into
DE the dermis and epidermis.
SY Psoriasis.
SY Psoriasis vulgaris.
SY PV.
DR MIM; 602723; phenotype.
DR MedGen; C1864497.
DR MeSH; D011565.
//
ID Psoriasis 7.
AC DI-02668
AR PSORS7.
DE A common, chronic inflammatory disease of the skin with multifactorial
DE etiology. It is characterized by red, scaly plaques usually found on
DE the scalp, elbows and knees. These lesions are caused by abnormal
DE keratinocyte proliferation and infiltration of inflammatory cells into
DE the dermis and epidermis.
SY Psoriasis.
SY Psoriasis vulgaris.
SY PV.
DR MIM; 605606; phenotype.
DR MedGen; C1854124.
DR MeSH; D011565.
//
ID Psoriatic arthritis.
AC DI-02697
AR PSORAS.
DE An inflammatory, seronegative arthritis associated with psoriasis. It
DE is a heterogeneous disorder ranging from a mild, non-destructive
DE disease to a severe, progressive, erosive arthropathy. Five types of
DE psoriatic arthritis have been defined: asymmetrical oligoarthritis
DE characterized by primary involvement of the small joints of the
DE fingers or toes; asymmetrical arthritis which involves the joints of
DE the extremities; symmetrical polyarthritis characterized by a
DE rheumatoid like pattern that can involve hands, wrists, ankles, and
DE feet; arthritis mutilans, which is a rare but deforming and
DE destructive condition; arthritis of the sacroiliac joints and spine
DE (psoriatic spondylitis).
SY Arthritic psoriasis.
SY Psoriasis arthropathica.
SY Psoriatic arthropathy.
DR MIM; 607507; phenotype.
DR MedGen; C1835223.
DR MedGen; C1843772.
DR MeSH; D015535.
//
ID Psychomotor retardation, epilepsy, and craniofacial dysmorphism.
AC DI-03405
AR PMRED.
DE A disease characterized by severe psychomotor retardation, intractable
DE seizures, dysmorphic features, and a lumpy skull surface. Patients are
DE hypotonic and have poor feeding in the neonatal period.
DR MIM; 614501; phenotype.
DR MedGen; C3281055.
DR MeSH; D004827.
DR MeSH; D011596.
DR MeSH; D019465.
KW KW-0887:Epilepsy.
//
ID Pulmonary alveolar microlithiasis.
AC DI-02232
AR PULAM.
DE Rare disease characterized by the deposition of calcium phosphate
DE microliths throughout the lungs. Most patients are asymptomatic for
DE several years or even for decades and generally, the diagnosis is
DE incidental to clinical investigations unrelated to the disease. Cases
DE with early-onset or rapid progression are rare. A 'sandstorm-
DE appearing' chest roentgenogram is a typical diagnostic finding. The
DE onset of this potentially lethal disease varies from the neonatal
DE period to old age and the disease follows a long-term, progressive
DE course, resulting in a slow deterioration of lung functions. Pulmonary
DE alveolar microlithiasis is a recessive monogenic disease with full
DE penetrance.
DR MIM; 265100; phenotype.
DR MedGen; C0155912.
//
ID Pulmonary disease, chronic obstructive.
AC DI-01352
AR COPD.
DE A common, complex disorder defined by irreversible airflow obstruction
DE due to chronic bronchitis, emphysema, and/or small airways disease.
DE Airflow obstruction is typically determined by reductions in
DE quantitative spirometric indices, including forced expiratory volume
DE at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity
DE (FVC).
SY Chronic obstructive lung disease.
SY Severe early-onset chronic obstructive pulmonary disease.
DR MIM; 606963; phenotype.
DR MedGen; C1847014.
DR MedGen; C1969833.
DR MedGen; C2751329.
DR MeSH; D029424.
//
ID Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1.
AC DI-03500
AR PFBMFT1.
DE An autosomal dominant disease associated with shortened telomeres.
DE Pulmonary fibrosis is the most common manifestation. Other
DE manifestations include aplastic anemia due to bone marrow failure,
DE hepatic fibrosis, and increased cancer risk, particularly
DE myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at
DE onset, and severity are determined by telomere length.
DR MIM; 614742; phenotype.
DR MedGen; C3553617.
DR MedGen; CN130951.
DR MeSH; D000080983.
DR MeSH; D011658.
//
ID Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 3.
AC DI-04431
AR PFBMFT3.
DE An autosomal dominant disease associated with shortened telomeres.
DE Pulmonary fibrosis is the most common manifestation. Other
DE manifestations include aplastic anemia due to bone marrow failure,
DE hepatic fibrosis, and increased cancer risk, particularly
DE myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at
DE onset, and severity are determined by telomere length.
DR MIM; 616373; phenotype.
DR MedGen; CN230446.
DR MeSH; D000080983.
DR MeSH; D011658.
//
ID Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 4.
AC DI-04430
AR PFBMFT4.
DE An autosomal dominant disease associated with shortened telomeres.
DE Pulmonary fibrosis is the most common manifestation. Other
DE manifestations include aplastic anemia due to bone marrow failure,
DE hepatic fibrosis, and increased cancer risk, particularly
DE myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at
DE onset, and severity are determined by telomere length.
DR MIM; 616371; phenotype.
DR MedGen; CN230445.
DR MeSH; D000080983.
DR MeSH; D011658.
//
ID Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 5.
AC DI-05708
AR PFBMFT5.
DE A disease associated with shortened telomeres. Pulmonary fibrosis is
DE the most common manifestation. Other manifestations include aplastic
DE anemia due to bone marrow failure, hepatic fibrosis, and increased
DE cancer risk, particularly myelodysplastic syndrome and acute myeloid
DE leukemia. Phenotype, age at onset, and severity are determined by
DE telomere length. PFBMFT5 inheritance is autosomal dominant.
DR MIM; 618674; phenotype.
DR MedGen; CN262924.
DR MeSH; D000080983.
DR MeSH; D011658.
//
ID Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 6.
AC DI-06355
AR PFBMFT6.
DE An autosomal dominant disease associated with shortened telomeres.
DE Pulmonary fibrosis is the most common manifestation. Other
DE manifestations include aplastic anemia due to bone marrow failure,
DE hepatic fibrosis, and increased cancer risk, particularly
DE myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at
DE onset, and severity are determined by telomere length.
DR MIM; 619767; phenotype.
DR MedGen; CN306958.
DR MeSH; D000080983.
DR MeSH; D011658.
//
ID Pulmonary hypertension, neonatal.
AC DI-03858
AR PHN.
DE A disease characterized by elevated pulmonary artery pressure.
DE Pulmonary hypertension in the neonate is associated with multiple
DE underlying problems such as respiratory distress syndrome, meconium
DE aspiration syndrome, congenital diaphragmatic hernia, bronchopulmonary
DE dysplasia, sepsis, or congenital heart disease.
DR MIM; 615371; phenotype.
DR MedGen; C0032768.
DR MedGen; C3714958.
DR MeSH; D006976.
//
ID Pulmonary hypertension, primary, 1.
AC DI-00942
AR PPH1.
DE A rare disorder characterized by plexiform lesions of proliferating
DE endothelial cells in pulmonary arterioles. The lesions lead to
DE elevated pulmonary arterial pression, right ventricular failure, and
DE death. The disease can occur from infancy throughout life and it has a
DE mean age at onset of 36 years. Penetrance is reduced. Although
DE familial pulmonary hypertension is rare, cases secondary to known
DE etiologies are more common and include those associated with the
DE appetite-suppressant drugs.
DR MIM; 178600; phenotype.
DR MedGen; C0152171.
DR MedGen; C1969342.
DR MedGen; C1969343.
DR MedGen; C2750263.
DR MedGen; C2973725.
DR MeSH; D006976.
//
ID Pulmonary hypertension, primary, 2.
AC DI-03835
AR PPH2.
DE A rare disorder characterized by plexiform lesions of proliferating
DE endothelial cells in pulmonary arterioles. The lesions lead to
DE elevated pulmonary arterial pression, right ventricular failure, and
DE death. The disease can occur from infancy throughout life and it has a
DE mean age at onset of 36 years. Penetrance is reduced. Although
DE familial pulmonary hypertension is rare, cases secondary to known
DE etiologies are more common and include those associated with the
DE appetite-suppressant drugs.
DR MIM; 615342; phenotype.
DR MedGen; CN178221.
DR MeSH; D006976.
//
ID Pulmonary hypertension, primary, 3.
AC DI-03836
AR PPH3.
DE A rare disorder characterized by plexiform lesions of proliferating
DE endothelial cells in pulmonary arterioles. The lesions lead to
DE elevated pulmonary arterial pression, right ventricular failure, and
DE death. The disease can occur from infancy throughout life and it has a
DE mean age at onset of 36 years. Penetrance is reduced. Although
DE familial pulmonary hypertension is rare, cases secondary to known
DE etiologies are more common and include those associated with the
DE appetite-suppressant drugs.
DR MIM; 615343; phenotype.
DR MedGen; C3809192.
DR MedGen; CN178222.
DR MeSH; D006976.
//
ID Pulmonary hypertension, primary, 4.
AC DI-03837
AR PPH4.
DE A rare disorder characterized by plexiform lesions of proliferating
DE endothelial cells in pulmonary arterioles. The lesions lead to
DE elevated pulmonary arterial pression, right ventricular failure, and
DE death. The disease can occur from infancy throughout life and it has a
DE mean age at onset of 36 years. Penetrance is reduced. Although
DE familial pulmonary hypertension is rare, cases secondary to known
DE etiologies are more common and include those associated with the
DE appetite-suppressant drugs.
DR MIM; 615344; phenotype.
DR MedGen; C3809198.
DR MedGen; CN178403.
DR MeSH; D006976.
//
ID Pulmonary surfactant metabolism dysfunction 1.
AC DI-00960
AR SMDP1.
DE A rare lung disorder due to impaired surfactant homeostasis. It is
DE characterized by alveolar filling with floccular material that stains
DE positive using the periodic acid-Schiff method and is derived from
DE surfactant phospholipids and protein components. Excessive
DE lipoproteins accumulation in the alveoli results in severe respiratory
DE distress.
SY Congenital pulmonary alveolar proteinosis 1.
SY Interstitial lung disease due to surfactant protein B deficiency.
SY Interstitial lung disease non-specific due to surfactant protein B deficiency.
SY PAP.
DR MIM; 265120; phenotype.
DR MedGen; C1968602.
DR MeSH; D011649.
//
ID Pulmonary surfactant metabolism dysfunction 2.
AC DI-00961
AR SMDP2.
DE A rare disease associated with progressive respiratory insufficiency
DE and lung disease with a variable clinical course, due to impaired
DE surfactant homeostasis. It is characterized by alveolar filling with
DE floccular material that stains positive using the periodic acid-Schiff
DE method and is derived from surfactant phospholipids and protein
DE components. Excessive lipoproteins accumulation in the alveoli results
DE in severe respiratory distress.
SY Congenital pulmonary alveolar proteinosis 2.
SY Desquamative interstitial pneumonitis due to surfactant protein C deficiency.
SY Interstitial lung disease due to surfactant protein C deficiency.
SY PAP.
DR MIM; 610913; phenotype.
DR MedGen; C1970470.
DR MeSH; D011649.
//
ID Pulmonary surfactant metabolism dysfunction 3.
AC DI-00962
AR SMDP3.
DE A rare lung disorder due to impaired surfactant homeostasis. It is
DE characterized by alveolar filling with floccular material that stains
DE positive using the periodic acid-Schiff method and is derived from
DE surfactant phospholipids and protein components. Excessive
DE lipoproteins accumulation in the alveoli results in severe respiratory
DE distress.
SY Congenital pulmonary alveolar proteinosis 3.
SY Interstitial lung disease due to ABCA3 deficiency.
SY PAP.
DR MIM; 610921; phenotype.
DR MedGen; C1970456.
DR MeSH; D011649.
//
ID Pulmonary surfactant metabolism dysfunction 4.
AC DI-00963
AR SMDP4.
DE A rare lung disorder due to impaired surfactant homeostasis. It is
DE characterized by alveolar filling with floccular material that stains
DE positive using the periodic acid-Schiff method and is derived from
DE surfactant phospholipids and protein components. Excessive
DE lipoproteins accumulation in the alveoli results in severe respiratory
DE distress.
SY Congenital pulmonary alveolar proteinosis 4.
SY CSF2RA deficiency.
SY PAP.
SY PAP due to CSF2RA deficiency.
DR MIM; 300770; phenotype.
DR MedGen; C2677877.
DR MeSH; D011649.
//
ID Pulmonary surfactant metabolism dysfunction 5.
AC DI-03322
AR SMDP5.
DE A rare lung disorder due to impaired surfactant homeostasis. It is
DE characterized by alveolar filling with floccular material that stains
DE positive using the periodic acid-Schiff method and is derived from
DE surfactant phospholipids and protein components. Excessive
DE lipoproteins accumulation in the alveoli results in severe respiratory
DE distress.
SY CSF2RB deficiency.
SY PAP5.
SY PAP due to CSF2RB deficiency.
SY Pulmonary alveolar proteinosis 5.
DR MIM; 614370; phenotype.
DR MedGen; C3280574.
DR MeSH; D011649.
//
ID Pulmonary venoocclusive disease 1, autosomal dominant.
AC DI-02233
AR PVOD1.
DE A disease characterized by widespread fibrous obstruction and intimal
DE thickening of septal veins and preseptal venules, a low diffusing
DE capacity for carbon monoxide, occult alveolar hemorrhage, and nodular
DE ground-glass opacities, septal lines and lymph node enlargement showed
DE by high-resolution computed tomography of the chest. It is frequently
DE associated with pulmonary capillary dilatation and proliferation, and
DE is a rare and devastating cause of pulmonary hypertension.
SY Pulmonary veno-occlusive disease.
SY PVOD.
DR MIM; 265450; phenotype.
DR MedGen; C0034091.
DR MeSH; D006976.
DR MeSH; D011668.
//
ID Pulmonary venoocclusive disease 2, autosomal recessive.
AC DI-04023
AR PVOD2.
DE A disease characterized by widespread fibrous obstruction and intimal
DE thickening of septal veins and preseptal venules, a low diffusing
DE capacity for carbon monoxide, occult alveolar hemorrhage, and nodular
DE ground-glass opacities, septal lines and lymph node enlargement showed
DE by high-resolution computed tomography of the chest. It is frequently
DE associated with pulmonary capillary dilatation and proliferation, and
DE is a rare and devastating cause of pulmonary hypertension.
SY Familial pulmonary capillary hemangiomatosis.
DR MIM; 234810; phenotype.
DR MedGen; C0340848.
DR MeSH; D006976.
DR MeSH; D011668.
//
ID Purine nucleoside phosphorylase deficiency.
AC DI-02081
AR PNPD.
DE A disorder that interrupts both the catabolism of inosine into
DE hypoxanthine and guanosine into guanine, and leads to the accumulation
DE of guanosine, inosine, and their deoxified by-products. The main
DE clinical presentation is recurrent infections due to severe T-cell
DE immunodeficiency. Some patients also have neurologic impairment.
SY Immunodeficiency due to purine nucleoside phosphorylase deficiency.
SY Nucleoside phosphorylase deficiency.
DR MIM; 613179; phenotype.
DR MedGen; C0268125.
DR MeSH; D011686.
//
ID Pycnodysostosis.
AC DI-00964
AR PKND.
DE A rare autosomal recessive bone disorder characterized by deformity of
DE the skull, maxilla and phalanges, osteosclerosis, and fragility of
DE bone.
DR MIM; 265800; phenotype.
DR MedGen; C0238402.
DR MeSH; D058631.
//
ID Pyle disease.
AC DI-04785
AR PYL.
DE A disorder characterized by cortical-bone thinning, limb deformity,
DE bone fragility and fractures.
SY Metaphyseal dysplasia, Pyle type.
DR MIM; 265900; phenotype.
DR MedGen; C0265294.
DR MeSH; D010009.
//
ID Pyridoxine-5'-phosphate oxidase deficiency.
AC DI-02235
AR PNPOD.
DE The main feature of neonatal epileptic encephalopathy is the onset
DE within hours of birth of a severe seizure disorder that does not
DE respond to anticonvulsant drugs and can be fatal. Seizures can cease
DE with the administration of PLP, being resistant to treatment with
DE pyridoxine,.
SY PNPO deficiency.
SY PNPO-related neonatal epileptic encephalopathy.
SY Seizures, pyridoxine-resistant, PLP-sensitive.
DR MIM; 610090; phenotype.
DR MedGen; C1864723.
DR MeSH; D001928.
DR MeSH; D012640.
//
ID Pyridoxine-dependent epilepsy.
AC DI-02236
AR PDE.
DE Characterized by a combination of various seizure types. It usually
DE occurs in the first hours of life and is unresponsive to standard
DE anticonvulsants, responding only to immediate administration of
DE pyridoxine hydrochloride.
DR MIM; 266100; phenotype.
DR MedGen; C1849508.
//
ID Pyrin-associated autoinflammatory disease.
AC DI-05865
AR PAAND.
DE An autosomal dominant autoinflammatory disorder characterized by
DE childhood onset of recurrent episodes of fever, neutrophilic
DE dermatosis, myalgia and arthralgia. The neutrophilic dermatosis
DE comprises a spectrum of clinical manifestations, including severe
DE acne, sterile skin abscesses, pyoderma gangrenosum, and neutrophilic
DE small-vessel vasculitis. Pathological examination of affected skin
DE shows a dense, predominantly neutrophilic, vascular, perivascular, and
DE interstitial infiltrate. PAAND has incomplete penetrance and variable
DE expressivity.
SY AFND.
SY Gomm-Button disease.
SY Neutrophilic dermatosis, acute febrile.
SY SS.
SY Sweet syndrome.
DR MIM; 608068; phenotype.
DR MedGen; C0085077.
DR MeSH; D056660.
//
ID Pyruvate carboxylase deficiency.
AC DI-02237
AR PC deficiency.
DE Leads to lactic acidosis, intellectual disability and death. It occurs
DE in three forms: mild or type A, severe neonatal or type B, and a very
DE mild lacticacidemia.
DR MIM; 266150; phenotype.
DR MedGen; C0034341.
DR MedGen; C2931141.
//
ID Pyruvate dehydrogenase E1-alpha deficiency.
AC DI-02238
AR PDHAD.
DE An enzymatic defect causing primary lactic acidosis in children. It is
DE associated with a broad clinical spectrum ranging from fatal lactic
DE acidosis in the newborn to chronic neurologic dysfunction with
DE structural abnormalities in the central nervous system without
DE systemic acidosis.
SY Ataxia intermittent with abnormal pyruvate metabolism.
SY Ataxia intermittent with pyruvate dehydrogenase or decarboxylase deficiency.
SY Ataxia with lactic acidosis I.
SY PDH deficiency.
SY Pyruvate decarboxylase deficiency.
SY Pyruvate dehydrogenase deficiency.
DR MIM; 312170; phenotype.
DR MedGen; C0034345.
DR MedGen; C1839413.
DR MedGen; C1839414.
DR MedGen; C1839885.
DR MeSH; D015325.
//
ID Pyruvate dehydrogenase E1-beta deficiency.
AC DI-03205
AR PDHBD.
DE An enzymatic defect causing primary lactic acidosis in children. It is
DE associated with a broad clinical spectrum ranging from fatal lactic
DE acidosis in the newborn to chronic neurologic dysfunction with
DE structural abnormalities in the central nervous system without
DE systemic acidosis.
SY PDH deficiency.
SY Pyruvate dehydrogenase deficiency.
DR MIM; 614111; phenotype.
DR MedGen; C1867399.
DR MedGen; C3279841.
DR MeSH; D015325.
//
ID Pyruvate dehydrogenase E2 deficiency.
AC DI-02239
AR PDHE2 deficiency.
DE Pyruvate dehydrogenase (PDH) deficiency is a major cause of primary
DE lactic acidosis and neurological dysfunction in infancy and early
DE childhood. In this form of PDH deficiency episodic dystonia is the
DE major neurological manifestation, with other more common features of
DE pyruvate dehydrogenase deficiency, such as hypotonia and ataxia, being
DE less prominent.
SY Lactic acidemia due to defect of E2 lipoyl transacetylase of the pyruvate dehydrogenase complex.
DR MIM; 245348; phenotype.
DR MedGen; C1855565.
//
ID Pyruvate dehydrogenase E3-binding protein deficiency.
AC DI-01872
AR PDHXD.
DE A metabolic disorder characterized by decreased activity of the
DE pyruvate dehydrogenase complex without observable reduction in the
DE activities of enzymes E1, E2, or E3. Clinical features include
DE hypotonia and psychomotor retardation.
SY Lactic acidemia due to defect in lipoyl-containing component X of the pyruvate dehydrogenase complex.
SY Lacticacidemia due to PDX1 deficiency.
DR MIM; 245349; phenotype.
DR MedGen; C1855553.
DR MeSH; D000140.
//
ID Pyruvate dehydrogenase phosphatase deficiency.
AC DI-02240
AR PDP deficiency.
DE Results in lactic acidosis leading to neurological dysfunction.
DR MIM; 608782; phenotype.
DR MedGen; C1837429.
//
ID Pyruvate kinase deficiency of red cells.
AC DI-00965
AR PKRD.
DE A frequent cause of hereditary non-spherocytic hemolytic anemia.
DE Clinically, pyruvate kinase-deficient patients suffer from a highly
DE variable degree of chronic hemolysis, ranging from severe neonatal
DE jaundice and fatal anemia at birth, severe transfusion-dependent
DE chronic hemolysis, moderate hemolysis with exacerbation during
DE infection, to a fully compensated hemolysis without apparent anemia.
SY Hemolytic anemia due to red cell pyruvate kinase deficiency.
SY Hereditary non-spherocytic hemolytic anemia due to pyruvate kinase deficiency.
SY HNSHA.
SY PK deficiency.
SY Pyruvate kinase deficiency of erythrocyte.
SY Pyruvate kinase-deficient hemolytic anemia.
SY Red cell pyruvate kinase deficiency.
DR MIM; 266200; phenotype.
DR MedGen; C0340968.
DR MedGen; C1849472.
DR MeSH; D000746.
KW KW-0360:Hereditary hemolytic anemia.
//
ID Pyruvate kinase hyperactivity.
AC DI-02241
AR PKHYP.
DE Autosomal dominant phenotype characterized by increase of red blood
DE cell ATP.
SY High red cell ATP syndrome.
DR MIM; 102900; phenotype.
DR MedGen; C1863224.
//
ID Quebec platelet disorder.
AC DI-03256
AR QPD.
DE An autosomal dominant bleeding disorder due to a gain-of-function
DE defect in fibrinolysis. Although affected individuals do not exhibit
DE systemic fibrinolysis, they show delayed onset bleeding after
DE challenge, such as surgery. The hallmark of the disorder is markedly
DE increased PLAU levels within platelets, which causes intraplatelet
DE plasmin generation and secondary degradation of alpha-granule
DE proteins.
SY BDPLT5.
SY Bleeding disorder platelet-type 5.
SY Factor V Quebec.
DR MIM; 601709; phenotype.
DR MedGen; C1866423.
DR MeSH; D006470.
//
ID Question mark ears, isolated.
AC DI-04053
AR QME.
DE An auricular abnormality characterized by a cleft between the lobule
DE and the lower part of the helix, sometimes accompanied by a prominent
DE or deficient upper part of the helix, shallow skin dimple on the
DE posterior surface of the ear, or transposition of the ear
DE lobe/antitragus.
SY Congenital auricular cleft.
SY Cosman deformity of the auricle.
SY Prominent and constricted ears.
DR MIM; 612798; phenotype.
DR MedGen; C2748545.
DR MeSH; D004427.
//
ID Rabson-Mendenhall syndrome.
AC DI-02242
AR RMS.
DE Severe insulin resistance syndrome characterized by insulin-resistant
DE diabetes mellitus with pineal hyperplasia and somatic abnormalities.
DE Typical features include coarse, senile-appearing facies, dental and
DE skin abnormalities, abdominal distension, and phallic enlargement.
DE Inheritance is autosomal recessive.
SY Mendenhall syndrome.
DR MIM; 262190; phenotype.
DR MedGen; C0271695.
//
ID Radio-Tartaglia syndrome.
AC DI-06099
AR RATARS.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE global developmental delay, hypotonia, mild motor difficulties,
DE impaired intellectual development, speech delay, craniofacial
DE dysmorphism, and variable behavioral abnormalities.
DR MIM; 619312; phenotype.
DR MedGen; CN296672.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Radiohumeral fusions with other skeletal and craniofacial anomalies.
AC DI-03424
AR RHFCA.
DE A disease characterized by craniofacial malformations, occipital
DE encephalocele, radiohumeral fusions, oligodactyly, advanced osseous
DE maturation, and calvarial mineralization defects.
SY Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies.
DR MIM; 614416; phenotype.
DR MedGen; C3280729.
DR MeSH; D013580.
KW KW-0989:Craniosynostosis.
//
ID Radioulnar synostosis with amegakaryocytic thrombocytopenia 1.
AC DI-02243
AR RUSAT1.
DE The syndrome consists of an unusual association of bone marrow failure
DE and skeletal defects. Patients have the same skeletal defects, the
DE proximal fusion of the radius and ulna, resulting in extremely limited
DE pronation and supination of the forearm. Some patients have also
DE symptomatic thrombocytopenia, with bruising and bleeding problems
DE since birth, necessitating correction by bone marrow or umbilical-cord
DE stem-cell transplantation.
SY CTRUS.
SY Radio-ulnar synostosis with amegakaryocytic thrombocytopenia.
SY RUSAT.
SY Thrombocytopenia, congenital, with radioulnar synostosis.
DR MIM; 605432; phenotype.
DR MedGen; C1854273.
DR MeSH; D013580.
DR MeSH; D013921.
//
ID Radioulnar synostosis with amegakaryocytic thrombocytopenia 2.
AC DI-04632
AR RUSAT2.
DE An autosomal dominant disease characterized by proximal fusion of the
DE radius and ulna resulting in extremely limited pronation and
DE supination of the forearm, and congenital thrombocytopenia that
DE progresses to pancytopenia.
SY Radioulnar synostosis and amegakaryocytic thrombocytopenia 2.
DR MIM; 616738; phenotype.
DR MedGen; CN234780.
DR MeSH; D013580.
DR MeSH; D013921.
//
ID Radioulnar synostosis, non-syndromic.
AC DI-05849
AR RUS.
DE An autosomal dominant disease characterized by proximal fusion of the
DE radius and ulna resulting in extremely limited pronation and
DE supination of the forearm. There are two disease forms. Radioulnar
DE synostosis type 1 is characterized by a proximal fusion between the
DE radius and ulna, and the radial head is absent. Radioulnar synostosis
DE type 2 is characterized by a fusion just distal to the proximal radial
DE epiphysis, and congenital dislocation of the radial head. In
DE radioulnar synostosis type 2 there is also a restriction of extension
DE at the elbow.
DR MIM; 179300; phenotype.
DR MedGen; C0158761.
DR MeSH; D013580.
//
ID Rafiq syndrome.
AC DI-03241
AR RAFQS.
DE An autosomal recessive disorder characterized by variably impaired
DE intellectual and motor development, a characteristic facial
DE dysmorphism, truncal obesity, and hypotonia. The facial dysmorphism
DE comprises prominent eyebrows with lateral thinning, downward-slanting
DE palpebral fissures, bulbous tip of the nose, large ears, and a thin
DE upper lip. Behavioral problems, including overeating, verbal and
DE physical aggression, have been reported in some cases. Serum
DE transferrin isoelectric focusing shows a type 2 pattern.
SY CDG2U.
SY MRT15.
DR MIM; 614202; phenotype.
DR MedGen; C3280127.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Rahman syndrome.
AC DI-05023
AR RMNS.
DE An autosomal dominant syndrome characterized by intellectual
DE disability and overgrowth manifesting as increased birth length,
DE height, weight, and/or head circumference.
DR MIM; 617537; phenotype.
DR MedGen; CN280277.
DR MeSH; D006130.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Raine syndrome.
AC DI-02244
AR RNS.
DE Autosomal recessive osteosclerotic bone dysplasia with neonatal lethal
DE outcome. Clinical features include generalized osteosclerosis,
DE craniofacial dysplasia and microcephaly.
DR MIM; 259775; phenotype.
DR MedGen; C1850106.
//
ID Rajab interstitial lung disease with brain calcifications 1.
AC DI-05269
AR RILDBC1.
DE An autosomal recessive, lethal neurodevelopmental disorder
DE characterized by multiple clinical manifestations including
DE intrauterine growth restriction, failure to thrive, developmental
DE delay, hypotonia, interstitial lung disease, and liver dysfunction.
DE Brain imaging shows abnormal periventricular white matter, basal
DE ganglia echogenicity, cerebral volume loss, incomplete closure of the
DE Sylvian fissures, and normal myelination.
SY Developmental delay, small stature, microcephaly, and brain calcifications.
SY NEDBLLA.
SY Neurodevelopmental disorder with brain, liver, and lung abnormalities.
SY Rajab syndrome.
DR MIM; 613658; phenotype.
DR MedGen; C3150910.
DR MeSH; D065886.
//
ID Rajab interstitial lung disease with brain calcifications 2.
AC DI-05916
AR RILDBC2.
DE An autosomal recessive disorder characterized by interstitial lung
DE disease, growth delay, hypotonia, liver disease, and brain
DE abnormalities including diffuse, symmetrical brain calcifications and
DE periventricular cysts.
DR MIM; 619013; phenotype.
DR MedGen; CN283355.
DR MeSH; D001927.
DR MeSH; D002114.
DR MeSH; D017563.
//
ID RAPADILINO syndrome.
AC DI-02245
AR RAPADILINOS.
DE Disease characterized by radial and patellar aplasia or hypoplasia.
DR MIM; 266280; phenotype.
DR MedGen; C1849453.
//
ID Rapp-Hodgkin syndrome.
AC DI-00428
AR RHS.
DE A form of ectodermal dysplasia, a heterogeneous group of disorders due
DE to abnormal development of two or more ectodermal structures.
DE Characterized by the combination of anhidrotic ectodermal dysplasia,
DE cleft lip, and cleft palate. The clinical syndrome is comprised of a
DE characteristic facies (narrow nose and small mouth), wiry, slow-
DE growing, and uncombable hair, sparse eyelashes and eyebrows,
DE obstructed lacrimal puncta/epiphora, bilateral stenosis of external
DE auditory canals, microsomia, hypodontia, cone-shaped incisors, enamel
DE hypoplasia, dystrophic nails, and cleft lip/cleft palate. RHS
DE inheritance is autosomal dominant.
SY Anhidrotic ectodermal dysplasia with cleft lip/palate.
SY Ectodermal dysplasia, Rapp-Hodgkin type.
SY EDRH.
SY Rapp-Hodgkin ectodermal dysplasia.
DR MIM; 129400; phenotype.
DR MedGen; CN203427.
DR MeSH; D004476.
KW KW-0038:Ectodermal dysplasia.
//
ID RAS-associated autoimmune leukoproliferative disorder.
AC DI-03381
AR RALD.
DE A disorder of apoptosis, characterized by chronic accumulation of non-
DE malignant lymphocytes, defective lymphocyte apoptosis, and an
DE increased risk for the development of hematologic malignancies.
SY ALPS4.
SY Autoimmune lymphoproliferative syndrome, type IV.
SY Autoimmune lymphoproliferative syndrome 4.
DR MIM; 614470; phenotype.
DR MedGen; C2674723.
DR MeSH; D056735.
//
ID Rauch-Steindl syndrome.
AC DI-06312
AR RAUST.
DE An autosomal dominant disorder characterized by poor pre- and
DE postnatal growth, facial dysmorphism, and variable developmental delay
DE with delayed motor and speech acquisition and impaired intellectual.
DE Other features may include hypotonia and behavioral abnormalities.
DR MIM; 619695; phenotype.
DR MedGen; CN305780.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Raynaud-Claes syndrome.
AC DI-04808
AR MRXSRC.
DE An X-linked syndrome characterized by borderline to severe
DE intellectual disability and impaired language development. Additional
DE features include behavioral problems, psychiatric disorders, seizures,
DE progressive ataxia, brain abnormalities, and facial dysmorphisms.
SY MRX49.
DR MIM; 300114; phenotype.
DR MedGen; C3887959.
DR MedGen; CN031541.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Recurrent myoglobinuria mitochondrial.
AC DI-02775
AR RM-MT.
DE Recurrent myoglobinuria is characterized by recurrent attacks of
DE rhabdomyolysis (necrosis or disintegration of skeletal muscle)
DE associated with muscle pain and weakness, and followed by excretion of
DE myoglobin in the urine.
DR MIM; 550500; phenotype.
DR MedGen; C1838877.
DR MeSH; D009212.
//
ID Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset.
AC DI-02458
AR RBMX1A.
DE A rare myopathy clinically characterized by rapidly progressive
DE muscular weakness, and pathologically by the presence of
DE intracytoplasmic inclusion bodies strongly stained by menadione-linked
DE alpha-glycerophosphate dehydrogenase in the absence of substrate,
DE alpha-glycerophosphate. The term 'reducing body' refers to the
DE reducing activity of the inclusions to nitroblue tetrazolium in the
DE absence of substrate. This condition is also commonly associated with
DE rimmed vacuoles and cytoplasmic bodies. Death in childhood is frequent
DE in the severe form of the disease, due to respiratory failure.
SY Myopathy, reducing body, X-linked, early-onset, severe.
DR MIM; 300717; phenotype.
DR MedGen; C2678027.
DR MeSH; D009135.
//
ID Reducing body myopathy, X-linked 1B, with late childhood or adult onset.
AC DI-02435
AR RBMX1B.
DE A rare myopathy clinically characterized by rapidly progressive
DE muscular weakness, and pathologically by the presence of
DE intracytoplasmic inclusion bodies strongly stained by menadione-linked
DE alpha-glycerophosphate dehydrogenase in the absence of substrate,
DE alpha-glycerophosphate. The term 'reducing body' refers to the
DE reducing activity of the inclusions to nitroblue tetrazolium in the
DE absence of substrate. This condition is also commonly associated with
DE rimmed vacuoles and cytoplasmic bodies.
DR MIM; 300718; phenotype.
DR MedGen; C2678015.
DR MeSH; D009135.
//
ID Refsum disease.
AC DI-00966
AR RD.
DE A rare autosomal recessive peroxisomal disorder characterized by the
DE accumulation of the branched-chain fatty acid, phytanic acid, in blood
DE and tissues. Cardinal clinical features are retinitis pigmentosa,
DE peripheral neuropathy, cerebellar ataxia, and elevated protein levels
DE in the cerebrospinal fluid (CSF). Half of all patients exhibit
DE generalized, mild to moderate ichthyosis resembling ichthyosis
DE vulgaris. Less constant features are nerve deafness, anosmia, skeletal
DE abnormalities, cataracts and cardiac impairment.
SY Hereditary motor and sensory neuropathy IV.
SY Heredopathia atactica polyneuritiformis.
SY HMSN4.
SY HMSN IV.
SY Phytanic acid oxidase deficiency.
SY Refsum's disease.
DR MIM; 266500; phenotype.
DR MedGen; C0034960.
DR MedGen; C2749345.
DR MeSH; D012035.
KW KW-0209:Deafness.
KW KW-0682:Retinitis pigmentosa.
KW KW-0898:Cataract.
KW KW-0958:Peroxisome biogenesis disorder.
KW KW-0977:Ichthyosis.
//
ID Regulator type Rh-null hemolytic anemia.
AC DI-02251
AR RHN.
DE Form of chronic hemolytic anemia in which the red blood cells have a
DE stomatocytosis and spherocytosis morphology, an increased osmotic
DE fragility, an altered ion transport system, and abnormal membrane
DE phospholipid organization.
SY Rh-deficiency syndrome.
DR MIM; 268150; phenotype.
DR MedGen; C0272052.
DR MedGen; C1849387.
//
ID Renal cell carcinoma.
AC DI-02254
AR RCC.
DE Renal cell carcinoma is a heterogeneous group of sporadic or
DE hereditary carcinoma derived from cells of the proximal renal tubular
DE epithelium. It is subclassified into clear cell renal carcinoma (non-
DE papillary carcinoma), papillary renal cell carcinoma, chromophobe
DE renal cell carcinoma, collecting duct carcinoma with medullary
DE carcinoma of the kidney, and unclassified renal cell carcinoma. Clear
DE cell renal cell carcinoma is the most common subtype.
SY Adenocarcinoma of kidney.
SY CCRCC.
SY Clear cell renal carcinoma.
SY Common renal cell carcinoma.
SY Conventional renal cell carcinoma.
SY CRCC.
SY Hypernephroma.
SY Renal cell carcinoma non-papillary.
DR MIM; 144700; phenotype.
DR MedGen; C0279702.
DR MedGen; C2750825.
DR MedGen; C3160732.
DR MeSH; D002292.
//
ID Renal cell carcinoma papillary.
AC DI-01732
AR RCCP.
DE A subtype of renal cell carcinoma tending to show a tubulo-papillary
DE architecture formed by numerous, irregular, finger-like projections of
DE connective tissue. Renal cell carcinoma is a heterogeneous group of
DE sporadic or hereditary carcinoma derived from cells of the proximal
DE renal tubular epithelium.
SY Chromophilic renal cell carcinoma.
SY PRCC.
DR MIM; 605074; phenotype.
DR MedGen; C0007134.
DR MedGen; C1336839.
DR MeSH; D002292.
//
ID Renal cell carcinoma Xp11-associated.
AC DI-03249
AR RCCX1.
DE Renal cell carcinoma is a heterogeneous group of sporadic or
DE hereditary carcinoma derived from cells of the proximal renal tubular
DE epithelium. It is subclassified into clear cell renal carcinoma (non-
DE papillary carcinoma), papillary renal cell carcinoma, chromophobe
DE renal cell carcinoma, collecting duct carcinoma with medullary
DE carcinoma of the kidney, and unclassified renal cell carcinoma. RCCX1
DE histology shows both clear cells and papillary architecture, often
DE with abundant psammoma bodies, although variable histologic features
DE have been observed.
SY Renal cell carcinoma papillary 1.
DR MIM; 300854; phenotype.
DR MedGen; C3275446.
DR MeSH; D002292.
//
ID Renal cysts and diabetes syndrome.
AC DI-00967
AR RCAD.
DE An autosomal dominant disorder comprising non-diabetic renal disease
DE resulting from abnormal renal development, and diabetes, which in some
DE cases occurs earlier than age 25 years and is thus consistent with a
DE diagnosis of maturity-onset diabetes of the young (MODY5). The renal
DE disease is highly variable and includes renal cysts, glomerular tufts,
DE aberrant nephrogenesis, primitive tubules, irregular collecting
DE systems, oligomeganephronia, enlarged renal pelves, abnormal calyces,
DE small kidney, single kidney, horseshoe kidney, and hyperuricemic
DE nephropathy. Affected individuals may also have abnormalities of the
DE genital tract.
SY ADTKD3.
SY Atypical familial juvenile hyperuricemic nephropathy.
SY Atypical FJHN.
SY CAKUT with diabetes.
SY Congenital anomalies of the kidney and urinary tract with diabetes.
SY Familial hypoplastic glomerulocystic kidney.
SY Glomerulocystic kidney disease hypoplastic type.
SY Maturity-onset diabetes of the young type 5.
SY MODY5.
SY Renal-diabetes MODY5 syndrome.
SY Tubulointerstitial kidney disease, autosomal dominant, 3.
DR MIM; 137920; phenotype.
DR MedGen; C0431693.
DR MeSH; D003924.
KW KW-0219:Diabetes mellitus.
//
ID Renal dysplasia, cystic.
AC DI-03361
AR CYSRD.
DE An anomaly of the kidney characterized by numerous renal cysts and
DE apparent disorder of differentiation of the renal parenchyma. Kidney
DE of affected individuals lack the normal renal bean shape, and the
DE collection drainage system. The cystic, dysplastic kidney contains
DE undifferentiated mesenchyme, cartilaginous tissue, and immature
DE collecting ducts.
DR MIM; 601331; phenotype.
DR MedGen; C1832471.
DR MedGen; C3275898.
DR MeSH; D021782.
//
ID Renal glucosuria.
AC DI-02255
AR GLYS.
DE A disorder characterized by persistent isolated glucosuria, normal
DE fasting serum glucose concentration, decreased renal tubular
DE resorption of glucose from the urine, and absence of any other signs
DE of tubular dysfunction.
SY Glucosuria, renal.
SY GLYS1.
DR MIM; 233100; phenotype.
DR MedGen; C0017980.
DR MeSH; D006030.
//
ID Renal hypodysplasia/aplasia 1.
AC DI-02253
AR RHDA1.
DE A perinatally lethal renal disease encompassing a spectrum of kidney
DE development defects, including renal agenesis, bilateral renal
DE aplasia, hypoplasia, (cystic) dysplasia, and severe obstructive
DE uropathy.
SY Renal adysplasia.
SY Renal agenesis.
SY Renal aplasia.
DR MIM; 191830; phenotype.
DR MedGen; C1609433.
DR MedGen; C1619700.
//
ID Renal hypodysplasia/aplasia 2.
AC DI-04110
AR RHDA2.
DE A perinatally lethal renal disease encompassing a spectrum of kidney
DE development defects, including renal agenesis, bilateral renal
DE aplasia, hypoplasia, (cystic) dysplasia, and severe obstructive
DE uropathy.
DR MIM; 615721; phenotype.
DR MedGen; C3810359.
DR MedGen; CN185872.
DR MeSH; D007674.
//
ID Renal hypodysplasia/aplasia 3.
AC DI-05149
AR RHDA3.
DE A severe, autosomal dominant disease encompassing a spectrum of kidney
DE development defects. Clinical manifestations are highly variable and
DE include bilateral or unilateral renal agenesis, renal aplasia,
DE hypoplasia, (cystic) dysplasia, severe obstructive uropathy, and
DE vesicoureteral reflux. Bilateral renal agenesis is almost invariably
DE fatal in utero or in the perinatal period. Unilateral renal agenesis
DE can lead to future health issues including end-stage renal disease.
DR MIM; 617805; phenotype.
DR MedGen; CN703737.
DR MeSH; D007674.
//
ID Renal tubular acidosis, distal, 1.
AC DI-01207
AR DRTA1.
DE An autosomal dominant disease characterized by reduced ability to
DE acidify urine, variable hyperchloremic hypokalemic metabolic acidosis,
DE nephrocalcinosis, and nephrolithiasis. It is due to functional failure
DE of alpha-intercalated cells of the cortical collecting duct of the
DE distal nephron, where vectorial proton transport is required for
DE urinary acidification.
SY Autosomal dominant RTA distal type.
SY Renal tubular acidosis I.
SY RTA classic type.
SY RTA gradient type.
DR MIM; 179800; phenotype.
DR MedGen; C0259810.
DR MedGen; C2931885.
DR MeSH; D000141.
//
ID Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss.
AC DI-01495
AR DRTA2.
DE An autosomal recessive disease characterized by the association of
DE renal distal tubular acidosis with sensorineural hearing loss. Distal
DE renal tubular acidosis is characterized by reduced ability to acidify
DE urine, variable hyperchloremic hypokalemic metabolic acidosis,
DE nephrocalcinosis, and nephrolithiasis. It is due to functional failure
DE of alpha-intercalated cells of the cortical collecting duct of the
DE distal nephron, where vectorial proton transport is required for
DE urinary acidification.
SY Autosomal recessive renal tubular acidosis with progressive nerve deafness.
SY Distal renal tubular acidosis with deafness.
SY Renal tubular acidosis with progressive nerve deafness.
SY RTA with progressive nerve deafness.
DR MIM; 267300; phenotype.
DR MedGen; C0403554.
DR MeSH; D000141.
DR MeSH; D006319.
KW KW-0209:Deafness.
//
ID Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss.
AC DI-01496
AR DRTA3.
DE An autosomal recessive disease characterized by reduced ability to
DE acidify urine, variable hyperchloremic hypokalemic metabolic acidosis,
DE nephrocalcinosis, and nephrolithiasis. It is due to functional failure
DE of alpha-intercalated cells of the cortical collecting duct of the
DE distal nephron, where vectorial proton transport is required for
DE urinary acidification.
SY Autosomal recessive distal RTA.
SY Distal renal tubular acidosis with late-onset sensorineural hearing loss.
SY Distal renal tubular acidosis with preserved hearing.
DR MIM; 602722; phenotype.
DR MedGen; C1864498.
DR MedGen; C1864499.
DR MeSH; D000141.
//
ID Renal tubular acidosis, distal, 4, with hemolytic anemia.
AC DI-01237
AR DRTA4.
DE An autosomal recessive disease characterized by the association of
DE hemolytic anemia with distal renal tubular acidosis, the reduced
DE ability to acidify urine resulting in variable hyperchloremic
DE hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis.
SY Autosomal recessive distal RTA with hemolytic anemia.
DR MIM; 611590; phenotype.
DR MedGen; C1969038.
DR MeSH; D000141.
//
ID Renal tubular acidosis, distal, with normal red cell morphology.
AC DI-03438
AR dRTA-NRC.
DE A disease characterized by reduced ability to acidify urine, variable
DE hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and
DE nephrolithiasis. It is due to functional failure of alpha-intercalated
DE cells of the cortical collecting duct of the distal nephron, where
DE vectorial proton transport is required for urinary acidification.
DR MIM; 611590; phenotype.
DR MedGen; C1969039.
DR MeSH; D000141.
//
ID Renal tubular acidosis, proximal, with ocular abnormalities and intellectual disability.
AC DI-02226
AR pRTA-OA.
DE An extremely rare autosomal recessive syndrome characterized by short
DE stature, profound proximal renal tubular acidosis, intellectual
DE disability, bilateral glaucoma, cataracts and bandkeratopathy. pRTA is
DE due to a failure of the proximal tubular cells to reabsorb filtered
DE bicarbonate from the urine, leading to urinary bicarbonate wasting and
DE subsequent acidemia.
SY Autosomal recessive proximal RTA.
SY Proximal renal tubular acidosis with ocular abnormalities.
DR MIM; 604278; phenotype.
DR MedGen; C1970309.
DR MeSH; D000141.
//
ID Renal tubular dysgenesis.
AC DI-02257
AR RTD.
DE Autosomal recessive severe disorder of renal tubular development
DE characterized by persistent fetal anuria and perinatal death, probably
DE due to pulmonary hypoplasia from early-onset oligohydramnios (the
DE Potter phenotype).
DR MIM; 267430; phenotype.
DR MedGen; C0266313.
DR MedGen; C2678367.
//
ID Renal-hepatic-pancreatic dysplasia 1.
AC DI-02259
AR RHPD1.
DE A disease characterized by cystic malformations of the kidneys, liver,
DE and pancreas. The pathological findings consist of multicystic
DE dysplastic kidneys, dilated and dysgenetic bile ducts, a dysplastic
DE pancreas with dilated ducts, cysts, fibrosis and inflammatory
DE infiltrates.
SY RHPD.
DR MIM; 208540; phenotype.
DR MedGen; C2673883.
DR MeSH; D000015.
//
ID Renal-hepatic-pancreatic dysplasia 2.
AC DI-03891
AR RHPD2.
DE A form of renal-hepatic-pancreatic dysplasia, a disease characterized
DE by cystic malformations of the kidneys, liver, and pancreas. The
DE pathological findings consist of multicystic dysplastic kidneys,
DE dilated and dysgenetic bile ducts, a dysplastic pancreas with dilated
DE ducts, cysts, fibrosis and inflammatory infiltrates.
DR MIM; 615415; phenotype.
DR MedGen; C3809434.
DR MedGen; CN180049.
DR MeSH; D000015.
//
ID Renpenning syndrome 1.
AC DI-02260
AR RENS1.
DE An X-linked syndrome characterized by intellectual disability,
DE microcephaly, short stature, and small testes. The craniofacies tends
DE to be narrow and tall with upslanting palpebral fissures, abnormal
DE nasal configuration, cupped ears, and short philtrum. The nose may
DE appear long or bulbous, with overhanging columella. Less consistent
DE manifestations include ocular colobomas, cardiac malformations, cleft
DE palate, and anal anomalies.
SY Golabi-Ito-Hall syndrome.
SY MRX55.
SY MRXS3.
SY MRXS8.
SY SHS.
DR MIM; 309500; phenotype.
DR MedGen; C0796135.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Respiratory distress syndrome in premature infants.
AC DI-02716
AR RDS.
DE A lung disease affecting usually premature newborn infants. It is
DE characterized by deficient gas exchange, diffuse atelectasis, high-
DE permeability lung edema and fibrin-rich alveolar deposits called
DE 'hyaline membranes'.
SY Hyaline membrane disease.
SY RDS in prematurity.
DR MIM; 267450; phenotype.
DR MedGen; C1968593.
DR MeSH; D006819.
//
ID Respiratory papillomatosis, juvenile recurrent, congenital.
AC DI-05784
AR JRRP.
DE An autosomal recessive disease characterized by recurrent growth of
DE papillomas in the respiratory tract, and onset in early childhood.
DE Papillomas are most commonly found in the larynx but may occur
DE anywhere from the mouth to the bronchi. Children typically present
DE within the first years of life with hoarseness or, in more severe
DE cases, respiratory distress or stridor and airway obstruction. JRRP is
DE associated with infection of the upper airway by human
DE papillomaviruses of the alpha genus. The infection is thought to occur
DE by vertical transmission at birth.
DR MIM; 618803; phenotype.
DR MedGen; CN263365.
DR MeSH; D012141.
DR MeSH; D030361.
//
ID Restless legs syndrome 6.
AC DI-02843
AR RLS6.
DE A neurologic sleep/wake disorder characterized by uncomfortable and
DE unpleasant sensations in the legs that appear at rest, usually at
DE night, inducing an irresistible desire to move the legs. The disorder
DE results in nocturnal insomnia and chronic sleep deprivation. The
DE majority of patients also have periodic limb movements in sleep, which
DE are characterized by involuntary, highly stereotypical, regularly
DE occurring limb movements that occur during sleep.
DR MIM; 611185; phenotype.
DR MedGen; C1970020.
DR MeSH; D012148.
//
ID Restless legs syndrome 7.
AC DI-02589
AR RLS7.
DE A neurologic sleep/wake disorder characterized by uncomfortable and
DE unpleasant sensations in the legs that appear at rest, usually at
DE night, inducing an irresistible desire to move the legs. The disorder
DE results in nocturnal insomnia and chronic sleep deprivation. The
DE majority of patients also have periodic limb movements in sleep, which
DE are characterized by involuntary, highly stereotypical, regularly
DE occurring limb movements that occur during sleep.
DR MIM; 612853; phenotype.
DR MedGen; C2748506.
DR MeSH; D012148.
//
ID Restrictive dermopathy 2.
AC DI-06366
AR RSDM2.
DE An autosomal dominant form of restrictive dermopathy, a genodermatosis
DE mainly characterized by intrauterine growth retardation, tight and
DE rigid skin with erosions, prominent superficial vasculature and
DE epidermal hyperkeratosis, facial dysmorphism, sparse/absent eyelashes
DE and eyebrows, mineralization defects of the skull, thin dysplastic
DE clavicles, pulmonary hypoplasia, multiple joint contractures and an
DE early neonatal lethal course. Liveborn children usually die within the
DE first week of life.
SY Restrictive dermopathy 2 , lethal.
DR MIM; 619793; phenotype.
DR MedGen; CN307038.
DR MeSH; D012868.
//
ID Reticular dysgenesis.
AC DI-02261
AR RDYS.
DE A fatal form of severe combined immunodeficiency, characterized by
DE absence of granulocytes, almost complete deficiency of lymphocytes in
DE peripheral blood, hypoplasia of the thymus and secondary lymphoid
DE organs, and lack of innate and adaptive humoral and cellular immunity,
DE leading to fatal septicemia within days after birth. In bone marrow of
DE individuals with reticular dysgenesis, myeloid differentiation is
DE blocked at the promyelocytic stage, whereas erythro- and
DE megakaryocytic maturation is generally normal. Inheritance is
DE autosomal recessive.
SY Aleukocytosis.
SY Congenital aleukia.
SY De Vaal disease.
SY Hematopoietic hypoplasia, generalized.
SY Severe combined immunodeficiency with leukopenia.
DR MIM; 267500; phenotype.
DR MedGen; C0272167.
DR MeSH; D016511.
KW KW-0705:SCID.
//
ID Reticulate acropigmentation of Kitamura.
AC DI-03962
AR RAK.
DE A rare cutaneous pigmentation disorder characterized by reticulate,
DE slightly depressed, sharply demarcated brown macules without
DE hypopigmentation, affecting the dorsa of the hands and feet and
DE appearing in the first or second decade of life. The macules gradually
DE darken and extend to the proximal regions of the extremities. The
DE manifestations tend to progress until middle age, after which
DE progression of the eruptions stops. The pigmentary augmentation is
DE found on the flexor aspects of the wrists, neck, patella and
DE olecranon. Other features include breaks in the epidermal ridges on
DE the palms and fingers, palmoplantar pits, occasionally plantar
DE keratoderma, and partial alopecia.
SY Acropigmentatio reticularis.
SY Kitamura reticulate acropigmentation.
SY Reticulate pigmentation of Kitamura.
SY RPK.
DR MIM; 615537; phenotype.
DR MeSH; D010859.
//
ID Retinal arterial macroaneurysm with supravalvular pulmonic stenosis.
AC DI-03265
AR RAMSVPS.
DE An autosomal recessive condition characterized by the bilateral
DE appearance of 'beading' along the major retinal arterial trunks, with
DE the subsequent formation of macroaneurysms. Affected individuals also
DE have supravalvular pulmonic stenosis, often requiring surgical
DE correction.
DR MIM; 614224; phenotype.
DR MedGen; C3280205.
DR MeSH; D000783.
DR MeSH; D011666.
DR MeSH; D012164.
//
ID Retinal cone dystrophy 4.
AC DI-02262
AR RCD4.
DE Characterized by minimal symptoms except for slowly progressive
DE reduction in visual acuity.
DR MIM; 610478; phenotype.
DR MedGen; C1864849.
//
ID Retinal degeneration autosomal recessive clumped pigment type.
AC DI-03088
AR RDCP.
DE A retinopathy characterized by night blindness since early childhood,
DE consistent with a severe reduction in rod function. Color vision is
DE normal although there is a relatively enhanced function of short-
DE wavelength-sensitive cones in the macula. Signs of retinal
DE degeneration and clusters of clumped pigment deposits in the
DE peripheral fundus at the level of the retinal pigment epithelium are
DE present.
SY Clumped pigmentary retinal degeneration.
DR MIM; 613750; phenotype.
DR MedGen; C1834330.
DR MeSH; D012162.
//
ID Retinal dystrophy and microvillus inclusion disease.
AC DI-06172
AR RDMVID.
DE An autosomal recessive disease characterized by early-onset, severe
DE retinal dystrophy associated with intractable congenital diarrhea.
DE Intestinal biopsies show loss of microvilli, microvillus inclusions,
DE and accumulation of subapical vesicles in villus enterocytes.
DR MIM; 619446; phenotype.
DR MedGen; CN300063.
DR MeSH; D003968.
DR MeSH; D008286.
DR MeSH; D058499.
//
ID Retinal dystrophy and obesity.
AC DI-04298
AR RDOB.
DE A disease characterized by obesity, night blindness, decreased visual
DE acuity, and electrophysiological features of a rod cone dystrophy.
DR MIM; 616188; phenotype.
DR MedGen; CN225049.
DR MeSH; D009765.
DR MeSH; D058499.
KW KW-0550:Obesity.
//
ID Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities.
AC DI-04272
AR RDGCA.
DE An autosomal dominant retinal dystrophy characterized by inner retinal
DE dysfunction in association with ganglion cell abnormalities. Clinical
DE features include mild photophobia, progressive loss of central vision,
DE night blindness, and hyperreflectivity of nerve and ganglion cell
DE layers.
DR MIM; 616079; phenotype.
DR MedGen; CN221090.
DR MeSH; D058499.
//
ID Retinal dystrophy with leukodystrophy.
AC DI-05818
AR RDLKD.
DE An autosomal recessive disorder characterized by progressive
DE leukodystrophy associated with developmental delay, spastic
DE paraparesis, ataxia, and retinal dystrophy. Patients may show facial
DE dysmorphism. Laboratory investigations reveal an abnormal profile of
DE very-long chain fatty acid in plasma.
DR MIM; 618863; phenotype.
DR MedGen; CN280859.
DR MeSH; D020279.
DR MeSH; D058499.
KW KW-1026:Leukodystrophy.
//
ID Retinal dystrophy with or without extraocular anomalies.
AC DI-04885
AR RDEOA.
DE An autosomal recessive disease characterized by progressive retinal
DE dystrophy, chorioretinal macular atrophy, reduced cone and rod
DE responses on ERG, and decrease visual acuity. Extraocular anomalies
DE are variably present in some patients and include pulmonary fibrosis,
DE sensorineural hearing loss, and endocrine features such as goiter and
DE primary ovarian insufficiency.
DR MIM; 617175; phenotype.
DR MedGen; CN238856.
DR MeSH; D058499.
//
ID Retinal dystrophy with or without macular staphyloma.
AC DI-05024
AR RDMS.
DE An ocular disorder characterized by decreased vision which worsen over
DE time, and dystrophic changes in the retina, such as retinal pigment
DE epithelium mottling and vessel narrowing. Macular staphyloma, without
DE high myopia, is present in some patients.
DR MIM; 617547; phenotype.
DR MedGen; CN270122.
DR MeSH; D058499.
KW KW-1186:Ciliopathy.
//
ID Retinal dystrophy, early-onset, with or without pituitary dysfunction.
AC DI-04439
AR RDEOP.
DE An autosomal dominant ocular disease characterized by pattern
DE dystrophy of the retinal pigment epithelium, and photoreceptor
DE degeneration. Mild developmental anomalies include optic nerve head
DE dysplasia, microcornea, and Rathke's cleft cyst. Some patients
DE manifest pituitary dysfunction.
DR MIM; 610125; phenotype.
DR MedGen; C3149814.
DR MeSH; D058499.
//
ID Retinal dystrophy, iris coloboma, and comedogenic acne syndrome.
AC DI-02265
AR RDCCAS.
DE A disease characterized by retinal degeneration, ocular colobomas
DE involving both the anterior and posterior segment, impaired night
DE vision and loss of visual acuity. Additional characteristic features
DE include developmental abnormalities and severe acne.
DR MIM; 615147; phenotype.
DR MedGen; C3554593.
DR MedGen; CN168288.
DR MeSH; D000152.
DR MeSH; D003103.
DR MeSH; D058499.
//
ID Retinal dystrophy, juvenile cataracts, and short stature syndrome.
AC DI-04303
AR RDJCSS.
DE A disorder characterized by retinal dystrophy resulting in progressive
DE decrease in visual acuity and difficulties with night vision in the
DE first decade of life, development of juvenile cataracts, facial
DE dysmorphism, psychomotor developmental delays, learning disabilities
DE and short stature. Ophthalmological findings include salt-and-pepper
DE retinopathy, attenuation of the arterioles, generalized rod-cone
DE dysfunction, mottled macula at an early age, and peripapillary sparing
DE of the retinal pigment epithelium.
DR MIM; 616108; phenotype.
DR MedGen; CN221538.
DR MeSH; D002386.
DR MeSH; D004392.
DR MeSH; D058499.
KW KW-0242:Dwarfism.
KW KW-0898:Cataract.
//
ID Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome.
AC DI-05949
AR ROSAH.
DE An autosomal dominant disorder characterized by decreased vision
DE associated with optic nerve edema, evident in childhood. Low-grade
DE ocular inflammation is common in affected individuals. Later in
DE childhood or the second decade of life, patients have increasing
DE visual impairment, abnormal cone function and loss of rod function. By
DE the third decade of life, visual acuity ranges from counting fingers
DE to no light perception. Patients also show anhidrosis, splenomegaly,
DE mild pancytopenia, and most experience headaches that may be migraine-
DE like in nature.
SY Splenomegaly, cytopenia, and vision loss.
DR MIM; 614979; phenotype.
DR MedGen; C3554278.
DR MeSH; D007007.
DR MeSH; D013163.
DR MeSH; D058499.
//
ID Retinal macular dystrophy 2.
AC DI-00968
AR MCDR2.
DE A bull's-eye macular dystrophy characterized by bilateral annular
DE atrophy of retinal pigment epithelium at the macula.
DR MIM; 608051; phenotype.
DR MedGen; C0339512.
DR MeSH; D008268.
//
ID Retinitis pigmentosa.
AC DI-00969
AR RP.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
SY Non-syndromic retinitis pigmentosa.
SY RCD.
SY Rod-cone dystrophy.
DR MIM; 268000; phenotype.
DR MedGen; C0035334.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 1.
AC DI-00971
AR RP1.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 180100; phenotype.
DR MedGen; C0220701.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 10.
AC DI-00977
AR RP10.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 180105; phenotype.
DR MedGen; C1867299.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 11.
AC DI-00978
AR RP11.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 600138; phenotype.
DR MedGen; C1838601.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 12.
AC DI-00979
AR RP12.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well. RP12 is an autosomal recessive, severe form often manifesting in
DE early childhood. Patients experiment progressive visual field loss
DE with severe visual impairment before the age of twenty. Some patients
DE have a preserved paraarteriolar retinal pigment epithelium (PPRPE) and
DE hypermetropia.
SY Retinitis pigmentosa with or without paraarteriolar preservation of retinal pigment epithelium.
SY RP with or without PPRPE.
SY RP with or without preserved paraarteriole retinal pigment epithelium.
DR MIM; 600105; phenotype.
DR MedGen; C1838647.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 13.
AC DI-00980
AR RP13.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 600059; phenotype.
DR MedGen; C1838702.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 14.
AC DI-00981
AR RP14.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
SY Retinitis pigmentosa juvenile TULP1-related.
DR MIM; 600132; phenotype.
DR MedGen; C1838603.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 17.
AC DI-00983
AR RP17.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 600852; phenotype.
DR MedGen; C1833245.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 18.
AC DI-00984
AR RP18.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 601414; phenotype.
DR MedGen; C1832378.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 19.
AC DI-00985
AR RP19.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well. RP19 is characterized by choroidal atrophy.
DR MIM; 601718; phenotype.
DR MedGen; C1866422.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 2.
AC DI-00972
AR RP2.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
SY X-linked retinitis pigmentosa 2.
SY XLRP2.
SY XLRP-2.
DR MIM; 312600; phenotype.
DR MedGen; C2681923.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 20.
AC DI-00986
AR RP20.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 613794; phenotype.
DR MedGen; C3151086.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 23.
AC DI-04060
AR RP23.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 300424; phenotype.
DR MedGen; C1845542.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 25.
AC DI-00987
AR RP25.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 602772; phenotype.
DR MedGen; C1864446.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 26.
AC DI-00988
AR RP26.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 608380; phenotype.
DR MedGen; C1842127.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 27.
AC DI-00989
AR RP27.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 613750; phenotype.
DR MedGen; C1834329.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 28.
AC DI-02911
AR RP28.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 606068; phenotype.
DR MedGen; C1853734.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
KW KW-1186:Ciliopathy.
//
ID Retinitis pigmentosa 3.
AC DI-00973
AR RP3.
DE An X-linked retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well. In RP3, affected males have a severe phenotype, and carrier
DE females show a wide spectrum of clinical features ranging from
DE completely asymptomatic to severe retinitis pigmentosa. Heterozygous
DE women can manifest a form of choroidoretinal degeneration which is
DE distinguished from other types by the absence of visual defects in the
DE presence of a brilliant, scintillating, golden-hued, patchy appearance
DE most striking around the macula, called a tapetal-like retinal reflex.
SY Choroidoretinal degeneration with retinal reflex in heterozygous women.
SY Retinitis pigmentosa 15.
SY Retinitis pigmentosa type 15.
SY RP15.
SY X-linked cone-rod degeneration.
SY X-linked retinitis pigmentosa 3.
SY XLRP3.
SY XLRP-3.
DR MIM; 300029; phenotype.
DR MedGen; C1845667.
DR MedGen; C1848295.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 30.
AC DI-00990
AR RP30.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 607921; phenotype.
DR MedGen; C1842816.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 31.
AC DI-00991
AR RP31.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 609923; phenotype.
DR MedGen; C1835923.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 32.
AC DI-05880
AR RP32.
DE A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE group of pigmentary retinopathies. Retinitis pigmentosa is
DE characterized by retinal pigment deposits visible on fundus
DE examination and primary loss of rod photoreceptor cells followed by
DE secondary loss of cone photoreceptors. Patients typically have night
DE vision blindness and loss of midperipheral visual field. RP32
DE inheritance is autosomal recessive.
DR MIM; 609913; phenotype.
DR MedGen; C1835927.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 33.
AC DI-02672
AR RP33.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 610359; phenotype.
DR MedGen; C1835895.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 35.
AC DI-00992
AR RP35.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 610282; phenotype.
DR MedGen; C1853214.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 36.
AC DI-02263
AR RP36.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 610599; phenotype.
DR MedGen; C1864621.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 37.
AC DI-00993
AR RP37.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 611131; phenotype.
DR MedGen; C1970163.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 38.
AC DI-03030
AR RP38.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 613862; phenotype.
DR MedGen; C3151228.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 39.
AC DI-00994
AR RP39.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 613809; phenotype.
DR MedGen; C3151138.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 4.
AC DI-00974
AR RP4.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 613731; phenotype.
DR MedGen; C3151001.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 40.
AC DI-03031
AR RP40.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 613801; phenotype.
DR MedGen; C3151107.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 41.
AC DI-00995
AR RP41.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
SY Retinal degeneration autosomal recessive prominin-related.
DR MIM; 612095; phenotype.
DR MedGen; C2677516.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 42.
AC DI-02473
AR RP42.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 612943; phenotype.
DR MedGen; C2751986.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 43.
AC DI-03032
AR RP43.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 613810; phenotype.
DR MedGen; C3151139.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 44.
AC DI-03033
AR RP44.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 613769; phenotype.
DR MedGen; C3151068.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 45.
AC DI-02264
AR RP45.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 613767; phenotype.
DR MedGen; C3151066.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 46.
AC DI-00996
AR RP46.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
SY Retinitis pigmentosa autosomal recessive IDH3B-related.
DR MIM; 612572; phenotype.
DR MedGen; C2675496.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 47.
AC DI-03034
AR RP47.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 613758; phenotype.
DR MedGen; C3151061.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 48.
AC DI-03035
AR RP48.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 613827; phenotype.
DR MedGen; C3151190.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 49.
AC DI-03002
AR RP49.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 613756; phenotype.
DR MedGen; C3151059.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 50.
AC DI-01386
AR RP50.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
SY Retinitis pigmentosa concentric.
DR MIM; 613194; phenotype.
DR MedGen; C2750788.
DR MedGen; C2750789.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 51.
AC DI-02707
AR RP51.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 613464; phenotype.
DR MedGen; C3150715.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
KW KW-1186:Ciliopathy.
//
ID Retinitis pigmentosa 53.
AC DI-02918
AR RP53.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well. RP53 inheritance is autosomal dominant or autosomal recessive.
DR MIM; 612712; phenotype.
DR MedGen; C3150208.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 54.
AC DI-02708
AR RP54.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 613428; phenotype.
DR MedGen; C3150691.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
KW KW-1186:Ciliopathy.
//
ID Retinitis pigmentosa 55.
AC DI-02896
AR RP55.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 613575; phenotype.
DR MedGen; C3150808.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
KW KW-1186:Ciliopathy.
//
ID Retinitis pigmentosa 56.
AC DI-02907
AR RP56.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 613581; phenotype.
DR MedGen; C3150819.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 57.
AC DI-02908
AR RP57.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 613582; phenotype.
DR MedGen; C3150821.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 58.
AC DI-02909
AR RP58.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 613617; phenotype.
DR MedGen; C3150879.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 59.
AC DI-03036
AR RP59.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 613861; phenotype.
DR MedGen; C3151227.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 60.
AC DI-03116
AR RP60.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 613983; phenotype.
DR MedGen; C3151434.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 61.
AC DI-03234
AR RP61.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 614180; phenotype.
DR MedGen; C3280041.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 62.
AC DI-03235
AR RP62.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 614181; phenotype.
DR MedGen; C3280042.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 64.
AC DI-03356
AR RP64.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 614500; phenotype.
DR MedGen; C3281046.
DR MedGen; CN121949.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 66.
AC DI-03727
AR RP66.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 615233; phenotype.
DR MedGen; C3715216.
DR MedGen; CN169677.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 67.
AC DI-03990
AR RP67.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 615565; phenotype.
DR MedGen; C3809954.
DR MedGen; CN182503.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 68.
AC DI-04064
AR RP68.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 615725; phenotype.
DR MedGen; C3810380.
DR MedGen; CN185699.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 69.
AC DI-04068
AR RP69.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 615780; phenotype.
DR MedGen; CN187047.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 7.
AC DI-00975
AR RP7.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
SY Retinitis pigmentosa 7 digenic.
DR MIM; 608133; phenotype.
DR MedGen; C1842475.
DR MedGen; C2675552.
DR MedGen; C2675553.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 70.
AC DI-04177
AR RP70.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 615922; phenotype.
DR MedGen; CN207510.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 71.
AC DI-04435
AR RP71.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 616394; phenotype.
DR MedGen; CN230762.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 72.
AC DI-04485
AR RP72.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 616469; phenotype.
DR MedGen; CN231688.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 73.
AC DI-04519
AR RP73.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 616544; phenotype.
DR MedGen; CN232556.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 74.
AC DI-04520
AR RP74.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 616562; phenotype.
DR MedGen; CN232915.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 75.
AC DI-04756
AR RP75.
DE A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE group of pigmentary retinopathies. Retinitis pigmentosa is
DE characterized by retinal pigment deposits visible on fundus
DE examination and primary loss of rod photoreceptor cells followed by
DE secondary loss of cone photoreceptors. Patients typically have night
DE vision blindness and loss of midperipheral visual field. As their
DE condition progresses, they lose their far peripheral visual field and
DE eventually central vision as well. RP75 inheritance is autosomal
DE recessive.
DR MIM; 617023; phenotype.
DR MedGen; CN237174.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 76.
AC DI-04824
AR RP76.
DE A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE group of pigmentary retinopathies. Retinitis pigmentosa is
DE characterized by retinal pigment deposits visible on fundus
DE examination and primary loss of rod photoreceptor cells followed by
DE secondary loss of cone photoreceptors. Patients typically have night
DE vision blindness and loss of midperipheral visual field. As their
DE condition progresses, they lose their far peripheral visual field and
DE eventually central vision as well. RP76 inheritance is autosomal
DE recessive.
DR MIM; 617123; phenotype.
DR MedGen; CN238501.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 77.
AC DI-04926
AR RP77.
DE A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE group of pigmentary retinopathies. Retinitis pigmentosa is
DE characterized by retinal pigment deposits visible on fundus
DE examination and primary loss of rod photoreceptor cells followed by
DE secondary loss of cone photoreceptors. Patients typically have night
DE vision blindness and loss of midperipheral visual field. As their
DE condition progresses, they lose their far peripheral visual field and
DE eventually central vision as well. RP77 inheritance is autosomal
DE recessive.
DR MIM; 617304; phenotype.
DR MedGen; CN239959.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 78.
AC DI-04985
AR RP78.
DE A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE group of pigmentary retinopathies. Retinitis pigmentosa is
DE characterized by retinal pigment deposits visible on fundus
DE examination and primary loss of rod photoreceptor cells followed by
DE secondary loss of cone photoreceptors. Patients typically have night
DE vision blindness and loss of midperipheral visual field. As their
DE condition progresses, they lose their far peripheral visual field and
DE eventually central vision as well. RP78 inheritance is autosomal
DE recessive.
DR MIM; 617433; phenotype.
DR MedGen; CN241844.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 79.
AC DI-04983
AR RP79.
DE A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE group of pigmentary retinopathies. Retinitis pigmentosa is
DE characterized by retinal pigment deposits visible on fundus
DE examination and primary loss of rod photoreceptor cells followed by
DE secondary loss of cone photoreceptors. Patients typically have night
DE vision blindness and loss of midperipheral visual field. As their
DE condition progresses, they lose their far peripheral visual field and
DE eventually central vision as well. RP79 inheritance is autosomal
DE dominant.
DR MIM; 617460; phenotype.
DR MedGen; CN242289.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 80.
AC DI-05130
AR RP80.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well. RP80 inheritance is autosomal recessive.
DR MIM; 617781; phenotype.
DR MedGen; CN638473.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 81.
AC DI-05187
AR RP81.
DE A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE group of pigmentary retinopathies. Retinitis pigmentosa is
DE characterized by retinal pigment deposits visible on fundus
DE examination and primary loss of rod photoreceptor cells followed by
DE secondary loss of cone photoreceptors. Patients typically have night
DE vision blindness and loss of midperipheral visual field. As their
DE condition progresses, they lose their far peripheral visual field and
DE eventually central vision as well. RP81 inheritance is autosomal
DE recessive.
DR MIM; 617871; phenotype.
DR MedGen; CN802781.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 82 with or without situs inversus.
AC DI-03887
AR RP82.
DE An autosomal recessive disorder characterized by variable association
DE of retinitis pigmentosa with situs inversus. Retinitis pigmentosa is
DE characterized by retinal pigment deposits visible on fundus
DE examination and primary loss of rod photoreceptor cells followed by
DE secondary loss of cone photoreceptors. Patients typically have night
DE vision blindness and loss of midperipheral visual field. As their
DE condition progresses, they lose their far peripheral visual field and
DE eventually central vision as well. Situs inversus is a congenital
DE abnormality in which organs in the thorax and the abdomen are opposite
DE to their normal positions due to lateral transposition.
DR MIM; 615434; phenotype.
DR MedGen; C3809503.
DR MedGen; CN180162.
DR MeSH; D012174.
DR MeSH; D012857.
KW KW-1186:Ciliopathy.
//
ID Retinitis pigmentosa 83.
AC DI-05372
AR RP83.
DE An autosomal dominant form of retinitis pigmentosa, a retinal
DE dystrophy belonging to the group of pigmentary retinopathies.
DE Retinitis pigmentosa is characterized by retinal pigment deposits
DE visible on fundus examination and primary loss of rod photoreceptor
DE cells followed by secondary loss of cone photoreceptors. Patients
DE typically have night vision blindness and loss of midperipheral visual
DE field. As their condition progresses, they lose their far peripheral
DE visual field and eventually central vision as well.
DR MIM; 618173; phenotype.
DR MedGen; CN257758.
DR MeSH; D012174.
//
ID Retinitis pigmentosa 84.
AC DI-05397
AR RP84.
DE A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE group of pigmentary retinopathies. Retinitis pigmentosa is
DE characterized by retinal pigment deposits visible on fundus
DE examination and primary loss of rod photoreceptor cells followed by
DE secondary loss of cone photoreceptors. Patients typically have night
DE vision blindness and loss of midperipheral visual field. As their
DE condition progresses, they lose their far peripheral visual field and
DE eventually central vision as well. RP84 is an autosomal recessive,
DE early onset form characterized by night blindness by age 4 and
DE complete blindness by age 8. Funduscopy shows severely attenuated
DE retinal vessels, severe macular atrophy, and prominent and deep
DE macular colobomas lacking neuroretinal tissue.
DR MIM; 618220; phenotype.
DR MedGen; CN257494.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 85.
AC DI-05496
AR RP85.
DE A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE group of pigmentary retinopathies. Retinitis pigmentosa is
DE characterized by retinal pigment deposits visible on fundus
DE examination and primary loss of rod photoreceptor cells followed by
DE secondary loss of cone photoreceptors. Patients typically have night
DE vision blindness and loss of midperipheral visual field. As their
DE condition progresses, they lose their far peripheral visual field and
DE eventually central vision as well. RP85 is an autosomal recessive form
DE manifesting as early-onset progressive difficulty to adapt in dim
DE light and gradually decreasing visual acuity in both eyes.
DR MIM; 618345; phenotype.
DR MedGen; CN258234.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 86.
AC DI-05674
AR RP86.
DE A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE group of pigmentary retinopathies. Retinitis pigmentosa is
DE characterized by retinal pigment deposits visible on fundus
DE examination and primary loss of rod photoreceptor cells followed by
DE secondary loss of cone photoreceptors. Patients typically have night
DE vision blindness and loss of midperipheral visual field. As their
DE condition progresses, they lose their far peripheral visual field and
DE eventually central vision as well. RP86 is an autosomal recessive
DE form.
DR MIM; 618613; phenotype.
DR MedGen; CN262376.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 87 with choroidal involvement.
AC DI-05716
AR RP87.
DE A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE group of pigmentary retinopathies. Retinitis pigmentosa is
DE characterized by retinal pigment deposits visible on fundus
DE examination and primary loss of rod photoreceptor cells followed by
DE secondary loss of cone photoreceptors. Patients typically have night
DE vision blindness and loss of midperipheral visual field. RP87 is an
DE autosomal dominant form characterized by a slowly progressive visual
DE disturbance accompanied by extensive choroid/retinal atrophy that
DE mimics certain aspects of choroideremia. Disease severity and age of
DE onset are variable, and some carriers are unaffected.
DR MIM; 618697; phenotype.
DR MedGen; CN276908.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 88.
AC DI-05776
AR RP88.
DE A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE group of pigmentary retinopathies. Retinitis pigmentosa is
DE characterized by retinal pigment deposits visible on fundus
DE examination and primary loss of rod photoreceptor cells followed by
DE secondary loss of cone photoreceptors. Patients typically have night
DE vision blindness and loss of midperipheral visual field. RP88 is an
DE autosomal recessive form.
DR MIM; 618826; phenotype.
DR MedGen; CN263396.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 89.
AC DI-05879
AR RP89.
DE A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE group of pigmentary retinopathies. Retinitis pigmentosa is
DE characterized by retinal pigment deposits visible on fundus
DE examination and primary loss of rod photoreceptor cells followed by
DE secondary loss of cone photoreceptors. Patients typically have night
DE vision blindness and loss of midperipheral visual field. RP89 is an
DE autosomal dominant form associated with features of ciliopathy,
DE including postaxial polydactyly, and renal and hepatic disease.
DR MIM; 618955; phenotype.
DR MedGen; CN283270.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
KW KW-1186:Ciliopathy.
//
ID Retinitis pigmentosa 9.
AC DI-00976
AR RP9.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
DR MIM; 180104; phenotype.
DR MedGen; C1867300.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 90.
AC DI-05910
AR RP90.
DE A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE group of pigmentary retinopathies. Retinitis pigmentosa is
DE characterized by retinal pigment deposits visible on fundus
DE examination and primary loss of rod photoreceptor cells followed by
DE secondary loss of cone photoreceptors. Patients typically have night
DE vision blindness and loss of midperipheral visual field. RP90 is an
DE autosomal recessive form.
DR MIM; 619007; phenotype.
DR MedGen; CN283346.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 91.
AC DI-06234
AR RP91.
DE A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE group of pigmentary retinopathies. Retinitis pigmentosa is
DE characterized by retinal pigment deposits visible on fundus
DE examination and primary loss of rod photoreceptor cells followed by
DE secondary loss of cone photoreceptors. Patients typically have night
DE vision blindness and loss of midperipheral visual field. RP91 is an
DE autosomal dominant form with bone-spicule pigmentation, attenuation of
DE retinal vessels, and optic disk pallor on funduscopy. Patients may
DE also experience early macular involvement, with photophobia and
DE reduced visual acuity, and some show a bull's eye pattern of macular
DE atrophy.
SY BCAMD.
SY Macular dystrophy, benign concentric annular.
SY Macular dystrophy, concentric annular.
SY MCDCA.
DR MIM; 153870; phenotype.
DR MedGen; C1828210.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa 92.
AC DI-06270
AR RP92.
DE A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE group of pigmentary retinopathies. Retinitis pigmentosa is
DE characterized by retinal pigment deposits visible on fundus
DE examination and primary loss of rod photoreceptor cells followed by
DE secondary loss of cone photoreceptors. Patients typically have night
DE vision blindness and loss of midperipheral visual field. RP92 is an
DE autosomal recessive, mild form with onset of night blindness and
DE vision loss in the third to sixth decades of life.
DR MIM; 619614; phenotype.
DR MedGen; CN301253.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa and erythrocytic microcytosis.
AC DI-04725
AR RPEM.
DE An autosomal recessive disease characterized by retinitis pigmentosa,
DE red blood cell microcytosis and anisocytosis with mild anemia.
DR MIM; 616959; phenotype.
DR MedGen; CN236716.
DR MeSH; D006402.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa and sinorespiratory infections with or without deafness.
AC DI-00997
AR RPDSI.
DE A disease characterized by the association primary ciliary dyskinesia
DE features with retinitis pigmentosa. Some patients also manifest
DE deafness.
SY X-linked retinitis pigmentosa with deafness and sinorespiratory infections.
DR MIM; 300455; phenotype.
DR MedGen; C2749137.
DR MeSH; D002925.
KW KW-1186:Ciliopathy.
//
ID Retinitis pigmentosa autosomal recessive.
AC DI-00970
AR ARRP.
DE A retinal dystrophy belonging to the group of pigmentary
DE retinopathies. Retinitis pigmentosa is characterized by retinal
DE pigment deposits visible on fundus examination and primary loss of rod
DE photoreceptor cells followed by secondary loss of cone photoreceptors.
DE Patients typically have night vision blindness and loss of
DE midperipheral visual field. As their condition progresses, they lose
DE their far peripheral visual field and eventually central vision as
DE well.
SY Non-syndromic retinitis pigmentosa.
DR MIM; 268000; phenotype.
DR MeSH; D012174.
KW KW-0682:Retinitis pigmentosa.
//
ID Retinitis pigmentosa with or without skeletal anomalies.
AC DI-05006
AR RPSKA.
DE An autosomal recessive disease characterized by retinal degeneration,
DE brachydactyly, short stature, craniofacial dysmorphism, and neurologic
DE defects. Retinal defects are consistent with retinitis pigmentosa in
DE most patients. Neurologic manifestations include mild-to-moderate
DE intellectual disability and psychomotor retardation.
SY Metaphyseal chondrodysplasia with retinitis pigmentosa.
DR MIM; 250410; phenotype.
DR MedGen; C1855188.
DR MeSH; D010009.
DR MeSH; D012174.
KW KW-0242:Dwarfism.
KW KW-0682:Retinitis pigmentosa.
KW KW-0991:Intellectual disability.
//
ID Retinitis punctata albescens.
AC DI-01639
AR RPA.
DE A form of fleck retina disease characterized by aggregation of white
DE flecks posteriorly in the retina, causing night blindness and delayed
DE dark adaptation. It differs from fundus albipunctatus in being
DE progressive and evolving to generalized atrophy of the retina.
DR MIM; 136880; phenotype.
DR MedGen; C1405854.
DR MeSH; D012164.
//
ID Retinoschisis juvenile X-linked 1.
AC DI-02450
AR XLRS1.
DE A vitreo-retinal dystrophy characterized by macular pathology and by
DE splitting of the superficial layer of the retina. Macular changes are
DE present in almost all cases. In the fundi, radially oriented
DE intraretinal foveomacular cysts are seen in a spoke-wheel
DE configuration, with the absence of foveal reflex in most cases. In
DE addition, approximately half of cases have bilateral peripheral
DE retinoschisis in the inferotemporal part of the retina. Aside from the
DE typical fundus appearance, strabismus, nystagmus, axial hyperopia,
DE defective color vision and foveal ectopy can be present. The most
DE important complications are vitreous hemorrhage, retinal detachment,
DE and neovascular glaucoma.
SY RS1.
DR MIM; 312700; phenotype.
DR MedGen; C0271091.
DR MedGen; C3714753.
DR MeSH; D041441.
//
ID Rett syndrome.
AC DI-00999
AR RTT.
DE An X-linked dominant neurodevelopmental disorder, and one of the most
DE common causes of intellectual disability in females. Patients appear
DE to develop normally until 6 to 18 months of age, then gradually lose
DE speech and purposeful hand movements, and develop microcephaly,
DE seizures, autism, ataxia, intellectual disability and stereotypic hand
DE movements. After initial regression, the condition stabilizes and
DE patients usually survive into adulthood.
SY Autism-dementia-ataxia-loss of purposeful hand use.
SY Rett disorder.
SY Rett syndrome preserved speech variant.
SY Rett syndrome Zappella variant.
SY RTS.
DR MIM; 312750; phenotype.
DR MedGen; C0035372.
DR MedGen; C1839332.
DR MedGen; C2677682.
DR MedGen; C2748910.
DR MeSH; D015518.
KW KW-0991:Intellectual disability.
KW KW-1268:Autism spectrum disorder.
//
ID Rett syndrome congenital variant.
AC DI-02790
AR RTTCV.
DE A severe neurodevelopmental disorder with features of classic Rett
DE syndrome but earlier onset in the first months of life. Clinical
DE features include progressive microcephaly, hypotonia, irresponsiveness
DE and irritability in the neonatal period, intellectual disability,
DE psychomotor regression and stereotypical movements.
DR MIM; 613454; phenotype.
DR MedGen; C3150705.
DR MeSH; D015518.
KW KW-0991:Intellectual disability.
//
ID Reynolds syndrome.
AC DI-02850
AR REYNS.
DE A syndrome specifically associating limited cutaneous systemic
DE sclerosis and primary biliary cirrhosis. It is characterized by liver
DE disease, telangiectasia, abrupt onset of digital paleness or cyanosis
DE in response to cold exposure or stress (Raynaud phenomenon), and
DE variable features of scleroderma. The liver disease is characterized
DE by pruritis, jaundice, hepatomegaly, increased serum alkaline
DE phosphatase and positive serum mitochondrial autoantibodies, all
DE consistent with primary biliary cirrhosis.
SY Primary biliary cirrhosis scleroderma Raynaud disease and telangiectasia.
DR MIM; 613471; phenotype.
DR MedGen; C0748397.
DR MeSH; D008105.
DR MeSH; D045745.
//
ID Rh-null, amorph type.
AC DI-05246
AR RHNA.
DE An autosomal recessive condition characterized by red blood cells that
DE lack all Rh antigens, have increased osmotic fragility, diminished
DE lifespan, and show changes in morphology resulting in stomatocytosis.
DE Rh-null individuals have mild to moderate hemolytic anemia. They are
DE at risk of having adverse reactions in response to transfusion or
DE pregnancy, because they may produce antibodies against several of the
DE Rh antigens.
SY Rh-null disease, amorph type.
SY Rh-null syndrome, amorph type.
DR MIM; 617970; phenotype.
DR MedGen; CN244925.
DR MeSH; D004899.
DR MeSH; D012204.
//
ID Rhabdoid tumor predisposition syndrome 1.
AC DI-02266
AR RTPS1.
DE A familial cancer syndrome predisposing to renal or extrarenal
DE malignant rhabdoid tumors and to a variety of tumors of the central
DE nervous system, including choroid plexus carcinoma, medulloblastoma,
DE and central primitive neuroectodermal tumors. Rhabdoid tumors are the
DE most aggressive and lethal malignancies occurring in early childhood.
SY Atypical teratoid tumor.
SY Malignant rhabdoid tumor somatic.
SY MRT.
SY RDT.
SY Rhabdoid tumor.
DR MIM; 609322; phenotype.
DR MedGen; C0206743.
DR MedGen; C1266184.
DR MedGen; C1836326.
DR MedGen; C1836327.
DR MedGen; C2750405.
DR MeSH; D018335.
//
ID Rhabdoid tumor predisposition syndrome 2.
AC DI-02895
AR RTPS2.
DE A familial cancer syndrome predisposing to renal or extrarenal
DE malignant rhabdoid tumors and to a variety of tumors of the central
DE nervous system, including choroid plexus carcinoma, medulloblastoma,
DE and central primitive neuroectodermal tumors. Rhabdoid tumors are the
DE most aggressive and lethal malignancies occurring in early childhood.
DR MIM; 613325; phenotype.
DR MedGen; C2750074.
DR MeSH; D018335.
//
ID Rhabdomyosarcoma 2.
AC DI-02699
AR RMS2.
DE A form of rhabdomyosarcoma, a highly malignant tumor of striated
DE muscle derived from primitive mesenchymal cells and exhibiting
DE differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one
DE of the most frequently occurring soft tissue sarcomas and the most
DE common in children. It occurs in four forms: alveolar, pleomorphic,
DE embryonal and botryoidal rhabdomyosarcomas.
SY Rhabdomyosarcoma alveolar.
SY RMSA.
DR MIM; 268220; phenotype.
DR MedGen; C0206655.
DR MeSH; D018232.
//
ID Rhabdomyosarcoma, embryonal, 1.
AC DI-02267
AR RMSE1.
DE A form of rhabdomyosarcoma, a highly malignant tumor of striated
DE muscle derived from primitive mesenchymal cells and exhibiting
DE differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one
DE of the most frequently occurring soft tissue sarcomas and the most
DE common in children. It occurs in four forms: alveolar, pleomorphic,
DE embryonal and botryoidal rhabdomyosarcomas.
SY Rhabdomyosarcoma 1.
SY RMS1.
DR MIM; 268210; phenotype.
DR MedGen; C1849385.
DR MeSH; D018233.
//
ID Rhabdomyosarcoma, embryonal, 2.
AC DI-03929
AR RMSE2.
DE A form of rhabdomyosarcoma, a highly malignant tumor of striated
DE muscle derived from primitive mesenchymal cells and exhibiting
DE differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one
DE of the most frequently occurring soft tissue sarcomas and the most
DE common in children. It occurs in four forms: alveolar, pleomorphic,
DE embryonal and botryoidal rhabdomyosarcomas.
DR MIM; 180295; phenotype.
DR MedGen; C1867234.
DR MeSH; D018233.
//
ID Rhegmatogenous retinal detachment autosomal dominant.
AC DI-01000
AR DRRD.
DE A eye disease that most frequently results from a break or tear in the
DE retina that allows fluid from the vitreous humor to enter the
DE potential space beneath the retina. It is often associated with
DE pathologic myopia and in most cases leads to visual impairment or
DE blindness if untreated.
DR MIM; 609508; phenotype.
DR MedGen; C1836081.
DR MeSH; D012163.
//
ID Rheumatoid arthritis.
AC DI-02692
AR RA.
DE An inflammatory disease with autoimmune features and a complex genetic
DE component. It primarily affects the joints and is characterized by
DE inflammatory changes in the synovial membranes and articular
DE structures, widespread fibrinoid degeneration of the collagen fibers
DE in mesenchymal tissues, and by atrophy and rarefaction of bony
DE structures.
DR MIM; 180300; phenotype.
DR MedGen; C0003873.
DR MeSH; D001172.
//
ID Rheumatoid arthritis systemic juvenile.
AC DI-02819
AR RASJ.
DE An inflammatory articular disorder with systemic onset beginning
DE before the age of 16. It represents a subgroup of juvenile arthritis
DE associated with severe extraarticular features and occasionally fatal
DE complications. During active phases of the disorder, patients display
DE a typical daily spiking fever, an evanescent macular rash,
DE lymphadenopathy, hepatosplenomegaly, serositis, myalgia and arthritis.
SY Juvenile-onset Still disease.
DR MIM; 604302; phenotype.
DR MedGen; C1858558.
DR MeSH; D001171.
//
ID Rhizomelic chondrodysplasia punctata 1.
AC DI-01001
AR RCDP1.
DE A peroxisome biogenesis disorder. It is characterized by severely
DE disturbed endochondral bone formation, rhizomelic shortening of femur
DE and humerus, vertebral disorders, dwarfism, cataract, cutaneous
DE lesions, facial dysmorphism, and severe intellectual disability with
DE spasticity.
SY CDPR.
SY Chondrodysplasia punctata, rhizomelic form.
SY Chondrodystrophia calcificans punctata.
SY PBD9.
SY Peroxisome biogenesis disorder 9.
SY Rhizomelic chondrodysplasia punctata, type 1.
DR MIM; 215100; phenotype.
DR MedGen; C1859133.
DR MeSH; D018902.
KW KW-0685:Rhizomelic chondrodysplasia punctata.
KW KW-0958:Peroxisome biogenesis disorder.
//
ID Rhizomelic chondrodysplasia punctata 2.
AC DI-01002
AR RCDP2.
DE A form of rhizomelic chondrodysplasia punctata, a disease
DE characterized by severely disturbed endochondral bone formation,
DE rhizomelic shortening of femur and humerus, vertebral disorders,
DE dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe
DE intellectual disability with spasticity.
SY Chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate acyltransferase deficiency.
SY DHAPAT deficiency.
SY Dihydroxyacetonephosphate acyltransferase deficiency.
SY Glyceronephosphate O-acyltransferase deficiency.
SY GNPAT deficiency.
SY Peroxisomal dihydroxyacetonephosphate acyltransferase deficiency.
SY Rhizomelic chondrodysplasia punctata, type 2.
DR MIM; 222765; phenotype.
DR MedGen; C1857242.
DR MeSH; D018902.
KW KW-0685:Rhizomelic chondrodysplasia punctata.
//
ID Rhizomelic chondrodysplasia punctata 3.
AC DI-01003
AR RCDP3.
DE A form of rhizomelic chondrodysplasia punctata, a disease
DE characterized by severely disturbed endochondral bone formation,
DE rhizomelic shortening of femur and humerus, vertebral disorders,
DE dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe
DE intellectual disability with spasticity.
SY AGPS deficiency.
SY Alkyldihydroxyacetonephosphate synthase deficiency.
SY Alkylglycerone-phosphate synthase deficiency.
SY Rhizomelic chondrodysplasia punctata, type 3.
DR MIM; 600121; phenotype.
DR MedGen; C1838612.
DR MeSH; D018902.
KW KW-0685:Rhizomelic chondrodysplasia punctata.
//
ID Rhizomelic chondrodysplasia punctata 5.
AC DI-04602
AR RCDP5.
DE A form of rhizomelic chondrodysplasia punctata, a disease
DE characterized by severely disturbed endochondral bone formation,
DE rhizomelic shortening of femur and humerus, vertebral disorders,
DE dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe
DE intellectual disability with spasticity.
SY Rhizomelic chondrodysplasia punctata, type 5.
DR MIM; 616716; phenotype.
DR MedGen; CN234653.
DR MeSH; D018902.
KW KW-0685:Rhizomelic chondrodysplasia punctata.
KW KW-0958:Peroxisome biogenesis disorder.
//
ID Rhizomelic dysplasia, Ain-Naz type.
AC DI-06238
AR RHZDAN.
DE An autosomal recessive skeletal dysplasia characterized by short
DE stature, marked rhizomelic shortening of the limbs, platyspondyly, hip
DE dysplasia, and large hands and feet relative to height.
DR MIM; 619598; phenotype.
DR MedGen; CN301098.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Rhizomelic limb shortening with dysmorphic features.
AC DI-05792
AR RLSDF.
DE An autosomal recessive skeletal dysplasia characterized by rhizomelic
DE shortening of limbs as well as variable dysmorphic features, including
DE macrocephaly, short neck, micrognathia, mild proptosis, downslanting
DE palpebral fissures, depressed or broad nasal bridge and long philtrum.
DR MIM; 618821; phenotype.
DR MedGen; CN263374.
DR MeSH; D010009.
//
ID RHYNS syndrome.
AC DI-05440
AR RHYNS.
DE An autosomal recessive syndrome characterized by gaze palsy, retinitis
DE pigmentosa, sensorineural hearing loss, hypopituitarism,
DE nephronophthisis, and skeletal dysplasia.
DR MIM; 602152; phenotype.
DR MedGen; C1865794.
DR MeSH; D000072661.
DR MeSH; D007018.
KW KW-0209:Deafness.
KW KW-0682:Retinitis pigmentosa.
KW KW-0983:Nephronophthisis.
KW KW-1186:Ciliopathy.
//
ID Riboflavin deficiency.
AC DI-03674
AR RBFVD.
DE A disorder caused by a primary defect in riboflavin metabolism, or by
DE dietary riboflavin deficiency. Riboflavin deficiency during pregnancy
DE results in hypoglycemia, metabolic acidosis, dicarboxylic aciduria and
DE elevated plasma acylcarnitine levels in the newborn. Treatment with
DE oral riboflavin results in complete resolution of the clinical and
DE biochemical findings.
DR MIM; 615026; phenotype.
DR MedGen; C0035528.
DR MeSH; D012257.
//
ID Ribose 5-phosphate isomerase deficiency.
AC DI-02268
AR RPIAD.
DE An autosomal recessive inborn error of polyols metabolism
DE characterized by highly elevated level of ribitol and arabitol in
DE brain and body fluids. Clinical features include leukoencephalopathy,
DE psychomotor retardation from early life, neurologic regression, and a
DE mild sensorimotor neuropathy.
DR MIM; 608611; phenotype.
DR MedGen; C1291609.
DR MeSH; D002239.
KW KW-0622:Neuropathy.
//
ID Richieri-Costa-Pereira syndrome.
AC DI-04063
AR RCPS.
DE A syndrome characterized by a unique pattern of anomalies consisting
DE of microstomia, micrognathia, abnormal fusion of mandible, cleft
DE palate/Robin sequence, absence of central lower incisors, minor ears
DE anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic
DE halluces, and clubfeet. Learning disability is also a common finding.
SY Richieri-Costa and Pereira syndrome.
SY Robin sequence with cleft mandible and limb anomalies.
DR MIM; 268305; phenotype.
DR MedGen; C1849348.
DR MeSH; D003025.
DR MeSH; D006228.
DR MeSH; D010855.
//
ID Rickets vitamin D-dependent 1A.
AC DI-02414
AR VDDR1A.
DE A disorder caused by a selective deficiency of the active form of
DE vitamin D (1,25-dihydroxyvitamin D3) and resulting in defective bone
DE mineralization and clinical features of rickets.
SY 1-alpha 25-hydroxyvitamin D3 deficiency selective.
SY 1-alpha-hydroxylase deficiency.
SY 25-hydroxycholecalciferol-1-hydroxylase deficiency.
SY PDDR.
SY PDDR1A.
SY PDDR IA.
SY Pseudovitamin D deficiency rickets.
SY Pseudovitamin D-deficiency rickets type IA.
SY VDD1.
SY Vitamin D dependency type 1.
DR MIM; 264700; phenotype.
DR MedGen; C0268689.
DR MeSH; D012279.
//
ID Rickets vitamin D-dependent 1B.
AC DI-00008
AR VDDR1B.
DE An autosomal recessive disorder caused by a selective deficiency of
DE the active form of vitamin D (1,25-dihydroxyvitamin D3) and resulting
DE in defective bone mineralization and clinical features of rickets. The
DE patients sera have low calcium concentrations, low phosphate
DE concentrations, elevated alkaline phosphatase activity and low levels
DE of 25-hydroxyvitamin D.
SY 25-hydroxyvitamimn D3 deficiency selective.
SY 25-hydroxyvitamin D(3) deficiency.
SY Pseudovitamin D(3) deficiency rickets due to 25-hydroxylase deficiency.
SY Selective 25-hydroxyvitamin D(3) deficiency.
DR MIM; 600081; phenotype.
DR MedGen; C1838657.
DR MeSH; D012279.
//
ID Rickets vitamin D-dependent 2A.
AC DI-02398
AR VDDR2A.
DE A disorder of vitamin D metabolism resulting in severe rickets,
DE hypocalcemia and secondary hyperparathyroidism. Most patients have
DE total alopecia in addition to rickets.
SY Generalized resistance to 1,25-dihydroxyvitamin D.
SY HVDRR.
SY Hypocalcemic vitamin D-resistant rickets.
SY PDDR IIA.
SY Pseudovitamin D-deficiency type IIA.
SY Rickets-alopecia syndrome.
SY Rickets hereditary vitamin D-resistant.
SY Type IIA rickets.
SY Vitamin D-dependent rickets type 2A with or without alopecia.
SY Vitamin D-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol.
DR MIM; 277440; phenotype.
DR MedGen; C0268690.
DR MedGen; C0342646.
DR MedGen; C0342647.
DR MeSH; D012279.
//
ID Riddle syndrome.
AC DI-02269
AR RIDL.
DE An autosomal recessive disorder characterized by increased
DE radiosensitivity, immunodeficiency, mild motor control and learning
DE difficulties, facial dysmorphism, and short stature.
SY Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties.
DR MIM; 611943; phenotype.
DR MedGen; C2677792.
DR MeSH; D000081207.
DR MeSH; D007859.
DR MeSH; D019465.
//
ID Right atrial isomerism.
AC DI-03896
AR RAI.
DE A severe complex congenital heart defect resulting from embryonic
DE disruption of proper left-right axis determination. RAI is usually
DE characterized by complete atrioventricular septal defect with a common
DE atrium and univentricular AV connection, total anomalous pulmonary
DE drainage, and transposition or malposition of the great arteries.
DE Affected individuals present at birth with severe cardiac failure.
DE Other associated abnormalities include bilateral trilobed lungs,
DE midline liver, and asplenia, as well as situs inversus affecting other
DE organs.
SY Asplenia with cardiovascular anomalies.
SY Heterotaxy, visceroatrial, autosomal recessive.
SY Ivemark syndrome.
SY Polyasplenia.
SY VAH, autosomal recessive.
DR MIM; 208530; phenotype.
DR MedGen; C0175707.
DR MedGen; C0265357.
DR MedGen; C1876171.
DR MedGen; C1876172.
DR MedGen; C1876173.
DR MeSH; D059446.
//
ID Rigid spine muscular dystrophy 1.
AC DI-00795
AR RSMD1.
DE A neuromuscular disorder characterized by poor axial muscle strength,
DE scoliosis and neck weakness, and a variable degree of spinal rigidity.
DE Early ventilatory insufficiency can lead to death by respiratory
DE failure.
SY Congenital merosin-positive muscular dystrophy with early spine rigidity.
SY Congenital muscular dystrophy Eichsfeld type.
SY Congenital muscular dystrophy merosin-positive with early spine rigidity.
SY Desmin-related myopathy with Mallory bodies.
SY MDRS1.
SY Minicore myopathy severe classic form.
SY Multicore myopathy severe classic form.
SY Multiminicore disease severe classic form.
SY Rigid spine syndrome.
SY RSS.
SY SEPN1-related myopathy.
DR MIM; 602771; phenotype.
DR MedGen; C0410180.
DR MeSH; D020914.
KW KW-0911:Desmin-related myopathy.
//
ID Rigidity and multifocal seizure syndrome, lethal neonatal.
AC DI-03404
AR RMFSL.
DE A lethal, neonatal, neurologic disorder characterized by episodic
DE jerking that is apparent in utero, lack of psychomotor development,
DE axial and limb rigidity, frequent multifocal seizures, and
DE dysautonomia. At birth, affected individuals have small heads,
DE overlapping cranial sutures, small or absent fontanels, and depressed
DE frontal bones. Infants show poorly responsive focal jerks of the
DE tongue, face and arms in a nearly continuous sequence throughout life.
DR MIM; 614498; phenotype.
DR MedGen; C3281029.
DR MeSH; D009127.
DR MeSH; D012640.
KW KW-0887:Epilepsy.
//
ID Ring dermoid of cornea.
AC DI-02729
AR RDC.
DE An ocular disorder characterized by bilateral annular limbal dermoids
DE (growths with a skin-like structure) with corneal and conjunctival
DE extension.
DR MIM; 180550; phenotype.
DR MedGen; C1867155.
DR MeSH; D003884.
//
ID Rippling muscle disease 2.
AC DI-02270
AR RMD2.
DE A disorder characterized by mechanically triggered contractions of
DE skeletal muscle. Mechanical stimulation leads to electrically silent
DE muscle contractions that spread to neighboring fibers and cause
DE visible ripples to move over the muscle. RMD2 inheritance is autosomal
DE dominant or autosomal recessive.
SY LGMD1C.
SY Limb-girdle muscular dystrophy 1C.
SY Muscular dystrophy, limb-girdle, type 1C.
DR MIM; 606072; phenotype.
DR MedGen; C1832560.
DR MedGen; C1853698.
DR MeSH; D009135.
KW KW-0947:Limb-girdle muscular dystrophy.
//
ID Ritscher-Schinzel syndrome 1.
AC DI-04011
AR RTSC1.
DE A developmental malformation syndrome characterized by craniofacial
DE abnormalities, congenital heart defects, and cerebellar brain
DE malformations. Facial features include prominent occiput, prominent
DE forehead, low-set ears, downslanting palpebral fissures, depressed
DE nasal bridge, and micrognathia. Cardiac defects can include septal
DE defects and aortic stenosis, among others, and brain imaging shows
DE Dandy-Walker malformation, cerebellar vermis hypoplasia, posterior
DE fossa cysts, and ventricular dilatation. Affected individuals have
DE severe developmental delay.
SY 3C syndrome.
SY Craniocerebellocardiac dysplasia.
SY Dandy-Walker-like malformation with atrioventricular septal defect.
DR MIM; 220210; phenotype.
DR MedGen; C0796137.
DR MeSH; D003616.
DR MeSH; D006344.
DR MeSH; D019465.
KW KW-0991:Intellectual disability.
//
ID Ritscher-Schinzel syndrome 2.
AC DI-04573
AR RTSC2.
DE A form of Ritscher-Schinzel syndrome, a developmental malformation
DE syndrome characterized by cerebellar brain malformations, congenital
DE heart defects, and craniofacial abnormalities. RTSC2 is an X-linked
DE recessive form characterized by intellectual disability associated
DE with posterior fossa defects, cardiac malformations, and minor
DE abnormalities of the face and distal extremities.
DR MIM; 300963; phenotype.
DR MedGen; CN233320.
DR MeSH; D003616.
DR MeSH; D006344.
DR MeSH; D019465.
KW KW-0991:Intellectual disability.
//
ID Ritscher-Schinzel syndrome 3.
AC DI-05996
AR RTSC3.
DE A form of Ritscher-Schinzel syndrome, a developmental malformation
DE syndrome characterized by cerebellar brain malformations, congenital
DE heart defects, and craniofacial abnormalities. RTSC3 is an autosomal
DE recessive form. Affected individuals show cranio-cerebello-cardiac
DE anomalies, coloboma, microphthalmia, chondrodysplasia punctata,
DE complicated skeletal malformations, periventricular nodular
DE heterotopia and proteinuria.
DR MIM; 619135; phenotype.
DR MedGen; CN293598.
DR MeSH; D003616.
DR MeSH; D006344.
DR MeSH; D019465.
//
ID Ritscher-Schinzel syndrome 4.
AC DI-06167
AR RTSC4.
DE An autosomal dominant form of Ritscher-Schinzel syndrome, a
DE developmental malformation syndrome characterized by cerebellar brain
DE anomalies associated with global developmental delay and impaired
DE intellectual development, congenital heart defects, and craniofacial
DE abnormalities.
DR MIM; 619435; phenotype.
DR MedGen; CN300065.
DR MeSH; D003616.
DR MeSH; D006344.
DR MeSH; D019465.
//
ID Roberts-SC phocomelia syndrome.
AC DI-02272
AR RBS.
DE An autosomal recessive disorder characterized by pre- and postnatal
DE growth retardation, intellectual disability, microcephaly, bilateral
DE cleft lip and cleft palate, and mesomelic symmetric limb reduction.
DE Severely affected infants may be stillborn or die shortly after birth.
DE Patient chromosomes have a lack of cohesion involving heterochromatic
DE C-banding regions around centromeres and the heterochromatin regions
DE on the 1, 9, 16, and Y chromosomes. These findings are referred to as
DE premature centromere separation (PCS) and heterochromatin repulsion
DE (HR), and they are important for the diagnosis of the syndrome.
SY Long bone deficiencies associated with cleft lip-palate.
SY Roberts syndrome.
SY SC phocomelia syndrome.
SY SC pseudothalidomide syndrome.
DR MIM; 268300; phenotype.
DR MedGen; C0392475.
DR MeSH; D004480.
DR MeSH; D008607.
DR MeSH; D019465.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
//
ID Robinow syndrome, autosomal dominant 1.
AC DI-03227
AR DRS1.
DE A disease characterized by short-limb dwarfism, costovertebral
DE segmentation defects and abnormalities of the head, face and external
DE genitalia. The clinical signs are generally milder in dominant cases.
SY Acral dysostosis with facial and genital abnormalities.
SY Fetal face syndrome.
SY Robinow dwarfism.
DR MIM; 180700; phenotype.
DR MedGen; C0265205.
DR MeSH; D004392.
DR MeSH; D014564.
DR MeSH; D017880.
DR MeSH; D019465.
KW KW-0242:Dwarfism.
//
ID Robinow syndrome, autosomal dominant 2.
AC DI-04392
AR DRS2.
DE A rare skeletal dysplasia syndrome characterized by dysmorphic
DE features resembling a fetal face, mesomelic limb shortening,
DE hypoplastic external genitalia in males, costovertebral segmentation
DE defects, and renal anomalies.
DR MIM; 616331; phenotype.
DR MedGen; CN229715.
DR MeSH; D004392.
DR MeSH; D014564.
DR MeSH; D017880.
DR MeSH; D019465.
KW KW-0242:Dwarfism.
//
ID Robinow syndrome, autosomal dominant 3.
AC DI-04701
AR DRS3.
DE A form of Robinow syndrome, a rare skeletal dysplasia syndrome
DE characterized by dysmorphic features resembling a fetal face,
DE mesomelic limb shortening, genital hypoplasia, renal anomalies, and
DE costovertebral segmentation defects.
DR MIM; 616894; phenotype.
DR MedGen; CN235904.
DR MeSH; D004392.
DR MeSH; D014564.
DR MeSH; D017880.
DR MeSH; D019465.
KW KW-0242:Dwarfism.
//
ID Robinow syndrome, autosomal recessive 1.
AC DI-02247
AR RRS1.
DE A recessive form of Robinow syndrome, a disease characterized by
DE short-limb dwarfism, costovertebral segmentation defects and
DE abnormalities of the head, face and external genitalia. The clinical
DE signs are generally far more severe in recessive cases, particularly
DE skeletal abnormalities. All patients with the recessive form suffer
DE from vertebral segmentation abnormalities, resulting in scoliosis and
DE chest deformities. Rib fusions are considered to be characteristic of
DE the autosomal recessive form. Patients can also present brachydactyly,
DE with extensive aplasia/hypoplasia of the phalanges and
DE metacarpals/metatarsals, and brachy-syn-polydactyly of the hands and
DE oligodactyly of the feet.
SY Costovertebral segmentation defect with mesomelia.
SY COVESDEM syndrome.
SY Robinow syndrome autosomal recessive with aplasia/hypoplasia of phalanges and metacarpals/metatarsals.
SY Robinow syndrome autosomal recessive with brachy-syn-polydactyly.
DR MIM; 268310; phenotype.
DR MedGen; C1849334.
DR MedGen; C3151609.
DR MedGen; C3151610.
DR MeSH; D004392.
DR MeSH; D014564.
DR MeSH; D017880.
DR MeSH; D019465.
KW KW-0242:Dwarfism.
//
ID Robinow syndrome, autosomal recessive 2.
AC DI-05633
AR RRS2.
DE A recessive form of Robinow syndrome, a disease characterized by
DE short-limb dwarfism, costovertebral segmentation defects and
DE abnormalities of the head, face and external genitalia. The clinical
DE signs are generally far more severe in recessive cases, particularly
DE skeletal abnormalities. All patients with the recessive form suffer
DE from vertebral segmentation abnormalities, resulting in scoliosis and
DE chest deformities. Rib fusions are considered to be characteristic of
DE the autosomal recessive form. Patients can also present brachydactyly,
DE with extensive aplasia/hypoplasia of the phalanges and
DE metacarpals/metatarsals, and brachy-syn-polydactyly of the hands and
DE oligodactyly of the feet.
DR MIM; 618529; phenotype.
DR MedGen; CN262179.
DR MeSH; D004392.
DR MeSH; D014564.
DR MeSH; D017880.
DR MeSH; D019465.
KW KW-0242:Dwarfism.
//
ID Robinow-Sorauf syndrome.
AC DI-01004
AR RSS.
DE An autosomal dominant syndrome characterized by craniosynostosis,
DE asymmetry of orbits, flat face, hypertelorism, a thin, long, and
DE pointed nose, shallow orbits, strabismus, and broad great toes with a
DE duplication of the distal phalanx. RSS is clinically similar to
DE Saethre-Chotzen syndrome, with the most characteristic additional
DE feature in Robinow-Sorauf syndrome being a bifid or partially
DE duplicated hallux.
SY Acrocephalosyndactyly Robinow-Sorauf type.
SY Craniosynostosis-bifid hallux syndrome.
DR MIM; 180750; phenotype.
DR MedGen; C1867146.
DR MeSH; D000168.
KW KW-0989:Craniosynostosis.
//
ID Rod-cone dystrophy Newfoundland.
AC DI-01005
AR NFRCD.
DE A rod-cone dystrophy reminiscent of retinitis punctata albescens but
DE with a substantially lower age at onset and more-rapid and distinctive
DE progression. Rod-cone dystrophies results from initial loss of rod
DE photoreceptors, later followed by cone photoreceptors loss.
DR MIM; 607476; phenotype.
DR MedGen; C1843815.
DR MeSH; D012174.
//
ID Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction.
AC DI-06374
AR RCDFRD.
DE An autosomal recessive disease characterized by visual impairment due
DE to rod-cone dystrophy, sensorineural hearing loss, and Fanconi-type
DE renal dysfunction resulting in rickets-like skeletal changes. Death
DE may occur in childhood or young adulthood due to renal failure.
DE Disease onset is before age 5 years.
DR MIM; 268315; phenotype.
DR MedGen; C1849333.
DR MeSH; D006319.
DR MeSH; D015499.
DR MeSH; D058499.
KW KW-0209:Deafness.
//
ID Roifman-Chitayat syndrome.
AC DI-06090
AR ROCHIS.
DE An autosomal recessive digenic disorder characterized by global
DE developmental delay, variable neurologic features such as seizures and
DE ataxia, optic atrophy, dysmorphic facial features, distal skeletal
DE anomalies, and recurrent invasive infections due to combined
DE immunodeficiency.
SY Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay.
DR MIM; 613328; phenotype.
DR MedGen; C2750068.
DR MeSH; D001847.
DR MeSH; D007153.
DR MeSH; D009422.
//
ID Rokitansky-Kuster-Hauser syndrome.
AC DI-02273
AR RKH syndrome.
DE Characterized by utero-vaginal atresia in otherwise phenotypically
DE normal female with a normal 46,XX karyotype. Anomalies of the genital
DE tract range from upper vaginal atresia to total Muellerian agenesis
DE with urinary tract abnormalities. It has an incidence of approximately
DE 1 in 5'000 newborn girls.
SY Mayer-Rokitansky-Kuster-Hauser syndrome.
SY MRKH anomaly.
SY MRKH syndrome.
DR MIM; 277000; phenotype.
DR MedGen; C1698581.
//
ID Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, X-linked.
AC DI-02456
AR RESDX.
DE A condition characterized by the association of rolandic seizures with
DE oral and speech dyspraxia, and intellectual disability. Rolandic
DE seizures occur during a period of significant brain maturation. During
DE this time, dysfunction of neural network activities such as focal
DE discharges may be associated with specific developmental disabilities
DE resulting in specific cognitive impairments of language, visuo-spatial
DE abilities or attention.
DR MIM; 300643; phenotype.
DR MedGen; C1845070.
DR MeSH; D001072.
DR MeSH; D008607.
DR MeSH; D019305.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Rothmund-Thomson syndrome 1.
AC DI-05679
AR RTS1.
DE An autosomal recessive disorder characterized by sparse hair,
DE bilateral juvenile cataracts, and poikiloderma, a genodermatosis
DE presenting with mottled pigmentation, telangiectasia and epidermal
DE atrophy. Additional features are short stature, dystrophic and thin
DE nails, and genital, skeletal and dental abnormalities. RTS1 is not
DE associated with an increased risk of cancer.
SY Poikiloderma atrophicans and cataract.
SY Rothmund-Thomson syndrome, type 1.
DR MIM; 618625; phenotype.
DR MedGen; C5231433.
DR MeSH; D011038.
KW KW-0038:Ectodermal dysplasia.
KW KW-1063:Hypotrichosis.
//
ID Rothmund-Thomson syndrome 2.
AC DI-02274
AR RTS2.
DE An autosomal recessive disorder characterized by dermatological
DE features such as skin atrophy, pigmentation abnormalities, and
DE telangiectasia. It is frequently accompanied by juvenile cataract,
DE saddle nose, congenital bone defects, disturbances of hair growth,
DE hypogonadism, and an increased risk of osteosarcoma in childhood and
DE skin cancer later in life.
DR MIM; 268400; phenotype.
DR MedGen; C5203410.
DR MeSH; D011038.
//
ID Roussy-Levy syndrome.
AC DI-02275
AR ROULS.
DE Autosomal dominant disorder that resembles Charcot-Marie-Tooth disease
DE type 1 in that it presents with foot deformity, weakness and atrophy
DE of distal limb muscles, especially the peronei, and absent tendon
DE reflexes. The phenotype differs, however, in that it includes static
DE tremor of the upper limbs and gait ataxia.
SY Roussy-Levy hereditary areflexic dystasia.
DR MIM; 180800; phenotype.
DR MedGen; C0205713.
//
ID Rubinstein-Taybi syndrome 1.
AC DI-02730
AR RSTS1.
DE A disorder characterized by craniofacial abnormalities, postnatal
DE growth deficiency, broad thumbs, broad big toes, intellectual
DE disability and a propensity for development of malignancies.
SY Broad thumb-hallux syndrome.
SY RSTS.
SY Rubinstein syndrome.
DR MIM; 180849; phenotype.
DR MedGen; C0035934.
DR MeSH; D012415.
//
ID Rubinstein-Taybi syndrome 2.
AC DI-02976
AR RSTS2.
DE A disorder characterized by craniofacial abnormalities, postnatal
DE growth deficiency, broad thumbs, broad big toes, intellectual
DE disability and a propensity for development of malignancies. Some
DE individuals with RSTS2 have less severe mental impairment, more severe
DE microcephaly, and a greater degree of changes in facial bone structure
DE than RSTS1 patients.
DR MIM; 613684; phenotype.
DR MedGen; C3150941.
DR MeSH; D012415.
//
ID Ruijs-Aalfs syndrome.
AC DI-04313
AR RJALS.
DE A syndrome characterized by genomic instability, progeroid features,
DE and susceptibility toward early onset hepatocellular carcinoma.
DR MIM; 616200; phenotype.
DR MedGen; CN225196.
DR MeSH; D002277.
DR MeSH; D049914.
//
ID Sacral agenesis with vertebral anomalies.
AC DI-04072
AR SAVA.
DE A disorder characterized by abnormalities of the spine, including
DE sacral agenesis, abnormal ossification of all vertebral bodies, and a
DE persistent notochordal canal during development.
DR MIM; 615709; phenotype.
DR MedGen; C3810343.
DR MedGen; CN186032.
DR MeSH; D013122.
//
ID Sacral defect with anterior meningocele.
AC DI-02277
AR SDAM.
DE Form of caudal dysgenesis. It is present at birth and becomes
DE symptomatic later in life, usually because of obstructive labor in
DE females, chronic constipation, or meningitis. Inheritance is autosomal
DE dominant.
DR MIM; 600145; phenotype.
DR MedGen; C0037205.
DR MedGen; C0300948.
DR MedGen; C0344490.
DR MedGen; C1838568.
DR MedGen; C1838569.
//
ID Saethre-Chotzen syndrome.
AC DI-01006
AR SCS.
DE A craniosynostosis syndrome characterized by coronal synostosis,
DE brachycephaly, low frontal hairline, facial asymmetry, hypertelorism,
DE broad halluces, and clinodactyly.
SY Acrocephalosyndactyly type 3.
SY ACS3.
SY ACS III.
DR MIM; 101400; phenotype.
DR MedGen; C0175699.
DR MedGen; C1863370.
DR MedGen; C1863371.
DR MeSH; D000168.
KW KW-0989:Craniosynostosis.
//
ID Salih myopathy.
AC DI-01514
AR SALMY.
DE An autosomal recessive, early-onset muscular disorder characterized by
DE dilated cardiomyopathy, delayed motor development with generalized
DE muscle weakness predominantly affecting proximal and distal lower
DE limbs. Skeletal muscle biopsies show minicore-like lesions with
DE mitochondrial depletion and sarcomere disorganization, centralized
DE nuclei, and type 1 fiber predominance. Dystrophic changes become
DE apparent in the second decade. Cardiac muscle biopsies show disruption
DE of myocardial architecture, nuclear hypertrophy, and endomysial
DE fibrosis. Sudden death may occurr due to cardiomyopathy.
SY Early-onset myopathy with fatal cardiomyopathy.
SY EOMFC.
SY Myopathy, early-onset, with fatal cardiomyopathy.
DR MIM; 611705; phenotype.
DR MedGen; C2673677.
DR MeSH; D009135.
DR MeSH; D009202.
KW KW-0122:Cardiomyopathy.
//
ID Salla disease.
AC DI-02278
AR SD.
DE Sialic acid storage disease (SASD). SASDs are autosomal recessive
DE neurodegenerative disorders characterized by hypotonia, cerebellar
DE ataxia and intellectual disability. They are caused by a defect in the
DE metabolism of sialic acid which results in increased urinary excretion
DE of unconjugated sialic acid, specifically N-acetylneuraminic acid.
DE Enlarged lysosomes are seen on electron microscopic studies. Clinical
DE symptoms of SD present usually at age less than 1 year and progression
DE is slow.
SY Finnish type sialuria.
DR MIM; 604369; phenotype.
DR MedGen; C1096903.
//
ID Salt and pepper developmental regression syndrome.
AC DI-00096
AR SPDRS.
DE A rare autosomal recessive disorder characterized by infantile onset
DE of severe, recurrent and refractory seizures, failure to thrive,
DE psychomotor delay, developmental stagnation, and cortical blindness.
DE Deafness is observed in some patients. Affected individuals have
DE patches of skin hypo- or hyperpigmentation on the trunk, face, and
DE extremities.
SY AIES.
SY Amish infantile epilepsy syndrome.
SY Epilepsy syndrome infantile-onset symptomatic.
SY GM3 synthase deficiency.
DR MIM; 609056; phenotype.
DR MedGen; C1836824.
DR MeSH; D004827.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Sandestig-Stefanova syndrome.
AC DI-05785
AR SANDSTEF.
DE An autosomal recessive syndrome characterized by pre- and postnatal
DE microcephaly, trigonocephaly, congenital bilateral cataract,
DE microphthalmia, cleft lip and palate or high-arched palate,
DE camptodactyly, rocker-bottom feet, heart anomalies, specific brain
DE changes such as loss of periventricular white matter, thin corpus
DE callosum, and delayed myelinization.
DR MIM; 618804; phenotype.
DR MedGen; CN263352.
DR MeSH; D000015.
KW KW-0898:Cataract.
KW KW-1013:Microphthalmia.
//
ID Sarcoidosis 1.
AC DI-02731
AR SS1.
DE An idiopathic, systemic, inflammatory disease characterized by the
DE formation of immune granulomas in involved organs. Granulomas
DE predominantly invade the lungs and the lymphatic system, but also
DE skin, liver, spleen, eyes and other organs may be involved.
SY Besnier-Boeck-Schaumann disease.
SY Boeck sarcoid.
SY Sarcoidosis.
DR MIM; 181000; phenotype.
DR MedGen; C2697310.
DR MedGen; CN034668.
DR MeSH; D012507.
//
ID Sarcoidosis 2.
AC DI-02732
AR SS2.
DE An idiopathic, systemic, inflammatory disease characterized by the
DE formation of immune granulomas in involved organs. Granulomas
DE predominantly invade the lungs and the lymphatic system, but also
DE skin, liver, spleen, eyes and other organs may be involved.
SY Besnier-Boeck-Schaumann disease.
SY Boeck sarcoid.
SY Sarcoidosis.
DR MIM; 612387; phenotype.
DR MedGen; C2676468.
DR MeSH; D012507.
//
ID Sarcosinemia.
AC DI-02279
AR SARCOS.
DE A metabolic disorder characterized by an increased concentration of
DE sarcosine in plasma and an increased excretion of sarcosine in urine.
DE Sarcosinemia is most probably a benign condition without significant
DE clinical problems. Some reports have associated sarcosinemia with
DE intellectual disability and neurologic problems.
SY Hypersarcosinemia.
SY Sarcosine dehydrogenase complex deficiency.
SY SARD deficiency.
SY SARDHD.
SY SARDH deficiency.
DR MIM; 268900; phenotype.
DR MedGen; C0268563.
DR MeSH; D000592.
//
ID Saul-Wilson syndrome.
AC DI-05354
AR SWILS.
DE A rare skeletal dysplasia with characteristic dysmorphic and
DE radiographic findings, as well as early developmental delay, primarily
DE involving speech, with eventual normal cognition. Clinical findings
DE include marked short stature, prominent forehead with an enlarged
DE anterior fontanel, prominent eyes with cataracts, narrow nasal bridge
DE with a convex nasal ridge, micrognathia, clubfoot, brachydactyly, and
DE short distal phalanges of fingers. Radiographic changes include
DE platyspondyly, irregular end plates of vertebral bodies, and
DE hypoplasia of the odontoid process with cervical instability in the
DE spine, coxa valga, overtubulation, metaphyseal flaring and
DE megaepiphyses in the long bones, while the hands and feet exhibit
DE short phalanges, metacarpals and metatarsals, cone-shaped epiphyses of
DE phalanges, and accessory ossification centers of metacarpals and
DE metatarsals.
SY Microcephalic osteodysplastic dysplasia.
DR MIM; 618150; phenotype.
DR MedGen; CN257733.
DR MeSH; D004392.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Scalp-ear-nipple syndrome.
AC DI-03827
AR SENS.
DE A disease characterized by aplasia cutis congenita of the scalp,
DE breast anomalies that range from hypothelia or athelia to amastia, and
DE minor anomalies of the external ears. Less frequent clinical
DE characteristics include nail dystrophy, dental anomalies, cutaneous
DE syndactyly of the digits, and renal malformations. Penetrance appears
DE to be high, although there is substantial variable expressivity within
DE families.
SY Finlay-Marks syndrome.
SY SEN syndrome.
DR MIM; 181270; phenotype.
DR MedGen; C1867020.
DR MeSH; D000015.
//
ID Scapuloperoneal myopathy MYH7-related.
AC DI-02281
AR SPMM.
DE Progressive muscular atrophia beginning in the lower legs and
DE affecting the shoulder region earlier and more severely than distal
DE arm.
SY Scapuloperoneal syndrome myopathic type.
DR MIM; 181430; phenotype.
DR MedGen; C2931268.
DR MedGen; CN074265.
//
ID Scapuloperoneal myopathy, X-linked dominant.
AC DI-02442
AR SPM.
DE A disease characterized by progressive muscle weakness and wasting,
DE upper and lower limbs weakness, foot drop, scapular winging, and
DE myopathic changes on muscle biopsy. Most affected individuals become
DE wheelchair-bound.
SY Scapuloperoneal myopathy FHL1-related.
DR MIM; 300695; phenotype.
DR MedGen; C2678061.
DR MeSH; D020389.
//
ID Scapuloperoneal spinal muscular atrophy.
AC DI-02689
AR SPSMA.
DE A clinically variable neuromuscular disorder characterized by
DE neurogenic scapuloperoneal amyotrophy, laryngeal palsy, congenital
DE absence of muscles, progressive scapuloperoneal atrophy and
DE progressive distal weakness and amyotrophy.
SY Amyotrophy neurogenic scapuloperoneal New England type.
DR MIM; 181405; phenotype.
DR MedGen; C0751335.
DR MeSH; D009134.
KW KW-0523:Neurodegeneration.
//
ID Schaaf-Yang syndrome.
AC DI-03984
AR SHFYNG.
DE A disease characterized by clinical features of Prader-Willi syndrome,
DE including neonatal hypotonia with poor suck, feeding problems in
DE infancy, obesity, developmental delay, short stature, and
DE hypogonadism. Additionally, patients manifest autism spectrum
DE disorder. Some patients have dysmorphic facial features.
SY Chitayat-Hall syndrome.
SY Prader-Willi-like syndrome.
SY PWLS.
DR MIM; 615547; phenotype.
DR MedGen; C3809877.
DR MeSH; D000015.
KW KW-0550:Obesity.
KW KW-0991:Intellectual disability.
KW KW-1268:Autism spectrum disorder.
//
ID Schimke immuno-osseous dysplasia.
AC DI-02282
AR SIOD.
DE An autosomal recessive pleiotropic disorder characterized by
DE spondyloepiphyseal dysplasia, renal dysfunction and immunodeficiency.
DE Arteriosclerosis may also occur in some case.
SY Immunoosseous dysplasia, Schimke type.
SY Schimke immunoosseous dysplasia.
DR MIM; 242900; phenotype.
DR MedGen; C0877024.
DR MeSH; D007153.
DR MeSH; D007674.
DR MeSH; D010009.
//
ID Schimmelpenning-Feuerstein-Mims syndrome.
AC DI-03512
AR SFM.
DE A disease characterized by sebaceous nevi, often on the face,
DE associated with variable ipsilateral abnormalities of the central
DE nervous system, ocular anomalies, and skeletal defects. Many oral
DE manifestations have been reported, not only including hypoplastic and
DE malformed teeth, and mucosal papillomatosis, but also ankyloglossia,
DE hemihyperplastic tongue, intraoral nevus, giant cell granuloma,
DE ameloblastoma, bone cysts, follicular cysts, oligodontia, and
DE odontodysplasia. Sebaceous nevi follow the lines of Blaschko and these
DE can continue as linear intraoral lesions, as in mucosal
DE papillomatosis.
SY Epidermal nevus syndrome.
SY Jadassohn nevus phakomatosis.
SY JNP.
SY Linear sebaceous nevus syndrome.
SY Nevus sebaceus of Jadassohn.
SY Organoid nevus phakomatosis.
SY Schimmelpenning syndrome.
SY SFM syndrome.
SY Solomon syndrome.
SY SS.
DR MIM; 163200; phenotype.
DR MedGen; C0265318.
DR MeSH; D054000.
//
ID Schindler disease.
AC DI-02283
AR SCHIND.
DE Form of NAGA deficiency characterized by early-onset neuroaxonal
DE dystrophy and neurological signs (convulsion during fever, epilepsy,
DE psychomotor retardation and hypotonia). NAGA deficiency is typically
DE classified in three main phenotypes: NAGA deficiency type I (Schindler
DE disease or Schindler disease type I) with severe manifestations; NAGA
DE deficiency type II (Kanzazi disease or Schindler disease type II)
DE which is mild; NAGA deficiency type III (Schindler disease type III)
DE characterized by mild-to-moderate neurologic manifestations. NAGA
DE deficiency results in the increased urinary excretion of glycopeptides
DE and oligosaccharides containing alpha-N-acetylgalactosaminyl moieties.
DE Inheritance is autosomal recessive.
DR MIM; 609241; phenotype.
DR MedGen; C1836544.
DR MedGen; C1836545.
DR MedGen; C1836546.
DR MedGen; C1836547.
//
ID Schinzel-Giedion midface retraction syndrome.
AC DI-02836
AR SGMFS.
DE A disorder characterized by severe intellectual disability,
DE distinctive facial features, and multiple congenital malformations
DE including skeletal abnormalities, genitourinary and renal
DE malformations, cardiac defects, as well as a higher-than-normal
DE prevalence of tumors, notably neuroepithelial neoplasia.
DR MIM; 269150; phenotype.
DR MedGen; C0265227.
DR MedGen; C1849294.
DR MeSH; D000015.
DR MeSH; D008607.
//
ID Schizencephaly.
AC DI-02284
AR SCHZC.
DE Extremely rare human congenital disorder characterized by a full-
DE thickness cleft within the cerebral hemispheres. These clefts are
DE lined with gray matter and most commonly involve the parasylvian
DE regions. Large portions of the cerebral hemispheres may be absent and
DE replaced by cerebro-spinal fluid.
DR MIM; 269160; phenotype.
DR MedGen; C0266484.
//
ID Schizophrenia.
AC DI-03626
AR SCZD.
DE A complex, multifactorial psychotic disorder or group of disorders
DE characterized by disturbances in the form and content of thought (e.g.
DE delusions, hallucinations), in mood (e.g. inappropriate affect), in
DE sense of self and relationship to the external world (e.g. loss of ego
DE boundaries, withdrawal), and in behavior (e.g bizarre or apparently
DE purposeless behavior). Although it affects emotions, it is
DE distinguished from mood disorders in which such disturbances are
DE primary. Similarly, there may be mild impairment of cognitive
DE function, and it is distinguished from the dementias in which
DE disturbed cognitive function is considered primary. Some patients
DE manifest schizophrenic as well as bipolar disorder symptoms and are
DE often given the diagnosis of schizoaffective disorder.
SY Schizophrenia with or without an affective disorder.
DR MIM; 181500; phenotype.
DR MedGen; C0036337.
DR MedGen; C0036341.
DR MeSH; D012559.
KW KW-1211:Schizophrenia.
//
ID Schizophrenia 15.
AC DI-03101
AR SCZD15.
DE A complex, multifactorial psychotic disorder or group of disorders
DE characterized by disturbances in the form and content of thought (e.g.
DE delusions, hallucinations), in mood (e.g. inappropriate affect), in
DE sense of self and relationship to the external world (e.g. loss of ego
DE boundaries, withdrawal), and in behavior (e.g bizarre or apparently
DE purposeless behavior). Although it affects emotions, it is
DE distinguished from mood disorders in which such disturbances are
DE primary. Similarly, there may be mild impairment of cognitive
DE function, and it is distinguished from the dementias in which
DE disturbed cognitive function is considered primary. Some patients
DE manifest schizophrenic as well as bipolar disorder symptoms and are
DE often given the diagnosis of schizoaffective disorder.
SY Schizophrenia 15 with or without an affective disorder.
SY Schizophrenia susceptibility locus chromosome 22q13-related.
DR MIM; 613950; phenotype.
DR MedGen; C3151380.
DR MeSH; D012559.
KW KW-1211:Schizophrenia.
//
ID Schizophrenia 17.
AC DI-03303
AR SCZD17.
DE A complex, multifactorial psychotic disorder or group of disorders
DE characterized by disturbances in the form and content of thought (e.g.
DE delusions, hallucinations), in mood (e.g. inappropriate affect), in
DE sense of self and relationship to the external world (e.g. loss of ego
DE boundaries, withdrawal), and in behavior (e.g bizarre or apparently
DE purposeless behavior). Although it affects emotions, it is
DE distinguished from mood disorders in which such disturbances are
DE primary. Similarly, there may be mild impairment of cognitive
DE function, and it is distinguished from the dementias in which
DE disturbed cognitive function is considered primary. Some patients
DE manifest schizophrenic as well as bipolar disorder symptoms and are
DE often given the diagnosis of schizoaffective disorder.
SY Schizophrenia susceptibility locus chromosome 2p16-related.
DR MIM; 614332; phenotype.
DR MedGen; C3280524.
DR MeSH; D012559.
KW KW-1211:Schizophrenia.
//
ID Schizophrenia 18.
AC DI-03726
AR SCZD18.
DE A complex, multifactorial psychotic disorder or group of disorders
DE characterized by disturbances in the form and content of thought (e.g.
DE delusions, hallucinations), in mood (e.g. inappropriate affect), in
DE sense of self and relationship to the external world (e.g. loss of ego
DE boundaries, withdrawal), and in behavior (e.g bizarre or apparently
DE purposeless behavior). Although it affects emotions, it is
DE distinguished from mood disorders in which such disturbances are
DE primary. Similarly, there may be mild impairment of cognitive
DE function, and it is distinguished from the dementias in which
DE disturbed cognitive function is considered primary. Some patients
DE manifest schizophrenic as well as bipolar disorder symptoms and are
DE often given the diagnosis of schizoaffective disorder.
SY Schizophrenia 18 with or without an affective disorder.
DR MIM; 615232; phenotype.
DR MedGen; C3808913.
DR MedGen; CN169674.
DR MeSH; D012559.
KW KW-1211:Schizophrenia.
//
ID Schizophrenia 19.
AC DI-05073
AR SCZD19.
DE A complex, multifactorial psychotic disorder or group of disorders
DE characterized by disturbances in the form and content of thought (e.g.
DE delusions, hallucinations), in mood (e.g. inappropriate affect), in
DE sense of self and relationship to the external world (e.g. loss of ego
DE boundaries, withdrawal), and in behavior (e.g bizarre or apparently
DE purposeless behavior). Although it affects emotions, it is
DE distinguished from mood disorders in which such disturbances are
DE primary. Similarly, there may be mild impairment of cognitive
DE function, and it is distinguished from the dementias in which
DE disturbed cognitive function is considered primary. Some patients
DE manifest schizophrenic as well as bipolar disorder symptoms and are
DE often given the diagnosis of schizoaffective disorder.
SY Schizophrenia 19 with or without an affective disorder.
DR MIM; 617629; phenotype.
DR MedGen; CN404275.
DR MeSH; D012559.
KW KW-1211:Schizophrenia.
//
ID Schizophrenia 2.
AC DI-02511
AR SCZD2.
DE A complex, multifactorial psychotic disorder or group of disorders
DE characterized by disturbances in the form and content of thought (e.g.
DE delusions, hallucinations), in mood (e.g. inappropriate affect), in
DE sense of self and relationship to the external world (e.g. loss of ego
DE boundaries, withdrawal), and in behavior (e.g bizarre or apparently
DE purposeless behavior). Although it affects emotions, it is
DE distinguished from mood disorders in which such disturbances are
DE primary. Similarly, there may be mild impairment of cognitive
DE function, and it is distinguished from the dementias in which
DE disturbed cognitive function is considered primary. Some patients
DE manifest schizophrenic as well as bipolar disorder symptoms and are
DE often given the diagnosis of schizoaffective disorder.
SY Schizophrenia susceptibility locus chromosome 11q-related.
DR MIM; 603342; phenotype.
DR MedGen; C1864010.
DR MeSH; D012559.
KW KW-1211:Schizophrenia.
//
ID Schizophrenia 4.
AC DI-02512
AR SCZD4.
DE A complex, multifactorial psychotic disorder or group of disorders
DE characterized by disturbances in the form and content of thought (e.g.
DE delusions, hallucinations), in mood (e.g. inappropriate affect), in
DE sense of self and relationship to the external world (e.g. loss of ego
DE boundaries, withdrawal), and in behavior (e.g bizarre or apparently
DE purposeless behavior). Although it affects emotions, it is
DE distinguished from mood disorders in which such disturbances are
DE primary. Similarly, there may be mild impairment of cognitive
DE function, and it is distinguished from the dementias in which
DE disturbed cognitive function is considered primary. Some patients
DE manifest schizophrenic as well as bipolar disorder symptoms and are
DE often given the diagnosis of schizoaffective disorder.
SY Schizophrenia susceptibility locus chromosome 22-related.
DR MIM; 600850; phenotype.
DR MedGen; C1833247.
DR MeSH; D012559.
KW KW-1211:Schizophrenia.
//
ID Schizophrenia 9.
AC DI-02510
AR SCZD9.
DE A complex, multifactorial psychotic disorder or group of disorders
DE characterized by disturbances in the form and content of thought (e.g.
DE delusions, hallucinations), in mood (e.g. inappropriate affect), in
DE sense of self and relationship to the external world (e.g. loss of ego
DE boundaries, withdrawal), and in behavior (e.g bizarre or apparently
DE purposeless behavior). Although it affects emotions, it is
DE distinguished from mood disorders in which such disturbances are
DE primary. Similarly, there may be mild impairment of cognitive
DE function, and it is distinguished from the dementias in which
DE disturbed cognitive function is considered primary. Some patients
DE manifest schizophrenic as well as bipolar disorder symptoms and are
DE often given the diagnosis of schizoaffective disorder.
SY Schizophrenia susceptibility locus chromosome 1q-related.
DR MIM; 604906; phenotype.
DR MedGen; C1858050.
DR MeSH; D012559.
KW KW-1211:Schizophrenia.
//
ID Schmid type metaphyseal chondrodysplasia.
AC DI-02285
AR SMCD.
DE Dominantly inherited disorder of the osseous skeleton. The cardinal
DE features of the phenotype are mild short stature, coxa vara and a
DE waddling gait. Radiography usually shows sclerosis of the ribs,
DE flaring of the metaphyses, and a wide irregular growth plate,
DE especially of the knees. A variant form of SMCD is spondylometaphyseal
DE dysplasia Japanese type. It is characterized by spinal involvement
DE comprising mild platyspondyly, vertebral body abnormalities, and end-
DE plate irregularity.
DR MIM; 156500; phenotype.
DR MedGen; C0265289.
//
ID Schneckenbecken dysplasia.
AC DI-02286
AR SHNKND.
DE A rare, lethal autosomal recessive skeletal dysplasia characterized by
DE snail-like configuration of the hypoplastic iliac bone, short-limbed
DE dwarfism, short ribs, and flattened, hypoplastic vertebral bodies.
DE SHNKND is lethal in the neonatal period.
SY Chondrodysplasia, lethal neonatal, with snail-like pelvis.
DR MIM; 269250; phenotype.
DR MedGen; C0432194.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Schopf-Schulz-Passarge syndrome.
AC DI-02494
AR SSPS.
DE A rare ectodermal dysplasia, characterized chiefly by cysts of the
DE eyelid margins, palmoplantar keratoderma, hypodontia, hypotrichosis
DE and nail dystrophy. Multiple eyelid apocrine hidrocystomas are the
DE hallmark of this condition, although they usually appear in adulthood.
DE The concomitant presence of eccrine syringofibroadenoma in most
DE patients and of other adnexal skin tumors in some affected subjects
DE indicates that Schopf-Schulz-Passarge syndrome is a genodermatosis
DE with skin appendage neoplasms.
SY Eccrine tumors with ectodermal dysplasia.
SY Keratosis palmoplantaris with cystic eyelids, hypodontia and hypotrichosis.
DR MIM; 224750; phenotype.
DR MedGen; C1857069.
DR MeSH; D004476.
KW KW-0038:Ectodermal dysplasia.
KW KW-1007:Palmoplantar keratoderma.
KW KW-1063:Hypotrichosis.
//
ID Schuurs-Hoeijmakers syndrome.
AC DI-03667
AR SHMS.
DE An autosomal dominant intellectual developmental disorder
DE characterized by intellectual disability in combination with distinct
DE craniofacial features and genital abnormalities.
SY Intellectual developmental disorder, autosomal dominant 17.
SY MRD17.
DR MIM; 615009; phenotype.
DR MedGen; C3554343.
DR MedGen; CN164257.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Schwannomatosis 1.
AC DI-02287
AR SWNTS1.
DE A cancer syndrome in which patients develop multiple non-vestibular
DE schwannomas, benign neoplasms that arise from Schwann cells of the
DE cranial, peripheral, and autonomic nerves.
SY Congenital cutaneous neurilemmomatosis.
DR MIM; 162091; phenotype.
DR MedGen; C1335929.
DR MeSH; D009442.
//
ID Schwannomatosis 2.
AC DI-04051
AR SWNTS2.
DE A cancer predisposition syndrome in which patients develop multiple
DE non-vestibular schwannomas, benign neoplasms that arise from Schwann
DE cells of the cranial, peripheral, and autonomic nerves.
DR MIM; 615670; phenotype.
DR MedGen; C3810283.
DR MedGen; CN185295.
DR MeSH; D009442.
//
ID Schwartz-Jampel syndrome.
AC DI-02288
AR SJS1.
DE Rare autosomal recessive disorder characterized by permanent myotonia
DE (prolonged failure of muscle relaxation) and skeletal dysplasia,
DE resulting in reduced stature, kyphoscoliosis, bowing of the diaphyses
DE and irregular epiphyses.
DR MIM; 255800; phenotype.
DR MedGen; C0036391.
//
ID Sclerosing cholangitis, neonatal.
AC DI-04970
AR NSC.
DE An autosomal recessive form of liver disease with onset in infancy.
DE Affected infants have jaundice, cholestasis, acholic stools, and
DE progressive liver dysfunction resulting in fibrosis and cirrhosis.
DE Cholangiography shows patent biliary ducts, but there are bile duct
DE irregularities.
DR MIM; 617394; phenotype.
DR MedGen; CN241830.
DR MeSH; D015209.
//
ID Sclerosteosis 1.
AC DI-01007
AR SOST1.
DE An autosomal recessive sclerosing bone dysplasia characterized by a
DE generalized hyperostosis and sclerosis leading to a markedly thickened
DE skull, with mandible, ribs, clavicles and all long bones also being
DE affected. Due to narrowing of the foramina of the cranial nerves,
DE facial nerve palsy, hearing loss and atrophy of the optic nerves can
DE occur. Sclerosteosis is clinically and radiologically very similar to
DE van Buchem disease, mainly differentiated by hand malformations and a
DE large stature in sclerosteosis patients.
SY Cortical hyperostosis with syndactyly.
SY Sclerosteosis.
SY SOST.
DR MIM; 269500; phenotype.
DR MedGen; C0265301.
DR MeSH; D015576.
//
ID Sclerosteosis 2.
AC DI-03282
AR SOST2.
DE A sclerosing bone dysplasia characterized by a generalized
DE hyperostosis and sclerosis leading to a markedly thickened skull, with
DE mandible, ribs, clavicles and all long bones also being affected. Due
DE to narrowing of the foramina of the cranial nerves, facial nerve
DE palsy, hearing loss and atrophy of the optic nerves can occur.
DE Sclerosteosis is clinically and radiologically very similar to van
DE Buchem disease, mainly differentiated by hand malformations and a
DE large stature in sclerosteosis patients.
DR MIM; 614305; phenotype.
DR MedGen; C3280402.
DR MeSH; D015576.
//
ID Scott syndrome.
AC DI-03017
AR SCTS.
DE A mild bleeding disorder due to impaired surface exposure of
DE procoagulant phosphatidylserine (PS) on platelets and other blood
DE cells, following activation with Ca(2+)-elevating agents.
SY BDPLT7.
SY Bleeding abnormality due to deficiency of platelet binding of factor X.
SY Bleeding disorder platelet-type 7.
SY Prothrombin consumption deficiency.
SY Prothrombin consumption inhibitor familial.
SY Prothrombin conversion defect familial.
DR MIM; 262890; phenotype.
DR MedGen; C0796149.
DR MeSH; D006470.
//
ID Sd(a) polyagglutination syndrome.
AC DI-06283
AR SDPS.
DE A condition characterized by red blood cells agglutination upon
DE exposure to almost all human sera, but not to autologous serum or the
DE sera of newborns. The condition becomes apparent during blood typing
DE and cross-matching in the laboratory. SDPS depends on the strength of
DE expression of the Sd(a) antigen on red blood cells. Most people have
DE weak anti-Sd(a) antibodies in their serum, which is usually of no
DE clinical importance, but can result in red cell agglutination if they
DE are transfused with cells showing strong Sd(a) expression.
DR MIM; 615018; phenotype.
DR MedGen; CN305190.
//
ID Sea-blue histiocyte disease.
AC DI-02290
AR SBHD.
DE Characterized by splenomegaly, mild thrombocytopenia and, in the bone
DE marrow, numerous histiocytes containing cytoplasmic granules which
DE stain bright blue with the usual hematologic stains. The syndrome is
DE the consequence of an inherited metabolic defect analogous to Gaucher
DE disease and other sphingolipidoses.
SY Sea-blue histiocytosis.
DR MIM; 269600; phenotype.
DR MedGen; C0036489.
//
ID Seborrhea-like dermatitis with psoriasiform elements.
AC DI-02292
AR SLDP.
DE Characterized by a chronic fine diffuse scaly erythematous rash on the
DE face, particularly on the chin, nasolabial folds and eyebrows, around
DE earlobes and over the scalp. The rash exacerbate in the winter, with
DE emotional stress and after strenuous physical activity. Hyperkeratosis
DE of skin over the elbows, knees, palms, soles and metacarpophalangeal
DE joints is evident. There is no arthralgia, arthritis or neurological
DE disorders.
DR MIM; 610227; phenotype.
DR MedGen; C1853258.
//
ID Seckel syndrome 1.
AC DI-01008
AR SCKL1.
DE A rare autosomal recessive disorder characterized by proportionate
DE dwarfism of prenatal onset associated with low birth weight, growth
DE retardation, severe microcephaly with a bird-headed like appearance,
DE and intellectual disability.
SY Bird-headed dwarfism.
SY Microcephalic primordial dwarfism I.
SY Nanocephalic dwarfism.
SY Seckel-type dwarfism.
DR MIM; 210600; phenotype.
DR MedGen; C0265202.
DR MeSH; D004392.
DR MeSH; D008831.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
//
ID Seckel syndrome 10.
AC DI-04892
AR SCKL10.
DE A form of Seckel syndrome, a rare autosomal recessive disorder
DE characterized by proportionate dwarfism of prenatal onset associated
DE with low birth weight, growth retardation, severe microcephaly with a
DE bird-headed like appearance, and intellectual disability.
DR MIM; 617253; phenotype.
DR MedGen; CN239567.
DR MeSH; D004392.
DR MeSH; D008831.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
//
ID Seckel syndrome 2.
AC DI-03353
AR SCKL2.
DE A rare autosomal recessive disorder characterized by proportionate
DE dwarfism of prenatal onset associated with low birth weight, growth
DE retardation, severe microcephaly with a bird-headed like appearance,
DE and intellectual disability.
SY Bird-headed dwarfism 2.
SY Microcephalic primordial dwarfism 2.
SY Seckel-type dwarfism 2.
DR MIM; 606744; phenotype.
DR MedGen; C1847572.
DR MeSH; D004392.
DR MeSH; D008831.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
//
ID Seckel syndrome 4.
AC DI-02948
AR SCKL4.
DE A rare autosomal recessive disorder characterized by proportionate
DE dwarfism of prenatal onset associated with low birth weight, growth
DE retardation, severe microcephaly with a bird-headed like appearance,
DE and intellectual disability.
DR MIM; 613676; phenotype.
DR MedGen; CN074082.
DR MeSH; D004392.
DR MeSH; D008831.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
//
ID Seckel syndrome 5.
AC DI-03060
AR SCKL5.
DE A rare autosomal recessive disorder characterized by proportionate
DE dwarfism of prenatal onset associated with low birth weight, growth
DE retardation, severe microcephaly with a bird-headed like appearance,
DE and intellectual disability.
DR MIM; 613823; phenotype.
DR MedGen; C3151187.
DR MeSH; D004392.
DR MeSH; D008831.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
//
ID Seckel syndrome 6.
AC DI-03484
AR SCKL6.
DE A rare autosomal recessive disorder characterized by proportionate
DE dwarfism of prenatal onset associated with low birth weight, growth
DE retardation, severe microcephaly with a bird-headed like appearance,
DE and intellectual disability.
DR MIM; 614728; phenotype.
DR MedGen; C3553582.
DR MedGen; CN130471.
DR MeSH; D004392.
DR MeSH; D008831.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
//
ID Seckel syndrome 7.
AC DI-03545
AR SCKL7.
DE A rare autosomal recessive disorder characterized by proportionate
DE dwarfism of prenatal onset associated with low birth weight, growth
DE retardation, severe microcephaly with a bird-headed like appearance,
DE and intellectual disability.
DR MIM; 614851; phenotype.
DR MedGen; C3553870.
DR MedGen; CN158704.
DR MeSH; D004392.
DR MeSH; D008831.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
//
ID Seckel syndrome 8.
AC DI-04089
AR SCKL8.
DE A rare autosomal recessive disorder characterized by proportionate
DE dwarfism of prenatal onset associated with low birth weight, growth
DE retardation, severe microcephaly with a bird-headed like appearance,
DE and intellectual disability.
DR MIM; 615807; phenotype.
DR MedGen; CN188187.
DR MeSH; D004392.
DR MeSH; D008831.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
//
ID Seckel syndrome 9.
AC DI-04640
AR SCKL9.
DE A form of Seckel syndrome, a rare autosomal recessive disorder
DE characterized by proportionate dwarfism of prenatal onset associated
DE with low birth weight, growth retardation, severe microcephaly with a
DE bird-headed like appearance, and intellectual disability.
DR MIM; 616777; phenotype.
DR MedGen; CN235015.
DR MeSH; D004392.
DR MeSH; D008831.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
//
ID Sedoheptulokinase deficiency.
AC DI-04872
AR SHPKD.
DE An autosomal recessive metabolic disease characterized by increased
DE urinary erythritol and sedoheptulose. Neonatal cholestasis,
DE hypoglycemia, anemia, congenital arthrogryposis multiplex, multiple
DE contractures and dysmorphisms have been reported in SHPKD patients,
DE but the relationship of these features to the SHPKD is unclear.
DR MIM; 617213; phenotype.
DR MedGen; CN239115.
DR MeSH; D008661.
//
ID Segawa syndrome autosomal recessive.
AC DI-00410
AR ARSEGS.
DE A form of DOPA-responsive dystonia presenting in infancy or early
DE childhood. Dystonia is defined by the presence of sustained
DE involuntary muscle contractions, often leading to abnormal postures.
DE Some cases present with parkinsonian symptoms in infancy. Unlike all
DE other forms of dystonia, it is an eminently treatable condition, due
DE to a favorable response to L-DOPA.
SY Autosomal recessive DOPA-responsive dystonia.
SY Autosomal recessive infantile parkinsonism.
SY Dystonia, DOPA-responsive, autosomal recessive.
SY THD.
SY Tyrosine hydroxylase deficiency.
DR MIM; 605407; phenotype.
DR MedGen; C1854299.
DR MeSH; D020734.
KW KW-0908:Parkinsonism.
KW KW-1023:Dystonia.
//
ID Seizures, benign familial infantile, 2.
AC DI-03373
AR BFIS2.
DE A form of benign familial infantile epilepsy, a neurologic disorder
DE characterized by afebrile seizures occurring in clusters during the
DE first year of life, without neurologic sequelae. BFIS2 inheritance is
DE autosomal dominant.
SY Benign familial infantile convulsions 2.
SY BFIC2.
DR MIM; 605751; phenotype.
DR MedGen; C1853995.
DR MeSH; D020936.
KW KW-0887:Epilepsy.
//
ID Seizures, benign familial infantile, 3.
AC DI-00181
AR BFIS3.
DE A form of benign familial infantile epilepsy, a neurologic disorder
DE characterized by afebrile seizures occurring in clusters during the
DE first year of life, without neurologic sequelae. BFIS3 inheritance is
DE autosomal dominant.
SY Benign familial infantile convulsions 3.
SY Benign familial neonatal-infantile epilepsy.
SY Benign familial neonatal-infantile seizures.
SY BFIC3.
SY BFNIS.
DR MIM; 607745; phenotype.
DR MedGen; C1843140.
DR MeSH; D020936.
KW KW-0887:Epilepsy.
//
ID Seizures, benign familial infantile, 5.
AC DI-04807
AR BFIS5.
DE A form of benign familial infantile epilepsy, a neurologic disorder
DE characterized by afebrile seizures occurring in clusters during the
DE first year of life, without neurologic sequelae. BFIS5 inheritance is
DE autosomal dominant.
SY Benign familial infantile convulsions 5.
DR MIM; 617080; phenotype.
DR MedGen; CN238089.
DR MeSH; D020936.
KW KW-0887:Epilepsy.
//
ID Seizures, benign familial infantile, 6.
AC DI-05284
AR BFIS6.
DE A form of benign familial infantile epilepsy, a neurologic disorder
DE characterized by afebrile seizures occurring in clusters during the
DE first year of life, without neurologic sequelae. BFIS6 inheritance is
DE autosomal dominant.
SY BFIC6.
SY Convulsions, benign familial infantile, 6.
DR MIM; 610353; phenotype.
DR MedGen; CN244555.
DR MeSH; D020936.
KW KW-0887:Epilepsy.
//
ID Seizures, benign familial neonatal 1.
AC DI-00182
AR BFNS1.
DE A disorder characterized by clusters of seizures occurring in the
DE first days of life. Most patients have spontaneous remission by 12
DE months of age and show normal psychomotor development. Some rare cases
DE manifest an atypical severe phenotype associated with epileptic
DE encephalopathy and psychomotor retardation. The disorder is
DE distinguished from benign familial infantile seizures by an earlier
DE age at onset. In some patients, neonatal convulsions are followed
DE later in life by myokymia, a benign condition characterized by
DE spontaneous involuntary contractions of skeletal muscles fiber groups
DE that can be observed as vermiform movement of the overlying skin.
DE Electromyography typically shows continuous motor unit activity with
DE spontaneous oligo- and multiplet-discharges of high intraburst
DE frequency (myokymic discharges). Some patients may have isolated
DE myokymia.
SY Benign familial neonatal convulsions 1.
SY Benign neonatal epilepsy 1.
SY Benign neonatal epilepsy 1 and/or myokymia.
SY Benign neonatal epilepsy 1 with myokymia.
SY Benign neonatal epilepsy atypical severe.
SY BFNC/myokymia syndrome.
SY BFNC1.
SY Convulsions benign familial neonatal 1 with myokymia.
SY EBN1.
SY Myokymia isolated.
SY Myokymia with neonatal epilepsy.
DR MIM; 121200; phenotype.
DR MedGen; C1852587.
DR MedGen; C2751195.
DR MedGen; C3149074.
DR MedGen; C3149075.
DR MeSH; D020385.
DR MeSH; D020936.
KW KW-0887:Epilepsy.
//
ID Seizures, benign familial neonatal 2.
AC DI-00183
AR BFNS2.
DE A disorder characterized by clusters of seizures occurring in the
DE first days of life. Most patients have spontaneous remission by 12
DE months of age and show normal psychomotor development. The disorder is
DE distinguished from benign familial infantile seizures by an earlier
DE age at onset.
SY Benign familial neonatal convulsions type 2.
SY Benign neonatal epilepsy 2.
SY BFNC2.
SY EBN2.
DR MIM; 121201; phenotype.
DR MedGen; C1852581.
DR MeSH; D020936.
KW KW-0887:Epilepsy.
//
ID Seizures, cortical blindness, and microcephaly syndrome.
AC DI-04572
AR SCBMS.
DE A severe autosomal recessive neurodevelopmental disorder characterized
DE by microcephaly, early-onset seizures, severely delayed psychomotor
DE development, short stature, and cortical blindness.
DR MIM; 616632; phenotype.
DR MedGen; CN233219.
DR MeSH; D008831.
DR MeSH; D012640.
DR MeSH; D019575.
KW KW-0887:Epilepsy.
//
ID Seizures, early-onset, with neurodegeneration and brain calcification.
AC DI-05833
AR SENEBAC.
DE An autosomal recessive neurodegenerative disorder clinically
DE characterized by refractory seizures apparent in the first year of
DE life, mild early developmental delay, and developmental regression
DE after seizure onset. Other features include hypotonia, hyperreflexia,
DE peripheral spasticity, poor eye contact, absent speech, poor head
DE control, and inability to walk. Brain imaging shows reduced white
DE matter volume with delayed myelination, and punctate calcifications.
DR MIM; 618875; phenotype.
DR MedGen; CN280930.
DR MeSH; D004827.
DR MeSH; D019636.
KW KW-0523:Neurodegeneration.
KW KW-0887:Epilepsy.
//
ID Seizures, scoliosis, and macrocephaly/microcephaly syndrome.
AC DI-04595
AR SSMS.
DE An autosomal recessive syndrome characterized by seizures,
DE intellectual disability, hypotonia, scoliosis, macrocephaly,
DE hypertelorism and renal dysfunction.
SY Seizures-scoliosis-macrocephaly syndrome.
DR MIM; 616682; phenotype.
DR MedGen; CN234668.
DR MeSH; D000015.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance.
AC DI-02543
AR SESAMES.
DE A complex disorder characterized by generalized seizures with onset in
DE infancy, delayed psychomotor development, ataxia, sensorineural
DE hearing loss, hypokalemia, metabolic alkalosis, and hypomagnesemia.
SY EAST syndrome.
SY Epilepsy ataxia sensorineural deafness and tubulopathy.
SY SESAME syndrome.
DR MIM; 612780; phenotype.
DR MedGen; C2748572.
DR MeSH; D006319.
DR MeSH; D008607.
DR MeSH; D012640.
KW KW-0209:Deafness.
KW KW-0991:Intellectual disability.
//
ID Selective pituitary thyroid hormone resistance.
AC DI-02294
AR PRTH.
DE Variant form of thyroid hormone resistance and is characterized by
DE clinical hyperthyroidism, with elevated free thyroid hormones, but
DE inappropriately normal serum TSH. Unlike GRTH, where the syndrome
DE usually segregates with a dominant allele, the mode of inheritance in
DE PRTH has not been established.
SY Familial hyperthyroidism due to inappropriate thyrotropin secretion.
DR MIM; 145650; phenotype.
DR MedGen; C1840364.
//
ID Senior-Loken syndrome 1.
AC DI-01009
AR SLSN1.
DE A renal-retinal disorder characterized by progressive wasting of the
DE filtering unit of the kidney (nephronophthisis), with or without
DE medullary cystic renal disease, and progressive eye disease. Typically
DE this disorder becomes apparent during the first year of life.
SY Juvenile nephronophthisis with Leber amaurosis.
SY Renal dysplasia and retinal aplasia.
DR MIM; 266900; phenotype.
DR MedGen; C0403553.
DR MeSH; D052177.
DR MeSH; D057130.
KW KW-0901:Leber congenital amaurosis.
KW KW-0980:Senior-Loken syndrome.
KW KW-0983:Nephronophthisis.
//
ID Senior-Loken syndrome 4.
AC DI-01010
AR SLSN4.
DE A renal-retinal disorder characterized by progressive wasting of the
DE filtering unit of the kidney (nephronophthisis), with or without
DE medullary cystic renal disease, and progressive eye disease. Typically
DE this disorder becomes apparent during the first year of life.
DR MIM; 606996; phenotype.
DR MedGen; C1846979.
DR MeSH; D052177.
DR MeSH; D057130.
KW KW-0901:Leber congenital amaurosis.
KW KW-0980:Senior-Loken syndrome.
KW KW-0983:Nephronophthisis.
//
ID Senior-Loken syndrome 5.
AC DI-01011
AR SLSN5.
DE A renal-retinal disorder characterized by progressive wasting of the
DE filtering unit of the kidney (nephronophthisis), with or without
DE medullary cystic renal disease, and progressive eye disease. Typically
DE this disorder becomes apparent during the first year of life.
DR MIM; 609254; phenotype.
DR MedGen; C1836517.
DR MeSH; D052177.
DR MeSH; D057130.
KW KW-0901:Leber congenital amaurosis.
KW KW-0980:Senior-Loken syndrome.
KW KW-0983:Nephronophthisis.
//
ID Senior-Loken syndrome 6.
AC DI-01012
AR SLSN6.
DE A renal-retinal disorder characterized by progressive wasting of the
DE filtering unit of the kidney (nephronophthisis), with or without
DE medullary cystic renal disease, and progressive eye disease. Typically
DE this disorder becomes apparent during the first year of life.
DR MIM; 610189; phenotype.
DR MedGen; C1857779.
DR MeSH; D052177.
DR MeSH; D057130.
KW KW-0901:Leber congenital amaurosis.
KW KW-0980:Senior-Loken syndrome.
KW KW-0983:Nephronophthisis.
//
ID Senior-Loken syndrome 7.
AC DI-02941
AR SLSN7.
DE A renal-retinal disorder characterized by progressive wasting of the
DE filtering unit of the kidney (nephronophthisis), with or without
DE medullary cystic renal disease, and progressive eye disease. Typically
DE this disorder becomes apparent during the first year of life.
DR MIM; 613615; phenotype.
DR MedGen; C3150877.
DR MeSH; D052177.
DR MeSH; D057130.
KW KW-0901:Leber congenital amaurosis.
KW KW-0980:Senior-Loken syndrome.
KW KW-0983:Nephronophthisis.
//
ID Senior-Loken syndrome 8.
AC DI-04390
AR SLSN8.
DE A renal-retinal disorder characterized by progressive wasting of the
DE filtering unit of the kidney (nephronophthisis), with or without
DE medullary cystic renal disease, and progressive eye disease. Typically
DE this disorder becomes apparent during the first year of life.
DR MIM; 616307; phenotype.
DR MedGen; CN229500.
DR MeSH; D052177.
DR MeSH; D057130.
KW KW-0901:Leber congenital amaurosis.
KW KW-0980:Senior-Loken syndrome.
KW KW-0983:Nephronophthisis.
//
ID Senior-Loken syndrome 9.
AC DI-04575
AR SLSN9.
DE A renal-retinal disorder characterized by progressive wasting of the
DE filtering unit of the kidney (nephronophthisis), with or without
DE medullary cystic renal disease, and progressive eye disease. Typically
DE this disorder becomes apparent during the first year of life.
DR MIM; 616629; phenotype.
DR MedGen; CN229792.
DR MeSH; D052177.
DR MeSH; D057130.
KW KW-0901:Leber congenital amaurosis.
KW KW-0980:Senior-Loken syndrome.
KW KW-0983:Nephronophthisis.
//
ID Sensory ataxic neuropathy dysarthria and ophthalmoparesis.
AC DI-01014
AR SANDO.
DE A systemic disorder resulting from mitochondrial dysfunction
DE associated with mitochondrial depletion in skeletal muscle and
DE peripheral nerve tissue. The clinical triad of symptoms consists of
DE sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. However,
DE the phenotype varies widely, even within the same family, and can also
DE include myopathy, seizures, and hearing loss.
SY MIRAS.
SY Mitochondrial recessive ataxia syndrome.
SY Mitochondrial spinocerebellar ataxia-epilepsy syndrome.
SY MSCAE.
SY SCAE.
SY Sensory ataxic neuropathy with mitochondrial DNA deletions autosomal recessive.
SY Spinocerebellar ataxia with epilepsy.
DR MIM; 607459; phenotype.
DR MedGen; C1843851.
DR MedGen; C1843852.
DR MeSH; D015417.
KW KW-0622:Neuropathy.
KW KW-1274:Primary mitochondrial disease.
//
ID Septooptic dysplasia.
AC DI-02296
AR SOD.
DE A clinically heterogeneous disorder defined by any combination of
DE optic nerve hypoplasia, pituitary gland hypoplasia with
DE panhypopopituitarism, and midline abnormalities of the brain,
DE including absence of the corpus callosum and septum pellucidum.
SY de Morsier syndrome.
SY Septo-optic dysplasia with growth hormone deficiency.
DR MIM; 182230; phenotype.
DR MedGen; C0338503.
DR MeSH; D025962.
//
ID Sessile serrated polyposis cancer syndrome.
AC DI-04838
AR SSPCS.
DE A rare disease characterized by multiple and/or large serrated polyps
DE developing in the colon, and an increased personal and familial risk
DE of colorectal cancer. A patient is diagnosed with SSPCS if at least
DE one of the following criteria is met: the presence of at least five
DE sessile serrated polyps proximal to the sigmoid colon, two of which
DE are greater than 10 mm in diameter; the presence of any number of
DE serrated polyps occurring proximal to the sigmoid colon in an
DE individual who has a first-degree relative with serrated polyposis;
DE the presence of more than 20 serrated polyps of any size distributed
DE throughout the colon. Sessile serrated polyps are also known as
DE sessile serrated adenomas (SSA) and are estimated to be responsible
DE for 20 to 35% of all colon cancers. Individuals with SSPCS may have a
DE strong personal or family history of extracolonic cancers.
DR MIM; 617108; phenotype.
DR MedGen; CN238478.
DR MeSH; D003110.
//
ID Severe combined immunodeficiency Athabaskan type.
AC DI-01015
AR SCIDA.
DE A variety of SCID with sensitivity to ionizing radiation. A founder
DE mutation has been detected in Athabascan-speaking native Americans,
DE being inherited as an autosomal recessive trait. Affected individuals
DE exhibit clinical symptoms and defects in DNA repair comparable to
DE those seen in RS-SCID.
DR MIM; 602450; phenotype.
DR MedGen; C1865371.
DR MedGen; C1865372.
DR MeSH; D016511.
KW KW-0705:SCID.
//
ID Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency.
AC DI-01016
AR ADASCID.
DE An autosomal recessive disorder accounting for about 50% of non-X-
DE linked SCIDs. SCID refers to a genetically and clinically
DE heterogeneous group of rare congenital disorders characterized by
DE impairment of both humoral and cell-mediated immunity, leukopenia, and
DE low or absent antibody levels. Patients with SCID present in infancy
DE with recurrent, persistent infections by opportunistic organisms. The
DE common characteristic of all types of SCID is absence of T-cell-
DE mediated cellular immunity due to a defect in T-cell development. ADA
DE deficiency has been diagnosed in chronically ill teenagers and adults
DE (late or adult onset). Population and newborn screening programs have
DE also identified several healthy individuals with normal immunity who
DE have partial ADA deficiency.
SY ADA deficiency.
SY Adenosine deaminase deficiency.
SY SCID due to ADA deficiency.
SY Severe combined immunodeficiency autosomal recessive T-cell negative/B-cell negative/NK-cell negative due to adenosine deaminase deficiency.
SY Severe combined immunodeficiency autosomal recessive T-cell-negative/B cell-negative/NK cell-negative due to adenosine deaminase deficiency.
SY Severe combined immunodeficiency due to ADA deficiency.
DR MIM; 102700; phenotype.
DR MedGen; C1863236.
DR MedGen; C1863237.
DR MedGen; C1863238.
DR MedGen; C1863239.
DR MeSH; D016511.
KW KW-0705:SCID.
//
ID Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive.
AC DI-01019
AR T(-)B(-)NK(+) SCID.
DE A form of severe combined immunodeficiency (SCID), a genetically and
DE clinically heterogeneous group of rare congenital disorders
DE characterized by impairment of both humoral and cell-mediated
DE immunity, leukopenia, and low or absent antibody levels. Patients
DE present in infancy recurrent, persistent infections by opportunistic
DE organisms. The common characteristic of all types of SCID is absence
DE of T-cell-mediated cellular immunity due to a defect in T-cell
DE development.
SY SCID T cell-negative B cell-negative NK cell-positive.
SY Severe combined immunodeficiency autosomal recessive T cell-negative/B cell-negative/NK cell-positive.
SY Severe combined immunodeficiency autosomal recessive T-cell negative/B-cell negative/NK-cell positive.
DR MIM; 601457; phenotype.
DR MedGen; C1832322.
DR MeSH; D016511.
KW KW-0705:SCID.
//
ID Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation.
AC DI-01020
AR RSSCID.
DE A form of severe combined immunodeficiency, a genetically and
DE clinically heterogeneous group of rare congenital disorders
DE characterized by impairment of both humoral and cell-mediated
DE immunity, leukopenia, and low or absent antibody levels. Patients
DE present in infancy with recurrent, persistent infections by
DE opportunistic organisms. The common characteristic of all types of
DE SCID is absence of T-cell-mediated cellular immunity due to a defect
DE in T-cell development. Individuals affected by RS-SCID show defects in
DE the DNA repair machinery necessary for coding joint formation and the
DE completion of V(D)J recombination. A subset of cells from such
DE patients show increased radiosensitivity.
SY Athabascan SCID.
SY SCIDA.
SY Severe combined immunodeficiency with sensitivity to ionizing radiation.
DR MIM; 602450; phenotype.
DR MedGen; C1865370.
DR MeSH; D016511.
KW KW-0705:SCID.
//
ID Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative.
AC DI-01017
AR T(-)B(+)NK(-) SCID.
DE A form of severe combined immunodeficiency (SCID), a genetically and
DE clinically heterogeneous group of rare congenital disorders
DE characterized by impairment of both humoral and cell-mediated
DE immunity, leukopenia, and low or absent antibody levels. Patients
DE present in infancy recurrent, persistent infections by opportunistic
DE organisms. The common characteristic of all types of SCID is absence
DE of T-cell-mediated cellular immunity due to a defect in T-cell
DE development.
SY Severe combined immunodeficiency autosomal recessive T cell-negative/B cell-positive/NK cell-negative.
SY Severe combined immunodeficiency autosomal recessive T-cell negative/B-cell positive/NK-cell negative.
DR MIM; 600802; phenotype.
DR MedGen; C1833275.
DR MeSH; D016511.
KW KW-0705:SCID.
//
ID Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive.
AC DI-01018
AR T(-)B(+)NK(+) SCID.
DE A form of severe combined immunodeficiency (SCID), a genetically and
DE clinically heterogeneous group of rare congenital disorders
DE characterized by impairment of both humoral and cell-mediated
DE immunity, leukopenia, and low or absent antibody levels. Patients
DE present in infancy recurrent, persistent infections by opportunistic
DE organisms. The common characteristic of all types of SCID is absence
DE of T-cell-mediated cellular immunity due to a defect in T-cell
DE development.
SY SCIDBNK.
SY Severe combined immunodeficiency autosomal recessive T cell-negative/B cell-positive/NK cell-positive.
SY Severe combined immunodeficiency autosomal recessive T-cell negative/B-cell positive/NK-cell positive.
DR MIM; 608971; phenotype.
DR MedGen; C1837028.
DR MeSH; D016511.
KW KW-0705:SCID.
//
ID Severe combined immunodeficiency due to NHEJ1 deficiency.
AC DI-02297
AR NHEJ1-SCID.
DE SCID refers to a genetically and clinically heterogeneous group of
DE rare congenital disorders characterized by impairment of both humoral
DE and cell-mediated immunity, leukopenia and low or absent antibody
DE levels. Patients with SCID present in infancy with recurrent,
DE persistent infections by opportunistic organisms. The common
DE characteristic of all types of SCID is absence of T-cell-mediated
DE cellular immunity due to a defect in T-cell development. NHEJ1-SCID is
DE characterized by a profound T- and B-lymphocytopenia associated with
DE increased cellular sensitivity to ionizing radiation, microcephaly and
DE growth retardation. Some patients may manifest SCID with sensitivity
DE to ionizing radiation without microcephaly and mild growth
DE retardation, probably due to hypomorphic NHEJ1 mutations.
SY Autosomal recessive T-cell-negative, B cell-negative, NK cell-positive, severe combined immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation.
SY NHEJ1 syndrome.
DR MIM; 611291; phenotype.
DR MedGen; C1969799.
DR MedGen; C1969800.
//
ID Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative.
AC DI-01022
AR XSCID.
DE A form of severe combined immunodeficiency (SCID), a genetically and
DE clinically heterogeneous group of rare congenital disorders
DE characterized by impairment of both humoral and cell-mediated
DE immunity, leukopenia, and low or absent antibody levels. Patients
DE present in infancy recurrent, persistent infections by opportunistic
DE organisms. The common characteristic of all types of SCID is absence
DE of T-cell-mediated cellular immunity due to a defect in T-cell
DE development.
SY Agammaglobulinemia Swiss type.
SY IMD4.
SY Immunodeficiency 4.
SY SCIDX.
SY SCIDX1.
SY SCID X-linked.
SY Severe combined immunodeficiency X-linked T cell-negative/B cell-positive/NK cell-negative.
SY Severe combined immunodeficiency X-linked T-cell negative/B-cell positive/NK-cell negative.
DR MIM; 300400; phenotype.
DR MedGen; C1279481.
DR MedGen; C2931540.
DR MeSH; D016511.
KW KW-0705:SCID.
//
ID Shaheen syndrome.
AC DI-03822
AR SHNS.
DE An autosomal recessive syndrome characterized by severe intellectual
DE disability, hypohidrosis, dental enamel hypoplasia, and hyperkeratosis
DE of the palms and soles. Some may develop mild microcephaly.
DR MIM; 615328; phenotype.
DR MedGen; C3809160.
DR MedGen; CN178079.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Shashi-Pena syndrome.
AC DI-04877
AR SHAPNS.
DE An autosomal dominant syndrome characterized by delayed psychomotor
DE development, intellectual disability of variable severity,
DE macrocephaly, prominent eyes, arched eyebrows, hypertelorism, a
DE glabellar nevus flammeus, neonatal feeding difficulties, and
DE hypotonia. Some patients may also have atrial septal defect, episodic
DE hypoglycemia, changes in bone mineral density, and/or seizures.
DR MIM; 617190; phenotype.
DR MedGen; CN239057.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Short QT syndrome 1.
AC DI-01024
AR SQT1.
DE A heart disorder characterized by idiopathic persistently and
DE uniformly short QT interval on ECG in the absence of structural heart
DE disease in affected individuals. It causes syncope and sudden death.
DR MIM; 609620; phenotype.
DR MedGen; C1865020.
DR MeSH; D001145.
KW KW-0940:Short QT syndrome.
//
ID Short QT syndrome 2.
AC DI-01025
AR SQT2.
DE A heart disorder characterized by idiopathic persistently and
DE uniformly short QT interval on ECG in the absence of structural heart
DE disease in affected individuals. It causes syncope and sudden death.
DR MIM; 609621; phenotype.
DR MedGen; C1865019.
DR MeSH; D001145.
KW KW-0940:Short QT syndrome.
//
ID Short QT syndrome 3.
AC DI-01026
AR SQT3.
DE A heart disorder characterized by idiopathic persistently and
DE uniformly short QT interval on ECG in the absence of structural heart
DE disease in affected individuals. It causes syncope and sudden death.
DE SQT3 has a unique ECG phenotype characterized by asymmetrical T waves.
DR MIM; 609622; phenotype.
DR MedGen; C1865018.
DR MeSH; D001145.
KW KW-0940:Short QT syndrome.
//
ID Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans.
AC DI-02814
AR SSOAOD.
DE An autosomal dominant disease characterized by short stature, advanced
DE bone maturation, early-onset osteoarthritis, and mild dysmorphic
DE features consisting of midface hypoplasia, brachydactyly, broad great
DE toes, and lumbar lordosis. Other features include intervertebral disk
DE disease and osteochondritis dissecans. Osteochondritis dissecans is
DE defined as a separation of cartilage and subchondral bone from the
DE surrounding tissue.
SY Osteochondritis dissecans, short stature, and early-onset osteoarthritis.
DR MIM; 165800; phenotype.
DR MedGen; C0029421.
DR MedGen; C3665488.
DR MeSH; D010008.
KW KW-0242:Dwarfism.
//
ID Short stature and microcephaly with genital anomalies.
AC DI-05717
AR SSMGA.
DE An autosomal recessive disease characterized by growth failure
DE resulting in severe short stature, severe microcephaly, and delayed
DE and dissociated bone age. Additional features include global
DE psychomotor developmental delay, pubertal delay and genital anomalies.
DR MIM; 618702; phenotype.
DR MedGen; CN263059.
DR MeSH; D004392.
DR MeSH; D008831.
DR MeSH; D014564.
KW KW-0242:Dwarfism.
//
ID Short stature with microcephaly and distinctive facies.
AC DI-04112
AR SSMCF.
DE An autosomal recessive disease characterized by dwarfism,
DE microcephaly, and distinctive facial dysmorphism involving frontal
DE bossing, high forehead, sparse hair and eyebrows, telecanthus, mild
DE proptosis, anteverted nares, and flat nasal bridge.
DR MIM; 615789; phenotype.
DR MedGen; CN187049.
DR MeSH; D004392.
DR MeSH; D008831.
DR MeSH; D019066.
KW KW-0242:Dwarfism.
//
ID Short stature with non-specific skeletal abnormalities.
AC DI-04508
AR SNSK.
DE A condition characterized by short stature, defined as a height less
DE than 2 SD below normal, and no endocrine abnormalities.
DR MIM; 616255; phenotype.
DR MedGen; CN232354.
DR MeSH; D004392.
KW KW-0242:Dwarfism.
//
ID Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis.
AC DI-05512
AR SSASKS.
DE An autosomal recessive disorder characterized by disproportionate
DE short stature, defective tooth enamel formation, and skeletal
DE dysplasia with severe scoliosis in some patients. Variable features
DE include facial dysmorphism, hearing impairment, and mildly impaired
DE intellectual development.
DR MIM; 618363; phenotype.
DR MedGen; CN258254.
DR MeSH; D000567.
DR MeSH; D001848.
KW KW-0242:Dwarfism.
KW KW-0986:Amelogenesis imperfecta.
//
ID Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities.
AC DI-04071
AR SAMS.
DE An autosomal recessive developmental disorder with features of a first
DE and second branchial arch syndrome, and with unique rhizomelic
DE skeletal anomalies. Craniofacial abnormalities can lead to conductive
DE hearing loss, respiratory insufficiency, and feeding difficulties.
DE Skeletal features include bilateral humeral hypoplasia, humeroscapular
DE synostosis, pelvic abnormalities, and proximal defects of the femora.
DE Affected individuals may also have some features of a neurocristopathy
DE or abnormal mesoderm development, such as urogenital anomalies, that
DE are distinct from other branchial arch syndromes.
DR MIM; 602471; phenotype.
DR MedGen; C1865361.
DR MeSH; D001848.
KW KW-0242:Dwarfism.
//
ID Short stature, brachydactyly, impaired intellectual developmental, and seizures.
AC DI-04865
AR SBIDDS.
DE An autosomal recessive disease characterized by developmental delay,
DE learning disabilities, mild intellectual disability, delayed speech,
DE and skeletal abnormalities. Skeletal features include short stature,
DE brachydactyly, and short metacarpals and metatarsals.
SY Short stature, brachydactyly, intellectual developmental disability, and seizures.
DR MIM; 617157; phenotype.
DR MedGen; CN238697.
DR MeSH; D001847.
DR MeSH; D065886.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
//
ID Short stature, Dauber-Argente type.
AC DI-06211
AR SSDA.
DE An autosomal recessive disorder characterized by progressive postnatal
DE growth failure, moderate microcephaly, thin long bones, mildly
DE decreased bone density, and elevated serum levels of total IGF1,
DE IGFBP3 and IGFBP5. Levels of circulating free IGF1 are reduced.
DR MIM; 619489; phenotype.
DR MedGen; CN300348.
DR MeSH; D004392.
KW KW-0242:Dwarfism.
//
ID Short stature, developmental delay, and congenital heart defects.
AC DI-04769
AR SDDHD.
DE An autosomal recessive syndrome characterized by short stature,
DE developmental delay, intellectual disability and congenital heart
DE defects including ventricular septal defect, atrial septal defect and
DE patent foramen ovale. Cataract and uveitis are observed in some
DE patients.
SY TKT deficiency.
SY Transketolase deficiency.
DR MIM; 617044; phenotype.
DR MedGen; CN237416.
DR MeSH; D004392.
DR MeSH; D006330.
DR MeSH; D065886.
KW KW-0242:Dwarfism.
//
ID Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies.
AC DI-05196
AR SSFSC.
DE An autosomal dominant disorder characterized by short stature, facial
DE dysmorphism, skeletal anomalies, and variable cardiac defects.
DE Distinctive facial features include midface retrusion, short upturned
DE nose, long philtrum, high-arched or cleft palate, and variable degrees
DE of micrognathia and dental crowding. Skeletal anomalies include
DE patterning defects of the axial skeleton, characterized by 11 pairs of
DE ribs and brachydactyly of the fifth ray. Congenital heart defects are
DE variably observed and appear to involve primarily the cardiac outflow
DE tract.
DR MIM; 617877; phenotype.
DR MedGen; CN807949.
DR MeSH; D001848.
KW KW-0242:Dwarfism.
//
ID Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2.
AC DI-06048
AR SSFSC2.
DE An autosomal recessive disorder characterized by reduced growth,
DE skeletal abnormalities, a distinctive craniofacial appearance, and
DE dental anomalies. Cardiac anomalies have been reported in some
DE patients.
DR MIM; 619184; phenotype.
DR MedGen; CN295282.
DR MeSH; D001848.
DR MeSH; D014076.
DR MeSH; D019465.
KW KW-0242:Dwarfism.
//
ID Short stature, hearing loss, retinitis pigmentosa, and distinctive facies.
AC DI-05141
AR SHRF.
DE An autosomal recessive disorder characterized by childhood myopia,
DE early onset retinitis pigmentosa, progressive sensorineural hearing
DE loss, hypothyroidism, short stature, brachydactyly, recognisable
DE facial gestalt, premature ageing and mild intellectual disability.
DR MIM; 617763; phenotype.
DR MedGen; CN603946.
DR MeSH; D000015.
KW KW-0209:Deafness.
KW KW-0242:Dwarfism.
KW KW-0682:Retinitis pigmentosa.
//
ID Short stature, idiopathic, X-linked.
AC DI-01807
AR ISS.
DE A condition defined by a standing height more than 2 standard
DE deviations below the mean (or below the 2.5 percentile) for sex and
DE chronological age, compared with a well-nourished, genetically
DE relevant population, in the absence of specific causative disorders.
DR MIM; 300582; phenotype.
DR MedGen; C1845118.
DR MeSH; D004392.
KW KW-0242:Dwarfism.
//
ID Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies.
AC DI-06249
AR SIMHA.
DE An autosomal recessive syndrome characterized by short stature,
DE impaired intellectual development, microcephaly, hypotonia, and ocular
DE anomalies.
SY SIMHA syndrome.
DR MIM; 619557; phenotype.
DR MedGen; CN300601.
DR MeSH; D001848.
DR MeSH; D008607.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
//
ID Short stature, microcephaly, and endocrine dysfunction.
AC DI-04525
AR SSMED.
DE A disease characterized by short stature and microcephaly apparent at
DE birth, progressive postnatal growth failure, and endocrine
DE dysfunction. In affected adults endocrine features include
DE hypergonadotropic hypogonadism, multinodular goiter, and diabetes
DE mellitus. Variable features observed in some patients are progressive
DE ataxia, and lymphopenia or borderline leukopenia.
DR MIM; 616541; phenotype.
DR MedGen; CN232399.
DR MeSH; D003920.
DR MeSH; D004392.
DR MeSH; D006044.
DR MeSH; D007006.
DR MeSH; D008831.
KW KW-0242:Dwarfism.
//
ID Short stature, oligodontia, dysmorphic facies, and motor delay.
AC DI-06060
AR SOFM.
DE An autosomal recessive disorder with phenotypic variability. The main
DE clinical features include endosteal hyperostosis, short stature,
DE oligodontia, mild facial dysmorphisms, and delayed motor development.
DE Some patients show progeroid features.
DR MIM; 619234; phenotype.
DR MedGen; CN295849.
DR MeSH; D000015.
KW KW-0242:Dwarfism.
//
ID Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis.
AC DI-03517
AR SOFT.
DE A syndrome characterized by severely short long bones, peculiar facies
DE associated with paucity of hair, and nail anomalies. Growth
DE retardation is evident on prenatal ultrasound as early as the second
DE trimester of pregnancy, and affected individuals reach a final stature
DE consistent with a height age of 6 years to 8 years. Relative
DE macrocephaly is present during early childhood but head circumference
DE is markedly low by adulthood. Psychomotor development is normal.
DE Facial dysmorphism includes a long, triangular face with prominent
DE nose and small ears, and affected individuals have an unusual high-
DE pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal
DE phalanges and fingernails are present in association with postpubertal
DE sparse and short hair. Typical skeletal findings include short and
DE thick long bones with mild irregular metaphyseal changes, short
DE femoral necks, and hypoplastic pelvis and sacrum. All long bones of
DE the hand are short, with major delay of carpal ossification and cone-
DE shaped epiphyses. Vertebral body ossification is also delayed.
SY SOFT syndrome.
DR MIM; 614813; phenotype.
DR MedGen; C3542022.
DR MedGen; CN143712.
DR MeSH; D004392.
DR MeSH; D007039.
DR MeSH; D009260.
KW KW-0242:Dwarfism.
KW KW-1063:Hypotrichosis.
KW KW-1186:Ciliopathy.
//
ID Short stature, optic nerve atrophy, and Pelger-Huet anomaly.
AC DI-03531
AR SOPH.
DE An autosomal recessive syndrome characterized by severe postnatal
DE growth retardation, facial dysmorphism with senile face, small hands
DE and feet, normal intelligence, abnormal nuclear shape in neutrophil
DE granulocytes (Pelger-Huet anomaly), and optic atrophy with loss of
DE visual acuity and color vision.
SY SOPH syndrome.
DR MIM; 614800; phenotype.
DR MedGen; C3541319.
DR MeSH; D004392.
DR MeSH; D009896.
DR MeSH; D010381.
KW KW-0242:Dwarfism.
//
ID Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay.
AC DI-04856
AR SRMMD.
DE A disorder characterized by facial dysmorphism, severe micrognathia,
DE microcephaly, rhizomelic short stature, and mild developmental delay.
DR MIM; 617164; phenotype.
DR MedGen; CN238794.
DR MeSH; D002658.
DR MeSH; D004392.
DR MeSH; D019465.
KW KW-0242:Dwarfism.
//
ID SHORT syndrome.
AC DI-03868
AR SHORTS.
DE A rare, multisystem disease characterized by short stature, anomalies
DE of the anterior chamber of the eye, characteristic facial features
DE such as triangular facies, lack of facial fat, and hypoplastic nasal
DE alae with overhanging columella, partial lipodystrophy, hernias,
DE hyperextensibility, and delayed dentition. The clinical phenotype can
DE include insulin resistance, nephrocalcinosis, and hearing deficits.
DE Developmental milestones and cognition are normal.
SY Partial lipodystrophy with Rieger anomaly and short stature.
SY Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly and teething delay.
DR MIM; 269880; phenotype.
DR MedGen; C0878684.
DR MeSH; D004392.
DR MeSH; D005124.
DR MeSH; D008060.
KW KW-0242:Dwarfism.
//
ID Short-rib thoracic dysplasia 10 with or without polydactyly.
AC DI-04035
AR SRTD10.
DE A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE ciliopathies that are characterized by a constricted thoracic cage,
DE short ribs, shortened tubular bones, and a 'trident' appearance of the
DE acetabular roof. Polydactyly is variably present. Non-skeletal
DE involvement can include cleft lip/palate as well as anomalies of major
DE organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE intestines, and genitalia. Some forms of the disease are lethal in the
DE neonatal period due to respiratory insufficiency secondary to a
DE severely restricted thoracic cage, whereas others are compatible with
DE life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE syndrome, and short rib-polydactyly syndrome.
DR MIM; 615630; phenotype.
DR MedGen; C3810175.
DR MedGen; CN184534.
DR MeSH; D012779.
KW KW-1186:Ciliopathy.
//
ID Short-rib thoracic dysplasia 11 with or without polydactyly.
AC DI-04036
AR SRTD11.
DE A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE ciliopathies that are characterized by a constricted thoracic cage,
DE short ribs, shortened tubular bones, and a 'trident' appearance of the
DE acetabular roof. Polydactyly is variably present. Non-skeletal
DE involvement can include cleft lip/palate as well as anomalies of major
DE organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE intestines, and genitalia. Some forms of the disease are lethal in the
DE neonatal period due to respiratory insufficiency secondary to a
DE severely restricted thoracic cage, whereas others are compatible with
DE life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE syndrome, and short rib-polydactyly syndrome.
DR MIM; 615633; phenotype.
DR MedGen; C3810200.
DR MedGen; CN184535.
DR MeSH; D012779.
KW KW-1186:Ciliopathy.
//
ID Short-rib thoracic dysplasia 13 with or without polydactyly.
AC DI-04389
AR SRTD13.
DE A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE ciliopathies that are characterized by a constricted thoracic cage,
DE short ribs, shortened tubular bones, and a 'trident' appearance of the
DE acetabular roof. Polydactyly is variably present. Non-skeletal
DE involvement can include cleft lip/palate as well as anomalies of major
DE organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE intestines, and genitalia. Some forms of the disease are lethal in the
DE neonatal period due to respiratory insufficiency secondary to a
DE severely restricted thoracic cage, whereas others are compatible with
DE life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE syndrome, and short rib-polydactyly syndrome.
DR MIM; 616300; phenotype.
DR MedGen; CN229499.
DR MeSH; D012779.
KW KW-1186:Ciliopathy.
//
ID Short-rib thoracic dysplasia 14 with polydactyly.
AC DI-04524
AR SRTD14.
DE A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE ciliopathies that are characterized by a constricted thoracic cage,
DE short ribs, shortened tubular bones, and a 'trident' appearance of the
DE acetabular roof. Polydactyly is variably present. Non-skeletal
DE involvement can include cleft lip/palate as well as anomalies of major
DE organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE intestines, and genitalia. Some forms of the disease are lethal in the
DE neonatal period due to respiratory insufficiency secondary to a
DE severely restricted thoracic cage, whereas others are compatible with
DE life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE syndrome, and short rib-polydactyly syndrome.
DR MIM; 616546; phenotype.
DR MedGen; CN232557.
DR MeSH; D012779.
KW KW-1186:Ciliopathy.
//
ID Short-rib thoracic dysplasia 15 with polydactyly.
AC DI-04792
AR SRTD15.
DE A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE ciliopathies that are characterized by a constricted thoracic cage,
DE short ribs, shortened tubular bones, and a 'trident' appearance of the
DE acetabular roof. Polydactyly is variably present. Non-skeletal
DE involvement can include cleft lip/palate as well as anomalies of major
DE organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE intestines, and genitalia. Some forms of the disease are lethal in the
DE neonatal period due to respiratory insufficiency secondary to a
DE severely restricted thoracic cage, whereas others are compatible with
DE life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE syndrome, and short rib-polydactyly syndrome.
DR MIM; 617088; phenotype.
DR MedGen; CN238092.
DR MeSH; D012779.
KW KW-1186:Ciliopathy.
//
ID Short-rib thoracic dysplasia 16 with or without polydactyly.
AC DI-04794
AR SRTD16.
DE A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE ciliopathies that are characterized by a constricted thoracic cage,
DE short ribs, shortened tubular bones, and a 'trident' appearance of the
DE acetabular roof. Polydactyly is variably present. Non-skeletal
DE involvement can include cleft lip/palate as well as anomalies of major
DE organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE intestines, and genitalia. Some forms of the disease are lethal in the
DE neonatal period due to respiratory insufficiency secondary to a
DE severely restricted thoracic cage, whereas others are compatible with
DE life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE syndrome, and short rib-polydactyly syndrome.
DR MIM; 617102; phenotype.
DR MedGen; CN238098.
DR MeSH; D012779.
KW KW-1186:Ciliopathy.
//
ID Short-rib thoracic dysplasia 17 with or without polydactyly.
AC DI-04957
AR SRTD17.
DE A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE ciliopathies that are characterized by a constricted thoracic cage,
DE short ribs, shortened tubular bones, and a 'trident' appearance of the
DE acetabular roof. Polydactyly is variably present. Non-skeletal
DE involvement can include cleft lip/palate as well as anomalies of major
DE organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE intestines, and genitalia. Some forms of the disease are lethal in the
DE neonatal period due to respiratory insufficiency secondary to a
DE severely restricted thoracic cage, whereas others are compatible with
DE life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE syndrome, and short rib-polydactyly syndrome.
DR MIM; 617405; phenotype.
DR MedGen; CN241837.
DR MeSH; D012779.
KW KW-1186:Ciliopathy.
//
ID Short-rib thoracic dysplasia 18 with polydactyly.
AC DI-05191
AR SRTD18.
DE A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE ciliopathies that are characterized by a constricted thoracic cage,
DE short ribs, shortened tubular bones, and a 'trident' appearance of the
DE acetabular roof. Polydactyly is variably present. Non-skeletal
DE involvement can include cleft lip/palate as well as anomalies of major
DE organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE intestines, and genitalia. Some forms of the disease are lethal in the
DE neonatal period due to respiratory insufficiency secondary to a
DE severely restricted thoracic cage, whereas others are compatible with
DE life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE syndrome, and short rib-polydactyly syndrome.
DR MIM; 617866; phenotype.
DR MedGen; CN795020.
DR MeSH; D012779.
KW KW-1186:Ciliopathy.
//
ID Short-rib thoracic dysplasia 19 with or without polydactyly.
AC DI-05204
AR SRTD19.
DE A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE ciliopathies that are characterized by a constricted thoracic cage,
DE short ribs, shortened tubular bones, and a 'trident' appearance of the
DE acetabular roof. Polydactyly is variably present. Non-skeletal
DE involvement can include cleft lip/palate as well as anomalies of major
DE organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE intestines, and genitalia. Some forms of the disease are lethal in the
DE neonatal period due to respiratory insufficiency secondary to a
DE severely restricted thoracic cage, whereas others are compatible with
DE life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE syndrome, and short rib-polydactyly syndrome.
DR MIM; 617895; phenotype.
DR MedGen; CN842245.
DR MeSH; D012779.
KW KW-1186:Ciliopathy.
//
ID Short-rib thoracic dysplasia 2 with or without polydactyly.
AC DI-01192
AR SRTD2.
DE A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE ciliopathies that are characterized by a constricted thoracic cage,
DE short ribs, shortened tubular bones, and a 'trident' appearance of the
DE acetabular roof. Polydactyly is variably present. Non-skeletal
DE involvement can include cleft lip/palate as well as anomalies of major
DE organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE intestines, and genitalia. Some forms of the disease are lethal in the
DE neonatal period due to respiratory insufficiency secondary to a
DE severely restricted thoracic cage, whereas others are compatible with
DE life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE syndrome, and short rib-polydactyly syndrome.
SY Asphyxiating thoracic dystrophy 2.
SY ATD2.
SY JATD.
SY Jeune asphyxiating thoracic dystrophy.
SY Jeune syndrome 2.
DR MIM; 611263; phenotype.
DR MedGen; C1970005.
DR MeSH; D012779.
KW KW-1186:Ciliopathy.
//
ID Short-rib thoracic dysplasia 20 with polydactyly.
AC DI-05203
AR SRTD20.
DE A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE ciliopathies that are characterized by a constricted thoracic cage,
DE short ribs, shortened tubular bones, and a 'trident' appearance of the
DE acetabular roof. Polydactyly is variably present. Non-skeletal
DE involvement can include cleft lip/palate as well as anomalies of major
DE organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE intestines, and genitalia. Some forms of the disease are lethal in the
DE neonatal period due to respiratory insufficiency secondary to a
DE severely restricted thoracic cage, whereas others are compatible with
DE life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE syndrome, and short rib-polydactyly syndrome.
DR MIM; 617925; phenotype.
DR MedGen; CN902090.
DR MeSH; D012779.
KW KW-1186:Ciliopathy.
//
ID Short-rib thoracic dysplasia 21 without polydactyly.
AC DI-06195
AR SRTD21.
DE A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE ciliopathies that are characterized by a constricted thoracic cage,
DE short ribs, shortened tubular bones, and a 'trident' appearance of the
DE acetabular roof. Polydactyly is variably present. Non-skeletal
DE involvement can include cleft lip/palate as well as anomalies of major
DE organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE intestines, and genitalia. Some forms of the disease are lethal in the
DE neonatal period due to respiratory insufficiency secondary to a
DE severely restricted thoracic cage, whereas others are compatible with
DE life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE syndrome, and short rib-polydactyly syndrome.
DR MIM; 619479; phenotype.
DR MedGen; CN301129.
DR MeSH; D012779.
KW KW-1186:Ciliopathy.
//
ID Short-rib thoracic dysplasia 3 with or without polydactyly.
AC DI-02583
AR SRTD3.
DE A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE ciliopathies that are characterized by a constricted thoracic cage,
DE short ribs, shortened tubular bones, and a 'trident' appearance of the
DE acetabular roof. Polydactyly is variably present. Non-skeletal
DE involvement can include cleft lip/palate as well as anomalies of major
DE organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE intestines, and genitalia. Some forms of the disease are lethal in the
DE neonatal period due to respiratory insufficiency secondary to a
DE severely restricted thoracic cage, whereas others are compatible with
DE life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE syndrome, and short rib-polydactyly syndrome.
SY Asphyxiating thoracic dystrophy 3.
SY ATD3.
SY JATD.
SY Jeune asphyxiating thoracic dystrophy.
SY Jeune syndrome 3.
SY Majewski syndrome.
SY Polydactyly with neonatal chondrodystrophy type I.
SY Polydactyly with neonatal chondrodystrophy type III.
SY Saldino-Noonan syndrome.
SY Short rib-polydactyly syndrome type I.
SY Short rib-polydactyly syndrome type IIB.
SY Short rib-polydactyly syndrome type III.
SY SRPS1.
SY SRPS2B.
SY SRPS3.
SY SRPS type IIB.
SY SRPS type III.
SY Verma-Naumoff syndrome.
DR MIM; 613091; phenotype.
DR MedGen; C2751311.
DR MeSH; D012779.
KW KW-1186:Ciliopathy.
//
ID Short-rib thoracic dysplasia 4 with or without polydactyly.
AC DI-03067
AR SRTD4.
DE A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE ciliopathies that are characterized by a constricted thoracic cage,
DE short ribs, shortened tubular bones, and a 'trident' appearance of the
DE acetabular roof. Polydactyly is variably present. Non-skeletal
DE involvement can include cleft lip/palate as well as anomalies of major
DE organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE intestines, and genitalia. Some forms of the disease are lethal in the
DE neonatal period due to respiratory insufficiency secondary to a
DE severely restricted thoracic cage, whereas others are compatible with
DE life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE syndrome, and short rib-polydactyly syndrome.
SY Asphyxiating thoracic dystrophy 4.
SY ATD4.
SY JATD.
SY Jeune asphyxiating thoracic dystrophy.
SY Jeune syndrome 4.
DR MIM; 613819; phenotype.
DR MedGen; C3151185.
DR MeSH; D012779.
KW KW-1186:Ciliopathy.
//
ID Short-rib thoracic dysplasia 5 with or without polydactyly.
AC DI-03325
AR SRTD5.
DE A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE ciliopathies that are characterized by a constricted thoracic cage,
DE short ribs, shortened tubular bones, and a 'trident' appearance of the
DE acetabular roof. Polydactyly is variably present. Non-skeletal
DE involvement can include cleft lip/palate as well as anomalies of major
DE organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE intestines, and genitalia. Some forms of the disease are lethal in the
DE neonatal period due to respiratory insufficiency secondary to a
DE severely restricted thoracic cage, whereas others are compatible with
DE life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE syndrome, and short rib-polydactyly syndrome.
SY Asphyxiating thoracic dystrophy 5.
SY ATD5.
SY JATD.
SY Jeune asphyxiating thoracic dystrophy.
SY Jeune syndrome 5.
DR MIM; 614376; phenotype.
DR MedGen; C3280598.
DR MeSH; D012779.
KW KW-1186:Ciliopathy.
//
ID Short-rib thoracic dysplasia 6 with or without polydactyly.
AC DI-03018
AR SRTD6.
DE A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE ciliopathies that are characterized by a constricted thoracic cage,
DE short ribs, shortened tubular bones, and a 'trident' appearance of the
DE acetabular roof. Polydactyly is variably present. Non-skeletal
DE involvement can include cleft lip/palate as well as anomalies of major
DE organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE intestines, and genitalia. Some forms of the disease are lethal in the
DE neonatal period due to respiratory insufficiency secondary to a
DE severely restricted thoracic cage, whereas others are compatible with
DE life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE syndrome, and short rib-polydactyly syndrome.
SY Majewski syndrome.
SY Polydactyly with neonatal chondrodystrophy type II.
SY Short rib-polydactyly syndrome 2A.
SY Short rib-polydactyly syndrome type II.
SY Short rib-polydactyly syndrome type IIA.
SY SRPS2A.
SY SRPS type II.
DR MIM; 263520; phenotype.
DR MedGen; C0024507.
DR MeSH; D012779.
KW KW-1186:Ciliopathy.
//
ID Short-rib thoracic dysplasia 7 with or without polydactyly.
AC DI-03182
AR SRTD7.
DE A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE ciliopathies that are characterized by a constricted thoracic cage,
DE short ribs, shortened tubular bones, and a 'trident' appearance of the
DE acetabular roof. Polydactyly is variably present. Non-skeletal
DE involvement can include cleft lip/palate as well as anomalies of major
DE organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE intestines, and genitalia. Some forms of the disease are lethal in the
DE neonatal period due to respiratory insufficiency secondary to a
DE severely restricted thoracic cage, whereas others are compatible with
DE life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE syndrome, and short rib-polydactyly syndrome. SRTD7 hallmarks are
DE acromesomelic hypomineralization, campomelia, polysyndactyly,
DE laterality defects, and cystic kidneys.
SY Short rib-polydactyly syndrome type V.
SY SRPS5.
SY SRPS type V.
DR MIM; 614091; phenotype.
DR MedGen; C3279792.
DR MeSH; D012779.
KW KW-1186:Ciliopathy.
//
ID Short-rib thoracic dysplasia 7/20 with polydactyly, digenic.
AC DI-05258
AR SRTD7/20.
DE A digenic form of short-rib thoracic dysplasia caused by double
DE heterozygosity for a mutation in the WDR35 gene and a mutation in the
DE INTU gene. Short-rib thoracic dysplasia is part of a group of
DE ciliopathies that are characterized by a constricted thoracic cage,
DE short ribs, shortened tubular bones, and a 'trident' appearance of the
DE acetabular roof. Polydactyly is variably present. Non-skeletal
DE involvement can include cleft lip/palate as well as anomalies of major
DE organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE intestines, and genitalia. Some forms of the disease are lethal in the
DE neonatal period due to respiratory insufficiency secondary to a
DE severely restricted thoracic cage, whereas others are compatible with
DE life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE syndrome, and short rib-polydactyly syndrome.
DR MIM; 614091; phenotype.
DR MedGen; C3279792.
DR MeSH; D012779.
KW KW-1186:Ciliopathy.
//
ID Short-rib thoracic dysplasia 8 with or without polydactyly.
AC DI-03926
AR SRTD8.
DE A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE ciliopathies that are characterized by a constricted thoracic cage,
DE short ribs, shortened tubular bones, and a 'trident' appearance of the
DE acetabular roof. Polydactyly is variably present. Non-skeletal
DE involvement can include cleft lip/palate as well as anomalies of major
DE organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE intestines, and genitalia. Some forms of the disease are lethal in the
DE neonatal period due to respiratory insufficiency secondary to a
DE severely restricted thoracic cage, whereas others are compatible with
DE life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE syndrome, and short rib-polydactyly syndrome.
SY Short rib-polydactyly syndrome type VI.
SY SRPS6.
SY SRPS type VI.
DR MIM; 615503; phenotype.
DR MedGen; C3809691.
DR MedGen; CN180645.
DR MeSH; D012779.
KW KW-1186:Ciliopathy.
//
ID Short-rib thoracic dysplasia 9 with or without polydactyly.
AC DI-03475
AR SRTD9.
DE A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE ciliopathies that are characterized by a constricted thoracic cage,
DE short ribs, shortened tubular bones, and a 'trident' appearance of the
DE acetabular roof. Polydactyly is variably present. Non-skeletal
DE involvement can include cleft lip/palate as well as anomalies of major
DE organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE intestines, and genitalia. Some forms of the disease are lethal in the
DE neonatal period due to respiratory insufficiency secondary to a
DE severely restricted thoracic cage, whereas others are compatible with
DE life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE syndrome, and short rib-polydactyly syndrome. SRTD9 is characterized
DE by phalangeal cone-shaped epiphyses, chronic renal disease, nearly
DE constant retinal dystrophy, and mild radiographic abnormality of the
DE proximal femur. Occasional features include short stature, cerebellar
DE ataxia, and hepatic fibrosis.
SY Conorenal syndrome.
SY Mainzer-Saldino disease.
SY Mainzer-Saldino syndrome.
SY MSS.
SY MZSDS.
SY Renal dysplasia retinal pigmentary dystrophy cerebellar ataxia and skeletal dysplasia.
DR MIM; 266920; phenotype.
DR MedGen; C1849437.
DR MeSH; D002524.
DR MeSH; D012174.
DR MeSH; D012779.
KW KW-1186:Ciliopathy.
//
ID Short/branched-chain acyl-CoA dehydrogenase deficiency.
AC DI-02302
AR SBCADD.
DE Autosomal recessive disorder and consists of a defect in catabolism of
DE L-isoleucine which is characterized by an increase of 2-
DE methylbutyrylglycine and 2-methylbutyrylcarnitine in blood and urine.
DE Affected individuals have seizures and psychomotor delay as the main
DE clinical features.
SY 2-methylbutyryl-CoA dehydrogenase deficiency.
SY 2-methylbutyryl glycinuria.
DR MIM; 610006; phenotype.
DR MedGen; C1864912.
//
ID Shprintzen-Goldberg craniosynostosis syndrome.
AC DI-01027
AR SGS.
DE A very rare syndrome characterized by a marfanoid habitus,
DE craniosynostosis, characteristic dysmorphic facial features, skeletal
DE and cardiovascular abnormalities, intellectual disability,
DE developmental delay and learning disabilities.
SY Craniosynostosis with arachnodactyly and abdominal hernias.
SY Marfanoid craniosynostosis syndrome.
SY Marfanoid disorder with craniosynostosis type I.
DR MIM; 182212; phenotype.
DR MedGen; C1321551.
DR MeSH; D003398.
DR MeSH; D008382.
DR MeSH; D054119.
KW KW-0989:Craniosynostosis.
//
ID Shukla-Vernon syndrome.
AC DI-05604
AR SHUVER.
DE An X-linked neurodevelopmental disorder manifesting in affected males
DE with intellectual and learning disability, motor and language delay,
DE autism spectrum disorder, attention deficit and hyperactivity
DE disorder, and dysmorphic features. Some patients may have seizures
DE and/or cerebellar atrophy on brain imaging. Carrier females may have
DE mild disease manifestations.
DR MIM; 301029; phenotype.
DR MedGen; CN261159.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
KW KW-1268:Autism spectrum disorder.
//
ID Shwachman-Diamond syndrome 1.
AC DI-02303
AR SDS1.
DE A form of Shwachman-Diamond syndrome, a disorder characterized by
DE hematopoietic abnormalities, exocrine pancreatic dysfunction, and
DE skeletal dysplasia. Intermittent or chronic neutropenia is the most
DE common hematological manifestation, followed by anemia and
DE thrombocytopenia. Some patients progress to bone marrow failure,
DE myelodysplastic syndrome and malignant transformation, with acute
DE myelogenous leukemia being the most common. Exocrine pancreatic
DE dysfunction is generally the first presenting symptom in infancy.
DE Short stature and metaphyseal dysplasia are the most frequent skeletal
DE manifestations. SDS1 inheritance is autosomal recessive.
DR MIM; 260400; phenotype.
DR MedGen; C0272170.
DR MeSH; D001848.
DR MeSH; D006402.
DR MeSH; D010188.
//
ID Shwachman-Diamond syndrome 2.
AC DI-05230
AR SDS2.
DE A form of Shwachman-Diamond syndrome, a disorder characterized by
DE hematopoietic abnormalities, exocrine pancreatic dysfunction, and
DE skeletal dysplasia. Intermittent or chronic neutropenia is the most
DE common hematological manifestation, followed by anemia and
DE thrombocytopenia. Some patients progress to bone marrow failure,
DE myelodysplastic syndrome and malignant transformation, with acute
DE myelogenous leukemia being the most common. Exocrine pancreatic
DE dysfunction is generally the first presenting symptom in infancy.
DE Short stature and metaphyseal dysplasia are the most frequent skeletal
DE manifestations. SDS2 inheritance is autosomal recessive.
DR MIM; 617941; phenotype.
DR MedGen; CN244554.
DR MeSH; D001848.
DR MeSH; D006402.
DR MeSH; D010188.
//
ID Sialidosis.
AC DI-02304
AR SIALIDOSIS.
DE Lysosomal storage disease occurring as two types with various
DE manifestations. Type 1 sialidosis (cherry red spot-myoclonus syndrome
DE or normosomatic type) is late-onset and it is characterized by the
DE formation of cherry red macular spots in childhood, progressive
DE debilitating myoclonus, insiduous visual loss and rarely ataxia. The
DE diagnosis can be confirmed by the screening of the urine for
DE sialyloligosaccharides. Type 2 sialidosis (also known as dysmorphic
DE type) occurs as several variants of increasing severity with earlier
DE age of onset. It is characterized by the presence of abnormal somatic
DE features including coarse facies and dysostosis multiplex, vertebral
DE deformities, intellectual disability, cherry-red spot/myoclonus,
DE sialuria, cytoplasmic vacuolation of peripheral lymphocytes, bone
DE marrow cells and conjunctival epithelial cells.
DR MIM; 256550; phenotype.
DR MedGen; C0023806.
DR MedGen; C0268226.
DR MedGen; C0268228.
DR MedGen; C1850510.
//
ID Sialuria.
AC DI-02305
AR SIALURIA.
DE In sialuria, free sialic acid accumulates in the cytoplasm and gram
DE quantities of neuraminic acid are secreted in the urine. The metabolic
DE defect involves lack of feedback inhibition of UDP-GlcNAc 2-epimerase
DE by CMP-Neu5Ac, resulting in constitutive overproduction of free
DE Neu5Ac. Clinical features include variable degrees of developmental
DE delay, coarse facial features and hepatomegaly. Sialuria inheritance
DE is autosomal dominant.
SY Sialuria French type.
DR MIM; 269921; phenotype.
DR MedGen; C0342853.
DR MedGen; C2931471.
//
ID Sick sinus syndrome 1.
AC DI-01028
AR SSS1.
DE The term 'sick sinus syndrome' encompasses a variety of conditions
DE caused by sinus node dysfunction. The most common clinical
DE manifestations are syncope, presyncope, dizziness, and fatigue.
DE Electrocardiogram typically shows sinus bradycardia, sinus arrest,
DE and/or sinoatrial block. Episodes of atrial tachycardias coexisting
DE with sinus bradycardia ('tachycardia-bradycardia syndrome') are also
DE common in this disorder. SSS occurs most often in the elderly
DE associated with underlying heart disease or previous cardiac surgery,
DE but can also occur in the fetus, infant, or child without heart
DE disease or other contributing factors. SSS1 onset is in utero,
DE infancy, or early childhood.
SY Autosomal recessive sick sinus syndrome 1.
SY Congenital absence of sinus rhythm.
SY Familial sinus bradycardia syndrome.
SY Familial sinus node disease autosomal recessive.
SY Sick sinus syndrome, congenital.
SY Sinus bradycardia syndrome, familial.
SY Sinus node disease, familial, autosomal recessive.
DR MIM; 608567; phenotype.
DR MedGen; C1837845.
DR MeSH; D012804.
//
ID Sick sinus syndrome 2.
AC DI-01029
AR SSS2.
DE The term 'sick sinus syndrome' encompasses a variety of conditions
DE caused by sinus node dysfunction. The most common clinical
DE manifestations are syncope, presyncope, dizziness, and fatigue.
DE Electrocardiogram typically shows sinus bradycardia, sinus arrest,
DE and/or sinoatrial block. Episodes of atrial tachycardias coexisting
DE with sinus bradycardia ('tachycardia-bradycardia syndrome') are also
DE common in this disorder. SSS occurs most often in the elderly
DE associated with underlying heart disease or previous cardiac surgery,
DE but can also occur in the fetus, infant, or child without heart
DE disease or other contributing factors. SSS2 onset is in utero or at
DE birth.
SY Atrial fibrillation with bradyarrhythmia.
SY Autosomal dominant sick sinus syndrome 2.
SY Familial sinus bradycardia syndrome autosomal dominant.
SY Sick sinus syndrome 2 with or without cardiac noncompaction and/or ascending aorta dilation.
SY Sinus bradycardia syndrome, familial, autosomal dominant.
SY Sinus node disease, familial, autosomal dominant.
SY SSS autosomal dominant.
DR MIM; 163800; phenotype.
DR MedGen; C1834144.
DR MeSH; D001281.
DR MeSH; D012804.
//
ID Sick sinus syndrome 3.
AC DI-03155
AR SSS3.
DE The term 'sick sinus syndrome' encompasses a variety of conditions
DE caused by sinus node dysfunction. The most common clinical
DE manifestations are syncope, presyncope, dizziness, and fatigue.
DE Electrocardiogram typically shows sinus bradycardia, sinus arrest,
DE and/or sinoatrial block. Episodes of atrial tachycardias coexisting
DE with sinus bradycardia ('tachycardia-bradycardia syndrome') are also
DE common in this disorder. SSS occurs most often in the elderly
DE associated with underlying heart disease or previous cardiac surgery,
DE but can also occur in the fetus, infant, or child without heart
DE disease or other contributing factors.
DR MIM; 614090; phenotype.
DR MedGen; C3279791.
DR MeSH; D012804.
//
ID Sick sinus syndrome 4.
AC DI-06153
AR SSS4.
DE The term 'sick sinus syndrome' encompasses a variety of conditions
DE caused by sinus node dysfunction. The most common clinical
DE manifestations are syncope, presyncope, dizziness, and fatigue.
DE Electrocardiogram typically shows sinus bradycardia, sinus arrest,
DE and/or sinoatrial block. Episodes of atrial tachycardias coexisting
DE with sinus bradycardia ('tachycardia-bradycardia syndrome') are also
DE common in this disorder. SSS occurs most often in the elderly
DE associated with underlying heart disease or previous cardiac surgery,
DE but can also occur in the fetus, infant, or child without heart
DE disease or other contributing factors. SSS4 is characterized by early
DE and progressive sinus node and atrioventricular conduction
DE dysfunction. Some affected individuals are asymptomatic. SSS4
DE inheritance is autosomal dominant.
DR MIM; 619464; phenotype.
DR MedGen; CN300240.
DR MeSH; D012804.
//
ID Sickle cell anemia.
AC DI-02306
AR SKCA.
DE Characterized by abnormally shaped red cells resulting in chronic
DE anemia and periodic episodes of pain, serious infections and damage to
DE vital organs. Normal red blood cells are round and flexible and flow
DE easily through blood vessels, but in sickle cell anemia, the abnormal
DE hemoglobin (called Hb S) causes red blood cells to become stiff. They
DE are C-shaped and resembles a sickle. These stiffer red blood cells can
DE led to microvascular occlusion thus cutting off the blood supply to
DE nearby tissues.
SY Sickle cell disease.
DR MIM; 603903; phenotype.
DR MedGen; C0002895.
//
ID Siddiqi syndrome.
AC DI-05681
AR SIDDIS.
DE An autosomal recessive disorder characterized by early-onset
DE progressive sensorineural hearing impairment, global developmental
DE delay, regression of motor skills, dystonia, and low body mass index.
DE Some patients have an ichthosis-like appearance of the skin and signs
DE of sensory neuropathy.
DR MIM; 618635; phenotype.
DR MedGen; CN262532.
DR MeSH; D000015.
KW KW-0209:Deafness.
KW KW-1023:Dystonia.
//
ID Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay.
AC DI-04261
AR SIFD.
DE An autosomal recessive disease characterized by severe sideroblastic
DE anemia with onset in the neonatal period or infancy, recurrent
DE periodic fevers without an infectious etiology, B-cell lymphopenia and
DE hypogammaglobulinemia. Affected individuals show delayed psychomotor
DE development with variable neurodegeneration. Additional variable
DE features include sensorineural hearing loss, retinitis pigmentosa,
DE nephrocalcinosis, and cardiomyopathy.
DR MIM; 616084; phenotype.
DR MedGen; CN221134.
DR MeSH; D000756.
DR MeSH; D002658.
DR MeSH; D007153.
DR MeSH; D056660.
//
ID Sifrim-Hitz-Weiss syndrome.
AC DI-04857
AR SIHIWES.
DE An autosomal dominant syndrome characterized by intellectual
DE disability, variable congenital defects affecting cardiac, skeletal,
DE and urogenital systems. Short stature, macrocephaly, hearing
DE impairment, and facial dysmorphism are present in some patients.
DR MIM; 617159; phenotype.
DR MedGen; CN238765.
DR MeSH; D000015.
KW KW-0991:Intellectual disability.
//
ID Silver-Russell syndrome 1.
AC DI-02493
AR SRS1.
DE A form of Silver-Russell syndrome, a clinically heterogeneous
DE condition characterized by severe intrauterine growth retardation,
DE poor postnatal growth, craniofacial features such as a triangular
DE shaped face and a broad forehead, body asymmetry, and a variety of
DE minor malformations. The phenotypic expression changes during
DE childhood and adolescence, with the facial features and asymmetry
DE usually becoming more subtle with age. SRS1 is caused by epigenetic
DE changes of DNA hypomethylation at the telomeric imprinting control
DE region (ICR1) on chromosome 11p15, involving the H19 and IGF2 genes.
SY RSS.
SY Russell-Silver syndrome.
SY Silver-Russell dwarfism.
SY Silver-Russell syndrome.
SY SRS.
DR MIM; 180860; phenotype.
DR MedGen; C0175693.
DR MeSH; D056730.
KW KW-0242:Dwarfism.
//
ID Silver-Russell syndrome 3.
AC DI-04494
AR SRS3.
DE A form of Silver-Russell syndrome, a clinically heterogeneous
DE condition characterized by severe intrauterine growth retardation,
DE poor postnatal growth, craniofacial features such as a triangular
DE shaped face and a broad forehead, body asymmetry, and a variety of
DE minor malformations. The phenotypic expression changes during
DE childhood and adolescence, with the facial features and asymmetry
DE usually becoming more subtle with age. SRS3 inheritance is autosomal
DE dominant.
SY GRDF.
SY Growth restriction, severe, with distinctive facies.
DR MIM; 616489; phenotype.
DR MedGen; CN231729.
DR MeSH; D004392.
KW KW-0242:Dwarfism.
//
ID Silver-Russell syndrome 4.
AC DI-05850
AR SRS4.
DE A form of Silver-Russell syndrome, a clinically heterogeneous
DE condition characterized by severe intrauterine growth retardation,
DE poor postnatal growth, craniofacial features such as a triangular
DE shaped face and a broad forehead, body asymmetry, and a variety of
DE minor malformations. The phenotypic expression changes during
DE childhood and adolescence, with the facial features and asymmetry
DE usually becoming more subtle with age. SRS4 inheritance is autosomal
DE dominant.
DR MIM; 618907; phenotype.
DR MedGen; CN282529.
DR MeSH; D056730.
KW KW-0242:Dwarfism.
//
ID Silver-Russell syndrome 5.
AC DI-05851
AR SRS5.
DE A form of Silver-Russell syndrome, a clinically heterogeneous
DE condition characterized by severe intrauterine growth retardation,
DE poor postnatal growth, craniofacial features such as a triangular
DE shaped face and a broad forehead, body asymmetry, and a variety of
DE minor malformations. The phenotypic expression changes during
DE childhood and adolescence, with the facial features and asymmetry
DE usually becoming more subtle with age. SRS5 inheritance is autosomal
DE dominant.
DR MIM; 618908; phenotype.
DR MedGen; CN282530.
DR MeSH; D056730.
KW KW-0242:Dwarfism.
//
ID Simpson-Golabi-Behmel syndrome 1.
AC DI-02307
AR SGBS1.
DE A condition characterized by pre- and postnatal overgrowth
DE (gigantism), facial dysmorphism and a variety of inconstant visceral
DE and skeletal malformations. Characteristic dysmorphic features include
DE macrocephaly with coarse, distinctive facies with a large protruding
DE jaw, broad nasal bridge and cleft palate. Cardiac defects are
DE frequent.
SY Bulldog syndrome.
SY DGSX.
SY Dysplasia gigantism syndrome X-linked.
SY Golabi-Rosen syndrome.
SY SDYS.
SY Simpson dysmorphia syndrome.
DR MIM; 312870; phenotype.
DR MedGen; C0796154.
DR MeSH; D001848.
//
ID Simpson-Golabi-Behmel syndrome 2.
AC DI-02750
AR SGBS2.
DE A severe variant of Simpson-Golabi-Behmel syndrome, a condition
DE characterized by pre- and postnatal overgrowth (gigantism), facial
DE dysmorphism and a variety of inconstant visceral and skeletal
DE malformations.
DR MIM; 300209; phenotype.
DR MedGen; C1846175.
DR MeSH; D001848.
KW KW-1186:Ciliopathy.
//
ID Singleton-Merten syndrome 1.
AC DI-04386
AR SGMRT1.
DE An autosomal dominant disorder with variable expression. Core features
DE are marked aortic calcification, dental anomalies, osteopenia, acro-
DE osteolysis, and to a lesser extent glaucoma, psoriasis, muscle
DE weakness, and joint laxity. Dental anomalies include delayed eruption
DE and immature root formation of anterior permanent teeth, early loss of
DE permanent teeth due to short roots, acute root resorption, high
DE caries, and aggressive alveolar bone loss. Additional clinical
DE manifestations include particular facial characteristics and abnormal
DE joint and muscle ligaments.
DR MIM; 182250; phenotype.
DR MedGen; C0432254.
DR MeSH; D001018.
DR MeSH; D010024.
DR MeSH; D014071.
DR MeSH; D030981.
//
ID Singleton-Merten syndrome 2.
AC DI-04387
AR SGMRT2.
DE A form of Singleton-Merten syndrome, an autosomal dominant disorder
DE characterized by marked aortic calcification, dental anomalies,
DE osteopenia, acro-osteolysis, and to a lesser extent glaucoma,
DE psoriasis, muscle weakness, and joint laxity. Additional clinical
DE manifestations include particular facial characteristics and abnormal
DE joint and muscle ligaments. SGMRT2 is an atypical form characterized
DE by variable expression of glaucoma, aortic calcification, and skeletal
DE abnormalities, without dental anomalies.
DR MIM; 616298; phenotype.
DR MedGen; CN229494.
DR MeSH; D001018.
DR MeSH; D010024.
DR MeSH; D030981.
//
ID Sinoatrial node dysfunction and deafness.
AC DI-03562
AR SANDD.
DE A disease characterized by congenital severe to profound deafness
DE without vestibular dysfunction, associated with episodic syncope due
DE to intermittent pronounced bradycardia.
DR MIM; 614896; phenotype.
DR MedGen; C3554018.
DR MedGen; CN159224.
DR MeSH; D001146.
KW KW-0209:Deafness.
//
ID Sitosterolemia 1.
AC DI-02308
AR STSL1.
DE A form of sitosterolemia, an autosomal recessive metabolic disorder
DE characterized by unregulated intestinal absorption of cholesterol,
DE phytosterols and shellfish sterols, and decreased biliary excretion of
DE dietary sterols into bile. Patients have hypercholesterolemia, very
DE high levels of plant sterols in the plasma, and frequently develop
DE tendon and tuberous xanthomas, accelerated atherosclerosis and
DE premature coronary artery disease.
SY Phytosterolemia.
SY Shellfish sterolemia.
DR MIM; 210250; phenotype.
DR MedGen; C0342907.
DR MeSH; D008052.
//
ID Sitosterolemia 2.
AC DI-05695
AR STSL2.
DE A form of sitosterolemia, an autosomal recessive metabolic disorder
DE characterized by unregulated intestinal absorption of cholesterol,
DE phytosterols and shellfish sterols, and decreased biliary excretion of
DE dietary sterols into bile. Patients have hypercholesterolemia, very
DE high levels of plant sterols in the plasma, and frequently develop
DE tendon and tuberous xanthomas, accelerated atherosclerosis and
DE premature coronary artery disease.
DR MIM; 618666; phenotype.
DR MedGen; CN262848.
DR MeSH; D008052.
//
ID Sjoegren-Larsson syndrome.
AC DI-01031
AR SLS.
DE An autosomal recessive neurocutaneous disorder characterized by a
DE combination of severe intellectual disability, spastic di- or
DE tetraplegia and congenital ichthyosis. Ichthyosis is usually evident
DE at birth with varying degrees of erythema and scaling, neurologic
DE symptoms appear in the first or second year of life. Most patients
DE have an IQ of less than 60. Additional clinical features include
DE glistening white spots on the retina, seizures, short stature and
DE speech defects.
DR MIM; 270200; phenotype.
DR MedGen; C0037231.
DR MeSH; D016111.
KW KW-0977:Ichthyosis.
KW KW-0991:Intellectual disability.
//
ID Skeletal defects, genital hypoplasia, and impaired intellectual development.
AC DI-02310
AR SGYMR.
DE A disorder characterized by intellectual disability, craniofacial
DE dysmorphism, microcephaly and short stature. Additional features
DE include absence of the thumbs, hypoplasia of the radii and ulnae,
DE additional vertebrae and ribs, retarded bone age and genital
DE hypoplasia.
DR MIM; 612447; phenotype.
DR MedGen; C2676231.
DR MeSH; D008607.
DR MeSH; D009139.
KW KW-0991:Intellectual disability.
//
ID Skeletal dysplasia, mild, with joint laxity and advanced bone age.
AC DI-05830
AR SDJLABA.
DE An autosomal recessive disorder characterized by skeletal dysplasia,
DE short stature, short long bones, advanced bone age, joint laxity, and
DE facial dysmorphism.
DR MIM; 618870; phenotype.
DR MedGen; CN280879.
DR MeSH; D001848.
KW KW-0242:Dwarfism.
//
ID Skin creases, congenital symmetric circumferential, 1.
AC DI-04628
AR CSCSC1.
DE An autosomal dominant disease characterized by multiple, symmetric,
DE circumferential rings of folded skin, affecting primarily the limbs.
DE Affected individuals also exhibit intellectual disability, cleft
DE palate, and dysmorphic features.
SY Circumferential skin creases, Kunze type.
SY Circumferential skin creases Kunze type.
SY CSC-KT.
SY Michelin tire baby syndrome.
SY Multiple benign ring-shaped skin creases of limbs.
SY Skin creases, multiple benign ring-shaped, of limbs.
DR MIM; 156610; phenotype.
DR MedGen; C0473586.
DR MeSH; D003483.
DR MeSH; D006222.
DR MeSH; D012868.
//
ID Skin creases, congenital symmetric circumferential, 2.
AC DI-04629
AR CSCSC2.
DE An autosomal dominant disease characterized by multiple, symmetric,
DE circumferential rings of folded skin, affecting primarily the limbs.
DE Affected individuals also exhibit intellectual disability, cleft
DE palate, and dysmorphic features.
DR MIM; 616734; phenotype.
DR MedGen; CN234753.
DR MeSH; D003483.
DR MeSH; D006222.
DR MeSH; D012868.
//
ID Skin fragility-woolly hair syndrome.
AC DI-01032
AR SFWHS.
DE An autosomal recessive genodermatosis characterized by skin fragility
DE with blistering, focal and diffuse palmoplantar keratoderma,
DE hyperkeratotic plaques on the trunk and limbs, and woolly hair with
DE varying degrees of alopecia.
DR MIM; 607655; phenotype.
DR MedGen; C1843292.
DR MeSH; D006201.
DR MeSH; D012873.
KW KW-1007:Palmoplantar keratoderma.
//
ID Skraban-Deardorff syndrome.
AC DI-05071
AR SKDEAS.
DE An autosomal dominant syndrome characterized by psychomotor
DE developmental delay, intellectual disability with delayed speech,
DE febrile and non-febrile seizures, abnormal gait, and facial
DE dysmorphism. Facial features include a prominent maxilla and upper lip
DE that readily reveal the upper gingiva, widely spaced teeth, and a
DE broad nasal tip.
SY Intellectual disability with seizures, abnormal gait, and distinctive facial features.
DR MIM; 617616; phenotype.
DR MedGen; CN399088.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Slowed nerve conduction velocity.
AC DI-02311
AR SNCV.
DE Affected individuals present a reduction in nerve conduction
DE velocities without any clinical signs of peripheral or central nervous
DE system dysfunction. SNCV inheritance is autosomal dominant.
DR MIM; 608236; phenotype.
DR MedGen; C1842357.
//
ID Smith-Kingsmore syndrome.
AC DI-04576
AR SKS.
DE An autosomal dominant syndrome characterized by intellectual
DE disability, macrocephaly, seizures, umbilical hernia, and facial
DE dysmorphic features.
SY Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome.
SY MINDS syndrome.
DR MIM; 616638; phenotype.
DR MedGen; CN233222.
DR MeSH; D006554.
DR MeSH; D008607.
DR MeSH; D012640.
DR MeSH; D019465.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Smith-Lemli-Opitz syndrome.
AC DI-01033
AR SLOS.
DE An autosomal recessive frequent inborn disorder of sterol metabolism
DE with characteristic congenital malformations and intellectual
DE disability. Children with SLOS have elevated serum 7-
DE dehydrocholesterol (7-DHC) levels and low serum cholesterol levels.
DE SLOS occurs in relatively high frequency: approximately 1 in 20,000 to
DE 30,000 births in populations of northern and central European
DE background. Historically, a clinical distinction often was made
DE between classic ('type I') SLOS and the more severely affected ('type
DE II') patients. There is, in reality, a clinical and biochemical
DE continuum from mild to severe SLOS.
SY RSH syndrome.
SY Rutledge lethal multiple congenital anomaly syndrome.
SY SLO syndrome.
DR MIM; 270400; phenotype.
DR MedGen; C0175694.
DR MedGen; C0282644.
DR MeSH; D019082.
//
ID Smith-Magenis syndrome.
AC DI-02313
AR SMS.
DE Characterized by intellectual disability associated with development
DE and growth delays. Affected persons have characteristic behavioral
DE abnormalities, including self-injurious behaviors and sleep
DE disturbance, and distinct craniofacial and skeletal anomalies.
DR MIM; 182290; phenotype.
DR MedGen; C0795864.
DR MedGen; C1866927.
//
ID Smith-McCort dysplasia 1.
AC DI-01034
AR SMC1.
DE A rare autosomal recessive osteochondrodysplasia with skeletal
DE features identical to those of Dyggve-Melchior-Clausen syndrome, but
DE with normal intelligence and no microcephaly. It is characterized by
DE short limbs and trunk with barrel-shaped chest. The radiographic
DE phenotype includes platyspondyly, generalized abnormalities of the
DE epiphyses and metaphyses, and a distinctive lacy appearance of the
DE iliac crest.
SY SMC.
SY Smith-McCort dysplasia.
DR MIM; 607326; phenotype.
DR MedGen; C1846431.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Smith-McCort dysplasia 2.
AC DI-03716
AR SMC2.
DE A rare autosomal recessive osteochondrodysplasia with skeletal
DE features identical to those of Dyggve-Melchior-Clausen syndrome, but
DE with normal intelligence and no microcephaly. It is characterized by
DE short limbs and trunk with barrel-shaped chest. The radiographic
DE phenotype includes platyspondyly, generalized abnormalities of the
DE epiphyses and metaphyses, and a distinctive lacy appearance of the
DE iliac crest.
DR MIM; 615222; phenotype.
DR MedGen; C3714896.
DR MedGen; CN169378.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Sneddon syndrome.
AC DI-04206
AR SNDNS.
DE An autosomal recessive, systemic non-inflammatory thrombotic
DE vasculopathy characterized by the association of livedo racemosa, and
DE in some cases livedo reticularis, with cerebrovascular disease. Livedo
DE racemosa is a persistent net-like violaceous-cyanotic, mottled
DE discoloration of the skin affecting the legs, the arms, the buttocks
DE and the trunk; livedo reticularis is limited to the extremities and is
DE visible only in the cold. Cerebrovascular features include recurrent
DE transient ischemic attacks, infarcts, and rarely spinal strokes or
DE intracranial or subarachnoid hemorrhages. Headache and vertigo may
DE precede the onset of livedo racemosa and cerebrovascular
DE manifestations by several years. Rare neurologic symptoms include
DE seizures, chorea, or myelopathies.
SY Livedo reticularis and cerebrovascular accidents.
DR MIM; 182410; phenotype.
DR MedGen; C0282492.
DR MeSH; D018860.
//
ID Snijders Blok-Campeau syndrome.
AC DI-05430
AR SNIBCPS.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE intellectual disability with a wide range of severity, developmental
DE delay, and impaired speech and language skills. Speech-related
DE problems include dysarthria, speech apraxia, oromotor problems, and
DE stuttering. Additional clinical features are macrocephaly,
DE characteristic facial features such as prominent forehead and
DE hypertelorism, hypotonia, and joint laxity.
SY IDDMSF.
SY Intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies.
DR MIM; 618205; phenotype.
DR MedGen; CN257491.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Snijders Blok-Fisher syndrome.
AC DI-05670
AR SNIBFIS.
DE An autosomal dominant neurodevelopmental disorder characterized by
DE global developmental delay, hypotonia, intellectual disability,
DE autistic features, impairments in speech and language skills, and
DE dysmorphic features including abnormal, cupped, or prominent ears and
DE ocular anomalies.
DR MIM; 618604; phenotype.
DR MedGen; CN262354.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Snowflake vitreoretinal degeneration.
AC DI-02314
AR SVD.
DE Developmental and progressive hereditary eye disorder that affects
DE multiple tissues within the eye. Diagnostic features of SVD include
DE fibrillar degeneration of the vitreous humor, early-onset cataract,
DE minute crystalline deposits in the neurosensory retina, and retinal
DE detachment.
DR MIM; 193230; phenotype.
DR MedGen; C1860405.
//
ID Solitary median maxillary central incisor.
AC DI-02316
AR SMMCI.
DE Rare dental anomaly characterized by the congenital absence of one
DE maxillary central incisor.
DR MIM; 147250; phenotype.
DR MedGen; C1840235.
//
ID Sorbitol dehydrogenase deficiency with peripheral neuropathy.
AC DI-05855
AR SORDD.
DE An autosomal recessive disorder characterized by motor axonal
DE neuropathy, slowly progressive distal muscle weakness mainly affecting
DE the lower limbs, difficulty walking, and increased serum sorbitol.
DE Additional variable features are distal sensory impairment, upper limb
DE tremor, scoliosis, and mild hearing loss.
DR MIM; 618912; phenotype.
DR MedGen; CN282601.
DR MeSH; D002239.
DR MeSH; D009468.
KW KW-0622:Neuropathy.
//
ID Sorsby fundus dystrophy.
AC DI-02317
AR SFD.
DE Rare autosomal dominant macular disorder with an age of onset in the
DE fourth decade. It is characterized by loss of central vision from
DE subretinal neovascularization and atrophy of the ocular tissues.
DE Generally, macular disciform degeneration develops in the patients eye
DE within 6 months to 6 years.
SY Fundus dystrophy, pseudoinflammatory, of Sorsby.
SY Macular dystrophy, hemorrhagic.
DR MIM; 136900; phenotype.
DR MedGen; C1850938.
DR MeSH; D008268.
//
ID Sotos syndrome.
AC DI-02318
AR SOTOS.
DE An autosomal dominant, childhood overgrowth syndrome characterized by
DE pre- and postnatal overgrowth, developmental delay, intellectual
DE disability, advanced bone age, and abnormal craniofacial morphology
DE including macrodolichocephaly with frontal bossing, frontoparietal
DE sparseness of hair, apparent hypertelorism, downslanting palpebral
DE fissures, and facial flushing. Common oral findings include: premature
DE eruption of teeth; high, arched palate; pointed chin and, more rarely,
DE prognathism.
SY Cerebral gigantism.
SY Chromosome 5q35 deletion syndrome.
SY SOTOS1.
SY Sotos syndrome 1.
DR MIM; 117550; phenotype.
DR MedGen; C0175695.
DR MeSH; D058495.
//
ID Spastic ataxia 1, autosomal dominant.
AC DI-04137
AR SPAX1.
DE An autosomal dominant form of spastic ataxia, a progressive
DE neurodegenerative disorder characterized by lower-limb spasticity and
DE generalized ataxia with dysarthria, impaired ocular movements, and
DE gait disturbance.
DR MIM; 108600; phenotype.
DR MedGen; C1970107.
DR MeSH; D002524.
KW KW-0523:Neurodegeneration.
//
ID Spastic ataxia 2, autosomal recessive.
AC DI-04016
AR SPAX2.
DE A neurologic disorder characterized by cerebellar ataxia, dysarthria,
DE and variable spasticity of the lower limbs. Cognition is not affected.
DR MIM; 611302; phenotype.
DR MedGen; C1969796.
DR MeSH; D002524.
KW KW-0523:Neurodegeneration.
//
ID Spastic ataxia 3, autosomal recessive.
AC DI-04017
AR SPAX3.
DE A neurologic disorder characterized by cerebellar ataxia, ataxic gait,
DE spasticity, and hyperreflexia. Other variable features include
DE dysarthria, dysmetria, mild cognitive impairment, urinary urgency and
DE dystonic positioning.
DR MIM; 611390; phenotype.
DR MedGen; C1969645.
DR MeSH; D002524.
KW KW-0523:Neurodegeneration.
//
ID Spastic ataxia 4, autosomal recessive.
AC DI-02952
AR SPAX4.
DE A slowly progressive neurodegenerative disease characterized by
DE cerebellar ataxia, spastic paraparesis, dysarthria, and optic atrophy.
DR MIM; 613672; phenotype.
DR MedGen; C3150925.
DR MeSH; D002524.
KW KW-0523:Neurodegeneration.
//
ID Spastic ataxia 5, autosomal recessive.
AC DI-03374
AR SPAX5.
DE A neurodegenerative disorder characterized by early onset spasticity,
DE peripheral neuropathy, ptosis, oculomotor apraxia, dystonia,
DE cerebellar atrophy, and progressive myoclonic epilepsy.
DR MIM; 614487; phenotype.
DR MedGen; C3280977.
DR MeSH; D002524.
KW KW-0523:Neurodegeneration.
//
ID Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy.
AC DI-05033
AR SPAX8.
DE An autosomal recessive neurodegenerative disorder characterized by
DE early-onset hypotonia which progresses to a pyramidal syndrome with
DE ataxia, spasticity, hyperreflexia, weakness and loss of ambulation.
DE Brain imaging shows cerebellar atrophy and hypomyelinating
DE leukodystrophy.
DR MIM; 617560; phenotype.
DR MedGen; CN303160.
DR MeSH; D020279.
KW KW-0523:Neurodegeneration.
KW KW-1026:Leukodystrophy.
//
ID Spastic ataxia 9, autosomal recessive.
AC DI-05572
AR SPAX9.
DE An autosomal recessive disorder characterized by onset of spastic
DE ataxia in the first years of life. Clinical features include motor
DE neuropathy, cerebellar atrophy, spastic paraparesis, intellectual
DE disability, slow ocular saccades, axial hypotonia, distal muscle
DE weakness and atrophy, and pyramidal symptoms, including hyperreflexia
DE and extensor plantar responses.
DR MIM; 618438; phenotype.
DR MedGen; CN258762.
DR MeSH; D002524.
DR MeSH; D015419.
KW KW-0523:Neurodegeneration.
//
ID Spastic ataxia Charlevoix-Saguenay type.
AC DI-01259
AR SACS.
DE A neurodegenerative disease characterized by early-onset cerebellar
DE ataxia, spasticity, retinal hypermyelination, pyramidal signs, and
DE both axonal and demyelinating neuropathy with loss of sensory nerve
DE conduction and reduced motor conduction velocities. Other features
DE include dysarthria, distal muscle wasting, nystagmus, defect in
DE conjugate pursuit ocular movements, retinal striation (from prominent
DE retinal nerves) obscuring the retinal blood vessels in places, and the
DE frequent presence of mitral valve prolapse.
SY ARSACS.
SY Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
SY Spastic ataxia 6, autosomal recessive.
SY SPAX6.
DR MIM; 270550; phenotype.
DR MedGen; C1849140.
DR MeSH; D002524.
KW KW-0523:Neurodegeneration.
//
ID Spastic paraplegia 1, X-linked.
AC DI-01051
AR SPG1.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body.
SY Spastic paraplegia 1.
DR MIM; 303350; phenotype.
DR MedGen; C0795953.
DR MeSH; D010264.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 10, autosomal dominant.
AC DI-02319
AR SPG10.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body.
DR MIM; 604187; phenotype.
DR MedGen; C1858712.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 11, autosomal recessive.
AC DI-01045
AR SPG11.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body.
SY ARHSP-TCC.
SY Autosomal recessive spastic paraplegia with thinning of corpus callosum.
SY HSP-TCC.
SY Spastic paraplegia autosomal recessive complicated with thin corpus callosum.
SY Spastic paraplegia autosomal recessive with mental impairment and thin corpus callosum.
DR MIM; 604360; phenotype.
DR MedGen; C1858479.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 12, autosomal dominant.
AC DI-03410
AR SPG12.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body.
DR MIM; 604805; phenotype.
DR MedGen; C1858106.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 13, autosomal dominant.
AC DI-01039
AR SPG13.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body.
DR MIM; 605280; phenotype.
DR MedGen; C1854467.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 15, autosomal recessive.
AC DI-01046
AR SPG15.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body. SPG15 is a complex
DE form associated with additional neurological symptoms such as
DE cognitive deterioration or intellectual disability, axonal neuropathy,
DE mild cerebellar signs, and, less frequently, a central hearing
DE deficit, decreased visual acuity, or retinal degeneration.
SY Kjellin syndrome.
SY Spastic paraplegia and retinal degeneration.
DR MIM; 270700; phenotype.
DR MedGen; C1849128.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 17, autosomal dominant.
AC DI-01050
AR SPG17.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body. SPG17 is
DE characterized by prominent amyotrophy of the hand muscles, the
DE presence of mild to severe pyramidal tract signs and spastic
DE paraplegia. SPG17 is a motor neuron disease overlapping with distal
DE spinal muscular atrophy type 5.
SY Silver spastic paraplegia syndrome.
SY Silver syndrome.
SY Spastic paraplegia with amyotrophy of hands and feet.
DR MIM; 270685; phenotype.
DR MedGen; C2931276.
DR MeSH; D010264.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 18, autosomal recessive.
AC DI-03411
AR SPG18.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body. SPG18 is a severe
DE form with onset in early childhood. Most affected individuals have
DE severe psychomotor retardation. Some may develop significant joint
DE contractures.
SY IDMDC.
SY Intellectual disability motor dysfunction and joint contractures.
DR MIM; 611225; phenotype.
DR MedGen; C2749936.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 2, X-linked.
AC DI-01052
AR SPG2.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body. SPG2 is characterized
DE by spastic gait and hyperreflexia. In some patients, complicating
DE features include nystagmus, dysarthria, sensory disturbance,
DE intellectual disability, optic atrophy.
SY Spastic paraplegia 2.
SY SPPX2.
DR MIM; 312920; phenotype.
DR MedGen; C1839264.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 20, autosomal recessive.
AC DI-01047
AR SPG20.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body. SPG20 is
DE characterized by dysarthria, distal amyotrophy, mild developmental
DE delay and short stature.
SY Spastic paraparesis childhood-onset with distal muscle wasting.
SY Spastic paraplegia autosomal recessive Troyer type.
SY Troyer syndrome.
SY TRS.
DR MIM; 275900; phenotype.
DR MedGen; C0393559.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 21, autosomal recessive.
AC DI-01048
AR SPG21.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body. SPG21 is associated
DE with dementia and other central nervous system abnormalities. Subtle
DE childhood abnormalities may be present, but the main features develop
DE in early adulthood. The disease is slowly progressive, and cerebellar
DE and extrapyramidal signs are also found in patients with advanced
DE disease. Patients have a thin corpus callosum and white-matter
DE abnormalities.
SY Mast syndrome.
DR MIM; 248900; phenotype.
DR MedGen; C1855346.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 23, autosomal recessive.
AC DI-04976
AR SPG23.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body. SPG23 is an autosomal
DE recessive form characterized by childhood-onset of gait difficulties
DE and pigmentary abnormalities, including premature graying of the hair
DE and vitiligo-like or hyperpigmented skin lesions.
SY Lison syndrome.
SY Spastic paraparesis, vitiligo, premature graying, characteristic facies.
SY Spastic paraplegia with pigmentary abnormalities.
DR MIM; 270750; phenotype.
DR MedGen; C0796019.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 26, autosomal recessive.
AC DI-03866
AR SPG26.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body. SPG26 is a
DE complicated form characterized by onset in the first 2 decades of life
DE of gait abnormalities due to lower limb spasticity and muscle
DE weakness. Some patients have upper limb involvement. Additional
DE features include intellectual disability, peripheral neuropathy,
DE dysarthria, cerebellar signs, extrapyramidal signs, and cortical
DE atrophy. The disorder is slowly progressive.
DR MIM; 609195; phenotype.
DR MedGen; C1836632.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 28, autosomal recessive.
AC DI-03678
AR SPG28.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body. Some SPG28 patients
DE also have distal sensory impairment.
DR MIM; 609340; phenotype.
DR MedGen; C1836295.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 3, autosomal dominant.
AC DI-01035
AR SPG3.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body.
SY Familial spastic paraplegia autosomal dominant 1.
SY FSP1.
SY SPG3A.
SY Strumpell disease.
SY Strumpell-Lorrain syndrome.
DR MIM; 182600; phenotype.
DR MedGen; C2931355.
DR MedGen; CN074283.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 30.
AC DI-03243
AR SPG30.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body. Some SPG30 patients
DE have a pure form of the disorder, limited to spastic paraplegia,
DE whereas others may have a complicated form that includes additional
DE features such as cognitive dysfunction, learning disabilities,
DE peripheral sensorimotor neuropathy, urinary sphincter problems, and/or
DE cerebellar atrophy. SPG30 is characterized by onset in the first or
DE second decades of unsteady spastic gait and hyperreflexia of the lower
DE limbs. Inheritance can be autosomal dominant or autosomal recessive.
DR MIM; 610357; phenotype.
DR MedGen; C1835896.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 31, autosomal dominant.
AC DI-01040
AR SPG31.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body.
DR MIM; 610250; phenotype.
DR MedGen; C1853247.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 33, autosomal dominant.
AC DI-01041
AR SPG33.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body.
DR MIM; 610244; phenotype.
DR MedGen; C1853251.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 35, autosomal recessive, with or without neurodegeneration.
AC DI-02936
AR SPG35.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body. SPG35 is a
DE complicated form characterized by childhood onset of gait
DE difficulties. It has a rapid progression and many patients become
DE wheelchair-bound as young adults. Patients manifest cognitive decline
DE associated with leukodystrophy. Other variable neurologic features,
DE such as dystonia, optic atrophy, and seizures may also occur.
SY FAHN.
SY Fatty acid hydroxylase-associated neurodegeneration.
SY Leukodystrophy dysmyelinating and spastic paraparesis with or without dystonia.
SY Spastic paraplegia 35, autosomal recessive.
DR MIM; 612319; phenotype.
DR MedGen; C2676236.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
KW KW-1026:Leukodystrophy.
//
ID Spastic paraplegia 39, autosomal recessive.
AC DI-01049
AR SPG39.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body. SPG39 is associated
DE with a motor axonopathy affecting upper and lower limbs and resulting
DE in progressive wasting of distal upper and lower extremity muscles.
SY NTEMND.
SY NTE-related motor neuron disorder.
DR MIM; 612020; phenotype.
DR MedGen; C2677586.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 4, autosomal dominant.
AC DI-01036
AR SPG4.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body.
SY Familial spastic paraplegia autosomal dominant 2.
SY FSP2.
DR MIM; 182601; phenotype.
DR MedGen; C1866855.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 42, autosomal dominant.
AC DI-01042
AR SPG42.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body.
DR MIM; 612539; phenotype.
DR MedGen; C2675528.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 43, autosomal recessive.
AC DI-03971
AR SPG43.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body. SP43 is characterized
DE by childhood onset of progressive spasticity affecting the lower and
DE upper limbs.
DR MIM; 615043; phenotype.
DR MedGen; CN164738.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 44, autosomal recessive.
AC DI-02587
AR SPG44.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body.
DR MIM; 613206; phenotype.
DR MedGen; C2750784.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 45, autosomal recessive.
AC DI-04024
AR SPG45.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body. Some SPG45 patients
DE manifest intellectual disability, contractures and learning
DE disability.
DR MIM; 613162; phenotype.
DR MedGen; C2680447.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 46, autosomal recessive.
AC DI-03745
AR SPG46.
DE A neurodegenerative disorder characterized by onset in childhood of
DE slowly progressive spastic paraplegia and cerebellar signs. Some
DE patients have cognitive impairment, cataracts, and cerebral,
DE cerebellar, and corpus callosum atrophy on brain imaging.
DR MIM; 614409; phenotype.
DR MedGen; C2828721.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 47, autosomal recessive.
AC DI-03145
AR SPG47.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. SPG47 is characterized by neonatal hypotonia that
DE progresses to hypertonia and spasticity, and severe intellectual
DE disability with poor or absent speech development.
SY Cerebral palsy, spastic quadriplegic 5.
SY CPSQ5.
DR MIM; 614066; phenotype.
DR MedGen; C3279738.
DR MeSH; D002547.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 48, autosomal recessive.
AC DI-02933
AR SPG48.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body.
DR MIM; 613647; phenotype.
DR MedGen; C3150901.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 50, autosomal recessive.
AC DI-02560
AR SPG50.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body. SPG50 affected
DE individuals present postnatally with early infantile hypotonia,
DE delayed psychomotor development, strabismus, lack of independent
DE walking and severe intellectual disability. They develop progressive
DE spasticity of all limbs with generalized hypertonia, hyperreflexia,
DE and extensor plantar responses by the end of the first year of life.
DE Speech is absent or limited. Pseudobulbar signs, such as drooling,
DE stereotypic laughter, and exaggerated jaw jerk, are part of the
DE clinical picture.
DR MIM; 612936; phenotype.
DR MedGen; C2752008.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 51, autosomal recessive.
AC DI-03061
AR SPG51.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. SPG51 is a non-progressive disorder of movement
DE and/or posture resulting from defects in the developing central
DE nervous system. Affected individuals manifest motor and posture
DE impairments often associated with epilepsy and disturbances of
DE cognition, behavior, sensation, and communication.
SY Cerebral palsy, spastic quadriplegic 4.
SY CPSQ4.
DR MIM; 613744; phenotype.
DR MedGen; C3151056.
DR MeSH; D002547.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 52, autosomal recessive.
AC DI-03146
AR SPG52.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. SPG52 is characterized by neonatal hypotonia that
DE progresses to hypertonia and spasticity, and severe intellectual
DE disability with poor or absent speech development. Some patients may
DE have seizures.
SY Cerebral palsy, spastic quadriplegic 6.
SY CPSQ6.
DR MIM; 614067; phenotype.
DR MedGen; C3279743.
DR MeSH; D002547.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 53, autosomal recessive.
AC DI-03607
AR SPG53.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. Complicated forms are recognized by
DE additional variable features including spastic quadriparesis,
DE seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral
DE or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as
DE well as by extra neurological manifestations. SPG53 is characterized
DE by pronounced early onset spastic paraparesis of upper and lower
DE limbs, mild intellectual disability, kyphosis, pectus carinatum and
DE hypertrichosis.
DR MIM; 614898; phenotype.
DR MedGen; C3539494.
DR MedGen; CN160291.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 54, autosomal recessive.
AC DI-03677
AR SPG54.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. Complicated forms are recognized by
DE additional variable features including spastic quadriparesis,
DE seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral
DE or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as
DE well as by extra neurological manifestations. SPG54 patients have
DE delayed psychomotor development, intellectual disability, and early-
DE onset spasticity of the lower limbs. Brain MRI shows a thin corpus
DE callosum and periventricular white matter lesions.
DR MIM; 615033; phenotype.
DR MedGen; C3539495.
DR MedGen; CN164592.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 55, autosomal recessive.
AC DI-03679
AR SPG55.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. Complicated forms are recognized by
DE additional variable features including spastic quadriparesis,
DE seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral
DE or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as
DE well as by extra neurological manifestations.
DR MIM; 615035; phenotype.
DR MedGen; C3539506.
DR MedGen; CN164593.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 56, autosomal recessive.
AC DI-03680
AR SPG56.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. Complicated forms are recognized by
DE additional variable features including spastic quadriparesis,
DE seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral
DE or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as
DE well as by extra neurological manifestations. In SPG56, upper limbs
DE are often also affected. Some SPG56 patients may have a subclinical
DE axonal neuropathy.
DR MIM; 615030; phenotype.
DR MedGen; C3539507.
DR MedGen; CN164728.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 57, autosomal recessive.
AC DI-04029
AR SPG57.
DE A complicated form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. Complicated forms are recognized by
DE additional variable features including spastic quadriparesis,
DE seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral
DE or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as
DE well as by extra neurological manifestations.
DR MIM; 615658; phenotype.
DR MedGen; C3714897.
DR MedGen; CN184732.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 5A, autosomal recessive.
AC DI-01043
AR SPG5A.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body.
DR MIM; 270800; phenotype.
DR MedGen; C1849115.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 6, autosomal dominant.
AC DI-01037
AR SPG6.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body.
SY Familial spastic paraplegia autosomal dominant 3.
SY FSP3.
DR MIM; 600363; phenotype.
DR MedGen; C1838192.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 61, autosomal recessive.
AC DI-04045
AR SPG61.
DE A complicated form of spastic paraplegia with polysensory and motor
DE neuropathy. Spastic paraplegia is a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body.
DR MIM; 615685; phenotype.
DR MedGen; C3810294.
DR MedGen; CN184980.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 62, autosomal recessive.
AC DI-04732
AR SPG62.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body.
DR MIM; 615681; phenotype.
DR MedGen; CN236705.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 63, autosomal recessive.
AC DI-04057
AR SPG63.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body.
DR MIM; 615686; phenotype.
DR MedGen; C3810295.
DR MedGen; CN184981.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 64, autosomal recessive.
AC DI-04056
AR SPG64.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body.
DR MIM; 615683; phenotype.
DR MedGen; C3810289.
DR MedGen; CN184979.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 7, autosomal recessive.
AC DI-01044
AR SPG7.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body. SPG7 is a complex
DE form. Additional clinical features are cerebellar syndrome,
DE supranuclear palsy, and cognitive impairment, particularly disturbance
DE of attention and executive functions.
DR MIM; 607259; phenotype.
DR MedGen; C1846564.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 72.
AC DI-04028
AR SPG72.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body. SPG72 is a pure form
DE of spastic paraplegia with onset of difficulty walking and stiff legs
DE associated with hyperreflexia and extensor plantar responses in early
DE childhood. Some patients may have pes cavus or sphincter disturbances.
DE Cognition, speech, and ocular function are normal. SPG72 inheritance
DE is autosomal dominant or recessive.
SY Autosomal dominant spastic paraplegia 72.
SY Autosomal recessive spastic paraplegia 72.
SY Spastic paraplegia 72, autosomal dominant.
SY Spastic paraplegia 72, autosomal recessive.
DR MIM; 615625; phenotype.
DR MedGen; C3810161.
DR MedGen; CN184360.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 73, autosomal dominant.
AC DI-04364
AR SPG73.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body.
DR MIM; 616282; phenotype.
DR MedGen; CN228796.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 74, autosomal recessive.
AC DI-04475
AR SPG74.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body. SPG74 is
DE characterized by a combination of spastic paraplegia, optic atrophy,
DE and peripheral neuropathy with childhood-onset and slow progression
DE into late adulthood.
DR MIM; 616451; phenotype.
DR MedGen; CN231443.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 75, autosomal recessive.
AC DI-04593
AR SPG75.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body. SPG75 is
DE characterized by onset in early childhood and is associated with mild
DE to moderate cognitive impairment.
DR MIM; 616680; phenotype.
DR MedGen; CN233361.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 76, autosomal recessive.
AC DI-04733
AR SPG76.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body.
DR MIM; 616907; phenotype.
DR MedGen; CN236413.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 77, autosomal recessive.
AC DI-04770
AR SPG77.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body.
DR MIM; 617046; phenotype.
DR MedGen; CN237808.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 78, autosomal recessive.
AC DI-04938
AR SPG78.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body.
DR MIM; 617225; phenotype.
DR MedGen; CN239936.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 79, autosomal recessive.
AC DI-03925
AR SPG79.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body. SPG79 is
DE characterized by childhood onset blindness, cerebellar ataxia,
DE nystagmus, dorsal column dysfunction, and spasticity with upper motor
DE neuron dysfunction.
SY NDGOA.
SY Neurodegeneration with optic atrophy, childhood-onset.
DR MIM; 615491; phenotype.
DR MedGen; C3809665.
DR MeSH; D015418.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 8, autosomal dominant.
AC DI-01038
AR SPG8.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body.
DR MIM; 603563; phenotype.
DR MedGen; C1863704.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 80, autosomal dominant.
AC DI-05554
AR SPG80.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body.
DR MIM; 618418; phenotype.
DR MedGen; CN258384.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 81, autosomal recessive.
AC DI-05755
AR SPG81.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body. SPG81 is a
DE complicated form characterized by white matter abnormalities,
DE hypomyelination with progressive white matter loss, delayed motor
DE development, progressive spasticity, and impaired intellectual
DE development and speech delay. Additional features may include bifid
DE uvula, microcephaly, seizures, and variable ocular anomalies.
DR MIM; 618768; phenotype.
DR MedGen; CN263276.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 82, autosomal recessive.
AC DI-05756
AR SPG82.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body. SPG82 is a
DE complicated form characterized by global developmental delay with
DE regression, spastic para- or tetraparesis, epilepsy and progressive
DE cerebral and cerebellar atrophy.
DR MIM; 618770; phenotype.
DR MedGen; CN263277.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 83, autosomal recessive.
AC DI-05923
AR SPG83.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body. SPG83 is
DE characterized by juvenile onset of progressive lower limb spasticity
DE resulting in gait instability.
DR MIM; 619027; phenotype.
DR MedGen; CN283414.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 84, autosomal recessive.
AC DI-06273
AR SPG84.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body. SPG84 is
DE characterized by onset of slowly progressive walking difficulties due
DE to lower limb weakness, stiffness, and spasticity in the first 2
DE decades of life.
DR MIM; 619621; phenotype.
DR MedGen; CN304704.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 85, autosomal recessive.
AC DI-06303
AR SPG85.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body. SPG85 is an autosomal
DE recessive form characterized by onset of motor symptoms in the first
DE few years of life. Patients may have upper limb involvement and
DE demonstrate axonal polyneuropathy. Additional features include optic
DE atrophy, dysarthria, dysphagia, ataxia, and urinary incontinence.
DE Brain imaging may show cerebellar atrophy.
DR MIM; 619686; phenotype.
DR MedGen; CN305737.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 86, autosomal recessive.
AC DI-06330
AR SPG86.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body. SPG86 is an autosomal
DE recessive form associated with impaired intellectual development, poor
DE or absent speech, and behavioral abnormalities. Brain imaging shows
DE thin corpus callosum and white matter abnormalities. Rare patients may
DE have seizures.
DR MIM; 619735; phenotype.
DR MedGen; CN306413.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 9A, autosomal dominant.
AC DI-04556
AR SPG9A.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body. SPG9A patients have
DE gait difficulties, motor neuropathy, and dysarthria. Additional
DE variable features include cerebellar signs, cataract, pes cavus, and
DE urinary urgency.
SY Cataracts with motor neuronopathy, short stature, and skeletal abnormalities.
SY Spastic paraparesis with amyopathy, cataracts, and gastroesophageal reflux.
DR MIM; 601162; phenotype.
DR MedGen; C1832669.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia 9B, autosomal recessive.
AC DI-04557
AR SPG9B.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body. SPG9B is a complex
DE form characterized by delayed psychomotor development, intellectual
DE disability, and severe motor impairment. Dysmorphic facial features,
DE tremor, and urinary incontinence are variably observed in SPG9B
DE patients.
DR MIM; 616586; phenotype.
DR MedGen; CN233140.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia and psychomotor retardation with or without seizures.
AC DI-04637
AR SPPRS.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body. SPPRS is an autosomal
DE recessive neurodevelopmental disorder manifesting in infancy. Affected
DE individuals show hypotonia and psychomotor retardation. Most develop
DE seizures.
DR MIM; 616756; phenotype.
DR MedGen; CN235103.
DR MeSH; D015419.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic paraplegia, intellectual disability, nystagmus, and obesity.
AC DI-04932
AR SINO.
DE An autosomal dominant syndrome characterized by rapid growth in
DE infancy, obesity, global developmental delay, intellectual disability,
DE spastic paraplegia, ocular defects, and dysmorphic facial features.
DR MIM; 617296; phenotype.
DR MedGen; CN239947.
DR MeSH; D000015.
KW KW-0550:Obesity.
KW KW-0890:Hereditary spastic paraplegia.
KW KW-0991:Intellectual disability.
//
ID Spastic paraplegia, optic atrophy, and neuropathy.
AC DI-04659
AR SPOAN.
DE A form of spastic paraplegia, a neurodegenerative disorder
DE characterized by a slow, gradual, progressive weakness and spasticity
DE of the lower limbs. Rate of progression and the severity of symptoms
DE are quite variable. Initial symptoms may include difficulty with
DE balance, weakness and stiffness in the legs, muscle spasms, and
DE dragging the toes when walking. In some forms of the disorder, bladder
DE symptoms (such as incontinence) may appear, or the weakness and
DE stiffness may spread to other parts of the body. SPOAN is
DE characterized by spastic paraplegia with progressive joint
DE contractures and spine deformities, loss of independent ambulation by
DE age 10 years, sub-normal vision secondary to congenital optic atrophy,
DE and neuropathy. Inheritance is autosomal recessive.
DR MIM; 609541; phenotype.
DR MedGen; C1836010.
DR MeSH; D015419.
KW KW-0622:Neuropathy.
KW KW-0890:Hereditary spastic paraplegia.
//
ID Spastic tetraplegia and axial hypotonia, progressive.
AC DI-05666
AR STAHP.
DE An autosomal recessive, neurologic disorder characterized by loss of
DE motor abilities in the first year of life, after which severe,
DE progressive spastic tetraparesis develops. Affected individuals have
DE severe axial hypotonia, hyperekplexia, hypertonia, and myokymia,
DE reflecting upper motor neuron involvement. Cognitive development may
DE be affected.
SY SOD1 deficiency, autosomal recessive.
DR MIM; 618598; phenotype.
DR MedGen; CN262331.
DR MeSH; D011782.
//
ID Spastic tetraplegia, thin corpus callosum, and progressive microcephaly.
AC DI-04580
AR SPATCCM.
DE A neurodevelopmental disorder characterized by thin corpus callosum,
DE severe progressive microcephaly, severe intellectual disability,
DE seizures, spasticity, and global developmental delay. Most patients
DE are unable to achieve independent walking or speech.
DR MIM; 616657; phenotype.
DR MedGen; CN233337.
DR MeSH; D008607.
DR MeSH; D008831.
DR MeSH; D011782.
DR MeSH; D012640.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Spasticity, childhood-onset, with hyperglycinemia.
AC DI-04680
AR SPAHGC.
DE An autosomal recessive disorder characterized by childhood-onset of
DE spasticity, spinal lesions, leukodystrophy, optic atrophy in some
DE patients, non-ketotic hyperglycinemia, and defective enzymatic glycine
DE cleavage. Glycine levels in the cerebrospinal fluid are mildly
DE increased in some but not all patients. The increase is less
DE pronounced than in patients with classic non-ketotic hyperglycinemia.
DR MIM; 616859; phenotype.
DR MedGen; CN235584.
DR MeSH; D020158.
//
ID Specific granule deficiency 1.
AC DI-04999
AR SGD1.
DE An autosomal recessive disorder characterized by recurrent pyogenic
DE infections, defective neutrophil chemotaxis and bactericidal activity,
DE and lack of neutrophil secondary granule proteins. Neutrophils of
DE affected individuals lack lactoferrin and show abnormal nuclear
DE segmentation, bilobed nuclei, low alkaline phosphatase, and increased
DE number of neutrophil mitochondria and ribosomes.
DR MIM; 245480; phenotype.
DR MedGen; C0398593.
DR MeSH; D007960.
//
ID Specific granule deficiency 2.
AC DI-05000
AR SGD2.
DE A form of specific granule deficiency, an autosomal recessive disorder
DE characterized by recurrent pyogenic infections, defective neutrophil
DE chemotaxis and bactericidal activity, and lack of neutrophil secondary
DE granule proteins. SGD2 is due to defective neutrophil development.
DE Bone marrow findings include hypercellularity, abnormal
DE megakaryocytes, and features of progressive myelofibrosis with blasts.
DE Some patients may have additional findings, including delayed
DE development, mild dysmorphic features, and distal skeletal anomalies.
DR MIM; 617475; phenotype.
DR MedGen; CN244006.
DR MeSH; D007960.
//
ID Specific language impairment 5.
AC DI-03910
AR SLI5.
DE A disorder characterized by a delay in early speech acquisition. It is
DE usually associated with cerebral white matter abnormalities on brain
DE MRI. Some individuals may show disorders in communication, consistent
DE with autism spectrum disorder, or global developmental delay, although
DE others ultimately show normal cognitive function. Penetrance is
DE incomplete and expressivity is variable.
DR MIM; 615432; phenotype.
DR MedGen; C3809483.
DR MedGen; CN180183.
DR MeSH; D007805.
KW KW-1268:Autism spectrum disorder.
//
ID Speech-language disorder 1.
AC DI-02320
AR SPCH1.
DE A disorder characterized by severe orofacial dyspraxia resulting in
DE largely incomprehensible speech. Affected individuals have severe
DE impairment in the selection and sequencing of fine orofacial movements
DE which are necessary for articulation, and deficits in several facets
DE of grammatical skills and language processing, such as the ability to
DE break up words into their constituent phonemes.
SY Autosomal dominant speech and language disorder with orofacial dyspraxia.
SY CAS.
SY Childhood apraxia of speech.
SY Developmental verbal dyspraxia.
SY DVD.
DR MIM; 602081; phenotype.
DR MedGen; C0750927.
DR MedGen; CN032592.
DR MeSH; D001072.
DR MeSH; D013064.
//
ID Spermatogenic failure 1.
AC DI-05773
AR SPGF1.
DE An infertility disorder characterized by azoospermia due to
DE spermatogenic arrest during meiosis. Meiotic arrest is characterized
DE by germ cells that enter meiosis and undergo the first chromosomal
DE reduction from 4n to 2n, but that are then unable to proceed further.
DE This results in tubules containing spermatocytes as the latest
DE developmental stage of germ cells. Meiotically arrested spermatocytes
DE accumulate in the tubules and degenerate. Both autosomal recessive and
DE autosomal dominant inheritance have been reported.
SY Oligochiasmic infertility.
SY Oligosynaptic infertility.
DR MIM; 258150; phenotype.
DR MedGen; C0403810.
DR MeSH; D007248.
//
ID Spermatogenic failure 10.
AC DI-03528
AR SPGF10.
DE An infertility disorder caused by spermatogenesis defects. It results
DE in decreased sperm motility, concentration, and multiple sperm
DE structural defects. The most prominent feature is a defective sperm
DE annulus, a ring structure that demarcates the midpiece and the
DE principal piece of the sperm tail.
SY Spermatogenic failure with defective sperm annulus.
DR MIM; 614822; phenotype.
DR MedGen; C3553793.
DR MedGen; CN143723.
DR MeSH; D007248.
//
ID Spermatogenic failure 11.
AC DI-03655
AR SPGF11.
DE An infertility disorder caused by spermatogenesis defects. It results
DE in decreased sperm motility, concentration, and multiple sperm
DE structural defects. Oligozoospermia is usually observed in SPGF11
DE patients. In addition to oligozoospermia, teratozoospermia and
DE moderate asthenozoospermia is observed in some cases.
DR MIM; 615081; phenotype.
DR MedGen; C3554453.
DR MedGen; CN165619.
DR MeSH; D007248.
//
ID Spermatogenic failure 12.
AC DI-03877
AR SPGF12.
DE An infertility disorder caused by spermatogenesis defects. It results
DE in decreased sperm motility, concentration, and multiple sperm
DE structural defects. Non-obstructive azoospermia, oligozoospermia and
DE oligo-astheno-teratozoospermia are features observed in SPGF12
DE patients.
DR MIM; 615413; phenotype.
DR MedGen; C3809427.
DR MedGen; CN180042.
DR MeSH; D007248.
//
ID Spermatogenic failure 13.
AC DI-04119
AR SPGF13.
DE A disorder resulting in the absence (azoospermia) or reduction
DE (oligozoospermia) of sperm in the semen, leading to male infertility.
DR MIM; 615841; phenotype.
DR MedGen; CN188726.
DR MeSH; D009845.
DR MeSH; D053713.
//
ID Spermatogenic failure 14.
AC DI-04124
AR SPGF14.
DE A disorder resulting in the absence (azoospermia) or reduction
DE (oligozoospermia) of sperm in the semen, leading to male infertility.
DR MIM; 615842; phenotype.
DR MedGen; CN188727.
DR MeSH; D009845.
DR MeSH; D053713.
//
ID Spermatogenic failure 16.
AC DI-04878
AR SPGF16.
DE An infertility disorder caused by spermatogenesis defects and
DE characterized by abnormally shaped spermatozoa in the semen of
DE affected individuals. Most spermatozoa are made up of headless tails,
DE while a small proportion has an abnormal head-tail junction. A few
DE spermatozoa are made up of tailless heads.
SY Acephalic spermatozoa syndrome.
DR MIM; 617187; phenotype.
DR MedGen; CN239047.
DR MeSH; D007248.
//
ID Spermatogenic failure 17.
AC DI-04868
AR SPGF17.
DE An autosomal recessive infertility disorder due to failure of oocyte
DE activation and fertilization by sperm that otherwise exhibits normal
DE morphology.
SY Male infertility due to oocyte activation failure.
DR MIM; 617214; phenotype.
DR MedGen; CN239094.
DR MeSH; D007248.
//
ID Spermatogenic failure 18.
AC DI-05027
AR SPGF18.
DE An infertility disorder caused by spermatogenesis defects and
DE characterized by abnormally shaped spermatozoa in the semen of
DE affected individuals. SPGF18 patients present with primary infertility
DE and multiple morphological abnormalities of sperm flagella that result
DE in impaired sperm mobility. Abnormalities include absent, short,
DE coiled, bent, and irregular flagella. SPGF18 inheritance is autosomal
DE recessive.
DR MIM; 617576; phenotype.
DR MedGen; CN337166.
DR MeSH; D007248.
//
ID Spermatogenic failure 19.
AC DI-05026
AR SPGF19.
DE An infertility disorder caused by spermatogenesis defects and
DE characterized by abnormally shaped spermatozoa in the semen of
DE affected individuals. SPGF19 patients have spermatozoa with absent,
DE short, coiled, bent, and/or irregular-caliber flagella, which impair
DE sperm motility.
DR MIM; 617592; phenotype.
DR MedGen; CN349872.
DR MeSH; D007248.
//
ID Spermatogenic failure 20.
AC DI-05028
AR SPGF20.
DE An infertility disorder caused by spermatogenesis defects and
DE characterized by abnormally shaped spermatozoa in the semen of
DE affected individuals. SPGF20 patients have spermatozoa with absent,
DE short, coiled, bent, and/or irregular-caliber flagella, which impair
DE sperm motility.
DR MIM; 617593; phenotype.
DR MedGen; CN349873.
DR MeSH; D007248.
//
ID Spermatogenic failure 21.
AC DI-05077
AR SPGF21.
DE An infertility disorder caused by spermatogenesis defects and
DE characterized by acephalic spermatozoa in the semen of affected
DE individuals. SPGF21 inheritance is autosomal recessive.
DR MIM; 617644; phenotype.
DR MedGen; CN424852.
DR MeSH; D007248.
//
ID Spermatogenic failure 22.
AC DI-05083
AR SPGF22.
DE An infertility disorder caused by spermatogenesis defects that result
DE in non-obstructive azoospermia.
DR MIM; 617706; phenotype.
DR MedGen; CN502747.
DR MeSH; D007248.
//
ID Spermatogenic failure 23.
AC DI-05085
AR SPGF23.
DE An infertility disorder caused by spermatogenesis defects that result
DE in non-obstructive azoospermia.
DR MIM; 617707; phenotype.
DR MedGen; CN502748.
DR MeSH; D007248.
//
ID Spermatogenic failure 24.
AC DI-05256
AR SPGF24.
DE An autosomal recessive infertility disorder caused by spermatogenesis
DE defects that result in multiple morphologic abnormalities of the
DE flagella, including absent, short, coiled, bent, and irregular-caliber
DE flagella. Malformations of the sperm head have also been observed. In
DE addition, patients exhibit very low sperm concentrations and total
DE sperm counts per ejaculate.
DR MIM; 617959; phenotype.
DR MedGen; CN244570.
DR MeSH; D007248.
//
ID Spermatogenic failure 25.
AC DI-05242
AR SPGF25.
DE An autosomal recessive infertility disorder caused by spermatogenesis
DE defects that result in severe oligozoospermia or azoospermia.
DR MIM; 617960; phenotype.
DR MedGen; CN244572.
DR MeSH; D007248.
//
ID Spermatogenic failure 26.
AC DI-05243
AR SPGF26.
DE An autosomal recessive infertility disorder caused by spermatogenesis
DE defects that result in acephalic spermatozoa.
DR MIM; 617961; phenotype.
DR MedGen; CN244573.
DR MeSH; D007248.
//
ID Spermatogenic failure 27.
AC DI-05244
AR SPGF27.
DE An autosomal recessive infertility disorder caused by spermatogenesis
DE defects that result in multiple morphologic abnormalities of the sperm
DE flagella, including short, irregular, coiled, or absent flagella.
DR MIM; 617965; phenotype.
DR MedGen; CN244916.
DR MeSH; D007248.
//
ID Spermatogenic failure 28.
AC DI-05308
AR SPGF28.
DE An autosomal recessive infertility disorder caused by spermatogenesis
DE defects that result in oligoasthenospermia or non-obstructive
DE azoospermia.
DR MIM; 618086; phenotype.
DR MedGen; CN252694.
DR MeSH; D007248.
//
ID Spermatogenic failure 29.
AC DI-05313
AR SPGF29.
DE An autosomal recessive infertility disorder caused by spermatogenesis
DE defects that result in non-obstructive azoospermia or oligozoospermia.
DE When produced, spermatozoa are immotile and have abnormal morphology,
DE primarily defects of the acrosome and head-neck junction.
DR MIM; 618091; phenotype.
DR MedGen; CN252705.
DR MeSH; D007248.
//
ID Spermatogenic failure 3.
AC DI-03796
AR SPGF3.
DE A disorder characterized by primary infertility, sperm morphologic
DE abnormalities, and moderate to severe asthenozoospermia, condition in
DE which the percentage of progressively motile sperm is abnormally low.
DR MIM; 606766; phenotype.
DR MedGen; C1847540.
DR MeSH; D053627.
//
ID Spermatogenic failure 30.
AC DI-05324
AR SPGF30.
DE An autosomal recessive infertility disorder caused by spermatogenesis
DE defects that result in non-obstructive azoospermia or
DE cryptozoospermia.
DR MIM; 618110; phenotype.
DR MedGen; CN253819.
DR MeSH; D007248.
//
ID Spermatogenic failure 31.
AC DI-05314
AR SPGF31.
DE An autosomal recessive infertility disorder caused by spermatogenesis
DE defects that result in oligozoospermia with a high proportion of
DE acephalic sperm.
DR MIM; 618112; phenotype.
DR MedGen; CN253820.
DR MeSH; D007248.
//
ID Spermatogenic failure 32.
AC DI-05325
AR SPGF32.
DE An autosomal dominant infertility disorder caused by spermatogenesis
DE defects that result in non-obstructive azoospermia.
DR MIM; 618115; phenotype.
DR MedGen; CN253828.
DR MeSH; D007248.
//
ID Spermatogenic failure 33.
AC DI-05350
AR SPGF33.
DE An autosomal recessive infertility disorder caused by spermatogenesis
DE defects that result in multiple abnormalities of sperm flagellum,
DE including short, bent, curled, thick, or absent flagella.
DR MIM; 618152; phenotype.
DR MedGen; CN257742.
DR MeSH; D007248.
//
ID Spermatogenic failure 34.
AC DI-05351
AR SPGF34.
DE An autosomal recessive infertility disorder caused by spermatogenesis
DE defects that result in multiple abnormalities of sperm flagellum,
DE including irregular-caliber, short, coiled, or absent flagella.
DR MIM; 618153; phenotype.
DR MedGen; CN257743.
DR MeSH; D007248.
//
ID Spermatogenic failure 35.
AC DI-05484
AR SPGF35.
DE An autosomal recessive infertility disorder caused by spermatogenesis
DE defects that result in multiple abnormalities of sperm flagellum and
DE severely impaired spermatozoa motility.
DR MIM; 618341; phenotype.
DR MedGen; CN258225.
DR MeSH; D007248.
//
ID Spermatogenic failure 36.
AC DI-05555
AR SPGF36.
DE An autosomal dominant infertility disorder due to teratozoospermia,
DE with spermatozoa showing anomalies of the head, acrosome, and nucleus.
DR MIM; 618420; phenotype.
DR MedGen; CN258375.
DR MeSH; D007248.
//
ID Spermatogenic failure 37.
AC DI-05556
AR SPGF37.
DE An autosomal recessive infertility disorder characterized by
DE asthenoteratozoospermia. Spermatozoa exhibit multiple morphologic
DE abnormalities, primarily consisting of short or absent flagella, and
DE neck defects at the head-tail junction.
DR MIM; 618429; phenotype.
DR MedGen; CN258386.
DR MeSH; D007248.
//
ID Spermatogenic failure 38.
AC DI-05557
AR SPGF38.
DE An autosomal recessive infertility disorder characterized by
DE asthenoteratozoospermia. Spermatozoa exhibit multiple morphologic
DE abnormalities including short, absent, coiled, bent, or irregular-
DE caliber flagella.
DR MIM; 618433; phenotype.
DR MedGen; CN258390.
DR MeSH; D007248.
//
ID Spermatogenic failure 39.
AC DI-05668
AR SPGF39.
DE An autosomal recessive infertility disorder characterized by
DE asthenoteratozoospermia. Spermatozoa exhibit multiple morphologic
DE anomalies including short, absent, irregularly shaped and coiled
DE flagella, and abnormalities of the head and midpiece.
DR MIM; 618643; phenotype.
DR MedGen; CN263107.
DR MeSH; D007248.
//
ID Spermatogenic failure 4.
AC DI-02748
AR SPGF4.
DE An infertility disorder characterized by azoospermia, a condition of
DE having no sperm present in the ejaculate. Testicular histology shows
DE arrest of spermatogenesis at the pachytene stage of primary
DE spermatocytes.
SY Azoospermia due to perturbations of meiosis.
SY Azoospermia with maturation arrest.
SY Spermatogenesis arrest.
DR MIM; 270960; phenotype.
DR MedGen; C0232981.
DR MedGen; C3279437.
DR MeSH; D053713.
//
ID Spermatogenic failure 40.
AC DI-05693
AR SPGF40.
DE An autosomal recessive infertility disorder characterized by severely
DE reduced or absent sperm motility, due to multiple morphologic
DE anomalies such as absent, short, bent, coiled and irregular-caliber
DE tails. Patient spermatozoa may also show morphologic defects of the
DE sperm head.
DR MIM; 618664; phenotype.
DR MedGen; CN262872.
DR MeSH; D007248.
//
ID Spermatogenic failure 41.
AC DI-05694
AR SPGF41.
DE An autosomal recessive infertility disorder characterized by
DE oligozoospermia, severe asthenozoospermia and flagellar abnormalities
DE such as short, absent, coiled, and irregular-caliber flagella. Some
DE sperm show tapered heads and acrosomal abnormalities.
DR MIM; 618670; phenotype.
DR MedGen; CN262873.
DR MeSH; D007248.
//
ID Spermatogenic failure 42.
AC DI-05739
AR SPGF42.
DE An autosomal recessive infertility disorder characterized by almost
DE immotile spermatozoa due to multiple morphologic abnormalities of the
DE flagella, including short, absent, coiled, and bent flagella. Some
DE spermatozoa also show abnormalities of the head, acrosome, midpiece,
DE or endpiece.
DR MIM; 618745; phenotype.
DR MedGen; CN263203.
DR MeSH; D007248.
//
ID Spermatogenic failure 43.
AC DI-05740
AR SPGF43.
DE An autosomal recessive infertility disorder characterized by
DE asthenospermia due to multiple morphologic abnormalities of sperm
DE flagella, including short, absent, coiled, and bent flagella.
DR MIM; 618751; phenotype.
DR MedGen; CN263214.
DR MeSH; D007248.
//
ID Spermatogenic failure 44.
AC DI-05927
AR SPGF44.
DE An autosomal recessive infertility disorder caused by spermatogenesis
DE defects and characterized by the presence of acephalic spermatozoa in
DE the semen of affected individuals.
DR MIM; 619044; phenotype.
DR MedGen; CN293344.
DR MeSH; D007248.
//
ID Spermatogenic failure 45.
AC DI-05965
AR SPGF45.
DE An autosomal recessive infertility disorder caused by spermatogenesis
DE defects resulting in severe teratozoospermia. SPGF45 is characterized
DE by multiple morphologic abnormalities of spermatozoa flagella. Some
DE spermatozoa also show abnormalities of the head.
DR MIM; 619094; phenotype.
DR MedGen; CN293455.
DR MeSH; D007248.
//
ID Spermatogenic failure 46.
AC DI-05966
AR SPGF46.
DE An autosomal recessive infertility disorder caused by spermatogenesis
DE defects resulting in asthenoteratozoospermia. SPGF46 is characterized
DE by multiple morphologic abnormalities of sperm flagella with
DE disorganization of axonemal and periaxonemal structures. Flagella are
DE absent, short, coiled, angulated, and/or of irregular caliber.
DR MIM; 619095; phenotype.
DR MedGen; CN293456.
DR MeSH; D007248.
//
ID Spermatogenic failure 47.
AC DI-05967
AR SPGF47.
DE An autosomal recessive infertility disorder caused by spermatogenesis
DE defects resulting in asthenoteratozoospermia. SPGF47 is characterized
DE by reduced sperm concentrations and immotile spermatozoa, with short
DE or absent flagella as well as centriolar abnormalities.
DR MIM; 619102; phenotype.
DR MedGen; CN293511.
DR MeSH; D007248.
//
ID Spermatogenic failure 48.
AC DI-05968
AR SPGF48.
DE An autosomal recessive infertility disorder caused by spermatogenesis
DE defects resulting in non-obstructive azoospermia.
DR MIM; 619108; phenotype.
DR MedGen; CN293534.
DR MeSH; D007248.
//
ID Spermatogenic failure 49.
AC DI-05976
AR SPGF49.
DE An autosomal recessive infertility disorder characterized by
DE asthenoteratozoospermia and multiple morphologic abnormalities of the
DE sperm flagella, primarily coiled and short flagella, with markedly
DE reduced or absent motility.
DR MIM; 619144; phenotype.
DR MedGen; CN293615.
DR MeSH; D007248.
//
ID Spermatogenic failure 5.
AC DI-01927
AR SPGF5.
DE An infertility disorder caused by spermatogenesis defects. Semen from
DE affected men show close to 100% morphologically abnormal
DE multiflagellar spermatozoa with low motility, oversized irregular
DE heads, and abnormal midpiece and acrosome.
SY Infertility associated with multi-tailed spermatozoa and excessive DNA.
SY Male infertility with large-headed multiflagellar polyploid spermatozoa.
DR MIM; 243060; phenotype.
DR MedGen; C0403812.
DR MeSH; D007248.
//
ID Spermatogenic failure 50.
AC DI-05977
AR SPGF50.
DE An autosomal recessive infertility disorder characterized by
DE azoospermia due to meiotic arrest at the zygotene stage of prophase I.
DR MIM; 619145; phenotype.
DR MedGen; CN293616.
DR MeSH; D007248.
//
ID Spermatogenic failure 51.
AC DI-06022
AR SPGF51.
DE An autosomal recessive infertility disorder characterized by
DE asthenoteratozoospermia. Spermatozoa exhibit multiple morphologic
DE abnormalities, including absent, short, bent, coiled and irregular-
DE caliber flagella. Abnormalities of the sperm head, base, and acrosome
DE have also been observed.
DR MIM; 619177; phenotype.
DR MedGen; CN295265.
DR MeSH; D007248.
//
ID Spermatogenic failure 52.
AC DI-06021
AR SPGF52.
DE An autosomal recessive infertility disorder characterized by
DE azoospermia due to meiotic arrest at the spermatocyte stage.
DR MIM; 619202; phenotype.
DR MedGen; CN295301.
DR MeSH; D007248.
//
ID Spermatogenic failure 53.
AC DI-06072
AR SPGF53.
DE An autosomal recessive infertility disorder characterized by impaired
DE oocyte fertilization due to oocyte activation failure, in association
DE with structural anomalies in sperm heads.
DR MIM; 619258; phenotype.
DR MedGen; CN296166.
DR MeSH; D007248.
//
ID Spermatogenic failure 54.
AC DI-06144
AR SPGF54.
DE An autosomal recessive male infertility disorder characterized by
DE oligoteratoasthenozoospermia.Semen analysis shows markedly reduced
DE sperm counts and severely reduced or absent sperm motility.
DR MIM; 619379; phenotype.
DR MedGen; CN297469.
DR MeSH; D007248.
//
ID Spermatogenic failure 55.
AC DI-06145
AR SPGF55.
DE An autosomal recessive male infertility disorder characterized by
DE asthenozoospermia.Semen analysis shows severely reduced sperm
DE motility.
DR MIM; 619380; phenotype.
DR MedGen; CN297470.
DR MeSH; D007248.
//
ID Spermatogenic failure 56.
AC DI-06189
AR SPGF56.
DE An autosomal recessive male infertility disorder characterized by
DE severely reduced sperm motility, due to multiple morphologic
DE abnormalities of the flagella.
DR MIM; 619515; phenotype.
DR MedGen; CN300395.
DR MeSH; D007248.
//
ID Spermatogenic failure 57.
AC DI-06188
AR SPGF57.
DE An autosomal recessive male infertility disorder characterized by non-
DE obstructive azoospermia, due to error-prone meiosis and spermatogenic
DE arrest at the late pachytene stage.
DR MIM; 619528; phenotype.
DR MedGen; CN300452.
DR MeSH; D007248.
//
ID Spermatogenic failure 58.
AC DI-06203
AR SPGF58.
DE An autosomal recessive male infertility disorder characterized by
DE absent or severely reduced sperm motility, due to multiple
DE morphological abnormalities of the sperm flagellum.
DR MIM; 619585; phenotype.
DR MedGen; CN301082.
DR MeSH; D007248.
//
ID Spermatogenic failure 59.
AC DI-06204
AR SPGF59.
DE An autosomal recessive male infertility disorder characterized by non-
DE obstructive azoospermia, due to sperm maturation arrest.
DR MIM; 619645; phenotype.
DR MedGen; CN305050.
DR MeSH; D007248.
//
ID Spermatogenic failure 6.
AC DI-01666
AR SPGF6.
DE An infertility disorder caused by spermatogenesis defects. The most
DE prominent feature is the malformation of the acrosome, which can be
DE totally absent in most severe cases. Additional features are an
DE abnormal nuclear shape and abnormal arrangement of the mitochondria of
DE the spermatozoon.
SY Acrosome malformation of spermatozoa.
SY Globozoospermia.
SY Round-headed spermatozoa.
DR MIM; 102530; phenotype.
DR MedGen; C0403825.
DR MeSH; D007248.
//
ID Spermatogenic failure 60.
AC DI-06205
AR SPGF60.
DE An autosomal recessive male infertility disorder characterized by non-
DE obstructive azoospermia, due to sperm maturation arrest before the
DE pachytene stage.
DR MIM; 619646; phenotype.
DR MedGen; CN305321.
DR MeSH; D007248.
//
ID Spermatogenic failure 61.
AC DI-06206
AR SPGF61.
DE An autosomal recessive male infertility disorder characterized by non-
DE obstructive azoospermia, due to complete meiotic arrest at the primary
DE spermatocyte stage.
DR MIM; 619672; phenotype.
DR MedGen; CN305322.
DR MeSH; D007248.
//
ID Spermatogenic failure 62.
AC DI-06207
AR SPGF62.
DE An autosomal recessive male infertility disorder characterized by non-
DE obstructive azoospermia, due to complete metaphase arrest at the
DE spermatocyte stage.
DR MIM; 619673; phenotype.
DR MedGen; CN305323.
DR MeSH; D007248.
//
ID Spermatogenic failure 63.
AC DI-06208
AR SPGF63.
DE An autosomal recessive male infertility disorder characterized by
DE severe oligozoospermia and reduced progressive sperm motility.
DR MIM; 619689; phenotype.
DR MeSH; D007248.
//
ID Spermatogenic failure 64.
AC DI-06306
AR SPGF64.
DE An autosomal recessive male infertility disorder characterized by
DE oligoasthenoteratozoospermia or non-obstructive azoospermia. Some
DE patients have absent sperm due to meiotic arrest at the diplotene
DE stage. Others show low sperm counts and reduced progressive motility.
DR MIM; 619696; phenotype.
DR MedGen; CN305740.
DR MeSH; D007248.
//
ID Spermatogenic failure 65.
AC DI-06307
AR SPGF65.
DE An autosomal recessive male infertility disorder characterized by
DE asthenoteratozoospermia. Progressive sperm motility is severely
DE reduced or absent due to multiple morphologic abnormalities of the
DE flagella.
DR MIM; 619712; phenotype.
DR MedGen; CN306027.
DR MeSH; D007248.
//
ID Spermatogenic failure 66.
AC DI-06369
AR SPGF66.
DE An autosomal recessive male infertility disorder characterized by
DE globozoospermia. Affected individuals have a normal sperm count, but
DE spermatozoa are round-headed and lack the acrosome.
DR MIM; 619799; phenotype.
DR MedGen; CN307060.
DR MeSH; D007248.
//
ID Spermatogenic failure 67.
AC DI-06370
AR SPGF67.
DE An autosomal recessive male infertility disorder characterized by
DE globozoospermia. Affected individuals have a normal sperm count, but
DE spermatozoa are round-headed and lack the acrosome.
DR MIM; 619803; phenotype.
DR MedGen; CN307171.
DR MeSH; D007248.
//
ID Spermatogenic failure 68.
AC DI-06371
AR SPGF68.
DE An autosomal recessive male infertility disorder characterized by
DE globozoospermia. Affected individuals have a normal sperm count, but
DE spermatozoa are round-headed and lack the acrosome.
DR MIM; 619805; phenotype.
DR MedGen; CN307172.
DR MeSH; D007248.
//
ID Spermatogenic failure 7.
AC DI-02565
AR SPGF7.
DE An infertility disorder characterized by non-motile sperm or sperm
DE motility below the normal threshold, low sperm count, increased
DE abnormally structured spermatozoa, and reduced semen volume.
SY Male infertility non-syndromic autosomal recessive.
SY MIAR.
DR MIM; 612997; phenotype.
DR MedGen; C2751811.
DR MeSH; D053627.
//
ID Spermatogenic failure 8.
AC DI-03124
AR SPGF8.
DE An infertility disorder characterized by spermatogenesis failure and
DE severe oligozoospermia.
DR MIM; 613957; phenotype.
DR MedGen; C3151406.
DR MeSH; D007248.
//
ID Spermatogenic failure 9.
AC DI-03123
AR SPGF9.
DE An infertility disorder caused by spermatogenesis defects. The most
DE prominent feature is the malformation of the acrosome, which can be
DE totally absent in most severe cases. Additional features are an
DE abnormal nuclear shape and abnormal arrangement of the mitochondria of
DE the spermatozoon.
SY Globozoospermia complete.
SY Globozoospermia total.
DR MIM; 613958; phenotype.
DR MedGen; C3151407.
DR MeSH; D007248.
//
ID Spermatogenic failure Y-linked 2.
AC DI-02062
AR SPGFY2.
DE A disorder resulting in the absence (azoospermia) or reduction
DE (oligozoospermia) of sperm in the semen, leading to male infertility.
SY Azoospermia non-obstructive Y-linked.
SY Non-obstructive azoospermia and infertility.
SY Oligospermia non-obstructive Y-linked.
SY Oligozoospermia non-obstructive Y-linked.
SY Spermatogenic arrest Y-linked.
SY Spermatogenic failure nonobstructive Y-linked.
DR MIM; 415000; phenotype.
DR MedGen; C1839071.
DR MeSH; D009845.
DR MeSH; D053713.
//
ID Spermatogenic failure, 15.
AC DI-04721
AR SPGF15.
DE An infertility disorder caused by spermatogenesis defects and
DE characterized by non-obstructive azoospermia due to complete meiotic
DE maturation arrest. SPGF15 inheritance is autosomal recessive.
DR MIM; 616950; phenotype.
DR MedGen; CN236703.
DR MeSH; D007248.
//
ID Spermatogenic failure, X-linked, 2.
AC DI-04467
AR SPGFX2.
DE An infertility disorder caused by spermatogenesis defects. It is
DE characterized by mixed testicular atrophy and azoospermia with meiotic
DE arrest.
SY Male infertility from defect in meiosis.
DR MIM; 309120; phenotype.
DR MedGen; C1839841.
DR MeSH; D007248.
//
ID Spermatogenic failure, X-linked, 3.
AC DI-06023
AR SPGFX3.
DE An infertility disorder characterized by asthenoteratozoospermia.
DE Spermatozoa exhibit multiple morphologic abnormalities, including
DE absent, short, coiled, and irregular-caliber flagella.
DR MIM; 301059; phenotype.
DR MedGen; CN295284.
DR MeSH; D007248.
//
ID Spherocytosis 1.
AC DI-02321
AR SPH1.
DE A form of spherocytosis, a hematologic disorder leading to chronic
DE hemolytic anemia and characterized by numerous abnormally shaped
DE erythrocytes which are generally spheroidal. SPH1 is characterized by
DE severe hemolytic anemia. Inheritance can be autosomal dominant or
DE autosomal recessive. Patients with homozygous mutations have a more
DE severe disorder.
SY Hereditary spherocytosis type 1.
SY HS1.
DR MIM; 182900; phenotype.
DR MedGen; C2674218.
DR MedGen; CN068423.
DR MeSH; D013103.
KW KW-0360:Hereditary hemolytic anemia.
//
ID Spherocytosis 2.
AC DI-02322
AR SPH2.
DE An autosomal dominant form of hereditary spherocytosis, a group of
DE hematologic disorders characterized by numerous abnormally shaped
DE erythrocytes which are generally spheroidal. Clinical manifestations
DE include chronic hemolytic anemia, jaundice, and splenomegaly, with
DE variable severity.
SY Hereditary spherocytosis type 2.
SY HS2.
SY Spherocytosis, hereditary, 2.
SY Spherocytosis, type 2, autosomal dominant.
DR MIM; 616649; phenotype.
DR MedGen; CN069761.
DR MeSH; D013103.
//
ID Spherocytosis 3.
AC DI-02323
AR SPH3.
DE Spherocytosis is a hematologic disorder leading to chronic hemolytic
DE anemia and characterized by numerous abnormally shaped erythrocytes
DE which are generally spheroidal. SPH3 is characterized by severe
DE hemolytic anemia. Inheritance is autosomal recessive.
SY Hereditary spherocytosis type 3.
SY HS3.
DR MIM; 270970; phenotype.
DR MedGen; C2678338.
//
ID Spherocytosis 4.
AC DI-02324
AR SPH4.
DE Spherocytosis is a hematologic disorder leading to chronic hemolytic
DE anemia and characterized by numerous abnormally shaped erythrocytes
DE which are generally spheroidal.
SY Hereditary spherocytosis type 4.
SY HS4.
DR MIM; 612653; phenotype.
DR MedGen; C2675212.
//
ID Spherocytosis 5.
AC DI-02325
AR SPH5.
DE Spherocytosis is a hematologic disorder leading to chronic hemolytic
DE anemia and characterized by numerous abnormally shaped erythrocytes
DE which are generally spheroidal. Absence of band 4.2 associated with
DE spur or target erythrocytes has also been reported.
SY Hereditary spherocytosis type 5.
SY HS5.
DR MIM; 612690; phenotype.
DR MedGen; C2675192.
//
ID Spheroid body myopathy.
AC DI-02326
AR SBM.
DE Autosomal dominant form of myofibrillar myopathy (MFM), characterized
DE by slowly progressing proximal muscle weakness and dysarthric nasal
DE speech. There is no evidence of cardiomyopathy. Muscle biopsy shows
DE spheroid bodies within the type I muscle fibers.
DR MIM; 182920; phenotype.
DR MedGen; C1866785.
//
ID Spinal and bulbar muscular atrophy X-linked 1.
AC DI-01053
AR SMAX1.
DE An X-linked recessive form of spinal muscular atrophy. Spinal muscular
DE atrophy refers to a group of neuromuscular disorders characterized by
DE degeneration of the anterior horn cells of the spinal cord, leading to
DE symmetrical muscle weakness and atrophy. SMAX1 occurs only in men. Age
DE at onset is usually in the third to fifth decade of life, but earlier
DE involvement has been reported. It is characterized by slowly
DE progressive limb and bulbar muscle weakness with fasciculations,
DE muscle atrophy, and gynecomastia. The disorder is clinically similar
DE to classic forms of autosomal spinal muscular atrophy.
SY Bulbospinal muscular atrophy X-linked.
SY Bulbospinal neuronopathy X-linked recessive.
SY KD.
SY Kennedy disease.
SY Kennedy spinal and bulbar muscular atrophy.
SY SBMA.
SY Spinal and bulbar muscular atrophy.
SY XBSN.
DR MIM; 313200; phenotype.
DR MedGen; C1839259.
DR MedGen; C2931395.
DR MeSH; D014897.
KW KW-0523:Neurodegeneration.
//
ID Spinal muscular atrophy 1.
AC DI-01055
AR SMA1.
DE A form of spinal muscular atrophy, a group of neuromuscular disorder
DE characterized by degeneration of the anterior horn cells of the spinal
DE cord, leading to symmetrical muscle weakness and atrophy. Autosomal
DE recessive forms are classified according to the age of onset, the
DE maximum muscular activity achieved, and survivorship. The severity of
DE the disease is mainly determined by the copy number of SMN2, a copy
DE gene which predominantly produces exon 7-skipped transcripts and only
DE low amount of full-length transcripts that encode for a protein
DE identical to SMN1. Only about 4% of SMA patients bear one SMN1 copy
DE with an intragenic mutation. SMA1 is a severe form, with onset before
DE 6 months of age. SMA1 patients never achieve the ability to sit.
SY Infantile muscular atrophy.
SY Proximal hereditary motor neuropathy type I.
SY SMA I.
SY SMA infantile acute form.
SY Spinal muscular atrophy type I.
SY Werdnig-Hoffman disease.
DR MIM; 253300; phenotype.
DR MedGen; C0043116.
DR MeSH; D014897.
KW KW-0523:Neurodegeneration.
//
ID Spinal muscular atrophy 2.
AC DI-01056
AR SMA2.
DE An autosomal recessive form of spinal muscular atrophy, a
DE neuromuscular disorder characterized by degeneration of the anterior
DE horn cells of the spinal cord, leading to symmetrical muscle weakness
DE and atrophy. It has intermediate severity, with onset between 6 and 18
DE months. Patients do not reach the motor milestone of standing, and
DE survive into adulthood.
SY SMA II.
SY Spinal muscular atrophy infantile chronic form.
SY Spinal muscular atrophy intermediate type.
SY Spinal muscular atrophy type II.
DR MIM; 253550; phenotype.
DR MedGen; C0393538.
DR MedGen; C2931358.
DR MeSH; D014897.
KW KW-0523:Neurodegeneration.
//
ID Spinal muscular atrophy 3.
AC DI-01057
AR SMA3.
DE An autosomal recessive form of spinal muscular atrophy, a
DE neuromuscular disorder characterized by degeneration of the anterior
DE horn cells of the spinal cord, leading to symmetrical muscle weakness
DE and atrophy. Onset is after 18 months. Patients develop ability to
DE stand and walk and survive into adulthood.
SY Kugelberg-Welander syndrome.
SY KWS.
SY SMA III.
SY Spinal muscular atrophy mild childhood and adolescent form.
SY Spinal muscular atrophy type III.
SY Wohlfart-Kugelberg-Welander disease.
DR MIM; 253400; phenotype.
DR MedGen; C0152109.
DR MeSH; D014897.
KW KW-0523:Neurodegeneration.
//
ID Spinal muscular atrophy 4.
AC DI-01058
AR SMA4.
DE An autosomal recessive form of spinal muscular atrophy, a
DE neuromuscular disorder characterized by degeneration of the anterior
DE horn cells of the spinal cord, leading to symmetrical muscle weakness
DE and atrophy. Onset is in adulthood, disease progression is slow, and
DE patients can stand and walk.
SY SMA IV.
SY Spinal muscular atrophy adult form.
SY Spinal muscular atrophy proximal adult autosomal recessive.
SY Spinal muscular atrophy type IV.
DR MIM; 271150; phenotype.
DR MedGen; C1838230.
DR MeSH; D009134.
KW KW-0523:Neurodegeneration.
//
ID Spinal muscular atrophy with congenital bone fractures 1.
AC DI-04681
AR SMABF1.
DE An autosomal recessive neuromuscular disorder characterized by
DE prenatal-onset spinal muscular atrophy, multiple congenital
DE contractures consistent with arthrogryposis multiplex congenita,
DE respiratory distress, and congenital bone fractures.
SY Spinal muscular atrophy, type I, with congenital bone fractures.
DR MIM; 616866; phenotype.
DR MedGen; CN235620.
DR MeSH; D009134.
KW KW-0523:Neurodegeneration.
//
ID Spinal muscular atrophy with congenital bone fractures 2.
AC DI-04682
AR SMABF2.
DE An autosomal recessive neuromuscular disorder characterized by
DE prenatal-onset spinal muscular atrophy, multiple congenital
DE contractures consistent with arthrogryposis multiplex congenita,
DE respiratory distress, and congenital bone fractures.
DR MIM; 616867; phenotype.
DR MedGen; CN235621.
DR MeSH; D009134.
KW KW-0523:Neurodegeneration.
//
ID Spinal muscular atrophy with progressive myoclonic epilepsy.
AC DI-03504
AR SMAPME.
DE An autosomal recessive neuromuscular disorder characterized by
DE childhood onset of motor deficits and progressive myoclonic seizures,
DE after normal developmental milestones. Proximal muscle weakness and
DE generalized muscular atrophy are due to degeneration of spinal motor
DE neurons. Myoclonic epilepsy is generally resistant to conventional
DE therapy. The disease course is progressive and leads to respiratory
DE muscle involvement and severe handicap or early death from respiratory
DE insufficiency.
SY Hereditary myoclonus with progressive distal muscular atrophy.
DR MIM; 159950; phenotype.
DR MedGen; C1834569.
DR MeSH; D014897.
DR MeSH; D020191.
KW KW-0523:Neurodegeneration.
KW KW-0887:Epilepsy.
//
ID Spinal muscular atrophy X-linked 2.
AC DI-01059
AR SMAX2.
DE A lethal infantile form of spinal muscular atrophy, a neuromuscular
DE disorder characterized by degeneration of the anterior horn cells of
DE the spinal cord, leading to symmetrical muscle weakness and atrophy.
DE Clinical features include hypotonia, areflexia, and multiple
DE congenital contractures.
SY AMC distal X-linked.
SY AMCX1.
SY Arthrogryposis multiplex congenita distal X-linked.
SY Arthrogryposis X-linked type I.
SY Spinal muscular atrophy infantile X-linked.
SY Spinal muscular atrophy X-linked lethal infantile.
SY XLSMA.
DR MIM; 301830; phenotype.
DR MedGen; C1844934.
DR MeSH; D001176.
DR MeSH; D014897.
KW KW-0523:Neurodegeneration.
//
ID Spinal muscular atrophy, infantile, James type.
AC DI-05926
AR SMAJI.
DE An autosomal dominant form of spinal muscular atrophy, a group of
DE neuromuscular disorders characterized by degeneration of the anterior
DE horn cells of the spinal cord, leading to symmetrical muscle weakness
DE and atrophy. SMAJI is a severe disease characterized by hypotonia
DE manifesting in the first weeks or months of life, delayed motor
DE development, motor regression, and muscle weakness and atrophy
DE primarily affecting distal muscles. Additional variable features
DE include feeding difficulties, poor overall growth, foot deformities,
DE kyphosis, hyperlordosis, scoliosis, vocal cord dysfunction, and
DE respiratory insufficiency.
DR MIM; 619042; phenotype.
DR MedGen; CN293370.
DR MeSH; D009134.
KW KW-0523:Neurodegeneration.
//
ID Spinal muscular atrophy, Jokela type.
AC DI-04345
AR SMAJ.
DE An autosomal dominant, slowly progressive, lower motor neuron disease.
DE SMAJ is characterized by adult-onset of muscle cramps and
DE fasciculations affecting the proximal and distal muscles of the upper
DE and lower limbs. The disorder results in weakness and mild muscle
DE atrophy later in life.
DR MIM; 615048; phenotype.
DR MedGen; C3554398.
DR MedGen; CN165244.
DR MeSH; D009134.
KW KW-0523:Neurodegeneration.
//
ID Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant.
AC DI-03433
AR SMALED1.
DE A form of spinal muscular atrophy, a neuromuscular disorder
DE characterized by degeneration of the anterior horn cells of the spinal
DE cord, leading to symmetrical muscle weakness and atrophy. SMALED1 is
DE characterized by muscle weakness predominantly affecting the proximal
DE lower extremities.
SY Autosomal dominant childhood proximal spinal muscular atrophy.
SY Autosomal dominant juvenile proximal spinal muscular atrophy.
SY Autosomal dominant Kugelberg-Welander syndrome.
SY SMA-LED.
DR MIM; 158600; phenotype.
DR MedGen; C1834690.
DR MeSH; D009134.
KW KW-0523:Neurodegeneration.
//
ID Spinal muscular atrophy, lower extremity-predominant 2A, childhood onset, autosomal dominant.
AC DI-03814
AR SMALED2A.
DE An autosomal dominant form of spinal muscular atrophy characterized by
DE early-childhood onset of muscle weakness and atrophy predominantly
DE affecting the proximal and distal muscles of the lower extremity,
DE although some patients may show upper extremity involvement. The
DE disorder results in delayed walking, waddling gait, difficulty
DE walking, and loss of distal reflexes. Some patients may have foot
DE deformities or hyperlordosis, and some show mild upper motor signs,
DE such as spasticity. Sensation, bulbar function, and cognitive function
DE are preserved. The disorder shows very slow progression throughout
DE life.
DR MIM; 615290; phenotype.
DR MedGen; C3809049.
DR MeSH; D009134.
KW KW-0523:Neurodegeneration.
//
ID Spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant.
AC DI-05467
AR SMALED2B.
DE An autosomal dominant neuromuscular disorder characterized by
DE decreased fetal movements, fractures in utero, severe congenital joint
DE contractures, arthrogryposis multiplex congenita, severe hypotonia,
DE muscle atrophy, and respiratory insufficiency and failure due to
DE muscle weakness. Some patients may have dysmorphic facial features
DE and/or abnormalities on brain imaging. Death in early childhood may
DE occur.
SY Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant.
DR MIM; 618291; phenotype.
DR MedGen; CN258164.
DR MeSH; D001176.
DR MeSH; D009134.
KW KW-0523:Neurodegeneration.
//
ID Spinal muscular atrophy, proximal, adult, autosomal dominant.
AC DI-01054
AR SMAPAD.
DE A form of spinal muscular atrophy, a neuromuscular disorder
DE characterized by degeneration of the anterior horn cells of the spinal
DE cord, leading to symmetrical muscle weakness and atrophy. SMAPAD is
DE characterized by proximal muscle weakness that begins in the lower
DE limbs and then progresses to upper limbs, onset in late adulthood
DE (after third decade) and a benign course. Most of the patients remain
DE ambulatory 10 to 40 years after clinical onset.
SY Finkel late-adult type SMA.
DR MIM; 182980; phenotype.
DR MedGen; C1854058.
DR MedGen; C1866777.
DR MeSH; D009134.
KW KW-0523:Neurodegeneration.
//
ID Spinocerebellar ataxia 1.
AC DI-01066
AR SCA1.
DE Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to cerebellum degeneration with variable
DE involvement of the brainstem and spinal cord. SCA1 belongs to the
DE autosomal dominant cerebellar ataxias type I (ADCA I) which are
DE characterized by cerebellar ataxia in combination with additional
DE clinical features like optic atrophy, ophthalmoplegia, bulbar and
DE extrapyramidal signs, peripheral neuropathy and dementia. SCA1 is
DE caused by expansion of a CAG repeat in the coding region of ATXN1.
DE Longer expansions result in earlier onset and more severe clinical
DE manifestations of the disease.
SY Cerebelloparenchymal disorder I.
SY CPD1.
SY Menzel type OPCA.
SY Olivopontocerebellar atrophy I.
SY Olivopontocerebellar atrophy IV.
SY OPCA1.
SY OPCA4.
SY OPCA I.
SY OPCA IV.
SY Schut-Haymaker type OPCA.
DR MIM; 164400; phenotype.
DR MedGen; C0752120.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 10.
AC DI-01073
AR SCA10.
DE Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCA10 is an autosomal
DE dominant cerebellar ataxia (ADCA).
DR MIM; 603516; phenotype.
DR MedGen; C1963674.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 11.
AC DI-01074
AR SCA11.
DE Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCA11 is an autosomal
DE dominant cerebellar ataxia (ADCA). It is a relatively benign, late-
DE onset, slowly progressive neurologic disorder.
DR MIM; 604432; phenotype.
DR MedGen; C1858351.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 12.
AC DI-01075
AR SCA12.
DE Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCA12 is an autosomal
DE dominant cerebellar ataxia (ADCA).
DR MIM; 604326; phenotype.
DR MedGen; C1858501.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 13.
AC DI-01076
AR SCA13.
DE Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCA13 is an autosomal
DE dominant cerebellar ataxia (ADCA) characterized by slow progression
DE and variable age at onset, ranging from childhood to late adulthood.
DE Intellectual disability can be present in some patients.
DR MIM; 605259; phenotype.
DR MedGen; C1854488.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 14.
AC DI-01077
AR SCA14.
DE Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCA14 is an autosomal
DE dominant cerebellar ataxia (ADCA).
DR MIM; 605361; phenotype.
DR MedGen; C1854369.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 15.
AC DI-01078
AR SCA15.
DE Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCA15 is an autosomal
DE dominant cerebellar ataxia (ADCA). It is very slow progressing form
DE with a wide range of onset, ranging from childhood to adult. Most
DE patients remain ambulatory.
SY SCA16.
SY Spinocerebellar ataxia type 16.
DR MIM; 606658; phenotype.
DR MedGen; C1847725.
DR MedGen; C2676005.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 17.
AC DI-01079
AR SCA17.
DE Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCA17 is an autosomal
DE dominant cerebellar ataxia (ADCA) characterized by widespread cerebral
DE and cerebellar atrophy, dementia and extrapyramidal signs. The
DE molecular defect in SCA17 is the expansion of a CAG repeat in the
DE coding region of TBP. Longer expansions result in earlier onset and
DE more severe clinical manifestations of the disease.
SY HDL4.
SY Huntington disease-like 4.
DR MIM; 607136; phenotype.
DR MedGen; C1846707.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 19.
AC DI-03932
AR SCA19.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCA19 is a relatively
DE mild, cerebellar ataxic syndrome with cognitive impairment, pyramidal
DE tract involvement, tremor and peripheral neuropathy, and mild atrophy
DE of the cerebellar hemispheres and vermis.
SY SCA22.
SY Spinocerebellar ataxia 22.
DR MIM; 607346; phenotype.
DR MedGen; C1846367.
DR MedGen; C2746067.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 2.
AC DI-01067
AR SCA2.
DE Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to cerebellum degeneration with variable
DE involvement of the brainstem and spinal cord. SCA2 belongs to the
DE autosomal dominant cerebellar ataxias type I (ADCA I) which are
DE characterized by cerebellar ataxia in combination with additional
DE clinical features like optic atrophy, ophthalmoplegia, bulbar and
DE extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is
DE characterized by hyporeflexia, myoclonus and action tremor and
DE dopamine-responsive parkinsonism. In some patients, SCA2 presents as
DE pure familial parkinsonism without cerebellar signs.
SY Cerebellar degeneration with slow eye movements.
SY Olivopontocerebellar atrophy Holguin type.
SY Olivopontocerebellar atrophy II.
SY OPCA2.
SY OPCA II.
SY SDSEM.
SY Spinocerebellar ataxia Cuban type.
SY Spinocerebellar atrophy II.
SY Spinocerebellar degeneration with slow eye movements.
SY Wadia-Swami syndrome.
DR MIM; 183090; phenotype.
DR MedGen; C0752121.
DR MedGen; C2931904.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 20.
AC DI-03078
AR SCA20.
DE Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCA20 is an autosomal
DE dominant, adult-onset form characterized by dysarthria due to
DE spasmodic dysphonia followed by slowly progressive ataxia.
SY Chromosome 11q12 duplication syndrome 260-KB.
SY Spinocerebellar ataxia with dysphonia.
SY Spinocerebellar ataxia with spasmodic cough.
DR MIM; 608687; phenotype.
DR MedGen; C1837541.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 21.
AC DI-04256
AR SCA21.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCA21 is characterized
DE by onset in the first decades of life of slowly progressive relatively
DE mild cerebellar ataxia associated with slight extrapyramidal features
DE predominant in older patients and cognitive impairment predominant in
DE younger patients.
DR MIM; 607454; phenotype.
DR MedGen; C1843891.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
KW KW-0991:Intellectual disability.
//
ID Spinocerebellar ataxia 23.
AC DI-02949
AR SCA23.
DE Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCA23 is an adult-onset
DE autosomal dominant form characterized by slowly progressive gait and
DE limb ataxia, with variable additional features, including peripheral
DE neuropathy and dysarthria.
DR MIM; 610245; phenotype.
DR MedGen; C1853250.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 26.
AC DI-03933
AR SCA26.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord.
DR MIM; 609306; phenotype.
DR MedGen; C1836395.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 27.
AC DI-01080
AR SCA27.
DE Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCA27 is an autosomal
DE dominant cerebellar ataxia (ADCA). It is a slowly progressive
DE disorder, with onset in late-childhood to early adulthood,
DE characterized by ataxia with tremor, orofacial dyskinesia, psychiatric
DE symptoms and cognitive deficits.
SY Cerebellar ataxia autosomal dominant FGF14-related.
DR MIM; 609307; phenotype.
DR MedGen; C1836383.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 28.
AC DI-02675
AR SCA28.
DE Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCA28 is an autosomal
DE dominant cerebellar ataxia (ADCA) with a slow progressive course and
DE no evidence of sensory involvement or cognitive impairment.
DR MIM; 610246; phenotype.
DR MedGen; C1853249.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 29.
AC DI-03660
AR SCA29.
DE An autosomal dominant, congenital spinocerebellar ataxia characterized
DE by early motor delay, hypotonia and mild cognitive delay. Affected
DE individuals develop a very slowly progressive or non-progressive gait
DE and limb ataxia associated with cerebellar atrophy on brain imaging.
DE Additional variable features include nystagmus, dysarthria, and
DE tremor.
SY ACV.
SY Aplasia of cerebellar vermis.
SY Autosomal dominant congenital nonprogressive cerebellar ataxia.
SY Cerebellar vermis aplasia.
SY CNPCA.
DR MIM; 117360; phenotype.
DR MedGen; C1861732.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 3.
AC DI-01068
AR SCA3.
DE Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to cerebellum degeneration with variable
DE involvement of the brainstem and spinal cord. SCA3 belongs to the
DE autosomal dominant cerebellar ataxias type I (ADCA I) which are
DE characterized by cerebellar ataxia in combination with additional
DE clinical features like optic atrophy, ophthalmoplegia, bulbar and
DE extrapyramidal signs, peripheral neuropathy and dementia. The
DE molecular defect in SCA3 is the a CAG repeat expansion in ATX3 coding
DE region. Longer expansions result in earlier onset and more severe
DE clinical manifestations of the disease.
SY Azorean neurologic disease.
SY Machado-Joseph disease.
SY MJD.
SY Nigrospinodentatal degeneration.
SY Spinocerebellar atrophy.
DR MIM; 109150; phenotype.
DR MedGen; C0024408.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 31.
AC DI-01060
AR SCA31.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCA31 belongs to the
DE autosomal dominant cerebellar ataxias type III (ADCA III) which are
DE characterized by pure cerebellar ataxia without additional signs.
SY Pure spinocerebellar ataxia Japanese type.
SY SCA4 pure Japanese type.
SY Spinocerebellar ataxia 16q22-linked.
DR MIM; 117210; phenotype.
DR MedGen; C1861736.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 34.
AC DI-04188
AR SCA34.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCA34 is an autosomal
DE dominant form characterized by the association of progressive
DE cerebellar ataxia with erythrokeratodermia variabilis.
SY Erythrokeratodermia with ataxia.
DR MIM; 133190; phenotype.
DR MedGen; C1851481.
DR MeSH; D020754.
DR MeSH; D056266.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 35.
AC DI-03054
AR SCA35.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCA35 patients commonly
DE show upper limb involvement and torticollis. There is no cognitive
DE impairment.
DR MIM; 613908; phenotype.
DR MedGen; CN077707.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 36.
AC DI-03245
AR SCA36.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCA36 is characterized
DE by complicated clinical features, with ataxia as the first symptom,
DE followed by characteristic late-onset involvement of the motor neuron
DE system. Ataxic symptoms, such as gait and truncal instability, ataxic
DE dysarthria, and uncoordinated limbs, start in late forties to fifties.
DE Characteristically, affected individuals exhibit tongue atrophy with
DE fasciculation. Progression of motor neuron involvement is typically
DE limited to the tongue and main proximal skeletal muscles in both upper
DE and lower extremities.
DR MIM; 614153; phenotype.
DR MedGen; C3472711.
DR MedGen; CN078798.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 37.
AC DI-05050
AR SCA37.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCA37 is an autosomal
DE dominant form characterized by adult-onset of slowly progressive gait
DE instability, frequent falls, and dysarthria associated with cerebellar
DE atrophy on brain imaging.
DR MIM; 615945; phenotype.
DR MedGen; C3889636.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 38.
AC DI-04196
AR SCA38.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCA38 is an autosomal
DE dominant form characterized by adult-onset of slowly progressive gait
DE ataxia accompanied by nystagmus. Brain MRI shows cerebellar atrophy.
DR MIM; 615957; phenotype.
DR MedGen; CN218416.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 40.
AC DI-04242
AR SCA40.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCA40 is an autosomal
DE dominant, slowly progressive form. Brain MRI shows pontocerebellar
DE atrophy along with a global reduction in brain volume.
DR MIM; 616053; phenotype.
DR MedGen; CN219009.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 41.
AC DI-04448
AR SCA41.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord.
DR MIM; 616410; phenotype.
DR MedGen; CN231150.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 42.
AC DI-04644
AR SCA42.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCA42 is a slowly
DE progressive, autosomal dominant form with variable severity.
DR MIM; 616795; phenotype.
DR MedGen; CN235171.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits.
AC DI-05309
AR SCA42ND.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCA42ND is an early-
DE onset, severe form associated with motor and cognitive impairment,
DE cerebellar atrophy as well as variable features such as facial
DE dysmorphisms, digital anomalies, microcephaly and epilepsy. SCA42ND
DE inheritance is autosomal dominant.
DR MIM; 618087; phenotype.
DR MedGen; CN252698.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 43.
AC DI-04796
AR SCA43.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCA43 is a slowly
DE progressive, autosomal dominant form.
DR MIM; 617018; phenotype.
DR MedGen; CN238088.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 44.
AC DI-05091
AR SCA44.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCA44 is a slowly
DE progressive, autosomal dominant form.
DR MIM; 617691; phenotype.
DR MedGen; CN492437.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 45.
AC DI-05143
AR SCA45.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCA45 is a slowly
DE progressive, autosomal dominant form with onset in adulthood.
DR MIM; 617769; phenotype.
DR MedGen; CN623017.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 46.
AC DI-05144
AR SCA46.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCA46 is a slowly
DE progressive, autosomal dominant form with onset in adulthood.
SY Spinocerebellar ataxia, 46, autosomal dominant, with sensory axonal neuropathy.
DR MIM; 617770; phenotype.
DR MedGen; CN623018.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 47.
AC DI-05237
AR SCA47.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCA47 is an autosomal
DE dominant disease with a highly variable phenotype and incomplete
DE penetrance. Clinical features include developmental disability,
DE ataxia, and seizures.
DR MIM; 617931; phenotype.
DR MedGen; CN244564.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 48.
AC DI-05368
AR SCA48.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCA48 is an autosomal
DE dominant neurodegenerative disease characterized by onset in mid-
DE adulthood of progressive cognitive decline and gait ataxia, and
DE vermian and hemispheric cerebellar atrophy.
DR MIM; 618093; phenotype.
DR MedGen; CN257775.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 5.
AC DI-01069
AR SCA5.
DE Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCA5 is an autosomal
DE dominant cerebellar ataxia (ADCA). It is a slowly progressive disorder
DE with variable age at onset, ranging between 10 and 50 years.
DR MIM; 600224; phenotype.
DR MedGen; C0752123.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 6.
AC DI-01070
AR SCA6.
DE Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCA6 is an autosomal
DE dominant cerebellar ataxia (ADCA), mainly caused by expansion of a CAG
DE repeat in the coding region of CACNA1A. There seems to be a
DE correlation between the repeat number and earlier onset of the
DE disorder.
DR MIM; 183086; phenotype.
DR MedGen; C0752124.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 7.
AC DI-01071
AR SCA7.
DE Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCA7 belongs to the
DE autosomal dominant cerebellar ataxias type II (ADCA II) which are
DE characterized by cerebellar ataxia with retinal degeneration and
DE pigmentary macular dystrophy.
SY Olivopontocerebellar atrophy III.
SY Olivopontocerebellar atrophy with retinal degeneration.
SY OPCA3.
SY OPCA III.
DR MIM; 164500; phenotype.
DR MedGen; C0752125.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia 8.
AC DI-01072
AR SCA8.
DE Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCA8 is an autosomal
DE dominant cerebellar ataxia (ADCA). It is caused by expansion of a CAG
DE repeat in ATXN8, which is translated into a nearly pure polyglutamine
DE protein which forms 1C2-positive inclusions in Purkinje cells and
DE other neurons.
DR MIM; 608768; phenotype.
DR MedGen; C1837454.
DR MeSH; D020754.
KW KW-0950:Spinocerebellar ataxia.
//
ID Spinocerebellar ataxia with epilepsy.
AC DI-04684
AR SCAE.
DE An autosomal recessive syndrome characterized by headaches and/or
DE seizures manifesting in childhood or adolescence, cerebellar and
DE sensory ataxia, dysarthria, and myoclonus manifesting in early
DE adulthood. Neuropathological findings include spinocerebellar
DE degeneration associated with cortical neuronal degeneration in
DE advanced cases.
SY Epilepsy, progressive myoclonic 5.
SY EPM5.
SY Progressive myoclonic epilepsy with sensory ataxic neuropathy.
DR MIM; 607459; phenotype.
DR MedGen; C3151194.
DR MeSH; D013132.
DR MeSH; D020191.
KW KW-0523:Neurodegeneration.
KW KW-0622:Neuropathy.
KW KW-0887:Epilepsy.
//
ID Spinocerebellar ataxia, autosomal recessive 4.
AC DI-05339
AR SCAR4.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders due to degeneration of the
DE cerebellum with variable involvement of the brainstem and spinal cord.
DE SCAR4 patients manifest ataxic gait with spasticity and hyperreflexia
DE of the lower limbs resulting in difficulty walking. The age at onset
DE is highly variable, ranging from early childhood to adulthood.
SY SCA24.
SY SCASI.
SY Spinocerebellar ataxia 24.
SY Spinocerebellar ataxia with saccadic intrusions.
DR MIM; 607317; phenotype.
DR MedGen; C1846492.
DR MeSH; D002524.
DR MeSH; D013132.
KW KW-0523:Neurodegeneration.
//
ID Spinocerebellar ataxia, autosomal recessive, 10.
AC DI-02959
AR SCAR10.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCAR10 is characterized
DE by onset in the teenage or young adult years of gait and limb ataxia,
DE dysarthria, and nystagmus associated with marked cerebellar atrophy on
DE brain imaging.
DR MIM; 613728; phenotype.
DR MedGen; C3150998.
DR MeSH; D002524.
DR MeSH; D013132.
KW KW-0523:Neurodegeneration.
//
ID Spinocerebellar ataxia, autosomal recessive, 11.
AC DI-03244
AR SCAR11.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCAR11 is associated
DE with psychomotor retardation.
DR MIM; 614229; phenotype.
DR MedGen; C3280226.
DR MeSH; D002524.
DR MeSH; D013132.
KW KW-0523:Neurodegeneration.
//
ID Spinocerebellar ataxia, autosomal recessive, 12.
AC DI-04025
AR SCAR12.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCAR12 is additionally
DE characterized by onset of generalized seizures in infancy, and delayed
DE psychomotor development with intellectual disability. Some patients
DE may also show spasticity.
DR MIM; 614322; phenotype.
DR MedGen; C3280452.
DR MeSH; D002524.
DR MeSH; D013132.
KW KW-0523:Neurodegeneration.
//
ID Spinocerebellar ataxia, autosomal recessive, 13.
AC DI-03542
AR SCAR13.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCAR13 is characterized
DE by delayed psychomotor development beginning in infancy. Affected
DE individuals show mild to profound intellectual disability with poor or
DE absent speech as well as gait and stance ataxia and hyperreflexia.
DR MIM; 614831; phenotype.
DR MedGen; C3553816.
DR MedGen; CN143954.
DR MeSH; D002524.
DR MeSH; D013132.
KW KW-0523:Neurodegeneration.
//
ID Spinocerebellar ataxia, autosomal recessive, 14.
AC DI-03864
AR SCAR14.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCAR14 is characterized
DE by delayed psychomotor development, severe early onset gait ataxia,
DE eye movement abnormalities, cerebellar atrophy on brain imaging, and
DE intellectual disability.
SY SPARCA1.
SY Spectrin-associated autosomal recessive cerebellar ataxia 1.
DR MIM; 615386; phenotype.
DR MedGen; C3809327.
DR MedGen; CN179771.
DR MeSH; D002524.
DR MeSH; D013132.
KW KW-0523:Neurodegeneration.
//
ID Spinocerebellar ataxia, autosomal recessive, 15.
AC DI-04054
AR SCAR15.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCAR15 patients manifest
DE cerebellar ataxia in early childhood and delayed motor development
DE with delayed walking. Additional features include dysarthria, upper
DE limb involvement, abnormal eye movements, and hyporeflexia.
SY Salih ataxia.
DR MIM; 615705; phenotype.
DR MedGen; C3810326.
DR MedGen; CN185374.
DR MeSH; D002524.
DR MeSH; D013132.
KW KW-0523:Neurodegeneration.
//
ID Spinocerebellar ataxia, autosomal recessive, 16.
AC DI-04081
AR SCAR16.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCAR16 is characterized
DE by truncal and limb ataxia resulting in gait instability.
DE Additionally, patients may show dysarthria, nystagmus, spasticity of
DE the lower limbs, and mild peripheral sensory neuropathy.
DR MIM; 615768; phenotype.
DR MedGen; CN186321.
DR MeSH; D002524.
DR MeSH; D013132.
KW KW-0523:Neurodegeneration.
//
ID Spinocerebellar ataxia, autosomal recessive, 17.
AC DI-04290
AR SCAR17.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCAR17 features include
DE non-progressive congenital cerebellar ataxia, mildly delayed walking
DE with an unsteady gait and frequent falls, dysarthria, dysmetria,
DE hypotonia in the extremities, truncal ataxia, increased reflexes in
DE the lower extremities, and intellectual disability.
DR MIM; 616127; phenotype.
DR MedGen; CN225909.
DR MeSH; D002524.
DR MeSH; D013132.
KW KW-0523:Neurodegeneration.
//
ID Spinocerebellar ataxia, autosomal recessive, 18.
AC DI-04317
AR SCAR18.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCAR18 features include
DE progressive cerebellar atrophy, delayed psychomotor development,
DE severely impaired gait, ocular movement abnormalities, and
DE intellectual disability.
DR MIM; 616204; phenotype.
DR MedGen; CN225382.
DR MeSH; D002524.
DR MeSH; D013132.
KW KW-0523:Neurodegeneration.
//
ID Spinocerebellar ataxia, autosomal recessive, 2.
AC DI-04657
AR SCAR2.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders due to degeneration of the
DE cerebellum with variable involvement of the brainstem and spinal cord.
DE SCAR2 is characterized by onset of impaired motor development and
DE ataxic gait in early childhood. Additional features often include loss
DE of fine motor skills, dysarthria, nystagmus, cerebellar signs, and
DE delayed cognitive development with intellectual disability.
SY Cerebellar hypoplasia, non-progressive Norman type.
SY Cerebelloparenchymal disorder III.
SY CPD3.
SY CPD III.
DR MIM; 213200; phenotype.
DR MedGen; C1859298.
DR MeSH; D002524.
DR MeSH; D013132.
KW KW-0523:Neurodegeneration.
KW KW-0991:Intellectual disability.
//
ID Spinocerebellar ataxia, autosomal recessive, 20.
AC DI-04379
AR SCAR20.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders due to degeneration of the
DE cerebellum with variable involvement of the brainstem and spinal cord.
DE SCAR20 is characterized by cerebellar atrophy, ataxia, coarsened
DE facial features, severely delayed psychomotor development with poor or
DE absent speech, and intellectual disability.
DR MIM; 616354; phenotype.
DR MedGen; CN230320.
DR MeSH; D002524.
DR MeSH; D013132.
KW KW-0523:Neurodegeneration.
KW KW-0991:Intellectual disability.
//
ID Spinocerebellar ataxia, autosomal recessive, 21.
AC DI-04603
AR SCAR21.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders due to degeneration of the
DE cerebellum with variable involvement of the brainstem and spinal cord.
DE SCAR21 is characterized by cerebellar atrophy and ataxia with onset in
DE early childhood. Patients also manifest recurrent episodes of liver
DE failure, hepatic fibrosis and a peripheral neuropathy.
SY CALFAN.
SY Cholestasis, low GGT, acute liver failure, and neurodegeneration syndrome.
SY Spinocerebellar ataxia, autosomal recessive 21, with hepatopathy.
DR MIM; 616719; phenotype.
DR MedGen; CN234681.
DR MeSH; D002524.
DR MeSH; D013132.
KW KW-0523:Neurodegeneration.
KW KW-0991:Intellectual disability.
//
ID Spinocerebellar ataxia, autosomal recessive, 22.
AC DI-04713
AR SCAR22.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders due to degeneration of the
DE cerebellum with variable involvement of the brainstem and spinal cord.
DE SCAR22 patients manifest variable severity of intellectual disability
DE associated with adult-onset cerebellar ataxia.
DR MIM; 616948; phenotype.
DR MedGen; CN236706.
DR MeSH; D002524.
DR MeSH; D013132.
KW KW-0523:Neurodegeneration.
KW KW-0991:Intellectual disability.
//
ID Spinocerebellar ataxia, autosomal recessive, 23.
AC DI-04714
AR SCAR23.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders due to degeneration of the
DE cerebellum with variable involvement of the brainstem and spinal cord.
DE SCAR23 patients manifest epilepsy, intellectual disability, and gait
DE ataxia.
DR MIM; 616949; phenotype.
DR MedGen; CN236707.
DR MeSH; D002524.
DR MeSH; D013132.
KW KW-0523:Neurodegeneration.
KW KW-0991:Intellectual disability.
//
ID Spinocerebellar ataxia, autosomal recessive, 24.
AC DI-04847
AR SCAR24.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders due to degeneration of the
DE cerebellum with variable involvement of the brainstem and spinal cord.
DE SCAR24 patients manifest gait instability and speech difficulties with
DE onset in childhood. Clinical features include gait and limb ataxia,
DE dysarthria, nystagmus, cataracts, and cerebellar atrophy on brain
DE imaging.
DR MIM; 617133; phenotype.
DR MedGen; CN238684.
DR MeSH; D002524.
DR MeSH; D013132.
KW KW-0523:Neurodegeneration.
KW KW-0991:Intellectual disability.
//
ID Spinocerebellar ataxia, autosomal recessive, 25.
AC DI-05044
AR SCAR25.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders due to degeneration of the
DE cerebellum with variable involvement of the brainstem and spinal cord.
DE SCAR25 patients manifest delayed psychomotor development with delayed
DE walking, truncal ataxia, dysmetria, and nystagmus, Cerebellar
DE hypoplasia is seen on brain imaging.
DR MIM; 617584; phenotype.
DR MedGen; CN349871.
DR MeSH; D002524.
DR MeSH; D013132.
KW KW-0523:Neurodegeneration.
//
ID Spinocerebellar ataxia, autosomal recessive, 26.
AC DI-05068
AR SCAR26.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders due to degeneration of the
DE cerebellum with variable involvement of the brainstem and spinal cord.
DE SCAR26 is a progressive disease characterized by gait and limb ataxia,
DE loss of independent ambulation, oculomotor apraxia, and peripheral
DE neuropathy with distal muscle weakness and areflexia.
DR MIM; 617633; phenotype.
DR MedGen; CN417133.
DR MeSH; D002524.
DR MeSH; D013132.
KW KW-0523:Neurodegeneration.
//
ID Spinocerebellar ataxia, autosomal recessive, 27.
AC DI-05515
AR SCAR27.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders due to degeneration of the
DE cerebellum with variable involvement of the brainstem and spinal cord.
DE SCAR27 is a progressive disease characterized by gait difficulties,
DE eye movement abnormalities, dysarthria, and difficulty writing. Some
DE patients may lose independent ambulation. Additional features include
DE spasticity of the lower limbs and cognitive impairment.
DR MIM; 618369; phenotype.
DR MedGen; CN258266.
DR MeSH; D002524.
DR MeSH; D013132.
KW KW-0523:Neurodegeneration.
//
ID Spinocerebellar ataxia, autosomal recessive, 28.
AC DI-05783
AR SCAR28.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders due to degeneration of the
DE cerebellum with variable involvement of the brainstem and spinal cord.
DE SCAR28 patients manifest mild motor developmental delay, gait ataxia,
DE and dysarthria. Some patients show mildly impaired intellectual
DE development. Disease onset is in early childhood.
DR MIM; 618800; phenotype.
DR MedGen; CN263364.
DR MeSH; D002524.
DR MeSH; D013132.
KW KW-0523:Neurodegeneration.
//
ID Spinocerebellar ataxia, autosomal recessive, 29.
AC DI-06157
AR SCAR29.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders due to degeneration of the
DE cerebellum with variable involvement of the brainstem and spinal cord.
DE SCAR29 is a progressive disease characterized by delayed motor
DE development in early infancy followed by difficulty walking due to an
DE ataxic gait or inability to walk, hypotonia, and variably impaired
DE intellectual development.
SY Barakat-Van Ham-Kaya syndrome.
SY BAVAHAKA.
SY NEDHCA.
SY Neurodevelopmental disorder with hypotonia and cerebellar ataxia.
DR MIM; 619389; phenotype.
DR MedGen; CN299631.
DR MeSH; D002524.
DR MeSH; D013132.
KW KW-0523:Neurodegeneration.
//
ID Spinocerebellar ataxia, autosomal recessive, 30.
AC DI-06158
AR SCAR30.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders due to degeneration of the
DE cerebellum with variable involvement of the brainstem and spinal cord.
DE SCAR30 is a progressive disease characterized by childhood-onset
DE global developmental delay with variably impaired intellectual
DE development, motor dysfunction, and cerebellar ataxia. Affected
DE individuals may also have psychiatric abnormalities.
DR MIM; 619405; phenotype.
DR MedGen; CN299630.
DR MeSH; D002524.
DR MeSH; D013132.
KW KW-0523:Neurodegeneration.
//
ID Spinocerebellar ataxia, autosomal recessive, 31.
AC DI-06159
AR SCAR31.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders due to degeneration of the
DE cerebellum with variable involvement of the brainstem and spinal cord.
DE SCAR30 is characterized by global developmental delay, hypotonia,
DE variably impaired intellectual and language development, ataxic gait,
DE tremor, and dysarthria. Most affected individuals have optic atrophy.
DE Additional features may include retinitis pigmentosa, sensorineural
DE deafness, dysmorphic facial features, and possibly endocrine
DE dysfunction.
DR MIM; 619422; phenotype.
DR MedGen; CN299706.
DR MeSH; D002524.
DR MeSH; D013132.
KW KW-0523:Neurodegeneration.
//
ID Spinocerebellar ataxia, autosomal recessive, 7.
AC DI-03994
AR SCAR7.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCAR7 patients show
DE difficulty walking and writing, dysarthria, limb ataxia, and
DE cerebellar atrophy.
DR MIM; 609270; phenotype.
DR MedGen; C1836474.
DR MeSH; D002524.
DR MeSH; D013132.
KW KW-0523:Neurodegeneration.
//
ID Spinocerebellar ataxia, autosomal recessive, 8.
AC DI-01062
AR SCAR8.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCAR8 is an autosomal
DE recessive form.
SY ARCA1.
SY Ataxia recessive of Beauce.
SY Autosomal recessive cerebellar ataxia type 1.
DR MIM; 610743; phenotype.
DR MedGen; C1853116.
DR MeSH; D002524.
DR MeSH; D013132.
KW KW-0523:Neurodegeneration.
//
ID Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1.
AC DI-01064
AR SCAN1.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCAN1 is an autosomal
DE recessive cerebellar ataxia (ARCA) associated with peripheral axonal
DE motor and sensory neuropathy, distal muscular atrophy, pes cavus and
DE steppage gait as seen in Charcot-Marie-Tooth neuropathy. All affected
DE individuals have normal intelligence.
DR MIM; 607250; phenotype.
DR MedGen; C1846574.
DR MeSH; D002524.
DR MeSH; D013132.
KW KW-0523:Neurodegeneration.
//
ID Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2.
AC DI-01061
AR SCAN2.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCAN2 is an autosomal
DE recessive form associated with peripheral neuropathy and elevated
DE serum alpha-fetoprotein, immunoglobulins and, less commonly, creatine
DE kinase levels. Some SCAN2 patients manifest oculomotor apraxia.
SY AOA2.
SY Ataxia-ocular apraxia 2.
SY Ataxia-oculomotor apraxia 2.
SY SCAR1.
SY Spinocerebellar ataxia, autosomal recessive, 1.
DR MIM; 606002; phenotype.
DR MedGen; C1853761.
DR MeSH; D002524.
DR MeSH; D013132.
KW KW-0523:Neurodegeneration.
//
ID Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3.
AC DI-05534
AR SCAN3.
DE A form of spinocerebellar ataxia, a clinically and genetically
DE heterogeneous group of cerebellar disorders due to degeneration of the
DE cerebellum with variable involvement of the brainstem and spinal cord.
DE SCAN3 is an autosomal recessive disorder characterized by onset in the
DE first decade of slowly progressive distal muscle weakness and atrophy
DE and distal sensory impairment due to an axonal peripheral neuropathy.
DE Affected individuals have gait disturbances and sometimes manual
DE dexterity difficulties, as well as cerebellar ataxia associated with
DE cerebellar atrophy on brain imaging.
DR MIM; 618387; phenotype.
DR MedGen; CN258287.
DR MeSH; D002524.
DR MeSH; D013132.
KW KW-0523:Neurodegeneration.
KW KW-0622:Neuropathy.
//
ID Spinocerebellar ataxia, X-linked 1.
AC DI-03640
AR SCAX1.
DE Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE group of cerebellar disorders. Patients show progressive
DE incoordination of gait and often poor coordination of hands, speech
DE and eye movements, due to degeneration of the cerebellum with variable
DE involvement of the brainstem and spinal cord. SCAX1 is characterized
DE by hypotonia at birth, delayed motor development, gait ataxia,
DE difficulty standing, dysarthria, and slow eye movements. Brain MRI
DE shows cerebellar ataxia.
SY Olivopontocerebellar atrophy X-linked.
SY OPCAX.
SY OPCA X-linked.
DR MIM; 302500; phenotype.
DR MedGen; C0796205.
DR MeSH; D009849.
KW KW-0523:Neurodegeneration.
//
ID Spitz nevus.
AC DI-04452
AR SPITZN.
DE A benign melanocytic neoplasm composed of epithelioid or spindle cell
DE melanocytes. Spitz nevi usually present as solitary skin tumors but
DE can occur in multiple patterns, having agminated, dermatomal, and
DE disseminated forms.
SY Nevus, spindle cell and epithelioid.
SY Nevus, Spitz.
SY Spindle cell and epithelioid nevus.
DR MIM; 137550; phenotype.
DR MedGen; C0206739.
DR MeSH; D018332.
//
ID Split-foot malformation with mesoaxial polydactyly.
AC DI-04698
AR SFMMP.
DE An autosomal recessive disorder characterized by a split-foot defect,
DE mesoaxial polydactyly, nail abnormalities of the hands, and
DE sensorineural hearing loss.
DR MIM; 616890; phenotype.
DR MedGen; CN235903.
DR MeSH; D005532.
DR MeSH; D017689.
//
ID Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive.
AC DI-03391
AR SHFM1D.
DE A disease characterized by the association of split-hand/foot
DE malformation with deafness. Split-hand/foot malformation is a limb
DE malformation involving the central rays of the autopod and presenting
DE with syndactyly, median clefts of the hands and feet, and aplasia
DE and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some
DE patients have been found to have intellectual disability, ectodermal
DE and craniofacial findings, and orofacial clefting.
SY Congenital deafness and split hands and feet.
DR MIM; 220600; phenotype.
DR MedGen; C1857344.
DR MeSH; D003638.
DR MeSH; D017880.
KW KW-0209:Deafness.
//
ID Split-hand/foot malformation 3.
AC DI-02327
AR SHFM3.
DE A limb malformation involving the central rays of the autopod and
DE presenting with syndactyly, median clefts of the hands and feet, and
DE aplasia and/or hypoplasia of the phalanges, metacarpals, and
DE metatarsals. Some patients have been found to have intellectual
DE disability, ectodermal and craniofacial findings, and orofacial
DE clefting.
SY Chromosome 10q24 duplication syndrome.
SY Limb deficiencies, distal, with micrognathia.
SY SHSF3.
DR MIM; 246560; phenotype.
DR MedGen; C1838652..
DR MedGen; C1855500.
DR MeSH; D017880.
//
ID Split-hand/foot malformation 4.
AC DI-02328
AR SHFM4.
DE A limb malformation involving the central rays of the autopod and
DE presenting with syndactyly, median clefts of the hands and feet, and
DE aplasia and/or hypoplasia of the phalanges, metacarpals, and
DE metatarsals. Some patients have been found to have intellectual
DE disability, ectodermal and craniofacial findings, and orofacial
DE clefting.
DR MIM; 605289; phenotype.
DR MedGen; C1854442.
DR MeSH; D017880.
//
ID Split-hand/foot malformation 6.
AC DI-02495
AR SHFM6.
DE A limb malformation involving the central rays of the autopod and
DE presenting with syndactyly, median clefts of the hands and feet, and
DE aplasia and/or hypoplasia of the phalanges, metacarpals, and
DE metatarsals. Some patients have been found to have intellectual
DE disability, ectodermal and craniofacial findings, and orofacial
DE clefting.
SY Ectrodactyly autosomal recessive.
DR MIM; 225300; phenotype.
DR MedGen; C2749665.
DR MeSH; D017880.
//
ID Split-hand/foot malformation with long bone deficiency 3.
AC DI-03954
AR SHFLD3.
DE A disease characterized by the association of split-hand/foot
DE malformation with long bone deficiency involving the tibia and fibula.
DE Split-hand/foot malformation is a limb malformation involving the
DE central rays of the autopod. Phenotypic expression is extremely
DE variable between and within families, and even between limbs of a
DE single patient, ranging from syndactyly and oligodactyly to the most
DE severe monodactyly with only a single phalanx. Limb features include
DE median clefts of the hands and feet, and aplasia and/or hypoplasia of
DE the phalanges, metacarpals, and metatarsals.
SY Chromosome 17p13.3, telomeric, duplication syndrome.
DR MIM; 612576; phenotype.
DR MedGen; C2675492.
DR MeSH; D017880.
//
ID Spondylo-megaepiphyseal-metaphyseal dysplasia.
AC DI-02858
AR SMMD.
DE A skeletal dysplasia characterized by disproportionate short stature
DE with a short and stiff neck and trunk, relatively long limbs that may
DE show flexion contractures of the distal joints, delayed and impaired
DE ossification of the vertebral bodies, the presence of large epiphyseal
DE ossification centers and wide growth plates in the long tubular bones,
DE and numerous pseudoepiphyses of the short tubular bones in hands and
DE feet.
DR MIM; 613330; phenotype.
DR MedGen; C2750066.
DR MeSH; D001848.
KW KW-0242:Dwarfism.
//
ID Spondyloarthropathy 1.
AC DI-02696
AR SPDA1.
DE A chronic rheumatic disease with multifactorial inheritance. It
DE includes a spectrum of related disorders comprising ankylosing
DE spondylitis, a subset of psoriatic arthritis, reactive arthritis (e.g.
DE Reiter syndrome), arthritis associated with inflammatory bowel disease
DE and undifferentiated spondyloarthropathy. These disorders may occur
DE simultaneously or sequentially in the same patient, probably
DE representing various phenotypic expressions of the same disease.
DE Ankylosing spondylitis is the form of rheumatoid arthritis affecting
DE the spine and is considered the prototype of seronegative
DE spondyloarthropathies. It produces pain and stiffness as a result of
DE inflammation of the sacroiliac, intervertebral, and costovertebral
DE joints.
SY Ankylosing spondylarthritis.
SY Ankylosing spondylitis.
SY Bechterew Syndrome.
SY Marie-Strumpell spondylitis.
SY Psoriatic arthritis.
SY Reactive arthritis.
SY Reiter syndrome.
SY Rheumatoid spondylitis.
SY Spondylarthritis ankylopoietica.
SY Spondylitis ankylosans.
DR MIM; 106300; phenotype.
DR MedGen; C0949691.
DR MedGen; C1862852.
DR MeSH; D012058.
DR MeSH; D013167.
DR MeSH; D015535.
DR MeSH; D016918.
//
ID Spondylocarpotarsal synostosis syndrome.
AC DI-02329
AR SCT.
DE Disorder characterized by short stature and vertebral, carpal and
DE tarsal fusions.
SY Congenital scoliosis with unilateral unsegmented bar.
SY Congenital synspondylism.
SY SCT.
SY Spondylocarpotarsal syndrome.
SY Vertebral fusion with carpal coalition.
DR MIM; 272460; phenotype.
DR MedGen; C1848934.
//
ID Spondylocostal dysostosis 1, autosomal recessive.
AC DI-01081
AR SCDO1.
DE A condition of variable severity associated with vertebral and rib
DE segmentation defects. The main skeletal malformations include fusion
DE of vertebrae, hemivertebrae, fusion of certain ribs, and other rib
DE malformations. Deformity of the chest and spine (severe scoliosis,
DE kyphoscoliosis and lordosis) is a natural consequence of the
DE malformation and leads to a dwarf-like appearance. As the thorax is
DE small, infants frequently have respiratory insufficiency and repeated
DE respiratory infections resulting in life-threatening complications in
DE the first year of life.
SY Costovertebral dysplasia.
SY Jarcho-Levin syndrome.
SY Spondylothoracic dysostosis.
SY Spondylothoracic dysplasia.
DR MIM; 277300; phenotype.
DR MedGen; C0265343.
DR MeSH; D004413.
KW KW-0242:Dwarfism.
//
ID Spondylocostal dysostosis 2, autosomal recessive.
AC DI-01082
AR SCDO2.
DE A condition of variable severity associated with vertebral and rib
DE segmentation defects. The main skeletal malformations include fusion
DE of vertebrae, hemivertebrae, fusion of certain ribs, and other rib
DE malformations. Deformity of the chest and spine (severe scoliosis,
DE kyphoscoliosis and lordosis) is a natural consequence of the
DE malformation and leads to a dwarf-like appearance. As the thorax is
DE small, infants frequently have respiratory insufficiency and repeated
DE respiratory infections resulting in life-threatening complications in
DE the first year of life.
DR MIM; 608681; phenotype.
DR MedGen; C1837549.
DR MeSH; D004413.
KW KW-0242:Dwarfism.
//
ID Spondylocostal dysostosis 3, autosomal recessive.
AC DI-01083
AR SCDO3.
DE A condition of variable severity associated with vertebral and rib
DE segmentation defects. The main skeletal malformations include fusion
DE of vertebrae, hemivertebrae, fusion of certain ribs, and other rib
DE malformations. Deformity of the chest and spine (severe scoliosis,
DE kyphoscoliosis and lordosis) is a natural consequence of the
DE malformation and leads to a dwarf-like appearance. As the thorax is
DE small, infants frequently have respiratory insufficiency and repeated
DE respiratory infections resulting in life-threatening complications in
DE the first year of life.
DR MIM; 609813; phenotype.
DR MedGen; C1853296.
DR MeSH; D004413.
KW KW-0242:Dwarfism.
//
ID Spondylocostal dysostosis 4, autosomal recessive.
AC DI-02536
AR SCDO4.
DE A rare condition of variable severity characterized by vertebral and
DE costal anomalies. The main feature include dwarfism, vertebral fusion,
DE hemivertebrae, posterior rib fusion, reduced rib number, and other rib
DE malformations.
DR MIM; 613686; phenotype.
DR MedGen; C3150942.
DR MeSH; D004413.
KW KW-0242:Dwarfism.
//
ID Spondylocostal dysostosis 5.
AC DI-04021
AR SCDO5.
DE A rare condition of variable severity characterized by vertebral and
DE costal anomalies. The main feature include dwarfism, vertebral fusion,
DE hemivertebrae, posterior rib fusion, reduced rib number, and other rib
DE malformations. SCDO5 inheritance can be autosomal dominant or
DE recessive.
SY Costovertebral segmentation anomalies.
SY Scoliosis, congenital, with or without rib anomalies.
SY Spondylocostal dysplasia.
SY Spondylothoracic dysostosis.
SY TACS.
DR MIM; 122600; phenotype.
DR MedGen; C4083048.
DR MeSH; D004413.
KW KW-0242:Dwarfism.
//
ID Spondylocostal dysostosis 6, autosomal recessive.
AC DI-04516
AR SCDO6.
DE A form of spondylocostal dysostosis, a condition of variable severity
DE associated with vertebral and rib segmentation defects. The main
DE skeletal malformations include fusion of vertebrae, hemivertebrae,
DE fusion of certain ribs, and other rib malformations. Deformity of the
DE chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a
DE natural consequence of the malformation and leads to a dwarf-like
DE appearance. As the thorax is small, infants frequently have
DE respiratory insufficiency and repeated respiratory infections
DE resulting in life-threatening complications in the first year of life.
DR MIM; 616566; phenotype.
DR MedGen; CN232941.
DR MeSH; D004413.
KW KW-0242:Dwarfism.
//
ID Spondyloenchondrodysplasia with immune dysregulation.
AC DI-03197
AR SPENCDI.
DE A disease characterized by vertebral and metaphyseal dysplasia,
DE spasticity with cerebral calcifications, and strong predisposition to
DE autoimmune diseases. The skeletal dysplasia is characterized by
DE radiolucent and irregular spondylar and metaphyseal lesions that
DE represent islands of chondroid tissue within bone.
SY Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia.
SY Roifman immunoskeletal syndrome.
SY SPENCD.
DR MIM; 607944; phenotype.
DR MedGen; C1842763.
DR MeSH; D001327.
DR MeSH; D010009.
//
ID Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures.
AC DI-03845
AR SEMDJL1.
DE A bone disease characterized by vertebral abnormalities and
DE ligamentous laxity that result in spinal misalignment and progressive
DE severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise
DE resulting in early death. Additional skeletal features include elbow
DE deformities with radial head dislocation, dislocated hips, clubfeet,
DE and tapered fingers with spatulate distal phalanges. Many affected
DE children have an oval face, flat midface, prominent eyes with blue
DE sclerae, and a long philtrum. Palatal abnormalities and congenital
DE heart disease are also observed.
SY SEMDJL-Beighton type.
SY Spondyloepimetaphyseal dysplasia with joint laxity Beighton type.
DR MIM; 271640; phenotype.
DR MedGen; C0432243.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Spondyloepimetaphyseal dysplasia with joint laxity, 2.
AC DI-03363
AR SEMDJL2.
DE A bone disease characterized by short stature, distinctive midface
DE retrusion, progressive knee malalignment (genu valgum and/or varum),
DE generalized ligamentous laxity, and mild spinal deformity.
DE Intellectual development is not impaired. Radiographic characteristics
DE include significantly retarded epiphyseal ossification that evolves
DE into epiphyseal dysplasia and precocious osteoarthritis, metaphyseal
DE irregularities and vertical striations, constricted femoral neck,
DE slender metacarpals and metatarsals, and mild thoracolumbar kyphosis
DE or scoliosis with normal or mild platyspondyly. The most distinctive
DE features for differential diagnosis of SEMDJL2 are the slender
DE metacarpals and phalanges and the progressive degeneration of carpal
DE bones; however, these 2 features are evident only in older children
DE and young adults. The soft consistency of cartilage in the airways
DE leads to laryngotracheomalacia with proneness to respiratory
DE obstruction and inspiratory stridor in infancy and childhood.
SY Lepto-SEMDJL.
SY Spondyloepimetaphyseal dysplasia with joint laxity Hall type.
SY Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic type.
SY Spondyloepimetaphyseal dysplasia with multiple dislocations Hall type.
DR MIM; 603546; phenotype.
DR MedGen; C1863732.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Spondyloepimetaphyseal dysplasia with joint laxity, 3.
AC DI-05541
AR SEMDJL3.
DE An autosomal recessive bone disease characterized by multiple joint
DE dislocations at birth, severe joint laxity, scoliosis, gracile
DE metacarpals and metatarsals, delayed bone age and poorly ossified
DE carpal and tarsal bones.
DR MIM; 618395; phenotype.
DR MedGen; CN258292.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Spondyloepimetaphyseal dysplasia, aggrecan type.
AC DI-02539
AR SEMDAG.
DE A bone disease characterized by severe short stature, macrocephaly,
DE severe midface hypoplasia, short neck, barrel chest and brachydactyly.
DE The radiological findings comprise long bones with generalized
DE irregular epiphyses with widened metaphyses, especially at the knees,
DE platyspondyly, and multiple cervical-vertebral clefts.
SY SEMD aggrecan type.
DR MIM; 612813; phenotype.
DR MedGen; C2748544.
DR MeSH; D001848.
KW KW-0242:Dwarfism.
//
ID Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type.
AC DI-02330
AR SEMDBCD.
DE An autosomal recessive bone disease characterized by disproportionate
DE early-onset dwarfism, bowing of the lower limbs, lumbar lordosis and
DE normal hands. Skeletal abnormalities include short, wide and stocky
DE long bones with severe epiphyseal and metaphyseal changes, hypoplastic
DE iliac bones and flat, ovoid vertebral bodies.
SY Matrilin-3 related SEMD.
SY SEMD, matrilin-3 type.
SY Spondyloepimetaphyseal dysplasia bowed-legs type.
SY Spondyloepimetaphyseal dysplasia matrilin-3 type.
SY Spondylo-epi-metaphyseal dysplasia matrilin 3 type.
SY Spondylometaepiphyseal dysplasia matrilin-3 type.
DR MIM; 608728; phenotype.
DR MedGen; C1837481.
DR MeSH; D001848.
KW KW-0242:Dwarfism.
//
ID Spondyloepimetaphyseal dysplasia, Di Rocco type.
AC DI-05247
AR SEMDDR.
DE A skeletal disorder characterized by short stature, joint pain, genu
DE vara and spondyloepimetaphyseal dysplasia involving the hips, knees,
DE ankles, wrists and hands. Patients also exhibit variable degrees of
DE metaphysis and spine involvement. SEMDDR transmission pattern is
DE consistent with autosomal dominant inheritance.
DR MIM; 617974; phenotype.
DR MedGen; CN244923.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type.
AC DI-04587
AR SEMDFA.
DE An autosomal recessive skeletal disorder characterized by
DE spondyloepimetaphyseal dysplasia, short stature, facial dysmorphism,
DE short fourth metatarsals, and intellectual disability.
DR MIM; 616723; phenotype.
DR MedGen; CN234661.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
//
ID Spondyloepimetaphyseal dysplasia, Genevieve type.
AC DI-04730
AR SEMDG.
DE An autosomal recessive disorder characterized by global developmental
DE delay with infantile onset, intellectual disability, skeletal
DE dysplasia, and short stature. Skeletal findings include flat vertebral
DE bodies with irregular vertebral plates, irregular and flared
DE metaphyses with vertical striations, small and irregular epiphyses,
DE premature carpal ossification and small carpal bones.
SY NANS deficiency.
SY SEMD Genevieve type.
DR MIM; 610442; phenotype.
DR MedGen; C1864872.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
//
ID Spondyloepimetaphyseal dysplasia, Isidor-Toutain type.
AC DI-05729
AR SEMDIST.
DE An autosomal dominant bone disease characterized by early postnatal
DE growth deficiency, severe short stature, genu varum, platyspondyly and
DE severe epiphyseal and metaphyseal changes in the lower limbs.
DR MIM; 618728; phenotype.
DR MedGen; CN263114.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Spondyloepimetaphyseal dysplasia, Krakow type.
AC DI-05362
AR SEMDK.
DE An autosomal recessive skeletal disorder characterized by severe
DE spondyloepimetaphyseal dysplasia, rhizomelia, mesomelia with
DE significant anterior bowing of all limbs, severe immunodeficiency, and
DE developmental delay.
SY Immunoosseous dysplasia, Krakow type.
DR MIM; 618162; phenotype.
DR MedGen; CN257750.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Spondyloepimetaphyseal dysplasia, Missouri type.
AC DI-02332
AR SEMDM.
DE A bone disease characterized by moderate to severe metaphyseal
DE changes, mild epiphyseal involvement, rhizomelic shortening of the
DE lower limbs with bowing of the femora and/or tibiae, coxa vara, genu
DE varum and pear-shaped vertebrae in childhood. Epimetaphyseal changes
DE improve with age.
SY SEMD-MO.
SY Spondyloepimetaphyseal dysplasia type 2.
SY Spondyloepimetaphyseal dysplasia type Missouri.
SY Spondylometaepiphyseal dysplasia type Missouri.
DR MIM; 602111; phenotype.
DR MedGen; C1865832.
DR MeSH; D001848.
//
ID Spondyloepimetaphyseal dysplasia, Shohat type.
AC DI-05181
AR SEMDSH.
DE An autosomal recessive skeletal dysplasia that affects cartilage
DE development. It is characterized by vertebral, epiphyseal, and
DE metaphyseal abnormalities, including scoliosis with vertebral
DE compression fractures, flattened vertebral bodies, and
DE hypomineralization of long bones. Affected individuals may exhibit a
DE small trunk, short neck, small limbs, joint laxity, bowlegs, and/or
DE abdominal distension with hepatosplenomegaly.
SY SEMD, Shohat type.
DR MIM; 602557; phenotype.
DR MedGen; C1865185.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Spondyloepimetaphyseal dysplasia, short limb-hand type.
AC DI-02538
AR SEMD-SL.
DE A bone disease characterized by short-limbed dwarfism, a narrow chest
DE with pectus excavatum, brachydactyly in the hands and feet, a
DE characteristic craniofacial appearance and premature calcifications.
DE The radiological findings are distinctive and comprise short long
DE bones throughout the skeleton with striking epiphyses that are
DE stippled, flattened and fragmented and flared, irregular metaphyses.
DE Platyspondyly in the spine with wide intervertebral spaces is observed
DE and some vertebral bodies are pear-shaped with central humps, anterior
DE protrusions and posterior scalloping.
SY SMED short limb-abnormal calcification type.
SY SMED short limb-hand type.
SY SMED-SL.
SY SMED-SL/AC.
SY SMED type II.
SY Spondylometaepiphyseal dysplasia short limb-abnormal calcification type.
SY Spondylometaepiphyseal dysplasia short limb-hand type.
DR MIM; 271665; phenotype.
DR MedGen; C1849011.
DR MeSH; D001848.
KW KW-0242:Dwarfism.
//
ID Spondyloepimetaphyseal dysplasia, sponastrime type.
AC DI-05624
AR SEMDSP.
DE An autosomal recessive bone disease characterized by spine
DE abnormalities, mid-face hypoplasia with a depressed nasal bridge, and
DE striation of the metaphyses. Additional features include
DE disproportionate short stature with exaggerated lumbar lordosis,
DE scoliosis, coxa vara, limited elbow extension, small dysplastic
DE epiphyses, childhood cataracts, short dental roots, and
DE hypogammaglobulinemia. Disease severity and clinical manifestations
DE are variable. Some patients have intellectual disability.
SY Short limb dwarfism with saddle nose, spinal alterations and metaphyseal striation.
SY Sponastrime dysplasia.
SY Spondylar and nasal alterations with striated metaphyses.
DR MIM; 271510; phenotype.
DR MedGen; C1300260.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Spondyloepimetaphyseal dysplasia, Strudwick type.
AC DI-02343
AR SEMDSTWK.
DE A bone disease characterized by disproportionate short stature from
DE birth, with a very short trunk and shortened limbs, and skeletal
DE abnormalities including lordosis, scoliosis, flattened vertebrae,
DE pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or
DE metaphyses. A distinctive radiographic feature is irregular sclerotic
DE changes, described as dappled in the metaphyses of the long bones.
SY Dappled metaphysis syndrome.
SY SEMD, Strudwick type.
SY SEMDC.
SY SMD.
SY SMED, Strudwick type.
SY SMED type 1.
SY SMED type I.
SY Spondyloepiphyseal dysplasia congenita with dappled metaphyses.
SY Spondylometaepiphyseal dysplasia congenita, Strudwick type.
SY Spondylometaphyseal dysplasia.
SY Strudwick syndrome.
DR MIM; 184250; phenotype.
DR MedGen; C0700635.
DR MeSH; D001848.
KW KW-0242:Dwarfism.
//
ID Spondyloepimetaphyseal dysplasia, X-linked.
AC DI-04786
AR SEMDX.
DE An X-linked recessive bone disease characterized by severe short-trunk
DE dwarfism, brachydactyly, metaphyseal flaring of lower extremities,
DE short and broad long bone diaphyses, moderate platyspondyly, normal
DE facies, and normal intelligence.
SY SEMD, X-linked.
DR MIM; 300106; phenotype.
DR MedGen; C1848097.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy.
AC DI-05710
AR SEMDHL.
DE An X-linked recessive developmental disorder characterized by slowly
DE progressive skeletal and neurologic abnormalities, including short
DE stature, large and deformed joints, significant motor impairment,
DE visual defects, and sometimes cognitive deficits. Affected individuals
DE typically have normal early development in the first year or so of
DE life, followed by development regression and the development of
DE symptoms. Brain imaging shows white matter abnormalities consistent
DE with hypomyelinating leukodystrophy.
DR MIM; 300232; phenotype.
DR MedGen; C1846148.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Spondyloepiphyseal dysplasia congenital type.
AC DI-02333
AR SEDC.
DE Disorder characterized by disproportionate short stature and
DE pleiotropic involvement of the skeletal and ocular systems.
DR MIM; 183900; phenotype.
DR MedGen; C0038015.
DR MedGen; C2745959.
//
ID Spondyloepiphyseal dysplasia Maroteaux type.
AC DI-02969
AR SEDM.
DE A clinically variable spondyloepiphyseal dysplasia with manifestations
DE limited to the musculoskeletal system. Clinical features include short
DE stature, brachydactyly, platyspondyly, short and stubby hands and
DE feet, epiphyseal hypoplasia of the large joints, and iliac hypoplasia.
DE Intelligence is normal.
SY Pseudo-Morquio syndrome type 2.
SY SED Maroteaux type.
DR MIM; 184095; phenotype.
DR MedGen; C3159322.
DR MeSH; D010009.
//
ID Spondyloepiphyseal dysplasia tarda.
AC DI-02335
AR SEDT.
DE X-linked recessive disorder of endochondral bone formation.
DR MIM; 313400; phenotype.
DR MedGen; C0220776.
DR MedGen; C3541456.
//
ID Spondyloepiphyseal dysplasia type Kimberley.
AC DI-02336
AR SEDK.
DE Spondyloepiphyseal dysplasias are a heterogeneous group of congenital
DE chondrodysplasias that specifically affect epiphyses and vertebrae.
DE The autosomal dominant SEDK is associated with premature degenerative
DE arthropathy.
DR MIM; 608361; phenotype.
DR MedGen; C1842149.
//
ID Spondyloepiphyseal dysplasia with congenital joint dislocations.
AC DI-01753
AR SEDCJD.
DE A bone dysplasia clinically characterized by dislocation of the knees
DE and/or hips at birth, clubfoot, elbow joint dysplasia with subluxation
DE and limited extension, short stature, and progressive kyphosis
DE developing in late childhood. The disorder is usually evident at
DE birth, with short stature and multiple joint dislocations or
DE subluxations that dominate the neonatal clinical and radiographic
DE picture. During childhood, the dislocations improve, both
DE spontaneously and with surgical treatment, and features of
DE spondyloepiphyseal dysplasia become apparent, leading to arthritis of
DE the hips and spine with intervertebral disk degeneration, rigid
DE kyphoscoliosis, and trunk shortening by late childhood.
SY HSD.
SY Humerospinal dysostosis.
SY SED Omani type.
SY Spondyloepiphyseal dysplasia Omani type.
DR MIM; 143095; phenotype.
DR MedGen; C1837657.
DR MedGen; C1840471.
DR MeSH; D010009.
//
ID Spondyloepiphyseal dysplasia, Kondo-Fu type.
AC DI-05540
AR SEDKF.
DE A disorder characterized by severely retarded growth,
DE spondyloepiphyseal dysplasia, reduced bone mineral density, and
DE markedly elevated plasma levels of various lysosomal enzymes.
DE Additional features include pectus carinatum, kyphosis, a waddling
DE gait, brachydactyly and dysmorphic facial features. SEDKF transmission
DE pattern is consistent with autosomal recessive inheritance.
SY SED with elevated blood lysosomal enzymes.
DR MIM; 618392; phenotype.
DR MedGen; CN258288.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and Leber congenital amaurosis.
AC DI-06074
AR SHILCA.
DE An autosomal recessive disorder characterized by early-onset retinal
DE degeneration, sensorineural hearing loss, short stature due to
DE spondyloepiphyseal dysplasia, and motor and intellectual delay. Brain
DE imaging shows abnormalities including delayed myelination,
DE leukoencephalopathy, and cerebellar hypoplasia.
SY Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis.
DR MIM; 619260; phenotype.
DR MedGen; CN296249.
DR MeSH; D002493.
DR MeSH; D006319.
DR MeSH; D010009.
DR MeSH; D057130.
KW KW-0209:Deafness.
KW KW-0242:Dwarfism.
KW KW-0901:Leber congenital amaurosis.
KW KW-0991:Intellectual disability.
//
ID Spondyloepiphyseal dysplasia, Stanescu type.
AC DI-04552
AR SEDSTN.
DE An autosomal dominant spondyloepiphyseal dysplasia characterized by
DE glycoproteins accumulation in chondrocytes. Clinical features include
DE progressive joint contractures, premature degenerative joint disease
DE particularly in the knee, hip and finger joints, and osseous
DE distention of the metaphyseal ends of the phalanges causing swolling
DE of interphalangeal joints of the hands. Radiological features include
DE generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening
DE with metaphyseal splaying of the long bones, and enlarged phalangeal
DE epimetaphyses of the hands.
SY SED, Stanescu type.
DR MIM; 616583; phenotype.
DR MedGen; CN233075.
DR MeSH; D010009.
//
ID Spondylometaphyseal dysplasia Kozlowski type.
AC DI-02480
AR SMDK.
DE A form of spondylometaphyseal dysplasia, a group of short stature
DE disorders distinguished by abnormalities in the vertebrae and the
DE metaphyses of the tubular bones. It is characterized by postnatal
DE dwarfism, significant scoliosis and mild metaphyseal abnormalities in
DE the pelvis. The vertebrae exhibit platyspondyly and overfaced
DE pedicles.
SY SMD Kozlowski type.
DR MIM; 184252; phenotype.
DR MedGen; C0265280.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Spondylometaphyseal dysplasia with cone-rod dystrophy.
AC DI-04061
AR SMDCRD.
DE A disorder characterized by postnatal growth deficiency resulting in
DE profound short stature, rhizomelia with bowing of the lower
DE extremities, platyspondyly with anterior vertebral protrusions,
DE progressive metaphyseal irregularity and cupping with shortened
DE tubular bones, and early-onset progressive visual impairment
DE associated with a pigmentary maculopathy and electroretinographic
DE evidence of cone-rod dysfunction.
DR MIM; 608940; phenotype.
DR MedGen; C1837073.
DR MeSH; D010009.
DR MeSH; D012174.
KW KW-0182:Cone-rod dystrophy.
KW KW-0242:Dwarfism.
//
ID Spondylometaphyseal dysplasia with corneal dystrophy.
AC DI-05885
AR SMDCD.
DE An autosomal recessive disorder characterized by postnatal growth
DE deficiency, profound limb shortening with proximal and distal segments
DE involvement, narrow chest, radiological abnormalities involving the
DE spine, pelvis and metaphyses, corneal clouding, and intellectual
DE disability.
DR MIM; 618961; phenotype.
DR MedGen; CN283284.
DR MeSH; D003317.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Spondylometaphyseal dysplasia, axial.
AC DI-05025
AR SMDAX.
DE A form of spondylometaphyseal dysplasia, a group of short stature
DE disorders distinguished by abnormalities in the vertebrae and the
DE metaphyses of the tubular bones. SMDAX is characterized by metaphyseal
DE changes of truncal-juxtatruncal bones, including the proximal femora.
DE Main clinical features are postnatal growth failure, rhizomelic short
DE stature in early childhood evolving into short trunk in late
DE childhood, and thoracic hypoplasia that may cause mild to moderate
DE respiratory problems in the neonatal period and later susceptibility
DE to airway infection. Impaired visual acuity comes to medical attention
DE in early life and function rapidly deteriorates. Retinal changes are
DE diagnosed as retinitis pigmentosa or pigmentary retinal degeneration
DE on fundoscopic examination and cone-rod dystrophy on
DE electroretinogram. The radiological hallmarks include short ribs with
DE flared, cupped anterior ends, mild spondylar dysplasia, lacy iliac
DE crests, and metaphyseal irregularities essentially confined to the
DE proximal femora.
DR MIM; 602271; phenotype.
DR MedGen; C1865695.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Spondylometaphyseal dysplasia, corner fracture type.
AC DI-05167
AR SMDCF.
DE An autosomal dominant form of spondylometaphyseal dysplasia, a group
DE of short stature disorders distinguished by abnormalities in the
DE vertebrae and the metaphyses of the tubular bones. SMDCF is
DE characterized by flake-like, triangular, or curvilinear ossification
DE centers at the edges of irregular metaphyses that simulate fractures.
DE These corner fractures involve the distal tibia, the ulnar aspect of
DE the distal radius, the proximal humerus, and the proximal femur. They
DE represent irregular ossification at the growth plates and secondary
DE ossification centers.
SY Spondylometaphyseal dysplasia, Sutcliffe type.
SY Sutcliffe type of spondylometaphyseal dysplasia.
DR MIM; 184255; phenotype.
DR MedGen; C0432221.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type.
AC DI-04374
AR SMDMDM.
DE An autosomal recessive disease characterized by pre- and postnatal
DE short stature, developmental delay, dysmorphic facial appearance,
DE narrow chest, prominent abdomen, platyspondyly, and short limbs.
SY Chondrodysplasia, Megarbane-Dagher-Melike type.
DR MIM; 613320; phenotype.
DR MedGen; C2750075.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Spondylometaphyseal dysplasia, Pagnamenta type.
AC DI-06277
AR SMDP.
DE A form of spondylometaphyseal dysplasia, a group of short stature
DE disorders distinguished by abnormalities in the vertebrae and the
DE metaphyses of the tubular bones. SMDP is an autosomal recessive form
DE characterized by short stature and mild platyspondyly with no
DE disproportion between the limbs. Mild metaphyseal changes are present.
DR MIM; 619638; phenotype.
DR MedGen; CN304775.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Spondylometaphyseal dysplasia, Sedaghatian type.
AC DI-04167
AR SMDS.
DE A form of spondylometaphyseal dysplasia, a group of short stature
DE disorders distinguished by abnormalities in the vertebrae and the
DE metaphyses of the tubular bones. SMDS is a neonatal lethal form
DE characterized by severe metaphyseal chondrodysplasia with mild limb
DE shortening, platyspondyly, cardiac conduction defects, and central
DE nervous system abnormalities.
SY Congenital lethal metaphyseal chondrodysplasia.
SY Sedaghatian chondrodysplasia.
DR MIM; 250220; phenotype.
DR MedGen; C1855229.
DR MeSH; D010009.
KW KW-0242:Dwarfism.
//
ID Spondyloocular syndrome.
AC DI-04546
AR SOS.
DE A syndrome characterized by cataract, loss of vision due to retinal
DE detachment, facial dysmorphism, facial hypotonia, normal height with
DE disproportional short trunk, osteoporosis, immobile spine with
DE thoracic kyphosis and reduced lumbal lordosis.
DR MIM; 605822; phenotype.
DR MedGen; C1853925.
DR MeSH; D002386.
DR MeSH; D010009.
DR MeSH; D015785.
DR MeSH; D019465.
//
ID Spondyloperipheral dysplasia.
AC DI-02337
AR SPD.
DE SPD patients manifest short stature, midface hypoplasia, sensorineural
DE hearing loss, spondyloepiphyseal dysplasia, platyspondyly and
DE brachydactyly.
DR MIM; 271700; phenotype.
DR MedGen; C0796173.
//
ID Spongiform encephalopathy with neuropsychiatric features.
AC DI-02210
AR SENF.
DE Autosomal dominant presenile dementia with a rapidly progressive and
DE protracted clinical course. The dementia was characterized clinically
DE by frontotemporal features, including early personality changes. Some
DE patients had memory loss, several showed aggressiveness, hyperorality
DE and verbal stereotypy, others had parkinsonian symptoms.
DR MIM; 606688; phenotype.
DR MedGen; C1847650.
//
ID Squalene synthase deficiency.
AC DI-05357
AR SQSD.
DE An autosomal recessive disorder characterized by profound
DE developmental delay, brain abnormalities, 2/3 syndactyly of the toes,
DE facial dysmorphisms, low total and LDL-cholesterol, and abnormal urine
DE organic acids.
SY Neurodevelopmental disorder with low cholesterol and abnormal urine organic acids.
DR MIM; 618156; phenotype.
DR MedGen; CN257746.
DR MeSH; D008661.
//
ID Squamous cell carcinoma of the head and neck.
AC DI-01696
AR HNSCC.
DE A non-melanoma skin cancer affecting the head and neck. The hallmark
DE of cutaneous SCC is malignant transformation of normal epidermal
DE keratinocytes.
DR MIM; 275355; phenotype.
DR MedGen; C1168401.
DR MeSH; D002294.
//
ID Stankiewicz-Isidor syndrome.
AC DI-05014
AR STISS.
DE A neurodevelopmental disorder characterized by delayed psychomotor
DE development, intellectual disability, behavioral disorders, mild
DE dysmorphism, ophthalmologic anomalies, feeding difficulties, deafness,
DE and variable congenital malformations of the cardiac and/or urogenital
DE systems.
DR MIM; 617516; phenotype.
DR MedGen; CN249119.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Stapes ankylosis with broad thumb and toes.
AC DI-02339
AR SABTS.
DE An autosomal dominant disorder characterized by hyperopia, a
DE hemicylindrical nose, broad thumbs, great toes, and other minor
DE skeletal anomalies but lacked carpal and tarsal fusion and
DE symphalangism.
SY Ankylosis of stapes, hyperopia, broad thumbs, broad first toes, and syndactyly.
SY Stapes ankylosis syndrome without symphalangism.
SY Teunissen-Cremers syndrome.
DR MIM; 184460; phenotype.
DR MedGen; C1866656.
DR MeSH; D009140.
//
ID Stargardt disease 1.
AC DI-01084
AR STGD1.
DE A common hereditary macular degeneration. It is characterized by
DE decreased central vision, atrophy of the macula and underlying retinal
DE pigment epithelium, and frequent presence of prominent flecks in the
DE posterior pole of the retina.
SY Juvenile macular degeneration.
SY Macular dystrophy with flecks type 1.
SY Stargardt's disease.
DR MIM; 248200; phenotype.
DR MedGen; C1855465.
DR MedGen; C1858080.
DR MeSH; D003317.
KW KW-0751:Stargardt disease.
//
ID Stargardt disease 3.
AC DI-01085
AR STGD3.
DE A common hereditary macular degeneration. It is characterized by
DE decreased central vision, atrophy of the macula and underlying retinal
DE pigment epithelium, and frequent presence of prominent flecks in the
DE posterior pole of the retina.
SY Macular dystrophy autosomal dominant chromosome 6-linked.
SY Macular dystrophy with flecks type 3.
SY Stargardt-like macular dystrophy.
DR MIM; 600110; phenotype.
DR MedGen; C1838644.
DR MeSH; D003317.
KW KW-0751:Stargardt disease.
//
ID Stargardt disease 4.
AC DI-01086
AR STGD4.
DE A common hereditary macular degeneration. It is characterized by
DE decreased central vision, atrophy of the macula and underlying retinal
DE pigment epithelium, and frequent presence of prominent flecks in the
DE posterior pole of the retina.
DR MIM; 603786; phenotype.
DR MedGen; C1863534.
DR MeSH; D003317.
KW KW-0751:Stargardt disease.
//
ID Steatocystoma multiplex.
AC DI-02341
AR SM.
DE Disease characterized by round or oval cystic tumors widely
DE distributed on the back, anterior trunk, arms, scrotum, and thighs.
DR MIM; 184500; phenotype.
DR MedGen; C0259771.
//
ID Steel syndrome.
AC DI-04187
AR STLS.
DE A syndrome characterized by dislocated hips and radial heads, fusion
DE of carpal bones, short stature, scoliosis, and cervical spine
DE anomalies. Facial features include prominent forehead, long oval-
DE shaped face, hypertelorism and broad nasal bridge.
SY Dislocated hips and radial heads, carpal coalition, scoliosis, and short stature.
DR MIM; 615155; phenotype.
DR MedGen; C3554594.
DR MedGen; CN168955.
DR MeSH; D004392.
DR MeSH; D006228.
DR MeSH; D006617.
DR MeSH; D012600.
KW KW-0242:Dwarfism.
//
ID Stevens-Johnson syndrome.
AC DI-02879
AR SJS.
DE A rare blistering mucocutaneous disease that share clinical and
DE histopathologic features with toxic epidermal necrolysis. Both
DE disorders are characterized by high fever, malaise, and a rapidly
DE developing blistering exanthema of macules and target-like lesions
DE accompanied by mucosal involvement. Stevens-Johnson syndrome is a
DE milder disease characterized by destruction and detachment of the skin
DE epithelium and mucous membranes involving less than 10% of the body
DE surface area. Ocular symptoms include ulcerative conjunctivitis,
DE keratitis, iritis, uveitis and sometimes blindness. It can be caused
DE by a severe adverse reaction to particular types of medication,
DE although Mycoplasma infections may induce some cases.
SY Dermatostomatitis Stevens Johnson type.
SY TEN.
SY Toxic epidermal necrolysis.
DR MIM; 608579; phenotype.
DR MedGen; C1837818.
DR MedGen; C1840548.
DR MedGen; C2608081.
DR MedGen; C3277286.
DR MeSH; D013262.
//
ID Stickler syndrome 1.
AC DI-01090
AR STL1.
DE An autosomal dominant form of Stickler syndrome, an inherited disorder
DE that associates ocular signs with more or less complete forms of
DE Pierre Robin sequence, bone disorders and sensorineural deafness.
DE Ocular disorders may include juvenile cataract, myopia, strabismus,
DE vitreoretinal or chorioretinal degeneration, retinal detachment, and
DE chronic uveitis. Pierre Robin sequence includes an opening in the roof
DE of the mouth (a cleft palate), a large tongue (macroglossia), and a
DE small lower jaw (micrognathia). Bones are affected by slight
DE platyspondylisis and large, often defective epiphyses. Juvenile joint
DE laxity is followed by early signs of arthrosis. The degree of hearing
DE loss varies among affected individuals and may become more severe over
DE time. Syndrome expressivity is variable.
SY AOM.
SY Arthro-ophthalmopathy hereditary progressive.
SY Stickler syndrome membranous vitreous type.
SY Stickler syndrome type I.
SY Stickler syndrome vitreous type 1.
DR MIM; 108300; phenotype.
DR MedGen; C0265253.
DR MedGen; CN032634.
DR MeSH; D003240.
KW KW-0209:Deafness.
KW KW-0757:Stickler syndrome.
//
ID Stickler syndrome 1 non-syndromic ocular.
AC DI-01091
AR STL1O.
DE An autosomal dominant form of Stickler syndrome characterized by the
DE ocular signs typically seen in Stickler syndrome type 1 such as
DE cataract, myopia, retinal detachment. Systemic features of premature
DE osteoarthritis, cleft palate, hearing impairment, and craniofacial
DE abnormalities are either absent or very mild.
SY Stickler syndrome atypical.
SY Stickler syndrome predominantly ocular.
SY Wagner syndrome 2.
DR MIM; 609508; phenotype.
DR MedGen; C1836080.
DR MeSH; D003240.
DR MeSH; D012163.
KW KW-0757:Stickler syndrome.
//
ID Stickler syndrome 2.
AC DI-01092
AR STL2.
DE An autosomal dominant form of Stickler syndrome, an inherited disorder
DE that associates ocular signs with more or less complete forms of
DE Pierre Robin sequence, bone disorders and sensorineural deafness.
DE Ocular disorders may include juvenile cataract, myopia, strabismus,
DE vitreoretinal or chorioretinal degeneration, retinal detachment, and
DE chronic uveitis. Pierre Robin sequence includes an opening in the roof
DE of the mouth (a cleft palate), a large tongue (macroglossia), and a
DE small lower jaw (micrognathia). Bones are affected by slight
DE platyspondylisis and large, often defective epiphyses. Juvenile joint
DE laxity is followed by early signs of arthrosis. The degree of hearing
DE loss varies among affected individuals and may become more severe over
DE time. Syndrome expressivity is variable.
SY Stickler syndrome beaded vitreous type.
SY Stickler syndrome type II.
SY Stickler syndrome vitreous type 2.
DR MIM; 604841; phenotype.
DR MedGen; C1858084.
DR MeSH; D003240.
KW KW-0209:Deafness.
KW KW-0757:Stickler syndrome.
//
ID Stickler syndrome 4.
AC DI-01089
AR STL4.
DE An autosomal recessive form of Stickler syndrome, an inherited
DE disorder that associates ocular signs with more or less complete forms
DE of Pierre Robin sequence, bone disorders and sensorineural deafness.
DE Ocular disorders may include juvenile cataract, myopia, strabismus,
DE vitreoretinal or chorioretinal degeneration, retinal detachment, and
DE chronic uveitis. Pierre Robin sequence includes an opening in the roof
DE of the mouth (a cleft palate), a large tongue (macroglossia), and a
DE small lower jaw (micrognathia). Bones are affected by slight
DE platyspondylisis and large, often defective epiphyses. Juvenile joint
DE laxity is followed by early signs of arthrosis. The degree of hearing
DE loss varies among affected individuals and may become more severe over
DE time. Syndrome expressivity is variable.
DR MIM; 614134; phenotype.
DR MedGen; C1852831.
DR MedGen; C3279941.
DR MeSH; D003240.
KW KW-0209:Deafness.
KW KW-0757:Stickler syndrome.
//
ID Stickler syndrome 5.
AC DI-03280
AR STL5.
DE An autosomal recessive form of Stickler syndrome, an inherited
DE disorder that associates ocular signs with more or less complete forms
DE of Pierre Robin sequence, bone disorders and sensorineural deafness.
DE STL5 is characterized by high myopia, vitreoretinal degeneration,
DE retinal detachment, mild to moderate sensorineural hearing loss, short
DE stature in childhood, and absence of cleft palate and Pierre Robin
DE sequence.
DR MIM; 614284; phenotype.
DR MedGen; C3280342.
DR MedGen; CN116437.
DR MeSH; D003240.
KW KW-0209:Deafness.
KW KW-0757:Stickler syndrome.
//
ID Stiff skin syndrome.
AC DI-02823
AR SSKS.
DE A syndrome characterized by hard, thick skin, usually over the entire
DE body, which limits joint mobility and causes flexion contractures.
DE Other occasional findings include lipodystrophy and muscle weakness.
DR MIM; 184900; phenotype.
DR MedGen; C1861456.
DR MeSH; D012873.
//
ID STING-associated vasculopathy, infantile-onset.
AC DI-04179
AR SAVI.
DE An autoinflammatory disease characterized by early-onset systemic
DE inflammation and cutaneous vasculopathy, resulting in severe skin
DE lesions. Violaceous, scaling lesions of fingers, toes, nose, cheeks
DE and ears progress to acral necrosis in most of the patients. Some
DE patients have severe interstitial lung disease.
DR MIM; 615934; phenotype.
DR MedGen; CN207620.
DR MeSH; D017445.
DR MeSH; D056660.
//
ID Stomatin-deficient cryohydrocytosis with neurologic defects.
AC DI-04611
AR SDCHCN.
DE A rare form of stomatocytosis characterized by episodic hemolytic
DE anemia, cold-induced red cells cation leak, erratic hyperkalemia,
DE neonatal hyperbilirubinemia, hepatosplenomegaly, cataracts, seizures,
DE intellectual disability, and movement disorder.
SY GLUT1 deficiency syndrome with pseudohyperkalemia and hemolysis.
DR MIM; 608885; phenotype.
DR MedGen; C1837206.
DR MeSH; D000745.
KW KW-0360:Hereditary hemolytic anemia.
KW KW-0887:Epilepsy.
KW KW-0898:Cataract.
KW KW-0991:Intellectual disability.
//
ID Stormorken syndrome.
AC DI-04155
AR STRMK.
DE A rare autosomal dominant disease characterized by mild bleeding
DE tendency, thrombocytopathy, thrombocytopenia, mild anemia, asplenia,
DE tubular aggregate myopathy, miosis, headache, and ichthyosis.
SY Thrombocytopathy, asplenia, and miosis.
SY York platelet syndrome.
SY YPS.
DR MIM; 185070; phenotype.
DR MedGen; C1850709.
DR MeSH; D001791.
DR MeSH; D007057.
DR MeSH; D015877.
DR MeSH; D020914.
//
ID Striatal degeneration, autosomal dominant 1.
AC DI-02813
AR ADSD1.
DE A movement disorder affecting the striatal part of the basal ganglia
DE and characterized by bradykinesia, dysarthria and muscle rigidity.
DE These symptoms resemble idiopathic Parkinson disease, but tremor is
DE not present.
DR MIM; 609161; phenotype.
DR MedGen; C1836694.
DR MeSH; D001480.
//
ID Striatal degeneration, autosomal dominant 2.
AC DI-04708
AR ADSD2.
DE An autosomal dominant disorder characterized by striatal degeneration
DE and dysfunction of basal ganglia, resulting in hyperkinesis.
DR MIM; 616922; phenotype.
DR MedGen; CN236399.
DR MeSH; D001480.
DR MeSH; D006948.
//
ID Striatonigral degeneration, childhood-onset.
AC DI-04778
AR SNDC.
DE An autosomal recessive neurological disorder characterized by sudden
DE childhood onset of developmental regression. Affected children develop
DE impaired movements with dystonia, progressively become non-ambulatory
DE and non-verbal, and exhibit striatal abnormalities on MRI.
SY Lenk-Ploski syndrome.
DR MIM; 617054; phenotype.
DR MedGen; CN237817.
DR MeSH; D020955.
KW KW-0523:Neurodegeneration.
//
ID Stromme syndrome.
AC DI-04686
AR STROMS.
DE An autosomal recessive congenital disorder characterized by intestinal
DE atresia, ocular anomalies, microcephaly, and renal and cardiac
DE abnormalities in some patients. The disease has features of a
DE ciliopathy, and lethality in early childhood is observed in severe
DE cases.
SY Apple peel syndrome with microcephaly and ocular anomalies.
SY CILD31.
SY Ciliary dyskinesia, primary, 31.
SY Jejunal atresia with microcephaly and ocular anomalies.
DR MIM; 243605; phenotype.
DR MedGen; C1855705.
DR MeSH; D002925.
DR MeSH; D005124.
DR MeSH; D007409.
DR MeSH; D008831.
KW KW-0990:Primary ciliary dyskinesia.
//
ID Structural brain anomalies with impaired intellectual development and craniosynostosis.
AC DI-05736
AR BAIDCS.
DE A disease characterized by microcephaly, agenesis of corpus callosum,
DE abnormal conformation of the ventricles and posterior fossa,
DE hypoplasia of both cerebellar hemispheres, colpocephaly, and partial
DE absence of the cerebellar vermis with fusion of the cerebellar
DE hemispheres. Intellectual development is moderately to severely
DE impaired. Bicoronal synostosis, scoliosis, and tethered cord may be
DE present.
DR MIM; 618736; phenotype.
DR MedGen; CN263148.
DR MeSH; D003398.
DR MeSH; D008607.
DR MeSH; D009421.
KW KW-0989:Craniosynostosis.
KW KW-0991:Intellectual disability.
//
ID Structural heart defects and renal anomalies syndrome.
AC DI-05001
AR SHDRA.
DE An autosomal recessive syndrome characterized by central nervous
DE system, cardiac, renal, and digit abnormalities. Clinical features
DE include ventricular and atrial septal defects, truncus arteriosus,
DE tetralogy of Fallot, partial anomalous pulmonary venous return, renal
DE cysts, renal failure, and generalized edema. Some patients show
DE partial agenesis of corpus callosum.
DR MIM; 617478; phenotype.
DR MedGen; CN243983.
DR MeSH; D000015.
//
ID Sturge-Weber syndrome.
AC DI-03787
AR SWS.
DE A syndrome characterized by an intracranial vascular anomaly,
DE leptomeningeal angiomatosis, most often involving the occipital and
DE posterior parietal lobes. The most common features are facial
DE cutaneous vascular malformations (port-wine stains), seizures, and
DE glaucoma. Stasis results in ischemia underlying the leptomeningeal
DE angiomatosis, leading to calcification and laminar cortical necrosis.
DE The clinical course is highly variable and some children experience
DE intractable seizures, intellectual disability, and recurrent stroke-
DE like episodes.
DR MIM; 185300; phenotype.
DR MedGen; C0038505.
DR MeSH; D013341.
//
ID Stuttering, familial persistent 1.
AC DI-04675
AR STUT1.
DE A familial form of stuttering, a disturbance in the normal fluency and
DE time patterning of speech, characterized by frequent repetitions or
DE prolongations of sounds or syllables, and by interruptions of speech
DE known as blocks. STUT1 inheritance is autosomal dominant.
SY Stammering.
DR MIM; 184450; phenotype.
DR MedGen; C0038131.
DR MedGen; C3489627.
DR MeSH; D013342.
//
ID Stuve-Wiedemann syndrome.
AC DI-02344
AR STWS.
DE A form of Stuve-Wiedemann syndrome, an autosomal recessive disease
DE characterized by bowing of tubular bones and other skeletal and
DE craniofacial abnormalities, respiratory distress, feeding
DE difficulties, and hyperthermic episodes. Most patients do not survive
DE past infancy.
SY Schwartz-Jampel syndrome, neonatal.
SY Schwartz-Jampel syndrome type 2.
SY SJS2.
SY Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.
SY SWS.
DR MIM; 601559; phenotype.
DR MedGen; C0796176.
DR MeSH; D010009.
DR MeSH; D054969.
//
ID Stuve-Wiedemann syndrome 2.
AC DI-06347
AR STWS2.
DE A form of Stuve-Wiedemann syndrome, an autosomal recessive disease
DE characterized by bowing of tubular bones and other skeletal and
DE craniofacial abnormalities, respiratory distress, feeding
DE difficulties, and hyperthermic episodes. Most patients do not survive
DE past infancy. STWS2 patients manifest skeletal dysplasia and neonatal
DE lung dysfunction with additional features such as congenital
DE thrombocytopenia, eczematoid dermatitis, renal abnormalities, and
DE defective acute-phase response.
DR MIM; 619751; phenotype.
DR MedGen; CN306477.
DR MeSH; D010009.
DR MeSH; D054969.
//
ID Subcortical band heterotopia.
AC DI-01094
AR SBH.
DE SBH is a mild brain malformation of the lissencephaly spectrum. It is
DE characterized by bilateral and symmetric plates or bands of gray
DE matter found in the central white matter between the cortex and
DE cerebral ventricles, cerebral convolutions usually appearing normal.
SY Double cortex.
SY SCLH.
SY Subcortical laminar heterotopia.
DR MIM; 607432; phenotype.
DR MedGen; C1848201.
DR MeSH; D054221.
KW KW-0451:Lissencephaly.
//
ID Subcortical band heterotopia X-linked.
AC DI-01095
AR SBHX.
DE SBHX is a mild brain malformation of the lissencephaly spectrum. It is
DE characterized by bilateral and symmetric plates or bands of gray
DE matter found in the central white matter between the cortex and
DE cerebral ventricles, cerebral convolutions usually appearing normal.
SY Double cortex.
SY SCLH.
SY Subcortical laminar heterotopia.
DR MIM; 300067; phenotype.
DR MedGen; C1848070.
DR MedGen; C1848200.
DR MeSH; D054221.
KW KW-0451:Lissencephaly.
//
ID Succinic semialdehyde dehydrogenase deficiency.
AC DI-02345
AR SSADHD.
DE A rare inborn error of 4-aminobutyric acid (GABA) metabolism, which
DE leads to accumulation of 4-hydroxybutyric acid in physiologic fluids
DE of patients. The disease is clinically characterized by developmental
DE delay, hypotonia, intellectual disability, ataxia, seizures,
DE hyperkinetic behavior, aggression, and sleep disturbances.
SY 4-hydroxybutyric aciduria.
SY GABA metabolic defect.
SY Gamma-hydroxybutyric aciduria.
SY SSADH deficiency.
SY Succinate semialdehyde dehydrogenase deficiency.
DR MIM; 271980; phenotype.
DR MedGen; C0268631.
DR MeSH; D000592.
//
ID Succinyl-CoA:3-oxoacid CoA transferase deficiency.
AC DI-01863
AR SCOTD.
DE A disorder of ketone body metabolism, characterized by episodic
DE ketoacidosis. Patients are usually asymptomatic between episodes.
SY Ketoacidosis due to SCOT deficiency.
SY SCOT deficiency.
SY Succinyl-CoA:3-ketoacid CoA-transferase deficiency.
SY Succinyl-CoA:3-ketoacid-CoA transferase deficiency.
SY Succinyl-CoA:acetoacetate transferase deficiency.
SY Succinyl-CoA-3-ketoacid-CoA transferase deficiency.
DR MIM; 245050; phenotype.
DR MedGen; C0342792.
DR MeSH; D007662.
//
ID Sudden cardiac death.
AC DI-03218
AR SCD.
DE Unexpected rapid death due to cardiovascular collapse in a short time
DE period, generally within one hour of initial symptoms. It is usually
DE caused by the worsening of existing heart diseases. The sudden onset
DE of symptoms, such as chest pain and cardiac arrhythmias, particularly
DE ventricular tachycardia, can lead to the loss of consciousness and
DE cardiac arrest followed by biological death.
DR MIM; 115080; phenotype.
DR MedGen; C0085298.
DR MedGen; C0264886.
DR MedGen; C1861884.
DR MeSH; D016757.
//
ID Sudden cardiac failure, alcohol-induced.
AC DI-04870
AR SCFAI.
DE An autosomal recessive disease characterized by sudden death due to
DE unexpected cardiac arrest following ingestion of small amounts of
DE alcohol.
DR MIM; 617223; phenotype.
DR MedGen; CN239118.
DR MeSH; D016757.
//
ID Sudden cardiac failure, infantile.
AC DI-04869
AR SCFI.
DE A disease characterized by sudden death within the first 2 years of
DE life due to unexpected cardiac arrest. Some patients manifest
DE hypertrophic cardiomyopathy, lipid accumulation in myocardium,
DE degeneration of mitochondrial cristae, metabolic acidosis, and
DE elevated plasma lactate levels. SCFI transmission pattern is
DE consistent with autosomal recessive inheritance.
DR MIM; 617222; phenotype.
DR MedGen; CN239117.
DR MeSH; D016757.
//
ID Sudden infant death syndrome.
AC DI-01096
AR SIDS.
DE SIDS is the sudden death of an infant younger than 1 year that remains
DE unexplained after a thorough case investigation, including performance
DE of a complete autopsy, examination of the death scene, and review of
DE clinical history. Pathophysiologic mechanisms for SIDS may include
DE respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory
DE instability, and inborn errors of metabolism, but definitive
DE pathogenic mechanisms precipitating an infant sudden death remain
DE elusive.
DR MIM; 272120; phenotype.
DR MedGen; C0038644.
DR MeSH; D013398.
//
ID Sudden infant death with dysgenesis of the testes syndrome.
AC DI-02346
AR SIDDT.
DE Autosomal recessive disorder. Affected infants appear normal at birth,
DE develop signs of visceroautonomic dysfunction early in life, and die
DE before 12 months of age of abrupt cardiorespiratory arrest. Features
DE included bradycardia, hypothermia, severe gastroesophageal reflux,
DE laryngospasm, bronchospasm, and abnormal cardiorespiratory patterns
DE during sleep. Genotypic males with SIDDT had fetal testicular
DE dysgenesis and ambiguous genitalia, with findings such as
DE intraabdominal testes, dysplastic testes, deficient fetal testosterone
DE production, fusion and rugation of the gonadal sac, and partial
DE development of the penile shaft. Female sexual development was normal.
DE Affected infants had an unusual staccato cry, similar to the cry of a
DE goat.
DR MIM; 608800; phenotype.
DR MedGen; C1837371.
//
ID Suleiman-El-Hattab syndrome.
AC DI-05876
AR SULEHS.
DE An autosomal recessive syndrome characterized by global developmental
DE delay with poor expressive language, poor fine motor skills and
DE hypotonia, microcephaly, feeding difficulties with failure to thrive,
DE recurrent respiratory infections, cardiovascular malformations,
DE cryptorchidism, happy demeanor, and facial dysmorphism. Distinctive
DE facial features are excessive forehead hair, arched and thick eyebrows
DE with synophrys, epicanthus, hypertelorism, thick eyelids with
DE periorbital fullness, broad nasal bridge, long and smooth philtrum,
DE thin upper lip, and low set prominent ears.
DR MIM; 618950; phenotype.
DR MedGen; CN283296.
DR MeSH; D065886.
//
ID Sulfide:quinone oxidoreductase deficiency.
AC DI-06038
AR SQORD.
DE An autosomal recessive disorder of hydrogen sulfide metabolism
DE characterized by a variable phenotype. Some patients present with
DE encephalopathy, clinical manifestations of Leigh syndrome, and may
DE have a fatal disease course. Others are asymptomatic. Additional
DE features may include lactic acidosis and decreased mitochondrial
DE respiratory chain complex IV activity in tissues.
DR MIM; 619221; phenotype.
DR MedGen; CN295794.
DR MeSH; D008661.
//
ID Sulfite oxidase deficiency, isolated.
AC DI-01843
AR ISOD.
DE A life-threatening, autosomal recessive neurometabolic disorder
DE characterized by severe neurological impairment. Classic ISOD
DE manifests in the first few hours to days of life and is characterized
DE by intractable seizures, feeding difficulties, rapidly progressive
DE encephalopathy, microcephaly, and profound intellectual disability.
DE Children usually die during the first few months of life. Mild ISOD
DE manifests in infancy or early childhood and is characterized by
DE ectopia lentis that is variably present, developmental delay and
DE regression, movement disorder characterized by dystonia and
DE choreoathetosis, ataxia, and rarely acute hemiplegia due to metabolic
DE stroke.
SY Sulfocysteinuria.
DR MIM; 272300; phenotype.
DR MedGen; C0268624.
DR MedGen; C2931746.
DR MedGen; CN068763.
DR MeSH; D020739.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Supravalvular aortic stenosis.
AC DI-02347
AR SVAS.
DE Congenital narrowing of the ascending aorta which can occur
DE sporadically, as an autosomal dominant condition, or as one component
DE of Williams-Beuren syndrome.
DR MIM; 185500; phenotype.
DR MedGen; C0003499.
DR MedGen; C2936909.
//
ID Sveinsson chorioretinal atrophy.
AC DI-02349
AR SCRA.
DE Characterized by symmetrical lesions radiating from the optic disk
DE involving the retina and the choroid.
SY AA.
SY Atrophia areata.
SY Helicoidal peripapillary chorioretinal degeneration.
SY HPCD.
DR MIM; 108985; phenotype.
DR MedGen; C1862382.
//
ID Sweeney-Cox syndrome.
AC DI-05122
AR SWCOS.
DE An autosomal dominant syndrome characterized by facial dysostosis,
DE including hypertelorism, deficiencies of the eyelids and facial bones,
DE cleft palate/velopharyngeal insufficiency, and low-set cupped ears.
DR MIM; 617746; phenotype.
DR MedGen; CN570503.
DR MeSH; D003394.
//
ID Symphalangism, proximal 1A.
AC DI-02350
AR SYM1A.
DE A disease characterized by the hereditary absence of the proximal
DE interphalangeal joints. Distal interphalangeal joints are less
DE frequently involved and metacarpophalangeal joints are rarely affected
DE whereas carpal bone malformation and fusion are common. In the lower
DE extremities, tarsal bone coalition is common. Conductive hearing loss
DE is seen and is due to fusion of the stapes to the petrous part of the
DE temporal bone.
SY Cushing symphalangism.
SY Hereditary absence of the proximal interphalangeal joints.
SY SYM1.
DR MIM; 185800; phenotype.
DR MedGen; C1861385.
DR MeSH; D007592.
//
ID Symphalangism, proximal 1B.
AC DI-03804
AR SYM1B.
DE A disease characterized by the hereditary absence of the proximal
DE interphalangeal joints. Distal interphalangeal joints are less
DE frequently involved and metacarpophalangeal joints are rarely affected
DE whereas carpal bone malformation and fusion are common. In the lower
DE extremities, tarsal bone coalition is common. Conductive hearing loss
DE is seen and is due to fusion of the stapes to the petrous part of the
DE temporal bone.
DR MIM; 615298; phenotype.
DR MedGen; C3809104.
DR MedGen; CN177832.
DR MeSH; D007592.
//
ID Symptomatic deficiency in lactate transport.
AC DI-02351
AR SDLT.
DE Deficiency of lactate transporter may result in an acidic
DE intracellular environment created by muscle activity with consequent
DE degeneration of muscle and release of myoglobin and creatine kinase.
DE This defect might compromise extreme performance in otherwise healthy
DE individuals.
SY Erythrocyte lactate transporter defect.
DR MIM; 245340; phenotype.
DR MedGen; C1855577.
//
ID Syndactyly 3.
AC DI-02352
AR SDTY3.
DE A form of syndactyly, a congenital anomaly of the hand or foot marked
DE by persistence of the webbing between adjacent digits that are more or
DE less completely attached. In SDTY3, there is usually complete and
DE bilateral syndactyly between the fourth and fifth fingers. Usually it
DE is soft tissue syndactyly but occasionally the distal phalanges are
DE fused. The fifth finger is short with absent or rudimentary middle
DE phalanx. The feet are not affected.
SY Ring and little finger syndactyly.
SY Syndactyly of fingers IV and V.
SY Syndactyly type III.
DR MIM; 186100; phenotype.
DR MedGen; C1861366.
DR MeSH; D013576.
//
ID Syndactyly 4.
AC DI-02353
AR SDTY4.
DE A form of syndactyly, a congenital anomaly of the hand or foot marked
DE by persistence of the webbing between adjacent digits that are more or
DE less completely attached. SDTY4 is characterized by complete bilateral
DE syndactyly (involving all digits 1 to 5). A frequent association with
DE polydactyly (with six metacarpals and six digits) has been reported.
DE Feet are affected occasionally.
SY Haas type syndactyly.
SY Polysyndactyly Haas type.
SY SD4.
SY Syndactyly type IV.
DR MIM; 186200; phenotype.
DR MedGen; C1861355.
DR MeSH; D013576.
//
ID Syndactyly 5.
AC DI-02354
AR SDTY5.
DE A form of syndactyly, a congenital anomaly of the hand or foot marked
DE by persistence of the webbing between adjacent digits that are more or
DE less completely attached. The characteristic finding in SDTY5 is the
DE presence of an associated metacarpal and metatarsal fusion. The
DE metacarpals and metatarsals most commonly fused are the 4th and 5th or
DE the 3rd and 4th. Soft tissue syndactyly usually affects the 3rd and
DE 4th fingers and the 2nd and 3rd toes.
SY Syndactyly type V.
SY Syndactyly with metacarpal and metatarsal fusion.
DR MIM; 186300; phenotype.
DR MedGen; C1861348.
DR MeSH; D013576.
//
ID Syndactyly, mesoaxial synostotic, with phalangeal reduction.
AC DI-04323
AR MSSD.
DE An autosomal recessive, non-syndromic digit anomaly characterized by
DE mesoaxial osseous synostosis at a metacarpal level, reduction of one
DE or more phalanges, hypoplasia of distal phalanges of preaxial and
DE postaxial digits, clinodactyly of fifth fingers, and preaxial fusion
DE of toes.
SY Mesoaxial synostotic syndactyly, Malik-Percin type.
SY Syndactyly, Malik-Percin type.
SY Syndactyly, type IX.
DR MIM; 609432; phenotype.
DR MedGen; C1836206.
DR MeSH; D013576.
//
ID Synpolydactyly 1.
AC DI-02355
AR SPD1.
DE Limb malformation that shows a characteristic manifestation in both
DE hands and feet. This condition is inherited as an autosomal dominant
DE trait with reduced penetrance.
SY SDYT2.
SY Syndactyly type 2.
DR MIM; 186000; phenotype.
DR MedGen; C1861367.
DR MedGen; C1861368.
//
ID Systemic lupus erythematosus.
AC DI-02648
AR SLE.
DE A chronic, relapsing, inflammatory, and often febrile multisystemic
DE disorder of connective tissue, characterized principally by
DE involvement of the skin, joints, kidneys and serosal membranes. It is
DE of unknown etiology, but is thought to represent a failure of the
DE regulatory mechanisms of the autoimmune system. The disease is marked
DE by a wide range of system dysfunctions, an elevated erythrocyte
DE sedimentation rate, and the formation of LE cells in the blood or bone
DE marrow.
DR MIM; 152700; phenotype.
DR MedGen; C0024141.
DR MedGen; C1835308.
DR MedGen; C1835309.
DR MeSH; D008180.
KW KW-0772:Systemic lupus erythematosus.
//
ID Systemic lupus erythematosus 1.
AC DI-02649
AR SLEB1.
DE A chronic, relapsing, inflammatory, and often febrile multisystemic
DE disorder of connective tissue, characterized principally by
DE involvement of the skin, joints, kidneys and serosal membranes. It is
DE of unknown etiology, but is thought to represent a failure of the
DE regulatory mechanisms of the autoimmune system. The disease is marked
DE by a wide range of system dysfunctions, an elevated erythrocyte
DE sedimentation rate, and the formation of LE cells in the blood or bone
DE marrow.
DR MIM; 601744; phenotype.
DR MedGen; C1864265.
DR MedGen; C1866373.
DR MeSH; D008180.
KW KW-0772:Systemic lupus erythematosus.
//
ID Systemic lupus erythematosus 10.
AC DI-02652
AR SLEB10.
DE A chronic, relapsing, inflammatory, and often febrile multisystemic
DE disorder of connective tissue, characterized principally by
DE involvement of the skin, joints, kidneys and serosal membranes. It is
DE of unknown etiology, but is thought to represent a failure of the
DE regulatory mechanisms of the autoimmune system. The disease is marked
DE by a wide range of system dysfunctions, an elevated erythrocyte
DE sedimentation rate, and the formation of LE cells in the blood or bone
DE marrow.
DR MIM; 612251; phenotype.
DR MedGen; C2677097.
DR MeSH; D008180.
KW KW-0772:Systemic lupus erythematosus.
//
ID Systemic lupus erythematosus 11.
AC DI-02653
AR SLEB11.
DE A chronic, relapsing, inflammatory, and often febrile multisystemic
DE disorder of connective tissue, characterized principally by
DE involvement of the skin, joints, kidneys and serosal membranes. It is
DE of unknown etiology, but is thought to represent a failure of the
DE regulatory mechanisms of the autoimmune system. The disease is marked
DE by a wide range of system dysfunctions, an elevated erythrocyte
DE sedimentation rate, and the formation of LE cells in the blood or bone
DE marrow.
DR MIM; 612253; phenotype.
DR MedGen; C2677096.
DR MeSH; D008180.
KW KW-0772:Systemic lupus erythematosus.
//
ID Systemic lupus erythematosus 16.
AC DI-03334
AR SLEB16.
DE A rare autosomal recessive form of systemic lupus erythematosus with
DE childhood onset, characterized by high frequency of anti-neutrophil
DE cytoplasmic antibodies and lupus nephritis. Systemic lupus
DE erythematosus is a chronic, relapsing, inflammatory, and often febrile
DE multisystemic disorder of connective tissue, characterized principally
DE by involvement of the skin, joints, kidneys and serosal membranes. It
DE is of unknown etiology, but is thought to represent a failure of the
DE regulatory mechanisms of the autoimmune system. The disease is marked
DE by a wide range of system dysfunctions, an elevated erythrocyte
DE sedimentation rate, and the formation of LE cells in the blood or bone
DE marrow.
DR MIM; 614420; phenotype.
DR MedGen; C3280742.
DR MeSH; D008180.
KW KW-0772:Systemic lupus erythematosus.
//
ID Systemic lupus erythematosus 2.
AC DI-02650
AR SLEB2.
DE A chronic, relapsing, inflammatory, and often febrile multisystemic
DE disorder of connective tissue, characterized principally by
DE involvement of the skin, joints, kidneys and serosal membranes. It is
DE of unknown etiology, but is thought to represent a failure of the
DE regulatory mechanisms of the autoimmune system. The disease is marked
DE by a wide range of system dysfunctions, an elevated erythrocyte
DE sedimentation rate, and the formation of LE cells in the blood or bone
DE marrow.
DR MIM; 605218; phenotype.
DR MedGen; C1854577.
DR MeSH; D008180.
KW KW-0772:Systemic lupus erythematosus.
//
ID Systemic lupus erythematosus 6.
AC DI-02654
AR SLEB6.
DE A chronic, relapsing, inflammatory, and often febrile multisystemic
DE disorder of connective tissue, characterized principally by
DE involvement of the skin, joints, kidneys and serosal membranes. It is
DE of unknown etiology, but is thought to represent a failure of the
DE regulatory mechanisms of the autoimmune system. The disease is marked
DE by a wide range of system dysfunctions, an elevated erythrocyte
DE sedimentation rate, and the formation of LE cells in the blood or bone
DE marrow.
DR MIM; 609939; phenotype.
DR MedGen; C1835919.
DR MeSH; D008180.
KW KW-0772:Systemic lupus erythematosus.
//
ID Systemic lupus erythematosus 9.
AC DI-02651
AR SLEB9.
DE A chronic, relapsing, inflammatory, and often febrile multisystemic
DE disorder of connective tissue, characterized principally by
DE involvement of the skin, joints, kidneys and serosal membranes. It is
DE of unknown etiology, but is thought to represent a failure of the
DE regulatory mechanisms of the autoimmune system. The disease is marked
DE by a wide range of system dysfunctions, an elevated erythrocyte
DE sedimentation rate, and the formation of LE cells in the blood or bone
DE marrow.
DR MIM; 610927; phenotype.
DR MedGen; C1970455.
DR MeSH; D008180.
KW KW-0772:Systemic lupus erythematosus.
//
ID Systemic primary carnitine deficiency.
AC DI-02356
AR CDSP.
DE Autosomal recessive disorder of fatty acid oxidation caused by
DE defective carnitine transport. Present early in life with hypoketotic
DE hypoglycemia and acute metabolic decompensation, or later in life with
DE skeletal myopathy or cardiomyopathy.
DR MIM; 212140; phenotype.
DR MedGen; C0342788.
//
ID T-cell immunodeficiency with thymic aplasia.
AC DI-05795
AR TIDTA.
DE An autosomal recessive disorder characterized by selective hypo- or
DE aplasia of the thymus, T-cell immunodeficiency due to impaired T-cell
DE development, and increased susceptibility to viral infections.
SY Immune defect due to absence of thymus.
SY Nezelof syndrome.
SY T-lymphocyte deficiency.
DR MIM; 242700; phenotype.
DR MedGen; C2752083.
DR MeSH; D007153.
//
ID T-cell immunodeficiency, congenital alopecia, and nail dystrophy.
AC DI-02357
AR TIDAND.
DE A disorder characterized by the association of congenital alopecia,
DE severe T-cell immunodeficiency, and ridging and pitting of all nails.
SY Pignata Guarino syndrome.
SY Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy.
SY Winged helix deficiency.
DR MIM; 601705; phenotype.
DR MedGen; C1866426.
DR MeSH; D000505.
DR MeSH; D007153.
DR MeSH; D009260.
KW KW-1063:Hypotrichosis.
//
ID T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations.
AC DI-03600
AR TIIAC.
DE A primary T-cell immunodeficiency syndrome characterized by
DE progressive loss of naive T-cells, recurrent bacterial, viral, and
DE fungal infections, warts, and abscesses, autoimmune manifestations,
DE and cardiac malformations, including atrial septal defect.
SY MST1 deficiency.
SY STK4 deficiency.
DR MIM; 614868; phenotype.
DR MedGen; C3553943.
DR MedGen; CN158716.
DR MeSH; D007153.
//
ID T-cell lymphoma, subcutaneous panniculitis-like.
AC DI-05542
AR SPTCL.
DE An uncommon form of T-cell non-Hodgkin lymphoma, in which cytotoxic
DE CD8+ T-cells infiltrate subcutaneous adipose tissue, and rimming
DE adipocytes in a lace-like pattern. Affected individuals typically
DE present with multiple subcutaneous nodules, systemic B-cell symptoms,
DE and, in a subset of cases, autoimmune disorders, most commonly
DE systemic lupus erythematosus. A subset of patients develop
DE hemophagocytic lymphohistiocytosis. SPTCL transmission pattern is
DE consistent with autosomal recessive inheritance with incomplete
DE penetrance.
DR MIM; 618398; phenotype.
DR MedGen; C0522624.
DR MeSH; D015434.
DR MeSH; D016399.
//
ID T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant.
AC DI-05787
AR TLIND.
DE An autosomal dominant disorder characterized by decreased numbers of T
DE cells, particularly cytotoxic CD8+ T cells, and increased
DE susceptibility to recurrent infections, mainly respiratory viral
DE infections. Additional features may include impaired thymic
DE development, skin abnormalities, such as atopic dermatitis, and nail
DE dystrophy.
DR MIM; 618806; phenotype.
DR MedGen; CN263366.
DR MeSH; D008231.
//
ID Takenouchi-Kosaki syndrome.
AC DI-04631
AR TKS.
DE An autosomal dominant syndrome characterized by macrothrombocytopenia,
DE lymphedema, intellectual disability, developmental delay, and
DE distinctive facial features.
DR MIM; 616737; phenotype.
DR MedGen; CN234779.
DR MeSH; D008607.
DR MeSH; D013921.
KW KW-0991:Intellectual disability.
//
ID Tangier disease.
AC DI-01742
AR TGD.
DE An autosomal recessive disorder characterized by near absence of
DE plasma high density lipoproteins, low serum HDL cholesterol, and
DE massive tissue deposition of cholesterol esters. Clinical features
DE include large yellow-orange tonsils, hepatomegaly, splenomegaly,
DE enlarged lymph nodes, and often sensory polyneuropathy.
SY Analphalipoproteinemia.
SY HDLD1.
SY High density lipoprotein deficiency, Tangier Type.
SY High density lipoprotein deficiency 1.
DR MIM; 205400; phenotype.
DR MedGen; C0039292.
DR MeSH; D013631.
//
ID Tardive tibial muscular dystrophy.
AC DI-02358
AR TMD.
DE Autosomal dominant, late-onset distal myopathy. Muscle weakness and
DE atrophy are usually confined to the anterior compartment of the lower
DE leg, in particular the tibialis anterior muscle. Clinical symptoms
DE usually occur at age 35-45 years or much later.
SY Udd myopathy.
DR MIM; 600334; phenotype.
DR MedGen; C1838244.
//
ID TARP syndrome.
AC DI-02837
AR TARPS.
DE A disorder characterized by the Robin sequence (micrognathia,
DE glossoptosis and cleft palate), talipes equinovarus and cardiac
DE defects.
SY Pierre Robin syndrome with congenital heart malformation and clubfoot.
SY Talipes equinovarus atrial septal defect robin sequence and persistence of left superior vena cava.
DR MIM; 311900; phenotype.
DR MedGen; C1839463.
DR MeSH; D003025.
//
ID Tarsal-carpal coalition syndrome.
AC DI-02359
AR TCC.
DE Autosomal dominant disorder characterized by fusion of the carpals,
DE tarsals and phalanges, short first metacarpals causing brachydactyly,
DE and humeroradial fusion. TCC is allelic to SYM1, and different
DE mutations in NOG can result in either TCC or SYM1 in different
DE families.
DR MIM; 186570; phenotype.
DR MedGen; C1861305.
DR MedGen; C1861306.
//
ID Tatton-Brown-Rahman syndrome.
AC DI-04151
AR TBRS.
DE An overgrowth syndrome characterized by a distinctive facial
DE appearance, tall stature and intellectual disability. Facial gestalt
DE is characterized by a round face, heavy horizontal eyebrows and narrow
DE palpebral fissures. Less common features include atrial septal
DE defects, seizures, umbilical hernia, and scoliosis.
SY DNMT3A overgrowth syndrome.
DR MIM; 615879; phenotype.
DR MedGen; CN189716.
DR MeSH; D006130.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Teebi hypertelorism syndrome 1.
AC DI-05364
AR TBHS1.
DE A form of Teebi hypertelorism syndrome, a syndrome characterized by an
DE abnormally increased distance between ocular orbits, and facial
DE features that can resemble craniofrontonasal dysplasia such as
DE prominent forehead, widow's peak, heavy and broad eyebrows, long
DE palpebral fissures, ptosis, high and broad nasal bridge, short nose,
DE low-set ears, natal teeth, thin upper lip and a grooved chin. Some
DE affected individuals have limb, urogenital, umbilical and cardiac
DE defects. Developmental delay and/or impaired intellectual development
DE have been observed in some patients. TBHS1 inheritance is autosomal
DE dominant.
SY BBB syndrome.
SY Brachycephalofrontonasal dysplasia.
SY Chromosome 22q11.2 deletion syndrome, Opitz phenotype.
SY GBBB syndrome.
SY G syndrome.
SY Hypertelorism, Teebi type.
SY Hypertelorism-hypospadias syndrome.
SY Hypertelorism with esophageal abnormality and hypospadias.
SY Hypospadias-dysphagia syndrome.
SY OGS2.
SY Opitz BBBG syndrome.
SY Opitz-Frias syndrome.
SY Opitz GBBB syndrome, autosomal dominant.
SY Opitz-G syndrome, type II.
SY Opitz oculogenitolaryngeal syndrome, type II.
SY TBHS.
SY Teebi hypertelorism syndrome.
DR MIM; 145420; phenotype.
DR MedGen; C0796179.
DR MeSH; D006972.
//
ID Teebi hypertelorism syndrome 2.
AC DI-06331
AR TBHS2.
DE A form of Teebi hypertelorism syndrome, a syndrome characterized by an
DE abnormally increased distance between ocular orbits, and facial
DE features that can resemble craniofrontonasal dysplasia such as
DE prominent forehead, widow's peak, heavy and broad eyebrows, long
DE palpebral fissures, ptosis, high and broad nasal bridge, short nose,
DE low-set ears, natal teeth, thin upper lip and a grooved chin. Some
DE affected individuals have limb, urogenital, umbilical and cardiac
DE defects. Developmental delay and/or impaired intellectual development
DE have been observed in some patients. TBHS2 inheritance is autosomal
DE dominant.
DR MIM; 619736; phenotype.
DR MedGen; CN306231.
DR MeSH; D006972.
//
ID Telangiectasia, hereditary hemorrhagic, 1.
AC DI-01716
AR HHT1.
DE A multisystemic vascular dysplasia leading to dilation of permanent
DE blood vessels and arteriovenous malformations of skin, mucosa, and
DE viscera. The disease is characterized by recurrent epistaxis and
DE gastro-intestinal hemorrhage. Visceral involvement includes
DE arteriovenous malformations of the lung, liver, and brain.
SY Hereditary hemorrhagic telangiectasia of Rendu, Osler, and Weber.
SY ORW1.
SY ORW disease.
SY Osler-Rendu-Weber syndrome.
SY Osler-Rendu-Weber syndrome 1.
DR MIM; 187300; phenotype.
DR MedGen; C0039445.
DR MedGen; CN034812.
DR MeSH; D013683.
//
ID Telangiectasia, hereditary hemorrhagic, 2.
AC DI-01717
AR HHT2.
DE A multisystemic vascular dysplasia leading to dilation of permanent
DE blood vessels and arteriovenous malformations of skin, mucosa, and
DE viscera. The disease is characterized by recurrent epistaxis and
DE gastro-intestinal hemorrhage. Visceral involvement includes
DE arteriovenous malformations of the lung, liver, and brain.
DR MIM; 600376; phenotype.
DR MedGen; C1832529.
DR MedGen; C1838163.
DR MeSH; D013683.
//
ID Telangiectasia, hereditary hemorrhagic, 5.
AC DI-03967
AR HHT5.
DE A multisystemic vascular dysplasia leading to dilation of permanent
DE blood vessels and arteriovenous malformations of skin, mucosa, and
DE viscera. The disease is characterized by recurrent epistaxis and
DE gastro-intestinal hemorrhage. Visceral involvement includes
DE arteriovenous malformations of the lung, liver, and brain.
DR MIM; 615506; phenotype.
DR MedGen; C3809710.
DR MedGen; CN181197.
DR MeSH; D013683.
//
ID Temple-Baraitser syndrome.
AC DI-04297
AR TMBTS.
DE A developmental disorder characterized by intellectual disability,
DE epilepsy, hypoplasia or aplasia of the thumb and great toe nails, and
DE broadening and/or elongation of the thumbs and halluces, which have a
DE tubular aspect. Some patients show facial dysmorphism.
SY TBS.
DR MIM; 611816; phenotype.
DR MedGen; C2678486.
DR MeSH; D008607.
DR MeSH; D009264.
DR MeSH; D017880.
KW KW-0887:Epilepsy.
KW KW-0991:Intellectual disability.
//
ID Temtamy preaxial brachydactyly syndrome.
AC DI-03156
AR TPBS.
DE A syndrome characterized by multiple congenital anomalies,
DE intellectual disability, sensorineural deafness, talon cusps of upper
DE central incisors, growth retardation, and bilateral symmetric digital
DE anomalies mainly in the form of preaxial brachydactyly and
DE hyperphalangism.
SY Preaxial brachydactyly syndrome Temtamy type.
DR MIM; 605282; phenotype.
DR MedGen; C1854466.
DR MeSH; D000015.
//
ID Temtamy syndrome.
AC DI-03719
AR TEMTYS.
DE An autosomal recessive syndrome characterized by intellectual
DE disability, variable craniofacial dysmorphism, ocular coloboma,
DE seizures, and brain abnormalities, including abnormalities of the
DE corpus callosum and thalamus.
DR MIM; 218340; phenotype.
DR MedGen; C1857512.
DR MeSH; D003103.
DR MeSH; D019465.
DR MeSH; D061085.
KW KW-0991:Intellectual disability.
//
ID Tenorio syndrome.
AC DI-04352
AR TNORS.
DE A disease characterized by overgrowth, macrocephaly, and intellectual
DE disability. Some patients may have mild hydrocephaly, hypoglycemia,
DE and inflammatory diseases resembling Sjogren syndrome.
SY Overgrowth, macrocephaly, and intellectual disability syndrome.
DR MIM; 616260; phenotype.
DR MedGen; CN228398.
DR MeSH; D001848.
DR MeSH; D008607.
DR MeSH; D058627.
KW KW-0991:Intellectual disability.
//
ID Terminal osseous dysplasia.
AC DI-02914
AR TOD.
DE A rare X-linked dominant male-lethal disease characterized by skeletal
DE dysplasia of the limbs, pigmentary defects of the skin and recurrent
DE digital fibroma during infancy. A significant phenotypic variability
DE is observed in affected females.
SY Digital osseous dysplasia with facial pigmentary defects and multiple frenula.
SY ODPD.
SY ODPF.
SY ODPF syndrome.
SY Osseous dysplasia and pigmentary defects.
SY Terminal osseous dysplasia and pigmentary defects.
SY TODPD.
DR MIM; 300244; phenotype.
DR MedGen; C1846129.
DR MeSH; D001848.
//
ID Tessadori-van Haaften neurodevelopmental syndrome 1.
AC DI-06350
AR TEVANED1.
DE An autosomal dominant disorder with onset in infancy, characterized by
DE poor overall growth, microcephaly, hypotonia, profound global
DE developmental delay, impaired intellectual development, poor or absent
DE speech, and characteristic dysmorphic facial features, including
DE hypertelorism and abnormal nose. Other variable neurologic and
DE systemic features may also occur.
DR MIM; 619758; phenotype.
DR MedGen; CN306733.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Tessadori-van Haaften neurodevelopmental syndrome 2.
AC DI-06351
AR TEVANED2.
DE An autosomal dominant disorder characterized by poor overall growth,
DE microcephaly, hypotonia, profound global developmental delay, impaired
DE intellectual development, absent speech, and characteristic dysmorphic
DE facial features, including hypertelorism, abnormal nose, and wide
DE mouth.
DR MIM; 619759; phenotype.
DR MedGen; CN306735.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Testicular anomalies with or without congenital heart disease.
AC DI-03956
AR TACHD.
DE A 46,XY disorder of sex development with variable clinical
DE presentation and defects in testicular differentiation and function.
DE Clinical features include ambiguous genitalia, fused labioscrotal
DE folds, hypospadias, microphallus, and bilateral inguinal hernia
DE containing gonads.
DR MIM; 615542; phenotype.
DR MedGen; C3809858.
DR MedGen; CN181765.
DR MeSH; D058490.
//
ID Testicular germ cell tumor.
AC DI-02749
AR TGCT.
DE A common malignancy in males representing 95% of all testicular
DE neoplasms. TGCTs have various pathologic subtypes including:
DE unclassified intratubular germ cell neoplasia, seminoma (including
DE cases with syncytiotrophoblastic cells), spermatocytic seminoma,
DE embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma.
SY Embryonal cell carcinoma.
SY Endodermal sinus tumor.
SY Male germ cell tumor.
SY MGCT.
SY Nonseminomatous germ cell tumors.
SY Seminoma.
SY Spermatocytic seminoma.
SY Teratoma testicular.
DR MIM; 273300; phenotype.
DR MedGen; C0014145.
DR MedGen; C0036631.
DR MedGen; C0238451.
DR MedGen; C0334517.
DR MedGen; C1266158.
DR MedGen; C1336708.
DR MedGen; C1848887.
DR MedGen; C3463918.
DR MeSH; D013736.
DR MeSH; D018239.
//
ID Tetraamelia syndrome 1.
AC DI-01262
AR TETAMS1.
DE A form of tetraamelia, a rare disease characterized by rudimentary
DE appendages or complete absence of all four limbs, and other anomalies
DE such as craniofacial, nervous system, pulmonary, skeletal and
DE urogenital defects. TETAMS1 patients manifest complete limb agenesis
DE without defects of scapulae or clavicles. Other features include
DE bilateral cleft lip/palate, diaphragmatic defect with bilobar right
DE lung, renal and adrenal agenesis, pelvic hypoplasia, and urogenital
DE defects. TETAMS1 transmission pattern is consistent with autosomal
DE recessive inheritance.
SY Autosomal recessive tetra-amelia.
SY Tetraamelia syndrome, autosomal recessive.
DR MIM; 273395; phenotype.
DR MedGen; C4012268.
DR MeSH; D004480.
//
ID Tetraamelia syndrome 2.
AC DI-05280
AR TETAMS2.
DE A form of tetraamelia, a rare disease characterized by rudimentary
DE appendages or complete absence of all four limbs, and other anomalies
DE such as craniofacial, nervous system, pulmonary, skeletal and
DE urogenital defects. TETAMS2 patients manifest limb deformities,
DE bilateral agenesis of the lungs, abnormalities of the pulmonary
DE vasculature, labioscrotal fold aplasia, and dysmorphic features
DE including bilateral cleft lip/palate, ankyloglossia, mandibular
DE hypoplasia, and microretrognathia. TETAMS2 transmission pattern is
DE consistent with autosomal recessive inheritance.
DR MIM; 618021; phenotype.
DR MedGen; CN248528.
DR MeSH; D004480.
//
ID Tetralogy of Fallot.
AC DI-02362
AR TOF.
DE A congenital heart anomaly which consists of pulmonary stenosis,
DE ventricular septal defect, dextroposition of the aorta (aorta is on
DE the right side instead of the left) and hypertrophy of the right
DE ventricle. In this condition, blood from both ventricles (oxygen-rich
DE and oxygen-poor) is pumped into the body often causing cyanosis.
DR MIM; 187500; phenotype.
DR MedGen; C0039685.
DR MeSH; D013771.
//
ID Thanatophoric dysplasia 1.
AC DI-02363
AR TD1.
DE A neonatal lethal skeletal dysplasia. Affected individuals manifest
DE severe shortening of the limbs with macrocephaly, narrow thorax, short
DE ribs, and curved femurs.
SY Lethal short-limbed platyspondylic dwarfism San Diego type.
SY Platyspondylic lethal skeletal dysplasia San Diego type.
SY Thanatophoric dwarfism.
SY Thanatophoric dysplasia type I.
DR MIM; 187600; phenotype.
DR MedGen; C1868678.
DR MedGen; C2674173.
DR MeSH; D013796.
KW KW-0242:Dwarfism.
//
ID Thanatophoric dysplasia 2.
AC DI-03093
AR TD2.
DE A neonatal lethal skeletal dysplasia causing severe shortening of the
DE limbs, narrow thorax and short ribs. Patients with thanatophoric
DE dysplasia type 2 have straight femurs and cloverleaf skull.
SY Cloverleaf skull with thanatophoric dwarfism.
SY Thanatophoric dysplasia type II.
SY Thanatophoric dysplasia with kleeblattschaedel.
SY Thanatophoric dysplasia with straight femurs and cloverleaf skull.
DR MIM; 187601; phenotype.
DR MedGen; C1300257.
DR MeSH; D013796.
KW KW-0242:Dwarfism.
//
ID Thauvin-Robinet-Faivre syndrome.
AC DI-04839
AR TROFAS.
DE A rare autosomal recessive syndrome characterized by generalized
DE overgrowth, developmental delay, learning disabilities, and variable
DE congenital abnormalities including congenital heart defects, renal
DE dysplasia, and skeletal defects.
DR MIM; 617107; phenotype.
DR MedGen; CN238496.
DR MeSH; D000015.
DR MeSH; D001848.
//
ID Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type.
AC DI-01284
AR THMD2.
DE An autosomal recessive metabolic disorder characterized by episodic
DE encephalopathy, often triggered by febrile illness, presenting as
DE confusion, seizures, external ophthalmoplegia, dysphagia, and
DE sometimes coma and death. If untreated, encephalopathies can result in
DE permanent dystonia. Brain imaging may show characteristic bilateral
DE lesions of the basal ganglia.
SY BBGD.
SY Biotin-responsive basal ganglia disease.
SY BTBGD.
SY Thiamine-responsive encephalopathy.
DR MIM; 607483; phenotype.
DR MedGen; C1843807.
DR MeSH; D001480.
//
ID Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type.
AC DI-03011
AR THMD4.
DE A disease characterized by recurrent episodes of flaccid paralysis and
DE encephalopathy associated with bilateral striatal necrosis and chronic
DE progressive polyneuropathy.
SY Bilateral striatal degeneration and progressive polyneuropathy.
SY Striatal necrosis, bilateral and progressive polyneuropathy.
DR MIM; 613710; phenotype.
DR MedGen; C3150973.
DR MeSH; D001480.
KW KW-0622:Neuropathy.
//
ID Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type.
AC DI-03377
AR THMD5.
DE An autosomal recessive metabolic disorder due to an inborn error of
DE thiamine metabolism. The phenotype is highly variable, but in general,
DE affected individuals have onset in early childhood of acute
DE encephalopathic episodes associated with increased serum and CSF
DE lactate. These episodes result in progressive neurologic dysfunction
DE manifest as gait disturbances, ataxia, dystonia, and spasticity, which
DE in some cases may result in loss of ability to walk. Cognitive
DE function is usually preserved, although mildly delayed development has
DE been reported. These episodes are usually associated with infection
DE and metabolic decompensation. Some patients may have recovery of some
DE neurologic deficits.
SY Episodic encephalopathy due to thiamine pyrophosphokinase deficiency.
DR MIM; 614458; phenotype.
DR MedGen; C3280866.
DR MeSH; D020739.
//
ID Thiamine-responsive megaloblastic anemia syndrome.
AC DI-02365
AR TRMA.
DE An autosomal recessive disease characterized by megaloblastic anemia,
DE diabetes mellitus, and sensorineural deafness. Onset is typically
DE between infancy and adolescence, but all of the cardinal findings are
DE often not present initially. The anemia, and sometimes the diabetes,
DE improves with high doses of thiamine. Other more variable features
DE include optic atrophy, congenital heart defects, short stature, and
DE stroke.
SY Megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness.
SY Rogers syndrome.
SY Thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type).
SY Thiamine-responsive anemia syndrome.
SY Thiamine-responsive myelodysplasia.
SY THMD1.
DR MIM; 249270; phenotype.
DR MedGen; C0342287.
DR MeSH; D000749.
DR MeSH; D003920.
DR MeSH; D006319.
KW KW-0209:Deafness.
KW KW-0219:Diabetes mellitus.
//
ID Thrombocythemia 1.
AC DI-01538
AR THCYT1.
DE A myeloproliferative disorder characterized by excessive platelet
DE production, resulting in increased numbers of circulating platelets.
DE It can be associated with spontaneous hemorrhages and thrombotic
DE episodes.
SY Essential thrombocythemia.
SY Thrombocytosis 1.
DR MIM; 187950; phenotype.
DR MedGen; C0040028.
DR MedGen; C3277671.
DR MeSH; D013920.
//
ID Thrombocythemia 2.
AC DI-03401
AR THCYT2.
DE A myeloproliferative disorder characterized by excessive platelet
DE production, resulting in increased numbers of circulating platelets.
DE It can be associated with spontaneous hemorrhages and thrombotic
DE episodes.
SY Thrombocytosis 2.
DR MIM; 601977; phenotype.
DR MedGen; C3275998.
DR MeSH; D013920.
//
ID Thrombocythemia 3.
AC DI-03402
AR THCYT3.
DE A myeloproliferative disorder characterized by excessive platelet
DE production, resulting in increased numbers of circulating platelets.
DE It can be associated with spontaneous hemorrhages and thrombotic
DE episodes.
SY Thrombocytosis 3.
DR MIM; 614521; phenotype.
DR MedGen; C3281125.
DR MeSH; D013920.
//
ID Thrombocytopenia 1.
AC DI-01098
AR THC1.
DE A form of thrombocytopenia, a hematologic disorder defined by a
DE decrease in the number of platelets in circulating blood, resulting in
DE the potential for increased bleeding and decreased ability for
DE clotting.
SY Thrombocytopenia X-linked.
SY Thrombocytopenia X-linked 1.
SY XLT.
DR MIM; 313900; phenotype.
DR MedGen; C1839163.
DR MedGen; C1839164.
DR MeSH; D013921.
//
ID Thrombocytopenia 2.
AC DI-01099
AR THC2.
DE A form of thrombocytopenia, a hematologic disorder defined by a
DE decrease in the number of platelets in circulating blood, resulting in
DE the potential for increased bleeding and decreased ability for
DE clotting.
SY Thrombocytopenia, autosomal dominant, 2.
SY Thrombocytopenia autosomal dominant 2.
DR MIM; 188000; phenotype.
DR MedGen; C1861185.
DR MeSH; D013921.
//
ID Thrombocytopenia 3.
AC DI-04981
AR THC3.
DE A form of thrombocytopenia, a hematologic disorder defined by a
DE decrease in the number of platelets in circulating blood, resulting in
DE the potential for increased bleeding and decreased ability for
DE clotting. THC3 is an autosomal recessive form characterized by onset
DE in infancy.
DR MIM; 273900; phenotype.
DR MedGen; C2678311.
DR MeSH; D013921.
//
ID Thrombocytopenia 4.
AC DI-01100
AR THC4.
DE A form of thrombocytopenia, a hematologic disorder defined by a
DE decrease in the number of platelets in circulating blood, resulting in
DE the potential for increased bleeding and decreased ability for
DE clotting.
SY Thrombocytopenia autosomal dominant 4.
DR MIM; 612004; phenotype.
DR MedGen; C2677608.
DR MeSH; D013921.
//
ID Thrombocytopenia 5.
AC DI-04335
AR THC5.
DE A form of thrombocytopenia, a hematologic disorder defined by a
DE decrease in the number of platelets in circulating blood, resulting in
DE the potential for increased bleeding and decreased ability for
DE clotting. THC5 is an autosomal dominant disorder, associated with an
DE increased susceptibility to the development of hematologic and solid
DE malignancies.
SY Thrombocytopenia, autosomal dominant, 5.
SY Thrombocytopenia 5 with increased susceptibility to malignancy.
DR MIM; 616216; phenotype.
DR MedGen; CN225711.
DR MeSH; D013921.
//
ID Thrombocytopenia 6.
AC DI-04719
AR THC6.
DE A form of thrombocytopenia, a hematologic disorder defined by a
DE decrease in the number of platelets in circulating blood, resulting in
DE the potential for increased bleeding and decreased ability for
DE clotting. THC6 is an autosomal dominant form. Affected individuals may
DE also have bone abnormalities and an increased risk for myelofibrosis.
SY Thrombocytopenia, autosomal dominant, 6.
DR MIM; 616937; phenotype.
DR MedGen; CN236410.
DR MeSH; D013921.
//
ID Thrombocytopenia 7.
AC DI-05994
AR THC7.
DE A form of thrombocytopenia, a hematologic disorder defined by a
DE decrease in the number of platelets in circulating blood, resulting in
DE the potential for increased bleeding and decreased ability for
DE clotting. THC7 is an autosomal dominant form with highly variable
DE severity, ranging from absence of bleeding symptoms to epistaxis or
DE more severe bleeding episodes.
SY Thrombocytopenia, autosomal dominant, 7.
DR MIM; 619130; phenotype.
DR MedGen; CN293599.
DR MeSH; D013921.
//
ID Thrombocytopenia with beta-thalassemia, X-linked.
AC DI-02461
AR XLTT.
DE An unusual form of thrombocytopenia associated with beta-thalassemia.
DE Patients have splenomegaly and petechiae, moderate thrombocytopenia,
DE prolonged bleeding time due to platelet dysfunction, reticulocytosis
DE and unbalanced (hemo)globin chain synthesis resembling that of beta-
DE thalassemia minor.
SY Thrombocytopenia platelet dysfunction hemolysis and imbalanced globin synthesis.
DR MIM; 314050; phenotype.
DR MedGen; C1839161.
DR MeSH; D013921.
DR MeSH; D017086.
//
ID Thrombocytopenia, anemia, and myelofibrosis.
AC DI-04987
AR THAMY.
DE An autosomal recessive disorder characterized by thrombocytopenia,
DE increased number of giant platelets, and anemia manifesting in early
DE childhood. Bone marrow biopsy shows increased number of megakaryocytes
DE and reticular fibrosis consistent with myelofibrosis.
DR MIM; 617441; phenotype.
DR MedGen; CN242238.
DR MeSH; D000740.
DR MeSH; D013921.
DR MeSH; D055728.
//
ID Thrombocytopenia-absent radius syndrome.
AC DI-04993
AR TAR.
DE An autosomal recessive disorder characterized by bilateral absence of
DE the radii with the presence of both thumbs, thrombocytopenia, low
DE numbers of megakaryocytes, and bleeding episodes in the first year of
DE life. Thrombocytopenic episodes decrease with age. Skeletal anomalies
DE range from absence of radii to virtual absence of upper limbs, with or
DE without lower limb defects such as malformations of the hip and knee.
SY Absent radii and thrombocytopenia.
SY Radial aplasia-thrombocytopenia syndrome.
SY TAR syndrome.
DR MIM; 274000; phenotype.
DR MedGen; C0175703.
DR MeSH; D013921.
DR MeSH; D038062.
//
ID Thrombophilia 13, X-linked, due to factor VIII defect.
AC DI-06326
AR THPH13.
DE An X-linked dominant, hemostatic disorder associated with markedly
DE elevated F8 levels, and characterized by severe thrombophilia.
DR MIM; 301071; phenotype.
DR MedGen; CN306820.
DR MeSH; D019851.
KW KW-0792:Thrombophilia.
//
ID Thrombophilia due to activated protein C resistance.
AC DI-01101
AR THPH2.
DE A hemostatic disorder due to defective degradation of factor V by
DE activated protein C. It is characterized by a poor anticoagulant
DE response to activated protein C resulting in tendency to thrombosis.
SY Activated protein C resistance.
SY APC resistance.
SY PCCF deficiency.
SY PROC cofactor deficiency.
SY Thrombophilia due to deficiency of activated protein C cofactor.
SY Thrombophilia due to factor V Leiden.
SY Thrombophilia V.
DR MIM; 188055; phenotype.
DR MedGen; C1861171.
DR MedGen; C2674152.
DR MeSH; D020016.
KW KW-0792:Thrombophilia.
//
ID Thrombophilia due to heparin cofactor 2 deficiency.
AC DI-00541
AR THPH10.
DE A hemostatic disorder characterized by a tendency to recurrent
DE thrombosis.
SY Heparin cofactor II deficiency.
DR MIM; 612356; phenotype.
DR MedGen; C0398626.
DR MeSH; D019851.
KW KW-0792:Thrombophilia.
//
ID Thrombophilia due to histidine-rich glycoprotein deficiency.
AC DI-02525
AR THPH11.
DE A hemostatic disorder characterized by a tendency to thrombosis.
DR MIM; 613116; phenotype.
DR MedGen; C2751090.
DR MedGen; C2751091.
DR MeSH; D019851.
KW KW-0792:Thrombophilia.
//
ID Thrombophilia due to protein C deficiency, autosomal dominant.
AC DI-00956
AR THPH3.
DE A hemostatic disorder characterized by impaired regulation of blood
DE coagulation and a tendency to recurrent venous thrombosis. Individuals
DE with decreased amounts of protein C are classically referred to as
DE having type I protein C deficiency and those with normal amounts of a
DE functionally defective protein as having type II deficiency.
SY PROC deficiency autosomal dominant.
SY Protein C deficiency autosomal dominant.
DR MIM; 176860; phenotype.
DR MedGen; C2674321.
DR MedGen; C2674322.
DR MeSH; D019851.
DR MeSH; D020151.
KW KW-0792:Thrombophilia.
//
ID Thrombophilia due to protein C deficiency, autosomal recessive.
AC DI-00957
AR THPH4.
DE A hemostatic disorder characterized by impaired regulation of blood
DE coagulation and a tendency to recurrent venous thrombosis. It results
DE in a thrombotic condition that can manifest as a severe neonatal
DE disorder or as a milder disorder with late-onset thrombophilia. The
DE severe form leads to neonatal death through massive neonatal venous
DE thrombosis. Often associated with ecchymotic skin lesions which can
DE turn necrotic called purpura fulminans, this disorder is very rare.
SY PROC deficiency autosomal recessive.
SY Protein C deficiency autosomal recessive.
DR MIM; 612304; phenotype.
DR MedGen; C2676759.
DR MeSH; D019851.
DR MeSH; D020151.
KW KW-0792:Thrombophilia.
//
ID Thrombophilia due to protein S deficiency, autosomal dominant.
AC DI-00958
AR THPH5.
DE A hemostatic disorder characterized by impaired regulation of blood
DE coagulation and a tendency to recurrent venous thrombosis. Based on
DE the plasma levels of total and free PROS1 as well as the serine
DE protease-activated protein C cofactor activity, three types of THPH5
DE have been described: type I, characterized by reduced total and free
DE PROS1 levels together with reduced anticoagulant activity; type III,
DE in which only free PROS1 antigen and PROS1 activity levels are
DE reduced; and the rare type II which is characterized by normal
DE concentrations of both total and free PROS1 antigen, but low cofactor
DE activity.
SY Thrombophilia autosomal dominant due to protein S deficiency.
SY Thrombophilia autosomal recessive due to protein S deficiency.
DR MIM; 612336; phenotype.
DR MedGen; C2676728.
DR MedGen; C3278211.
DR MeSH; D018455.
KW KW-0792:Thrombophilia.
//
ID Thrombophilia due to protein S deficiency, autosomal recessive.
AC DI-03365
AR THPH6.
DE A very rare and severe hematologic disorder resulting in thrombosis
DE and secondary hemorrhage usually beginning in early infancy. Some
DE affected individuals develop neonatal purpura fulminans, multifocal
DE thrombosis, or intracranial hemorrhage.
DR MIM; 614514; phenotype.
DR MedGen; C3281092.
DR MeSH; D018455.
KW KW-0792:Thrombophilia.
//
ID Thrombophilia due to thrombin defect.
AC DI-02665
AR THPH1.
DE A multifactorial disorder of hemostasis characterized by abnormal
DE platelet aggregation in response to various agents and recurrent
DE thrombi formation.
SY Thrombophilia due to factor 2 defect.
SY Venous thromboembolism.
SY Venous thrombosis.
DR MIM; 188050; phenotype.
DR MedGen; C0398623.
DR MedGen; C1861172.
DR MeSH; D019851.
KW KW-0792:Thrombophilia.
//
ID Thrombophilia due to thrombomodulin defect.
AC DI-01102
AR THPH12.
DE A hemostatic disorder characterized by a tendency to thrombosis.
DR MIM; 614486; phenotype.
DR MedGen; C1861173.1.
DR MedGen; C3280976.
DR MeSH; D019851.
KW KW-0792:Thrombophilia.
//
ID Thrombophilia, X-linked, due to factor IX defect.
AC DI-02524
AR THPH8.
DE A hemostatic disorder characterized by a tendency to thrombosis.
DR MIM; 300807; phenotype.
DR MedGen; C2749016.
DR MedGen; C3275410.
DR MeSH; D019851.
KW KW-0792:Thrombophilia.
//
ID Thrombotic thrombocytopenic purpura, hereditary.
AC DI-01421
AR TTP.
DE An autosomal recessive hematologic disease characterized by hemolytic
DE anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse
DE and non-focal neurologic findings, decreased renal function and fever.
SY Deficiency of Upshaw factor.
SY Microangiopathic hemolytic anemia.
SY Microangiopathic hemolytic anemia congenital.
SY Moschkowitz disease.
SY Schulman-Upshaw syndrome.
SY Thrombotic microangiopathy familial.
SY Thrombotic thrombocytopenic purpura familial.
SY Upshaw-Schulman syndrome.
SY USS.
DR MIM; 274150; phenotype.
DR MedGen; C1268935.
DR MedGen; C1956258.
DR MeSH; D011697.
//
ID Thyroid cancer, non-medullary, 1.
AC DI-02698
AR NMTC1.
DE A form of non-medullary thyroid cancer (NMTC), a cancer characterized
DE by tumors originating from the thyroid follicular cells. NMTCs
DE represent approximately 95% of all cases of thyroid cancer and are
DE classified into papillary, follicular, Hurthle cell, and anaplastic
DE neoplasms.
SY Familial non-medullary thyroid cancer.
SY Familial nonmedullary thyroid cancer, papillary.
SY FNMTC.
SY NMTC.
SY Nonmedullary thyroid carcinoma.
SY Non-medullary thyroid carcinoma.
SY Nonmedullary thyroid carcinoma, papillary.
SY PACT.
SY Papillary carcinoma of thyroid.
SY PTC.
SY TPC.
DR MIM; 188550; phenotype.
DR MedGen; C0238463.
DR MeSH; D013964.
//
ID Thyroid cancer, non-medullary, 2.
AC DI-04532
AR NMTC2.
DE A form of non-medullary thyroid cancer (NMTC), a cancer characterized
DE by tumors originating from the thyroid follicular cells. NMTCs
DE represent approximately 95% of all cases of thyroid cancer and are
DE classified into papillary, follicular, Hurthle cell, and anaplastic
DE neoplasms.
DR MIM; 188470; phenotype.
DR MedGen; C0206682.
DR MeSH; D013964.
//
ID Thyroid cancer, non-medullary, 4.
AC DI-04530
AR NMTC4.
DE A form of non-medullary thyroid cancer (NMTC), a cancer characterized
DE by tumors originating from the thyroid follicular cells. NMTCs
DE represent approximately 95% of all cases of thyroid cancer and are
DE classified into papillary, follicular, Hurthle cell, and anaplastic
DE neoplasms.
SY Thyroid cancer, nonmedullary, 4.
DR MIM; 616534; phenotype.
DR MedGen; CN232391.
DR MeSH; D013964.
//
ID Thyroid cancer, non-medullary, 5.
AC DI-04531
AR NMTC5.
DE A form of non-medullary thyroid cancer (NMTC), a cancer characterized
DE by tumors originating from the thyroid follicular cells. NMTCs
DE represent approximately 95% of all cases of thyroid cancer and are
DE classified into papillary, follicular, Hurthle cell, and anaplastic
DE neoplasms.
SY Thyroid cancer, nonmedullary, 5.
DR MIM; 616535; phenotype.
DR MedGen; CN232392.
DR MeSH; D013964.
//
ID Thyroid dyshormonogenesis 1.
AC DI-00359
AR TDH1.
DE A disorder characterized by the inability of the thyroid to maintain a
DE concentration difference of readily exchangeable iodine between the
DE plasma and the thyroid gland, leading to congenital hypothyroidism.
SY CHDH1.
SY Congenital hypothyroidism due to dyshormonogenesis type 1.
SY Genetic defect in thyroid hormonogenesis 1.
SY Iodine accumulation, transport or trapping defect.
DR MIM; 274400; phenotype.
DR MedGen; C1848805.
DR MeSH; D003409.
KW KW-0984:Congenital hypothyroidism.
//
ID Thyroid dyshormonogenesis 2A.
AC DI-00360
AR TDH2A.
DE A disorder due to defective conversion of accumulated iodide to
DE organically bound iodine. The iodide organification defect can be
DE partial or complete.
SY CHDH2A.
SY Congenital hypothyroidism due to dyshormonogenesis type 2A.
SY Genetic defect in thyroid hormonogenesis 2A.
SY Iodide peroxidase deficiency.
SY Thyroid hormone organification defect 2.
SY TIOD.
DR MIM; 274500; phenotype.
DR MedGen; C1291299.
DR MeSH; D003409.
KW KW-0984:Congenital hypothyroidism.
//
ID Thyroid dyshormonogenesis 3.
AC DI-02526
AR TDH3.
DE A disorder due to thyroid dyshormonogenesis, causing large goiters of
DE elastic and soft consistency in the majority of patients. Although the
DE degree of thyroid dysfunction varies considerably among patients with
DE defective thyroglobulin synthesis, patients usually have a relatively
DE high serum free triiodothyronine (T3) concentration with
DE disproportionately low free tetraiodothyronine (T4) level. The
DE maintenance of relatively high free T3 levels prevents profound tissue
DE hypothyroidism except in brain and pituitary, which are dependent on
DE T4 supply, resulting in neurologic and intellectual defects in some
DE cases.
SY CHDH3.
SY Congenital hypothyroidism due to dyshormonogenesis type 3.
SY Genetic defect in thyroid hormonogenesis type 3.
DR MIM; 274700; phenotype.
DR MedGen; C0342194.
DR MeSH; D003409.
KW KW-0984:Congenital hypothyroidism.
//
ID Thyroid dyshormonogenesis 4.
AC DI-01403
AR TDH4.
DE A disorder due to thyroid dyshormonogenesis, causing severe
DE hypothyroidism, goiter, excessive levels of iodotyrosine in serum and
DE urine, and variable mental deficits derived from unrecognized and
DE untreated hypothyroidism.
SY CHDH4.
SY Congenital hypothyroidism due to dyshormonogenesis type 4.
SY Deiodinase deficiency.
SY Genetic defect in thyroid hormonogenesis type 4.
SY Iodotyrosine dehalogenase deficiency.
DR MIM; 274800; phenotype.
DR MedGen; C0342195.
DR MeSH; D003409.
KW KW-0984:Congenital hypothyroidism.
//
ID Thyroid dyshormonogenesis 5.
AC DI-02527
AR TDH5.
DE A disorder due to thyroid dyshormonogenesis, causing hypothyroidism,
DE goiter, and variable mental deficits derived from unrecognized and
DE untreated hypothyroidism.
SY CHDH5.
SY Congenital hypothyroidism due to dyshormonogenesis type 5.
SY Genetic defect in thyroid hormonogenesis type 5.
DR MIM; 274900; phenotype.
DR MedGen; C0342196.
DR MeSH; D003409.
KW KW-0984:Congenital hypothyroidism.
//
ID Thyroid dyshormonogenesis 6.
AC DI-00361
AR TDH6.
DE A disorder due to a defective conversion of accumulated iodide to
DE organically bound iodine. The iodide organification defect can be
DE partial or complete.
SY CHDH6.
SY Congenital hypothyroidism due to dyshormonogenesis type 6.
SY Genetic defect in thyroid hormonogenesis 6.
DR MIM; 607200; phenotype.
DR MedGen; C1846632.
DR MeSH; D003409.
KW KW-0984:Congenital hypothyroidism.
//
ID Thyroid hormone metabolism, abnormal.
AC DI-00015
AR THMA.
DE A disorder associated with a reduction in type II iodothyronine
DE deiodinase activity.
DR MIM; 609698; phenotype.
DR MedGen; C1864761.
DR MeSH; D013959.
//
ID Thyroid hormone resistance, generalized, autosomal dominant.
AC DI-01654
AR GRTHD.
DE An autosomal dominant disease characterized by high levels of
DE circulating thyroid hormones (T3-T4), goiter, abnormal mental
DE functions, increased susceptibility to infections, abnormal growth and
DE bone maturation, tachycardia and deafness. Affected individuals may
DE also have attention deficit-hyperactivity disorders (ADHD) and
DE language difficulties. Patients have normal or slightly elevated
DE thyroid stimulating hormone (TSH).
SY Familial euthyroid hyperthyroxinemia, secondary to pituitary and peripheral resistance to thyroid hormones.
SY GTHR.
SY Thyroid hormone unresponsiveness.
DR MIM; 188570; phenotype.
DR MedGen; C2937288.
DR MeSH; D006981.
//
ID Thyroid hormone resistance, generalized, autosomal recessive.
AC DI-03097
AR GRTHR.
DE An autosomal recessive disorder characterized by goiter, clinical
DE euthyroidism, end-organ unresponsiveness to thyroid hormone, abnormal
DE growth and bone maturation, and deafness. Patients also have high
DE levels of circulating thyroid hormones, with elevated thyroid
DE stimulating hormone.
SY GTHR.
SY Refetoff syndrome.
SY Thyroid hormone unresponsiveness.
DR MIM; 274300; phenotype.
DR MedGen; C3489796.
DR MeSH; D018382.
//
ID Thyrotoxic periodic paralysis 1.
AC DI-02368
AR TTPP1.
DE A sporadic muscular disorder characterized by episodic weakness and
DE hypokalemia during a thyrotoxic state. It is clinically similar to
DE hereditary hypokalemic periodic paralysis, except for the fact that
DE hyperthyroidism is an absolute requirement for disease manifestation.
DE The disease presents with recurrent episodes of acute muscular
DE weakness of the four extremities that vary in severity from paresis to
DE complete paralysis. Attacks are triggered by ingestion of a high
DE carbohydrate load or strenuous physical activity followed by a period
DE of rest. Thyrotoxic periodic paralysis can occur in association with
DE any cause of hyperthyroidism, but is most commonly associated with
DE Graves disease.
SY Thyrotoxic hypokalemic periodic paralysis.
SY TPP.
DR MIM; 188580; phenotype.
DR MedGen; C0268446.
DR MedGen; C2749982.
DR MeSH; D010245.
//
ID Thyrotoxic periodic paralysis 2.
AC DI-02615
AR TTPP2.
DE A sporadic muscular disorder characterized by episodic weakness and
DE hypokalemia during a thyrotoxic state. It is clinically similar to
DE hereditary hypokalemic periodic paralysis, except for the fact that
DE hyperthyroidism is an absolute requirement for disease manifestation.
DE The disease presents with recurrent episodes of acute muscular
DE weakness of the four extremities that vary in severity from paresis to
DE complete paralysis. Attacks are triggered by ingestion of a high
DE carbohydrate load or strenuous physical activity followed by a period
DE of rest. Thyrotoxic periodic paralysis can occur in association with
DE any cause of hyperthyroidism, but is most commonly associated with
DE Graves disease.
SY Thyrotoxic hypokalemic periodic paralysis.
SY TPP.
DR MIM; 613239; phenotype.
DR MedGen; C2750473.
DR MeSH; D010245.
//
ID Tietz albinism-deafness syndrome.
AC DI-02369
AR TADS.
DE An autosomal dominant disorder characterized by generalized
DE hypopigmentation and congenital, bilateral, profound sensorineural
DE deafness.
SY Albinism-deafness of Tietz.
SY Hypopigmentation/deafness of Tietz.
SY Tietz syndrome.
DR MIM; 103500; phenotype.
DR MedGen; C0391816.
DR MeSH; D003638.
DR MeSH; D016115.
KW KW-0015:Albinism.
KW KW-0209:Deafness.
//
ID Timothy syndrome.
AC DI-02370
AR TS.
DE Disorder characterized by multiorgan dysfunction including lethal
DE arrhythmias, webbing of fingers and toes, congenital heart disease,
DE immune deficiency, intermittent hypoglycemia, cognitive abnormalities
DE and autism.
SY Long QT syndrome with syndactyly.
DR MIM; 601005; phenotype.
DR MedGen; C1832916.
DR MeSH; D008133.
DR MeSH; D013576.
KW KW-0454:Long QT syndrome.
KW KW-1269:Autism.
//
ID Tn polyagglutination syndrome.
AC DI-02372
AR TNPS.
DE A clonal disorder characterized by the polyagglutination of red blood
DE cells by naturally occurring anti-Tn antibodies following exposure of
DE the Tn antigen on the surface of erythrocytes. Only a subset of red
DE cells express the antigen, which can also be expressed on platelets
DE and leukocytes. This condition may occur in healthy individuals who
DE manifest asymptomatic anemia, leukopenia, or thrombocytopenia.
DE However, there is also an association between the Tn antigen and
DE leukemia or myelodysplastic disorders.
SY Galactosyltransferase deficiency.
SY Tn syndrome.
DR MIM; 300622; phenotype.
DR MedGen; C0272137.
DR MeSH; D006402.
//
ID Toe syndactyly, telecanthus, and anogenital and renal malformations.
AC DI-02373
AR STAR.
DE A syndrome characterized by anal, genital and renal tract anomalies,
DE facial dysmorphism and syndactyly. Features include anal stenosis, a
DE rectovaginal fistula, clitoral hypertrophy, a pelvic right kidney, toe
DE syndactyly, and telecanthus.
SY STAR syndrome.
SY Syndactyly with renal and anogenital malformations.
DR MIM; 300707; phenotype.
DR MedGen; C2678045.
DR MeSH; D013576.
DR MeSH; D014564.
//
ID Tolchin-Le Caignec syndrome.
AC DI-05890
AR TOLCAS.
DE An autosomal dominant disorder characterized by mildly to moderately
DE impaired intellectual development and behavioral problems, such as
DE autism, attention deficit and hyperactivity disorder, and aggressive
DE episodes. Highly variable, additional features include osteochondroma,
DE craniosynostosis, dysmorphic facies, arachnodactyly, and large head
DE circumference.
SY Intellectual developmental disorder with behavioral abnormalities and variable bone defects.
DR MIM; 618971; phenotype.
DR MedGen; CN283309.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
KW KW-1268:Autism spectrum disorder.
//
ID Tonne-Kalscheuer syndrome.
AC DI-04795
AR TOKAS.
DE An X-linked recessive disorder characterized by global developmental
DE delay apparent from early infancy, impaired intellectual development,
DE speech delay, behavioral abnormalities, abnormal gait, dysmorphic
DE facial features, limb anomalies, and urogenital abnormalities with
DE hypogenitalism. A subset of more severely affected males develop
DE congenital diaphragmatic hernia in utero, which may result in
DE perinatal or premature death. Carrier females may have very mild
DE skeletal or hormonal abnormalities.
SY MRX61.
DR MIM; 300978; phenotype.
DR MedGen; CN237806.
DR MeSH; D038901.
KW KW-0991:Intellectual disability.
//
ID Tooth agenesis, selective, 1.
AC DI-01211
AR STHAG1.
DE A form of selective tooth agenesis, a common anomaly characterized by
DE the congenital absence of one or more teeth. Selective tooth agenesis
DE without associated systemic disorders has sometimes been divided into
DE 2 types: oligodontia, defined as agenesis of 6 or more permanent
DE teeth, and hypodontia, defined as agenesis of less than 6 teeth. The
DE number in both cases does not include absence of third molars (wisdom
DE teeth). STHAG1 can be associated with orofacial cleft in some
DE patients.
SY Absence of second premolars and third molars.
SY Familial tooth agenesis.
SY HYD1.
SY Hypodontia/oligodontia 1.
SY Hypodontia/oligodontia with orofacial cleft.
SY Selective tooth agenesis 1.
SY Selective tooth agenesis with orofacial cleft.
DR MIM; 106600; phenotype.
DR MedGen; C0020608.
DR MedGen; C1970117.
DR MedGen; C1970118.
DR MedGen; C3489529.
DR MeSH; D000848.
//
ID Tooth agenesis, selective, 3.
AC DI-02091
AR STHAG3.
DE A form of selective tooth agenesis, a common anomaly characterized by
DE the congenital absence of one or more teeth. Selective tooth agenesis
DE without associated systemic disorders has sometimes been divided into
DE 2 types: oligodontia, defined as agenesis of 6 or more permanent
DE teeth, and hypodontia, defined as agenesis of less than 6 teeth. The
DE number in both cases does not include absence of third molars (wisdom
DE teeth).
SY HYD3.
SY Hypodontia/oligodontia 3.
SY Selective tooth agenesis 3.
DR MIM; 604625; phenotype.
DR MedGen; C1970291.
DR MeSH; D000848.
//
ID Tooth agenesis, selective, 4.
AC DI-03619
AR STHAG4.
DE A form of selective tooth agenesis, a common anomaly characterized by
DE the congenital absence of one or more teeth. Selective tooth agenesis
DE without associated systemic disorders has sometimes been divided into
DE 2 types: oligodontia, defined as agenesis of 6 or more permanent
DE teeth, and hypodontia, defined as agenesis of less than 6 teeth. The
DE number in both cases does not include absence of third molars (wisdom
DE teeth). In STHAG4, the upper lateral incisors are absent or peg-
DE shaped. Some STHAG4 patients manifest mild features of ectodermal
DE dysplasia, including sparse hair, sparse eyebrows, short eyelashes,
DE abnormalities of the nails, sweating anomalies and dry skin. STHAG4
DE inheritance is autosomal dominant or autosomal recessive.
SY Absence of lateral incisors.
SY Agenesis of succedaneous teeth.
SY Pegged or missing lateral incisors.
SY Selective tooth agenesis 4.
SY Tooth agenesis, selective, 4, with or without ectodermal dysplasia.
DR MIM; 150400; phenotype.
DR MedGen; C1835492.
DR MedGen; C1835493.
DR MeSH; D000848.
//
ID Tooth agenesis, selective, 7.
AC DI-04606
AR STHAG7.
DE An autosomal dominant form of selective tooth agenesis, a common
DE anomaly characterized by the congenital absence of one or more teeth.
DE Selective tooth agenesis without associated systemic disorders has
DE sometimes been divided into 2 types: oligodontia, defined as agenesis
DE of 6 or more permanent teeth, and hypodontia, defined as agenesis of
DE less than 6 teeth. The number in both cases does not include absence
DE of third molars (wisdom teeth).
SY Selective tooth agenesis 7.
DR MIM; 616724; phenotype.
DR MedGen; CN234662.
DR MeSH; D000848.
//
ID Tooth agenesis, selective, 8.
AC DI-04805
AR STHAG8.
DE A form of selective tooth agenesis, a common anomaly characterized by
DE the congenital absence of one or more teeth. Selective tooth agenesis
DE without associated systemic disorders has sometimes been divided into
DE 2 types: oligodontia, defined as agenesis of 6 or more permanent
DE teeth, and hypodontia, defined as agenesis of less than 6 teeth. The
DE number in both cases does not include absence of third molars (wisdom
DE teeth). STHAG8 inheritance is autosomal dominant.
SY Selective tooth agenesis 8.
DR MIM; 617073; phenotype.
DR MedGen; CN237797.
DR MeSH; D000848.
//
ID Tooth agenesis, selective, 9.
AC DI-04899
AR STHAG9.
DE A form of selective tooth agenesis, a common anomaly characterized by
DE the congenital absence of one or more teeth. Selective tooth agenesis
DE without associated systemic disorders has sometimes been divided into
DE 2 types: oligodontia, defined as agenesis of 6 or more permanent
DE teeth, and hypodontia, defined as agenesis of less than 6 teeth. The
DE number in both cases does not include absence of third molars (wisdom
DE teeth). STHAG9 inheritance is autosomal dominant.
DR MIM; 617275; phenotype.
DR MedGen; CN239933.
DR MeSH; D000848.
//
ID Tooth agenesis, selective, X-linked, 1.
AC DI-01788
AR STHAGX1.
DE A form of selective tooth agenesis, a common anomaly characterized by
DE the congenital absence of one or more teeth. Selective tooth agenesis
DE without associated systemic disorders has sometimes been divided into
DE 2 types: oligodontia, defined as agenesis of 6 or more permanent
DE teeth, and hypodontia, defined as agenesis of less than 6 teeth. The
DE number in both cases does not include absence of third molars (wisdom
DE teeth).
SY Hypodontia/oligodontia X-linked 1.
DR MIM; 313500; phenotype.
DR MedGen; C1970757.
DR MeSH; D000848.
//
ID Tortuosity of retinal arteries.
AC DI-04437
AR RATOR.
DE A disease characterized by marked tortuosity of second- and third-
DE order retinal arteries with normal first-order arteries and venous
DE system. Most patients manifest variable degrees of symptomatic
DE transient vision loss due to retinal hemorrhage following minor stress
DE or trauma.
SY Retinal arteries, tortuosity of.
SY Retinal hemorrhage with vascular tortuosity.
DR MIM; 180000; phenotype.
DR MedGen; C1867327.
DR MeSH; D012166.
//
ID Total anomalous pulmonary venous return.
AC DI-02375
AR TAPVR.
DE Rare congenital heart disease (CHD) in which the pulmonary veins fail
DE to connect to the left atrium during cardiac development, draining
DE instead into either the right atrium or one of its venous tributaries.
DE This disease accounts for 1.5% of all CHDs and has a prevalence of
DE approximately 1 out of 15'000 live births.
DR MIM; 106700; phenotype.
DR MedGen; C0036400.
//
ID Townes-Brocks syndrome 1.
AC DI-02376
AR TBS1.
DE A form of Townes-Brocks syndrome, a rare autosomal dominant disease
DE characterized by the triad of imperforate anus, dysplastic ears, and
DE thumb malformations. Minor features of the condition include hearing
DE loss, foot malformations, renal impairment with or without renal
DE malformations, genitourinary malformations, and congenital heart
DE disease.
SY Anus, imperforate, with hand, foot, and ear anomalies.
SY Deafness, sensorineural, with imperforate anus and thumb anomalies.
SY Rear syndrome.
SY Renal-ear-anal-radial syndrome.
SY Townes-Brocks branchiootorenal-like syndrome.
DR MIM; 107480; phenotype.
DR MedGen; C0265246.
DR MedGen; C1862683.
DR MeSH; D000015.
KW KW-0209:Deafness.
//
ID Townes-Brocks syndrome 2.
AC DI-04995
AR TBS2.
DE A form of Townes-Brocks syndrome, a rare autosomal dominant disease
DE characterized by the triad of imperforate anus, dysplastic ears, and
DE thumb malformations. Minor features of the condition include hearing
DE loss, foot malformations, renal impairment with or without renal
DE malformations, genitourinary malformations, and congenital heart
DE disease.
DR MIM; 617466; phenotype.
DR MedGen; CN243870.
DR MeSH; D000015.
//
ID Transaldolase deficiency.
AC DI-02377
AR TALDOD.
DE An inborn error of the pentose phosphate pathway resulting in early-
DE onset multisystem disease. Clinical features include growth
DE retardation, dysmorphic features, cutis laxa, congenital heart
DE disease, hepatosplenomegaly, telangiectases of the skin, pancytopenia,
DE and bleeding tendency.
SY Eyaid syndrome.
SY TALDO deficiency.
DR MIM; 606003; phenotype.
DR MedGen; C1291329.
DR MeSH; D002239.
//
ID Transcobalamin II deficiency.
AC DI-02378
AR TCN2 deficiency.
DE Results in various forms of anemia.
DR MIM; 275350; phenotype.
DR MedGen; C0342701.
//
ID Transient bullous dermolysis of the newborn.
AC DI-01103
AR TBDN.
DE TBDN is a neonatal form of dystrophic epidermolysis bullosa
DE characterized by sub-epidermal blisters, reduced or abnormal anchoring
DE fibrils at the dermo-epidermal junction, and electron-dense inclusions
DE in keratinocytes. TBDN heals spontaneously or strongly improves within
DE the first months and years of life.
SY Epidermolysis bullosa dystrophica dominant neonatal type.
DR MIM; 131705; phenotype.
DR MedGen; C1851573.
DR MeSH; D016108.
KW KW-0263:Epidermolysis bullosa.
//
ID Transient familial neonatal hyperbilirubinemia.
AC DI-02379
AR HBLRTFN.
DE A condition characterized by excessive concentration of bilirubin in
DE the blood, which may lead to jaundice. Breast milk jaundice is a
DE common problem in nursing infants.
SY Lucey-Driscoll syndrome.
DR MIM; 237900; phenotype.
DR MedGen; C0270210.
DR MedGen; C0270215.
DR MedGen; C1855967.
//
ID Transient neonatal diabetes mellitus 2.
AC DI-02381
AR TNDM2.
DE Neonatal diabetes is a form of diabetes mellitus defined by the onset
DE of mild-to-severe hyperglycemia within the first months of life.
DE Transient neonatal diabetes remits early, with a possible relapse
DE during adolescence.
DR MIM; 610374; phenotype.
DR MedGen; C1835887.
//
ID Transient neonatal diabetes mellitus 3.
AC DI-02382
AR TNDM3.
DE Neonatal diabetes mellitus, defined as insulin-requiring hyperglycemia
DE within the first month of life, is a rare entity. In about half of the
DE neonates, diabetes is transient and resolves at a median age of 3
DE months, whereas the rest have a permanent form of diabetes. In a
DE significant number of patients with transient neonatal diabetes
DE mellitus, diabetes type 2 appears later in life. The onset and
DE severity of TNDM3 is variable with childhood-onset diabetes,
DE gestational diabetes or adult-onset diabetes described.
DR MIM; 610582; phenotype.
DR MedGen; C1864623.
//
ID Transposition of the great arteries dextro-looped 1.
AC DI-02383
AR DTGA1.
DE A congenital heart defect consisting of complete inversion of the
DE great vessels, so that the aorta incorrectly arises from the right
DE ventricle and the pulmonary artery incorrectly arises from the left
DE ventricle. This creates completely separate pulmonary and systemic
DE circulatory systems, an arrangement that is incompatible with life.
DE The presence or absence of associated cardiac anomalies defines the
DE clinical presentation and surgical management of patients with
DE transposition of the great arteries.
SY D-TGA.
DR MIM; 608808; phenotype.
DR MedGen; C1837341.
DR MeSH; D014188.
//
ID Treacher Collins syndrome 1.
AC DI-02384
AR TCS1.
DE A form of Treacher Collins syndrome, a disorder of craniofacial
DE development. Treacher Collins syndrome is characterized by a
DE combination of bilateral downward slanting of the palpebral fissures,
DE colobomas of the lower eyelids with a paucity of eyelashes medial to
DE the defect, hypoplasia of the facial bones, cleft palate, malformation
DE of the external ears, atresia of the external auditory canals, and
DE bilateral conductive hearing loss.
SY Mandibulofacial dysostosis.
SY MFD1.
SY TCOF.
SY TCS.
SY Treacher Collins-Franceschetti syndrome.
SY Treacher Collins syndrome.
DR MIM; 154500; phenotype.
DR MedGen; C0242387.
DR MedGen; CN119605.
DR MeSH; D008342.
//
ID Treacher Collins syndrome 2.
AC DI-02964
AR TCS2.
DE A form of Treacher Collins syndrome, a disorder of craniofacial
DE development. Treacher Collins syndrome is characterized by a
DE combination of bilateral downward slanting of the palpebral fissures,
DE colobomas of the lower eyelids with a paucity of eyelashes medial to
DE the defect, hypoplasia of the facial bones, cleft palate, malformation
DE of the external ears, atresia of the external auditory canals, and
DE bilateral conductive hearing loss.
DR MIM; 613717; phenotype.
DR MedGen; C3150983.
DR MeSH; D008342.
//
ID Treacher Collins syndrome 3.
AC DI-02965
AR TCS3.
DE A form of Treacher Collins syndrome, a disorder of craniofacial
DE development. Treacher Collins syndrome is characterized by a
DE combination of bilateral downward slanting of the palpebral fissures,
DE colobomas of the lower eyelids with a paucity of eyelashes medial to
DE the defect, hypoplasia of the facial bones, cleft palate, malformation
DE of the external ears, atresia of the external auditory canals, and
DE bilateral conductive hearing loss.
SY Mandibulofacial dysostosis Treacher Collins type autosomal recessive.
DR MIM; 248390; phenotype.
DR MedGen; C1855433.
DR MeSH; D008342.
//
ID Treacher Collins syndrome 4.
AC DI-05871
AR TCS4.
DE A form of Treacher Collins syndrome, a disorder of craniofacial
DE development. Treacher Collins syndrome is characterized by a
DE combination of bilateral downward slanting of the palpebral fissures,
DE colobomas of the lower eyelids with a paucity of eyelashes medial to
DE the defect, hypoplasia of the facial bones, cleft palate, malformation
DE of the external ears, atresia of the external auditory canals, and
DE bilateral conductive hearing loss. TCS4 inheritance pattern is
DE autosomal dominant.
SY Treacher-Collins syndrome 4.
DR MIM; 618939; phenotype.
DR MedGen; CN283261.
DR MeSH; D008342.
//
ID Trehalase deficiency.
AC DI-05182
AR TREHD.
DE An autosomal recessive condition characterized by the inability to
DE digest trehalose, a disaccharide found in mushrooms, products
DE containing baker's yeast, and dried food. Individuals with trehalase
DE deficiency suffer from abdominal pain, increased rectal flatulence,
DE and diarrhea due to osmotic water flow into the colon.
SY Trehalose intolerance.
DR MIM; 612119; phenotype.
DR MedGen; C0268187.
DR MeSH; D030342.
//
ID Tremor, hereditary essential 1.
AC DI-02733
AR ETM1.
DE A common movement disorder mainly characterized by postural tremor of
DE the arms. Head, legs, trunk, voice, jaw, and facial muscles also may
DE be involved. The condition can be aggravated by emotions, hunger,
DE fatigue and temperature extremes, and may cause a functional
DE disability or even incapacitation. Inheritance is autosomal dominant.
DR MIM; 190300; phenotype.
DR MedGen; C1860861.
DR MeSH; D020329.
//
ID Tremor, hereditary essential 4.
AC DI-03518
AR ETM4.
DE A common movement disorder mainly characterized by postural tremor of
DE the arms. Head, legs, trunk, voice, jaw, and facial muscles also may
DE be involved. The condition can be aggravated by emotions, hunger,
DE fatigue and temperature extremes, and may cause a functional
DE disability or even incapacitation. Inheritance is autosomal dominant.
DR MIM; 614782; phenotype.
DR MedGen; C3539195.
DR MedGen; CN143717.
DR MeSH; D020329.
//
ID Tremor, hereditary essential 5.
AC DI-04630
AR ETM5.
DE A common movement disorder mainly characterized by postural tremor of
DE the arms. Head, legs, trunk, voice, jaw, and facial muscles also may
DE be involved. The condition can be aggravated by emotions, hunger,
DE fatigue and temperature extremes, and may cause a functional
DE disability or even incapacitation. Inheritance is autosomal dominant.
DR MIM; 616736; phenotype.
DR MedGen; CN234874.
DR MeSH; D020329.
//
ID Tremor, hereditary essential 6.
AC DI-05828
AR ETM6.
DE A form of essential tremor, a common movement disorder mainly
DE characterized by postural tremor of the arms. Head, legs, trunk,
DE voice, jaw, and facial muscles also may be involved. The condition can
DE be aggravated by emotions, hunger, fatigue and temperature extremes,
DE and may cause a functional disability or even incapacitation. ETM6
DE inheritance is autosomal dominant.
DR MIM; 618866; phenotype.
DR MedGen; CN280880.
DR MeSH; D020329.
//
ID Tricho-rhino-phalangeal syndrome 1.
AC DI-02385
AR TRPS1.
DE Autosomal dominant disorder characterized by craniofacial and skeletal
DE abnormalities. It is allelic with tricho-rhino-phalangeal type 3.
DE Typical features include sparse scalp hair, a bulbous tip of the nose,
DE protruding ears, a long flat philtrum and a thin upper vermilion
DE border. Skeletal defects include cone-shaped epiphyses at the
DE phalanges, hip malformations and short stature.
SY Trichorhinophalangeal syndrome type I.
DR MIM; 190350; phenotype.
DR MedGen; C0432233.
//
ID Tricho-rhino-phalangeal syndrome 2.
AC DI-02005
AR TRPS2.
DE A syndrome that combines the clinical features of tricho-rhino-
DE phalangeal syndrome type 1 and multiple exostoses type 1. Affected
DE individuals manifest multiple dysmorphic facial features including
DE large, laterally protruding ears, a bulbous nose, an elongated upper
DE lip, as well as sparse scalp hair, winged scapulae, multiple
DE cartilaginous exostoses, redundant skin, and intellectual disability.
DR MIM; 150230; phenotype.
DR MedGen; C0023003.
//
ID Tricho-rhino-phalangeal syndrome 3.
AC DI-02386
AR TRPS3.
DE Autosomal dominant disorder characterized by craniofacial and skeletal
DE abnormalities. It is allelic with tricho-rhino-phalangeal type 1. In
DE TRPS3 a more severe brachydactyly and growth retardation are observed.
SY Trichorhinophalangeal syndrome type III.
DR MIM; 190351; phenotype.
DR MedGen; C1860823.
//
ID Trichodentoosseous syndrome.
AC DI-02387
AR TDO.
DE An autosomal dominant disease characterized by curly kinky hair at
DE birth, enamel hypoplasia, taurodontism, thickening of cortical bones
DE and variable expression of craniofacial morphology.
SY TDO syndrome.
DR MIM; 190320; phenotype.
DR MedGen; C0265333.
DR MeSH; D006201.
DR MeSH; D014071.
DR MeSH; D019465.
//
ID Trichohepatoenteric syndrome 1.
AC DI-03421
AR THES1.
DE A syndrome characterized by intrauterine growth retardation, severe
DE diarrhea in infancy requiring total parenteral nutrition, facial
DE dysmorphism, immunodeficiency, and hair abnormalities, mostly
DE trichorrhexis nodosa. Hepatic involvement contributes to the poor
DE prognosis of affected patients.
SY Fatal infantile diarrhea with trichorrhexis nodosa.
SY Intractable diarrhea with phenotypic anomalies.
SY Phenotypic diarrhea of infancy.
SY Syndromic diarrhea.
SY THE syndrome.
DR MIM; 222470; phenotype.
DR MedGen; C1857276.
DR MeSH; D003968.
//
ID Trichohepatoenteric syndrome 2.
AC DI-03422
AR THES2.
DE A syndrome characterized by intrauterine growth retardation, severe
DE diarrhea in infancy requiring total parenteral nutrition, facial
DE dysmorphism, immunodeficiency, and hair abnormalities, mostly
DE trichorrhexis nodosa. Hepatic involvement contributes to the poor
DE prognosis of affected patients.
DR MIM; 614602; phenotype.
DR MedGen; C3281289.
DR MeSH; D003968.
//
ID Trichohepatoneurodevelopmental syndrome.
AC DI-05454
AR THNS.
DE An autosomal recessive complex multisystem disorder characterized by
DE woolly or coarse hair, liver dysfunction, pruritus, dysmorphic
DE features, hypotonia, and global developmental delay.
DR MIM; 618268; phenotype.
DR MedGen; CN257945.
DR MeSH; D000015.
//
ID Trichomegaly.
AC DI-04213
AR TCMGLY.
DE A morphologic trait characterized by unusually long eyelashes and mild
DE hypertrichosis of eyebrows. It can be observed in association with
DE corneal irritation, cataracts, and hereditary spherocytosis.
SY Goldstein Hutt syndrome.
SY Long eyelashes.
SY Movie lashes.
DR MIM; 190330; phenotype.
DR MedGen; C0854699.
DR MeSH; D005128.
//
ID Trichothiodystrophy 1, photosensitive.
AC DI-01104
AR TTD1.
DE A form of trichothiodystrophy, an autosomal recessive disease
DE characterized by sulfur-deficient brittle hair and multisystem
DE variable abnormalities. The spectrum of clinical features varies from
DE mild disease with only hair involvement to severe disease with
DE cutaneous, neurologic and profound developmental defects. Ichthyosis,
DE intellectual and developmental disabilities, decreased fertility,
DE abnormal characteristics at birth, ocular abnormalities, short
DE stature, and infections are common manifestations. There are both
DE photosensitive and non-photosensitive forms of the disorder. TTD1
DE patients manifest cutaneous photosensitivity.
SY IBIDS syndrome.
SY Ichthyosiform erythroderma with hair abnormality and mental and growth retardation.
SY Ichthyosis, congenital, with trichothiodystrophy.
SY Ichthyosis with brittle hair, intellectual impairment, decreased fertility and short stature.
SY PIBIDS syndrome.
SY Tay syndrome.
SY Trichothiodystrophy photosensitive.
SY Trichothiodystrophy with congenital ichthyosis.
SY TTDP.
DR MIM; 601675; phenotype.
DR MedGen; C0432267.
DR MedGen; C1866504.
DR MedGen; C1866505.
DR MeSH; D054463.
KW KW-0977:Ichthyosis.
//
ID Trichothiodystrophy 2, photosensitive.
AC DI-04433
AR TTD2.
DE A form of trichothiodystrophy, an autosomal recessive disease
DE characterized by sulfur-deficient brittle hair and multisystem
DE variable abnormalities. The spectrum of clinical features varies from
DE mild disease with only hair involvement to severe disease with
DE cutaneous, neurologic and profound developmental defects. Ichthyosis,
DE intellectual and developmental disabilities, decreased fertility,
DE abnormal characteristics at birth, ocular abnormalities, short
DE stature, and infections are common manifestations. There are both
DE photosensitive and non-photosensitive forms of the disorder.
DR MIM; 616390; phenotype.
DR MedGen; CN230761.
DR MeSH; D054463.
//
ID Trichothiodystrophy 3, photosensitive.
AC DI-04434
AR TTD3.
DE A form of trichothiodystrophy, an autosomal recessive disease
DE characterized by sulfur-deficient brittle hair and multisystem
DE variable abnormalities. The spectrum of clinical features varies from
DE mild disease with only hair involvement to severe disease with
DE cutaneous, neurologic and profound developmental defects. Ichthyosis,
DE intellectual and developmental disabilities, decreased fertility,
DE abnormal characteristics at birth, ocular abnormalities, short
DE stature, and infections are common manifestations. There are both
DE photosensitive and non-photosensitive forms of the disorder.
SY Trichothiodystrophy, complementation group A.
SY TTDA.
DR MIM; 616395; phenotype.
DR MedGen; CN230763.
DR MeSH; D054463.
//
ID Trichothiodystrophy 4, non-photosensitive.
AC DI-01105
AR TTD4.
DE A form of trichothiodystrophy, an autosomal recessive disease
DE characterized by sulfur-deficient brittle hair and multisystem
DE variable abnormalities. The spectrum of clinical features varies from
DE mild disease with only hair involvement to severe disease with
DE cutaneous, neurologic and profound developmental defects. Ichthyosis,
DE intellectual and developmental disabilities, decreased fertility,
DE abnormal characteristics at birth, ocular abnormalities, short
DE stature, and infections are common manifestations. There are both
DE photosensitive and non-photosensitive forms of the disorder. TTD4
DE patients do not manifest cutaneous photosensitivity.
SY ABHS.
SY Amish brittle hair brain syndrome.
SY BIDS syndrome.
SY Hair-brain syndrome.
SY Pollitt syndrome.
SY Trichorrhexis nodosa syndrome.
SY Trichothiodystrophy, nonphotosensitive 1.
SY Trichothiodystrophy-neurocutaneous syndrome.
SY Trichothiodystrophy non-photosensitive 1.
SY TTDN1.
DR MIM; 234050; phenotype.
DR MedGen; C0740342.
DR MedGen; C1961117.
DR MedGen; C3495483.
DR MeSH; D054463.
//
ID Trichothiodystrophy 5, non-photosensitive.
AC DI-04442
AR TTD5.
DE An X-linked form of trichothiodystrophy, a disease characterized by
DE sulfur-deficient brittle hair and multisystem variable abnormalities.
DE The spectrum of clinical features varies from mild disease with only
DE hair involvement to severe disease with cutaneous, neurologic and
DE profound developmental defects. Ichthyosis, intellectual and
DE developmental disabilities, decreased fertility, abnormal
DE characteristics at birth, ocular abnormalities, short stature, and
DE infections are common manifestations. There are both photosensitive
DE and non-photosensitive forms of the disorder. TTD5 features include
DE microcephaly, profound intellectual disability, sparse brittle hair,
DE aged appearance, short stature, facial dysmorphism, seizures, an
DE immunoglobulin deficiency, multiple endocrine abnormalities,
DE cerebellar hypoplasia and partial absence of the corpus callosum, in
DE the absence of cellular photosensitivity and ichthyosis.
DR MIM; 300953; phenotype.
DR MedGen; CN231313.
DR MeSH; D054463.
//
ID Trichothiodystrophy 6, non-photosensitive.
AC DI-04720
AR TTD6.
DE A form of trichothiodystrophy, a disease characterized by sulfur-
DE deficient brittle hair and multisystem variable abnormalities. The
DE spectrum of clinical features varies from mild disease with only hair
DE involvement to severe disease with cutaneous, neurologic and profound
DE developmental defects. Ichthyosis, intellectual and developmental
DE disabilities, decreased fertility, abnormal characteristics at birth,
DE ocular abnormalities, short stature, and infections are common
DE manifestations. There are both photosensitive and non-photosensitive
DE forms of the disorder. TTD6 patients do not manifest cutaneous
DE photosensitivity. Inheritance pattern has been reported to be
DE autosomal recessive.
DR MIM; 616943; phenotype.
DR MedGen; CN236419.
DR MeSH; D054463.
//
ID Trichothiodystrophy 7, non-photosensitive.
AC DI-05638
AR TTD7.
DE A form of trichothiodystrophy, a disease characterized by sulfur-
DE deficient brittle hair and multisystem variable abnormalities. The
DE spectrum of clinical features varies from mild disease with only hair
DE involvement to severe disease with cutaneous, neurologic and profound
DE developmental defects. Ichthyosis, intellectual and developmental
DE disabilities, decreased fertility, abnormal characteristics at birth,
DE ocular abnormalities, short stature, and infections are common
DE manifestations. There are both photosensitive and non-photosensitive
DE forms of the disorder. TTD7 patients do not manifest cutaneous
DE photosensitivity. They have cysteine- and threonine-deficient hair
DE with alternating light and dark 'tiger-tail' banding pattern observed
DE under polarization microscopy. Inheritance pattern is autosomal
DE recessive.
DR MIM; 618546; phenotype.
DR MedGen; CN262195.
DR MeSH; D054463.
//
ID Trichothiodystrophy 8, non-photosensitive.
AC DI-06299
AR TTD8.
DE A form of trichothiodystrophy, a disease characterized by sulfur-
DE deficient brittle hair and multisystem variable abnormalities. The
DE spectrum of clinical features varies from mild disease with only hair
DE involvement to severe disease with cutaneous, neurologic and profound
DE developmental defects. Ichthyosis, intellectual and developmental
DE disabilities, decreased fertility, abnormal characteristics at birth,
DE ocular abnormalities, short stature, and infections are common
DE manifestations. There are both photosensitive and non-photosensitive
DE forms of the disorder. TTD8 is an autosomal recessive, non-
DE photosensitive form characterized by brittle hair and nails, scaly
DE skin, accompanied by failure to thrive, microcephaly, and neuromotor
DE developmental delay.
SY Trichothiodystrophy 8, nonphotosensitive.
DR MIM; 619691; phenotype.
DR MedGen; CN305738.
DR MeSH; D054463.
//
ID Trichothiodystrophy 9, non-photosensitive.
AC DI-06300
AR TTD9.
DE A form of trichothiodystrophy, a disease characterized by sulfur-
DE deficient brittle hair and multisystem variable abnormalities. The
DE spectrum of clinical features varies from mild disease with only hair
DE involvement to severe disease with cutaneous, neurologic and profound
DE developmental defects. Ichthyosis, intellectual and developmental
DE disabilities, decreased fertility, abnormal characteristics at birth,
DE ocular abnormalities, short stature, and infections are common
DE manifestations. There are both photosensitive and non-photosensitive
DE forms of the disorder. TTD9 is an autosomal recessive, non-
DE photosensitive form characterized by brittle hair and nails, scaly
DE skin, accompanied by failure to thrive, microcephaly, and neuromotor
DE developmental delay.
DR MIM; 619692; phenotype.
DR MedGen; CN305739.
DR MeSH; D054463.
//
ID Trichotillomania.
AC DI-02830
AR TTM.
DE A neuropsychiatric disorder characterized by chronic, repetitive, or
DE compulsive hair pulling resulting in noticeable hair loss. Affected
DE individuals may develop physical complications and often have
DE overlapping psychological disorders, such as Gilles de la Tourette
DE syndrome or obsessive-compulsive disorder.
DR MIM; 613229; phenotype.
DR MedGen; C0040953.
DR MedGen; CN035643.
DR MeSH; D014256.
//
ID Trigonocephaly 1.
AC DI-02068
AR TRIGNO1.
DE A keel-shaped deformation of the forehead, caused by premature fusion
DE of the metopic sutures. It results in a triangular shape of the head.
SY Metopic craniosynostosis.
DR MIM; 190440; phenotype.
DR MedGen; C0432122.
DR MeSH; D003398.
KW KW-0989:Craniosynostosis.
//
ID Trigonocephaly 2.
AC DI-03386
AR TRIGNO2.
DE A keel-shaped deformation of the forehead, caused by premature fusion
DE of the metopic sutures. It results in a triangular shape of the head.
SY Metopic craniosynostosis.
DR MIM; 614485; phenotype.
DR MedGen; C3280974.
DR MeSH; D003398.
KW KW-0989:Craniosynostosis.
//
ID Trimethylaminuria.
AC DI-02389
AR TMAU.
DE Inborn error of metabolism associated with an offensive body odor and
DE caused by deficiency of FMO-mediated N-oxidation of amino-
DE trimethylamine (TMA) derived from foodstuffs. Affected individuals
DE excrete relatively large amounts of TMA in their urine, sweat, and
DE breath, and exhibit a fishy body odor characteristic of the malodorous
DE free amine.
SY Fish-odor syndrome.
SY MeSH; D008661.
DR MIM; 602079; phenotype.
DR MedGen; C0342739.
//
ID Triokinase and FMN cyclase deficiency syndrome.
AC DI-05786
AR TKFCD.
DE An autosomal recessive disease characterized by cataracts and
DE developmental delay that may be associated with cerebellar hypoplasia.
DE Additional features may include liver dysfunction, microcytic anemia,
DE and fatal cardiomyopathy with lactic acidosis following a febrile
DE illness.
DR MIM; 618805; phenotype.
DR MedGen; CN263353.
DR MeSH; D000015.
KW KW-0898:Cataract.
//
ID Triosephosphate isomerase deficiency.
AC DI-02390
AR TPID.
DE An autosomal recessive multisystem disorder characterized by
DE congenital hemolytic anemia, progressive neuromuscular dysfunction,
DE susceptibility to bacterial infection, and cardiomyopathy.
SY Hemolytic anemia due to triosephosphate isomerase deficiency.
DR MIM; 615512; phenotype.
DR MedGen; C1860808.
DR MeSH; D000745.
DR MeSH; D008661.
KW KW-0360:Hereditary hemolytic anemia.
//
ID Triphalangeal thumb-polysyndactyly syndrome.
AC DI-02391
AR TPTPS.
DE Autosomal dominant syndrome. It is characterized by a wide spectrum of
DE pre- and post-axial abnormalities due to altered SHH expression
DE pattern during limb development.
DR MIM; 174500; phenotype.
DR MedGen; C0241397.
//
ID Tritan color blindness.
AC DI-02393
AR CBT.
DE A disorder of vision characterized by a selective deficiency of blue
DE spectral sensitivity.
SY Blue colorblindness.
SY Tritanopia.
DR MIM; 190900; phenotype.
DR MedGen; C0155017.
DR MeSH; D003117.
//
ID Tropical calcific pancreatitis.
AC DI-02394
AR TCP.
DE Idiopathic, juvenile, nonalcoholic form of chronic pancreatitis widely
DE prevalent in several tropical countries. It can be associated with
DE fibrocalculous pancreatic diabetes (FCPD) depending on both
DE environmental and genetic factors. TCP differs from alcoholic
DE pancreatitis by a much younger age of onset, pancreatic calcification,
DE a high incidence of insulin dependent but ketosis resistant diabetes
DE mellitus, and an exceptionally high incidence of pancreatic cancer.
DR MIM; 608189; phenotype.
DR MedGen; C1842402.
//
ID Tuberous sclerosis 1.
AC DI-01106
AR TSC1.
DE An autosomal dominant multi-system disorder that affects especially
DE the brain, kidneys, heart, and skin. It is characterized by hamartomas
DE (benign overgrowths predominantly of a cell or tissue type that occurs
DE normally in the organ) and hamartias (developmental abnormalities of
DE tissue combination). Clinical manifestations include epilepsy,
DE learning difficulties, behavioral problems, and skin lesions. Seizures
DE can be intractable and premature death can occur from a variety of
DE disease-associated causes.
SY Bourneville syndrome.
SY TS.
SY Tuberous sclerosis.
SY Tuberous sclerosis complex.
DR MIM; 191100; phenotype.
DR MedGen; C0041341.
DR MedGen; C1854465.
DR MeSH; D014402.
//
ID Tuberous sclerosis 2.
AC DI-02846
AR TSC2.
DE An autosomal dominant multi-system disorder that affects especially
DE the brain, kidneys, heart, and skin. It is characterized by hamartomas
DE (benign overgrowths predominantly of a cell or tissue type that occurs
DE normally in the organ) and hamartias (developmental abnormalities of
DE tissue combination). Clinical manifestations include epilepsy,
DE learning difficulties, behavioral problems, and skin lesions. Seizures
DE can be intractable and premature death can occur from a variety of
DE disease-associated causes.
SY TS.
SY Tuberous sclerosis.
SY Tuberous sclerosis complex.
DR MIM; 613254; phenotype.
DR MedGen; C1860707.
DR MedGen; C2750460.
DR MeSH; D014402.
//
ID Tubulointerstitial kidney disease, autosomal dominant, 1.
AC DI-00493
AR ADTKD1.
DE A form of autosomal dominant tubulointerstitial kidney disease, a
DE genetically heterogeneous disorder characterized by slowly progressive
DE loss of kidney function, bland urinary sediment, hyperuricemia, absent
DE or mildly increased albuminuria, lack of severe hypertension during
DE the early stages, and normal or small kidneys on ultrasound. Renal
DE histology shows variable abnormalities including interstitial fibrosis
DE with tubular atrophy, microcystic dilatation of the tubules,
DE thickening of tubular basement membranes, medullary cysts, and
DE secondary glomerulosclerotic or glomerulocystic changes with abnormal
DE glomerular tufting. There is significant variability, as well as
DE incomplete penetrance.
SY Familial juvenile hyperuricemic nephropathy 1.
SY FJHN.
SY FJHN1.
SY Glomerulocystic kidney disease with hyperuricemia and isosthenuria.
SY Gouty nephropathy familial juvenile.
SY HNFJ1.
SY MCKD2.
SY Medullary cystic kidney disease 2.
SY Nephropathy familial with gout.
DR MIM; 162000; phenotype.
DR MedGen; C0268113.
DR MeSH; D007674.
//
ID Tubulointerstitial kidney disease, autosomal dominant, 2.
AC DI-03826
AR ADTKD2.
DE A form of autosomal dominant tubulointerstitial kidney disease, a
DE genetically heterogeneous disorder characterized by slowly progressive
DE loss of kidney function, bland urinary sediment, hyperuricemia, absent
DE or mildly increased albuminuria, lack of severe hypertension during
DE the early stages, and normal or small kidneys on ultrasound. Renal
DE histology shows variable abnormalities including interstitial fibrosis
DE with tubular atrophy, microcystic dilatation of the tubules,
DE thickening of tubular basement membranes, medullary cysts, and
DE secondary glomerulosclerotic or glomerulocystic changes with abnormal
DE glomerular tufting. There is significant variability, as well as
DE incomplete penetrance.
SY ADMCKD1.
SY Autosomal dominant medullary cystic kidney disease 1.
SY MCKD.
SY MCKD1.
SY Medullary cystic kidney disease 1.
SY Medullary polycystic kidneys.
DR MIM; 174000; phenotype.
DR MedGen; C1868139.
DR MeSH; D052177.
//
ID Tubulointerstitial kidney disease, autosomal dominant, 4.
AC DI-02783
AR ADTKD4.
DE A form of autosomal dominant tubulointerstitial kidney disease, a
DE genetically heterogeneous disorder characterized by slowly progressive
DE loss of kidney function, bland urinary sediment, hyperuricemia, absent
DE or mildly increased albuminuria, lack of severe hypertension during
DE the early stages, and normal or small kidneys on ultrasound. Renal
DE histology shows variable abnormalities including interstitial fibrosis
DE with tubular atrophy, microcystic dilatation of the tubules,
DE thickening of tubular basement membranes, medullary cysts, and
DE secondary glomerulosclerotic or glomerulocystic changes with abnormal
DE glomerular tufting. There is significant variability, as well as
DE incomplete penetrance.
SY Early-onset hyperuricemia anemia and progressive kidney failure.
SY Familial juvenile hyperuricemic nephropathy 2.
SY HNFJ2.
DR MIM; 613092; phenotype.
DR MedGen; C2751310.
DR MeSH; D007674.
//
ID Tubulointerstitial kidney disease, autosomal dominant, 5.
AC DI-04780
AR ADTKD5.
DE A form of autosomal dominant tubulointerstitial kidney disease, a
DE genetically heterogeneous disorder characterized by slowly progressive
DE loss of kidney function, bland urinary sediment, hyperuricemia, absent
DE or mildly increased albuminuria, lack of severe hypertension during
DE the early stages, and normal or small kidneys on ultrasound. Renal
DE histology shows variable abnormalities including interstitial fibrosis
DE with tubular atrophy, microcystic dilatation of the tubules,
DE thickening of tubular basement membranes, medullary cysts, and
DE secondary glomerulosclerotic or glomerulocystic changes with abnormal
DE glomerular tufting. There is significant variability, as well as
DE incomplete penetrance.
SY Familial juvenile hyperuricemic nephropathy 4.
SY HNFJ4.
SY Hyperuricemic nephropathy, familial juvenile, 4.
DR MIM; 617056; phenotype.
DR MedGen; CN237813.
DR MeSH; D007674.
//
ID Tumor predisposition syndrome.
AC DI-03304
AR TPDS.
DE A condition characterized by predisposition to develop a variety of
DE tumors, including benign melanocytic tumors as well as several
DE malignant tumors, including uveal melanoma, cutaneous melanoma,
DE malignant mesothelioma on exposure to asbestos, lung adenocarcinoma
DE and meningioma.
DR MIM; 614327; phenotype.
DR MedGen; C3280492.
DR MeSH; D009386.
//
ID Tumoral calcinosis, hyperphosphatemic, familial, 1.
AC DI-00573
AR HFTC1.
DE A form of hyperphosphatemic tumoral calcinosis, a rare autosomal
DE recessive metabolic disorder that manifests with hyperphosphatemia and
DE massive calcium deposits in the skin and subcutaneous tissues. Some
DE patients have recurrent, transient, painful swellings of the long
DE bones associated with the radiographic findings of periosteal reaction
DE and cortical hyperostosis and absence of skin involvement.
SY Cortical hyperostosis with hyperphosphatemia.
SY Familial tumoral calcinosis with hyperphosphatemia.
SY HHS.
SY Hyperostosis-hyperphosphatemia syndrome.
SY Hyperostosis with hyperphosphatemia.
SY Lipocalcinogranulomatosis.
SY Morbus Teutschlaender.
SY PHPTC.
SY Teutschlaender disease.
SY Tumoral calcinosis primary hyperphosphatemic.
DR MIM; 211900; phenotype.
DR MedGen; C1876187.
DR MeSH; D002114.
DR MeSH; D015576.
DR MeSH; D054559.
//
ID Tumoral calcinosis, hyperphosphatemic, familial, 2.
AC DI-05253
AR HFTC2.
DE A form of hyperphosphatemic tumoral calcinosis, a rare autosomal
DE recessive metabolic disorder that manifests with hyperphosphatemia and
DE massive calcium deposits in the skin and subcutaneous tissues. Some
DE patients have recurrent, transient, painful swellings of the long
DE bones associated with the radiographic findings of periosteal reaction
DE and cortical hyperostosis and absence of skin involvement.
DR MIM; 617993; phenotype.
DR MedGen; CN248506.
DR MeSH; D002114.
DR MeSH; D015576.
DR MeSH; D054559.
//
ID Tumoral calcinosis, hyperphosphatemic, familial, 3.
AC DI-05254
AR HFTC3.
DE A form of hyperphosphatemic tumoral calcinosis, a rare autosomal
DE recessive metabolic disorder that manifests with hyperphosphatemia and
DE massive calcium deposits in the skin and subcutaneous tissues. Some
DE patients have recurrent, transient, painful swellings of the long
DE bones associated with the radiographic findings of periosteal reaction
DE and cortical hyperostosis and absence of skin involvement.
DR MIM; 617994; phenotype.
DR MedGen; CN248507.
DR MeSH; D002114.
DR MeSH; D015576.
DR MeSH; D054559.
//
ID Tumoral calcinosis, normophosphatemic, familial.
AC DI-02078
AR NFTC.
DE An uncommon, life-threatening disorder characterized by progressive
DE deposition of calcified masses in cutaneous and subcutaneous tissues.
DE Serum phosphate levels are normal. Clinical features include painful
DE calcified ulcerative lesions and massive calcium deposition in the
DE mid- and lower dermis, severe skin and bone infections, erythematous
DE papular skin eruption in infancy, conjunctivitis, and gingivitis. NFTC
DE shows a striking resemblance to acquired dystrophic calcinosis, in
DE which tissue calcification occurs as a consequence of tissue
DE injury/inflammation.
SY Tumoral calcinosis with normophosphatemia.
DR MIM; 610455; phenotype.
DR MedGen; C1864861.
DR MeSH; D002114.
//
ID Turnpenny-Fry syndrome.
AC DI-05516
AR TPFS.
DE A syndrome characterized by facial dysmorphism, intellectual
DE disability, feeding problems, impaired growth, and a range of brain,
DE cardiovascular, and skeletal abnormalities. Craniofacial features
DE include frontal bossing, sparse hair, malar hypoplasia, small
DE palpebral fissures and oral stoma, and dysplastic ears.
SY Neurocardioskeletal syndrome.
DR MIM; 618371; phenotype.
DR MedGen; CN258267.
DR MeSH; D000015.
KW KW-0991:Intellectual disability.
//
ID Tylosis with esophageal cancer.
AC DI-03431
AR TOC.
DE An autosomal dominant syndrome characterized by diffuse palmoplantar
DE keratoderma, oral leukokeratosis, and a high lifetime risk of
DE esophageal cancer.
SY Keratosis palmaris et plantaris with esophageal cancer.
DR MIM; 148500; phenotype.
DR MedGen; C1835664.
DR MeSH; D015776.
KW KW-1007:Palmoplantar keratoderma.
//
ID Type IIb congenital disorder of glycosylation.
AC DI-02399
AR CDGIIb.
DE Characterized by marked generalized hypotonia and hypomotility of the
DE neonate, dysmorphic features, including a prominent occiput, short
DE palpebral fissures, retrognathia, high arched palate, generalized
DE edema, and hypoplastic genitalia. Symptoms of the infant included
DE hepatomegaly, hypoventilation, feeding problems and seizures. The
DE clinical course was progressive and the infant did not survive more
DE than a few months.
SY Glucosidase I deficiency.
DR MIM; 606056; phenotype.
DR MedGen; C1853736.
//
ID Tyrosinemia 1.
AC DI-01107
AR TYRSN1.
DE An inborn error of metabolism characterized by elevations of tyrosine
DE in the blood and urine, and hepatorenal manifestations. Typical
DE features include hepatic necrosis, renal tubular injury, episodic
DE weakness, self-mutilation, and seizures. Renal tubular dysfunction is
DE associated with phosphate loss and hypophosphataemic rickets.
DE Progressive liver disease can lead to the development of
DE hepatocellular carcinoma. Dietary treatment with restriction of
DE tyrosine and phenylalanine alleviates the rickets, but liver
DE transplantation has so far been the only definite treatment.
SY FAH deficiency.
SY Fumarylacetoacetase deficiency.
SY Hepatorenal tyrosinemia.
SY Tyrosinemia type I.
DR MIM; 276700; phenotype.
DR MedGen; C0268490.
DR MeSH; D020176.
//
ID Tyrosinemia 2.
AC DI-01108
AR TYRSN2.
DE An inborn error of metabolism characterized by elevations of tyrosine
DE in the blood and urine, and oculocutaneous manifestations. Typical
DE features include palmoplantar keratosis, painful corneal ulcers, and
DE intellectual disability.
SY Keratosis palmoplantaris with corneal dystrophy.
SY Oculocutaneous tyrosinemia.
SY Richner-Hanhart syndrome.
SY TAT deficiency.
SY Tyrosine aminotransferase deficiency.
SY Tyrosinemia Oregon type.
SY Tyrosinemia type II.
SY Tyrosine transaminase deficiency.
SY Tyrosinosis oculocutaneous type.
DR MIM; 276600; phenotype.
DR MedGen; C0268487.
DR MeSH; D020176.
KW KW-0991:Intellectual disability.
KW KW-1007:Palmoplantar keratoderma.
//
ID Tyrosinemia 3.
AC DI-01109
AR TYRSN3.
DE An inborn error of metabolism characterized by elevations of tyrosine
DE in the blood and urine, seizures and mild intellectual disability.
SY 4-hydroxyphenylpyruvate dioxygenase deficiency.
SY 4-hydroxyphenylpyruvic acid oxidase deficiency.
SY Tyrosinemia type III.
DR MIM; 276710; phenotype.
DR MedGen; C0268623.
DR MeSH; D020176.
KW KW-0991:Intellectual disability.
//
ID Ubiquitin-positive frontotemporal dementia.
AC DI-02402
AR UP-FTD.
DE Frontotemporal dementia (FTD) is the second most common cause of
DE dementia in people under the age of 65 years. It is an autosomal
DE dominant neurodegenerative disease.
SY Tau-negative frontotemporal dementia linked to chromosome 17.
DR MIM; 607485; phenotype.
DR MedGen; C0282513.
DR MedGen; C1843792.
//
ID Ullrich congenital muscular dystrophy 1.
AC DI-01110
AR UCMD1.
DE A congenital myopathy characterized by muscle weakness and multiple
DE joint contractures, generally noted at birth or early infancy. The
DE clinical course is more severe than in Bethlem myopathy.
SY LGMDR22.
SY Muscular dystrophy, limb-girdle, autosomal recessive 22.
SY Scleroatonic muscular dystrophy.
SY UCMD.
SY Ullrich congenital muscular dystrophy.
SY Ullrich disease.
SY Ullrich scleroatonic muscular dystrophy.
DR MIM; 254090; phenotype.
DR MedGen; C0410179.
DR MeSH; D009136.
KW KW-0912:Congenital muscular dystrophy.
KW KW-0947:Limb-girdle muscular dystrophy.
//
ID Ullrich congenital muscular dystrophy 2.
AC DI-04486
AR UCMD2.
DE A form of Ullrich muscular dystrophy, a congenital myopathy
DE characterized by muscle weakness and multiple joint contractures,
DE generally noted at birth or early infancy. The clinical course is more
DE severe than in Bethlem myopathy.
DR MIM; 616470; phenotype.
DR MedGen; CN231482.
DR MeSH; D009136.
KW KW-0912:Congenital muscular dystrophy.
//
ID Ulnar-mammary syndrome.
AC DI-02404
AR UMS.
DE Characterized by ulnar ray defects, obesity, hypogenitalism, delayed
DE puberty, hypoplasia of nipples and apocrine glands.
DR MIM; 181450; phenotype.
DR MedGen; C1866994.
//
ID Uncombable hair syndrome 1.
AC DI-04895
AR UHS1.
DE A form of uncombable hair syndrome, a condition characterized by scalp
DE hair that is impossible to comb due to the haphazard arrangement of
DE the hair bundles. A characteristic morphologic feature is a triangular
DE to reniform to heart shape on cross-sections, and a groove, canal or
DE flattening along the entire length of the hair. Most individuals are
DE affected early in childhood and the hair takes on a spun-glass
DE appearance with the hair becoming dry, curly, glossy, lighter in
DE color, and progressively uncombable. The hair growth rate can range
DE from slow to normal, and the condition improves with age. UHS1
DE inheritance is autosomal dominant.
SY Chevelure en vadrouille.
SY Cheveux incoiffables.
SY Pili trianguli et canaliculi.
SY Spun glass hair.
SY UHS.
SY Uncombable hair syndrome.
SY Unmanageable hair syndrome.
DR MIM; 191480; phenotype.
DR MedGen; C0432347.
DR MeSH; D006201.
//
ID Uncombable hair syndrome 2.
AC DI-04896
AR UHS2.
DE A form of uncombable hair syndrome, a condition characterized by scalp
DE hair that is impossible to comb due to the haphazard arrangement of
DE the hair bundles. A characteristic morphologic feature is a triangular
DE to reniform to heart shape on cross-sections, and a groove, canal or
DE flattening along the entire length of the hair. Most individuals are
DE affected early in childhood and the hair takes on a spun-glass
DE appearance with the hair becoming dry, curly, glossy, lighter in
DE color, and progressively uncombable. The hair growth rate can range
DE from slow to normal, and the condition improves with age.
DR MIM; 617251; phenotype.
DR MedGen; CN239934.
DR MeSH; D006201.
//
ID Uncombable hair syndrome 3.
AC DI-04897
AR UHS3.
DE A form of uncombable hair syndrome, a condition characterized by scalp
DE hair that is impossible to comb due to the haphazard arrangement of
DE the hair bundles. A characteristic morphologic feature is a triangular
DE to reniform to heart shape on cross-sections, and a groove, canal or
DE flattening along the entire length of the hair. Most individuals are
DE affected early in childhood and the hair takes on a spun-glass
DE appearance with the hair becoming dry, curly, glossy, lighter in
DE color, and progressively uncombable. The hair growth rate can range
DE from slow to normal, and the condition improves with age.
DR MIM; 617252; phenotype.
DR MedGen; CN239938.
DR MeSH; D006201.
//
ID Unilateral palmoplantar verrucous nevus.
AC DI-01111
AR UPVN.
DE UPVN is characterized by a localized epidermolytic hyperkeratosis in
DE parts of the right palm and the right sole, following the lines of
DE Blaschko.
DR MIM; 144200; phenotype.
DR MeSH; D053546.
KW KW-1007:Palmoplantar keratoderma.
//
ID Urban-Rifkin-Davis syndrome.
AC DI-02872
AR URDS.
DE A syndrome characterized by disrupted pulmonary, gastrointestinal,
DE urinary, musculoskeletal, craniofacial and dermal development.
DE Clinical features include cutis laxa, mild cardiovascular lesions,
DE respiratory distress with cystic and atelectatic changes in the lungs,
DE and diverticulosis, tortuosity and stenosis at various levels of the
DE intestinal tract. Craniofacial features include microretrognathia,
DE flat midface, receding forehead and wide fontanelles.
SY Cutis laxa with severe pulmonary gastrointestinal and urinary abnormalities.
DR MIM; 613177; phenotype.
DR MedGen; C2750804.
DR MeSH; D003483.
//
ID Uric acid nephrolithiasis.
AC DI-02839
AR UAN.
DE A form of nephrolithiasis, a common multifactorial disease
DE characterized by stones formation in the kidney and urinary tract.
DE Nephrolithiasis is due to supersaturation of the urine by stone-
DE forming constituents, including calcium, oxalate and uric acid.
DE Crystals or foreign bodies can act as nidi, upon which ions from the
DE supersaturated urine form microscopic crystalline structures. Uric
DE acid nephrolithiasis occurs when the urine becomes overly concentrated
DE with uric acid and accounts for 20% of all stones.
SY Uric acid urolithiasis.
DR MIM; 605990; phenotype.
DR MedGen; C2700426.
DR MeSH; D053040.
//
ID Uridine-cytidineuria.
AC DI-05596
AR URCTU.
DE An autosomal recessive inborn error of metabolism characterized by
DE increased urinary uridine and cytidine excretion. It is a likely
DE benign metabolic trait without clinical manifestations.
DR MIM; 618477; phenotype.
DR MedGen; CN260064.
DR MeSH; D011686.
//
ID Urocanase deficiency.
AC DI-02405
AR UROCD.
DE An inborn error of histidine metabolism resulting in urocanic aciduria
DE and neurological manifestations including intellectual disability,
DE ataxia, episodic aggressive behavior or exaggerated affection-seeking.
SY Encephalopathy due to urocanase deficiency.
DR MIM; 276880; phenotype.
DR MedGen; C0268514.
DR MeSH; D000592.
//
ID Urofacial syndrome 1.
AC DI-02762
AR UFS1.
DE A rare autosomal recessive disorder characterized by facial grimacing
DE when attempting to smile and failure of the urinary bladder to void
DE completely despite a lack of anatomical bladder outflow obstruction or
DE overt neurological damage. Affected individuals often have reflux of
DE infected urine from the bladder to the upper renal tract, with a risk
DE of kidney damage and renal failure.
SY Hydronephrosis with peculiar facial expression.
SY Inverted smile and occult neuropathic bladder.
SY Ochoa syndrome.
SY Partial facial palsy partial with urinary abnormalities.
SY UFS.
SY Urofacial syndrome.
DR MIM; 236730; phenotype.
DR MedGen; C0403555.
DR MeSH; D014570.
DR MeSH; D019066.
//
ID Urofacial syndrome 2.
AC DI-03706
AR UFS2.
DE A rare autosomal recessive disorder characterized by facial grimacing
DE when attempting to smile and failure of the urinary bladder to void
DE completely despite a lack of anatomical bladder outflow obstruction or
DE overt neurological damage. Affected individuals often have reflux of
DE infected urine from the bladder to the upper renal tract, with a risk
DE of kidney damage and renal failure.
DR MIM; 615112; phenotype.
DR MedGen; C3554520.
DR MedGen; CN168069.
DR MeSH; D014570.
DR MeSH; D019066.
//
ID Uruguay faciocardiomusculoskeletal syndrome.
AC DI-05127
AR FCMSU.
DE An X-linked recessive syndrome characterized by brachyturricephaly,
DE pugilistic coarse facies, a muffled voice, cardiomyopathy, muscular
DE hypertrophy, broad hands, wide feet with progressive pes cavus
DE deformities, dislocation of toes, variable congenital hip dislocation,
DE and scoliosis.
SY Faciocardiomusculoskeletal syndrome, Uruguay type.
SY FCMS.
DR MIM; 300280; phenotype.
DR MedGen; C1846010.
DR MeSH; D009140.
DR MeSH; D009202.
//
ID Usher syndrome 1B.
AC DI-01112
AR USH1B.
DE USH is a genetically heterogeneous condition characterized by the
DE association of retinitis pigmentosa with sensorineural deafness. Age
DE at onset and differences in auditory and vestibular function
DE distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2)
DE and Usher syndrome type 3 (USH3). USH1 is characterized by profound
DE congenital sensorineural deafness, absent vestibular function and
DE prepubertal onset of progressive retinitis pigmentosa leading to
DE blindness.
SY Usher's syndrome type 1B.
SY Usher syndrome type Ib.
SY Usher syndrome type IB.
SY USHIb.
DR MIM; 276900; phenotype.
DR MedGen; C1568247.
DR MedGen; C1848638.
DR MedGen; C1848639.
DR MedGen; C1848640.
DR MeSH; D052245.
KW KW-0682:Retinitis pigmentosa.
KW KW-0836:Usher syndrome.
//
ID Usher syndrome 1C.
AC DI-01113
AR USH1C.
DE USH is a genetically heterogeneous condition characterized by the
DE association of retinitis pigmentosa with sensorineural deafness. Age
DE at onset and differences in auditory and vestibular function
DE distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2)
DE and Usher syndrome type 3 (USH3). USH1 is characterized by profound
DE congenital sensorineural deafness, absent vestibular function and
DE prepubertal onset of progressive retinitis pigmentosa leading to
DE blindness.
SY Acadian Usher syndrome.
SY Usher's syndrome type 1C.
SY Usher syndrome type I Acadian variety.
SY Usher syndrome type IC.
DR MIM; 276904; phenotype.
DR MedGen; C1848604.
DR MeSH; D052245.
KW KW-0682:Retinitis pigmentosa.
KW KW-0836:Usher syndrome.
//
ID Usher syndrome 1D.
AC DI-01114
AR USH1D.
DE USH is a genetically heterogeneous condition characterized by the
DE association of retinitis pigmentosa with sensorineural deafness. Age
DE at onset and differences in auditory and vestibular function
DE distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2)
DE and Usher syndrome type 3 (USH3). USH1 is characterized by profound
DE congenital sensorineural deafness, absent vestibular function and
DE prepubertal onset of progressive retinitis pigmentosa leading to
DE blindness.
SY Usher's syndrome type 1D.
SY Usher syndrome type ID.
DR MIM; 601067; phenotype.
DR MedGen; C1832845.
DR MeSH; D052245.
KW KW-0682:Retinitis pigmentosa.
KW KW-0836:Usher syndrome.
//
ID Usher syndrome 1D/F.
AC DI-01115
AR USH1DF.
DE USH1DF patients are heterozygous for mutations in CDH23 and PCDH15,
DE indicating a digenic inheritance pattern.
SY USH1D/F.
SY Usher's syndrome type 1H.
SY Usher syndrome 1H.
SY Usher syndrome type IH.
DR MIM; 601067; phenotype.
DR MedGen; C3152102.
DR MedGen; C3275872.
DR MeSH; D052245.
KW KW-0682:Retinitis pigmentosa.
KW KW-0836:Usher syndrome.
//
ID Usher syndrome 1F.
AC DI-01116
AR USH1F.
DE USH is a genetically heterogeneous condition characterized by the
DE association of retinitis pigmentosa with sensorineural deafness. Age
DE at onset and differences in auditory and vestibular function
DE distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2)
DE and Usher syndrome type 3 (USH3). USH1 is characterized by profound
DE congenital sensorineural deafness, absent vestibular function and
DE prepubertal onset of progressive retinitis pigmentosa leading to
DE blindness.
SY Usher's syndrome type 1F.
SY Usher syndrome type IF.
DR MIM; 602083; phenotype.
DR MedGen; C1865885.
DR MeSH; D052245.
KW KW-0682:Retinitis pigmentosa.
KW KW-0836:Usher syndrome.
//
ID Usher syndrome 1G.
AC DI-01117
AR USH1G.
DE USH is a genetically heterogeneous condition characterized by the
DE association of retinitis pigmentosa with sensorineural deafness. Age
DE at onset and differences in auditory and vestibular function
DE distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2)
DE and Usher syndrome type 3 (USH3). USH1 is characterized by profound
DE congenital sensorineural deafness, absent vestibular function and
DE prepubertal onset of progressive retinitis pigmentosa leading to
DE blindness.
SY Usher's syndrome type 1G.
SY Usher syndrome type IG.
DR MIM; 606943; phenotype.
DR MedGen; C1847089.
DR MeSH; D052245.
KW KW-0682:Retinitis pigmentosa.
KW KW-0836:Usher syndrome.
//
ID Usher syndrome 1J.
AC DI-03552
AR USH1J.
DE USH is a genetically heterogeneous condition characterized by the
DE association of retinitis pigmentosa with sensorineural deafness. Age
DE at onset and differences in auditory and vestibular function
DE distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2)
DE and Usher syndrome type 3 (USH3). USH1 is characterized by profound
DE congenital sensorineural deafness, absent vestibular function and
DE prepubertal onset of progressive retinitis pigmentosa leading to
DE blindness.
SY Usher's syndrome type 1J.
SY Usher syndrome type IJ.
DR MIM; 614869; phenotype.
DR MedGen; C3553944.
DR MedGen; CN158799.
DR MeSH; D052245.
KW KW-0682:Retinitis pigmentosa.
KW KW-0836:Usher syndrome.
//
ID Usher syndrome 1M.
AC DI-05680
AR USH1M.
DE A form of Usher syndrome, a genetically heterogeneous condition
DE characterized by the association of retinitis pigmentosa with
DE sensorineural deafness. Age at onset and differences in auditory and
DE vestibular function distinguish Usher syndrome type 1 (USH1), Usher
DE syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1M is an
DE autosomal recessive disease characterized by prelingual sensorineural
DE hearing loss, vestibular dysfunction, night blindness, and progressive
DE impairment of vision.
DR MIM; 618632; phenotype.
DR MedGen; CN262443.
DR MeSH; D052245.
KW KW-0682:Retinitis pigmentosa.
KW KW-0836:Usher syndrome.
//
ID Usher syndrome 2A.
AC DI-01118
AR USH2A.
DE USH is a genetically heterogeneous condition characterized by the
DE association of retinitis pigmentosa with sensorineural deafness. Age
DE at onset and differences in auditory and vestibular function
DE distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2)
DE and Usher syndrome type 3 (USH3). USH2 is characterized by congenital
DE mild hearing impairment with normal vestibular responses.
SY Usher's syndrome type 2A.
SY Usher syndrome type IIa.
SY Usher syndrome type IIA.
SY USHIIa.
DR MIM; 276901; phenotype.
DR MedGen; C1848634.
DR MeSH; D052245.
KW KW-0682:Retinitis pigmentosa.
KW KW-0836:Usher syndrome.
//
ID Usher syndrome 2C.
AC DI-01119
AR USH2C.
DE USH is a genetically heterogeneous condition characterized by the
DE association of retinitis pigmentosa with sensorineural deafness. Age
DE at onset and differences in auditory and vestibular function
DE distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2)
DE and Usher syndrome type 3 (USH3). USH2 is characterized by congenital
DE mild hearing impairment with normal vestibular responses.
SY Usher's syndrome type 2C.
SY Usher syndrome type IIC.
SY Usher syndrome type IIC GPR98/PDZD7 digenic.
DR MIM; 605472; phenotype.
DR MedGen; C1854237.
DR MedGen; C2676439.
DR MedGen; C2931213.
DR MedGen; C3148929.
DR MeSH; D052245.
KW KW-0682:Retinitis pigmentosa.
KW KW-0836:Usher syndrome.
//
ID Usher syndrome 2D.
AC DI-02406
AR USH2D.
DE USH is a genetically heterogeneous condition characterized by the
DE association of retinitis pigmentosa and sensorineural deafness. Age at
DE onset and differences in auditory and vestibular function distinguish
DE Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher
DE syndrome type 3 (USH3). USH2 is characterized by congenital mild
DE hearing impairment with normal vestibular responses.
DR MIM; 611383; phenotype.
DR MedGen; C1568249.
DR MeSH; D052245.
KW KW-0682:Retinitis pigmentosa.
KW KW-0836:Usher syndrome.
//
ID Usher syndrome 3A.
AC DI-01120
AR USH3A.
DE USH is a genetically heterogeneous condition characterized by the
DE association of retinitis pigmentosa with sensorineural deafness. Age
DE at onset and differences in auditory and vestibular function
DE distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2)
DE and Usher syndrome type 3 (USH3). USH3 is characterized by
DE postlingual, progressive hearing loss, variable vestibular
DE dysfunction, and onset of retinitis pigmentosa symptoms, including
DE nyctalopia, constriction of the visual fields, and loss of central
DE visual acuity, usually by the second decade of life.
SY USH3.
SY Usher's syndrome type 3.
SY Usher syndrome III.
SY Usher syndrome type 3.
SY Usher syndrome type III.
DR MIM; 276902; phenotype.
DR MedGen; C1568248.
DR MeSH; D052245.
KW KW-0682:Retinitis pigmentosa.
KW KW-0836:Usher syndrome.
//
ID Usher syndrome 3B.
AC DI-03383
AR USH3B.
DE A syndrome characterized by progressive vision and hearing loss during
DE early childhood. Some patients have the so-called 'Charles Bonnet
DE syndrome,' involving decreased visual acuity and vivid visual
DE hallucinations. USH is a genetically heterogeneous condition
DE characterized by the association of retinitis pigmentosa with
DE sensorineural deafness. Age at onset and differences in auditory and
DE vestibular function distinguish Usher syndrome type 1 (USH1), Usher
DE syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH3 is
DE characterized by postlingual, progressive hearing loss, variable
DE vestibular dysfunction, and onset of retinitis pigmentosa symptoms,
DE including nyctalopia, constriction of the visual fields, and loss of
DE central visual acuity, usually by the second decade of life.
DR MIM; 614504; phenotype.
DR MedGen; C3281066.
DR MedGen; CN121957.
DR MeSH; D052245.
KW KW-0682:Retinitis pigmentosa.
KW KW-0836:Usher syndrome.
//
ID Usher syndrome 4.
AC DI-05348
AR USH4.
DE A form of Usher syndrome, a genetically heterogeneous condition
DE characterized by the association of retinitis pigmentosa with
DE sensorineural deafness. Age at onset and differences in auditory and
DE vestibular function distinguish different types of Usher syndrome.
DE USH4 is characterized by late onset of retinitis pigmentosa and
DE usually late-onset of progressive sensorineural hearing loss without
DE vestibular involvement. USH4 inheritance is autosomal recessive.
SY Usher syndrome, type IV.
DR MIM; 618144; phenotype.
DR MedGen; CN257730.
DR MeSH; D052245.
KW KW-0682:Retinitis pigmentosa.
KW KW-0836:Usher syndrome.
//
ID Usmani-Riazuddin syndrome, autosomal dominant.
AC DI-06259
AR USRISD.
DE A neurodevelopmental disorder characterized by global developmental
DE delay with impaired intellectual development and speech delay,
DE hypotonia, and behavioral abnormalities. More variable additional
DE features may include seizures and distal limb anomalies.
DR MIM; 619467; phenotype.
DR MedGen; CN300604.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Usmani-Riazuddin syndrome, autosomal recessive.
AC DI-06260
AR USRISR.
DE A neurodevelopmental disorder characterized by global developmental
DE delay with impaired intellectual development and speech delay,
DE hypotonia, spasticity, and behavioral abnormalities. More variable
DE additional features may include seizures, scoliosis, and joint laxity.
DR MIM; 619548; phenotype.
DR MedGen; CN300606.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID UV-sensitive syndrome 1.
AC DI-02407
AR UVSS1.
DE An autosomal recessive disorder characterized by cutaneous
DE photosensitivity and mild freckling in the absence of neurological
DE abnormalities or skin tumors.
DR MIM; 600630; phenotype.
DR MedGen; C1833561.
DR MedGen; C3551173.
DR MeSH; D052245.
//
ID UV-sensitive syndrome 2.
AC DI-03443
AR UVSS2.
DE An autosomal recessive disorder characterized by cutaneous
DE photosensitivity and mild freckling in the absence of neurological
DE abnormalities or skin tumors.
DR MIM; 614621; phenotype.
DR MedGen; C3553298.
DR MedGen; CN124929.
DR MeSH; D052245.
//
ID UV-sensitive syndrome 3.
AC DI-03444
AR UVSS3.
DE An autosomal recessive disorder characterized by cutaneous
DE photosensitivity and slight dyspigmentation, without an increased risk
DE of skin tumors.
DR MIM; 614640; phenotype.
DR MedGen; C3553328.
DR MedGen; CN124930.
DR MeSH; D052245.
//
ID VACTERL association.
AC DI-02577
AR VACTERL.
DE VACTERL is an acronym for vertebral anomalies, anal atresia,
DE congenital cardiac disease, tracheoesophageal fistula, renal
DE anomalies, radial dysplasia, and other limb defects.
DR MIM; 192350; phenotype.
DR MedGen; C0220708.
DR MedGen; C1735591.
//
ID VACTERL association with hydrocephalus.
AC DI-02408
AR VACTERL-H.
DE VACTERL is an acronym for vertebral anomalies, anal atresia,
DE congenital cardiac disease, tracheoesophageal fistula, renal
DE anomalies, radial dysplasia, and other limb defects.
DR MIM; 276950; phenotype.
DR MedGen; C1848599.
DR MedGen; C1848600.
DR MedGen; C2749240.
//
ID VACTERL association X-linked with or without hydrocephalus.
AC DI-02462
AR VACTERLX.
DE A syndrome characterized by a non-random association of congenital
DE defects. Affected individuals manifest vertebral anomalies (V), anal
DE atresia (A), cardiac malformations (C), tracheoesophageal fistula
DE (TE), renal anomalies (R) such as urethral atresia with
DE hydronephrosis, and limb anomalies (L) such as hexadactyly, humeral
DE hypoplasia, radial aplasia, and proximally placed thumb. Some patients
DE may have hydrocephalus. Some cases of VACTERL-H are associated with
DE increased chromosome breakage and rearrangement.
SY VACTERL syndrome.
SY Vertebral anal tracheoesophageal esophageal radial anomalies.
SY X-linked VACTERL-H.
DR MIM; 314390; phenotype.
DR MedGen; C1839115.
DR MedGen; C2931228.
DR MeSH; D000015.
//
ID Van Buchem disease.
AC DI-01121
AR VBCH.
DE VBCH is an autosomal recessive sclerosing bone dysplasia characterized
DE by endosteal hyperostosis of the mandible, skull, ribs, clavicles, and
DE diaphyses of the long bones. Affected patients present a symmetrically
DE increased thickness of bones, most frequently found as an enlarged
DE jawbone, but also an enlargement of the skull, ribs, diaphysis of long
DE bones, as well as tubular bones of hands and feet. The clinical
DE consequence of increased thickness of the skull include facial nerve
DE palsy causing hearing loss, visual problems, neurological pain, and,
DE very rarely, blindness as a consequence of optic atrophy. Serum
DE alkaline phosphatase levels are elevated.
SY Endosteal hyperostosis autosomal recessive.
SY Hyperostosis corticalis generalisata.
SY Hyperphosphatasemia tarda.
DR MIM; 239100; phenotype.
DR MedGen; C0432272.
DR MeSH; D010009.
//
ID Van Buchem disease 2.
AC DI-01122
AR VBCH2.
DE VBCH2 is an autosomal dominant sclerosing bone dysplasia characterized
DE by cranial osteosclerosis, thickened calvaria and cortices of long
DE bones, enlarged mandible and normal serum alkaline phosphatase levels.
DR MIM; 607636; phenotype.
DR MedGen; C1843323.
DR MeSH; D010009.
//
ID Van den Ende-Gupta syndrome.
AC DI-03057
AR VDEGS.
DE A syndrome characterized by craniofacial and skeletal abnormalities
DE that include blepharophimosis, a flat and wide nasal bridge, narrow
DE and beaked nose, hypoplastic maxilla with or without cleft palate and
DE everted lower lip, prominent ears, down-slanting eyes, arachnodactyly,
DE and camptodactyly. Patients present congenital joint contractures that
DE improve without intervention, and normal growth and development.
DE Intelligence is normal. Rarely, enlarged cerebella can be present.
DE Some patients experience respiratory problems due to laryngeal
DE abnormalities.
SY Blepharophimosis arachnodactyly and congenital contractures.
SY Marden-Walker-like syndrome without psychomotor retardation.
DR MIM; 600920; phenotype.
DR MedGen; C1833136.
DR MeSH; D003286.
DR MeSH; D016569.
DR MeSH; D054119.
//
ID Van der Woude syndrome 1.
AC DI-01123
AR VWS1.
DE An autosomal dominant developmental disorder characterized by lower
DE lip pits, cleft lip and/or cleft palate.
SY Cleft lip and/or palate with mucous cysts of lower lip.
SY Lip-pit syndrome.
SY LPS.
SY PIT.
SY VDWS.
DR MIM; 119300; phenotype.
DR MedGen; C0175697.
DR MeSH; D002971.
DR MeSH; D002972.
//
ID Van der Woude syndrome 2.
AC DI-03278
AR VWS2.
DE An autosomal dominant developmental disorder characterized by lower
DE lip pits, cleft lip and/or cleft palate.
DR MIM; 606713; phenotype.
DR MedGen; C1847604.
DR MeSH; D002971.
DR MeSH; D002972.
//
ID Van Esch-O'Driscoll syndrome.
AC DI-05626
AR VEODS.
DE An X-linked recessive syndrome characterized by different degrees of
DE intellectual disability, moderate to severe short stature,
DE microcephaly, hypogonadism, and variable congenital malformations.
SY MRXSVEOD.
DR MIM; 301030; phenotype.
DR MedGen; CN262177.
DR MeSH; D008607.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
//
ID Van Maldergem syndrome 1.
AC DI-03982
AR VMLDS1.
DE An autosomal recessive disorder characterized by intellectual
DE disability, typical craniofacial features, auditory malformations
DE resulting in hearing loss, and skeletal and limb malformations. Some
DE patients have renal hypoplasia. Brain MRI typically shows
DE periventricular nodular heterotopia.
SY Cerebrofacioarticular syndrome.
SY Cerebro-facio-articular syndrome.
DR MIM; 601390; phenotype.
DR MedGen; C1832390.
DR MeSH; D000015.
DR MeSH; D008607.
KW KW-0209:Deafness.
KW KW-0991:Intellectual disability.
//
ID Van Maldergem syndrome 2.
AC DI-03983
AR VMLDS2.
DE An autosomal recessive disorder characterized by intellectual
DE disability, typical craniofacial features, auditory malformations
DE resulting in hearing loss, and skeletal and limb malformations. Some
DE patients have renal hypoplasia. Brain MRI typically shows
DE periventricular nodular heterotopia.
DR MIM; 615546; phenotype.
DR MedGen; C3809875.
DR MedGen; CN182241.
DR MeSH; D000015.
DR MeSH; D008607.
KW KW-0209:Deafness.
KW KW-0991:Intellectual disability.
//
ID Variegate porphyria.
AC DI-00928
AR VP.
DE A form of porphyria. Porphyrias are inherited defects in the
DE biosynthesis of heme, resulting in the accumulation and increased
DE excretion of porphyrins or porphyrin precursors. They are classified
DE as erythropoietic or hepatic, depending on whether the enzyme
DE deficiency occurs in red blood cells or in the liver. Variegate
DE porphyria is the most common form of porphyria in South Africa. It is
DE characterized by skin hyperpigmentation and hypertrichosis, abdominal
DE pain, tachycardia, hypertension and neuromuscular disturbances. High
DE fecal levels of protoporphyrin and coproporphyrin, increased urine
DE uroporphyrins and iron overload are typical markers of the disease.
SY Porphyria South African type.
SY Porphyria variegata.
SY PPOX deficiency.
SY Protoporphyrinogen oxidase deficiency.
SY PV.
DR MIM; 176200; phenotype.
DR MedGen; C0162532.
DR MedGen; C2936913.
DR MedGen; C3149848.
DR MeSH; D046350.
//
ID Vascular malformation, primary intraosseous.
AC DI-04828
AR VMOS.
DE A rare malformation characterized by non-neoplastic severe expansions
DE of blood vessels, usually seen in the vertebral column and in the
DE skull. The most commonly affected bones in the skull are the mandible
DE and the maxilla, and life-threatening bleeding after a simple tooth
DE extraction is frequently observed. Inheritance is autosomal recessive.
SY Hemangioma, intraosseous.
SY Vascular malformation osseous.
DR MIM; 606893; phenotype.
DR MedGen; C1847197.
DR MeSH; D054079.
//
ID Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome.
AC DI-04055
AR VAIHS.
DE An autosomal recessive, systemic necrotizing vasculitis that affects
DE medium and small arteries. The ensuing tissue ischemia can affect any
DE organ, including the skin, musculoskeletal system, kidneys,
DE gastrointestinal tract, and the cardiovascular and nervous systems.
DE Organ involvement and disease severity are highly variable. Clinical
DE features include recurrent ischemic stroke affecting the small vessels
DE of the brain and resulting in neurologic dysfunction, recurrent fever,
DE myalgias, livedoid rash, gastrointestinal pain and hepatosplenomegaly.
SY ADA2 deficiency.
SY PAN.
SY Periarteritis nodosa.
SY Polyarteritis nodosa.
DR MIM; 615688; phenotype.
DR MedGen; C0031036.
DR MeSH; D010488.
//
ID Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations.
AC DI-00261
AR RVCLS.
DE An adult-onset, autosomal dominant endotheliopathy affecting the
DE microvessels of the brain. It results in central nervous system
DE degeneration and retinopathy, with progressive loss of vision, stroke,
DE motor impairment, and cognitive decline. The ocular manifestations are
DE characterized by telangiectasias, microaneurysms and retinal capillary
DE obliteration starting in the macula. Diseased cerebral white matter
DE has prominent small infarcts that often coalesce to pseudotumors. A
DE subset of patients have systemic vascular involvement that can
DE manifest as Raynaud phenomenon, micronodular cirrhosis, and glomerular
DE dysfunction.
SY Cerebroretinal vasculopathy.
SY CRV.
SY Hereditary endotheliopathy with retinopathy-nephropathy-stroke.
SY HERNS.
SY Vascular retinopathy with cerebral and renal involvement and Raynaud and migraine phenomena.
DR MIM; 192315; phenotype.
DR MedGen; C1860518.
DR MeSH; D002561.
DR MeSH; D012164.
KW KW-0523:Neurodegeneration.
//
ID Velocardiofacial syndrome.
AC DI-02410
AR VCFS.
DE A syndrome characterized by abnormal pharyngeal arch development that
DE results in defective development of the parathyroid glands, thymus,
DE and conotruncal region of the heart. The phenotype is highly variable,
DE with no single clinical feature present in every patient. Affected
DE individuals may present with structural or functional palatal
DE abnormalities, cardiac defects, unique facial characteristics,
DE hypernasal speech, hypotonia, and defective thymic development
DE associated with impaired immune function. In addition, affected
DE individuals may present with learning disabilities, overt
DE developmental delay, and psychiatric disorders.
SY Chromosome 22q11.2 deletion syndrome.
SY Shprintzen VCF syndrome.
SY VCF syndrome.
SY Velo-cardio-facial syndrome.
DR MIM; 192430; phenotype.
DR MedGen; C0220704.
DR MeSH; D004062.
//
ID Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome.
AC DI-06122
AR VACRDS.
DE An autosomal dominant arrhythmogenic disorder characterized by
DE syncope, cardiac arrest and/or sudden unexpected death, often in
DE association with physical exertion or acute emotional stress. Patients
DE who survive manifest polymorphic ventricular tachycardia and
DE ventricular fibrillation. Unlike typical catecholaminergic ventricular
DE tachycardia, arrhythmias are not reproducible on exercise stress
DE testing or adrenaline challenge.
SY RYR2 calcium release deficiency syndrome.
DR MIM; 115000; phenotype.
DR MedGen; C0003811.
DR MeSH; D017180.
//
ID Ventricular septal defect 1.
AC DI-03329
AR VSD1.
DE A common form of congenital cardiovascular anomaly that may occur
DE alone or in combination with other cardiac malformations. It can
DE affect any portion of the ventricular septum, resulting in abnormal
DE communications between the two lower chambers of the heart.
DE Classification is based on location of the communication, such as
DE perimembranous, inlet, outlet (infundibular), central muscular,
DE marginal muscular, or apical muscular defect. Large defects that go
DE unrepaired may give rise to cardiac enlargement, congestive heart
DE failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal
DE brain development, arrhythmias, and even sudden cardiac death.
DR MIM; 614429; phenotype.
DR MedGen; C3280777.
DR MeSH; D006345.
//
ID Ventricular septal defect 2.
AC DI-03330
AR VSD2.
DE A common form of congenital cardiovascular anomaly that may occur
DE alone or in combination with other cardiac malformations. It can
DE affect any portion of the ventricular septum, resulting in abnormal
DE communications between the two lower chambers of the heart.
DE Classification is based on location of the communication, such as
DE perimembranous, inlet, outlet (infundibular), central muscular,
DE marginal muscular, or apical muscular defect. Large defects that go
DE unrepaired may give rise to cardiac enlargement, congestive heart
DE failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal
DE brain development, arrhythmias, and even sudden cardiac death.
DR MIM; 614431; phenotype.
DR MedGen; C3280783.
DR MeSH; D006345.
//
ID Ventricular septal defect 3.
AC DI-03331
AR VSD3.
DE A common form of congenital cardiovascular anomaly that may occur
DE alone or in combination with other cardiac malformations. It can
DE affect any portion of the ventricular septum, resulting in abnormal
DE communications between the two lower chambers of the heart.
DE Classification is based on location of the communication, such as
DE perimembranous, inlet, outlet (infundibular), central muscular,
DE marginal muscular, or apical muscular defect. Large defects that go
DE unrepaired may give rise to cardiac enlargement, congestive heart
DE failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal
DE brain development, arrhythmias, and even sudden cardiac death.
DR MIM; 614432; phenotype.
DR MedGen; C3280785.
DR MeSH; D006345.
//
ID Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy.
AC DI-00249
AR CPVT1.
DE An arrhythmogenic disorder characterized by stress-induced,
DE bidirectional ventricular tachycardia that may degenerate into cardiac
DE arrest and cause sudden death. Patients present with recurrent
DE syncope, seizures, or sudden death after physical activity or
DE emotional stress. CPVT1 inheritance is autosomal dominant.
SY Bidirectional tachycardia.
SY Double tachycardia induced by catecholamines.
SY Malignant paroxysmal ventricular tachycardia.
SY Multifocal ventricular premature beats.
SY Paroxysmal ventricular fibrillation.
SY Stress-induced polymorphic ventricular tachycardia.
SY Syncopal paroxysmal tachycardia.
SY Syncopal tachyarythmia.
SY Ventricular tachycardia catecholaminergic polymorphic 1.
SY VTSIP.
DR MIM; 604772; phenotype.
DR MedGen; C1631597.
DR MeSH; D017180.
//
ID Ventricular tachycardia, catecholaminergic polymorphic, 2.
AC DI-00250
AR CPVT2.
DE An arrhythmogenic disorder characterized by stress-induced,
DE bidirectional ventricular tachycardia that may degenerate into cardiac
DE arrest and cause sudden death. Patients present with recurrent
DE syncope, seizures, or sudden death after physical activity or
DE emotional stress. CPVT2 inheritance is autosomal recessive.
SY Bidirectional tachycardia.
SY Double tachycardia induced by catecholamines.
SY Malignant paroxysmal ventricular tachycardia.
SY Multifocal ventricular premature beats.
SY Paroxysmal ventricular fibrillation.
SY Stress-induced polymorphic ventricular tachycardia.
SY Syncopal paroxysmal tachycardia.
SY Syncopal tachyarythmia.
SY VTSIP.
DR MIM; 611938; phenotype.
DR MedGen; C2677794.
DR MeSH; D017180.
//
ID Ventricular tachycardia, catecholaminergic polymorphic, 3.
AC DI-04918
AR CPVT3.
DE An arrhythmogenic disorder characterized by stress-induced,
DE bidirectional ventricular tachycardia that may degenerate into cardiac
DE arrest and cause sudden death. Patients present with recurrent
DE syncope, or sudden death after physical activity or emotional stress.
DE CPVT3 is an autosomal recessive disorder with onset at early age and
DE associated with sudden death in childhood. Patients manifest QT
DE prolongation on adrenergic stimulation.
DR MIM; 614021; phenotype.
DR MedGen; C3151463.
DR MeSH; D017180.
//
ID Ventricular tachycardia, catecholaminergic polymorphic, 4.
AC DI-03610
AR CPVT4.
DE An arrhythmogenic disorder characterized by stress-induced,
DE bidirectional ventricular tachycardia that may degenerate into cardiac
DE arrest and cause sudden death. Patients present with recurrent
DE syncope, seizures, or sudden death after physical activity or
DE emotional stress. CPVT4 inheritance is autosomal dominant.
SY Bidirectional tachycardia.
SY Double tachycardia induced by catecholamines.
SY Malignant paroxysmal ventricular tachycardia.
SY Multifocal ventricular premature beats.
SY Paroxysmal ventricular fibrillation.
SY Stress-induced polymorphic ventricular tachycardia.
SY Syncopal paroxysmal tachycardia.
SY Syncopal tachyarythmia.
SY VTSIP.
DR MIM; 614916; phenotype.
DR MedGen; C3554047.
DR MedGen; CN160483.
DR MeSH; D017180.
//
ID Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness.
AC DI-03912
AR CPVT5.
DE An arrhythmogenic disorder characterized by stress-induced,
DE bidirectional ventricular tachycardia that may degenerate into cardiac
DE arrest and cause sudden death. Patients present with recurrent
DE syncope, or sudden death after physical activity or emotional stress.
DE Some patients have muscle weakness. CPVT5 inheritance is autosomal
DE recessive.
DR MIM; 615441; phenotype.
DR MedGen; C3809536.
DR MedGen; CN180177.
DR MeSH; D017180.
//
ID Ventricular tachycardia, catecholaminergic polymorphic, 6.
AC DI-05767
AR CPVT6.
DE An arrhythmogenic disorder characterized by stress-induced,
DE bidirectional ventricular tachycardia that may degenerate into cardiac
DE arrest and cause sudden death. Patients present with recurrent
DE syncope, seizures, or sudden death after physical activity or
DE emotional stress. CPVT6 inheritance is autosomal dominant.
DR MIM; 618782; phenotype.
DR MedGen; CN263316.
DR MeSH; D017180.
//
ID Ventriculomegaly and arthrogryposis.
AC DI-06216
AR VENARG.
DE An autosomal recessive disorder with fatal outcome, characterized by
DE prenatal onset of severe features including limb contractures,
DE arthrogryposis, and enlarged brain ventricles that may be associated
DE with hydrocephalus, abnormalities of the corpus callosum, and
DE cerebellar hypoplasia. Some affected fetuses may also have congenital
DE heart disease and hydrops fetalis. Death occurs in utero.
DR MIM; 619501; phenotype.
DR MedGen; CN300393.
DR MeSH; D001176.
DR MeSH; D006849.
//
ID Ventriculomegaly with cystic kidney disease.
AC DI-04346
AR VMCKD.
DE A severe autosomal recessive developmental disorder manifesting in
DE utero. It is characterized by cerebral ventriculomegaly, echogenic
DE kidneys, microscopic renal tubular cysts and findings of congenital
DE nephrosis.
DR MIM; 219730; phenotype.
DR MedGen; C1857423.
DR MeSH; D006849.
DR MeSH; D052177.
//
ID Verheij syndrome.
AC DI-03999
AR VRJS.
DE A syndrome characterized by growth retardation, delayed psychomotor
DE development, dysmorphic facial features, and skeletal, mainly
DE vertebral, abnormalities. Additional variable features may include
DE coloboma, renal defects, and cardiac defects.
SY Chromosome 8q24.3 deletion syndrome.
DR MIM; 615583; phenotype.
DR MedGen; C3810023.
DR MedGen; CN183033.
DR MeSH; D000015.
//
ID Vertebral anomalies and variable endocrine and T-cell dysfunction.
AC DI-05435
AR VETD.
DE An autosomal dominant syndrome characterized by skeletal malformations
DE primarily involving the vertebrae, immunodeficiency, endocrine
DE abnormalities such as hypoparathyroidism and growth hormone
DE deficiency, craniofacial dysmorphism, congenital cardiac anomalies
DE consisting of double-outlet right ventricle, pulmonary valve stenosis
DE and atrial septal defect, and developmental impairments.
DR MIM; 618223; phenotype.
DR MedGen; CN257496.
DR MeSH; D000015.
//
ID Vertebral hypersegmentation and orofacial anomalies.
AC DI-05988
AR VHO.
DE An autosomal dominant disease characterized by supernumerary ribs,
DE supernumerary cervical, thoracic and/or lumbar vertebrae, and
DE orofacial anomalies such as cleft lip with or without cleft palate in
DE most patients.
DR MIM; 619122; phenotype.
DR MedGen; CN293577.
DR MeSH; D002971.
DR MeSH; D002972.
DR MeSH; D013122.
//
ID Vertebral, cardiac, renal, and limb defects syndrome 1.
AC DI-05094
AR VCRL1.
DE An autosomal recessive congenital malformation syndrome characterized
DE by vertebral segmentation abnormalities, congenital cardiac defects,
DE renal defects, and distal mild limb defects.
SY 3-hydroxyanthranilic acidemia.
SY Congenital NAD deficiency disorder 1.
DR MIM; 617660; phenotype.
DR MedGen; CN482173.
DR MeSH; D000015.
//
ID Vertebral, cardiac, renal, and limb defects syndrome 2.
AC DI-05095
AR VCRL2.
DE An autosomal recessive congenital malformation syndrome characterized
DE by vertebral segmentation abnormalities, congenital cardiac defects,
DE renal defects, and distal mild limb defects.
DR MIM; 617661; phenotype.
DR MedGen; CN482174.
DR MeSH; D000015.
//
ID Vertebral, cardiac, renal, and limb defects syndrome 3.
AC DI-05813
AR VCRL3.
DE An autosomal recessive, lethal disorder characterized by severe
DE cardiac and renal anomalies, including hypoplastic or absent left
DE ventricle, transposition of the great arteries, absent pulmonary
DE trunk, and hypoplastic or absent kidneys. Patients also exhibit
DE vertebral segmentation defects and shortening of the proximal long
DE bones or micromelia. Death occurs in early infancy.
SY Congenital NAD deficiency disorder.
DR MIM; 618845; phenotype.
DR MedGen; CN272929.
DR MeSH; D000015.
//
ID Vertebral, cardiac, tracheoesophageal, renal, and limb defects.
AC DI-06041
AR VCTRL.
DE An autosomal dominant disorder with incomplete penetrance and variable
DE expressivity, characterized by cardiac, vertebral, tracheo-esophageal,
DE renal and limb defects. Some patients also exhibit craniofacial
DE abnormalities.
DR MIM; 619227; phenotype.
DR MedGen; CN295807.
DR MeSH; D000015.
//
ID Vertical talus, congenital.
AC DI-01422
AR CVT.
DE A rare malformation characterized by vertical orientation of the talus
DE with a rigid dorsal dislocation of the navicular, equinus deformity of
DE the calcaneus, abduction deformity of the forefoot, and contracture of
DE the soft tissues of the hind- and mid-foot. This condition is usually
DE associated with multiple other congenital deformities and only rarely
DE is an isolated deformity with familial occurrence.
SY Congenital convex pes valgus.
SY Rocker-bottom foot deformity.
DR MIM; 192950; phenotype.
DR MedGen; C0240912.
DR MedGen; C1840503.
DR MeSH; D005532.
//
ID Ververi-Brady syndrome.
AC DI-05250
AR VERBRAS.
DE An autosomal dominant disorder characterized by mild developmental
DE delay and intellectual disability, speech delay, learning
DE difficulties, autistic features, and mild facial dysmorphism.
DR MIM; 617982; phenotype.
DR MedGen; CN244927.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID Vesicoureteral reflux 2.
AC DI-02412
AR VUR2.
DE A disease belonging to the group of congenital anomalies of the kidney
DE and urinary tract. It is characterized by the reflux of urine from the
DE bladder into the ureters and sometimes into the kidneys, and is a risk
DE factor for urinary tract infections. Primary disease results from a
DE developmental defect of the ureterovesical junction. In combination
DE with intrarenal reflux, the resulting inflammatory reaction may result
DE in renal injury or scarring, also called reflux nephropathy. Extensive
DE renal scarring impairs renal function and may predispose patients to
DE hypertension, proteinuria, renal insufficiency and end-stage renal
DE disease.
DR MIM; 610878; phenotype.
DR MedGen; C1970483.
DR MeSH; D014718.
//
ID Vesicoureteral reflux 3.
AC DI-02977
AR VUR3.
DE A disease belonging to the group of congenital anomalies of the kidney
DE and urinary tract. It is characterized by the reflux of urine from the
DE bladder into the ureters and sometimes into the kidneys, and is a risk
DE factor for urinary tract infections. Primary disease results from a
DE developmental defect of the ureterovesical junction. In combination
DE with intrarenal reflux, the resulting inflammatory reaction may result
DE in renal injury or scarring, also called reflux nephropathy. Extensive
DE renal scarring impairs renal function and may predispose patients to
DE hypertension, proteinuria, renal insufficiency and end-stage renal
DE disease.
DR MIM; 613674; phenotype.
DR MedGen; C3150927.
DR MeSH; D014718.
//
ID Vesicoureteral reflux 8.
AC DI-04199
AR VUR8.
DE A disease belonging to the group of congenital anomalies of the kidney
DE and urinary tract. It is characterized by the reflux of urine from the
DE bladder into the ureters and sometimes into the kidneys, and is a risk
DE factor for urinary tract infections. Primary disease results from a
DE developmental defect of the ureterovesical junction. In combination
DE with intrarenal reflux, the resulting inflammatory reaction may result
DE in renal injury or scarring, also called reflux nephropathy. Extensive
DE renal scarring impairs renal function and may predispose patients to
DE hypertension, proteinuria, renal insufficiency and end-stage renal
DE disease.
DR MIM; 615963; phenotype.
DR MedGen; CN218430.
DR MeSH; D014718.
//
ID VEXAS syndrome.
AC DI-05955
AR VEXAS.
DE A sporadic, often fatal, treatment-refractory inflammatory syndrome
DE that develops in late adulthood. Clinical features include fevers,
DE cytopenias, characteristic vacuoles in myeloid and erythroid precursor
DE cells, dysplastic bone marrow, neutrophilic cutaneous and pulmonary
DE inflammation, chondritis, and vasculitis. The disease affects only
DE males and is associated with de novo somatic mutations.
SY Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic.
SY VEXAS syndrome, somatic.
DR MIM; 301054; phenotype.
DR MedGen; CN293453.
DR MeSH; D007249.
//
ID Vibratory urticaria.
AC DI-04656
AR VBU.
DE An autosomal dominant disorder characterized by localized hives and
DE systemic manifestations in response to dermal vibration, with
DE coincident degranulation of mast cells and increased histamine levels
DE in serum.
SY Dermodistortive urticaria.
SY Vibratory angioedema.
DR MIM; 125630; phenotype.
DR MedGen; C1852146.
DR MeSH; D000799.
//
ID Vici syndrome.
AC DI-03646
AR VICIS.
DE A rare congenital multisystem disorder characterized by agenesis of
DE the corpus callosum, cataracts, pigmentary defects, progressive
DE cardiomyopathy, and variable immunodeficiency. Affected individuals
DE also have profound psychomotor retardation and hypotonia due to a
DE myopathy.
SY Immunodeficiency with cleft lip/palate cataract hypopigmentation and absent corpus callosum.
DR MIM; 242840; phenotype.
DR MedGen; C1855772.
DR MeSH; D002386.
DR MeSH; D007153.
DR MeSH; D061085.
KW KW-0898:Cataract.
//
ID Visceral myopathy 1.
AC DI-04078
AR VSCM1.
DE An autosomal dominant form of myopathic pseudo-obstruction
DE characterized by impaired function of enteric smooth muscle cells,
DE resulting in abnormal intestinal motility, severe abdominal pain,
DE malnutrition, and even death. The disease shows inter- and
DE intrafamilial variability. Most severely affected patients exhibit
DE prenatal bladder enlargement, intestinal malrotation, neonatal
DE functional gastrointestinal obstruction, and dependence on total
DE parenteral nutrition and urinary catheterization.
SY Berdon syndrome.
SY Idiopathic intestinal pseudoobstruction.
SY Infantile visceral myopathy.
SY Megacystis-microcolon-intestinal hypoperistalsis syndrome.
SY Megaduodenum and/or megacystis.
SY MMIH.
DR MIM; 155310; phenotype.
DR MedGen; C0266833.
DR MedGen; C1835084.
DR MeSH; D007418.
//
ID Visceral myopathy 2.
AC DI-06119
AR VSCM2.
DE A form of visceral myopathy, a gastrointestinal pseudo-obstruction
DE disorder characterized by impaired function of enteric smooth muscle
DE cells, intestinal dysmotility and paresis, severe abdominal pain, and
DE malnutrition. The disease shows inter- and intrafamilial variability.
DE VSCM2 inheritance is autosomal dominant.
DR MIM; 619350; phenotype.
DR MedGen; CN296893.
DR MeSH; D007418.
//
ID Visceral neuropathy, familial, 1, autosomal recessive.
AC DI-06181
AR VSCN1.
DE An autosomal recessive disorder characterized by intestinal
DE dysmotility due to aganglionosis (Hirschsprung disease),
DE hypoganglionosis, and/or chronic intestinal pseudoobstruction.
DE Additional variable features are progressive peripheral neuropathy,
DE arthrogryposis, hypoplasia or aplasia of the olfactory bulb and of the
DE external auditory canals, microtia or anotia, and facial dysmorphism.
DE Some patients present structural cardiac anomalies and arthrogryposis
DE with multiple pterygia.
DR MIM; 243180; phenotype.
DR MedGen; C1855733.
DR MeSH; D007410.
DR MeSH; D009422.
//
ID Visceral neuropathy, familial, 2, autosomal recessive.
AC DI-06182
AR VSCN2.
DE An autosomal recessive disorder characterized by intestinal
DE dysmotility due to aganglionosis (Hirschsprung disease),
DE hypoganglionosis, and/or chronic intestinal pseudoobstruction.
DE Patients also show peripheral axonal neuropathy, hypotonia, mild
DE developmental delay, unilateral ptosis, and sensorineural hearing
DE loss.
DR MIM; 619465; phenotype.
DR MedGen; CN300314.
DR MeSH; D007410.
DR MeSH; D009422.
//
ID VISS syndrome.
AC DI-06191
AR VISS.
DE An autosomal recessive disease characterized by early-onset thoracic
DE aortic aneurysm, aneurysm and tortuosity of other arteries, motor
DE developmental delay, connective tissue findings such as joint
DE hypermobility, skin laxity and hernias, and craniofacial dysmorphic
DE features. Immune dysregulation has been reported in some patients.
DR MIM; 619472; phenotype.
DR MedGen; CN300318.
DR MeSH; D001014.
DR MeSH; D002658.
DR MeSH; D003240.
KW KW-0993:Aortic aneurysm.
//
ID Vissers-Bodmer syndrome.
AC DI-05920
AR VIBOS.
DE An autosomal dominant disorder characterized by global developmental
DE delay, intellectual disability of varying degree, speech delay, motor
DE delay, and hypotonia. Abnormal growth, and cerebral, skeletal, muscle
DE and soft tissue abnormalities are frequently observed. Many patients
DE have behavioral problems, including anxiety, obsessive compulsive
DE disorder, autism spectrum disorder and attention-deficit hyperactivity
DE disorder.
DR MIM; 619033; phenotype.
DR MedGen; CN283412.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
KW KW-1268:Autism spectrum disorder.
//
ID Visual impairment and progressive phthisis bulbi.
AC DI-05463
AR VIPB.
DE An autosomal recessive, progressive disease characterized by poor
DE vision at birth and development of bilateral phthisis bulbi by
DE adulthood.
DR MIM; 618283; phenotype.
DR MedGen; CN258119.
DR MeSH; D005128.
//
ID Vitamin D-dependent rickets 3.
AC DI-05946
AR VDDR3.
DE An autosomal dominant disorder of vitamin D metabolism resulting in
DE early-onset rickets, reduced serum levels of the vitamin D metabolites
DE 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D, and deficient
DE responsiveness to parent and activated forms of vitamin D.
SY Vitamin D-dependent rickets, type 3.
DR MIM; 619073; phenotype.
DR MedGen; CN293406.
DR MeSH; D012279.
//
ID Vitiligo.
AC DI-02735
AR VTLG.
DE A pigmentary disorder of the skin and mucous membranes. It is
DE characterized by circumscribed depigmented macules and patches,
DE commonly on extensor aspects of extremities, on the face or neck and
DE in skin folds. Vitiligo is a progressive disorder in which some or all
DE of the melanocytes in the affected skin are selectively destroyed. It
DE is a multifactorial disorder with a complex etiology probably
DE including autoimmune mechanisms, and is associated with an elevated
DE risk of other autoimmune diseases.
SY Generalized vitiligo.
DR MIM; 193200; phenotype.
DR MedGen; C0042900.
DR MedGen; C3277701.
DR MeSH; D014820.
//
ID Vitiligo-associated multiple autoimmune disease 1.
AC DI-02736
AR VAMAS1.
DE A disorder characterized by the association of vitiligo with several
DE autoimmune and autoinflammatory diseases including autoimmune thyroid
DE disease, rheumatoid arthritis and systemic lupus erythematosus.
SY SLEV1.
SY Systemic lupus erythematosus vitiligo-related.
DR MIM; 606579; phenotype.
DR MedGen; C1847835.
DR MeSH; D001327.
//
ID Vitreoretinochoroidopathy.
AC DI-01125
AR VRCP.
DE An autosomal dominant ocular disorder characterized by
DE vitreoretinochoroidal dystrophy. The clinical presentation is
DE variable. VRCP may be associated with cataract, nanophthalmos,
DE microcornea, shallow anterior chamber, and glaucoma.
SY ADVIRC.
SY Vitreoretinochoroidopathy, autosomal dominant.
SY Vitreoretinochoroidopathy autosomal dominant with nanophthalmos, microcornea, rod-cone dystrophy, cataract and posterior staphyloma.
SY Vitreoretinochoroidopathy with microcornea-glaucoma-cataract.
DR MIM; 193220; phenotype.
DR MedGen; C1860406.
DR MedGen; C2674009.
DR MeSH; D012162.
DR MeSH; D015862.
//
ID Vitreoretinopathy with phalangeal epiphyseal dysplasia.
AC DI-06065
AR VPED.
DE An autosomal dominant disorder characterized by rhegmatogenous retinal
DE detachment, premature arthropathy, and development of phalangeal
DE epiphyseal dysplasia resulting in brachydactyly.
DR MIM; 619248; phenotype.
DR MedGen; C1852989.
DR MeSH; D001848.
DR MeSH; D012164.
DR MeSH; D059327.
//
ID Vitreoretinopathy, exudative 1.
AC DI-01126
AR EVR1.
DE A disorder of the retinal vasculature characterized by an abrupt
DE cessation of growth of peripheral capillaries, leading to an avascular
DE peripheral retina. This may lead to compensatory retinal
DE neovascularization, which is thought to be induced by hypoxia from the
DE initial avascular insult. New vessels are prone to leakage and rupture
DE causing exudates and bleeding, followed by scarring, retinal
DE detachment and blindness. Clinical features can be highly variable,
DE even within the same family. Patients with mild forms of the disease
DE are asymptomatic, and their only disease related abnormality is an arc
DE of avascular retina in the extreme temporal periphery. In many ways
DE the disease resembles retinopathy of prematurity but there is no
DE evidence of prematurity or small birth weight in the patient history.
SY Autosomal dominant familial exudative vitreoretinopathy.
SY Criswick-Schepens syndrome.
SY FEVR.
DR MIM; 133780; phenotype.
DR MedGen; C0035344.
DR MedGen; C1851402.
DR MeSH; D012178.
//
ID Vitreoretinopathy, exudative 2.
AC DI-01127
AR EVR2.
DE A disorder of the retinal vasculature characterized by an abrupt
DE cessation of growth of peripheral capillaries, leading to an avascular
DE peripheral retina. This may lead to compensatory retinal
DE neovascularization, which is thought to be induced by hypoxia from the
DE initial avascular insult. New vessels are prone to leakage and rupture
DE causing exudates and bleeding, followed by scarring, retinal
DE detachment and blindness. Clinical features can be highly variable,
DE even within the same family. Patients with mild forms of the disease
DE are asymptomatic, and their only disease related abnormality is an arc
DE of avascular retina in the extreme temporal periphery.
SY EVRX.
SY Exudative vitreoretinopathy familial 2.
SY FEVRX.
SY FEVR X-linked.
SY X-linked familial exudative vitreoretinopathy.
DR MIM; 305390; phenotype.
DR MedGen; C1844579.
DR MeSH; D012164.
//
ID Vitreoretinopathy, exudative 4.
AC DI-01128
AR EVR4.
DE A disorder of the retinal vasculature characterized by an abrupt
DE cessation of growth of peripheral capillaries, leading to an avascular
DE peripheral retina. This may lead to compensatory retinal
DE neovascularization, which is thought to be induced by hypoxia from the
DE initial avascular insult. New vessels are prone to leakage and rupture
DE causing exudates and bleeding, followed by scarring, retinal
DE detachment and blindness. Clinical features can be highly variable,
DE even within the same family. Patients with mild forms of the disease
DE are asymptomatic, and their only disease related abnormality is an arc
DE of avascular retina in the extreme temporal periphery.
DR MIM; 601813; phenotype.
DR MedGen; C1866176.
DR MeSH; D012164.
//
ID Vitreoretinopathy, exudative 5.
AC DI-02686
AR EVR5.
DE A disorder of the retinal vasculature characterized by an abrupt
DE cessation of growth of peripheral capillaries, leading to an avascular
DE peripheral retina. This may lead to compensatory retinal
DE neovascularization, which is thought to be induced by hypoxia from the
DE initial avascular insult. New vessels are prone to leakage and rupture
DE causing exudates and bleeding, followed by scarring, retinal
DE detachment and blindness. Clinical features can be highly variable,
DE even within the same family. Patients with mild forms of the disease
DE are asymptomatic, and their only disease related abnormality is an arc
DE of avascular retina in the extreme temporal periphery.
DR MIM; 613310; phenotype.
DR MedGen; C2750079.
DR MeSH; D012164.
//
ID Vitreoretinopathy, exudative 6.
AC DI-04484
AR EVR6.
DE A form of exudative vitreoretinopathy, a disorder of the retinal
DE vasculature characterized by an abrupt cessation of growth of
DE peripheral capillaries, leading to an avascular peripheral retina.
DE This may lead to compensatory retinal neovascularization, which is
DE thought to be induced by hypoxia from the initial avascular insult.
DE New vessels are prone to leakage and rupture causing exudates and
DE bleeding, followed by scarring, retinal detachment and blindness.
DE Clinical features can be highly variable, even within the same family.
DE Patients with mild forms of the disease are asymptomatic, and their
DE only disease related abnormality is an arc of avascular retina in the
DE extreme temporal periphery.
DR MIM; 616468; phenotype.
DR MedGen; CN231687.
DR MeSH; D012164.
//
ID Vitreoretinopathy, exudative 7.
AC DI-05042
AR EVR7.
DE A form of exudative vitreoretinopathy, a disorder of the retinal
DE vasculature characterized by an abrupt cessation of growth of
DE peripheral capillaries, leading to an avascular peripheral retina.
DE This may lead to compensatory retinal neovascularization, which is
DE thought to be induced by hypoxia from the initial avascular insult.
DE New vessels are prone to leakage and rupture causing exudates and
DE bleeding, followed by scarring, retinal detachment and blindness.
DE Clinical features can be highly variable, even within the same family.
DE Patients with mild forms of the disease are asymptomatic, and their
DE only disease related abnormality is an arc of avascular retina in the
DE extreme temporal periphery.
DR MIM; 617572; phenotype.
DR MedGen; CN321863.
DR MeSH; D012164.
//
ID Vitreoretinopathy, neovascular inflammatory.
AC DI-03622
AR VRNI.
DE An autoimmune condition of the eye that sequentially mimics uveitis,
DE retinitis pigmentosa, and proliferative diabetic retinopathy as it
DE progresses to complete blindness. Patients present during the second
DE or third decade of life with posterior uveitis and reduction of the
DE electroretinogram b-wave. They become more symptomatic when cataracts,
DE cystoid macular edema, and disk edema diminish visual acuity during
DE the second stage. Severe vision loss begins during the third stage
DE when proliferative retinal neovascularization and epiretinal membranes
DE appear. There is an ongoing pigmentary retinal degeneration and
DE peripheral visual field loss during all stages. In the fourth stage,
DE proliferative vitreoretinopathy causes tractional retinal detachments
DE at the macula and vitreous base. The fifth or end-stage disease is
DE marked by phthisis.
SY ADNIV.
SY Neovascular inflammatory vitreoretinopathy autosomal dominant.
SY Proliferative vitreoretinopathy.
SY PVR.
DR MIM; 193235; phenotype.
DR MedGen; C1860404.
DR MeSH; D018630.
//
ID Vohwinkel syndrome.
AC DI-01129
AR VOWNKL.
DE An autosomal dominant disease characterized by hyperkeratosis,
DE constriction on fingers and toes and congenital deafness.
SY Congenital deafness with keratopachydermia and constrictions of fingers and toes.
SY Keratoderma hereditarium mutilans.
SY KHM.
SY Mutilating keratoderma.
DR MIM; 124500; phenotype.
DR MedGen; C0265964.
DR MeSH; D006319.
DR MeSH; D007645.
DR MeSH; D017880.
KW KW-0209:Deafness.
KW KW-1007:Palmoplantar keratoderma.
//
ID Vohwinkel syndrome with ichthyosis.
AC DI-01130
AR VSI.
DE A variant form of Vohwinkel syndrome without hearing loss and
DE associated with ichthyosiform dermatosis. Clinical features include
DE palmoplantar keratoderma, pseudoainhum and ichthyosis. Compact
DE hyperkeratosis with round retained nuclei and hypergranulosis is
DE observed on skin biopsies.
SY LK.
SY Loricrin keratoderma.
SY Mutilating keratoderma with ichthyosis.
SY Vohwinkel syndrome variant form.
DR MIM; 604117; phenotype.
DR MedGen; C1858805.
DR MeSH; D007057.
DR MeSH; D007645.
DR MeSH; D017880.
KW KW-0977:Ichthyosis.
KW KW-1007:Palmoplantar keratoderma.
//
ID von Hippel-Lindau disease.
AC DI-01131
AR VHLD.
DE VHLD is a dominantly inherited familial cancer syndrome predisposing
DE to a variety of malignant and benign neoplasms, most frequently
DE retinal, cerebellar and spinal hemangioblastoma, renal cell carcinoma
DE (RCC), pheochromocytoma, and pancreatic tumors. VHL type 1 is without
DE pheochromocytoma, type 2 is with pheochromocytoma. VHL type 2 is
DE further subdivided into types 2A (pheochromocytoma, retinal angioma,
DE and hemangioblastomas without renal cell carcinoma and pancreatic
DE cyst) and 2B (pheochromocytoma, retinal angioma, and hemangioblastomas
DE with renal cell carcinoma and pancreatic cyst).
SY VHLS.
SY Von Hippel-Lindau syndrome.
DR MIM; 193300; phenotype.
DR MedGen; C0019562.
DR MedGen; C2674004.
DR MedGen; CN169367.
DR MeSH; D006623.
//
ID von Willebrand disease 1.
AC DI-02903
AR VWD1.
DE A common hemorrhagic disorder due to defects in von Willebrand factor
DE protein and resulting in impaired platelet aggregation. Von Willebrand
DE disease type 1 is characterized by partial quantitative deficiency of
DE circulating von Willebrand factor, that is otherwise structurally and
DE functionally normal. Clinical manifestations are mucocutaneous
DE bleeding, such as epistaxis and menorrhagia, and prolonged bleeding
DE after surgery or trauma.
SY von Willebrand disease type I.
SY von Willebrand factor deficiency type 1.
DR MIM; 193400; phenotype.
DR MedGen; C1264039.
DR MeSH; D056725.
//
ID von Willebrand disease 2.
AC DI-02904
AR VWD2.
DE A hemorrhagic disorder due to defects in von Willebrand factor protein
DE and resulting in altered platelet aggregation. Von Willebrand disease
DE type 2 is characterized by qualitative deficiency and functional
DE anomalies of von Willebrand factor. It is divided in different
DE subtypes including 2A, 2B, 2M and 2N (Normandy variant). The mutant
DE VWF protein in types 2A, 2B and 2M are defective in their platelet-
DE dependent function, whereas the mutant protein in type 2N is defective
DE in its ability to bind factor VIII. Clinical manifestations are
DE mucocutaneous bleeding, such as epistaxis and menorrhagia, and
DE prolonged bleeding after surgery or trauma.
SY Von Willebrand disease Normandy variant.
SY Von Willebrand disease type 2A.
SY Von Willebrand disease type 2B.
SY Von Willebrand disease type 2M.
SY Von Willebrand disease type 2 Malmo.
SY Von Willebrand disease type 2N.
SY von Willebrand disease type II.
SY Von Willebrand disease type I New York.
SY von Willebrand factor deficiency type 2.
SY VWD2A.
SY VWD2B.
SY VWD2M.
SY VWD2N.
DR MIM; 613554; phenotype.
DR MedGen; C1264040.
DR MedGen; C1282968.
DR MedGen; C1282971.
DR MedGen; C1282974.
DR MedGen; C1282975.
DR MeSH; D056728.
//
ID von Willebrand disease 3.
AC DI-02734
AR VWD3.
DE A severe hemorrhagic disorder due to a total or near total absence of
DE von Willebrand factor in the plasma and cellular compartments, also
DE leading to a profound deficiency of plasmatic factor VIII. Bleeding
DE usually starts in infancy and can include epistaxis, recurrent
DE mucocutaneous bleeding, excessive bleeding after minor trauma, and
DE hemarthroses.
SY von Willebrand disease recessive form.
SY von Willebrand disease type III.
SY von Willebrand factor deficiency type 3.
DR MIM; 277480; phenotype.
DR MedGen; C1264041.
DR MedGen; C1848525.
DR MeSH; D056729.
//
ID Vulto-van Silfout-de Vries syndrome.
AC DI-04122
AR VSVS.
DE An autosomal dominant disorder characterized by intellectual
DE disability, poor speech, motor delay, and autistic features. Most
DE patients have additional non-specific features, including hypotonia
DE and gait abnormalities, seizures, which may be refractory, high pain
DE threshold, and sleep disturbances.
SY IDDISBAS.
SY Intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures.
SY MRD24.
DR MIM; 615828; phenotype.
DR MedGen; CN219639.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Waardenburg syndrome 1.
AC DI-01133
AR WS1.
DE WS1 is an autosomal dominant disorder characterized by non-progressive
DE sensorineural deafness, pigmentary disturbances such as frontal white
DE blaze of hair, heterochromia of irides, white eyelashes, leukoderma,
DE and wide bridge of nose owing to lateral displacement of the inner
DE canthus of each eye (dystopia canthorum). WS1 shows variable clinical
DE expression and some affected individuals do not manifest hearing
DE impairment or iris pigmentation disturbances. Dystopia canthorum is
DE the most consistent sign and is found in 98% of the patients.
DR MIM; 193500; phenotype.
DR MedGen; C1847800.
DR MeSH; D014849.
KW KW-0897:Waardenburg syndrome.
//
ID Waardenburg syndrome 2A.
AC DI-01135
AR WS2A.
DE WS2 is a genetically heterogeneous, autosomal dominant disorder
DE characterized by sensorineural deafness, pigmentary disturbances, and
DE absence of dystopia canthorum. The frequency of deafness is higher in
DE WS2 than in WS1.
DR MIM; 193510; phenotype.
DR MedGen; C1860339.
DR MeSH; D014849.
KW KW-0897:Waardenburg syndrome.
//
ID Waardenburg syndrome 2D.
AC DI-01136
AR WS2D.
DE WS2 is a genetically heterogeneous, autosomal dominant disorder
DE characterized by sensorineural deafness, pigmentary disturbances, and
DE absence of dystopia canthorum. The frequency of deafness is higher in
DE WS2 than in WS1.
DR MIM; 608890; phenotype.
DR MedGen; C1837203.
DR MeSH; D014849.
KW KW-0897:Waardenburg syndrome.
//
ID Waardenburg syndrome 2E.
AC DI-01137
AR WS2E.
DE An autosomal dominant auditory-pigmentary disorder characterized by
DE sensorineural deafness, pigmentary disturbances of the hair, skin and
DE eyes, and absence of dystopia canthorum which is the lateral
DE displacement of the inner canthus of each eye. Individuals with WS2E
DE may have neurologic abnormalities, including mental impairment,
DE myelination defects, and ataxia. Some patients can manifest features
DE of Kallmann syndrome.
SY Hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation.
SY Kallmann syndrome and deafness with or without hypopigmentation.
SY Waardenburg syndrome type 2E with or without neurologic involvement.
SY Waardenburg syndrome type IIE.
SY WS2E with or without neurologic involvement.
DR MIM; 611584; phenotype.
DR MedGen; C2700405.
DR MedGen; CN069052.
DR MedGen; CN069053.
DR MeSH; D014849.
KW KW-0897:Waardenburg syndrome.
KW KW-0956:Kallmann syndrome.
//
ID Waardenburg syndrome 3.
AC DI-01138
AR WS3.
DE WS3 is an autosomal dominant disorder characterized by sensorineural
DE deafness, pigmentary disturbances, dystopia canthorum and limb
DE anomalies such as hypoplasia of the musculoskeletal system, flexion
DE contractures, fusion of the carpal bones, syndactylies.
SY Klein-Waardenburg syndrome.
SY Waardenburg syndrome with upper limb anomalies.
SY White forelock with malformations.
DR MIM; 148820; phenotype.
DR MedGen; C0079661.
DR MedGen; C0342680.
DR MeSH; D014849.
KW KW-0897:Waardenburg syndrome.
//
ID Waardenburg syndrome 4A.
AC DI-01139
AR WS4A.
DE A disorder characterized by the association of Waardenburg features
DE (depigmentation and deafness) with the absence of enteric ganglia in
DE the distal part of the intestine (Hirschsprung disease).
SY Hirschsprung disease with pigmentary anomaly.
SY Shah-Waardenburg syndrome.
SY Waardenburg-Shah syndrome.
SY Waardenburg syndrome type IVA.
SY Waardenburg syndrome with Hirschsprung disease type 4A.
DR MIM; 277580; phenotype.
DR MedGen; C1848519.
DR MeSH; D014849.
KW KW-0367:Hirschsprung disease.
KW KW-0897:Waardenburg syndrome.
//
ID Waardenburg syndrome 4B.
AC DI-02677
AR WS4B.
DE A disorder characterized by the association of Waardenburg features
DE (depigmentation and deafness) with the absence of enteric ganglia in
DE the distal part of the intestine (Hirschsprung disease).
SY Hirschsprung disease with pigmentary anomaly.
SY Shah-Waardenburg syndrome.
SY Waardenburg-Shah syndrome.
SY Waardenburg syndrome type IVB.
SY Waardenburg syndrome with Hirschsprung disease type 4B.
DR MIM; 613265; phenotype.
DR MedGen; C2750457.
DR MeSH; D014849.
KW KW-0367:Hirschsprung disease.
KW KW-0897:Waardenburg syndrome.
//
ID Waardenburg syndrome 4C.
AC DI-02676
AR WS4C.
DE A disorder characterized by the association of Waardenburg features
DE (depigmentation and deafness) with the absence of enteric ganglia in
DE the distal part of the intestine (Hirschsprung disease).
SY Hirschsprung disease with pigmentary anomaly.
SY Shah-Waardenburg syndrome.
SY Waardenburg-Shah syndrome.
SY Waardenburg syndrome type IVC.
SY Waardenburg syndrome with Hirschsprung disease type 4C.
DR MIM; 613266; phenotype.
DR MedGen; C2750452.
DR MeSH; D014849.
KW KW-0367:Hirschsprung disease.
KW KW-0897:Waardenburg syndrome.
//
ID Wagner vitreoretinopathy.
AC DI-02416
AR WGVRP.
DE A rare vitreoretinopathy characterized by an optically empty vitreous
DE cavity with fibrillary condensations and a preretinal avascular
DE membrane. Other optical features include progressive chorioretinal
DE atrophy, perivascular sheating, subcapsular cataract and myopia.
SY Erosive vitreoretinopathy.
SY ERVR.
SY Hyaloideoretinal degeneration of Wagner.
SY Wagner syndrome 1.
SY Wagner vitreoretinal degeneration.
SY WGN1.
DR MIM; 143200; phenotype.
DR MedGen; C0339540.
DR MedGen; C1840452.
DR MeSH; D012162.
//
ID Waisman syndrome.
AC DI-04321
AR WSMN.
DE A neurologic disorder characterized by delayed psychomotor
DE development, intellectual disability, and early-onset Parkinson
DE disease.
SY BGMR.
SY WSN.
DR MIM; 311510; phenotype.
DR MedGen; C0796195.
DR MeSH; D008607.
DR MeSH; D010300.
KW KW-0907:Parkinson disease.
KW KW-0991:Intellectual disability.
//
ID Warburg micro syndrome 1.
AC DI-02418
AR WARBM1.
DE A rare, autosomal recessive syndrome characterized by microcephaly,
DE microphthalmia, microcornia, congenital cataracts, optic atrophy,
DE cortical dysplasia, in particular corpus callosum hypoplasia, severe
DE intellectual disability, spastic diplegia, and hypogonadism.
SY Micro syndrome.
SY WARBM.
SY Warburg micro syndrome.
DR MIM; 600118; phenotype.
DR MedGen; C1838625.
DR MeSH; D000015.
//
ID Warburg micro syndrome 2.
AC DI-03228
AR WARBM2.
DE A rare syndrome characterized by microcephaly, microphthalmia,
DE microcornia, congenital cataracts, optic atrophy, cortical dysplasia,
DE in particular corpus callosum hypoplasia, severe intellectual
DE disability, spastic diplegia, and hypogonadism.
SY Micro syndrome 2.
DR MIM; 614225; phenotype.
DR MedGen; C3280214.
DR MeSH; D000015.
//
ID Warburg micro syndrome 3.
AC DI-03229
AR WARBM3.
DE A rare syndrome characterized by microcephaly, microphthalmia,
DE microcornia, congenital cataracts, optic atrophy, cortical dysplasia,
DE in particular corpus callosum hypoplasia, severe intellectual
DE disability, spastic diplegia, and hypogonadism.
SY Micro syndrome 3.
DR MIM; 614222; phenotype.
DR MedGen; C3280203.
DR MeSH; D000015.
//
ID Warburg micro syndrome 4.
AC DI-04041
AR WARBM4.
DE A form of Warburg micro syndrome, a rare syndrome characterized by
DE microcephaly, microphthalmia, microcornia, congenital cataracts, optic
DE atrophy, cortical dysplasia, in particular corpus callosum hypoplasia,
DE severe intellectual disability, spastic diplegia, and hypogonadism.
DR MIM; 615663; phenotype.
DR MedGen; C3810265.
DR MedGen; CN184728.
DR MeSH; D000015.
//
ID Warburg-Cinotti syndrome.
AC DI-05476
AR WRCN.
DE An autosomal dominant disease characterized by progressive corneal
DE neovascularization, keloid formation, chronic skin ulcers, wasting of
DE subcutaneous tissue, flexion contractures of the fingers, and acro-
DE osteolysis.
DR MIM; 618175; phenotype.
DR MedGen; CN263110.
DR MeSH; D000015.
//
ID Warfarin sensitivity, X-linked.
AC DI-05867
AR WARFS.
DE A condition characterized by sensitivity to warfarin, a drugs used as
DE anti-coagulants for the prevention of thromboembolic diseases in
DE subjects with deep vein thrombosis, atrial fibrillation, or mechanical
DE heart valve replacement. Warfarin sensitive individuals develop
DE bleeding complications when they are given warfarin within the
DE therapeutic ranges.
SY Coumarin sensitivity, X-linked.
DR MIM; 301052; phenotype.
DR MedGen; CN283288.
DR MeSH; D004351.
//
ID Warsaw breakage syndrome.
AC DI-02764
AR WBRS.
DE A syndrome characterized by severe microcephaly, pre- and postnatal
DE growth retardation, facial dysmorphism and abnormal skin pigmentation.
DE Additional features include high arched palate, coloboma of the right
DE optic disk, deafness, ventricular septal defect, toes and fingers
DE abnormalities. At cellular level, drug-induced chromosomal breakage, a
DE feature of Fanconi anemia, and sister chromatid cohesion defects, a
DE feature of Roberts syndrome, coexist.
DR MIM; 613398; phenotype.
DR MedGen; C3150658.
DR MeSH; D000015.
//
ID Watson syndrome.
AC DI-01140
AR WTSN.
DE A syndrome characterized by the presence of pulmonary stenosis, cafe-
DE au-lait spots, and intellectual disability. It is considered as an
DE atypical form of neurofibromatosis.
SY Pulmonary stenosis with cafe-au-lait spots.
DR MIM; 193520; phenotype.
DR MedGen; C0553586.
DR MeSH; D009456.
//
ID Weaver syndrome.
AC DI-01141
AR WVS.
DE A syndrome of accelerated growth and osseous maturation, unusual
DE craniofacial appearance, hoarse and low-pitched cry, and hypertonia
DE with camptodactyly. Distinguishing features of Weaver syndrome include
DE broad forehead and face, ocular hypertelorism, prominent wide
DE philtrum, micrognathia, deep horizontal chin groove, and deep-set
DE nails. In addition, carpal bone development is advanced over the rest
DE of the hand.
SY Weaver-Smith syndrome.
SY Weaver syndrome 1.
SY Weaver syndrome 2.
SY WSS.
SY WVS1.
SY WVS2.
DR MIM; 277590; phenotype.
DR MedGen; C0220765.
DR MedGen; C0265210.
DR MeSH; D006130.
//
ID Webb-Dattani syndrome.
AC DI-04175
AR WEDAS.
DE A disorder characterized by postnatal microcephaly with fronto-
DE temporal lobe hypoplasia, multiple pituitary hormone deficiency,
DE global developmental delay, seizures, severe visual impairment and
DE abnormalities of the kidneys and urinary tract.
SY Hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies.
DR MIM; 615926; phenotype.
DR MedGen; CN207526.
DR MeSH; D007018.
DR MeSH; D008831.
//
ID Weill-Marchesani syndrome 1.
AC DI-01143
AR WMS1.
DE A rare connective tissue disorder characterized by short stature,
DE brachydactyly, joint stiffness, and eye abnormalities including
DE microspherophakia, ectopia lentis, severe myopia and glaucoma.
SY Autosomal recessive Weill-Marchesani syndrome.
SY Congenital mesodermal dysmorphodystrophy.
SY Spherophakia-brachymorphia syndrome.
DR MIM; 277600; phenotype.
DR MedGen; C1869114.
DR MeSH; D056846.
KW KW-0242:Dwarfism.
//
ID Weill-Marchesani syndrome 2.
AC DI-01142
AR WMS2.
DE A rare connective tissue disorder characterized by short stature,
DE brachydactyly, joint stiffness, and eye abnormalities including
DE microspherophakia, ectopia lentis, severe myopia and glaucoma.
SY Autosomal dominant Weill-Marchesani syndrome.
SY Congenital mesodermal dysmorphodystrophy.
SY GEMSS.
SY Glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome.
SY Spherophakia-brachymorphia syndrome.
DR MIM; 608328; phenotype.
DR MedGen; C1869115.
DR MeSH; D056846.
KW KW-0242:Dwarfism.
//
ID Weill-Marchesani syndrome 3.
AC DI-03526
AR WMS3.
DE A rare connective tissue disorder characterized by short stature,
DE brachydactyly, joint stiffness, and eye abnormalities including
DE microspherophakia, ectopia lentis, severe myopia and glaucoma.
DR MIM; 614819; phenotype.
DR MedGen; C3553785.
DR MedGen; CN143721.
DR MeSH; D056846.
KW KW-0242:Dwarfism.
//
ID Weill-Marchesani syndrome 4.
AC DI-02827
AR WMS4.
DE An autosomal recessive syndrome characterized by lenticular myopia,
DE ectopia lentis, glaucoma, spherophakia and short stature.
DE Brachydactyly and decreased joint flexibility are present in some
DE patients.
SY Weill-Marchesani-like syndrome.
SY WMSL.
DR MIM; 613195; phenotype.
DR MedGen; C2750787.
DR MeSH; D004392.
DR MeSH; D015785.
KW KW-0242:Dwarfism.
//
ID Weiss-Kruszka syndrome.
AC DI-05675
AR WSKA.
DE An autosomal dominant, multiple congenital anomaly syndrome with
DE variable expressivity and complete penetrance. Patients manifest
DE developmental delay, hypotonia, feeding difficulties, craniofacial
DE abnormalities including ptosis, abnormal head shape, downslanting
DE palpebral fissures, metopic ridging, and craniosynostosis. Variable
DE congenital heart defects can be observed in some patients. A few
DE patients show agenesis of the corpus callosum on brain imaging.
DR MIM; 618619; phenotype.
DR MedGen; CN262386.
DR MeSH; D000015.
//
ID Welander distal myopathy.
AC DI-03766
AR WDM.
DE An autosomal dominant disorder characterized by adult onset of distal
DE muscle weakness predominantly affecting the distal long extensors of
DE the hands, with slow progression to involve all small hand muscles and
DE the lower legs. Skeletal muscle biopsy shows myopathic changes and
DE prominent rimmed vacuoles. Rare homozygous patients showed earlier
DE onset, faster progression, and proximal muscle involvement.
SY Late-onset autosomal dominant distal muscular dystrophy.
SY Swedish distal myopathy.
DR MIM; 604454; phenotype.
DR MedGen; C0221054.
DR MeSH; D049310.
//
ID Werner syndrome.
AC DI-01145
AR WRN.
DE A rare autosomal recessive progeroid syndrome characterized by the
DE premature onset of multiple age-related disorders, including
DE atherosclerosis, cancer, non-insulin-dependent diabetes mellitus,
DE ocular cataracts and osteoporosis. The major cause of death, at a
DE median age of 47, is myocardial infarction.
DR MIM; 277700; phenotype.
DR MedGen; C0043119.
DR MeSH; D014898.
//
ID WHIM syndrome 1.
AC DI-02419
AR WHIMS1.
DE An autosomal dominant immunologic disease characterized by
DE neutropenia, hypogammaglobulinemia and extensive human papillomavirus
DE (HPV) infection. Despite the peripheral neutropenia, bone marrow
DE aspirates from affected individuals contain abundant mature myeloid
DE cells, a condition termed myelokathexis.
SY Warts, hypogammaglobulinemia, infections and myelokathexis syndrome 1.
SY WHIMS.
DR MIM; 193670; phenotype.
DR MedGen; C0472817.
DR MeSH; D000081207.
//
ID WHIM syndrome 2.
AC DI-06160
AR WHIMS2.
DE An autosomal recessive form of WHIM syndrome, a primary
DE immunodeficiency disorder characterized by warts,
DE hypogammaglobulinemia, infections, and myelokathexis. Myelokathexis is
DE a unique form of non-cyclic severe congenital neutropenia caused by
DE accumulation of mature and degenerating neutrophils in the bone
DE marrow. Monocytopenia and lymphopenia, especially B lymphopenia, also
DE commonly occur. There is significant phenotypic variation among
DE patients, such that some individuals may have an incomplete form of
DE the disorder in which one or more of the classic tetrad features are
DE not present.
SY Warts, hypogammaglobulinemia, infections, and myelokathexis 2.
DR MIM; 619407; phenotype.
DR MedGen; CN299632.
DR MeSH; D000081207.
//
ID White sponge nevus 1.
AC DI-02420
AR WSN1.
DE A rare disorder characterized by the presence of soft, white, and
DE spongy plaques in the oral mucosa. The characteristic histopathologic
DE features are epithelial thickening, parakeratosis, and vacuolization
DE of the suprabasal layer of oral epithelial keratinocytes. Less
DE frequently the mucous membranes of the nose, esophagus, genitalia and
DE rectum are involved.
SY Hereditary mucosal leukokeratosis.
SY White sponge nevus of Cannon.
DR MIM; 193900; phenotype.
DR MedGen; C1721005.
DR MeSH; D053529.
//
ID White sponge nevus 2.
AC DI-04113
AR WSN2.
DE A rare disorder characterized by the presence of soft, white, and
DE spongy plaques in the oral mucosa. The characteristic histopathologic
DE features are epithelial thickening, parakeratosis, and vacuolization
DE of the suprabasal layer of oral epithelial keratinocytes. Less
DE frequently the mucous membranes of the nose, esophagus, genitalia and
DE rectum are involved.
DR MIM; 615785; phenotype.
DR MedGen; CN187048.
DR MeSH; D053529.
//
ID White-Kernohan syndrome.
AC DI-06165
AR WHIKERS.
DE An autosomal dominant disorder characterized by global developmental
DE delay, variably impaired intellectual development, hypotonia, and
DE characteristic facial features. Some patients may have genitourinary
DE and skeletal abnormalities.
SY Global developmental delay, hypotonia, and characteristic facial features.
DR MIM; 619426; phenotype.
DR MedGen; CN299973.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID White-Sutton syndrome.
AC DI-04421
AR WHSUS.
DE An autosomal dominant syndrome characterized by developmental delay,
DE intellectual disability, hypotonia, behavioral abnormalities, and
DE dysmorphic facial features. Variable features include short stature,
DE microcephaly, strabismus and hearing loss.
SY MRD37.
DR MIM; 616364; phenotype.
DR MedGen; CN230318.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Wieacker-Wolf syndrome.
AC DI-03791
AR WRWF.
DE A severe X-linked recessive neurodevelopmental disorder affecting the
DE central and peripheral nervous systems. It is characterized by onset
DE of muscle weakness in utero (fetal akinesia). Affected boys are born
DE with severe contractures, known as arthrogryposis, and have delayed
DE motor development, facial and bulbar weakness, characteristic
DE dysmorphic facial features, and skeletal abnormalities, such as hip
DE dislocation, scoliosis, and pes equinovarus. Those that survive
DE infancy show intellectual disability. Carrier females may have mild
DE features of the disorder.
SY Contractures of feet, muscle atrophy, and oculomotor apraxia.
SY MCS.
SY MRXS4.
SY Oculomotor apraxia with congenital contractures and muscle atrophy.
SY Wieacker syndrome.
DR MIM; 314580; phenotype.
DR MedGen; C0796200.
DR MeSH; D001072.
DR MeSH; D003286.
DR MeSH; D009133.
DR MeSH; D009886.
KW KW-0991:Intellectual disability.
//
ID Wieacker-Wolff syndrome, female-restricted.
AC DI-05800
AR WRWFFR.
DE An X-linked dominant neurodevelopmental disorder affecting the central
DE and peripheral nervous systems. It is characterized by onset of muscle
DE weakness in utero resulting in fetal akinesia, arthrogryposis
DE multiplex congenita and diffuse contractures apparent at birth, global
DE developmental delay with difficulty walking or inability to walk,
DE hypotonia, variably impaired intellectual development, poor or absent
DE speech and language, and dysmorphic features.
DR MIM; 301041; phenotype.
DR MedGen; CN272919.
DR MeSH; D001072.
DR MeSH; D003286.
DR MeSH; D009133.
DR MeSH; D009886.
KW KW-0991:Intellectual disability.
//
ID Wiedemann-Rautenstrauch syndrome.
AC DI-05494
AR WDRTS.
DE An autosomal recessive, neonatal progeroid disorder characterized by
DE intrauterine growth retardation, failure to thrive, short stature,
DE hypotonia, variable mental impairment, and a progeroid appearance.
DE Clinical features include apparent macrocephaly, sparse hair,
DE prominent scalp veins, entropion, greatly widened anterior
DE fontanelles, malar hypoplasia, and generalized lipoatrophy. Death
DE usually occurs in early childhood but survival to third decade has
DE been reported.
SY Progeroid syndrome, neonatal.
DR MIM; 264090; phenotype.
DR MedGen; C0406586.
DR MeSH; D005317.
DR MeSH; D011371.
//
ID Wiedemann-Steiner syndrome.
AC DI-03533
AR WDSTS.
DE A syndrome characterized by hairy elbows (hypertrichosis cubiti),
DE intellectual disability, a distinctive facial appearance, and short
DE stature. Facial characteristics include long eyelashes, thick or
DE arched eyebrows with a lateral flare, and downslanting and vertically
DE narrow palpebral fissures.
SY Hairy elbows short stature facial dysmorphism and developmental delay.
SY Hypertrichosis cubiti facial dysmorphism and developmental delay.
SY WSS.
DR MIM; 605130; phenotype.
DR MedGen; C1854630.
DR MeSH; D006983.
//
ID Wilms tumor 1.
AC DI-02421
AR WT1.
DE Embryonal malignancy of the kidney that affects approximately 1 in
DE 10'000 infants and young children. It occurs both in sporadic and
DE hereditary forms.
DR MIM; 194070; phenotype.
DR MedGen; C0027708.
//
ID Wilms tumor 6.
AC DI-04647
AR WT6.
DE A pediatric malignancy of kidney, and the most common childhood
DE abdominal malignancy. It is caused by the uncontrolled multiplication
DE of renal stem, stromal, and epithelial cells.
SY Susceptibility to Wilms tumor 6.
SY Wilms tumor, susceptibility to.
SY Wilms tumor 6, susceptibility to.
DR MIM; 616806; phenotype.
DR MedGen; CN235182.
DR MeSH; D009396.
//
ID Wilson disease.
AC DI-01146
AR WD.
DE An autosomal recessive disorder of copper metabolism in which copper
DE cannot be incorporated into ceruloplasmin in liver, and cannot be
DE excreted from the liver into the bile. Copper accumulates in the liver
DE and subsequently in the brain and kidney. The disease is characterized
DE by neurologic manifestations and signs of cirrhosis.
SY Hepatolenticular degeneration.
DR MIM; 277900; phenotype.
DR MedGen; C0019202.
DR MeSH; D006527.
//
ID Winchester syndrome.
AC DI-03898
AR WNCHRS.
DE A disease characterized by severe osteolysis in the hands and feet,
DE generalized osteoporosis, bone thinning, and absence of subcutaneous
DE nodules. Various additional features include coarse face, corneal
DE opacities, gum hypertrophy, and EKG changes.
DR MIM; 277950; phenotype.
DR MedGen; C0432289.
DR MeSH; D010014.
DR MeSH; D010024.
//
ID Wiskott-Aldrich syndrome.
AC DI-01147
AR WAS.
DE An X-linked recessive immunodeficiency characterized by eczema,
DE thrombocytopenia, recurrent infections, and bloody diarrhea. Death
DE usually occurs before age 10.
SY Aldrich syndrome.
SY Eczema-thrombocytopenia-immunodeficiency syndrome.
SY IMD2.
SY Immunodeficiency 2.
SY WAS1.
SY Wiskott-Aldrich syndrome 1.
DR MIM; 301000; phenotype.
DR MedGen; C0043194.
DR MeSH; D014923.
//
ID Wiskott-Aldrich syndrome 2.
AC DI-03385
AR WAS2.
DE An immunodeficiency disorder characterized by eczema,
DE thrombocytopenia, recurrent infections, defective T-cell
DE proliferation, and impaired natural killer cell function.
SY WIPF1 deficiency.
DR MIM; 614493; phenotype.
DR MedGen; C3281001.
DR MeSH; D014923.
//
ID Witteveen-Kolk syndrome.
AC DI-05538
AR WITKOS.
DE An autosomal dominant syndrome characterized by global developmental
DE delay, mild to severe intellectual disability, and facial dysmorphism.
DE Additional features include short stature, microcephaly, joint
DE hypermotility, and small hands and feet with digital abnormalities.
DE Brain imaging shows dilated ventricles, thin corpus callosum and, in
DE some cases, dysgyria or polymicrogyria.
DR MIM; 613406; phenotype.
DR MedGen; C4310804.
DR MeSH; D000015.
KW KW-0242:Dwarfism.
KW KW-0991:Intellectual disability.
//
ID Wolcott-Rallison syndrome.
AC DI-01149
AR WRS.
DE A rare autosomal recessive disorder, characterized by permanent
DE neonatal or early infancy insulin-dependent diabetes and, at a later
DE age, epiphyseal dysplasia, osteoporosis, growth retardation and other
DE multisystem manifestations, such as hepatic and renal dysfunctions,
DE intellectual disability and cardiovascular abnormalities.
SY IDDM-MED syndrome.
SY MED-IDDM syndrome.
SY Multiple epiphyseal dysplasia with early-onset diabetes mellitus.
DR MIM; 226980; phenotype.
DR MedGen; C0432217.
DR MeSH; D010009.
//
ID Wolff-Parkinson-White syndrome.
AC DI-01150
AR WPWS.
DE A supernormal conduction disorder characterized by the presence of one
DE or several accessory atrioventricular connections, which can lead to
DE episodes of sporadic tachycardia.
SY Ventricular familial preexcitation syndrome.
DR MIM; 194200; phenotype.
DR MedGen; C0032915.
DR MedGen; C0043202.
DR MeSH; D014927.
//
ID Wolfram syndrome 1.
AC DI-01151
AR WFS1.
DE A rare disorder characterized by juvenile-onset insulin-dependent
DE diabetes mellitus with optic atrophy. Other manifestations include
DE diabetes insipidus, sensorineural deafness, dementia, psychiatric
DE illnesses.
SY Diabetes insipidus and mellitus with optic atrophy and deafness syndrome.
SY DIDMOAD.
SY WFS.
DR MIM; 222300; phenotype.
DR MedGen; C0043207.
DR MeSH; D014929.
KW KW-0209:Deafness.
KW KW-0219:Diabetes mellitus.
//
ID Wolfram syndrome 2.
AC DI-02423
AR WFS2.
DE A rare disorder characterized by juvenile-onset insulin-dependent
DE diabetes mellitus with optic atrophy. Other manifestations include
DE diabetes insipidus, sensorineural deafness, dementia, psychiatric
DE illnesses. WFS2 patients additionally show a strong bleeding tendency
DE and gastrointestinal ulceration. Diabetes insipidus may be absent.
DR MIM; 604928; phenotype.
DR MedGen; C1858028.
DR MeSH; D014929.
KW KW-0209:Deafness.
KW KW-0219:Diabetes mellitus.
//
ID Wolfram-like syndrome autosomal dominant.
AC DI-03292
AR WFSL.
DE A disease characterized by the clinical triad of congenital
DE progressive hearing impairment, diabetes mellitus, and optic atrophy.
DE The hearing impairment, which is usually diagnosed in the first decade
DE of life, is relatively constant and alters mainly low- and middle-
DE frequency ranges.
SY Hearing loss progressive with optic atrophy and/or impaired glucose regulation.
DR MIM; 614296; phenotype.
DR MedGen; C3280358.
DR MeSH; D014929.
KW KW-0209:Deafness.
KW KW-0219:Diabetes mellitus.
//
ID Wolman disease.
AC DI-01152
AR WOD.
DE A severe manifestation of LIPA deficiency, leading to the accumulation
DE of cholesteryl esters and triglycerides in most tissues of the body.
DE WD occurs in infancy and is nearly always fatal before the age of 1
DE year.
SY LIPA deficiency.
DR MIM; 278000; phenotype.
DR MedGen; C0043208.
DR MedGen; CN198868.
DR MeSH; D015223.
//
ID Woodhouse-Sakati syndrome.
AC DI-02424
AR WDSKS.
DE A rare autosomal recessive disorder characterized by hypogonadism,
DE alopecia, diabetes mellitus, intellectual disability, and
DE extrapyramidal syndrome.
DR MIM; 241080; phenotype.
DR MedGen; C0342286.
KW KW-0209:Deafness.
KW KW-0219:Diabetes mellitus.
KW KW-0991:Intellectual disability.
KW KW-1063:Hypotrichosis.
//
ID Woolly hair autosomal dominant.
AC DI-02722
AR ADWH.
DE A hair shaft disorder characterized by fine and tightly curled hair.
DE Compared to normal curly hair that is observed in some populations,
DE woolly hair grows slowly and stops growing after a few inches. Under
DE light microscopy, woolly hair shows some structural anomalies,
DE including trichorrhexis nodosa and tapered ends.
DR MIM; 194300; phenotype.
DR MedGen; C1860238.
DR MeSH; D006201.
//
ID Woolly hair autosomal recessive 1 with or without hypotrichosis.
AC DI-01263
AR ARWH1.
DE A hair shaft disorder characterized by fine and tightly curled hair.
DE Compared to normal curly hair that is observed in some populations,
DE woolly hair grows slowly and stops growing after a few inches. Under
DE light microscopy, woolly hair shows some structural anomalies,
DE including trichorrhexis nodosa and tapered ends. Some individuals
DE exhibit features of hypotrichosis.
DR MIM; 278150; phenotype.
DR MedGen; C3279470.
DR MeSH; D006201.
//
ID Woolly hair autosomal recessive 2.
AC DI-02723
AR ARWH2.
DE A hair shaft disorder characterized by fine and tightly curled hair.
DE Compared to normal curly hair that is observed in some populations,
DE woolly hair grows slowly and stops growing after a few inches. Under
DE light microscopy, woolly hair shows some structural anomalies,
DE including trichorrhexis nodosa and tapered ends. Some individuals may
DE present with hypotrichosis.
SY WH/HT.
SY Woolly hair autosomal recessive 2 with or without hypotrichosis.
DR MIM; 604379; phenotype.
DR MedGen; C3148823.
DR MedGen; C3148824.
DR MeSH; D006201.
//
ID Woolly hair autosomal recessive 3.
AC DI-04638
AR ARWH3.
DE A hair shaft disorder characterized by fine and tightly curled hair.
DE Compared to normal curly hair that is observed in some populations,
DE woolly hair grows slowly and stops growing after a few inches. Under
DE light microscopy, woolly hair shows some structural anomalies,
DE including trichorrhexis nodosa and tapered ends. Some individuals may
DE present with hypotrichosis.
SY Woolly hair, autosomal recessive 3, with hypotrichosis.
DR MIM; 616760; phenotype.
DR MedGen; CN234890.
DR MeSH; D006201.
KW KW-1063:Hypotrichosis.
//
ID Wrinkly skin syndrome.
AC DI-02425
AR WSS.
DE A rare autosomal recessive disorder characterized by wrinkling of the
DE skin of the dorsum of the hands and feet, an increased number of
DE palmar and plantar creases, wrinkled abdominal skin, multiple
DE musculoskeletal abnormalities, microcephaly, growth failure and
DE developmental delay.
DR MIM; 278250; phenotype.
DR MedGen; C0406587.
DR MeSH; D003483.
//
ID X-linked agammaglobulinemia.
AC DI-02427
AR XLA.
DE Humoral immunodeficiency disease which results in developmental
DE defects in the maturation pathway of B-cells. Affected boys have
DE normal levels of pre-B-cells in their bone marrow but virtually no
DE circulating mature B-lymphocytes. This results in a lack of
DE immunoglobulins of all classes and leads to recurrent bacterial
DE infections like otitis, conjunctivitis, dermatitis, sinusitis in the
DE first few years of life, or even some patients present overwhelming
DE sepsis or meningitis, resulting in death in a few hours. Treatment in
DE most cases is by infusion of intravenous immunoglobulin.
SY AGMX1.
SY IMD1.
SY Immunodeficiency type 1.
SY X-linked agammaglobulinemia type 1.
DR MIM; 300755; phenotype.
DR MedGen; C0221026.
DR MedGen; C0241932.
//
ID X-linked combined immunodeficiency.
AC DI-02437
AR XCID.
DE Less severe form of X-linked immunodeficiency with a less severe
DE degree of deficiency in cellular and humoral immunity than that seen
DE in XSCID.
DR MIM; 312863; phenotype.
DR MedGen; C1706416.
//
ID X-linked dyserythropoietic anemia and thrombocytopenia.
AC DI-02443
AR XDAT.
DE Disorder characterized by erythrocytes with abnormal size and shape,
DE and paucity of platelets in peripheral blood. The bone marrow contains
DE abundant and abnormally small megakaryocytes.
DR MIM; 300367; phenotype.
DR MedGen; C1845837.
DR MedGen; C1845838.
DR MedGen; C3550789.
//
ID Xanthinuria 1.
AC DI-01153
AR XAN1.
DE A disorder characterized by excretion of very large amounts of
DE xanthine in the urine and a tendency to form xanthine stones. Uric
DE acid is strikingly diminished in serum and urine. XAN1 is due to
DE isolated xanthine dehydrogenase deficiency. Patients can metabolize
DE allopurinol.
SY Xanthic urolithiasis.
SY Xanthine dehydrogenase deficiency.
SY Xanthine oxidase deficiency.
SY XDH deficiency.
DR MIM; 278300; phenotype.
DR MedGen; C0268118.
DR MeSH; D011686.
DR MeSH; D052878.
//
ID Xanthinuria 2.
AC DI-01154
AR XAN2.
DE A disorder characterized by excretion of very large amounts of
DE xanthine in the urine and a tendency to form xanthine stones. Uric
DE acid is strikingly diminished in serum and urine. In addition, XAN2
DE patients cannot metabolize allopurinol into oxypurinol due to dual
DE deficiency of xanthine dehydrogenase and aldehyde oxidase.
SY Combined deficiency of xanthine dehydrogenase and aldehyde oxidase.
SY Xanthic urolithiasis.
DR MIM; 603592; phenotype.
DR MedGen; C1863688.
DR MeSH; D008661.
DR MeSH; D052878.
//
ID Xeroderma pigmentosum complementation group A.
AC DI-01155
AR XP-A.
DE An autosomal recessive pigmentary skin disorder characterized by solar
DE hypersensitivity of the skin, high predisposition for developing
DE cancers on areas exposed to sunlight and, in some cases, neurological
DE abnormalities. The skin develops marked freckling and other
DE pigmentation abnormalities. XP-A patients show the most severe skin
DE symptoms and progressive neurological disorders.
SY Xeroderma pigmentosum I.
SY XP1.
SY XP group A.
DR MIM; 278700; phenotype.
DR MedGen; CN068460.
DR MeSH; D014983.
KW KW-0857:Xeroderma pigmentosum.
//
ID Xeroderma pigmentosum complementation group B.
AC DI-01156
AR XP-B.
DE An autosomal recessive pigmentary skin disorder characterized by solar
DE hypersensitivity of the skin, high predisposition for developing
DE cancers on areas exposed to sunlight and, in some cases, neurological
DE abnormalities. The skin develops marked freckling and other
DE pigmentation abnormalities. Some XP-B patients present features of
DE Cockayne syndrome, including cachectic dwarfism, pigmentary
DE retinopathy, ataxia, decreased nerve conduction velocities. The
DE phenotype combining xeroderma pigmentosum and Cockayne syndrome traits
DE is referred to as XP-CS complex.
SY Xeroderma pigmentosum group B with Cockayne syndrome.
SY Xeroderma pigmentosum II.
SY XP2.
SY XP-B/CS.
SY XP group B.
DR MIM; 610651; phenotype.
DR MedGen; C0268136.
DR MedGen; C1970808.
DR MeSH; D014983.
KW KW-0172:Cockayne syndrome.
KW KW-0857:Xeroderma pigmentosum.
//
ID Xeroderma pigmentosum complementation group C.
AC DI-01157
AR XP-C.
DE An autosomal recessive pigmentary skin disorder characterized by solar
DE hypersensitivity of the skin, high predisposition for developing
DE cancers on areas exposed to sunlight and, in some cases, neurological
DE abnormalities. The skin develops marked freckling and other
DE pigmentation abnormalities.
SY Xeroderma pigmentosum III.
SY XP3.
SY XPC.
SY XPCC.
SY XP group C.
DR MIM; 278720; phenotype.
DR MedGen; C2752147.
DR MeSH; D014983.
KW KW-0857:Xeroderma pigmentosum.
//
ID Xeroderma pigmentosum complementation group D.
AC DI-01158
AR XP-D.
DE An autosomal recessive pigmentary skin disorder characterized by solar
DE hypersensitivity of the skin, high predisposition for developing
DE cancers on areas exposed to sunlight and, in some cases, neurological
DE abnormalities. The skin develops marked freckling and other
DE pigmentation abnormalities. Some XP-D patients present features of
DE Cockayne syndrome, including cachectic dwarfism, pigmentary
DE retinopathy, ataxia, decreased nerve conduction velocities. The
DE phenotype combining xeroderma pigmentosum and Cockayne syndrome traits
DE is referred to as XP-CS complex.
SY Xeroderma pigmentosum IV.
SY Xeroderma pigmentosum VIII.
SY XP4.
SY XP8.
SY XP-D/CS.
SY XPDC.
SY XP group D.
SY XP group H.
SY XPH.
DR MIM; 278730; phenotype.
DR MedGen; C0268138.
DR MedGen; C1848412.
DR MedGen; C1848413.
DR MedGen; C1848414.
DR MedGen; C1848415.
DR MeSH; D014983.
KW KW-0172:Cockayne syndrome.
KW KW-0857:Xeroderma pigmentosum.
//
ID Xeroderma pigmentosum complementation group E.
AC DI-01159
AR XP-E.
DE An autosomal recessive pigmentary skin disorder characterized by solar
DE hypersensitivity of the skin, high predisposition for developing
DE cancers on areas exposed to sunlight and, in some cases, neurological
DE abnormalities. The skin develops marked freckling and other
DE pigmentation abnormalities. XP-E patients show a mild phenotype with
DE minimal or no neurologic features.
SY Xeroderma pigmentosum V.
SY XP5.
SY XP group E.
DR MIM; 278740; phenotype.
DR MedGen; C1848411.
DR MeSH; D014983.
KW KW-0857:Xeroderma pigmentosum.
//
ID Xeroderma pigmentosum complementation group F.
AC DI-01160
AR XP-F.
DE An autosomal recessive pigmentary skin disorder characterized by solar
DE hypersensitivity of the skin, high predisposition for developing
DE cancers on areas exposed to sunlight and, in some cases, neurological
DE abnormalities. The skin develops marked freckling and other
DE pigmentation abnormalities. XP-F patients show a mild phenotype.
SY Xeroderma pigmentosum VI.
SY XP6.
SY XP group F.
DR MIM; 278760; phenotype.
DR MedGen; C0268140.
DR MeSH; D014983.
KW KW-0857:Xeroderma pigmentosum.
//
ID Xeroderma pigmentosum complementation group G.
AC DI-01161
AR XP-G.
DE An autosomal recessive pigmentary skin disorder characterized by solar
DE hypersensitivity of the skin, high predisposition for developing
DE cancers on areas exposed to sunlight and, in some cases, neurological
DE abnormalities. The skin develops marked freckling and other
DE pigmentation abnormalities. Some XP-G patients present features of
DE Cockayne syndrome, cachectic dwarfism, pigmentary retinopathy, ataxia,
DE decreased nerve conduction velocities. The phenotype combining
DE xeroderma pigmentosum and Cockayne syndrome traits is referred to as
DE XP-CS complex.
SY Xeroderma pigmentosum VII.
SY XP7.
SY XP-G/CS.
SY XP group G.
DR MIM; 278780; phenotype.
DR MedGen; C0268141.
DR MedGen; C1851443.
DR MedGen; C1968561.
DR MeSH; D014983.
KW KW-0172:Cockayne syndrome.
KW KW-0857:Xeroderma pigmentosum.
//
ID Xeroderma pigmentosum type F/Cockayne syndrome.
AC DI-03805
AR XPF/CS.
DE A variant form of Cockayne syndrome, a disorder characterized by
DE growth retardation, microcephaly, impairment of nervous system
DE development, pigmentary retinopathy, peculiar facies, and progeria
DE together with abnormal skin photosensitivity. Cockayne syndrome
DE dermatological features are milder than those in xeroderma pigmentosum
DE and skin cancers are not found in affected individuals. XPF/CS
DE patients, however, present with severe skin phenotypes, including
DE severe photosensitivity, abnormal skin pigmentation, and skin cancer
DE predisposition.
DR MIM; 278760; phenotype.
DR MedGen; C3806565.
DR MedGen; CN177726.
DR MeSH; D003057.
DR MeSH; D014983.
KW KW-0172:Cockayne syndrome.
KW KW-0857:Xeroderma pigmentosum.
//
ID Xeroderma pigmentosum variant type.
AC DI-01162
AR XPV.
DE An autosomal recessive pigmentary skin disorder characterized by solar
DE hypersensitivity of the skin, high predisposition for developing
DE cancers on areas exposed to sunlight and, in some cases, neurological
DE abnormalities. XPV shows normal nucleotide excision repair, but an
DE exaggerated delay in recovery of replicative DNA synthesis. Most
DE patients with the variant type of xeroderma pigmentosum do not develop
DE clinical symptoms and skin neoplasias until a later age. Clinical
DE manifestations are limited to photo-induced deterioration of the skin
DE and eyes.
SY Xeroderma pigmentosum with normal DNA repair rates.
DR MIM; 278750; phenotype.
DR MedGen; C1848410.
DR MeSH; D014983.
KW KW-0857:Xeroderma pigmentosum.
//
ID XFE progeroid syndrome.
AC DI-02464
AR XFEPS.
DE A syndrome characterized by aged bird-like facies, lack of
DE subcutaneous fat, dwarfism, cachexia and microcephaly. Additional
DE features include sun-sensitivity from birth, learning disabilities,
DE hearing loss, and visual impairment.
SY XPF-ERCC1 progeroid syndrome.
DR MIM; 610965; phenotype.
DR MedGen; C1970416.
DR MeSH; D049914.
KW KW-0242:Dwarfism.
//
ID Xia-Gibbs syndrome.
AC DI-04125
AR XIGIS.
DE An autosomal dominant disorder characterized by intellectual
DE disability, mild dysmorphism, hypotonia, delayed psychomotor
DE development with absent or poor expressive language, hypoplasia of the
DE corpus callosum, simplified gyral pattern, and delayed myelination.
SY MRD25.
DR MIM; 615829; phenotype.
DR MedGen; CN188260.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Yao syndrome.
AC DI-04941
AR YAOS.
DE An autoinflammatory disease characterized by periodic fever,
DE dermatitis, polyarthritis, leg swelling, and gastrointestinal and
DE sicca-like symptoms. YAOS is a complex disease with multifactorial
DE inheritance.
DR MIM; 617321; phenotype.
DR MedGen; CN240388.
DR MeSH; D056660.
//
ID Yemenite deaf-blind hypopigmentation syndrome.
AC DI-02466
AR YDBHS.
DE A disorder characterized by cutaneous hypopigmented and hyperpigmented
DE spots and patches, microcornea, coloboma and severe hearing loss.
DR MIM; 601706; phenotype.
DR MedGen; C1866425.
DR MeSH; D001766.
DR MeSH; D003638.
DR MeSH; D017496.
KW KW-0209:Deafness.
//
ID Yoon-Bellen neurodevelopmental syndrome.
AC DI-06316
AR YOBELN.
DE An autosomal recessive disorder characterized by global developmental
DE delay, and variably impaired intellectual development. Additional
DE variable features may include hypotonia, spasticity, ataxia, hearing
DE loss, visual problems, seizures, and non-specific anomalies on brain
DE imaging.
DR MIM; 619701; phenotype.
DR MedGen; CN305922.
DR MeSH; D065886.
KW KW-0991:Intellectual disability.
//
ID You-Hoover-Fong syndrome.
AC DI-04744
AR YHFS.
DE A syndrome characterized by severe global developmental delay,
DE intellectual disability, dysmorphic facial features, microcephaly,
DE abnormal movements, congenital heart disease comprising developmental
DE abnormalities of the great vessels, and abnormal auditory and visual
DE function. The transmission pattern is consistent with autosomal
DE recessive inheritance.
DR MIM; 616954; phenotype.
DR MedGen; CN236793.
DR MeSH; D000015.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
ID Yunis-Varon syndrome.
AC DI-03789
AR YVS.
DE A severe autosomal recessive disorder characterized by skeletal
DE defects, including cleidocranial dysplasia and digital anomalies, and
DE severe neurologic involvement with neuronal loss. Enlarged cytoplasmic
DE vacuoles are found in neurons, muscle, and cartilage. The disorder is
DE usually lethal in infancy.
SY Cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia.
DR MIM; 216340; phenotype.
DR MedGen; C1857663.
DR MeSH; D002973.
DR MeSH; D008844.
DR MeSH; D017880.
//
ID Zaki syndrome.
AC DI-06290
AR ZKS.
DE An autosomal recessive disorder characterized by developmental delay,
DE progressive microcephaly, and short stature, as well as dysmorphic
DE features including sparse scalp hair, cupped ears, wide nose and
DE mouth, short philtrum, and high-arched palate. Other variable features
DE have been observed, including ocular, skeletal, cardiac, and renal
DE anomalies.
DR MIM; 619648; phenotype.
DR MedGen; CN305088.
DR MeSH; D000015.
//
ID Zimmermann-Laband syndrome 1.
AC DI-04477
AR ZLS1.
DE A form of Zimmermann-Laband syndrome, a rare developmental disorder
DE characterized by facial dysmorphism with bulbous nose and thick floppy
DE ears, gingival enlargement, hypoplasia or aplasia of terminal
DE phalanges and nails, hypertrichosis, joint hyperextensibility, and
DE hepatosplenomegaly. Some patients manifest intellectual disability
DE with or without epilepsy. ZLS1 inheritance is autosomal dominant.
SY Fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly.
SY Gingival fibromatosis, abnormal fingers, fingernails, nose and ears and splenomegaly.
SY Laband syndrome.
SY Zimmermann Laband syndrome.
DR MIM; 135500; phenotype.
DR MedGen; C0796013.
DR MeSH; D000015.
//
ID Zimmermann-Laband syndrome 2.
AC DI-04478
AR ZLS2.
DE A form of Zimmermann-Laband syndrome, a rare developmental disorder
DE characterized by facial dysmorphism with bulbous nose and thick floppy
DE ears, gingival enlargement, hypoplasia or aplasia of terminal
DE phalanges and nails, hypertrichosis, joint hyperextensibility, and
DE hepatosplenomegaly. Some patients manifest intellectual disability
DE with or without epilepsy. ZLS2 inheritance is autosomal dominant.
DR MIM; 616455; phenotype.
DR MedGen; CN231441.
DR MeSH; D000015.
//
ID Zimmermann-Laband syndrome 3.
AC DI-05702
AR ZLS3.
DE A form of Zimmermann-Laband syndrome, a rare developmental disorder
DE characterized by facial dysmorphism with bulbous nose and thick floppy
DE ears, gingival enlargement, hypoplasia or aplasia of terminal
DE phalanges and nails, hypertrichosis, joint hyperextensibility, and
DE hepatosplenomegaly. Some patients manifest intellectual disability
DE with or without epilepsy. ZLS3 inheritance is autosomal dominant.
DR MIM; 618658; phenotype.
DR MedGen; CN262700.
DR MeSH; D000015.
//
ID Zinc deficiency, transient neonatal.
AC DI-03641
AR TNZD.
DE A disorder occurring in breast-fed infants as a consequence of low
DE milk zinc concentration in their nursing mothers, which cannot be
DE corrected by maternal zinc supplementation. A large amount of zinc, an
DE essential trace mineral, is required for normal growth particularly in
DE infants, and breast milk normally contains adequate zinc to meet the
DE requirement for infants up to 4 to 6 months of age. Zinc deficiency
DE can lead to dermatitis, alopecia, decreased growth, and impaired
DE immune function. The disorder shows autosomal dominant inheritance
DE with incomplete penetrance.
SY Neonatal zinc deficiency due to low breast milk zinc.
DR MIM; 608118; phenotype.
DR MedGen; C1842485.
DR MedGen; C1842486.
DR MeSH; D008664.
//
ID ZTTK syndrome.
AC DI-04860
AR ZTTKS.
DE An autosomal dominant syndrome characterized by intellectual
DE disability, developmental delay, malformations of the cerebral cortex,
DE epilepsy, vision problems, musculo-skeletal abnormalities, and
DE congenital malformations.
SY Zhu-Tokita-Takenouchi-Kim syndrome.
DR MIM; 617140; phenotype.
DR MedGen; CN238690.
DR MeSH; D000015.
DR MeSH; D008607.
KW KW-0991:Intellectual disability.
//
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