#DiseaseName SourceName ConceptID SourceID DiseaseMIM LastModified Category 1-2 finger syndactyly Human Phenotype Ontology C4023732 HP:0010704 16 Feb 2016 Finding 1-2 toe complete cutaneous syndactyly Human Phenotype Ontology C4025140 HP:0005767 16 Feb 2016 Finding 1-2 toe syndactyly Human Phenotype Ontology C4023726 HP:0010711 16 Feb 2016 Finding 1-3 finger syndactyly Human Phenotype Ontology C4023730 HP:0010706 16 Feb 2016 Finding 1-3 toe syndactyly Human Phenotype Ontology C4025774 HP:0001459 16 Feb 2016 Finding 1-4 finger syndactyly Human Phenotype Ontology C4023729 HP:0010707 16 Feb 2016 Finding 1-4 toe syndactyly Human Phenotype Ontology C4023725 HP:0010712 16 Feb 2016 Finding 1-5 finger complete cutaneous syndactyly Human Phenotype Ontology C1861357 HP:0006088 16 Feb 2016 Finding 1-5 finger syndactyly Human Phenotype Ontology C4023728 HP:0010708 16 Feb 2016 Finding 1-5 toe syndactyly Human Phenotype Ontology C4021235 HP:0010713 16 Feb 2016 Finding 1-minute APGAR score of 0 Human Phenotype Ontology C4476857 HP:0030927 02 Apr 2017 Finding 1-minute APGAR score of 1 Human Phenotype Ontology C4476858 HP:0030928 02 Apr 2017 Finding 1-minute APGAR score of 2 Human Phenotype Ontology C4476859 HP:0030929 02 Apr 2017 Finding 1-minute APGAR score of 3 Human Phenotype Ontology C4476860 HP:0030930 02 Apr 2017 Finding 1-minute APGAR score of 4 Human Phenotype Ontology C4476861 HP:0030931 02 Apr 2017 Finding 1-minute APGAR score of 5 Human Phenotype Ontology C4476862 HP:0030932 02 Apr 2017 Finding 1-minute APGAR score of 6 Human Phenotype Ontology C4476863 HP:0030933 02 Apr 2017 Finding 10 pairs of ribs Human Phenotype Ontology C4022526 HP:0030300 16 Feb 2016 Finding 10q partial trisomy C0795840 16 Feb 2016 Disease 10q22.3q23.3 microduplication syndrome MONDO C5190512 MONDO:0017180 17 Apr 2020 Disease 11 months growth retardation at 12yrs of age CN236311 13 Apr 2016 Finding 11 pairs of ribs Human Phenotype Ontology C1839731 HP:0000878 16 Feb 2016 Finding 11 thoracic vertebrae Human Phenotype Ontology C4022521 HP:0030306 16 Feb 2016 Finding 11p15.4 microduplication syndrome MONDO C4749508 MONDO:0017580 17 Apr 2020 Disease 11q partial monosomy syndrome C0795841 147791 16 Feb 2016 Disease 11q22.2q22.3 microdeletion syndrome MONDO CN237678 MONDO:0018632 17 Apr 2020 Disease 12p12.1 microdeletion syndrome MONDO C4755260 MONDO:0017781 17 Apr 2020 Disease 12q14 microdeletion syndrome MONDO C4305140 MONDO:0019784 17 Apr 2020 Disease 12q15q21.1 microdeletion syndrome MONDO C4518344 MONDO:0017334 17 Apr 2020 Disease 13 pairs of ribs 22 Aug 2019 Finding 13q partial monosomy syndrome NCBI curation C3151302 613884 16 Feb 2016 Disease 13q12.3 microdeletion 16 Jan 2020 Disease 13q12.3 microdeletion syndrome MONDO C4750951 MONDO:0018474 17 Apr 2020 Disease 14q11.2 microduplication syndrome MONDO C4749855 MONDO:0016835 17 Apr 2020 Disease 14q12 microdeletion syndrome MONDO C4305240 MONDO:0016833 17 Apr 2020 Disease 14q22q23 microdeletion syndrome MONDO C1864825 MONDO:0012324 609640 17 Apr 2020 Disease 14q24.1q24.3 microdeletion syndrome MONDO C4750911 MONDO:0018429 17 Apr 2020 Disease 15q overgrowth syndrome MONDO C4749920 MONDO:0017806 17 Apr 2020 Disease 15q22.2 deletion syndrome 12 Feb 2020 Disease 16p11.2 deletion syndrome NCBI curation C3150154 611913 16 Feb 2016 Disease 16p11.2p12.2 microduplication syndrome MONDO C4518821 MONDO:0016834 17 Apr 2020 Disease 16p12.1p12.3 triplication syndrome MONDO CN258544 MONDO:0044621 17 Apr 2020 Disease 16p13.11 microdeletion syndrome MONDO C4304596 MONDO:0016836 17 Apr 2020 Disease 16p13.11 microduplication syndrome MONDO C4304595 MONDO:0016837 17 Apr 2020 Disease 16p13.2-p13.13 microduplication syndrome CN239060 16 Nov 2016 Disease 16q24.1 microdeletion syndrome MONDO C4749464 MONDO:0018127 17 Apr 2020 Disease 16q24.3 microdeletion syndrome Orphanet C4304594 ORPHA261250 04 Nov 2016 Disease 17,20-lyase deficiency, isolated, included NCBI curation 16 Feb 2016 Disease 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete, included NCBI curation 16 Feb 2016 Disease 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial, included NCBI curation 16 Feb 2016 Disease 17-Beta-Hydroxysteroid Dehydrogenase III Deficiency CN239160 02 Dec 2016 Disease 17q11.2 microduplication syndrome MONDO C4304642 MONDO:0015350 17 Apr 2020 Disease 19p13.12 microdeletion syndrome MONDO C4304579 MONDO:0016765 17 Apr 2020 Disease 19p13.3 microduplication syndrome MONDO CN237720 MONDO:0018658 17 Apr 2020 Disease 1p13.3 deletion syndrome 28 Jun 2019 Disease 1p21.3 microdeletion syndrome MONDO C4304578 MONDO:0017405 17 Apr 2020 Disease 1p35.2 microdeletion syndrome MONDO CN237766 MONDO:0018697 17 Apr 2020 Disease 1q21.1 recurrent microdeletion NCBI curation C2675897 612474 16 Feb 2016 Disease 1q24q25 microdeletion syndrome NCBI curation CN252652 04 Mar 2019 Disease 1q44 microdeletion syndrome MONDO C4304540 MONDO:0016561 17 Apr 2020 Disease 2,4-Dienoyl-CoA reductase deficiency NCBI curation C1857252 616034 16 Feb 2016 Disease 2-3 finger syndactyly Human Phenotype Ontology C0432055 HP:0001233 16 Feb 2016 Finding 2-3 toe cutaneous syndactyly Human Phenotype Ontology C0432040 HP:0005709 16 Feb 2016 Finding 2-3 toe syndactyly Human Phenotype Ontology C4551570 HP:0004691 16 Feb 2016 Finding 2-4 finger syndactyly Human Phenotype Ontology C4021236 HP:0010709 16 Feb 2016 Finding 2-4 toe cutaneous syndactyly Human Phenotype Ontology C4021622 HP:0005768 16 Feb 2016 Finding 2-4 toe syndactyly Human Phenotype Ontology C4021234 HP:0010714 16 Feb 2016 Finding 2-5 finger syndactyly Human Phenotype Ontology C4023736 HP:0010692 16 Feb 2016 Finding 2-5 toe syndactyly Human Phenotype Ontology C4023724 HP:0010715 16 Feb 2016 Finding 2-aminoadipic 2-oxoadipic aciduria NCBI curation C1859817 204750 24 Aug 2016 Disease 2-hydroxyethyl methacrylate sensitization C2930873 16 Feb 2016 Disease 2-Hydroxyglutaric aciduria 16 Feb 2016 Disease 2-Methylacetoacetyl CoA thiolase deficiency C2930874 16 Feb 2016 Disease 20p12.3 microdeletion syndrome MONDO C4304539 MONDO:0016841 17 Apr 2020 Disease 20p13 microdeletion syndrome MONDO C4750789 MONDO:0017780 17 Apr 2020 Disease 20q11.2 microdeletion syndrome MONDO CN237681 MONDO:0018633 17 Apr 2020 Disease 20q11.2 microduplication syndrome MONDO C4706257 MONDO:0018204 17 Apr 2020 Disease 20q13.33 microdeletion syndrome MONDO C4518823 MONDO:0016843 17 Apr 2020 Disease 21-HYDROXYLASE POLYMORPHISM 16 Feb 2016 Disease 21q22.11q22.12 microdeletion syndrome MONDO C5192593 MONDO:0016845 17 Apr 2020 Disease 22q11.2 central deletion syndrome 22 Jul 2019 Finding 22q11.2 central duplication syndrome 22 Jul 2019 Disease 22q11.2 distal duplication syndrome 22 Jul 2019 Finding 22q13.3 deletion syndrome NCBI curation C1853490 606232 16 Feb 2016 Disease 2nd-5th toe middle phalangeal hypoplasia Human Phenotype Ontology C1861376 HP:0008083 16 Feb 2016 Finding 2p terminal deletion 05 Sep 2019 Finding 2p13.2 microdeletion syndrome MONDO C4749460 MONDO:0018207 17 Apr 2020 Disease 2p15-16.1 microdeletion syndrome NCBI curation C2675875 612513 16 Feb 2016 Disease 2p21 microdeletion syndrome MONDO C4304537 MONDO:0015583 17 Apr 2020 Disease 2p21 microdeletion syndrome without cystinuria MONDO C4749458 MONDO:0018245 17 Apr 2020 Disease 2q23.1 microdeletion syndrome MONDO C4304532 MONDO:0016459 17 Apr 2020 Disease 2q23.1 microduplication syndrome MONDO C4707847 MONDO:0017786 17 Apr 2020 Disease 2q24 microdeletion syndrome MONDO CN036809 MONDO:0015566 17 Apr 2020 Disease 2q31.1 microdeletion syndrome MONDO C4274647 MONDO:0016652 17 Apr 2020 Disease 2q31.1 microduplication syndrome MONDO CN203162 MONDO:0017412 17 Apr 2020 Disease 2q33.1 microdeletion syndrome MONDO C4706258 MONDO:0016653 17 Apr 2020 Disease 3 beta-Hydroxysteroid dehydrogenase deficiency NCBI curation C0342471 201810 16 Feb 2016 Disease 3 Methylcrotonyl-CoA carboxylase 1 deficiency NCBI curation CN028786 210200 16 Feb 2016 Disease 3 mm pineal cyst 23 Jan 2020 Finding 3-4 finger cutaneous syndactyly Human Phenotype Ontology C4023115 HP:0011939 16 Feb 2016 Finding 3-4 finger syndactyly Human Phenotype Ontology C1856889 HP:0006097 16 Feb 2016 Finding 3-4 toe syndactyly Human Phenotype Ontology C1834062 HP:0009779 16 Feb 2016 Finding 3-5 finger syndactyly Human Phenotype Ontology C4023727 HP:0010710 16 Feb 2016 Finding 3-5 toe syndactyly Human Phenotype Ontology C4023723 HP:0010716 16 Feb 2016 Finding 3-hydroxydicarboxylic aciduria Human Phenotype Ontology C4024725 HP:0008160 16 Feb 2016 Finding 3-Hydroxyisobutyric aciduria C0342737 236795 16 Feb 2016 Disease 3-limbed polydactyly CN238701 19 Oct 2016 Finding 3-MCC Deficiency C0268600 02 Dec 2016 Disease 3-methylcrotonyl CoA carboxylase 2 deficiency NCBI curation C1859499 210210 16 Feb 2016 Disease 3-Methylglutaconic aciduria OMIM phenotypic series C3696376 PS250950 16 Feb 2016 Disease 3-Methylglutaconic aciduria Human Phenotype Ontology C3696376 HP:0003535 16 Feb 2016 Disease 3-Methylglutaconic aciduria type 1 NCBI curation C0342727 250950 25 Jul 2018 Disease 3-Methylglutaconic aciduria type 2 NCBI curation C0574083 302060 16 Feb 2016 Disease 3-Methylglutaconic aciduria type 3 C0574084 258501 16 Feb 2016 Disease 3-methylglutaconic aciduria type 9 MONDO C4540171 MONDO:0044724 617698 22 Apr 2020 Disease 3-methylglutaconic aciduria type IV NCBI curation C1855126 250951 16 Feb 2016 Disease 3-methylglutaconic aciduria type V NCBI curation C1857776 610198 16 Feb 2016 Disease 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia NCBI curation C4225393 616271 16 Feb 2016 Disease 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome NCBI curation C3553597 614739 16 Feb 2016 Disease 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia CN259052 14 Jun 2019 Disease 3-methylglutaconic aciduria, type VIII NCBI curation C4310650 617248 20 Jun 2017 Disease 3-Methylglutaric aciduria Human Phenotype Ontology C3151952 HP:0003344 16 Feb 2016 Finding 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency C0268297 264600 16 Feb 2016 Disease 3-Phosphoglycerate dehydrogenase deficiency C0580190 27 Dec 2019 Disease 3MC syndrome 1 MONDO C0796059 MONDO:0009770 257920 22 Apr 2020 Disease 3MC syndrome 2 MONDO C0796279 MONDO:0009927 265050 22 Apr 2020 Disease 3MC syndrome 3 MONDO C0796032 MONDO:0009554 248340 22 Apr 2020 Disease 3p25.3 microdeletion syndrome MONDO CN237571 MONDO:0018564 17 Apr 2020 Disease 3q partial trisomy syndrome C0265401 16 Feb 2016 Disease 3q26 microduplication syndrome MONDO C4755319 MONDO:0019878 17 Apr 2020 Disease 3q26q27 microdeletion syndrome MONDO C4755255 MONDO:0018156 17 Apr 2020 Disease 3q27.3 microdeletion syndrome MONDO C4749427 MONDO:0018341 17 Apr 2020 Disease 3q29 microdeletion syndrome NCBI curation C2674949 609425 16 Feb 2016 Disease 3rd finger clinodactyly 22 Aug 2019 Finding 4-5 finger syndactyly Human Phenotype Ontology C4023731 HP:0010705 16 Feb 2016 Finding 4-5 toe syndactyly Human Phenotype Ontology C1837836 HP:0004692 16 Feb 2016 Finding 4-Hydroxyphenylacetic aciduria Human Phenotype Ontology C1848680 HP:0003607 16 Feb 2016 Disease 4-Hydroxyphenylpyruvic aciduria Human Phenotype Ontology C1848678 HP:0003161 16 Feb 2016 Finding 45,X/46,XY mixed gonadal dysgenesis MONDO C0018055 MONDO:0015779 17 Apr 2020 Disease 46, XY disorder of sex development (DSD) CN860314 13 Mar 2018 Disease 46,XX disorder of gonadal development MONDO CN227225 MONDO:0017961 17 Apr 2020 Disease 46,XX disorder of sex development induced by androgens excess MONDO CN227738 MONDO:0020039 17 Apr 2020 Disease 46,XX disorder of sex development induced by endogenous maternal-derived androgen MONDO CN227227 MONDO:0017963 17 Apr 2020 Disease 46,XX disorder of sex development induced by exogenous maternal-derived androgen MONDO CN227228 MONDO:0017964 17 Apr 2020 Disease 46,XX disorder of sex development induced by fetal androgens excess MONDO CN227655 MONDO:0019593 17 Apr 2020 Disease 46,XX disorder of sex development induced by fetoplacental androgens excess MONDO CN227226 MONDO:0017962 17 Apr 2020 Disease 46,XX disorder of sex development induced by maternal-derived androgen MONDO CN227662 MONDO:0019608 17 Apr 2020 Disease 46,XX disorder of sex development-anorectal anomalies syndrome MONDO CN203326 MONDO:0017573 17 Apr 2020 Disease 46,XX gonadal dysgenesis Orphanet C0685837 ORPHA243 22 Oct 2017 Disease 46,XX Gonadal dysgenesis epibulbar dermoid 16 Feb 2016 Disease 46,xx gonadal dysgenesis, complete, sry-positive NCBI curation CN220534 16 Feb 2016 Disease 46,XX sex reversal 2 NCBI curation C2749215 278850 20 May 2016 Disease 46,XX sex reversal 4 NCBI curation C4479552 617480 21 Jun 2017 Disease 46,XX SEX REVERSAL 5 OMIM CN281159 618901 618901 04 Jun 2020 Disease 46,XX sex reversal, type 1 NCBI curation C2748895 400045 16 Feb 2016 Disease 46,XX sex reversal, type 3 NCBI curation C3151782 300833 16 Feb 2016 Disease 46,XX testicular disorder of sex development C2936420 16 Feb 2016 Disease 46,XY disorder of gonadal development MONDO CN227229 MONDO:0017966 17 Apr 2020 Disease 46,XY disorder of sex development and 46,XY complete gonadal dysgenesis NCBI curation CN043561 16 Feb 2016 Disease 46,XY disorder of sex development due to a cholesterol synthesis defect MONDO CN227234 MONDO:0017971 17 Apr 2020 Disease 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue MONDO CN227739 MONDO:0020041 17 Apr 2020 Disease 46,XY disorder of sex development due to a testosterone synthesis defect MONDO CN227656 MONDO:0019594 17 Apr 2020 Disease 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect MONDO CN227657 MONDO:0019595 17 Apr 2020 Disease 46,XY disorder of sex development due to impaired androgen production MONDO CN227233 MONDO:0017970 17 Apr 2020 Disease 46,XY disorder of sex development due to isolated 17,20-lyase deficiency MONDO CN206443 MONDO:0019597 17 Apr 2020 Disease 46,XY disorder of sex development due to testicular steroidogenesis defect MONDO CN227658 MONDO:0019596 17 Apr 2020 Disease 46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors MONDO CN227235 MONDO:0017974 17 Apr 2020 Disease 46,XY disorder of sex development of endocrine origin MONDO CN227232 MONDO:0017969 17 Apr 2020 Disease 46,XY disorder of sex development of gynecological interest MONDO CN227238 MONDO:0017977 17 Apr 2020 Disease 46,XY DSD/46,XY CGD NCBI curation CN239172 20 Jun 2017 Disease 46,XY gonadal dysgenesis, complete, dhh-related NCBI curation C4016928 16 Feb 2016 Disease 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy NCBI curation C2751325 607080 16 Feb 2016 Disease 46,XY ovotesticular disorder of sex development MONDO C4706535 MONDO:0017968 17 Apr 2020 Disease 46,XY partial gonadal dysgenesis MONDO C4510744 MONDO:0016674 17 Apr 2020 Disease 46,XY sex reversal 10 NCBI curation C4225331 616425 22 Jun 2016 Disease 46,XY sex reversal 11 NCBI curation C0266427 273250 24 Apr 2020 Disease 46,XY sex reversal 8 NCBI curation C1839840 614279 16 Feb 2016 Disease 46,XY sex reversal 9 NCBI curation C4015129 616067 16 Feb 2016 Disease 46,XY sex reversal, type 1 NCBI curation C2748896 400044 16 Feb 2016 Disease 46,XY sex reversal, type 2 NCBI curation C1848296 300018 16 Feb 2016 Disease 46,XY sex reversal, type 3 NCBI curation C3489793 612965 16 Feb 2016 Disease 46,XY sex reversal, type 4 NCBI curation C2752149 154230 16 Feb 2016 Disease 46,XY sex reversal, type 5 NCBI curation C2751317 613080 16 Feb 2016 Disease 46,XY sex reversal, type 6 NCBI curation C3151064 613762 16 Feb 2016 Disease 46,XY sex reversal, type 7 NCBI curation C1856273 233420 16 Feb 2016 Disease 46,XY true hermaphroditism, SRY-related NCBI curation C2748897 16 Feb 2016 Disease 46XY sex reversal 2, dosage-sensitive CN260022 18 Jun 2019 Disease 48,XXXY syndrome MONDO C0265498 MONDO:0019928 17 Apr 2020 Disease 48,XYYY syndrome MONDO C4518082 MONDO:0020469 17 Apr 2020 Disease 49,XXXXY syndrome MONDO C0265499 MONDO:0019929 17 Apr 2020 Disease 49,XXXYY syndrome MONDO C4749586 MONDO:0016854 17 Apr 2020 Disease 49,XYYYY syndrome MONDO C4518342 MONDO:0020470 17 Apr 2020 Disease 4h syndrome NCBI curation 16 Feb 2016 Disease 4p partial monosomy syndrome C1956097 194190 16 Feb 2016 Disease 4p16.3 microduplication syndrome MONDO C4512053 MONDO:0019873 17 Apr 2020 Disease 4q25 proximal deletion syndrome MONDO CN258658 MONDO:0044717 17 Apr 2020 Disease 5) CN237116 08 Jul 2016 Finding 5-fluorouracil poisoning MONDO CN201128 MONDO:0016312 17 Apr 2020 Disease 5-hydroxytryptamine oxygenase regulator MONDO C3887951 MONDO:0007742 17 Apr 2020 Disease 5-minute APGAR score of 0 Human Phenotype Ontology C4476850 HP:0030920 02 Apr 2017 Finding 5-minute APGAR score of 1 Human Phenotype Ontology C4476851 HP:0030921 02 Apr 2017 Finding 5-minute APGAR score of 2 Human Phenotype Ontology C4476852 HP:0030922 02 Apr 2017 Finding 5-minute APGAR score of 3 Human Phenotype Ontology C4476853 HP:0030923 02 Apr 2017 Finding 5-minute APGAR score of 4 Human Phenotype Ontology C4476854 HP:0030924 02 Apr 2017 Finding 5-minute APGAR score of 5 Human Phenotype Ontology C4476855 HP:0030925 02 Apr 2017 Finding 5-minute APGAR score of 6 Human Phenotype Ontology C4476856 HP:0030926 02 Apr 2017 Finding 5-Nucleotidase syndrome C2930876 16 Feb 2016 Disease 5-Oxoprolinase deficiency C0268525 260005 16 Feb 2016 Disease 5-prime-deiodinase deficiency, generalized, causing euthyroid hyperthyroxinemia, included NCBI curation 16 Feb 2016 Disease 5p partial monosomy syndrome C0010314 123450 16 Feb 2016 Disease 5q14.3 microdeletion syndrome MONDO C4304529 MONDO:0016456 17 Apr 2020 Disease 5q22 deletion syndrome NCBI curation CN119543 16 Feb 2016 Disease 5q35 microduplication syndrome C4304526 31 Mar 2020 Disease 5th finger clinodactyly 22 Aug 2019 Finding 6 metacarpals Human Phenotype Ontology C1861360 HP:0001501 16 Feb 2016 Finding 6-phosphogluconate dehydrogenase deficiency MONDO CN229305 MONDO:0020457 17 Apr 2020 Disease 6-phosphogluconolactonase deficiency NCBI curation C1868355 172150 16 Feb 2016 Disease 6p22 microdeletion syndrome MONDO C4304528 MONDO:0016655 17 Apr 2020 Disease 6q partial trisomy syndrome C0265412 16 Feb 2016 Disease 6q terminal deletion syndrome MONDO C4304514 MONDO:0019164 17 Apr 2020 Disease 6q16 deletion syndrome MONDO CN200301 MONDO:0015749 17 Apr 2020 Disease 6q21-6q22.1 deletion CN233148 16 Feb 2016 Disease 7p22.1 microduplication syndrome MONDO C4707093 MONDO:0017792 17 Apr 2020 Disease 7q31 microdeletion syndrome MONDO C4750783 MONDO:0016656 17 Apr 2020 Disease 8p inverted duplication/deletion syndrome MONDO CN206812 MONDO:0019876 17 Apr 2020 Disease 8p11.2 deletion syndrome MONDO C4304505 MONDO:0016657 17 Apr 2020 Disease 8p23.1 duplication syndrome C4707330 16 Feb 2016 Disease 8p23.1 microdeletion syndrome MONDO C2931638 MONDO:0016658 17 Apr 2020 Disease 8q12 microduplication syndrome MONDO C4304504 MONDO:0016458 17 Apr 2020 Disease 8q22.1 microdeletion syndrome MONDO C1842464 MONDO:0011977 608156 17 Apr 2020 Disease 9p partial trisomy syndrome C0265428 16 Feb 2016 Disease 9p13 microdeletion syndrome MONDO C4707097 MONDO:0017928 17 Apr 2020 Disease 9q22.3 microdeletion NCBI curation C3711390 16 Feb 2016 Disease 9q31.1q31.3 microdeletion syndrome MONDO C4750910 MONDO:0018428 17 Apr 2020 Disease 9q33.3q34.11 microdeletion syndrome MONDO CN258460 MONDO:0044641 17 Apr 2020 Disease 9q34 microduplication syndrome 17 May 2019 Disease _ Audiologic/Otolaryngologic (child onset) CN232491 16 Feb 2016 Finding _ Cardiovascular (adult onset) CN232459 16 Feb 2016 Finding _ Cardiovascular (child onset) CN232503 16 Feb 2016 Finding _ Dental (child onset) CN232509 16 Feb 2016 Finding _ Dermatologic (child onset) CN232511 16 Feb 2016 Finding _ Gastrointestinal (adult onset) CN232460 16 Feb 2016 Finding _ Gastrointestinal (child onset) CN232514 16 Feb 2016 Finding _ Musculoskeletal/Structural (child onset) CN232522 16 Feb 2016 Finding _ Neurologic (child onset) CN232526 16 Feb 2016 Finding _ Oncologic (adult onset) CN232461 16 Feb 2016 Finding _ Ophthalmologic (child onset) CN232530 16 Feb 2016 Finding _ Renal (child onset) CN232531 16 Feb 2016 Finding AA amyloidosis NCBI curation C3536715 16 Feb 2016 Disease AApoAI amyloidosis MONDO CN206638 MONDO:0019731 17 Apr 2020 Disease AApoAIV amyloidosis MONDO CN237620 MONDO:0018589 17 Apr 2020 Disease Aarskog syndrome NCBI curation C0175701 305400 16 Feb 2016 Disease Aarskog syndrome, autosomal dominant NCBI curation C3149220 100050 16 Feb 2016 Disease Aase-Smith syndrome MONDO C0220686 MONDO:0007839 147800 22 Apr 2020 Disease Abacavir hypersensitivity NCBI curation C1840547 16 Feb 2016 Pharmacological response Abasia Human Phenotype Ontology C0877217 HP:0012651 16 Feb 2016 Finding ABCA1-Related Disorders CN239173 02 Dec 2016 Disease ABCA2-related condition 27 Apr 2018 Finding ABCA4-Related Disorders CN239167 02 Dec 2016 Disease ABCB4-related disorders 11 Oct 2018 Disease ABCB4-Related Intrahepatic Cholestasis CN239174 02 Dec 2016 Disease ABCC8-related disorder 07 Dec 2018 Disease ABCC9-Related Disorders 23 May 2019 Disease ABCD syndrome C1838099 600501 16 Feb 2016 Disease Abderhalden-Kaufmann-Lignac syndrome MONDO C2930877 MONDO:0021725 22 Apr 2020 Disease Abdominal and pelvic region disorder MONDO CN277761 MONDO:0044965 17 Apr 2020 Disease Abdominal aortic calcification Human Phenotype Ontology C4531207 HP:0031313 04 Apr 2018 Finding Abdominal aseptic abscess Human Phenotype Ontology C4476641 HP:0025181 02 Apr 2017 Finding Abdominal chemodectomas with cutaneous angiolipomas 16 Feb 2016 Disease Abdominal colic Human Phenotype Ontology C0232488 HP:0011848 16 Feb 2016 Finding Abdominal cystic lymphangioma NCBI curation C2930929 16 Feb 2016 Disease Abdominal distention Human Phenotype Ontology C0000731 HP:0003270 16 Feb 2016 Finding Abdominal ectopia cordis Human Phenotype Ontology C4023287 HP:0011582 16 Feb 2016 Finding Abdominal ectopic pregnancy MONDO MONDO:0043759 17 Apr 2020 Disease Abdominal mass Human Phenotype Ontology C0000734 HP:0031500 04 Apr 2018 Finding Abdominal obesity Human Phenotype Ontology C0311277 HP:0012743 16 Feb 2016 Finding Abdominal obesity-metabolic syndrome OMIM phenotypic series C2930930 PS605552 30 Jul 2017 Disease Abdominal obesity-metabolic syndrome 3 NCBI curation C4014361 615812 16 Feb 2016 Disease Abdominal obesity-metabolic syndrome quantitative trait locus 1 NCBI curation 16 Feb 2016 Disease Abdominal obesity-metabolic syndrome quantitative trait locus 2 NCBI curation C1854170 605572 16 Feb 2016 Disease Abdominal pain Human Phenotype Ontology C0000737 HP:0002027 16 Feb 2016 Finding Abdominal situs ambiguus Human Phenotype Ontology C4531036 HP:0031565 04 Apr 2018 Finding Abdominal symptom Human Phenotype Ontology C0740651 HP:0011458 16 Feb 2016 Finding Abdominal tuberculosis MONDO C0740652 MONDO:0000369 04 Jun 2020 Infectious disease Abdominal wall defect Human Phenotype Ontology C0238577 HP:0010866 16 Feb 2016 Finding Abdominal wall defect; talipes equinovarus; single umbilical artery; abnormality of the vertebrae 16 Feb 2016 Finding Abdominal wall muscle weakness Human Phenotype Ontology C4021527 HP:0009023 16 Feb 2016 Finding abducens 05 Sep 2019 Finding Abducens nerve disease MONDO MONDO:0020594 17 Apr 2020 Disease Abducens nerve neoplasm MONDO C1263898 MONDO:0001884 17 Apr 2020 Disease Abducens palsy Human Phenotype Ontology C1847523 HP:0011349 16 Feb 2016 Finding Aberrant melanosome maturation Human Phenotype Ontology C1969516 HP:0007384 16 Feb 2016 Finding Aberrant subclavian artery C0431498 16 Feb 2016 Disease ABeta2M amyloidosis MONDO CN237621 MONDO:0018590 17 Apr 2020 Disease Abetalipoproteinaemia NCBI curation C0000744 200100 16 Feb 2016 Disease Ablepharon Human Phenotype Ontology C0266574 HP:0011224 16 Feb 2016 Finding Ablepharon macrostomia syndrome C1860224 200110 16 Feb 2016 Disease Abnormal activity of mitochondrial respiratory chain Human Phenotype Ontology C4023126 HP:0011922 16 Feb 2016 Finding Abnormal adiponectin level Human Phenotype Ontology C4073126 HP:0030684 02 Apr 2017 Finding Abnormal aggressive, impulsive or violent behavior Human Phenotype Ontology C4024963 HP:0006919 16 Feb 2016 Finding Abnormal albumin level Human Phenotype Ontology C4023036 HP:0012116 16 Feb 2016 Finding Abnormal aldolase level Human Phenotype Ontology C4022916 HP:0012400 16 Feb 2016 Finding Abnormal alpha granule content Human Phenotype Ontology C4022863 HP:0012527 16 Feb 2016 Finding Abnormal alpha granule distribution Human Phenotype Ontology C4022865 HP:0012525 16 Feb 2016 Finding Abnormal alpha granules Human Phenotype Ontology C4022886 HP:0012483 16 Feb 2016 Finding Abnormal alpha-beta T cell morphology Human Phenotype Ontology C4022503 HP:0030333 16 Feb 2016 Finding Abnormal amplitude of dark-adapted bright flash electroretinogram Human Phenotype Ontology C4072968 HP:0030478 16 Feb 2016 Finding Abnormal amplitude of dark-adapted dim flash electroretinogram Human Phenotype Ontology C4072966 HP:0030476 16 Feb 2016 Finding Abnormal amplitude of flash visual evoked potentials Human Phenotype Ontology C4072952 HP:0030462 16 Feb 2016 Finding Abnormal amplitude of light-adapted flicker electroretinogram Human Phenotype Ontology C4072969 HP:0030479 16 Feb 2016 Finding Abnormal amplitude of light-adapted single flash electroretinogram Human Phenotype Ontology C4072971 HP:0030481 16 Feb 2016 Finding Abnormal amplitude of pattern electroretinogram Human Phenotype Ontology C4072975 HP:0030485 16 Feb 2016 Finding Abnormal amplitude of pattern onset/offset visual evoked potentials Human Phenotype Ontology C4072948 HP:0030457 16 Feb 2016 Finding Abnormal amplitude of pattern reversal visual evoked potentials Human Phenotype Ontology C4025834 HP:0000650 16 Feb 2016 Finding Abnormal Amsler grid test Human Phenotype Ontology C4073062 HP:0030590 16 Feb 2016 Finding Abnormal anatomic location of the heart Human Phenotype Ontology C4025359 HP:0004307 16 Feb 2016 Finding Abnormal angiostatin level Human Phenotype Ontology C4531119 HP:0031439 04 Apr 2018 Finding Abnormal anterior horn cell morphology Human Phenotype Ontology C0154681 HP:0006802 16 Feb 2016 Finding Abnormal antimullerian hormone level Human Phenotype Ontology C4476970 HP:0031101 04 Apr 2018 Finding Abnormal aortic arch morphology Human Phenotype Ontology C3163801 HP:0012303 04 Apr 2018 Finding Abnormal aortic morphology Human Phenotype Ontology C4025756 HP:0001679 04 Apr 2018 Finding Abnormal aortic physiology Human Phenotype Ontology C4476880 HP:0030964 04 Apr 2018 Finding Abnormal aortic valve cusp morphology Human Phenotype Ontology C4531034 HP:0031567 04 Apr 2018 Finding Abnormal aortic valve physiology 09 Nov 2018 Disease Abnormal apolipoprotein level Human Phenotype Ontology C4476649 HP:0025201 02 Apr 2017 Finding Abnormal appendicular skeleton morphology Human Phenotype Ontology C4023163 HP:0011844 16 Feb 2016 Finding Abnormal arm span Human Phenotype Ontology C4022731 HP:0012769 16 Feb 2016 Finding Abnormal arterial physiology Human Phenotype Ontology C4476701 HP:0025323 02 Apr 2017 Finding Abnormal atrial arrangement Human Phenotype Ontology C2959688 HP:0011535 16 Feb 2016 Finding Abnormal atrioventricular conduction Human Phenotype Ontology C4025244 HP:0005150 16 Feb 2016 Finding Abnormal atrioventricular connection Human Phenotype Ontology C0344612 HP:0011546 16 Feb 2016 Finding Abnormal auditory evoked potentials Human Phenotype Ontology C0522216 HP:0006958 16 Feb 2016 Finding abnormal auditory perceptions 05 Sep 2019 Finding Abnormal automated kinetic perimetry test Human Phenotype Ontology C4073066 HP:0030594 16 Feb 2016 Finding Abnormal autonomic nervous system morphology Human Phenotype Ontology C4022953 HP:0012331 16 Feb 2016 Finding Abnormal autonomic nervous system physiology Human Phenotype Ontology C4022952 HP:0012332 16 Feb 2016 Finding Abnormal axial skeleton morphology Human Phenotype Ontology C4024586 HP:0009121 16 Feb 2016 Finding Abnormal axonemal organization of respiratory motile cilia Human Phenotype Ontology C4022987 HP:0012258 16 Feb 2016 Finding Abnormal B cell proliferation Human Phenotype Ontology C4531167 HP:0031380 04 Apr 2018 Finding Abnormal B cell subset distribution Human Phenotype Ontology C4476839 HP:0025539 04 Apr 2018 Finding Abnormal B-type natriuretic peptide level Human Phenotype Ontology C4476997 HP:0031138 04 Apr 2018 Finding Abnormal basal ganglia MRI signal intensity Human Phenotype Ontology C4022745 HP:0012751 16 Feb 2016 Finding Abnormal best corrected visual acuity test Human Phenotype Ontology C4073008 HP:0030534 16 Feb 2016 Finding Abnormal biliary tract morphology Human Phenotype Ontology C4021086 HP:0012440 16 Feb 2016 Finding Abnormal biliary tract physiology Human Phenotype Ontology C4022902 HP:0012439 16 Feb 2016 Finding Abnormal bleeding Human Phenotype Ontology C1458140 HP:0001892 16 Feb 2016 Finding Abnormal blistering of the skin Human Phenotype Ontology C2132198 HP:0008066 16 Feb 2016 Finding Abnormal blood gas level Human Phenotype Ontology C0476337 HP:0012415 16 Feb 2016 Finding Abnormal bone collagen fibril morphology Human Phenotype Ontology C4023158 HP:0011862 16 Feb 2016 Finding Abnormal bone ossification Human Phenotype Ontology C4023161 HP:0011849 16 Feb 2016 Finding Abnormal bone structure Human Phenotype Ontology C4025630 HP:0003330 16 Feb 2016 Finding Abnormal bowel sounds Human Phenotype Ontology C0159060 HP:0030142 16 Feb 2016 Finding Abnormal brain choline level by MRS Human Phenotype Ontology C4476566 HP:0025047 02 Apr 2017 Finding Abnormal brain choline/creatine ratio by MRS Human Phenotype Ontology C4022760 HP:0012709 16 Feb 2016 Finding Abnormal brain creatine level by MRS Human Phenotype Ontology C4476568 HP:0025049 02 Apr 2017 Finding Abnormal brain FDG positron emission tomography Human Phenotype Ontology C4022798 HP:0012658 16 Feb 2016 Finding Abnormal brain lactate level by MRS Human Phenotype Ontology C4476564 HP:0025045 02 Apr 2017 Finding Abnormal brain N-acetyl aspartate level by MRS Human Phenotype Ontology C4476571 HP:0025052 02 Apr 2017 Finding Abnormal brain positron emission tomography Human Phenotype Ontology C4022799 HP:0012657 16 Feb 2016 Finding Abnormal brainstem MRI signal intensity Human Phenotype Ontology C4022749 HP:0012747 16 Feb 2016 Finding Abnormal branching pattern of left aortic arch Human Phenotype Ontology C4476936 HP:0031055 04 Apr 2018 Finding Abnormal branching pattern of the aortic arch Human Phenotype Ontology C4023282 HP:0011587 16 Feb 2016 Finding Abnormal breast morphology Human Phenotype Ontology C4531292 HP:0031093 04 Apr 2018 Finding Abnormal breast physiology Human Phenotype Ontology C4531291 HP:0031094 04 Apr 2018 Finding Abnormal breath sound Human Phenotype Ontology C0231856 HP:0030829 02 Apr 2017 Finding abnormal breathing pattern at infancy CN238703 19 Oct 2016 Finding Abnormal bronchus morphology Human Phenotype Ontology C4476770 HP:0025426 04 Apr 2018 Finding Abnormal bronchus physiology Human Phenotype Ontology C4476771 HP:0025427 04 Apr 2018 Finding Abnormal buccal mucosa cell morphology Human Phenotype Ontology C4531098 HP:0031476 04 Apr 2018 Finding Abnormal C-peptide level Human Phenotype Ontology C4280765 HP:0030794 02 Apr 2017 Finding Abnormal cadiomyocyte dystrophin staining Human Phenotype Ontology C4531184 HP:0031339 04 Apr 2018 Finding Abnormal calcification of the carpal bones Human Phenotype Ontology C1968592 HP:0009164 16 Feb 2016 Finding Abnormal capillary morphology Human Phenotype Ontology C4293698 HP:0025016 02 Apr 2017 Finding Abnormal capillary physiology Human Phenotype Ontology C4293697 HP:0025018 02 Apr 2017 Finding Abnormal cardiac atrial physiology Human Phenotype Ontology C4476779 HP:0025443 04 Apr 2018 Finding Abnormal cardiac axis CN241074 31 Mar 2017 Finding Abnormal cardiac biomarker test Human Phenotype Ontology C4477079 HP:0500020 04 Apr 2018 Finding Abnormal cardiac catheterization Human Phenotype Ontology C0740321 HP:0500017 04 Apr 2018 Finding Abnormal cardiac exercise stress test Human Phenotype Ontology C4477077 HP:0500018 04 Apr 2018 Finding Abnormal cardiac MRI Human Phenotype Ontology C4477076 HP:0500016 04 Apr 2018 Finding Abnormal cardiac test Human Phenotype Ontology C4477075 HP:0500015 04 Apr 2018 Finding Abnormal cardiac ventricle morphology Human Phenotype Ontology C4025752 HP:0001713 04 Apr 2018 Finding Abnormal cardiac ventricular function Human Phenotype Ontology C4280733 HP:0030872 02 Apr 2017 Finding Abnormal cardiomyocyte connexin43 staining Human Phenotype Ontology C4531186 HP:0031337 04 Apr 2018 Finding Abnormal cardiomyocyte mitochondrial morphology Human Phenotype Ontology C4531188 HP:0031335 04 Apr 2018 Finding Abnormal cardiomyocyte morphology Human Phenotype Ontology C4531192 HP:0031331 04 Apr 2018 Finding Abnormal cardiomyocyte plakoglobin staining Human Phenotype Ontology C4531185 HP:0031338 04 Apr 2018 Finding Abnormal carotid artery morphology Human Phenotype Ontology C4025211 HP:0005344 04 Apr 2018 Finding Abnormal cartilage collagen Human Phenotype Ontology C4021847 HP:0008271 16 Feb 2016 Finding Abnormal cartilage matrix Human Phenotype Ontology C4024721 HP:0008178 16 Feb 2016 Finding Abnormal cartilage morphology Human Phenotype Ontology C4025680 HP:0002763 16 Feb 2016 Finding Abnormal CD25 upregulation upon TCR activation Human Phenotype Ontology C4531235 HP:0031269 04 Apr 2018 Finding Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count Human Phenotype Ontology C4021859 HP:0030335 16 Feb 2016 Finding Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology Human Phenotype Ontology C4022502 HP:0030334 16 Feb 2016 Finding Abnormal CD4:CD8 ratio Human Phenotype Ontology C4531154 HP:0031394 04 Apr 2018 Finding Abnormal CD69 upregulation upon TCR activation Human Phenotype Ontology C4531237 HP:0031267 04 Apr 2018 Finding Abnormal celiac artery morphology Human Phenotype Ontology C4022954 HP:0012326 04 Apr 2018 Finding Abnormal cell morphology Human Phenotype Ontology C4476793 HP:0025461 04 Apr 2018 Finding Abnormal cell proliferation Human Phenotype Ontology C4531170 HP:0031377 04 Apr 2018 Finding Abnormal cell-free DNA aneuploidy screen results CN239049 10 Nov 2016 Finding Abnormal cell-free DNA aneuploidy screen results MedGen UID:893316 22 Jun 2020 Finding Abnormal cellular phenotype Human Phenotype Ontology C4476724 HP:0025354 02 Apr 2017 Finding Abnormal cellular physiology Human Phenotype Ontology HP:0025462 04 Apr 2018 Finding Abnormal central microtubular pair morphology of respiratory motile cilia Human Phenotype Ontology C4022985 HP:0012260 16 Feb 2016 Finding Abnormal central response of multifocal electroretinogram Human Phenotype Ontology C4072978 HP:0030488 16 Feb 2016 Finding Abnormal cerebellum morphology 07 May 2020 Finding Abnormal cerebral artery morphology Human Phenotype Ontology C4021520 HP:0009145 04 Apr 2018 Finding Abnormal cerumen color Human Phenotype Ontology C4280768 HP:0030790 02 Apr 2017 Finding Abnormal cervical curvature Human Phenotype Ontology C3151523 HP:0005905 16 Feb 2016 Finding Abnormal cervical myelogram Human Phenotype Ontology C4025135 HP:0005788 16 Feb 2016 Finding Abnormal cholesterol homeostasis Human Phenotype Ontology C1843372 HP:0003464 16 Feb 2016 Finding abnormal chromosomal and genetic finding on antenatal screening of mother C0451809 18 Jan 2019 Finding Abnormal chromosome morphology Human Phenotype Ontology C4531140 HP:0031411 04 Apr 2018 Finding Abnormal ciliary motility Human Phenotype Ontology C4022983 HP:0012262 16 Feb 2016 Finding Abnormal circulating aldosterone Human Phenotype Ontology C0857898 HP:0040085 16 Feb 2016 Finding Abnormal circulating androgen level Human Phenotype Ontology C4072892 HP:0030347 16 Feb 2016 Finding Abnormal circulating beta globulin level Human Phenotype Ontology C4476797 HP:0025465 04 Apr 2018 Finding Abnormal circulating beta-C-terminal telopeptide level Human Phenotype Ontology C4531130 HP:0031424 04 Apr 2018 Finding Abnormal circulating creatinine level Human Phenotype Ontology C4021101 HP:0012100 16 Feb 2016 Finding Abnormal circulating deoxycorticosterone level Human Phenotype Ontology C4477025 HP:0031186 04 Apr 2018 Finding Abnormal circulating estrogen level Human Phenotype Ontology C4476605 HP:0025132 02 Apr 2017 Finding Abnormal circulating follicle-stimulating hormone level Human Phenotype Ontology C4072891 HP:0030346 16 Feb 2016 Finding Abnormal circulating free fatty acid level Human Phenotype Ontology C4477038 HP:0040300 04 Apr 2018 Finding Abnormal circulating gonadotropin level Human Phenotype Ontology C4072886 HP:0030338 16 Feb 2016 Finding Abnormal circulating hyaluronic acid concentration Human Phenotype Ontology C4531276 HP:0031210 04 Apr 2018 Finding Abnormal circulating inhibin level Human Phenotype Ontology C4477101 HP:0031099 04 Apr 2018 Finding Abnormal circulating insulin level Human Phenotype Ontology C4073161 HP:0040215 02 Apr 2017 Finding Abnormal circulating luteinizing hormone level Human Phenotype Ontology C0580438 HP:0030345 16 Feb 2016 Finding Abnormal circulating osteocalcin level Human Phenotype Ontology C4531127 HP:0031427 04 Apr 2018 Finding Abnormal circulating progesterone level Human Phenotype Ontology C4531274 HP:0031212 04 Apr 2018 Finding Abnormal circulating properdin level Human Phenotype Ontology C4531218 HP:0031300 04 Apr 2018 Finding Abnormal circulating renin Human Phenotype Ontology C4021038 HP:0040084 16 Feb 2016 Finding Abnormal circulating thyroglobulin level Human Phenotype Ontology C4476804 HP:0025483 04 Apr 2018 Finding Abnormal circulating thyroxine level Human Phenotype Ontology C4531080 HP:0031505 04 Apr 2018 Finding Abnormal class-switched memory B cell count Human Phenotype Ontology C4072924 HP:0030386 16 Feb 2016 Finding Abnormal CNS myelination Human Phenotype Ontology C4021152 HP:0011400 16 Feb 2016 Finding abnormal coagulation profile 14 Mar 2019 Finding Abnormal concentration of calcium in blood Human Phenotype Ontology C4022450 HP:0040077 16 Feb 2016 Finding Abnormal confrontational visual field test Human Phenotype Ontology C4073061 HP:0030589 16 Feb 2016 Finding Abnormal conjugate eye movement Human Phenotype Ontology C1845274 HP:0000549 16 Feb 2016 Finding Abnormal connection of the cardiac segments Human Phenotype Ontology C4023306 HP:0011545 16 Feb 2016 Finding Abnormal consumption behavior Human Phenotype Ontology C4073150 HP:0040202 02 Apr 2017 Finding Abnormal coronary artery course Human Phenotype Ontology C0345122 HP:0011686 16 Feb 2016 Finding Abnormal coronary artery morphology Human Phenotype Ontology C4531298 HP:0006704 04 Apr 2018 Finding Abnormal coronary artery physiology Human Phenotype Ontology C4476812 HP:0025496 04 Apr 2018 Finding Abnormal coronary sinus morphology Human Phenotype Ontology C0344680 HP:0011642 04 Apr 2018 Finding Abnormal cortical bone morphology Human Phenotype Ontology C4021741 HP:0003103 16 Feb 2016 Finding Abnormal cortical gyration Human Phenotype Ontology C1856019 HP:0002536 16 Feb 2016 Finding Abnormal cry Human Phenotype Ontology C0235939 HP:0025429 04 Apr 2018 Finding Abnormal CSF amyloid level Human Phenotype Ontology C4280740 HP:0030860 02 Apr 2017 Finding Abnormal CSF biopterin level Human Phenotype Ontology C4073155 HP:0040207 02 Apr 2017 Finding Abnormal CSF dopamine level Human Phenotype Ontology C4022802 HP:0012654 16 Feb 2016 Finding Abnormal CSF lactate level Human Phenotype Ontology C4022656 HP:0030085 16 Feb 2016 Finding Abnormal CSF metabolite level Human Phenotype Ontology C4476787 HP:0025454 04 Apr 2018 Finding Abnormal CSF neopterin level Human Phenotype Ontology C4073151 HP:0040203 02 Apr 2017 Finding Abnormal CSF protein level Human Phenotype Ontology C4476789 HP:0025456 04 Apr 2018 Finding Abnormal CSF/serum albumin ratio Human Phenotype Ontology C4476894 HP:0030981 04 Apr 2018 Finding Abnormal cutaneous collagen fibril morphology Human Phenotype Ontology C4531073 HP:0031512 04 Apr 2018 Finding Abnormal cutaneous elastic fiber morphology Human Phenotype Ontology C4476582 HP:0025082 02 Apr 2017 Finding Abnormal cytokine signaling Human Phenotype Ontology C4531145 HP:0031406 04 Apr 2018 Finding Abnormal dark-adapted bright flash electroretinogram Human Phenotype Ontology C4072960 HP:0030470 16 Feb 2016 Finding Abnormal dark-adapted dim flash electroretinogram Human Phenotype Ontology C4072961 HP:0030471 16 Feb 2016 Finding Abnormal dark-adapted electroretinogram Human Phenotype Ontology C4072959 HP:0030469 16 Feb 2016 Finding Abnormal delayed hypersensitivity skin test Human Phenotype Ontology C1833172 HP:0002963 16 Feb 2016 Finding Abnormal delivery Human Phenotype Ontology C0549629 HP:0001787 16 Feb 2016 Finding Abnormal dense granule content Human Phenotype Ontology C4021839 HP:0012529 16 Feb 2016 Finding Abnormal dense granules Human Phenotype Ontology C4022885 HP:0012484 16 Feb 2016 Finding Abnormal dense tubular system Human Phenotype Ontology C4022881 HP:0012491 16 Feb 2016 Finding Abnormal dermatoglyphics Human Phenotype Ontology C0432333 HP:0007477 16 Feb 2016 Finding Abnormal dermoepidermal junction morphology Human Phenotype Ontology C4531058 HP:0031538 04 Apr 2018 Finding Abnormal diaphysis morphology Human Phenotype Ontology C4021787 HP:0000940 16 Feb 2016 Finding Abnormal direction of ventricular apex Human Phenotype Ontology C4023275 HP:0011600 16 Feb 2016 Finding Abnormal distribution of CD56 bright/dim natural killer cells Human Phenotype Ontology C4531141 HP:0031410 04 Apr 2018 Finding Abnormal distribution of cell junction proteins in buccal mucosal cells Human Phenotype Ontology C4477067 HP:0410023 04 Apr 2018 Finding Abnormal distribution of retinal arterioles and venules Human Phenotype Ontology C3277463 HP:0007815 16 Feb 2016 Finding Abnormal DLCO Human Phenotype Ontology C4073173 HP:0045049 16 Feb 2016 Finding Abnormal double-negative alpha-beta regulatory T cell distribution Human Phenotype Ontology C4531150 HP:0031399 04 Apr 2018 Finding Abnormal drinking behavior Human Phenotype Ontology C4022657 HP:0030082 16 Feb 2016 Finding Abnormal ears 19 Jul 2018 Finding Abnormal eating behavior Human Phenotype Ontology C4021982 HP:0100738 16 Feb 2016 Finding Abnormal echocardiogram Human Phenotype Ontology C0476369 HP:0003116 16 Feb 2016 Finding Abnormal ejaculation Human Phenotype Ontology C2937350 HP:0012875 16 Feb 2016 Finding Abnormal EKG Human Phenotype Ontology C0522055 HP:0003115 16 Feb 2016 Finding Abnormal elasticity of skin Human Phenotype Ontology C4023760 HP:0010647 16 Feb 2016 Finding Abnormal electrooculogram Human Phenotype Ontology C0159104 HP:0030454 16 Feb 2016 Finding Abnormal electrophysiology of sinoatrial node origin Human Phenotype Ontology C4023222 HP:0011702 16 Feb 2016 Finding Abnormal electroretinogram Human Phenotype Ontology C0476397 HP:0000512 16 Feb 2016 Finding Abnormal emotion/affect behavior Human Phenotype Ontology C4020949 HP:0100851 16 Feb 2016 Finding Abnormal enchondral ossification Human Phenotype Ontology C4025628 HP:0003336 16 Feb 2016 Finding Abnormal endocrine morphology Human Phenotype Ontology C4476950 HP:0031071 04 Apr 2018 Finding Abnormal endocrine physiology Human Phenotype Ontology C4476951 HP:0031072 04 Apr 2018 Finding Abnormal energy expenditure Human Phenotype Ontology C4022949 HP:0012338 16 Feb 2016 Finding Abnormal enzyme/coenzyme activity Human Phenotype Ontology C4022922 HP:0012379 16 Feb 2016 Finding Abnormal epiphyseal ossification Human Phenotype Ontology C4021246 HP:0010656 16 Feb 2016 Finding Abnormal erythrocyte enzyme activity Human Phenotype Ontology C4022545 HP:0030272 16 Feb 2016 Finding Abnormal erythrocyte sedimentation rate Human Phenotype Ontology C0438217 HP:0025021 02 Apr 2017 Finding Abnormal erythrocyte volume Human Phenotype Ontology C0853655 HP:0025065 02 Apr 2017 Finding Abnormal Estermann grid perimetry test Human Phenotype Ontology C4073071 HP:0030599 16 Feb 2016 Finding abnormal exam of ears 05 Sep 2019 Finding Abnormal external genitalia Human Phenotype Ontology C4025825 HP:0000811 16 Feb 2016 Finding Abnormal eye morphology Human Phenotype Ontology C4022925 HP:0012372 16 Feb 2016 Finding Abnormal eye physiology Human Phenotype Ontology C4022924 HP:0012373 16 Feb 2016 Finding Abnormal eyebrow morphology Human Phenotype Ontology C4011556 HP:0000534 04 Apr 2018 Finding Abnormal facial artery morphology Human Phenotype Ontology C4073233 HP:3000024 04 Apr 2018 Finding Abnormal facial expression Human Phenotype Ontology C4025209 HP:0005346 16 Feb 2016 Finding abnormal facial features 05 Sep 2019 Finding Abnormal facial shape Human Phenotype Ontology C0424503 HP:0001999 16 Feb 2016 Finding Abnormal facial vein morphology Human Phenotype Ontology C4073251 HP:3000043 04 Apr 2018 Finding Abnormal facility in opposing the shoulders Human Phenotype Ontology C1861517 HP:0005259 16 Feb 2016 Finding Abnormal factor VIII activity Human Phenotype Ontology C4476889 HP:0030976 04 Apr 2018 Finding Abnormal fear/anxiety-related behavior Human Phenotype Ontology C4018849 HP:0100852 16 Feb 2016 Finding Abnormal feces C0162287 18 Jan 2019 Finding Abnormal female reproductive system physiology Human Phenotype Ontology C4022678 HP:0030012 16 Feb 2016 Finding Abnormal femoral torsion Human Phenotype Ontology C4476948 HP:0031069 04 Apr 2018 Finding Abnormal finger flexion creases Human Phenotype Ontology C1859481 HP:0006143 16 Feb 2016 Finding Abnormal flash visual evoked potentials Human Phenotype Ontology C4024772 HP:0007928 16 Feb 2016 Finding Abnormal flow cytometry test rest Human Phenotype Ontology C4531050 HP:0031550 04 Apr 2018 Finding Abnormal foot bone ossification Human Phenotype Ontology C4021241 HP:0010675 16 Feb 2016 Finding Abnormal foot position CN241075 31 Mar 2017 Finding Abnormal form of the vertebral bodies Human Phenotype Ontology C1839326 HP:0003312 16 Feb 2016 Finding Abnormal foveal morphology Human Phenotype Ontology C4025849 HP:0000493 04 Apr 2018 Finding Abnormal foveal morphology on macular OCT Human Phenotype Ontology C4073083 HP:0030613 16 Feb 2016 Finding Abnormal foveal pit on macular OCT Human Phenotype Ontology C4073092 HP:0030622 16 Feb 2016 Finding Abnormal fucosylation of O-linked protein glycosylation Human Phenotype Ontology C4022932 HP:0012359 16 Feb 2016 Finding Abnormal fucosylation of protein N-linked glycosylation Human Phenotype Ontology C4022939 HP:0012352 16 Feb 2016 Finding Abnormal full-field electroretinogram Human Phenotype Ontology C4072956 HP:0030466 16 Feb 2016 Finding Abnormal fundus autofluorescence imaging Human Phenotype Ontology C4073073 HP:0030602 16 Feb 2016 Finding Abnormal fundus fluorescein angiography Human Phenotype Ontology C4073074 HP:0030604 16 Feb 2016 Finding Abnormal gallbladder morphology Human Phenotype Ontology C4022904 HP:0012437 16 Feb 2016 Finding Abnormal gallbladder physiology Human Phenotype Ontology C4022903 HP:0012438 16 Feb 2016 Finding Abnormal gamma-glutamyl transferase 10 Jan 2020 Finding Abnormal gastrointestinal motility Human Phenotype Ontology C2749202 HP:0030895 02 Apr 2017 Finding Abnormal gastrointestinal transit time Human Phenotype Ontology C4293682 HP:0030896 02 Apr 2017 Finding Abnormal genital pigmentation Human Phenotype Ontology C4022965 HP:0012293 16 Feb 2016 Finding Abnormal germ cell morphology Human Phenotype Ontology C4022704 HP:0012862 16 Feb 2016 Finding Abnormal globe morphology Human Phenotype Ontology HP:0012374 04 Apr 2018 Finding Abnormal glomerular capillary morphology Human Phenotype Ontology C4293706 HP:0025006 02 Apr 2017 Finding Abnormal glomerular filtration rate Human Phenotype Ontology C0854050 HP:0012212 16 Feb 2016 Finding Abnormal glucagon level Human Phenotype Ontology C4073129 HP:0030687 02 Apr 2017 Finding abnormal glucose 14 Mar 2019 Finding Abnormal glucose homeostasis Human Phenotype Ontology C4023598 HP:0011014 16 Feb 2016 Finding Abnormal glucose tolerance Human Phenotype Ontology C0235401 HP:0001952 16 Feb 2016 Finding Abnormal glycosylation Human Phenotype Ontology C4022946 HP:0012345 16 Feb 2016 Finding Abnormal glycosylation (CDG IIa) CN228267 16 Feb 2016 Finding Abnormal great toe position CN241076 31 Mar 2017 Finding Abnormal greater palatine artery morphology Human Phenotype Ontology C4073257 HP:3000049 04 Apr 2018 Finding Abnormal hair laboratory examination Human Phenotype Ontology C4025632 HP:0003328 16 Feb 2016 Finding Abnormal hair pattern Human Phenotype Ontology C4023721 HP:0010720 16 Feb 2016 Finding Abnormal hair quantity Human Phenotype Ontology C4023397 HP:0011362 16 Feb 2016 Finding Abnormal hair whorl Human Phenotype Ontology C3280303 HP:0010721 16 Feb 2016 Finding Abnormal hand bone ossification Human Phenotype Ontology C4021244 HP:0010660 16 Feb 2016 Finding Abnormal hand morphology Human Phenotype Ontology C4025109 HP:0005922 16 Feb 2016 Finding Abnormal Hardy-Rand-Rittler plate test Human Phenotype Ontology C4073060 HP:0030587 16 Feb 2016 Finding Abnormal head movements Human Phenotype Ontology C0476217 HP:0002457 16 Feb 2016 Finding Abnormal heart morphology Human Phenotype Ontology C4021866 HP:0001627 02 Apr 2017 Disease Abnormal hemoglobin Human Phenotype Ontology C0349705 HP:0011902 16 Feb 2016 Finding Abnormal hepatic echogenicity Human Phenotype Ontology C4477001 HP:0031142 04 Apr 2018 Finding Abnormal hepatic glycogen storage Human Phenotype Ontology C4477087 HP:0500030 04 Apr 2018 Finding Abnormal hepatic iron concentration Human Phenotype Ontology C4022420 HP:0040134 16 Feb 2016 Finding Abnormal homeostasis Human Phenotype Ontology C4022950 HP:0012337 16 Feb 2016 Finding Abnormal humeral ossification Human Phenotype Ontology C4022722 HP:0012791 16 Feb 2016 Finding Abnormal humerus morphology Human Phenotype Ontology C4476966 HP:0031095 04 Apr 2018 Finding Abnormal Humphrey SITA 10-2 perimetry test Human Phenotype Ontology C4073070 HP:0030598 16 Feb 2016 Finding Abnormal Humphrey SITA 24-2 perimetry test Human Phenotype Ontology C4073069 HP:0030597 16 Feb 2016 Finding Abnormal Humphrey SITA 30-2 perimetry test Human Phenotype Ontology C4073068 HP:0030596 16 Feb 2016 Finding Abnormal hypothalamus morphology Human Phenotype Ontology C4021095 HP:0012286 16 Feb 2016 Finding Abnormal hypothalamus physiology Human Phenotype Ontology C4022968 HP:0012285 16 Feb 2016 Finding Abnormal immature B cell proportion Human Phenotype Ontology C4072915 HP:0030376 04 Apr 2018 Finding Abnormal immunoglobulin level Human Phenotype Ontology C1855755 HP:0010701 16 Feb 2016 Finding Abnormal incisura morphology Human Phenotype Ontology C4531263 HP:0031228 04 Apr 2018 Finding Abnormal indocyanine green angiography Human Phenotype Ontology C4073075 HP:0030605 16 Feb 2016 Finding Abnormal inferior thyroid vein morphology Human Phenotype Ontology C4073267 HP:3000059 04 Apr 2018 Finding Abnormal inflammatory response Human Phenotype Ontology C4022805 HP:0012647 16 Feb 2016 Finding Abnormal inner ear epithelium morphology Human Phenotype Ontology C4073211 HP:3000002 16 Feb 2016 Finding Abnormal insertion of umbilical cord Human Phenotype Ontology C0269852 HP:0011418 16 Feb 2016 Finding Abnormal insulin level Human Phenotype Ontology C4073160 HP:0040214 02 Apr 2017 Finding Abnormal insulin like growth factor binding protein acid labile subunit level Human Phenotype Ontology C4476922 HP:0031034 04 Apr 2018 Finding Abnormal intermamillary distance Human Phenotype Ontology C4022412 HP:0040157 16 Feb 2016 Finding Abnormal internal genitalia Human Phenotype Ontology C4025824 HP:0000812 16 Feb 2016 Finding Abnormal intramembranous ossification Human Phenotype Ontology C4021069 HP:0012790 16 Feb 2016 Finding Abnormal intraocular pressure Human Phenotype Ontology C0520999 HP:0012632 16 Feb 2016 Finding Abnormal involuntary eye movements Human Phenotype Ontology C4022855 HP:0012547 16 Feb 2016 Finding abnormal involuntary movement C0392702 18 Jan 2019 Finding abnormal involuntary movements 14 Mar 2019 Finding Abnormal iris pigmentation Human Phenotype Ontology C1834387 HP:0008034 16 Feb 2016 Finding Abnormal iris vasculature Human Phenotype Ontology C3275963 HP:0007905 16 Feb 2016 Finding Abnormal iron deposition in mitochondria Human Phenotype Ontology C3151556 HP:0008306 16 Feb 2016 Finding Abnormal Ishihara plate test Human Phenotype Ontology C4073059 HP:0030586 16 Feb 2016 Finding Abnormal isoelectric focusing of serum transferrin Human Phenotype Ontology C2749688 HP:0003160 16 Feb 2016 Finding Abnormal jaw morphology Human Phenotype Ontology C4280767 HP:0030791 02 Apr 2017 Finding Abnormal joint morphology Human Phenotype Ontology C0240083 HP:0001367 16 Feb 2016 Finding Abnormal jugular vein morphology Human Phenotype Ontology C4073250 HP:3000042 04 Apr 2018 Finding Abnormal jugular venous pressure Human Phenotype Ontology C0520860 HP:0030847 02 Apr 2017 Finding Abnormal kinetic perimetry test Human Phenotype Ontology C4073063 HP:0030591 16 Feb 2016 Finding Abnormal lacrimal artery morphology Human Phenotype Ontology C4073272 HP:3000065 04 Apr 2018 Finding Abnormal lacrimal duct morphology Human Phenotype Ontology C1858567 HP:0011481 04 Apr 2018 Finding Abnormal lacrimal sac morphology Human Phenotype Ontology C4073273 HP:3000066 04 Apr 2018 Finding Abnormal lactate dehydrogenase activity Human Phenotype Ontology C4073168 HP:0045040 16 Feb 2016 Finding Abnormal large intestinal mucosa morphology Human Phenotype Ontology C4476585 HP:0025090 02 Apr 2017 Finding Abnormal large intestine physiology Human Phenotype Ontology C4022766 HP:0012700 16 Feb 2016 Finding Abnormal larynx morphology Human Phenotype Ontology C4476768 HP:0025423 04 Apr 2018 Finding Abnormal larynx physiology Human Phenotype Ontology C4476769 HP:0025424 04 Apr 2018 Finding Abnormal layering of muscularis propria Human Phenotype Ontology C4476865 HP:0030936 02 Apr 2017 Finding Abnormal length of corpus callosum Human Phenotype Ontology C4021903 HP:0200011 16 Feb 2016 Finding Abnormal leukocyte count Human Phenotype Ontology C0580531 HP:0011893 16 Feb 2016 Finding Abnormal level of biopterin Human Phenotype Ontology C4073158 HP:0040210 02 Apr 2017 Finding Abnormal level of neopterin Human Phenotype Ontology C4073154 HP:0040206 02 Apr 2017 Finding Abnormal level of phospholipids Human Phenotype Ontology C4073141 HP:0040176 16 Feb 2016 Finding Abnormal level of platelet-activating factor Human Phenotype Ontology C4073142 HP:0040177 16 Feb 2016 Finding Abnormal levels of alpha-fetoprotein Human Phenotype Ontology C4073179 HP:0045056 16 Feb 2016 Finding Abnormal levels of creatine kinase in blood Human Phenotype Ontology C4022449 HP:0040081 16 Feb 2016 Finding Abnormal light- and dark-adapted electroretinogram Human Phenotype Ontology C3151111 HP:0008323 16 Feb 2016 Finding Abnormal light-adapted electroretinogram Human Phenotype Ontology C4024712 HP:0008275 16 Feb 2016 Finding Abnormal light-adapted flicker electroretinogram Human Phenotype Ontology C4072963 HP:0030473 16 Feb 2016 Finding Abnormal light-adapted single flash electroretinogram Human Phenotype Ontology C4072962 HP:0030472 16 Feb 2016 Finding Abnormal lingual artery morphology Human Phenotype Ontology C4073281 HP:3000074 04 Apr 2018 Finding Abnormal liver function tests during pregnancy Human Phenotype Ontology C4021883 HP:0200148 16 Feb 2016 Finding Abnormal liver lobulation Human Phenotype Ontology C0345286 HP:0100752 16 Feb 2016 Finding Abnormal liver morphology Human Phenotype Ontology C4531031 HP:0410042 04 Apr 2018 Finding Abnormal liver parenchyma morphology Human Phenotype Ontology C4022605 HP:0030146 16 Feb 2016 Finding Abnormal liver sonography Human Phenotype Ontology C4476999 HP:0031140 04 Apr 2018 Finding Abnormal localization of kidney Human Phenotype Ontology C4020968 HP:0100542 16 Feb 2016 Finding Abnormal location of ears Human Phenotype Ontology C4021810 HP:0000357 16 Feb 2016 Finding Abnormal location of the eyebrow Human Phenotype Ontology C4477036 HP:0040296 11 Aug 2017 Finding Abnormal lower motor neuron morphology Human Phenotype Ontology C1865412 HP:0002366 16 Feb 2016 Finding Abnormal lower-limb motor evoked potentials Human Phenotype Ontology C4021058 HP:0012898 16 Feb 2016 Finding Abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity 21 Dec 2019 Disease Abnormal lung lobation Human Phenotype Ontology CN001902 HP:0002101 16 Feb 2016 Finding Abnormal lymphatic vessel morphology Human Phenotype Ontology C4021974 HP:0100766 04 Apr 2018 Finding Abnormal lymphocyte apoptosis Human Phenotype Ontology C4280725 HP:0030886 02 Apr 2017 Finding Abnormal lymphocyte count Human Phenotype Ontology C0580550 HP:0040088 16 Feb 2016 Finding Abnormal lymphocyte physiology Human Phenotype Ontology C4531142 HP:0031409 04 Apr 2018 Finding Abnormal lymphocyte proliferation Human Phenotype Ontology C4531169 HP:0031378 04 Apr 2018 Finding Abnormal lymphocyte surface marker expression Human Phenotype Ontology C4531164 HP:0031383 04 Apr 2018 Finding Abnormal lysosomal morphology Human Phenotype Ontology C4531183 HP:0031340 04 Apr 2018 Finding Abnormal macrophage count Human Phenotype Ontology C4022509 HP:0030326 16 Feb 2016 Finding Abnormal macular morphology Human Phenotype Ontology C4520679 HP:0001103 04 Apr 2018 Finding Abnormal male germ cell morphology Human Phenotype Ontology C4022703 HP:0012863 16 Feb 2016 Finding Abnormal male reproductive system physiology Human Phenotype Ontology C4020716 HP:0012874 16 Feb 2016 Finding Abnormal mannosylation of N-linked protein glycosylation Human Phenotype Ontology C4022936 HP:0012355 16 Feb 2016 Finding Abnormal manual kinetic perimetry test Human Phenotype Ontology C4073065 HP:0030593 16 Feb 2016 Finding Abnormal marginal zone B cell count Human Phenotype Ontology C4072921 HP:0030383 16 Feb 2016 Finding Abnormal mast cell morphology Human Phenotype Ontology C1301149 HP:0100494 04 Apr 2018 Finding Abnormal maternal serum screening Human Phenotype Ontology C4023359 HP:0011436 16 Feb 2016 Finding Abnormal maternal serum screening MedGen UID:868945 22 Jun 2020 Finding Abnormal mean corpuscular hemoglobin Human Phenotype Ontology C0580549 HP:0025546 04 Apr 2018 Finding Abnormal meiosis Human Phenotype Ontology C4531070 HP:0031515 04 Apr 2018 Finding Abnormal memory B cell count Human Phenotype Ontology C4072912 HP:0030373 16 Feb 2016 Finding Abnormal metabolic brain imaging by MRS Human Phenotype Ontology C4022764 HP:0012705 16 Feb 2016 Finding Abnormal metacarpal morphology Human Phenotype Ontology C4021615 HP:0005916 16 Feb 2016 Finding Abnormal metaphyseal trabeculation Human Phenotype Ontology C1857139 HP:0005089 16 Feb 2016 Finding Abnormal metaphyseal vascular invasion Human Phenotype Ontology C3277127 HP:0003562 16 Feb 2016 Finding Abnormal metatarsal ossification Human Phenotype Ontology C4021543 HP:0008371 16 Feb 2016 Finding Abnormal MHC II surface expression Human Phenotype Ontology C4531025 HP:0031389 04 Apr 2018 Finding Abnormal middle ear reflexes Human Phenotype Ontology C1970887 HP:0004454 16 Feb 2016 Finding Abnormal migration of corneal endothelium Human Phenotype Ontology C4023331 HP:0011489 16 Feb 2016 Finding Abnormal mitochondria in muscle tissue Human Phenotype Ontology C4021546 HP:0008316 16 Feb 2016 Finding Abnormal mitochondrial morphology Human Phenotype Ontology C4014650 HP:0008322 16 Feb 2016 Finding Abnormal mitochondrial number Human Phenotype Ontology C4023043 HP:0012102 16 Feb 2016 Finding Abnormal mitochondrial shape Human Phenotype Ontology C4023050 HP:0012087 16 Feb 2016 Finding Abnormal mitral valve annulus morphology Human Phenotype Ontology C4531096 HP:0031478 04 Apr 2018 Finding Abnormal mitral valve leaflet morphology Human Phenotype Ontology C4531095 HP:0031480 04 Apr 2018 Finding Abnormal mitral valve physiology Human Phenotype Ontology C4531094 HP:0031481 04 Apr 2018 Finding Abnormal monocyte count Human Phenotype Ontology C0580319 HP:0012310 16 Feb 2016 Finding Abnormal morphology of bones of the lower limbs Human Phenotype Ontology C4022457 HP:0040066 16 Feb 2016 Finding Abnormal morphology of bones of the upper limbs Human Phenotype Ontology C4022458 HP:0040065 16 Feb 2016 Finding Abnormal morphology of Bowman capsule Human Phenotype Ontology C4531239 HP:0031264 04 Apr 2018 Finding Abnormal morphology of erythroid progenitor cell Human Phenotype Ontology C4293690 HP:0025034 02 Apr 2017 Finding Abnormal morphology of forearm bone Human Phenotype Ontology C4022451 HP:0040073 16 Feb 2016 Finding Abnormal morphology of left ventricular trabeculae Human Phenotype Ontology C4531288 HP:0031192 04 Apr 2018 Finding Abnormal morphology of myocardial trabeculae Human Phenotype Ontology C4073289 HP:0030681 02 Apr 2017 Finding Abnormal morphology of right ventricular trabeculae Human Phenotype Ontology C4531287 HP:0031193 04 Apr 2018 Finding Abnormal morphology of the cerebellar cortex Human Phenotype Ontology C4531132 HP:0031422 04 Apr 2018 Finding Abnormal morphology of the chordae tendinae of the mitral valve Human Phenotype Ontology C4476826 HP:0025523 04 Apr 2018 Finding Abnormal morphology of the cortex of the humerus Human Phenotype Ontology C4023770 HP:0010629 04 Apr 2018 Finding Abnormal morphology of the great vessels Human Phenotype Ontology C4476878 HP:0030962 04 Apr 2018 Finding Abnormal morphology of the hippocampus Human Phenotype Ontology C4476590 HP:0025100 02 Apr 2017 Finding Abnormal morphology of the left ventricle Human Phenotype Ontology C0344905 HP:0001711 04 Apr 2018 Finding Abnormal morphology of the limbic system Human Phenotype Ontology C1863392 HP:0007343 02 Apr 2017 Finding Abnormal morphology of the ocular adnexa Human Phenotype Ontology C4073120 HP:0030669 02 Apr 2017 Finding Abnormal morphology of the olfactory bulb Human Phenotype Ontology C4477050 HP:0040327 04 Apr 2018 Finding Abnormal morphology of the radius Human Phenotype Ontology C4022401 HP:0045009 16 Feb 2016 Finding Abnormal morphology of ulna Human Phenotype Ontology C4022453 HP:0040071 16 Feb 2016 Finding Abnormal motor evoked potentials Human Phenotype Ontology C4022687 HP:0012896 16 Feb 2016 Finding Abnormal motor nerve conduction velocity Human Phenotype Ontology C4021031 HP:0040131 16 Feb 2016 Finding Abnormal motor neuron morphology Human Phenotype Ontology C4025707 HP:0002450 16 Feb 2016 Finding abnormal movement disorders 14 Mar 2019 Finding abnormal movements 05 Sep 2019 Finding Abnormal movements of limbs 20 Jun 2019 Finding abnormal MRI 05 Sep 2019 Finding abnormal MRI head 05 Sep 2019 Finding Abnormal mucociliary clearance Human Phenotype Ontology C4703435 HP:0031602 04 Apr 2018 Finding Abnormal multifocal electroretinogram Human Phenotype Ontology C4072958 HP:0030468 16 Feb 2016 Finding Abnormal muscle fiber alpha dystroglycan Human Phenotype Ontology C4022633 HP:0030112 16 Feb 2016 Finding Abnormal muscle fiber alpha sarcoglycan Human Phenotype Ontology C4022645 HP:0030100 16 Feb 2016 Finding Abnormal muscle fiber beta sarcoglycan Human Phenotype Ontology C4022642 HP:0030103 16 Feb 2016 Finding Abnormal muscle fiber calpain-3 Human Phenotype Ontology C4022626 HP:0030119 16 Feb 2016 Finding Abnormal muscle fiber delta sarcoglycan Human Phenotype Ontology C4022640 HP:0030105 16 Feb 2016 Finding Abnormal muscle fiber desmin Human Phenotype Ontology C4022573 HP:0030224 16 Feb 2016 Finding Abnormal muscle fiber dysferlin Human Phenotype Ontology C4022632 HP:0030113 16 Feb 2016 Finding Abnormal muscle fiber dystrophin expression Human Phenotype Ontology C4022648 HP:0030096 16 Feb 2016 Finding Abnormal muscle fiber emerin Human Phenotype Ontology C4022629 HP:0030116 16 Feb 2016 Finding Abnormal muscle fiber gamma sarcoglycan Human Phenotype Ontology C4022641 HP:0030104 16 Feb 2016 Finding Abnormal muscle fiber lamin A/C Human Phenotype Ontology C4022622 HP:0030123 16 Feb 2016 Finding Abnormal muscle fiber laminin beta 1 Human Phenotype Ontology C4022650 HP:0030093 16 Feb 2016 Finding Abnormal muscle fiber merosin expression Human Phenotype Ontology C4022652 HP:0030090 16 Feb 2016 Finding Abnormal muscle fiber myotilin Human Phenotype Ontology C4022572 HP:0030226 16 Feb 2016 Finding Abnormal muscle fiber protein expression Human Phenotype Ontology C4022653 HP:0030089 16 Feb 2016 Finding Abnormal muscle fiber valosin-containing protein Human Phenotype Ontology C4022570 HP:0030228 16 Feb 2016 Finding Abnormal muscle glycogen content Human Phenotype Ontology C4022980 HP:0012269 16 Feb 2016 Finding Abnormal muscle tone Human Phenotype Ontology C0852413 HP:0003808 16 Feb 2016 Finding Abnormal myelination Human Phenotype Ontology C1857704 HP:0012447 16 Feb 2016 Finding Abnormal myocardium morphology Human Phenotype Ontology C4025758 HP:0001637 04 Apr 2018 Finding Abnormal nail growth Human Phenotype Ontology C1610609 HP:0030807 02 Apr 2017 Finding Abnormal naive B cell count Human Phenotype Ontology C4072909 HP:0030370 16 Feb 2016 Finding Abnormal naive T cell proportion Human Phenotype Ontology C4531153 HP:0031396 04 Apr 2018 Finding Abnormal nasal base Human Phenotype Ontology C4022718 HP:0012808 16 Feb 2016 Finding Abnormal nasal morphology Human Phenotype Ontology C4025252 HP:0005105 16 Feb 2016 Finding Abnormal nasal mucus secretion Human Phenotype Ontology C4531028 HP:0031416 04 Apr 2018 Finding Abnormal natural killer cell physiology Human Phenotype Ontology C4023012 HP:0012177 16 Feb 2016 Finding Abnormal natural killer morphology Human Phenotype Ontology C4021098 HP:0012176 04 Apr 2018 Finding Abnormal nerve conduction velocity Human Phenotype Ontology C1866772 HP:0040129 16 Feb 2016 Finding Abnormal nervous system electrophysiology Human Phenotype Ontology C4021781 HP:0001311 16 Feb 2016 Finding Abnormal neural tube morphology Human Phenotype Ontology C4531030 HP:0410043 04 Apr 2018 Finding Abnormal neuron branching Human Phenotype Ontology C4477089 HP:0500032 04 Apr 2018 Finding Abnormal neuron morphology Human Phenotype Ontology C4022739 HP:0012757 16 Feb 2016 Finding Abnormal neutrophil count Human Phenotype Ontology C0580316 HP:0011991 04 Apr 2018 Finding Abnormal nipple morphology Human Phenotype Ontology C3839073 HP:0004404 04 Apr 2018 Finding Abnormal number of alpha granules Human Phenotype Ontology C4022862 HP:0012528 16 Feb 2016 Finding Abnormal number of coronary ostia MONDO CN229303 MONDO:0020425 17 Apr 2020 Disease Abnormal number of dense granules Human Phenotype Ontology C4022861 HP:0012530 16 Feb 2016 Finding Abnormal number of erythroid precursors Human Phenotype Ontology C4023033 HP:0012131 16 Feb 2016 Finding Abnormal number of granulocyte precursors Human Phenotype Ontology C4023029 HP:0012137 16 Feb 2016 Finding Abnormal number of hair whorls Human Phenotype Ontology C4023695 HP:0010813 16 Feb 2016 Finding Abnormal number of incisors Human Phenotype Ontology C4023554 HP:0011064 16 Feb 2016 Finding Abnormal number of permanent teeth Human Phenotype Ontology C4023573 HP:0011044 16 Feb 2016 Finding Abnormal number of teeth Human Phenotype Ontology C1290508 HP:0006483 16 Feb 2016 Finding Abnormal number of tubercles Human Phenotype Ontology C4022431 HP:0040112 16 Feb 2016 Finding Abnormal number of vertebrae Human Phenotype Ontology C4022523 HP:0030304 16 Feb 2016 Finding Abnormal OCT-measured foveal thickness Human Phenotype Ontology C4073087 HP:0030617 16 Feb 2016 Finding Abnormal OCT-measured macular thickness Human Phenotype Ontology C4073076 HP:0030606 16 Feb 2016 Finding Abnormal onset of bleeding Human Phenotype Ontology C4280713 HP:0040231 02 Apr 2017 Finding Abnormal optical coherence tomography Human Phenotype Ontology C3665728 HP:0030603 16 Feb 2016 Finding Abnormal oral glucose tolerance Human Phenotype Ontology C1847425 HP:0004924 16 Feb 2016 Finding Abnormal origin of the coronary arteries Human Phenotype Ontology C4023253 HP:0011636 16 Feb 2016 Finding Abnormal origin of the pulmonary artery MONDO CN261643 MONDO:0015239 17 Apr 2020 Disease Abnormal origin or aberrant course of coronary artery MONDO MONDO:0019826 17 Apr 2020 Disease Abnormal ossification involving the femoral head and neck Human Phenotype Ontology C4024595 HP:0009107 16 Feb 2016 Finding Abnormal ossification of the pubic bone Human Phenotype Ontology C4024596 HP:0009105 16 Feb 2016 Finding Abnormal ossification of the sacrum Human Phenotype Ontology C4476736 HP:0025370 02 Apr 2017 Finding Abnormal ossification of the scaphoid Human Phenotype Ontology C4022407 HP:0045003 16 Feb 2016 Finding Abnormal ossification of the trapezium Human Phenotype Ontology C4022409 HP:0045001 16 Feb 2016 Finding Abnormal ossification of the trapezoid bone Human Phenotype Ontology C4022406 HP:0045004 16 Feb 2016 Finding Abnormal osteoclast count Human Phenotype Ontology C4022508 HP:0030327 16 Feb 2016 Finding Abnormal ovarian morphology Human Phenotype Ontology C4476944 HP:0031065 04 Apr 2018 Finding Abnormal ovarian physiology Human Phenotype Ontology C4476945 HP:0031066 04 Apr 2018 Finding Abnormal P wave Human Phenotype Ontology C4703432 HP:0031595 04 Apr 2018 Finding Abnormal P50/N95 ratio of pattern electroretinogram Human Phenotype Ontology C4072977 HP:0030487 16 Feb 2016 Finding abnormal palmar creases 16 May 2018 Finding Abnormal palmar dermal ridges Human Phenotype Ontology C4024833 HP:0007608 16 Feb 2016 Finding Abnormal palmar dermatoglyphics Human Phenotype Ontology C4025810 HP:0001018 16 Feb 2016 Finding Abnormal pancreas size Human Phenotype Ontology C4023046 HP:0012094 16 Feb 2016 Finding Abnormal pancreatic duct morphology Human Phenotype Ontology C4476900 HP:0030992 04 Apr 2018 Finding Abnormal paracentral response of multifocal electroretinogram Human Phenotype Ontology C4072979 HP:0030489 16 Feb 2016 Finding Abnormal pattern electroretinogram Human Phenotype Ontology C4072957 HP:0030467 16 Feb 2016 Finding Abnormal pattern of respiration Human Phenotype Ontology C1837388 HP:0002793 16 Feb 2016 Finding Abnormal pelvis bone morphology Human Phenotype Ontology C4073132 HP:0040163 16 Feb 2016 Finding Abnormal pelvis bone ossification Human Phenotype Ontology C4021525 HP:0009106 16 Feb 2016 Finding Abnormal pericardium morphology Human Phenotype Ontology C4025754 HP:0001697 04 Apr 2018 Finding Abnormal perifollicular morphology Human Phenotype Ontology C4531226 HP:0031285 04 Apr 2018 Finding Abnormal periosteum morphology Human Phenotype Ontology C4022515 HP:0030313 16 Feb 2016 Finding Abnormal peripheral action potential amplitude Human Phenotype Ontology C4022596 HP:0030179 16 Feb 2016 Finding Abnormal peripheral myelination Human Phenotype Ontology C4025648 HP:0003130 16 Feb 2016 Finding Abnormal peripheral nervous system morphology Human Phenotype Ontology C4025831 HP:0000759 16 Feb 2016 Finding Abnormal peripheral nervous system synaptic transmission Human Phenotype Ontology C4021046 HP:0030191 16 Feb 2016 Finding Abnormal peristalsis Human Phenotype Ontology C1291045 HP:0030914 02 Apr 2017 Finding Abnormal pigmentation of the oral mucosa Human Phenotype Ontology C4020959 HP:0100669 16 Feb 2016 Finding Abnormal pineal melatonin secretion Human Phenotype Ontology C4022777 HP:0012689 16 Feb 2016 Finding Abnormal pineal volume Human Phenotype Ontology C4022781 HP:0012684 16 Feb 2016 Finding Abnormal pinhole visual acuity test Human Phenotype Ontology C4073009 HP:0030535 16 Feb 2016 Finding Abnormal placental size Human Phenotype Ontology C4022732 HP:0012767 16 Feb 2016 Finding Abnormal plalelet phosphatidylserine exposure Human Phenotype Ontology C4476990 HP:0031131 04 Apr 2018 Finding Abnormal plantar dermatoglyphics Human Phenotype Ontology C4021258 HP:0010506 16 Feb 2016 Finding Abnormal platelet aggregation Human Phenotype Ontology C0541767 HP:0030402 16 Feb 2016 Finding Abnormal platelet alpha granule secretion Human Phenotype Ontology C4072932 HP:0030399 16 Feb 2016 Finding Abnormal platelet ATP dense granule secretion Human Phenotype Ontology C4072931 HP:0030398 16 Feb 2016 Finding Abnormal platelet count Human Phenotype Ontology C0580317 HP:0011873 16 Feb 2016 Finding Abnormal platelet dense granule ATP/ADP ratio Human Phenotype Ontology C4072934 HP:0030401 16 Feb 2016 Finding Abnormal platelet dense granule secretion Human Phenotype Ontology C4072930 HP:0030397 16 Feb 2016 Finding Abnormal platelet function Human Phenotype Ontology C0855740 HP:0011869 16 Feb 2016 Finding Abnormal platelet granule secretion Human Phenotype Ontology C4072929 HP:0030396 16 Feb 2016 Finding Abnormal platelet granules Human Phenotype Ontology C4023146 HP:0011883 16 Feb 2016 Finding Abnormal platelet lysosome secretion Human Phenotype Ontology C4072933 HP:0030400 16 Feb 2016 Finding Abnormal platelet membrane protein expression Human Phenotype Ontology C4023151 HP:0011878 16 Feb 2016 Finding Abnormal platelet morphology Human Phenotype Ontology C0855742 HP:0011875 16 Feb 2016 Finding Abnormal platelet shape Human Phenotype Ontology C4022866 HP:0012524 16 Feb 2016 Finding Abnormal platelet volume Human Phenotype Ontology C4023152 HP:0011876 16 Feb 2016 Finding Abnormal podocyte morphology Human Phenotype Ontology C4531238 HP:0031265 04 Apr 2018 Finding Abnormal position of hair whorl Human Phenotype Ontology C4023694 HP:0010814 16 Feb 2016 Finding Abnormal posterior segment imaging Human Phenotype Ontology C4073072 HP:0030601 16 Feb 2016 Finding abnormal posture 05 Sep 2019 Finding abnormal posture of hands while holding objects 13 Feb 2020 Finding Abnormal posturing Human Phenotype Ontology C0231471 HP:0002533 16 Feb 2016 Finding Abnormal PR interval Human Phenotype Ontology C4703431 HP:0031593 04 Apr 2018 Finding Abnormal PR segment Human Phenotype Ontology C4703433 HP:0031596 04 Apr 2018 Finding Abnormal prenatal cell-free DNA screen results 26 Jul 2019 Finding Abnormal presence of ultra-large von Willebrand factor multimers Human Phenotype Ontology C4022615 HP:0030133 02 Apr 2017 Finding Abnormal proerythroblast morphology Human Phenotype Ontology C4293689 HP:0025035 02 Apr 2017 Finding Abnormal prolactin level Human Phenotype Ontology C4022448 HP:0040086 16 Feb 2016 Finding Abnormal proportion of CD4 T cells Human Phenotype Ontology C4531156 HP:0031392 04 Apr 2018 Finding Abnormal proportion of CD8 T cells Human Phenotype Ontology C4531155 HP:0031393 04 Apr 2018 Finding Abnormal protein glycosylation Human Phenotype Ontology C4022945 HP:0012346 16 Feb 2016 Finding Abnormal protein N-linked glycosylation Human Phenotype Ontology C4022944 HP:0012347 16 Feb 2016 Finding Abnormal protein O-linked glycosylation Human Phenotype Ontology C4022933 HP:0012358 16 Feb 2016 Finding Abnormal pulmonary artery morphology Human Phenotype Ontology C4476881 HP:0030966 04 Apr 2018 Finding Abnormal pulmonary artery physiology Human Phenotype Ontology C4476882 HP:0030967 04 Apr 2018 Finding Abnormal pulmonary lymphatics Human Phenotype Ontology C4025026 HP:0006529 16 Feb 2016 Finding Abnormal pulmonary valve cusp morphology Human Phenotype Ontology C4531035 HP:0031566 04 Apr 2018 Finding Abnormal pulmonary valve morphology Human Phenotype Ontology C3164374 HP:0001641 04 Apr 2018 Finding Abnormal pulmonary vein morphology Human Phenotype Ontology C4476883 HP:0030968 04 Apr 2018 Finding Abnormal pulmonary vein physiology Human Phenotype Ontology C4476884 HP:0030969 04 Apr 2018 Finding Abnormal pulse pressure Human Phenotype Ontology C0855322 HP:0030850 02 Apr 2017 Finding Abnormal pupil morphology Human Phenotype Ontology C0154936 HP:0000615 04 Apr 2018 Finding Abnormal pupil shape Human Phenotype Ontology C0271134 HP:0025309 02 Apr 2017 Finding Abnormal pupillary function Human Phenotype Ontology C0917967 HP:0007686 16 Feb 2016 Finding Abnormal pupillary function (disease) MONDO MONDO:0001303 17 Apr 2020 Disease Abnormal pupillary light reflex Human Phenotype Ontology C1970591 HP:0007695 16 Feb 2016 Finding Abnormal pyramidal signs Human Phenotype Ontology C0234132 HP:0007256 16 Feb 2016 Finding Abnormal QRS complex Human Phenotype Ontology C4476580 HP:0025074 02 Apr 2017 Finding Abnormal QRS voltage Human Phenotype Ontology C4476581 HP:0025076 02 Apr 2017 Finding Abnormal QT interval Human Phenotype Ontology C4531051 HP:0031547 04 Apr 2018 Finding Abnormal radioactive iodine uptake test result Human Phenotype Ontology C4531268 HP:0031221 04 Apr 2018 Finding Abnormal rapid eye movement sleep Human Phenotype Ontology C0392188 HP:0002494 02 Apr 2017 Finding abnormal reflex C0034933 18 Aug 2017 Finding Abnormal regional left ventricular contraction Human Phenotype Ontology C4531093 HP:0031482 04 Apr 2018 Finding Abnormal renal artery morphology Human Phenotype Ontology C4024624 HP:0008776 04 Apr 2018 Finding Abnormal renal corpuscle morphology Human Phenotype Ontology C4531240 HP:0031263 04 Apr 2018 Finding Abnormal renal corticomedullary differentiation Human Phenotype Ontology C4025102 HP:0005932 16 Feb 2016 Finding Abnormal renal morphology Human Phenotype Ontology C4551596 HP:0012210 16 Feb 2016 Finding Abnormal renal physiology Human Phenotype Ontology CN168062 HP:0012211 16 Feb 2016 Finding Abnormal reproductive system morphology Human Phenotype Ontology C4021096 HP:0012243 04 Apr 2018 Finding Abnormal respiratory epithelium morphology Human Phenotype Ontology C4022991 HP:0012253 16 Feb 2016 Finding Abnormal respiratory motile cilium morphology Human Phenotype Ontology C4025100 HP:0005938 16 Feb 2016 Finding Abnormal respiratory motile cilium physiology Human Phenotype Ontology C4022984 HP:0012261 16 Feb 2016 Finding Abnormal respiratory system morphology Human Phenotype Ontology C4022992 HP:0012252 16 Feb 2016 Finding Abnormal response to ACTH stimulation test Human Phenotype Ontology C4476953 HP:0031074 04 Apr 2018 Finding Abnormal response to corticotropin releasing hormone stimulation test Human Phenotype Ontology C4476956 HP:0031077 04 Apr 2018 Finding Abnormal response to endocrine stimulation test Human Phenotype Ontology C4476952 HP:0031073 04 Apr 2018 Finding Abnormal response to glucagon stimulation test Human Phenotype Ontology C4476959 HP:0031080 04 Apr 2018 Finding Abnormal response to gonadotropin-releasing hormone stimulation test Human Phenotype Ontology C4531230 HP:0031279 04 Apr 2018 Finding Abnormal response to human chorionic gonadotrophin stimulation test Human Phenotype Ontology C4476962 HP:0031083 04 Apr 2018 Finding Abnormal response to insulin tolerance test Human Phenotype Ontology C4476954 HP:0031075 04 Apr 2018 Finding Abnormal response to short acting pulmonary vasodilator Human Phenotype Ontology C4293684 HP:0030893 02 Apr 2017 Finding Abnormal resting energy expenditure from metabolic cart test Human Phenotype Ontology C4477078 HP:0500019 04 Apr 2018 Finding Abnormal retinal artery morphology Human Phenotype Ontology C4021802 HP:0000630 04 Apr 2018 Finding Abnormal retinal correspondence MONDO C0155010 MONDO:0001565 17 Apr 2020 Disease Abnormal retinal morphology Human Phenotype Ontology C0035300 HP:0000479 04 Apr 2018 Finding Abnormal retinal morphology on macular OCT Human Phenotype Ontology C4073082 HP:0030612 16 Feb 2016 Finding Abnormal retinol-binding protein level Human Phenotype Ontology C4476919 HP:0031031 04 Apr 2018 Finding Abnormal rib ossification Human Phenotype Ontology C4022957 HP:0012306 16 Feb 2016 Finding Abnormal right cerebral peduncle 23 Jan 2020 Finding Abnormal sacral segmentation Human Phenotype Ontology C1968942 HP:0008468 16 Feb 2016 Finding Abnormal salivary gland morphology Human Phenotype Ontology C0149772 HP:0010286 04 Apr 2018 Finding Abnormal scrotal rugation Human Phenotype Ontology C4022707 HP:0012856 16 Feb 2016 Finding Abnormal sensory nerve conduction velocity Human Phenotype Ontology C4022421 HP:0040132 16 Feb 2016 Finding Abnormal serum bile acid concentration Human Phenotype Ontology C4477099 HP:0030984 04 Apr 2018 Finding Abnormal serum dehydroepiandrosterone level Human Phenotype Ontology C4477081 HP:0500022 04 Apr 2018 Finding Abnormal serum estradiol Human Phenotype Ontology C0857963 HP:0025133 02 Apr 2017 Finding Abnormal serum estriol Human Phenotype Ontology C4476606 HP:0025135 02 Apr 2017 Finding Abnormal serum estrone Human Phenotype Ontology C4476609 HP:0025138 02 Apr 2017 Finding Abnormal serum ferritin Human Phenotype Ontology C0853228 HP:0040133 16 Feb 2016 Finding Abnormal serum insulin-like growth factor 1 level Human Phenotype Ontology C4072896 HP:0030352 16 Feb 2016 Finding Abnormal serum interferon level Human Phenotype Ontology C4072898 HP:0030354 16 Feb 2016 Finding Abnormal serum interferon-gamma level Human Phenotype Ontology C4072899 HP:0030355 16 Feb 2016 Finding Abnormal serum interleukin level Human Phenotype Ontology C4280772 HP:0030782 02 Apr 2017 Finding Abnormal serum iron Human Phenotype Ontology C0235760 HP:0040130 16 Feb 2016 Finding Abnormal serum testosterone level Human Phenotype Ontology C0580454 HP:0030087 16 Feb 2016 Finding Abnormal sex determination Human Phenotype Ontology C4022996 HP:0012244 16 Feb 2016 Finding Abnormal sex hormone-binding globulin level Human Phenotype Ontology C4531027 HP:0031438 04 Apr 2018 Finding Abnormal shape of the frontal region Human Phenotype Ontology C4023458 HP:0011218 16 Feb 2016 Finding Abnormal shape of the occiput Human Phenotype Ontology C4023459 HP:0011217 16 Feb 2016 Finding Abnormal shape of the palpebral fissure Human Phenotype Ontology C4021905 HP:0200005 16 Feb 2016 Finding Abnormal shape of the radius Human Phenotype Ontology C4022402 HP:0045008 16 Feb 2016 Finding Abnormal sialylation of N-linked protein glycosylation Human Phenotype Ontology C4022942 HP:0012349 16 Feb 2016 Finding Abnormal sialylation of O-linked protein glycosylation Human Phenotype Ontology C4022929 HP:0012362 16 Feb 2016 Finding Abnormal size of nasopharyngeal adenoids Human Phenotype Ontology C4280692 HP:0040257 02 Apr 2017 Finding Abnormal size of pituitary gland Human Phenotype Ontology C4022874 HP:0012504 16 Feb 2016 Finding Abnormal size of the clitoris Human Phenotype Ontology C4280696 HP:0040252 02 Apr 2017 Finding Abnormal size of the palpebral fissures Human Phenotype Ontology C4021904 HP:0200007 16 Feb 2016 Finding Abnormal size the dental root Human Phenotype Ontology C4280723 HP:0040220 02 Apr 2017 Finding Abnormal small intestinal mucosa morphology Human Phenotype Ontology C4476603 HP:0025129 02 Apr 2017 Finding Abnormal social behavior Human Phenotype Ontology C4021087 HP:0012433 16 Feb 2016 Finding Abnormal spaced incisors Human Phenotype Ontology C4022410 HP:0040159 16 Feb 2016 Finding Abnormal spatial orientation of the cardiac segments Human Phenotype Ontology C4023313 HP:0011534 16 Feb 2016 Finding Abnormal speech discrimination Human Phenotype Ontology C1836752 HP:0001963 16 Feb 2016 Finding Abnormal speech prosody Human Phenotype Ontology C4531122 HP:0031434 04 Apr 2018 Finding Abnormal sperm morphology Human Phenotype Ontology C0403824 HP:0012864 16 Feb 2016 Finding Abnormal sperm motility Human Phenotype Ontology C0855512 HP:0012206 16 Feb 2016 Finding Abnormal spermatogenesis Human Phenotype Ontology C0520933 HP:0008669 16 Feb 2016 Finding Abnormal spleen morphology Human Phenotype Ontology C4476761 HP:0025408 04 Apr 2018 Finding Abnormal spleen physiology Human Phenotype Ontology C4476762 HP:0025409 04 Apr 2018 Finding Abnormal ST segment Human Phenotype Ontology C4022993 HP:0012249 16 Feb 2016 Finding Abnormal static automated perimetry test Human Phenotype Ontology C4073067 HP:0030595 16 Feb 2016 Finding Abnormal static perimetry test Human Phenotype Ontology C4073064 HP:0030592 16 Feb 2016 Finding Abnormal stereopsis Human Phenotype Ontology C4023319 HP:0011515 16 Feb 2016 Finding Abnormal sternal ossification Human Phenotype Ontology C1860243 HP:0011863 16 Feb 2016 Finding Abnormal subclavian artery morphology Human Phenotype Ontology C4531248 HP:0031251 04 Apr 2018 Finding Abnormal subcutaneous fat tissue distribution Human Phenotype Ontology C1859347 HP:0007552 16 Feb 2016 Finding Abnormal sudomotor regulation Human Phenotype Ontology C4021092 HP:0012333 16 Feb 2016 Finding Abnormal surface-connected open canalicular system Human Phenotype Ontology C4021840 HP:0012485 16 Feb 2016 Finding Abnormal sweat electrolytes Human Phenotype Ontology C4022422 HP:0040128 16 Feb 2016 Finding Abnormal sweat homeostasis Human Phenotype Ontology C4022423 HP:0040127 16 Feb 2016 Finding Abnormal synaptic transmission Human Phenotype Ontology C4021083 HP:0012535 16 Feb 2016 Finding Abnormal synaptic transmission at the neuromuscular junction Human Phenotype Ontology C4025618 HP:0003398 16 Feb 2016 Finding Abnormal systemic arterial morphology Human Phenotype Ontology C4021205 HP:0011004 04 Apr 2018 Finding Abnormal systemic blood pressure Human Phenotype Ontology C4476887 HP:0030972 04 Apr 2018 Finding Abnormal T cell activation Human Phenotype Ontology C4531032 HP:0410035 04 Apr 2018 Finding Abnormal T cell morphology Human Phenotype Ontology C1855752 HP:0002843 04 Apr 2018 Finding Abnormal T cell proliferation Human Phenotype Ontology C4531168 HP:0031379 04 Apr 2018 Finding Abnormal T cell subset distribution Human Phenotype Ontology C4476840 HP:0025540 04 Apr 2018 Finding Abnormal T-wave Human Phenotype Ontology C1839341 HP:0005135 02 Apr 2017 Finding Abnormal T3/T4 ratio Human Phenotype Ontology C4022847 HP:0012558 16 Feb 2016 Finding Abnormal tarsal bone mineral density Human Phenotype Ontology C4021522 HP:0009132 16 Feb 2016 Finding Abnormal tarsal ossification Human Phenotype Ontology C4021544 HP:0008369 16 Feb 2016 Finding Abnormal telomere morphology Human Phenotype Ontology C4531139 HP:0031412 04 Apr 2018 Finding Abnormal temper tantrums Human Phenotype Ontology C4476625 HP:0025160 02 Apr 2017 Finding Abnormal tendon morphology Human Phenotype Ontology C4021026 HP:0100261 16 Feb 2016 Finding Abnormal test result Human Phenotype Ontology C0850610 HP:0500014 04 Apr 2018 Finding Abnormal thalamic MRI signal intensity Human Phenotype Ontology C4022770 HP:0012696 16 Feb 2016 Finding Abnormal thalamic size Human Phenotype Ontology C4022773 HP:0012693 16 Feb 2016 Finding Abnormal thoracic duct morphology Human Phenotype Ontology C4531231 HP:0031278 04 Apr 2018 Finding Abnormal threshold of rods MONDO C0155019 MONDO:0001396 17 Apr 2020 Disease Abnormal thrombosis Human Phenotype Ontology C4025731 HP:0001977 16 Feb 2016 Finding Abnormal thumb morphology 12 Jun 2020 Finding abnormal thumbs 05 Sep 2019 Finding Abnormal thyroid hormone level Human Phenotype Ontology C4531077 HP:0031508 04 Apr 2018 Finding Abnormal thyroid-stimulating hormone level Human Phenotype Ontology C4476968 HP:0031097 04 Apr 2018 Finding Abnormal timing of dark-adapted bright flash electroretinogram Human Phenotype Ontology C4072967 HP:0030477 16 Feb 2016 Finding Abnormal timing of dark-adapted dim flash electroretinogram Human Phenotype Ontology C4072965 HP:0030475 16 Feb 2016 Finding Abnormal timing of flash visual evoked potentials Human Phenotype Ontology C4072951 HP:0030461 16 Feb 2016 Finding Abnormal timing of light-adapted flicker electroretinogram Human Phenotype Ontology C4072970 HP:0030480 16 Feb 2016 Finding Abnormal timing of light-adapted single flash electroretinogram Human Phenotype Ontology C4072972 HP:0030482 16 Feb 2016 Finding Abnormal timing of pattern electroretinogram Human Phenotype Ontology C4072976 HP:0030486 16 Feb 2016 Finding Abnormal timing of pattern onset/offset visual evoked potentials Human Phenotype Ontology C4072949 HP:0030458 16 Feb 2016 Finding Abnormal timing of pattern reversal visual evoked potentials Human Phenotype Ontology C4072950 HP:0030460 16 Feb 2016 Finding Abnormal toenail morphology Human Phenotype Ontology C3839753 HP:0008388 04 Apr 2018 Finding Abnormal tongue morphology Human Phenotype Ontology C4280755 HP:0030809 02 Apr 2017 Finding Abnormal tongue physiology Human Phenotype Ontology C4280754 HP:0030810 02 Apr 2017 Finding Abnormal trabecular bone morphology Human Phenotype Ontology C4020957 HP:0100671 16 Feb 2016 Finding Abnormal transferrin saturation Human Phenotype Ontology C4022419 HP:0040135 16 Feb 2016 Finding Abnormal transitional B cell count Human Phenotype Ontology C4072918 HP:0030379 16 Feb 2016 Finding Abnormal tricuspid chordae tendinae morphology Human Phenotype Ontology C4531116 HP:0031442 04 Apr 2018 Finding Abnormal tricuspid valve annulus morphology Human Phenotype Ontology C4531117 HP:0031441 04 Apr 2018 Finding Abnormal tricuspid valve leaflet morphology Human Phenotype Ontology C4531115 HP:0031443 04 Apr 2018 Finding Abnormal tricuspid valve morphology Human Phenotype Ontology HP:0031440 04 Apr 2018 Finding Abnormal U wave Human Phenotype Ontology C3827674 HP:0025070 02 Apr 2017 Finding Abnormal umbilical cord blood vessels Human Phenotype Ontology C4023372 HP:0011403 16 Feb 2016 Finding Abnormal umbilical stump bleeding Human Phenotype Ontology C4023145 HP:0011884 16 Feb 2016 Finding Abnormal unaided visual acuity test Human Phenotype Ontology C4073007 HP:0030533 16 Feb 2016 Finding Abnormal upper motor neuron morphology Human Phenotype Ontology C4025723 HP:0002127 16 Feb 2016 Finding Abnormal upper to lower segment ratio Human Phenotype Ontology C4022728 HP:0012772 16 Feb 2016 Finding Abnormal upper-limb motor evoked potentials Human Phenotype Ontology C4021059 HP:0012897 16 Feb 2016 Finding Abnormal urinary acylglycine profile Human Phenotype Ontology C4023057 HP:0012073 16 Feb 2016 Finding Abnormal urinary color Human Phenotype Ontology C0522153 HP:0012086 16 Feb 2016 Finding Abnormal urinary copper concentration Human Phenotype Ontology C4073165 HP:0045036 16 Feb 2016 Finding Abnormal urinary electrolyte concentration Human Phenotype Ontology C4022833 HP:0012591 16 Feb 2016 Finding Abnormal urinary odor Human Phenotype Ontology C0278045 HP:0012088 16 Feb 2016 Finding Abnormal urinary sulfate concentration Human Phenotype Ontology C4022821 HP:0012612 16 Feb 2016 Finding Abnormal urine alpha-ketoglutarate concentration Human Phenotype Ontology C4020902 HP:0012401 16 Feb 2016 Finding Abnormal urine chloride concentration Human Phenotype Ontology C4022827 HP:0012600 16 Feb 2016 Finding Abnormal urine citrate concentration Human Phenotype Ontology C4022913 HP:0012404 16 Feb 2016 Finding Abnormal urine cytology Human Phenotype Ontology C0587955 HP:0012614 16 Feb 2016 Finding Abnormal urine magnesium concentration Human Phenotype Ontology C4022823 HP:0012607 16 Feb 2016 Finding Abnormal urine output Human Phenotype Ontology C3693260 HP:0012590 16 Feb 2016 Finding Abnormal urine phosphate concentration Human Phenotype Ontology C4022828 HP:0012599 16 Feb 2016 Finding Abnormal urine potassium concentration Human Phenotype Ontology C4022829 HP:0012598 16 Feb 2016 Finding Abnormal urine sodium concentration Human Phenotype Ontology C4022825 HP:0012603 16 Feb 2016 Finding Abnormal uterus morphology Human Phenotype Ontology C4476974 HP:0031105 04 Apr 2018 Finding Abnormal vas deferens morphology Human Phenotype Ontology C4022697 HP:0012872 16 Feb 2016 Finding Abnormal vasa vasorum morphology Human Phenotype Ontology C4531102 HP:0031465 04 Apr 2018 Finding Abnormal vascular morphology Human Phenotype Ontology C4293699 HP:0025015 02 Apr 2017 Finding Abnormal vascular physiology Human Phenotype Ontology C4022603 HP:0030163 16 Feb 2016 Finding Abnormal vena cava morphology Human Phenotype Ontology C4476886 HP:0005345 04 Apr 2018 Finding Abnormal vena cava physiology Human Phenotype Ontology C4476885 HP:0030970 04 Apr 2018 Finding Abnormal venous morphology Human Phenotype Ontology C0241665 HP:0002624 04 Apr 2018 Finding Abnormal ventricular filling Human Phenotype Ontology C4025005 HP:0006683 16 Feb 2016 Finding Abnormal ventricular myocardium morphology Human Phenotype Ontology C4531205 HP:0031316 04 Apr 2018 Finding Abnormal ventricular septum morphology Human Phenotype Ontology C4021264 HP:0010438 04 Apr 2018 Finding Abnormal ventriculo-arterial connection Human Phenotype Ontology C2959359 HP:0011563 16 Feb 2016 Finding Abnormal vertebral artery morphology Human Phenotype Ontology C4022512 HP:0030321 04 Apr 2018 Finding Abnormal vertebral morphology Human Phenotype Ontology C1834129 HP:0003468 04 Apr 2018 Finding Abnormal vertebral ossification Human Phenotype Ontology C4020966 HP:0100569 16 Feb 2016 Finding Abnormal vertebral pedicle morphology Human Phenotype Ontology C4022541 HP:0030277 16 Feb 2016 Finding Abnormal vertebral segmentation and fusion Human Phenotype Ontology C4025167 HP:0005640 16 Feb 2016 Finding Abnormal vestibular saccule morphology Human Phenotype Ontology C4476902 HP:0030999 04 Apr 2018 Finding Abnormal vestibulo-ocular reflex Human Phenotype Ontology C4021571 HP:0007670 16 Feb 2016 Finding Abnormal vision CN240387 01 Feb 2017 Finding Abnormal visual accommodation Human Phenotype Ontology C4280760 HP:0030800 02 Apr 2017 Finding Abnormal visual electrophysiology Human Phenotype Ontology C4072945 HP:0030453 16 Feb 2016 Finding Abnormal visual field test Human Phenotype Ontology C0854021 HP:0030588 16 Feb 2016 Finding Abnormal visual fixation Human Phenotype Ontology C4477094 HP:0025404 04 Apr 2018 Finding Abnormal vitamin B12 level Human Phenotype Ontology C4021032 HP:0040126 04 Apr 2018 Finding Abnormal von Willebrand factor multimer distribution Human Phenotype Ontology C4022617 HP:0030131 02 Apr 2017 Finding abnormal weight gain 18 Jan 2019 Finding abnormal weight loss C0936227 18 Jan 2019 Finding abnormal white matter signal changes 20 Nov 2018 Finding abnormalities in posture of hands and feet 11 May 2019 Finding Abnormalities of placenta or umbilical cord Human Phenotype Ontology C4025798 HP:0001194 16 Feb 2016 Finding Abnormalities of the diaphyses of the hand Human Phenotype Ontology C4025106 HP:0005925 16 Feb 2016 Finding Abnormalities of the metaphyses of the hand Human Phenotype Ontology C4025108 HP:0005923 16 Feb 2016 Finding Abnormality iris morphology Human Phenotype Ontology C4025845 HP:0000525 04 Apr 2018 Finding Abnormality of abdomen morphology Human Phenotype Ontology C4020869 HP:0001438 02 Apr 2017 Finding Abnormality of abdominal situs Human Phenotype Ontology C4023266 HP:0011620 16 Feb 2016 Finding Abnormality of acetylcarnitine metabolism Human Phenotype Ontology C5139063 HP:0012071 16 Feb 2016 Finding Abnormality of acid-base homeostasis Human Phenotype Ontology C0001118 HP:0004360 16 Feb 2016 Finding Abnormality of adipose tissue Human Phenotype Ontology C4021524 HP:0009124 16 Feb 2016 Finding Abnormality of adrenal morphology Human Phenotype Ontology C4023213 HP:0011732 16 Feb 2016 Finding Abnormality of adrenal physiology Human Phenotype Ontology C4023212 HP:0011733 16 Feb 2016 Finding Abnormality of alanine metabolism Human Phenotype Ontology C4023654 HP:0010916 16 Feb 2016 Finding Abnormality of alkaline phosphatase activity Human Phenotype Ontology C4025328 HP:0004379 16 Feb 2016 Finding Abnormality of amino acid metabolism Human Phenotype Ontology C1328440 HP:0004337 16 Feb 2016 Finding Abnormality of angular artery Human Phenotype Ontology C4073232 HP:3000023 16 Feb 2016 Finding Abnormality of anterior ethmoidal artery Human Phenotype Ontology C4073287 HP:3000031 16 Feb 2016 Finding Abnormality of arginine metabolism Human Phenotype Ontology C4023659 HP:0010909 16 Feb 2016 Finding Abnormality of aromatic amino acid family metabolism Human Phenotype Ontology C4025352 HP:0004338 16 Feb 2016 Finding Abnormality of artery of lower lip Human Phenotype Ontology C4073264 HP:3000056 16 Feb 2016 Finding Abnormality of aspartate family amino acid metabolism Human Phenotype Ontology C5139044 HP:0010899 16 Feb 2016 Finding Abnormality of axial muscles Human Phenotype Ontology C4477030 HP:0040286 04 Apr 2018 Finding Abnormality of B cell number Human Phenotype Ontology C4021208 HP:0010975 16 Feb 2016 Finding Abnormality of B cell physiology Human Phenotype Ontology C1849242 HP:0005372 16 Feb 2016 Finding Abnormality of B cells Human Phenotype Ontology C4021748 HP:0002846 16 Feb 2016 Finding Abnormality of basophils Human Phenotype Ontology C0855997 HP:0001912 16 Feb 2016 Finding Abnormality of binocular vision Human Phenotype Ontology C4023320 HP:0011514 16 Feb 2016 Finding Abnormality of bladder morphology Human Phenotype Ontology C4476807 HP:0025487 04 Apr 2018 Finding Abnormality of blood and blood-forming tissues Human Phenotype Ontology C0850715 HP:0001871 16 Feb 2016 Finding Abnormality of blood circulation Human Phenotype Ontology C4023585 HP:0011028 16 Feb 2016 Finding Abnormality of blood glucose concentration Human Phenotype Ontology C4023597 HP:0011015 16 Feb 2016 Finding Abnormality of blood volume homeostasis Human Phenotype Ontology C4023537 HP:0011104 16 Feb 2016 Finding Abnormality of body height Human Phenotype Ontology C4025901 HP:0000002 16 Feb 2016 Finding Abnormality of body mass index Human Phenotype Ontology C3805014 HP:0045081 02 Apr 2017 Finding Abnormality of body weight Human Phenotype Ontology C4025357 HP:0004323 16 Feb 2016 Finding Abnormality of bone marrow cell morphology Human Phenotype Ontology C4021634 HP:0005561 16 Feb 2016 Finding Abnormality of bone marrow stromal cells Human Phenotype Ontology C4023034 HP:0012129 16 Feb 2016 Finding Abnormality of bone mineral density Human Phenotype Ontology C4021657 HP:0004348 16 Feb 2016 Finding Abnormality of bony orbit of skull Human Phenotype Ontology C4073239 HP:3000030 16 Feb 2016 Finding Abnormality of brain morphology Human Phenotype Ontology C4021085 HP:0012443 16 Feb 2016 Finding Abnormality of brainstem morphology Human Phenotype Ontology C1850601 HP:0002363 16 Feb 2016 Finding Abnormality of branched chain family amino acid metabolism Human Phenotype Ontology C5139042 HP:0010892 16 Feb 2016 Finding Abnormality of buccal fat pad Human Phenotype Ontology C4073230 HP:3000021 16 Feb 2016 Finding Abnormality of buccal mucosa Human Phenotype Ontology C4073228 HP:3000019 16 Feb 2016 Finding Abnormality of buccinator muscle Human Phenotype Ontology C4073236 HP:3000027 16 Feb 2016 Finding Abnormality of calcium homeostasis Human Phenotype Ontology C4025337 HP:0004363 16 Feb 2016 Finding Abnormality of calcium-phosphate metabolism Human Phenotype Ontology C5139417 HP:0100530 16 Feb 2016 Finding Abnormality of calvarial morphology Human Phenotype Ontology C4025692 HP:0002648 16 Feb 2016 Finding Abnormality of canine Human Phenotype Ontology C4023546 HP:0011078 16 Feb 2016 Finding Abnormality of carbohydrate metabolism/homeostasis Human Phenotype Ontology C5139058 HP:0011013 16 Feb 2016 Finding Abnormality of carboxylic acid metabolism Human Phenotype Ontology C5139039 HP:0004354 16 Feb 2016 Finding Abnormality of cardiac atrium Human Phenotype Ontology C4025246 HP:0005120 16 Feb 2016 Finding Abnormality of cardiovascular system electrophysiology Human Phenotype Ontology C4476872 HP:0030956 04 Apr 2018 Finding Abnormality of cardiovascular system morphology Human Phenotype Ontology C4049796 HP:0030680 02 Apr 2017 Finding Abnormality of cardiovascular system physiology Human Phenotype Ontology C4023587 HP:0011025 16 Feb 2016 Finding Abnormality of carnitine metabolism Human Phenotype Ontology C5139053 HP:0010967 16 Feb 2016 Finding Abnormality of carpal bone ossification Human Phenotype Ontology C4025075 HP:0006257 16 Feb 2016 Finding Abnormality of cartilage morphology Human Phenotype Ontology C4073186 HP:0410007 02 Apr 2017 Finding Abnormality of cartilage of external ear Human Phenotype Ontology C4073231 HP:3000022 16 Feb 2016 Finding Abnormality of cartilage of nasal septum Human Phenotype Ontology C4073242 HP:3000034 16 Feb 2016 Finding Abnormality of cation homeostasis Human Phenotype Ontology C4023646 HP:0010929 16 Feb 2016 Finding Abnormality of cell physiology Human Phenotype Ontology C4023595 HP:0011017 16 Feb 2016 Finding Abnormality of cells of the erythroid lineage Human Phenotype Ontology C4020862 HP:0012130 16 Feb 2016 Finding Abnormality of cells of the granulocytic lineage Human Phenotype Ontology C4023031 HP:0012135 16 Feb 2016 Finding Abnormality of cells of the megakaryocyte lineage Human Phenotype Ontology C4023026 HP:0012143 16 Feb 2016 Finding Abnormality of cells of the monocyte/macrophage lineage Human Phenotype Ontology C4023025 HP:0012144 16 Feb 2016 Finding Abnormality of cellular immune system Human Phenotype Ontology C4023612 HP:0010987 16 Feb 2016 Finding Abnormality of central motor conduction Human Phenotype Ontology C4023055 HP:0012079 16 Feb 2016 Finding Abnormality of central motor function Human Phenotype Ontology C4023354 HP:0011442 16 Feb 2016 Finding Abnormality of central nervous system electrophysiology Human Phenotype Ontology C4022597 HP:0030178 16 Feb 2016 Finding Abnormality of central retinal artery Human Phenotype Ontology C4073240 HP:3000032 16 Feb 2016 Finding Abnormality of central sensory function Human Phenotype Ontology C4023215 HP:0011730 16 Feb 2016 Finding Abnormality of central somatosensory evoked potentials Human Phenotype Ontology C4022163 HP:0100291 16 Feb 2016 Finding Abnormality of cerebral veins Human Phenotype Ontology C4022888 HP:0012480 16 Feb 2016 Finding Abnormality of cerebrosidase metabolism Human Phenotype Ontology C4025349 HP:0004344 16 Feb 2016 Finding Abnormality of cervical plexus Human Phenotype Ontology C4073243 HP:3000035 16 Feb 2016 Finding Abnormality of chemokine secretion Human Phenotype Ontology C4023532 HP:0011115 16 Feb 2016 Finding Abnormality of chloride homeostasis Human Phenotype Ontology C4023367 HP:0011422 16 Feb 2016 Finding Abnormality of cholesterol metabolism Human Phenotype Ontology C4025656 HP:0003107 16 Feb 2016 Finding Abnormality of chorioretinal pigmentation Human Phenotype Ontology C4024819 HP:0007661 16 Feb 2016 Finding Abnormality of chromosome condensation Human Phenotype Ontology C4023593 HP:0011019 16 Feb 2016 Finding Abnormality of chromosome segregation Human Phenotype Ontology C4025670 HP:0002916 16 Feb 2016 Finding Abnormality of chromosome stability Human Phenotype Ontology C4551705 HP:0003220 16 Feb 2016 Finding Abnormality of ciliary ganglion Human Phenotype Ontology C4073234 HP:3000025 16 Feb 2016 Finding Abnormality of circle of Willis Human Phenotype Ontology C4022868 HP:0012518 16 Feb 2016 Finding Abnormality of circulating adrenocorticotropin level Human Phenotype Ontology C4023574 HP:0011043 16 Feb 2016 Finding Abnormality of circulating beta-2-microglobulin level Human Phenotype Ontology C4476715 HP:0025345 02 Apr 2017 Finding Abnormality of circulating catecholamine level Human Phenotype Ontology C4021102 HP:0012099 16 Feb 2016 Finding Abnormality of circulating corticosterone level Human Phenotype Ontology C4023037 HP:0012112 16 Feb 2016 Finding Abnormality of circulating cortisol level Human Phenotype Ontology C4023214 HP:0011731 16 Feb 2016 Finding Abnormality of circulating enzyme level Human Phenotype Ontology C4023591 HP:0011021 16 Feb 2016 Finding Abnormality of circulating fibrinogen Human Phenotype Ontology C4023139 HP:0011898 16 Feb 2016 Finding Abnormality of circulating glucocorticoid level Human Phenotype Ontology C4023038 HP:0012111 16 Feb 2016 Finding Abnormality of circulating hormone level Human Phenotype Ontology C4025652 HP:0003117 16 Feb 2016 Finding Abnormality of circulating leptin level Human Phenotype Ontology C4025339 HP:0004361 16 Feb 2016 Finding Abnormality of circulating pregnenolone level Human Phenotype Ontology C4477026 HP:0031187 04 Apr 2018 Finding Abnormality of circulating protein level Human Phenotype Ontology C4023679 HP:0010876 16 Feb 2016 Finding Abnormality of citrulline metabolism Human Phenotype Ontology C5139062 HP:0011965 16 Feb 2016 Finding Abnormality of coagulation Human Phenotype Ontology C1846821 HP:0001928 16 Feb 2016 Finding Abnormality of cochlea Human Phenotype Ontology C4025858 HP:0000375 16 Feb 2016 Finding Abnormality of color vision Human Phenotype Ontology C0234629 HP:0000551 16 Feb 2016 Finding Abnormality of complement system Human Phenotype Ontology C4025213 HP:0005339 16 Feb 2016 Finding Abnormality of connective tissue Human Phenotype Ontology C4025596 HP:0003549 16 Feb 2016 Finding Abnormality of coordination Human Phenotype Ontology C4023353 HP:0011443 16 Feb 2016 Finding Abnormality of copper homeostasis Human Phenotype Ontology C4023689 HP:0010836 16 Feb 2016 Finding Abnormality of corneal endothelium Human Phenotype Ontology C4023332 HP:0011488 16 Feb 2016 Finding Abnormality of corneal epithelium Human Phenotype Ontology C4023326 HP:0011495 16 Feb 2016 Finding Abnormality of corneal shape Human Phenotype Ontology C4022500 HP:0040004 16 Feb 2016 Finding Abnormality of corneal size Human Phenotype Ontology C4025802 HP:0001120 16 Feb 2016 Finding Abnormality of corneal stroma Human Phenotype Ontology C4023328 HP:0011492 16 Feb 2016 Finding Abnormality of corneal thickness Human Phenotype Ontology C4023333 HP:0011486 16 Feb 2016 Finding Abnormality of corpus callosum 18 Jul 2019 Disease Abnormality of corpus cavernosum Human Phenotype Ontology C4022009 HP:0100623 16 Feb 2016 Finding Abnormality of cranial ganglion Human Phenotype Ontology C4073195 HP:0410016 16 Feb 2016 Finding Abnormality of cranial sutures Human Phenotype Ontology C4023412 HP:0011329 16 Feb 2016 Finding Abnormality of creatine metabolism Human Phenotype Ontology C4020731 HP:0012113 16 Feb 2016 Finding Abnormality of cricoid cartilage Human Phenotype Ontology C4073246 HP:3000038 16 Feb 2016 Finding Abnormality of cysteine metabolism Human Phenotype Ontology C5139050 HP:0010918 16 Feb 2016 Finding Abnormality of cytokine secretion Human Phenotype Ontology C4023534 HP:0011113 16 Feb 2016 Finding Abnormality of dental color Human Phenotype Ontology C4023551 HP:0011073 16 Feb 2016 Finding Abnormality of dental enamel Human Phenotype Ontology C4021800 HP:0000682 16 Feb 2016 Finding Abnormality of dental eruption Human Phenotype Ontology C1859363 HP:0006292 16 Feb 2016 Finding Abnormality of dental morphology Human Phenotype Ontology C0040427 HP:0006482 16 Feb 2016 Finding Abnormality of dental structure Human Phenotype Ontology C4023557 HP:0011061 16 Feb 2016 Finding Abnormality of dentin Human Phenotype Ontology C4021299 HP:0010299 16 Feb 2016 Finding Abnormality of depressor anguli oris muscle Human Phenotype Ontology C4073237 HP:3000028 16 Feb 2016 Finding Abnormality of depressor labii inferioris Human Phenotype Ontology C4073238 HP:3000029 16 Feb 2016 Finding Abnormality of dermal melanosomes Human Phenotype Ontology C4023525 HP:0011125 16 Feb 2016 Finding Abnormality of Descemet's membrane Human Phenotype Ontology C4023330 HP:0011490 16 Feb 2016 Finding Abnormality of dicarboxylic acid metabolism Human Phenotype Ontology C5139055 HP:0010995 16 Feb 2016 Finding Abnormality of digestive system morphology Human Phenotype Ontology C4293691 HP:0025033 02 Apr 2017 Finding Abnormality of digestive system physiology Human Phenotype Ontology C4293692 HP:0025032 02 Apr 2017 Finding Abnormality of digit Human Phenotype Ontology C3550704 HP:0011297 16 Feb 2016 Finding Abnormality of divalent inorganic cation homeostasis Human Phenotype Ontology C4023648 HP:0010927 16 Feb 2016 Finding Abnormality of DNA repair Human Phenotype Ontology C4021848 HP:0003254 16 Feb 2016 Finding Abnormality of dorsal nasal artery Human Phenotype Ontology C4073247 HP:3000039 16 Feb 2016 Finding Abnormality of dorsoventral patterning of the limbs Human Phenotype Ontology C4022174 HP:0100270 16 Feb 2016 Finding Abnormality of ductus venosus blood flow Human Phenotype Ontology C4023632 HP:0010947 16 Feb 2016 Finding Abnormality of earlobe Human Phenotype Ontology C4021808 HP:0000363 16 Feb 2016 Finding Abnormality of eicosanoid metabolism Human Phenotype Ontology C4072901 HP:0030361 16 Feb 2016 Finding Abnormality of endocrine pancreas physiology Human Phenotype Ontology C4023047 HP:0012093 16 Feb 2016 Finding Abnormality of enteric ganglion morphology Human Phenotype Ontology C4293671 HP:0004362 02 Apr 2017 Finding Abnormality of enteric nervous system morphology Human Phenotype Ontology C4293693 HP:0025028 02 Apr 2017 Finding Abnormality of enteric neuron morphology Human Phenotype Ontology C4293670 HP:0025029 02 Apr 2017 Finding Abnormality of eosinophils Human Phenotype Ontology C0855999 HP:0001879 16 Feb 2016 Finding Abnormality of epidermal morphology Human Phenotype Ontology C4023526 HP:0011124 16 Feb 2016 Finding Abnormality of epiphysis morphology Human Phenotype Ontology C4021611 HP:0005930 16 Feb 2016 Finding Abnormality of erythrocytes Human Phenotype Ontology C0391870 HP:0001877 16 Feb 2016 Finding Abnormality of esophagus morphology Human Phenotype Ontology C4721383 HP:0002031 02 Apr 2017 Finding Abnormality of esophagus physiology Human Phenotype Ontology C4476684 HP:0025270 02 Apr 2017 Finding Abnormality of ethmoid bone Human Phenotype Ontology C4021869 HP:0430005 16 Feb 2016 Finding Abnormality of ethmoid sinus Human Phenotype Ontology C4073248 HP:3000040 16 Feb 2016 Finding Abnormality of exocrine pancreas physiology Human Phenotype Ontology C4021103 HP:0012092 16 Feb 2016 Finding Abnormality of external carotid artery Human Phenotype Ontology C4073249 HP:3000041 16 Feb 2016 Finding Abnormality of external jugular vein Human Phenotype Ontology C4073206 HP:0430024 16 Feb 2016 Finding Abnormality of extrapyramidal motor function Human Phenotype Ontology C0234133 HP:0002071 16 Feb 2016 Finding Abnormality of extrinsic muscle of tongue Human Phenotype Ontology C4073140 HP:0040174 16 Feb 2016 Finding Abnormality of eye movement Human Phenotype Ontology C0497202 HP:0000496 16 Feb 2016 Finding Abnormality of facial adipose tissue Human Phenotype Ontology C4025866 HP:0000291 16 Feb 2016 Finding Abnormality of facial musculature Human Phenotype Ontology C4025865 HP:0000301 16 Feb 2016 Finding Abnormality of facial skeleton Human Phenotype Ontology C2315229 HP:0011821 16 Feb 2016 Finding Abnormality of facial soft tissue Human Phenotype Ontology C4023183 HP:0011799 16 Feb 2016 Finding Abnormality of fatty-acid anion metabolism Human Phenotype Ontology C4021209 HP:0010966 16 Feb 2016 Finding Abnormality of fatty-acid metabolism Human Phenotype Ontology C4021656 HP:0004359 16 Feb 2016 Finding Abnormality of female external genitalia Human Phenotype Ontology C4021822 HP:0000055 16 Feb 2016 Finding Abnormality of female internal genitalia Human Phenotype Ontology C4025900 HP:0000008 16 Feb 2016 Finding Abnormality of femoral epiphysis Human Phenotype Ontology C4025034 HP:0006499 16 Feb 2016 Finding Abnormality of femur morphology Human Phenotype Ontology C4021750 HP:0002823 04 Apr 2018 Finding Abnormality of fibrinolysis Human Phenotype Ontology C4280719 HP:0040224 02 Apr 2017 Finding Abnormality of fibula morphology Human Phenotype Ontology C4025664 HP:0002991 04 Apr 2018 Finding Abnormality of fibular epiphyses Human Phenotype Ontology C4023780 HP:0010593 16 Feb 2016 Finding Abnormality of finger Human Phenotype Ontology C2674737 HP:0001167 16 Feb 2016 Finding Abnormality of fluid regulation Human Phenotype Ontology C2364164 HP:0011032 16 Feb 2016 Finding Abnormality of folate in blood Human Phenotype Ontology C4021037 HP:0040087 16 Feb 2016 Finding Abnormality of folate metabolism Human Phenotype Ontology C4022951 HP:0012335 16 Feb 2016 Finding Abnormality of fontanelles Human Phenotype Ontology C4020755 HP:0011328 16 Feb 2016 Finding Abnormality of foot cortical bone Human Phenotype Ontology C4476706 HP:0025332 02 Apr 2017 Finding Abnormality of forearm bone Human Phenotype Ontology C4022452 HP:0040072 16 Feb 2016 Finding Abnormality of forebrain morphology Human Phenotype Ontology C4020967 HP:0100547 16 Feb 2016 Finding Abnormality of foveal pigmentation Human Phenotype Ontology C4072981 HP:0030493 16 Feb 2016 Finding Abnormality of frontal process of maxilla Human Phenotype Ontology C4073252 HP:3000044 16 Feb 2016 Finding Abnormality of frontal sinus Human Phenotype Ontology C4025689 HP:0002687 16 Feb 2016 Finding Abnormality of frontalis muscle belly Human Phenotype Ontology C4073213 HP:3000004 16 Feb 2016 Finding Abnormality of fundus pigmentation Human Phenotype Ontology C4703439 HP:0031605 04 Apr 2018 Finding abnormality of gait 14 Mar 2019 Finding Abnormality of galactoside metabolism Human Phenotype Ontology C4025351 HP:0004342 16 Feb 2016 Finding Abnormality of ganglion Human Phenotype Ontology C4073193 HP:0410014 16 Feb 2016 Finding Abnormality of ganglion of peripheral nervous system Human Phenotype Ontology C4073194 HP:0410015 16 Feb 2016 Finding Abnormality of ganglioside metabolism Human Phenotype Ontology C5139036 HP:0004345 16 Feb 2016 Finding Abnormality of gastrointestinal vasculature Human Phenotype Ontology C4025361 HP:0004296 16 Feb 2016 Finding Abnormality of genioglossus muscle Human Phenotype Ontology C4073253 HP:3000045 16 Feb 2016 Finding Abnormality of geniohyoid muscle Human Phenotype Ontology C4073254 HP:3000046 16 Feb 2016 Finding Abnormality of globe location Human Phenotype Ontology C4021946 HP:0100886 16 Feb 2016 Finding Abnormality of globe size Human Phenotype Ontology C4021945 HP:0100887 16 Feb 2016 Finding Abnormality of glossopharyngeal nerve Human Phenotype Ontology C4073255 HP:3000047 16 Feb 2016 Finding Abnormality of glucagon secretion MONDO C0154191 MONDO:0001962 17 Apr 2020 Disease Abnormality of glutamine family amino acid metabolism Human Phenotype Ontology C5139045 HP:0010902 16 Feb 2016 Finding Abnormality of glutamine metabolism Human Phenotype Ontology C5139046 HP:0010903 16 Feb 2016 Finding Abnormality of glycine metabolism Human Phenotype Ontology C5139043 HP:0010895 16 Feb 2016 Finding Abnormality of glycolipid metabolism Human Phenotype Ontology C4023621 HP:0010969 16 Feb 2016 Finding Abnormality of glycolysis Human Phenotype Ontology C4025334 HP:0004366 16 Feb 2016 Finding Abnormality of glycoprotein metabolism Human Phenotype Ontology HP:0004367 16 Feb 2016 Finding Abnormality of glycosaminoglycan metabolism Human Phenotype Ontology C4025330 HP:0004371 16 Feb 2016 Finding Abnormality of glycoside metabolism Human Phenotype Ontology C4025584 HP:0003649 16 Feb 2016 Finding Abnormality of glycosphingolipid metabolism Human Phenotype Ontology C4025350 HP:0004343 16 Feb 2016 Finding Abnormality of gonadotropin-releasing hormone level Human Phenotype Ontology C4477073 HP:0500012 04 Apr 2018 Finding Abnormality of granulocytes Human Phenotype Ontology C4551567 HP:0001911 16 Feb 2016 Finding Abnormality of great auricular nerve Human Phenotype Ontology C4073256 HP:3000048 16 Feb 2016 Finding Abnormality of growth plate morphology Human Phenotype Ontology C4476734 HP:0025368 02 Apr 2017 Finding Abnormality of hair density Human Phenotype Ontology C4023401 HP:0011357 16 Feb 2016 Finding Abnormality of hair growth Human Phenotype Ontology C4073136 HP:0040170 16 Feb 2016 Finding Abnormality of hair growth rate Human Phenotype Ontology C4023396 HP:0011363 16 Feb 2016 Finding Abnormality of hair pigmentation Human Phenotype Ontology C4024172 HP:0009887 16 Feb 2016 Finding Abnormality of hair texture Human Phenotype Ontology C4023722 HP:0010719 16 Feb 2016 Finding Abnormality of hand cortical bone Human Phenotype Ontology C4025105 HP:0005926 02 Apr 2017 Finding Abnormality of hand joint mobility Human Phenotype Ontology C4025076 HP:0006256 16 Feb 2016 Finding Abnormality of head blood vessel Human Phenotype Ontology C4073244 HP:3000036 16 Feb 2016 Finding Abnormality of head or neck Human Phenotype Ontology C4021817 HP:0000152 16 Feb 2016 Finding Abnormality of hepatobiliary system physiology Human Phenotype Ontology C4476621 HP:0025155 02 Apr 2017 Finding Abnormality of higher mental function Human Phenotype Ontology C4023352 HP:0011446 16 Feb 2016 Finding Abnormality of hindbrain morphology Human Phenotype Ontology C4021170 HP:0011282 16 Feb 2016 Finding Abnormality of histidine metabolism Human Phenotype Ontology C4023662 HP:0010904 16 Feb 2016 Finding Abnormality of homocysteine metabolism Human Phenotype Ontology C4023651 HP:0010919 16 Feb 2016 Finding Abnormality of humoral immunity Human Phenotype Ontology C3150510 HP:0005368 16 Feb 2016 Finding Abnormality of hyoglossus muscle Human Phenotype Ontology C4073259 HP:3000051 16 Feb 2016 Finding Abnormality of hyoid bone Human Phenotype Ontology C4073260 HP:3000052 16 Feb 2016 Finding Abnormality of hypopharynx Human Phenotype Ontology C4073261 HP:3000053 16 Feb 2016 Finding Abnormality of immune serum protein physiology Human Phenotype Ontology C4023536 HP:0011111 16 Feb 2016 Finding Abnormality of immune system physiology Human Phenotype Ontology C4023616 HP:0010978 16 Feb 2016 Finding Abnormality of incisor morphology Human Phenotype Ontology C4023555 HP:0011063 16 Feb 2016 Finding Abnormality of inferior alveolar artery Human Phenotype Ontology C4073262 HP:3000054 16 Feb 2016 Finding Abnormality of inferior alveolar nerve Human Phenotype Ontology C4073263 HP:3000055 16 Feb 2016 Finding Abnormality of inferior crus of antihelix Human Phenotype Ontology C4021191 HP:0011243 16 Feb 2016 Finding Abnormality of inferior oblique extraocular muscle Human Phenotype Ontology C4073265 HP:3000057 16 Feb 2016 Finding Abnormality of inferior rectus extraocular muscle Human Phenotype Ontology C4073266 HP:3000058 16 Feb 2016 Finding Abnormality of infra-orbital nerve Human Phenotype Ontology C4073269 HP:3000061 16 Feb 2016 Finding Abnormality of infraorbital artery Human Phenotype Ontology C4073268 HP:3000060 16 Feb 2016 Finding Abnormality of interferon secretion Human Phenotype Ontology C4023531 HP:0011116 16 Feb 2016 Finding Abnormality of interleukin secretion Human Phenotype Ontology C4023530 HP:0011117 16 Feb 2016 Finding Abnormality of internal carotid artery Human Phenotype Ontology C1860488 HP:3000062 16 Feb 2016 Finding Abnormality of internal jugular vein Human Phenotype Ontology C4073270 HP:3000063 16 Feb 2016 Finding Abnormality of intestinal smooth muscle morphology Human Phenotype Ontology C4476864 HP:0030935 02 Apr 2017 Finding Abnormality of intracranial pressure Human Phenotype Ontology C4022809 HP:0012640 16 Feb 2016 Finding Abnormality of intrinsic muscle of tongue Human Phenotype Ontology C4073271 HP:3000064 16 Feb 2016 Finding Abnormality of ion homeostasis Human Phenotype Ontology C1704431 HP:0003111 16 Feb 2016 Finding Abnormality of iron homeostasis Human Phenotype Ontology C4023583 HP:0011031 16 Feb 2016 Finding Abnormality of isoleucine metabolism Human Phenotype Ontology C5139048 HP:0010912 16 Feb 2016 Finding Abnormality of jaw muscles Human Phenotype Ontology C4073166 HP:0045037 16 Feb 2016 Finding Abnormality of joint mobility Human Phenotype Ontology C4023216 HP:0011729 16 Feb 2016 Finding Abnormality of Krebs cycle metabolism Human Phenotype Ontology C4021795 HP:0000816 16 Feb 2016 Finding Abnormality of lateral crico-arytenoid Human Phenotype Ontology C4073274 HP:3000067 16 Feb 2016 Finding Abnormality of lateral pterygoid muscle Human Phenotype Ontology C4073275 HP:3000068 16 Feb 2016 Finding Abnormality of lateral rectus extra-ocular muscle Human Phenotype Ontology C4073276 HP:3000069 16 Feb 2016 Finding Abnormality of lateral ventricle Human Phenotype Ontology C4022662 HP:0030047 16 Feb 2016 Finding Abnormality of lens shape Human Phenotype Ontology C4023314 HP:0011526 16 Feb 2016 Finding Abnormality of leucine metabolism Human Phenotype Ontology C5139040 HP:0004357 16 Feb 2016 Finding Abnormality of leukocytes Human Phenotype Ontology C0152009 HP:0001881 16 Feb 2016 Finding Abnormality of leukotriene metabolism Human Phenotype Ontology C5139109 HP:0030390 16 Feb 2016 Finding Abnormality of levator anguli oris Human Phenotype Ontology C4073277 HP:3000070 16 Feb 2016 Finding Abnormality of levator labii superioris Human Phenotype Ontology C4073278 HP:3000071 16 Feb 2016 Finding Abnormality of levator labii superioris alaeque nasi muscle Human Phenotype Ontology C4073202 HP:0430020 16 Feb 2016 Finding Abnormality of levator palpebrae superioris Human Phenotype Ontology C4073279 HP:3000072 16 Feb 2016 Finding Abnormality of levator veli palatini muscle Human Phenotype Ontology C4073280 HP:3000073 16 Feb 2016 Finding Abnormality of limb bone Human Phenotype Ontology C4022456 HP:0040068 16 Feb 2016 Finding Abnormality of limb bone morphology Human Phenotype Ontology C4082761 HP:0002813 16 Feb 2016 Finding Abnormality of limb epiphysis morphology Human Phenotype Ontology C4021593 HP:0006505 16 Feb 2016 Finding Abnormality of limbs Human Phenotype Ontology C1387925 HP:0040064 16 Feb 2016 Finding Abnormality of lingual nerve Human Phenotype Ontology C4073282 HP:3000075 16 Feb 2016 Finding Abnormality of lingual tonsil Human Phenotype Ontology C4073283 HP:3000076 16 Feb 2016 Finding Abnormality of lipid metabolism Human Phenotype Ontology C4025650 HP:0003119 16 Feb 2016 Finding Abnormality of liposaccharide metabolism Human Phenotype Ontology C4023622 HP:0010968 16 Feb 2016 Finding Abnormality of long bone morphology Human Phenotype Ontology C4021165 HP:0011314 16 Feb 2016 Finding Abnormality of long-chain fatty-acid metabolism Human Phenotype Ontology C5139650 HP:0010964 16 Feb 2016 Finding Abnormality of lower eyelashes Human Phenotype Ontology C4022466 HP:0040052 16 Feb 2016 Finding Abnormality of lower limb bone Human Phenotype Ontology C4022455 HP:0040069 16 Feb 2016 Finding Abnormality of lower limb epiphysis morphology Human Phenotype Ontology C4021595 HP:0006500 16 Feb 2016 Finding Abnormality of lower limb joint Human Phenotype Ontology C4020971 HP:0100491 16 Feb 2016 Finding Abnormality of lower lip Human Phenotype Ontology C4025883 HP:0000178 16 Feb 2016 Finding Abnormality of lower-limb metaphyses Human Phenotype Ontology C4025039 HP:0006490 16 Feb 2016 Finding Abnormality of lymphocytes Human Phenotype Ontology C0221277 HP:0004332 16 Feb 2016 Finding Abnormality of lysine metabolism Human Phenotype Ontology C4023660 HP:0010908 16 Feb 2016 Finding Abnormality of lysosomal metabolism Human Phenotype Ontology C4025342 HP:0004356 16 Feb 2016 Finding Abnormality of macrophages Human Phenotype Ontology C4021661 HP:0004311 16 Feb 2016 Finding Abnormality of macular pigmentation Human Phenotype Ontology C4024756 HP:0008002 16 Feb 2016 Finding Abnormality of macular vasculature Human Phenotype Ontology C4072983 HP:0030495 16 Feb 2016 Finding Abnormality of magnesium homeostasis Human Phenotype Ontology C4025274 HP:0004921 16 Feb 2016 Finding Abnormality of malar bones Human Phenotype Ontology C4022926 HP:0012369 16 Feb 2016 Finding Abnormality of male external genitalia Human Phenotype Ontology C4025897 HP:0000032 16 Feb 2016 Finding Abnormality of male internal genitalia Human Phenotype Ontology C4025899 HP:0000022 16 Feb 2016 Finding Abnormality of mandible condylar process Human Phenotype Ontology C4073284 HP:3000077 16 Feb 2016 Finding Abnormality of mandible coronoid process Human Phenotype Ontology C4073285 HP:3000078 16 Feb 2016 Finding Abnormality of mandibular ramus Human Phenotype Ontology C4073212 HP:3000003 16 Feb 2016 Finding Abnormality of mandibular symphysis Human Phenotype Ontology C4073286 HP:3000079 16 Feb 2016 Finding Abnormality of masseter muscle Human Phenotype Ontology C4073214 HP:3000005 16 Feb 2016 Finding Abnormality of masticatory muscle Human Phenotype Ontology C4073190 HP:0410011 16 Feb 2016 Finding Abnormality of medial pterygoid muscle Human Phenotype Ontology C4073215 HP:3000006 16 Feb 2016 Finding Abnormality of medullary pyramid morphology Human Phenotype Ontology C4476730 HP:0025361 02 Apr 2017 Finding Abnormality of mentalis muscle Human Phenotype Ontology C4073216 HP:3000007 16 Feb 2016 Finding Abnormality of mesenteric lymph nodes Human Phenotype Ontology C4476562 HP:0025042 02 Apr 2017 Finding Abnormality of mesentery morphology Human Phenotype Ontology C4293672 HP:0100016 02 Apr 2017 Finding Abnormality of metabolism/homeostasis Human Phenotype Ontology C4021768 HP:0001939 16 Feb 2016 Finding Abnormality of metacarpal epiphyses Human Phenotype Ontology C4025110 HP:0005913 16 Feb 2016 Finding Abnormality of metacarpophalangeal joint Human Phenotype Ontology C4023132 HP:0011911 16 Feb 2016 Finding Abnormality of metatarsal epiphysis Human Phenotype Ontology C4021248 HP:0010630 16 Feb 2016 Finding Abnormality of methionine metabolism Human Phenotype Ontology C4023665 HP:0010901 16 Feb 2016 Finding Abnormality of midbrain morphology Human Phenotype Ontology C4021755 HP:0002418 16 Feb 2016 Finding Abnormality of mitochondrial metabolism Human Phenotype Ontology C4021734 HP:0003287 16 Feb 2016 Finding Abnormality of molar Human Phenotype Ontology C4023547 HP:0011077 16 Feb 2016 Finding Abnormality of molar morphology Human Phenotype Ontology C4023553 HP:0011070 16 Feb 2016 Finding Abnormality of monocarboxylic acid metabolism Human Phenotype Ontology C5139056 HP:0010996 16 Feb 2016 Finding Abnormality of monovalent inorganic cation homeostasis Human Phenotype Ontology C4023645 HP:0010930 16 Feb 2016 Finding Abnormality of mouth shape Human Phenotype Ontology C4023407 HP:0011338 16 Feb 2016 Finding Abnormality of mouth size Human Phenotype Ontology C4023408 HP:0011337 16 Feb 2016 Finding Abnormality of mucopolysaccharide metabolism Human Phenotype Ontology C4023592 HP:0011020 16 Feb 2016 Finding Abnormality of multiple cell lineages in the bone marrow Human Phenotype Ontology C4023024 HP:0012145 16 Feb 2016 Finding Abnormality of muscle fibers Human Phenotype Ontology C4021663 HP:0004303 16 Feb 2016 Finding Abnormality of muscle morphology Human Phenotype Ontology C4023181 HP:0011805 16 Feb 2016 Finding Abnormality of muscle of facial expression Human Phenotype Ontology C4073201 HP:0430019 16 Feb 2016 Finding Abnormality of muscle physiology Human Phenotype Ontology C4023182 HP:0011804 16 Feb 2016 Finding Abnormality of muscle size Human Phenotype Ontology C4022563 HP:0030236 16 Feb 2016 Finding Abnormality of musculature of pharynx Human Phenotype Ontology C4073197 HP:0430015 16 Feb 2016 Finding Abnormality of musculature of soft palate Human Phenotype Ontology C4073196 HP:0430014 16 Feb 2016 Finding Abnormality of myeloid leukocytes Human Phenotype Ontology C4023618 HP:0010974 16 Feb 2016 Finding Abnormality of mylohyoid muscle Human Phenotype Ontology C4073217 HP:3000008 16 Feb 2016 Finding Abnormality of nail color Human Phenotype Ontology C4020960 HP:0100643 16 Feb 2016 Finding Abnormality of nasal hair Human Phenotype Ontology C4021858 HP:0040057 16 Feb 2016 Finding Abnormality of nasal musculature Human Phenotype Ontology C4073200 HP:0430018 16 Feb 2016 Finding Abnormality of nasalis muscle Human Phenotype Ontology C4073218 HP:3000009 16 Feb 2016 Finding Abnormality of nasopharyngeal adenoids Human Phenotype Ontology C4073241 HP:3000033 16 Feb 2016 Finding Abnormality of natural killer cell number Human Phenotype Ontology C4021036 HP:0040089 16 Feb 2016 Finding Abnormality of neck blood vessel Human Phenotype Ontology C4073245 HP:3000037 16 Feb 2016 Finding Abnormality of nervous system morphology Human Phenotype Ontology C4022810 HP:0012639 16 Feb 2016 Finding Abnormality of nervous system physiology Human Phenotype Ontology C4022811 HP:0012638 16 Feb 2016 Finding Abnormality of neuronal migration Human Phenotype Ontology C1837249 HP:0002269 16 Feb 2016 Finding Abnormality of neutrophil morphology Human Phenotype Ontology C4023091 HP:0011992 16 Feb 2016 Finding Abnormality of neutrophil physiology Human Phenotype Ontology C4023093 HP:0011990 16 Feb 2016 Finding Abnormality of neutrophils Human Phenotype Ontology C0427515 HP:0001874 16 Feb 2016 Finding Abnormality of nitrogen compound homeostasis Human Phenotype Ontology C4025336 HP:0004364 16 Feb 2016 Finding Abnormality of nucleobase metabolism Human Phenotype Ontology C4023643 HP:0010932 16 Feb 2016 Finding Abnormality of occipitofrontalis muscle Human Phenotype Ontology C4073138 HP:0040172 16 Feb 2016 Finding Abnormality of ocular abduction Human Phenotype Ontology C4023405 HP:0011347 16 Feb 2016 Finding Abnormality of ocular smooth pursuit Human Phenotype Ontology C1836393 HP:0000617 16 Feb 2016 Finding Abnormality of odontoid tissue Human Phenotype Ontology C4073258 HP:3000050 16 Feb 2016 Finding Abnormality of olfactory lobe morphology Human Phenotype Ontology C4476573 HP:0025057 02 Apr 2017 Finding Abnormality of ophthalmic artery Human Phenotype Ontology C4073185 HP:0410006 16 Feb 2016 Finding Abnormality of optic chiasm morphology Human Phenotype Ontology C4476628 HP:0025163 02 Apr 2017 Finding Abnormality of oral frenula Human Phenotype Ontology C4025881 HP:0000190 16 Feb 2016 Finding Abnormality of oral mucosa Human Phenotype Ontology C4023170 HP:0011830 16 Feb 2016 Finding Abnormality of orbicularis oris muscle Human Phenotype Ontology C4073219 HP:3000010 16 Feb 2016 Finding Abnormality of ornithine metabolism Human Phenotype Ontology C4023070 HP:0012025 16 Feb 2016 Finding Abnormality of orotic acid metabolism Human Phenotype Ontology HP:0010928 16 Feb 2016 Finding Abnormality of pain sensation Human Phenotype Ontology C4023691 HP:0010832 16 Feb 2016 Finding Abnormality of palatoglossus muscle Human Phenotype Ontology C4073220 HP:3000011 16 Feb 2016 Finding Abnormality of palatopharyngeus muscle Human Phenotype Ontology C4073221 HP:3000012 16 Feb 2016 Finding Abnormality of pancreas morphology Human Phenotype Ontology C4023049 HP:0012090 16 Feb 2016 Finding Abnormality of pancreas physiology Human Phenotype Ontology C4023048 HP:0012091 16 Feb 2016 Finding Abnormality of parotid gland Human Phenotype Ontology C4025880 HP:0000197 16 Feb 2016 Finding Abnormality of pattern onset/offset visual evoked potentials Human Phenotype Ontology C4072947 HP:0030456 16 Feb 2016 Finding Abnormality of pattern reversal visual evoked potentials Human Phenotype Ontology C4022165 HP:0100289 16 Feb 2016 Finding Abnormality of pattern visual evoked potentials Human Phenotype Ontology C4072946 HP:0030455 16 Feb 2016 Finding Abnormality of pelvic girdle bone morphology Human Phenotype Ontology C4020847 HP:0002644 16 Feb 2016 Finding Abnormality of periauricular region Human Phenotype Ontology C4025856 HP:0000383 16 Feb 2016 Finding Abnormality of peripheral nerve conduction Human Phenotype Ontology C4020690 HP:0003134 16 Feb 2016 Finding Abnormality of peripheral nerves Human Phenotype Ontology C4022400 HP:0045010 16 Feb 2016 Finding Abnormality of peripheral nervous system electrophysiology Human Phenotype Ontology C0853150 HP:0030177 16 Feb 2016 Finding Abnormality of peripheral somatosensory evoked potentials Human Phenotype Ontology C4022164 HP:0100290 16 Feb 2016 Finding Abnormality of permanent molar morphology Human Phenotype Ontology C4023552 HP:0011071 16 Feb 2016 Finding Abnormality of phagocytes Human Phenotype Ontology C5139054 HP:0010977 16 Feb 2016 Finding Abnormality of phalangeal joints of the hand Human Phenotype Ontology C4021604 HP:0006261 16 Feb 2016 Finding Abnormality of phalanx of finger Human Phenotype Ontology C4021614 HP:0005918 16 Feb 2016 Finding Abnormality of phalanx of the 2nd toe Human Phenotype Ontology C4023903 HP:0010324 16 Feb 2016 Finding Abnormality of phenylalanine metabolism Human Phenotype Ontology C4023672 HP:0010893 16 Feb 2016 Finding Abnormality of phosphate homeostasis Human Phenotype Ontology C4022032 HP:0100529 16 Feb 2016 Finding Abnormality of phytanic acid metabolism Human Phenotype Ontology C5139052 HP:0010965 16 Feb 2016 Finding Abnormality of pineal morphology Human Phenotype Ontology C4022782 HP:0012681 16 Feb 2016 Finding Abnormality of pineal physiology Human Phenotype Ontology C4022778 HP:0012688 16 Feb 2016 Finding Abnormality of placental membranes Human Phenotype Ontology C4023369 HP:0011409 16 Feb 2016 Finding Abnormality of platysma Human Phenotype Ontology C4073222 HP:3000013 16 Feb 2016 Finding Abnormality of polysaccharide metabolism Human Phenotype Ontology C5139057 HP:0011012 16 Feb 2016 Finding Abnormality of potassium homeostasis Human Phenotype Ontology C4023575 HP:0011042 16 Feb 2016 Finding Abnormality of premolar Human Phenotype Ontology C4023548 HP:0011076 16 Feb 2016 Finding Abnormality of premolar morphology Human Phenotype Ontology C4023545 HP:0011080 16 Feb 2016 Finding Abnormality of prenatal development or birth Human Phenotype Ontology C4025797 HP:0001197 16 Feb 2016 Finding Abnormality of primary molar morphology Human Phenotype Ontology C4025059 HP:0006344 16 Feb 2016 Finding Abnormality of primary teeth Human Phenotype Ontology C4021596 HP:0006481 16 Feb 2016 Finding Abnormality of procerus muscle Human Phenotype Ontology C4073223 HP:3000014 16 Feb 2016 Finding Abnormality of proline metabolism Human Phenotype Ontology C5139047 HP:0010907 16 Feb 2016 Finding Abnormality of prostaglandin metabolism Human Phenotype Ontology C5139060 HP:0011023 16 Feb 2016 Finding Abnormality of proteoglycan metabolism Human Phenotype Ontology HP:0004355 16 Feb 2016 Finding Abnormality of prothrombin Human Phenotype Ontology C4023005 HP:0012200 16 Feb 2016 Finding Abnormality of pulmonary circulation Human Phenotype Ontology C4280730 HP:0030875 02 Apr 2017 Finding Abnormality of pulmonary situs Human Phenotype Ontology C4023271 HP:0011615 16 Feb 2016 Finding Abnormality of purine metabolism Human Phenotype Ontology C5139037 HP:0004352 16 Feb 2016 Finding Abnormality of pyrimidine metabolism Human Phenotype Ontology C5139038 HP:0004353 16 Feb 2016 Finding Abnormality of pyruvate family amino acid metabolism Human Phenotype Ontology C4023655 HP:0010915 16 Feb 2016 Finding Abnormality of radial diaphysis Human Phenotype Ontology C4025434 HP:0004027 16 Feb 2016 Finding Abnormality of radial epiphyses Human Phenotype Ontology C4021694 HP:0003999 16 Feb 2016 Finding Abnormality of radial metaphyses Human Phenotype Ontology C4025444 HP:0004015 16 Feb 2016 Finding Abnormality of radial ray Human Phenotype Ontology C4228778 HP:0410049 04 Apr 2018 Finding Abnormality of redox activity Human Phenotype Ontology C4476795 HP:0025463 04 Apr 2018 Finding Abnormality of refraction Human Phenotype Ontology C4025843 HP:0000539 16 Feb 2016 Finding Abnormality of renal calyx morphology Human Phenotype Ontology C4023522 HP:0011130 16 Feb 2016 Finding Abnormality of renal cortex morphology Human Phenotype Ontology C4023580 HP:0011035 04 Apr 2018 Finding Abnormality of renal excretion Human Phenotype Ontology C4023579 HP:0011036 16 Feb 2016 Finding Abnormality of renal glomerulus morphology Human Phenotype Ontology C4025889 HP:0000095 04 Apr 2018 Finding Abnormality of renal resorption Human Phenotype Ontology C4023578 HP:0011038 16 Feb 2016 Finding Abnormality of renin-angiotensin system Human Phenotype Ontology C4021793 HP:0000847 16 Feb 2016 Finding Abnormality of reproductive system physiology Human Phenotype Ontology C4021820 HP:0000080 16 Feb 2016 Finding Abnormality of reticulocytes Human Phenotype Ontology C4025358 HP:0004312 16 Feb 2016 Finding Abnormality of retinal pigmentation Human Phenotype Ontology C1862475 HP:0007703 16 Feb 2016 Finding Abnormality of risorius muscle Human Phenotype Ontology C4073224 HP:3000015 16 Feb 2016 Finding Abnormality of saccadic eye movements Human Phenotype Ontology C0234649 HP:0000570 16 Feb 2016 Finding Abnormality of salivation Human Phenotype Ontology C4021978 HP:0100755 16 Feb 2016 Finding Abnormality of sarcosine metabolism Human Phenotype Ontology C5139649 HP:0010898 16 Feb 2016 Finding Abnormality of secondary sexual hair Human Phenotype Ontology C4024171 HP:0009888 16 Feb 2016 Finding Abnormality of serine family amino acid metabolism Human Phenotype Ontology C4023671 HP:0010894 16 Feb 2016 Finding Abnormality of serine metabolism Human Phenotype Ontology C5139064 HP:0012278 16 Feb 2016 Finding Abnormality of serum amino acid levels Human Phenotype Ontology C4025653 HP:0003112 16 Feb 2016 Finding Abnormality of serum cytokine level Human Phenotype Ontology C4023535 HP:0011112 16 Feb 2016 Finding Abnormality of Sharpey fibers Human Phenotype Ontology C4021997 HP:0100685 16 Feb 2016 Finding Abnormality of skeletal maturation Human Phenotype Ontology C4025818 HP:0000927 16 Feb 2016 Finding Abnormality of skeletal morphology Human Phenotype Ontology C4023165 HP:0011842 16 Feb 2016 Finding Abnormality of skeletal muscle fiber size Human Phenotype Ontology C4023051 HP:0012084 16 Feb 2016 Finding Abnormality of skeletal muscles Human Phenotype Ontology HP:0040290 04 Apr 2018 Finding Abnormality of skeletal physiology Human Phenotype Ontology C4023164 HP:0011843 16 Feb 2016 Finding Abnormality of skin adnexa morphology Human Phenotype Ontology C4023518 HP:0011138 02 Apr 2017 Finding Abnormality of skin adnexa physiology Human Phenotype Ontology C4476685 HP:0025276 02 Apr 2017 Finding Abnormality of skin morphology Human Phenotype Ontology C4023528 HP:0011121 16 Feb 2016 Finding Abnormality of skin physiology Human Phenotype Ontology C4023527 HP:0011122 16 Feb 2016 Finding Abnormality of skin pigmentation Human Phenotype Ontology C1260926 HP:0001000 16 Feb 2016 Finding Abnormality of skull ossification Human Phenotype Ontology C4025686 HP:0002703 16 Feb 2016 Finding Abnormality of skull size Human Phenotype Ontology C4025874 HP:0000240 16 Feb 2016 Finding Abnormality of small intestinal villus morphology Human Phenotype Ontology C4023341 HP:0011472 16 Feb 2016 Finding Abnormality of sodium homeostasis Human Phenotype Ontology C4023644 HP:0010931 16 Feb 2016 Finding Abnormality of somatic nerve plexus Human Phenotype Ontology C4073189 HP:0410010 16 Feb 2016 Finding Abnormality of somatosensory evoked potentials Human Phenotype Ontology C4021577 HP:0007377 16 Feb 2016 Finding Abnormality of spinal facet joint Human Phenotype Ontology C4280735 HP:0030870 02 Apr 2017 Finding Abnormality of stem of antihelix Human Phenotype Ontology C4023445 HP:0011244 16 Feb 2016 Finding Abnormality of styloglossus muscle Human Phenotype Ontology C4073225 HP:3000016 16 Feb 2016 Finding Abnormality of subcutaneous fat tissue Human Phenotype Ontology C4025813 HP:0001001 16 Feb 2016 Finding Abnormality of sulfur amino acid metabolism Human Phenotype Ontology C4021660 HP:0004339 16 Feb 2016 Finding Abnormality of superior crus of antihelix Human Phenotype Ontology C4021190 HP:0011245 16 Feb 2016 Finding Abnormality of superoxide metabolism Human Phenotype Ontology C4025340 HP:0004358 16 Feb 2016 Finding Abnormality of synovial bursa morphology Human Phenotype Ontology C4476679 HP:0025231 02 Apr 2017 Finding Abnormality of T cell count Human Phenotype Ontology C4021113 HP:0011839 02 Apr 2017 Finding Abnormality of T cell physiology Human Phenotype Ontology C4023166 HP:0011840 16 Feb 2016 Finding Abnormality of taste sensation Human Phenotype Ontology C4025879 HP:0000223 16 Feb 2016 Finding Abnormality of temperature regulation Human Phenotype Ontology C1832160 HP:0004370 16 Feb 2016 Finding Abnormality of temporalis muscle Human Phenotype Ontology C4073226 HP:3000017 16 Feb 2016 Finding Abnormality of tensor veli palatini muscle Human Phenotype Ontology C4073198 HP:0430016 16 Feb 2016 Finding Abnormality of thalamus morphology Human Phenotype Ontology C4021243 HP:0010663 16 Feb 2016 Finding Abnormality of the 1st metacarpal Human Phenotype Ontology C4024114 HP:0010009 16 Feb 2016 Finding Abnormality of the 2nd finger Human Phenotype Ontology C4021683 HP:0004100 16 Feb 2016 Finding Abnormality of the 2nd metacarpal Human Phenotype Ontology C4024113 HP:0010010 16 Feb 2016 Finding Abnormality of the 2nd toe Human Phenotype Ontology C4023908 HP:0010319 16 Feb 2016 Finding Abnormality of the 3rd finger Human Phenotype Ontology C4021682 HP:0004150 16 Feb 2016 Finding Abnormality of the 3rd metacarpal Human Phenotype Ontology C4024112 HP:0010011 16 Feb 2016 Finding Abnormality of the 3rd toe Human Phenotype Ontology C4023907 HP:0010320 16 Feb 2016 Finding Abnormality of the 4th finger Human Phenotype Ontology C4021680 HP:0004188 16 Feb 2016 Finding Abnormality of the 4th metacarpal Human Phenotype Ontology C4024111 HP:0010012 16 Feb 2016 Finding Abnormality of the 4th toe Human Phenotype Ontology C4023906 HP:0010321 16 Feb 2016 Finding Abnormality of the 5th finger Human Phenotype Ontology C4021678 HP:0004207 16 Feb 2016 Finding Abnormality of the 5th metacarpal Human Phenotype Ontology C4024110 HP:0010013 16 Feb 2016 Finding Abnormality of the 5th toe Human Phenotype Ontology C4023905 HP:0010322 16 Feb 2016 Finding Abnormality of the abdominal musculature Human Phenotype Ontology C4023608 HP:0010991 16 Feb 2016 Finding Abnormality of the abdominal organs Human Phenotype Ontology C4021764 HP:0002012 16 Feb 2016 Finding Abnormality of the abdominal wall Human Phenotype Ontology C4021664 HP:0004298 16 Feb 2016 Finding Abnormality of the acetabulum Human Phenotype Ontology C4021739 HP:0003170 16 Feb 2016 Finding Abnormality of the Achilles tendon Human Phenotype Ontology C4021642 HP:0005109 16 Feb 2016 Finding Abnormality of the acoustic reflex Human Phenotype Ontology C4022426 HP:0040121 16 Feb 2016 Finding Abnormality of the adrenal glands Human Phenotype Ontology C4021794 HP:0000834 16 Feb 2016 Finding Abnormality of the alternative complement pathway Human Phenotype Ontology C4025191 HP:0005482 04 Apr 2018 Finding Abnormality of the alveolar ridges Human Phenotype Ontology C0341007 HP:0006477 16 Feb 2016 Finding Abnormality of the amniotic fluid Human Phenotype Ontology C0266781 HP:0001560 16 Feb 2016 Finding Abnormality of the ankles Human Phenotype Ontology C4025660 HP:0003028 16 Feb 2016 Finding Abnormality of the anterior commissure Human Phenotype Ontology C4022525 HP:0030301 16 Feb 2016 Finding Abnormality of the anterior fontanelle Human Phenotype Ontology C4025875 HP:0000236 16 Feb 2016 Finding Abnormality of the anterior pituitary Human Phenotype Ontology C4023206 HP:0011747 16 Feb 2016 Finding Abnormality of the anterior segment of the globe Human Phenotype Ontology C4025355 HP:0004328 02 Apr 2017 Finding Abnormality of the antihelix Human Phenotype Ontology C4021395 HP:0009738 16 Feb 2016 Finding Abnormality of the antitragus Human Phenotype Ontology C4024167 HP:0009896 16 Feb 2016 Finding Abnormality of the anus Human Phenotype Ontology C4025329 HP:0004378 16 Feb 2016 Finding Abnormality of the aortic valve Human Phenotype Ontology C3164445 HP:0001646 16 Feb 2016 Finding Abnormality of the arachnoid mater Human Phenotype Ontology C4020955 HP:0100700 16 Feb 2016 Finding Abnormality of the aryepiglottic fold Human Phenotype Ontology C1849357 HP:0008744 16 Feb 2016 Finding Abnormality of the astrocytes Human Phenotype Ontology C4021991 HP:0100707 16 Feb 2016 Finding Abnormality of the atrial septum Human Phenotype Ontology C0344722 HP:0011994 16 Feb 2016 Finding Abnormality of the atrioventricular valves Human Phenotype Ontology C4024995 HP:0006705 16 Feb 2016 Finding Abnormality of the auditory canal Human Phenotype Ontology C4021807 HP:0000372 16 Feb 2016 Finding Abnormality of the autonomic nervous system Human Phenotype Ontology C4025714 HP:0002270 16 Feb 2016 Finding Abnormality of the axillary hair Human Phenotype Ontology C4022287 HP:0100134 16 Feb 2016 Finding Abnormality of the basal ganglia Human Phenotype Ontology C4520981 HP:0002134 16 Feb 2016 Finding Abnormality of the bed nucleus of stria terminalis Human Phenotype Ontology C4280761 HP:0030798 02 Apr 2017 Finding Abnormality of the biliary system Human Phenotype Ontology C0940767 HP:0004297 16 Feb 2016 Finding Abnormality of the bladder Human Phenotype Ontology C0149632 HP:0000014 16 Feb 2016 Finding Abnormality of the brachial nerve plexus Human Phenotype Ontology C4073176 HP:0045052 16 Feb 2016 Finding Abnormality of the brainstem white matter Human Phenotype Ontology C4022876 HP:0012501 16 Feb 2016 Finding Abnormality of the breast Human Phenotype Ontology C4025829 HP:0000769 16 Feb 2016 Finding Abnormality of the bronchi Human Phenotype Ontology C0006261 HP:0002109 16 Feb 2016 Finding Abnormality of the calcaneus Human Phenotype Ontology C4024689 HP:0008364 16 Feb 2016 Finding Abnormality of the calf Human Phenotype Ontology C4021832 HP:0002981 16 Feb 2016 Finding Abnormality of the calf musculature Human Phenotype Ontology C4021779 HP:0001430 16 Feb 2016 Finding Abnormality of the calvaria Human Phenotype Ontology C4025691 HP:0002683 16 Feb 2016 Finding Abnormality of the capitate bone Human Phenotype Ontology C4025384 HP:0004262 16 Feb 2016 Finding Abnormality of the cardiac septa Human Phenotype Ontology CN001520 HP:0001671 16 Feb 2016 Finding Abnormality of the cardiovascular system Human Phenotype Ontology C0243050 HP:0001626 16 Feb 2016 Finding Abnormality of the carpal bones Human Phenotype Ontology C1840535 HP:0001191 16 Feb 2016 Finding Abnormality of the caudate nucleus Human Phenotype Ontology C4025711 HP:0002339 16 Feb 2016 Finding Abnormality of the cell cycle Human Phenotype Ontology C4023594 HP:0011018 16 Feb 2016 Finding Abnormality of the cementum Human Phenotype Ontology C4021987 HP:0100717 16 Feb 2016 Finding Abnormality of the cerebellar peduncle Human Phenotype Ontology C4023121 HP:0011931 16 Feb 2016 Finding Abnormality of the cerebellar vermis Human Phenotype Ontology C4025712 HP:0002334 16 Feb 2016 Finding Abnormality of the cerebellum Human Phenotype Ontology C1866129 HP:0001317 16 Feb 2016 Finding Abnormality of the cerebral cortex Human Phenotype Ontology C4025701 HP:0002538 16 Feb 2016 Finding Abnormality of the cerebral subcortex Human Phenotype Ontology C4021207 HP:0010993 16 Feb 2016 Finding Abnormality of the cerebral vasculature Human Phenotype Ontology C4022001 HP:0100659 16 Feb 2016 Finding Abnormality of the cerebral ventricles Human Phenotype Ontology C4025724 HP:0002118 16 Feb 2016 Finding Abnormality of the cerebral white matter Human Phenotype Ontology C0948163 HP:0002500 16 Feb 2016 Finding Abnormality of the cerebrospinal fluid Human Phenotype Ontology C0151583 HP:0002921 16 Feb 2016 Finding Abnormality of the cerebrum Human Phenotype Ontology C4021762 HP:0002060 16 Feb 2016 Finding Abnormality of the cervical spine Human Phenotype Ontology C1852464 HP:0003319 16 Feb 2016 Finding Abnormality of the cheek Human Phenotype Ontology C4025324 HP:0004426 16 Feb 2016 Finding Abnormality of the chin Human Phenotype Ontology C4025864 HP:0000306 16 Feb 2016 Finding Abnormality of the choanae Human Phenotype Ontology C4025855 HP:0000415 16 Feb 2016 Finding Abnormality of the choroid Human Phenotype Ontology C4025836 HP:0000610 16 Feb 2016 Finding Abnormality of the choroid plexus Human Phenotype Ontology C4024893 HP:0007376 16 Feb 2016 Finding Abnormality of the ciliary body Human Phenotype Ontology C4022726 HP:0012776 16 Feb 2016 Finding Abnormality of the clavicle Human Phenotype Ontology C4021792 HP:0000889 16 Feb 2016 Finding Abnormality of the clitoris Human Phenotype Ontology C4025893 HP:0000056 16 Feb 2016 Finding Abnormality of the clivus Human Phenotype Ontology C4023791 HP:0010558 16 Feb 2016 Finding Abnormality of the coagulation cascade Human Phenotype Ontology C0005779 HP:0003256 16 Feb 2016 Finding Abnormality of the coccyx Human Phenotype Ontology C4024658 HP:0008519 16 Feb 2016 Finding Abnormality of the cochlear nerve Human Phenotype Ontology C4023377 HP:0011396 16 Feb 2016 Finding Abnormality of the columella Human Phenotype Ontology C4024158 HP:0009929 16 Feb 2016 Finding Abnormality of the common carotid artery Human Phenotype Ontology C4073203 HP:0430021 16 Feb 2016 Finding Abnormality of the common coagulation pathway Human Phenotype Ontology C4023609 HP:0010990 16 Feb 2016 Finding Abnormality of the common tendinous ring Human Phenotype Ontology C4073122 HP:0030671 02 Apr 2017 Finding Abnormality of the conjunctiva Human Phenotype Ontology C4025847 HP:0000502 16 Feb 2016 Finding Abnormality of the cornea Human Phenotype Ontology C1855670 HP:0000481 16 Feb 2016 Finding Abnormality of the corneal limbus Human Phenotype Ontology C4476718 HP:0025348 02 Apr 2017 Finding Abnormality of the corpus callosum Human Phenotype Ontology C1842581 HP:0001273 16 Feb 2016 Finding Abnormality of the corticospinal tract Human Phenotype Ontology C4025704 HP:0002492 16 Feb 2016 Finding Abnormality of the costochondral junction Human Phenotype Ontology C4021791 HP:0000919 16 Feb 2016 Finding Abnormality of the cranial nerves Human Phenotype Ontology C1854510 HP:0001291 16 Feb 2016 Finding Abnormality of the crus of the helix Human Phenotype Ontology C4021380 HP:0009895 16 Feb 2016 Finding Abnormality of the curvature of the cornea Human Phenotype Ontology C4021995 HP:0100691 16 Feb 2016 Finding Abnormality of the curvature of the vertebral column Human Phenotype Ontology C4023747 HP:0010674 16 Feb 2016 Finding Abnormality of the deltoid tuberosities Human Phenotype Ontology C4025527 HP:0003889 16 Feb 2016 Finding Abnormality of the dental pulp Human Phenotype Ontology C4025042 HP:0006479 16 Feb 2016 Finding Abnormality of the dental root Human Phenotype Ontology C4025041 HP:0006486 16 Feb 2016 Finding Abnormality of the dentate nucleus Human Phenotype Ontology C4022148 HP:0100321 16 Feb 2016 Finding Abnormality of the dentition Human Phenotype Ontology C0262444 HP:0000164 04 Apr 2018 Finding Abnormality of the diaphragm Human Phenotype Ontology C1848873 HP:0000775 16 Feb 2016 Finding Abnormality of the diencephalon Human Phenotype Ontology C4023752 HP:0010662 16 Feb 2016 Finding Abnormality of the digestive system Human Phenotype Ontology C0266015 HP:0025031 02 Apr 2017 Finding Abnormality of the distal femoral epiphysis Human Phenotype Ontology C4023783 HP:0010590 16 Feb 2016 Finding Abnormality of the distal fibular epiphysis Human Phenotype Ontology C4023778 HP:0010595 16 Feb 2016 Finding Abnormality of the distal humeral epiphysis Human Phenotype Ontology C4023774 HP:0010599 16 Feb 2016 Finding Abnormality of the distal phalanges of the toes Human Phenotype Ontology C4023982 HP:0010182 16 Feb 2016 Finding Abnormality of the distal phalanx of finger Human Phenotype Ontology C4021385 HP:0009832 16 Feb 2016 Finding Abnormality of the distal phalanx of the 2nd finger Human Phenotype Ontology C4021449 HP:0009542 16 Feb 2016 Finding Abnormality of the distal phalanx of the 2nd toe Human Phenotype Ontology C4023885 HP:0010356 16 Feb 2016 Finding Abnormality of the distal phalanx of the 3rd finger Human Phenotype Ontology C4021486 HP:0009357 16 Feb 2016 Finding Abnormality of the distal phalanx of the 3rd toe Human Phenotype Ontology C4023878 HP:0010368 16 Feb 2016 Finding Abnormality of the distal phalanx of the 4th finger Human Phenotype Ontology C4024471 HP:0009282 16 Feb 2016 Finding Abnormality of the distal phalanx of the 4th toe Human Phenotype Ontology C4023870 HP:0010380 16 Feb 2016 Finding Abnormality of the distal phalanx of the 5th finger Human Phenotype Ontology C4021673 HP:0004225 16 Feb 2016 Finding Abnormality of the distal phalanx of the 5th toe Human Phenotype Ontology C4023862 HP:0010392 16 Feb 2016 Finding Abnormality of the distal phalanx of the hallux Human Phenotype Ontology C4024083 HP:0010053 16 Feb 2016 Finding Abnormality of the distal phalanx of the thumb Human Phenotype Ontology C4021422 HP:0009617 16 Feb 2016 Finding Abnormality of the distal radial epiphysis Human Phenotype Ontology C4023776 HP:0010597 16 Feb 2016 Finding Abnormality of the distal tibial epiphysis Human Phenotype Ontology C4023781 HP:0010592 16 Feb 2016 Finding Abnormality of the distal ulnar epiphysis Human Phenotype Ontology C4023773 HP:0010600 16 Feb 2016 Finding Abnormality of the dorsal column of the spinal cord Human Phenotype Ontology C4023376 HP:0011397 16 Feb 2016 Finding Abnormality of the ductus choledochus Human Phenotype Ontology C4020944 HP:0100889 16 Feb 2016 Finding Abnormality of the duodenum Human Phenotype Ontology C4025716 HP:0002246 16 Feb 2016 Finding Abnormality of the dura mater Human Phenotype Ontology C4023757 HP:0010652 16 Feb 2016 Finding Abnormality of the elbow Human Phenotype Ontology C4021386 HP:0009811 16 Feb 2016 Finding Abnormality of the elbow metaphyses Human Phenotype Ontology C4025485 HP:0003949 16 Feb 2016 Finding Abnormality of the eleventh cranial nerve Human Phenotype Ontology C4021225 HP:0010825 16 Feb 2016 Finding Abnormality of the endocardium Human Phenotype Ontology C4021662 HP:0004306 16 Feb 2016 Finding Abnormality of the endocrine system Human Phenotype Ontology C4025823 HP:0000818 16 Feb 2016 Finding Abnormality of the endometrium Human Phenotype Ontology C4022620 HP:0030126 16 Feb 2016 Finding Abnormality of the epididymis Human Phenotype Ontology C4024222 HP:0009714 16 Feb 2016 Finding Abnormality of the epiglottis Human Phenotype Ontology C4025190 HP:0005483 16 Feb 2016 Finding Abnormality of the epiphyses of the 2nd finger Human Phenotype Ontology C4025073 HP:0006263 16 Feb 2016 Finding Abnormality of the epiphyses of the 2nd toe Human Phenotype Ontology C4023904 HP:0010323 16 Feb 2016 Finding Abnormality of the epiphyses of the 3rd finger Human Phenotype Ontology C4024445 HP:0009320 16 Feb 2016 Finding Abnormality of the epiphyses of the 3rd toe Human Phenotype Ontology C4023900 HP:0010329 16 Feb 2016 Finding Abnormality of the epiphyses of the 4th finger Human Phenotype Ontology C4024556 HP:0009174 16 Feb 2016 Finding Abnormality of the epiphyses of the 4th toe Human Phenotype Ontology C4023897 HP:0010335 16 Feb 2016 Finding Abnormality of the epiphyses of the 5th finger Human Phenotype Ontology C4024569 HP:0009152 16 Feb 2016 Finding Abnormality of the epiphyses of the 5th toe Human Phenotype Ontology C4023893 HP:0010341 16 Feb 2016 Finding Abnormality of the epiphyses of the distal phalanx of finger Human Phenotype Ontology C4023956 HP:0010243 16 Feb 2016 Finding Abnormality of the epiphyses of the elbow Human Phenotype Ontology C4025488 HP:0003946 16 Feb 2016 Finding Abnormality of the epiphyses of the feet Human Phenotype Ontology C4023769 HP:0010631 16 Feb 2016 Finding Abnormality of the epiphyses of the hallux Human Phenotype Ontology C4024081 HP:0010056 16 Feb 2016 Finding Abnormality of the epiphyses of the hand Human Phenotype Ontology C4025107 HP:0005924 16 Feb 2016 Finding Abnormality of the epiphyses of the middle phalanges of the hand Human Phenotype Ontology C4023955 HP:0010244 16 Feb 2016 Finding Abnormality of the epiphyses of the phalanges of the hand Human Phenotype Ontology C4021613 HP:0005920 16 Feb 2016 Finding Abnormality of the epiphyses of the proximal phalanges of the hand Human Phenotype Ontology C4023954 HP:0010245 16 Feb 2016 Finding Abnormality of the epiphyses of the toes Human Phenotype Ontology C4023999 HP:0010160 16 Feb 2016 Finding Abnormality of the epiphysis of the 1st metacarpal Human Phenotype Ontology C4024109 HP:0010014 16 Feb 2016 Finding Abnormality of the epiphysis of the 1st metatarsal Human Phenotype Ontology C4024034 HP:0010125 16 Feb 2016 Finding Abnormality of the epiphysis of the 2nd metacarpal Human Phenotype Ontology C4023964 HP:0010220 16 Feb 2016 Finding Abnormality of the epiphysis of the 3rd metacarpal Human Phenotype Ontology C4023962 HP:0010222 16 Feb 2016 Finding Abnormality of the epiphysis of the 4th metacarpal Human Phenotype Ontology C4023960 HP:0010224 16 Feb 2016 Finding Abnormality of the epiphysis of the 5th metacarpal Human Phenotype Ontology C4023958 HP:0010226 16 Feb 2016 Finding Abnormality of the epiphysis of the distal phalanx of the 2nd finger Human Phenotype Ontology C4021464 HP:0009499 16 Feb 2016 Finding Abnormality of the epiphysis of the distal phalanx of the 2nd toe Human Phenotype Ontology C4022333 HP:0100088 16 Feb 2016 Finding Abnormality of the epiphysis of the distal phalanx of the 3rd finger Human Phenotype Ontology C4024435 HP:0009332 16 Feb 2016 Finding Abnormality of the epiphysis of the distal phalanx of the 3rd toe Human Phenotype Ontology C4022330 HP:0100091 16 Feb 2016 Finding Abnormality of the epiphysis of the distal phalanx of the 4th finger Human Phenotype Ontology C4024498 HP:0009249 16 Feb 2016 Finding Abnormality of the epiphysis of the distal phalanx of the 4th toe Human Phenotype Ontology C4022327 HP:0100094 16 Feb 2016 Finding Abnormality of the epiphysis of the distal phalanx of the 5th finger Human Phenotype Ontology C4021512 HP:0009198 16 Feb 2016 Finding Abnormality of the epiphysis of the distal phalanx of the 5th toe Human Phenotype Ontology C4022324 HP:0100097 16 Feb 2016 Finding Abnormality of the epiphysis of the distal phalanx of the hallux Human Phenotype Ontology C4024035 HP:0010124 16 Feb 2016 Finding Abnormality of the epiphysis of the distal phalanx of the thumb Human Phenotype Ontology C4021410 HP:0009662 16 Feb 2016 Finding Abnormality of the epiphysis of the femoral head Human Phenotype Ontology C4021252 HP:0010574 16 Feb 2016 Finding Abnormality of the epiphysis of the middle phalanx of the 2nd finger Human Phenotype Ontology C4021463 HP:0009500 16 Feb 2016 Finding Abnormality of the epiphysis of the middle phalanx of the 2nd toe Human Phenotype Ontology C4022332 HP:0100089 16 Feb 2016 Finding Abnormality of the epiphysis of the middle phalanx of the 3rd finger Human Phenotype Ontology C4024433 HP:0009334 16 Feb 2016 Finding Abnormality of the epiphysis of the middle phalanx of the 3rd toe Human Phenotype Ontology C4022329 HP:0100092 16 Feb 2016 Finding Abnormality of the epiphysis of the middle phalanx of the 4th finger Human Phenotype Ontology C4024500 HP:0009247 16 Feb 2016 Finding Abnormality of the epiphysis of the middle phalanx of the 4th toe Human Phenotype Ontology C4022326 HP:0100095 16 Feb 2016 Finding Abnormality of the epiphysis of the middle phalanx of the 5th finger Human Phenotype Ontology C4025405 HP:0004224 16 Feb 2016 Finding Abnormality of the epiphysis of the middle phalanx of the 5th toe Human Phenotype Ontology C4022323 HP:0100098 16 Feb 2016 Finding Abnormality of the epiphysis of the proximal phalanx of the 2nd finger Human Phenotype Ontology C4021462 HP:0009501 16 Feb 2016 Finding Abnormality of the epiphysis of the proximal phalanx of the 2nd toe Human Phenotype Ontology C4022331 HP:0100090 16 Feb 2016 Finding Abnormality of the epiphysis of the proximal phalanx of the 3rd finger Human Phenotype Ontology C4024434 HP:0009333 16 Feb 2016 Finding Abnormality of the epiphysis of the proximal phalanx of the 3rd toe Human Phenotype Ontology C4022328 HP:0100093 16 Feb 2016 Finding Abnormality of the epiphysis of the proximal phalanx of the 4th finger Human Phenotype Ontology C4024499 HP:0009248 16 Feb 2016 Finding Abnormality of the epiphysis of the proximal phalanx of the 4th toe Human Phenotype Ontology C4022325 HP:0100096 16 Feb 2016 Finding Abnormality of the epiphysis of the proximal phalanx of the 5th finger Human Phenotype Ontology C4024568 HP:0009153 16 Feb 2016 Finding Abnormality of the epiphysis of the proximal phalanx of the 5th toe Human Phenotype Ontology C4022322 HP:0100099 16 Feb 2016 Finding Abnormality of the epiphysis of the proximal phalanx of the hallux Human Phenotype Ontology C4024033 HP:0010126 16 Feb 2016 Finding Abnormality of the epiphysis of the proximal phalanx of the thumb Human Phenotype Ontology C4024254 HP:0009663 16 Feb 2016 Finding Abnormality of the Eustachian tube Human Phenotype Ontology C0262475 HP:0040115 16 Feb 2016 Finding Abnormality of the external nose Human Phenotype Ontology C4023638 HP:0010938 16 Feb 2016 Finding Abnormality of the extraocular muscles Human Phenotype Ontology C4024751 HP:0008049 16 Feb 2016 Finding Abnormality of the extrinsic pathway Human Phenotype Ontology C4023611 HP:0010988 16 Feb 2016 Finding Abnormality of the eye Human Phenotype Ontology C4316870 HP:0000478 16 Feb 2016 Finding Abnormality of the eyelashes Human Phenotype Ontology C2675111 HP:0000499 16 Feb 2016 Finding Abnormality of the eyelid Human Phenotype Ontology C4021803 HP:0000492 16 Feb 2016 Finding Abnormality of the face Human Phenotype Ontology C4025871 HP:0000271 16 Feb 2016 Finding Abnormality of the fallopian tube Human Phenotype Ontology C0281842 HP:0011027 16 Feb 2016 Finding Abnormality of the falx cerebri Human Phenotype Ontology C4021247 HP:0010653 16 Feb 2016 Finding Abnormality of the fascia Human Phenotype Ontology C4022028 HP:0100536 16 Feb 2016 Finding Abnormality of the female genitalia Human Phenotype Ontology C4023820 HP:0010460 16 Feb 2016 Finding Abnormality of the femoral head Human Phenotype Ontology C4025620 HP:0003368 16 Feb 2016 Finding Abnormality of the femoral metaphysis Human Phenotype Ontology C4025040 HP:0006489 16 Feb 2016 Finding Abnormality of the femoral neck Human Phenotype Ontology C4025621 HP:0003367 16 Feb 2016 Finding Abnormality of the femoral neck or head region Human Phenotype Ontology C4025622 HP:0003366 16 Feb 2016 Finding Abnormality of the fetal cardiovascular system Human Phenotype Ontology C4021210 HP:0010948 16 Feb 2016 Finding Abnormality of the fifth cranial nerve Human Phenotype Ontology C4021226 HP:0010824 16 Feb 2016 Finding Abnormality of the fifth metatarsal bone Human Phenotype Ontology C4024733 HP:0008089 16 Feb 2016 Finding Abnormality of the fingernails Human Phenotype Ontology C4021782 HP:0001231 16 Feb 2016 Finding Abnormality of the fingertips Human Phenotype Ontology C4025796 HP:0001211 16 Feb 2016 Finding Abnormality of the first metatarsal bone Human Phenotype Ontology C4024082 HP:0010054 16 Feb 2016 Finding Abnormality of the fontanelles or cranial sutures Human Phenotype Ontology C4025876 HP:0000235 16 Feb 2016 Finding Abnormality of the foot Human Phenotype Ontology C0016506 HP:0001760 16 Feb 2016 Finding Abnormality of the foot musculature Human Phenotype Ontology C4025785 HP:0001436 16 Feb 2016 Finding Abnormality of the foramen magnum Human Phenotype Ontology C4025687 HP:0002699 16 Feb 2016 Finding Abnormality of the forearm Human Phenotype Ontology C4025666 HP:0002973 16 Feb 2016 Finding Abnormality of the forehead Human Phenotype Ontology C4025867 HP:0000290 16 Feb 2016 Finding Abnormality of the fourth metatarsal bone Human Phenotype Ontology C4022478 HP:0040035 16 Feb 2016 Finding Abnormality of the fourth ventricle Human Phenotype Ontology C4023630 HP:0010950 16 Feb 2016 Finding Abnormality of the frontal bone Human Phenotype Ontology C4021873 HP:0430000 16 Feb 2016 Finding Abnormality of the frontal hairline Human Phenotype Ontology C4025839 HP:0000599 16 Feb 2016 Finding Abnormality of the fundus Human Phenotype Ontology C4025804 HP:0001098 16 Feb 2016 Finding Abnormality of the gallbladder Human Phenotype Ontology C0266249 HP:0005264 16 Feb 2016 Finding Abnormality of the gastric mucosa Human Phenotype Ontology C4025362 HP:0004295 16 Feb 2016 Finding Abnormality of the gastrointestinal tract Human Phenotype Ontology C4023588 HP:0011024 16 Feb 2016 Finding Abnormality of the genital system Human Phenotype Ontology C0744356 HP:0000078 16 Feb 2016 Finding Abnormality of the genitourinary system Human Phenotype Ontology C0042063 HP:0000119 16 Feb 2016 Finding Abnormality of the gingiva Human Phenotype Ontology C4021816 HP:0000168 16 Feb 2016 Finding Abnormality of the glabella Human Phenotype Ontology C4021763 HP:0002056 16 Feb 2016 Finding Abnormality of the glenoid fossa Human Phenotype Ontology C4023131 HP:0011912 16 Feb 2016 Finding Abnormality of the glial cells Human Phenotype Ontology C4021993 HP:0100705 16 Feb 2016 Finding Abnormality of the globus pallidus Human Phenotype Ontology C4025706 HP:0002453 16 Feb 2016 Finding Abnormality of the gluteal musculature Human Phenotype Ontology C4025782 HP:0001443 16 Feb 2016 Finding Abnormality of the greater sacrosciatic notch Human Phenotype Ontology C4023822 HP:0010456 16 Feb 2016 Finding Abnormality of the hair Human Phenotype Ontology C0157733 HP:0001595 16 Feb 2016 Finding Abnormality of the hairline Human Phenotype Ontology C4024297 HP:0009553 16 Feb 2016 Finding Abnormality of the hallux Human Phenotype Ontology C4021773 HP:0001844 16 Feb 2016 Finding Abnormality of the hamate bone Human Phenotype Ontology C4025386 HP:0004259 16 Feb 2016 Finding Abnormality of the hand Human Phenotype Ontology C0018564 HP:0001155 16 Feb 2016 Finding Abnormality of the hard palate Human Phenotype Ontology C4021983 HP:0100737 16 Feb 2016 Finding Abnormality of the head Human Phenotype Ontology C4021812 HP:0000234 16 Feb 2016 Finding Abnormality of the heart valves Human Phenotype Ontology C0241654 HP:0001654 16 Feb 2016 Finding Abnormality of the helix Human Phenotype Ontology C1856660 HP:0011039 16 Feb 2016 Finding Abnormality of the heme biosynthetic pathway Human Phenotype Ontology C4023814 HP:0010472 16 Feb 2016 Finding Abnormality of the hemidiaphragms Human Phenotype Ontology C4022472 HP:0040045 16 Feb 2016 Finding Abnormality of the hepatic vasculature Human Phenotype Ontology C4024994 HP:0006707 16 Feb 2016 Finding Abnormality of the hip bone Human Phenotype Ontology C4021735 HP:0003272 16 Feb 2016 Finding Abnormality of the hip joint Human Phenotype Ontology C4020870 HP:0001384 16 Feb 2016 Finding Abnormality of the hip-girdle musculature Human Phenotype Ontology C4025780 HP:0001445 16 Feb 2016 Finding Abnormality of the humeral diaphysis Human Phenotype Ontology C4025502 HP:0003926 16 Feb 2016 Finding Abnormality of the humeral epiphyseal plate Human Phenotype Ontology C4025518 HP:0003905 16 Feb 2016 Finding Abnormality of the humeral epiphysis Human Phenotype Ontology C4021714 HP:0003891 16 Feb 2016 Finding Abnormality of the humeral heads Human Phenotype Ontology C4025528 HP:0003887 16 Feb 2016 Finding Abnormality of the humeral metaphyses Human Phenotype Ontology C4025517 HP:0003907 16 Feb 2016 Finding Abnormality of the humeroradial joint Human Phenotype Ontology C4021981 HP:0100744 16 Feb 2016 Finding Abnormality of the humeroulnar joint Human Phenotype Ontology C4021980 HP:0100745 16 Feb 2016 Finding Abnormality of the humerus Human Phenotype Ontology C4021742 HP:0003063 16 Feb 2016 Finding Abnormality of the hypothalamus-pituitary axis Human Phenotype Ontology C4025819 HP:0000864 16 Feb 2016 Finding Abnormality of the hypothenar eminence Human Phenotype Ontology C4023807 HP:0010486 16 Feb 2016 Finding Abnormality of the ileum Human Phenotype Ontology C4025762 HP:0001549 16 Feb 2016 Finding Abnormality of the ilium Human Phenotype Ontology C4021746 HP:0002867 16 Feb 2016 Finding Abnormality of the immune system Human Phenotype Ontology C4021753 HP:0002715 16 Feb 2016 Finding Abnormality of the incisor Human Phenotype Ontology C4025833 HP:0000676 16 Feb 2016 Finding Abnormality of the incus Human Phenotype Ontology C4023350 HP:0011453 16 Feb 2016 Finding Abnormality of the inner ear Human Phenotype Ontology C4021809 HP:0000359 16 Feb 2016 Finding Abnormality of the integument Human Phenotype Ontology C4025761 HP:0001574 16 Feb 2016 Finding Abnormality of the internal auditory canal Human Phenotype Ontology C4021155 HP:0011384 16 Feb 2016 Finding Abnormality of the internal capsule Human Phenotype Ontology C4022875 HP:0012502 16 Feb 2016 Finding Abnormality of the intervertebral disk Human Phenotype Ontology C4025249 HP:0005108 16 Feb 2016 Finding Abnormality of the intestine Human Phenotype Ontology C4316788 HP:0002242 16 Feb 2016 Finding Abnormality of the intrahepatic bile duct Human Phenotype Ontology C4023577 HP:0011040 16 Feb 2016 Finding Abnormality of the intrinsic pathway Human Phenotype Ontology C4023610 HP:0010989 16 Feb 2016 Finding Abnormality of the ischium Human Phenotype Ontology C0685661 HP:0003174 16 Feb 2016 Finding Abnormality of the jejunum Human Phenotype Ontology C4025224 HP:0005265 16 Feb 2016 Finding Abnormality of the joint spaces of the elbow Human Phenotype Ontology C4025491 HP:0003943 16 Feb 2016 Finding Abnormality of the kidney Human Phenotype Ontology C0266292 HP:0000077 16 Feb 2016 Finding Abnormality of the kinin-kallikrein system Human Phenotype Ontology C4025178 HP:0005559 16 Feb 2016 Finding Abnormality of the knee Human Phenotype Ontology C4025676 HP:0002815 02 Apr 2017 Finding Abnormality of the labia Human Phenotype Ontology C4025892 HP:0000058 16 Feb 2016 Finding Abnormality of the labia majora Human Phenotype Ontology C4022695 HP:0012881 16 Feb 2016 Finding Abnormality of the labia minora Human Phenotype Ontology C4022696 HP:0012880 16 Feb 2016 Finding Abnormality of the lacrimal bone Human Phenotype Ontology C4021872 HP:0430002 16 Feb 2016 Finding Abnormality of the lacrimal gland Human Phenotype Ontology C4023336 HP:0011482 16 Feb 2016 Finding Abnormality of the lacrimal punctum Human Phenotype Ontology C4023337 HP:0011479 16 Feb 2016 Finding Abnormality of the large intestine Human Phenotype Ontology C4025715 HP:0002250 16 Feb 2016 Finding Abnormality of the larynx Human Phenotype Ontology C4021777 HP:0001600 16 Feb 2016 Finding Abnormality of the left hemidiaphragm Human Phenotype Ontology C4022471 HP:0040046 16 Feb 2016 Finding Abnormality of the left ventricular outflow tract Human Phenotype Ontology C0344916 HP:0011103 16 Feb 2016 Finding Abnormality of the lens Human Phenotype Ontology C0549651 HP:0000517 16 Feb 2016 Finding Abnormality of the level of lipoprotein cholesterol Human Phenotype Ontology C4023615 HP:0010979 16 Feb 2016 Finding Abnormality of the Leydig cells Human Phenotype Ontology C4023703 HP:0010789 16 Feb 2016 Finding Abnormality of the line of Schwalbe Human Phenotype Ontology C4021856 HP:0008048 16 Feb 2016 Finding Abnormality of the lip Human Phenotype Ontology C2183966 HP:0000159 16 Feb 2016 Finding Abnormality of the liver Human Phenotype Ontology C4021780 HP:0001392 16 Feb 2016 Finding Abnormality of the lower limb Human Phenotype Ontology C1096086 HP:0002814 16 Feb 2016 Finding Abnormality of the lower urinary tract Human Phenotype Ontology C4023640 HP:0010936 16 Feb 2016 Finding Abnormality of the lumbar spine Human Phenotype Ontology C4021988 HP:0100712 16 Feb 2016 Finding Abnormality of the lumbosacral nerve plexus Human Phenotype Ontology C4073177 HP:0045053 16 Feb 2016 Finding Abnormality of the lunate bone Human Phenotype Ontology C4025393 HP:0004248 16 Feb 2016 Finding Abnormality of the lung NCBI curation C4021760 16 Feb 2016 Finding Abnormality of the lymph nodes Human Phenotype Ontology C0149727 HP:0002733 16 Feb 2016 Finding Abnormality of the lymphatic system Human Phenotype Ontology C4021976 HP:0100763 16 Feb 2016 Finding Abnormality of the male genitalia Human Phenotype Ontology C4023819 HP:0010461 16 Feb 2016 Finding Abnormality of the malleus Human Phenotype Ontology C4023349 HP:0011454 16 Feb 2016 Finding Abnormality of the mandible Human Phenotype Ontology C4025870 HP:0000277 16 Feb 2016 Finding Abnormality of the mastoid Human Phenotype Ontology C4025872 HP:0000264 16 Feb 2016 Finding Abnormality of the maxilla Human Phenotype Ontology C4025862 HP:0000326 16 Feb 2016 Finding Abnormality of the maxillary sinus Human Phenotype Ontology C4073205 HP:0430023 16 Feb 2016 Finding Abnormality of the mediastinum Human Phenotype Ontology C4022395 HP:0045026 16 Feb 2016 Finding Abnormality of the medulla oblongata Human Phenotype Ontology C4021148 HP:0011441 16 Feb 2016 Finding Abnormality of the medullary cavity of the long bones Human Phenotype Ontology C4021027 HP:0100253 16 Feb 2016 Finding Abnormality of the meninges Human Phenotype Ontology C4023758 HP:0010651 16 Feb 2016 Finding Abnormality of the menstrual cycle Human Phenotype Ontology C4025888 HP:0000140 16 Feb 2016 Finding Abnormality of the metacarpal bones Human Phenotype Ontology C4021785 HP:0001163 16 Feb 2016 Finding Abnormality of the metaphysis Human Phenotype Ontology C4025814 HP:0000944 04 Apr 2018 Finding Abnormality of the metatarsal bones Human Phenotype Ontology C4025745 HP:0001832 16 Feb 2016 Finding Abnormality of the metencephalon Human Phenotype Ontology C4023432 HP:0011283 16 Feb 2016 Finding Abnormality of the metopic suture Human Phenotype Ontology C4025180 HP:0005556 16 Feb 2016 Finding Abnormality of the microglia Human Phenotype Ontology C4021990 HP:0100708 16 Feb 2016 Finding Abnormality of the middle ear Human Phenotype Ontology C1861141 HP:0000370 16 Feb 2016 Finding Abnormality of the middle ear ossicles Human Phenotype Ontology C1836678 HP:0004452 16 Feb 2016 Finding Abnormality of the middle phalanges of the hand Human Phenotype Ontology C4024191 HP:0009833 16 Feb 2016 Finding Abnormality of the middle phalanges of the toes Human Phenotype Ontology C4023981 HP:0010183 16 Feb 2016 Finding Abnormality of the middle phalanx of the 2nd finger Human Phenotype Ontology C4021448 HP:0009543 16 Feb 2016 Finding Abnormality of the middle phalanx of the 2nd toe Human Phenotype Ontology C4023884 HP:0010357 16 Feb 2016 Finding Abnormality of the middle phalanx of the 3rd finger Human Phenotype Ontology C4025410 HP:0004172 16 Feb 2016 Finding Abnormality of the middle phalanx of the 3rd toe Human Phenotype Ontology C4023877 HP:0010369 16 Feb 2016 Finding Abnormality of the middle phalanx of the 4th finger Human Phenotype Ontology C4021501 HP:0009283 16 Feb 2016 Finding Abnormality of the middle phalanx of the 4th toe Human Phenotype Ontology C4023869 HP:0010381 16 Feb 2016 Finding Abnormality of the middle phalanx of the 5th finger Human Phenotype Ontology C4025406 HP:0004219 16 Feb 2016 Finding Abnormality of the middle phalanx of the 5th toe Human Phenotype Ontology C4023861 HP:0010393 16 Feb 2016 Finding Abnormality of the midface Human Phenotype Ontology C4021811 HP:0000309 16 Feb 2016 Finding Abnormality of the midnasal cavity Human Phenotype Ontology C4021861 HP:0010641 16 Feb 2016 Finding Abnormality of the mitochondrion Human Phenotype Ontology C4023042 HP:0012103 16 Feb 2016 Finding Abnormality of the mitral valve Human Phenotype Ontology C4025759 HP:0001633 16 Feb 2016 Finding Abnormality of the mouth Human Phenotype Ontology C0026633 HP:0000153 16 Feb 2016 Finding Abnormality of the mouth floor Human Phenotype Ontology C4073191 HP:0410012 16 Feb 2016 Finding Abnormality of the musculature Human Phenotype Ontology C4021745 HP:0003011 16 Feb 2016 Finding Abnormality of the musculature of the hand Human Phenotype Ontology C4025786 HP:0001421 16 Feb 2016 Finding Abnormality of the musculature of the limbs Human Phenotype Ontology C4024582 HP:0009127 16 Feb 2016 Finding Abnormality of the musculature of the lower limbs Human Phenotype Ontology C4025784 HP:0001437 16 Feb 2016 Finding Abnormality of the musculature of the neck Human Phenotype Ontology C4023601 HP:0011006 16 Feb 2016 Finding Abnormality of the musculature of the pelvis Human Phenotype Ontology C4025768 HP:0001469 16 Feb 2016 Finding Abnormality of the musculature of the thigh Human Phenotype Ontology C4025783 HP:0001441 16 Feb 2016 Finding Abnormality of the musculature of the thorax Human Phenotype Ontology C4024580 HP:0009131 16 Feb 2016 Finding Abnormality of the musculature of the upper arm Human Phenotype Ontology C4025775 HP:0001457 16 Feb 2016 Finding Abnormality of the musculature of the upper limbs Human Phenotype Ontology C4025779 HP:0001446 16 Feb 2016 Finding Abnormality of the nail Human Phenotype Ontology C0853087 HP:0001597 16 Feb 2016 Finding Abnormality of the nares Human Phenotype Ontology C4021637 HP:0005288 16 Feb 2016 Finding Abnormality of the nasal alae Human Phenotype Ontology C4021804 HP:0000429 16 Feb 2016 Finding Abnormality of the nasal bone Human Phenotype Ontology C4023637 HP:0010939 16 Feb 2016 Finding Abnormality of the nasal bridge Human Phenotype Ontology C4021805 HP:0000422 16 Feb 2016 Finding Abnormality of the nasal cartilage Human Phenotype Ontology C4022670 HP:0030027 16 Feb 2016 Finding Abnormality of the nasal cavity Human Phenotype Ontology C4023763 HP:0010640 16 Feb 2016 Finding Abnormality of the nasal dorsum Human Phenotype Ontology C4021202 HP:0011119 16 Feb 2016 Finding Abnormality of the nasal mucosa Human Phenotype Ontology C4025854 HP:0000433 16 Feb 2016 Finding Abnormality of the nasal septum Human Phenotype Ontology C4316811 HP:0000419 16 Feb 2016 Finding Abnormality of the nasal skeleton Human Phenotype Ontology C4023639 HP:0010937 16 Feb 2016 Finding Abnormality of the nasal tip Human Phenotype Ontology C4025852 HP:0000436 16 Feb 2016 Finding Abnormality of the nasolabial region Human Phenotype Ontology C4025223 HP:0005289 16 Feb 2016 Finding Abnormality of the nasolacrimal system Human Phenotype Ontology C4025835 HP:0000614 16 Feb 2016 Finding Abnormality of the nasopharynx Human Phenotype Ontology C4025750 HP:0001739 16 Feb 2016 Finding Abnormality of the neck Human Phenotype Ontology C0266623 HP:0000464 16 Feb 2016 Finding Abnormality of the nephron Human Phenotype Ontology C4022838 HP:0012575 16 Feb 2016 Finding Abnormality of the nervous system Human Phenotype Ontology C0497552 HP:0000707 16 Feb 2016 Finding Abnormality of the nose Human Phenotype Ontology C0265736 HP:0000366 16 Feb 2016 Finding Abnormality of the occipital bone Human Phenotype Ontology C4022964 HP:0012294 16 Feb 2016 Finding Abnormality of the odontoid process Human Phenotype Ontology C1864794 HP:0003310 16 Feb 2016 Finding Abnormality of the olecranon Human Phenotype Ontology C4025430 HP:0004032 16 Feb 2016 Finding Abnormality of the oligodendroglia Human Phenotype Ontology C4021992 HP:0100706 16 Feb 2016 Finding Abnormality of the optic disc Human Phenotype Ontology C3808249 HP:0012795 16 Feb 2016 Finding Abnormality of the optic nerve Human Phenotype Ontology C0029131 HP:0000587 16 Feb 2016 Finding Abnormality of the oral cavity Human Phenotype Ontology C4025887 HP:0000163 16 Feb 2016 Finding Abnormality of the orbital region Human Phenotype Ontology C4025863 HP:0000315 16 Feb 2016 Finding Abnormality of the os naviculare pedis Human Phenotype Ontology C4022141 HP:0100339 16 Feb 2016 Finding Abnormality of the outer ear Human Phenotype Ontology C1846460 HP:0000356 16 Feb 2016 Finding Abnormality of the ovary Human Phenotype Ontology C4021818 HP:0000137 16 Feb 2016 Finding Abnormality of the palate Human Phenotype Ontology C4021815 HP:0000174 16 Feb 2016 Finding Abnormality of the palatine bone Human Phenotype Ontology C4021871 HP:0430003 16 Feb 2016 Finding Abnormality of the palm Human Phenotype Ontology C4021948 HP:0100871 16 Feb 2016 Finding Abnormality of the palmar creases Human Phenotype Ontology C0221199 HP:0010490 16 Feb 2016 Finding Abnormality of the palpebral fissures Human Phenotype Ontology C4024750 HP:0008050 16 Feb 2016 Finding Abnormality of the pancreas Human Phenotype Ontology C4025751 HP:0001732 16 Feb 2016 Finding Abnormality of the pancreatic islet cells Human Phenotype Ontology C4025043 HP:0006476 16 Feb 2016 Finding Abnormality of the paranasal sinuses Human Phenotype Ontology C4025873 HP:0000245 16 Feb 2016 Finding Abnormality of the parathyroid gland Human Phenotype Ontology C4025822 HP:0000828 16 Feb 2016 Finding Abnormality of the parathyroid morphology Human Phenotype Ontology C4023199 HP:0011766 16 Feb 2016 Finding Abnormality of the parathyroid physiology Human Phenotype Ontology C4023198 HP:0011767 16 Feb 2016 Finding Abnormality of the parietal bone Human Phenotype Ontology C4021834 HP:0002696 16 Feb 2016 Finding Abnormality of the patella Human Phenotype Ontology C4021743 HP:0003045 16 Feb 2016 Finding Abnormality of the pectoral muscle Human Phenotype Ontology C4023108 HP:0011957 16 Feb 2016 Finding Abnormality of the penis Human Phenotype Ontology C4025896 HP:0000036 16 Feb 2016 Finding Abnormality of the periodontium Human Phenotype Ontology C4477068 HP:0410026 04 Apr 2018 Finding Abnormality of the periorbital region Human Phenotype Ontology C4025837 HP:0000606 16 Feb 2016 Finding Abnormality of the periosteum Human Phenotype Ontology C4073134 HP:0040166 16 Feb 2016 Finding Abnormality of the peripheral nervous system Human Phenotype Ontology C4073187 HP:0410008 16 Feb 2016 Finding Abnormality of the peritoneum Human Phenotype Ontology C4025698 HP:0002585 16 Feb 2016 Finding Abnormality of the periungual region Human Phenotype Ontology C4021966 HP:0100803 16 Feb 2016 Finding Abnormality of the periventricular white matter Human Phenotype Ontology C2673431 HP:0002518 16 Feb 2016 Finding Abnormality of the phalanges of the 2nd finger Human Phenotype Ontology C4021450 HP:0009541 16 Feb 2016 Finding Abnormality of the phalanges of the 3rd finger Human Phenotype Ontology C4021494 HP:0009316 16 Feb 2016 Finding Abnormality of the phalanges of the 3rd toe Human Phenotype Ontology C4023899 HP:0010330 16 Feb 2016 Finding Abnormality of the phalanges of the 4th finger Human Phenotype Ontology C4021516 HP:0009172 16 Feb 2016 Finding Abnormality of the phalanges of the 4th toe Human Phenotype Ontology C4023896 HP:0010336 16 Feb 2016 Finding Abnormality of the phalanges of the 5th finger Human Phenotype Ontology C4025408 HP:0004213 16 Feb 2016 Finding Abnormality of the phalanges of the 5th toe Human Phenotype Ontology C4023892 HP:0010342 16 Feb 2016 Finding Abnormality of the phalanges of the hallux Human Phenotype Ontology C4024080 HP:0010057 16 Feb 2016 Finding Abnormality of the phalanges of the toes Human Phenotype Ontology C4023998 HP:0010161 16 Feb 2016 Finding Abnormality of the pharynx Human Phenotype Ontology C4025838 HP:0000600 16 Feb 2016 Finding Abnormality of the philtrum Human Phenotype Ontology C1857045 HP:0000288 16 Feb 2016 Finding Abnormality of the pia mater Human Phenotype Ontology C4021994 HP:0100701 16 Feb 2016 Finding Abnormality of the pineal gland Human Phenotype Ontology C4022783 HP:0012680 16 Feb 2016 Finding Abnormality of the pinna Human Phenotype Ontology C0857379 HP:0000377 16 Feb 2016 Finding Abnormality of the pituitary gland Human Phenotype Ontology C0032002 HP:0012503 16 Feb 2016 Finding Abnormality of the placenta Human Phenotype Ontology C1306893 HP:0100767 16 Feb 2016 Finding Abnormality of the plantar skin of foot Human Phenotype Ontology C4020946 HP:0100872 16 Feb 2016 Finding Abnormality of the pleura Human Phenotype Ontology C4025726 HP:0002103 16 Feb 2016 Finding Abnormality of the pons Human Phenotype Ontology C4024905 HP:0007361 16 Feb 2016 Finding Abnormality of the posterior cranial fossa Human Phenotype Ontology C3280768 HP:0000932 16 Feb 2016 Finding Abnormality of the posterior hairline Human Phenotype Ontology C4022607 HP:0030141 16 Feb 2016 Finding Abnormality of the posterior pituitary Human Phenotype Ontology C4023204 HP:0011751 16 Feb 2016 Finding Abnormality of the posterior segment of the globe Human Phenotype Ontology C4025354 HP:0004329 02 Apr 2017 Finding Abnormality of the premaxilla Human Phenotype Ontology C4023711 HP:0010758 16 Feb 2016 Finding Abnormality of the preputium Human Phenotype Ontology C4022016 HP:0100587 16 Feb 2016 Finding Abnormality of the prostate Human Phenotype Ontology C0747987 HP:0008775 16 Feb 2016 Finding Abnormality of the protein C anticoagulant pathway Human Phenotype Ontology C4280774 HP:0030780 02 Apr 2017 Finding Abnormality of the proximal fibular epiphysis Human Phenotype Ontology C4023779 HP:0010594 16 Feb 2016 Finding Abnormality of the proximal humeral epiphysis Human Phenotype Ontology C4023775 HP:0010598 16 Feb 2016 Finding Abnormality of the proximal phalanges of the hand Human Phenotype Ontology C4024190 HP:0009834 16 Feb 2016 Finding Abnormality of the proximal phalanx of the 2nd finger Human Phenotype Ontology C4021447 HP:0009544 16 Feb 2016 Finding Abnormality of the proximal phalanx of the 2nd toe Human Phenotype Ontology C4023883 HP:0010358 16 Feb 2016 Finding Abnormality of the proximal phalanx of the 3rd finger Human Phenotype Ontology C4021485 HP:0009358 16 Feb 2016 Finding Abnormality of the proximal phalanx of the 3rd toe Human Phenotype Ontology C4023876 HP:0010370 16 Feb 2016 Finding Abnormality of the proximal phalanx of the 4th finger Human Phenotype Ontology C4021500 HP:0009284 16 Feb 2016 Finding Abnormality of the proximal phalanx of the 4th toe Human Phenotype Ontology C4023868 HP:0010382 16 Feb 2016 Finding Abnormality of the proximal phalanx of the 5th finger Human Phenotype Ontology C4024570 HP:0009150 16 Feb 2016 Finding Abnormality of the proximal phalanx of the 5th toe Human Phenotype Ontology C4023860 HP:0010394 16 Feb 2016 Finding Abnormality of the proximal phalanx of the hallux Human Phenotype Ontology C4024084 HP:0010052 16 Feb 2016 Finding Abnormality of the proximal phalanx of the thumb Human Phenotype Ontology C4021421 HP:0009618 16 Feb 2016 Finding Abnormality of the proximal radial epiphysis Human Phenotype Ontology C4023777 HP:0010596 16 Feb 2016 Finding Abnormality of the proximal tibial epiphysis Human Phenotype Ontology C4023782 HP:0010591 16 Feb 2016 Finding Abnormality of the proximal ulnar epiphysis Human Phenotype Ontology C4023772 HP:0010601 16 Feb 2016 Finding Abnormality of the pubic bone Human Phenotype Ontology C4021738 HP:0003172 16 Feb 2016 Finding Abnormality of the pubic hair Human Phenotype Ontology C4022288 HP:0100133 16 Feb 2016 Finding Abnormality of the pulmonary artery Human Phenotype Ontology C0009681 HP:0004414 16 Feb 2016 Finding Abnormality of the pulmonary vasculature Human Phenotype Ontology C4025271 HP:0004930 16 Feb 2016 Finding Abnormality of the pulmonary veins Human Phenotype Ontology C0265914 HP:0011718 16 Feb 2016 Finding Abnormality of the pylorus Human Phenotype Ontology C4025326 HP:0004400 16 Feb 2016 Finding Abnormality of the radial head Human Phenotype Ontology C4021696 HP:0003995 16 Feb 2016 Finding Abnormality of the radioulnar joints Human Phenotype Ontology C4025658 HP:0003059 16 Feb 2016 Finding Abnormality of the radius Human Phenotype Ontology C4025675 HP:0002818 16 Feb 2016 Finding Abnormality of the rectum Human Phenotype Ontology C0266210 HP:0002034 16 Feb 2016 Finding Abnormality of the reflex of the tensor tympanii muscle Human Phenotype Ontology C4022427 HP:0040120 16 Feb 2016 Finding Abnormality of the renal collecting system Human Phenotype Ontology C1851303 HP:0004742 16 Feb 2016 Finding Abnormality of the renal medulla Human Phenotype Ontology C4021911 HP:0100957 16 Feb 2016 Finding Abnormality of the renal pelvis Human Phenotype Ontology C4023633 HP:0010944 16 Feb 2016 Finding Abnormality of the renal tubule Human Phenotype Ontology C4021826 HP:0000091 16 Feb 2016 Finding Abnormality of the respiratory system Human Phenotype Ontology C4018871 HP:0002086 16 Feb 2016 Finding Abnormality of the retinal vasculature Human Phenotype Ontology C4024753 HP:0008046 16 Feb 2016 Finding Abnormality of the rib cage Human Phenotype Ontology C4025763 HP:0001547 16 Feb 2016 Finding Abnormality of the ribs Human Phenotype Ontology C1842083 HP:0000772 16 Feb 2016 Finding Abnormality of the right hemidiaphragm Human Phenotype Ontology C4022470 HP:0040047 16 Feb 2016 Finding Abnormality of the right ventricle Human Phenotype Ontology C0344887 HP:0001707 16 Feb 2016 Finding Abnormality of the round window Human Phenotype Ontology C4022441 HP:0040099 16 Feb 2016 Finding Abnormality of the sacroiliac joint Human Phenotype Ontology C0262621 HP:0100781 16 Feb 2016 Finding Abnormality of the sacroiliac notch Human Phenotype Ontology C4022550 HP:0030266 16 Feb 2016 Finding Abnormality of the sacrum Human Phenotype Ontology C4025250 HP:0005107 16 Feb 2016 Finding Abnormality of the scalp Human Phenotype Ontology C4025734 HP:0001965 16 Feb 2016 Finding Abnormality of the scalp hair Human Phenotype Ontology C4022384 HP:0100037 16 Feb 2016 Finding Abnormality of the scaphoid Human Phenotype Ontology C4025397 HP:0004243 16 Feb 2016 Finding Abnormality of the scapula Human Phenotype Ontology C4025828 HP:0000782 16 Feb 2016 Finding Abnormality of the sclera Human Phenotype Ontology C4025840 HP:0000591 16 Feb 2016 Finding Abnormality of the scrotum Human Phenotype Ontology C4025895 HP:0000045 16 Feb 2016 Finding Abnormality of the second metatarsal bone Human Phenotype Ontology C4022479 HP:0040034 16 Feb 2016 Finding Abnormality of the sella turcica Human Phenotype Ontology C4021754 HP:0002679 16 Feb 2016 Finding Abnormality of the sense of smell Human Phenotype Ontology C4021655 HP:0004408 16 Feb 2016 Finding Abnormality of the septum pellucidum Human Phenotype Ontology C4024894 HP:0007375 16 Feb 2016 Finding Abnormality of the seventh cranial nerve Human Phenotype Ontology C4021223 HP:0010827 16 Feb 2016 Finding Abnormality of the shape of the midface Human Phenotype Ontology C4073208 HP:0430026 16 Feb 2016 Finding Abnormality of the shoulder Human Phenotype Ontology C4025659 HP:0003043 16 Feb 2016 Finding Abnormality of the shoulder girdle musculature Human Phenotype Ontology C4021778 HP:0001435 16 Feb 2016 Finding Abnormality of the sixth cranial nerve Human Phenotype Ontology C4023404 HP:0011348 16 Feb 2016 Finding Abnormality of the skeletal system Human Phenotype Ontology C4021790 HP:0000924 16 Feb 2016 Finding Abnormality of the skin Human Phenotype Ontology C0037268 HP:0000951 16 Feb 2016 Finding Abnormality of the skin of the palm Human Phenotype Ontology C4073159 HP:0040211 02 Apr 2017 Finding Abnormality of the skull Human Phenotype Ontology C0235942 HP:0000929 16 Feb 2016 Finding Abnormality of the skull base Human Phenotype Ontology C4025688 HP:0002693 16 Feb 2016 Finding Abnormality of the small intestine Human Phenotype Ontology C4025717 HP:0002244 16 Feb 2016 Finding Abnormality of the soft palate Human Phenotype Ontology C4021984 HP:0100736 16 Feb 2016 Finding Abnormality of the somatic nervous system Human Phenotype Ontology C4073188 HP:0410009 16 Feb 2016 Finding Abnormality of the sphenoid sinus Human Phenotype Ontology C4073204 HP:0430022 16 Feb 2016 Finding Abnormality of the spinal cord Human Phenotype Ontology C4025722 HP:0002143 16 Feb 2016 Finding Abnormality of the spinal dura mater Human Phenotype Ontology C4024214 HP:0009744 16 Feb 2016 Finding Abnormality of the spinal meninges Human Phenotype Ontology C4023914 HP:0010303 16 Feb 2016 Finding Abnormality of the spinocerebellar tracts Human Phenotype Ontology C4025647 HP:0003133 16 Feb 2016 Finding Abnormality of the spleen Human Phenotype Ontology C4025749 HP:0001743 16 Feb 2016 Finding Abnormality of the stapes Human Phenotype Ontology C4021532 HP:0008628 16 Feb 2016 Finding Abnormality of the sternum Human Phenotype Ontology C1860493 HP:0000766 16 Feb 2016 Finding Abnormality of the stomach Human Phenotype Ontology C4025699 HP:0002577 16 Feb 2016 Finding Abnormality of the striatum Human Phenotype Ontology C4023607 HP:0010994 16 Feb 2016 Finding Abnormality of the styloid process of ulna Human Phenotype Ontology C4025427 HP:0004035 16 Feb 2016 Finding Abnormality of the subarachnoid space Human Phenotype Ontology C4022765 HP:0012703 16 Feb 2016 Finding Abnormality of the sublingual glands Human Phenotype Ontology C4023919 HP:0010288 16 Feb 2016 Finding Abnormality of the submandibular glands Human Phenotype Ontology C4023920 HP:0010287 16 Feb 2016 Finding Abnormality of the submandibular region Human Phenotype Ontology C4073192 HP:0410013 16 Feb 2016 Finding Abnormality of the substantia nigra Human Phenotype Ontology C4022403 HP:0045007 16 Feb 2016 Finding Abnormality of the subungual region Human Phenotype Ontology C4024219 HP:0009723 16 Feb 2016 Finding Abnormality of the superior cerebellar peduncle Human Phenotype Ontology C4023120 HP:0011932 16 Feb 2016 Finding Abnormality of the supraorbital ridges Human Phenotype Ontology C4022027 HP:0100538 16 Feb 2016 Finding Abnormality of the suspensory ligament of lens Human Phenotype Ontology C4021077 HP:0012628 16 Feb 2016 Finding Abnormality of the sweat gland Human Phenotype Ontology C0262643 HP:0000971 16 Feb 2016 Finding Abnormality of the synovia Human Phenotype Ontology C4025225 HP:0005262 16 Feb 2016 Finding Abnormality of the talus Human Phenotype Ontology C4024688 HP:0008365 16 Feb 2016 Finding Abnormality of the tarsal bones Human Phenotype Ontology C1862136 HP:0001850 16 Feb 2016 Finding Abnormality of the temporal bone Human Phenotype Ontology C4024163 HP:0009911 16 Feb 2016 Finding Abnormality of the temporomandibular joint Human Phenotype Ontology C1865318 HP:0010754 16 Feb 2016 Finding Abnormality of the testis Human Phenotype Ontology C4759656 HP:0000035 16 Feb 2016 Finding Abnormality of the testis size Human Phenotype Ontology C4073180 HP:0045058 02 Apr 2017 Finding Abnormality of the thenar eminence Human Phenotype Ontology C4021783 HP:0001227 16 Feb 2016 Finding Abnormality of the third metatarsal bone Human Phenotype Ontology C4023748 HP:0010672 16 Feb 2016 Finding Abnormality of the third ventricle Human Phenotype Ontology C4023629 HP:0010951 16 Feb 2016 Finding Abnormality of the thoracic cavity Human Phenotype Ontology C4022394 HP:0045027 16 Feb 2016 Finding Abnormality of the thoracic spine Human Phenotype Ontology C4021989 HP:0100711 16 Feb 2016 Finding Abnormality of the thorax Human Phenotype Ontology C4021797 HP:0000765 16 Feb 2016 Finding Abnormality of the thymus Human Phenotype Ontology C0262650 HP:0000777 16 Feb 2016 Finding Abnormality of the thyroid gland Human Phenotype Ontology C4317107 HP:0000820 16 Feb 2016 Finding Abnormality of the tibial metaphysis Human Phenotype Ontology C4025038 HP:0006491 16 Feb 2016 Finding Abnormality of the tibial plateaux Human Phenotype Ontology C4025564 HP:0003832 16 Feb 2016 Finding Abnormality of the tongue Human Phenotype Ontology C0878638 HP:0000157 16 Feb 2016 Finding Abnormality of the tongue muscle Human Phenotype Ontology C4073139 HP:0040173 16 Feb 2016 Finding Abnormality of the tonsils Human Phenotype Ontology C4021975 HP:0100765 16 Feb 2016 Finding Abnormality of the trabecular meshwork Human Phenotype Ontology C4022814 HP:0012630 16 Feb 2016 Finding Abnormality of the trachea Human Phenotype Ontology C4025678 HP:0002778 16 Feb 2016 Finding Abnormality of the tracheobronchial system Human Phenotype Ontology C4021631 HP:0005607 16 Feb 2016 Finding Abnormality of the tragus Human Phenotype Ontology C4024162 HP:0009912 16 Feb 2016 Finding Abnormality of the trapezium Human Phenotype Ontology C4025390 HP:0004252 16 Feb 2016 Finding Abnormality of the trapezoid bone Human Phenotype Ontology C4025388 HP:0004256 16 Feb 2016 Finding Abnormality of the tricuspid valve Human Phenotype Ontology C4025753 HP:0001702 16 Feb 2016 Finding Abnormality of the twelfth cranial nerve Human Phenotype Ontology C4021224 HP:0010826 16 Feb 2016 Finding Abnormality of the tympanic membrane Human Phenotype Ontology C4022447 HP:0040090 16 Feb 2016 Finding Abnormality of the ulna Human Phenotype Ontology C4025662 HP:0002997 16 Feb 2016 Finding Abnormality of the ulnar epiphyses Human Phenotype Ontology C4021689 HP:0004037 16 Feb 2016 Finding Abnormality of the umbilical cord Human Phenotype Ontology C0266785 HP:0010881 16 Feb 2016 Finding Abnormality of the umbilicus Human Phenotype Ontology C1849338 HP:0001551 16 Feb 2016 Finding Abnormality of the upper arm Human Phenotype Ontology C4025776 HP:0001454 16 Feb 2016 Finding Abnormality of the upper limb Human Phenotype Ontology C4020900 HP:0002817 16 Feb 2016 Finding Abnormality of the upper respiratory tract Human Phenotype Ontology C4025727 HP:0002087 16 Feb 2016 Finding Abnormality of the upper urinary tract Human Phenotype Ontology C4023641 HP:0010935 16 Feb 2016 Finding Abnormality of the urachus Human Phenotype Ontology C4023811 HP:0010478 16 Feb 2016 Finding Abnormality of the ureter Human Phenotype Ontology C1840382 HP:0000069 16 Feb 2016 Finding Abnormality of the urethra Human Phenotype Ontology C4025826 HP:0000795 16 Feb 2016 Finding Abnormality of the urinary system Human Phenotype Ontology C4021821 HP:0000079 16 Feb 2016 Finding Abnormality of the urinary system physiology Human Phenotype Ontology C4023437 HP:0011277 16 Feb 2016 Finding Abnormality of the uterine cervix Human Phenotype Ontology C4022694 HP:0012888 16 Feb 2016 Finding Abnormality of the uvea Human Phenotype Ontology C4025842 HP:0000553 16 Feb 2016 Finding Abnormality of the uvula Human Phenotype Ontology C4025885 HP:0000172 16 Feb 2016 Finding Abnormality of the vagina Human Phenotype Ontology C1856023 HP:0000142 16 Feb 2016 Finding Abnormality of the vasculature Human Phenotype Ontology C0241657 HP:0002597 16 Feb 2016 Finding Abnormality of the vasculature of the conjunctiva Human Phenotype Ontology C4024747 HP:0008054 16 Feb 2016 Finding Abnormality of the vasculature of the eye Human Phenotype Ontology C4024752 HP:0008047 16 Feb 2016 Finding Abnormality of the vertebral column Human Phenotype Ontology C4021789 HP:0000925 16 Feb 2016 Finding Abnormality of the vertebral endplates Human Phenotype Ontology C4025251 HP:0005106 16 Feb 2016 Finding Abnormality of the vertebral spinous processes Human Phenotype Ontology C4024661 HP:0008516 16 Feb 2016 Finding Abnormality of the vestibular nerve Human Phenotype Ontology C4023379 HP:0011392 16 Feb 2016 Finding Abnormality of the vestibular window Human Phenotype Ontology C4021035 HP:0040100 16 Feb 2016 Finding Abnormality of the vestibulocochlear nerve Human Phenotype Ontology C4021431 HP:0009591 16 Feb 2016 Finding Abnormality of the vitamin B3 metabolism Human Phenotype Ontology C4022040 HP:0100496 16 Feb 2016 Finding Abnormality of the vitreous humor Human Phenotype Ontology C4025356 HP:0004327 16 Feb 2016 Finding Abnormality of the vocal cords Human Phenotype Ontology C0262665 HP:0008777 16 Feb 2016 Finding Abnormality of the voice Human Phenotype Ontology C4021776 HP:0001608 16 Feb 2016 Finding Abnormality of the wing of the ilium Human Phenotype Ontology C4023156 HP:0011867 16 Feb 2016 Finding Abnormality of the wrist Human Phenotype Ontology C4021744 HP:0003019 16 Feb 2016 Finding Abnormality of the xiphoid process Human Phenotype Ontology C4021943 HP:0100892 16 Feb 2016 Finding Abnormality of the zygomatic arch Human Phenotype Ontology C4025179 HP:0005557 16 Feb 2016 Finding Abnormality of the zygomatic bone Human Phenotype Ontology C4023749 HP:0010668 16 Feb 2016 Finding Abnormality of threonine metabolism Human Phenotype Ontology C4023666 HP:0010900 16 Feb 2016 Finding Abnormality of thrombocytes Human Phenotype Ontology C0151854 HP:0001872 16 Feb 2016 Finding Abnormality of thromboxane metabolism Human Phenotype Ontology C5139108 HP:0030389 16 Feb 2016 Finding Abnormality of thumb epiphysis Human Phenotype Ontology C4021429 HP:0009599 16 Feb 2016 Finding Abnormality of thumb phalanx Human Phenotype Ontology C4021428 HP:0009602 16 Feb 2016 Finding Abnormality of thyroid morphology Human Phenotype Ontology C4023195 HP:0011772 16 Feb 2016 Finding Abnormality of thyroid physiology Human Phenotype Ontology C0857576 HP:0002926 16 Feb 2016 Finding Abnormality of tibia morphology Human Phenotype Ontology C4025663 HP:0002992 04 Apr 2018 Finding Abnormality of tibial epiphyses Human Phenotype Ontology C4025030 HP:0006508 16 Feb 2016 Finding Abnormality of toe Human Phenotype Ontology C2674738 HP:0001780 16 Feb 2016 Finding Abnormality of toe proximal phalanx Human Phenotype Ontology C4021327 HP:0010184 16 Feb 2016 Finding Abnormality of transition element cation homeostasis Human Phenotype Ontology C4023584 HP:0011030 16 Feb 2016 Finding Abnormality of tryptophan metabolism Human Phenotype Ontology C4025335 HP:0004365 16 Feb 2016 Finding Abnormality of tumor necrosis factor secretion Human Phenotype Ontology C4023529 HP:0011118 16 Feb 2016 Finding Abnormality of tyrosine metabolism Human Phenotype Ontology C5139049 HP:0010917 16 Feb 2016 Finding Abnormality of ulnar metaphysis Human Phenotype Ontology C4025424 HP:0004039 16 Feb 2016 Finding Abnormality of umbilical vein blood flow Human Phenotype Ontology C4023631 HP:0010949 16 Feb 2016 Finding Abnormality of unsaturated fatty acid metabolism Human Phenotype Ontology C5139059 HP:0011022 16 Feb 2016 Finding Abnormality of upper eyelashes Human Phenotype Ontology C4022467 HP:0040051 16 Feb 2016 Finding Abnormality of upper limb bone Human Phenotype Ontology C4022454 HP:0040070 16 Feb 2016 Finding Abnormality of upper limb epiphysis morphology Human Phenotype Ontology C4021722 HP:0003839 16 Feb 2016 Finding Abnormality of upper limb joint Human Phenotype Ontology C4021387 HP:0009810 16 Feb 2016 Finding Abnormality of upper limb metaphysis Human Phenotype Ontology C4021388 HP:0009809 16 Feb 2016 Finding Abnormality of upper lip Human Phenotype Ontology C4025884 HP:0000177 16 Feb 2016 Finding Abnormality of upper lip vermillion Human Phenotype Ontology C4023406 HP:0011339 16 Feb 2016 Finding Abnormality of urinary uric acid concentration Human Phenotype Ontology C4022822 HP:0012610 16 Feb 2016 Finding Abnormality of urine bicarbonate concentration Human Phenotype Ontology C4023435 HP:0011279 16 Feb 2016 Finding Abnormality of urine calcium concentration Human Phenotype Ontology C4023434 HP:0011280 16 Feb 2016 Finding Abnormality of urine catecholamine concentration Human Phenotype Ontology C4023433 HP:0011281 16 Feb 2016 Finding Abnormality of urine glucose concentration Human Phenotype Ontology C4023596 HP:0011016 16 Feb 2016 Finding Abnormality of urine homeostasis Human Phenotype Ontology C4025655 HP:0003110 16 Feb 2016 Finding Abnormality of urine hormone level Human Phenotype Ontology C4023069 HP:0012029 16 Feb 2016 Finding Abnormality of uvular muscle Human Phenotype Ontology C4073199 HP:0430017 16 Feb 2016 Finding Abnormality of valine metabolism Human Phenotype Ontology C4023656 HP:0010914 16 Feb 2016 Finding Abnormality of venous physiology Human Phenotype Ontology C4280744 HP:0030846 02 Apr 2017 Finding Abnormality of vertebral epiphysis morphology Human Phenotype Ontology C4020953 HP:0100734 16 Feb 2016 Finding Abnormality of vision Human Phenotype Ontology C4025846 HP:0000504 16 Feb 2016 Finding Abnormality of visual evoked potentials Human Phenotype Ontology C0522214 HP:0000649 16 Feb 2016 Finding Abnormality of vitamin A metabolism Human Phenotype Ontology C4024686 HP:0008372 16 Feb 2016 Finding Abnormality of vitamin B metabolism Human Phenotype Ontology C4021659 HP:0004340 16 Feb 2016 Finding Abnormality of vitamin B12 metabolism Human Phenotype Ontology C4021658 HP:0004341 02 Apr 2017 Finding Abnormality of vitamin C metabolism Human Phenotype Ontology C4021863 HP:0100509 16 Feb 2016 Finding Abnormality of vitamin D metabolism Human Phenotype Ontology C4022035 HP:0100511 16 Feb 2016 Finding Abnormality of vitamin E metabolism Human Phenotype Ontology C4022034 HP:0100514 16 Feb 2016 Finding Abnormality of vitamin K metabolism Human Phenotype Ontology C4021958 HP:0100831 16 Feb 2016 Finding Abnormality of vitamin metabolism Human Phenotype Ontology C4022036 HP:0100508 16 Feb 2016 Finding Abnormality of vomer Human Phenotype Ontology C4020914 HP:0410000 16 Feb 2016 Finding Abnormality of von Willebrand factor Human Phenotype Ontology C4023023 HP:0012146 16 Feb 2016 Finding Abnormality of xanthine metabolism Human Phenotype Ontology C5139051 HP:0010933 16 Feb 2016 Finding Abnormality of zinc homeostasis Human Phenotype Ontology C4024711 HP:0008277 16 Feb 2016 Finding Abnormality of zygomaticus major muscle Human Phenotype Ontology C4073227 HP:3000018 16 Feb 2016 Finding Abnormality of zygomaticus minor muscle Human Phenotype Ontology C4073229 HP:3000020 16 Feb 2016 Finding Abnormality on pulmonary function testing Human Phenotype Ontology C0476405 HP:0030878 02 Apr 2017 Finding Abnormally folded helix Human Phenotype Ontology C1970777 HP:0008544 16 Feb 2016 Finding Abnormally lax or hyperextensible skin Human Phenotype Ontology C4024736 HP:0008067 16 Feb 2016 Finding Abnormally low T-cell receptor excision circle level Human Phenotype Ontology C4531052 HP:0031545 04 Apr 2018 Finding Abnormally low-pitched voice Human Phenotype Ontology C4023915 HP:0010300 16 Feb 2016 Finding Abnormally prominent line of Schwalbe Human Phenotype Ontology C1862376 HP:0007873 16 Feb 2016 Finding Abnormally shaped carpal bones Human Phenotype Ontology C1860111 HP:0006014 16 Feb 2016 Finding Abnormally straight spine Human Phenotype Ontology C4021969 HP:0100795 16 Feb 2016 Finding ABO blood group system NCBI curation C0000778 616093 16 Feb 2016 Blood group Abolished vibration sense Human Phenotype Ontology C1837520 HP:0006944 16 Feb 2016 Finding Aborted sudden cardiac death 22 Oct 2019 Disease Abortive cerebellar ataxia C0221061 210000 16 Feb 2016 Disease ABri amyloidosis MONDO C1867773 MONDO:0008306 176500 17 Apr 2020 Disease Abrikosov's tumor 16 Feb 2016 Disease Abruzzo-Erickson syndrome MONDO C1844862 MONDO:0010554 302905 22 Apr 2020 Disease Abscess MONDO C0000833 MONDO:0005227 04 Jun 2020 Infectious disease Absence epileply intractable withoutut status epilepticus 05 Sep 2019 Finding absence of absent speech CN219812 16 Feb 2016 Finding Absence of acoustic reflex Human Phenotype Ontology C1832834 HP:0008529 16 Feb 2016 Finding Absence of alpha granules Human Phenotype Ontology C4022864 HP:0012526 16 Feb 2016 Finding absence of axilla hair 22 Aug 2019 Finding Absence of bactericidal oxidative 'respiratory burst' in phagocytes Human Phenotype Ontology C1844385 HP:0002723 16 Feb 2016 Finding Absence of CD4-positive, CD25-positive regulatory T cells Human Phenotype Ontology C4021039 HP:0030336 16 Feb 2016 Finding Absence of CD8+ T cells Human Phenotype Ontology C4025197 HP:0005422 16 Feb 2016 Finding absence of elevated GABA in basal ganglia CN224068 16 Feb 2016 Finding absence of ETC deficiency in muscle CN224069 16 Feb 2016 Finding Absence of fingerprints congenital milia 16 Feb 2016 Disease Absence of gluteal muscle 16 Feb 2016 Disease absence of growth retardation CN219814 16 Feb 2016 Finding absence of hyperreflexia CN224070 16 Feb 2016 Finding absence of hypotonia CN224071 16 Feb 2016 Finding Absence of innominate vein MONDO CN207305 MONDO:0020443 17 Apr 2020 Disease Absence of intermediate von Willibrand factor multimers Human Phenotype Ontology C4022613 HP:0030135 16 Feb 2016 Finding absence of intractable seizures CN224072 16 Feb 2016 Finding Absence of intrinsic factor Human Phenotype Ontology C4021641 HP:0005219 16 Feb 2016 Finding Absence of labia majora Human Phenotype Ontology C1849575 HP:0008729 16 Feb 2016 Finding Absence of large von Willibrand factor multimers Human Phenotype Ontology C4022616 HP:0030132 16 Feb 2016 Finding Absence of Lutheran antigen on erythrocytes Human Phenotype Ontology C4023619 HP:0010971 16 Feb 2016 Finding Absence of lymph node germinal center Human Phenotype Ontology C1847383 HP:0002849 16 Feb 2016 Finding Absence of mature B cells Human Phenotype Ontology C4022558 HP:0030252 16 Feb 2016 Finding absence of Megacystis-microcolon-intestinal hypoperistalsis syndrome CN219808 16 Feb 2016 Finding Absence of memory B cells Human Phenotype Ontology C4022559 HP:0030251 16 Feb 2016 Finding absence of microcephaly CN219813 16 Feb 2016 Finding Absence of pectoralis minor muscle Human Phenotype Ontology C1868158 HP:0005255 16 Feb 2016 Finding absence of progressive spastic tetraplegia CN219815 16 Feb 2016 Finding Absence of pubertal development Human Phenotype Ontology C1846228 HP:0008197 16 Feb 2016 Finding Absence of renal corticomedullary differentiation Human Phenotype Ontology C1849765 HP:0005564 16 Feb 2016 Finding Absence of secondary sex characteristics Human Phenotype Ontology C4021551 HP:0008187 16 Feb 2016 Finding Absence of septum pellucidum 16 Feb 2016 Disease absence of severe ID CN219811 16 Feb 2016 Finding absence of severe psychomotor retardation CN224073 16 Feb 2016 Finding Absence of Stensen duct Human Phenotype Ontology C1858569 HP:0000198 16 Feb 2016 Finding Absence of stomach bubble on fetal sonography Human Phenotype Ontology C4023625 HP:0010963 16 Feb 2016 Finding Absence of subcutaneous fat Human Phenotype Ontology C0241267 HP:0007485 16 Feb 2016 Finding Absence of subcutaneous fat over entire body except buttocks, hips, and thighs C1847588 16 Feb 2016 Finding Absence of the pulmonary valve Human Phenotype Ontology C0265831 HP:0005134 16 Feb 2016 Finding Absence of the reflex of the tensor tympani muscle Human Phenotype Ontology C4022430 HP:0040114 16 Feb 2016 Finding Absence of the sacrum Human Phenotype Ontology C4476549 HP:0010305 16 Feb 2016 Finding Absence of the third cerebral ventricle Human Phenotype Ontology C4023753 HP:0010661 16 Feb 2016 Finding Absence seizure 14 Feb 2020 Finding Absence seizures Human Phenotype Ontology C4316903 HP:0002121 16 Feb 2016 Finding Absence seizures with eyelid myoclonia Human Phenotype Ontology C4023513 HP:0011149 16 Feb 2016 Finding Absent Achilles reflex Human Phenotype Ontology C0558845 HP:0003438 16 Feb 2016 Finding Absent ankle pulse Human Phenotype Ontology C4531233 HP:0031271 04 Apr 2018 Finding Absent anterior eye chamber Human Phenotype Ontology C0271004 HP:0008037 16 Feb 2016 Finding Absent antihelix Human Phenotype Ontology C4023448 HP:0011234 16 Feb 2016 Finding Absent antitragus Human Phenotype Ontology C4023443 HP:0011249 16 Feb 2016 Finding Absent aortic valve cusps Human Phenotype Ontology C3164332 HP:0031569 04 Apr 2018 Finding Absent atrioventricular node Human Phenotype Ontology C4025006 HP:0006681 16 Feb 2016 Finding Absent axillary hair Human Phenotype Ontology C1859392 HP:0002221 16 Feb 2016 Finding Absent brainstem auditory responses Human Phenotype Ontology C1836742 HP:0004463 16 Feb 2016 Finding Absent cavum septum pellucidum 30 Mar 2018 Finding Absent cellular immunity Human Phenotype Ontology C1849426 HP:0005354 16 Feb 2016 Finding Absent central microtubular pair morphology of respiratory motile cilia Human Phenotype Ontology C4022982 HP:0012264 16 Feb 2016 Finding Absent cervical vertebra Human Phenotype Ontology C4477020 HP:0031175 04 Apr 2018 Finding Absent crus of helix Human Phenotype Ontology C4021185 HP:0011255 16 Feb 2016 Finding Absent cupid's bow Human Phenotype Ontology C2053435 HP:0010800 16 Feb 2016 Finding Absent distal interphalangeal creases Human Phenotype Ontology C1861349 HP:0001032 16 Feb 2016 Finding Absent distal phalanges Human Phenotype Ontology C1861339 HP:0005807 16 Feb 2016 Finding Absent distal phalanx of the 2nd toe Human Phenotype Ontology C4021268 HP:0010432 16 Feb 2016 Finding Absent distal phalanx of the 3rd toe Human Phenotype Ontology C4021011 HP:0100378 16 Feb 2016 Finding Absent dorsal skin creases over affected joints Human Phenotype Ontology C1861400 HP:0001049 16 Feb 2016 Finding Absent earlobe Human Phenotype Ontology C1849364 HP:0000387 16 Feb 2016 Finding Absent epiphyses Human Phenotype Ontology C4021862 HP:0010577 16 Feb 2016 Finding Absent epiphyses of the 2nd finger Human Phenotype Ontology C4024336 HP:0009488 16 Feb 2016 Finding Absent epiphyses of the 2nd toe Human Phenotype Ontology C4022377 HP:0100044 16 Feb 2016 Finding Absent epiphyses of the 3rd finger Human Phenotype Ontology C4024383 HP:0009410 16 Feb 2016 Finding Absent epiphyses of the 3rd toe Human Phenotype Ontology C4022366 HP:0100055 16 Feb 2016 Finding Absent epiphyses of the 4th finger Human Phenotype Ontology C4024397 HP:0009393 16 Feb 2016 Finding Absent epiphyses of the 4th toe Human Phenotype Ontology C4022355 HP:0100066 16 Feb 2016 Finding Absent epiphyses of the 5th finger Human Phenotype Ontology C4024407 HP:0009382 16 Feb 2016 Finding Absent epiphyses of the 5th toe Human Phenotype Ontology C4022344 HP:0100077 16 Feb 2016 Finding Absent epiphyses of the distal phalanges of the hand Human Phenotype Ontology C4023953 HP:0010246 16 Feb 2016 Finding Absent epiphyses of the middle phalanges of the hand Human Phenotype Ontology C4023943 HP:0010257 16 Feb 2016 Finding Absent epiphyses of the phalanges of the hand Human Phenotype Ontology C4021310 HP:0010228 16 Feb 2016 Finding Absent epiphyses of the proximal phalanges of the hand Human Phenotype Ontology C4023933 HP:0010268 16 Feb 2016 Finding Absent epiphyses of the thumb Human Phenotype Ontology C4024233 HP:0009686 16 Feb 2016 Finding Absent epiphyses of the toes Human Phenotype Ontology C4023997 HP:0010162 16 Feb 2016 Finding Absent epiphysis of the 1st metacarpal Human Phenotype Ontology C4024108 HP:0010015 16 Feb 2016 Finding Absent epiphysis of the 1st metatarsal Human Phenotype Ontology C4024010 HP:0010149 16 Feb 2016 Finding Absent epiphysis of the distal phalanx of the 2nd finger Human Phenotype Ontology C4021461 HP:0009502 16 Feb 2016 Finding Absent epiphysis of the distal phalanx of the 2nd toe Human Phenotype Ontology C4022321 HP:0100100 16 Feb 2016 Finding Absent epiphysis of the distal phalanx of the 3rd finger Human Phenotype Ontology C4024432 HP:0009335 16 Feb 2016 Finding Absent epiphysis of the distal phalanx of the 3rd toe Human Phenotype Ontology C4022286 HP:0100135 16 Feb 2016 Finding Absent epiphysis of the distal phalanx of the 4th finger Human Phenotype Ontology C4024497 HP:0009250 16 Feb 2016 Finding Absent epiphysis of the distal phalanx of the 4th toe Human Phenotype Ontology C4022252 HP:0100169 16 Feb 2016 Finding Absent epiphysis of the distal phalanx of the 5th finger Human Phenotype Ontology C4025577 HP:0003696 16 Feb 2016 Finding Absent epiphysis of the distal phalanx of the 5th toe Human Phenotype Ontology C4022219 HP:0100202 16 Feb 2016 Finding Absent epiphysis of the distal phalanx of the hallux Human Phenotype Ontology C4024021 HP:0010138 16 Feb 2016 Finding Absent epiphysis of the distal phalanx of the thumb Human Phenotype Ontology C4024242 HP:0009675 16 Feb 2016 Finding Absent epiphysis of the middle phalanx of the 2nd finger Human Phenotype Ontology C4021459 HP:0009513 16 Feb 2016 Finding Absent epiphysis of the middle phalanx of the 2nd toe Human Phenotype Ontology C4022310 HP:0100111 16 Feb 2016 Finding Absent epiphysis of the middle phalanx of the 3rd finger Human Phenotype Ontology C4024444 HP:0009321 16 Feb 2016 Finding Absent epiphysis of the middle phalanx of the 3rd toe Human Phenotype Ontology C4022275 HP:0100146 16 Feb 2016 Finding Absent epiphysis of the middle phalanx of the 4th finger Human Phenotype Ontology C4024527 HP:0009214 16 Feb 2016 Finding Absent epiphysis of the middle phalanx of the 4th toe Human Phenotype Ontology C4022241 HP:0100180 16 Feb 2016 Finding Absent epiphysis of the middle phalanx of the 5th finger Human Phenotype Ontology C4024537 HP:0009203 16 Feb 2016 Finding Absent epiphysis of the middle phalanx of the 5th toe Human Phenotype Ontology C4022208 HP:0100213 16 Feb 2016 Finding Absent epiphysis of the proximal phalanx of the 2nd finger Human Phenotype Ontology C4024309 HP:0009524 16 Feb 2016 Finding Absent epiphysis of the proximal phalanx of the 2nd toe Human Phenotype Ontology C4022299 HP:0100122 16 Feb 2016 Finding Absent epiphysis of the proximal phalanx of the 3rd finger Human Phenotype Ontology C4024422 HP:0009346 16 Feb 2016 Finding Absent epiphysis of the proximal phalanx of the 3rd toe Human Phenotype Ontology C4022264 HP:0100157 16 Feb 2016 Finding Absent epiphysis of the proximal phalanx of the 4th finger Human Phenotype Ontology C4024487 HP:0009261 16 Feb 2016 Finding Absent epiphysis of the proximal phalanx of the 4th toe Human Phenotype Ontology C4022230 HP:0100191 16 Feb 2016 Finding Absent epiphysis of the proximal phalanx of the 5th finger Human Phenotype Ontology C4024564 HP:0009160 16 Feb 2016 Finding Absent epiphysis of the proximal phalanx of the 5th toe Human Phenotype Ontology C4022197 HP:0100224 16 Feb 2016 Finding Absent epiphysis of the proximal phalanx of the hallux Human Phenotype Ontology C4024032 HP:0010127 16 Feb 2016 Finding Absent epiphysis of the proximal phalanx of the thumb Human Phenotype Ontology C4024253 HP:0009664 16 Feb 2016 Finding Absent ethmoidal sinuses Human Phenotype Ontology C4025194 HP:0005456 16 Feb 2016 Finding Absent external genitalia Human Phenotype Ontology C1848869 HP:0000042 16 Feb 2016 Finding Absent extraocular muscles Human Phenotype Ontology C4024777 HP:0007886 16 Feb 2016 Finding Absent eyebrow Human Phenotype Ontology C0431448 HP:0002223 16 Feb 2016 Finding Absent eyelashes Human Phenotype Ontology C1843005 HP:0000561 16 Feb 2016 Finding Absent facial hair Human Phenotype Ontology C1848192 HP:0002550 16 Feb 2016 Finding Absent fifth fingernail Human Phenotype Ontology C4020917 HP:0200104 16 Feb 2016 Finding Absent fifth metatarsal Human Phenotype Ontology C1867932 HP:0008079 16 Feb 2016 Finding Absent fifth toenail Human Phenotype Ontology C4021892 HP:0200105 16 Feb 2016 Finding Absent finger flexion creases 06 Nov 2018 Finding Absent fingernail Human Phenotype Ontology C1844554 HP:0001817 16 Feb 2016 Finding Absent first metatarsal Human Phenotype Ontology C1863382 HP:0010104 16 Feb 2016 Finding Absent foot Human Phenotype Ontology C0265624 HP:0011301 16 Feb 2016 Finding Absent forearm Human Phenotype Ontology C1408532 HP:0005632 16 Feb 2016 Finding Absent forearm bone Human Phenotype Ontology C4021701 HP:0003953 16 Feb 2016 Finding Absent fourth finger distal interphalangeal crease Human Phenotype Ontology C4021621 HP:0005780 16 Feb 2016 Finding Absent foveal reflex Human Phenotype Ontology C0423420 HP:0030825 02 Apr 2017 Finding Absent frontal sinuses Human Phenotype Ontology C1855669 HP:0002688 16 Feb 2016 Finding Absent gallbladder Human Phenotype Ontology C0577063 HP:0011467 16 Feb 2016 Finding Absent glenoid fossa Human Phenotype Ontology C4021589 HP:0006591 16 Feb 2016 Finding Absent gonadal tissue Human Phenotype Ontology C2118097 HP:0008633 16 Feb 2016 Finding Absent hair Human Phenotype Ontology C0574763 HP:0002298 16 Feb 2016 Finding Absent hallux Human Phenotype Ontology C1841686 HP:0012386 16 Feb 2016 Finding Absent hallux epiphysis Human Phenotype Ontology C4020906 HP:0010113 16 Feb 2016 Finding Absent hand Human Phenotype Ontology C0265594 HP:0004050 16 Feb 2016 Finding Absent humeral epiphyseal ossification Human Phenotype Ontology C4021713 HP:0003892 16 Feb 2016 Finding Absent humerus Human Phenotype Ontology C2678399 HP:0003862 16 Feb 2016 Finding Absent in utero ossification of vertebral bodies Human Phenotype Ontology C1842698 HP:0008435 16 Feb 2016 Finding Absent in utero rib ossification Human Phenotype Ontology C1842695 HP:0006615 16 Feb 2016 Finding Absent inner and outer dynein arms Human Phenotype Ontology C4022986 HP:0012259 16 Feb 2016 Finding Absent inner dynein arms Human Phenotype Ontology C4022988 HP:0012257 16 Feb 2016 Finding Absent inner eyelashes Human Phenotype Ontology C4024812 HP:0007708 16 Feb 2016 Finding Absent internal auditory canal Human Phenotype Ontology C4023384 HP:0011385 16 Feb 2016 Finding Absent internal genitalia Human Phenotype Ontology C4024637 HP:0008702 16 Feb 2016 Finding Absent knee epiphyses Human Phenotype Ontology C1859462 HP:0006400 16 Feb 2016 Finding Absent lacrimal punctum Human Phenotype Ontology C1867060 HP:0001092 16 Feb 2016 Finding Absent left hemidiaphragm Human Phenotype Ontology C4024593 HP:0009112 16 Feb 2016 Finding Absent left sided atrioventricular connection Human Phenotype Ontology C0344629 HP:0011547 16 Feb 2016 Finding absent left thumb CN239050 10 Nov 2016 Finding Absent leukocyte alkaline phosphatase Human Phenotype Ontology C4024724 HP:0008161 16 Feb 2016 Finding Absent lower eyelashes Human Phenotype Ontology C4024824 HP:0007646 16 Feb 2016 Finding Absent lunula Human Phenotype Ontology C4280758 HP:0030805 02 Apr 2017 Finding Absent malleus Human Phenotype Ontology C0576900 HP:0011455 16 Feb 2016 Finding Absent mastoid Human Phenotype Ontology C4021070 HP:0012761 16 Feb 2016 Finding Absent mesencephalon Human Phenotype Ontology C4024913 HP:0007265 16 Feb 2016 Finding Absent metacarpal epiphyses Human Phenotype Ontology C4021513 HP:0009196 16 Feb 2016 Finding Absent metatarsal bone Human Phenotype Ontology C4021232 HP:0010744 16 Feb 2016 Finding Absent microvilli on the surface of peripheral blood lymphocytes Human Phenotype Ontology C1833173 HP:0002971 16 Feb 2016 Finding Absent middle phalanx of 2nd finger Human Phenotype Ontology C4021436 HP:0009576 16 Feb 2016 Finding Absent middle phalanx of 3rd finger Human Phenotype Ontology C4021475 HP:0009438 16 Feb 2016 Finding Absent middle phalanx of 4th finger Human Phenotype Ontology C4021498 HP:0009294 16 Feb 2016 Finding Absent middle phalanx of 5th finger Human Phenotype Ontology C3277750 HP:0009162 16 Feb 2016 Finding Absent middle phalanx of the 3rd toe Human Phenotype Ontology C4021010 HP:0100381 16 Feb 2016 Finding Absent muscle dystrophin expression Human Phenotype Ontology C4022647 HP:0030097 16 Feb 2016 Finding Absent muscle fiber alpha sarcoglycan Human Phenotype Ontology C4022644 HP:0030101 16 Feb 2016 Finding Absent muscle fiber beta sarcoglyan Human Phenotype Ontology C4022639 HP:0030106 16 Feb 2016 Finding Absent muscle fiber calpain-3 Human Phenotype Ontology C4022625 HP:0030120 16 Feb 2016 Finding Absent muscle fiber delta sarcoglycan Human Phenotype Ontology C4022635 HP:0030110 16 Feb 2016 Finding Absent muscle fiber dysferlin Human Phenotype Ontology C4022631 HP:0030114 16 Feb 2016 Finding Absent muscle fiber emerin Human Phenotype Ontology C4022628 HP:0030117 16 Feb 2016 Finding Absent muscle fiber gamma sarcoglycan Human Phenotype Ontology C4022636 HP:0030109 16 Feb 2016 Finding Absent muscle fiber merosin Human Phenotype Ontology C4021055 HP:0030091 16 Feb 2016 Finding Absent nail of hallux Human Phenotype Ontology C4021081 HP:0012555 16 Feb 2016 Finding Absent nares Human Phenotype Ontology C4020963 HP:0100596 16 Feb 2016 Finding Absent nasal bone 24 Nov 2017 Finding Absent nasal bone by ultrasound 22 Jun 2020 Finding Absent nasal bridge Human Phenotype Ontology C1837888 HP:0005285 16 Feb 2016 Finding Absent nasal cartilage Human Phenotype Ontology C4022669 HP:0030028 16 Feb 2016 Finding Absent nasal septal cartilage Human Phenotype Ontology C4021638 HP:0005273 16 Feb 2016 Finding Absent natural killer cells Human Phenotype Ontology C4073163 HP:0040219 02 Apr 2017 Finding Absent neutrophil specific granules Human Phenotype Ontology C4022852 HP:0012551 16 Feb 2016 Finding Absent nipple Human Phenotype Ontology C0175755 HP:0002561 16 Feb 2016 Finding Absent or delayed speech development C3276611 16 Feb 2016 Finding absent or infrequent menstruation 14 Mar 2019 Finding Absent or minimally ossified vertebral bodies Human Phenotype Ontology C1832983 HP:0004599 16 Feb 2016 Finding Absent ossification of calvaria Human Phenotype Ontology C4021629 HP:0005623 16 Feb 2016 Finding Absent ossification of capital femoral epiphysis Human Phenotype Ontology C1968686 HP:0008820 16 Feb 2016 Finding Absent ossification of cervical vertebral bodies Human Phenotype Ontology C4025115 HP:0005885 16 Feb 2016 Finding Absent ossification of the trapezium Human Phenotype Ontology C4022408 HP:0045002 16 Feb 2016 Finding Absent ossification of thoracic vertebral bodies Human Phenotype Ontology C4022721 HP:0012792 16 Feb 2016 Finding Absent outer dynein arms Human Phenotype Ontology C4022989 HP:0012256 16 Feb 2016 Finding Absent palatine bone ossification Human Phenotype Ontology C4021867 HP:0430013 16 Feb 2016 Finding Absent palmar crease Human Phenotype Ontology C4021262 HP:0010489 16 Feb 2016 Finding Absent paranasal sinuses Human Phenotype Ontology C1857131 HP:0002689 16 Feb 2016 Finding Absent patellar reflexes Human Phenotype Ontology C0558844 HP:0006844 16 Feb 2016 Finding Absent penis Human Phenotype Ontology C4551491 HP:0030261 16 Feb 2016 Finding Absent phalangeal crease Human Phenotype Ontology C1862479 HP:0006109 16 Feb 2016 Finding Absent pigmentation of chest Human Phenotype Ontology C4022498 HP:0040007 16 Feb 2016 Finding Absent pigmentation of the abdomen Human Phenotype Ontology C4022956 HP:0012319 16 Feb 2016 Finding Absent pigmentation of the limbs Human Phenotype Ontology C4022955 HP:0012320 16 Feb 2016 Finding Absent pigmentation of the ventral chest Human Phenotype Ontology C4024848 HP:0007542 16 Feb 2016 Finding Absent posterior alpha rhythm Human Phenotype Ontology C4531069 HP:0031518 04 Apr 2018 Finding Absent primary metaphyseal spongiosa Human Phenotype Ontology C3277126 HP:0003332 16 Feb 2016 Finding Absent proximal finger flexion creases Human Phenotype Ontology C1850048 HP:0006077 16 Feb 2016 Finding Absent proximal phalanx of the 3rd toe Human Phenotype Ontology C4021009 HP:0100384 16 Feb 2016 Finding Absent proximal phalanx of thumb Human Phenotype Ontology C4021418 HP:0009637 16 Feb 2016 Finding Absent proximal radial epiphyses Human Phenotype Ontology C1855301 HP:0005093 16 Feb 2016 Finding Absent pubertal growth spurt Human Phenotype Ontology C4476965 HP:0031087 04 Apr 2018 Finding Absent pubic hair Human Phenotype Ontology C1859391 HP:0002555 16 Feb 2016 Finding Absent pulmonary artery Human Phenotype Ontology C0265905 HP:0004960 16 Feb 2016 Finding Absent radius Human Phenotype Ontology C1405984 HP:0003974 16 Feb 2016 Finding Absent radius-anogenital anomalies syndrome MONDO C1839410 MONDO:0010718 312190 17 Apr 2020 Disease Absent ray Human Phenotype Ontology C4022668 HP:0030030 16 Feb 2016 Finding Absent respiratory ciliary axoneme radial spokes Human Phenotype Ontology C4022981 HP:0012267 16 Feb 2016 Finding Absent retinal pigment epithelium Human Phenotype Ontology C1852548 HP:0007980 16 Feb 2016 Finding Absent right hand 30 Mar 2018 Finding Absent right sided atrioventricular connection Human Phenotype Ontology C0344624 HP:0011548 16 Feb 2016 Finding Absent right superior vena cava Human Phenotype Ontology C0344656 HP:0011666 16 Feb 2016 Finding Absent scaphoid Human Phenotype Ontology C1847189 HP:0011835 16 Feb 2016 Finding Absent scrotum Human Phenotype Ontology C0426320 HP:0008707 16 Feb 2016 Finding Absent septum pellucidum Human Phenotype Ontology C0431371 HP:0001331 16 Feb 2016 Finding Absent skin pigmentation Human Phenotype Ontology C2673954 HP:0200098 16 Feb 2016 Finding Absent smooth pursuit Human Phenotype Ontology C4024928 HP:0007179 16 Feb 2016 Finding Absent soft palate Human Phenotype Ontology C4476928 HP:0031046 04 Apr 2018 Finding Absent specific antibody response Human Phenotype Ontology C1863246 HP:0005424 16 Feb 2016 Finding Absent speech Human Phenotype Ontology C1854882 HP:0001344 16 Feb 2016 Finding Absent spinous processes of lower thoracic and lumbar vertebrae Human Phenotype Ontology C4024671 HP:0008464 16 Feb 2016 Finding Absent stapes Human Phenotype Ontology C0576909 HP:0011456 16 Feb 2016 Finding Absent stapes head Human Phenotype Ontology C4021888 HP:0200111 16 Feb 2016 Finding Absent sternal ossification Human Phenotype Ontology C1857074 HP:0006628 16 Feb 2016 Finding Absent styloid process of ulna Human Phenotype Ontology C4025254 HP:0005068 16 Feb 2016 Finding Absent T lymphocytes 16 Feb 2016 Disease Absent testis Human Phenotype Ontology C0342526 HP:0010469 02 Apr 2017 Finding Absent thoracic vertebra Human Phenotype Ontology C4477021 HP:0031176 04 Apr 2018 Finding Absent thumb Human Phenotype Ontology C3278811 HP:0009777 16 Feb 2016 Finding Absent thumbnail Human Phenotype Ontology C4022849 HP:0012554 16 Feb 2016 Finding Absent tibia Human Phenotype Ontology C3276744 HP:0009556 16 Feb 2016 Finding Absent tibia-polydactyly-arachnoid cyst syndrome MONDO C1832859 MONDO:0010981 601027 17 Apr 2020 Disease Absent toe Human Phenotype Ontology C3553754 HP:0010760 16 Feb 2016 Finding Absent toenail Human Phenotype Ontology C1844555 HP:0001802 16 Feb 2016 Finding Absent tonsils Human Phenotype Ontology C0576999 HP:0030813 02 Apr 2017 Finding Absent tooth ename 23 Jan 2020 Finding Absent tragus Human Phenotype Ontology C4023439 HP:0011268 16 Feb 2016 Finding Absent trapezium Human Phenotype Ontology C1847190 HP:0004253 16 Feb 2016 Finding Absent trapezoid bone Human Phenotype Ontology C1847191 HP:0006106 16 Feb 2016 Finding Absent upper eyelashes Human Phenotype Ontology C4022462 HP:0040056 16 Feb 2016 Finding Absent urinary urothione Human Phenotype Ontology C4025591 HP:0003606 16 Feb 2016 Finding Absent uvula Human Phenotype Ontology C0266121 HP:0010292 16 Feb 2016 Finding Absent vas deferens Human Phenotype Ontology C0266444 HP:0012873 16 Feb 2016 Finding absent vermis CN238705 19 Oct 2016 Finding Absent vertebra Human Phenotype Ontology C0158776 HP:0008465 04 Apr 2018 Finding Absent vertebral body mineralization Human Phenotype Ontology C1860191 HP:0004605 16 Feb 2016 Finding Absent vestibular function Human Phenotype Ontology C4024656 HP:0008555 16 Feb 2016 Finding Absent/hypoplastic coccyx Human Phenotype Ontology C1856644 HP:0008436 16 Feb 2016 Finding Absent/hypoplastic paranasal sinuses Human Phenotype Ontology C1856639 HP:0005453 16 Feb 2016 Finding Absent/shortened dynein arms Human Phenotype Ontology C4021891 HP:0200106 16 Feb 2016 Finding Absent/shortened outer dynein arms Human Phenotype Ontology C2750161 HP:0200109 16 Feb 2016 Finding Abulia Human Phenotype Ontology C0919974 HP:0012671 16 Feb 2016 Finding Abuse dwarfism syndrome 16 Feb 2016 Disease Acalvaria C2930936 16 Feb 2016 Disease Acampomelic campomelic dysplasia NCBI curation C1861923 16 Feb 2016 Disease Acampomelic campomelic dysplasia with autosomal sex reversal NCBI curation C3549544 22 Jun 2016 Disease Acanthamoeba infection 16 Feb 2016 Disease Acanthamoeba infectious disease MONDO CN281874 MONDO:0021747 04 Jun 2020 Infectious disease Acanthamoeba keratitis MONDO C0000880 MONDO:0005629 04 Jun 2020 Infectious disease Acanthocephaliasis MONDO C0277331 MONDO:0000295 04 Jun 2020 Infectious disease Acanthocytosis Human Phenotype Ontology C0687751 HP:0001927 16 Feb 2016 Finding Acanthocytosis due to band 3 ht NCBI curation C4015904 16 Feb 2016 Disease Acanthocytosis with hypobetalipoproteinemia NCBI curation 16 Feb 2016 Disease Acanthocytosis, one form of NCBI curation 16 Feb 2016 Disease Acanthokeratolytic verrucous nevus MONDO CN271472 MONDO:0019320 22 Apr 2020 Disease Acantholysis Human Phenotype Ontology C0000887 HP:0100792 16 Feb 2016 Finding Acantholytic acanthoma MONDO C1301270 MONDO:0002963 17 Apr 2020 Disease Acantholytic squamous cell skin carcinoma MONDO C0345979 MONDO:0004316 17 Apr 2020 Disease Acantholytic variant squamous cell breast carcinoma MONDO C1519485 MONDO:0004229 17 Apr 2020 Disease Acanthoma Human Phenotype Ontology C0846967 HP:0025432 04 Apr 2018 Disease Acanthosis nigricans Human Phenotype Ontology C0000889 HP:0000956 100600 16 Feb 2016 Disease Acanthosis nigricans with muscle cramps and acral enlargement NCBI curation C1860215 200170 16 Feb 2016 Disease Acardia 16 Feb 2016 Disease Acatalasemia, japanese type NCBI curation C2936847 16 Feb 2016 Disease Acatalasia MONDO C0268419 MONDO:0013571 614097 17 Apr 2020 Disease ACBD5 deficiency MONDO MONDO:0100112 17 Apr 2020 Disease ACC CN238706 19 Oct 2016 Finding Accelerated atherosclerosis Human Phenotype Ontology C1849618 HP:0004943 16 Feb 2016 Finding Accelerated bone age after puberty Human Phenotype Ontology C1860825 HP:0002805 16 Feb 2016 Finding Accelerated skeletal maturation Human Phenotype Ontology C0545053 HP:0005616 16 Feb 2016 Finding Accelerated tumor formation, susceptibility to NCBI curation C3280690 614401 16 Feb 2016 Disease Accentuated Virchow-Robin spaces 23 Jan 2020 Finding Accessory atrioventricular pathways NCBI curation 16 Feb 2016 Disease Accessory carpal bones Human Phenotype Ontology C0265609 HP:0004232 16 Feb 2016 Finding Accessory cranial suture Human Phenotype Ontology C4021067 HP:0012800 16 Feb 2016 Finding Accessory ectopic thyroid tissue Human Phenotype Ontology C4022385 HP:0100030 16 Feb 2016 Finding Accessory eyelid Human Phenotype Ontology C0266576 HP:0430008 16 Feb 2016 Finding Accessory lunate Human Phenotype Ontology C4025392 HP:0004249 16 Feb 2016 Finding Accessory nerve disease MONDO C0152180 MONDO:0002636 17 Apr 2020 Disease Accessory oral frenulum Human Phenotype Ontology C4021814 HP:0000191 16 Feb 2016 Finding Accessory pancreas C0266268 16 Feb 2016 Disease Accessory scaphoid Human Phenotype Ontology C4025396 HP:0004244 16 Feb 2016 Finding Accessory scrotum Human Phenotype Ontology C4022543 HP:0030274 16 Feb 2016 Finding Accessory spleen Human Phenotype Ontology CN001591 HP:0001747 16 Feb 2016 Finding Accessory tricuspid valve tissue MONDO CN227695 MONDO:0019815 17 Apr 2020 Disease accommodative esotropia C0155336 18 Jan 2019 Finding Accommodative spasm MONDO C0152196 MONDO:0001329 17 Apr 2020 Disease Accumulation of melanosomes in melanocytes Human Phenotype Ontology C1843389 HP:0001008 16 Feb 2016 Finding Accumulation of muscle fiber desmin Human Phenotype Ontology C4021043 HP:0030225 16 Feb 2016 Finding Accumulation of muscle fiber myotilin Human Phenotype Ontology C4022571 HP:0030227 16 Feb 2016 Finding Accumulation of muscle fiber valosin-containing protein Human Phenotype Ontology C4022569 HP:0030229 16 Feb 2016 Finding Ace Inhibitors, Plain response - Toxicity/ADR PharmGKB CN236456 1446899729 18 May 2016 Pharmacological response Acellular urinary casts Human Phenotype Ontology C4531282 HP:0031199 04 Apr 2018 Finding acenocoumarol response - Dosage PharmGKB CN236457 981204044 18 May 2016 Pharmacological response acenocoumarol response - Dosage, Toxicity/ADR PharmGKB CN236458 769181841 18 May 2016 Pharmacological response acenocoumarol response - Toxicity/ADR PharmGKB 1449269868PA452632 06 Jul 2018 Pharmacological response Acephalic spermatozoa Human Phenotype Ontology C4022698 HP:0012869 16 Feb 2016 Finding Aceruloplasminemia Human Phenotype Ontology CN911638 HP:0025498 04 Apr 2018 Finding Acetabular dysplasia Human Phenotype Ontology C1328407 HP:0008807 16 Feb 2016 Finding Acetabular spurs Human Phenotype Ontology C3808270 HP:0010454 16 Feb 2016 Finding Acetaminophen metabolism NCBI curation C1863486 100675 16 Feb 2016 Disease Acetaminophen response CN078024 16 Feb 2016 Pharmacological response Acetazolamide-responsive hereditary episodic ataxia MONDO MONDO:0100052 17 Apr 2020 Disease Acetazolamide-responsive myotonia MONDO C4275008 MONDO:0020483 17 Apr 2020 Disease Acetophenetidin sensitivity NCBI curation C1860214 200300 16 Feb 2016 Pharmacological response Acetyl-carnitine deficiency CN035113 16 Feb 2016 Disease Acetyl-CoA acetyltransferase-2 deficiency NCBI curation C0342735 614055 16 Feb 2016 Disease Acetyl-CoA: carboxylase deficiency NCBI curation C0268603 613933 16 Feb 2016 Disease Acetylcholine receptor antibody positivity Human Phenotype Ontology C4022578 HP:0030208 16 Feb 2016 Finding Acetylcholinesterase deficiency C1283397 29 Apr 2016 Disease Achalasia Human Phenotype Ontology C0014848 HP:0002571 16 Feb 2016 Finding Achalasia (disease) MONDO C1860213 MONDO:0008698 200400 17 Apr 2020 Disease Achalasia microcephaly syndrome C1860212 200450 16 Feb 2016 Disease Achard syndrome C1332135 100700 16 Feb 2016 Disease Achard-Thiers syndrome MONDO C0271732 MONDO:0021752 22 Apr 2020 Disease Acheiria, bilateral MONDO MONDO:0017503 17 Apr 2020 Disease Acheiria, unilateral MONDO MONDO:0017502 17 Apr 2020 Disease Acheiropodia C0265559 200500 16 Feb 2016 Disease Achenbach syndrome MONDO MONDO:0006520 17 Apr 2020 Disease Achillean contractures 13 Feb 2020 Finding Achilles bursitis MONDO C0149846 MONDO:0001594 17 Apr 2020 Disease Achilles tendon calcification Human Phenotype Ontology C4476778 HP:0025441 04 Apr 2018 Finding Achilles tendon contracture Human Phenotype Ontology C0410264 HP:0001771 16 Feb 2016 Finding Achilles tendonitis Human Phenotype Ontology C0263933 HP:0025273 02 Apr 2017 Finding Achlorhydria MONDO C0001075 MONDO:0043465 17 Apr 2020 Disease Acholic stools Human Phenotype Ontology C2675627 HP:0011985 16 Feb 2016 Finding Acholinesterasemia NCBI curation 16 Feb 2016 Disease Achondrogenesis OMIM phenotypic series C0001079 PS200600 16 Feb 2016 Disease Achondrogenesis Kozlowski type 16 Feb 2016 Disease Achondrogenesis type 3 16 Feb 2016 Disease Achondrogenesis type 4 16 Feb 2016 Disease Achondrogenesis type II MONDO C0220685 MONDO:0008702 200610 22 Apr 2020 Disease Achondrogenesis, type IA C0265273 200600 16 Feb 2016 Disease Achondrogenesis, type IB C0265274 600972 16 Feb 2016 Disease Achondroplasia C0001080 100800 16 Feb 2016 Disease Achondroplasia and Swiss type agammaglobulinemia C2931087 16 Feb 2016 Disease Achoo syndrome MONDO C1863416 MONDO:0007038 100820 22 Apr 2020 Disease Achromatic retinal patches Human Phenotype Ontology C1860710 HP:0009727 16 Feb 2016 Finding Achromatopsia Human Phenotype Ontology C0152200 HP:0011516 16 Feb 2016 Disease Achromatopsia 10 CN230069 16 Feb 2016 Disease Achromatopsia 2 C1857618 216900 16 Feb 2016 Disease Achromatopsia 3 NCBI curation C1849792 262300 03 May 2020 Disease Achromatopsia 4 NCBI curation C1841721 613856 16 Feb 2016 Disease Achromatopsia 5 NCBI curation C2751309 16 Feb 2016 Disease Achromatopsia 6 NCBI curation C3552227 16 Feb 2016 Disease Achromatopsia 7 NCBI curation C4225297 616517 16 Feb 2016 Disease Achromatopsia 8 CN230070 16 Feb 2016 Disease Achromatopsia 9 CN230071 16 Feb 2016 Disease Achromatopsia incomplete X-linked C2931753 16 Feb 2016 Disease Acid alpha-glucosidase, allele 2 NCBI curation C1847465 16 Feb 2016 Named protein variant Acid alpha-glucosidase, allele 4 NCBI curation 16 Feb 2016 Named protein variant ACID PHOSPHATASE 1, SOLUBLE, A/B POLYMORPHISM OF 16 Feb 2016 Disease Acid phosphatase deficiency C0268410 200950 16 Feb 2016 Disease Acid-labile subunit deficiency NCBI curation C3900122 615961 16 Feb 2016 Disease Acidosis Human Phenotype Ontology C0001122 HP:0001941 16 Feb 2016 Finding Acidosis disorder MONDO MONDO:0006022 17 Apr 2020 Disease Aciduria Human Phenotype Ontology C0278026 HP:0012072 16 Feb 2016 Finding Acinar cell carcinoma MONDO C0206685 MONDO:0004965 17 Apr 2020 Disease Acinar dysplasia 21 Dec 2019 Finding Acinar lung adenocarcinoma MONDO C1332137 MONDO:0003892 17 Apr 2020 Disease Acinar prostate adenocarcinoma, foamy gland variant MONDO C1515863 MONDO:0006066 17 Apr 2020 Disease Acinar prostate adenocarcinoma, signet ring variant MONDO C1335520 MONDO:0002672 17 Apr 2020 Disease Acinar prostate mucinous adenocarcinoma MONDO C1335513 MONDO:0006067 17 Apr 2020 Disease Acinetobacter infectious disease MONDO C0001139 MONDO:0006635 04 Jun 2020 Infectious disease Acinic cell breast carcinoma MONDO C1515868 MONDO:0003624 17 Apr 2020 Disease Acinic cell carcinoma 16 Feb 2016 Disease Acitretin embryopathy 16 Feb 2016 Disease Acitretin/etretinate embryopathy MONDO C4510941 MONDO:0018442 17 Apr 2020 Disease Ackerman syndrome C1860167 200970 16 Feb 2016 Disease Acne Human Phenotype Ontology C0702166 HP:0001061 16 Feb 2016 Finding Acne inversa Human Phenotype Ontology C0162836 HP:0040154 16 Feb 2016 Finding Acne inversa, familial, 2 NCBI curation C3151037 613736 16 Feb 2016 Disease Acne inversa, familial, 3 NCBI curation C3151038 613737 16 Feb 2016 Disease Acne keloid MONDO C0001145 MONDO:0043468 17 Apr 2020 Disease Acne, adult NCBI curation C1858506 604324 16 Feb 2016 Disease Acneiform dermatitis MONDO C0234894 MONDO:0006521 17 Apr 2020 Disease ACO2-related disorder 13 Oct 2017 Disease ACO2-related disorders 13 Oct 2017 Disease Acontractile detrusor NCBI curation C5231389 191800 16 Feb 2016 Disease ACOX1-related condition 05 Oct 2018 Finding Acquired MONDO CN227390 MONDO:0021141 17 Apr 2020 Disease Acquired abnormal hair pattern Human Phenotype Ontology C4023399 HP:0011360 16 Feb 2016 Finding Acquired adrenogenital syndrome MONDO C0237971 MONDO:0045023 17 Apr 2020 Disease Acquired adult-onset immunodeficiency MONDO C5191336 MONDO:0017617 17 Apr 2020 Disease Acquired agranulocytosis 16 Feb 2016 Disease Acquired amyloid peripheral neuropathy MONDO CN229042 MONDO:0016179 17 Apr 2020 Disease Acquired aneurysmal subarachnoid hemorrhage MONDO CN206370 MONDO:0019543 17 Apr 2020 Disease Acquired angioedema C2931758 16 Feb 2016 Disease Acquired angioedema type 1 MONDO CN197348 MONDO:0015056 17 Apr 2020 Disease Acquired angioedema type 2 MONDO CN197347 MONDO:0015055 17 Apr 2020 Disease Acquired angioedema with c1inh deficiency MONDO CN261051 MONDO:0033948 17 Apr 2020 Disease Acquired ataxia MONDO C4302112 MONDO:0016593 17 Apr 2020 Disease acquired auditory processing disorder 05 Sep 2019 Disease Acquired carbohydrate metabolism disease MONDO MONDO:0000224 17 Apr 2020 Disease Acquired carotenemia MONDO MONDO:0004935 17 Apr 2020 Disease Acquired central diabetes insipidus MONDO MONDO:0019846 17 Apr 2020 Disease Acquired chronic primary adrenal insufficiency MONDO CN261174 MONDO:0015130 17 Apr 2020 Disease Acquired coagulation factor deficiency MONDO C0001169 MONDO:0020599 17 Apr 2020 Disease Acquired color blindness MONDO MONDO:0001828 17 Apr 2020 Disease Acquired cutis laxa MONDO C0406549 MONDO:0016446 17 Apr 2020 Disease Acquired cystic disease-associated renal cell carcinoma MONDO C4707179 MONDO:0018449 17 Apr 2020 Disease Acquired deficiency anemia MONDO CN226976 MONDO:0016625 17 Apr 2020 Disease acquired deformities of musculoskeletal system 05 Sep 2019 Finding acquired deformities of the foot 05 Sep 2019 Finding Acquired dermis elastic tissue disorder MONDO CN226927 MONDO:0016434 17 Apr 2020 Disease Acquired dermis elastic tissue disorder with decreased elastic tissue MONDO CN226928 MONDO:0016435 17 Apr 2020 Disease Acquired dermis elastic tissue disorder with increased elastic tissue MONDO CN226929 MONDO:0016436 17 Apr 2020 Disease Acquired epidermolysis bullosa C0079293 16 Feb 2016 Disease Acquired factor VIII deficiency disease C0272325 16 Feb 2016 Disease Acquired factor X deficiency MONDO C0272328 MONDO:0021134 17 Apr 2020 Disease Acquired factor XIII deficiency MONDO C0238120 MONDO:0021133 17 Apr 2020 Disease Acquired Fanconi syndrome MONDO C0341702 MONDO:0060779 17 Apr 2020 Disease Acquired fructose intolerance 16 Feb 2016 Disease Acquired hemangioma MONDO C0856897 MONDO:0003206 17 Apr 2020 Disease Acquired hemoglobin H disease NCBI curation C0585216 300448 16 Feb 2016 Disease Acquired hemoglobinopathy MONDO C1263995 MONDO:0044349 17 Apr 2020 Disease acquired hemolytic anemias 14 Mar 2019 Finding Acquired hemophagocytic lymphohistiocytosis associated with malignant disease MONDO C5190710 MONDO:0015544 17 Apr 2020 Disease Acquired hemophilia C1096116 16 Feb 2016 Disease Acquired hyperprolactinemia MONDO MONDO:0024305 17 Apr 2020 Disease Acquired hypertrichosis lanuginosa MONDO C0343072 MONDO:0016380 22 Apr 2020 Disease Acquired hypertrophic pyloric stenosis MONDO C2937286 MONDO:0001878 17 Apr 2020 Disease Acquired hypoprothrombinemia NCBI curation C0392610 16 Feb 2016 Disease Acquired ichthyosis MONDO C0263386 MONDO:0018683 22 Apr 2020 Disease Acquired idiopathic torsion dystonia MONDO MONDO:0044817 17 Apr 2020 Disease Acquired immunodeficiency syndrome, delayed progression to NCBI curation C4016730 16 Feb 2016 Disease Acquired immunodeficiency syndrome, progression to NCBI curation 16 Feb 2016 Disease Acquired immunodeficiency syndrome, rapid progression to NCBI curation C4016227 16 Feb 2016 Disease Acquired immunodeficiency syndrome, slow progression to NCBI curation C1840084 16 Feb 2016 Disease Acquired keratosis MONDO MONDO:0006522 17 Apr 2020 Disease Acquired kinky hair syndrome MONDO CN204889 MONDO:0018302 17 Apr 2020 Disease Acquired lactic acidosis MONDO MONDO:0024306 17 Apr 2020 Disease Acquired lipodystrophy MONDO C0877192 MONDO:0020089 17 Apr 2020 Disease Acquired long QT syndrome NCBI curation C2732979 16 Feb 2016 Disease Acquired metabolic disease MONDO MONDO:0006504 17 Apr 2020 Disease Acquired mineral metabolism disease MONDO MONDO:0024301 17 Apr 2020 Disease Acquired mitochondrial DNA abnormalities in various tissues 29 Sep 2017 Finding Acquired monoclonal Ig light chain-associated Fanconi syndrome MONDO C4510369 MONDO:0019604 17 Apr 2020 Disease Acquired motor neuron disease MONDO CN207019 MONDO:0020129 17 Apr 2020 Disease Acquired neuromuscular junction disease MONDO CN207015 MONDO:0020125 17 Apr 2020 Disease Acquired neutropenia MONDO C4543729 MONDO:0015822 17 Apr 2020 Disease Acquired night blindness MONDO MONDO:0001296 17 Apr 2020 Disease Acquired partial lipodystrophy C0220989 608709 16 Feb 2016 Disease Acquired peripheral movement disorder MONDO CN226913 MONDO:0016375 17 Apr 2020 Disease Acquired peripheral neuropathy MONDO CN228995 MONDO:0015923 17 Apr 2020 Disease Acquired pituitary hormone deficiency MONDO CN229229 MONDO:0019832 17 Apr 2020 Disease Acquired polycythemia MONDO MONDO:0002438 17 Apr 2020 Disease Acquired porencephaly MONDO C4082172 MONDO:0017815 17 Apr 2020 Disease Acquired primary ovarian failure MONDO CN275341 MONDO:0019851 17 Apr 2020 Disease Acquired protein S deficiency NCBI curation 16 Feb 2016 Disease Acquired pseudoxanthoma elasticum MONDO C1274759 MONDO:0016441 17 Apr 2020 Disease Acquired purpura fulminans MONDO C4510896 MONDO:0018854 17 Apr 2020 Disease Acquired rippling muscle disease MONDO MONDO:0021142 17 Apr 2020 Disease Acquired schizencephaly MONDO CN776925 MONDO:0018839 17 Apr 2020 Disease Acquired secondary polycythemia MONDO CN226954 MONDO:0016541 17 Apr 2020 Disease Acquired sensory ganglionopathy MONDO CN229037 MONDO:0016172 17 Apr 2020 Disease Acquired skeletal muscle disease MONDO CN200878 MONDO:0016105 17 Apr 2020 Disease Acquired susceptibility to long QT syndrome 1 NCBI curation C1843738 16 Feb 2016 Disease Acquired tear duct stenosis MONDO MONDO:0001769 17 Apr 2020 Disease Acquired testicular failure MONDO C0403818 MONDO:0023554 17 Apr 2020 Disease Acquired thrombocytopenia MONDO C0154301 MONDO:0001198 17 Apr 2020 Disease Acquired thrombotic thrombocytopenic purpura MONDO C2584778 MONDO:0019740 22 Apr 2020 Disease Acquired torsion dystonia MONDO C1719382 MONDO:0044870 17 Apr 2020 Disease Acquired von willebrand syndrome MONDO C0272362 MONDO:0020460 17 Apr 2020 Disease Acquired xanthinuria MONDO MONDO:0021180 17 Apr 2020 Disease Acral blistering Human Phenotype Ontology C4476927 HP:0031045 04 Apr 2018 Finding Acral dysostosis dyserythropoiesis syndrome 16 Feb 2016 Disease Acral dystrophic epidermolysis bullosa MONDO C4518087 MONDO:0015552 17 Apr 2020 Disease Acral lentiginous melanoma (disease) MONDO C0346037 MONDO:0003865 17 Apr 2020 Disease Acral persistent papular mucinosis MONDO C0406660 MONDO:0019581 17 Apr 2020 Disease Acral self-healing collodion baby MONDO C4305324 MONDO:0017268 17 Apr 2020 Disease Acral ulceration and osteomyelitis leading to autoamputation of digits Human Phenotype Ontology C1837603 HP:0001226 16 Feb 2016 Finding Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) Human Phenotype Ontology HP:0001862 16 Feb 2016 Finding Acral ulceration leading to autoamputation of digits Human Phenotype Ontology C4732740 HP:0006121 16 Feb 2016 Finding Acrania Human Phenotype Ontology C0702169 HP:0030716 02 Apr 2017 Finding Acro coxo mesomelic dysplasia 16 Feb 2016 Disease Acro-dermato-ungual-lacrimal-tooth (adult) syndrome NCBI curation CN243969 20 Jun 2017 Disease Acro-pectoro-renal field defect 16 Feb 2016 Disease Acro-renal-mandibular syndrome MONDO C1860166 MONDO:0008707 200980 17 Apr 2020 Disease Acrobrachycephaly Human Phenotype Ontology C1863395 HP:0004487 16 Feb 2016 Finding Acrocallosal syndrome MONDO C0796147 MONDO:0008708 200990 22 Apr 2020 Disease Acrocapitofemoral dysplasia C1843096 607778 16 Feb 2016 Disease Acrocephalopolydactylous dysplasia C1860157 200995 16 Feb 2016 Disease Acrocephalopolydactyly 16 Feb 2016 Disease Acrocephalopolysyndactyly MONDO C0687154 MONDO:0000078 17 Apr 2020 Disease Acrocephalopolysyndactyly type III C1275079 101120 16 Feb 2016 Disease Acrocephalosyndactyly NCBI curation C1510455 04 Aug 2016 Disease Acrocephalosyndactyly type I NCBI curation C0001193 101200 16 Feb 2016 Disease Acrocephalosyndactyly type II NCBI curation C1863389 16 Feb 2016 Disease Acrocephalosyndactyly type V C0265303 201020 16 Feb 2016 Disease Acrocephaly pulmonary stenosis mental retardation 16 Feb 2016 Disease Acrocoxomesomelic dysplasia MONDO MONDO:0021762 17 Apr 2020 Disease Acrocraniofacial dysostosis MONDO C1860145 MONDO:0008712 201050 17 Apr 2020 Disease Acrocyanosis Human Phenotype Ontology C0221347 HP:0001063 16 Feb 2016 Finding Acrodermatitis C0001197 16 Feb 2016 Disease Acrodermatitis chronica atrophicans MONDO C0263421 MONDO:0006524 17 Apr 2020 Disease Acrodermatitis continua suppurativa of Hallopeau MONDO C0392439 MONDO:0015598 17 Apr 2020 Disease Acrodysostosis OMIM phenotypic series C0220659 PS101800 16 Feb 2016 Disease Acrodysostosis 1 with or without hormone resistance NCBI curation C3276228 101800 16 Feb 2016 Disease Acrodysostosis 2, with or without hormone resistance NCBI curation C3553250 614613 16 Feb 2016 Disease Acrodysostosis with multiple hormone resistance MONDO CN202748 MONDO:0017240 17 Apr 2020 Disease Acrodysplasia scoliosis 16 Feb 2016 Disease Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia MONDO C1863556 MONDO:0011367 603740 22 Apr 2020 Disease Acroerythrokeratoderma C0025221 248300 16 Feb 2016 Disease Acrofacial dysostosis MONDO C1332140 MONDO:0018237 17 Apr 2020 Disease Acrofacial dysostosis ambiguous genitalia 16 Feb 2016 Disease Acrofacial dysostosis atypical postaxial 16 Feb 2016 Disease Acrofacial dysostosis Preis type 16 Feb 2016 Disease Acrofacial dysostosis Rodriguez type C1860119 201170 16 Feb 2016 Disease Acrofacial dysostosis, catania type NCBI curation C2931762 101805 16 Feb 2016 Disease Acrofacial dysostosis, Cincinnati type NCBI curation C4225317 616462 16 Feb 2016 Disease Acrofacial dysostosis, Kennedy-Teebi type MONDO C4304094 MONDO:0018980 17 Apr 2020 Disease Acrofacial dysostosis, Palagonia type MONDO C1866168 MONDO:0011154 601829 22 Apr 2020 Disease Acrofrontofacionasal dysostosis MONDO C4551987 MONDO:0008715 201180 17 Apr 2020 Disease Acrokerato-elastoidosis C0545044 101850 16 Feb 2016 Disease Acrokeratoderma MONDO CN261647 MONDO:0019271 17 Apr 2020 Disease Acrokeratoderma, hereditary papulotranslucent NCBI curation C1863343 101840 16 Feb 2016 Disease Acrokeratosis Human Phenotype Ontology C0001202 HP:0200016 16 Feb 2016 Finding Acrokeratosis verruciformis of Hopf C0265971 101900 16 Feb 2016 Disease Acroleukopathy, symmetric NCBI curation C1863342 102000 16 Feb 2016 Disease Acromegaloid facial appearance syndrome C0796280 102150 16 Feb 2016 Disease Acromegaloid features, overgrowth, cleft palate, and hernia MONDO C1853757 MONDO:0011626 606049 22 Apr 2020 Disease Acromegaloid hypertrichosis syndrome 16 Feb 2016 Disease Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma C1321495 102100 16 Feb 2016 Disease Acromegaly 16 Feb 2016 Disease Acromegaly, predisposition to, due to germline GPR101 mutation CN235218 19 Feb 2016 Disease Acromelanosis C0406779 16 Feb 2016 Disease Acromelia Human Phenotype Ontology C4023675 HP:0010884 16 Feb 2016 Finding Acromelia of the lower limbs Human Phenotype Ontology C4023805 HP:0010494 16 Feb 2016 Finding Acromelia of the upper limbs Human Phenotype Ontology C4023810 HP:0010482 16 Feb 2016 Finding Acromelic dysplasia MONDO CN229206 MONDO:0019695 17 Apr 2020 Disease Acromelic frontonasal dysostosis C1863616 603671 16 Feb 2016 Disease Acromesomelia Human Phenotype Ontology C1864365 HP:0003086 16 Feb 2016 Finding Acromesomelic Dysplasia 02 Dec 2016 Disease Acromesomelic dysplasia, Campailla Martinelli type MONDO C2930969 MONDO:0021805 22 Apr 2020 Disease Acromesomelic dysplasia, Demirhan type NCBI curation C4225404 609441 24 Dec 2017 Disease Acromesomelic dysplasia, Hunter-Thompson type MONDO C2930970 MONDO:0008717 201250 22 Apr 2020 Disease Acromesomelic dysplasia, Maroteaux type MONDO C1864356 MONDO:0011275 602875 22 Apr 2020 Disease Acromial dimples NCBI curation C1863321 102350 16 Feb 2016 Disease Acromicric dysplasia NCBI curation C0265287 102370 16 Feb 2016 Disease Acroosteolysis Human Phenotype Ontology C0917990 HP:0009771 102400 10 Apr 2018 Disease Acroosteolysis dominant type 16 Feb 2016 Disease Acroosteolysis of distal phalanges (feet) Human Phenotype Ontology C4025739 HP:0001870 16 Feb 2016 Finding Acroparesthesia Human Phenotype Ontology C0234221 HP:0031006 04 Apr 2018 Finding Acropectoral syndrome C1853812 605967 16 Feb 2016 Disease Acropectororenal dysplasia MONDO CN273068 MONDO:0019840 17 Apr 2020 Disease Acropectorovertebral dysplasia MONDO C1863307 MONDO:0007058 102510 17 Apr 2020 Disease Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes C0342280 207780 16 Feb 2016 Disease Acrorenal syndrome NCBI curation C3495490 102520 14 May 2018 Disease Acrorenal syndrome, autosomal recessive NCBI curation C0796290 201310 16 Feb 2016 Disease Acrospiroma 16 Feb 2016 Disease ACTA1 gene related myopathy 14 Feb 2019 Disease ACTA2-Related Disorders 23 May 2019 Disease ACTG2-Related Disorder 29 Aug 2019 Disease ACTH resistance NCBI curation C4049650 202200 16 Feb 2016 Disease ACTH-dependent Cushing syndrome MONDO C0342442 MONDO:0020528 17 Apr 2020 Disease ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor MONDO CN237670 MONDO:0018627 17 Apr 2020 Disease Acth-independent macronodular adrenal hyperplasia 2 NCBI curation C4014803 615954 16 Feb 2016 Disease ACTH-producing pituitary gland adenoma MONDO MONDO:0006068 17 Apr 2020 Disease ACTH-producing pituitary gland carcinoma MONDO C1334556 MONDO:0006069 17 Apr 2020 Disease ACTH-producing pituitary gland neoplasm MONDO C0278862 MONDO:0045058 17 Apr 2020 Disease Actinic cheilitis C0267026 16 Feb 2016 Disease Actinic keratosis Human Phenotype Ontology C0022602 HP:0025127 02 Apr 2017 Finding Actinic keratosis (disease) MONDO MONDO:0005173 17 Apr 2020 Disease Actinic lichen planus MONDO C0406365 MONDO:0016770 17 Apr 2020 Disease Actinic prurigo C0406217 174770 16 Feb 2016 Disease ACTININ, ALPHA-3 POLYMORPHISM 16 Feb 2016 Disease Actinobacillosis MONDO C0001247 MONDO:0005630 04 Jun 2020 Infectious disease Actinobacillus infectious disease MONDO CN281810 MONDO:0006636 04 Jun 2020 Infectious disease Actinomycetales infectious disease MONDO C0001255 MONDO:0006921 04 Jun 2020 Infectious disease Actinomycotic infection NCBI curation C0001261 16 Feb 2016 Infectious disease Actinopathy MONDO MONDO:0100084 17 Apr 2020 Disease Action tremor Human Phenotype Ontology C0234376 HP:0002345 16 Feb 2016 Finding Activated partial thromboplastin time, variation in NCBI curation 16 Feb 2016 Disease Activating thyroid-stimulating hormone receptor defect Human Phenotype Ontology C4023188 HP:0011790 02 Apr 2017 Finding Active cochlear Meniere disease MONDO C0155497 MONDO:0001729 17 Apr 2020 Disease Active cochleovestibular Meniere disease MONDO C0155496 MONDO:0001727 17 Apr 2020 Disease Active peptic ulcer disease MONDO MONDO:0004242 17 Apr 2020 Disease Active vestibular Meniere disease MONDO C0155498 MONDO:0001728 17 Apr 2020 Disease ACTL6B-related dominant intellectual disability 29 Mar 2020 Finding ACTL6B-related neurodevelopmental disorder 09 Jan 2019 Disease ACTL6B-related recessive epilepsy 29 Mar 2020 Finding ACTN3 deficiency NCBI curation C3888204 617749 06 Mar 2016 Disease Aculeiform cataract C1861832 16 Feb 2016 Disease Acute ackee fruit intoxication MONDO MONDO:0019140 17 Apr 2020 Disease Acute adrenal insufficiency MONDO C0151467 MONDO:0019801 17 Apr 2020 Disease Acute alcohol sensitivity NCBI curation C2674838 610251 16 Feb 2016 Disease Acute allergic mucoid otitis media MONDO C0155419 MONDO:0004864 17 Apr 2020 Disease Acute allergic sanguinous otitis media MONDO C0155420 MONDO:0002757 17 Apr 2020 Disease Acute allergic serous otitis media MONDO C0155418 MONDO:0001313 17 Apr 2020 Disease Acute and subacute inflammatory demyelinating polyneuropathy MONDO CN229029 MONDO:0016137 17 Apr 2020 Disease Acute annular outer retinopathy MONDO C5191002 MONDO:0017299 17 Apr 2020 Disease Acute anterior uveitis NCBI curation C0701807 16 Feb 2016 Disease Acute anterolateral myocardial infarction MONDO C0155627 MONDO:0001090 17 Apr 2020 Disease Acute aortic dissection NCBI curation C0241868 08 Mar 2019 Disease Acute apical periodontitis MONDO C4084770 MONDO:0001338 17 Apr 2020 Disease Acute articular rheumatism 16 Feb 2016 Disease Acute aspiration pneumonia Human Phenotype Ontology C4023111 HP:0011952 16 Feb 2016 Finding Acute basophilic leukemia MONDO C0023437 MONDO:0019458 17 Apr 2020 Disease Acute biphenotypic leukemia MONDO CN280975 MONDO:0020322 03 Jun 2020 Disease Acute bronchiolitis MONDO C0001311 MONDO:0020680 17 Apr 2020 Disease Acute bronchitis Human Phenotype Ontology C0149514 HP:0012388 16 Feb 2016 Finding acute bronchitis and bronchiolitis 14 Mar 2019 Finding Acute canaliculitis MONDO C0339130 MONDO:0004054 17 Apr 2020 Disease Acute cervicitis MONDO C0269061 MONDO:0001081 17 Apr 2020 Disease Acute chest syndrome MONDO C0742343 MONDO:0005632 17 Apr 2020 Disease Acute cholangitis MONDO C0267917 MONDO:0001930 17 Apr 2020 Disease Acute cholecystitis MONDO C0149520 MONDO:0043994 17 Apr 2020 Disease Acute cholinergic dysautonomia C2930973 16 Feb 2016 Disease Acute closed-angle glaucoma MONDO C0154946 MONDO:0001817 17 Apr 2020 Disease Acute colitis Human Phenotype Ontology C2118460 HP:0100282 16 Feb 2016 Finding Acute conjunctivitis MONDO C0155141 MONDO:0001214 17 Apr 2020 Disease Acute constipation Human Phenotype Ontology C0401148 HP:0012451 16 Feb 2016 Finding Acute contagious conjunctivitis MONDO C1313983 MONDO:0001226 17 Apr 2020 Disease Acute cor pulmonale MONDO C0155672 MONDO:0004598 17 Apr 2020 Disease Acute coronary syndrome PharmGKB C0948089 18 May 2016 Disease Acute coronary syndrome;Cardiovascular Diseases PharmGKB 17 Feb 2017 Disease Acute coronary syndrome;Cardiovascular Diseases;Thrombosis PharmGKB 17 Feb 2017 Disease Acute coronary syndrome;Coronary Artery Disease PharmGKB 17 Feb 2017 Disease Acute coronary syndrome;Coronary Artery Disease;Myocardial Infarction PharmGKB 17 Feb 2017 Disease Acute cystitis (disease) MONDO C0149523 MONDO:0001650 04 Jun 2020 Infectious disease Acute dacryoadenitis MONDO C0149505 MONDO:0004812 17 Apr 2020 Disease Acute dacryocystitis MONDO C0155237 MONDO:0001610 17 Apr 2020 Disease Acute demyelinating polyneuropathy Human Phenotype Ontology C4024933 HP:0007131 16 Feb 2016 Finding Acute deterioration with shock, coma, central apnea and ophthalmoparesis, after proctated vomiting CN235369 02 Mar 2016 Finding Acute diarrhea MONDO C0740441 MONDO:0000257 17 Apr 2020 Disease Acute diffuse glomerulonephritis MONDO C0341689 MONDO:0001871 17 Apr 2020 Disease Acute disease MONDO C0001314 MONDO:0020683 17 Apr 2020 Disease Acute disseminated encephalomyelitis C0014059 16 Feb 2016 Infectious disease Acute disseminated intravascular coagulation Human Phenotype Ontology C4023149 HP:0011880 16 Feb 2016 Finding Acute encephalopathy Human Phenotype Ontology C1306587 HP:0006846 16 Feb 2016 Finding Acute encephalopathy with biphasic seizures and late reduced diffusion MONDO C4707658 MONDO:0018198 17 Apr 2020 Disease Acute encephalopathy with inflammation-mediated status epilepticus MONDO MONDO:0018200 17 Apr 2020 Disease Acute endometritis MONDO C0238103 MONDO:0004265 17 Apr 2020 Disease Acute endophthalmitis MONDO C0154773 MONDO:0017202 04 Jun 2020 Infectious disease Acute epiglottitis MONDO C0155814 MONDO:0041366 17 Apr 2020 Disease Acute episodes of neuropathic symptoms Human Phenotype Ontology C1867971 HP:0003489 16 Feb 2016 Finding Acute erythroblastic leukemia 16 Feb 2016 Disease Acute esophageal necrosis Human Phenotype Ontology C4023524 HP:0011128 16 Feb 2016 Finding Acute ethmoiditis MONDO C0155806 MONDO:0004810 17 Apr 2020 Disease Acute eustachian salpingitis MONDO C0155429 MONDO:0001064 17 Apr 2020 Disease Acute fatty liver of pregnancy C1455728 16 Feb 2016 Disease Acute febrile mucocutaneous lymph node syndrome C0026691 611775 16 Feb 2016 Disease Acute febrile neutrophilic dermatosis C0085077 608068 16 Feb 2016 Disease Acute female pelvic peritonitis MONDO C0269032 MONDO:0004940 17 Apr 2020 Disease Acute flaccid myelitis MONDO C4290000 MONDO:0100115 17 Apr 2020 Disease Acute frontal sinusitis MONDO C0155805 MONDO:0001912 17 Apr 2020 Disease Acute generalized exanthematous pustulosis MONDO C0877055 MONDO:0017384 17 Apr 2020 Disease Acute gonococcal cervicitis MONDO C0153195 MONDO:0001080 04 Jun 2020 Infectious disease Acute gonococcal cystitis MONDO C0153191 MONDO:0001777 04 Jun 2020 Infectious disease Acute gonococcal endometritis MONDO C0153196 MONDO:0004264 17 Apr 2020 Disease Acute gonococcal epididymo-orchitis MONDO C0153193 MONDO:0001125 04 Jun 2020 Infectious disease Acute gonococcal prostatitis MONDO C0153192 MONDO:0001838 04 Jun 2020 Infectious disease Acute gonococcal salpingitis MONDO C0275654 MONDO:0001837 04 Jun 2020 Infectious disease Acute graft versus host disease MONDO C0856825 MONDO:0020546 17 Apr 2020 Disease Acute graft vs. host disease MONDO MONDO:0005410 17 Apr 2020 Disease Acute hemorrhagic conjunctivitis MONDO C0009765 MONDO:0005634 04 Jun 2020 Infectious disease Acute hemorrhagic encephalitis MONDO C1332149 MONDO:0003337 04 Jun 2020 Infectious disease Acute hemorrhagic leukoencephalitis C0014077 606752 16 Feb 2016 Disease Acute hepatic failure NCBI curation C0162557 16 Feb 2016 Disease Acute hepatic steatosis Human Phenotype Ontology C4025020 HP:0006573 16 Feb 2016 Finding Acute hepatitis Human Phenotype Ontology C0267797 HP:0200119 16 Feb 2016 Finding Acute hydrops keratoconus MONDO C0339286 MONDO:0000943 17 Apr 2020 Disease Acute hyperammonemia Human Phenotype Ontology C1859506 HP:0008281 16 Feb 2016 Finding Acute hypotension MONDO MONDO:0005174 17 Apr 2020 Disease Acute idiopathic urticaria MONDO C0578869 MONDO:0044213 17 Apr 2020 Disease Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO C3278664 MONDO:0013111 613070 17 Apr 2020 Disease Acute infantile spinal muscular atrophy Human Phenotype Ontology C4024911 HP:0007280 16 Feb 2016 Finding Acute infection of pinna MONDO C0155392 MONDO:0001053 04 Jun 2020 Infectious disease Acute infectious pneumonia Human Phenotype Ontology C4023112 HP:0011949 16 Feb 2016 Finding Acute inferolateral myocardial infarction MONDO C0340308 MONDO:0001089 17 Apr 2020 Disease Acute inferoposterior infarction MONDO C0340304 MONDO:0001088 17 Apr 2020 Disease Acute inflammation of lacrimal passage MONDO C0339129 MONDO:0004055 17 Apr 2020 Disease Acute insulin response NCBI curation C1866503 601676 16 Feb 2016 Disease Acute intermittent porphyria C0162565 176000 16 Feb 2016 Disease Acute interstitial pneumonia MONDO C1279945 MONDO:0019203 04 Jun 2020 Infectious disease Acute intestinal ischemia MONDO C0001363 MONDO:0004613 17 Apr 2020 Disease Acute kidney injury Human Phenotype Ontology C2609414 HP:0001919 16 Feb 2016 Finding Acute laryngitis MONDO C0001327 MONDO:0004777 17 Apr 2020 Disease Acute laryngopharyngitis MONDO C0155817 MONDO:0001218 17 Apr 2020 Disease Acute leukemia Human Phenotype Ontology C0085669 HP:0002488 16 Feb 2016 Finding Acute leukemia of ambiguous lineage NCBI curation C1301357 21 Nov 2018 Disease Acute lichenoid pityriasis MONDO MONDO:0024250 17 Apr 2020 Disease acute lower respiratory tract infection C0238990 18 Jan 2019 Finding Acute lymphoblastic leukemia Human Phenotype Ontology CN005851 HP:0006721 16 Feb 2016 Finding Acute lymphoblastic leukemia congenital sporadic aniridia 16 Feb 2016 Disease Acute lymphoid leukemia NCBI curation C0023449 613065 22 Sep 2016 Disease Acute macular neuroretinopathy MONDO C5200735 MONDO:0044627 17 Apr 2020 Disease Acute maxillary sinusitis MONDO C0155804 MONDO:0002186 17 Apr 2020 Disease Acute megakaryoblastic leukemia NCBI curation C0023462 16 Feb 2016 Disease Acute megakaryoblastic leukemia in down syndrome MONDO CN207426 MONDO:0020526 17 Apr 2020 Disease Acute megakaryoblastic leukemia without down syndrome MONDO CN204216 MONDO:0018004 17 Apr 2020 Disease Acute megakaryocytic leukemia Human Phenotype Ontology CN005861 HP:0006733 16 Feb 2016 Finding Acute monoblastic leukemia NCBI curation C0457334 15 Mar 2019 Disease Acute monocytic leukemia Human Phenotype Ontology C0023465 HP:0004845 16 Feb 2016 Finding Acute motor and sensory axonal neuropathy MONDO C3900111 MONDO:0020348 17 Apr 2020 Disease Acute motor axonal neuropathy MONDO C3890941 MONDO:0020349 17 Apr 2020 Disease Acute myeloblastic leukemia type 1 16 Feb 2016 Disease Acute myeloblastic leukemia type 2 16 Feb 2016 Disease Acute myeloblastic leukemia type 3 16 Feb 2016 Disease Acute myeloblastic leukemia type 4 16 Feb 2016 Disease Acute myeloblastic leukemia type 5 16 Feb 2016 Disease Acute myeloblastic leukemia type 6 16 Feb 2016 Disease Acute myeloblastic leukemia type 7 16 Feb 2016 Disease Acute myeloblastic leukemia without maturation C0026998 16 Feb 2016 Disease Acute myeloid leukemia Orphanet C0023467 ORPHA519 601626 16 Feb 2016 Disease Acute myeloid leukemia Human Phenotype Ontology C0023467 HP:0004808 601626 16 Feb 2016 Disease Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent MONDO CN197504 MONDO:0015164 17 Apr 2020 Disease Acute myeloid leukemia and myelodysplastic syndromes related to radiation MONDO CN199981 MONDO:0015608 17 Apr 2020 Disease Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor MONDO CN197505 MONDO:0015165 17 Apr 2020 Disease Acute myeloid leukemia with 11q23 abnormalities MONDO C1292775 MONDO:0020317 17 Apr 2020 Disease Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) MONDO MONDO:0020316 17 Apr 2020 Disease Acute myeloid leukemia with CEBPA somatic mutations MONDO C4707178 MONDO:0017894 17 Apr 2020 Disease Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) MONDO MONDO:0018435 17 Apr 2020 Disease Acute myeloid leukemia with maturation NCBI curation C1879321 08 Jun 2017 Disease Acute myeloid leukemia with minimal differentiation MONDO C0522631 MONDO:0005223 17 Apr 2020 Disease Acute Myeloid Leukemia with Multilineage Dysplasia C1292773 01 Feb 2020 Disease Acute myeloid leukemia with mutated CEBPA MONDO C2826178 MONDO:0044924 17 Apr 2020 Disease Acute myeloid leukemia with mutated NPM1 MONDO C2826177 MONDO:0044923 17 Apr 2020 Disease Acute myeloid leukemia with NPM1 somatic mutations MONDO MONDO:0018437 17 Apr 2020 Disease Acute myeloid leukemia with recurrent genetic anomaly MONDO C1275661 MONDO:0020078 17 Apr 2020 Disease Acute myeloid leukemia with t(6;9)(p23;q34) MONDO MONDO:0018433 17 Apr 2020 Disease Acute myeloid leukemia with t(8;16)(p11;p13) translocation MONDO C4511003 MONDO:0018256 17 Apr 2020 Disease Acute myeloid leukemia with t(8;21)(q22;q22) translocation MONDO MONDO:0015166 17 Apr 2020 Disease Acute myeloid leukemia with t(9;11)(p22;q23) MONDO MONDO:0018434 17 Apr 2020 Disease Acute myeloid leukemia, M6 type NCBI curation C4746575 133180 16 Feb 2016 Disease Acute myelomonocytic leukemia M4 MONDO C0023479 MONDO:0018871 151380 17 Apr 2020 Disease Acute myocardial infarction MONDO C0155626 MONDO:0004781 17 Apr 2020 Disease Acute myocarditis MONDO C0155686 MONDO:0002815 17 Apr 2020 Disease Acute necrotizing encephalitis MONDO C0338418 MONDO:0003336 04 Jun 2020 Infectious disease Acute necrotizing encephalopathy Human Phenotype Ontology C1855020 HP:0006965 16 Feb 2016 Finding Acute necrotizing encephalopathy of childhood MONDO C4706387 MONDO:0016991 04 Jun 2020 Infectious disease Acute neonatal citrullinemia type I MONDO CN201793 MONDO:0016600 17 Apr 2020 Disease Acute neuronopathic Gaucher's disease NCBI curation C0268250 230900 16 Feb 2016 Disease Acute non lymphoblastic leukemia 16 Feb 2016 Disease Acute nonparalytic poliomyelitis MONDO C0152998 MONDO:0003231 04 Jun 2020 Infectious disease Acute opioid poisoning MONDO CN227277 MONDO:0018173 17 Apr 2020 Disease Acute orbital inflammation MONDO MONDO:0001230 17 Apr 2020 Disease Acute otitis externa MONDO C0149948 MONDO:0001051 04 Jun 2020 Infectious disease Acute otitis media Human Phenotype Ontology C0271429 HP:0000371 16 Feb 2016 Finding Acute pancreatitis Human Phenotype Ontology C0001339 HP:0001735 16 Feb 2016 Finding Acute pandysautonomia MONDO C2315246 MONDO:0016499 17 Apr 2020 Disease Acute panmyelosis with myelofibrosis MONDO C0334674 MONDO:0019455 17 Apr 2020 Disease Acute papillary necrosis MONDO C0403468 MONDO:0041295 17 Apr 2020 Disease Acute pericementitis MONDO C0001342 MONDO:0001028 17 Apr 2020 Disease Acute perichondritis of pinna MONDO C0155390 MONDO:0002240 04 Jun 2020 Infectious disease Acute pharyngitis MONDO C0001344 MONDO:0020600 17 Apr 2020 Disease Acute poisoning by drugs with membrane-stabilizing effect MONDO CN227538 MONDO:0018548 17 Apr 2020 Disease Acute Porphyria NCBI curation CN552491 13 Oct 2017 Disease Acute posterior multifocal placoid pigment epitheliopathy C0154884 16 Feb 2016 Disease Acute poststreptococcal glomerulonephritis MONDO C0403414 MONDO:0001870 17 Apr 2020 Disease Acute proliferative glomerulonephritis MONDO C0341692 MONDO:0001644 17 Apr 2020 Disease Acute promyelocytic leukemia Human Phenotype Ontology C0023487 HP:0004836 612376 16 Feb 2016 Disease Acute pulmonary heart disease MONDO C0155671 MONDO:0004595 17 Apr 2020 Disease Acute pure sensory neuropathy MONDO C5190881 MONDO:0016498 17 Apr 2020 Disease Acute pyelonephritis MONDO C0520575 MONDO:0003529 04 Jun 2020 Infectious disease Acute quadriplegic myopathy MONDO MONDO:0004969 17 Apr 2020 Disease Acute Recurrent Myoglobinuria CN239190 02 Dec 2016 Disease Acute recurrent pancreatitis NCBI curation C0267937 16 Feb 2016 Disease Acute respiratory acidosis Human Phenotype Ontology C0268047 HP:0012467 16 Feb 2016 Finding Acute respiratory distress C0748355 18 Jan 2019 Finding Acute respiratory distress syndrome 16 Feb 2016 Disease Acute respiratory failure MONDO C0264490 MONDO:0001208 17 Apr 2020 Disease Acute respiratory tract infection Human Phenotype Ontology C1442786 HP:0011948 16 Feb 2016 Finding Acute retinal necrosis syndrome MONDO C0035319 MONDO:0006638 17 Apr 2020 Disease Acute retrobulbar neuritis MONDO C0155301 MONDO:0001895 17 Apr 2020 Disease Acute rhabdomyolysis Human Phenotype Ontology C3807306 HP:0008942 16 Feb 2016 Finding Acute rheumatic heart disease MONDO C0035440 MONDO:0021777 17 Apr 2020 Disease Acute salpingitis MONDO C0269038 MONDO:0001173 17 Apr 2020 Disease Acute salpingo-oophoritis MONDO C0156327 MONDO:0001171 17 Apr 2020 Disease Acute sanguinous otitis media MONDO C0395865 MONDO:0002737 17 Apr 2020 Disease Acute sensory ataxic neuropathy MONDO C4707661 MONDO:0016500 17 Apr 2020 Disease Acute serous otitis media MONDO C0155415 MONDO:0001312 17 Apr 2020 Disease Acute sinusitis Human Phenotype Ontology C0149512 HP:0000255 16 Feb 2016 Finding Acute sphenoidal sinusitis MONDO C0155807 MONDO:0001624 17 Apr 2020 Disease Acute stress disorder MONDO C0236816 MONDO:0003763 17 Apr 2020 Disease Acute subendocardial myocardial infarction MONDO C0264710 MONDO:0000990 17 Apr 2020 Disease Acute T cell leukemia MONDO MONDO:0003540 17 Apr 2020 Disease Acute thyroiditis MONDO C0001360 MONDO:0001949 17 Apr 2020 Disease Acute transudative otitis media MONDO MONDO:0002738 17 Apr 2020 Disease Acute transverse myelitis MONDO C0270627 MONDO:0015342 17 Apr 2020 Disease Acute tricyclic antidepressant poisoning MONDO CN227537 MONDO:0018547 17 Apr 2020 Disease Acute tubular necrosis Human Phenotype Ontology C0022672 HP:0008682 16 Feb 2016 Finding Acute tubulointerstitial nephritis Human Phenotype Ontology C1843274 HP:0004729 16 Feb 2016 Disease Acute tympanitis MONDO C0155460 MONDO:0001802 17 Apr 2020 Disease acute upper respiratory infections 14 Mar 2019 Finding Acute urate nephropathy MONDO C0341712 MONDO:0003652 17 Apr 2020 Disease Acute zonal occult outer retinopathy C0730298 16 Feb 2016 Disease Acyl-CoA dehydrogenase deficiency MONDO C0268635 MONDO:0017714 17 Apr 2020 Disease Acyl-CoA dehydrogenase family, member 9, deficiency of NCBI curation C4747517 611126 16 Feb 2016 Disease Acyl-CoA oxidase deficiency 16 Feb 2016 Disease Adactyly Human Phenotype Ontology C0238591 HP:0009776 16 Feb 2016 Finding Adactyly of foot MONDO MONDO:0018563 17 Apr 2020 Disease Adactyly of foot, bilateral MONDO MONDO:0017510 17 Apr 2020 Disease Adactyly of foot, unilateral MONDO MONDO:0017509 17 Apr 2020 Disease Adactyly of hand MONDO MONDO:0017422 17 Apr 2020 Disease adalimumab response - Efficacy PharmGKB CN236459 655384799 18 May 2016 Pharmacological response Adam complex NCBI curation 16 Feb 2016 Disease Adamantinoid basal cell epithelioma MONDO C1304295 MONDO:0002947 17 Apr 2020 Disease Adamantinoma of long bones NCBI curation C0334556 102660 16 Feb 2016 Disease Adamantinous craniopharyngioma MONDO C0431129 MONDO:0002787 17 Apr 2020 Disease Adams-Oliver syndrome OMIM phenotypic series C0265268 PS100300 16 Feb 2016 Disease Adams-Oliver syndrome 1 NCBI curation C4551482 100300 16 Feb 2016 Disease Adams-Oliver syndrome 2 NCBI curation C3280182 614219 16 Feb 2016 Disease Adams-Oliver syndrome 3 NCBI curation C3553748 614814 16 Feb 2016 Disease Adams-Oliver syndrome 4 NCBI curation C3809092 615297 16 Feb 2016 Disease Adams-Oliver syndrome 5 NCBI curation C4014970 616028 16 Feb 2016 Disease Adams-Oliver syndrome 6 NCBI curation C4225271 616589 16 Feb 2016 Disease Adams-Stokes syndrome MONDO C0001396 MONDO:0043475 17 Apr 2020 Disease ADan amyloidosis MONDO C1861735 MONDO:0007297 117300 17 Apr 2020 Disease ADAR-Related Disorders 23 May 2019 Disease ADCK3-Related Disorders 23 May 2019 Disease ADD 05 Sep 2019 Finding Addictive behavior Human Phenotype Ontology C0085281 HP:0030858 02 Apr 2017 Finding Addison disease, susceptibility to NCBI curation 16 Feb 2016 Disease Addison's disease NCBI curation C1868690 240200 16 Feb 2016 Disease Additional crus of antihelix Human Phenotype Ontology C4023447 HP:0011235 16 Feb 2016 Finding Adducted thumb Human Phenotype Ontology C3554617 HP:0001181 16 Feb 2016 Finding Adducted thumb and clubfoot syndrome 16 Feb 2016 Disease Adducted thumb syndrome recessive form 16 Feb 2016 Disease Adducted thumbs Dundar type 16 Feb 2016 Disease Adducted thumbs syndrome NCBI curation C0431886 201550 16 Feb 2016 Disease Adductor longus contractures Human Phenotype Ontology C1859524 HP:0006366 16 Feb 2016 Finding Adenine phosphoribosyltransferase deficiency NCBI curation C0268120 614723 16 Feb 2016 Disease Adenoameloblastoma 16 Feb 2016 Disease Adenocarcinofibroma MONDO C1510778 MONDO:0002991 17 Apr 2020 Disease Adenocarcinoid tumor 16 Feb 2016 Disease Adenocarcinoma C0001418 16 Feb 2016 Disease Adenocarcinoma in situ MONDO C0334276 MONDO:0003218 17 Apr 2020 Disease Adenocarcinoma of esophagus NCBI curation 16 Feb 2016 Disease Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, somatic NCBI curation C1851577 16 Feb 2016 Disease Adenocarcinoma of penis MONDO C2212153 MONDO:0018351 17 Apr 2020 Disease Adenocarcinoma of prostate NCBI curation C0007112 02 Mar 2017 Disease Adenocarcinoma of skene gland origin MONDO C1527427 MONDO:0004173 17 Apr 2020 Disease Adenocarcinoma of stomach NCBI curation C0278701 02 Mar 2017 Disease Adenocarcinoma of the intestines Human Phenotype Ontology C4280683 HP:0040273 02 Apr 2017 Finding Adenocarcinoma of the large intestine Human Phenotype Ontology C1319315 HP:0040275 02 Apr 2017 Finding Adenocarcinoma of the small intestine Human Phenotype Ontology C0278803 HP:0040274 02 Apr 2017 Finding Adenofibroma MONDO C0001422 MONDO:0006071 17 Apr 2020 Disease Adenohypophysitis MONDO C5190880 MONDO:0019838 17 Apr 2020 Disease Adenoid cystic breast carcinoma MONDO C1332167 MONDO:0003185 17 Apr 2020 Disease Adenoid cystic carcinoma NCBI curation C0010606 12 May 2017 Disease Adenoid cystic carcinoma of oropharynx MONDO C1335139 MONDO:0021300 17 Apr 2020 Disease Adenoid cystic carcinoma of the corpus uteri MONDO MONDO:0016271 17 Apr 2020 Disease Adenoidectomy 23 Jan 2020 Finding Adenoiditis Human Phenotype Ontology C0001427 HP:0031458 04 Apr 2018 Finding Adenoma MONDO C0001430 MONDO:0004972 17 Apr 2020 Disease Adenoma of nipple MONDO C0334378 MONDO:0021301 17 Apr 2020 Disease Adenoma of pancreas MONDO C4076724 MONDO:0019668 17 Apr 2020 Disease Adenoma of small intestine MONDO C1302392 MONDO:0021303 17 Apr 2020 Disease Adenoma of the adrenal gland NCBI curation 16 Feb 2016 Disease Adenoma sebaceum Human Phenotype Ontology C0265319 HP:0009720 16 Feb 2016 Finding Adenoma, cortisol-producing NCBI curation C3151153 16 Feb 2016 Disease Adenomas, multiple colorectal CN259015 13 Jun 2019 Disease Adenomatoid tumor MONDO C0206675 MONDO:0004230 17 Apr 2020 Disease Adenomatous colon polyp MONDO MONDO:0006498 17 Apr 2020 Disease Adenomatous colonic polyposis Human Phenotype Ontology C1868071 HP:0005227 16 Feb 2016 Finding Adenomatous polyposis coli with congenital cholesteatoma NCBI curation C2673229 16 Feb 2016 Disease Adenomatous polyposis coli, attenuated NCBI curation C1868019 16 Feb 2016 Disease Adenomatous polyposis coli, susceptibility to NCBI curation 16 Feb 2016 Disease Adenomyoma MONDO C0206622 MONDO:0005635 17 Apr 2020 Disease Adenomyoma of uterine corpus MONDO C1336903 MONDO:0003237 17 Apr 2020 Disease Adenosarcoma MONDO C0001442 MONDO:0005636 17 Apr 2020 Disease Adenosarcoma of the corpus uteri MONDO CN201046 MONDO:0016257 17 Apr 2020 Disease Adenosarcoma of the uterus 16 Feb 2016 Disease Adenosine deaminase 2 allozyme NCBI curation 16 Feb 2016 Named protein variant Adenosine deaminase, elevated, hemolytic anemia due to NCBI curation C1863235 102730 16 Feb 2016 Disease Adenosine triphosphatase deficiency, anemia due to MONDO C1863225 MONDO:0007066 102800 22 Apr 2020 Disease Adenosine triphosphate, elevated, of erythrocytes NCBI curation C1863224 102900 16 Feb 2016 Disease Adenosquamous breast carcinoma MONDO C1510796 MONDO:0003548 17 Apr 2020 Disease Adenosquamous carcinoma MONDO C0206623 MONDO:0006074 17 Apr 2020 Disease Adenosquamous colon carcinoma MONDO C1333082 MONDO:0003554 17 Apr 2020 Disease Adenosquamous lung carcinoma MONDO C0279557 MONDO:0004973 17 Apr 2020 Disease Adenosquamous prostate carcinoma MONDO C1335503 MONDO:0003558 17 Apr 2020 Disease adenotonsillar hypertrophy 05 Sep 2019 Finding Adenoviridae infectious disease MONDO C0001486 MONDO:0043479 04 Jun 2020 Infectious disease Adenovirus renal infection MONDO CN281905 MONDO:0100110 04 Jun 2020 Infectious disease Adenylate kinase deficiency, hemolytic anemia due to NCBI curation C2675459 612631 16 Feb 2016 Disease Adenylosuccinate lyase deficiency C0268126 103050 16 Feb 2016 Disease Adermatoglyphia Human Phenotype Ontology C1852150 HP:0007455 136000 16 Feb 2016 Finding ADGRV1-related myoclonic epilepsy 10 Jan 2020 Finding Adhesions of uterus MONDO C0241593 MONDO:0001809 17 Apr 2020 Disease Adhesive otitis media MONDO C0155478 MONDO:0001234 17 Apr 2020 Disease Adiaspiromycosis MONDO C0259737 MONDO:0000239 04 Jun 2020 Infectious disease Adipocyte hypertrophy Human Phenotype Ontology C4280781 HP:0030759 02 Apr 2017 Finding Adiponectin, serum level of, quantitative trait locus 2 NCBI curation C1847530 606770 16 Feb 2016 Disease Adiponectin, serum level of, quantitative trait locus 3 NCBI curation C1847529 606771 16 Feb 2016 Disease Adiponectin, serum level of, quantitative trait locus 4 NCBI curation C2675461 612629 16 Feb 2016 Disease Adiponectin, serum level of, quantitative trait locus 5 NCBI curation C3151203 613836 16 Feb 2016 Disease Adipose tissue loss Human Phenotype Ontology C4024615 HP:0008887 16 Feb 2016 Finding adjustment disorder C0001546 18 Jan 2019 Finding adjustment disorder with depressed mood C0001539 18 Jan 2019 Finding adjustment disorder with disturbance of conduct 05 Sep 2019 Finding adjustment disorder with mixed disturbance of emotions and conduct C0001541 18 Jan 2019 Finding Adnexal spiradenoma/cylindroma of a sweat gland 16 Feb 2016 Disease Adolescence-adult electroclinical syndrome MONDO MONDO:0000415 17 Apr 2020 Disease Adolescent alopeciam dentogingival abnormalitites and intellectual disability CN233177 16 Feb 2016 Disease Adolescent idiopathic scoliosis MONDO C0410702 MONDO:0005488 22 Apr 2020 Disease Adolescent-onset epilepsy syndrome MONDO CN206977 MONDO:0020073 17 Apr 2020 Disease Adolescent/adult-onset epilepsy syndrome MONDO MONDO:0100030 17 Apr 2020 Disease ADRB2 POLYMORPHISM 05 May 2019 Disease Adrenal adenoma, familial 16 Feb 2016 Disease Adrenal calcification Human Phenotype Ontology C0271750 HP:0010512 16 Feb 2016 Finding Adrenal cancer 16 Feb 2016 Disease Adrenal cortex disease MONDO C0001614 MONDO:0002816 17 Apr 2020 Disease Adrenal cortex neoplasm MONDO MONDO:0036591 17 Apr 2020 Disease ADRENAL CORTICAL NEOPLASM 20 Sep 2017 Disease Adrenal gland agenesis Human Phenotype Ontology C0266273 HP:0011743 16 Feb 2016 Finding Adrenal gland cancer MONDO MONDO:0002817 17 Apr 2020 Disease Adrenal gland dysgenesis Human Phenotype Ontology C1856017 HP:0008216 16 Feb 2016 Finding Adrenal gland ganglioneuroblastoma MONDO C1332176 MONDO:0004477 17 Apr 2020 Disease Adrenal gland myelolipoma MONDO C0206635 MONDO:0006075 17 Apr 2020 Disease Adrenal gland neoplasm MONDO MONDO:0021227 17 Apr 2020 Disease Adrenal gland neuroblastoma MONDO C0559460 MONDO:0006076 17 Apr 2020 Disease Adrenal gland pheochromocytoma MONDO MONDO:0004974 17 Apr 2020 Disease Adrenal hyperplasia Human Phenotype Ontology C1621895 HP:0008221 16 Feb 2016 Finding Adrenal hypertension 16 Feb 2016 Disease Adrenal hypoplasia Human Phenotype Ontology C1846223 HP:0000835 16 Feb 2016 Finding Adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone NCBI curation C1859978 202150 16 Feb 2016 Disease Adrenal hypoplasia, congenital, with precocious puberty NCBI curation C1846220 16 Feb 2016 Disease Adrenal hypoplasia, cytomegalic type NCBI curation C1859977 202155 16 Feb 2016 Disease Adrenal insufficiency Human Phenotype Ontology C0001623 HP:0000846 16 Feb 2016 Finding Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete NCBI curation C3151055 613743 16 Feb 2016 Disease ADRENAL INSUFFICIENCY, NR5A1-RELATED CN244003 26 May 2017 Disease Adrenal insufficiency, progressive, and hypogonadotropic hypogonadism NCBI curation CN043251 16 Feb 2016 Disease Adrenal macropolyadenomatosis 16 Feb 2016 Disease Adrenal medulla cancer 16 Feb 2016 Disease Adrenal medulla carcinoma MONDO MONDO:0004202 17 Apr 2020 Disease Adrenal medullary hyperplasia MONDO C1332177 MONDO:0006077 17 Apr 2020 Disease Adrenal medullary hypoplasia Human Phenotype Ontology C4024717 HP:0008239 16 Feb 2016 Finding Adrenal overactivity Human Phenotype Ontology C4025685 HP:0002717 16 Feb 2016 Finding Adrenal pheochromocytoma Human Phenotype Ontology C4551683 HP:0006748 16 Feb 2016 Finding Adrenal rest tumor MONDO C0001630 MONDO:0002110 17 Apr 2020 Disease Adrenal/paraganglial tumor MONDO CN197370 MONDO:0015077 17 Apr 2020 Disease Adrenocortical abnormality Human Phenotype Ontology C4025820 HP:0000849 16 Feb 2016 Finding Adrenocortical adenoma Human Phenotype Ontology C0206667 HP:0008256 16 Feb 2016 Finding Adrenocortical carcinoma Human Phenotype Ontology C0206686 HP:0006744 12 May 2017 Disease Adrenocortical carcinoma, hereditary NCBI curation C1859972 202300 16 Feb 2016 Disease Adrenocortical carcinoma, pediatric NCBI curation C1859973 16 Feb 2016 Disease Adrenocortical cytomegaly Human Phenotype Ontology C1851720 HP:0008186 16 Feb 2016 Finding Adrenocortical hypoplasia Human Phenotype Ontology C4024719 HP:0008182 16 Feb 2016 Finding Adrenocortical tumor, somatic NCBI curation C4016392 16 Feb 2016 Disease Adrenocortical unresponsiveness to ACTH with postreceptor defect NCBI curation C1859971 202355 16 Feb 2016 Disease Adrenocorticotropic hormone deficiency Human Phenotype Ontology C0271583 HP:0011748 201400 10 Apr 2018 Disease Adrenocorticotropic hormone excess Human Phenotype Ontology C4021124 HP:0011749 16 Feb 2016 Finding Adrenocorticotropin deficient adrenal insufficiency Human Phenotype Ontology C4023211 HP:0011735 02 Apr 2017 Finding Adrenocorticotropin receptor defect Human Phenotype Ontology C4021548 HP:0008259 02 Apr 2017 Finding Adrenogenital syndrome Human Phenotype Ontology C0302280 HP:0000840 16 Feb 2016 Finding Adrenoleukodystrophy C0162309 300100 16 Feb 2016 Disease Adrenomyodystrophy C1846044 300270 16 Feb 2016 Disease Adult acute lymphoblastic leukemia MONDO C0751606 MONDO:0003541 17 Apr 2020 Disease Adult acute monocytic leukemia MONDO C0280634 MONDO:0000875 17 Apr 2020 Disease Adult anaplastic ependymoma MONDO C0280787 MONDO:0003690 17 Apr 2020 Disease Adult anaplastic large cell lymphoma NCBI curation C1332182 16 Feb 2016 Disease Adult astrocytic tumour MONDO C1332183 MONDO:0002503 17 Apr 2020 Disease Adult botryoid rhabdomyosarcoma MONDO C1332185 MONDO:0004012 17 Apr 2020 Disease Adult brain ependymoma MONDO C1332186 MONDO:0004352 17 Apr 2020 Disease Adult brain stem neoplasm MONDO C1332192 MONDO:0024797 17 Apr 2020 Disease Adult brainstem astrocytoma MONDO C1332191 MONDO:0003706 17 Apr 2020 Disease Adult brainstem glioma MONDO C0278873 MONDO:0003153 17 Apr 2020 Disease Adult brainstem gliosarcoma MONDO C1377914 MONDO:0003152 17 Apr 2020 Disease Adult brainstem mixed glioma MONDO C1377915 MONDO:0003705 17 Apr 2020 Disease Adult central nervous system choriocarcinoma MONDO C1370505 MONDO:0003952 17 Apr 2020 Disease Adult central nervous system embryonal carcinoma MONDO C1370503 MONDO:0004155 17 Apr 2020 Disease Adult central nervous system germ cell tumor MONDO C0280796 MONDO:0003405 17 Apr 2020 Disease Adult central nervous system germinoma MONDO C1370504 MONDO:0004383 17 Apr 2020 Disease Adult central nervous system immature teratoma MONDO C1332193 MONDO:0003734 17 Apr 2020 Disease Adult central nervous system mature teratoma MONDO C1332194 MONDO:0003732 17 Apr 2020 Disease Adult central nervous system mixed germ cell tumor MONDO C1332195 MONDO:0004406 17 Apr 2020 Disease Adult central nervous system primitive neuroectodermal neoplasm MONDO C1332196 MONDO:0002795 17 Apr 2020 Disease Adult central nervous system teratoma MONDO C1370506 MONDO:0003731 17 Apr 2020 Disease Adult cerebellar neoplasm MONDO C1332197 MONDO:0003260 17 Apr 2020 Disease Adult choroid plexus neoplasm MONDO C0796430 MONDO:0002683 17 Apr 2020 Disease Adult cystic teratoma MONDO C1368888 MONDO:0004099 17 Apr 2020 Disease Adult dermatomyositis MONDO MONDO:0001907 17 Apr 2020 Disease Adult embryonal tumor with multilayered rosettes, c19mc-altered MONDO C0281330 MONDO:0004310 17 Apr 2020 Disease Adult epithelioid sarcoma MONDO C0279545 MONDO:0004521 17 Apr 2020 Disease Adult extraosseous chondrosarcoma MONDO MONDO:0004391 17 Apr 2020 Disease Adult extraskeletal osteosarcoma MONDO C0278985 MONDO:0004374 17 Apr 2020 Disease Adult familial nephronophthisis-spastic quadriparesia syndrome MONDO CN202376 MONDO:0017044 17 Apr 2020 Disease Adult fibrosarcoma MONDO C0278595 MONDO:0002676 17 Apr 2020 Disease Adult germ cell tumor MONDO C3900101 MONDO:0044878 17 Apr 2020 Disease Adult glioblastoma MONDO C0278878 MONDO:0020690 17 Apr 2020 Disease Adult hypophosphatasia C0268413 146300 16 Feb 2016 Disease ADULT i BLOOD GROUP PHENOTYPE NCBI curation C1292164 16 Feb 2016 Finding Adult I blood group with congenital cataract NCBI curation C3501833 16 Feb 2016 Disease Adult i blood group with or without congenital cataract NCBI curation 25 Jan 2017 Disease Adult i blood group without congenital cataract NCBI curation C3501834 25 Jan 2017 Disease Adult infiltrating astrocytic neoplasm MONDO C0281329 MONDO:0004320 17 Apr 2020 Disease Adult intestinal botulism MONDO C4289991 MONDO:0015806 04 Jun 2020 Infectious disease Adult intracranial malignant hemangiopericytoma MONDO MONDO:0003857 17 Apr 2020 Disease Adult kidney Wilms tumor MONDO C1332219 MONDO:0024675 17 Apr 2020 Disease Adult leptomeningeal melanoma MONDO C1332204 MONDO:0003765 17 Apr 2020 Disease Adult liposarcoma MONDO C0278608 MONDO:0003585 17 Apr 2020 Disease Adult lymphoma MONDO C1332206 MONDO:0003660 17 Apr 2020 Disease Adult malignant hemangiopericytoma MONDO C0279547 MONDO:0003856 17 Apr 2020 Disease Adult malignant mesenchymoma MONDO C0279548 MONDO:0003692 17 Apr 2020 Disease Adult malignant schwannoma MONDO C0278622 MONDO:0004545 17 Apr 2020 Disease Adult medulloblastoma MONDO C0278876 MONDO:0002794 17 Apr 2020 Disease Adult mesenchymal chondrosarcoma MONDO C1332207 MONDO:0003042 17 Apr 2020 Disease Adult myxoid chondrosarcoma MONDO C1332209 MONDO:0003899 17 Apr 2020 Disease Adult neuronal ceroid lipofuscinosis C0022797 204300 16 Feb 2016 Disease Adult nodular lymphocyte predominant Hodgkin lymphoma MONDO C1332210 MONDO:0019478 17 Apr 2020 Disease Adult oligodendroglioma MONDO C0279070 MONDO:0002543 17 Apr 2020 Disease Adult onset angioedema 16 Feb 2016 Disease Adult onset sensorineural hearing impairment Human Phenotype Ontology C4021534 HP:0008615 16 Feb 2016 Finding Adult onset vitelliform dystrophy 12 Feb 2020 Disease Adult papillary meningioma MONDO C0281334 MONDO:0004373 17 Apr 2020 Disease Adult pineal parenchymal tumor MONDO C0280794 MONDO:0003248 17 Apr 2020 Disease Adult pineoblastoma MONDO C0281332 MONDO:0003957 17 Apr 2020 Disease Adult pleomorphic rhabdomyosarcoma MONDO C1332211 MONDO:0004513 17 Apr 2020 Disease Adult polyglucosan body neuropathy NCBI curation C4017118 13 Dec 2018 Disease Adult progressive spinal muscular atrophy, Aran Duchenne type MONDO MONDO:0021824 22 Apr 2020 Disease Adult proximal spinal muscular atrophy, autosomal dominant NCBI curation C1866777 182980 16 Feb 2016 Disease Adult pulmonary Langerhans cell histiocytosis MONDO C3161104 MONDO:0020520 17 Apr 2020 Disease Adult Spinal Cord Ependymoma C1332215 26 Jun 2019 Disease Adult spinal cord glioblastoma MONDO C0559185 MONDO:0004363 17 Apr 2020 Disease Adult spinal muscular atrophy MONDO C1838230 MONDO:0010056 271150 17 Apr 2020 Disease ADULT syndrome NCBI curation C1863204 103285 03 May 2020 Disease Adult teratoma MONDO C1368898 MONDO:0003516 17 Apr 2020 Disease Adult type testicular granulosa cell tumor MONDO C1515284 MONDO:0004548 17 Apr 2020 Disease Adult vagina botryoid embryonal rhabdomyosarcoma MONDO C1515893 MONDO:0004013 17 Apr 2020 Disease Adult xanthogranuloma MONDO C1332220 MONDO:0004385 17 Apr 2020 Disease Adult yolk sac tumor MONDO C1332221 MONDO:0003404 17 Apr 2020 Disease Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy MONDO C4511138 MONDO:0018002 17 Apr 2020 Disease Adult-onset citrullinemia type I MONDO CN201794 MONDO:0016601 17 Apr 2020 Disease Adult-onset distal myopathy due to VCP mutation MONDO C4749506 MONDO:0018006 17 Apr 2020 Disease Adult-onset myasthenia gravis MONDO CN204979 MONDO:0018324 17 Apr 2020 Disease Adult-onset nemaline myopathy MONDO C0546123 MONDO:0015739 17 Apr 2020 Disease Adult-onset night blindness Human Phenotype Ontology C4024790 HP:0007830 16 Feb 2016 Finding adult-onset progressive shortening of fingers and toes 13 Feb 2020 Finding Adult-onset segmental dystonia MONDO MONDO:0100015 17 Apr 2020 Disease Adult-onset Still disease MONDO C0085253 MONDO:0019355 07 Jun 2020 Disease adults with personal and/or family history of colorectal cancer and/or polyps CN236698 19 May 2016 Finding Advanced eruption of teeth Human Phenotype Ontology C0266054 HP:0006288 16 Feb 2016 Finding Advanced heart failure MONDO MONDO:0005257 17 Apr 2020 Disease Advanced maternal age CN235172 16 Feb 2016 Finding Advanced maternal age gravida NCBI curation C1562890 16 Feb 2016 Disease Advanced maternal age MedGen UID:489792 22 Jun 2020 Finding Advanced ossification of carpal bones Human Phenotype Ontology C1849292 HP:0004233 16 Feb 2016 Finding Advanced ossification of the hand bones Human Phenotype Ontology C4020834 HP:0004051 16 Feb 2016 Finding Advanced ossification of the humeral epiphysis Human Phenotype Ontology C4025526 HP:0003893 16 Feb 2016 Finding Advanced pneumatization of cranial sinuses Human Phenotype Ontology C4023793 HP:0010540 16 Feb 2016 Finding Advanced pneumatization of the mastoid process Human Phenotype Ontology C4021828 HP:0010724 16 Feb 2016 Finding Advanced sleep phase syndrome OMIM phenotypic series C1858496 PS604348 17 Apr 2020 Disease Advanced sleep phase syndrome MONDO C1858496 MONDO:0015609 17 Apr 2020 Disease Advanced sleep phase syndrome, familial, 2 NCBI curation C3808874 615224 16 Feb 2016 Disease Advanced sleep phase syndrome, familial, 3 NCBI curation C4225169 616882 23 Oct 2016 Disease Advanced tarsal ossification Human Phenotype Ontology C1849293 HP:0008108 16 Feb 2016 Finding Aerobic actinomyces infection C2931717 16 Feb 2016 Infectious disease Aerodigestive tract cancer, squamous cell, alcohol-related, protection against NCBI curation C3887915 24 Aug 2016 Disease Aerodigestive tract cancer, susceptibility to NCBI curation 16 Feb 2016 Disease Aeromonas hydrophila infectious disease MONDO CN281751 MONDO:0005117 04 Jun 2020 Infectious disease Aeromonas hydrophila intestinal disease MONDO C2960005 MONDO:0024459 04 Jun 2020 Infectious disease Affected 18 Jun 2020 Finding affected deceased child 01 May 2018 Finding Affective auras Human Phenotype Ontology C4023086 HP:0012003 16 Feb 2016 Finding Afferent loop syndrome MONDO C0001727 MONDO:0006641 17 Apr 2020 Disease AFib amyloidosis CN244920 11 May 2018 Disease Afibrinogenemia C3463916 610984 16 Feb 2016 Disease Afibrinogenemia, congenital NCBI curation C2584774 202400 16 Feb 2016 Disease Aflatoxin-related hepatocellular carcinoma MONDO C1332222 MONDO:0003245 17 Apr 2020 Disease African histoplasmosis MONDO C0220977 MONDO:0001262 04 Jun 2020 Infectious disease African nutritional hemochromatosis C0268063 601195 16 Feb 2016 Disease African swine fever MONDO C0001752 MONDO:0025377 04 Jun 2020 Infectious disease African tick-bite fever MONDO C1320317 MONDO:0000227 04 Jun 2020 Infectious disease Agalactia Human Phenotype Ontology C0152158 HP:0031109 04 Apr 2018 Finding Agammaglobulinemia OMIM phenotypic series C0001768 PS601495 02 Mar 2017 Disease Agammaglobulinemia Human Phenotype Ontology C0001768 HP:0004432 02 Mar 2017 Disease Agammaglobulinemia 2, autosomal recessive NCBI curation C3150750 613500 16 Feb 2016 Disease Agammaglobulinemia 3, autosomal recessive NCBI curation C3150751 613501 16 Feb 2016 Disease Agammaglobulinemia 4, autosomal recessive NCBI curation C3150752 613502 16 Feb 2016 Disease Agammaglobulinemia 5, autosomal dominant NCBI curation C3150753 613506 16 Feb 2016 Disease Agammaglobulinemia 6, autosomal recessive NCBI curation C3150207 612692 16 Feb 2016 Disease Agammaglobulinemia 7, autosomal recessive NCBI curation C3554689 615214 16 Feb 2016 Disease Agammaglobulinemia 8, autosomal dominant NCBI curation C4310786 616941 31 Mar 2018 Disease Agammaglobulinemia, non-Bruton type C3152144 601495 16 Feb 2016 Disease Agammaglobulinemia, X-linked 1 CN231412 16 Feb 2016 Disease Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome MONDO C1864848 MONDO:0012508 610483 17 Apr 2020 Disease Aganglionic megacolon Human Phenotype Ontology C0025160 HP:0002251 16 Feb 2016 Finding Aganglionosis of the small intestine Human Phenotype Ontology C4023346 HP:0011464 16 Feb 2016 Finding Aganglionosis, total intestinal MONDO C0345240 MONDO:0008738 202550 22 Apr 2020 Disease Age of death Human Phenotype Ontology C1546180 HP:0011420 16 Feb 2016 Finding Age-related cataract Human Phenotype Ontology C0036646 HP:0011141 16 Feb 2016 Finding Age-related cortical cataract Human Phenotype Ontology C2880562 HP:0011143 16 Feb 2016 Finding Age-related hearing impairment MONDO MONDO:0005562 17 Apr 2020 Disease Age-related hearing impairment 1 NCBI curation C2676230 612448 24 Aug 2016 Disease Age-related hearing impairment 2 NCBI curation C2751814 612976 24 Aug 2016 Disease Age-related macular degeneration Human Phenotype Ontology C0242383 HP:0007868 16 Feb 2016 Disease Age-related macular degeneration 1 NCBI curation C1864205 603075 25 May 2016 Disease Age-related macular degeneration 10 NCBI curation C1969108 611488 16 Feb 2016 Disease Age-related macular degeneration 11 NCBI curation C2677774 611953 25 May 2016 Disease Age-related macular degeneration 12 NCBI curation C3151079 613784 16 Feb 2016 Disease Age-related macular degeneration 13 NCBI curation C3809523 615439 16 Feb 2016 Disease Age-related macular degeneration 14 NCBI curation C3809653 615489 16 Feb 2016 Disease Age-related macular degeneration 2 NCBI curation C3495438 267718000 153800 16 Feb 2016 Disease Age-related macular degeneration 3 NCBI curation C4225406 608895 16 Feb 2016 Disease Age-related macular degeneration 4 NCBI curation C1853147 610698 16 Feb 2016 Disease Age-related macular degeneration 5 NCBI curation C3151063 613761 16 Feb 2016 Disease Age-related macular degeneration 6 NCBI curation C3151060 613757 16 Feb 2016 Disease Age-related macular degeneration 7 NCBI curation C1857813 610149 16 Feb 2016 Disease Age-related macular degeneration 8 NCBI curation C3151070 613778 16 Feb 2016 Disease Age-related macular degeneration 9 NCBI curation C1969651 611378 16 Feb 2016 Disease Age-related posterior subcapsular cataract Human Phenotype Ontology C4023517 HP:0011144 16 Feb 2016 Finding Aged leonine appearance Human Phenotype Ontology C3550331 HP:0008509 16 Feb 2016 Finding Agenesis and aplasia of uterine body MONDO CN261651 MONDO:0015844 17 Apr 2020 Disease Agenesis of canine Human Phenotype Ontology C4021072 HP:0012738 16 Feb 2016 Finding Agenesis of central incisor Human Phenotype Ontology C1855000 HP:0006289 16 Feb 2016 Finding Agenesis of cerebral white matter MONDO C1859969 MONDO:0008739 202600 17 Apr 2020 Disease AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME OMIM CN283241 618929 618929 28 Jun 2020 Disease Agenesis of first permanent molar tooth Human Phenotype Ontology C4023562 HP:0011056 16 Feb 2016 Finding Agenesis of incisor Human Phenotype Ontology C4020815 HP:0006485 16 Feb 2016 Finding Agenesis of lateral incisor Human Phenotype Ontology C4021881 HP:0200153 16 Feb 2016 Finding Agenesis of mandibular central incisor Human Phenotype Ontology C4025054 HP:0006355 16 Feb 2016 Finding Agenesis of mandibular incisor Human Phenotype Ontology C4021876 HP:0200161 16 Feb 2016 Finding Agenesis of mandibular lateral incisor Human Phenotype Ontology C4021880 HP:0200154 16 Feb 2016 Finding Agenesis of mandibular premolar Human Phenotype Ontology C4023564 HP:0011053 16 Feb 2016 Finding Agenesis of maxillary central incisor Human Phenotype Ontology C4025068 HP:0006293 16 Feb 2016 Finding Agenesis of maxillary incisor Human Phenotype Ontology C4021877 HP:0200160 16 Feb 2016 Finding Agenesis of maxillary lateral incisor Human Phenotype Ontology C1849950 HP:0000690 16 Feb 2016 Finding Agenesis of maxillary premolar Human Phenotype Ontology C4023565 HP:0011052 16 Feb 2016 Finding Agenesis of molar Human Phenotype Ontology C4021203 HP:0011054 16 Feb 2016 Finding Agenesis of nasal cartilages C0339851 161480 16 Feb 2016 Disease Agenesis of permanent mandibular central incisor Human Phenotype Ontology C4023569 HP:0011048 16 Feb 2016 Finding Agenesis of permanent mandibular lateral incisor Human Phenotype Ontology C4021879 HP:0200158 16 Feb 2016 Finding Agenesis of permanent maxillary central incisor Human Phenotype Ontology C4023572 HP:0011045 16 Feb 2016 Finding Agenesis of permanent maxillary lateral incisor Human Phenotype Ontology C4023567 HP:0011050 16 Feb 2016 Finding Agenesis of permanent molar Human Phenotype Ontology C4023563 HP:0011055 16 Feb 2016 Finding Agenesis of permanent teeth Human Phenotype Ontology C0457756 HP:0006349 16 Feb 2016 Finding Agenesis of pineal gland Human Phenotype Ontology C3553078 HP:0012687 16 Feb 2016 Finding Agenesis of premolar Human Phenotype Ontology C4023566 HP:0011051 16 Feb 2016 Finding Agenesis of primary mandibular central incisor Human Phenotype Ontology C4023570 HP:0011047 16 Feb 2016 Finding Agenesis of primary mandibular lateral incisor Human Phenotype Ontology C4021878 HP:0200159 16 Feb 2016 Finding Agenesis of primary maxillary central incisor Human Phenotype Ontology C4023571 HP:0011046 16 Feb 2016 Finding Agenesis of primary maxillary lateral incisor Human Phenotype Ontology C4023568 HP:0011049 16 Feb 2016 Finding Agenesis of pulmonary vessels Human Phenotype Ontology C1970630 HP:0005311 16 Feb 2016 Finding Agenesis of second permanent molar Human Phenotype Ontology C4023561 HP:0011057 16 Feb 2016 Finding Agenesis of the anterior commissure Human Phenotype Ontology C1851087 HP:0030302 16 Feb 2016 Finding agenesis of the aqueduct of Silvio 22 Aug 2019 Finding Agenesis of the carotid canal Human Phenotype Ontology C4703438 HP:0031604 04 Apr 2018 Finding Agenesis of the corpus callosum and congenital lymphedema NCBI curation C3150887 613623 16 Feb 2016 Disease Agenesis of the corpus callosum MedGen UID:104498 22 Jun 2020 Finding Agenesis of the corpus callosum with peripheral neuropathy MONDO C0795950 MONDO:0000902 218000 17 Apr 2020 Disease Agenesis of the diaphragm Human Phenotype Ontology C0221360 HP:0008986 16 Feb 2016 Finding agenesis of the jaw 05 Sep 2019 Finding Agenesis of the small intestine Human Phenotype Ontology C4021071 HP:0012739 16 Feb 2016 Finding Agenesis of the superior vena cava MONDO CN207307 MONDO:0020445 17 Apr 2020 Disease Aggrecan-related bone disorder MONDO CN227289 MONDO:0018239 17 Apr 2020 Disease Aggressive B-cell non-Hodgkin lymphoma MONDO CN227152 MONDO:0017595 17 Apr 2020 Disease Aggressive behavior Human Phenotype Ontology C0001807 HP:0000718 16 Feb 2016 Finding aggressive behaviors 05 Sep 2019 Finding Aggressive digital papillary adenocarcinoma MONDO MONDO:0003530 17 Apr 2020 Disease Aggressive fibromatosis NCBI curation 16 Feb 2016 Disease Aggressive insulitis MONDO MONDO:0005175 17 Apr 2020 Disease Aggressive NK-cell leukemia MONDO C1292777 MONDO:0019470 22 Apr 2020 Disease aggressive outburst C0554985 18 Jan 2019 Finding Aggressive primary cutaneous B-cell lymphoma MONDO CN228986 MONDO:0015818 17 Apr 2020 Disease Aggressive primary cutaneous T-cell lymphoma MONDO CN228985 MONDO:0015817 17 Apr 2020 Disease Aggressive systemic mastocytosis MONDO C1112486 MONDO:0020333 17 Apr 2020 Disease Aging NCBI curation C0001811 502000 16 Feb 2016 Disease Agitation Human Phenotype Ontology C0085631 HP:0000713 16 Feb 2016 Finding AGK-Related Disorders CN239194 02 Dec 2016 Disease Aglossia Human Phenotype Ontology C0158663 HP:0012730 16 Feb 2016 Finding Aglossia and Situs Inversus 16 Feb 2016 Disease Aglossia-adactyly syndrome NCBI curation C1863203 103300 16 Feb 2016 Disease Agnathia-microstomia-synotia C2931718 16 Feb 2016 Disease Agnathia-otocephaly complex MONDO C0265242 MONDO:0008740 202650 22 Apr 2020 Disease Agnosia Human Phenotype Ontology C0001816 HP:0010524 16 Feb 2016 Disease Agoraphobia Human Phenotype Ontology C0001818 HP:0000756 16 Feb 2016 Finding Agranulocytosis Human Phenotype Ontology C0702094 HP:0012234 16 Feb 2016 Finding Agraphesthesia Human Phenotype Ontology C1328618 HP:0011812 16 Feb 2016 Finding Agraphia MONDO C0001825 MONDO:0000716 17 Apr 2020 Disease AGTPBP1-related condition 27 Apr 2018 Finding Agyria pachygyria polymicrogyria 16 Feb 2016 Disease Agyria-pachygyria type 1 16 Feb 2016 Disease AH amyloidosis MONDO C5204115 MONDO:0018613 17 Apr 2020 Disease Ahumada Del Castillo syndrome 16 Feb 2016 Disease Ahus, susceptibility to, 7 NCBI curation CN170847 16 Feb 2016 Disease AICAR transformylase/IMP cyclohydrolase deficiency NCBI curation C1837530 608688 16 Feb 2016 Disease Aicardi Goutieres syndrome NCBI curation C0393591 16 Feb 2016 Disease Aicardi Goutieres syndrome 1 NCBI curation C0796126 225750 16 Feb 2016 Disease Aicardi Goutieres syndrome 1, autosomal dominant NCBI curation C3150315 16 Feb 2016 Disease Aicardi Goutieres syndrome 2 NCBI curation C3489724 610181 16 Feb 2016 Disease Aicardi Goutieres syndrome 3 NCBI curation C1835916 610329 16 Feb 2016 Disease Aicardi Goutieres syndrome 4 NCBI curation C1835912 610333 16 Feb 2016 Disease Aicardi Goutieres syndrome 5 NCBI curation C2749659 612952 16 Feb 2016 Disease Aicardi's syndrome C0175713 304050 16 Feb 2016 Disease Aicardi-Goutieres syndrome 6 NCBI curation C3539013 615010 08 Apr 2018 Disease Aicardi-Goutieres syndrome 7 NCBI curation C3888244 615846 08 Apr 2018 Disease AIDS dysmorphic syndrome 16 Feb 2016 Disease AIDS phobia MONDO C0853870 MONDO:0003740 17 Apr 2020 Disease AIDS related complex MONDO C0001857 MONDO:0005639 04 Jun 2020 Infectious disease AIDS, progression to NCBI curation C1836233 16 Feb 2016 Disease AIDS-related disorder MONDO C0877121 MONDO:0024571 17 Apr 2020 Disease AIDS-related primary central nervous system lymphoma MONDO C0281241 MONDO:0006078 17 Apr 2020 Disease AIFM1-related hypomyelination with spondylometaphyseal dysplasia 13 Dec 2018 Finding Ainhum Human Phenotype Ontology C0001860 HP:0031009 103400 16 Feb 2016 Disease AIP-Related Familial Isolated Pituitary Adenomas CN169290 16 Feb 2016 Disease AIPL1-Related Disorders CN239169 02 Dec 2016 Disease AJCC grade 1 sarcoma MONDO C1332066 MONDO:0005104 17 Apr 2020 Disease Akaba Hayasaka syndrome C2930948 16 Feb 2016 Disease Akesson syndrome 16 Feb 2016 Disease Akinesia Human Phenotype Ontology C0085623 HP:0002304 16 Feb 2016 Finding Akinetic mutism Human Phenotype Ontology C0001889 HP:0012672 16 Feb 2016 Finding Akinetopsia MONDO MONDO:0000660 17 Apr 2020 Disease Aksu von Stockhausen syndrome C2930949 16 Feb 2016 Disease AKT1 Inhibitor response 04 May 2018 Pharmacological response AKT2-related familial partial lipodystrophy CN536246 17 Oct 2017 Disease AL amyloidosis NCBI curation C0268381 16 Feb 2016 Disease Al Gazali Aziz Salem syndrome 16 Feb 2016 Disease Al Gazali Donnai Mueller syndrome 16 Feb 2016 Disease Al Gazali Khidr Prem Chandran syndrome C2930951 16 Feb 2016 Disease Al Gazali Sabrinathan Nair syndrome 16 Feb 2016 Disease AL KAISSI SYNDROME OMIM C4540156 617694 617694 01 Oct 2017 Disease Al-Gazali syndrome MONDO C1836121 MONDO:0012282 609465 22 Apr 2020 Disease AL-RAQAD SYNDROME OMIM C4085595 616459 616459 16 Feb 2016 Disease Alacrima Human Phenotype Ontology C4012597 HP:0000522 601549 16 Feb 2016 Disease Alacrima, achalasia, and mental retardation syndrome NCBI curation C3809738 615510 16 Feb 2016 Disease Alacrima, congenital, autosomal dominant NCBI curation C4310836 103420 24 Aug 2016 Disease Alagille syndrome 1 NCBI curation C1956125 118450 16 Feb 2016 Disease Alagille syndrome 2 NCBI curation C1857761 610205 16 Feb 2016 Disease Alagille syndrome, ATP8B1 related CN235350 01 Mar 2016 Disease Alanine aminotransferase, plasma level of, quantitative trait locus 1 NCBI curation C2676497 612363 16 Feb 2016 Disease Alanine aminotransferase, plasma level of, quantitative trait locus 2 NCBI curation C2676496 612364 16 Feb 2016 Disease Alar cartilages hypoplasia-coloboma-telecanthus syndrome MONDO C1859964 MONDO:0008744 203000 17 Apr 2020 Disease Alar cleft, isolated NCBI curation C3553476 614687 16 Feb 2016 Disease Alazami syndrome NCBI curation C3554439 615071 16 Feb 2016 Disease Alazami-Yuan syndrome NCBI curation C4310702 617126 20 Jun 2017 Disease Albinism Human Phenotype Ontology C0001916 HP:0001022 16 Feb 2016 Disease Albinism immunodeficiency 16 Feb 2016 Disease Albinism, minimal pigment type C2931403 16 Feb 2016 Disease Albinism, ocular, with sensorineural deafness NCBI curation CN028925 103470 16 Feb 2016 Disease Albinism, oculocutaneous, type V NCBI curation C3888401 615312 24 Aug 2016 Disease Albinism, oculocutaneous, type VI NCBI curation C3695272 15 Feb 2018 Disease Albinism, oculocutaneous, type VII NCBI curation C3808786 615179 24 Aug 2016 Disease Albinism-deafness syndrome MONDO C1845068 MONDO:0010403 300700 22 Apr 2020 Disease Albright's hereditary osteodystrophy C2931404 16 Feb 2016 Disease Albright-like syndrome MONDO MONDO:0022413 22 Apr 2020 Disease ALBUMIN ASOLA 16 Feb 2016 Named protein variant ALBUMIN B 16 Feb 2016 Named protein variant ALBUMIN BAZZANO 16 Feb 2016 Named protein variant ALBUMIN BLENHEIM 16 Feb 2016 Disease ALBUMIN CASEBROOK 16 Feb 2016 Named protein variant ALBUMIN CASERTA 16 Feb 2016 Named protein variant ALBUMIN CASTEL DI SANGRO 16 Feb 2016 Named protein variant ALBUMIN COARI I 16 Feb 2016 Named protein variant ALBUMIN DUBLIN 16 Feb 2016 Named protein variant ALBUMIN FUKUOKA 1 16 Feb 2016 Named protein variant ALBUMIN HAWKES BAY 16 Feb 2016 Named protein variant ALBUMIN HERBORN 16 Feb 2016 Named protein variant ALBUMIN HIROSHIMA 1 16 Feb 2016 Named protein variant ALBUMIN HIROSHIMA 2 16 Feb 2016 Named protein variant ALBUMIN IOWA CITY 1 16 Feb 2016 Named protein variant ALBUMIN KOMAGOME 2 16 Feb 2016 Named protein variant ALBUMIN LAMBADI 16 Feb 2016 Named protein variant ALBUMIN LARINO 16 Feb 2016 Named protein variant ALBUMIN MALMO-10 16 Feb 2016 Named protein variant ALBUMIN MALMO-47 16 Feb 2016 Named protein variant ALBUMIN MALMO-5 16 Feb 2016 Named protein variant ALBUMIN MALMO-95 16 Feb 2016 Named protein variant ALBUMIN MERSIN 16 Feb 2016 Named protein variant ALBUMIN MEXICO 2 16 Feb 2016 Named protein variant ALBUMIN NAGASAKI 2 16 Feb 2016 Named protein variant ALBUMIN NAGASAKI 3 16 Feb 2016 Named protein variant ALBUMIN NAGOYA 16 Feb 2016 Named protein variant ALBUMIN NASKAPI 16 Feb 2016 Named protein variant ALBUMIN NEW GUINEA 16 Feb 2016 Named protein variant ALBUMIN ORTONOVO 16 Feb 2016 Named protein variant ALBUMIN OSAKA 1 16 Feb 2016 Named protein variant ALBUMIN OSAKA 2 16 Feb 2016 Named protein variant ALBUMIN PARKLANDS 16 Feb 2016 Named protein variant ALBUMIN REDHILL 16 Feb 2016 Named protein variant ALBUMIN ROMA 16 Feb 2016 Named protein variant ALBUMIN RUGBY PARK 16 Feb 2016 Named protein variant ALBUMIN SONDRIA 16 Feb 2016 Named protein variant ALBUMIN TAGLIACOZZO 16 Feb 2016 Named protein variant ALBUMIN TOCHIGI 16 Feb 2016 Named protein variant ALBUMIN TORINO 16 Feb 2016 Named protein variant ALBUMIN TRADATE 2 16 Feb 2016 Named protein variant ALBUMIN VANCOUVER 16 Feb 2016 Named protein variant ALBUMIN VANVES 16 Feb 2016 Named protein variant ALBUMIN VENEZIA 16 Feb 2016 Named protein variant ALBUMIN VIBO VALENTIA 16 Feb 2016 Named protein variant ALBUMIN YANOMAMA 2 16 Feb 2016 Named protein variant Albuminuria Human Phenotype Ontology C0001925 HP:0012592 16 Feb 2016 Finding Alcohol abuse MONDO C0085762 MONDO:0002046 17 Apr 2020 Disease Alcohol amnestic disorder MONDO C0001940 MONDO:0021702 17 Apr 2020 Disease Alcohol and nicotine codependence MONDO MONDO:0005432 17 Apr 2020 Disease Alcohol dependence NCBI curation C0001973 103780 06 Jul 2018 Disease Alcohol dependence, susceptibility to NCBI curation 16 Feb 2016 Disease Alcohol withdrawal MONDO C0236663 MONDO:0005433 17 Apr 2020 Disease Alcohol withdrawal delirium MONDO C0001957 MONDO:0006642 17 Apr 2020 Disease Alcohol-induced disorders MONDO C0236970 MONDO:0021699 17 Apr 2020 Disease Alcohol-induced mental disorder MONDO MONDO:0002326 17 Apr 2020 Disease Alcohol-induced rhabdomyolysis Human Phenotype Ontology C4023355 HP:0011440 16 Feb 2016 Finding Alcohol-induced Wernicke-Korsakoff's syndrome MONDO MONDO:0044333 17 Apr 2020 Disease Alcohol-related birth defect MONDO C3146244 MONDO:0000395 17 Apr 2020 Disease Alcohol-related disorders MONDO MONDO:0021698 17 Apr 2020 Disease Alcoholic cardiomyopathy MONDO C0007192 MONDO:0006643 17 Apr 2020 Disease Alcoholic fatty liver disease MONDO MONDO:0021104 17 Apr 2020 Disease Alcoholic gastritis MONDO C0156076 MONDO:0004640 17 Apr 2020 Disease Alcoholic liver cirrhosis MONDO MONDO:0006644 17 Apr 2020 Disease Alcoholic liver diseases MONDO MONDO:0043693 17 Apr 2020 Disease Alcoholic pancreatitis MONDO C0376670 MONDO:0003232 17 Apr 2020 Disease Alcoholic polyneuropathy MONDO C0085677 MONDO:0006645 17 Apr 2020 Disease Alcoholic psychosis MONDO MONDO:0002330 17 Apr 2020 Disease Alcoholism Human Phenotype Ontology CN241664 HP:0030955 02 Apr 2017 Finding Alcoholism, susceptibility to NCBI curation 16 Feb 2016 Disease Aldehyde oxidase deficiency Human Phenotype Ontology C1291266 HP:0002932 16 Feb 2016 Finding ALDH18A1 deficiency 21 May 2020 Disease ALDH9A1*2 POLYMORPHISM NCBI curation 16 Feb 2016 Named protein variant aldo-keto reductase deficiency CN860317 13 Mar 2018 Disease Aldosterone to renin ratio, increased NCBI curation C1852324 16 Feb 2016 Disease Aldosterone-producing adrenal adenoma, somatic NCBI curation C4017656 13 Dec 2018 Disease Aldosterone-producing adrenal cortex adenoma MONDO C1706762 MONDO:0016505 22 Apr 2020 Disease Aldred syndrome 16 Feb 2016 Disease ALECT2 amyloidosis MONDO CN237619 MONDO:0018588 17 Apr 2020 Disease Aleukemic leukemia MONDO C0877858 MONDO:0003730 17 Apr 2020 Disease Aleukemic leukemia cutis MONDO C0887846 MONDO:0003729 17 Apr 2020 Disease Aleukemic mast cell leukemia MONDO C4749271 MONDO:0015561 17 Apr 2020 Disease Aleukemic monocytic leukemia cutis MONDO C1332232 MONDO:0004051 17 Apr 2020 Disease Aleutian mink disease MONDO C0002016 MONDO:0005641 04 Jun 2020 Infectious disease Alexander Disease NCBI curation C0270726 203450 19 Oct 2018 Disease Alexander disease type I MONDO CN204729 MONDO:0018209 17 Apr 2020 Disease Alexander disease type II MONDO CN204730 MONDO:0018210 17 Apr 2020 Disease Alexia Human Phenotype Ontology C0002018 HP:0010523 16 Feb 2016 Finding Alexia without agraphia MONDO MONDO:0000686 17 Apr 2020 Disease Alexithymia Human Phenotype Ontology C0002020 HP:0031433 04 Apr 2018 Finding alfentanil response - Dosage, Efficacy, Metabolism/PK PharmGKB 982034197PA448084 06 Jul 2018 Pharmacological response alfentanil response - Metabolism/PK PharmGKB CN236463 982034197 18 May 2016 Pharmacological response ALG1-CDG Orphanet C2931005 ORPHA79327 608540 17 Apr 2020 Disease ALG1-CDG MONDO C2931005 MONDO:0012052 608540 17 Apr 2020 Disease ALG12-congenital disorder of glycosylation NCBI curation C2931001 607143 25 Dec 2017 Disease ALG2-CDG MONDO C1842836 MONDO:0011933 607906 17 Apr 2020 Disease ALG3-CDG MONDO C1832736 MONDO:0010998 601110 17 Apr 2020 Disease ALG8-CDG Orphanet C2931002 ORPHA79325 608104 17 Apr 2020 Disease ALG8-CDG MONDO C2931002 MONDO:0011969 608104 17 Apr 2020 Disease ALG9 congenital disorder of glycosylation NCBI curation C2931006 608776 25 Dec 2017 Disease Algoneurodystrophy MONDO MONDO:0001859 17 Apr 2020 Disease Alice in wonderland syndrome MONDO C0854348 MONDO:0024429 17 Apr 2020 Disease ALK+ histiocytosis 16 Feb 2016 Disease ALK-negative anaplastic large cell lymphoma MONDO C1332078 MONDO:0017603 17 Apr 2020 Disease ALK-positive anaplastic large cell lymphoma MONDO C1332079 MONDO:0017602 17 Apr 2020 Disease ALK-positive large B-cell lymphoma MONDO C1333294 MONDO:0018225 17 Apr 2020 Disease Alkaline ceramidase 3 deficiency MONDO C4540358 MONDO:0044718 617762 17 Apr 2020 Disease ALKALINE PHOSPHATASE, PLACENTAL, ALLELE-1 POLYMORPHISM 16 Feb 2016 Disease ALKALINE PHOSPHATASE, PLACENTAL, ALLELE-3 POLYMORPHISM NCBI curation 20 Apr 2016 Disease Alkaline phosphatase, plasma level of, quantitative trait locus 1 NCBI curation C1868387 171720 16 Feb 2016 Disease Alkaline phosphatase, plasma level of, quantitative trait locus 2 NCBI curation C2676493 612367 16 Feb 2016 Disease Alkaline phosphatase, plasma level of, quantitative trait locus 3 NCBI curation C2676492 612368 16 Feb 2016 Disease Alkaline phosphatase, plasma level of, quantitative trait locus 4 NCBI curation C2676491 612369 16 Feb 2016 Disease Alkalosis Human Phenotype Ontology C0002063 HP:0001948 16 Feb 2016 Finding Alkaptonuria GeneReviews C0002066 NBK1454 203500 16 Feb 2016 Disease Alkhurma hemorrhagic fever MONDO C5230236 MONDO:0000310 04 Jun 2020 Infectious disease ALKURAYA-KUCINSKAS SYNDROME OMIM C4693347 617822 617822 13 Jan 2018 Disease Alkylating Agents, anthracyclines and related substances, fluorouracil, and Platinum compounds response - Efficacy PharmGKB CN236460 1183491004 18 May 2016 Pharmacological response ALL 18 Jan 2019 Finding all trans retinoic acid (ATRA) response CN230750 16 Feb 2016 Pharmacological response Allain-Babin-Demarquez syndrome 16 Feb 2016 Disease Allan-Herndon-Dudley syndrome C0795889 300523 16 Feb 2016 Disease Allantoic cyst Human Phenotype Ontology C4551690 HP:0030754 02 Apr 2017 Finding Allen-Masters syndrome MONDO C0152079 MONDO:0001887 17 Apr 2020 Disease Allergic angiitis 16 Feb 2016 Disease Allergic autoimmune thyroiditis 16 Feb 2016 Disease Allergic bronchopulmonary aspergillosis C3278302 103920 16 Feb 2016 Disease Allergic conjunctivitis Human Phenotype Ontology C0009766 HP:0007879 16 Feb 2016 Finding Allergic contact dermatitis MONDO C0162820 MONDO:0006525 17 Apr 2020 Disease Allergic contact dermatitis of eyelid MONDO C0155178 MONDO:0002138 17 Apr 2020 Disease Allergic cutaneous vasculitis MONDO MONDO:0001290 17 Apr 2020 Disease Allergic encephalomyelitis 16 Feb 2016 Disease Allergic granulomatosis angiitis 16 Feb 2016 Disease Allergic otitis media MONDO C0271447 MONDO:0021202 17 Apr 2020 Disease Allergic respiratory disease MONDO MONDO:0000771 17 Apr 2020 Disease Allergic rhinitis Human Phenotype Ontology C2607914 HP:0003193 607154 16 Feb 2016 Disease Allergic rhinitis, susceptibility to NCBI curation 16 Feb 2016 Disease Allergic urticaria MONDO C0149526 MONDO:0006526 17 Apr 2020 Disease Allergy Human Phenotype Ontology C0020517 HP:0012393 16 Feb 2016 Finding Allergy/Immunologic/Infectious (adult onset) CN232462 16 Feb 2016 Finding Allergy/Immunologic/Infectious (child onset) CN232532 16 Feb 2016 Finding Allescheriosis MONDO C0153285 MONDO:0001215 04 Jun 2020 Infectious disease Allesthesia MONDO C3850010 MONDO:0024430 17 Apr 2020 Disease Alloalbuminemia NCBI curation CN220290 16 Feb 2016 Finding Allodynia Human Phenotype Ontology C0458247 HP:0012533 16 Feb 2016 Finding Allopurinol response NCBI curation CN160494 16 Feb 2016 Pharmacological response allopurinol response - Dosage, Efficacy PharmGKB 1447982582PA448320 06 Jul 2018 Pharmacological response allopurinol response - Efficacy PharmGKB CN240585 1447982582 17 Feb 2017 Pharmacological response Almond-shaped palpebral fissure Human Phenotype Ontology C4024780 HP:0007874 16 Feb 2016 Finding Alobar holoprosencephaly Human Phenotype Ontology C0431363 HP:0006988 26 Jul 2018 Disease Aloi Tomasini Isaia syndrome C2931405 16 Feb 2016 Disease Alopecia Human Phenotype Ontology C0002170 HP:0001596 16 Feb 2016 Finding alopecia (capitis) totalis 05 Sep 2019 Finding Alopecia - contractures - dwarfism - intellectual disability syndrome MONDO C0795895 MONDO:0008754 203550 17 Apr 2020 Disease Alopecia antibody deficiency MONDO C5190867 MONDO:0015082 17 Apr 2020 Disease Alopecia areata Human Phenotype Ontology C0002171 HP:0002229 16 Feb 2016 Disease Alopecia areata 1 NCBI curation C1863094 104000 16 Feb 2016 Disease Alopecia areata 2 NCBI curation C1853104 610753 16 Feb 2016 Disease Alopecia congenita keratosis palmoplantaris C3151468 104100 16 Feb 2016 Disease Alopecia immunodeficiency 16 Feb 2016 Disease Alopecia macular degeneration growth retardation 16 Feb 2016 Disease Alopecia macular degeneration growth retardation syndome MONDO MONDO:0021849 17 Apr 2020 Disease Alopecia mental retardation hypogonadism 16 Feb 2016 Disease Alopecia mucinosa MONDO C0002173 MONDO:0006551 17 Apr 2020 Disease Alopecia of scalp Human Phenotype Ontology C0574769 HP:0002293 16 Feb 2016 Finding Alopecia totalis Human Phenotype Ontology C0263504 HP:0007418 16 Feb 2016 Finding Alopecia universalis Human Phenotype Ontology C0263505 HP:0002289 16 Feb 2016 Disease Alopecia universalis congenita NCBI curation C1859877 203655 16 Feb 2016 Disease Alopecia universalis congenita, XY gonadal dysgenesis, and laryngomalacia NCBI curation C1837946 608509 16 Feb 2016 Disease Alopecia universalis onychodystrophy vitiligo C2931408 16 Feb 2016 Disease Alopecia, androgenetic, 1 NCBI curation C4049090 109200 24 Aug 2016 Disease Alopecia, androgenetic, 2 NCBI curation C2678038 300710 16 Feb 2016 Disease Alopecia, androgenetic, 3 NCBI curation C2676272 612421 16 Feb 2016 Disease Alopecia, congenital MONDO C0265992 MONDO:0010229 300042 22 Apr 2020 Disease Alopecia, familial focal NCBI curation C1863092 104110 16 Feb 2016 Disease Alopecia, isolated OMIM phenotypic series CN263180 PS203655 21 Jan 2020 Disease Alopecia, neurologic defects, and endocrinopathy syndrome NCBI curation C2677535 612079 16 Feb 2016 Disease Alopecia-epilepsy-pyorrhea-intellectual disability syndrome MONDO C1863090 MONDO:0007085 104130 17 Apr 2020 Disease Alopecia-intellectual disability syndrome Orphanet C2931280 ORPHA2850 05 Dec 2019 Disease Alopecia-intellectual disability syndrome 1 MONDO C1859878 MONDO:0021035 203650 17 Apr 2020 Disease Alopecia-intellectual disability syndrome 2 MONDO C1835852 MONDO:0012487 610422 17 Apr 2020 Disease Alopecia-mental retardation syndrome 3 NCBI curation C3151362 613930 16 Feb 2016 Disease ALOPECIA-MENTAL RETARDATION SYNDROME 4 OMIM CN272916 618840 618840 09 Apr 2020 Disease Alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism NCBI curation C1832593 601217 16 Feb 2016 Disease Alpers encephalopathy CN221139 16 Feb 2016 Disease Alpers syndrome with polyodystrophy 15 Nov 2019 Finding Alpers-like hepatocerebral syndrome 15 Nov 2019 Finding Alpha granule disease MONDO CN207009 MONDO:0020117 17 Apr 2020 Disease Alpha mannosidosis type II NCBI curation C1855396 24 Dec 2018 Disease Alpha plus thalassemia NCBI curation C1456873 02 Mar 2016 Disease alpha Thalassemia NCBI curation C0002312 604131 16 Feb 2016 Disease Alpha thalassemia-mental retardation syndrome NCBI curation C0475813 16 Feb 2016 Disease Alpha thalassemia-X-linked intellectual disability syndrome MONDO C1845055 MONDO:0010519 301040 22 Apr 2020 Disease Alpha trait thalassemia NCBI curation C0472762 16 Feb 2016 Disease alpha, alpha-Trehalase deficiency C0268187 612119 16 Feb 2016 Disease Alpha-1-antitrypsin deficiency NCBI curation C0221757 613490 16 Feb 2016 Disease Alpha-2-macroglobulin deficiency NCBI curation C3279661 614036 16 Feb 2016 Disease ALPHA-2-MACROGLOBULIN POLYMORPHISM 16 Feb 2016 Disease Alpha-2-plasmin inhibitor deficiency MONDO C2752081 MONDO:0009883 262850 17 Apr 2020 Disease Alpha-amanitin resistance NCBI curation 16 Feb 2016 Disease Alpha-B crystallinopathy NCBI curation C1837317 608810 16 Feb 2016 Disease Alpha-crystallinopathy Orphanet CN714016 ORPHA98910 26 Dec 2017 Disease alpha-Dystroglycan related dystrophy NCBI curation C2936406 16 Feb 2016 Disease Alpha-EEG Human Phenotype Ontology C4023494 HP:0011178 16 Feb 2016 Finding Alpha-fetoprotein deficiency NCBI curation C1863081 615969 16 Feb 2016 Disease Alpha-fetoprotein, hereditary persistence of NCBI curation C1863080 615970 16 Feb 2016 Disease Alpha-gal syndrome MONDO MONDO:0100001 17 Apr 2020 Disease Alpha-heavy chain disease MONDO C0021071 MONDO:0015045 17 Apr 2020 Disease Alpha-mannosidosis, adult form MONDO MONDO:0017733 17 Apr 2020 Disease Alpha-mannosidosis, infantile form MONDO MONDO:0017732 17 Apr 2020 Disease Alpha-methylacyl-CoA racemase deficiency NCBI curation C3280428 614307 16 Feb 2016 Disease Alpha-N-acetylgalactosaminidase deficiency CN276905 25 Aug 2017 Disease Alpha-N-acetylgalactosaminidase deficiency type 1 MONDO C1836544 MONDO:0012221 609241 22 Apr 2020 Disease Alpha-N-acetylgalactosaminidase deficiency type 2 MONDO C1836522 MONDO:0012222 609242 17 Apr 2020 Disease Alpha-N-acetylgalactosaminidase deficiency type 3 MONDO C1836545 MONDO:0019264 22 Apr 2020 Disease Alpha-thalassemia and related diseases NCBI curation CN257933 11 Oct 2018 Disease Alpha-thalassemia X-linked mental retardation syndrome CN860319 13 Mar 2018 Disease Alpha-thalassemia, Hmong type NCBI curation C4016158 16 Feb 2016 Disease Alpha-thalassemia, zf type NCBI curation C4016157 16 Feb 2016 Disease Alpha-thalassemia-2, nondeletional NCBI curation C4016148 16 Feb 2016 Disease Alpha-thalassemia-abnormal morphogenesis 16 Feb 2016 Disease Alpha-thalassemia-related diseases MONDO CN201534 MONDO:0016513 17 Apr 2020 Disease Alpha-thalassemia/mental retardation syndrome CN263314 09 Nov 2017 Disease Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity NCBI curation C1835931 609889 16 Feb 2016 Disease alphaB-crystallinopathy 10 Jan 2020 Finding Alphavirus infectious disease MONDO C0206752 MONDO:0005643 04 Jun 2020 Infectious disease Alport syndrome OMIM phenotypic series C1567741 PS301050 16 Feb 2016 Disease Alport syndrome 1, X-linked recessive NCBI curation C4746986 301050 22 Feb 2019 Disease Alport syndrome 3, autosomal dominant NCBI curation C4746547 104200 22 Feb 2019 Disease Alport syndrome, autosomal recessive NCBI curation C4746745 203780 16 Feb 2016 Disease ALS-like syndrome of encephalomyopathy 16 Feb 2016 Disease ALS2-Related Disorders GeneReviews CN169291 NBK1243 16 Feb 2016 Disease Alsing syndrome C2931255 16 Feb 2016 Disease Alstrom syndrome C0268425 203800 16 Feb 2016 Disease alteration of consciousness 05 Sep 2019 Finding alterations of great arteries and veins CN239849 11 Jan 2017 Disease altered awareness transient 05 Sep 2019 Finding Altered function, association with CN231084 16 Feb 2016 Disease Altered mental status C0278061 22 Aug 2019 Finding Altered myosin contractile function CN221557 16 Feb 2016 Disease altered potassium channel function NCBI curation CN231063 16 Feb 2016 Disease Altered skin pigmentation 23 Jan 2020 Finding Alternariosis MONDO C3178962 MONDO:0044083 04 Jun 2020 Infectious disease Alternating esotropia Human Phenotype Ontology C0152205 HP:0001137 16 Feb 2016 Finding Alternating exotropia NCBI curation C0152207 10 Jan 2020 Finding Alternating hemiplegia of childhood OMIM phenotypic series C0338488 PS104290 16 Feb 2016 Disease Alternating hemiplegia of childhood 1 NCBI curation C3549447 104290 16 Feb 2016 Disease Alternating hemiplegia of childhood 2 NCBI curation C3553788 614820 16 Feb 2016 Disease Alternating radiolucent and radiodense metaphyseal lines Human Phenotype Ontology C4476913 HP:0031016 04 Apr 2018 Finding Altitude sickness MONDO MONDO:0006625 17 Apr 2020 Disease Altitudinal visual field defect Human Phenotype Ontology C4073005 HP:0030531 16 Feb 2016 Finding Altman type I sacrococcygeal teratoma Human Phenotype Ontology C4280795 HP:0030737 02 Apr 2017 Finding Altman type II sacrococcygeal teratoma Human Phenotype Ontology C4280794 HP:0030738 02 Apr 2017 Finding Altman type III sacrococcygeal teratoma Human Phenotype Ontology C4280793 HP:0030739 02 Apr 2017 Finding Aluminosis MONDO C0311227 MONDO:0022428 17 Apr 2020 Disease Aluminosis of lung NCBI curation 16 Feb 2016 Disease Alveolar bone loss around teeth Human Phenotype Ontology C4315963 HP:0410027 04 Apr 2018 Finding Alveolar capillary dysplasia 16 Feb 2016 Disease Alveolar cell carcinoma Human Phenotype Ontology C0007120 HP:0006519 16 Feb 2016 Disease Alveolar periostitis MONDO C0013240 MONDO:0001752 17 Apr 2020 Disease Alveolar process hypoplasia Human Phenotype Ontology C1848905 HP:0006329 16 Feb 2016 Finding Alveolar rhabdomyosarcoma (disease) MONDO C0206655 MONDO:0009994 268220 17 Apr 2020 Disease Alveolar ridge overgrowth Human Phenotype Ontology C1865598 HP:0009085 16 Feb 2016 Finding Alveolar soft part sarcoma (disease) MONDO C0206657 MONDO:0011655 606243 17 Apr 2020 Disease Alveoli adenoma MONDO C0334303 MONDO:0004428 17 Apr 2020 Disease Alves Castelo dos Santos syndrome C2931256 16 Feb 2016 Disease ALys amyloidosis MONDO CN206639 MONDO:0019732 17 Apr 2020 Disease Alzheimer disease Human Phenotype Ontology C0002395 HP:0002511 104300 19 Feb 2020 Disease Alzheimer disease 17 NCBI curation C3554452 615080 16 Feb 2016 Disease Alzheimer disease 18 NCBI curation C3810041 615590 16 Feb 2016 Disease Alzheimer disease 19 NCBI curation C3810349 615711 16 Feb 2016 Disease Alzheimer disease 2 NCBI curation C1863051 104310 02 Mar 2016 Disease Alzheimer disease 3, protection against, due to APOE3-Christchurch NCBI curation 29 Nov 2019 Disease Alzheimer disease familial 3, with spastic paraparesis NCBI curation C4015782 17 Apr 2016 Disease Alzheimer disease neuronal thread protein NCBI curation C1846282 607413 16 Feb 2016 Disease Alzheimer disease without neurofibrillary tangles MONDO C1858751 MONDO:0011401 604154 22 Apr 2020 Disease Alzheimer disease, association with CN231085 16 Feb 2016 Disease Alzheimer disease, early-onset, susceptibility to NCBI curation 16 Feb 2016 Disease Alzheimer disease, early-onset, with cerebral amyloid angiopathy NCBI curation C1863053 16 Feb 2016 Disease Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology NCBI curation C1857933 605055 16 Feb 2016 Disease Alzheimer disease, familial, 3, with spastic paraparesis and apraxia NCBI curation C1843015 16 Feb 2016 Disease Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques NCBI curation C1843014 16 Feb 2016 Disease Alzheimer disease, familial, 3, with unusual plaques NCBI curation C4015781 16 Feb 2016 Disease Alzheimer disease, familial, with spastic paraparesis and unusual plaques NCBI curation C4015780 16 Feb 2016 Disease Alzheimer disease, late-onset, susceptibility to NCBI curation C1834153 16 Feb 2016 Disease Alzheimer disease, protection against NCBI curation C3549448 16 Feb 2016 Disease Alzheimer disease, susceptibility to NCBI curation 16 Feb 2016 Disease Alzheimer disease, susceptibility to, mitochondrial NCBI curation C1838990 502500 16 Feb 2016 Disease Alzheimer disease, type 1 NCBI curation C2931257 16 Feb 2016 Disease Alzheimer disease, type 10 NCBI curation C1864828 609636 16 Feb 2016 Disease Alzheimer disease, type 11 NCBI curation C1853360 609790 16 Feb 2016 Disease Alzheimer disease, type 12 NCBI curation C1970209 611073 16 Feb 2016 Disease Alzheimer disease, type 13 NCBI curation C1970147 611152 16 Feb 2016 Disease Alzheimer disease, type 14 NCBI curation C1970144 611154 16 Feb 2016 Disease Alzheimer disease, type 15 NCBI curation C1970143 611155 16 Feb 2016 Disease Alzheimer disease, type 16 NCBI curation C2677888 300756 16 Feb 2016 Disease Alzheimer disease, type 3 NCBI curation C1843013 607822 16 Feb 2016 Disease Alzheimer disease, type 4 NCBI curation C1847200 606889 16 Feb 2016 Disease Alzheimer disease, type 5 NCBI curation C1865868 602096 16 Feb 2016 Disease Alzheimer disease, type 6 NCBI curation C1854187 605526 16 Feb 2016 Disease Alzheimer disease, type 7 NCBI curation C1853555 606187 16 Feb 2016 Disease Alzheimer disease, type 8 NCBI curation C1846735 607116 16 Feb 2016 Disease Alzheimer disease, type 9 NCBI curation C4282179 608907 16 Feb 2016 Disease Amacr deficiency NCBI curation 16 Feb 2016 Disease Amastia MONDO CN033494 MONDO:0007238 113700 17 Apr 2020 Disease Amastia, bilateral, with ureteral triplication and dysmorphism NCBI curation C1863015 104350 16 Feb 2016 Disease Amaurosis fugax Human Phenotype Ontology C0149793 HP:0100576 16 Feb 2016 Disease Amaurosis-hypertrichosis syndrome MONDO C1857588 MONDO:0008766 204110 17 Apr 2020 Disease Ambiguous atrioventricular connection Human Phenotype Ontology C0344617 HP:0011552 16 Feb 2016 Finding Ambiguous genitalia Human Phenotype Ontology C0266362 HP:0000062 16 Feb 2016 Disease Ambiguous genitalia, female Human Phenotype Ontology C4025891 HP:0000061 16 Feb 2016 Finding Ambiguous genitalia, male Human Phenotype Ontology C4021823 HP:0000033 16 Feb 2016 Finding Amblyopia Human Phenotype Ontology C0002418 HP:0000646 16 Feb 2016 Finding Ambras type hypertrichosis universalis congenita MONDO C1840362 MONDO:0007787 145701 22 Apr 2020 Disease Amebiasis 16 Feb 2016 Disease Amegakaryocytic thrombocytopenia Human Phenotype Ontology C0398639 HP:0004859 16 Feb 2016 Finding Amelanotic melanoma MONDO C0206735 MONDO:0002971 17 Apr 2020 Disease Amelanotic skin melanoma MONDO C0349515 MONDO:0005208 17 Apr 2020 Disease Amelia Human Phenotype Ontology C0002447 HP:0009827 16 Feb 2016 Finding Amelia and terminal transverse hemimelia NCBI curation C1863014 104400 16 Feb 2016 Disease Amelia cleft lip palate hydrocephalus iris coloboma 16 Feb 2016 Disease Amelia involving the lower limbs Human Phenotype Ontology C4024197 HP:0009818 16 Feb 2016 Finding Amelia involving the upper limbs Human Phenotype Ontology C4024200 HP:0009812 16 Feb 2016 Finding Amelia of lower limb MONDO C0265621 MONDO:0017438 17 Apr 2020 Disease Amelia of lower limb, bilateral MONDO MONDO:0017481 17 Apr 2020 Disease Amelia of lower limb, unilateral MONDO MONDO:0017480 17 Apr 2020 Disease Amelia of upper limb MONDO C0265570 MONDO:0017437 17 Apr 2020 Disease Amelia of upper limb, bilateral MONDO MONDO:0017479 17 Apr 2020 Disease Amelia of upper limb, unilateral MONDO MONDO:0017478 17 Apr 2020 Disease Amelia, autosomal recessive NCBI curation C1832432 601360 16 Feb 2016 Disease Ameloblastic carcinoma MONDO C1314678 MONDO:0006079 17 Apr 2020 Disease Amelogenesis imperfecta OMIM phenotypic series C0002452 PS104500 16 Feb 2016 Disease Amelogenesis imperfecta Human Phenotype Ontology C0002452 HP:0000705 16 Feb 2016 Disease Amelogenesis imperfecta - hypoplastic autosomal dominant - local C0399368 104500 16 Feb 2016 Disease Amelogenesis imperfecta hypomaturation type NCBI curation C0399372 16 Feb 2016 Disease Amelogenesis imperfecta nephrocalcinosis 16 Feb 2016 Disease Amelogenesis imperfecta pigmented hypomaturation type C1290537 16 Feb 2016 Disease Amelogenesis imperfecta type 1G MONDO C2931783 MONDO:0008771 204690 21 Apr 2020 Disease Amelogenesis imperfecta type 3B MONDO C4539891 MONDO:0021547 617607 22 Apr 2020 Disease Amelogenesis Imperfecta, Dominant CN239159 02 Dec 2016 Disease Amelogenesis imperfecta, hypocalcification type C0399376 130900 16 Feb 2016 Disease Amelogenesis imperfecta, hypomaturation type IIA4 NCBI curation C3553830 614832 26 Feb 2017 Disease Amelogenesis imperfecta, hypomaturation type IIA5 NCBI curation C4014578 615887 14 Oct 2017 Disease Amelogenesis imperfecta, hypomaturation type IIA6 NCBI curation C4310665 617217 20 Jun 2017 Disease Amelogenesis imperfecta, hypomaturation type, IIA1 NCBI curation C2673922 204700 16 Feb 2016 Disease Amelogenesis imperfecta, hypomaturation type, IIA2 NCBI curation C2675858 612529 16 Feb 2016 Disease Amelogenesis imperfecta, hypomaturation type, IIA3 NCBI curation C2750771 613211 02 Mar 2016 Disease Amelogenesis Imperfecta, Recessive CN239209 02 Dec 2016 Disease Amelogenesis imperfecta, type 1E NCBI curation C1845053 301200 16 Feb 2016 Disease Amelogenesis imperfecta, type 1E, with snow-capped teeth NCBI curation C4016480 20 Jun 2017 Disease Amelogenesis imperfecta, type 3c MONDO C5193069 MONDO:0032717 618386 28 May 2020 Disease Amelogenesis imperfecta, type IA NCBI curation C4011403 104530 16 Feb 2016 Disease Amelogenesis imperfecta, type IC NCBI curation C2673923 204650 16 Feb 2016 Disease Amelogenesis imperfecta, type IF NCBI curation C4225394 616270 20 Jun 2017 Disease Amelogenesis imperfecta, type IH NCBI curation C4015557 616221 16 Feb 2016 Disease Amelogenesis imperfecta, type IIA2 CN258827 11 Jun 2019 Disease Amelogenesis imperfecta, type IIA3 CN258828 11 Jun 2019 Disease Amelogenesis imperfecta, type IJ NCBI curation C4310630 617297 20 Jun 2017 Disease Amelogenesis imperfecta, type IV NCBI curation C1863012 104510 09 Nov 2016 Disease Amelogenesis imperfecta-gingival hyperplasia syndrome MONDO CN200302 MONDO:0015750 17 Apr 2020 Disease Ameloonychohypohidrotic syndrome C1863006 104570 16 Feb 2016 Disease Amelotin deficiency CN235217 19 Feb 2016 Disease Amenorrhea Human Phenotype Ontology C0002453 HP:0000141 16 Feb 2016 Finding Amifampridine Phosphate Response CN282536 17 Jun 2020 Pharmacological response Amifampridine Response CN282537 17 Jun 2020 Pharmacological response Amikacin response NCBI curation CN184546 16 Feb 2016 Pharmacological response amikacin response - Toxicity/ADR PharmGKB 1444608367PA164744372 06 Jul 2018 Pharmacological response Amino acid metabolism disease MONDO MONDO:0037871 17 Apr 2020 Disease Amino acid or protein metabolism disease with epilepsy MONDO CN201330 MONDO:0016399 17 Apr 2020 Disease Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis MONDO C1859818 MONDO:0008773 204730 22 Apr 2020 Disease Aminoaciduria Human Phenotype Ontology C0238621 HP:0003355 16 Feb 2016 Disease aminoglycoside antibacterials response - Toxicity/ADR PharmGKB CN236464 1444608367 18 May 2016 Pharmacological response Aminoglycoside response NCBI curation CN184091 16 Feb 2016 Pharmacological response Aminoglycoside-induced deafness NCBI curation C1838854 580000 16 Feb 2016 Pharmacological response Aminoglycoside-induced hearing loss Human Phenotype Ontology C4023100 HP:0011975 16 Feb 2016 Finding Aminolevulinate dehydratase deficiency porphyria 16 Feb 2016 Disease AMINOLEVULINATE DEHYDRATASE, ALAD*1/ALAD*2 POLYMORPHISM 16 Feb 2016 Disease Aminopterin/methotrexate embryofetopathy MONDO C0432367 MONDO:0016004 17 Apr 2020 Disease Amiodarone response NCBI curation CN417144 28 Aug 2017 Pharmacological response Amish lethal microcephaly C1846648 607196 16 Feb 2016 Disease amisulpride response - Toxicity/ADR PharmGKB CN236465 1446898992 18 May 2016 Pharmacological response Amitriptyline response NCBI curation CN176769 16 Feb 2016 Pharmacological response amitriptyline response - Dosage, Toxicity/ADR PharmGKB CN236466 1183617220 18 May 2016 Pharmacological response amitriptyline response - Efficacy PharmGKB CN236467 982038252 18 May 2016 Pharmacological response Amme complex NCBI curation C1846242 300194 16 Feb 2016 Disease Amnestic disorder MONDO C0002625 MONDO:0001152 17 Apr 2020 Disease Amnionitis MONDO C0002631 MONDO:0020710 17 Apr 2020 Disease Amniotic band syndrome C0002636 16 Feb 2016 Disease Amniotic constriction ring Human Phenotype Ontology C1527388 HP:0009775 16 Feb 2016 Finding Amniotic constriction rings of arms Human Phenotype Ontology C4023809 HP:0010483 16 Feb 2016 Finding Amniotic constriction rings of legs Human Phenotype Ontology C4023804 HP:0010495 16 Feb 2016 Finding Amniotic Sheet Human Phenotype Ontology C4280779 HP:0030763 02 Apr 2017 Finding Amobarbital, deficient n-hydroxylation of NCBI curation C1859816 204800 16 Feb 2016 Disease Amoebiasis due to free-living amoebae MONDO CN271540 MONDO:0019036 04 Jun 2020 Infectious disease Amoxapine Response CN282538 17 Jun 2020 Pharmacological response Amphetamine abuse MONDO C0236807 MONDO:0003969 17 Apr 2020 Disease Amphetamine Response CN282539 17 Jun 2020 Pharmacological response Ampola syndrome 16 Feb 2016 Disease Ampulla of vater adenocarcinoma MONDO C1332243 MONDO:0002670 17 Apr 2020 Disease Ampulla of vater adenosquamous carcinoma MONDO C1332245 MONDO:0003553 17 Apr 2020 Disease Ampulla of vater cancer MONDO C0153454 MONDO:0000919 17 Apr 2020 Disease Ampulla of Vater carcinoma Human Phenotype Ontology C0262401 HP:0031524 04 Apr 2018 Finding Ampulla of vater clear cell adenocarcinoma MONDO C1332246 MONDO:0003388 17 Apr 2020 Disease Ampulla of vater mucinous adenocarcinoma MONDO C1332248 MONDO:0002736 17 Apr 2020 Disease Ampulla of vater neoplasm MONDO C0345916 MONDO:0000921 17 Apr 2020 Disease Ampulla of vater small cell neuroendocrine carcinoma MONDO C1332250 MONDO:0004117 17 Apr 2020 Disease Ampulla of vater squamous cell carcinoma MONDO C1332251 MONDO:0003490 17 Apr 2020 Disease Ampullary signet ring cell adenocarcinoma MONDO C1332249 MONDO:0002669 17 Apr 2020 Disease Amusia MONDO C0234497 MONDO:0000662 17 Apr 2020 Disease Amyelia Human Phenotype Ontology C0266510 HP:0100566 16 Feb 2016 Finding Amyloid Cardiomyopathy, Transthyretin-related NCBI curation C3151471 16 Feb 2016 Disease Amyloid deposition in the vitreous humor Human Phenotype Ontology C4024784 HP:0007841 16 Feb 2016 Finding Amyloid neuropathy 16 Feb 2016 Disease Amyloidogenic transthyretin amyloidosis NCBI curation C2751492 105210 16 Feb 2016 Disease Amyloidosis Human Phenotype Ontology C0002726 HP:0011034 16 Feb 2016 Finding Amyloidosis Beta2M 16 Feb 2016 Disease Amyloidosis bronchopulmonary 16 Feb 2016 Disease Amyloidosis cutis dyschromia MONDO C4554601 MONDO:0017906 17 Apr 2020 Disease Amyloidosis nodular localized cutaneous 16 Feb 2016 Disease Amyloidosis of gingiva and conjunctiva, with mental retardation MONDO C1859815 MONDO:0008776 204850 22 Apr 2020 Disease Amyloidosis of peripheral nerves Human Phenotype Ontology C4022162 HP:0100292 16 Feb 2016 Finding Amyloidosis Portuguese type 16 Feb 2016 Disease Amyloidosis, cardiac and cutaneous NCBI curation C4015843 16 Feb 2016 Disease AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MODIFIER OF 16 Feb 2016 Disease AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED NCBI curation C3151470 16 Feb 2016 Disease Amyloidosis, primary localized cutaneous, 2 NCBI curation C3151404 613955 16 Feb 2016 Disease AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3 OMIM C4554421 617920 617920 29 Mar 2018 Disease Amyopathic dermatomyositis C0406645 16 Feb 2016 Disease Amyoplasia Human Phenotype Ontology C0432185 HP:0003634 16 Feb 2016 Disease Amyoplasia mandibulofacial dysostosis 16 Feb 2016 Disease Amyotonia congenita C0002735 205000 16 Feb 2016 Disease Amyotrophic dystonic paraplegia NCBI curation C1862956 105300 16 Feb 2016 Disease Amyotrophic lateral sclerosis OMIM phenotypic series C0002736 PS105400 16 Feb 2016 Disease Amyotrophic lateral sclerosis Human Phenotype Ontology C0002736 HP:0007354 16 Feb 2016 Disease Amyotrophic lateral sclerosis 1, autosomal recessive NCBI curation C3542025 16 Feb 2016 Disease Amyotrophic lateral sclerosis 10, with or without FTD CN260033 18 Jun 2019 Disease Amyotrophic lateral sclerosis 13 NCBI curation C3149907 16 Feb 2016 Disease Amyotrophic lateral sclerosis 14 without frontotemporal dementia NCBI curation C3152097 15 Apr 2018 Disease Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia NCBI curation C3151403 613954 16 Feb 2016 Disease Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia NCBI curation C3275459 300857 16 Feb 2016 Disease Amyotrophic lateral sclerosis 16, juvenile NCBI curation C3280587 614373 16 Feb 2016 Disease Amyotrophic lateral sclerosis 17 NCBI curation C1836076 614696 16 Feb 2016 Disease Amyotrophic lateral sclerosis 18 NCBI curation C3553719 614808 16 Feb 2016 Disease Amyotrophic lateral sclerosis 19 NCBI curation C3715155 615515 16 Feb 2016 Disease Amyotrophic lateral sclerosis 20 NCBI curation C3715156 615426 16 Feb 2016 Disease Amyotrophic lateral sclerosis 21 NCBI curation C3807521 606070 26 Dec 2017 Disease Amyotrophic lateral sclerosis 22 with frontotemporal dementia NCBI curation C4016414 26 May 2016 Disease Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia NCBI curation C4015512 616208 16 Feb 2016 Disease Amyotrophic lateral sclerosis 6, autosomal recessive NCBI curation C2750729 16 Feb 2016 Disease Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 NCBI curation C3888102 105550 05 Dec 2016 Disease Amyotrophic lateral sclerosis type 1 NCBI curation C1862939 105400 16 Feb 2016 Disease Amyotrophic lateral sclerosis type 10 C2677565 612069 16 Feb 2016 Disease Amyotrophic lateral sclerosis type 11 C2675491 612577 16 Feb 2016 Disease Amyotrophic lateral sclerosis type 12 NCBI curation C3150692 613435 16 Feb 2016 Disease Amyotrophic lateral sclerosis type 2 C1859807 205100 16 Feb 2016 Disease Amyotrophic lateral sclerosis type 23 MONDO C4693381 MONDO:0027694 617839 22 Apr 2020 Disease Amyotrophic lateral sclerosis type 3 C1847735 606640 16 Feb 2016 Disease Amyotrophic lateral sclerosis type 4 C1865409 602433 16 Feb 2016 Disease Amyotrophic lateral sclerosis type 5 NCBI curation C1865864 602099 16 Feb 2016 Disease Amyotrophic lateral sclerosis type 6 C1842675 608030 16 Feb 2016 Disease Amyotrophic lateral sclerosis type 7 C1842674 608031 16 Feb 2016 Disease Amyotrophic lateral sclerosis type 8 C1837728 608627 16 Feb 2016 Disease Amyotrophic lateral sclerosis type 9 C2678468 611895 16 Feb 2016 Disease Amyotrophic lateral sclerosis with polyglucosan bodies NCBI curation C1859805 205250 16 Feb 2016 Disease Amyotrophic Lateral Sclerosis with Sensory Neuropathy 21 May 2020 Disease Amyotrophic lateral sclerosis, autosomal recessive NCBI curation 16 Feb 2016 Disease Amyotrophic Lateral Sclerosis, Dominant CN239175 02 Dec 2016 Disease Amyotrophic lateral sclerosis, juvenile, with dementia NCBI curation C1859806 205200 16 Feb 2016 Disease Amyotrophic Lateral Sclerosis, Recessive CN239196 02 Dec 2016 Disease Amyotrophic lateral sclerosis, sporadic NCBI curation 16 Feb 2016 Disease Amyotrophic lateral sclerosis, susceptibility to NCBI curation C4016314 16 Feb 2016 Disease AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 OMIM C4693523 617892 617892 06 Mar 2018 Disease AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25 OMIM C4693609 617921 617921 30 Mar 2018 Disease Amyotrophic lateral sclerosis, typical NCBI curation C1854059 16 Feb 2016 Disease Amyotrophic lateral sclerosis-parkinsonism-dementia complex MONDO C0543859 MONDO:0007104 105500 17 Apr 2020 Disease Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to NCBI curation 16 Feb 2016 Disease Amyotrophic Lateral Sclerosis/Frontotemporal Dementia CN239211 02 Dec 2016 Disease Amyotrophy involving the shoulder musculature Human Phenotype Ontology C4025771 HP:0001465 16 Feb 2016 Finding Amyotrophy of ankle musculature Human Phenotype Ontology C4024604 HP:0009031 16 Feb 2016 Finding Amyotrophy of the musculature of the pelvis Human Phenotype Ontology C4025581 HP:0003665 16 Feb 2016 Finding Amyotrophy, hereditary neuralgic NCBI curation C1834304 162100 26 May 2016 Disease Amytrophic lateral sclerosis 23 CN260034 18 Jun 2019 Disease Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia CN235880 03 Apr 2016 Disease Anaerobic bacteria infectious disease MONDO C0854328 MONDO:0024389 04 Jun 2020 Infectious disease Anaerobic balanitis MONDO C0403764 MONDO:0024392 04 Jun 2020 Infectious disease Anaerobic cellulitis MONDO C0241828 MONDO:0024414 04 Jun 2020 Infectious disease Anaerobic meningitis MONDO C0854214 MONDO:0002000 04 Jun 2020 Infectious disease Anaerobic pneumonia MONDO C1443976 MONDO:0004649 04 Jun 2020 Infectious disease Anagen effluvium Human Phenotype Ontology C0263519 HP:0025469 04 Apr 2018 Finding anal and rectal conditions 14 Mar 2019 Finding Anal atresia, hypospadias, and penoscrotal inversion NCBI curation C1865208 602553 16 Feb 2016 Disease Anal canal adenocarcinoma Human Phenotype Ontology C1332259 HP:0030439 16 Feb 2016 Finding Anal canal cancer MONDO C0153445 MONDO:0000405 17 Apr 2020 Disease Anal canal carcinoma in situ MONDO MONDO:0004707 17 Apr 2020 Disease Anal canal neoplasm Human Phenotype Ontology C0345883 HP:0030437 16 Feb 2016 Finding Anal canal neuroendocrine neoplasm MONDO C1332273 MONDO:0003504 17 Apr 2020 Disease Anal canal Paget disease MONDO C1332261 MONDO:0004468 17 Apr 2020 Disease Anal canal squamous carcinoma Human Phenotype Ontology C4024982 HP:0006763 16 Feb 2016 Finding Anal canal squamous cell carcinoma Human Phenotype Ontology C1332262 HP:0030438 16 Feb 2016 Finding Anal cancer 16 Feb 2016 Disease Anal carcinoma MONDO C0279637 MONDO:0003199 17 Apr 2020 Disease Anal fissure Human Phenotype Ontology C0016167 HP:0012390 16 Feb 2016 Finding Anal fistula Human Phenotype Ontology C0205929 HP:0010447 16 Feb 2016 Finding Anal fistula (disease) MONDO MONDO:0000754 17 Apr 2020 Disease Anal gland adenocarcinoma MONDO C1266027 MONDO:0004266 17 Apr 2020 Disease Anal gland neoplasm MONDO C0002757 MONDO:0003045 17 Apr 2020 Disease Anal margin basal cell carcinoma Human Phenotype Ontology C1332269 HP:0030443 16 Feb 2016 Finding Anal margin carcinoma MONDO C0349534 MONDO:0002941 17 Apr 2020 Disease Anal margin melanoma Human Phenotype Ontology C4072941 HP:0030444 16 Feb 2016 Finding Anal margin neoplasm Human Phenotype Ontology C2064234 HP:0030440 16 Feb 2016 Finding Anal margin Paget's disease Human Phenotype Ontology C1332270 HP:0030441 16 Feb 2016 Finding Anal margin squamous cell carcinoma Human Phenotype Ontology C1412037 HP:0030442 16 Feb 2016 Finding Anal melanoma MONDO C0349538 MONDO:0006081 17 Apr 2020 Disease Anal mucinous adenocarcinoma MONDO C1332272 MONDO:0002734 17 Apr 2020 Disease Anal mucosal leukoplakia Human Phenotype Ontology C1844632 HP:0005212 16 Feb 2016 Finding Anal Paget disease MONDO C1332274 MONDO:0002651 17 Apr 2020 Disease Anal pain Human Phenotype Ontology C0238637 HP:0500005 04 Apr 2018 Finding Anal polyp MONDO C0267573 MONDO:0060766 17 Apr 2020 Disease Anal spasm MONDO C0152167 MONDO:0001274 17 Apr 2020 Disease Anal sphincter dysplasia C1862936 105563 16 Feb 2016 Disease Anal sphincter myopathy, internal NCBI curation C1862935 105565 16 Feb 2016 Disease Anal squamous cell carcinoma MONDO C1412036 MONDO:0006082 17 Apr 2020 Disease Anal stenosis Human Phenotype Ontology C0262374 HP:0002025 16 Feb 2016 Finding Anal verrucous carcinoma MONDO C1332278 MONDO:0004131 04 Jun 2020 Infectious disease Analbuminemia NCBI curation C0878666 616000 16 Feb 2016 Disease Analbuminemia baghdad NCBI curation C4015776 11 Nov 2018 Disease Anaphylactic shock Human Phenotype Ontology C4316895 HP:0100845 16 Feb 2016 Finding Anaphylactoid purpura CN218324 16 Feb 2016 Finding Anaphylotoxin inactivator deficiency NCBI curation C0398782 212070 16 Feb 2016 Disease Anaplasmataceae infectious disease MONDO CN281658 MONDO:0006922 04 Jun 2020 Infectious disease Anaplasmosis MONDO C0002797 MONDO:0025303 04 Jun 2020 Infectious disease Anaplastic cancer MONDO C1332287 MONDO:0020633 17 Apr 2020 Disease Anaplastic ependymoma C0280788 16 Feb 2016 Disease Anaplastic ganglioglioma C0431112 16 Feb 2016 Disease Anaplastic large cell lymphoma MONDO C0206180 MONDO:0020325 22 Apr 2020 Disease Anaplastic meningioma MONDO MONDO:0020635 17 Apr 2020 Disease Anaplastic oligoastrocytoma C0431108 16 Feb 2016 Disease Anaplastic oligodendroglioma 16 Feb 2016 Disease Anaplastic small cell lymphoma 16 Feb 2016 Disease Anaplastic/large cell medulloblastoma MONDO C4330531 MONDO:0016709 17 Apr 2020 Disease Anarthria Human Phenotype Ontology C0234517 HP:0002425 16 Feb 2016 Finding Anasarca Human Phenotype Ontology C0151603 HP:0012050 16 Feb 2016 Finding anastrozole response - Efficacy PharmGKB 1446897383PA448432 06 Jul 2018 Pharmacological response Anatomical narrow angle borderline glaucoma MONDO MONDO:0001686 17 Apr 2020 Disease Anauxetic dysplasia OMIM phenotypic series C1846796 PS607095 02 Jul 2017 Disease Anauxetic dysplasia 1 NCBI curation C4551965 607095 02 Jul 2017 Disease Anauxetic dysplasia 2 NCBI curation C4479357 617396 20 Jun 2017 Disease ANAUXETIC DYSPLASIA 3 OMIM CN280852 618853 618853 25 Apr 2020 Disease Ancylostomiasis C0002831 16 Feb 2016 Infectious disease Andersen Tawil syndrome C1563715 170390 16 Feb 2016 Disease Androgen deprivation therapy response 15 Mar 2019 Pharmacological response Androgen insensitivity syndrome, mild CN037063 16 Feb 2016 Disease Androgen insensitivity, partial, with breast cancer NCBI curation C4016581 16 Feb 2016 Disease Androgen insufficiency Human Phenotype Ontology C0342527 HP:0008226 16 Feb 2016 Finding Androgen resistance syndrome NCBI curation C0039585 300068 09 Aug 2017 Disease Androgen-binding protein deficiency CN236384 29 Apr 2016 Disease Androstenone, ability to smell NCBI curation C1862934 105570 16 Feb 2016 Disease Anejaculation Human Phenotype Ontology C0278106 HP:0012879 16 Feb 2016 Finding Anemia Human Phenotype Ontology C0002871 HP:0001903 16 Feb 2016 Finding Anemia (disease) MONDO MONDO:0002280 17 Apr 2020 Disease Anemia due to chronic disorder MONDO C0002873 MONDO:0020725 17 Apr 2020 Disease Anemia due to enzyme disorder MONDO C0494226 MONDO:0020584 17 Apr 2020 Disease Anemia due to erythrocyte enzyme disorder MONDO C4329304 MONDO:0020585 17 Apr 2020 Disease Anemia due to reduced life span of red cells Human Phenotype Ontology C4021112 HP:0011895 16 Feb 2016 Finding Anemia of inadequate production Human Phenotype Ontology C0678199 HP:0010972 16 Feb 2016 Finding Anemia of prematurity MONDO C0158996 MONDO:0001239 17 Apr 2020 Disease Anemia without thromobocytopenia, X-linked NCBI curation C3550856 300835 16 Feb 2016 Disease Anemia, congenital hypoplastic, with multiple congenital anomalies/mental retardation syndrome NCBI curation C1858537 604315 16 Feb 2016 Disease Anemia, hereditary sideroblastic, late-onset NCBI curation 16 Feb 2016 Disease Anemia, hereditary sideroblastic, pyridoxine refractory NCBI curation 16 Feb 2016 Disease Anemia, hypochromic microcytic, with iron overload 1 NCBI curation C3806153 206100 21 Jan 2020 Disease Anemia, neonatal hemolytic, fatal and near-fatal NCBI curation C4016380 16 Feb 2016 Disease Anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane NCBI curation C1859786 206300 16 Feb 2016 Disease Anemia, nonspherocytic hemolytic, due to G6PD deficiency NCBI curation C2720289 300908 16 Feb 2016 Disease Anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism NCBI curation C1859785 206400 16 Feb 2016 Disease ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL CN244559 27 Apr 2018 Disease Anemia, sideroblastic, 1 NCBI curation C4551511 300751 08 Feb 2020 Disease Anemia, sideroblastic, 2, pyridoxine-refractory NCBI curation C4225425 205950 08 Feb 2020 Disease Anemia, sideroblastic, 4 NCBI curation C4225428 182170 24 Aug 2016 Disease Anemia, sideroblastic, pyridoxine-responsive, autosomal recessive NCBI curation C1859787 206000 16 Feb 2016 Disease Anemic pallor Human Phenotype Ontology C4025811 HP:0001017 16 Feb 2016 Finding Anencephalus C0002902 206500 16 Feb 2016 Disease Anencephaly Human Phenotype Ontology C2021655 HP:0002323 16 Feb 2016 Finding Anencephaly and a large skull defect CN238702 19 Oct 2016 Finding Anesthesiology CN282540 17 Jun 2020 Pharmacological response Anesthetic-induced rhabdomylosis Human Phenotype Ontology C4023356 HP:0011439 16 Feb 2016 Finding Aneuploidy NCBI curation 16 Feb 2016 Disease Aneurysm of descending aorta NCBI curation C0856750 17 Oct 2018 Finding Aneurysm of interventricular septum NCBI curation C1387721 105805 16 Feb 2016 Disease Aneurysm of sinus of Valsalva C2239253 16 Feb 2016 Disease Aneurysm or dilatation of ascending aorta MONDO MONDO:0019821 17 Apr 2020 Disease Aneurysm, intracranial berry, 1 NCBI curation C1862932 105800 16 Feb 2016 Disease Aneurysm, intracranial berry, 10 NCBI curation C2675484 612587 16 Feb 2016 Disease Aneurysm, intracranial berry, 11 NCBI curation C3280275 614252 16 Feb 2016 Disease ANEURYSM, INTRACRANIAL BERRY, 12 OMIM C5231484 618734 618734 12 Jan 2020 Disease Aneurysm, intracranial berry, 3 NCBI curation C1836757 609122 16 Feb 2016 Disease Aneurysm, intracranial berry, 4 NCBI curation C1857749 610213 16 Feb 2016 Disease Aneurysm, intracranial berry, 5 NCBI curation C1835857 300870 16 Feb 2016 Disease Aneurysm, intracranial berry, 6 NCBI curation C2678469 611892 16 Feb 2016 Disease Aneurysm, intracranial berry, 7 NCBI curation C2677337 612161 16 Feb 2016 Disease Aneurysm, intracranial berry, 8 NCBI curation C2677336 612162 16 Feb 2016 Disease Aneurysm, intracranial berry, 9 NCBI curation C2675485 612586 16 Feb 2016 Disease Aneurysmal bone cyst Human Phenotype Ontology C0152244 HP:0012063 606179 19 Mar 2018 Disease Angel-shaped phalango-epiphyseal dysplasia MONDO C1739384 MONDO:0007114 105835 22 Apr 2020 Disease Angelman syndrome C0162635 105830 16 Feb 2016 Disease Angelman syndrome due to a point mutation MONDO CN237441 MONDO:0018461 17 Apr 2020 Disease Angelman syndrome due to imprinting defect in 15q11-q13 MONDO CN237442 MONDO:0018462 17 Apr 2020 Disease Angelman syndrome due to maternal 15q11q13 deletion MONDO CN207116 MONDO:0020302 17 Apr 2020 Disease Angelman syndrome due to paternal uniparental disomy of chromosome 15 MONDO CN207117 MONDO:0020303 17 Apr 2020 Disease Angelman syndrome-like NCBI curation CN128785 16 Feb 2016 Disease Angelucci syndrome MONDO C0001309 MONDO:0001224 17 Apr 2020 Disease anger 05 Sep 2019 Finding Angina pectoris Human Phenotype Ontology C0002962 HP:0001681 16 Feb 2016 Finding Angiocentric glioma MONDO C2363903 MONDO:0016705 17 Apr 2020 Disease Angiodysplasia MONDO C0085411 MONDO:0002322 17 Apr 2020 Disease Angiodysplasia of intestine MONDO C0267367 MONDO:0001138 17 Apr 2020 Disease Angiodysplasia of stomach MONDO C0744273 MONDO:0024310 17 Apr 2020 Disease Angioedema Human Phenotype Ontology C0002994 HP:0100665 16 Feb 2016 Finding Angioedema induced by ACE inhibitors, susceptibility to NCBI curation C3806711 300909 16 Feb 2016 Disease Angioedema, hereditary, autosomal recessive NCBI curation CN970542 16 Feb 2016 Disease Angiofibroma, somatic NCBI curation C4017331 16 Feb 2016 Disease Angiofibromas Human Phenotype Ontology C0206731 HP:0010615 16 Feb 2016 Finding Angiofollicular ganglionic hyperplasia 16 Feb 2016 Disease Angiofollicular lymph hyperplasia 16 Feb 2016 Disease Angioid streaks Human Phenotype Ontology C0002982 HP:0001102 607140 17 Apr 2020 Disease Angioid streaks MONDO C0002982 MONDO:0011782 607140 17 Apr 2020 Disease Angioid streaks of choroid MONDO C0002983 MONDO:0004882 17 Apr 2020 Disease Angioimmunoblastic T-cell lymphoma MONDO C0020981 MONDO:0004977 17 Apr 2020 Disease Angiokeratoma Human Phenotype Ontology C0002985 HP:0001014 16 Feb 2016 Finding Angiokeratoma circumscriptum MONDO C0263638 MONDO:0003713 17 Apr 2020 Disease Angiokeratoma corporis diffusum with arteriovenous fistulas NCBI curation C1838141 600419 16 Feb 2016 Disease Angiokeratoma mental retardation coarse face 16 Feb 2016 Disease Angiokeratoma of Fordyce MONDO C0263639 MONDO:0003954 17 Apr 2020 Disease Angiokeratoma of mibelli MONDO C0263640 MONDO:0003712 17 Apr 2020 Disease Angiokeratoma of scrotum MONDO MONDO:0020597 17 Apr 2020 Disease Angioleiomyoma MONDO C0206653 MONDO:0006646 17 Apr 2020 Disease Angiolipoma MONDO C0206632 MONDO:0006085 17 Apr 2020 Disease Angiolipomatosis, familial NCBI curation C1859784 206550 16 Feb 2016 Disease Angioma serpentinum Human Phenotype Ontology C4477093 HP:0025108 02 Apr 2017 Finding Angioma serpiginosum C4721404 300652 16 Feb 2016 Disease Angioma serpiginosum, autosomal dominant C1970130 106050 16 Feb 2016 Disease Angiomatoid fibrous histiocytoma NCBI curation C1266127 612160 16 Feb 2016 Disease Angiomatosis MONDO C0002992 MONDO:0024461 17 Apr 2020 Disease Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert C1859783 206570 16 Feb 2016 Disease Angiomatosis, leptomeningeal capillary venous 16 Feb 2016 Disease Angiomatous lymphoid hamartoma 16 Feb 2016 Disease Angiomatous meningioma MONDO C0334608 MONDO:0003918 17 Apr 2020 Disease Angiomyomatous Hamartoma C2959445 16 Feb 2016 Disease Angioosteohypertrophic syndrome MONDO C0022739 MONDO:0007864 149000 27 May 2020 Disease Angioosteohypotrophic syndrome MONDO C4707561 MONDO:0019156 17 Apr 2020 Disease Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps NCBI curation C2673195 611773 16 Feb 2016 Disease Angiosarcoma Human Phenotype Ontology C0018923 HP:0200058 16 Feb 2016 Disease Angiosarcoma of the liver 16 Feb 2016 Disease Angiosarcoma of the scalp 16 Feb 2016 Disease Angiostrongyliasis C0392662 16 Feb 2016 Infectious disease ANGIOTENSIN I-CONVERTING ENZYME INSERTION/DELETION POLYMORPHISM NCBI curation 16 Feb 2016 Finding Angiotensin i-converting enzyme, benign serum increase NCBI curation C1862874 16 Feb 2016 Disease Angiotensin i-converting enzyme, plasma level of NCBI curation 16 Feb 2016 Disease Angiotensin renin aldosterone hypertension 16 Feb 2016 Disease Angle closure glaucoma Human Phenotype Ontology C0017605 HP:0012109 04 Apr 2018 Finding Angora hair nevus MONDO C4751601 MONDO:0018258 17 Apr 2020 Disease Angular blepharoconjunctivitis MONDO C0155149 MONDO:0002306 17 Apr 2020 Disease Angular cheilitis Human Phenotype Ontology C0221237 HP:0030318 16 Feb 2016 Finding Angular vision problem 20 Jun 2019 Finding Angulated antihelix Human Phenotype Ontology C4023446 HP:0011236 16 Feb 2016 Finding Angulated forearm bones Human Phenotype Ontology C4025483 HP:0003954 16 Feb 2016 Finding Angulated humerus Human Phenotype Ontology C4025546 HP:0003863 16 Feb 2016 Finding Anhaptoglobinemia NCBI curation C3279786 614081 16 Feb 2016 Disease Anhedonia Human Phenotype Ontology C0178417 HP:0012154 16 Feb 2016 Finding Anhidrosis Human Phenotype Ontology C4225670 HP:0000970 206600 04 Apr 2018 Disease Anhidrosis, isolated, with normal sweat glands NCBI curation C1862871 106190 24 Aug 2016 Disease Anhidrotic ectodermal dysplasia Human Phenotype Ontology CN006554 HP:0007476 16 Feb 2016 Finding Anhidrotic ectodermal dysplasia with immune deficiency NCBI curation CN043443 16 Feb 2016 Disease anhydramnios C0730379 19 Oct 2016 Finding ANIB2 OMIM C1837894 608542 608542 17 Apr 2020 Disease ANIB2 MONDO C1837894 MONDO:0012053 608542 17 Apr 2020 Disease Animal phobia MONDO C0233711 MONDO:0003727 17 Apr 2020 Disease Aniridia - intellectual disability syndrome MONDO C2931243 MONDO:0015199 17 Apr 2020 Disease Aniridia 1 NCBI curation C0344542 106210 31 Oct 2016 Disease Aniridia 2 NCBI curation C0344543 617141 20 Jun 2017 Disease Aniridia 3 NCBI curation C4310695 617142 20 Jun 2017 Disease Aniridia ataxia renal agenesis psychomotor retardation 16 Feb 2016 Disease Aniridia mental retardation syndrome 16 Feb 2016 Disease Aniridia ptosis mental retardation obesity familial 16 Feb 2016 Disease Aniridia, atypical NCBI curation C4017066 16 Feb 2016 Disease Aniridia, Cerebellar Ataxia, And Intellectual Disability CN239197 02 Dec 2016 Disease aniridia, cerebellar hypoplasia CN235144 16 Feb 2016 Finding Aniridia, microcornea, and spontaneously reabsorbed cataract NCBI curation C1862867 106230 16 Feb 2016 Disease Aniridia-absent patella syndrome MONDO C1862868 MONDO:0007120 106220 17 Apr 2020 Disease Aniridia-ptosis-intellectual disability-familial obesity syndrome MONDO C4303736 MONDO:0015198 17 Apr 2020 Disease Aniridia-renal agenesis-psychomotor retardation syndrome MONDO C1859782 MONDO:0008796 206750 17 Apr 2020 Disease Anisakiasis C0162576 16 Feb 2016 Infectious disease Aniseikonia MONDO C0003078 MONDO:0000309 17 Apr 2020 Disease Anismus MONDO C0267601 MONDO:0000480 17 Apr 2020 Disease Anisocoria Human Phenotype Ontology C0003079 HP:0009916 106240 16 Feb 2016 Finding Anisocytosis Human Phenotype Ontology C0221278 HP:0011273 16 Feb 2016 Finding Anisomastia MONDO C1854013 MONDO:0011590 605746 17 Apr 2020 Disease Anisometropia Human Phenotype Ontology C0003081 HP:0012803 16 Feb 2016 Finding Anisometropic Amblyopia C0339696 18 Jan 2019 Finding Anisopoikilocytosis Human Phenotype Ontology C2675920 HP:0004823 16 Feb 2016 Finding Anisospondyly Human Phenotype Ontology C1857101 HP:0002879 16 Feb 2016 Finding Anithrombin III deficiency 15 Mar 2018 Finding ANKH-Related Disorders 23 May 2019 Disease Ankle clonus Human Phenotype Ontology C0238651 HP:0011448 16 Feb 2016 Finding Ankle contracture Human Phenotype Ontology C1837407 HP:0006466 16 Feb 2016 Finding Ankle defects short stature 16 Feb 2016 Disease Ankle injury MONDO MONDO:0043895 17 Apr 2020 Disease Ankle pain Human Phenotype Ontology C0238656 HP:0030840 02 Apr 2017 Finding Ankle swelling Human Phenotype Ontology C0235439 HP:0001785 16 Feb 2016 Finding Ankle weakness Human Phenotype Ontology C2228039 HP:0031374 04 Apr 2018 Finding ANKRD1-related dilated cardiomyopathy NCBI curation CN119551 16 Feb 2016 Disease Ankyloblepharon Human Phenotype Ontology C0339182 HP:0009755 16 Feb 2016 Finding Ankyloblepharon filiforme adnatum and cleft palate NCBI curation C1862866 106250 16 Feb 2016 Disease Ankyloblepharon filiforme adnatum cleft palate 16 Feb 2016 Disease Ankyloblepharon filiforme imperforate anus 16 Feb 2016 Disease Ankyloblepharon filiforme-imperforate anus syndrome MONDO CN197555 MONDO:0015201 17 Apr 2020 Disease Ankyloblepharon-ectodermal defects, cleft lip/palate NCBI curation 16 Feb 2016 Disease Ankyloglossia heterochromia clasped thumbs 16 Feb 2016 Disease Ankylosing spondylitis NCBI curation C1862852 106300 06 Jul 2018 Disease Ankylosing vertebral hyperostosis with tylosis NCBI curation C0020498 106400 24 Aug 2016 Disease Ankylosis Human Phenotype Ontology C0003090 HP:0031013 04 Apr 2018 Finding Ankylosis (disease) MONDO MONDO:0002257 17 Apr 2020 Disease Ankylosis of feet small joints Human Phenotype Ontology C4024732 HP:0008090 16 Feb 2016 Finding Ankylosis of many deciduous teeth CN236313 13 Apr 2016 Finding Ankylosis of second deciduous molars CN236314 13 Apr 2016 Finding Ankylosis of tooth C0155930 157950 16 Feb 2016 Disease Annular atrophic lichen planus MONDO C4304037 MONDO:0016771 17 Apr 2020 Disease Annular constricting bands 16 Feb 2016 Disease Annular cutaneous lesion Human Phenotype Ontology C4476833 HP:0025528 04 Apr 2018 Finding Annular erythema C0234906 106500 16 Feb 2016 Disease Annular lichen planus MONDO C0406363 MONDO:0016772 17 Apr 2020 Disease Annular pancreas Human Phenotype Ontology C0149955 HP:0001734 167750 16 Feb 2016 Disease ANO5-Related Disorders CN239193 02 Dec 2016 Disease ANO5-Related Muscle Diseases CN180644 16 Feb 2016 Disease Anodontia Human Phenotype Ontology C0399352 HP:0000674 16 Feb 2016 Finding Anodontia of permanent dentition NCBI curation C1290511 206780 16 Feb 2016 Disease Anogenital human papillomavirus infection MONDO C0554632 MONDO:0005647 04 Jun 2020 Infectious disease anomalies of jaw size 05 Sep 2019 Finding Anomalous branches of internal carotid artery Human Phenotype Ontology C1847886 HP:0005314 16 Feb 2016 Finding Anomalous coronary artery arising from the opposite sinus Human Phenotype Ontology C4476814 HP:0025503 04 Apr 2018 Finding Anomalous insertion of papillary muscle directly into anterior mitral leaflet Human Phenotype Ontology C4476782 HP:0025446 04 Apr 2018 Finding Anomalous muscle bundle of the right ventricle Human Phenotype Ontology C4280792 HP:0030740 02 Apr 2017 Finding Anomalous origin of coronary artery from the pulmonary artery Human Phenotype Ontology C4023252 HP:0011637 16 Feb 2016 Finding Anomalous origin of left coronary artery from the pulmonary artery Human Phenotype Ontology C1735886 HP:0011638 16 Feb 2016 Finding Anomalous origin of left pulmonary artery from ascending aorta Human Phenotype Ontology C0345040 HP:0011661 16 Feb 2016 Finding Anomalous origin of left subclavian artery Human Phenotype Ontology C4531246 HP:0031253 04 Apr 2018 Finding Anomalous origin of one pulmonary artery from ascending aorta Human Phenotype Ontology C4021134 HP:0011660 16 Feb 2016 Finding Anomalous origin of right coronary artery from the pulmonary artery Human Phenotype Ontology C3472165 HP:0011639 16 Feb 2016 Finding Anomalous origin of right pulmonary artery from ascending aorta Human Phenotype Ontology C0345037 HP:0005143 16 Feb 2016 Finding Anomalous origin of the circumflex artery from the right sinus of Valsalva Human Phenotype Ontology C4476815 HP:0025505 04 Apr 2018 Finding Anomalous origin of the left circumflex artery from the right coronary artery Human Phenotype Ontology C0265900 HP:0031537 04 Apr 2018 Finding Anomalous pulmonary venous return Human Phenotype Ontology C4551905 HP:0010772 04 Apr 2018 Finding Anomalous rib insertion to vertebrae Human Phenotype Ontology C1861704 HP:0006593 16 Feb 2016 Finding Anomalous splenoportal venous system Human Phenotype Ontology C4025236 HP:0005201 16 Feb 2016 Finding Anomalous tracheal cartilage Human Phenotype Ontology C1863406 HP:0004468 16 Feb 2016 Finding Anomalous trichromacy Human Phenotype Ontology C4023316 HP:0011519 16 Feb 2016 Finding Anomaly of lower limb diaphyses Human Phenotype Ontology C4022767 HP:0012699 16 Feb 2016 Finding Anomaly of puberty or/and menstrual cycle MONDO CN226756 MONDO:0015860 17 Apr 2020 Disease Anomaly of puberty or/and menstrual cycle of genetic origin MONDO CN226832 MONDO:0016072 17 Apr 2020 Disease Anomaly of sex chromosome NCBI curation C0036868 16 Feb 2016 Disease Anomaly of the limb diaphyses Human Phenotype Ontology C4021594 HP:0006504 16 Feb 2016 Finding Anomaly of the secretory and excretory apparatus of the lacrimal system MONDO MONDO:0020196 17 Apr 2020 Disease Anomaly of the tricuspid subvalvular apparatus MONDO CN227696 MONDO:0019816 17 Apr 2020 Disease Anomaly of the tricuspid valve chordae MONDO CN265957 MONDO:0020396 07 Jun 2020 Disease Anomaly of the upper limb diaphyses Human Phenotype Ontology C4021389 HP:0009808 16 Feb 2016 Finding Anomia Human Phenotype Ontology C0003113 HP:0030784 02 Apr 2017 Finding Anonychia Human Phenotype Ontology C3277900 HP:0001798 206800 16 Feb 2016 Disease Anonychia with flexural pigmentation NCBI curation C1862844 106750 16 Feb 2016 Disease Anonychia, total, with microcephaly NCBI curation C1846617 607214 16 Feb 2016 Disease Anonychia-ectrodactyly MONDO C1862843 MONDO:0007132 106900 22 Apr 2020 Disease Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly C1862842 106990 16 Feb 2016 Disease Anoperineal fistula Human Phenotype Ontology C1835798 HP:0005218 16 Feb 2016 Finding Anophtalmia CN262503 20 Jun 2017 Finding Anophthalmia NCBI curation C0003119 16 Feb 2016 Disease Anophthalmia - microphthalmia NCBI curation CN235161 16 Feb 2016 Finding Anophthalmia cleft lip palate hypothalamic disorder 16 Feb 2016 Disease Anophthalmia cleft palate micrognathia 16 Feb 2016 Disease Anophthalmia esophageal atresia cryptorchidism 16 Feb 2016 Disease Anophthalmia microcephaly hypogonadism 16 Feb 2016 Disease Anophthalmia Microcephaly Psychomotor delay CN235148 16 Feb 2016 Finding Anophthalmia or microphthalmia, retinal dystrophy and/or myopia associated with brain anomalies 16 Feb 2016 Disease Anophthalmia plus syndrome C1833339 600776 16 Feb 2016 Disease Anophthalmia short stature obesity 16 Feb 2016 Disease Anophthalmia, Fallot teralogy, mental retardation CN235149 16 Feb 2016 Finding Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome MONDO C4304035 MONDO:0015230 17 Apr 2020 Disease Anophthalmia-microphthalmia syndrome Orphanet CN120488 ORPHA98555 01 Sep 2017 Disease Anophthalmia/microphthalmia-esophageal atresia syndrome MONDO C1859773 MONDO:0008799 206900 17 Apr 2020 Disease Anorchism Human Phenotype Ontology C1261504 HP:0030869 02 Apr 2017 Finding Anorectal anomaly Human Phenotype Ontology C3495676 HP:0012732 107100 16 Feb 2016 Finding Anorectal stricture MONDO MONDO:0001177 17 Apr 2020 Disease Anorexia Human Phenotype Ontology C0003123 HP:0002039 16 Feb 2016 Finding Anorexia nervosa MONDO C0003125 MONDO:0005351 17 Apr 2020 Disease Anorexia nervosa 1 NCBI curation C1847492 606788 16 Feb 2016 Disease Anorexia nervosa 2 NCBI curation CN043357 16 Feb 2016 Disease ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 1 CN244557 27 Apr 2018 Disease Anosmia Human Phenotype Ontology C0003126 HP:0000458 301700 16 Feb 2016 Finding Anosmia for butyl mercaptan NCBI curation C1849192 270350 11 Aug 2016 Disease Anosmia for isobutyric acid NCBI curation C1859762 207000 16 Feb 2016 Disease Anosognosia MONDO C0234507 MONDO:0000663 17 Apr 2020 Disease Anotia Human Phenotype Ontology C0702139 HP:0009892 16 Feb 2016 Finding Anotia facial palsy cardiac defect 16 Feb 2016 Disease Anovulation MONDO C0003128 MONDO:0002775 17 Apr 2020 Disease Antecubital pterygium syndrome MONDO C1867439 MONDO:0008339 178200 17 Apr 2020 Disease Antegonial notching of mandible Human Phenotype Ontology C1844509 HP:0003779 16 Feb 2016 Finding Antenatal Bartter Syndrome NCBI curation CN239220 02 Dec 2016 Disease Antenatal intracerebral hemorrhage Human Phenotype Ontology C1837247 HP:0007023 16 Feb 2016 Finding Antenatal multiminicore disease with arthrogryposis multiplex congenita MONDO C1843691 MONDO:0015794 17 Apr 2020 Disease Antenatal multiminicore disease with arthrogryposis multiplex congenita Orphanet C1843691 ORPHA178148 17 Apr 2020 Disease Antepartum hemorrhage Human Phenotype Ontology C0269608 HP:0025328 02 Apr 2017 Finding Anterior atlanto-occipital dislocation Human Phenotype Ontology C4025157 HP:0005678 16 Feb 2016 Finding Anterior basal encephalocele Human Phenotype Ontology C1850961 HP:0006992 16 Feb 2016 Finding Anterior beaking of lower thoracic vertebrae Human Phenotype Ontology C4025306 HP:0004607 16 Feb 2016 Finding Anterior beaking of lumbar vertebrae Human Phenotype Ontology C4021541 HP:0008430 16 Feb 2016 Finding Anterior beaking of thoracic vertebrae Human Phenotype Ontology C4025302 HP:0004630 16 Feb 2016 Finding Anterior bowing of long bones Human Phenotype Ontology C1850644 HP:0006473 16 Feb 2016 Finding Anterior cerebral artery infarction MONDO C0751843 MONDO:0006647 17 Apr 2020 Disease Anterior cerebral artery stenosis Human Phenotype Ontology C1504567 HP:0012494 16 Feb 2016 Finding Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis MONDO C1832362 MONDO:0011078 601427 17 Apr 2020 Disease Anterior chamber cyst Human Phenotype Ontology C0271126 HP:0025311 02 Apr 2017 Finding Anterior chamber synechiae Human Phenotype Ontology C4024788 HP:0007833 16 Feb 2016 Finding Anterior clefting of vertebral bodies Human Phenotype Ontology C1849579 HP:0009761 16 Feb 2016 Finding Anterior compartment syndrome MONDO C0003152 MONDO:0006648 17 Apr 2020 Disease Anterior concavity of thoracic vertebrae Human Phenotype Ontology C1839822 HP:0004611 16 Feb 2016 Finding Anterior corneal pigmentation MONDO C0155104 MONDO:0001488 17 Apr 2020 Disease Anterior cortical cataract Human Phenotype Ontology C1857308 HP:0007795 16 Feb 2016 Finding Anterior cranial fossa meningioma MONDO C1332301 MONDO:0002997 17 Apr 2020 Disease Anterior creases of earlobe Human Phenotype Ontology C1851897 HP:0009908 128950 04 Apr 2018 Disease Anterior dislocation of lens MONDO C0155372 MONDO:0002310 17 Apr 2020 Disease Anterior displacement of the papillary muscles Human Phenotype Ontology C4476784 HP:0025448 04 Apr 2018 Finding Anterior encephalocele Human Phenotype Ontology C4024948 HP:0007035 16 Feb 2016 Finding Anterior foramen magnum meningioma MONDO C1332302 MONDO:0003868 17 Apr 2020 Disease Anterior horn disease 16 Feb 2016 Disease Anterior hypopituitarism Human Phenotype Ontology C4025821 HP:0000830 16 Feb 2016 Finding Anterior lenticonus Human Phenotype Ontology C0344262 HP:0011501 16 Feb 2016 Finding Anterior nasal diphtheria MONDO C0012553 MONDO:0020838 04 Jun 2020 Infectious disease Anterior open bite Human Phenotype Ontology C0266060 HP:0200095 16 Feb 2016 Finding Anterior open-bite malocclusion Human Phenotype Ontology C4024598 HP:0009102 16 Feb 2016 Finding Anterior optic tract meningioma MONDO C1332308 MONDO:0003858 17 Apr 2020 Disease Anterior pituitary agenesis Human Phenotype Ontology C4021249 HP:0010626 16 Feb 2016 Finding Anterior pituitary dysgenesis Human Phenotype Ontology C4023771 HP:0010625 16 Feb 2016 Finding Anterior pituitary gland disease MONDO MONDO:0024468 17 Apr 2020 Disease Anterior pituitary hypoplasia Human Phenotype Ontology C1859775 HP:0010627 16 Feb 2016 Finding Anterior pituitary insufficiency, familial 16 Feb 2016 Disease Anterior plagiocephaly Human Phenotype Ontology C4023413 HP:0011326 16 Feb 2016 Finding anterior polar cataracts CN228391 16 Feb 2016 Finding Anterior pyramidal cataract Human Phenotype Ontology C1392099 HP:0010697 16 Feb 2016 Finding Anterior radial head dislocation Human Phenotype Ontology C2674451 HP:0005084 16 Feb 2016 Finding Anterior rib cupping Human Phenotype Ontology C1846154 HP:0000907 16 Feb 2016 Finding Anterior rib punctate calcifications Human Phenotype Ontology C1859120 HP:0006619 16 Feb 2016 Finding Anterior rounding of vertebral bodies Human Phenotype Ontology C1850043 HP:0008488 16 Feb 2016 Finding Anterior sacral meningocele Human Phenotype Ontology C1867776 HP:0007293 16 Feb 2016 Finding Anterior scalloping of vertebral bodies Human Phenotype Ontology C2673652 HP:0004580 16 Feb 2016 Finding Anterior scleritis MONDO C0155353 MONDO:0001804 17 Apr 2020 Disease Anterior segment anomalies NCBI curation C3152182 16 Feb 2016 Disease Anterior segment anomalies and cataract NCBI curation C4016751 16 Feb 2016 Disease Anterior segment anomalies with or without cataract NCBI curation C3551443 16 Feb 2016 Disease Anterior segment dysgenesis OMIM phenotypic series C1862839 PS107250 16 Feb 2016 Disease Anterior segment dysgenesis Human Phenotype Ontology C1862839 HP:0007700 16 Feb 2016 Disease ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES CN258952 29 Jan 2017 Disease Anterior segment dysgenesis 2, multiple subtypes CN259009 12 Jun 2019 Disease Anterior segment dysgenesis 3 NCBI curation C1866560 601631 23 Jan 2018 Disease Anterior segment dysgenesis 4 MONDO C1842031 MONDO:0007662 137600 22 Apr 2020 Disease ANTERIOR SEGMENT DYSGENESIS 4, PETERS ANOMALY SUBTYPE 29 Jan 2017 Disease ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES CN258953 01 Feb 2017 Disease ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE 29 Jan 2017 Disease Anterior segment dysgenesis 6 NCBI curation C4310623 617315 20 Jun 2017 Disease Anterior segment dysgenesis 6, multiple subtypes CN258958 12 Jun 2019 Disease Anterior segment dysgenesis 7 NCBI curation C3151617 269400 20 Jun 2017 Disease Anterior segment dysgenesis 7, with sclerocornea CN258959 12 Jun 2019 Disease Anterior segment dysgenesis 8 NCBI curation C4310622 617319 20 Jun 2017 Disease Anterior segment mesenchymal dysgenesis C4551992 107250 16 Feb 2016 Disease Anterior segment of eye aplasia Human Phenotype Ontology C1853234 HP:0007779 16 Feb 2016 Finding Anterior spinal artery stroke C2931608 16 Feb 2016 Disease Anterior spinal artery syndrome MONDO C0221069 MONDO:0006650 17 Apr 2020 Disease Anterior staphyloma Human Phenotype Ontology C0339206 HP:0030855 02 Apr 2017 Finding Anterior subcapsular cataract Human Phenotype Ontology C1112768 HP:0010923 16 Feb 2016 Finding Anterior synechiae Human Phenotype Ontology C0152252 HP:0011483 10 Apr 2018 Disease Anterior tibial bowing Human Phenotype Ontology C1861937 HP:0006390 16 Feb 2016 Finding Anterior urethra cancer MONDO C0279930 MONDO:0004518 17 Apr 2020 Disease Anterior urethral valve MONDO C0431755 MONDO:0018560 17 Apr 2020 Disease Anterior urethral valves CN235497 12 Mar 2016 Finding Anterior vertebral fusion Human Phenotype Ontology C1969393 HP:0004557 16 Feb 2016 Finding Anterior wedging of L1 Human Phenotype Ontology C4024677 HP:0008432 16 Feb 2016 Finding Anterior wedging of L2 Human Phenotype Ontology C4023114 HP:0011941 16 Feb 2016 Finding Anterior wedging of T11 Human Phenotype Ontology C4021652 HP:0004573 02 Apr 2017 Finding Anterior wedging of T12 Human Phenotype Ontology C4021108 HP:0011940 16 Feb 2016 Finding Anteriorly displaced genitalia Human Phenotype Ontology C1848653 HP:0003252 16 Feb 2016 Finding Anteriorly displaced urethral meatus Human Phenotype Ontology C4024648 HP:0008648 16 Feb 2016 Finding Anteriorly placed anus Human Phenotype Ontology C1838705 HP:0001545 16 Feb 2016 Finding Anteriorly placed odontoid process Human Phenotype Ontology C1844512 HP:0004608 16 Feb 2016 Finding Anterograde amnesia MONDO C0233795 MONDO:0003398 17 Apr 2020 Disease Anterolateral myocardial infarction MONDO C0262564 MONDO:0006652 17 Apr 2020 Disease Anterolateral radial head dislocation Human Phenotype Ontology C1968610 HP:0005050 16 Feb 2016 Finding Anteroposteriorly shortened larynx Human Phenotype Ontology C3805994 HP:0005956 16 Feb 2016 Finding Anteroseptal myocardial infarction MONDO C0262565 MONDO:0003679 17 Apr 2020 Disease Anteverted ears Human Phenotype Ontology C1857055 HP:0040080 16 Feb 2016 Finding Anteverted nares Human Phenotype Ontology C1840077 HP:0000463 16 Feb 2016 Finding Anthracosilicosis MONDO C0003164 MONDO:0006653 17 Apr 2020 Disease Anthracosis MONDO C0003165 MONDO:0006654 17 Apr 2020 Disease anthracyclines and related substances response - Toxicity/ADR PharmGKB CN236469 652779372 18 May 2016 Pharmacological response Anthrax 16 Feb 2016 Disease Anthrax infection MONDO C0003175 MONDO:0005119 04 Jun 2020 Infectious disease Anti-basement membrane glomerulonephritis MONDO C1332309 MONDO:0003136 17 Apr 2020 Disease anti-citrullinated peptide antibody seropositive 01 Oct 2018 Finding Anti-D isoimmunization affecting pregnancy NCBI curation C3698348 27 Nov 2017 Disease Anti-factor 8 autoimmunization 16 Feb 2016 Disease Anti-glomerular basement membrane disease MONDO C0403529 MONDO:0009303 233450 22 Apr 2020 Disease Anti-glutamic acid decarboxylase antibody positivity Human Phenotype Ontology C4476703 HP:0025329 02 Apr 2017 Finding Anti-HLA hyperimmunization CN265508 16 Feb 2016 Disease Anti-liver cytosolic antigen type 1 antibody positivity Human Phenotype Ontology C4293676 HP:0030909 02 Apr 2017 Finding Anti-multiple nuclear dots antibody positivity Human Phenotype Ontology C4476723 HP:0025353 02 Apr 2017 Finding Anti-neutrophil antibody associated vasculitis MONDO MONDO:0005435 17 Apr 2020 Disease Anti-neutrophil cytoplasmic antibody-associated vasculitis MONDO C2717865 MONDO:0015492 17 Apr 2020 Disease Anti-NMDA receptor encephalitis MONDO C2986717 MONDO:0021081 04 Jun 2020 Infectious disease Anti-p200 pemphigoid MONDO CN237754 MONDO:0018688 17 Apr 2020 Disease Anti-PDL1 response 04 May 2018 Pharmacological response Anti-pituitary antibody positivity Human Phenotype Ontology C4476744 HP:0025381 04 Apr 2018 Finding Anti-SEMA4D Monoclonal Antibody VX15/2503 C3272653 01 Nov 2018 Pharmacological response Anti-thyroid peroxidase antibody positivity Human Phenotype Ontology C4476743 HP:0025379 04 Apr 2018 Finding Antibody mediated epilepsy MONDO MONDO:0100029 17 Apr 2020 Disease Anticentromere antibody positivity Human Phenotype Ontology C4280732 HP:0030873 02 Apr 2017 Finding ANTICHYMOTRYPSIN BOCHUM 1 NCBI curation 22 May 2016 Disease ANTICHYMOTRYPSIN BONN 1 NCBI curation 22 May 2016 Disease ANTICHYMOTRYPSIN ISEHARA 1 NCBI curation 22 May 2016 Disease ANTICHYMOTRYPSIN ISEHARA 2 NCBI curation 22 May 2016 Named protein variant ANTICHYMOTRYPSIN SIGNAL PEPTIDE POLYMORPHISM NCBI curation 16 Feb 2016 Finding Antidepressant drug treatment, accelerated response to NCBI curation C1865106 16 Feb 2016 Disease Antidepressant type abuse MONDO MONDO:0001345 17 Apr 2020 Disease antidepressants response - Dosage, Toxicity/ADR PharmGKB CN236477 1183617220 18 May 2016 Pharmacological response antidepressants response - Efficacy PharmGKB CN236478 982030381 18 May 2016 Pharmacological response antiepileptics response - Efficacy PharmGKB CN240589 1447961401 17 Feb 2017 Pharmacological response Antigen defined by monoclonal antibody aj9 NCBI curation C1834757 158030 16 Feb 2016 Disease Antigen defined by monoclonal antibody t87 NCBI curation C1834756 158040 16 Feb 2016 Disease Antigen in Cartwright blood group system NCBI curation C1862189 112100 16 Feb 2016 Blood group Antigen in Scianna blood group system NCBI curation C1292292 111750 16 Feb 2016 Blood group ANTIGEN MSK41 IDENTIFIED BY MONOCLONAL ANTIBODY E3 OMIM CN263295 107260 107260 26 Feb 2020 Disease Antigen-peptide-transporter 2 deficiency 16 Feb 2016 Disease Antihelical shelf Human Phenotype Ontology C4021197 HP:0011233 16 Feb 2016 Finding Antihypertensive drugs antenatal infection 16 Feb 2016 Disease Antiinflammatory agents, non-steroids response - Toxicity/ADR PharmGKB CN236461 981238437 18 May 2016 Pharmacological response Antimitochondrial antibody positivity Human Phenotype Ontology C4021051 HP:0030167 16 Feb 2016 Finding antineoplastic agents response - Efficacy, Toxicity/ADR PharmGKB CN236462 655386635 18 May 2016 Pharmacological response Antineutrophil antibody positivity Human Phenotype Ontology C1858981 HP:0003453 16 Feb 2016 Finding Antinuclear antibody positivity Human Phenotype Ontology C0151480 HP:0003493 16 Feb 2016 Finding Antiphospholipid antibody positivity Human Phenotype Ontology C4019436 HP:0003613 16 Feb 2016 Finding Antiphospholipid syndrome C2930802 107320 16 Feb 2016 Disease antipsychotics response - Toxicity/ADR PharmGKB CN236479 1183704339 18 May 2016 Pharmacological response Antipyrine metabolism NCBI curation C1862824 107290 16 Feb 2016 Disease Antisocial behavior, susceptibility to NCBI curation CN237820 24 Aug 2016 Disease Antisocial personality disorder C0003431 16 Feb 2016 Disease Antisynthetase syndrome NCBI curation C2609059 16 Feb 2016 Disease Antithrombin deficiency CN221564 16 Feb 2016 Disease Antithrombin deficiency type 2 MONDO C2931609 MONDO:0020670 17 Apr 2020 Disease Antithrombin III deficiency MONDO C0272375 MONDO:0013144 613118 17 Apr 2020 Disease Antithrombin III deficiency Human Phenotype Ontology C0272375 HP:0001976 613118 17 Apr 2020 Disease Antithrombin, familial hemorrhagic diathesis due to NCBI curation C1859761 207300 16 Feb 2016 Disease Antiviral state repressor, regulator of NCBI curation C1862714 107440 16 Feb 2016 Disease Antley-Bixler syndrome NCBI curation CN220439 16 Feb 2016 Disease Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis NCBI curation C3150099 201750 16 Feb 2016 Disease Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis NCBI curation C2936791 207410 16 Feb 2016 Disease Antley-Bixley syndrome with disordered steroidogenesis CN860320 13 Mar 2018 Disease Anton's syndrome 16 Feb 2016 Disease Anuria Human Phenotype Ontology C0003460 HP:0100519 16 Feb 2016 Finding Anus adenocarcinoma MONDO C1332257 MONDO:0002652 17 Apr 2020 Disease Anus basaloid carcinoma MONDO C0280470 MONDO:0004130 17 Apr 2020 Disease Anus cancer MONDO MONDO:0001879 17 Apr 2020 Disease Anus disease MONDO MONDO:0002519 17 Apr 2020 Disease Anus leiomyoma MONDO C1332266 MONDO:0003292 17 Apr 2020 Disease Anus leiomyosarcoma MONDO C1332267 MONDO:0003358 17 Apr 2020 Disease Anus lymphoma MONDO C1332268 MONDO:0001888 17 Apr 2020 Disease Anus neoplasm MONDO C0003463 MONDO:0003046 17 Apr 2020 Disease Anus rhabdomyosarcoma MONDO C1332276 MONDO:0002864 17 Apr 2020 Disease Anus sarcoma MONDO C1332277 MONDO:0002865 17 Apr 2020 Disease Anxiety Human Phenotype Ontology C0003467 HP:0000739 607834 16 Feb 2016 Finding anxiety disorder C0003469 05 Sep 2019 Finding anxiety disorders 14 Mar 2019 Finding Anxiety state C0700613 18 Jan 2019 Finding Anxiety, some symptoms 23 Jan 2020 Finding Aorta angiosarcoma MONDO C1332312 MONDO:0003023 17 Apr 2020 Disease Aorta atresia MONDO MONDO:0001863 17 Apr 2020 Disease Aorta-pulmonary artery fistula 16 Feb 2016 Disease Aortic aneurysm Human Phenotype Ontology C0003486 HP:0004942 16 Feb 2016 Disease Aortic aneurysm (disease) MONDO MONDO:0005160 17 Apr 2020 Disease Aortic aneurysm, ascending, and dissection CN239144 29 Nov 2016 Disease Aortic aneurysm, familial abdominal 2 NCBI curation C1853364 609782 16 Feb 2016 Disease Aortic aneurysm, familial abdominal 3 NCBI curation C2678470 611891 16 Feb 2016 Disease Aortic aneurysm, familial abdominal 4 NCBI curation C3280597 614375 16 Feb 2016 Disease Aortic aneurysm, familial thoracic (AAT), TGFB3 related CN235351 01 Mar 2016 Disease Aortic aneurysm, familial thoracic 10 NCBI curation C4284414 617168 20 Jun 2017 Disease Aortic aneurysm, familial thoracic 11, susceptibility to NCBI curation C4479235 617349 20 Jun 2017 Disease Aortic aneurysm, familial thoracic 2 NCBI curation C1846837 607087 16 Feb 2016 Disease Aortic aneurysm, familial thoracic 4 C1851504 132900 16 Feb 2016 Disease Aortic aneurysm, familial thoracic 6 NCBI curation C2673186 611788 16 Feb 2016 Disease Aortic aneurysm, familial thoracic 7 NCBI curation C3151077 613780 16 Feb 2016 Disease Aortic aneurysm, familial thoracic 8 NCBI curation C3809513 615436 16 Feb 2016 Disease Aortic aneurysm, familial thoracic 9 NCBI curation C4015368 616166 16 Feb 2016 Disease Aortic aneurysm, familial thoracic, SMAD3 related CN231478 16 Feb 2016 Disease Aortic aneurysm, familial thoracic, TGFB2 related CN231479 16 Feb 2016 Disease Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome MONDO C1862682 MONDO:0007143 107500 17 Apr 2020 Disease Aortic arch calcification Human Phenotype Ontology C1969291 HP:0005303 16 Feb 2016 Finding Aortic arch defects MONDO CN197592 MONDO:0015236 17 Apr 2020 Disease Aortic arch interruption, facial palsy, and retinal coloboma NCBI curation C1862681 107550 16 Feb 2016 Disease Aortic arches defect 16 Feb 2016 Disease Aortic atherosclerosis Human Phenotype Ontology C0155733 HP:0012397 16 Feb 2016 Finding Aortic dilatation Human Phenotype Ontology C0265004 HP:0001724 16 Feb 2016 Finding Aortic dilatation with a Z score above 2 (Z>=2) 05 Sep 2018 Finding Aortic dilatation with a Z score above 3 (Z>3) 05 Sep 2018 Finding Aortic dilatation with a Z score of 2 (Z=2) 05 Sep 2018 Finding Aortic disease MONDO C0003493 MONDO:0005561 17 Apr 2020 Disease Aortic dissection Human Phenotype Ontology C0340643 HP:0002647 16 Feb 2016 Finding Aortic dissection lentiginosis 16 Feb 2016 Disease Aortic enlargement 29 Aug 2019 Finding Aortic malformation MONDO CN227848 MONDO:0020286 17 Apr 2020 Disease Aortic malignant tumor MONDO C1334560 MONDO:0004539 17 Apr 2020 Disease aortic narrowing 05 Sep 2019 Finding aortic plexus 10 Jun 2020 Finding Aortic regurgitation Human Phenotype Ontology C0003504 HP:0001659 16 Feb 2016 Finding Aortic root aneurysm 02 Aug 2019 Finding Aortic root dilatation Human Phenotype Ontology C1298820 HP:0002616 16 Feb 2016 Finding aortic root dilation C1866956 16 Feb 2016 Finding Aortic stiffness Human Phenotype Ontology C3178782 HP:0030965 04 Apr 2018 Finding Aortic tortuosity Human Phenotype Ontology C4025003 HP:0006687 16 Feb 2016 Finding Aortic valve atresia (disease) MONDO C0265843 MONDO:0019808 17 Apr 2020 Disease Aortic valve calcification Human Phenotype Ontology C0428791 HP:0004380 16 Feb 2016 Finding Aortic valve disease 2 NCBI curation C3542024 614823 16 Feb 2016 Disease AORTIC VALVE DISEASE 3 OMIM C5193127 618496 618496 11 Jul 2019 Disease Aortic valve disorder C3887892 109730 16 Feb 2016 Disease Aortic valve dysplasia MONDO C0344993 MONDO:0015097 17 Apr 2020 Disease Aortic valve insufficiency MONDO MONDO:0005648 17 Apr 2020 Disease Aortic valve prolapse MONDO C0003505 MONDO:0006655 17 Apr 2020 Disease Aortic valve stenosis Human Phenotype Ontology C0003507 HP:0001650 16 Feb 2016 Disease Aortic valves stenosis of the child 16 Feb 2016 Disease Aortitis MONDO C0003509 MONDO:0006656 17 Apr 2020 Disease Aorto-left ventricular tunnel MONDO C0345054 MONDO:0020411 17 Apr 2020 Disease Aorto-right ventricular tunnel MONDO C0345055 MONDO:0020410 17 Apr 2020 Disease Aorto-ventricular tunnel Human Phenotype Ontology C4023262 HP:0011627 16 Feb 2016 Finding Aortopulmonary coronary arterial course MONDO C4757971 MONDO:0020422 17 Apr 2020 Disease Aortopulmonary window Human Phenotype Ontology C0003516 HP:0011604 16 Feb 2016 Disease Apathy Human Phenotype Ontology C0085632 HP:0000741 16 Feb 2016 Finding APC-Associated Polyposis Disorders CN239210 02 Dec 2016 Disease APC-mutation negative familial colorectal cancer NCBI curation CN233259 16 Feb 2016 Disease APC-related attenuated familial adenomatous polyposis MONDO CN201818 MONDO:0016613 17 Apr 2020 Disease Apert-like polydactyly syndrome MONDO MONDO:0021905 22 Apr 2020 Disease Aphalangy of hands and feet Human Phenotype Ontology C4021887 HP:0200113 16 Feb 2016 Finding Aphalangy of the hands Human Phenotype Ontology C4025114 HP:0005886 16 Feb 2016 Finding Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome MONDO C1859754 MONDO:0008806 207620 17 Apr 2020 Disease Aphalangy-syndactyly-microcephaly syndrome MONDO C1838161 MONDO:0010882 600384 17 Apr 2020 Disease Aphasia Human Phenotype Ontology C0003537 HP:0002381 16 Feb 2016 Finding Aphasia, primary progressive, susceptibility to NCBI curation 16 Feb 2016 Disease aphasia/speech disturbance 14 Mar 2019 Finding Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome MONDO C4751006 MONDO:0017934 17 Apr 2020 Disease Aphthous stomatitis 16 Feb 2016 Disease Apical hypertrabeculation of the left ventricle Human Phenotype Ontology C4531285 HP:0031195 04 Apr 2018 Finding Apical muscular ventricular septal defect Human Phenotype Ontology C4023264 HP:0011624 16 Feb 2016 Finding Apical myocardial infarction MONDO MONDO:0003673 17 Apr 2020 Disease Apically displaced anterolateral papillary muscle Human Phenotype Ontology C4476785 HP:0025449 04 Apr 2018 Finding Aplasia cutis autosomal recessive 16 Feb 2016 Disease Aplasia cutis congenita (disease) MONDO C0282160 MONDO:0007145 107600 17 Apr 2020 Disease Aplasia cutis congenita dominant 16 Feb 2016 Disease Aplasia cutis congenita of midline scalp vertex Human Phenotype Ontology C4024849 HP:0007536 16 Feb 2016 Finding Aplasia cutis congenita of scalp Human Phenotype Ontology C1855698 HP:0007385 16 Feb 2016 Finding Aplasia cutis congenita on trunk or limbs Human Phenotype Ontology C1863496 HP:0007589 16 Feb 2016 Finding Aplasia cutis congenita over parietal area Human Phenotype Ontology C1863492 HP:0004476 16 Feb 2016 Finding Aplasia cutis congenita over posterior parietal area Human Phenotype Ontology C1863495 HP:0007590 16 Feb 2016 Finding Aplasia cutis congenita over the scalp vertex Human Phenotype Ontology C1970112 HP:0004471 16 Feb 2016 Finding Aplasia cutis congenita recessive 16 Feb 2016 Disease aplasia cutis congenita with bony defect 13 Oct 2017 Finding Aplasia cutis congenita, congenital heart defect, and frontonasal cysts NCBI curation 16 Feb 2016 Disease Aplasia cutis congenita, high myopia, and cone-rod dysfunction NCBI curation C1832826 601075 16 Feb 2016 Disease Aplasia cutis congenita-intestinal lymphangiectasia syndrome MONDO C1859753 MONDO:0008808 207731 17 Apr 2020 Disease aplasia cutis congenital 05 Sep 2019 Finding Aplasia involving bones of the extremities Human Phenotype Ontology C4024193 HP:0009825 16 Feb 2016 Finding Aplasia involving bones of the lower limbs Human Phenotype Ontology C4024198 HP:0009817 16 Feb 2016 Finding Aplasia involving bones of the upper limbs Human Phenotype Ontology C4024194 HP:0009823 16 Feb 2016 Finding Aplasia involving forearm bones Human Phenotype Ontology C4024195 HP:0009822 16 Feb 2016 Finding Aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy NCBI curation C1859752 207740 16 Feb 2016 Disease Aplasia of facial bones Human Phenotype Ontology C4022497 HP:0040008 16 Feb 2016 Finding Aplasia of lymphatic vessels Human Phenotype Ontology C4022404 HP:0045006 16 Feb 2016 Finding Aplasia of metacarpal bones Human Phenotype Ontology C1846473 HP:0010048 16 Feb 2016 Finding aplasia of middle phalanges of fifth finger 21 Jun 2020 Finding Aplasia of the 1st metacarpal Human Phenotype Ontology C1838610 HP:0010035 16 Feb 2016 Finding Aplasia of the 2nd finger Human Phenotype Ontology C4021453 HP:0009535 16 Feb 2016 Finding Aplasia of the 2nd metacarpal Human Phenotype Ontology C4024090 HP:0010037 16 Feb 2016 Finding Aplasia of the 3rd finger Human Phenotype Ontology C4024346 HP:0009460 16 Feb 2016 Finding Aplasia of the 3rd metacarpal Human Phenotype Ontology C4024088 HP:0010040 16 Feb 2016 Finding Aplasia of the 4th finger Human Phenotype Ontology C4024472 HP:0009281 16 Feb 2016 Finding Aplasia of the 4th metacarpal Human Phenotype Ontology C4024086 HP:0010043 16 Feb 2016 Finding Aplasia of the 5th finger Human Phenotype Ontology C4024508 HP:0009238 16 Feb 2016 Finding Aplasia of the 5th metacarpal Human Phenotype Ontology C1867929 HP:0010046 16 Feb 2016 Finding Aplasia of the abdominal wall musculature Human Phenotype Ontology C3149223 HP:0005199 16 Feb 2016 Finding Aplasia of the bladder Human Phenotype Ontology C4023812 HP:0010477 16 Feb 2016 Finding Aplasia of the distal phalanges of the hand Human Phenotype Ontology C4024173 HP:0009881 16 Feb 2016 Finding Aplasia of the distal phalanges of the toes Human Phenotype Ontology C4023761 HP:0010645 16 Feb 2016 Finding Aplasia of the distal phalanx of the 2nd finger Human Phenotype Ontology C4021439 HP:0009565 16 Feb 2016 Finding Aplasia of the distal phalanx of the 3rd finger Human Phenotype Ontology C4024368 HP:0009429 16 Feb 2016 Finding Aplasia of the distal phalanx of the 4th finger Human Phenotype Ontology C4024465 HP:0009291 16 Feb 2016 Finding Aplasia of the distal phalanx of the 4th toe Human Phenotype Ontology C4022113 HP:0100379 16 Feb 2016 Finding Aplasia of the distal phalanx of the 5th finger Human Phenotype Ontology C4024501 HP:0009246 16 Feb 2016 Finding Aplasia of the distal phalanx of the 5th toe Human Phenotype Ontology C4022112 HP:0100380 16 Feb 2016 Finding Aplasia of the distal phalanx of the hallux Human Phenotype Ontology C4024048 HP:0010102 16 Feb 2016 Finding Aplasia of the distal phalanx of the thumb Human Phenotype Ontology C4021416 HP:0009649 16 Feb 2016 Finding Aplasia of the eccrine sweat glands Human Phenotype Ontology C4022475 HP:0040042 16 Feb 2016 Finding Aplasia of the epiglottis Human Phenotype Ontology C4024628 HP:0008753 16 Feb 2016 Finding Aplasia of the Eustachian tube Human Phenotype Ontology C0266616 HP:0040116 16 Feb 2016 Finding Aplasia of the falx cerebri Human Phenotype Ontology C4023756 HP:0010654 16 Feb 2016 Finding Aplasia of the femoral head Human Phenotype Ontology C4021950 HP:0100862 16 Feb 2016 Finding Aplasia of the femoral neck Human Phenotype Ontology C4021949 HP:0100863 16 Feb 2016 Finding Aplasia of the fingers Human Phenotype Ontology CN008252 HP:0009380 16 Feb 2016 Finding Aplasia of the fovea Human Phenotype Ontology C4023324 HP:0011503 16 Feb 2016 Finding Aplasia of the inferior half of the cerebellar vermis Human Phenotype Ontology C1857787 HP:0007063 16 Feb 2016 Finding Aplasia of the inner ear Human Phenotype Ontology C0266604 HP:0011372 16 Feb 2016 Finding Aplasia of the left hemidiaphragm Human Phenotype Ontology C4022469 HP:0040048 16 Feb 2016 Finding Aplasia of the lower vagina Human Phenotype Ontology C0431646 HP:0012674 16 Feb 2016 Finding Aplasia of the maxilla Human Phenotype Ontology C4023750 HP:0010667 16 Feb 2016 Finding Aplasia of the middle ear ossicles Human Phenotype Ontology C4021374 HP:0009910 16 Feb 2016 Finding Aplasia of the middle phalanges of the toes Human Phenotype Ontology C4022107 HP:0100387 16 Feb 2016 Finding Aplasia of the middle phalanx of the 2nd toe Human Phenotype Ontology C4023828 HP:0010434 16 Feb 2016 Finding Aplasia of the middle phalanx of the 4th toe Human Phenotype Ontology C4022111 HP:0100382 16 Feb 2016 Finding Aplasia of the middle phalanx of the 5th toe Human Phenotype Ontology C4022110 HP:0100383 16 Feb 2016 Finding Aplasia of the middle phalanx of the hand Human Phenotype Ontology C1862096 HP:0010239 16 Feb 2016 Finding Aplasia of the musculature Human Phenotype Ontology C4021955 HP:0100854 16 Feb 2016 Finding Aplasia of the musculature of the pelvis Human Phenotype Ontology C4477083 HP:0500024 04 Apr 2018 Finding Aplasia of the nasal bone Human Phenotype Ontology C4023635 HP:0010941 16 Feb 2016 Finding Aplasia of the nose Human Phenotype Ontology C0265740 HP:0009927 16 Feb 2016 Finding Aplasia of the optic tract Human Phenotype Ontology C4023603 HP:0010999 16 Feb 2016 Finding Aplasia of the ovary Human Phenotype Ontology C0266368 HP:0010463 16 Feb 2016 Finding Aplasia of the parotid gland Human Phenotype Ontology C4024215 HP:0009740 16 Feb 2016 Finding Aplasia of the pectoralis major muscle Human Phenotype Ontology C4024213 HP:0009751 16 Feb 2016 Finding Aplasia of the phalanges of the 2nd toe Human Phenotype Ontology C4023829 HP:0010430 16 Feb 2016 Finding Aplasia of the phalanges of the 3rd toe Human Phenotype Ontology C4022125 HP:0100362 16 Feb 2016 Finding Aplasia of the phalanges of the 4th toe Human Phenotype Ontology C4022124 HP:0100363 16 Feb 2016 Finding Aplasia of the phalanges of the 5th toe Human Phenotype Ontology C4022123 HP:0100364 16 Feb 2016 Finding Aplasia of the phalanges of the hallux Human Phenotype Ontology C4024046 HP:0010110 16 Feb 2016 Finding Aplasia of the phalanges of the hand Human Phenotype Ontology C4024203 HP:0009802 16 Feb 2016 Finding Aplasia of the phalanges of the toes Human Phenotype Ontology C4021231 HP:0010745 16 Feb 2016 Finding Aplasia of the premaxilla Human Phenotype Ontology C4023712 HP:0010757 16 Feb 2016 Finding Aplasia of the proximal phalanges of the hand Human Phenotype Ontology C4021302 HP:0010242 16 Feb 2016 Finding Aplasia of the proximal phalanges of the toes Human Phenotype Ontology C4022106 HP:0100388 16 Feb 2016 Finding Aplasia of the proximal phalanx of the 2nd finger Human Phenotype Ontology C4024275 HP:0009596 16 Feb 2016 Finding Aplasia of the proximal phalanx of the 2nd toe Human Phenotype Ontology C4023827 HP:0010436 16 Feb 2016 Finding Aplasia of the proximal phalanx of the 3rd finger Human Phenotype Ontology C4024347 HP:0009458 16 Feb 2016 Finding Aplasia of the proximal phalanx of the 4th finger Human Phenotype Ontology C4024460 HP:0009298 16 Feb 2016 Finding Aplasia of the proximal phalanx of the 4th toe Human Phenotype Ontology C4022109 HP:0100385 16 Feb 2016 Finding Aplasia of the proximal phalanx of the 5th finger Human Phenotype Ontology C4024517 HP:0009225 16 Feb 2016 Finding Aplasia of the proximal phalanx of the 5th toe Human Phenotype Ontology C4022108 HP:0100386 16 Feb 2016 Finding Aplasia of the proximal phalanx of the hallux Human Phenotype Ontology C4024047 HP:0010106 16 Feb 2016 Finding Aplasia of the pyramidal tract Human Phenotype Ontology C4022147 HP:0100322 16 Feb 2016 Finding Aplasia of the retina Human Phenotype Ontology C4023718 HP:0010728 16 Feb 2016 Finding Aplasia of the semicircular canal Human Phenotype Ontology C4023385 HP:0011381 16 Feb 2016 Finding Aplasia of the sweat glands Human Phenotype Ontology C2677485 HP:0011136 16 Feb 2016 Finding Aplasia of the tarsal bones Human Phenotype Ontology C4021257 HP:0010509 16 Feb 2016 Finding Aplasia of the thymus Human Phenotype Ontology C0685894 HP:0005359 16 Feb 2016 Finding Aplasia of the ulna Human Phenotype Ontology C2678397 HP:0003982 04 Apr 2018 Finding Aplasia of the upper vagina Human Phenotype Ontology C4022788 HP:0012673 16 Feb 2016 Finding Aplasia of the uterus Human Phenotype Ontology C0425913 HP:0000151 16 Feb 2016 Finding Aplasia of the vagina Human Phenotype Ontology C1841990 HP:0003250 16 Feb 2016 Finding Aplasia of the vestibular nerve. Human Phenotype Ontology C4021153 HP:0011393 16 Feb 2016 Finding Aplasia of the vestibule Human Phenotype Ontology C4023389 HP:0011377 16 Feb 2016 Finding Aplasia or hypoplasia of breasts and/or nipples NCBI curation C0432357 16 Feb 2016 Disease Aplasia/hypoplasia affecting bones of the axial skeleton Human Phenotype Ontology C4024585 HP:0009122 16 Feb 2016 Finding Aplasia/Hypoplasia affecting the anterior segment of the eye Human Phenotype Ontology C4024739 HP:0008062 16 Feb 2016 Finding Aplasia/Hypoplasia affecting the eye Human Phenotype Ontology C4024745 HP:0008056 16 Feb 2016 Finding Aplasia/Hypoplasia affecting the fundus Human Phenotype Ontology C4024744 HP:0008057 16 Feb 2016 Finding Aplasia/Hypoplasia affecting the uvea Human Phenotype Ontology C4024746 HP:0008055 16 Feb 2016 Finding Aplasia/hypoplasia involving bones of the extremities Human Phenotype Ontology C4073181 HP:0045060 02 Apr 2017 Finding Aplasia/Hypoplasia involving bones of the feet Human Phenotype Ontology C4025036 HP:0006494 16 Feb 2016 Finding Aplasia/hypoplasia involving bones of the hand Human Phenotype Ontology C4021612 HP:0005927 16 Feb 2016 Finding Aplasia/hypoplasia involving bones of the lower limbs Human Phenotype Ontology C4025037 HP:0006493 16 Feb 2016 Finding Aplasia/Hypoplasia involving bones of the skull Human Phenotype Ontology C4024591 HP:0009116 16 Feb 2016 Finding Aplasia/Hypoplasia involving bones of the thorax Human Phenotype Ontology C4024992 HP:0006711 16 Feb 2016 Finding Aplasia/hypoplasia involving bones of the upper limbs Human Phenotype Ontology C4025035 HP:0006496 16 Feb 2016 Finding Aplasia/hypoplasia involving forearm bones Human Phenotype Ontology C4025032 HP:0006503 16 Feb 2016 Finding Aplasia/Hypoplasia involving the carpal bones Human Phenotype Ontology C4025033 HP:0006502 16 Feb 2016 Finding Aplasia/Hypoplasia involving the central nervous system Human Phenotype Ontology C4025665 HP:0002977 16 Feb 2016 Finding Aplasia/Hypoplasia involving the corticospinal tracts Human Phenotype Ontology C4024901 HP:0007365 16 Feb 2016 Finding Aplasia/Hypoplasia involving the femoral head and neck Human Phenotype Ontology C4024594 HP:0009108 16 Feb 2016 Finding Aplasia/Hypoplasia involving the metacarpal bones Human Phenotype Ontology C1836192 HP:0005914 16 Feb 2016 Finding Aplasia/Hypoplasia involving the musculature of the extremities Human Phenotype Ontology C4024581 HP:0009128 16 Feb 2016 Finding Aplasia/Hypoplasia involving the musculature of the upper arm Human Phenotype Ontology C4025769 HP:0001468 16 Feb 2016 Finding Aplasia/Hypoplasia involving the musculature of the upper limbs Human Phenotype Ontology C4025770 HP:0001467 16 Feb 2016 Finding Aplasia/Hypoplasia involving the nose Human Phenotype Ontology C4024159 HP:0009924 16 Feb 2016 Finding Aplasia/Hypoplasia involving the pelvis Human Phenotype Ontology C4024597 HP:0009103 16 Feb 2016 Finding Aplasia/Hypoplasia involving the shoulder musculature Human Phenotype Ontology C4025772 HP:0001464 16 Feb 2016 Finding Aplasia/Hypoplasia involving the sinuses Human Phenotype Ontology C4024587 HP:0009120 16 Feb 2016 Finding Aplasia/Hypoplasia involving the skeletal musculature Human Phenotype Ontology C4025773 HP:0001460 16 Feb 2016 Finding Aplasia/hypoplasia involving the skeleton Human Phenotype Ontology C4024592 HP:0009115 16 Feb 2016 Finding Aplasia/Hypoplasia involving the vertebral column Human Phenotype Ontology C4024659 HP:0008518 16 Feb 2016 Finding Aplasia/Hypoplasia of fingers Human Phenotype Ontology C4025071 HP:0006265 16 Feb 2016 Finding Aplasia/Hypoplasia of metatarsal bones Human Phenotype Ontology C1860182 HP:0001964 16 Feb 2016 Finding Aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits and nails 16 Feb 2016 Disease Aplasia/hypoplasia of proximal toe phalanx Human Phenotype Ontology C4021317 HP:0010203 16 Feb 2016 Finding Aplasia/Hypoplasia of the 1st metacarpal Human Phenotype Ontology C4024098 HP:0010026 16 Feb 2016 Finding Aplasia/hypoplasia of the 1st metatarsal Human Phenotype Ontology C4024076 HP:0010067 16 Feb 2016 Finding Aplasia/Hypoplasia of the 2nd finger Human Phenotype Ontology C4025072 HP:0006264 16 Feb 2016 Finding Aplasia/Hypoplasia of the 2nd metacarpal Human Phenotype Ontology C4024091 HP:0010036 16 Feb 2016 Finding Aplasia/Hypoplasia of the 2nd toe Human Phenotype Ontology C4023902 HP:0010325 16 Feb 2016 Finding Aplasia/Hypoplasia of the 3rd finger Human Phenotype Ontology C4024446 HP:0009318 16 Feb 2016 Finding Aplasia/Hypoplasia of the 3rd metacarpal Human Phenotype Ontology C4024089 HP:0010039 16 Feb 2016 Finding Aplasia/Hypoplasia of the 3rd toe Human Phenotype Ontology C1862698 HP:0010331 16 Feb 2016 Finding Aplasia/Hypoplasia of the 4th finger Human Phenotype Ontology C4024478 HP:0009272 16 Feb 2016 Finding Aplasia/Hypoplasia of the 4th metacarpal Human Phenotype Ontology C4024087 HP:0010042 16 Feb 2016 Finding Aplasia/Hypoplasia of the 4th toe Human Phenotype Ontology C4023895 HP:0010337 16 Feb 2016 Finding Aplasia/Hypoplasia of the 5th finger Human Phenotype Ontology C4025074 HP:0006262 16 Feb 2016 Finding Aplasia/Hypoplasia of the 5th metacarpal Human Phenotype Ontology C4024085 HP:0010045 16 Feb 2016 Finding Aplasia/Hypoplasia of the 5th toe Human Phenotype Ontology C4023891 HP:0010343 16 Feb 2016 Finding Aplasia/Hypoplasia of the abdominal wall musculature Human Phenotype Ontology C4023909 HP:0010318 16 Feb 2016 Finding Aplasia/Hypoplasia of the biceps Human Phenotype Ontology C4024209 HP:0009782 16 Feb 2016 Finding Aplasia/Hypoplasia of the bladder Human Phenotype Ontology C4023813 HP:0010476 16 Feb 2016 Finding Aplasia/Hypoplasia of the brainstem Human Phenotype Ontology C4024904 HP:0007362 16 Feb 2016 Finding Aplasia/Hypoplasia of the breasts Human Phenotype Ontology C4023911 HP:0010311 16 Feb 2016 Finding Aplasia/Hypoplasia of the capital femoral epiphysis Human Phenotype Ontology C4025261 HP:0005003 16 Feb 2016 Finding Aplasia/Hypoplasia of the cerebellar vermis Human Phenotype Ontology C1855676 HP:0006817 02 Apr 2017 Finding Aplasia/Hypoplasia of the cerebellum Human Phenotype Ontology C3279222 HP:0007360 16 Feb 2016 Finding Aplasia/Hypoplasia of the cerebral white matter Human Phenotype Ontology C4021844 HP:0012429 16 Feb 2016 Finding Aplasia/Hypoplasia of the cerebrum Human Phenotype Ontology C4024902 HP:0007364 16 Feb 2016 Finding Aplasia/Hypoplasia of the cervical spine Human Phenotype Ontology C4023576 HP:0011041 16 Feb 2016 Finding Aplasia/Hypoplasia of the clavicles Human Phenotype Ontology C4024993 HP:0006710 16 Feb 2016 Finding Aplasia/Hypoplasia of the clitoris Human Phenotype Ontology C4280693 HP:0040255 02 Apr 2017 Finding Aplasia/Hypoplasia of the cochlea Human Phenotype Ontology C4023378 HP:0011395 16 Feb 2016 Finding Aplasia/Hypoplasia of the colon Human Phenotype Ontology C4021964 HP:0100811 16 Feb 2016 Finding Aplasia/Hypoplasia of the corpus callosum Human Phenotype Ontology C1861866 HP:0007370 16 Feb 2016 Finding Aplasia/Hypoplasia of the diaphragm Human Phenotype Ontology C4023910 HP:0010315 16 Feb 2016 Finding Aplasia/Hypoplasia of the distal phalanges of the hand Human Phenotype Ontology C1861336 HP:0009835 16 Feb 2016 Finding Aplasia/Hypoplasia of the distal phalanges of the toes Human Phenotype Ontology C4021326 HP:0010185 16 Feb 2016 Finding Aplasia/Hypoplasia of the distal phalanx of the 2nd finger Human Phenotype Ontology C4024294 HP:0009557 16 Feb 2016 Finding Aplasia/Hypoplasia of the distal phalanx of the 2nd toe Human Phenotype Ontology C4023843 HP:0010413 16 Feb 2016 Finding Aplasia/Hypoplasia of the distal phalanx of the 3rd finger Human Phenotype Ontology C4024374 HP:0009421 16 Feb 2016 Finding Aplasia/Hypoplasia of the distal phalanx of the 3rd toe Human Phenotype Ontology C4022122 HP:0100369 16 Feb 2016 Finding Aplasia/Hypoplasia of the distal phalanx of the 4th finger Human Phenotype Ontology C4024466 HP:0009289 16 Feb 2016 Finding Aplasia/Hypoplasia of the distal phalanx of the 4th toe Human Phenotype Ontology C4022121 HP:0100370 16 Feb 2016 Finding Aplasia/Hypoplasia of the distal phalanx of the 5th finger Human Phenotype Ontology C4024507 HP:0009239 16 Feb 2016 Finding Aplasia/Hypoplasia of the distal phalanx of the 5th toe Human Phenotype Ontology C4022120 HP:0100371 16 Feb 2016 Finding Aplasia/Hypoplasia of the distal phalanx of the hallux Human Phenotype Ontology C4024069 HP:0010076 16 Feb 2016 Finding Aplasia/Hypoplasia of the distal phalanx of the thumb Human Phenotype Ontology C4024261 HP:0009641 16 Feb 2016 Finding Aplasia/Hypoplasia of the ear Human Phenotype Ontology C4024627 HP:0008771 16 Feb 2016 Finding Aplasia/Hypoplasia of the earlobes Human Phenotype Ontology C1851792 HP:0009906 16 Feb 2016 Finding Aplasia/Hypoplasia of the Epiglottis Human Phenotype Ontology C4023790 HP:0010565 16 Feb 2016 Finding Aplasia/Hypoplasia of the external ear Human Phenotype Ontology C4024626 HP:0008772 16 Feb 2016 Finding Aplasia/hypoplasia of the extremities Human Phenotype Ontology C4551464 HP:0009815 16 Feb 2016 Finding Aplasia/Hypoplasia of the eyebrow Human Phenotype Ontology C4021956 HP:0100840 16 Feb 2016 Finding Aplasia/Hypoplasia of the eyelid Human Phenotype Ontology C4023453 HP:0011226 16 Feb 2016 Finding Aplasia/Hypoplasia of the fallopian tube Human Phenotype Ontology C4024646 HP:0008655 16 Feb 2016 Finding Aplasia/hypoplasia of the femur Human Phenotype Ontology C1851310 HP:0005613 16 Feb 2016 Finding Aplasia/Hypoplasia of the fibula Human Phenotype Ontology C1856732 HP:0006492 16 Feb 2016 Finding Aplasia/Hypoplasia of the fifth metatarsal bone Human Phenotype Ontology C4022480 HP:0040033 16 Feb 2016 Finding Aplasia/Hypoplasia of the fovea Human Phenotype Ontology C4024741 HP:0008060 16 Feb 2016 Finding Aplasia/Hypoplasia of the frontal sinuses Human Phenotype Ontology C4024588 HP:0009119 16 Feb 2016 Finding Aplasia/Hypoplasia of the gallbladder Human Phenotype Ontology C4023344 HP:0011466 16 Feb 2016 Finding Aplasia/Hypoplasia of the hallux Human Phenotype Ontology C1836213 HP:0008362 16 Feb 2016 Finding Aplasia/hypoplasia of the humerus Human Phenotype Ontology C4025031 HP:0006507 16 Feb 2016 Finding Aplasia/Hypoplasia of the inner ear Human Phenotype Ontology C4024625 HP:0008774 16 Feb 2016 Finding Aplasia/Hypoplasia of the iris Human Phenotype Ontology C4024748 HP:0008053 16 Feb 2016 Finding Aplasia/Hypoplasia of the lens Human Phenotype Ontology C4024738 HP:0008063 16 Feb 2016 Finding Aplasia/Hypoplasia of the lungs Human Phenotype Ontology C4024996 HP:0006703 16 Feb 2016 Finding Aplasia/Hypoplasia of the macula Human Phenotype Ontology C4024742 HP:0008059 16 Feb 2016 Finding Aplasia/Hypoplasia of the mandible Human Phenotype Ontology C4024589 HP:0009118 16 Feb 2016 Finding Aplasia/Hypoplasia of the maxilla Human Phenotype Ontology C4024590 HP:0009117 16 Feb 2016 Finding Aplasia/Hypoplasia of the middle ear Human Phenotype Ontology C4021529 HP:0008773 16 Feb 2016 Finding Aplasia/Hypoplasia of the middle phalanges of the hand Human Phenotype Ontology C1862152 HP:0009843 16 Feb 2016 Finding Aplasia/Hypoplasia of the middle phalanges of the toes Human Phenotype Ontology C4023976 HP:0010194 16 Feb 2016 Finding Aplasia/Hypoplasia of the middle phalanx of the 2nd finger Human Phenotype Ontology C1862144 HP:0009568 16 Feb 2016 Finding Aplasia/Hypoplasia of the middle phalanx of the 2nd toe Human Phenotype Ontology C4023851 HP:0010404 16 Feb 2016 Finding Aplasia/Hypoplasia of the middle phalanx of the 3rd finger Human Phenotype Ontology C4024361 HP:0009437 16 Feb 2016 Finding Aplasia/Hypoplasia of the middle phalanx of the 3rd toe Human Phenotype Ontology C4022119 HP:0100372 16 Feb 2016 Finding Aplasia/Hypoplasia of the middle phalanx of the 4th finger Human Phenotype Ontology C4024459 HP:0009299 16 Feb 2016 Finding Aplasia/Hypoplasia of the middle phalanx of the 4th toe Human Phenotype Ontology C4022118 HP:0100373 16 Feb 2016 Finding Aplasia/Hypoplasia of the middle phalanx of the 5th finger Human Phenotype Ontology C1834034 HP:0009161 16 Feb 2016 Finding Aplasia/Hypoplasia of the middle phalanx of the 5th toe Human Phenotype Ontology C4022117 HP:0100374 16 Feb 2016 Finding Aplasia/Hypoplasia of the musculature of the pelvis Human Phenotype Ontology C4025766 HP:0001471 16 Feb 2016 Finding Aplasia/Hypoplasia of the musculature of the thigh Human Phenotype Ontology C4024207 HP:0009786 16 Feb 2016 Finding Aplasia/Hypoplasia of the nails Human Phenotype Ontology C1859077 HP:0008386 16 Feb 2016 Finding Aplasia/Hypoplasia of the nasal bone Human Phenotype Ontology C4023636 HP:0010940 16 Feb 2016 Finding Aplasia/Hypoplasia of the nasal septum Human Phenotype Ontology C4024156 HP:0009935 16 Feb 2016 Finding Aplasia/Hypoplasia of the nipples Human Phenotype Ontology C3150086 HP:0006709 16 Feb 2016 Finding Aplasia/Hypoplasia of the optic nerve Human Phenotype Ontology C4024743 HP:0008058 16 Feb 2016 Finding Aplasia/Hypoplasia of the optic tract Human Phenotype Ontology C4023602 HP:0011000 16 Feb 2016 Finding Aplasia/Hypoplasia of the ovary Human Phenotype Ontology C4023818 HP:0010462 16 Feb 2016 Finding Aplasia/Hypoplasia of the palmar creases Human Phenotype Ontology C4023806 HP:0010488 16 Feb 2016 Finding Aplasia/Hypoplasia of the pancreas Human Phenotype Ontology C4021968 HP:0100800 16 Feb 2016 Finding Aplasia/Hypoplasia of the phalanges of the 2nd finger Human Phenotype Ontology C4024298 HP:0009552 16 Feb 2016 Finding Aplasia/Hypoplasia of the phalanges of the 2nd toe Human Phenotype Ontology C4023890 HP:0010347 16 Feb 2016 Finding Aplasia/Hypoplasia of the phalanges of the 3rd finger Human Phenotype Ontology C4024356 HP:0009447 16 Feb 2016 Finding Aplasia/Hypoplasia of the phalanges of the 3rd toe Human Phenotype Ontology C4023882 HP:0010359 16 Feb 2016 Finding Aplasia/Hypoplasia of the phalanges of the 4th finger Human Phenotype Ontology C4024384 HP:0009408 16 Feb 2016 Finding Aplasia/Hypoplasia of the phalanges of the 4th toe Human Phenotype Ontology C4023875 HP:0010371 16 Feb 2016 Finding Aplasia/Hypoplasia of the phalanges of the 5th finger Human Phenotype Ontology C4024410 HP:0009376 16 Feb 2016 Finding Aplasia/Hypoplasia of the phalanges of the 5th toe Human Phenotype Ontology C4023867 HP:0010383 16 Feb 2016 Finding Aplasia/Hypoplasia of the phalanges of the hallux Human Phenotype Ontology C4024079 HP:0010058 16 Feb 2016 Finding Aplasia/Hypoplasia of the phalanges of the hand Human Phenotype Ontology C1848670 HP:0009767 16 Feb 2016 Finding Aplasia/Hypoplasia of the phalanges of the thumb Human Phenotype Ontology C4024256 HP:0009658 16 Feb 2016 Finding Aplasia/Hypoplasia of the phalanges of the toes Human Phenotype Ontology C4023987 HP:0010173 16 Feb 2016 Finding Aplasia/Hypoplasia of the premaxilla Human Phenotype Ontology C4023713 HP:0010756 16 Feb 2016 Finding Aplasia/Hypoplasia of the proximal phalanges of the hand Human Phenotype Ontology C4024182 HP:0009851 16 Feb 2016 Finding Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger Human Phenotype Ontology C4024281 HP:0009580 16 Feb 2016 Finding Aplasia/hypoplasia of the proximal phalanx of the 2nd toe Human Phenotype Ontology C4023859 HP:0010395 16 Feb 2016 Finding Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger Human Phenotype Ontology C4024348 HP:0009457 16 Feb 2016 Finding Aplasia/hypoplasia of the proximal phalanx of the 3rd toe Human Phenotype Ontology C4022116 HP:0100375 16 Feb 2016 Finding Aplasia/Hypoplasia of the proximal phalanx of the 4th finger Human Phenotype Ontology C4020658 HP:0009300 16 Feb 2016 Finding Aplasia/hypoplasia of the proximal phalanx of the 4th toe Human Phenotype Ontology C4022115 HP:0100376 16 Feb 2016 Finding Aplasia/Hypoplasia of the proximal phalanx of the 5th finger Human Phenotype Ontology C4024544 HP:0009192 16 Feb 2016 Finding Aplasia/hypoplasia of the proximal phalanx of the 5th toe Human Phenotype Ontology C4022114 HP:0100377 16 Feb 2016 Finding Aplasia/Hypoplasia of the proximal phalanx of the hallux Human Phenotype Ontology C4024061 HP:0010085 16 Feb 2016 Finding Aplasia/Hypoplasia of the proximal phalanx of the thumb Human Phenotype Ontology C4024268 HP:0009629 16 Feb 2016 Finding Aplasia/Hypoplasia of the pubic bone Human Phenotype Ontology C1849305 HP:0009104 16 Feb 2016 Finding Aplasia/Hypoplasia of the pyramidal tract Human Phenotype Ontology C4024903 HP:0007363 16 Feb 2016 Finding Aplasia/Hypoplasia of the quadriceps Human Phenotype Ontology C4024206 HP:0009787 16 Feb 2016 Finding Aplasia/Hypoplasia of the radius Human Phenotype Ontology C2749463 HP:0006501 16 Feb 2016 Finding Aplasia/Hypoplasia of the retina Human Phenotype Ontology C4024740 HP:0008061 16 Feb 2016 Finding Aplasia/Hypoplasia of the ribs Human Phenotype Ontology C1847363 HP:0006712 16 Feb 2016 Finding Aplasia/Hypoplasia of the sacrum Human Phenotype Ontology C4024660 HP:0008517 16 Feb 2016 Finding Aplasia/Hypoplasia of the scapulae Human Phenotype Ontology C4024991 HP:0006713 16 Feb 2016 Finding Aplasia/Hypoplasia of the skin Human Phenotype Ontology C4024737 HP:0008065 16 Feb 2016 Finding Aplasia/Hypoplasia of the spleen Human Phenotype Ontology C4023823 HP:0010451 16 Feb 2016 Finding Aplasia/Hypoplasia of the sternum Human Phenotype Ontology C4024990 HP:0006714 16 Feb 2016 Finding Aplasia/Hypoplasia of the sweat glands Human Phenotype Ontology C4023520 HP:0011135 16 Feb 2016 Finding Aplasia/Hypoplasia of the tarsal bones Human Phenotype Ontology C1848671 HP:0008363 16 Feb 2016 Finding Aplasia/Hypoplasia of the testes Human Phenotype Ontology C4023817 HP:0010468 16 Feb 2016 Finding Aplasia/Hypoplasia of the thumb Human Phenotype Ontology C3179508 HP:0009601 16 Feb 2016 Finding Aplasia/Hypoplasia of the thymus Human Phenotype Ontology C4023796 HP:0010515 16 Feb 2016 Finding Aplasia/Hypoplasia of the tibia Human Phenotype Ontology C1969181 HP:0005772 16 Feb 2016 Finding Aplasia/Hypoplasia of the tongue Human Phenotype Ontology C4023916 HP:0010295 16 Feb 2016 Finding Aplasia/Hypoplasia of the tragus Human Phenotype Ontology C4024161 HP:0009913 16 Feb 2016 Finding Aplasia/Hypoplasia of the triceps Human Phenotype Ontology C4024208 HP:0009784 16 Feb 2016 Finding Aplasia/Hypoplasia of the ulna Human Phenotype Ontology C1865571 HP:0006495 16 Feb 2016 Finding Aplasia/hypoplasia of the uterus Human Phenotype Ontology C4024640 HP:0008684 16 Feb 2016 Finding Aplasia/Hypoplasia of the uvula Human Phenotype Ontology C4023917 HP:0010293 16 Feb 2016 Finding Aplasia/Hypoplasia of the vagina Human Phenotype Ontology C4023586 HP:0011026 16 Feb 2016 Finding Aplasia/Hypoplasia of the vertebrae Human Phenotype Ontology C4024662 HP:0008515 16 Feb 2016 Finding Aplasia/Hypoplasia of toe Human Phenotype Ontology C3551148 HP:0001991 16 Feb 2016 Finding Aplasia/Hypoplastia of the eccrine sweat glands Human Phenotype Ontology C1844618 HP:0007592 16 Feb 2016 Finding Aplastic anemia Human Phenotype Ontology C0002874 HP:0001915 609135 16 Feb 2016 Disease Aplastic anemia, susceptibility to NCBI curation C2684859 16 Feb 2016 Disease Aplastic clavicles Human Phenotype Ontology C1857665 HP:0006660 16 Feb 2016 Finding Aplastic colon Human Phenotype Ontology C4477085 HP:0500027 04 Apr 2018 Finding Aplastic nasopharyngeal adenoids Human Phenotype Ontology C4280690 HP:0040259 02 Apr 2017 Finding Aplastic pubic bones Human Phenotype Ontology C1848660 HP:0008817 16 Feb 2016 Finding Aplastic/hypoplastic lacrimal glands Human Phenotype Ontology C1835602 HP:0008038 16 Feb 2016 Finding Aplastic/Hypoplastic nasopharyngeal adenoids Human Phenotype Ontology C4280290 HP:0040256 02 Apr 2017 Finding Aplastic/hypoplastic toenail Human Phenotype Ontology C1856749 HP:0010624 16 Feb 2016 Finding Apnea Human Phenotype Ontology C0003578 HP:0002104 16 Feb 2016 Finding Apneic episodes in infancy Human Phenotype Ontology C3807980 HP:0005949 16 Feb 2016 Finding Apneic episodes precipitated by illness, fatigue, stress Human Phenotype Ontology C3806462 HP:0002872 16 Feb 2016 Finding Apo A-I deficiency 16 Feb 2016 Disease APOA1 deficiency NCBI curation CN130835 16 Feb 2016 Disease APOB POLYMORPHISM IN SIGNAL PEPTIDE 16 Feb 2016 Disease APOB-Related Disorders 23 May 2019 Disease Apocrine adenocarcinoma MONDO C0334346 MONDO:0003214 17 Apr 2020 Disease Apocrine adenoma MONDO C0334345 MONDO:0002804 17 Apr 2020 Disease Apocrine adenosis of breast MONDO C1332314 MONDO:0003726 17 Apr 2020 Disease Apocrine gland secretion, variation in NCBI curation C1861696 117800 16 Feb 2016 Disease Apocrine hidrocystoma Human Phenotype Ontology C1704335 HP:0031454 04 Apr 2018 Finding Apocrine sweat gland cancer MONDO C1334561 MONDO:0003215 17 Apr 2020 Disease Apocrine sweat gland disease MONDO MONDO:0024467 17 Apr 2020 Disease Apocrine sweat gland neoplasm MONDO C1332318 MONDO:0003686 17 Apr 2020 Disease Apodia, bilateral MONDO MONDO:0017505 17 Apr 2020 Disease Apodia, unilateral MONDO MONDO:0017504 17 Apr 2020 Disease APOE2 VARIANT 16 Feb 2016 Disease APOE2-DUNEDIN 16 Feb 2016 Disease APOE3 ISOFORM 16 Feb 2016 Disease APOE3 VARIANT 16 Feb 2016 Disease APOE3(-)-FREIBURG 16 Feb 2016 Disease APOE4 VARIANT 16 Feb 2016 Disease APOE4(+) 16 Feb 2016 Disease APOE4(-)-FREIBURG 16 Feb 2016 Disease APOE5 VARIANT 07 Oct 2017 Disease APOH POLYMORPHISM 16 Feb 2016 Disease APOLIPOPROTEIN A-I (BALTIMORE) 07 Sep 2019 Disease APOLIPOPROTEIN A-I (GIESSEN) 16 Feb 2016 Disease APOLIPOPROTEIN A-I (MARBURG) 16 Feb 2016 Disease APOLIPOPROTEIN A-I (MILANO) 16 Feb 2016 Disease APOLIPOPROTEIN A-I (MUNSTER3B) 16 Feb 2016 Disease APOLIPOPROTEIN A-I (MUNSTER3C) 16 Feb 2016 Disease APOLIPOPROTEIN A-I (MUNSTER4) 16 Feb 2016 Disease APOLIPOPROTEIN A-I (NORWAY) 16 Feb 2016 Disease Apolipoprotein A-I deficiency NCBI curation C0342898 20 Apr 2016 Disease Apolipoprotein A-II amyloidosis MONDO CN201610 MONDO:0016533 17 Apr 2020 Disease Apolipoprotein A-II deficiency NCBI curation C3888202 16 Feb 2016 Disease APOLIPOPROTEIN A-II DEFICIENCY, FAMILIAL, DUE TO APOA-II (HIROSHIMA) 16 Feb 2016 Disease APOLIPOPROTEIN A-IV POLYMORPHISM, APOA4*1/APOA4*2 16 Feb 2016 Disease APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*0 16 Feb 2016 Named protein variant APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*3 16 Feb 2016 Named protein variant APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*5 16 Feb 2016 Named protein variant Apolipoprotein C 2I deficiency 16 Feb 2016 Disease APOLIPOPROTEIN C-II (AFRICAN) 16 Feb 2016 Disease APOLIPOPROTEIN C-II (AUCKLAND) 16 Feb 2016 Disease APOLIPOPROTEIN C-II (BARI) 16 Feb 2016 Disease APOLIPOPROTEIN C-II (HAMBURG) 16 Feb 2016 Disease APOLIPOPROTEIN C-II (NIJMEGEN) 16 Feb 2016 Disease APOLIPOPROTEIN C-II (PADOVA) 16 Feb 2016 Disease APOLIPOPROTEIN C-II (PARIS) 16 Feb 2016 Disease APOLIPOPROTEIN C-II (SAN FRANCISCO) 16 Feb 2016 Disease APOLIPOPROTEIN C-II (ST. MICHAEL) 16 Feb 2016 Disease APOLIPOPROTEIN C-II (TORONTO) 16 Feb 2016 Disease APOLIPOPROTEIN C-II (WAKAYAMA) 16 Feb 2016 Disease Apolipoprotein c-ii variant NCBI curation 16 Feb 2016 Disease Apolipoprotein c-ii variants, molecular defect unknown NCBI curation 16 Feb 2016 Disease Apolipoprotein c-iii, nonglycosylated NCBI curation 16 Feb 2016 Disease Apolipoprotein C2 deficiency NCBI curation C1720779 207750 16 Feb 2016 Disease Apolipoprotein e, deficiency or defect of NCBI curation 16 Feb 2016 Disease APOLIPOPROTEIN(a), TYPE C POLYMORPHISM 16 Feb 2016 Disease APOLIPOPROTEIN(a), TYPE D POLYMORPHISM 16 Feb 2016 Disease Apolipoproteinemia E1 NCBI curation 16 Feb 2016 Disease Apolipoproteins a-i and c-iii, combined deficiency of NCBI curation 16 Feb 2016 Disease APP POLYMORPHISM 16 Feb 2016 Disease Apparent mineralocorticoid excess C3887949 218030 16 Feb 2016 Disease Apparent mineralocorticoid excess, mild NCBI curation C4017360 16 Feb 2016 Disease Appendiceal mucinous neoplasm Human Phenotype Ontology C4531082 HP:0031499 04 Apr 2018 Finding Appendiceal neoplasm MONDO C0003614 MONDO:0001236 17 Apr 2020 Disease Appendicitis MONDO C0003615 MONDO:0005649 17 Apr 2020 Disease Appendicitis, proneness to NCBI curation C1862632 107700 16 Feb 2016 Disease Appendicular hypotonia Human Phenotype Ontology C4022919 HP:0012389 16 Feb 2016 Finding appendicular lean mass relative to body height CN228655 16 Feb 2016 Finding Appendix adenocarcinoma MONDO C0238003 MONDO:0006087 17 Apr 2020 Disease Appendix adenoma MONDO C1706829 MONDO:0006088 17 Apr 2020 Disease Appendix cancer MONDO C0496779 MONDO:0001235 17 Apr 2020 Disease Appendix carcinoma MONDO C0728951 MONDO:0003196 17 Apr 2020 Disease Appendix hyperplastic polyp MONDO C3272761 MONDO:0006090 17 Apr 2020 Disease Appendix L-cell glucagon-like peptide-producing neuroendocrine tumor MONDO C3274138 MONDO:0021101 17 Apr 2020 Disease Appendix leiomyoma MONDO C1332327 MONDO:0003300 17 Apr 2020 Disease Appendix lymphoma MONDO C1332328 MONDO:0001237 17 Apr 2020 Disease Appendix mucinous cystadenocarcinoma MONDO C1096639 MONDO:0002703 17 Apr 2020 Disease Appendix neuroendocrine tumor G1 MONDO C0334298 MONDO:0006091 17 Apr 2020 Disease Appendix villous adenoma MONDO C1332329 MONDO:0006092 17 Apr 2020 Disease Apperceptive agnosia MONDO MONDO:0000664 17 Apr 2020 Disease Apple allergy MONDO MONDO:0000779 17 Apr 2020 Disease Apraxia Human Phenotype Ontology C0003635 HP:0002186 16 Feb 2016 Finding Apraxia manual 16 Feb 2016 Disease Apraxia of eyelid opening NCBI curation C1864184 603119 16 Feb 2016 Disease Apricot allergy MONDO MONDO:0000780 17 Apr 2020 Disease Aprosencephaly Human Phenotype Ontology C0431349 HP:0007268 16 Feb 2016 Finding Aprosencephaly and cerebellar dysgenesis NCBI curation C1832412 601374 16 Feb 2016 Disease APRT deficiency, Japanese type NCBI curation C0268121 16 Feb 2016 Disease APUdoma Human Phenotype Ontology C0003650 HP:0040192 19 Mar 2018 Disease Aquagenic epilepsy NCBI curation C4551550 613339 16 Feb 2016 Disease Aquagenic palmoplantar keratoderma MONDO MONDO:0044663 17 Apr 2020 Disease Aquagenic pruritus C0406409 16 Feb 2016 Disease Aquagenic urticaria C0263334 191850 16 Feb 2016 Disease Aquaporin 1 deficiency NCBI curation 16 Feb 2016 Disease Aquarium granuloma MONDO C0275708 MONDO:0043314 04 Jun 2020 Infectious disease Aqueductal stenosis Human Phenotype Ontology C2936786 HP:0002410 16 Feb 2016 Finding Aqueductal stenosis, X-linked, Hydrocephalus due to congenital stenosis of aqueduct of sylvius, X-Linked Hydrocephalus with Stenosis of the Aqueduct of Sylvius, X-linked hydrocephalus CN220539 16 Feb 2016 Disease Aqueous misdirection MONDO MONDO:0001206 17 Apr 2020 Disease Arachindonic acid, absence of 16 Feb 2016 Disease Arachnodactyly Human Phenotype Ontology C0003706 HP:0001166 16 Feb 2016 Finding arachnodactyly in the hands and feet 05 Sep 2018 Finding Arachnodactyly mental retardation dysmorphism 16 Feb 2016 Disease Arachnodactyly-abnormal ossification-intellectual disability syndrome MONDO C2931398 MONDO:0015234 17 Apr 2020 Disease Arachnodactyly-intellectual disability-dysmorphism syndrome MONDO CN197590 MONDO:0015235 17 Apr 2020 Disease arachnodctyly 02 Mar 2020 Finding Arachnoid cyst Human Phenotype Ontology C0078981 HP:0100702 16 Feb 2016 Finding Arachnoid cysts 16 Feb 2016 Disease Arachnoid cysts, intracranial NCBI curation C0751615 207790 16 Feb 2016 Disease Arachnoid hemangiomatosis Human Phenotype Ontology C4022998 HP:0012222 16 Feb 2016 Finding Arakawa syndrome 2 MONDO C0268611 MONDO:0021915 17 Apr 2020 Disease Arakawa's syndrome 2 16 Feb 2016 Disease Arbovirus fever MONDO CN281842 MONDO:0018093 17 Apr 2020 Infectious disease Arbovirus infection MONDO C0003723 MONDO:0020731 04 Jun 2020 Infectious disease arched palate 22 Aug 2019 Finding Arcuate scotoma Human Phenotype Ontology C0271198 HP:0030530 16 Feb 2016 Finding Arcus senilis MONDO C0003742 MONDO:0007150 107800 17 Apr 2020 Disease Arcus senilis Human Phenotype Ontology C0003742 HP:0001084 107800 17 Apr 2020 Disease Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines Human Phenotype Ontology C4024886 HP:0007402 16 Feb 2016 Finding Areflexia Human Phenotype Ontology C0234146 HP:0001284 16 Feb 2016 Finding Areflexia of lower limbs Human Phenotype Ontology C1856694 HP:0002522 16 Feb 2016 Finding Areflexia of upper limbs Human Phenotype Ontology C2674177 HP:0012046 16 Feb 2016 Finding Aregenerative anemia MONDO C0553669 MONDO:0015100 17 Apr 2020 Disease Arena syndrome C2931491 16 Feb 2016 Disease Arenaviridae infectious disease MONDO CN281766 MONDO:0005650 04 Jun 2020 Infectious disease Arenavirus hemorrhagic fever MONDO C0153112 MONDO:0005651 04 Jun 2020 Infectious disease Arene oxide detoxification defect NCBI curation 16 Feb 2016 Disease Argentine hemorrhagic fever MONDO C0019097 MONDO:0017874 04 Jun 2020 Infectious disease Arginase deficiency C0268548 207800 16 Feb 2016 Disease Arginine:glycine amidinotransferase deficiency NCBI curation C2675179 612718 16 Feb 2016 Disease Argininosuccinate lyase deficiency C0268547 207900 16 Feb 2016 Disease Argininuria Human Phenotype Ontology C4025635 HP:0003268 16 Feb 2016 Finding Argyll Robertson pupil MONDO C0234668 MONDO:0001986 17 Apr 2020 Disease Argyria MONDO MONDO:0018952 17 Apr 2020 Disease Argyrophilic inclusion bodies Human Phenotype Ontology C4021022 HP:0100317 02 Apr 2017 Finding Arhinia choanal atresia microphthalmia C1863878 603457 16 Feb 2016 Disease Ariboflavinosis MONDO MONDO:0004573 17 Apr 2020 Disease Arima syndrome NCBI curation C1855675 243910 24 Aug 2016 Disease Aripiprazole Lauroxil Response CN282541 17 Jun 2020 Pharmacological response Aripiprazole response NCBI curation CN077955 16 Feb 2016 Pharmacological response aripiprazole response - Toxicity/ADR PharmGKB CN236480 1446898992 18 May 2016 Pharmacological response Arm folding preference NCBI curation C1862535 107850 16 Feb 2016 Disease ARMC9-related Joubert syndrome CN262509 22 Jun 2017 Disease Armfield X-linked mental retardation syndrome NCBI curation C1846057 300261 16 Feb 2016 Disease Arms, malformation of NCBI curation C1862534 107900 16 Feb 2016 Disease Arnold Stickler Bourne syndrome C2931492 16 Feb 2016 Disease Arnold-Chiari malformation Human Phenotype Ontology C0003803 HP:0002308 16 Feb 2016 Finding Arnold-Chiari syndrome withoutut spina bifida or hydrocephalus 05 Sep 2019 Finding Arnold-Chiari type I malformation Human Phenotype Ontology C1857474 HP:0007099 16 Feb 2016 Finding Aromatase deficiency C1960539 613546 16 Feb 2016 Disease Aromatase excess syndrome MONDO C1970109 MONDO:0007690 139300 05 May 2020 Disease Array 21 Jan 2020 Finding Arrhinencephaly Human Phenotype Ontology C0078982 HP:0002139 16 Feb 2016 Finding Arrhythmia Human Phenotype Ontology C0855329 HP:0011675 16 Feb 2016 Finding Arrhythmogenic cardiomyopathy CN280864 01 May 2020 Disease Arrhythmogenic right ventricular cardiomyopathy NCBI curation C0349788 16 Feb 2016 Disease Arrhythmogenic right ventricular cardiomyopathy ? NCBI curation 16 Feb 2016 Disease Arrhythmogenic right ventricular cardiomyopathy, type 10 NCBI curation C1857777 610193 16 Feb 2016 Disease Arrhythmogenic right ventricular cardiomyopathy, type 11 NCBI curation C1864850 610476 16 Feb 2016 Disease Arrhythmogenic right ventricular cardiomyopathy, type 12 NCBI curation C1969081 611528 16 Feb 2016 Disease Arrhythmogenic right ventricular cardiomyopathy, type 5 NCBI curation C1858379 604400 16 Feb 2016 Disease Arrhythmogenic right ventricular cardiomyopathy, type 8 NCBI curation C1843896 607450 16 Feb 2016 Disease Arrhythmogenic right ventricular cardiomyopathy, type 9 NCBI curation C1836906 609040 16 Feb 2016 Disease Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair CN258960 12 Jun 2019 Disease Arrhythmogenic right ventricular dysplasia, familial 1 NCBI curation C1862511 107970 07 Aug 2016 Disease Arrhythmogenic right ventricular dysplasia, familial, 11, and mild palmoplantar keratoderma with or without woolly hair CN236735 05 Jul 2016 Disease Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair NCBI curation CN128708 16 Feb 2016 Disease ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA 10 Jun 2016 Disease Arrhythmogenic right ventricular dysplasia, familial, 13 NCBI curation C3810138 615616 16 Feb 2016 Disease ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14 OMIM CN283234 618920 618920 25 Jun 2020 Disease Arrhythmogenic right ventricular dysplasia, familial, 2 NCBI curation C1832931 600996 07 Aug 2016 Disease Arrhythmogenic right ventricular dysplasia, familial, 3 NCBI curation C1865882 602086 07 Aug 2016 Disease Arrhythmogenic right ventricular dysplasia, familial, 4 NCBI curation C1865881 602087 07 Aug 2016 Disease Arrhythmogenic right ventricular dysplasia, familial, 6 NCBI curation C1858378 604401 07 Aug 2016 Disease Arrhythmogenic right ventricular dysplasia, familial, 7 NCBI curation C1836704 609160 24 Aug 2016 Disease Arrhythmogenic right ventricular dysplasia/cardiomyopathy CN221565 16 Feb 2016 Disease Arrhythmogenic right ventricular dysplasia/cardiomyopathy ? NCBI curation 16 Feb 2016 Disease Arrhythmogenic ventricular cardiomyopathy 01 Nov 2018 Disease Arroyo Garcia Cimadevilla syndrome C2931494 16 Feb 2016 Disease Arsenic Trioxide response NCBI curation CN077958 16 Feb 2016 Pharmacological response Arteria lusoria Human Phenotype Ontology C2004632 HP:0031014 04 Apr 2018 Finding Arterial calcification Human Phenotype Ontology C1168153 HP:0003207 16 Feb 2016 Finding Arterial calcification due to CD73 deficiency 16 Feb 2016 Disease Arterial calcification, generalized, of infancy, 1 NCBI curation C4551985 208000 22 Dec 2019 Disease Arterial disorder MONDO C0852949 MONDO:0000473 17 Apr 2020 Disease Arterial dissection Human Phenotype Ontology C0002949 HP:0005294 16 Feb 2016 Finding Arterial dissection with lentiginosis NCBI curation C1838122 600459 16 Feb 2016 Disease Arterial duct anomaly MONDO CN227699 MONDO:0019822 17 Apr 2020 Disease Arterial fibromuscular dysplasia Human Phenotype Ontology C0016052 HP:0005313 135580 16 Feb 2016 Disease Arterial intimal fibrosis Human Phenotype Ontology C4023403 HP:0011353 16 Feb 2016 Finding Arterial occlusion Human Phenotype Ontology C0264995 HP:0025324 02 Apr 2017 Finding Arterial rupture Human Phenotype Ontology C0155760 HP:0025019 02 Apr 2017 Finding Arterial stenosis Human Phenotype Ontology C0038449 HP:0100545 16 Feb 2016 Finding Arterial thoracic outlet syndrome MONDO C1956395 MONDO:0018164 17 Apr 2020 Disease Arterial thrombosis Human Phenotype Ontology C0151942 HP:0004420 16 Feb 2016 Finding Arterial tortuosity Human Phenotype Ontology C3279191 HP:0005116 16 Feb 2016 Finding Arterial tortuosity syndrome NCBI curation C1859726 208050 26 May 2016 Disease Arteries, anomalies of NCBI curation C1876179 108000 16 Feb 2016 Disease Arteriohepatic dysplasia NCBI curation C0085280 16 Feb 2016 Disease Arteriolosclerosis MONDO C0878486 MONDO:0006658 17 Apr 2020 Disease Arteriosclerosis PharmGKB C0003850 18 May 2016 Disease Arteriosclerosis Human Phenotype Ontology C0003850 HP:0002634 18 May 2016 Disease Arteriosclerosis disorder MONDO MONDO:0002277 17 Apr 2020 Disease Arteriosclerosis obliterans MONDO C0003851 MONDO:0006659 17 Apr 2020 Disease Arteriosclerosis of small cerebral arteries Human Phenotype Ontology C4025270 HP:0004931 16 Feb 2016 Finding Arteriosclerosis, severe juvenile NCBI curation C1859725 208060 16 Feb 2016 Disease Arteriosclerosis;Heart Diseases;Hemorrhage;Intracranial Hemorrhages;Myocardial Infarction;Peripheral Vascular Diseases;Pulmonary Embolism;Stroke;Thromboembolism;venous thromboembolism;Venous Thrombosis PharmGKB 17 Feb 2017 Disease Arteriovenous fistula Human Phenotype Ontology C0003855 HP:0004947 16 Feb 2016 Finding Arteriovenous fistula of pulmonary vessels C0155675 265140 16 Feb 2016 Disease Arteriovenous fistulas of celiac and mesenteric vessels Human Phenotype Ontology C1857693 HP:0002642 16 Feb 2016 Finding Arteriovenous hemangioma/malformation MONDO C0334533 MONDO:0001256 17 Apr 2020 Disease Arteriovenous malformation Human Phenotype Ontology C0003857 HP:0100026 16 Feb 2016 Finding Arteriovenous malformation of the lip Human Phenotype Ontology C4531088 HP:0031488 04 Apr 2018 Finding Arteriovenous malformation of the maxilla Human Phenotype Ontology C4531242 HP:0031257 04 Apr 2018 Finding Arteritic anterior ischemic optic neuropathy MONDO C2242711 MONDO:0000498 17 Apr 2020 Disease Arteritis Human Phenotype Ontology C0003860 HP:0012089 16 Feb 2016 Finding Arteritis, familial granulomatous, with juvenile polyarthritis NCBI curation C1862510 108050 16 Feb 2016 Disease Arterivirus infectious disease MONDO C0206604 MONDO:0005652 04 Jun 2020 Infectious disease Arthralgia Human Phenotype Ontology C0003862 HP:0002829 16 Feb 2016 Finding Arthralgia of the hip Human Phenotype Ontology C0019559 HP:0003365 16 Feb 2016 Finding Arthralgia/arthritis Human Phenotype Ontology C4025256 HP:0005059 16 Feb 2016 Finding Arthritis Human Phenotype Ontology C0003864 HP:0001369 16 Feb 2016 Finding Arthritis short stature deafness 16 Feb 2016 Disease Arthritis, Psoriatic PharmGKB C0003872 18 May 2016 Disease Arthritis, Psoriatic;Arthritis, Rheumatoid;Crohn Disease;Inflammation;Psoriasis;Spondylitis, Ankylosing PharmGKB 17 Feb 2017 Disease Arthritis, sacroiliac MONDO C0748473 MONDO:0007156 108100 22 Apr 2020 Disease Arthrogryphosis 18 Jul 2019 Disease Arthrogryposis and ectodermal dysplasia C1866427 601701 16 Feb 2016 Disease Arthrogryposis due to muscular dystrophy 16 Feb 2016 Disease Arthrogryposis epileptic seizures migrational brain disorder C2931495 16 Feb 2016 Disease Arthrogryposis IUGR thoracic dystrophy 16 Feb 2016 Disease Arthrogryposis multiplex congenita Human Phenotype Ontology C0003886 HP:0002804 16 Feb 2016 Finding Arthrogryposis multiplex congenita CNS calcification 16 Feb 2016 Disease Arthrogryposis multiplex congenita distal 16 Feb 2016 Disease Arthrogryposis multiplex congenita pulmonary hypoplasia 16 Feb 2016 Disease Arthrogryposis multiplex congenita, distal type 2 C2930889 16 Feb 2016 Disease ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE OMIM C5193121 618484 618484 13 Jul 2019 Disease ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM OMIM C5231494 618766 618766 07 Feb 2020 Disease Arthrogryposis multiplex congenita, neurogenic, with myelin defect NCBI curation C4479539 617468 20 Jun 2017 Disease Arthrogryposis multiplex congenita-whistling face syndrome MONDO C1859711 MONDO:0008825 208155 17 Apr 2020 Disease Arthrogryposis multiplex with deafness, inguinal hernias, and early death C1864939 610001 16 Feb 2016 Disease Arthrogryposis ophthalmoplegia retinopathy 16 Feb 2016 Disease Arthrogryposis spinal muscular atrophy 16 Feb 2016 Disease Arthrogryposis syndrome MONDO CN261653 MONDO:0015225 17 Apr 2020 Disease Arthrogryposis with renal dysfunction and cholestasis syndrome NCBI curation C4551984 21 Jan 2020 Disease ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT OMIM C4748872 618265 618265 04 Jan 2019 Disease Arthrogryposis, congenital, lower limb, X-linked NCBI curation C1846273 300158 16 Feb 2016 Disease Arthrogryposis, distal, type 2A (Freeman-Sheldon) CN258961 12 Jun 2019 Disease ARTHROGRYPOSIS, DISTAL, TYPE 2B2 OMIM C5193097 618435 618435 18 May 2019 Disease ARTHROGRYPOSIS, DISTAL, TYPE 2B3 OMIM C5193098 618436 618436 18 May 2019 Disease Arthrogryposis, distal, type 2B3 (Sheldon-Hall) CN258962 12 Jun 2019 Disease ARTHROGRYPOSIS, DISTAL, TYPE 2B4 CN258394 18 May 2019 Disease Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies NCBI curation C1859724 16 Feb 2016 Disease Arthrogryposis, distal, with impaired proprioception and touch NCBI curation C4310692 617146 20 Jun 2017 Disease Arthrogryposis, distal, with mental retardation and characteristic facies NCBI curation C1859723 208081 16 Feb 2016 Disease Arthrogryposis, mental retardation, and seizures NCBI curation C3809910 615553 16 Feb 2016 Disease Arthrogryposis, perthes disease, and upward gaze palsy NCBI curation C3280309 614262 16 Feb 2016 Disease Arthrogryposis, renal dysfunction, and cholestasis 1 NCBI curation C1859722 208085 21 Jan 2020 Disease Arthrogryposis, renal dysfunction, and cholestasis 2 NCBI curation C3150672 613404 16 Feb 2016 Disease Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome MONDO C1862472 MONDO:0007158 108145 17 Apr 2020 Disease Arthrogryposis-hyperkeratosis syndrome, lethal form MONDO C1859710 MONDO:0008826 208158 17 Apr 2020 Disease Arthrogryposis-like hand anomaly Human Phenotype Ontology C4025173 HP:0005612 16 Feb 2016 Finding Arthrogryposis-like hand anomaly-sensorineural deafness syndrome MONDO C1862471 MONDO:0007159 108200 17 Apr 2020 Disease Arthrogryposis-like syndrome MONDO C3839326 MONDO:0015241 17 Apr 2020 Disease Arthropathy Human Phenotype Ontology C0022408 HP:0003040 16 Feb 2016 Finding Arthropathy, erosive NCBI curation C1853829 605935 16 Feb 2016 Disease Arthus reaction MONDO C0003907 MONDO:0006660 17 Apr 2020 Disease Arthyrgryposis, distal, type 2B CN233042 16 Feb 2016 Disease Artichoke, modification of taste by NCBI curation C1862464 108320 16 Feb 2016 Disease Articular cartilage disease MONDO C0158073 MONDO:0003816 17 Apr 2020 Disease articulation disorder C0003910 18 Jan 2019 Finding Arts syndrome C0796028 301835 16 Feb 2016 Disease ARV1-related condition CN235539 16 Mar 2016 Disease ARX-associated condition 02 Aug 2019 Finding ARX-related encephalopathy-brain malformation spectrum MONDO CN237502 MONDO:0018496 17 Apr 2020 Disease ARX-related epileptic encephalopathy MONDO CN228994 MONDO:0015921 17 Apr 2020 Disease Aryepiglottic fold cancer MONDO MONDO:0004637 17 Apr 2020 Disease Aryl hydrocarbon hydroxylase inducibility NCBI curation C1862463 108340 16 Feb 2016 Disease ARYLSULFATASE A POLYMORPHISM 16 Feb 2016 Disease Arylsulfatase A pseudodeficiency NCBI curation C4017091 16 Feb 2016 Disease Arylsulfatase a pseudodeficiency, intermediate NCBI curation C4017096 16 Feb 2016 Disease Arylsulfatase a pseudodeficiency, severe NCBI curation C4017095 16 Feb 2016 Disease Arylsulfatase a, allele a NCBI curation 16 Feb 2016 Disease ARYLSULFATASE A, ALLELE I 16 Feb 2016 Disease Asbestos-related lung carcinoma MONDO C1332337 MONDO:0004295 17 Apr 2020 Disease Asbestosis NCBI curation C0003949 16 Feb 2016 Disease Ascariasis MONDO C0003950 MONDO:0005654 04 Jun 2020 Infectious disease Ascaridiasis MONDO C0003952 MONDO:0005655 04 Jun 2020 Infectious disease Ascaridida infectious disease MONDO CN281767 MONDO:0005656 04 Jun 2020 Infectious disease Ascaris lumbricoides infection, susceptibility to NCBI curation C1858580 604291 16 Feb 2016 Disease Ascending aorta anomaly MONDO C0345043 MONDO:0020293 17 Apr 2020 Disease Ascending aortic dilation Human Phenotype Ontology C0345049 HP:0004970 16 Feb 2016 Finding Ascending aortic dissection Human Phenotype Ontology C1836653 HP:0004933 16 Feb 2016 Finding Ascending cholangitis MONDO C0311273 MONDO:0001929 17 Apr 2020 Disease Ascending colon neuroendocrine tumor G1 MONDO C1332340 MONDO:0006093 17 Apr 2020 Disease Ascher's syndrome C0339085 109900 16 Feb 2016 Disease Ascites Human Phenotype Ontology C0003962 HP:0001541 16 Feb 2016 Finding ascites (nonmalignant) 14 Mar 2019 Finding Ascorbic acid deficiency MONDO MONDO:0006661 17 Apr 2020 Disease ASD CN232550 16 Feb 2016 Finding ASD _ Cardiovascular (child onset) CN232481 16 Feb 2016 Finding ASD _ Craniofacial (child onset) CN232482 16 Feb 2016 Finding ASD _ Musculoskeletal/Structural (child onset) CN232483 16 Feb 2016 Finding ASD _ Neurologic (child onset) CN232484 16 Feb 2016 Finding Asd i NCBI curation 16 Feb 2016 Disease Aseptic leukocyturia Human Phenotype Ontology C0281986 HP:0100586 16 Feb 2016 Finding Aseptic meningitis MONDO C0025290 MONDO:0006662 17 Apr 2020 Disease Aseptic necrosis Human Phenotype Ontology C0027543 HP:0010885 16 Feb 2016 Finding Ash-leaf spot Human Phenotype Ontology C4073125 HP:0030679 02 Apr 2017 Finding ASH1L-related neurodevelopmental disorders 21 May 2020 Disease Asherman's syndrome 16 Feb 2016 Disease Ashkenazi Jewish disorders NCBI curation CN118946 16 Feb 2016 Disease Askin tumor NCBI curation C0877849 16 Feb 2016 Disease asparaginase response - Toxicity/ADR PharmGKB 1448632697PA448492 06 Jul 2018 Pharmacological response Asparagine synthetase deficiency NCBI curation C3809971 615574 16 Feb 2016 Disease Asparagus, specific smell hypersensitivity NCBI curation C1862460 108390 16 Feb 2016 Disease Aspartate aminotransferase, serum level of, quantitative trait locus 1 NCBI curation C3280741 614419 16 Feb 2016 Disease Aspartylglucosaminuria Human Phenotype Ontology C0268225 HP:0012068 208400 19 Mar 2018 Disease Aspartylglucosaminuria, finnish type NCBI curation C4017301 16 Feb 2016 Disease Asperger syndrome 1 NCBI curation C1837646 608638 16 Feb 2016 Disease Asperger syndrome 2 NCBI curation C1837697 608631 16 Feb 2016 Disease Asperger syndrome 3 NCBI curation C1837434 608781 16 Feb 2016 Disease Asperger syndrome 4 NCBI curation C1864961 609954 16 Feb 2016 Disease Asperger syndrome X-linked 1 NCBI curation C1845341 300494 16 Feb 2016 Disease Asperger syndrome X-linked 2 NCBI curation C1845334 300497 16 Feb 2016 Disease Asperger's disease NCBI curation C0236792 19 Jan 2017 Disease Aspergillosis C0004030 16 Feb 2016 Infectious disease Aspergillosis, susceptibility to NCBI curation C3279774 614079 16 Feb 2016 Disease Aspergillus niger infection C0276657 16 Feb 2016 Infectious disease Asphyxia neonatorum 16 Feb 2016 Disease Asphyxiating thoracic dystrophy 2 NCBI curation C1970005 611263 16 Feb 2016 Disease Asphyxiating thoracic dystrophy 4 NCBI curation C3151185 613819 16 Feb 2016 Disease Asphyxiating thoracic dystrophy 5 NCBI curation C3280598 614376 16 Feb 2016 Disease Aspiration Human Phenotype Ontology C2712334 HP:0002835 16 Feb 2016 Finding Aspiration pneumonia Human Phenotype Ontology C0032290 HP:0011951 16 Feb 2016 Finding Aspiration pneumonia (disease) MONDO CN281916 MONDO:0000265 04 Jun 2020 Infectious disease Aspiration pneumonitis MONDO C1761609 MONDO:0002572 17 Apr 2020 Disease Aspirin allergy MONDO MONDO:0025518 17 Apr 2020 Disease Aspirin resistance NCBI curation C1842372 608223 16 Feb 2016 Disease aspirin response - Efficacy PharmGKB CN236481 1043858980 18 May 2016 Pharmacological response aspirin response - Toxicity/ADR PharmGKB CN236482 613979643 18 May 2016 Pharmacological response Aspirin-induced asthma Human Phenotype Ontology C1319853 HP:0012042 16 Feb 2016 Finding Asplenia Human Phenotype Ontology C0600031 HP:0001746 16 Feb 2016 Finding Asplenia, isolated congenital NCBI curation C0685889 271400 24 Aug 2016 Disease Assessment for HBOC syndrome CN244053 08 Jun 2017 Finding Association with the PWS phenotype 21 Jan 2020 Finding Association with valproate-induced liver toxicity 05 Feb 2020 Disease Associative visual agnosia MONDO MONDO:0000666 17 Apr 2020 Disease Assymetric face 30 Jul 2019 Finding Astasia Human Phenotype Ontology C0234966 HP:0020037 04 Apr 2018 Finding Astereognosia Human Phenotype Ontology C0234505 HP:0010527 16 Feb 2016 Finding Astereognosia (disease) MONDO MONDO:0000680 17 Apr 2020 Disease Asterixis Human Phenotype Ontology C0232766 HP:0012164 16 Feb 2016 Finding Asternia Human Phenotype Ontology C4023912 HP:0010308 16 Feb 2016 Disease Asternia with Cardiac, Diaphragmatic, and Abdominal defects 16 Feb 2016 Disease Asteroid hyalosis Human Phenotype Ontology C0521770 HP:0030672 02 Apr 2017 Finding Asthenia Human Phenotype Ontology C0004093 HP:0025406 04 Apr 2018 Finding Asthenopia Human Phenotype Ontology C0004095 HP:0031590 04 Apr 2018 Finding asthenozoospermia C4082176 30 Jun 2018 Disease Asthma PharmGKB C0004096 18 May 2016 Finding Asthma Human Phenotype Ontology C0004096 HP:0002099 18 May 2016 Finding Asthma and atopy, susceptibility to NCBI curation 16 Feb 2016 Disease Asthma and nasal polyps NCBI curation C1858067 16 Feb 2016 Disease Asthma, aspirin-induced, susceptibility to NCBI curation C1876174 16 Feb 2016 Disease Asthma, atopic NCBI curation C0155877 16 Feb 2016 Disease Asthma, diminished response to antileukotriene treatment in NCBI curation C1833270 16 Feb 2016 Disease Asthma, nasal polyps, and aspirin intolerance NCBI curation C1859648 208550 16 Feb 2016 Disease Asthma, nocturnal, susceptibility to NCBI curation 16 Feb 2016 Disease Asthma, protection against NCBI curation C1833269 16 Feb 2016 Disease Asthma, severe, susceptibility to NCBI curation 16 Feb 2016 Disease Asthma, short stature, and elevated iga NCBI curation C1859647 208600 16 Feb 2016 Disease Asthma, susceptibility to NCBI curation C1869116 600807 16 Feb 2016 Disease Asthma-related traits, susceptibility to, 1 NCBI curation C1846534 607277 24 Aug 2016 Disease Asthma-related traits, susceptibility to, 2 NCBI curation C1837811 608584 24 Aug 2016 Disease Asthma-related traits, susceptibility to, 3 NCBI curation C1864959 609958 24 Aug 2016 Disease Asthma-related traits, susceptibility to, 4 NCBI curation C1970474 610906 24 Aug 2016 Disease Asthma-related traits, susceptibility to, 5 NCBI curation C1970224 611064 24 Aug 2016 Disease Asthma-related traits, susceptibility to, 6 NCBI curation C1969640 611403 24 Aug 2016 Disease Asthma-related traits, susceptibility to, 7 NCBI curation C2677770 611960 24 Aug 2016 Disease Asthma-related traits, susceptibility to, 8 NCBI curation C2750782 613207 24 Aug 2016 Disease Astigmatism Human Phenotype Ontology C0004106 HP:0000483 603047 16 Feb 2016 Disease Astley-Kendall dysplasia NCBI curation C1300228 16 Feb 2016 Disease Astrakhan spotted fever MONDO CN281882 MONDO:0024473 04 Jun 2020 Infectious disease Astroblastoma C0334587 16 Feb 2016 Disease Astrocytoma Human Phenotype Ontology C0004114 HP:0009592 16 Feb 2016 Disease Astrocytoma, anaplastic NCBI curation C0334579 07 Mar 2018 Disease Astrocytoma, low-grade, somatic NCBI curation C2674727 16 Feb 2016 Disease Astrocytosis Human Phenotype Ontology C3887640 HP:0002446 16 Feb 2016 Finding Astroviridae infectious disease MONDO C0376550 MONDO:0005658 04 Jun 2020 Infectious disease asymmetnc crying face 05 Sep 2019 Finding Asymmetric crying face Human Phenotype Ontology C4023410 HP:0011333 16 Feb 2016 Finding Asymmetric crying face association NCBI curation C0431406 125520 16 Feb 2016 Disease Asymmetric Face 01 Aug 2019 Finding Asymmetric growth Human Phenotype Ontology C4022025 HP:0100555 16 Feb 2016 Finding Asymmetric limb muscle stiffness Human Phenotype Ontology C4024931 HP:0007156 16 Feb 2016 Finding Asymmetric motor neuropathy MONDO C1332341 MONDO:0004280 17 Apr 2020 Disease Asymmetric peripheral demyelination Human Phenotype Ontology C4022598 HP:0030176 16 Feb 2016 Finding Asymmetric radial dysplasia Human Phenotype Ontology C1969396 HP:0006420 16 Feb 2016 Finding Asymmetric septal hypertrophy Human Phenotype Ontology C0205700 HP:0001670 16 Feb 2016 Finding Asymmetric short stature Human Phenotype Ontology C4024614 HP:0008929 16 Feb 2016 Finding Asymmetric short stature syndrome NCBI curation C1862458 108450 16 Feb 2016 Disease asymmetric thorax 22 Aug 2019 Finding Asymmetric ventricles Human Phenotype Ontology C4021909 HP:0100960 16 Feb 2016 Finding Asymmetric, linear skin defects Human Phenotype Ontology C4024888 HP:0007398 16 Feb 2016 Finding Asymmetrical distribution of flash visual evoked potentials Human Phenotype Ontology C4072953 HP:0030463 16 Feb 2016 Finding Asymmetrical distribution of pattern reversal visual evoked potentials Human Phenotype Ontology C4072954 HP:0030464 16 Feb 2016 Finding Asymmetry of intraocular pressure Human Phenotype Ontology C3805901 HP:0012633 16 Feb 2016 Finding Asymmetry of iris pigmentation Human Phenotype Ontology CN176561 HP:0200064 16 Feb 2016 Finding Asymmetry of spinal facet joints Human Phenotype Ontology C4024669 HP:0008482 16 Feb 2016 Finding Asymmetry of the ears Human Phenotype Ontology C1168239 HP:0010722 16 Feb 2016 Finding Asymmetry of the mandible Human Phenotype Ontology C0399518 HP:0009940 16 Feb 2016 Finding Asymmetry of the maxilla Human Phenotype Ontology C0399519 HP:0010755 16 Feb 2016 Finding Asymmetry of the mouth Human Phenotype Ontology C4024153 HP:0009941 16 Feb 2016 Finding Asymmetry of the nares Human Phenotype Ontology C4024157 HP:0009930 16 Feb 2016 Finding Asymmetry of the position of the ears Human Phenotype Ontology C4022444 HP:0040093 16 Feb 2016 Finding Asymmetry of the shape of the ears Human Phenotype Ontology C4022445 HP:0040092 16 Feb 2016 Finding Asymmetry of the size of ears Human Phenotype Ontology C4022446 HP:0040091 16 Feb 2016 Finding Asymmetry of the thorax Human Phenotype Ontology C1858033 HP:0001555 16 Feb 2016 Finding Asymptomatic C0231221 16 Feb 2016 Finding Asymptomatic dengue MONDO CN281915 MONDO:0000259 04 Jun 2020 Infectious disease Asymptomatic hyperammonemia Human Phenotype Ontology C4021552 HP:0008162 16 Feb 2016 Finding Asymptomatic neurosyphilis MONDO C0153167 MONDO:0000927 04 Jun 2020 Infectious disease Asymptomatic peripheral arterial disease of the lower limbs 25 Oct 2017 Finding Asynchronous multifocal osteogenic sarcoma MONDO C1332342 MONDO:0003968 17 Apr 2020 Disease Asynergia Human Phenotype Ontology C0234355 HP:0010869 16 Feb 2016 Finding At risk of osteoporosis C1277579 14 Sep 2017 Disease ataluren response - Efficacy PharmGKB CN240590 1447954378 17 Feb 2017 Pharmacological response Ataxia NCBI curation C0004134 16 Feb 2016 Disease Ataxia - deafness - intellectual disability syndrome MONDO C0796045 MONDO:0008838 208850 17 Apr 2020 Disease Ataxia _ Audiologic/Otolaryngologic (child onset) CN232485 16 Feb 2016 Finding Ataxia _ Craniofacial (child onset) CN232486 16 Feb 2016 Finding Ataxia _ Musculoskeletal/Structural (child onset) CN232487 16 Feb 2016 Finding Ataxia _ Neurologic (adult onset) CN232457 16 Feb 2016 Finding Ataxia _ Neurologic (child onset) CN232488 16 Feb 2016 Finding Ataxia and polyneuropathy, adult-onset NCBI curation C1838916 500010 16 Feb 2016 Disease Ataxia and retinitis pigmentosa with isolated vitamin E deficiency NCBI curation C4016663 08 Mar 2019 Disease Ataxia neuropathy spectrum MONDO C3683791 MONDO:0016798 17 Apr 2020 Disease Ataxia Neuropathy Spectrum Disorders CN239223 02 Dec 2016 Disease Ataxia telangiectasi 30 Jun 2019 Disease Ataxia telangiectasia variant V1 16 Feb 2016 Disease Ataxia with dementia MONDO CN229274 MONDO:0020138 17 Apr 2020 Disease Ataxia with Dysarthria 25 Jul 2019 Finding Ataxia with fasciculations NCBI curation C1862440 108700 16 Feb 2016 Disease Ataxia with myoclonic epilepsy and presenile dementia NCBI curation C1859646 208700 16 Feb 2016 Disease Ataxia with Oculomotor Apraxia CN239198 02 Dec 2016 Disease Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus NCBI curation C4015436 616192 16 Feb 2016 Disease Ataxia, deafness and cardiomyopathy NCBI curation C1859645 208750 16 Feb 2016 Disease Ataxia, Friedreich-like, with isolated vitamin E deficiency NCBI curation C4016662 16 Feb 2016 Disease Ataxia, progressive seizures, mental deterioration, and hearing loss NCBI curation C4016634 16 Feb 2016 Disease Ataxia, sensory, autosomal dominant NCBI curation C1837015 608984 16 Feb 2016 Disease Ataxia, spastic, 1, autosomal dominant NCBI curation C1970107 108600 16 Feb 2016 Disease Ataxia, spastic, 2, autosomal recessive NCBI curation C1969796 611302 16 Feb 2016 Disease Ataxia, spastic, 3, autosomal recessive NCBI curation C1969645 611390 16 Feb 2016 Disease Ataxia, spastic, 4, autosomal recessive NCBI curation C3150925 613672 16 Feb 2016 Disease Ataxia-hypogonadism-choroidal dystrophy syndrome MONDO C1859093 MONDO:0008980 215470 17 Apr 2020 Disease Ataxia-microcephaly-cataract syndrome NCBI curation C0796056 208870 16 Feb 2016 Disease Ataxia-oculomotor apraxia 3 NCBI curation C3554690 615217 16 Feb 2016 Disease Ataxia-oculomotor apraxia 4 NCBI curation C4225397 616267 16 Feb 2016 Disease Ataxia-oculomotor apraxia type 1 Orphanet C1859598 ORPHA1168 208920 06 Apr 2018 Disease Ataxia-pancytopenia syndrome MONDO C1327919 MONDO:0008038 159550 17 Apr 2020 Disease Ataxia-photosensitivity-short stature syndrome MONDO C4751230 MONDO:0015248 17 Apr 2020 Disease Ataxia-telangiectasia syndrome NCBI curation C0004135 208900 05 Nov 2019 Disease Ataxia-telangiectasia variant NCBI curation C1876175 16 Feb 2016 Disease Ataxia-telangiectasia variant v2 NCBI curation 16 Feb 2016 Disease Ataxia-telangiectasia with generalized skin pigmentation and early death NCBI curation C1859615 208910 16 Feb 2016 Disease Ataxia-telangiectasia without immunodeficiency NCBI curation C4017102 16 Feb 2016 Disease Ataxia-telangiectasia-like disorder OMIM phenotypic series C1858391 PS604391 24 Dec 2016 Disease Ataxia-telangiectasia-like disorder OMIM phenotypic series C1858391 PS604391 24 Dec 2016 Disease Ataxia-telangiectasia-like disorder 1 NCBI curation C4012790 604391 24 Dec 2016 Disease Ataxia-telangiectasia-like disorder 2 NCBI curation C4014676 615919 16 Feb 2016 Disease Ataxic cerebral palsy C0394005 16 Feb 2016 Disease atazanavir and ritonavir response - Toxicity/ADR PharmGKB CN236470 982047507 18 May 2016 Pharmacological response Atazanavir response NCBI curation CN417141 28 Aug 2017 Pharmacological response atazanavir response - Other PharmGKB CN236483 1183863836 18 May 2016 Pharmacological response Atelectasis Human Phenotype Ontology C0004144 HP:0100750 16 Feb 2016 Finding Ateleiotic dwarfism NCBI curation C0342573 262400 16 Feb 2016 Disease Atelosteogenesis OMIM phenotypic series CN163181 PS108720 16 Feb 2016 Disease Atelosteogenesis type 1 NCBI curation C0265283 108720 16 Feb 2016 Disease Atelosteogenesis type II MONDO C1850554 MONDO:0009727 256050 22 Apr 2020 Disease Atelosteogenesis type III MONDO C3668942 MONDO:0007168 108721 22 Apr 2020 Disease Athabaskan severe combined immunodeficiency NCBI curation 16 Feb 2016 Disease Athelia NCBI curation 16 Feb 2016 Disease Atheroembolism of kidney MONDO MONDO:0002004 17 Apr 2020 Disease Atheroeruptive xanthoma Human Phenotype Ontology C4025807 HP:0001039 16 Feb 2016 Finding Atherogenic lipoprotein phenotype NCBI curation C1531719 108725 16 Feb 2016 Disease Atheromatosis Human Phenotype Ontology C4703375 HP:0002635 16 Feb 2016 Finding Atherosclerosis Human Phenotype Ontology C0004153 HP:0002621 16 Feb 2016 Finding atherosclerosis of extremities with intermittent claudication 14 Mar 2019 Finding Atherosclerosis, susceptibility to NCBI curation C1851473 16 Feb 2016 Disease Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome MONDO C1859596 MONDO:0008843 209010 17 Apr 2020 Disease Athetoid cerebral palsy Human Phenotype Ontology C0270742 HP:0011445 16 Feb 2016 Finding Athetosis Human Phenotype Ontology C0004158 HP:0002305 16 Feb 2016 Disease Athrombia, essential NCBI curation C1859595 209050 16 Feb 2016 Disease Athyreotic congenital hypothyroidism MONDO MONDO:0022900 17 Apr 2020 Disease Atkin-Flaitz syndrome MONDO C0796206 MONDO:0010323 300431 17 Apr 2020 Disease Atlantic cod allergy MONDO MONDO:0000789 17 Apr 2020 Disease Atlantic salmon allergy MONDO MONDO:0000790 17 Apr 2020 Disease Atlanto-Axial Fusion 16 Feb 2016 Disease Atlantoaxial abnormality Human Phenotype Ontology C4025617 HP:0003413 16 Feb 2016 Finding Atlantoaxial dislocation Human Phenotype Ontology C0263905 HP:0003414 16 Feb 2016 Finding Atlantoaxial instability Human Phenotype Ontology C0410653 HP:0003467 16 Feb 2016 Finding Atomoxetine response NCBI curation CN077956 16 Feb 2016 Pharmacological response Atonic seizures Human Phenotype Ontology C0270846 HP:0010819 16 Feb 2016 Finding Atonic-astatic syndrome of foerster NCBI curation C1859594 209100 16 Feb 2016 Disease Atopic asthma, susceptibility to NCBI curation 16 Feb 2016 Disease Atopic hypersensitivity NCBI curation 16 Feb 2016 Disease Atopic IgE-mediated allergic disorder MONDO C1706410 MONDO:0005202 17 Apr 2020 Disease Atopic keratoconjunctivitis MONDO C1274788 MONDO:0015599 17 Apr 2020 Disease atopic or contact dermatitis 14 Mar 2019 Finding atopy C0392707 19 Oct 2016 Finding Atopy, resistance to NCBI curation C4016232 16 Feb 2016 Disease Atopy, susceptibility to NCBI curation C1840254 16 Feb 2016 Disease Atorvastatin response NCBI curation CN077961 16 Feb 2016 Pharmacological response atorvastatin response - Efficacy PharmGKB CN236484 1183491446 18 May 2016 Pharmacological response atorvastatin response - Toxicity/ADR PharmGKB CN236485 981419532 18 May 2016 Pharmacological response ATP6AP1-related disorders 10 Jan 2020 Disease ATR-X-related syndrome NCBI curation CN257940 01 Nov 2018 Disease Atransferrinemia Human Phenotype Ontology C0521802 HP:0012239 209300 16 Feb 2016 Finding Atresia of external auditory canal and conductive deafness NCBI curation C3276095 108760 24 Aug 2016 Disease Atresia of small intestine 16 Feb 2016 Disease Atresia of the Eustachian tube Human Phenotype Ontology C1388953 HP:0040117 16 Feb 2016 Finding Atresia of the external auditory canal Human Phenotype Ontology C0266597 HP:0000413 16 Feb 2016 Finding Atresia of urethra (disease) MONDO C0345345 MONDO:0015195 17 Apr 2020 Disease Atretic aorta 22 Jun 2020 Finding Atretic gallbladder Human Phenotype Ontology C3277945 HP:0011984 16 Feb 2016 Finding Atretic lacrimal punctum Human Phenotype Ontology C1863201 HP:0007820 16 Feb 2016 Finding Atretic occipital cephalocele Human Phenotype Ontology C1836600 HP:0004470 16 Feb 2016 Finding Atretic vas deferens Human Phenotype Ontology C0266445 HP:0030997 04 Apr 2018 Finding Atrial appendage anomaly MONDO CN227702 MONDO:0019837 17 Apr 2020 Disease Atrial cardiomyopathy Human Phenotype Ontology C4021885 HP:0200127 16 Feb 2016 Finding Atrial defect and interatrial communication MONDO CN227854 MONDO:0020294 17 Apr 2020 Disease Atrial fibrillation Human Phenotype Ontology C0004238 HP:0005110 06 Jul 2018 Disease Atrial fibrillation 15 CN258965 12 Jun 2019 Disease Atrial fibrillation, association with CN231066 16 Feb 2016 Disease Atrial fibrillation, familial, 1 NCBI curation C1843687 608583 16 Feb 2016 Disease Atrial fibrillation, familial, 10 NCBI curation C3151464 614022 11 Nov 2018 Disease Atrial fibrillation, familial, 11 NCBI curation C3279693 614049 16 Feb 2016 Disease Atrial fibrillation, familial, 12 NCBI curation C3279695 614050 16 Feb 2016 Disease Atrial fibrillation, familial, 13 NCBI curation C3809311 615377 16 Feb 2016 Disease Atrial fibrillation, familial, 14 NCBI curation C3809312 615378 16 Feb 2016 Disease Atrial fibrillation, familial, 15 NCBI curation C4014269 615770 16 Feb 2016 Disease Atrial fibrillation, familial, 16 NCBI curation C4013699 16 Feb 2016 Disease Atrial fibrillation, familial, 17 NCBI curation C4013560 16 Feb 2016 Disease Atrial fibrillation, familial, 18 NCBI curation C4310636 617280 20 Jun 2017 Disease Atrial fibrillation, familial, 2 NCBI curation C1837812 608988 16 Feb 2016 Disease Atrial fibrillation, familial, 3 NCBI curation C1837014 607554 16 Feb 2016 Disease Atrial fibrillation, familial, 4 NCBI curation C1862394 611493 16 Feb 2016 Disease Atrial fibrillation, familial, 5 NCBI curation C1969099 611494 16 Feb 2016 Disease Atrial fibrillation, familial, 6 NCBI curation C2677294 612201 16 Feb 2016 Disease Atrial fibrillation, familial, 7 NCBI curation C2677106 612240 16 Feb 2016 Disease Atrial fibrillation, familial, 8 NCBI curation C2751607 613055 16 Feb 2016 Disease Atrial fibrillation, familial, 9 NCBI curation C3151431 613980 16 Feb 2016 Disease Atrial fibrillation, somatic NCBI curation C4015977 16 Feb 2016 Disease Atrial fibrillation,Brugada syndrome NCBI curation 16 Feb 2016 Disease Atrial Fibrillation;Pulmonary Embolism;Stroke;Venous Thrombosis PharmGKB 17 Feb 2017 Disease Atrial flutter Human Phenotype Ontology C0004239 HP:0004749 16 Feb 2016 Finding Atrial flutter (disease) MONDO MONDO:0005310 17 Apr 2020 Disease Atrial reentry tachycardia Human Phenotype Ontology C4023223 HP:0011699 16 Feb 2016 Finding Atrial septal defect Human Phenotype Ontology C0018817 HP:0001631 16 Feb 2016 Disease Atrial septal defect OMIM phenotypic series C0018817 PS108800 16 Feb 2016 Disease Atrial septal defect 1 NCBI curation C1862389 108800 16 Feb 2016 Disease Atrial septal defect 2 NCBI curation C1842778 607941 16 Feb 2016 Disease Atrial septal defect 3 NCBI curation C3279790 614089 16 Feb 2016 Disease Atrial septal defect 4 NCBI curation C1969657 611363 16 Feb 2016 Disease Atrial septal defect 5 NCBI curation C2748552 612794 16 Feb 2016 Disease Atrial septal defect 6 NCBI curation C2751315 613087 16 Feb 2016 Disease Atrial septal defect 7 with or without atrioventricular conduction defects NCBI curation C3276096 108900 16 Feb 2016 Disease Atrial septal defect 8 NCBI curation C3280790 614433 16 Feb 2016 Disease Atrial septal defect 9 NCBI curation C3280943 614475 16 Feb 2016 Disease Atrial septal defect coronary sinus 16 Feb 2016 Disease Atrial septal defect ostium primum 16 Feb 2016 Disease Atrial septal defect ostium secundum 16 Feb 2016 Disease Atrial septal defect sinus venosus 16 Feb 2016 Disease Atrial septal defect, primum type NCBI curation 16 Feb 2016 Disease Atrial septal defect, secundum, with various cardiac and noncardiac defects NCBI curation C1863648 603642 16 Feb 2016 Disease Atrial septal defect-atrioventricular conduction defects syndrome NCBI curation C3502353 16 Mar 2018 Disease Atrial septal dilatation Human Phenotype Ontology C4476553 HP:0011995 04 Apr 2018 Finding Atrial septal hypertrophy Human Phenotype Ontology C4531221 HP:0031296 04 Apr 2018 Finding Atrial situs ambiguous Human Phenotype Ontology C3164429 HP:0011539 16 Feb 2016 Finding Atrial situs inversus Human Phenotype Ontology C4023312 HP:0011538 16 Feb 2016 Finding Atrial standstill Human Phenotype Ontology C0541782 HP:0025478 04 Apr 2018 Disease Atrial standstill 1 NCBI curation C4551959 108770 24 Aug 2016 Disease Atrial standstill 1, digenic NCBI curation C4016652 11 Nov 2018 Disease Atrial standstill 2 NCBI curation C3810401 615745 16 Feb 2016 Disease Atrial tachyarrhythmia with short pr interval NCBI curation C1862387 108950 16 Feb 2016 Disease atrial tachycardia C0546959 18 Jan 2019 Finding Atrichia with papular lesions NCBI curation C1859592 209500 16 Feb 2016 Disease Atrioventricular block Human Phenotype Ontology C0004245 HP:0001678 16 Feb 2016 Disease Atrioventricular block, idiopathic second-degree NCBI curation 16 Feb 2016 Disease Atrioventricular canal defect with right ventricle aorta and pulmonary atresia 16 Feb 2016 Finding Atrioventricular dissociation Human Phenotype Ontology C0004331 HP:0011709 209600 16 Feb 2016 Finding Atrioventricular node disease MONDO MONDO:0005476 17 Apr 2020 Disease Atrioventricular septal defect OMIM phenotypic series C1389018 PS606215 606215 16 Feb 2016 Disease Atrioventricular septal defect Human Phenotype Ontology C1389018 HP:0006695 606215 16 Feb 2016 Disease Atrioventricular septal defect 1 NCBI curation C1853513 16 Feb 2016 Disease Atrioventricular septal defect 2 NCBI curation C1853508 606217 16 Feb 2016 Disease Atrioventricular septal defect 3 NCBI curation C3275750 600309 22 Dec 2019 Disease Atrioventricular septal defect 4 NCBI curation C3280781 614430 16 Feb 2016 Disease Atrioventricular septal defect 5 NCBI curation C3280939 614474 16 Feb 2016 Disease Atrioventricular septal defect with blepharophimosis and anal and radial defects NCBI curation C1838606 600123 16 Feb 2016 Disease Atrioventricular septal defect, partial, with heterotaxy syndrome NCBI curation C1853509 16 Feb 2016 Disease Atrioventricular septal defect, somatic NCBI curation C1833590 16 Feb 2016 Disease Atrioventricular valve anomaly MONDO CN227850 MONDO:0020288 17 Apr 2020 Disease Atrioventriculoseptal defect CN243975 11 May 2017 Finding Atrophia bulborum hereditaria C0266526 310600 16 Feb 2016 Disease Atrophia maculosa varioliformis cutis, familial NCBI curation C1832465 601341 16 Feb 2016 Disease Atrophic flaccid tympanic membrane MONDO C0155470 MONDO:0003647 17 Apr 2020 Disease Atrophic kidney 03 Mar 2020 Finding Atrophic lichen planus MONDO C0023647 MONDO:0016773 17 Apr 2020 Disease Atrophic muscular disease MONDO MONDO:0004714 17 Apr 2020 Disease Atrophic muscularis propria Human Phenotype Ontology C4476616 HP:0025149 02 Apr 2017 Finding Atrophic nonflaccid tympanic membrane MONDO C0155471 MONDO:0001547 17 Apr 2020 Disease Atrophic rhinitis MONDO C0035459 MONDO:0005659 17 Apr 2020 Disease Atrophic scars Human Phenotype Ontology C0162154 HP:0001075 16 Feb 2016 Finding Atrophic superior cerebellar peduncle Human Phenotype Ontology C4022535 HP:0030286 16 Feb 2016 Finding Atrophic thyroiditis MONDO C0238183 MONDO:0005624 17 Apr 2020 Disease Atrophic vulva MONDO C0156393 MONDO:0001932 17 Apr 2020 Disease Atrophic, patchy alopecia Human Phenotype Ontology C4025314 HP:0004529 16 Feb 2016 Finding Atrophoderma of Pierini and Pasini 16 Feb 2016 Disease Atrophoderma vermiculatum C0263429 209700 16 Feb 2016 Disease Atrophy NCBI curation C0333641 16 Feb 2016 Disease Atrophy of alveolar ridges Human Phenotype Ontology C1855642 HP:0006308 16 Feb 2016 Finding Atrophy of lacrimal gland MONDO C0339119 MONDO:0024624 17 Apr 2020 Disease Atrophy of masseter muscle Human Phenotype Ontology C3670700 HP:0045085 04 Apr 2018 Finding Atrophy of prostate MONDO C0156296 MONDO:0002264 17 Apr 2020 Disease atrophy of proximal, especially gluteal muscle 13 Feb 2020 Finding Atrophy of the brain and cerebellum CN239809 30 Dec 2016 Disease Atrophy of the dentate nucleus Human Phenotype Ontology C1857788 HP:0007047 16 Feb 2016 Finding Atrophy of the spinal cord Human Phenotype Ontology C1389102 HP:0006827 16 Feb 2016 Finding Atrophy of thyroid MONDO C2981141 MONDO:0006666 17 Apr 2020 Disease Atrophy/Degeneration affecting the brainstem Human Phenotype Ontology C4024900 HP:0007366 16 Feb 2016 Finding Atrophy/Degeneration affecting the central nervous system Human Phenotype Ontology C4024899 HP:0007367 16 Feb 2016 Finding Atrophy/Degeneration affecting the cerebrum Human Phenotype Ontology C4024898 HP:0007369 16 Feb 2016 Finding Atrophy/Degeneration involving the caudate nucleus Human Phenotype Ontology C4024895 HP:0007374 16 Feb 2016 Finding Atrophy/Degeneration involving the corticospinal tracts Human Phenotype Ontology C4024897 HP:0007372 16 Feb 2016 Finding Atrophy/Degeneration involving the spinal cord Human Phenotype Ontology C1843858 HP:0007344 16 Feb 2016 Finding ATRX-Related Disorder 13 Oct 2017 Disease ATTACHED CELL ANTIGEN 28.3.7 OMIM CN263296 108990 108990 26 Feb 2020 Disease Attached earlobe Human Phenotype Ontology C4021375 HP:0009907 16 Feb 2016 Finding Attention deficit hyperactivity disorder Human Phenotype Ontology C1263846 HP:0007018 143465 16 Feb 2016 Disease Attention deficit-hyperactivity disorder 1 NCBI curation C1837153 608903 16 Feb 2016 Disease Attention deficit-hyperactivity disorder 2 NCBI curation C1837152 608904 16 Feb 2016 Disease Attention deficit-hyperactivity disorder 3 NCBI curation C1837151 608905 16 Feb 2016 Disease Attention deficit-hyperactivity disorder 4 NCBI curation C1837150 608906 16 Feb 2016 Disease Attention deficit-hyperactivity disorder 5 NCBI curation C2676741 612311 16 Feb 2016 Disease Attention deficit-hyperactivity disorder 6 NCBI curation C2676740 612312 16 Feb 2016 Disease Attention deficit-hyperactivity disorder 7 NCBI curation C2751802 613003 16 Feb 2016 Disease Attention deficit-hyperactivity disorder, susceptibility to NCBI curation 16 Feb 2016 Disease Attention impairment 02 Feb 2019 Finding Attenuated Chédiak-Higashi syndrome MONDO C4304022 MONDO:0018133 17 Apr 2020 Disease Attenuated familial adenomatous polyposis MONDO C2674616 MONDO:0016362 17 Apr 2020 Disease Attenuation of retinal blood vessels Human Phenotype Ontology C3278975 HP:0007843 16 Feb 2016 Finding ATTRV122I amyloidosis MONDO C4275067 MONDO:0019441 17 Apr 2020 Disease Atypical absence seizures Human Phenotype Ontology C0595948 HP:0007270 16 Feb 2016 Finding Atypical autism MONDO C0338986 MONDO:0016052 17 Apr 2020 Disease Atypical breast papilloma MONDO C1332346 MONDO:0004507 17 Apr 2020 Disease Atypical carcinoid tumor MONDO C1266032 MONDO:0006095 17 Apr 2020 Disease atypical cerebral palsy NCBI curation CN479605 11 Aug 2017 Disease Atypical childhood epilepsy with centrotemporal spikes MONDO MONDO:0100020 17 Apr 2020 Disease Atypical choroid plexus papilloma MONDO C1266176 MONDO:0002684 17 Apr 2020 Disease Atypical chronic myeloid leukemia NCBI curation 25 Nov 2018 Disease Atypical chronic myeloid leukemia, BCR-ABL1 negative MONDO MONDO:0004653 17 Apr 2020 Disease Atypical dentin dysplasia due to SMOC2 deficiency MONDO C5190802 MONDO:0017819 17 Apr 2020 Disease Atypical depressive disorder MONDO C0154437 MONDO:0001485 17 Apr 2020 Disease Atypical elliptocytosis Human Phenotype Ontology C1857010 HP:0004822 04 Apr 2018 Disease Atypical endometrial hyperplasia MONDO C0349579 MONDO:0006096 17 Apr 2020 Disease Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome MONDO CN263007 MONDO:0034110 17 Apr 2020 Disease Atypical follicular adenoma MONDO C1266046 MONDO:0004524 17 Apr 2020 Disease Atypical Gaucher Disease CN239218 02 Dec 2016 Disease Atypical hemolytic uremic syndrome NCBI curation C2931788 16 Feb 2016 Disease Atypical hemolytic-uremic syndrome 1 NCBI curation C2749604 235400 16 Feb 2016 Disease Atypical hemolytic-uremic syndrome 2 NCBI curation C2752040 612922 16 Feb 2016 Disease Atypical hemolytic-uremic syndrome 3 NCBI curation C2752039 612923 16 Feb 2016 Disease Atypical hemolytic-uremic syndrome 4 NCBI curation C2752038 612924 16 Feb 2016 Disease Atypical hemolytic-uremic syndrome 5 NCBI curation C2752037 612925 16 Feb 2016 Disease Atypical hemolytic-uremic syndrome 6 NCBI curation C2752036 612926 16 Feb 2016 Disease Atypical hemolytic-uremic syndrome with H factor anomaly MONDO MONDO:0019738 17 Apr 2020 Disease Atypical hyperphenylalaninemia Human Phenotype Ontology C4025273 HP:0004922 16 Feb 2016 Finding Atypical hypotonia-cystinuria syndrome MONDO C4755274 MONDO:0016539 17 Apr 2020 Disease Atypical juvenile parkinsonism MONDO C4510873 MONDO:0018321 17 Apr 2020 Disease Atypical lichen myxedematosus MONDO C4510874 MONDO:0019447 17 Apr 2020 Disease Atypical lipomatous tumor MONDO C1266129 MONDO:0006097 17 Apr 2020 Disease Atypical lobular breast hyperplasia MONDO C1368920 MONDO:0006098 17 Apr 2020 Disease Atypical lymphoproliferative disorder MONDO C0272217 MONDO:0044921 17 Apr 2020 Disease Atypical Meigs syndrome MONDO C5190605 MONDO:0017801 17 Apr 2020 Disease Atypical mycobacteriosis, familial, X-linked 2 NCBI curation C1970859 300645 16 Feb 2016 Disease Atypical neurofibroma MONDO C1510961 MONDO:0003306 17 Apr 2020 Disease Atypical nevi in non-sun exposed areas Human Phenotype Ontology C4021837 HP:0001074 16 Feb 2016 Finding Atypical nevus Human Phenotype Ontology C0205748 HP:0001062 02 Apr 2017 Finding Atypical Norrie disease due to monosomy Xp11.3 MONDO C4518083 MONDO:0016850 17 Apr 2020 Disease Atypical or prolonged hepatitis Human Phenotype Ontology C1848456 HP:0200122 16 Feb 2016 Finding Atypical pantothenate kinase-associated neurodegeneration MONDO CN201110 MONDO:0016305 17 Apr 2020 Disease Atypical parkinson disease NCBI curation 16 Feb 2016 Disease Atypical polypoid adenomyoma MONDO C1300347 MONDO:0003236 17 Apr 2020 Disease Atypical pulmonary carcinoid tumor Human Phenotype Ontology C4072942 HP:0030446 16 Feb 2016 Finding Atypical Rett syndrome NCBI curation C2748910 16 Feb 2016 Disease Atypical scarring of skin Human Phenotype Ontology C4021786 HP:0000987 16 Feb 2016 Finding Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency 20 Mar 2018 Disease atypical spastic diplegia 05 Sep 2019 Finding atypical spastic triplagia 05 Sep 2019 Finding Atypical teratoid/rhabdoid tumor NCBI curation C1266184 15 Mar 2018 Disease AU-KLINE SYNDROME OMIM C4225274 616580 616580 16 Feb 2016 Disease AUBERGER BLOOD GROUP POLYMORPHISM Au(a)/Au(b) 16 Feb 2016 Blood group Auberger system NCBI curation 16 Feb 2016 Disease Audiogenic seizures MONDO C0751791 MONDO:0015644 17 Apr 2020 Disease Audiologic phenotype and hearing loss CN230735 16 Feb 2016 Finding Audiologic/Otolaryngologic (adult onset) CN235928 08 Apr 2016 Finding Audiologic/Otolaryngologic (child onset) CN232533 16 Feb 2016 Finding Auditory acuity CN236702 21 May 2016 Finding Auditory agnosia MONDO C0234501 MONDO:0000667 17 Apr 2020 Disease Auditory auras Human Phenotype Ontology C1838063 HP:0011158 16 Feb 2016 Finding Auditory hallucinations Human Phenotype Ontology C0233762 HP:0008765 16 Feb 2016 Finding Auditory neuropathy OMIM phenotypic series C1852271 PS609129 16 Feb 2016 Disease auditory neuropathy with muscle weak of lower limbs CN225032 16 Feb 2016 Finding Auditory neuropathy, autosomal dominant, 1 NCBI curation C1836743 609129 16 Feb 2016 Disease Auditory neuropathy, autosomal recessive, 1 NCBI curation CN043167 16 Feb 2016 Disease Auditory neuropathy, nonsyndromic recessive NCBI curation 16 Feb 2016 Disease Auditory neuropathy-optic atrophy syndrome MONDO C4521678 MONDO:0060582 617717 17 Apr 2020 Disease Auditory perceptual disorder 16 Feb 2016 Disease auditory processing disorder 05 Sep 2019 Finding Auditory system cancer MONDO MONDO:0004532 17 Apr 2020 Disease Auditory system disease MONDO MONDO:0002409 17 Apr 2020 Disease Aural atresia, congenital NCBI curation C1842937 607842 16 Feb 2016 Disease Aural atresia, multiple congenital anomalies, and mental retardation NCBI curation C1859591 209770 16 Feb 2016 Disease Auralcephalosyndactyly C1862380 109050 16 Feb 2016 Disease Auras Human Phenotype Ontology C0544645 HP:0011157 16 Feb 2016 Finding Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome MONDO CN205748 MONDO:0019178 17 Apr 2020 Disease Auricular pit Human Phenotype Ontology C4022672 HP:0030025 16 Feb 2016 Finding Auricular tag Human Phenotype Ontology C4022674 HP:0030021 16 Feb 2016 Finding Auriculocondylar syndrome OMIM phenotypic series C1865295 PS602483 16 Feb 2016 Disease Auriculocondylar syndrome 1 NCBI curation C4551996 602483 16 Feb 2016 Disease Auriculocondylar syndrome 2 NCBI curation C3553404 614669 16 Feb 2016 Disease Auriculocondylar syndrome 3 NCBI curation C3810332 615706 16 Feb 2016 Disease Auriculoosteodysplasia C1862381 109000 16 Feb 2016 Disease Ausems Wittebol-Post Hennekam syndrome 16 Feb 2016 Disease Autism CN281458 27 Apr 2018 Finding Autism 1 NCBI curation C1968924 16 Feb 2016 Disease Autism 10 NCBI curation C1970242 611016 16 Feb 2016 Disease Autism 11 NCBI curation C1970512 610836 16 Feb 2016 Disease Autism 12 NCBI curation C1970511 610838 16 Feb 2016 Disease Autism 13 NCBI curation C1970473 610908 16 Feb 2016 Disease Autism 14 NCBI curation 16 Feb 2016 Disease Autism 15 NCBI curation C2677504 612100 16 Feb 2016 Disease Autism 16 NCBI curation C3150677 613410 16 Feb 2016 Disease Autism 17 NCBI curation C3150693 613436 16 Feb 2016 Disease Autism 3 NCBI curation C1842632 608049 16 Feb 2016 Disease Autism 4 NCBI curation 16 Feb 2016 Disease Autism 5 NCBI curation C1853755 606053 16 Feb 2016 Disease Autism 6 NCBI curation C1836271 609378 16 Feb 2016 Disease Autism 7 NCBI curation C1970807 610676 16 Feb 2016 Disease Autism 8 NCBI curation C1969710 607373 16 Feb 2016 Disease Autism 9 NCBI curation C1970243 611015 16 Feb 2016 Disease Autism spectrum 13 Apr 2018 Finding Autism spectrum disorder MONDO C1510586 MONDO:0005258 06 Jul 2018 Disease Autism Spectrum Disorder with Intellectual Disability 03 Aug 2017 Disease Autism Spectrum Disorder;schizoaffective disorder;Schizophrenia PharmGKB 17 Feb 2017 Disease Autism specturm disorder CN244028 01 Jun 2017 Finding Autism susceptibility 15 CN260134 19 Jun 2019 Disease Autism susceptibility 16 CN260135 19 Jun 2019 Disease Autism susceptibility 17 CN260136 19 Jun 2019 Disease Autism susceptibility, X-linked 1 CN260137 19 Jun 2019 Disease Autism susceptibility, X-linked 2 CN260138 19 Jun 2019 Disease Autism susceptibility, X-linked 3 CN260139 19 Jun 2019 Disease Autism with high cognitive abilities Human Phenotype Ontology C4025832 HP:0000753 16 Feb 2016 Finding Autism with port-wine stain 16 Feb 2016 Disease Autism, SETD2 related CN240375 31 Jan 2017 Disease Autism, severe NCBI curation C1839707 16 Feb 2016 Disease Autism, susceptibility to, 14a NCBI curation C3552491 16 Feb 2016 Disease Autism, susceptibility to, 14b NCBI curation C3553408 16 Feb 2016 Disease Autism, susceptibility to, 18 NCBI curation C3554373 615032 16 Feb 2016 Disease Autism, susceptibility to, 19 NCBI curation C3554495 615091 16 Feb 2016 Disease AUTISM, SUSCEPTIBILITY TO, 20 OMIM CN280925 618830 618830 15 May 2020 Disease Autism, susceptibility to, X-linked 1 NCBI curation C1845540 300425 16 Feb 2016 Disease Autism, susceptibility to, X-linked 2 NCBI curation C1845539 300495 16 Feb 2016 Disease Autism, susceptibility to, X-linked 3 NCBI curation C1845336 300496 16 Feb 2016 Disease Autism, susceptibility to, X-linked 4 NCBI curation C0795888 300830 24 Aug 2016 Disease Autism, susceptibility to, X-linked 5 NCBI curation C3275438 300847 16 Feb 2016 Disease Autism, susceptibility to, X-linked 6 NCBI curation C3550875 300872 24 Aug 2016 Disease Autism-facial port-wine stain syndrome MONDO CN199278 MONDO:0015311 17 Apr 2020 Disease Autistic behavior Human Phenotype Ontology C0856975 HP:0000729 16 Feb 2016 Finding Autistic disorder of childhood onset NCBI curation C0004352 209850 16 Feb 2016 Disease autistic features C1846135 11 Jan 2017 Finding Autistic spectrum disorder with isolated skills C1298684 16 Feb 2016 Disease Autistic traits CN236431 13 May 2016 Finding auto and hetero-aggressive behavior 15 Aug 2019 Finding Autoamputation Human Phenotype Ontology C1833222 HP:0001218 16 Feb 2016 Finding Autoamputation of digits Human Phenotype Ontology C1852289 HP:0007460 16 Feb 2016 Finding Autoamputation of foot Human Phenotype Ontology C4025740 HP:0001868 02 Apr 2017 Finding Autoerythrocyte sensitivity NCBI curation 16 Feb 2016 Disease Autoerythrocyte sensitization syndrome MONDO C0301928 MONDO:0017943 17 Apr 2020 Disease Autoimmune antibody positivity Human Phenotype Ontology C4022660 HP:0030057 16 Feb 2016 Finding Autoimmune atherosclerosis MONDO MONDO:0030702 17 Apr 2020 Disease Autoimmune bullous skin disease MONDO CN206006 MONDO:0019337 17 Apr 2020 Disease Autoimmune cardiomyopathy MONDO MONDO:0030701 17 Apr 2020 Disease Autoimmune disease C0004364 109100 16 Feb 2016 Disease Autoimmune disease 1 NCBI curation C1842979 607836 16 Feb 2016 Disease Autoimmune disease 2 NCBI curation C1842113 608391 16 Feb 2016 Disease Autoimmune disease 3 NCBI curation C1842112 608392 16 Feb 2016 Disease Autoimmune disease 4 NCBI curation C1836258 609400 16 Feb 2016 Disease Autoimmune disease 5 NCBI curation 16 Feb 2016 Disease Autoimmune disease 6 NCBI curation C3150797 613551 16 Feb 2016 Disease Autoimmune disease of blood MONDO MONDO:0000602 17 Apr 2020 Disease Autoimmune disease of cardiovascular system MONDO MONDO:0000603 17 Apr 2020 Disease Autoimmune disease of central nervous system MONDO MONDO:0000568 17 Apr 2020 Disease Autoimmune disease of ear, nose and throat MONDO MONDO:0000587 17 Apr 2020 Disease Autoimmune disease of endocrine system MONDO C0342552 MONDO:0000569 17 Apr 2020 Disease Autoimmune disease of exocrine system MONDO MONDO:0000586 17 Apr 2020 Disease Autoimmune disease of gastrointestinal tract MONDO MONDO:0000588 17 Apr 2020 Disease Autoimmune disease of musculoskeletal system MONDO MONDO:0000589 17 Apr 2020 Disease Autoimmune disease of peripheral nervous system MONDO MONDO:0000590 17 Apr 2020 Disease Autoimmune disease of the nervous system MONDO MONDO:0002977 17 Apr 2020 Disease Autoimmune disease of urogenital tract MONDO MONDO:0000601 17 Apr 2020 Disease Autoimmune disease with skin involvement MONDO CN203818 MONDO:0017841 17 Apr 2020 Disease Autoimmune disease, multisystem, infantile-onset OMIM phenotypic series CN238808 PS615952 23 Oct 2016 Disease Autoimmune disease, multisystem, infantile-onset, 1 NCBI curation C4014795 615952 24 Aug 2016 Disease Autoimmune disease, multisystem, infantile-onset, 2 NCBI curation C4310768 617006 17 Jul 2016 Disease Autoimmune disease, syndromic multisystem NCBI curation C3150649 613385 16 Feb 2016 Disease Autoimmune encephalitis MONDO MONDO:0020640 17 Apr 2020 Disease Autoimmune encephalopathy with parasomnia and obstructive sleep apnea MONDO C4707562 MONDO:0018489 17 Apr 2020 Disease Autoimmune enteropathy C0341305 16 Feb 2016 Disease Autoimmune enteropathy type 2 MONDO MONDO:0015173 17 Apr 2020 Disease Autoimmune enteropathy type 3 MONDO MONDO:0015174 17 Apr 2020 Disease Autoimmune gastritis MONDO C3887639 MONDO:0031014 17 Apr 2020 Disease Autoimmune glomerulonephritis MONDO MONDO:0030700 17 Apr 2020 Disease Autoimmune hemolytic anemia Human Phenotype Ontology C0002880 HP:0001890 205700 16 Feb 2016 Disease Autoimmune hemolytic anemia, cold type MONDO C0175816 MONDO:0016450 17 Apr 2020 Disease Autoimmune hemolytic anemia, warm type MONDO C0272118 MONDO:0019532 17 Apr 2020 Disease Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome MONDO CN237691 MONDO:0018636 17 Apr 2020 Disease Autoimmune hepatitis C4721555 16 Feb 2016 Disease Autoimmune hepatitis type 1 MONDO C4303164 MONDO:0005543 17 Apr 2020 Disease Autoimmune hepatitis type 2 MONDO C4303163 MONDO:0021176 17 Apr 2020 Disease Autoimmune hepatitis type 3 MONDO C4303162 MONDO:0021177 17 Apr 2020 Disease Autoimmune hypoparathyroidism Human Phenotype Ontology C0271865 HP:0011771 16 Feb 2016 Finding Autoimmune Inner Ear disease 16 Feb 2016 Disease Autoimmune interstitial lung, joint, and kidney disease NCBI curation C4225334 616414 16 Feb 2016 Disease Autoimmune lymphoproliferative syndrome C1328840 601859 16 Feb 2016 Disease Autoimmune lymphoproliferative syndrome 3 C1519711 10 Sep 2019 Disease Autoimmune lymphoproliferative syndrome 5 CN262233 10 Sep 2019 Disease Autoimmune lymphoproliferative syndrome type 1, autosomal recessive NCBI curation C1866121 16 Feb 2016 Disease Autoimmune lymphoproliferative syndrome type 2 NCBI curation C1519709 24 Dec 2017 Disease Autoimmune lymphoproliferative syndrome type 2B MONDO C1846545 MONDO:0011804 607271 22 Apr 2020 Disease Autoimmune lymphoproliferative syndrome, type 1a NCBI curation C1866119 16 Feb 2016 Disease Autoimmune lymphoproliferative syndrome, type 1b NCBI curation C1866120 16 Feb 2016 Disease Autoimmune lymphoproliferative syndrome, type 2A NCBI curation C1858968 603909 24 Dec 2017 Disease Autoimmune lymphoproliferative syndrome, type III NCBI curation C3809928 615559 24 Aug 2016 Disease Autoimmune lymphoproliferatiVe syndrome, type V NCBI curation C4015214 616100 11 Nov 2018 Disease Autoimmune myocarditis 16 Feb 2016 Disease Autoimmune neuropathy MONDO MONDO:0000774 17 Apr 2020 Disease Autoimmune neutropenia Human Phenotype Ontology C0340971 HP:0001904 16 Feb 2016 Finding Autoimmune oophoritis C0878654 16 Feb 2016 Disease Autoimmune optic neuritis MONDO MONDO:0031013 17 Apr 2020 Disease Autoimmune pancreatitis MONDO C2609129 MONDO:0015175 17 Apr 2020 Disease Autoimmune pancreatitis type 1 MONDO C4302243 MONDO:0017227 17 Apr 2020 Disease Autoimmune pancreatitis type 2 MONDO CN202713 MONDO:0017228 17 Apr 2020 Disease Autoimmune peripheral neuropathy 16 Feb 2016 Disease Autoimmune polyendocrinopathy MONDO C0085409 MONDO:0017278 17 Apr 2020 Disease Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia CN239951 20 Jan 2017 Disease Autoimmune polyendocrinopathy type 3 MONDO C3266027 MONDO:0016422 17 Apr 2020 Disease Autoimmune polyendocrinopathy type 4 MONDO C3266026 MONDO:0016423 17 Apr 2020 Disease Autoimmune polyglandular syndrome type 1, autosomal dominant NCBI curation C1855869 16 Feb 2016 Disease Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia NCBI curation C2749602 16 Feb 2016 Disease Autoimmune primary ovarian failure MONDO C0342508 MONDO:0044338 17 Apr 2020 Disease Autoimmune progesterone dermatitis C1260879 16 Feb 2016 Disease Autoimmune pulmonary alveolar proteinosis MONDO C1970472 MONDO:0012579 610910 22 Apr 2020 Disease Autoimmune retinopathy MONDO C3203657 MONDO:0100014 17 Apr 2020 Disease Autoimmune thrombocytopenia Human Phenotype Ontology C0398650 HP:0001973 188030 16 Feb 2016 Disease Autoimmune thyroid disease MONDO MONDO:0005623 17 Apr 2020 Disease Autoimmune thyroid disease 1 NCBI curation C1842446 608173 16 Feb 2016 Disease Autoimmune thyroid disease 2 NCBI curation C1842445 608174 16 Feb 2016 Disease Autoimmune thyroid disease 3 NCBI curation C1842444 608175 16 Feb 2016 Disease Autoimmune thyroid disease 5 NCBI curation C2748621 16 Feb 2016 Disease Autoimmune thyroid disease, susceptibility to MONDO MONDO:0000162 17 Apr 2020 Disease Autoimmune thyroid disease, susceptibility to, 4 NCBI curation C1842443 608176 30 Jul 2017 Disease Autoimmune thyroiditis, celiac disease 14 Oct 2017 Finding Autoimmune urticaria MONDO C1304191 MONDO:0025513 17 Apr 2020 Disease Autoimmune uveitis MONDO MONDO:0031012 17 Apr 2020 Disease Autoimmune vasculitis MONDO C1328843 MONDO:0030703 17 Apr 2020 Disease Autoimmune/inflammatory optic neuropathy MONDO CN258706 MONDO:0044685 17 Apr 2020 Disease Autoimmunity Human Phenotype Ontology C0004368 HP:0002960 16 Feb 2016 Finding Autoinflammation with arthritis and dyskeratosis NCBI curation C4479278 617388 20 Jun 2017 Disease AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY OMIM CN280858 618852 618852 30 Apr 2020 Disease Autoinflammation with infantile enterocolitis NCBI curation C4015067 616050 16 Feb 2016 Disease Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated NCBI curation C3553961 614878 16 Feb 2016 Disease Autoinflammation, panniculitis, and dermatosis syndrome NCBI curation C4310614 617099 20 Jun 2017 Disease Autoinflammatory Autoimmune CN280723 22 Apr 2020 Disease Autoinflammatory syndrome C3890737 29 Mar 2020 Disease Autoinflammatory syndrome with immune deficiency MONDO CN203042 MONDO:0017369 17 Apr 2020 Disease Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis MONDO CN237438 MONDO:0017992 17 Apr 2020 Disease Autoinflammatory syndrome with skin involvement MONDO CN203043 MONDO:0017370 17 Apr 2020 Disease Autoinflammatory syndrome, familial, Behcet-like NCBI curation C4225218 616744 16 Feb 2016 Disease Automatic atrial tachycardia Human Phenotype Ontology C0039234 HP:0011700 16 Feb 2016 Finding Autonomic bladder dysfunction Human Phenotype Ontology C4025212 HP:0005341 16 Feb 2016 Finding autonomic dysreflexia 05 Sep 2019 Disease Autonomic dysregulation Human Phenotype Ontology CN209515 HP:0002271 16 Feb 2016 Finding Autonomic erectile dysfunction Human Phenotype Ontology C1868524 HP:0008652 16 Feb 2016 Finding Autonomic facial cephalgia MONDO C0238902 MONDO:0022535 17 Apr 2020 Disease Autonomic nervous system disease MONDO MONDO:0001292 17 Apr 2020 Disease Autonomic nervous system dysfunction NCBI curation C4016022 16 Feb 2016 Disease Autonomic nervous system neoplasm MONDO C1332356 MONDO:0002366 17 Apr 2020 Disease Autonomic neuropathy MONDO C0259749 MONDO:0001300 17 Apr 2020 Disease Autophagic vacuoles Human Phenotype Ontology C0544966 HP:0003736 16 Feb 2016 Finding autopsy confirmed hypertrophic cardiomyopathy in sudden death CN232064 16 Feb 2016 Finding Autosomal anomaly MONDO CN227743 MONDO:0020049 17 Apr 2020 Disease Autosomal chromosomal disorder NCBI curation C0969687 16 Feb 2016 Disease Autosomal dominant cerebellar ataxia type I MONDO CN206744 MONDO:0019792 17 Apr 2020 Disease Autosomal dominant cerebellar ataxia type III MONDO CN206746 MONDO:0019793 17 Apr 2020 Disease Autosomal dominant cerebellar ataxia type IV MONDO CN229225 MONDO:0019794 17 Apr 2020 Disease Autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation MONDO CN258505 MONDO:0044625 17 Apr 2020 Disease Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation MONDO C4707173 MONDO:0017940 17 Apr 2020 Disease Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation MONDO CN237576 MONDO:0018567 17 Apr 2020 Disease Autosomal dominant Charcot-Marie-Tooth disease type 2M MONDO C4304672 MONDO:0016431 17 Apr 2020 Disease Autosomal dominant coarctation of aorta MONDO C2930803 MONDO:0015445 17 Apr 2020 Disease Autosomal dominant complex spastic paraplegia MONDO CN226593 MONDO:0015087 17 Apr 2020 Disease Autosomal dominant complex spastic paraplegia type 9B MONDO CN237702 MONDO:0018644 17 Apr 2020 Disease Autosomal dominant diffuse mutilating palmoplantar keratoderma MONDO CN229100 MONDO:0017670 17 Apr 2020 Disease Autosomal dominant disease MONDO C0265385 MONDO:0000426 17 Apr 2020 Disease Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature MONDO CN206999 MONDO:0020095 17 Apr 2020 Disease Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature MONDO CN203566 MONDO:0017679 17 Apr 2020 Disease Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature MONDO CN206998 MONDO:0020094 17 Apr 2020 Disease Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO CN776822 MONDO:0018773 17 Apr 2020 Disease Autosomal dominant distal hereditary motor neuropathy Orphanet CN263134 ORPHA140465 24 Jul 2019 Disease Autosomal dominant distal myopathy MONDO CN229018 MONDO:0016108 17 Apr 2020 Disease Autosomal dominant distal renal tubular acidosis MONDO C0259810 MONDO:0008368 179800 22 Apr 2020 Disease Autosomal dominant epidermolytic ichthyosis MONDO MONDO:0020702 17 Apr 2020 Disease Autosomal dominant epilepsy CN240682 24 Feb 2017 Disease Autosomal dominant familial acute myeloid leukemia 13 Oct 2017 Disease Autosomal dominant hereditary axonal motor and sensory neuropathy MONDO CN228927 MONDO:0015360 17 Apr 2020 Disease Autosomal dominant hereditary demyelinating motor and sensory neuropathy MONDO CN228926 MONDO:0015359 17 Apr 2020 Disease Autosomal dominant hereditary sensory and autonomic neuropathy MONDO CN228932 MONDO:0015365 17 Apr 2020 Disease Autosomal dominant hyperinsulinism due to Kir6.2 deficiency MONDO C4274081 MONDO:0017185 17 Apr 2020 Disease Autosomal dominant hyperinsulinism due to SUR1 deficiency MONDO C4274080 MONDO:0017184 17 Apr 2020 Disease Autosomal dominant hypocalcemia Orphanet C4048195 ORPHA428 16 Feb 2016 Disease Autosomal dominant hypohidrotic ectodermal dysplasia MONDO C0265331 MONDO:0015884 27 May 2020 Disease Autosomal dominant hypophosphatemic rickets NCBI curation C0342642 193100 16 Feb 2016 Disease Autosomal dominant inheritance C0443147 16 Feb 2016 Disease Autosomal dominant intermediate Charcot-Marie-Tooth disease NCBI curation CN252644 26 Jul 2018 Disease Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain MONDO C4755257 MONDO:0017937 17 Apr 2020 Disease Autosomal dominant isolated diffuse palmoplantar keratoderma MONDO CN229268 MONDO:0020093 17 Apr 2020 Disease Autosomal dominant isolated somatotropin deficiency NCBI curation C0271567 173100 16 Feb 2016 Disease Autosomal dominant KAT6B-related disorders 18 Oct 2019 Disease Autosomal dominant KCNQ1-related disease 21 Dec 2019 Disease Autosomal dominant lamellar ichthyosis C0432304 146750 16 Feb 2016 Disease Autosomal dominant macrothrombocytopenia MONDO C4304021 MONDO:0015372 17 Apr 2020 Disease Autosomal dominant macrothrombocytopenia TUBB1-related MONDO C2751259 MONDO:0013141 613112 22 Apr 2020 Disease Autosomal dominant medullary cystic kidney disease with hyperuricemia MONDO C1859040 MONDO:0019511 603860 17 Apr 2020 Disease Autosomal dominant medullary cystic kidney disease with or without hyperuricemia MONDO C4511620 MONDO:0008264 17 Apr 2020 Disease Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency MONDO CN203955 MONDO:0017899 17 Apr 2020 Disease Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency MONDO CN203963 MONDO:0017903 17 Apr 2020 Disease Autosomal dominant MYH7-related disorder 21 Dec 2019 Disease Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome MONDO CN237631 MONDO:0018601 17 Apr 2020 Disease Autosomal dominant nocturnal frontal lobe epilepsy NCBI curation C3696898 16 Feb 2016 Disease Autosomal dominant non-nuclear cataract MONDO MONDO:0022673 17 Apr 2020 Disease Autosomal dominant non-syndromic intellectual disability Orphanet CN239584 ORPHA178469 26 Dec 2016 Disease Autosomal dominant non-syndromic sensorineural deafness type DFNA Orphanet CN043649 ORPHA90635 22 Jan 2017 Disease Autosomal dominant nonsyndromic deafness 17 MONDO C1863659 MONDO:0011350 603622 17 Apr 2020 Disease Autosomal dominant nonsyndromic deafness 2A MONDO C2677637 MONDO:0010817 600101 17 Apr 2020 Disease Autosomal dominant nonsyndromic deafness 53 MONDO C1864957 MONDO:0012380 609965 17 Apr 2020 Disease Autosomal dominant nonsyndromic deafness 6 MONDO C1833021 MONDO:0010963 600965 17 Apr 2020 Disease Autosomal dominant oculocutaneous albinism MONDO MONDO:0040654 17 Apr 2020 Disease Autosomal dominant omodysplasia MONDO C2750355 MONDO:0008123 164745 22 Apr 2020 Disease Autosomal dominant optic atrophy and peripheral neuropathy MONDO CN201872 MONDO:0016646 17 Apr 2020 Disease Autosomal dominant optic atrophy plus syndrome Orphanet C3276549 ORPHA1215 125250 26 Dec 2016 Disease Autosomal dominant osteopetrosis 1 MONDO C1843330 MONDO:0011877 607634 22 Apr 2020 Disease Autosomal dominant osteopetrosis 2 MONDO C3179239 MONDO:0008156 166600 22 Apr 2020 Disease Autosomal dominant partial epilepsy with auditory features 16 Feb 2016 Disease Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis MONDO C1838327 MONDO:0010856 600273 17 Apr 2020 Disease Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome MONDO CN776826 MONDO:0018777 17 Apr 2020 Disease Autosomal dominant primary microcephaly MONDO C0220693 MONDO:0007988 156580 17 Apr 2020 Disease Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 NCBI curation C1834846 157640 16 Feb 2016 Disease Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 NCBI curation C1836460 609283 16 Feb 2016 Disease Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 NCBI curation C1836439 609286 16 Feb 2016 Disease Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 NCBI curation C1864668 610131 16 Feb 2016 Disease Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 NCBI curation C2751319 613077 16 Feb 2016 Disease Autosomal dominant proximal renal tubular acidosis MONDO CN203801 MONDO:0017829 17 Apr 2020 Disease Autosomal dominant proximal spinal muscular atrophy MONDO CN229044 MONDO:0016224 17 Apr 2020 Disease Autosomal dominant pseudohypoaldosteronism type 1 MONDO C1449842 MONDO:0008329 177735 22 Apr 2020 Disease Autosomal dominant pure spastic paraplegia MONDO CN226594 MONDO:0015088 17 Apr 2020 Disease Autosomal dominant retinitis pigmentosa NCBI curation C0339525 13 Oct 2017 Disease Autosomal dominant Robinow syndrome MONDO CN260902 MONDO:0008389 17 Apr 2020 Disease Autosomal dominant SCN1A-related disorder 21 Dec 2019 Disease Autosomal dominant secondary polycythemia MONDO C5190864 MONDO:0016599 17 Apr 2020 Disease Autosomal dominant spastic ataxia MONDO CN229111 MONDO:0017846 17 Apr 2020 Disease Autosomal dominant spastic paraplegia type 9 MONDO MONDO:0015091 17 Apr 2020 Disease Autosomal dominant striatal neurodegeneration Orphanet C4511004 ORPHA228169 01 Jul 2017 Disease Autosomal dominant torsion dystonia 4 NCBI curation C1851943 128101 16 Feb 2016 Disease Autosomal dominant trichoodontoonychodysplasia-syndactyly MONDO C2931239 MONDO:0018062 17 Apr 2020 Disease Autosomal erythropoietic protoporphyria Orphanet CN283243 ORPHA79278 29 Jun 2020 Disease Autosomal genetic disease MONDO C0265384 MONDO:0000429 17 Apr 2020 Disease Autosomal hypohidrotic ectodermal dysplasia NCBI curation CN118829 16 Feb 2016 Disease Autosomal ichthyosis syndrome MONDO CN202791 MONDO:0017270 17 Apr 2020 Disease Autosomal ichthyosis syndrome with fatal disease course MONDO CN202794 MONDO:0017273 17 Apr 2020 Disease Autosomal ichthyosis syndrome with other associated signs MONDO CN202795 MONDO:0017274 17 Apr 2020 Disease Autosomal ichthyosis syndrome with prominent hair abnormalities MONDO CN202792 MONDO:0017271 17 Apr 2020 Disease Autosomal ichthyosis syndrome with prominent neurologics signs MONDO CN202793 MONDO:0017272 17 Apr 2020 Disease Autosomal recessive AGK-related phenotype 21 Dec 2019 Disease Autosomal recessive ataxia due to PEX10 deficiency MONDO CN201819 MONDO:0016614 17 Apr 2020 Disease Autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect MONDO CN258717 MONDO:0033850 17 Apr 2020 Disease Autosomal recessive axonal hereditary motor and sensory neuropathy NCBI curation CN252645 26 Jul 2018 Disease Autosomal recessive axonal neuropathy with neuromyotonia NCBI curation CN074193 137200 31 Oct 2018 Disease Autosomal recessive brachyolmia MONDO C4760908 MONDO:0018662 17 Apr 2020 Disease Autosomal recessive centronuclear myopathy C0410204 255200 16 Feb 2016 Disease Autosomal recessive cerebellar ataxia Orphanet CN226644 ORPHA1172 04 Feb 2018 Disease Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome MONDO CN226191 MONDO:0018446 17 Apr 2020 Disease Autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome MONDO CN204693 MONDO:0018189 17 Apr 2020 Disease Autosomal recessive cerebellar ataxia due to a DNA repair defect MONDO CN227741 MONDO:0020045 17 Apr 2020 Disease Autosomal recessive cerebellar ataxia with cabc1/adck3 gene mutations 16 Feb 2016 Disease Autosomal recessive cerebellar ataxia with late-onset spasticity MONDO C4706412 MONDO:0018129 17 Apr 2020 Disease Autosomal recessive cerebellar ataxia-blindness-deafness syndrome MONDO C1849094 MONDO:0010061 271250 17 Apr 2020 Disease Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome MONDO C1846492 MONDO:0011811 607317 17 Apr 2020 Disease Autosomal recessive cerebral atrophy MONDO C4755252 MONDO:0018218 17 Apr 2020 Disease Autosomal recessive chorioretinopathy-microcephaly syndrome NCBI curation C3502492 23 Aug 2019 Disease Autosomal recessive complex spastic paraplegia MONDO CN228909 MONDO:0015089 17 Apr 2020 Disease Autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction MONDO CN258721 MONDO:0044737 17 Apr 2020 Disease Autosomal recessive congenital cerebellar ataxia MONDO CN227740 MONDO:0020043 17 Apr 2020 Disease Autosomal recessive congenital ichthyosis CN279279 27 Aug 2019 Disease Autosomal recessive congenital ichthyosis 1 NCBI curation C4551630 242300 16 Feb 2016 Disease Autosomal recessive congenital ichthyosis 10 NCBI curation C3554355 615024 16 Feb 2016 Disease Autosomal recessive congenital ichthyosis 2 NCBI curation C3888093 242100 16 Feb 2016 Disease Autosomal recessive congenital ichthyosis 3 NCBI curation C3539888 606545 16 Feb 2016 Disease Autosomal recessive congenital ichthyosis 4A NCBI curation C1832550 601277 16 Feb 2016 Disease Autosomal recessive congenital ichthyosis 4B NCBI curation C0598226 242500 16 Feb 2016 Disease Autosomal recessive congenital ichthyosis 5 NCBI curation C1858133 604777 16 Feb 2016 Disease Autosomal recessive congenital ichthyosis 6 NCBI curation C2677065 612281 16 Feb 2016 Disease Autosomal recessive congenital ichthyosis 7 NCBI curation C3554348 615022 16 Feb 2016 Disease Autosomal recessive congenital ichthyosis 8 NCBI curation C3553029 613943 16 Feb 2016 Disease Autosomal recessive congenital ichthyosis 9 NCBI curation C3554349 615023 16 Feb 2016 Disease Autosomal recessive cutis laxa type 1B NCBI curation C3280798 614437 16 Feb 2016 Disease Autosomal recessive cutis laxa type 2 MONDO C0432337 MONDO:0019573 17 Apr 2020 Disease Autosomal recessive cutis laxa type 2B NCBI curation C2751987 612940 16 Feb 2016 Disease Autosomal recessive cutis laxa type 2c MONDO C4479387 MONDO:0027462 617402 22 Apr 2020 Disease Autosomal recessive cutis laxa type 2d MONDO C4479409 MONDO:0027451 617403 22 Apr 2020 Disease Autosomal recessive cutis laxa type 3B NCBI curation C3280799 614438 16 Feb 2016 Disease Autosomal recessive cutis laxa type IA NCBI curation C0268351 219100 16 Feb 2016 Disease Autosomal recessive deafness Type 1B CN674504 08 Dec 2017 Disease Autosomal recessive degenerative and progressive cerebellar ataxia MONDO CN229259 MONDO:0020046 17 Apr 2020 Disease Autosomal recessive Dejerine-Sottas syndrome NCBI curation CN069172 16 Feb 2016 Disease Autosomal recessive disease MONDO C0265388 MONDO:0006025 17 Apr 2020 Disease Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature MONDO CN203567 MONDO:0017680 17 Apr 2020 Disease Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature MONDO CN203557 MONDO:0017671 17 Apr 2020 Disease Autosomal recessive disease with focal palmoplantar keratoderma as a major feature MONDO CN207000 MONDO:0020097 17 Apr 2020 Disease Autosomal recessive distal hereditary motor neuropathy NCBI curation CN252643 26 Jul 2018 Disease Autosomal recessive distal myopathy MONDO CN229019 MONDO:0016109 17 Apr 2020 Disease Autosomal recessive distal osteolysis syndrome MONDO C1850143 MONDO:0009810 259610 17 Apr 2020 Disease Autosomal recessive dyskeratosis congenita NCBI curation C3502105 24 Dec 2017 Disease Autosomal recessive Ehlers-Danlos syndrome, vascular type MONDO C0268340 MONDO:0002014 17 Apr 2020 Disease Autosomal recessive epidermolytic ichthyosis MONDO MONDO:0044742 17 Apr 2020 Disease Autosomal recessive frontotemporal pachygyria MONDO C1853215 MONDO:0012462 610279 17 Apr 2020 Disease Autosomal recessive hearing impairment with normal menstrual cycles CN233178 16 Feb 2016 Disease Autosomal recessive hereditary demyelinating motor and sensory neuropathy MONDO CN228928 MONDO:0015361 17 Apr 2020 Disease Autosomal recessive hereditary sensory and autonomic neuropathy MONDO CN228933 MONDO:0015366 17 Apr 2020 Disease Autosomal recessive hyperinsulinism due to Kir6.2 deficiency MONDO C5191078 MONDO:0019334 17 Apr 2020 Disease Autosomal recessive hyperinsulinism due to SUR1 deficiency MONDO C5191077 MONDO:0019333 17 Apr 2020 Disease Autosomal recessive hypohidrotic ectodermal dysplasia syndrome C3887494 224900 16 Feb 2016 Disease Autosomal recessive hypophosphatemic bone disease C1853271 241530 16 Feb 2016 Disease Autosomal recessive hypophosphatemic vitamin D refractory rickets C4551495 241520 16 Feb 2016 Disease Autosomal Recessive Hypotrichosis with Woolly Hair CN237175 11 Jul 2016 Disease Autosomal recessive infantile epilepsy NCBI curation CN183915 16 Feb 2016 Disease Autosomal recessive infantile hypercalcemia Orphanet C4329374 ORPHA300547 16 Oct 2016 Disease Autosomal recessive intermediate Charcot-Marie-Tooth disease MONDO CN202416 MONDO:0017058 17 Apr 2020 Disease Autosomal recessive isolated diffuse palmoplantar keratoderma MONDO CN229269 MONDO:0020096 17 Apr 2020 Disease Autosomal recessive Kenny-Caffey syndrome MONDO C1855648 MONDO:0009486 244460 22 Apr 2020 Disease Autosomal recessive keratitis-ichthyosis-deafness syndrome C1275089 242150 16 Feb 2016 Disease Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome MONDO C4749919 MONDO:0017804 17 Apr 2020 Disease Autosomal recessive limb girdle muscular dystrophy type 2S NCBI curation C4517996 11 Jul 2018 Disease Autosomal recessive limb-girdle muscular dystrophy type 2B MONDO C1850889 MONDO:0009676 253601 17 Apr 2020 Disease Autosomal recessive limb-girdle muscular dystrophy type 2D MONDO C2936332 MONDO:0011968 608099 17 Apr 2020 Disease Autosomal recessive limb-girdle muscular dystrophy type 2E MONDO C1858593 MONDO:0011423 604286 17 Apr 2020 Disease Autosomal recessive limb-girdle muscular dystrophy type 2F MONDO C1832525 MONDO:0011028 601287 17 Apr 2020 Disease Autosomal recessive limb-girdle muscular dystrophy type 2G MONDO C1866008 MONDO:0011170 601954 17 Apr 2020 Disease Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency MONDO CN203953 MONDO:0017897 17 Apr 2020 Disease Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency MONDO CN203954 MONDO:0017898 17 Apr 2020 Disease Autosomal recessive metabolic cerebellar ataxia MONDO CN229258 MONDO:0020044 17 Apr 2020 Disease Autosomal recessive multiple pterygium syndrome MONDO C0265261 MONDO:0009926 265000 17 Apr 2020 Disease Autosomal recessive myogenic arthrogryposis multiplex congenita C4707155 14 Jun 2019 Disease Autosomal recessive non-syndromic intellectual disability Orphanet CN236713 ORPHA88616 01 Jun 2016 Disease Autosomal recessive non-syndromic sensorineural deafness type DFNB Orphanet CN238848 ORPHA90636 30 Oct 2016 Disease Autosomal recessive nonsyndromic congenital nuclear cataract C2931470 16 Feb 2016 Disease Autosomal recessive nonsyndromic deafness 47 MONDO C1864964 MONDO:0012375 609946 17 Apr 2020 Disease Autosomal recessive nonsyndromic deafness 51 MONDO C1864968 MONDO:0012370 609941 17 Apr 2020 Disease Autosomal recessive nonsyndromic deafness 55 MONDO C1864962 MONDO:0012376 609952 17 Apr 2020 Disease Autosomal recessive Noonan-like syndrome due to compound heterozygous variants in LZTR1 27 Apr 2018 Finding Autosomal recessive ocular albinism C0268503 15 Nov 2018 Disease Autosomal recessive omodysplasia MONDO C1850318 MONDO:0009779 258315 22 Apr 2020 Disease Autosomal recessive optic atrophy MONDO CN229293 MONDO:0014753 17 Apr 2020 Disease Autosomal recessive osteopetrosis NCBI curation C4272578 05 Feb 2020 Disease Autosomal recessive osteopetrosis 1 MONDO C1850127 MONDO:0009815 259700 22 Apr 2020 Disease Autosomal recessive osteopetrosis 2 MONDO C1850126 MONDO:0009816 259710 22 Apr 2020 Disease Autosomal recessive osteopetrosis 4 MONDO C1969106 MONDO:0012676 611490 22 Apr 2020 Disease Autosomal recessive osteopetrosis 6 MONDO C1969093 MONDO:0012679 611497 22 Apr 2020 Disease Autosomal recessive osteopetrosis 7 MONDO C2676766 MONDO:0012859 612301 22 Apr 2020 Disease Autosomal recessive palmoplantar keratoderma and congenital alopecia MONDO C1859316 MONDO:0008923 212360 17 Apr 2020 Disease Autosomal recessive pericentral pigmentary retinopathy MONDO C1849398 MONDO:0009987 268060 22 Apr 2020 Disease autosomal recessive PIEZO2 associated disease CN238811 25 Oct 2016 Disease Autosomal recessive polycystic kidney disease Orphanet C0085548 ORPHA731 263200 22 Jan 2017 Disease Autosomal recessive polyposis NCBI curation CN239048 04 Jan 2017 Disease Autosomal recessive pseudohypoaldosteronism type 1 MONDO C1449843 MONDO:0009917 264350 22 Apr 2020 Disease Autosomal recessive pure spastic paraplegia MONDO CN228910 MONDO:0015090 17 Apr 2020 Disease Autosomal recessive retinitis pigmentosa NCBI curation C0339526 15 Feb 2019 Disease Autosomal recessive secondary polycythemia not associated with VHL gene MONDO CN226972 MONDO:0016598 17 Apr 2020 Disease Autosomal recessive sensorineural hearing loss 24 Sep 2018 Disease Autosomal recessive severe congenital neutropenia CN239554 09 Dec 2016 Disease Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency MONDO C5190862 MONDO:0018487 17 Apr 2020 Disease Autosomal recessive Severe Developmental Delay 13 Jul 2018 Finding Autosomal recessive sideroblastic anemia C4274077 14 Jun 2019 Disease Autosomal recessive spastic ataxia CN279276 23 Aug 2019 Disease Autosomal recessive spastic paraplegia type 59 MONDO C4750857 MONDO:0018416 17 Apr 2020 Disease Autosomal recessive spastic paraplegia type 60 MONDO C5190589 MONDO:0018417 17 Apr 2020 Disease Autosomal recessive spastic paraplegia type 66 MONDO C5190590 MONDO:0018418 17 Apr 2020 Disease Autosomal recessive spastic paraplegia type 67 MONDO C4707829 MONDO:0018419 17 Apr 2020 Disease Autosomal recessive spastic paraplegia type 68 MONDO CN226127 MONDO:0018420 17 Apr 2020 Disease Autosomal recessive spastic paraplegia type 69 MONDO C5190577 MONDO:0018421 17 Apr 2020 Disease Autosomal recessive spastic paraplegia type 7 13 Oct 2017 Disease Autosomal recessive spastic paraplegia type 70 MONDO C4749431 MONDO:0018422 17 Apr 2020 Disease Autosomal recessive spastic paraplegia type 71 MONDO C5190578 MONDO:0018423 17 Apr 2020 Disease Autosomal recessive spondylocostal dysostosis Orphanet CN043670 ORPHA2311 16 Feb 2016 Disease Autosomal recessive spondyloepimetaphyseal dysplasia C0432213 271650 16 Feb 2016 Disease Autosomal recessive Stickler syndrome MONDO CN201875 MONDO:0016647 17 Apr 2020 Disease Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects CN178542 16 Feb 2016 Disease Autosomal recessive syndromic cerebellar ataxia MONDO CN227742 MONDO:0020047 17 Apr 2020 Disease Autosomal recessive woolly hair 1, with or without hypotrichosis NCBI curation C1848435 16 Feb 2016 Disease Autosomal recessive woolly hair 3 NCBI curation C4225214 616760 16 Feb 2016 Disease Autosomal semi-dominant severe lipodystrophic laminopathy MONDO CN202719 MONDO:0017230 17 Apr 2020 Disease Autosomal thrombocytopenia with normal platelets MONDO CN200175 MONDO:0015679 17 Apr 2020 Disease Autosomal trisomy MONDO C1996945 MONDO:0020050 17 Apr 2020 Disease Autosomal uniparental disomy MONDO CN229262 MONDO:0020055 17 Apr 2020 Disease Autosomal-Recessive Hereditary Hearing Impairment 07 Apr 2020 Disease Autotopagnosia MONDO C0234511 MONDO:0000668 17 Apr 2020 Disease AV block 14 Mar 2019 Finding AV Block Third Degree Adverse Event C1560277 16 Feb 2016 Finding AV junctional rhythm C0232208 16 Feb 2016 Disease AV nodal reentry tachycardia Human Phenotype Ontology C0340477 HP:0011717 16 Feb 2016 Finding AV nodal tachycardia Human Phenotype Ontology C0857265 HP:0011687 16 Feb 2016 Finding Avascular necrosis of femoral head, primary, 2 NCBI curation C4479260 617383 20 Jun 2017 Disease Avascular necrosis of genetic origin MONDO CN229162 MONDO:0018384 17 Apr 2020 Disease Avascular necrosis of the head of femur NCBI curation C4551562 608805 16 Feb 2016 Disease Avatrombopag Response CN282542 17 Jun 2020 Pharmacological response Avellino corneal dystrophy C1275685 607541 16 Feb 2016 Disease Avian influenza MONDO C0016627 MONDO:0018695 04 Jun 2020 Infectious disease Avian leukosis MONDO C0004421 MONDO:0025381 17 Apr 2020 Disease AVL induced bursal lymphoma MONDO MONDO:0005581 17 Apr 2020 Disease Avoidant personality disorder MONDO C0004444 MONDO:0002027 17 Apr 2020 Disease Avulavirus infectious disease MONDO C1258034 MONDO:0005660 04 Jun 2020 Infectious disease Axenfeld anomaly Human Phenotype Ontology C0266548 HP:0001492 16 Feb 2016 Disease Axenfeld-rieger anomaly NCBI curation CN043181 16 Feb 2016 Disease Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities NCBI curation C1862373 109120 16 Feb 2016 Disease Axenfeld-Rieger anomaly, scoliosis CN235145 16 Feb 2016 Finding Axenfeld-Rieger Syndrome C3495488 02 Dec 2016 Disease Axenfeld-Rieger syndrome type 1 NCBI curation C3714873 180500 16 Feb 2016 Disease Axenfeld-Rieger syndrome type 2 C1832229 601499 16 Feb 2016 Disease Axenfeld-Rieger syndrome type 3 C2678503 602482 16 Feb 2016 Disease Axial dystonia Human Phenotype Ontology C1836149 HP:0002530 16 Feb 2016 Finding Axial malrotation of the kidney Human Phenotype Ontology C4025300 HP:0004717 16 Feb 2016 Finding Axial mesodermal dysplasia spectrum C2931613 16 Feb 2016 Disease Axial muscle atrophy Human Phenotype Ontology C4477031 HP:0040287 04 Apr 2018 Finding Axial muscle stiffness Human Phenotype Ontology C4024962 HP:0006921 16 Feb 2016 Finding Axial muscle weakness Human Phenotype Ontology C1843697 HP:0003327 16 Feb 2016 Finding Axial myopathy, late-onset CN221569 16 Feb 2016 Disease Axial osteomalacia C1862372 109130 16 Feb 2016 Disease Axial osteosclerosis C0432264 166450 16 Feb 2016 Disease Axial spondylometaphyseal dysplasia MONDO C1865695 MONDO:0011211 602271 22 Apr 2020 Disease Axillary and groin hyperpigmentation and hypopigmentation Human Phenotype Ontology C4024866 HP:0007471 16 Feb 2016 Finding Axillary apocrine gland hypoplasia Human Phenotype Ontology C1867003 HP:0007397 16 Feb 2016 Finding Axillary epidermoid cyst Human Phenotype Ontology C4022859 HP:0012540 16 Feb 2016 Finding Axillary freckling Human Phenotype Ontology C1860335 HP:0000997 16 Feb 2016 Finding Axillary lipoma MONDO C0347429 MONDO:0000974 17 Apr 2020 Disease Axillary lymphadenitis MONDO C0919797 MONDO:0003070 17 Apr 2020 Disease Axillary neoplasm MONDO C1290308 MONDO:0036779 17 Apr 2020 Disease Axillary odor NCBI curation C3149148 16 Feb 2016 Disease Axillary pterygia Human Phenotype Ontology C1844738 HP:0001060 16 Feb 2016 Finding AXIN2-related attenuated familial adenomatous polyposis MONDO CN226139 MONDO:0018426 17 Apr 2020 Disease Axon pathfinding, cardiac, ocular and genital defects 17 Jan 2020 Disease Axonal degeneration Human Phenotype Ontology C1837496 HP:0040078 16 Feb 2016 Finding Axonal degeneration/regeneration Human Phenotype Ontology C1968790 HP:0003378 16 Feb 2016 Finding Axonal hereditary motor and sensory neuropathy MONDO CN776843 MONDO:0018775 17 Apr 2020 Disease Axonal loss Human Phenotype Ontology C1832338 HP:0003447 16 Feb 2016 Finding axonal polyneuropathy C3278953 16 Feb 2016 Finding Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy MONDO CN229040 MONDO:0016176 17 Apr 2020 Disease Axonal regeneration Human Phenotype Ontology C1854454 HP:0003450 16 Feb 2016 Finding axonal type CN220920 16 Feb 2016 Finding axonemas with defects on microtubules CN196905 16 Feb 2016 Disease Ayme-gripp syndrome NCBI curation C1832812 601088 24 Aug 2016 Disease Azathioprine response NCBI curation CN077959 16 Feb 2016 Pharmacological response azathioprine response - Dosage, Toxicity/ADR PharmGKB CN236486 1184514050 18 May 2016 Pharmacological response azathioprine response - Toxicity/ADR PharmGKB 1449309975PA448515 06 Jul 2018 Pharmacological response Azoospermia Human Phenotype Ontology C0004509 HP:0000027 16 Feb 2016 Disease Azoospermia factor regions NCBI curation 16 Feb 2016 Disease Azorean disease C0024408 109150 16 Feb 2016 Disease Azotemia Human Phenotype Ontology C0242528 HP:0002157 16 Feb 2016 Finding Azotemia, familial NCBI curation C1862358 109160 16 Feb 2016 Disease Azygos continuation of the inferior vena cava MONDO C1859772 MONDO:0020450 17 Apr 2020 Disease B cell deficiency MONDO MONDO:0002211 17 Apr 2020 Disease B cell linker protein deficiency MONDO MONDO:0000584 17 Apr 2020 Disease B cell surface antigen, mouse, homolog-like 1, X-linked NCBI curation C1848088 300113 16 Feb 2016 Disease B lymphoblastic leukemia lymphoma with hyperdiploidy NCBI curation C2698311 22 Apr 2019 Disease B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) NCBI curation C2698314 22 Apr 2019 Disease B lymphoblastic leukemia lymphoma, no ICD-O subtype NCBI curation C3472624 21 Nov 2018 Disease B Lymphoblastic Leukemia/Lymphoma C0862030 15 Mar 2019 Disease B Lymphoblastic Leukemia/Lymphoma with Hypodiploidy C2698312 15 Mar 2019 Disease B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 C2698317 15 Mar 2019 Disease B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged C2698309 15 Mar 2019 Disease B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified C2698310 15 Mar 2019 Disease B lymphocytopenia Human Phenotype Ontology C1855067 HP:0010976 16 Feb 2016 Finding B-cell acute lymphoblastic leukemia MONDO MONDO:0004947 17 Apr 2020 Disease B-cell adult acute lymphocytic leukemia MONDO C0279593 MONDO:0000814 17 Apr 2020 Disease B-cell childhood acute lymphoblastic leukemia MONDO C0279584 MONDO:0000872 17 Apr 2020 Disease B-cell expansion with NFKB and T-cell anergy NCBI curation C4551967 616452 16 Feb 2016 Disease B-cell growth factor NCBI curation C1862295 109540 16 Feb 2016 Disease B-cell immunodeficiency, distal limb anomalies, and urogenital malformations NCBI curation C1836437 609296 16 Feb 2016 Disease B-cell lymphoma Human Phenotype Ontology C0079731 HP:0012191 16 Feb 2016 Finding B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma MONDO C1333878 MONDO:0003658 17 Apr 2020 Disease B-cell neoplasm MONDO MONDO:0004095 17 Apr 2020 Disease B-cell non-Hodgkin lymphoma Orphanet CN228979 ORPHA171915 16 Feb 2016 Disease B-cell prolymphocytic leukemia MONDO C0475801 MONDO:0019461 07 Jun 2020 Disease B-K mole (nevus) syndrome NCBI curation C0013403 16 Feb 2016 Disease B-Lymphoblastic Leukemia/Lymphoma with Intrachromosomal Amplification of Chromosome 21 C4329384 15 Mar 2019 Disease B4GALT1-CDG MONDO C2931009 MONDO:0011772 607091 17 Apr 2020 Disease B9D1-Related Disorders 23 May 2019 Disease Baastrup syndrome MONDO C0158248 MONDO:0003956 17 Apr 2020 Disease Babesiosis C0004576 16 Feb 2016 Infectious disease Babinski sign Human Phenotype Ontology C0034935 HP:0003487 16 Feb 2016 Finding Baboon m7 virus integration site NCBI curation C1412786 109180 16 Feb 2016 Disease Baby rattle pelvic dysplasia 16 Feb 2016 Disease Baby rattle pelvis dysplasia NCBI curation C1853911 605838 16 Feb 2016 Disease Baby with genodermatoses 15 Nov 2019 Finding Bacillaceae infectious disease MONDO C0085389 MONDO:0006923 04 Jun 2020 Infectious disease Bacillary angiomatosis MONDO C0085434 MONDO:0000758 04 Jun 2020 Infectious disease Back pain Human Phenotype Ontology C0004604 HP:0003418 16 Feb 2016 Finding Background diabetic retinopathy MONDO C0004606 MONDO:0001661 17 Apr 2020 Disease Bacteremia, resistance to NCBI curation C3280646 16 Feb 2016 Disease Bacteremia, susceptibility to, 1 NCBI curation C3280645 614382 16 Feb 2016 Disease Bacteremia, susceptibility to, 2 NCBI curation C3280647 614383 16 Feb 2016 Disease Bacterial cell casts Human Phenotype Ontology C4531281 HP:0031204 04 Apr 2018 Finding Bacterial conjunctivitis MONDO C0009768 MONDO:0006668 04 Jun 2020 Infectious disease Bacterial endocarditis Human Phenotype Ontology C0014121 HP:0006689 16 Feb 2016 Infectious disease Bacterial esophagitis MONDO C0341108 MONDO:0001832 04 Jun 2020 Infectious disease Bacterial exanthem MONDO CN281808 MONDO:0006528 04 Jun 2020 Infectious disease Bacterial gastritis MONDO C0948039 MONDO:0002842 04 Jun 2020 Infectious disease Bacterial infection 27 Nov 2018 Disease Bacterial infectious disease MONDO C0004623 MONDO:0005113 04 Jun 2020 Infectious disease Bacterial infectious disease with sepsis MONDO C0004610 MONDO:0005229 04 Jun 2020 Infectious disease Bacterial meningitis C0085437 16 Feb 2016 Infectious disease Bacterial meningitis caused by gram-negative bacteria MONDO C0854215 MONDO:0041825 04 Jun 2020 Infectious disease Bacterial myocarditis MONDO C1384588 MONDO:0001114 17 Apr 2020 Disease Bacterial myositis MONDO C0263979 MONDO:0016127 04 Jun 2020 Infectious disease Bacterial pneumonia MONDO C0004626 MONDO:0004652 04 Jun 2020 Infectious disease Bacterial sexually transmitted disease MONDO C0036917 MONDO:0005323 04 Jun 2020 Infectious disease Bacterial vaginosis MONDO C0085166 MONDO:0005316 04 Jun 2020 Infectious disease Bacteriuria Human Phenotype Ontology C0004659 HP:0012461 16 Feb 2016 Finding Bacteroidaceae infectious disease MONDO C0085392 MONDO:0006705 04 Jun 2020 Infectious disease Bacteroides infectious disease MONDO C0004669 MONDO:0006671 04 Jun 2020 Infectious disease Baculum, congenital absence of NCBI curation C1853565 606174 16 Feb 2016 Disease Bad vision CN236316 13 Apr 2016 Finding Baetz-Greenwalt syndrome C2931615 16 Feb 2016 Disease Bagassosis MONDO C0004681 MONDO:0001540 17 Apr 2020 Disease Bagatelle Cassidy syndrome C2931616 16 Feb 2016 Disease Bailey-Bloch congenital myopathy NCBI curation C1850625 255995 11 Apr 2020 Disease Bainbridge-Ropers syndrome NCBI curation C3809650 615485 16 Feb 2016 Disease BAK PLATELET-SPECIFIC ANTIGEN NCBI curation 15 May 2016 Named protein variant Baker Vinters syndrome C2931659 16 Feb 2016 Disease Balance problems CN188713 16 Feb 2016 Finding Balanced double aortic arch Human Phenotype Ontology C4531038 HP:0031562 04 Apr 2018 Finding Balanitis MONDO C0004690 MONDO:0006672 17 Apr 2020 Disease Balanitis xerotica obliterans MONDO C0152460 MONDO:0001725 17 Apr 2020 Disease Balanoposthitis MONDO C0004691 MONDO:0001618 17 Apr 2020 Disease Balantidiasis C0004692 16 Feb 2016 Infectious disease Balint syndrome MONDO C4707368 MONDO:0018211 17 Apr 2020 Disease Balkan nephropathy C0004698 124100 16 Feb 2016 Disease Ballard syndrome MONDO C1862163 MONDO:0007213 112440 17 Apr 2020 Disease Baller-Gerold syndrome C0265308 218600 16 Feb 2016 Disease Balloon cell malignant melanoma MONDO C0334426 MONDO:0000929 17 Apr 2020 Disease Balo concentric sclerosis MONDO C0004712 MONDO:0016430 17 Apr 2020 Disease Balo disease 16 Feb 2016 Disease Bamforth-Lazarus syndrome MONDO C1855794 MONDO:0009437 241850 17 Apr 2020 Disease Band 3 memphis NCBI curation 16 Feb 2016 Disease Band heterotopia NCBI curation C4284594 600348 20 Jun 2017 Disease Band-shaped corneal dystrophy Human Phenotype Ontology C0155120 HP:0007709 217500 31 May 2018 Disease Band-shaped keratopathy CN971514 31 May 2018 Disease BANF acoustic neurinoma 16 Feb 2016 Disease Banki syndrome C1862319 109300 16 Feb 2016 Disease Bannayan-Riley-Ruvalcaba syndrome Orphanet C0265326 ORPHA109 16 Feb 2016 Disease Banti syndrome MONDO MONDO:0021969 17 Apr 2020 Disease Banti's syndrome 16 Feb 2016 Disease BAP1 Cancer Syndrome CN235077 16 Feb 2016 Disease BAP1 tumor predisposition syndrome C4707290 13 Feb 2020 Disease Baraitser Brett Piesowicz syndrome 16 Feb 2016 Disease Baraitser-Winter Cerebrofrontofacial Syndrome CN257770 02 Nov 2018 Disease Baraitser-Winter syndrome OMIM phenotypic series C1853623 PS243310 01 Jan 2020 Disease Baraitser-Winter syndrome 1 NCBI curation C1855722 243310 16 Feb 2016 Disease Baraitser-Winter Syndrome 2 NCBI curation C3281235 614583 16 Feb 2016 Disease Barber-Say syndrome C1319466 209885 16 Feb 2016 Disease Barbiturate abuse MONDO C0338700 MONDO:0004599 17 Apr 2020 Disease Barbiturate dependence MONDO C0338767 MONDO:0002347 17 Apr 2020 Disease Bardet-Biedl syndrome OMIM phenotypic series C0752166 PS209900 16 Feb 2016 Disease Bardet-Biedl syndrome 1 C2936862 209900 16 Feb 2016 Disease Bardet-Biedl syndrome 1, modifier of NCBI curation C2675305 16 Feb 2016 Disease Bardet-biedl syndrome 1/10, digenic NCBI curation C4017206 08 Apr 2018 Disease Bardet-biedl syndrome 1/2, digenic NCBI curation C4016957 13 Dec 2018 Disease Bardet-Biedl syndrome 1/7, digenic NCBI curation C4016435 17 Aug 2016 Disease Bardet-Biedl syndrome 10 C1859568 615987 16 Feb 2016 Disease Bardet-Biedl syndrome 11 C1859569 615988 16 Feb 2016 Disease Bardet-Biedl syndrome 12 C1859570 615989 16 Feb 2016 Disease Bardet-Biedl syndrome 12, modifier of NCBI curation 16 Feb 2016 Disease Bardet-Biedl syndrome 13 NCBI curation C2673873 615990 16 Feb 2016 Disease Bardet-Biedl syndrome 14 NCBI curation C2673874 615991 16 Feb 2016 Disease Bardet-Biedl syndrome 14, modifier of NCBI curation C4017203 16 Feb 2016 Disease Bardet-Biedl syndrome 15 NCBI curation C3150127 615992 16 Feb 2016 Disease Bardet-Biedl syndrome 16 NCBI curation C3889474 615993 16 Feb 2016 Disease Bardet-Biedl syndrome 17 NCBI curation C3714980 615994 16 Feb 2016 Disease Bardet-Biedl syndrome 18 NCBI curation C3806174 615995 16 Feb 2016 Disease Bardet-Biedl syndrome 19 NCBI curation C3889475 615996 16 Feb 2016 Disease Bardet-Biedl syndrome 2 C2936863 615981 16 Feb 2016 Disease Bardet-biedl syndrome 2/4, digenic NCBI curation C4016956 13 Dec 2018 Disease Bardet-biedl syndrome 2/6, digenic NCBI curation C4016908 13 Dec 2018 Disease Bardet-Biedl syndrome 20 NCBI curation C4310707 617119 20 Jun 2017 Disease Bardet-Biedl syndrome 21 NCBI curation C4319932 617406 21 Jun 2017 Disease Bardet-Biedl syndrome 3 C1859564 600151 16 Feb 2016 Disease Bardet-Biedl syndrome 4 NCBI curation C2936864 615982 22 May 2020 Disease Bardet-Biedl syndrome 5 NCBI curation C3892039 615983 16 Feb 2016 Disease Bardet-Biedl syndrome 6 C1858054 605231 16 Feb 2016 Disease Bardet-biedl syndrome 6/10, digenic NCBI curation C4017660 08 Apr 2018 Disease Bardet-Biedl syndrome 7 C1859565 615984 16 Feb 2016 Disease Bardet-Biedl syndrome 8 C1859566 615985 16 Feb 2016 Disease Bardet-Biedl syndrome 9 C1859567 615986 16 Feb 2016 Disease Bare lymphocyte syndrome 2 NCBI curation C2931418 209920 25 Dec 2017 Disease Bare lymphocyte syndrome type 1 NCBI curation C1858266 604571 16 Feb 2016 Disease Bare lymphocyte syndrome type 2, complementation group A NCBI curation C1859534 16 Feb 2016 Disease Bare lymphocyte syndrome type 2, complementation group E NCBI curation C1859538 16 Feb 2016 Disease Bare lymphocyte syndrome, type II, complementation group B NCBI curation C1859535 13 Sep 2018 Disease Bare lymphocyte syndrome, type II, complementation group c NCBI curation C1859536 26 May 2016 Disease Bare Lymphocyte Syndrome, Type II, Complementation Group D NCBI curation C1859537 16 Feb 2016 Disease Baritosis C0340177 16 Feb 2016 Disease Barmah forest virus disease MONDO CN281936 MONDO:0000343 04 Jun 2020 Infectious disease Barnicoat Baraitser syndrome 16 Feb 2016 Disease Baroreflex failure C4736120 16 Feb 2016 Disease Barre-Lieou syndrome MONDO MONDO:0005663 22 Apr 2020 Disease Barrel-shaped chest Human Phenotype Ontology C0264172 HP:0001552 16 Feb 2016 Finding Barrett adenocarcinoma MONDO C1332460 MONDO:0004405 17 Apr 2020 Disease Barrett esophagus Human Phenotype Ontology C0004763 HP:0100580 614266 10 Apr 2018 Disease Barrett esophagus/esophageal adenocarcinoma NCBI curation C3277074 31 Mar 2018 Disease Bartholin duct cyst MONDO C0004767 MONDO:0004593 17 Apr 2020 Disease Bartholin gland adenocarcinoma MONDO C0238016 MONDO:0003853 17 Apr 2020 Disease Bartholin gland adenoid cystic carcinoma MONDO C1511047 MONDO:0003187 17 Apr 2020 Disease Bartholin gland adenoma MONDO C1511048 MONDO:0003419 17 Apr 2020 Disease Bartholin gland adenomyoma MONDO C1511049 MONDO:0003909 17 Apr 2020 Disease Bartholin gland adenosquamous carcinoma MONDO C1511050 MONDO:0003555 17 Apr 2020 Disease Bartholin gland benign neoplasm MONDO MONDO:0002193 17 Apr 2020 Disease Bartholin gland carcinoma Human Phenotype Ontology C0349561 HP:0030419 16 Feb 2016 Finding Bartholin gland neoplasm MONDO C0220616 MONDO:0021114 17 Apr 2020 Disease Bartholin gland small cell carcinoma MONDO C1511051 MONDO:0004120 17 Apr 2020 Disease Bartholin gland squamous cell carcinoma MONDO C1511052 MONDO:0004053 17 Apr 2020 Disease Bartholin gland transitional cell carcinoma MONDO C1511053 MONDO:0002828 17 Apr 2020 Disease Bartonellaceae infectious disease MONDO C0004773 MONDO:0006924 04 Jun 2020 Infectious disease Bartonellosis MONDO C0004771 MONDO:0005664 04 Jun 2020 Infectious disease Bartsocas-Papas syndrome MONDO C1849718 MONDO:0009901 263650 22 Apr 2020 Disease Bartter disease type 4a MONDO C1865270 MONDO:0011242 602522 17 Apr 2020 Disease Bartter syndrome OMIM phenotypic series C0004775 PS601678 10 Sep 2018 Disease Bartter syndrome type 3 NCBI curation C1846343 607364 16 Feb 2016 Disease Bartter Syndrome Type 4B, CLCNKA/CLCNKB Digenic CN230129 16 Feb 2016 Disease Bartter syndrome, type 1, antenatal NCBI curation C1866495 601678 12 Mar 2017 Disease Bartter syndrome, type 2, antenatal NCBI curation C1855849 241200 21 Oct 2017 Disease Bartter syndrome, type 3, with hypocalciuria NCBI curation C1846344 09 Jan 2017 Disease Bartter syndrome, type 4b NCBI curation C4310805 613090 16 Feb 2016 Disease Bartter syndrome, type 4b, digenic CN258966 12 Jun 2019 Disease BARTTER SYNDROME, TYPE 4B, WITH SENSORINEURAL DEAFNESS 14 May 2016 Disease Bartter syndrome, type 5, antenatal, transient NCBI curation C4310820 300971 26 Sep 2016 Disease Basal cell carcinoma Human Phenotype Ontology C4721806 HP:0002671 04 Apr 2018 Disease Basal cell carcinoma 2 NCBI curation C2751606 613058 16 Feb 2016 Disease Basal cell carcinoma 3 NCBI curation C2751605 613059 16 Feb 2016 Disease Basal cell carcinoma 4 NCBI curation C2751602 613061 16 Feb 2016 Disease Basal cell carcinoma 5 NCBI curation C2751601 613062 16 Feb 2016 Disease Basal cell carcinoma 6 NCBI curation C2751600 613063 16 Feb 2016 Disease Basal cell carcinoma with follicular differentiation C1304297 604451 16 Feb 2016 Disease Basal cell carcinoma, nonsyndromic NCBI curation 16 Feb 2016 Disease Basal cell carcinoma, somatic NCBI curation C3838465 16 Feb 2016 Disease Basal cell carcinoma, susceptibility to, 7 NCBI curation C3553606 614740 16 Feb 2016 Disease Basal cell nevi C1862314 16 Feb 2016 Finding Basal cell nevus anodontia abnormal bone mineralization 16 Feb 2016 Disease Basal encephalocele Human Phenotype Ontology C4023176 HP:0011817 16 Feb 2016 Finding Basal epidermolysis bullosa simplex MONDO C4302031 MONDO:0015551 17 Apr 2020 Disease Basal ganglia calcification Human Phenotype Ontology C1389280 HP:0002135 16 Feb 2016 Finding Basal ganglia calcification, idiopathic, 4 NCBI curation C3554321 615007 16 Feb 2016 Disease Basal ganglia calcification, idiopathic, 6 NCBI curation C4225335 616413 16 Feb 2016 Disease BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE OMIM C5193025 618317 618317 10 Feb 2019 Disease BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE OMIM CN263397 618824 618824 29 Mar 2020 Disease Basal ganglia calcification, idiopathic, childhood-onset MONDO C1861967 MONDO:0007247 114100 22 Apr 2020 Disease Basal ganglia cerebrovascular disease MONDO C0751739 MONDO:0006505 17 Apr 2020 Disease Basal ganglia cysts Human Phenotype Ontology C1837251 HP:0006799 16 Feb 2016 Finding Basal ganglia edema Human Phenotype Ontology C4476559 HP:0025039 02 Apr 2017 Finding Basal ganglia gliosis Human Phenotype Ontology C2750915 HP:0006999 16 Feb 2016 Finding Basal ganglia necrosis Human Phenotype Ontology C4023035 HP:0012128 16 Feb 2016 Finding Basal lamina 'onion bulb' formation Human Phenotype Ontology C1866637 HP:0003400 16 Feb 2016 Finding Basal laminar drusen C0730295 126700 16 Feb 2016 Disease Basal-like breast carcinoma MONDO C3642347 MONDO:0004984 17 Apr 2020 Disease Basalioma of the outer ear Human Phenotype Ontology C4022442 HP:0040098 16 Feb 2016 Finding Basaloid carcinoma MONDO C1704216 MONDO:0006102 17 Apr 2020 Disease Basaloid carcinoma of the penis MONDO C1332462 MONDO:0004089 17 Apr 2020 Disease Basaloid follicular hamartoma C0474964 16 Feb 2016 Disease Basaloid follicular hamartoma syndrome, generalized, autosomal dominant NCBI curation C1853919 605827 16 Feb 2016 Disease Basaloid large cell lung carcinoma MONDO C1332463 MONDO:0004087 17 Apr 2020 Disease Basaloid squamous cell carcinoma MONDO C1266005 MONDO:0003486 17 Apr 2020 Disease Basan syndrome C0406707 129200 16 Feb 2016 Disease Basaran Yilmaz syndrome C2931577 16 Feb 2016 Disease Basedow's coma 16 Feb 2016 Disease Basel-Vanagaite-Smirin-Yosef syndrome NCBI curation C4225323 616449 16 Feb 2016 Disease Basidiobolomycosis MONDO C0343965 MONDO:0000302 04 Jun 2020 Infectious disease Basilar artery calcification Human Phenotype Ontology C4531209 HP:0031310 04 Apr 2018 Finding Basilar artery insufficiency MONDO C0004812 MONDO:0002250 17 Apr 2020 Disease Basilar artery occlusion MONDO C0265098 MONDO:0001715 17 Apr 2020 Disease Basilar impression Human Phenotype Ontology C4551802 HP:0005758 16 Feb 2016 Finding Basilar invagination Human Phenotype Ontology C3887851 HP:0012366 16 Feb 2016 Finding Basilar migraine 16 Feb 2016 Disease BASILICATA-AKHTAR SYNDROME OMIM C5231394 301032 301032 14 Dec 2019 Disease Basosquamous carcinoma MONDO C0007118 MONDO:0003264 17 Apr 2020 Disease Bassoe syndrome 16 Feb 2016 Disease Bathing suit ichthyosis MONDO C4511230 MONDO:0015085 17 Apr 2020 Disease Battaglia Neri syndrome 16 Feb 2016 Disease Bazopoulou Kyrkanidou syndrome C2931580 16 Feb 2016 Disease BBS2-Related Disorders CN239228 02 Dec 2016 Disease BCC1 OMIM C2751544 605462 605462 17 Apr 2020 Disease BCC1 MONDO C2751544 MONDO:0011556 605462 17 Apr 2020 Disease BCG and Salmonella infection, disseminated NCBI curation C1859528 12 Jun 2020 Disease BCG infection, generalized familial NCBI curation C1859527 12 Jun 2020 Disease Bcg infection, generalized familial semibenign, autosomal dominant NCBI curation 16 Feb 2016 Disease BCGitis NCBI curation C5139070 09 Apr 2020 Finding BCHE Cynthiana NCBI curation 01 May 2020 Disease BCHE Johannesburg NCBI curation 19 Sep 2018 Disease BCHE Newfoundland NCBI curation 14 May 2020 Disease BCHE, fluoride 2 NCBI curation C3889588 20 Apr 2016 Disease Bche, h variant NCBI curation 16 Feb 2016 Disease Bche, j variant NCBI curation 16 Feb 2016 Disease BCS1L-Related Disorders CN239240 02 Dec 2016 Disease BCVA reduced to light perception, nystagmus, oculodigit sign, extinguished ERG CN236376 22 Apr 2016 Finding BCYM1A OMIM C1849055 271530 271530 17 Apr 2020 Disease BCYM1A MONDO C1849055 MONDO:0010070 271530 17 Apr 2020 Disease Bd syndrome 16 Feb 2016 Disease Beaded hair C0546966 158000 16 Feb 2016 Disease Beaded ribs Human Phenotype Ontology C0426824 HP:0000923 16 Feb 2016 Finding Beaded vitreous appearance Human Phenotype Ontology C4477007 HP:0031154 04 Apr 2018 Finding Beaked nails Human Phenotype Ontology C4280752 HP:0030817 02 Apr 2017 Finding beaked vertebrae CN238717 19 Oct 2016 Finding Beaking of vertebral bodies Human Phenotype Ontology C1856599 HP:0004568 16 Feb 2016 Finding Beaking of vertebral bodies T12-L3 Human Phenotype Ontology C1854941 HP:0004562 16 Feb 2016 Finding Beardwell syndrome C2931581 16 Feb 2016 Disease Beare-Stevenson cutis gyrata syndrome MONDO C1852406 MONDO:0007412 123790 22 Apr 2020 Disease Beaten bronze macular sheen Human Phenotype Ontology C4476614 HP:0025147 02 Apr 2017 Finding Beaulieu-Boycott-Innes syndrome NCBI curation C3150939 613680 16 Feb 2016 Disease BECK-FAHRNER SYNDROME OMIM CN263349 618798 618798 06 Mar 2020 Disease Becker muscular dystrophy C0917713 300376 16 Feb 2016 Disease Becker muscular dystrophy, atypical NCBI curation C4016475 16 Feb 2016 Disease Becker nevus syndrome C1858042 604919 16 Feb 2016 Disease Becker's nevus 16 Feb 2016 Disease Beckwith-Wiedemann syndrome C0004903 130650 16 Feb 2016 Disease Beckwith-Wiedemann syndrome due to 11p15 microdeletion MONDO CN201472 MONDO:0016477 17 Apr 2020 Disease Beckwith-Wiedemann syndrome due to 11p15 microduplication MONDO CN206810 MONDO:0019875 17 Apr 2020 Disease Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion MONDO CN201473 MONDO:0016478 17 Apr 2020 Disease Beckwith-Wiedemann syndrome due to CDKN1C mutation NCBI curation CN257592 26 Jul 2018 Disease Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 MONDO CN201470 MONDO:0016475 17 Apr 2020 Disease Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 MONDO CN206842 MONDO:0019923 17 Apr 2020 Disease Beemer-Ertbruggen syndrome MONDO C1859526 MONDO:0008857 209970 22 Apr 2020 Disease Beeturia NCBI curation C1862292 109600 16 Feb 2016 Disease Beevor's sign Human Phenotype Ontology C0231616 HP:0030664 02 Apr 2017 Finding Behavior abnormalities 18 Apr 2019 Finding Behavior disorder NCBI curation C0004930 16 Feb 2016 Disease Behavioral abnormality Human Phenotype Ontology C0233514 HP:0000708 16 Feb 2016 Finding Behavioral difficulties 23 Jan 2020 Finding behavioral disorder 22 Aug 2019 Finding Behavioral issues CN235480 11 Mar 2016 Finding Behavioral variant of frontotemporal dementia MONDO C4011788 MONDO:0017160 17 Apr 2020 Disease Behavioural abnormality 10 Feb 2020 Finding Behcet syndrome arthropathy MONDO C0157770 MONDO:0002074 17 Apr 2020 Disease Behcet's syndrome C0004943 109650 16 Feb 2016 Disease Behrens Baumann Dust syndrome C2931582 16 Feb 2016 Disease Bejel 16 Feb 2016 Disease Belinostat Response CN282543 17 Jun 2020 Pharmacological response Bell's palsy 16 Feb 2016 Disease Bell-shaped thorax Human Phenotype Ontology C1865186 HP:0001591 16 Feb 2016 Finding Bellini Chiumello Rimoldi syndrome 16 Feb 2016 Disease Ben Ari Shuper Mimouni syndrome 16 Feb 2016 Disease Benallegue Lacete syndrome 16 Feb 2016 Disease Bence Jones Proteinuria Human Phenotype Ontology C0004968 HP:0030156 16 Feb 2016 Finding Bencze syndrome MONDO C1841640 MONDO:0007711 141350 17 Apr 2020 Disease Benign adrenal gland pheochromocytoma MONDO C1706920 MONDO:0006103 17 Apr 2020 Disease Benign adult familial myoclonic epilepsy MONDO C4273988 MONDO:0019448 17 Apr 2020 Disease Benign angiitis of the central nervous system 16 Feb 2016 Disease Benign autosomal dominant myopathy 16 Feb 2016 Disease Benign axillary neoplasm MONDO C0684828 MONDO:0036781 17 Apr 2020 Disease Benign blood vessel neoplasm MONDO C0685121 MONDO:0024286 17 Apr 2020 Disease Benign breast adenomyoepithelioma MONDO C1332477 MONDO:0002065 17 Apr 2020 Disease Benign carotid body paraganglioma MONDO C2698359 MONDO:0006104 17 Apr 2020 Disease Benign cephalic histiocytosis MONDO C0347403 MONDO:0015533 17 Apr 2020 Disease Benign childhood occipital epilepsy, Gastaut type MONDO C0393677 MONDO:0020308 17 Apr 2020 Disease Benign childhood occipital epilepsy, Panayiotopoulos type MONDO C0393676 MONDO:0020307 17 Apr 2020 Disease Benign chondrogenic neoplasm MONDO C0852519 MONDO:0024470 17 Apr 2020 Disease Benign choroid plexus neoplasm MONDO C0346290 MONDO:0044764 17 Apr 2020 Disease Benign colon neoplasm MONDO C0004991 MONDO:0002278 17 Apr 2020 Disease Benign conjunctival neoplasm MONDO C0154025 MONDO:0006105 17 Apr 2020 Disease Benign connective and soft tissue neoplasm MONDO C0347481 MONDO:0000654 17 Apr 2020 Disease Benign cystic nephroma MONDO C1266138 MONDO:0002385 17 Apr 2020 Disease Benign deep fibrous histiocytoma MONDO C1266125 MONDO:0002990 17 Apr 2020 Disease Benign dermal neurilemmoma MONDO C1332490 MONDO:0004134 17 Apr 2020 Disease Benign ductal tumor of breast MONDO MONDO:0015874 17 Apr 2020 Disease Benign duodenal neoplasm MONDO C0496869 MONDO:0006734 17 Apr 2020 Disease Benign eccrine breast spiradenoma MONDO C1332492 MONDO:0002055 17 Apr 2020 Disease Benign eccrine neoplasm MONDO C1332493 MONDO:0024247 17 Apr 2020 Disease Benign eccrine spiradenoma 16 Feb 2016 Disease Benign endocrine neoplasm MONDO C0347524 MONDO:0000627 17 Apr 2020 Disease Benign epithelial neoplasm MONDO C0334232 MONDO:0036976 17 Apr 2020 Disease Benign epithelial skin neoplasm MONDO C0345981 MONDO:0024666 17 Apr 2020 Disease Benign essential hypertension MONDO C0155583 MONDO:0001151 17 Apr 2020 Disease Benign exophthalmos syndrome MONDO C4304668 MONDO:0019103 17 Apr 2020 Disease Benign eyelid neoplasm MONDO C0339107 MONDO:0021605 17 Apr 2020 Disease Benign familial hematuria C0241908 141200 16 Feb 2016 Disease Benign familial infantile seizures NCBI curation CN263078 26 Dec 2019 Disease Benign familial mesial temporal lobe epilepsy MONDO C4749273 MONDO:0015586 17 Apr 2020 Disease Benign familial neonatal epilepsy MONDO MONDO:0002016 17 Apr 2020 Disease Benign familial neonatal seizures Orphanet CN230162 ORPHA1949 16 Feb 2016 Disease Benign familial neonatal seizures 1 NCBI curation C3149074 121200 16 Feb 2016 Disease Benign familial neonatal seizures 2 NCBI curation C1852581 121201 16 Feb 2016 Disease Benign familial neonatal-infantile seizures NCBI curation C1843140 607745 05 Jan 2020 Disease Benign familial nocturnal alternating hemiplegia of childhood MONDO C4749822 MONDO:0016209 17 Apr 2020 Disease Benign female reproductive system neoplasm MONDO C0744514 MONDO:0000624 17 Apr 2020 Disease Benign fibrous histiocytoma MONDO C0206644 MONDO:0002989 17 Apr 2020 Disease Benign focal seizures of adolescence MONDO C4275141 MONDO:0015471 17 Apr 2020 Disease Benign gastrointestinal tract tumors Human Phenotype Ontology C0497538 HP:0006719 16 Feb 2016 Finding Benign genitourinary tract neoplasm Human Phenotype Ontology C3804991 HP:0006778 16 Feb 2016 Finding Benign glioma MONDO MONDO:0000638 17 Apr 2020 Disease Benign granular cell tumor MONDO C0027043 MONDO:0003250 17 Apr 2020 Disease Benign hereditary chorea C0393584 118700 16 Feb 2016 Disease Benign hyperphenylalaninemia 16 Feb 2016 Disease Benign hyperproreninemia CN178066 16 Feb 2016 Disease Benign hypertensive renal disease MONDO C0155596 MONDO:0001304 17 Apr 2020 Disease Benign idiopathic neonatal seizures MONDO MONDO:0018981 17 Apr 2020 Disease Benign infantile focal epilepsy with midline spikes and wave during sleep MONDO C4749346 MONDO:0015641 17 Apr 2020 Disease Benign infantile seizures associated with mild gastroenteritis MONDO C4707564 MONDO:0015640 17 Apr 2020 Disease Benign insulitis MONDO MONDO:0005176 17 Apr 2020 Disease Benign intracranial hypertension C0033845 243200 16 Feb 2016 Disease Benign laryngeal neoplasm MONDO C0153952 MONDO:0002354 17 Apr 2020 Disease Benign Leydig cell tumor MONDO C0334409 MONDO:0036990 17 Apr 2020 Disease Benign lipomatous neoplasm MONDO C0346118 MONDO:0044983 17 Apr 2020 Disease Benign lymphoepithelial lesion of salivary gland MONDO C0266995 MONDO:0001598 17 Apr 2020 Disease Benign lymphoma 16 Feb 2016 Disease Benign male reproductive system neoplasm MONDO C0947786 MONDO:0000625 17 Apr 2020 Disease Benign mammary dysplasia MONDO C1305934 MONDO:0004808 17 Apr 2020 Disease Benign mastocytoma MONDO C2242987 MONDO:0021048 17 Apr 2020 Disease Benign mediastinal psammomatous neurilemmoma MONDO C1332513 MONDO:0004397 17 Apr 2020 Disease Benign melanocytic skin nevus MONDO C1456781 MONDO:0044794 17 Apr 2020 Disease Benign meningioma MONDO C0281784 MONDO:0003054 17 Apr 2020 Disease Benign mesenchymoma MONDO C0334491 MONDO:0002382 17 Apr 2020 Disease Benign mesonephroma MONDO C0334530 MONDO:0024889 17 Apr 2020 Disease Benign mesothelioma MONDO C0348424 MONDO:0002373 17 Apr 2020 Disease Benign metanephric tumour MONDO CN242075 MONDO:0018738 17 Apr 2020 Disease Benign metastasizing leiomyoma MONDO MONDO:0022560 17 Apr 2020 Disease Benign mixed tumor of the vulva MONDO C1511091 MONDO:0002199 17 Apr 2020 Disease Benign mucous membrane pemphigoid 16 Feb 2016 Disease Benign muscle neoplasm Human Phenotype Ontology C0027086 HP:0031460 04 Apr 2018 Finding Benign Neonatal Epilepsy C0270851 02 Dec 2016 Disease Benign neoplasm MONDO C0086692 MONDO:0005165 17 Apr 2020 Disease Benign neoplasm of adrenal gland MONDO C0154040 MONDO:0021511 17 Apr 2020 Disease Benign neoplasm of adrenal medulla MONDO C0686512 MONDO:0021468 17 Apr 2020 Disease Benign neoplasm of anus MONDO C0347276 MONDO:0021469 17 Apr 2020 Disease Benign neoplasm of appendix MONDO C0496860 MONDO:0021465 17 Apr 2020 Disease Benign neoplasm of brain NCBI curation C0496899 16 Feb 2016 Disease Benign neoplasm of brain stem MONDO C0686400 MONDO:0021507 17 Apr 2020 Disease Benign neoplasm of buccal mucosa MONDO C0345566 MONDO:0021524 17 Apr 2020 Disease Benign neoplasm of cauda equina MONDO C0686404 MONDO:0037739 17 Apr 2020 Disease Benign neoplasm of cecum MONDO C0496859 MONDO:0021464 17 Apr 2020 Disease Benign neoplasm of cerebellum MONDO MONDO:0021499 17 Apr 2020 Disease Benign neoplasm of cerebrum MONDO C0686378 MONDO:0021497 17 Apr 2020 Disease Benign neoplasm of chest wall MONDO C0684831 MONDO:0021529 17 Apr 2020 Disease Benign neoplasm of choroid MONDO C0154028 MONDO:0021487 17 Apr 2020 Disease Benign neoplasm of ciliary body MONDO C0496894 MONDO:0021486 17 Apr 2020 Disease Benign neoplasm of cornea MONDO C0154026 MONDO:0021452 17 Apr 2020 Disease Benign neoplasm of corpus uteri MONDO C0153998 MONDO:0021525 17 Apr 2020 Disease Benign neoplasm of ear MONDO C0347354 MONDO:0021474 17 Apr 2020 Disease Benign neoplasm of endocardium MONDO C0347254 MONDO:0021505 17 Apr 2020 Disease Benign neoplasm of endometrium MONDO C0686239 MONDO:0021471 17 Apr 2020 Disease Benign neoplasm of epicardium MONDO C0685115 MONDO:0021508 17 Apr 2020 Disease Benign neoplasm of epididymis MONDO C0154010 MONDO:0021473 17 Apr 2020 Disease Benign neoplasm of epiglottis MONDO C0347236 MONDO:0021446 17 Apr 2020 Disease Benign neoplasm of esophagus MONDO C0153942 MONDO:0021459 17 Apr 2020 Disease Benign neoplasm of ethmoidal sinus MONDO C0345670 MONDO:0021515 17 Apr 2020 Disease Benign neoplasm of exocrine pancreas MONDO C0347285 MONDO:0021441 17 Apr 2020 Disease Benign neoplasm of floor of mouth MONDO C0153934 MONDO:0021520 17 Apr 2020 Disease Benign neoplasm of frontal sinus MONDO C0345674 MONDO:0021483 17 Apr 2020 Disease Benign neoplasm of gallbladder MONDO C0345912 MONDO:0021503 17 Apr 2020 Disease Benign neoplasm of glottis MONDO C0347234 MONDO:0021516 17 Apr 2020 Disease Benign neoplasm of gum MONDO C0347201 MONDO:0021491 17 Apr 2020 Disease Benign neoplasm of hard palate MONDO C0345552 MONDO:0021518 17 Apr 2020 Disease Benign neoplasm of heart MONDO C0153957 MONDO:0021450 17 Apr 2020 Disease Benign neoplasm of hypopharynx MONDO C0153939 MONDO:0021461 17 Apr 2020 Disease Benign neoplasm of iris MONDO C0346374 MONDO:0021485 17 Apr 2020 Disease Benign neoplasm of lacrimal gland MONDO C0154024 MONDO:0021488 17 Apr 2020 Disease Benign neoplasm of large intestine MONDO C0347272 MONDO:0021444 17 Apr 2020 Disease Benign neoplasm of lip MONDO C0153932 MONDO:0021496 17 Apr 2020 Disease Benign neoplasm of lower jaw bone MONDO C0004994 MONDO:0021522 17 Apr 2020 Disease Benign neoplasm of lymph node MONDO C0154054 MONDO:0021443 17 Apr 2020 Disease Benign neoplasm of major salivary gland MONDO C0496858 MONDO:0021492 17 Apr 2020 Disease Benign neoplasm of male breast MONDO C0347482 MONDO:0021528 17 Apr 2020 Disease Benign neoplasm of maxillary sinus MONDO C0345666 MONDO:0021484 17 Apr 2020 Disease Benign neoplasm of mediastinum MONDO C0153956 MONDO:0021521 17 Apr 2020 Disease Benign neoplasm of meninges MONDO C0348426 MONDO:0021527 17 Apr 2020 Disease Benign neoplasm of middle ear MONDO C0347213 MONDO:0021482 17 Apr 2020 Disease Benign neoplasm of minor salivary gland MONDO C0345615 MONDO:0021493 17 Apr 2020 Disease Benign neoplasm of myocardium MONDO C0347253 MONDO:0021509 17 Apr 2020 Disease Benign neoplasm of nasal cavity MONDO C0347215 MONDO:0021475 17 Apr 2020 Disease Benign neoplasm of nasopharynx MONDO C0153938 MONDO:0021478 17 Apr 2020 Disease Benign neoplasm of neck MONDO C0684815 MONDO:0021455 17 Apr 2020 Disease Benign neoplasm of oral cavity MONDO C0347197 MONDO:0021445 17 Apr 2020 Disease Benign neoplasm of oropharynx MONDO C0347229 MONDO:0021479 17 Apr 2020 Disease Benign neoplasm of pancreas MONDO C0347284 MONDO:0021470 17 Apr 2020 Disease Benign neoplasm of parathyroid gland MONDO C0154041 MONDO:0021463 17 Apr 2020 Disease Benign neoplasm of parotid gland MONDO C0496857 MONDO:0021494 17 Apr 2020 Disease Benign neoplasm of penis MONDO C0149627 MONDO:0021458 17 Apr 2020 Disease Benign neoplasm of pericardium MONDO C0685118 MONDO:0021514 17 Apr 2020 Disease Benign neoplasm of peripheral nervous system MONDO MONDO:0056804 17 Apr 2020 Disease Benign neoplasm of pharynx MONDO C0153940 MONDO:0021523 17 Apr 2020 Disease Benign neoplasm of pituitary gland MONDO C0496901 MONDO:0021439 17 Apr 2020 Disease Benign neoplasm of placenta MONDO C0686274 MONDO:0021498 17 Apr 2020 Disease Benign neoplasm of pleura MONDO C0153955 MONDO:0021457 17 Apr 2020 Disease Benign neoplasm of prostate MONDO C0154009 MONDO:0021510 17 Apr 2020 Disease Benign neoplasm of rectum MONDO C0496867 MONDO:0021462 17 Apr 2020 Disease Benign neoplasm of renal pelvis MONDO C0154015 MONDO:0021467 17 Apr 2020 Disease Benign neoplasm of retina MONDO C0154027 MONDO:0021453 17 Apr 2020 Disease Benign neoplasm of salivary gland MONDO C0347206 MONDO:0021460 17 Apr 2020 Disease Benign neoplasm of scrotum MONDO C0154011 MONDO:0021472 17 Apr 2020 Disease Benign neoplasm of sebaceous gland MONDO C0684358 MONDO:0021490 17 Apr 2020 Disease Benign neoplasm of skin MONDO C0004998 MONDO:0021440 17 Apr 2020 Disease Benign neoplasm of small intestine MONDO C0153944 MONDO:0021501 17 Apr 2020 Disease Benign neoplasm of soft palate MONDO C0345557 MONDO:0021480 17 Apr 2020 Disease Benign neoplasm of sphenoidal sinus MONDO C0345678 MONDO:0021477 17 Apr 2020 Disease Benign neoplasm of spinal cord MONDO C0154034 MONDO:0021506 17 Apr 2020 Disease Benign neoplasm of spleen MONDO C0686615 MONDO:0021500 17 Apr 2020 Disease Benign neoplasm of sternum MONDO C0347312 MONDO:0021456 17 Apr 2020 Disease Benign neoplasm of stomach MONDO C0153943 MONDO:0021449 17 Apr 2020 Disease Benign neoplasm of subglottis MONDO C0345749 MONDO:0021530 17 Apr 2020 Disease Benign neoplasm of sublingual gland MONDO C0347208 MONDO:0021495 17 Apr 2020 Disease Benign neoplasm of submandibular gland MONDO C0685988 MONDO:0021481 17 Apr 2020 Disease Benign neoplasm of sweat gland MONDO C0684354 MONDO:0021489 17 Apr 2020 Disease Benign neoplasm of testis MONDO C0154007 MONDO:0021447 17 Apr 2020 Disease Benign neoplasm of the central nervous system Human Phenotype Ontology C0347509 HP:0100835 16 Feb 2016 Finding Benign neoplasm of thymus MONDO C0345975 MONDO:0021512 17 Apr 2020 Disease Benign neoplasm of tongue MONDO C0153933 MONDO:0021476 17 Apr 2020 Disease Benign neoplasm of tonsil MONDO C0153936 MONDO:0021513 17 Apr 2020 Disease Benign neoplasm of trachea MONDO C0153953 MONDO:0021517 17 Apr 2020 Disease Benign non-familial infantile seizures MONDO CN226716 MONDO:0015637 17 Apr 2020 Disease Benign occipital epilepsy MONDO C1851549 MONDO:0007558 132090 22 Apr 2020 Disease Benign osteogenic neoplasm MONDO C1332523 MONDO:0045052 17 Apr 2020 Disease Benign ovarian mucinous tumor MONDO C1511100 MONDO:0036915 17 Apr 2020 Disease Benign ovarian sex cord-stromal tumor MONDO C1332528 MONDO:0024387 17 Apr 2020 Disease Benign paroxysmal positional vertigo C0155502 193007 16 Feb 2016 Disease Benign paroxysmal torticollis of infancy MONDO C3494934 MONDO:0019113 17 Apr 2020 Disease Benign partial epilepsy of infancy with complex partial seizures MONDO C4749347 MONDO:0015638 17 Apr 2020 Disease Benign partial epilepsy with secondarily generalized seizures in infancy MONDO C4749728 MONDO:0015639 17 Apr 2020 Disease Benign partial infantile seizures MONDO CN261233 MONDO:0015642 17 Apr 2020 Disease Benign PEComa MONDO C3839685 MONDO:0020581 17 Apr 2020 Disease Benign peripheral nerve granular cell tumor MONDO C1332530 MONDO:0056805 17 Apr 2020 Disease Benign peripheral nerve sheath tumor MONDO CN202000 MONDO:0016752 17 Apr 2020 Disease Benign peritoneal mesothelioma MONDO MONDO:0002112 17 Apr 2020 Disease Benign perivascular tumor MONDO C1332532 MONDO:0003342 17 Apr 2020 Disease Benign phyllodes tumor MONDO C0334501 MONDO:0037002 17 Apr 2020 Disease Benign prostate phyllodes tumor MONDO C1332535 MONDO:0002451 17 Apr 2020 Disease Benign prostatic hyperplasia Human Phenotype Ontology C1704272 HP:0008711 600082 16 Feb 2016 Disease Benign recurrent intrahepatic cholestasis NCBI curation C0149841 01 Feb 2020 Disease Benign recurrent intrahepatic cholestasis type 2 MONDO C2608083 MONDO:0011559 605479 22 Apr 2020 Disease Benign renovascular hypertension MONDO MONDO:0001647 17 Apr 2020 Disease Benign reproductive system neoplasm MONDO C1332536 MONDO:0000383 17 Apr 2020 Disease Benign Rolandic epilepsy C2363129 117100 16 Feb 2016 Disease benign rolandic epilepsy with centro-temporal spikes 05 Sep 2019 Finding Benign Samaritan congenital myopathy MONDO C4749502 MONDO:0017936 17 Apr 2020 Disease Benign secondary hypertension MONDO C0155620 MONDO:0001646 17 Apr 2020 Disease Benign shuddering attacks MONDO C0375200 MONDO:0002085 17 Apr 2020 Disease Benign smooth muscle neoplasm MONDO C1332539 MONDO:0006106 17 Apr 2020 Disease Benign soft tissue neoplasm MONDO C0334450 MONDO:0044335 17 Apr 2020 Disease Benign Soft Tissue Neoplasm of Uncertain Differentiation NCBI curation C1332517 02 Mar 2017 Disease Benign spiradenoma MONDO C0334347 MONDO:0003448 17 Apr 2020 Disease Benign struma ovarii MONDO C1511104 MONDO:0003333 17 Apr 2020 Disease Benign synovial neoplasm MONDO C0221289 MONDO:0024715 17 Apr 2020 Disease Benign thyroid gland neoplasm MONDO C0154038 MONDO:0006107 17 Apr 2020 Disease Benign tumor of palpebral epidermis MONDO MONDO:0020173 17 Apr 2020 Disease Benign urethral neoplasm MONDO C0154019 MONDO:0004177 17 Apr 2020 Disease Benign urinary system neoplasm MONDO C0686167 MONDO:0004180 17 Apr 2020 Disease Benign uterine ligament neoplasm MONDO C0865093 MONDO:0020582 17 Apr 2020 Disease Benign vaginal mixed epithelial and mesenchymal neoplasm MONDO C1511106 MONDO:0001731 17 Apr 2020 Disease Benign vaginal mixed tumor MONDO C1511107 MONDO:0003903 17 Apr 2020 Disease Benign vaginal neoplasm MONDO C0154002 MONDO:0000647 17 Apr 2020 Disease Bent bone dysplasia MONDO C0432238 MONDO:0019698 17 Apr 2020 Disease Bent bone dysplasia syndrome NCBI curation C3281247 614592 16 Feb 2016 Disease Benzene toxicity, susceptibility to NCBI curation C2675718 16 Feb 2016 Disease Berardinelli-Seip congenital lipodystrophy CN262437 15 Oct 2019 Disease Berger disease C0017661 16 Feb 2016 Disease Beriberi 16 Feb 2016 Disease Berk-Tabatznik syndrome C2930899 16 Feb 2016 Disease Bernard Soulier syndrome NCBI curation C0005129 231200 16 Feb 2016 Disease Bernard-Soulier syndrome type C NCBI curation C1856448 16 Feb 2016 Disease Bernard-Soulier syndrome, type A NCBI curation C3502215 16 Feb 2016 Disease Bernard-Soulier syndrome, type A1 NCBI curation C3278148 16 Feb 2016 Disease Bernard-Soulier syndrome, type A1 (recessive) CN258967 12 Jun 2019 Disease Bernard-Soulier syndrome, type A2, autosomal dominant NCBI curation C3277076 153670 16 Feb 2016 Disease Bernard-Soulier syndrome, type B NCBI curation C1856447 16 Feb 2016 Disease Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification C1859519 210050 16 Feb 2016 Disease Berylliosis 16 Feb 2016 Disease Beryllium disease, chronic, susceptibility to NCBI curation 16 Feb 2016 Disease Best corrected visual acuity 0.1 LogMAR Human Phenotype Ontology C4073027 HP:0030554 16 Feb 2016 Finding Best corrected visual acuity 0.2 LogMAR Human Phenotype Ontology C4073028 HP:0030555 16 Feb 2016 Finding Best corrected visual acuity 0.3 LogMAR Human Phenotype Ontology C4073029 HP:0030556 16 Feb 2016 Finding Best corrected visual acuity 0.4 LogMAR Human Phenotype Ontology C4073030 HP:0030557 16 Feb 2016 Finding Best corrected visual acuity 0.5 LogMAR Human Phenotype Ontology C4073031 HP:0030558 16 Feb 2016 Finding Best corrected visual acuity 0.6 LogMAR Human Phenotype Ontology C4073033 HP:0030560 16 Feb 2016 Finding Best corrected visual acuity 0.7 LogMAR Human Phenotype Ontology C4073032 HP:0030559 16 Feb 2016 Finding Best corrected visual acuity 0.8 LogMAR Human Phenotype Ontology C4073034 HP:0030561 16 Feb 2016 Finding Best corrected visual acuity 0.9 LogMAR Human Phenotype Ontology C4073035 HP:0030562 16 Feb 2016 Finding Best corrected visual acuity 1.0 LogMAR Human Phenotype Ontology C4073036 HP:0030563 16 Feb 2016 Finding Best corrected visual acuity 1.1 LogMAR Human Phenotype Ontology C4073037 HP:0030564 16 Feb 2016 Finding Best corrected visual acuity 1.2 LogMAR Human Phenotype Ontology C4073038 HP:0030565 16 Feb 2016 Finding Best corrected visual acuity 1.3 LogMAR Human Phenotype Ontology C4073039 HP:0030566 16 Feb 2016 Finding Best corrected visual acuity 2.0 LogMAR Human Phenotype Ontology C4073040 HP:0030567 16 Feb 2016 Finding Best corrected visual acuity 3.0 LogMAR Human Phenotype Ontology C4073041 HP:0030568 16 Feb 2016 Finding Best1 retinopathy 16 Feb 2016 Disease BEST1-Related Disorders CN239200 02 Dec 2016 Disease Bestiality MONDO C0152186 MONDO:0004759 17 Apr 2020 Disease Bestrophinopathy, autosomal recessive NCBI curation C3888198 611809 16 Feb 2016 Disease Beta 2-microglobulinuria Human Phenotype Ontology C4476798 HP:0025466 04 Apr 2018 Finding beta Thalassemia NCBI curation C0005283 613985 16 Feb 2016 Disease Beta thalassemia intermedia NCBI curation C0472767 16 Feb 2016 Disease Beta thalassemia major NCBI curation C0002875 16 Feb 2016 Disease Beta thalassemia minor NCBI curation C0869532 16 Feb 2016 Disease Beta-2-adrenoreceptor agonist, reduced response to NCBI curation C1862282 16 Feb 2016 Disease Beta-A-mannosidosis CN186215 16 Feb 2016 Disease Beta-adrenergic stimulation, response to NCBI curation C1862288 109670 16 Feb 2016 Disease Beta-amino acids, renal transport of NCBI curation C1862289 109660 16 Feb 2016 Disease Beta-aminoisobutyric aciduria NCBI curation C1859518 210100 20 Jun 2017 Disease Beta-blockers CN231744 16 Feb 2016 Disease Beta-cell dysfunction Human Phenotype Ontology C1969875 HP:0006279 16 Feb 2016 Finding Beta-D-mannosidosis C4048196 248510 16 Feb 2016 Disease Beta-EEG Human Phenotype Ontology C4023493 HP:0011179 16 Feb 2016 Finding BETA-GLUCOPYRANOSIDE TASTING OMIM C4693750 617956 617956 04 May 2018 Disease BETA-GLYCEROL PHOSPHATASE OMIM CN263251 109640 109640 08 Feb 2020 Disease Beta-glycopyranoside tasting NCBI curation CN068900 16 Feb 2016 Finding Beta-hexosaminidase a, pseudodeficiency of NCBI curation CN068777 16 Feb 2016 Disease Beta-Houston-thalassemia NCBI curation 16 Feb 2016 Disease Beta-hydroxyisobutyryl-CoA deacylase deficiency NCBI curation C0342738 250620 16 Feb 2016 Disease Beta-knossos-thalassemia NCBI curation C4017494 16 Feb 2016 Disease Beta-lactam allergy MONDO MONDO:0000794 17 Apr 2020 Disease Beta-malay-thalassemia NCBI curation C4017510 16 Feb 2016 Disease Beta-plus-thalassemia NCBI curation C3841475 16 Feb 2016 Disease Beta-plus-thalassemia, dominant NCBI curation C4017525 22 Jun 2016 Disease Beta-propeller protein-associated neurodegeneration NCBI curation CN168656 16 Feb 2016 Disease Beta-showa-yakushiji thalassemia NCBI curation C4017522 16 Feb 2016 Disease Beta-thalassemia and related diseases MONDO CN202571 MONDO:0017145 17 Apr 2020 Disease Beta-thalassemia associated with another hemoglobin anomaly MONDO CN226942 MONDO:0016488 17 Apr 2020 Disease Beta-thalassemia dominant NCBI curation C4274391 16 Feb 2016 Disease Beta-thalassemia intermedia, dominant NCBI curation 16 Feb 2016 Disease Beta-thalassemia with other manifestations MONDO CN261234 MONDO:0016492 17 Apr 2020 Disease Beta-thalassemia, Ashkenazi Jewish type NCBI curation 16 Feb 2016 Disease Beta-thalassemia, dominant inclusion body type NCBI curation C1858990 603902 16 Feb 2016 Disease Beta-thalassemia, lermontov type NCBI curation C4017528 16 Feb 2016 Disease beta^0^ Thalassemia NCBI curation C0271980 16 Feb 2016 Disease Bethlem myopathy OMIM phenotypic series C1834674 PS158810 04 Dec 2016 Disease Bethlem myopathy 1 NCBI curation CN029274 158810 04 Dec 2016 Disease BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE 16 Feb 2016 Disease Bethlem myopathy 2 NCBI curation C4225313 616471 16 Feb 2016 Disease Bethlem sign Human Phenotype Ontology C4021042 HP:0030233 16 Feb 2016 Finding Beukes hip dysplasia NCBI curation C1840572 142669 02 Apr 2018 Disease BF*FA/S 16 Feb 2016 Named protein variant BH4-Deficient Hyperphenylalaninemia CN239229 02 Dec 2016 Disease BH4-deficient hyperphenylalaninemia A MONDO C0878676 MONDO:0009863 261640 22 Apr 2020 Disease Bhaskar Jagannathan syndrome C2930901 16 Feb 2016 Disease Bicarbonate-wasting renal tubular acidosis Human Phenotype Ontology C1858626 HP:0004910 16 Feb 2016 Finding Bicarbonaturia Human Phenotype Ontology C1839865 HP:0003646 16 Feb 2016 Finding Biceps aplasia Human Phenotype Ontology C3805764 HP:0009783 16 Feb 2016 Finding Biceps hypoplasia Human Phenotype Ontology C1862499 HP:0009007 04 Apr 2018 Finding Bicervical bicornuate uterus and blind hemivagina MONDO CN200445 MONDO:0015835 17 Apr 2020 Disease Bicervical bicornuate uterus with patent cervix and vagina MONDO CN200446 MONDO:0015836 17 Apr 2020 Disease Bicipital tenosynovitis MONDO C0158304 MONDO:0001905 17 Apr 2020 Disease Bickerstaff brainstem encephalitis MONDO C1960543 MONDO:0019208 04 Jun 2020 Infectious disease Biconcave flattened vertebrae Human Phenotype Ontology C1833753 HP:0003321 16 Feb 2016 Finding Biconcave vertebral bodies Human Phenotype Ontology C1856087 HP:0004586 16 Feb 2016 Finding Biconvex vertebral bodies Human Phenotype Ontology C1866675 HP:0004625 16 Feb 2016 Finding Bicornuate uterus Human Phenotype Ontology C0266387 HP:0000813 16 Feb 2016 Finding Bicoronal synostosis Human Phenotype Ontology C4021164 HP:0011318 16 Feb 2016 Finding Bicuspid aortic valve Human Phenotype Ontology C0149630 HP:0001647 16 Feb 2016 Disease Bicuspid aortic valve with left-noncoronary cusp fusion Human Phenotype Ontology C4476981 HP:0031121 04 Apr 2018 Finding Bicuspid aortic valve with right-left cusp fusion Human Phenotype Ontology C4476979 HP:0031119 04 Apr 2018 Finding Bicuspid aortic valve with right-noncoronary cusp fusion Human Phenotype Ontology C4476980 HP:0031120 04 Apr 2018 Finding Bicuspid pulmonary valve Human Phenotype Ontology C0344987 HP:0005182 16 Feb 2016 Finding Bidirectional shunt Human Phenotype Ontology C0428872 HP:0012383 16 Feb 2016 Finding Bidirectional tachycardia C2930902 16 Feb 2016 Disease Bidirectional ventricular ectopy Human Phenotype Ontology C1969410 HP:0005147 16 Feb 2016 Finding BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome C3495483 16 Feb 2016 Disease Biemond syndrome 16 Feb 2016 Disease Biemond syndrome II NCBI curation C1859487 210350 26 May 2016 Disease Biemond syndrome type 1 16 Feb 2016 Disease Biermer disease 16 Feb 2016 Disease Bietti crystalline corneoretinal dystrophy C1859486 210370 16 Feb 2016 Disease Bifid antitragus Human Phenotype Ontology C4021187 HP:0011250 16 Feb 2016 Finding Bifid clitoris Human Phenotype Ontology C1389795 HP:0030911 02 Apr 2017 Finding Bifid distal phalanx of the thumb Human Phenotype Ontology CN008473 HP:0009611 16 Feb 2016 Finding Bifid distal phalanx of toe Human Phenotype Ontology C4021772 HP:0001853 16 Feb 2016 Finding Bifid epiglottis Human Phenotype Ontology C0339864 HP:0010564 16 Feb 2016 Finding Bifid femur Human Phenotype Ontology C4023824 HP:0010443 16 Feb 2016 Finding Bifid first metacarpal Human Phenotype Ontology C4021423 HP:0009616 16 Feb 2016 Finding Bifid humerus Human Phenotype Ontology C4025545 HP:0003864 16 Feb 2016 Finding Bifid nail Human Phenotype Ontology C0544857 HP:0010793 16 Feb 2016 Finding Bifid nasal tip Human Phenotype Ontology C0426428 HP:0000456 16 Feb 2016 Finding Bifid nose C0221363 16 Feb 2016 Disease Bifid nose, autosomal dominant NCBI curation C2751431 109740 16 Feb 2016 Disease Bifid penis Human Phenotype Ontology C0345322 HP:0100599 16 Feb 2016 Disease Bifid proximal phalanx of the thumb Human Phenotype Ontology C4024272 HP:0009614 16 Feb 2016 Finding Bifid ribs Human Phenotype Ontology C4721788 HP:0000892 16 Feb 2016 Finding Bifid sacrum Human Phenotype Ontology C4024204 HP:0009791 16 Feb 2016 Finding Bifid scrotum Human Phenotype Ontology C0341787 HP:0000048 16 Feb 2016 Finding Bifid sternum Human Phenotype Ontology C0265696 HP:0010309 16 Feb 2016 Finding Bifid thoracic vertebrae Human Phenotype Ontology C2751478 HP:0008437 16 Feb 2016 Finding Bifid thumb distal phalanx Human Phenotype Ontology C1860162 HP:0005848 16 Feb 2016 Finding Bifid tongue Human Phenotype Ontology C0266111 HP:0010297 16 Feb 2016 Finding Bifid tragus Human Phenotype Ontology C4021173 HP:0011269 16 Feb 2016 Finding Bifid ureter Human Phenotype Ontology C3887498 HP:0030037 16 Feb 2016 Finding Bifid uterus Human Phenotype Ontology C1850327 HP:0000136 16 Feb 2016 Finding Bifid xiphoid process Human Phenotype Ontology C4020943 HP:0100891 16 Feb 2016 Finding Bifidobacteriales infectious disease MONDO C1136339 MONDO:0006706 04 Jun 2020 Infectious disease bifrontal narrowing 22 Aug 2019 Finding Bifunctional peroxisomal enzyme deficiency C0342870 261515 16 Feb 2016 Disease big ears 22 Aug 2019 Finding Bilambdoid synostosis Human Phenotype Ontology C4021163 HP:0011319 16 Feb 2016 Finding bilateral 18 Jan 2019 Finding bilateral 5th finger clinodactyly 22 Aug 2019 Finding Bilateral absent radius 03 Mar 2020 Finding Bilateral absent thumbs 03 Mar 2020 Finding Bilateral acute depigmentation of the iris MONDO CN205564 MONDO:0019074 17 Apr 2020 Disease Bilateral alveolar cleft of maxilla Human Phenotype Ontology C4477071 HP:0410034 04 Apr 2018 Finding bilateral amblyopia 05 Sep 2019 Disease bilateral arthritis 13 Feb 2020 Finding bilateral basal ganglia involvement characteristic of Leigh disease CN230264 16 Feb 2016 Finding Bilateral basal ganglia lesions Human Phenotype Ontology C4024932 HP:0007146 16 Feb 2016 Finding Bilateral basilar pulmonary fibrosis Human Phenotype Ontology C0339904 HP:0550005 04 Apr 2018 Finding bilateral blue iris 31 Dec 2019 Finding bilateral breast cancer CN235586 19 Mar 2016 Finding Bilateral Breast Carcinoma C0281267 16 Feb 2016 Disease Bilateral breast hypoplasia Human Phenotype Ontology C4022716 HP:0012814 16 Feb 2016 Finding Bilateral camptodactyly Human Phenotype Ontology C4021830 HP:0005617 16 Feb 2016 Finding bilateral cancer CN235587 19 Mar 2016 Finding Bilateral choanal atresia Human Phenotype Ontology C4025317 HP:0004502 16 Feb 2016 Finding Bilateral choanal atresia/stenosis Human Phenotype Ontology C4021884 HP:0200138 16 Feb 2016 Finding Bilateral cleft lip Human Phenotype Ontology C0392005 HP:0100336 16 Feb 2016 Finding Bilateral cleft lip and palate Human Phenotype Ontology C1398522 HP:0002744 16 Feb 2016 Disease Bilateral cleft palate Human Phenotype Ontology C3553084 HP:0100337 16 Feb 2016 Finding Bilateral clinodactyly 23 Feb 2018 Finding bilateral clinodactyly finger 22 Aug 2019 Finding Bilateral Club Feet 18 Jan 2019 Finding bilateral coloboma of the lens 05 Sep 2018 Finding bilateral complete chorioretinal coloboma 22 Aug 2019 Finding Bilateral conductive hearing impairment Human Phenotype Ontology C0452136 HP:0008513 16 Feb 2016 Finding bilateral congenital hip dysplasia 05 Sep 2018 Finding Bilateral congenital mydriasis Human Phenotype Ontology C4024770 HP:0007932 16 Feb 2016 Finding Bilateral coxa valga Human Phenotype Ontology C3810018 HP:0010665 16 Feb 2016 Finding Bilateral cryptorchidism Human Phenotype Ontology C0431663 HP:0008689 16 Feb 2016 Finding bilateral deafness 05 Sep 2019 Finding Bilateral ductus arteriosus Human Phenotype Ontology C0431501 HP:0011650 16 Feb 2016 Finding Bilateral ear tags 03 Mar 2020 Finding bilateral edema lower extremity 05 Sep 2019 Finding Bilateral elbow dislocations Human Phenotype Ontology C3278429 HP:0005021 16 Feb 2016 Finding bilateral epicanthus 22 Aug 2019 Finding Bilateral esotropia 24 Nov 2017 Finding Bilateral external ear deformity Human Phenotype Ontology C4022432 HP:0040111 16 Feb 2016 Finding Bilateral facial palsy Human Phenotype Ontology C4073207 HP:0430025 16 Feb 2016 Finding Bilateral fetal pyelectasis Human Phenotype Ontology C4023523 HP:0011129 16 Feb 2016 Finding Bilateral frontal polymicrogyria MONDO CN200916 MONDO:0016162 17 Apr 2020 Disease bilateral hallux valgus 05 Sep 2018 Finding Bilateral hearing loss C0018775 16 Feb 2016 Finding bilateral hindfoot deformity 05 Sep 2018 Finding bilateral hip dysplasia CN186923 16 Feb 2016 Finding bilateral hydronephrosis C0521622 19 Oct 2016 Finding Bilateral hyperactive labyrinth MONDO C0155516 MONDO:0001897 17 Apr 2020 Disease bilateral hypermetropia C2881341 19 Oct 2016 Finding bilateral hyperopia 18 Jan 2019 Finding Bilateral hypoactive labyrinth MONDO C0155518 MONDO:0003567 17 Apr 2020 Disease bilateral inguinal hernia 05 Sep 2019 Disease Bilateral intracranial calcifications Human Phenotype Ontology C4025159 HP:0005671 16 Feb 2016 Finding bilateral invasive ductal carcinoma, luminal A 08 May 2020 Finding Bilateral lesions of basal ganglia CN239810 30 Dec 2016 Disease Bilateral leukocoria C2881131 16 Feb 2016 Finding Bilateral lung agenesis Human Phenotype Ontology C4021610 HP:0005944 16 Feb 2016 Finding Bilateral massive adrenal hemorrhage MONDO CN203920 MONDO:0017871 17 Apr 2020 Disease Bilateral meningioma of optic nerve MONDO C1332551 MONDO:0003859 17 Apr 2020 Disease bilateral microphathlmia CN238720 19 Oct 2016 Finding Bilateral microphthalmos Human Phenotype Ontology C1843496 HP:0007633 16 Feb 2016 Finding Bilateral multicystic dysplastic kidney CN235503 12 Mar 2016 Finding Bilateral multifocal epileptiform discharges Human Phenotype Ontology C4023485 HP:0011189 16 Feb 2016 Finding Bilateral muticystic renal dysplasia 22 Jun 2020 Finding bilateral myopia (0.75 diopters) 05 Sep 2018 Finding bilateral myopia (1 diopter) 05 Sep 2018 Finding bilateral myopia (2,5 diopters) 05 Sep 2018 Finding bilateral nystagmus 05 Sep 2019 Finding bilateral optic atrophy CN232325 16 Feb 2016 Finding bilateral optic disc gliosis 24 Jun 2020 Disease bilateral palpebral ptosis 22 Aug 2019 Finding Bilateral peripheral avascular retina CN232376 16 Feb 2016 Finding bilateral pleural effusion C0747635 18 Jan 2019 Finding Bilateral polymicrogyria MONDO C4707565 MONDO:0017091 17 Apr 2020 Disease bilateral post axial polydactyly of the hands CN238484 13 Sep 2016 Finding Bilateral postaxial polydactyly Human Phenotype Ontology C1855003 HP:0006136 16 Feb 2016 Finding bilateral postaxial polydactyly of hands 22 Oct 2019 Finding bilateral preaxial polydactyly of the feet CN238485 13 Sep 2016 Finding Bilateral ptosis Human Phenotype Ontology C1865916 HP:0001488 16 Feb 2016 Finding Bilateral pyramidal syndrome 30 Apr 2019 Finding Bilateral radial aplasia Human Phenotype Ontology C1848840 HP:0004977 16 Feb 2016 Finding Bilateral radial artery occlusion 25 Oct 2017 Finding bilateral radial hypoplasia with associated thumb and wrist anomaly 10 Jun 2020 Finding bilateral renal agenesis 08 Apr 2020 Finding Bilateral renal agenesis Human Phenotype Ontology C1609433 HP:0010958 16 Feb 2016 Finding Bilateral renal agenesis dominant type 16 Feb 2016 Disease Bilateral renal atrophy Human Phenotype Ontology C4022835 HP:0012586 16 Feb 2016 Finding Bilateral renal dysplasia Human Phenotype Ontology C0431698 HP:0012582 16 Feb 2016 Finding Bilateral renal hypoplasia Human Phenotype Ontology C0431692 HP:0012584 16 Feb 2016 Finding Bilateral renal pelvietasis 24 Nov 2017 Finding Bilateral renal pyelectasis 24 Nov 2017 Finding bilateral retinoblastoma C0854914 18 Jan 2019 Finding Bilateral right-sidedness sequence C0175707 208530 16 Feb 2016 Disease Bilateral sensorineural hearing impairment Human Phenotype Ontology C0452138 HP:0008619 16 Feb 2016 Finding Bilateral simian crease 23 Feb 2018 Finding Bilateral single transverse palmar creases Human Phenotype Ontology C1862095 HP:0007598 16 Feb 2016 Finding Bilateral split hand and split foot malformation CN232369 16 Feb 2016 Finding Bilateral squint CN228276 16 Feb 2016 Finding bilateral striatal necrosis C4013993 16 Feb 2016 Finding Bilateral superior vena cava with bridging vein Human Phenotype Ontology C4023240 HP:0011667 16 Feb 2016 Finding Bilateral superior vena cava with no bridging vein Human Phenotype Ontology C4023239 HP:0011668 16 Feb 2016 Finding bilateral superposition of the 2nd on first toe 22 Aug 2019 Finding Bilateral talipes equinovarus Human Phenotype Ontology C1837835 HP:0001776 16 Feb 2016 Finding Bilateral talipus equinovarus CN235174 16 Feb 2016 Finding Bilateral trilobed lungs Human Phenotype Ontology C3164377 HP:0011861 16 Feb 2016 Finding Bilateral triphalangeal thumbs Human Phenotype Ontology C4021627 HP:0005707 16 Feb 2016 Finding Bilateral ulnar hypoplasia Human Phenotype Ontology C4025166 HP:0005648 16 Feb 2016 Finding Bilateral undescended testes 28 Jun 2019 Finding Bilateral undescended testicles CN228277 16 Feb 2016 Finding bilateral unilateral hearing loss 05 Sep 2019 Finding Bilateral vertebral artery hypoplasia Human Phenotype Ontology C4022511 HP:0030324 16 Feb 2016 Finding Bilateral vestibular Schwannoma Human Phenotype Ontology C1136042 HP:0009589 16 Feb 2016 Finding Bilateral vocal cord paralysis Human Phenotype Ontology C2146481 HP:0012820 16 Feb 2016 Finding Bilateral vocal cord paresis Human Phenotype Ontology C0751574 HP:0012822 16 Feb 2016 Finding Bilateral VUR CN235504 12 Mar 2016 Finding Bilateral VUR with possible duplicated collecting system CN235499 12 Mar 2016 Finding bilateral wide toes 22 Aug 2019 Finding Bilateral wrist flexion contracture Human Phenotype Ontology C4022899 HP:0012453 16 Feb 2016 Finding Bilateral, progressive nonsyndromic sensorineural hearing loss CN231094 16 Feb 2016 Finding Bile acid CoA ligase deficiency and defective amidation MONDO C4274079 MONDO:0017165 17 Apr 2020 Disease Bile acid malabsorption, primary NCBI curation C2750087 613291 16 Feb 2016 Disease Bile acid synthesis defect with cholestasis and malabsorption MONDO CN226707 MONDO:0015581 17 Apr 2020 Disease Bile acid synthesis defect, congenital, 3 NCBI curation C3151147 613812 16 Feb 2016 Disease Bile acid synthesis defect, congenital, 5 NCBI curation C4225390 616278 16 Feb 2016 Disease Bile acid synthesis defect, congenital, 6 NCBI curation C4310624 617308 20 Jun 2017 Disease Bile and pancreatic ducts, complete absence of NCBI curation C1842614 608063 16 Feb 2016 Disease Bile duct adenocarcinoma MONDO C1370800 MONDO:0003193 17 Apr 2020 Disease Bile duct adenoma MONDO C0008309 MONDO:0006108 17 Apr 2020 Disease Bile duct cancer 16 Feb 2016 Disease Bile duct carcinoma MONDO C0740277 MONDO:0005496 17 Apr 2020 Disease Bile duct carcinoma in situ MONDO MONDO:0000374 17 Apr 2020 Disease Bile duct cystadenoma MONDO C0334285 MONDO:0003420 17 Apr 2020 Disease Bile duct disease MONDO C0005395 MONDO:0002887 17 Apr 2020 Disease Bile duct mucinous cystic neoplasm with an associated invasive carcinoma MONDO C0334286 MONDO:0002868 17 Apr 2020 Disease Bile duct neoplasm MONDO C0005396 MONDO:0021662 17 Apr 2020 Disease Bile duct papillary neoplasm MONDO C1879344 MONDO:0003455 17 Apr 2020 Disease Bile duct proliferation Human Phenotype Ontology C0267818 HP:0001408 16 Feb 2016 Finding Bile duct sarcoma MONDO MONDO:0002862 17 Apr 2020 Disease Bile reflux MONDO C0005403 MONDO:0006677 17 Apr 2020 Disease Biliary atresia Human Phenotype Ontology C0005411 HP:0005912 16 Feb 2016 Disease Biliary atresia disorder MONDO CN258461 MONDO:0028737 17 Apr 2020 Disease Biliary atresia intrahepatic non syndromic form 16 Feb 2016 Disease Biliary atresia intrahepatic syndromic form 16 Feb 2016 Disease Biliary atresia with splenic malformation syndrome MONDO C4274029 MONDO:0016577 17 Apr 2020 Disease Biliary cirrhosis Human Phenotype Ontology C0023892 HP:0002613 16 Feb 2016 Finding Biliary cirrhosis, primary, 2 NCBI curation C2751696 613007 16 Feb 2016 Disease Biliary cirrhosis, primary, 3 NCBI curation C2751695 613008 16 Feb 2016 Disease Biliary cirrhosis, primary, 4 NCBI curation C3280201 614220 16 Feb 2016 Disease Biliary cirrhosis, primary, 5 NCBI curation C3280202 614221 16 Feb 2016 Disease Biliary cystadenocarcinoma MONDO C2064409 MONDO:0018535 10 May 2020 Disease Biliary dyskinesia Human Phenotype Ontology C0005416 HP:0012396 16 Feb 2016 Finding Biliary epithelial hyperplasia Human Phenotype Ontology C4476896 HP:0030986 04 Apr 2018 Finding Biliary hyperplasia Human Phenotype Ontology C3686778 HP:0006560 16 Feb 2016 Finding Biliary hypoplasia 16 Feb 2016 Disease Biliary malformation associated with renal tubular insufficiency C0400972 210550 16 Feb 2016 Disease Biliary tract abnormality Human Phenotype Ontology C0549613 HP:0001080 16 Feb 2016 Finding Biliary tract cancer 16 Feb 2016 Disease Biliary tract neoplasm Human Phenotype Ontology C0005426 HP:0100574 16 Feb 2016 Finding Biliary tract obstruction Human Phenotype Ontology C0400979 HP:0005230 16 Feb 2016 Finding Bilineage myelodysplasia Human Phenotype Ontology C4023020 HP:0012149 16 Feb 2016 Finding Bilirubin induced brain injury in the newborn 16 Feb 2016 Disease Bilirubin metabolism disease MONDO MONDO:0024431 17 Apr 2020 Disease Bilirubin, serum level of, quantitative trait locus 1 NCBI curation C1866173 601816 16 Feb 2016 Disease Billet Bear syndrome 16 Feb 2016 Disease Bilobate gallbladder Human Phenotype Ontology C1846422 HP:0005608 16 Feb 2016 Finding Bimanual synkinesia Human Phenotype Ontology C0454455 HP:0001335 16 Feb 2016 Finding Binasal hemianopia Human Phenotype Ontology C0271208 HP:0030520 16 Feb 2016 Finding Binder syndrome MONDO C0220692 MONDO:0007953 155050 17 Apr 2020 Disease binge eating disorder 05 Sep 2019 Finding Binocular vision disease MONDO MONDO:0001564 17 Apr 2020 Disease Biological anomaly without phenotypic characterization MONDO CN237710 MONDO:0018652 17 Apr 2020 Disease Biotin metabolic disease MONDO MONDO:0020699 17 Apr 2020 Disease Biotin-responsive basal ganglia disease MONDO C1843807 MONDO:0011841 607483 09 May 2020 Disease Biotin-Responsive Multiple Carboxylase Deficiencies CN043572 16 Feb 2016 Disease biotindase deficiency 05 Sep 2019 Finding Biotinidase deficiency NCBI curation C0220754 253260 16 Feb 2016 Disease BIPARENTAL MITOCHONDRIAL DNA TRANSMISSION OMIM C4748854 618256 618256 15 Dec 2018 Disease Biparietal narrowing Human Phenotype Ontology C1854418 HP:0004422 16 Feb 2016 Finding Bipartite calcaneus Human Phenotype Ontology C1835574 HP:0008127 16 Feb 2016 Finding Bipartite patella Human Phenotype Ontology C0265666 HP:0010498 16 Feb 2016 Finding Bipartite talus MONDO C4706298 MONDO:0018228 17 Apr 2020 Disease Biphasic synovial sarcoma MONDO C0334507 MONDO:0003468 17 Apr 2020 Disease Biphenotypic acute leukaemia Human Phenotype Ontology C0023464 HP:0005531 16 Feb 2016 Finding Bipolar CN244029 01 Jun 2017 Finding Bipolar affective disorder Human Phenotype Ontology C0005586 HP:0007302 16 Feb 2016 Finding Bipolar affective disorder, susceptibility to NCBI curation 16 Feb 2016 Disease Bipolar depression MONDO MONDO:0024613 17 Apr 2020 Disease Bipolar disorder 06 Sep 2019 Finding Bipolar I disorder MONDO C0853193 MONDO:0001866 17 Apr 2020 Disease Bipolar II disorder MONDO C0236788 MONDO:0000693 17 Apr 2020 Disease bipolar type 18 Jan 2019 Finding Birbeck granule deficiency NCBI curation C3150657 613393 16 Feb 2016 Disease Bird disease MONDO C0005591 MONDO:0024905 17 Apr 2020 Disease Bird fancier's lung MONDO C0005592 MONDO:0005668 17 Apr 2020 Disease Bird headed-dwarfism, Montreal type MONDO C1859468 MONDO:0008870 210700 22 Apr 2020 Disease Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency C0342284 210740 16 Feb 2016 Disease Bird-like facies Human Phenotype Ontology C1837758 HP:0000320 16 Feb 2016 Finding Birdshot chorioretinopathy C1853959 605808 16 Feb 2016 Disease Birdshot choroidal lesions Human Phenotype Ontology C4476871 HP:0030952 02 Apr 2017 Finding Birk-Barel Intellectual Disability Dysmorphism Syndrome CN239226 02 Dec 2016 Disease Birk-Barel syndrome MONDO C2676770 MONDO:0012856 612292 17 Apr 2020 Disease Birk-Landau-Perez syndrome NCBI curation C4539828 617595 30 Jul 2017 Disease Birt-Hogg-Dub syndrome CN221571 16 Feb 2016 Disease Birt-Hogg-Dubé Syndrome CN257768 02 Nov 2018 Disease Birth length greater than 97th percentile Human Phenotype Ontology C1839271 HP:0003517 16 Feb 2016 Finding Birth length less than 3rd percentile Human Phenotype Ontology C1855650 HP:0003561 16 Feb 2016 Finding Birth weight 90th centile CN235253 19 Feb 2016 Finding Birth weight quantitative trait locus 1 NCBI curation C3150459 20 Jun 2017 Disease Birth weight quantitative trait locus 2 NCBI curation C3150709 613459 16 Feb 2016 Disease Birth weight quantitative trait locus 3 NCBI curation 16 Feb 2016 Disease Birth weight quantitative trait locus 4 NCBI curation C3554662 615192 16 Feb 2016 Disease Bisalbuminemia NCBI curation 16 Feb 2016 Disease Bisphosphonates response - Efficacy PharmGKB CN236487 619523395 18 May 2016 Pharmacological response Bitemporal forceps marks Human Phenotype Ontology C4023409 HP:0011336 16 Feb 2016 Finding Bitemporal hemianopia Human Phenotype Ontology C0221184 HP:0030521 16 Feb 2016 Finding Bitemporal hollowing Human Phenotype Ontology C1855488 HP:0025386 04 Apr 2018 Finding Bitot spots of the conjunctiva Human Phenotype Ontology C4024868 HP:0007462 16 Feb 2016 Finding Biventricular dysfunction 22 Jun 2020 Finding Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection Human Phenotype Ontology C4023304 HP:0011550 16 Feb 2016 Finding Biventricular hypertrophy Human Phenotype Ontology C0281788 HP:0200128 16 Feb 2016 Finding Biventricular noncompaction cardiomyopathy Human Phenotype Ontology C4022713 HP:0012818 16 Feb 2016 Finding Bizarre leiomyoma MONDO C0334478 MONDO:0003288 17 Apr 2020 Disease Bjornstad syndrome with mild mitochondrial complex III deficiency NCBI curation C4016851 22 Jan 2017 Disease BK-virus nephropathy C1697878 16 Feb 2016 Infectious disease BKM DNA OMIM CN263252 109780 109780 08 Feb 2020 Disease Black locks with albinism and deafness syndrome NCBI curation 16 Feb 2016 Disease Black piedra MONDO C0153249 MONDO:0005669 04 Jun 2020 Infectious disease Black pigment gallstones Human Phenotype Ontology C4023098 HP:0011982 16 Feb 2016 Finding Blackwater fever MONDO C0005681 MONDO:0005670 04 Jun 2020 Infectious disease Bladder adenocarcinoma MONDO C0279682 MONDO:0002751 17 Apr 2020 Disease Bladder benign neoplasm MONDO C0154017 MONDO:0000384 17 Apr 2020 Disease bladder cancer CN235588 19 Mar 2016 Finding Bladder cancer, transitional cell, somatic NCBI curation C4016403 16 Feb 2016 Disease Bladder carcinoma Human Phenotype Ontology C0699885 HP:0002862 16 Feb 2016 Disease Bladder carcinoma in situ MONDO C0154091 MONDO:0004703 17 Apr 2020 Disease Bladder clear cell adenocarcinoma MONDO C1332557 MONDO:0003386 17 Apr 2020 Disease Bladder colloid adenocarcinoma MONDO C1511193 MONDO:0002750 17 Apr 2020 Disease Bladder colonic type adenocarcinoma MONDO C1511188 MONDO:0003938 17 Apr 2020 Disease Bladder diffuse clear cell adenocarcinoma MONDO C1511187 MONDO:0003810 17 Apr 2020 Disease Bladder dome cancer MONDO C0496827 MONDO:0001380 17 Apr 2020 Disease Bladder duplication Human Phenotype Ontology C0238026 HP:0025489 04 Apr 2018 Finding Bladder exstrophy Human Phenotype Ontology C0005689 HP:0002836 600057 16 Feb 2016 Finding Bladder fistula Human Phenotype Ontology C0005690 HP:0004321 16 Feb 2016 Finding Bladder flat intraepithelial lesion MONDO C1332559 MONDO:0006111 17 Apr 2020 Disease Bladder hepatoid adenocarcinoma MONDO C1511189 MONDO:0004459 17 Apr 2020 Disease Bladder inflammatory myofibroblastic tumor MONDO C1336891 MONDO:0006112 17 Apr 2020 Disease Bladder lateral wall cancer MONDO C0496828 MONDO:0001319 17 Apr 2020 Disease Bladder leiomyoma MONDO C1332560 MONDO:0001634 17 Apr 2020 Disease Bladder lymphoma MONDO C1332561 MONDO:0001381 17 Apr 2020 Disease Bladder mixed adenocarcinoma MONDO C1511192 MONDO:0004458 17 Apr 2020 Disease Bladder neck cancer MONDO MONDO:0001372 17 Apr 2020 Disease Bladder neck obstruction MONDO C0005694 MONDO:0006679 17 Apr 2020 Disease Bladder neoplasm Human Phenotype Ontology C0005695 HP:0009725 16 Feb 2016 Finding Bladder papillary clear cell adenocarcinoma MONDO C1511196 MONDO:0004445 17 Apr 2020 Disease Bladder papillary urothelial carcinoma MONDO C1518882 MONDO:0004056 17 Apr 2020 Disease Bladder papillary urothelial neoplasm MONDO C1511197 MONDO:0003442 17 Apr 2020 Disease Bladder polyp Human Phenotype Ontology C0586737 HP:0031261 04 Apr 2018 Finding Bladder sarcoma MONDO C0349666 MONDO:0001374 17 Apr 2020 Disease Bladder signet ring cell adenocarcinoma MONDO C1332563 MONDO:0003891 17 Apr 2020 Disease Bladder squamous cell carcinoma MONDO C0279681 MONDO:0002760 17 Apr 2020 Disease Bladder squamous papilloma MONDO C1511199 MONDO:0001635 17 Apr 2020 Disease Bladder stones Human Phenotype Ontology C0005683 HP:0010474 16 Feb 2016 Finding Bladder trigone cancer MONDO C0496826 MONDO:0001375 17 Apr 2020 Disease Bladder tubulo-cystic clear cell adenocarcinoma MONDO C1511203 MONDO:0004444 17 Apr 2020 Disease Bladder urachal adenocarcinoma MONDO C1511204 MONDO:0004331 17 Apr 2020 Disease Bladder urachal carcinoma MONDO C1511205 MONDO:0003715 17 Apr 2020 Disease Bladder urachal squamous cell carcinoma MONDO C1511206 MONDO:0003714 17 Apr 2020 Disease Bladder urachal urothelial carcinoma MONDO C1511207 MONDO:0004163 17 Apr 2020 Disease Bladder urothelial papilloma MONDO C1384678 MONDO:0044906 17 Apr 2020 Disease Bladder verrucous carcinoma MONDO C1511208 MONDO:0002759 17 Apr 2020 Disease Blaichman syndrome 16 Feb 2016 Disease Blake pouch cyst MONDO CN227857 MONDO:0020351 17 Apr 2020 Disease Blast phase chronic myelogenous leukemia, BCR-ABL1 positive MONDO C0005699 MONDO:0006115 17 Apr 2020 Disease Blastema predominant kidney Wilms tumor MONDO C0279609 MONDO:0003320 17 Apr 2020 Disease Blastic plasmacytoid dendritic cell 16 Feb 2016 Disease Blastocystis infectious disease MONDO CN281768 MONDO:0005671 04 Jun 2020 Infectious disease Blastoma 16 Feb 2016 Disease Blastomycosis C0005716 16 Feb 2016 Infectious disease Blau syndrome NCBI curation C5201146 186580 04 Jan 2020 Disease Bleeding diathesis due to a collagen receptor defect MONDO CN227579 MONDO:0019138 17 Apr 2020 Disease Bleeding disorder platelet type macrothrombocytopenia CN233138 16 Feb 2016 Disease Bleeding disorder, east Texas type NCBI curation C1853831 605913 24 Apr 2016 Disease Bleeding disorder, platelet-type, 16, autosomal dominant CN258968 12 Jun 2019 Disease Bleeding disorder, platelet-type, 21 NCBI curation C4479515 617443 20 Jun 2017 Disease BLEEDING DISORDER, PLATELET-TYPE, 22 OMIM C5193111 618462 618462 13 Jun 2019 Disease Bleeding requiring red cell transfusion Human Phenotype Ontology C4023144 HP:0011888 16 Feb 2016 Finding Bleeding with minor or no trauma Human Phenotype Ontology C4023143 HP:0011889 16 Feb 2016 Finding BLEOMYCIN HYDROLASE POLYMORPHISM 16 Feb 2016 Disease Blepharitis Human Phenotype Ontology C0005741 HP:0000498 16 Feb 2016 Finding Blepharo naso facial syndrome Van maldergem type 16 Feb 2016 Disease Blepharochalasis Human Phenotype Ontology C0005742 HP:0010749 16 Feb 2016 Finding Blepharochalasis, superior NCBI curation C1862275 110000 16 Feb 2016 Disease Blepharocheilodontic syndrome OMIM phenotypic series C1861536 PS119580 28 Dec 2019 Disease Blepharocheilodontic syndrome 1 NCBI curation C4551988 119580 28 Dec 2019 Disease Blepharocheilodontic syndrome 2 NCBI curation C4540127 617681 28 Dec 2019 Disease Blepharoconjunctivitis MONDO C0005743 MONDO:0002307 17 Apr 2020 Disease Blepharonasofacial malformation syndrome MONDO C0796197 MONDO:0007200 110050 17 Apr 2020 Disease Blepharophimosis Human Phenotype Ontology C0005744 HP:0000581 16 Feb 2016 Finding Blepharophimosis (disease) MONDO MONDO:0001008 17 Apr 2020 Disease Blepharophimosis - intellectual disability syndrome MONDO CN203134 MONDO:0017393 17 Apr 2020 Disease Blepharophimosis - intellectual disability syndrome due to UBE3B deficiency MONDO CN204202 MONDO:0017996 17 Apr 2020 Disease Blepharophimosis - intellectual disability syndrome, SBBYS type MONDO C1863557 MONDO:0011365 603736 17 Apr 2020 Disease Blepharophimosis nasal groove growth retardation 16 Feb 2016 Disease Blepharophimosis with facial and genital anomalies and mental retardation NCBI curation C1858538 604314 16 Feb 2016 Disease Blepharophimosis with ptosis, syndactyly, and short stature NCBI curation C1859432 210745 16 Feb 2016 Disease Blepharophimosis, ptosis, and epicanthus inversus NCBI curation C0220663 110100 16 Feb 2016 Disease Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 NCBI curation C2931135 22 Oct 2017 Disease Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 NCBI curation C2931136 22 Oct 2017 Disease Blepharophimosis, ptosis, and epicanthus inversus, type I, autosomal recessive 07 May 2017 Disease Blepharophimosis, ptosis, and epicanthus inversus, type II with Duane retraction syndrome NCBI curation C1854128 22 Oct 2017 Disease Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome MONDO MONDO:0016857 17 Apr 2020 Disease Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome MONDO MONDO:0016858 17 Apr 2020 Disease Blepharophimosis-epicanthus inversus-ptosis due to copy number variations MONDO MONDO:0016859 17 Apr 2020 Disease Blepharophimosis-radioulnar synostosis syndrome MONDO C2931162 MONDO:0015255 17 Apr 2020 Disease Blepharoptosis aortic anomaly 16 Feb 2016 Disease Blepharoptosis cleft palate ectrodactyly dental anomalies 16 Feb 2016 Disease Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome MONDO MONDO:0015256 17 Apr 2020 Disease Blepharoptosis-myopia-ectopia lentis syndrome MONDO C1862259 MONDO:0007202 110150 17 Apr 2020 Disease Blepharospasm Human Phenotype Ontology C4692845 HP:0000643 606798 16 Feb 2016 Finding Blepharospasm-oromandibular dystonia syndrome MONDO C0025183 MONDO:0019772 17 Apr 2020 Disease Blessig's cysts MONDO C0154855 MONDO:0001454 17 Apr 2020 Disease Blind hypertensive eye MONDO C0154789 MONDO:0001363 17 Apr 2020 Disease Blind hypotensive eye MONDO MONDO:0001360 17 Apr 2020 Disease Blind loop syndrome MONDO C0005750 MONDO:0005673 17 Apr 2020 Disease Blind vagina Human Phenotype Ontology C1848182 HP:0040314 04 Apr 2018 Finding Blind-spot enlargment Human Phenotype Ontology C4073109 HP:0030644 16 Feb 2016 Finding Blindness Human Phenotype Ontology C0456909 HP:0000618 16 Feb 2016 Finding Blindness (disorder) MONDO MONDO:0001941 17 Apr 2020 Disease Block vertebrae Human Phenotype Ontology C1844753 HP:0003305 16 Feb 2016 Finding Blocked Eustachian tube Human Phenotype Ontology C0149508 HP:0040269 02 Apr 2017 Finding Blood coagulation disease MONDO MONDO:0001531 17 Apr 2020 Disease Blood Coagulation Disorders PharmGKB 06 Jul 2018 Disease Blood Coagulation Disorders, Inherited NCBI curation C0852077 16 Feb 2016 Disease Blood group antigen abnormality Human Phenotype Ontology C4023620 HP:0010970 16 Feb 2016 Finding BLOOD GROUP ERIK 16 Feb 2016 Blood group Blood group incompatibility MONDO C0005806 MONDO:0002901 17 Apr 2020 Disease BLOOD GROUP O C0427625 16 Feb 2016 Blood group Blood group, Chido/Rodgers system NCBI curation C1292315 614374 16 Feb 2016 Blood group Blood group, Dombrock system NCBI curation C1292294 616060 16 Feb 2016 Blood group Blood group, Gerbich system NCBI curation C1292300 616089 16 Feb 2016 Blood group Blood group, globoside system NCBI curation C3539121 615021 16 Feb 2016 Blood group Blood group, Junior system NCBI curation C3280986 614490 16 Feb 2016 Blood group BLOOD GROUP, MN OMIM C0026327 111300 111300 30 Mar 2018 Disease BLOOD GROUP, Ss OMIM C4551874 111740 111740 30 Mar 2018 Disease BLOOD GROUP--ABH ANTIGEN, TYPE 2 OMIM C1862249 110310 110310 16 Feb 2016 Blood group BLOOD GROUP--ABO SUPPRESSOR OMIM C1862258 110250 110250 16 Feb 2016 Blood group BLOOD GROUP--AHONEN OMIM C1862248 110350 110350 16 Feb 2016 Blood group BLOOD GROUP--DIEGO SYSTEM C1292286 110500 16 Feb 2016 Blood group BLOOD GROUP--En OMIM C1862238 110720 110720 16 Feb 2016 Blood group BLOOD GROUP--FROESE OMIM C1832168 601551 601551 16 Feb 2016 Blood group BLOOD GROUP--KIDD SYSTEM C0022645 111000 16 Feb 2016 Blood group BLOOD GROUP--LKE OMIM C1862216 111130 111130 16 Feb 2016 Blood group BLOOD GROUP--LUTHERAN INHIBITOR OMIM C1292231 111150 111150 16 Feb 2016 Blood group BLOOD GROUP--LUTHERAN NULL NCBI curation C4017284 16 Feb 2016 Blood group BLOOD GROUP--LUTHERAN SYSTEM OMIM C0024171 111200 111200 16 Feb 2016 Blood group BLOOD GROUP--NEWFOUNDLAND OMIM C1862210 111360 111360 16 Feb 2016 Blood group BLOOD GROUP--OK OMIM C1862209 111380 111380 16 Feb 2016 Blood group BLOOD GROUP--PRIVATE SYSTEMS OMIM C1862206 111500 111500 16 Feb 2016 Blood group BLOOD GROUP--RHESUS SYSTEM E POLYPEPTIDE CN029818 16 Feb 2016 Blood group BLOOD GROUP--STOLTZFUS SYSTEM OMIM C1862193 111800 111800 16 Feb 2016 Blood group BLOOD GROUP--SWANN SYSTEM OMIM C1832169 601550 601550 16 Feb 2016 Blood group BLOOD GROUP--Ul SYSTEM OMIM C1862192 112000 112000 16 Feb 2016 Blood group BLOOD GROUP--WALDNER TYPE OMIM C1862191 112010 112010 16 Feb 2016 Blood group BLOOD GROUP--WRIGHT ANTIGEN OMIM C1862190 112050 112050 16 Feb 2016 Blood group Blood vessel neoplasm MONDO C4722524 MONDO:0021080 17 Apr 2020 Disease Bloody diarrhea Human Phenotype Ontology C0151594 HP:0025085 02 Apr 2017 Finding Bloody mucoid diarrhea Human Phenotype Ontology C4476583 HP:0025086 02 Apr 2017 Finding Bloom syndrome C0005859 210900 16 Feb 2016 Disease Blotching pigmentation of the skin Human Phenotype Ontology C4024831 HP:0007610 16 Feb 2016 Finding Blount disease, adolescent NCBI curation C3151572 259200 16 Feb 2016 Disease blue iris 17 Mar 2020 Finding Blue drum syndrome MONDO C0395863 MONDO:0004865 17 Apr 2020 Disease Blue irides Human Phenotype Ontology C0578626 HP:0000635 16 Feb 2016 Finding Blue nevi, familial multiple NCBI curation C1863617 603670 16 Feb 2016 Disease Blue nevus Human Phenotype Ontology C4020699 HP:0100814 16 Feb 2016 Finding Blue rubber bleb nevus C0346072 112200 16 Feb 2016 Disease Blue sclerae Human Phenotype Ontology C0542514 HP:0000592 16 Feb 2016 Finding Blue toe syndrome MONDO C0242645 MONDO:0001883 17 Apr 2020 Disease Blue urine Human Phenotype Ontology C4477103 HP:0040317 04 Apr 2018 Finding Bluetongue MONDO C0005866 MONDO:0025385 04 Jun 2020 Infectious disease bluish sclera 22 Oct 2019 Finding Blunt duct adenosis of breast MONDO C1332573 MONDO:0003723 17 Apr 2020 Disease Blurred vision Human Phenotype Ontology C0344232 HP:0000622 16 Feb 2016 Finding BMP4-Related Syndromic Microphthalmia CN239242 02 Dec 2016 Disease BMPR1A Skeletal Dysplasia Syndrome 30 Jun 2018 Disease BNAR syndrome MONDO C2750433 MONDO:0012165 608980 17 Apr 2020 Disease Bobble-head doll syndrome C2931137 16 Feb 2016 Disease Boceprevir response CN077960 16 Feb 2016 Pharmacological response boceprevir response - Efficacy PharmGKB CN240591 1183680546 17 Feb 2017 Pharmacological response boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, simeprevir, and telaprevir response - Efficacy PharmGKB 1184136380 06 Jul 2018 Pharmacological response Bockenheimer syndrome MONDO CN201119 MONDO:0016311 17 Apr 2020 Disease Body composition, beneficial NCBI curation C1841982 16 Feb 2016 Disease Body dysmorphic disorder MONDO C0005887 MONDO:0000690 17 Apr 2020 Disease Body mass index quantitative trait locus 1 NCBI curation C3888010 606641 24 Aug 2016 Disease Body mass index quantitative trait locus 10 NCBI curation C2675659 607514 16 Feb 2016 Disease Body mass index quantitative trait locus 11 NCBI curation C2678155 300306 16 Feb 2016 Disease Body mass index quantitative trait locus 12 NCBI curation C2676498 612362 16 Feb 2016 Disease Body mass index quantitative trait locus 13 NCBI curation C2675915 612459 16 Feb 2016 Disease Body mass index quantitative trait locus 14 NCBI curation C2675914 612460 16 Feb 2016 Disease Body mass index quantitative trait locus 15 NCBI curation C2751823 612967 16 Feb 2016 Disease Body mass index quantitative trait locus 17 NCBI curation C3553098 16 Feb 2016 Disease Body mass index quantitative trait locus 18 NCBI curation C3714940 615457 16 Feb 2016 Disease BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 OMIM C4693522 617885 617885 01 Mar 2018 Disease Body mass index quantitative trait locus 2 NCBI curation C1847733 606643 16 Feb 2016 Disease BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 OMIM C4759928 618406 618406 03 May 2019 Disease Body mass index quantitative trait locus 3 NCBI curation C1843899 607446 16 Feb 2016 Disease Body mass index quantitative trait locus 4 NCBI curation C1843898 607447 16 Feb 2016 Disease Body mass index quantitative trait locus 5 NCBI curation C1837870 608558 16 Feb 2016 Disease Body mass index quantitative trait locus 6 NCBI curation C1837869 608559 16 Feb 2016 Disease Body mass index quantitative trait locus 7 NCBI curation C2675358 608410 16 Feb 2016 Disease Body mass index quantitative trait locus 8 NCBI curation C2676933 603188 16 Feb 2016 Disease Body mass index quantitative trait locus 9 NCBI curation C2677162 602025 16 Feb 2016 Disease Body mass index, modifier of NCBI curation 16 Feb 2016 Disease Body odor Human Phenotype Ontology C0085595 HP:0500001 04 Apr 2018 Finding Boerhaave syndrome 16 Feb 2016 Disease Bohring-Opitz syndrome MONDO C0796232 MONDO:0011510 605039 17 Apr 2020 Disease Bohring-Opitz-like syndrome 16 May 2018 Disease Bolivian hemorrhagic fever MONDO C0282192 MONDO:0017875 04 Jun 2020 Infectious disease Bombay phenotype NCBI curation C1859408 616754 16 Feb 2016 Finding BOMBAY PHENOTYPE, DIGENIC CN257534 21 Dec 2018 Disease Bone ameloblastoma MONDO MONDO:0000513 17 Apr 2020 Disease Bone angiosarcoma MONDO C1332574 MONDO:0002617 17 Apr 2020 Disease Bone benign neoplasm MONDO MONDO:0000631 17 Apr 2020 Disease Bone cancer 16 Feb 2016 Disease Bone carcinoma MONDO MONDO:0002415 17 Apr 2020 Disease Bone chondrosarcoma MONDO MONDO:0000515 17 Apr 2020 Disease Bone cyst Human Phenotype Ontology C0005937 HP:0012062 16 Feb 2016 Finding Bone deterioration disease MONDO MONDO:0000834 17 Apr 2020 Disease Bone development disease MONDO MONDO:0005497 17 Apr 2020 Disease Bone disease MONDO C0005940 MONDO:0005381 17 Apr 2020 Disease Bone dysplasia corpus callosum agenesis 16 Feb 2016 Disease Bone dysplasia Moore type 16 Feb 2016 Disease Bone dysplasia, Azouz type MONDO MONDO:0015985 22 Apr 2020 Disease Bone dysplasia, lethal Holmgren type MONDO C1859407 MONDO:0008878 211120 22 Apr 2020 Disease Bone epithelioid hemangioma MONDO C1332575 MONDO:0003945 17 Apr 2020 Disease Bone fibrosarcoma MONDO C2733623 MONDO:0002619 17 Apr 2020 Disease Bone fracture MONDO C0016658 MONDO:0005315 17 Apr 2020 Disease Bone fragility craniosynostosis proptosis hydrocephalus 16 Feb 2016 Disease Bone fragility with contractures, arterial rupture, and deafness NCBI curation C2676285 612394 16 Feb 2016 Disease Bone inflammation disease MONDO C0029400 MONDO:0002614 17 Apr 2020 Disease Bone leiomyosarcoma MONDO C1332579 MONDO:0002624 17 Apr 2020 Disease Bone marrow cancer MONDO C2703042 MONDO:0021138 17 Apr 2020 Disease Bone marrow failure syndrome OMIM phenotypic series C2931245 PS614675 23 Oct 2016 Disease Bone marrow failure syndrome 1 NCBI curation C3808553 614675 24 Aug 2016 Disease Bone marrow failure syndrome 2 NCBI curation C3810350 615715 16 Feb 2016 Disease Bone marrow failure syndrome 3 NCBI curation C4310744 617052 24 Aug 2016 Disease BONE MARROW FAILURE SYNDROME 4 OMIM C4748257 618116 618116 15 Sep 2018 Disease BONE MARROW FAILURE SYNDROME 5 OMIM C4748488 618165 618165 02 Nov 2018 Disease BONE MARROW FAILURE SYNDROME 6 OMIM CN280850 618849 618849 24 Apr 2020 Disease Bone marrow hypercellularity Human Phenotype Ontology C1860320 HP:0031020 04 Apr 2018 Finding Bone marrow hypocellularity Human Phenotype Ontology C1855710 HP:0005528 16 Feb 2016 Finding Bone marrow neoplasm MONDO C0282609 MONDO:0005374 17 Apr 2020 Disease Bone marrow transplant CN873438 19 Mar 2018 Finding Bone mineral density QTL18, osteoporosis CN560211 25 Oct 2017 Disease Bone mineral density quantitative trait locus 1 NCBI curation C1866079 601884 16 Feb 2016 Disease Bone mineral density quantitative trait locus 10 NCBI curation C2677498 612113 16 Feb 2016 Disease Bone mineral density quantitative trait locus 11 NCBI curation C2677497 612114 16 Feb 2016 Disease Bone mineral density quantitative trait locus 12 NCBI curation C2675513 612560 16 Feb 2016 Disease Bone mineral density quantitative trait locus 13 NCBI curation C2674801 612727 16 Feb 2016 Disease Bone mineral density quantitative trait locus 14 NCBI curation C2674800 612728 16 Feb 2016 Disease Bone mineral density quantitative trait locus 15 NCBI curation C3150680 613418 16 Feb 2016 Disease Bone mineral density quantitative trait locus 16 NCBI curation C3714945 615221 16 Feb 2016 Disease Bone mineral density quantitative trait locus 17 NCBI curation C3714987 615311 16 Feb 2016 Disease Bone mineral density quantitative trait locus 18 NCBI curation C3806712 300910 16 Feb 2016 Disease Bone mineral density quantitative trait locus 2 NCBI curation C1853912 605833 16 Feb 2016 Disease Bone mineral density quantitative trait locus 3 NCBI curation C1847161 606928 16 Feb 2016 Disease Bone mineral density quantitative trait locus 4 NCBI curation C1845236 300536 16 Feb 2016 Disease Bone mineral density quantitative trait locus 5 NCBI curation C1836276 609354 16 Feb 2016 Disease Bone mineral density quantitative trait locus 6 NCBI curation C1835949 609876 16 Feb 2016 Disease Bone mineral density quantitative trait locus 7 NCBI curation C2673201 611738 16 Feb 2016 Disease Bone mineral density quantitative trait locus 8 NCBI curation C2678504 611739 16 Feb 2016 Disease Bone mineral density quantitative trait locus 9 NCBI curation C2677499 612110 16 Feb 2016 Disease Bone Mineral Density Variation CN239274 02 Dec 2016 Disease Bone mineral density variation quantitative trait locus NCBI curation C4015951 16 Feb 2016 Disease Bone pain Human Phenotype Ontology C0151825 HP:0002653 16 Feb 2016 Finding Bone pain, periodic NCBI curation C1862176 112270 16 Feb 2016 Disease Bone remodeling disease MONDO MONDO:0000833 17 Apr 2020 Disease Bone resorption disease MONDO MONDO:0000837 17 Apr 2020 Disease Bone sarcoma MONDO C1704327 MONDO:0021054 17 Apr 2020 Disease Bone size quantitative trait locus 1 NCBI curation C1864783 609656 16 Feb 2016 Disease Bone size quantitative trait locus 2 NCBI curation C1864782 609657 16 Feb 2016 Disease Bone size quantitative trait locus 3 NCBI curation C1857711 610649 16 Feb 2016 Disease Bone spicule pigmentation of the retina Human Phenotype Ontology C1836926 HP:0007737 16 Feb 2016 Finding Bone squamous cell carcinoma MONDO MONDO:0000514 17 Apr 2020 Disease Bone-in-a-bone appearance of carpal bones Human Phenotype Ontology C4025403 HP:0004234 16 Feb 2016 Finding Bone-in-a-bone appearance of forearm Human Phenotype Ontology C4025482 HP:0003955 02 Apr 2017 Finding Bone-marrow foam cells Human Phenotype Ontology C1856560 HP:0004333 16 Feb 2016 Finding Bony paranasal bossing Human Phenotype Ontology C1857499 HP:0004407 16 Feb 2016 Finding Bony spikule of ulnar epiphyseal plate Human Phenotype Ontology HP:0004038 16 Feb 2016 Finding Boomerang dysplasia C0432201 112310 16 Feb 2016 Disease Borborygmi common 23 Jan 2020 Finding Border disease MONDO C0006008 MONDO:0005675 17 Apr 2020 Disease Borderline epithelial tumor of ovary MONDO C3665489 MONDO:0016093 17 Apr 2020 Disease Borderline glaucoma MONDO C1533674 MONDO:0004744 17 Apr 2020 Disease Borderline leprosy MONDO C0023346 MONDO:0005125 04 Jun 2020 Infectious disease Borderline microcephaly CN232348 16 Feb 2016 Finding Borderline ovarian serous tumor MONDO C1332598 MONDO:0020662 17 Apr 2020 Disease Borderline personality disorder Human Phenotype Ontology C0006012 HP:0012076 16 Feb 2016 Finding Borderline personality disorder (disease) MONDO MONDO:0001156 17 Apr 2020 Disease Borderline-low IgG levels which dropped significantly over 12 months CN235534 16 Mar 2016 Finding Bordetella parapertussis infectious disease MONDO C0275742 MONDO:0001353 04 Jun 2020 Infectious disease Bordetellosis MONDO C0006015 MONDO:0037872 04 Jun 2020 Infectious disease Borjeson-Forssman-Lehmann syndrome C0265339 301900 16 Feb 2016 Disease Bork Stender Schmidt syndrome C1860605 191482 16 Feb 2016 Disease Borna disease MONDO C0006023 MONDO:0005676 04 Jun 2020 Infectious disease Bornholm eye disease NCBI curation C3159311 300843 16 Feb 2016 Disease Borrelia infectious disease MONDO C0006035 MONDO:0006681 04 Jun 2020 Infectious disease Borrone Di Rocco Crovato syndrome C1859406 16 Feb 2016 Disease Borst-Jadassohn intraepidermal carcinoma MONDO MONDO:0004083 17 Apr 2020 Disease Bosch-Boonstra-Schaaf optic atrophy syndrome NCBI curation C3810363 615722 22 Apr 2016 Disease Bosley-Salih-Alorainy syndrome NCBI curation C1832216 16 Feb 2016 Disease both hippocampi malrotated CN238722 19 Oct 2016 Finding Bothnia retinal dystrophy NCBI curation C1843816 607475 16 Feb 2016 Disease Bothriocephalosis 16 Feb 2016 Disease Botryoid rhabdomyosarcoma MONDO C1306574 MONDO:0002578 17 Apr 2020 Disease Botryoid-type embryonal rhabdomyosarcoma of the vagina MONDO C1511275 MONDO:0003994 17 Apr 2020 Disease Botulism CN281687 16 Feb 2016 Infectious disease Bouchard's node Human Phenotype Ontology C0263780 HP:0012314 16 Feb 2016 Finding Boudhina Yedes Khiari syndrome C2931668 16 Feb 2016 Disease Bourneville syndrome 16 Feb 2016 Disease Boutonneuse fever MONDO C0006060 MONDO:0024472 04 Jun 2020 Infectious disease Bowed forearm bones Human Phenotype Ontology C4025481 HP:0003956 16 Feb 2016 Finding Bowed humerus Human Phenotype Ontology C1859460 HP:0003865 16 Feb 2016 Finding Bowel diverticulosis Human Phenotype Ontology C1395674 HP:0005222 16 Feb 2016 Finding Bowel dysfunction MONDO C2004461 MONDO:0004880 17 Apr 2020 Disease Bowel incontinence Human Phenotype Ontology C0015732 HP:0002607 16 Feb 2016 Finding Bowel urgency Human Phenotype Ontology C0426636 HP:0012701 16 Feb 2016 Finding Bowen disease of the skin MONDO C0006079 MONDO:0020761 17 Apr 2020 Disease Bowen syndrome of multiple malformations MONDO C1859404 MONDO:0008880 211200 17 Apr 2020 Disease Bowen's disease 16 Feb 2016 Disease Bowen-Conradi syndrome C1859405 211180 16 Feb 2016 Disease Bowenoid papulosis C0334106 16 Feb 2016 Disease Bowing congenital short bones 16 Feb 2016 Disease Bowing of limbs due to multiple fractures Human Phenotype Ontology C1850178 HP:0003023 16 Feb 2016 Finding Bowing of the arm Human Phenotype Ontology C0426863 HP:0006488 16 Feb 2016 Finding Bowing of the legs Human Phenotype Ontology CN002695 HP:0002979 16 Feb 2016 Finding Bowing of the long bones Human Phenotype Ontology C1855340 HP:0006487 16 Feb 2016 Finding Bowing of the vocal cords Human Phenotype Ontology C0396064 HP:0008756 16 Feb 2016 Finding Bowman's membrane folds or rupture MONDO C0155115 MONDO:0001310 17 Apr 2020 Disease Boylan Dew Greco syndrome C2931419 16 Feb 2016 Disease Brachial amelia, forebrain defects and facial clefts C1832434 601357 16 Feb 2016 Disease Brachial amyotrophic diplegia MONDO C4522181 MONDO:0020708 17 Apr 2020 Disease Brachial Artery Aneurysms 26 Sep 2019 Finding brachial cleft cyst 05 Sep 2019 Finding Brachial palsy, familial congenital NCBI curation C1837810 608585 16 Feb 2016 Disease Brachial plexus neoplasm MONDO C1332602 MONDO:0003700 17 Apr 2020 Disease Brachial plexus neuritis MONDO MONDO:0006682 17 Apr 2020 Disease Brachial plexus neuropathy Human Phenotype Ontology C0700251 HP:0045054 16 Feb 2016 Finding Brachial plexus neuropathy from injury MONDO C0006091 MONDO:0004569 17 Apr 2020 Disease Brachioskeletogenital syndrome C0809936 211380 16 Feb 2016 Disease Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay NCBI curation C1862171 112370 16 Feb 2016 Disease Brachycephaly Human Phenotype Ontology C0221356 HP:0000248 16 Feb 2016 Finding Brachydactyly NCBI curation C0221357 16 Feb 2016 Disease Brachydactyly (disease) MONDO MONDO:0021004 17 Apr 2020 Disease Brachydactyly absence of distal phalanges 16 Feb 2016 Disease brachydactyly absent distal flexion creases of 1st finger 18 Aug 2017 Finding Brachydactyly anonychia 16 Feb 2016 Disease Brachydactyly dwarfism mental retardation 16 Feb 2016 Disease Brachydactyly elbow wrist dysplasia 16 Feb 2016 Disease Brachydactyly mesomelia mental retardation heart defects 16 Feb 2016 Disease Brachydactyly of fingers, bilateral MONDO MONDO:0017516 17 Apr 2020 Disease Brachydactyly of fingers, unilateral MONDO MONDO:0017515 17 Apr 2020 Disease Brachydactyly of toes, bilateral MONDO MONDO:0017518 17 Apr 2020 Disease Brachydactyly of toes, unilateral MONDO MONDO:0017517 17 Apr 2020 Disease Brachydactyly scoliosis carpal fusion 16 Feb 2016 Disease Brachydactyly small stature face anomalies 16 Feb 2016 Disease Brachydactyly tibial hypoplasia 16 Feb 2016 Disease Brachydactyly type A1, B NCBI curation C1846949 607004 16 Feb 2016 Disease Brachydactyly type A2 MONDO C1832702 MONDO:0007216 112600 22 Apr 2020 Disease Brachydactyly type A3 C1862140 112700 16 Feb 2016 Disease Brachydactyly type A6 C1862130 112910 16 Feb 2016 Disease Brachydactyly type A7 C4303991 16 Feb 2016 Disease Brachydactyly type B 16 Feb 2016 Disease Brachydactyly type B1 MONDO C1862112 MONDO:0007220 113000 17 Apr 2020 Disease Brachydactyly type B2 NCBI curation C1969652 611377 16 Feb 2016 Disease Brachydactyly type C MONDO C1862103 MONDO:0007221 113100 22 Apr 2020 Disease Brachydactyly type D MONDO C0220664 MONDO:0007222 113200 22 Apr 2020 Disease Brachydactyly type D Human Phenotype Ontology C0220664 HP:0005627 113200 22 Apr 2020 Disease Brachydactyly type E 16 Feb 2016 Disease Brachydactyly type E1 NCBI curation C1862102 113300 16 Feb 2016 Disease Brachydactyly type E2 NCBI curation C3150644 613382 16 Feb 2016 Disease brachydactyly with metacarpal epiphysis thickening with the third hypoplastic phalanx 22 Aug 2019 Finding brachydactyly with wide thumbs 22 Aug 2019 Finding Brachydactyly, coloboma, and anterior segment dysgenesis NCBI curation C1864901 610023 16 Feb 2016 Disease Brachydactyly, intraventricular septal defect, and deafness NCBI curation C1865182 602561 16 Feb 2016 Disease Brachydactyly, Mononen type NCBI curation C1844919 301940 16 Feb 2016 Disease Brachydactyly, type a1, c NCBI curation C3554446 615072 26 May 2016 Disease Brachydactyly, type a1, d NCBI curation C4225183 616849 26 May 2016 Disease Brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation NCBI curation C3150890 613627 26 May 2016 Disease Brachydactyly, type a2, with microcephaly NCBI curation C1859393 211369 26 May 2016 Disease Brachydactyly, type B1Robinow syndrome, autosomal recessive CN221286 16 Feb 2016 Disease Brachydactyly, type e, with atrial septal defect, type II NCBI curation C1862101 113301 26 May 2016 Disease Brachydactyly-arterial hypertension syndrome MONDO C1862170 MONDO:0007211 112410 17 Apr 2020 Disease Brachydactyly-long thumb syndrome MONDO C1862169 MONDO:0007212 112430 22 Apr 2020 Disease Brachydactyly-Mental Retardation syndrome NCBI curation C1838126 600430 16 Feb 2016 Disease Brachydactyly-mesomelia-intellectual disability-heart defects syndrome MONDO CN199165 MONDO:0015259 17 Apr 2020 Disease Brachydactyly-nystagmus-cerebellar ataxia NCBI curation C1862099 113400 16 Feb 2016 Disease Brachydactyly-preaxial hallux varus syndrome MONDO C1862162 MONDO:0007214 112450 17 Apr 2020 Disease Brachydactyly-syndactyly syndrome NCBI curation C1853137 610713 16 Feb 2016 Disease Brachydactyly-syndactyly-oligodactyly syndrome NCBI curation CN236408 07 Aug 2018 Disease Brachymesomelia-renal syndrome MONDO C1862084 MONDO:0007228 113470 17 Apr 2020 Disease Brachymesophalangy type 2 16 Feb 2016 Disease Brachymetapody-anodontia-hypotrichosis-albinoidism NCBI curation C1859385 211370 16 Feb 2016 Disease Brachymetatarsus 4 MONDO C1862083 MONDO:0007229 113475 17 Apr 2020 Disease Brachymorphism-onychodysplasia-dysphalangism syndrome MONDO C1862082 MONDO:0007230 113477 17 Apr 2020 Disease Brachyolmia C0432228 02 Dec 2016 Disease Brachyolmia - Maroteaux type NCBI curation C1300264 613678 16 Feb 2016 Disease Brachyolmia type 1, Toledo type NCBI curation C1849048 271630 16 Feb 2016 Disease Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia C1864965 609945 16 Feb 2016 Disease Brachyrachia (short spine dysplasia) C0432227 113500 16 Feb 2016 Disease Brachytelephalangy with characteristic facies and kallmann syndrome NCBI curation C2931421 113480 16 Feb 2016 Disease Brachytelomesophalangy Human Phenotype Ontology C1847408 HP:0005872 16 Feb 2016 Finding Brachyturricephaly Human Phenotype Ontology C1857484 HP:0000244 16 Feb 2016 Finding Bracket epiphyses Human Phenotype Ontology C4023785 HP:0010578 16 Feb 2016 Finding Bracket epiphyses of the 2nd finger Human Phenotype Ontology C4021466 HP:0009489 16 Feb 2016 Finding Bracket epiphyses of the 2nd toe Human Phenotype Ontology C4022376 HP:0100045 16 Feb 2016 Finding Bracket epiphyses of the 3rd finger Human Phenotype Ontology C4024382 HP:0009411 16 Feb 2016 Finding Bracket epiphyses of the 3rd toe Human Phenotype Ontology C4022365 HP:0100056 16 Feb 2016 Finding Bracket epiphyses of the 4th finger Human Phenotype Ontology C4024396 HP:0009394 16 Feb 2016 Finding Bracket epiphyses of the 4th toe Human Phenotype Ontology C4022354 HP:0100067 16 Feb 2016 Finding Bracket epiphyses of the 5th finger Human Phenotype Ontology C4024406 HP:0009383 16 Feb 2016 Finding Bracket epiphyses of the 5th toe Human Phenotype Ontology C4022343 HP:0100078 16 Feb 2016 Finding Bracket epiphyses of the distal phalanges of the hand Human Phenotype Ontology C4023952 HP:0010247 16 Feb 2016 Finding Bracket epiphyses of the hallux Human Phenotype Ontology C4024045 HP:0010114 16 Feb 2016 Finding Bracket epiphyses of the middle phalanges of the hand Human Phenotype Ontology C4023942 HP:0010258 16 Feb 2016 Finding Bracket epiphyses of the phalanges of the hand Human Phenotype Ontology C4021309 HP:0010229 16 Feb 2016 Finding Bracket epiphyses of the proximal phalanges of the hand Human Phenotype Ontology C4023932 HP:0010269 16 Feb 2016 Finding Bracket epiphyses of the thumb Human Phenotype Ontology C4024232 HP:0009687 16 Feb 2016 Finding Bracket epiphyses of the toes Human Phenotype Ontology C4023996 HP:0010163 16 Feb 2016 Finding Bracket epiphysis of the 1st metacarpal Human Phenotype Ontology C4024107 HP:0010016 16 Feb 2016 Finding Bracket epiphysis of the 1st metatarsal Human Phenotype Ontology C4024009 HP:0010150 16 Feb 2016 Finding Bracket epiphysis of the distal phalanx of the 2nd finger Human Phenotype Ontology C4024327 HP:0009503 16 Feb 2016 Finding Bracket epiphysis of the distal phalanx of the 2nd toe Human Phenotype Ontology C4022320 HP:0100101 16 Feb 2016 Finding Bracket epiphysis of the distal phalanx of the 3rd finger Human Phenotype Ontology C4024431 HP:0009336 16 Feb 2016 Finding Bracket epiphysis of the distal phalanx of the 3rd toe Human Phenotype Ontology C4022285 HP:0100136 16 Feb 2016 Finding Bracket epiphysis of the distal phalanx of the 4th finger Human Phenotype Ontology C4024496 HP:0009251 16 Feb 2016 Finding Bracket epiphysis of the distal phalanx of the 4th toe Human Phenotype Ontology C4022251 HP:0100170 16 Feb 2016 Finding Bracket epiphysis of the distal phalanx of the 5th finger Human Phenotype Ontology C4024549 HP:0009187 16 Feb 2016 Finding Bracket epiphysis of the distal phalanx of the 5th toe Human Phenotype Ontology C4022218 HP:0100203 16 Feb 2016 Finding Bracket epiphysis of the distal phalanx of the hallux Human Phenotype Ontology C4024020 HP:0010139 16 Feb 2016 Finding Bracket epiphysis of the distal phalanx of the thumb Human Phenotype Ontology C4024241 HP:0009676 16 Feb 2016 Finding Bracket epiphysis of the middle phalanx of the 2nd finger Human Phenotype Ontology C4024318 HP:0009514 16 Feb 2016 Finding Bracket epiphysis of the middle phalanx of the 2nd toe Human Phenotype Ontology C4022309 HP:0100112 16 Feb 2016 Finding Bracket epiphysis of the middle phalanx of the 3rd finger Human Phenotype Ontology C4024443 HP:0009322 16 Feb 2016 Finding Bracket epiphysis of the middle phalanx of the 3rd toe Human Phenotype Ontology C4022274 HP:0100147 16 Feb 2016 Finding Bracket epiphysis of the middle phalanx of the 4th finger Human Phenotype Ontology C4024526 HP:0009215 16 Feb 2016 Finding Bracket epiphysis of the middle phalanx of the 4th toe Human Phenotype Ontology C4022240 HP:0100181 16 Feb 2016 Finding Bracket epiphysis of the middle phalanx of the 5th finger Human Phenotype Ontology C4024536 HP:0009204 16 Feb 2016 Finding Bracket epiphysis of the middle phalanx of the 5th toe Human Phenotype Ontology C4022207 HP:0100214 16 Feb 2016 Finding Bracket epiphysis of the proximal phalanx of the 2nd finger Human Phenotype Ontology C4021457 HP:0009525 16 Feb 2016 Finding Bracket epiphysis of the proximal phalanx of the 2nd toe Human Phenotype Ontology C4022298 HP:0100123 16 Feb 2016 Finding Bracket epiphysis of the proximal phalanx of the 3rd finger Human Phenotype Ontology C4024421 HP:0009347 16 Feb 2016 Finding Bracket epiphysis of the proximal phalanx of the 3rd toe Human Phenotype Ontology C4022263 HP:0100158 16 Feb 2016 Finding Bracket epiphysis of the proximal phalanx of the 4th finger Human Phenotype Ontology C4021506 HP:0009262 16 Feb 2016 Finding Bracket epiphysis of the proximal phalanx of the 4th toe Human Phenotype Ontology C4022229 HP:0100192 16 Feb 2016 Finding Bracket epiphysis of the proximal phalanx of the 5th finger Human Phenotype Ontology C4024542 HP:0009197 16 Feb 2016 Finding Bracket epiphysis of the proximal phalanx of the 5th toe Human Phenotype Ontology C4022196 HP:0100225 16 Feb 2016 Finding Bracket epiphysis of the proximal phalanx of the hallux Human Phenotype Ontology C4024031 HP:0010128 16 Feb 2016 Finding Bracket epiphysis of the proximal phalanx of the thumb Human Phenotype Ontology C4024252 HP:0009665 16 Feb 2016 Finding Bracket metacarpal epiphyses Human Phenotype Ontology C4021897 HP:0200050 16 Feb 2016 Finding bracycephaly 05 Sep 2019 Finding Braddock Jones Superneau syndrome 16 Feb 2016 Disease bradyarrhythmia C0079035 16 Jun 2016 Finding Bradycardia Human Phenotype Ontology C0428977 HP:0001662 16 Feb 2016 Finding Bradykinesia Human Phenotype Ontology C0233565 HP:0002067 16 Feb 2016 Finding Bradyopsia Human Phenotype Ontology C1842073 HP:0030511 608415 04 Apr 2018 Disease Brain abnormalities CN231474 16 Feb 2016 Finding BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS OMIM C5193117 618476 618476 23 Jun 2019 Disease Brain abscess Human Phenotype Ontology C0006105 HP:0030049 16 Feb 2016 Finding Brain Aneurysm NCBI curation C0751003 16 Feb 2018 Disease brain arachnoid cyst CN238715 19 Oct 2016 Finding Brain astrocytoma MONDO C3695127 MONDO:0021631 17 Apr 2020 Disease Brain atrophy Human Phenotype Ontology C4551584 HP:0012444 16 Feb 2016 Finding brain cancer CN235589 19 Mar 2016 Finding Brain compression MONDO C0009592 MONDO:0001291 17 Apr 2020 Disease Brain disease MONDO MONDO:0005560 17 Apr 2020 Disease Brain dopamine-serotonin vesicular transport disease C4303546 22 Aug 2019 Disease Brain germinoma MONDO C1332606 MONDO:0002214 17 Apr 2020 Disease Brain glioblastoma MONDO C0349543 MONDO:0002501 17 Apr 2020 Disease Brain hemangioma MONDO C0238814 MONDO:0003428 17 Apr 2020 Disease Brain hypoxia - ischemia MONDO MONDO:0006685 17 Apr 2020 Disease Brain imaging abnormality 07 May 2020 Finding Brain infarction MONDO C0751955 MONDO:0005394 17 Apr 2020 Disease Brain inflammatory disease MONDO CN197488 MONDO:0015144 17 Apr 2020 Disease Brain injury MONDO MONDO:0043510 17 Apr 2020 Disease Brain iron accummulation CN228270 16 Feb 2016 Finding Brain iron overload 03 Aug 2017 Finding Brain malformation C0266449 16 Feb 2016 Finding Brain malformations CN263065 29 Aug 2017 Finding Brain malformations and urinary tract defects NCBI curation C4478940 613735 20 Jun 2017 Disease Brain meningioma MONDO MONDO:0000642 17 Apr 2020 Disease Brain MRI positive CN232551 16 Feb 2016 Finding Brain MRI positive _ Allergy/Immunologic/Infectious (child onset) CN232472 16 Feb 2016 Finding Brain MRI positive _ Audiologic/Otolaryngologic (child onset) CN232489 16 Feb 2016 Finding Brain MRI positive _ Cardiovascular (child onset) CN232496 16 Feb 2016 Finding Brain MRI positive _ Craniofacial (child onset) CN232497 16 Feb 2016 Finding Brain MRI positive _ Dermatologic (child onset) CN232498 16 Feb 2016 Finding Brain MRI positive _ Gastrointestinal (child onset) CN232499 16 Feb 2016 Finding Brain MRI positive _ Musculoskeletal/Structural (child onset) CN232500 16 Feb 2016 Finding Brain MRI positive _ Neurologic (child onset) CN232501 16 Feb 2016 Finding Brain MRI positive _ Ophthalmologic (child onset) CN232502 16 Feb 2016 Finding Brain MRI positive, Multiple congenital anomalies, MR/ID/DD _ Oncologic (child onset), Hematologic (child onset), Musculoskeletal/Structural (child onset), Dental (child onset), Craniofacial (child onset), Neurologic (child onset) CN230176 16 Feb 2016 Finding Brain MRI with iron accumulation 25 Jan 2019 Finding Brain Neoplasms PharmGKB 06 Jul 2018 Disease Brain oligodendroglioma MONDO C0346286 MONDO:0002544 17 Apr 2020 Disease Brain pseudoatrophy, reversible, valproate-induced, susceptibility to NCBI curation C3888025 16 Feb 2016 Disease Brain revealed white matter changes in the frontoparietal region 20 Jun 2019 Finding Brain sarcoma MONDO C1332607 MONDO:0002216 17 Apr 2020 Disease Brain small vessel disease 1 with or without ocular anomalies NCBI curation C4551998 175780 06 Jan 2020 Disease BRAIN SMALL VESSEL DISEASE 3 OMIM C5193053 618360 618360 23 Mar 2019 Disease Brain small vessel disease with axenfeld-rieger anomaly NCBI curation C2675650 16 Feb 2016 Disease Brain small vessel disease with hemorrhage NCBI curation CN029315 16 Feb 2016 Disease Brain stem astrocytic neoplasm MONDO C1332608 MONDO:0003173 17 Apr 2020 Disease Brain stem cancer 16 Feb 2016 Disease Brain stem compression Human Phenotype Ontology C0270680 HP:0002512 16 Feb 2016 Finding Brain stem ependymoma MONDO C1332609 MONDO:0003477 17 Apr 2020 Disease Brain stem hemangioblastoma MONDO C1332611 MONDO:0003902 17 Apr 2020 Disease Brain stem infarction MONDO C0521542 MONDO:0006686 17 Apr 2020 Disease Brain stem medulloblastoma MONDO MONDO:0000517 17 Apr 2020 Disease Brain structural anomaly CN228395 16 Feb 2016 Finding Brain tumor, adult 16 Feb 2016 Disease Brain tumor, childhood 16 Feb 2016 Disease Brain tumor-polyposis syndrome 2 NCBI curation C2673218 16 Feb 2016 Disease Brain very small Human Phenotype Ontology HP:0001322 16 Feb 2016 Finding Brainstem cancer MONDO MONDO:0002912 17 Apr 2020 Disease Brainstem dysplasia Human Phenotype Ontology C1855677 HP:0002508 16 Feb 2016 Finding Brainstem glioma Human Phenotype Ontology C0677865 HP:0010796 16 Feb 2016 Finding Brainstem intraparenchymal clear cell meningioma MONDO C1332612 MONDO:0002916 17 Apr 2020 Disease Brainstem neoplasm MONDO MONDO:0021228 17 Apr 2020 Disease Branch retinal artery occlusion MONDO C0006123 MONDO:0001630 17 Apr 2020 Disease Branched-chain aminotransferase 1 deficiency CN235219 19 Feb 2016 Disease Branched-chain aminotransferase 2 deficiency CN235213 19 Feb 2016 Disease Branched-chain keto acid dehydrogenase kinase deficiency NCBI curation C3554078 614923 24 Aug 2016 Disease Branchial anomaly Human Phenotype Ontology C1862066 HP:0009794 16 Feb 2016 Finding Branchial arch defects 16 Feb 2016 Disease Branchial arch disease MONDO MONDO:0022606 17 Apr 2020 Disease Branchial arch or oral-acral syndrome MONDO CN199364 MONDO:0015334 17 Apr 2020 Disease Branchial cleft cyst Human Phenotype Ontology C0079037 HP:0009796 113600 10 Apr 2018 Disease Branchial cysts NCBI curation 16 Feb 2016 Disease Branchial fistula Human Phenotype Ontology C0546968 HP:0009795 16 Feb 2016 Finding Branchial myoclonus with spastic paraparesis and cerebellar ataxia NCBI curation C1862071 113610 16 Feb 2016 Disease Branchial sinus Human Phenotype Ontology C0266624 HP:0100272 16 Feb 2016 Finding Branchiogenic-deafness syndrome NCBI curation C1836673 609166 16 Feb 2016 Disease Branchiooculofacial syndrome C0376524 113620 16 Feb 2016 Disease Branchiootic syndrome C1865143 602588 16 Feb 2016 Disease Branchiootic syndrome 2 NCBI curation C1852718 120502 16 Feb 2016 Disease Branchiootic syndrome 3 NCBI curation C1842124 608389 16 Feb 2016 Disease Branchiootorenal (BOR) syndrome CN257767 02 Nov 2018 Disease Branchiootorenal Spectrum Disorders CN043574 16 Feb 2016 Disease Branchiootorenal syndrome 2 NCBI curation C1970479 610896 16 Feb 2016 Disease Branchiootorenal syndrome with cataract NCBI curation C4016752 16 Feb 2016 Disease Brawny scleritis MONDO C0155356 MONDO:0001936 17 Apr 2020 Disease Brazilian hemorrhagic fever MONDO C0343633 MONDO:0017877 04 Jun 2020 Infectious disease BRCA2-Related Disorders CN239275 02 Dec 2016 Disease Breast abscess MONDO C0151463 MONDO:0000749 17 Apr 2020 Disease Breast adenocarcinoma NCBI curation C0858252 16 Feb 2016 Disease Breast adenoma MONDO C1328385 MONDO:0002058 17 Apr 2020 Disease Breast adenomyoepithelial adenosis MONDO C1511283 MONDO:0004181 17 Apr 2020 Disease Breast adenomyoepithelioma MONDO C1510795 MONDO:0002066 17 Apr 2020 Disease Breast adenosis MONDO C0085750 MONDO:0003725 17 Apr 2020 Disease Breast and colorectal cancer CN221560 16 Feb 2016 Disease Breast and colorectal cancer, susceptibility to NCBI curation C1858433 16 Feb 2016 Disease Breast and Ovarian Cancer Susceptibility CN239207 02 Dec 2016 Disease Breast and/or ovarian cancer CN221562 16 Feb 2016 Disease Breast angiomatosis MONDO C1511284 MONDO:0002064 17 Apr 2020 Disease Breast angiosarcoma MONDO C1332614 MONDO:0003024 17 Apr 2020 Disease Breast aplasia Human Phenotype Ontology C0266009 HP:0100783 16 Feb 2016 Finding Breast apocrine adenoma MONDO C1388299 MONDO:0004273 17 Apr 2020 Disease Breast apocrine carcinoma MONDO C1332316 MONDO:0003934 17 Apr 2020 Disease Breast apocrine carcinoma in situ MONDO C1332315 MONDO:0004562 17 Apr 2020 Disease Breast benign neoplasm MONDO MONDO:0000620 17 Apr 2020 Disease breast cancer CN235590 19 Mar 2016 Finding Breast cancer 3 NCBI curation C1854365 16 Feb 2016 Disease Breast cancer, 11-22 translocation-associated NCBI curation 16 Feb 2016 Disease Breast cancer, childhood 16 Feb 2016 Disease Breast cancer, early-onset NCBI curation C4016951 16 Feb 2016 Disease Breast cancer, familial 3 NCBI curation 16 Feb 2016 Disease Breast cancer, familial male NCBI curation C1861906 16 Feb 2016 Disease Breast cancer, invasive, susceptibility to NCBI curation 16 Feb 2016 Disease Breast cancer, lobular NCBI curation CN178073 16 Feb 2016 Disease Breast cancer, post-chemotherapy poor survival in NCBI curation C2675722 16 Feb 2016 Disease Breast cancer, post-chemotherapy survival in NCBI curation 16 Feb 2016 Disease Breast cancer, protection against NCBI curation C4016759 16 Feb 2016 Disease Breast cancer, susceptibility to NCBI curation C3469522 16 Feb 2016 Disease Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers NCBI curation 16 Feb 2016 Disease BREAST CANCER-RELATED REGULATOR OF TP53 OMIM CN615279 113721 113721 15 Nov 2017 Disease Breast capillary hemangioma MONDO C1332619 MONDO:0003896 17 Apr 2020 Disease Breast carcinoma Human Phenotype Ontology C0678222 HP:0003002 16 Feb 2016 Finding Breast carcinoma by gene expression profile MONDO C3642344 MONDO:0006116 17 Apr 2020 Disease Breast carcinoma in situ MONDO C0154084 MONDO:0004658 17 Apr 2020 Disease Breast Carcinoma, ER+VE, PR+VE, Her2 -VE 23 May 2018 Finding Breast columnar cell mucinous carcinoma MONDO C1511305 MONDO:0004472 17 Apr 2020 Disease Breast cyst MONDO MONDO:0001011 17 Apr 2020 Disease Breast cystic hypersecretory carcinoma MONDO MONDO:0004269 17 Apr 2020 Disease Breast diffuse large B-cell lymphoma MONDO C1511306 MONDO:0006117 17 Apr 2020 Disease Breast disease MONDO C0006145 MONDO:0002657 17 Apr 2020 Disease Breast ductal adenocarcinoma MONDO MONDO:0005590 17 Apr 2020 Disease Breast ductal adenoma MONDO C1511307 MONDO:0004270 17 Apr 2020 Disease Breast epithelioid hemangioma MONDO C1332627 MONDO:0003897 17 Apr 2020 Disease Breast extraskeletal osteosarcoma MONDO C1335149 MONDO:0004360 17 Apr 2020 Disease Breast fibroadenosis MONDO C1305875 MONDO:0001012 17 Apr 2020 Disease Breast fibrocystic disease MONDO C0016034 MONDO:0005219 17 Apr 2020 Disease Breast fibroepithelial neoplasm MONDO C1511309 MONDO:0021046 17 Apr 2020 Disease Breast fibrosarcoma MONDO C1332630 MONDO:0003728 17 Apr 2020 Disease Breast fibrosis MONDO C0156318 MONDO:0006118 17 Apr 2020 Disease Breast giant fibroadenoma MONDO C0346157 MONDO:0004150 17 Apr 2020 Disease Breast granular cell tumor MONDO C1511312 MONDO:0002487 17 Apr 2020 Disease Breast hemangioma MONDO C0853715 MONDO:0003126 17 Apr 2020 Disease Breast hemangiopericytoma MONDO C1511313 MONDO:0003411 17 Apr 2020 Disease Breast hypertrophy Human Phenotype Ontology C0020565 HP:0010313 16 Feb 2016 Finding Breast hypoplasia Human Phenotype Ontology C0266013 HP:0003187 16 Feb 2016 Finding Breast intracanalicular fibroadenoma MONDO C0334496 MONDO:0002377 17 Apr 2020 Disease Breast intraductal proliferative lesion MONDO C1334631 MONDO:0004007 17 Apr 2020 Disease Breast large cell neuroendocrine carcinoma MONDO C1511316 MONDO:0003959 17 Apr 2020 Disease Breast leiomyoma MONDO C1511317 MONDO:0002057 17 Apr 2020 Disease Breast leiomyosarcoma MONDO C1332631 MONDO:0003371 17 Apr 2020 Disease Breast lipoma MONDO C0349565 MONDO:0000970 17 Apr 2020 Disease Breast liposarcoma MONDO C1332632 MONDO:0003593 17 Apr 2020 Disease Breast lobular carcinoma MONDO MONDO:0000552 17 Apr 2020 Disease Breast lymphoma MONDO C1704251 MONDO:0003661 17 Apr 2020 Disease Breast malignant eccrine spiradenoma MONDO C1334565 MONDO:0004420 17 Apr 2020 Disease Breast milk jaundice NCBI curation C0270215 16 Feb 2016 Disease Breast mucinous carcinoma MONDO C1334807 MONDO:0002707 17 Apr 2020 Disease Breast mucinous cystadenocarcinoma MONDO C1511318 MONDO:0002705 17 Apr 2020 Disease Breast mucosa-associated lymphoid tissue lymphoma MONDO C1332633 MONDO:0006119 17 Apr 2020 Disease Breast myoepithelial tumor MONDO C1511319 MONDO:0002483 17 Apr 2020 Disease Breast myoepitheliosis MONDO C1513799 MONDO:0004262 17 Apr 2020 Disease Breast myofibroblastoma MONDO C1511320 MONDO:0002062 17 Apr 2020 Disease Breast neoplasm MONDO CN236627 MONDO:0021100 17 Apr 2020 Disease Breast Neoplasms;Carcinoma, Non-Small-Cell Lung;Neoplasms;Ovarian Neoplasms;Stomach Neoplasms PharmGKB 17 Feb 2017 Disease Breast Neoplasms;Neoplasms;Neutropenia;Ovarian Neoplasms;Stomach Neoplasms PharmGKB 17 Feb 2017 Disease Breast neuroendocrine neoplasm MONDO C1332635 MONDO:0002485 17 Apr 2020 Disease Breast papillary carcinoma MONDO MONDO:0003532 17 Apr 2020 Disease Breast papillomatosis MONDO C1332636 MONDO:0002063 17 Apr 2020 Disease Breast pericanalicular fibroadenoma MONDO C0334497 MONDO:0002371 17 Apr 2020 Disease Breast phyllodes tumor MONDO C0238031 MONDO:0021047 22 Apr 2020 Disease Breast rhabdomyosarcoma MONDO C1332637 MONDO:0002859 17 Apr 2020 Disease Breast sarcoma MONDO C0349667 MONDO:0002490 17 Apr 2020 Disease Breast secretory carcinoma MONDO C0334371 MONDO:0003208 22 Apr 2020 Disease breast symptoms 05 Sep 2019 Finding Breast synovial sarcoma MONDO MONDO:0006027 17 Apr 2020 Disease Breast tumor luminal A or B MONDO MONDO:0004990 17 Apr 2020 Disease Breast-ovarian cancer, familial 1 NCBI curation C2676676 604370 16 Feb 2016 Disease Breast-ovarian cancer, familial 2 NCBI curation C2675520 612555 16 Feb 2016 Disease Breast-ovarian cancer, familial 3 NCBI curation C3150659 613399 16 Feb 2016 Disease Breast-ovarian cancer, familial 4 NCBI curation C3280345 614291 16 Feb 2016 Disease Breastfeeding jaundice NCBI curation 16 Feb 2016 Disease Breasts and/or nipples, aplasia or hypoplasia of, 2 NCBI curation C4014918 616001 16 Feb 2016 Disease Breath-holding spells NCBI curation C0476287 607578 16 Feb 2016 Disease Breathing dysregulation Human Phenotype Ontology C3808046 HP:0005957 16 Feb 2016 Finding Breech presentation Human Phenotype Ontology C0006157 HP:0001623 16 Feb 2016 Finding Brenner tumor MONDO C4551593 MONDO:0024235 17 Apr 2020 Disease Brexpiprazole Response CN282544 17 Jun 2020 Pharmacological response Bridged palmar crease Human Phenotype Ontology C4021166 HP:0011310 16 Feb 2016 Finding Bright green eyes CN235514 15 Mar 2016 Finding Brill-Zinsser disease MONDO C0006181 MONDO:0005680 04 Jun 2020 Infectious disease BRIP1-Related Disorders CN239206 02 Dec 2016 Disease Brisk reflexes Human Phenotype Ontology C2673700 HP:0001348 16 Feb 2016 Finding British HPFH NCBI curation C4017538 06 Mar 2016 Disease Brittle bone disorder NCBI curation C1859069 603828 16 Feb 2016 Disease Brittle bone syndrome lethal type 16 Feb 2016 Disease Brittle cornea syndrome OMIM phenotypic series CN263128 PS229200 11 Jan 2020 Disease Brittle cornea syndrome 1 NCBI curation C0268344 229200 11 Jan 2020 Disease Brittle cornea syndrome 2 NCBI curation C3280011 614170 16 Feb 2016 Disease Brittle hair Human Phenotype Ontology C0263490 HP:0002299 16 Feb 2016 Finding Brittle scalp hair Human Phenotype Ontology C4025296 HP:0004779 16 Feb 2016 Finding Brivaracetam response NCBI curation CN781941 01 Feb 2018 Pharmacological response Broad 1st metacarpal Human Phenotype Ontology C4024097 HP:0010027 16 Feb 2016 Finding Broad 2nd toe Human Phenotype Ontology C4022381 HP:0100040 16 Feb 2016 Finding Broad 3rd toe Human Phenotype Ontology C4022380 HP:0100041 16 Feb 2016 Finding Broad 4th toe Human Phenotype Ontology C4022379 HP:0100042 16 Feb 2016 Finding Broad 5th toe Human Phenotype Ontology C4022378 HP:0100043 16 Feb 2016 Finding Broad alveolar ridges Human Phenotype Ontology C1857500 HP:0000187 16 Feb 2016 Finding Broad carpal bones Human Phenotype Ontology C3554618 HP:0004242 16 Feb 2016 Finding Broad chin Human Phenotype Ontology C4023172 HP:0011822 16 Feb 2016 Finding Broad clavicles Human Phenotype Ontology C0426801 HP:0000916 16 Feb 2016 Finding Broad columella Human Phenotype Ontology C1851059 HP:0010761 16 Feb 2016 Finding Broad diaphyses of the upper limbs Human Phenotype Ontology C4021718 HP:0003861 16 Feb 2016 Finding Broad distal hallux Human Phenotype Ontology C1863403 HP:0008111 16 Feb 2016 Finding Broad distal phalanges of all fingers Human Phenotype Ontology C4024174 HP:0009880 16 Feb 2016 Finding Broad distal phalanx of finger Human Phenotype Ontology C1850630 HP:0009836 16 Feb 2016 Finding Broad distal phalanx of the 2nd finger Human Phenotype Ontology C4024293 HP:0009558 16 Feb 2016 Finding Broad distal phalanx of the 2nd toe Human Phenotype Ontology C4023842 HP:0010414 16 Feb 2016 Finding Broad distal phalanx of the 3rd finger Human Phenotype Ontology C4024373 HP:0009422 16 Feb 2016 Finding Broad distal phalanx of the 3rd toe Human Phenotype Ontology C4022096 HP:0100431 16 Feb 2016 Finding Broad distal phalanx of the 4th finger Human Phenotype Ontology C4024464 HP:0009292 16 Feb 2016 Finding Broad distal phalanx of the 4th toe Human Phenotype Ontology C4022095 HP:0100432 16 Feb 2016 Finding Broad distal phalanx of the 5th finger Human Phenotype Ontology C4024506 HP:0009240 16 Feb 2016 Finding Broad distal phalanx of the 5th toe Human Phenotype Ontology C4022094 HP:0100433 16 Feb 2016 Finding Broad distal phalanx of the hallux Human Phenotype Ontology C4024068 HP:0010077 16 Feb 2016 Finding Broad distal phalanx of the thumb Human Phenotype Ontology C1863402 HP:0009642 16 Feb 2016 Finding Broad distal phalanx of the toes Human Phenotype Ontology C4023980 HP:0010186 16 Feb 2016 Finding Broad eyebrow Human Phenotype Ontology C1856121 HP:0011229 16 Feb 2016 Finding Broad face Human Phenotype Ontology C1859680 HP:0000283 16 Feb 2016 Finding Broad femoral head Human Phenotype Ontology C4024619 HP:0008804 16 Feb 2016 Finding Broad femoral metaphyses Human Phenotype Ontology C1864854 HP:0006417 16 Feb 2016 Finding Broad femoral neck Human Phenotype Ontology C1849016 HP:0006429 16 Feb 2016 Finding Broad finger Human Phenotype Ontology C1844906 HP:0001500 16 Feb 2016 Finding Broad fingertip Human Phenotype Ontology C1968816 HP:0011300 16 Feb 2016 Finding Broad first metatarsal Human Phenotype Ontology C1855899 HP:0010068 16 Feb 2016 Finding Broad foot Human Phenotype Ontology C1866241 HP:0001769 16 Feb 2016 Finding Broad forearm bones Human Phenotype Ontology C4021700 HP:0003971 16 Feb 2016 Finding Broad forehead Human Phenotype Ontology C1849089 HP:0000337 16 Feb 2016 Finding Broad hallux Human Phenotype Ontology C1867131 HP:0010055 16 Feb 2016 Finding Broad hallux phalanx Human Phenotype Ontology C4021343 HP:0010059 16 Feb 2016 Finding Broad humeral epiphyseal plate Human Phenotype Ontology C4021708 HP:0003906 16 Feb 2016 Finding Broad humeral epiphyses Human Phenotype Ontology C4021710 HP:0003903 16 Feb 2016 Finding Broad inferior crus of antihelix Human Phenotype Ontology C4021196 HP:0011237 16 Feb 2016 Finding Broad ischia Human Phenotype Ontology C1836868 HP:0100865 16 Feb 2016 Finding Broad jaw Human Phenotype Ontology C3281059 HP:0012802 16 Feb 2016 Finding Broad lateral eyebrow Human Phenotype Ontology C1837733 HP:0007933 16 Feb 2016 Finding Broad ligament malignant neoplasm MONDO C0346866 MONDO:0001108 17 Apr 2020 Disease Broad long bone diaphyses Human Phenotype Ontology C4025053 HP:0006371 16 Feb 2016 Finding Broad long bones Human Phenotype Ontology C4021630 HP:0005622 16 Feb 2016 Finding Broad metacarpal epiphyses Human Phenotype Ontology C4025088 HP:0006146 16 Feb 2016 Finding Broad metacarpals Human Phenotype Ontology C1842229 HP:0001230 16 Feb 2016 Finding Broad metatarsal Human Phenotype Ontology C1842231 HP:0001783 16 Feb 2016 Finding Broad middle phalanges of the toes Human Phenotype Ontology C4023975 HP:0010195 16 Feb 2016 Finding Broad middle phalanx of finger Human Phenotype Ontology C4021383 HP:0009844 16 Feb 2016 Finding Broad middle phalanx of the 2nd finger Human Phenotype Ontology C4024288 HP:0009569 16 Feb 2016 Finding Broad middle phalanx of the 2nd toe Human Phenotype Ontology C4023850 HP:0010405 16 Feb 2016 Finding Broad middle phalanx of the 3rd finger Human Phenotype Ontology C4021476 HP:0009430 16 Feb 2016 Finding Broad middle phalanx of the 3rd toe Human Phenotype Ontology C4022102 HP:0100425 16 Feb 2016 Finding Broad middle phalanx of the 4th finger Human Phenotype Ontology C4024463 HP:0009293 16 Feb 2016 Finding Broad middle phalanx of the 4th toe Human Phenotype Ontology C4022101 HP:0100426 16 Feb 2016 Finding Broad middle phalanx of the 5th finger Human Phenotype Ontology C4021517 HP:0009169 16 Feb 2016 Finding Broad middle phalanx of the 5th toe Human Phenotype Ontology C4022100 HP:0100427 16 Feb 2016 Finding Broad nail Human Phenotype Ontology C1843112 HP:0001821 16 Feb 2016 Finding Broad nasal tip Human Phenotype Ontology C0426429 HP:0000455 16 Feb 2016 Finding Broad neck Human Phenotype Ontology C1853638 HP:0000475 16 Feb 2016 Finding Broad palm Human Phenotype Ontology C0264142 HP:0001169 16 Feb 2016 Finding Broad phalanges of the 2nd finger Human Phenotype Ontology C4021444 HP:0009547 16 Feb 2016 Finding Broad phalanges of the 2nd toe Human Phenotype Ontology C4023889 HP:0010348 16 Feb 2016 Finding Broad phalanges of the 3rd finger Human Phenotype Ontology C4021473 HP:0009440 16 Feb 2016 Finding Broad phalanges of the 3rd toe Human Phenotype Ontology C4023881 HP:0010360 16 Feb 2016 Finding Broad phalanges of the 4th finger Human Phenotype Ontology C4024387 HP:0009404 16 Feb 2016 Finding Broad phalanges of the 4th toe Human Phenotype Ontology C4023874 HP:0010372 16 Feb 2016 Finding Broad phalanges of the 5th finger Human Phenotype Ontology C4024412 HP:0009374 16 Feb 2016 Finding Broad phalanges of the 5th toe Human Phenotype Ontology C4023866 HP:0010384 16 Feb 2016 Finding Broad phalanges of the hand Human Phenotype Ontology C4021391 HP:0009768 16 Feb 2016 Finding Broad phalanx Human Phenotype Ontology C1855185 HP:0006009 16 Feb 2016 Finding Broad phalanx of the toes Human Phenotype Ontology C4023986 HP:0010174 16 Feb 2016 Finding Broad philtrum Human Phenotype Ontology C1854111 HP:0000289 16 Feb 2016 Finding Broad proximal phalanges of the hand Human Phenotype Ontology C4024181 HP:0009852 16 Feb 2016 Finding Broad proximal phalanx of the 2nd finger Human Phenotype Ontology C4021434 HP:0009581 16 Feb 2016 Finding Broad proximal phalanx of the 2nd toe Human Phenotype Ontology C4023858 HP:0010396 16 Feb 2016 Finding Broad proximal phalanx of the 3rd finger Human Phenotype Ontology C4024355 HP:0009450 16 Feb 2016 Finding Broad proximal phalanx of the 3rd toe Human Phenotype Ontology C4022099 HP:0100428 16 Feb 2016 Finding Broad proximal phalanx of the 4th finger Human Phenotype Ontology C4020660 HP:0009310 16 Feb 2016 Finding Broad proximal phalanx of the 4th toe Human Phenotype Ontology C4022098 HP:0100429 16 Feb 2016 Finding Broad proximal phalanx of the 5th finger Human Phenotype Ontology C4021508 HP:0009227 16 Feb 2016 Finding Broad proximal phalanx of the 5th toe Human Phenotype Ontology C4022097 HP:0100430 16 Feb 2016 Finding Broad proximal phalanx of the hallux Human Phenotype Ontology C4021338 HP:0010086 16 Feb 2016 Finding Broad proximal phalanx of the thumb Human Phenotype Ontology C4024267 HP:0009630 16 Feb 2016 Finding Broad proximal phalanx of toe Human Phenotype Ontology C4023971 HP:0010204 16 Feb 2016 Finding Broad radial diaphysis Human Phenotype Ontology C4021690 HP:0004031 16 Feb 2016 Finding Broad radial epiphyseal plate Human Phenotype Ontology C4021693 HP:0004014 16 Feb 2016 Finding Broad radial metaphysis Human Phenotype Ontology C4021691 HP:0004026 16 Feb 2016 Finding Broad radius Human Phenotype Ontology C4021698 HP:0003981 16 Feb 2016 Finding Broad ribs Human Phenotype Ontology C1848654 HP:0000885 16 Feb 2016 Finding Broad secondary alveolar ridge Human Phenotype Ontology C1839276 HP:0000216 16 Feb 2016 Finding Broad skull Human Phenotype Ontology C0424693 HP:0002682 16 Feb 2016 Finding Broad terminal phalanges, familial NCBI curation C1865923 602071 16 Feb 2016 Disease Broad thumb Human Phenotype Ontology C0426891 HP:0011304 16 Feb 2016 Finding Broad tibial metaphyses Human Phenotype Ontology C2678328 HP:0006413 16 Feb 2016 Finding Broad toe Human Phenotype Ontology C1865038 HP:0001837 16 Feb 2016 Finding broad toes 22 Aug 2019 Finding Broad ulna Human Phenotype Ontology C4025460 HP:0003993 16 Feb 2016 Finding Broad uvula Human Phenotype Ontology C3693299 HP:0010809 16 Feb 2016 Finding Broad webbed neck CN235515 15 Mar 2016 Finding Broad xiphoid process Human Phenotype Ontology C4020901 HP:0100894 16 Feb 2016 Finding Broad-based gait Human Phenotype Ontology C0856863 HP:0002136 16 Feb 2016 Finding Broad-betalipoproteinemia 16 Feb 2016 Disease Brody myopathy C1832918 601003 16 Feb 2016 Disease Bronchial adenomas/carcinoids childhood 16 Feb 2016 Disease Bronchial atresia Human Phenotype Ontology C0265776 HP:0030715 02 Apr 2017 Finding Bronchial cartilage hypoplasia Human Phenotype Ontology C4025024 HP:0006539 16 Feb 2016 Finding Bronchial isomerism Human Phenotype Ontology C4531037 HP:0031564 04 Apr 2018 Finding Bronchial neoplasm Human Phenotype Ontology C0006264 HP:0030077 16 Feb 2016 Finding Bronchiectasis OMIM phenotypic series C0006267 PS211400 20 Nov 2016 Disease Bronchiectasis Human Phenotype Ontology C0006267 HP:0002110 20 Nov 2016 Disease Bronchiectasis oligospermia 16 Feb 2016 Disease Bronchiectasis with or without elevated sweat chloride 1 NCBI curation C2749757 211400 20 Nov 2016 Disease Bronchiectasis with or without elevated sweat chloride 1, modifier of NCBI curation CN258830 16 Feb 2016 Disease Bronchiectasis with or without elevated sweat chloride 2 NCBI curation C2751666 613021 16 Feb 2016 Disease Bronchiectasis with or without elevated sweat chloride 3 NCBI curation C2751324 613071 16 Feb 2016 Disease Bronchiolitis Human Phenotype Ontology C0006271 HP:0011950 16 Feb 2016 Finding Bronchiolitis obliterans organizing pneumonia Human Phenotype Ontology C0242770 HP:0011945 16 Feb 2016 Disease Bronchiolitis obliterans with obstructive pulmonary disease MONDO C0006272 MONDO:0015265 17 Apr 2020 Infectious disease Bronchitis Human Phenotype Ontology C0006277 HP:0012387 16 Feb 2016 Finding Bronchodysplasia Human Phenotype Ontology C4025025 HP:0006533 16 Feb 2016 Finding Bronchogenic carcinoma MONDO C0007121 MONDO:0002806 17 Apr 2020 Disease Bronchogenic cyst (disease) MONDO C0006281 MONDO:0016523 17 Apr 2020 Disease Bronchomalacia Human Phenotype Ontology C0264353 HP:0002780 16 Feb 2016 Finding Bronchomegaly Human Phenotype Ontology C4023706 HP:0010777 16 Feb 2016 Finding Bronchopneumonia C0006285 13 Mar 2020 Disease Bronchopulmonary dysplasia of newborn C0006287 16 Feb 2016 Disease Bronchopulmonary sequestration Human Phenotype Ontology C0006288 HP:0010960 16 Feb 2016 Finding Bronchospasm Human Phenotype Ontology C0006266 HP:0025428 04 Apr 2018 Finding Bronchus adenoma MONDO C0149845 MONDO:0003427 17 Apr 2020 Disease Bronchus cancer MONDO MONDO:0001672 17 Apr 2020 Disease Bronchus carcinoma in situ MONDO C2939445 MONDO:0000375 17 Apr 2020 Disease Bronchus mucoepidermoid carcinoma MONDO MONDO:0000531 17 Apr 2020 Disease Brooke-Spiegler syndrome MONDO C1857941 MONDO:0011512 605041 22 Apr 2020 Disease Brooks Wisniewski Brown syndrome C0796272 16 Feb 2016 Disease Brown oculocutaneous albinism NCBI curation C0268497 16 Feb 2016 Disease Brown pigment gallstones Human Phenotype Ontology C4023097 HP:0011983 16 Feb 2016 Finding Brown shrimp allergy MONDO MONDO:0000800 17 Apr 2020 Disease Brown syndrome NCBI curation C0155339 616407 16 Feb 2016 Disease brown urine 24 Jul 2018 Finding Brown-Séquard syndrome 16 Feb 2016 Disease Brown-Vialetto-Van Laere syndrome OMIM phenotypic series C0796274 PS211530 10 Jun 2016 Disease Brown-Vialetto-Van Laere syndrome 1 NCBI curation CN029849 211530 10 Jun 2016 Disease Brown-Vialetto-Van Laere syndrome 2 NCBI curation C3553538 614707 16 Feb 2016 Disease Brucella abortus brucellosis MONDO C0302363 MONDO:0001973 04 Jun 2020 Infectious disease Brucella canis brucellosis MONDO C0494040 MONDO:0001857 04 Jun 2020 Infectious disease Brucella melitensis brucellosis MONDO C0302362 MONDO:0001972 04 Jun 2020 Infectious disease Brucella suis brucellosis MONDO C0275594 MONDO:0001190 04 Jun 2020 Infectious disease Brucellosis C0006309 16 Feb 2016 Infectious disease Bruck Syndrome C0432253 02 Dec 2016 Disease Bruck syndrome 1 C1850168 259450 16 Feb 2016 Disease Bruck syndrome 2 C1836602 609220 16 Feb 2016 Disease Brugada pattern ECG type 1 17 Oct 2019 Finding Brugada syndrome OMIM phenotypic series C1142166 PS601144 16 Feb 2016 Disease Brugada syndrome (shorter-than-normal QT interval) CN221547 16 Feb 2016 Disease Brugada syndrome 1 NCBI curation C4551804 601144 25 May 2016 Disease Brugada syndrome 2 NCBI curation C2673193 611777 16 Feb 2016 Disease Brugada syndrome 3 NCBI curation C2678478 611875 26 Jun 2020 Disease Brugada syndrome 4 C2678477 611876 16 Feb 2016 Disease Brugada syndrome 5 NCBI curation C2748541 612838 16 Feb 2016 Disease Brugada syndrome 6 NCBI curation C2751089 613119 16 Feb 2016 Disease Brugada syndrome 7 NCBI curation C2751088 613120 16 Feb 2016 Disease Brugada syndrome 8 NCBI curation C2751083 613123 05 Jun 2016 Disease Brugada syndrome 9 NCBI curation C4225340 616399 16 Feb 2016 Disease Brugada syndrome, lidocaine-induced CN221573 16 Feb 2016 Disease Brugada syndrome, phenotype modifier ? NCBI curation 16 Feb 2016 Disease Brugada syndrome,Long QT syndrome NCBI curation 16 Feb 2016 Disease Bruising susceptibility Human Phenotype Ontology C0423798 HP:0000978 16 Feb 2016 Finding Brunner syndrome MONDO C0796275 MONDO:0010379 300615 22 Apr 2020 Disease Brunoni syndrome C2931486 16 Feb 2016 Disease Brunsting-Perry syndrome 16 Feb 2016 Disease Brushfield spots Human Phenotype Ontology C1303007 HP:0001088 16 Feb 2016 Finding Bruxism Human Phenotype Ontology C0006325 HP:0003763 16 Feb 2016 Finding Bruxism (disease) MONDO MONDO:0002443 17 Apr 2020 Disease Bruyn Scheltens syndrome 16 Feb 2016 Disease BRWD3-Related Disorder 29 Aug 2019 Disease Bubonic plague C0282312 16 Feb 2016 Infectious disease Buccal mucosa neoplasm MONDO C0345563 MONDO:0021241 17 Apr 2020 Disease Budd-Chiari syndrome Human Phenotype Ontology C0856761 HP:0002639 600880 16 Feb 2016 Disease Budd-Chiari syndrome, susceptibility to NCBI curation 16 Feb 2016 Disease Budd-Chiari syndrome, susceptibility to, somatic NCBI curation 16 Feb 2016 Disease budesonide response - Efficacy PharmGKB CN236488 827864250 18 May 2016 Pharmacological response Bulbar conjunctival dermoid or conjunctival dermolipoma MONDO MONDO:0020205 17 Apr 2020 Disease bulbar dysfunction emerged 13 Feb 2020 Finding Bulbar palsy Human Phenotype Ontology C4082299 HP:0001283 16 Feb 2016 Finding Bulbar polio MONDO C0032372 MONDO:0005684 04 Jun 2020 Infectious disease Bulbar signs Human Phenotype Ontology C1856507 HP:0002483 16 Feb 2016 Finding Bulbar urethral stricture Human Phenotype Ontology C4476765 HP:0025415 04 Apr 2018 Finding Bulbo-spinal atrophy X-linked C1839259 313200 16 Feb 2016 Disease Bulbomembranous urethral cancer MONDO C1511339 MONDO:0004516 17 Apr 2020 Disease Bulbospinal amyotrophy, X-linked 16 Feb 2016 Disease Bulbospinal muscular atrophy of adulthood MONDO CN261244 MONDO:0016115 17 Apr 2020 Disease Bulbospinal muscular atrophy of childhood MONDO CN261692 MONDO:0016114 17 Apr 2020 Disease Bulbospinal polio MONDO CN281934 MONDO:0000340 04 Jun 2020 Infectious disease Bulbous nose Human Phenotype Ontology C0240543 HP:0000414 16 Feb 2016 Finding Bulbous tips of toes Human Phenotype Ontology C4025747 HP:0001782 16 Feb 2016 Finding Bulging epiphyses Human Phenotype Ontology C1833329 HP:0003013 16 Feb 2016 Finding Bulging of the costochondral junction Human Phenotype Ontology C1848538 HP:0000893 16 Feb 2016 Finding Bulimia Human Phenotype Ontology C0006370 HP:0100739 16 Feb 2016 Finding Bulimia nervosa MONDO C2267227 MONDO:0005452 17 Apr 2020 Disease Bulimia nervosa, age of onset of weight loss in NCBI curation 16 Feb 2016 Disease BULIMIA NERVOSA, SUSCEPTIBILITY TO, 1 C1843776 27 Apr 2018 Disease Bulimia nervosa, susceptibility to, 2 MONDO MONDO:0012461 17 Apr 2020 Disease Bull's eye macular dystrophy NCBI curation C0339512 608051 16 Feb 2016 Disease Bull's eye maculopathy NCBI curation C1828210 153870 16 Feb 2016 Disease Bull's eye rash Human Phenotype Ontology C4551694 HP:0040325 04 Apr 2018 Finding Bullet-shaped 1st metacarpal Human Phenotype Ontology C4024096 HP:0010028 16 Feb 2016 Finding Bullet-shaped 1st metatarsal Human Phenotype Ontology C4024075 HP:0010069 16 Feb 2016 Finding Bullet-shaped 2nd toe phalanx Human Phenotype Ontology C4021289 HP:0010349 16 Feb 2016 Finding Bullet-shaped 3rd toe phalanx Human Phenotype Ontology C4021285 HP:0010361 16 Feb 2016 Finding Bullet-shaped 4th toe phalanx Human Phenotype Ontology C4021281 HP:0010373 16 Feb 2016 Finding Bullet-shaped 5th toe phalanx Human Phenotype Ontology C4021277 HP:0010385 16 Feb 2016 Finding Bullet-shaped distal phalanges of the hand Human Phenotype Ontology C4024189 HP:0009837 16 Feb 2016 Finding Bullet-shaped distal phalanx of the 2nd finger Human Phenotype Ontology C4024292 HP:0009559 16 Feb 2016 Finding Bullet-shaped distal phalanx of the 2nd toe Human Phenotype Ontology C4023841 HP:0010415 16 Feb 2016 Finding Bullet-shaped distal phalanx of the 3rd finger Human Phenotype Ontology C4024372 HP:0009423 16 Feb 2016 Finding Bullet-shaped distal phalanx of the 3rd toe Human Phenotype Ontology C4022087 HP:0100440 16 Feb 2016 Finding Bullet-shaped distal phalanx of the 4th finger Human Phenotype Ontology C4024458 HP:0009302 16 Feb 2016 Finding Bullet-shaped distal phalanx of the 4th toe Human Phenotype Ontology C4022086 HP:0100441 16 Feb 2016 Finding Bullet-shaped distal phalanx of the 5th finger Human Phenotype Ontology C4024505 HP:0009241 16 Feb 2016 Finding Bullet-shaped distal phalanx of the 5th toe Human Phenotype Ontology C4022085 HP:0100442 16 Feb 2016 Finding Bullet-shaped distal phalanx of the hallux Human Phenotype Ontology C4024067 HP:0010078 16 Feb 2016 Finding Bullet-shaped distal phalanx of the thumb Human Phenotype Ontology C4024260 HP:0009643 16 Feb 2016 Finding Bullet-shaped distal toe phalanx Human Phenotype Ontology C4021325 HP:0010187 16 Feb 2016 Finding Bullet-shaped hallux phalanx Human Phenotype Ontology C4021342 HP:0010060 16 Feb 2016 Finding Bullet-shaped middle phalanges of the hand Human Phenotype Ontology C4024187 HP:0009845 16 Feb 2016 Finding Bullet-shaped middle phalanx of the 2nd finger Human Phenotype Ontology C4024287 HP:0009570 16 Feb 2016 Finding Bullet-shaped middle phalanx of the 2nd toe Human Phenotype Ontology C4023849 HP:0010406 16 Feb 2016 Finding Bullet-shaped middle phalanx of the 3rd finger Human Phenotype Ontology C4024367 HP:0009431 16 Feb 2016 Finding Bullet-shaped middle phalanx of the 3rd toe Human Phenotype Ontology C4022093 HP:0100434 16 Feb 2016 Finding Bullet-shaped middle phalanx of the 4th finger Human Phenotype Ontology C4024462 HP:0009296 16 Feb 2016 Finding Bullet-shaped middle phalanx of the 4th toe Human Phenotype Ontology C4022092 HP:0100435 16 Feb 2016 Finding Bullet-shaped middle phalanx of the 5th finger Human Phenotype Ontology C4024560 HP:0009168 16 Feb 2016 Finding Bullet-shaped middle phalanx of the 5th toe Human Phenotype Ontology C4022091 HP:0100436 16 Feb 2016 Finding Bullet-shaped middle toe phalanx Human Phenotype Ontology C4021321 HP:0010196 16 Feb 2016 Finding Bullet-shaped phalanges of the 2nd finger Human Phenotype Ontology C4024300 HP:0009548 16 Feb 2016 Finding Bullet-shaped phalanges of the 3rd finger Human Phenotype Ontology C4024360 HP:0009441 16 Feb 2016 Finding Bullet-shaped phalanges of the 4th finger Human Phenotype Ontology C4024386 HP:0009405 16 Feb 2016 Finding Bullet-shaped phalanges of the 5th finger Human Phenotype Ontology C4024411 HP:0009375 16 Feb 2016 Finding Bullet-shaped phalanges of the hand Human Phenotype Ontology C1854952 HP:0009769 16 Feb 2016 Finding Bullet-shaped proximal phalanges of the hand Human Phenotype Ontology C4024180 HP:0009853 16 Feb 2016 Finding Bullet-shaped proximal phalanx of the 2nd finger Human Phenotype Ontology C4024280 HP:0009582 16 Feb 2016 Finding Bullet-shaped proximal phalanx of the 2nd toe Human Phenotype Ontology C4023857 HP:0010397 16 Feb 2016 Finding Bullet-shaped proximal phalanx of the 3rd finger Human Phenotype Ontology C4024354 HP:0009451 16 Feb 2016 Finding Bullet-shaped proximal phalanx of the 3rd toe Human Phenotype Ontology C4022090 HP:0100437 16 Feb 2016 Finding Bullet-shaped proximal phalanx of the 4th finger Human Phenotype Ontology C4024451 HP:0009311 16 Feb 2016 Finding Bullet-shaped proximal phalanx of the 4th toe Human Phenotype Ontology C4022089 HP:0100438 16 Feb 2016 Finding Bullet-shaped proximal phalanx of the 5th finger Human Phenotype Ontology C4024516 HP:0009228 16 Feb 2016 Finding Bullet-shaped proximal phalanx of the 5th toe Human Phenotype Ontology C4022088 HP:0100439 16 Feb 2016 Finding Bullet-shaped proximal phalanx of the hallux Human Phenotype Ontology C4024060 HP:0010087 16 Feb 2016 Finding Bullet-shaped proximal phalanx of the thumb Human Phenotype Ontology C4024266 HP:0009631 16 Feb 2016 Finding Bullet-shaped proximal toe phalanx Human Phenotype Ontology C4021316 HP:0010205 16 Feb 2016 Finding Bullet-shaped thumb phalanx Human Phenotype Ontology C4021415 HP:0009652 16 Feb 2016 Finding Bullet-shaped toe phalanx Human Phenotype Ontology C4021331 HP:0010175 16 Feb 2016 Finding Bullous cutaneous amyloidosis C0268399 204900 16 Feb 2016 Disease Bullous diffuse cutaneous mastocytosis MONDO CN202760 MONDO:0017243 17 Apr 2020 Disease Bullous dystrophy, macular type MONDO C0795974 MONDO:0010540 302000 17 Apr 2020 Disease Bullous ichthyosiform erythroderma C0079153 113800 16 Feb 2016 Disease Bullous impetigo MONDO C0021100 MONDO:0018182 04 Jun 2020 Infectious disease Bullous keratopathy MONDO C0155111 MONDO:0001180 17 Apr 2020 Disease Bullous lichen planus MONDO C0023648 MONDO:0018056 17 Apr 2020 Disease Bullous pemphigoid C0030805 24 Jul 2019 Disease Bullous retinoschisis MONDO C0344289 MONDO:0001435 17 Apr 2020 Disease Bullous systemic lupus erythematosus MONDO C0409977 MONDO:0044113 17 Apr 2020 Disease Bundle branch block Human Phenotype Ontology C0006384 HP:0011710 16 Feb 2016 Finding BUNGAROTOXIN, ALPHA, RECEPTOR FOR OMIM CN263290 113955 113955 23 Feb 2020 Disease Bunyaviridae infectious disease MONDO CN281670 MONDO:0021641 04 Jun 2020 Infectious disease Buphthalmos NCBI curation C4551507 16 Feb 2016 Disease buprenorphine response - Dosage PharmGKB CN236489 1183574175 18 May 2016 Pharmacological response buprenorphine response - Dosage, Efficacy, Metabolism/PK PharmGKB 982034197PA448685 06 Jul 2018 Pharmacological response buprenorphine response - Efficacy PharmGKB 1449157278PA448685 28 Jun 2019 Pharmacological response Bupropion response NCBI curation CN227912 16 Feb 2016 Pharmacological response bupropion response - Efficacy PharmGKB CN236490 655385422 18 May 2016 Pharmacological response Buried teeth encased in mucopolysaccharide Human Phenotype Ontology C4025064 HP:0006326 16 Feb 2016 Finding Burkholderia infectious disease MONDO CN281898 MONDO:0043953 04 Jun 2020 Infectious disease Burkitt lymphoma Human Phenotype Ontology C0006413 HP:0030080 113970 06 Jul 2018 Disease Burkitt Lymphoma;Drug Toxicity;Lymphoma, T-Cell;Precursor Cell Lymphoblastic Leukemia-Lymphoma;Toxic liver disease PharmGKB 17 Feb 2017 Disease Burn MONDO MONDO:0043519 17 Apr 2020 Disease Burn Goodship syndrome 16 Feb 2016 Disease Burn-McKeown syndrome NCBI curation C1837822 608572 02 Aug 2016 Disease Burnett Schwartz Berberian syndrome 16 Feb 2016 Disease Burning mouth syndrome MONDO C0006430 MONDO:0006687 17 Apr 2020 Disease Burning mouth syndrome type 3 C2931487 16 Feb 2016 Disease Bursitis Human Phenotype Ontology C0006444 HP:0025232 02 Apr 2017 Finding Burst suppression and dypsarrhythmia, neonatal 23 Jan 2020 Finding Buruli ulcer C0085568 16 Feb 2016 Infectious disease Buruli ulcer, susceptibility to NCBI curation C1864868 610446 16 Feb 2016 Disease Buschke Lowenstein tumor 16 Feb 2016 Disease Bustos Simosa Pinto Cisternas syndrome 16 Feb 2016 Disease Busulfan response CN077962 16 Feb 2016 Pharmacological response Butterfly vertebrae Human Phenotype Ontology C1844752 HP:0003316 16 Feb 2016 Finding Butterfly vertebral arch Human Phenotype Ontology C1861627 HP:0004617 16 Feb 2016 Finding Butyrylcholinesterase activity NCBI curation 16 Feb 2016 Finding Butyrylcholinesterase deficiency, fluoride 1 NCBI curation 16 Feb 2016 Disease Butyrylcholinesterase deficiency, fluoride-resistant, japanese type NCBI curation C1867469 16 Feb 2016 Disease Butyrylesterase 1 NCBI curation C1861981 113960 16 Feb 2016 Disease Byssinosis C0006542 16 Feb 2016 Disease C PharmGKB 06 Jul 2018 Disease C syndrome C0796095 211750 16 Feb 2016 Disease C-P angle neurinoma MONDO C1332905 MONDO:0002551 17 Apr 2020 Disease C-reactive protein, serum level of, quantitative trait locus 1 NCBI curation C2677836 611920 16 Feb 2016 Disease C0019202 08 Apr 2020 Finding C1-C2 subluxation Human Phenotype Ontology C1848446 HP:0003320 16 Feb 2016 Finding C1-C2 vertebral abnormality Human Phenotype Ontology C4024675 HP:0008440 16 Feb 2016 Finding C12orf65-related combined oxidative phosphorylation defect MONDO CN258469 MONDO:0044655 17 Apr 2020 Disease C1q deficiency NCBI curation C3150902 613652 16 Feb 2016 Disease C1q nephropathy MONDO C0403434 MONDO:0023551 17 Apr 2020 Disease C2 deficiency, type I NCBI curation C4017351 26 May 2016 Disease C2 deficiency, type II NCBI curation C4017352 26 May 2016 Disease C2-C3 subluxation Human Phenotype Ontology C2678323 HP:0008456 16 Feb 2016 Finding C2-related disorders 23 May 2019 Disease C3 deficiency NCBI curation C1332655 16 Feb 2016 Disease C3 Glomerulonephritis C4055342 16 Feb 2016 Disease C3 nephritic factor positivity Human Phenotype Ontology C4293688 HP:0030888 02 Apr 2017 Finding C3 POLYMORPHISM, HAV 4-1 PLUS/MINUS TYPE 16 Feb 2016 Disease C3HEX, ability to smell NCBI curation C3554456 615082 16 Feb 2016 Disease C3S/C3F POLYMORPHISM 16 Feb 2016 Disease C4a deficiency NCBI curation C3280642 16 Feb 2016 Disease C6 A/B POLYMORPHISM 16 Feb 2016 Disease C6 deficiency, subtotal NCBI curation C2676233 16 Feb 2016 Disease C7 and C6 deficiency, combined subtotal NCBI curation C4017564 06 Mar 2016 Disease C8 deficiency Human Phenotype Ontology C3151082 HP:0004434 16 Feb 2016 Finding C8orf37-Related Disorders 23 May 2019 Disease Ca/Tu ALLOANTIGEN POLYMORPHISM 16 Feb 2016 Disease Cachexia Human Phenotype Ontology C0006625 HP:0004326 16 Feb 2016 Finding CACNA1A-related condition 27 Apr 2018 Finding CACNA1A-Related Disorder 29 Aug 2019 Disease CACNA1A-related disorders 21 May 2020 Disease CACNA1C-related condition 27 Apr 2018 Finding CACNA1C-Related Disorder 29 Aug 2019 Disease CACNA1C-Related Disorders 18 Oct 2019 Disease CACNA1G-related disorders 13 Oct 2017 Disease CACNA1H-related disorder 09 Feb 2018 Disease CACNB4-Related Disorders 23 May 2019 Disease Cadmium poisoning MONDO MONDO:0043523 17 Apr 2020 Disease Caesarian section Human Phenotype Ontology C0007876 HP:0011410 16 Feb 2016 Finding Cafe-au-lait spot Human Phenotype Ontology C0221263 HP:0000957 16 Feb 2016 Finding caffeine response - Toxicity/ADR PharmGKB CN236491 981201549 18 May 2016 Pharmacological response Café au Lait CN244027 01 Jun 2017 Finding Café-au-lait macules with pulmonary stenosis C0553586 193520 16 Feb 2016 Disease Café-au-lait spot CN235388 04 Mar 2016 Finding Calabro syndrome C0796276 16 Feb 2016 Disease Calcaneal epiphyseal stippling Human Phenotype Ontology C1861708 HP:0004695 16 Feb 2016 Finding Calcaneonavicular fusion Human Phenotype Ontology C4024730 HP:0008122 16 Feb 2016 Finding Calcaneovalgus deformity Human Phenotype Ontology C1860450 HP:0001848 16 Feb 2016 Finding Calcific aortic disease with immunologic abnormalities, familial NCBI curation C1861974 114065 16 Feb 2016 Disease Calcific aortic valve stenosis Human Phenotype Ontology C1856481 HP:0005173 16 Feb 2016 Finding Calcific stippling Human Phenotype Ontology C1849993 HP:0002832 16 Feb 2016 Finding Calcific stippling of infantile cartilaginous skeleton Human Phenotype Ontology C1859135 HP:0005841 16 Feb 2016 Finding Calcific tendinitis MONDO C0521515 MONDO:0001903 17 Apr 2020 Disease Calcification of cartilage Human Phenotype Ontology C4022015 HP:0100593 16 Feb 2016 Finding Calcification of extrapyramidal basal ganglia CN239811 30 Dec 2016 Disease Calcification of falx cerebri Human Phenotype Ontology C1397139 HP:0005462 16 Feb 2016 Finding Calcification of joints and arteries NCBI curation C1859372 211800 16 Feb 2016 Disease Calcification of muscles Human Phenotype Ontology C2960760 HP:0100249 16 Feb 2016 Finding Calcification of ribs Human Phenotype Ontology C4022461 HP:0040059 16 Feb 2016 Finding Calcification of the aorta Human Phenotype Ontology C1096249 HP:0004963 16 Feb 2016 Finding Calcification of the auricular cartilage Human Phenotype Ontology C1408806 HP:0005103 16 Feb 2016 Finding Calcification of the falx cerebri CN233175 16 Feb 2016 Finding Calcification of the interosseus membrane of the forearm Human Phenotype Ontology C4022549 HP:0030267 16 Feb 2016 Finding Calcification of the small brain vessels Human Phenotype Ontology C4025703 HP:0002504 16 Feb 2016 Finding Calcified amorphous tumor of the heart Human Phenotype Ontology C4531178 HP:0031351 04 Apr 2018 Finding Calcified aponeurotic fibroma MONDO C0553647 MONDO:0016038 17 Apr 2020 Disease Calcified ovarian cyst Human Phenotype Ontology C4072939 HP:0030425 16 Feb 2016 Finding Calcified placenta Human Phenotype Ontology C0426234 HP:0011415 16 Feb 2016 Finding Calcifying Epithelial Odontogenic Tumor C0334574 16 Feb 2016 Disease Calcifying fibrous tumor MONDO C1332833 MONDO:0006121 17 Apr 2020 Disease Calcifying nested epithelial stromal tumor of the liver MONDO C3273067 MONDO:0006122 17 Apr 2020 Disease Calcinosis Human Phenotype Ontology C0006663 HP:0003761 16 Feb 2016 Finding Calcinosis cutis Human Phenotype Ontology C0006664 HP:0025520 04 Apr 2018 Finding Calciphylaxis C0006666 16 Feb 2016 Disease Calciphylaxis cutis MONDO C4274083 MONDO:0017216 17 Apr 2020 Disease Calcitonin polymorphism NCBI curation 16 Feb 2016 Disease Calcium channel antibody positivity Human Phenotype Ontology C4022577 HP:0030209 16 Feb 2016 Finding Calcium nephrolithiasis Human Phenotype Ontology C1855801 HP:0004724 16 Feb 2016 Finding Calcium oxalate urolithiasis Human Phenotype Ontology C1833683 HP:0008672 167030 10 Apr 2018 Disease Calcium phosphate nephrolithiasis Human Phenotype Ontology C3671880 HP:0012580 16 Feb 2016 Finding Calcium-alkali syndrome MONDO MONDO:0400002 17 Apr 2020 Disease Calf muscle hypertrophy Human Phenotype Ontology C1843057 HP:0008981 16 Feb 2016 Finding Calf muscle hypoplasia Human Phenotype Ontology C3805450 HP:0008962 16 Feb 2016 Finding Calf muscle pseudohypertrophy Human Phenotype Ontology C1839666 HP:0003707 16 Feb 2016 Finding CALFAN syndrome NCBI curation C5204605 22 Nov 2017 Disease Caliciviridae infectious disease MONDO CN281770 MONDO:0005687 04 Jun 2020 Infectious disease Callosities, hereditary painful NCBI curation C1861964 114140 16 Feb 2016 Disease Calloso-genital dysplasia C2931677 16 Feb 2016 Disease CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY AND SPONDYLOMETAPHYSEAL DYSPLASIA CN260576 29 Jun 2019 Disease Calvarial osteosclerosis Human Phenotype Ontology C1855657 HP:0005450 16 Feb 2016 Finding Calvarial skull defect Human Phenotype Ontology C4025787 HP:0001362 02 Apr 2017 Finding Camak syndrome NCBI curation 16 Feb 2016 Disease Camera-Marugo-Cohen syndrome MONDO C1858661 MONDO:0011419 604257 22 Apr 2020 Disease CAMK2G-related syndromic intellectual disability 21 May 2020 Disease CAMOS syndrome MONDO C4511633 MONDO:0019374 17 Apr 2020 Disease Campomelia, Cumming type MONDO C1859371 MONDO:0008896 211890 22 Apr 2020 Disease Campomelic dysplasia with autosomal sex reversal NCBI curation C1842462 22 Jun 2016 Disease Camptobrachydactyly C1861963 114150 16 Feb 2016 Disease Camptodactyly Human Phenotype Ontology C0685409 HP:0012385 16 Feb 2016 Disease Camptodactyly 1 NCBI curation C2751430 114200 16 Feb 2016 Disease Camptodactyly joint contractures and facial skeletal dysplasia C2931678 16 Feb 2016 Disease Camptodactyly of 2nd-5th fingers Human Phenotype Ontology C1859368 HP:0001215 16 Feb 2016 Finding Camptodactyly of finger Human Phenotype Ontology C0409348 HP:0100490 16 Feb 2016 Finding Camptodactyly of toe Human Phenotype Ontology C4021774 HP:0001836 16 Feb 2016 Finding Camptodactyly syndrome Guadalajara type 2 NCBI curation C2673861 211920 16 Feb 2016 Disease Camptodactyly syndrome, Guadalajara type 1 MONDO C1859359 MONDO:0008898 211910 22 Apr 2020 Disease Camptodactyly syndrome, Guadalajara type 3 MONDO C2677809 MONDO:0012759 611929 22 Apr 2020 Disease Camptodactyly taurinuria 16 Feb 2016 Disease Camptodactyly vertebral fusion C2931682 16 Feb 2016 Disease Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia MONDO C1859357 MONDO:0008900 211930 22 Apr 2020 Disease Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye MONDO C1865133 MONDO:0011262 602612 17 Apr 2020 Disease Camptodactyly, tall stature, and hearing loss syndrome (CATSHL syndrome) CN235352 01 Mar 2016 Disease Camptodactyly-arthropathy-coxa vara-pericarditis syndrome MONDO C1859690 MONDO:0008828 208250 22 Apr 2020 Disease Camptodactyly-ichthyosis syndrome C1859355 211965 16 Feb 2016 Disease Camptodactyly-tall stature-scoliosis-hearing loss syndrome MONDO C1864852 MONDO:0012504 610474 17 Apr 2020 Disease Camptomelic dysplasia C1861922 114290 16 Feb 2016 Disease Camptomelic syndrome, long-limb type MONDO C1859354 MONDO:0008904 211990 22 Apr 2020 Disease Camptosynpolydactyly, complex NCBI curation C1843758 607539 16 Feb 2016 Disease Campylobacter fetus infectious disease MONDO C0275979 MONDO:0040728 04 Jun 2020 Infectious disease Campylobacteriosis MONDO C0006818 MONDO:0005688 04 Jun 2020 Infectious disease Camurati-Engelmann disease, type 2 MONDO C2931683 MONDO:0011690 606631 22 Apr 2020 Disease Canavan Disease, Familial Form NCBI curation C0751663 16 Mar 2018 Disease Canavan disease, mild NCBI curation C4017127 16 Feb 2016 Disease Cancer 04 May 2018 Disease Cancer affecting bone of limb skeleton MONDO MONDO:0024311 17 Apr 2020 Disease Cancer of cerebellum MONDO MONDO:0021317 17 Apr 2020 Disease Cancer of isthmus of fallopian tube MONDO MONDO:0004792 17 Apr 2020 Disease Cancer of long bone of lower limb MONDO C3265932 MONDO:0000952 17 Apr 2020 Disease Cancer of long bone of upper limb MONDO MONDO:0100085 17 Apr 2020 Disease Cancer of multiple types, susceptibility to NCBI curation 16 Feb 2016 Disease Cancer of short bone of lower limb MONDO C0153518 MONDO:0000953 17 Apr 2020 Disease Cancer of short bone of upper limb MONDO MONDO:0024312 17 Apr 2020 Disease Cancer of the pancreas NCBI curation C0346647 24 Aug 2018 Disease Cancer progression and tumor cell motility NCBI curation C4016099 16 Feb 2016 Disease CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA OMIM CN258269 618373 618373 31 Mar 2019 Disease Cancer, familial, with in vitro radioresistance NCBI curation C1861915 114450 16 Feb 2016 Disease Cancer-associated retinopathy MONDO C1321315 MONDO:0019112 17 Apr 2020 Disease Cancer-related condition MONDO C0280950 MONDO:0045054 17 Apr 2020 Disease Cancerophobia MONDO MONDO:0003736 17 Apr 2020 Disease Cancrum oris C0028271 16 Feb 2016 Infectious disease Candida glabrata CN281816 16 Feb 2016 Infectious disease Candidal paronychia MONDO C1282977 MONDO:0001984 04 Jun 2020 Infectious disease Candidemia MONDO C0877445 MONDO:0044070 04 Jun 2020 Infectious disease Candidiasis MONDO C0006840 MONDO:0002026 04 Jun 2020 Infectious disease Candidiasis, familial, 1 NCBI curation C2751429 114580 16 Feb 2016 Disease Candidiasis, familial, 2 NCBI curation C1859353 212050 16 Feb 2016 Disease Candidiasis, familial, 2, autosomal recessive CN259016 13 Jun 2019 Disease Candidiasis, familial, 3 NCBI curation C1843306 607644 16 Feb 2016 Disease Candidiasis, familial, 4, autosomal recessive CN259017 13 Jun 2019 Disease Candidiasis, familial, 6 NCBI curation C3151405 613956 16 Feb 2016 Disease Candidiasis, familial, 6, autosomal dominant CN259018 13 Jun 2019 Disease Candidiasis, familial, 8 NCBI curation C3714992 615527 16 Feb 2016 Disease Candidiasis, familial, 9 NCBI curation C4225324 616445 16 Feb 2016 Disease Candidiasis, Invasive MONDO C1609535 MONDO:0044067 04 Jun 2020 Infectious disease Canine teeth, absence of upper permanent NCBI curation C1861899 114600 16 Feb 2016 Disease Cannabinoid hyperemesis syndrome MONDO MONDO:0100094 17 Apr 2020 Disease Cannabis dependence MONDO C0006870 MONDO:0005689 17 Apr 2020 Disease Cannot sit or stand CN234613 16 Feb 2016 Finding CANOMAD syndrome C2931684 16 Feb 2016 Disease Cantalamessa Baldini Ambrosi syndrome 16 Feb 2016 Disease Canthal anomaly MONDO MONDO:0020163 17 Apr 2020 Disease Cantu Sanchez-Corona Fragoso syndrome C2930937 16 Feb 2016 Disease Cantu Sanchez-Corona Garcia-Cruz syndrome 16 Feb 2016 Disease Cantu Sanchez-Corona Hernandez syndrome 16 Feb 2016 Disease Cantu syndrome, KCNJ8 related CN235353 01 Mar 2016 Disease cap myopathy NCBI curation C3710589 16 Feb 2016 Disease Cap myopathy 1 NCBI curation C3714994 16 Feb 2016 Disease Cap myopathy 2 NCBI curation C3807907 16 Feb 2016 Disease Cap polyposis MONDO C4303971 MONDO:0015565 17 Apr 2020 Disease CAP-congenital myopathy with arthrogryposis multiplex congenita without heart involvement CN234897 16 Feb 2016 Disease Capecitabine response NCBI curation CN077963 16 Feb 2016 Pharmacological response capecitabine response - Efficacy PharmGKB CN240592 981202230 17 Feb 2017 Pharmacological response capecitabine response - Toxicity/ADR PharmGKB CN236492 981201535 18 May 2016 Pharmacological response capecitabine response - Toxicity/ADR, Metabolism/PK PharmGKB CN240593 827843617 17 Feb 2017 Pharmacological response Capgras syndrome MONDO C0006895 MONDO:0003965 17 Apr 2020 Disease Capillariasis MONDO C0006897 MONDO:0001532 04 Jun 2020 Infectious disease Capillary disease MONDO C0155765 MONDO:0001574 17 Apr 2020 Disease Capillary fragility Human Phenotype Ontology C0006905 HP:0025017 02 Apr 2017 Finding Capillary hemangioblastoma 16 Feb 2016 Disease Capillary hemangiomas Human Phenotype Ontology C0206733 HP:0005306 16 Feb 2016 Finding Capillary leak Human Phenotype Ontology C1382398 HP:0030005 16 Feb 2016 Finding Capillary leak syndrome 16 Feb 2016 Disease Capillary malformation Human Phenotype Ontology C0340803 HP:0025104 163000 04 Apr 2018 Disease Capillary malformation of the lip Human Phenotype Ontology C4531089 HP:0031487 04 Apr 2018 Finding Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth NCBI curation C2751313 613089 16 Feb 2016 Disease Capillary malformation without arteriovenous malformation NCBI curation C2675370 16 Feb 2016 Disease Capillary malformation-arteriovenous malformation OMIM phenotypic series C1842180 PS608354 02 Jan 2020 Disease Capillary malformation-arteriovenous malformation 1 NCBI curation C4747394 608354 02 Jan 2020 Disease Capillary malformation-arteriovenous malformation 2 NCBI curation C4748670 618196 02 Jan 2020 Disease Capitate-hamate fusion Human Phenotype Ontology C1857002 HP:0001241 16 Feb 2016 Finding Caplan syndrome MONDO C0006915 MONDO:0005690 17 Apr 2020 Disease CAPN3-Related Disorders CN239245 02 Dec 2016 Disease Capsular cataract Human Phenotype Ontology C0339352 HP:0100017 16 Feb 2016 Finding captopril response - Efficacy PharmGKB CN236493 982047862 18 May 2016 Pharmacological response Caput medusae Human Phenotype Ontology C0221226 HP:0025203 02 Apr 2017 Finding Car factor deficiency NCBI curation C1861898 114650 16 Feb 2016 Disease Carabelli anomaly of maxillary molar teeth NCBI curation C1861897 114700 16 Feb 2016 Disease CARASIL OMIM C1838577 600142 600142 17 Apr 2020 Disease CARASIL GeneReviews C1838577 NBK32533 600142 17 Apr 2020 Disease CARASIL MONDO C1838577 MONDO:0010829 600142 17 Apr 2020 Disease CARASIL syndrome CN258997 12 Jun 2019 Disease Carbamazepine hypersensitivity NCBI curation C3277286 16 Feb 2016 Pharmacological response Carbamazepine response NCBI curation CN077964 16 Feb 2016 Pharmacological response carbamazepine response - Dosage PharmGKB CN236494 613978931 18 May 2016 Pharmacological response carbamazepine response - Efficacy PharmGKB CN240594 1447961401 17 Feb 2017 Pharmacological response CARBAMOYL PHOSPHATE SYNTHETASE I POLYMORPHISM 20 Jun 2019 Disease Carbimazole sensitivity NCBI curation C1859352 212060 16 Feb 2016 Pharmacological response Carbohydrate metabolism disease MONDO MONDO:0037792 17 Apr 2020 Disease Carbohydrate transport disease MONDO C0268173 MONDO:0045015 17 Apr 2020 Disease Carbohydrate-deficient glycoprotein syndrome type III C0349655 212067 16 Feb 2016 Disease Carbon monoxide-induced parkinsonism MONDO C0393565 MONDO:0017639 17 Apr 2020 Disease Carbonic anhydrase I deficiency NCBI curation C4015932 06 Mar 2016 Disease Carbonic anhydrase I, Guam NCBI curation C4015931 06 Mar 2016 Disease CARBONIC ANHYDRASE II VARIANT 16 Feb 2016 Disease Carbonic anhydrase VA deficiency, hyperammonemia due to NCBI curation C3810404 615751 16 Feb 2016 Disease Carbonic Anhydrase XII Deficiency CN219251 16 Feb 2016 Disease carboplatin response - Efficacy PharmGKB CN236495 981220481 18 May 2016 Pharmacological response carboplatin response - Efficacy, Toxicity/ADR PharmGKB CN236496 655386639 18 May 2016 Pharmacological response carboplatin, docetaxel, erlotinib, gemcitabine, and paclitaxel response - Efficacy PharmGKB CN236471 981475880 18 May 2016 Pharmacological response Carboxylesterase 1 deficiency NCBI curation 16 Feb 2016 Disease carboxymethyl-dextran-A2-gadolinium-DOTA C0663995 23 May 2020 Pharmacological response Carbuncle MONDO C0007078 MONDO:0002237 17 Apr 2020 Disease Carcinoid crisis MONDO C0342569 MONDO:0041167 17 Apr 2020 Disease Carcinoid heart disease MONDO C0007093 MONDO:0043529 17 Apr 2020 Disease Carcinoid syndrome 16 Feb 2016 Disease Carcinoid tumor Human Phenotype Ontology C0007095 HP:0100570 16 Feb 2016 Disease Carcinoid tumor (disease) MONDO MONDO:0005369 17 Apr 2020 Disease Carcinoid tumor childhood 16 Feb 2016 Disease Carcinoid tumor of intestine NCBI curation C0349535 114900 16 Feb 2016 Disease Carcinoma Human Phenotype Ontology C0007097 HP:0030731 02 Mar 2017 Disease Carcinoma arising in nasal papillomatosis MONDO C1332840 MONDO:0004556 17 Apr 2020 Disease Carcinoma ex pleomorphic adenoma MONDO C0344460 MONDO:0002472 17 Apr 2020 Disease Carcinoma in situ of appendix MONDO C0347125 MONDO:0021290 17 Apr 2020 Disease Carcinoma in situ of cecum MONDO C0347126 MONDO:0021289 17 Apr 2020 Disease Carcinoma in situ of epiglottis MONDO C0347103 MONDO:0021287 17 Apr 2020 Disease Carcinoma in situ of extrahepatic bile duct MONDO C0345914 MONDO:0021299 17 Apr 2020 Disease Carcinoma in situ of fundus of stomach MONDO C0345800 MONDO:0021291 17 Apr 2020 Disease Carcinoma in situ of gastric body MONDO C0345805 MONDO:0021292 17 Apr 2020 Disease Carcinoma in situ of gastric cardia MONDO C0345795 MONDO:0021294 17 Apr 2020 Disease Carcinoma in situ of hypopharynx MONDO C0347100 MONDO:0021288 17 Apr 2020 Disease Carcinoma in situ of nasopharynx MONDO C0347096 MONDO:0021297 17 Apr 2020 Disease Carcinoma in situ of oropharynx MONDO C0347099 MONDO:0021298 17 Apr 2020 Disease Carcinoma in situ of renal pelvis MONDO C0347184 MONDO:0021296 17 Apr 2020 Disease Carcinoma of anal canal NCBI curation C0563211 105580 16 Feb 2016 Disease Carcinoma of breast NCBI curation 16 Feb 2016 Disease Carcinoma of cervix NCBI curation C0302592 603956 16 Feb 2016 Disease Carcinoma of colon NCBI curation C0009402 16 Feb 2016 Disease Carcinoma of Cowper glands MONDO C1516284 MONDO:0004311 17 Apr 2020 Disease Carcinoma of duodenum MONDO MONDO:0021335 17 Apr 2020 Disease Carcinoma of esophagus Orphanet C0152018 ORPHA70482 03 Nov 2017 Disease Carcinoma of esophagus, salivary gland type MONDO C5190854 MONDO:0018480 17 Apr 2020 Disease Carcinoma of fallopian tube C0238122 16 Feb 2016 Disease Carcinoma of floor of mouth MONDO C3164417 MONDO:0021343 17 Apr 2020 Disease Carcinoma of gallbladder NCBI curation C0235782 02 Mar 2017 Disease Carcinoma of gallbladder and extrahepatic biliary tract MONDO CN205299 MONDO:0018918 17 Apr 2020 Disease Carcinoma of hard palate MONDO C0345550 MONDO:0021339 17 Apr 2020 Disease Carcinoma of head of pancreas NCBI curation C0518967 24 Aug 2018 Disease Carcinoma of lip MONDO C0149637 MONDO:0021333 17 Apr 2020 Disease Carcinoma of male breast C0238033 16 Feb 2016 Disease Carcinoma of pancreas NCBI curation C0235974 260350 16 Feb 2016 Disease Carcinoma of parotid gland MONDO C0345602 MONDO:0021331 17 Apr 2020 Disease Carcinoma of pharynx MONDO C3164746 MONDO:0021345 17 Apr 2020 Disease Carcinoma of soft palate MONDO C0345555 MONDO:0021329 17 Apr 2020 Disease Carcinoma of stomach, salivary gland type MONDO MONDO:0018503 17 Apr 2020 Disease Carcinoma of supraglottis MONDO C1299240 MONDO:0004357 17 Apr 2020 Disease Carcinoma of the vocal tract 16 Feb 2016 Disease Carcinoma of unknown primary site, childhood 16 Feb 2016 Disease Carcinoma of urethra MONDO C3164789 MONDO:0021327 17 Apr 2020 Disease Carcinoma, adrenocortical, androgen-secreting NCBI curation C1859998 16 Feb 2016 Disease Carcinoma, Brown-Pearce MONDO C0007122 MONDO:0020764 17 Apr 2020 Disease Carcinoma, Non-Small-Cell Lung PharmGKB CN236641 18 May 2016 Disease Carcinoma, Non-Small-Cell Lung;Colorectal Neoplasms;Esophageal Neoplasms;Mesothelioma;Neoplasms;Ovarian Neoplasms;Pancreatic Neoplasms PharmGKB 17 Feb 2017 Disease Carcinoma, Non-Small-Cell Lung;Colorectal Neoplasms;Neoplasms;Ovarian Neoplasms;Pancreatic Neoplasms;Uterine Cervical Neoplasms PharmGKB 17 Feb 2017 Disease Carcinosarcoma MONDO C0007140 MONDO:0002928 17 Apr 2020 Disease Cardia cancer MONDO C0153417 MONDO:0001063 17 Apr 2020 Disease Cardiac amyloidosis Human Phenotype Ontology C0268407 HP:0030843 02 Apr 2017 Finding Cardiac and laterality defects 16 Feb 2016 Disease Cardiac anomalies-heterotaxy syndrome MONDO CN199246 MONDO:0015296 17 Apr 2020 Disease Cardiac arrest Human Phenotype Ontology C0018790 HP:0001695 16 Feb 2016 Finding Cardiac arrhythmia NCBI curation C0003811 115000 16 Feb 2016 Disease Cardiac arrhythmia, ankyrin B-related NCBI curation C1970119 600919 16 Feb 2016 Disease Cardiac arrhythmia, increased risk, association NCBI curation 16 Feb 2016 Disease Cardiac branch artery stenosis CN235173 16 Feb 2016 Finding Cardiac channelopathy NCBI curation C3698186 30 Dec 2016 Disease Cardiac conduction abnormalities NCBI curation C1842820 16 Feb 2016 Disease Cardiac conduction abnormality Human Phenotype Ontology CN912253 HP:0031546 04 Apr 2018 Finding cardiac conduction defect CN232686 16 Feb 2016 Finding Cardiac conduction defect, nonprogressive NCBI curation C1861984 11 Nov 2018 Disease Cardiac conduction defect, nonspecific NCBI curation C2748542 11 Nov 2018 Disease Cardiac conduction defect, susceptibility to NCBI curation 16 Feb 2016 Disease Cardiac conduction disease with or without dilated cardiomyopathy NCBI curation C4015285 616117 16 Feb 2016 Disease Cardiac defects C0741916 17 Mar 2017 Finding Cardiac disease CN239852 11 Jan 2017 Disease Cardiac disease with cataract MONDO MONDO:0020231 17 Apr 2020 Disease Cardiac diverticulum (disease) MONDO C4020965 MONDO:0015677 17 Apr 2020 Disease cardiac dysrhythmias 14 Mar 2019 Finding Cardiac fibroma Human Phenotype Ontology C1096654 HP:0010617 16 Feb 2016 Finding Cardiac germ cell tumor MONDO C4687640 MONDO:0020589 17 Apr 2020 Disease Cardiac granular cell neoplasm MONDO C1332845 MONDO:0003254 17 Apr 2020 Disease Cardiac hemangioma Human Phenotype Ontology C1707298 HP:0011673 16 Feb 2016 Finding Cardiac hydatid cysts with intracavitary expansion 16 Feb 2016 Disease Cardiac hypertrophy C1383860 16 Feb 2016 Finding Cardiac lipidosis, familial NCBI curation C1859332 212080 16 Feb 2016 Disease Cardiac myxoma Human Phenotype Ontology C1960546 HP:0011672 16 Feb 2016 Finding Cardiac rhabdomyoma Human Phenotype Ontology C1332852 HP:0009729 16 Feb 2016 Finding Cardiac rhythm disease MONDO MONDO:0007263 17 Apr 2020 Disease Cardiac rupture 16 Feb 2016 Disease Cardiac sarcoidosis MONDO C0392077 MONDO:0001707 17 Apr 2020 Disease Cardiac sarcoma Human Phenotype Ontology C0238152 HP:0031350 04 Apr 2018 Finding Cardiac septal defects with coarctation of the aorta NCBI curation C1859331 212090 16 Feb 2016 Disease Cardiac shunt Human Phenotype Ontology C0232180 HP:0001693 16 Feb 2016 Finding Cardiac tamponade MONDO C0007177 MONDO:0001297 17 Apr 2020 Disease Cardiac teratoma Human Phenotype Ontology C1112387 HP:0011674 16 Feb 2016 Finding Cardiac total anomalous pulmonary venous connection Human Phenotype Ontology C4021130 HP:0011720 16 Feb 2016 Finding Cardiac tuberculosis MONDO C0041308 MONDO:0000813 04 Jun 2020 Infectious disease Cardiac valve calcification Human Phenotype Ontology C1856483 HP:0005146 16 Feb 2016 Finding Cardiac valvular defect, developmental NCBI curation C1859330 212093 16 Feb 2016 Disease cardiac valvular disease C0018824 16 Feb 2016 Finding Cardiac valvular dysplasia, X-linked NCBI curation C0262436 314400 17 Feb 2020 Disease Cardiac ventricle disease MONDO C1562298 MONDO:0045001 17 Apr 2020 Disease CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY OMIM C4748484 618164 618164 02 Nov 2018 Disease CARDIAC-UROGENITAL SYNDROME OMIM C4748946 618280 618280 13 Jan 2019 Disease Cardio-cutaneous syndrome CN262501 20 Jun 2017 Disease Cardio-facio-cutaneous syndrome NCBI curation C1275081 09 Nov 2016 Disease Cardio-renal syndrome MONDO C2242703 MONDO:0044079 17 Apr 2020 Disease Cardioauditory syndrome of Sanchez Cascos C1859329 212100 16 Feb 2016 Disease Cardiocranial syndrome, Pfeiffer type MONDO C1857495 MONDO:0009036 218450 22 Apr 2020 Disease Cardiocutaneous syndrome MONDO MONDO:0100071 17 Apr 2020 Disease Cardioectodermal syndrome MONDO MONDO:0100080 17 Apr 2020 Disease Cardioencephalomyopathy 16 Feb 2016 Disease Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency NCBI curation C1858424 604377 16 Feb 2016 Disease Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 NCBI curation C3554534 615119 16 Feb 2016 Disease Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 NCBI curation C4225154 616500 16 Feb 2016 Disease Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 NCBI curation C4225304 616501 16 Feb 2016 Disease Cardiofacial syndrome short limbs 16 Feb 2016 Disease Cardiofaciocutaneous syndrome 1 NCBI curation CN029449 115150 16 Feb 2016 Disease Cardiofaciocutaneous syndrome 2 NCBI curation C3809005 615278 16 Feb 2016 Disease Cardiofaciocutaneous syndrome 3 NCBI curation C3809006 615279 16 Feb 2016 Disease Cardiofaciocutaneous syndrome 4 NCBI curation C3809007 615280 16 Feb 2016 Disease Cardiogenic shock Human Phenotype Ontology C0036980 HP:0030149 16 Feb 2016 Finding Cardiology CN282545 17 Jun 2020 Pharmacological response Cardiomegaly Human Phenotype Ontology C0018800 HP:0001640 16 Feb 2016 Finding Cardiomelic syndrome Stratton Koehler type 16 Feb 2016 Disease Cardiomyocyte degeneration Human Phenotype Ontology C4531191 HP:0031332 04 Apr 2018 Finding Cardiomyocyte hypertrophy Human Phenotype Ontology C4227331 HP:0031319 04 Apr 2018 Finding Cardiomyocyte inclusion bodies Human Phenotype Ontology C4531189 HP:0031334 04 Apr 2018 Finding Cardiomyocyte mitochondrial proliferation Human Phenotype Ontology C4531203 HP:0031320 04 Apr 2018 Finding Cardiomyopathies PharmGKB CN236666 18 May 2016 Disease Cardiomyopathy Human Phenotype Ontology C0878544 HP:0001638 16 Feb 2016 Disease Cardiomyopathy and Deafness NCBI curation C4016620 16 Feb 2016 Disease Cardiomyopathy and deafness due to tRNA lysine gene mutation CN036924 16 Feb 2016 Disease Cardiomyopathy associated with myopathy and sudden death NCBI curation C1859328 212130 16 Feb 2016 Disease Cardiomyopathy cataract hip spine disease 16 Feb 2016 Disease Cardiomyopathy diabetes deafness 16 Feb 2016 Disease Cardiomyopathy dilated with conduction defect type 1 16 Feb 2016 Disease Cardiomyopathy dilated with conduction defect type 2 16 Feb 2016 Disease Cardiomyopathy due to anthracyclines 16 Feb 2016 Disease Cardiomyopathy hypogonadism metabolic anomalies 16 Feb 2016 Disease Cardiomyopathy spherocytosis 16 Feb 2016 Disease Cardiomyopathy with or without skeletal myopathy NCBI curation C4016615 16 Feb 2016 Disease Cardiomyopathy, apical hypertrophic, and neuropathy NCBI curation C3275686 16 Feb 2016 Disease Cardiomyopathy, arrhythmogenic right ventricular dysplasia CN231087 16 Feb 2016 Disease Cardiomyopathy, dilated, 1AA, with or without LVNC CN258971 12 Jun 2019 Disease Cardiomyopathy, dilated, 1C, with or without LVNC CN258972 12 Jun 2019 Disease Cardiomyopathy, dilated, 1NN NCBI curation C4014656 615916 16 Feb 2016 Disease Cardiomyopathy, dilated, 1u NCBI curation C3160720 613694 16 Feb 2016 Disease Cardiomyopathy, dilated, 2b NCBI curation C3553409 614672 16 Feb 2016 Disease CARDIOMYOPATHY, DILATED, 2C OMIM C4748647 618189 618189 17 Nov 2018 Disease Cardiomyopathy, dilated, and heart failure CN231086 16 Feb 2016 Disease Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis NCBI curation C4014393 615821 16 Feb 2016 Disease CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 18 Oct 2019 Disease CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 OMIM C4748014 618052 618052 14 Jul 2018 Disease Cardiomyopathy, familial hypertrophic, 26 NCBI curation C4310749 617047 24 Aug 2016 Disease Cardiomyopathy, familial hypertrophic, 4, susceptibility to NCBI curation C2751427 16 Feb 2016 Disease Cardiomyopathy, familial restrictive, 4 NCBI curation C3808963 16 Feb 2016 Disease Cardiomyopathy, familial restrictive, 5 NCBI curation CN237821 24 Aug 2016 Disease Cardiomyopathy, fatal NCBI curation C4016613 16 Feb 2016 Disease Cardiomyopathy, fatal fetal, due to myocardial calcification NCBI curation C1853577 300829 16 Feb 2016 Disease Cardiomyopathy, fatal infantile NCBI curation C4016612 16 Feb 2016 Disease Cardiomyopathy, hypertrophic 6 CN258973 12 Jun 2019 Disease Cardiomyopathy, hypertrophic, 1 CN258984 12 Jun 2019 Disease Cardiomyopathy, hypertrophic, 1, digenic CN258974 12 Jun 2019 Disease Cardiomyopathy, hypertrophic, 10 CN258975 12 Jun 2019 Disease Cardiomyopathy, hypertrophic, 11 CN258976 12 Jun 2019 Disease Cardiomyopathy, hypertrophic, 12 CN258977 12 Jun 2019 Disease Cardiomyopathy, hypertrophic, 13 CN258978 12 Jun 2019 Disease Cardiomyopathy, hypertrophic, 14 CN258979 12 Jun 2019 Disease Cardiomyopathy, hypertrophic, 15 CN258980 12 Jun 2019 Disease Cardiomyopathy, hypertrophic, 16 CN258981 12 Jun 2019 Disease Cardiomyopathy, hypertrophic, 17 CN258982 12 Jun 2019 Disease Cardiomyopathy, hypertrophic, 18 CN258983 12 Jun 2019 Disease Cardiomyopathy, hypertrophic, 2 CN258990 12 Jun 2019 Disease Cardiomyopathy, hypertrophic, 20 CN258985 12 Jun 2019 Disease Cardiomyopathy, hypertrophic, 22 CN258986 12 Jun 2019 Disease Cardiomyopathy, hypertrophic, 23, with or without LVNC CN258987 12 Jun 2019 Disease Cardiomyopathy, hypertrophic, 24 CN258988 12 Jun 2019 Disease Cardiomyopathy, hypertrophic, 25 CN258989 12 Jun 2019 Disease Cardiomyopathy, hypertrophic, 3 CN258991 12 Jun 2019 Disease Cardiomyopathy, hypertrophic, 4 CN258992 12 Jun 2019 Disease Cardiomyopathy, hypertrophic, 7 CN258993 12 Jun 2019 Disease Cardiomyopathy, hypertrophic, 8 CN258994 12 Jun 2019 Disease Cardiomyopathy, hypertrophic, association with CN231088 16 Feb 2016 Disease Cardiomyopathy, hypertrophic, midventricular, digenic NCBI curation C4016270 16 Feb 2016 Disease Cardiomyopathy, hypertrophic, mitochondrial NCBI curation C3532240 16 Feb 2016 Disease Cardiomyopathy, idiopathic dilated, mitochondrial NCBI curation C4016610 16 Feb 2016 Disease Cardiomyopathy, infantile hypertrophic NCBI curation C2748884 500006 16 Feb 2016 Disease Cardiomyopathy, left ventrcular noncompaction CN231092 16 Feb 2016 Disease Cardiomyopathy, left ventricular noncompaction NCBI curation CN221582 26 May 2016 Disease Cardiomyopathy, mitochondrial NCBI curation C3532239 16 Feb 2016 Disease Cardiomyopathy, right ventricular dilated NCBI curation C1862512 16 Feb 2016 Disease Cardiomyopathy-cataract-hip spine disease syndrome MONDO C2931548 MONDO:0015282 17 Apr 2020 Disease Cardioneuromyopathy with hyaline masses and nemaline rods NCBI curation C1847387 606842 16 Feb 2016 Disease Cardiorespiratory arrest Human Phenotype Ontology C0600228 HP:0006543 16 Feb 2016 Finding Cardiospondylocarpofacial syndrome NCBI curation C2931461 157800 29 Oct 2018 Disease Cardiovascular (adult onset) CN232463 16 Feb 2016 Finding Cardiovascular (child onset) CN232535 16 Feb 2016 Finding Cardiovascular calcification Human Phenotype Ontology C4023128 HP:0011915 16 Feb 2016 Finding Cardiovascular cancer MONDO MONDO:0002100 17 Apr 2020 Disease Cardiovascular Diseases PharmGKB CN236672 18 May 2016 Disease Cardiovascular neoplasm MONDO C0497243 MONDO:0024757 17 Apr 2020 Disease Cardiovascular organ benign neoplasm MONDO MONDO:0000629 17 Apr 2020 Disease Cardiovascular phenotype CN230736 16 Feb 2016 Finding Cardiovascular syphilis MONDO C0039130 MONDO:0004911 04 Jun 2020 Infectious disease Cardiovirus infectious disease MONDO C0206617 MONDO:0005691 04 Jun 2020 Infectious disease Carious teeth Human Phenotype Ontology C0011334 HP:0000670 16 Feb 2016 Finding Carisoprodol response NCBI curation CN221245 16 Feb 2016 Pharmacological response Carnevale Hernandez Castillo syndrome C2930940 16 Feb 2016 Disease Carney complex NCBI curation C0406810 16 Feb 2016 Disease Carney complex variant NCBI curation C1837245 608837 16 Feb 2016 Disease Carney complex, type 1 NCBI curation C2607929 160980 16 Feb 2016 Disease Carney complex, type 2 NCBI curation C1854540 605244 16 Feb 2016 Disease Carney triad NCBI curation C1858592 604287 16 Feb 2016 Disease Carney-Stratakis syndrome MONDO C1847319 MONDO:0011740 606864 17 Apr 2020 Disease Carnitine acylcarnitine translocase deficiency NCBI curation C0342791 212138 16 Feb 2016 Disease Carnitine deficiency, myopathic MONDO C1859318 MONDO:0008920 212160 22 Apr 2020 Disease Carnitine palmitoyltransferase 1A deficiency NCBI curation C1829703 28 May 2020 Disease Carnitine palmitoyltransferase I deficiency C0342789 255120 16 Feb 2016 Disease Carnitine palmitoyltransferase I deficiency , muscle CN035311 16 Feb 2016 Disease CARNITINE PALMITOYLTRANSFERASE IA POLYMORPHISM 28 Oct 2018 Disease Carnitine palmitoyltransferase II deficiency C0342790 16 Feb 2016 Disease Carnitine palmitoyltransferase II deficiency, infantile NCBI curation C1833511 600649 16 Feb 2016 Disease Carnitine palmitoyltransferase II deficiency, lethal neonatal NCBI curation C1833518 608836 08 Jun 2018 Disease Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced NCBI curation C1833508 255110 20 Jun 2017 Disease Carnosinemia NCBI curation C3495555 212200 29 Oct 2018 Disease Carnosinuria Human Phenotype Ontology C3495558 HP:0003167 16 Feb 2016 Finding Caroli disease NCBI curation C0162510 16 Feb 2016 Disease Caroli disease, isolated NCBI curation C1833541 600643 16 Feb 2016 Disease Caroli syndrome MONDO CN261249 MONDO:0018808 17 Apr 2020 Disease Caronte NCBI curation C1858724 604172 16 Feb 2016 Disease Carotenemia MONDO C0154271 MONDO:0021162 17 Apr 2020 Disease Carotid artery calcification Human Phenotype Ontology C4285890 HP:0031314 04 Apr 2018 Finding Carotid artery dilatation Human Phenotype Ontology C4476554 HP:0012163 04 Apr 2018 Finding Carotid artery disease MONDO C0007273 MONDO:0005269 17 Apr 2020 Disease Carotid artery dissection Human Phenotype Ontology C0338585 HP:0012158 16 Feb 2016 Finding Carotid artery occlusion Human Phenotype Ontology C0265101 HP:0012474 16 Feb 2016 Finding Carotid artery stenosis Human Phenotype Ontology C0007282 HP:0100546 16 Feb 2016 Finding Carotid artery thrombosis MONDO C0007274 MONDO:0006690 17 Apr 2020 Disease Carotid artery tortuosity Human Phenotype Ontology C1303076 HP:0005302 16 Feb 2016 Finding Carotid body paraganglioma MONDO C0007279 MONDO:0021053 17 Apr 2020 Disease Carotid body tumor 16 Feb 2016 Disease Carotid cavernous fistula Human Phenotype Ontology C0238045 HP:0031157 04 Apr 2018 Finding Carotid intimal medial thickness 1 NCBI curation C1836302 609338 16 Feb 2016 Disease Carotid intimal medial thickness 2 NCBI curation C1838020 608447 16 Feb 2016 Disease Carotid paraganglioma Human Phenotype Ontology C4022005 HP:0100635 16 Feb 2016 Finding Carotid sinus syncope Human Phenotype Ontology C0221046 HP:0012669 16 Feb 2016 Finding Carp allergy MONDO MONDO:0000791 17 Apr 2020 Disease Carpal bone aplasia Human Phenotype Ontology C1836219 HP:0004231 16 Feb 2016 Finding Carpal bone hypoplasia Human Phenotype Ontology C1863749 HP:0001498 16 Feb 2016 Finding Carpal bone malsegmentation Human Phenotype Ontology C4025137 HP:0005776 16 Feb 2016 Finding Carpal deformity migrognathia microstomia 16 Feb 2016 Disease Carpal displacement NCBI curation C1861847 115400 16 Feb 2016 Disease Carpal osteolysis Human Phenotype Ontology C1833734 HP:0001495 16 Feb 2016 Finding Carpal region disease MONDO C1290872 MONDO:0044998 17 Apr 2020 Disease Carpal synostosis Human Phenotype Ontology C0431863 HP:0009702 16 Feb 2016 Finding Carpal tunnel syndrome NCBI curation C0007286 115430 16 Feb 2016 Disease Carpal tunnel syndrome, familial NCBI curation C3468338 16 Feb 2016 Disease Carpal/tarsal fusion 06 Nov 2018 Finding Carpenter Hunter type 16 Feb 2016 Disease Carpenter syndrome OMIM phenotypic series C1275078 PS201000 16 Feb 2016 Disease Carpenter syndrome 1 NCBI curation C4551510 201000 16 Feb 2016 Disease Carpenter syndrome 2 NCBI curation C3554247 614976 16 Feb 2016 Disease Carpo tarsal osteolysis recessive 16 Feb 2016 Disease Carpometacarpal synostosis Human Phenotype Ontology C4022145 HP:0100328 16 Feb 2016 Finding Carpotarsal osteochondromatosis C1851956 127820 16 Feb 2016 Disease Carrier screening and segregation analysis CN235623 24 Mar 2016 Finding Cartilage cancer MONDO MONDO:0000639 17 Apr 2020 Disease Cartilage destruction Human Phenotype Ontology C4021973 HP:0100773 16 Feb 2016 Finding Cartilage development disorder MONDO C0008449 MONDO:0020779 17 Apr 2020 Disease Cartilage disease MONDO C0007302 MONDO:0005569 17 Apr 2020 Disease Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders CN118832 16 Feb 2016 Disease Cartilaginous cancer 16 Feb 2016 Disease Cartilaginous ossification of larynx Human Phenotype Ontology C1855622 HP:0008747 16 Feb 2016 Finding Cartilaginous ossification of nose Human Phenotype Ontology C1855616 HP:0005275 16 Feb 2016 Finding Cartilaginous trachea Human Phenotype Ontology C1863363 HP:0005347 16 Feb 2016 Finding Cartwright Nelson Fryns syndrome C2931062 16 Feb 2016 Disease Carvedilol response NCBI curation CN077965 16 Feb 2016 Pharmacological response Cascade stomach MONDO C0267183 MONDO:0001469 17 Apr 2020 Disease CASK-Related Disorder 13 Oct 2017 Disease Cassavism 16 Feb 2016 Disease Castleman's disease NCBI curation CN199886 16 Feb 2016 Disease Castro Gago Pombo Novo syndrome 16 Feb 2016 Disease Cat cry Human Phenotype Ontology C0234861 HP:0200046 16 Feb 2016 Finding Cat disease MONDO C0007350 MONDO:0024912 17 Apr 2020 Disease Cat eye syndrome C0265493 115470 16 Feb 2016 Disease Cat Rodrigues syndrome 16 Feb 2016 Disease Cat scratch disease C0007361 16 Feb 2016 Infectious disease Catamenial pneumothorax C0340007 16 Feb 2016 Disease Cataplexy Human Phenotype Ontology C0007384 HP:0002524 16 Feb 2016 Disease Cataplexy and narcolepsy NCBI curation C0751362 16 Feb 2016 Disease Cataract (disease) MONDO C0086543 MONDO:0005129 17 Apr 2020 Disease Cataract - glaucoma MONDO MONDO:0022676 17 Apr 2020 Disease Cataract 1 NCBI curation C1861828 116200 16 Feb 2016 Disease Cataract 11 NCBI curation C1864567 610623 24 Jul 2018 Disease Cataract 11 with microphthalmia and neurodevelopmental abnormalities NCBI curation C3808029 16 Feb 2016 Disease Cataract 11, posterior polar NCBI curation C3807150 29 Jan 2017 Disease Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities NCBI curation C3807151 29 Jan 2017 Disease Cataract 11, syndromic, autosomal recessive CN260141 19 Jun 2019 Disease Cataract 12, multiple types NCBI curation C3808115 611597 26 Dec 2017 Disease Cataract 13 with adult i phenotype NCBI curation C3805373 116700 16 Feb 2016 Disease Cataract 15, multiple types NCBI curation C3809001 615274 16 Feb 2016 Disease Cataract 16, multiple types NCBI curation C3808377 613763 24 Aug 2016 Disease Cataract 18 MONDO C1864908 MONDO:0012395 610019 22 Apr 2020 Disease Cataract 19, multiple types NCBI curation C3809004 615277 24 Aug 2016 Disease Cataract 2, Coppock-like NCBI curation C4015995 09 Jan 2017 Disease Cataract 20 multiple types MONDO C3805410 MONDO:0007284 116100 22 Apr 2020 Disease Cataract 21, multiple types NCBI curation C3888097 610202 26 Dec 2017 Disease Cataract 22 CN260142 19 Jun 2019 Disease Cataract 23, multiple types NCBI curation C3808012 610425 20 Jun 2017 Disease Cataract 24 MONDO C1832609 MONDO:0011015 601202 22 Apr 2020 Disease Cataract 25 NCBI curation C1854021 605728 24 Aug 2016 Disease Cataract 26, multiple types NCBI curation C1854003 605749 24 Aug 2016 Disease Cataract 27 NCBI curation C1846520 607304 24 Aug 2016 Disease Cataract 28 NCBI curation C1836942 609026 16 Feb 2016 Disease Cataract 29 NCBI curation C3805409 115800 24 Aug 2016 Disease Cataract 3, multiple types NCBI curation C1832175 601547 24 Aug 2016 Disease Cataract 30 NCBI curation C3805411 116300 26 Dec 2017 Disease Cataract 31 multiple types MONDO C1854311 MONDO:0011547 605387 22 Apr 2020 Disease Cataract 32 NCBI curation C3887926 115650 16 Feb 2016 Disease Cataract 33, multiple types NCBI curation C3808107 611391 26 Dec 2017 Disease Cataract 34, multiple types NCBI curation C2751822 612968 24 Aug 2016 Disease Cataract 35 NCBI curation C1836272 609376 24 Aug 2016 Disease Cataract 37 NCBI curation C3280758 614422 24 Aug 2016 Disease Cataract 38, autosomal recessive CN260143 19 Jun 2019 Disease Cataract 39, multiple types NCBI curation C3808800 615188 16 Feb 2016 Disease Cataract 39, multiple types, autosomal dominant CN260144 19 Jun 2019 Disease Cataract 4 NCBI curation C3540850 115700 15 Oct 2018 Disease Cataract 40 NCBI curation C4049004 302200 16 Feb 2016 Disease Cataract 40, X-linked CN260042 19 Jun 2019 Disease Cataract 41 NCBI curation C3805412 116400 24 Aug 2016 Disease Cataract 42 CN260043 19 Jun 2019 Disease Cataract 43 NCBI curation C4225389 616279 16 Feb 2016 Disease Cataract 44 NCBI curation C4225300 616509 16 Feb 2016 Disease Cataract 45 NCBI curation C4225182 616851 26 Feb 2017 Disease Cataract 47, juvenile, with microcornea CN260044 19 Jun 2019 Disease CATARACT 48 OMIM C5193082 618415 618415 08 May 2019 Disease Cataract 5 multiple types MONDO C3888417 MONDO:0007290 116800 22 Apr 2020 Disease Cataract 6, age-related cortical NCBI curation C4016349 24 Aug 2016 Disease Cataract 6, multiple types NCBI curation C1861825 116600 24 Aug 2016 Disease Cataract 8 multiple types MONDO C1861833 MONDO:0007280 115665 22 Apr 2020 Disease Cataract 9, autosomal recessive NCBI curation C4015984 18 Sep 2016 Disease Cataract congenital autosomal dominant 16 Feb 2016 Disease Cataract Hutterite type NCBI curation C0220721 212500 16 Feb 2016 Disease Cataract hypertrichosis mental retardation 16 Feb 2016 Disease Cataract mental retardation hypogonadism 16 Feb 2016 Disease Cataract microphthalmia septal defect 16 Feb 2016 Disease Cataract skeletal anomalies 16 Feb 2016 Disease Cataract with late-onset corneal dystrophy CN178062 16 Feb 2016 Disease Cataract, ataxia, short stature, and mental retardation MONDO C1845094 MONDO:0010380 300619 22 Apr 2020 Disease Cataract, autosomal dominant NCBI curation C1858679 604219 16 Feb 2016 Disease Cataract, Autosomal Dominant Congenital 4 CN230134 16 Feb 2016 Disease Cataract, autosomal dominant nuclear NCBI curation C1852449 16 Feb 2016 Disease Cataract, autosomal dominant, multiple types, with microcornea NCBI curation CN071376 16 Feb 2016 Disease Cataract, autosomal recessive congenital 1 NCBI curation C3888098 16 Feb 2016 Disease Cataract, autosomal recessive congenital 4 NCBI curation C3151304 613887 16 Feb 2016 Disease Cataract, autosomal recessive congenital 5 NCBI curation C3553494 614691 16 Feb 2016 Disease Cataract, congenital nuclear, autosomal recessive 2 NCBI curation C1857853 609741 16 Feb 2016 Disease Cataract, congenital nuclear, autosomal recessive 3 NCBI curation C3888124 611544 16 Feb 2016 Disease Cataract, congenital zonular, with sutural opacities NCBI curation C1833229 600881 16 Feb 2016 Disease Cataract, congenital, cerulean type, 4 NCBI curation C1857768 16 Feb 2016 Disease Cataract, congenital, with late-onset corneal dystrophy NCBI curation CN185382 16 Feb 2016 Disease Cataract, congenital, with mental impairment and dentate gyrus atrophy NCBI curation C1843257 607674 16 Feb 2016 Disease Cataract, congenital, with microcornea or slight microphthalmia 16 Feb 2016 Disease Cataract, coppock-like NCBI curation C4721890 604307 16 Feb 2016 Disease Cataract, cortical pulverulent, late-onset NCBI curation C1835169 16 Feb 2016 Disease Cataract, floriform NCBI curation C4011454 115900 16 Feb 2016 Disease Cataract, juvenile, with microcornea and glucosuria NCBI curation C4310806 612018 16 Feb 2016 Disease Cataract, polymorphic and lamellar NCBI curation C1835166 16 Feb 2016 Disease Cataract, progressive polymorphic cortical NCBI curation C1852420 16 Feb 2016 Disease Cataract, pulverulent NCBI curation C1833118 16 Feb 2016 Disease Cataract, punctate, progressive juvenile-onset NCBI curation C3888390 16 Feb 2016 Disease Cataract, variable zonular pulverulent NCBI curation C1852429 16 Feb 2016 Disease Cataract, zonular central nuclear NCBI curation C1852447 16 Feb 2016 Disease Cataract-aberrant oral frenula-growth delay syndrome MONDO C1861835 MONDO:0007277 115645 17 Apr 2020 Disease Cataract-ataxia-deafness syndrome MONDO C0796123 MONDO:0008928 212710 22 Apr 2020 Disease Cataract-deafness-hypogonadism syndrome MONDO C2931269 MONDO:0015325 17 Apr 2020 Disease Cataract-glaucoma 16 Feb 2016 Disease Cataract-glaucoma syndrome MONDO C4305131 MONDO:0015567 17 Apr 2020 Disease Cataract-hypertrichosis-intellectual disability syndrome MONDO C0796282 MONDO:0008894 211770 17 Apr 2020 Disease Cataract-intellectual disability-anal atresia-urinary defects syndrome MONDO C2931391 MONDO:0015324 17 Apr 2020 Disease Cataract-intellectual disability-hypogonadism syndrome MONDO C0796037 MONDO:0008929 212720 17 Apr 2020 Disease Cataract-microcephaly-failure to thrive-kyphoscoliosis C1859312 212540 16 Feb 2016 Disease Cataract-nephropathy-encephalopathy syndrome MONDO C0795914 MONDO:0009045 218900 17 Apr 2020 Disease Cataracts, Autosomal Dominant CN118822 16 Feb 2016 Disease Cataracts, congenital, with late-onset corneal dystrophy NCBI curation C3805349 16 Feb 2016 Disease Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia NCBI curation C4014942 616007 16 Feb 2016 Disease Catatrichy C1861799 116850 16 Feb 2016 Disease Catechol-o-methyltransferase activity, low, in red cells NCBI curation 16 Feb 2016 Disease Catechol-o-methyltransferase deficiency CN235212 19 Feb 2016 Disease CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM 16 Feb 2016 Disease Catecholamine hypertension 16 Feb 2016 Disease Catecholamine-producing tumor MONDO MONDO:0019116 17 Apr 2020 Disease Catecholaminergic polymorphic ventricular tachycardia Orphanet C1631597 ORPHA3286 25 Mar 2016 Disease Catecholaminergic polymorphic ventricular tachycardia type 1 NCBI curation C4053736 604772 13 Oct 2017 Disease Catel Manzke syndrome NCBI curation C1844887 616145 16 Feb 2016 Disease CATIFA SYNDROME OMIM C5231492 618761 618761 08 Feb 2020 Disease Cattle disease MONDO C0007453 MONDO:0024913 17 Apr 2020 Disease Cauda equina cancer MONDO C0349017 MONDO:0037738 17 Apr 2020 Disease Cauda equina intradural extramedullary astrocytoma MONDO C1334254 MONDO:0003163 17 Apr 2020 Disease Cauda equina neoplasm MONDO C1263892 MONDO:0003164 17 Apr 2020 Disease Cauda equina syndrome MONDO C0392548 MONDO:0005693 17 Apr 2020 Disease Cauda equina syndrome with neurogenic bladder MONDO C0007459 MONDO:0020767 17 Apr 2020 Disease Caudal appendage Human Phenotype Ontology C3277117 HP:0002825 16 Feb 2016 Finding Caudal appendage deafness 16 Feb 2016 Disease Caudal appendage-deafness syndrome MONDO C2931593 MONDO:0015233 17 Apr 2020 Disease Caudal duplication 16 Feb 2016 Disease Caudal duplication anomaly NCBI curation C1842884 607864 16 Feb 2016 Disease Caudal dysgenesis syndrome NCBI curation C1838569 16 Feb 2016 Disease Caudal interpedicular narrowing Human Phenotype Ontology C1863734 HP:0008457 16 Feb 2016 Finding Caudal regression sequence MONDO C1838568 MONDO:0017607 600145 17 Apr 2020 Disease Caudal regression syndrome C0300948 16 Feb 2016 Disease Caudal regression-sirenomelia spectrum MONDO CN261251 MONDO:0018639 17 Apr 2020 Disease Caudate atrophy Human Phenotype Ontology C1858116 HP:0002340 16 Feb 2016 Finding Cauliflower deformity of dermal collagen fibrils Human Phenotype Ontology C4531068 HP:0031519 04 Apr 2018 Finding Caused by mutation in the adaptor-related protein complex 4, beta-1 subunit gene NCBI curation C3279741 16 Feb 2016 Finding Caused by mutation in the tafazzin gene NCBI curation C3551007 08 Nov 2017 Finding Caused by mutation in the TBC1 domain family, member 24 NCBI curation C3809181 17 Jul 2016 Finding Caused by mutation in the transportin 3 gene (TNPO3, 610032.0001) C4013182 27 Apr 2018 Finding Caused by mutation in the zinc finger- and BTB domain-containing protein-42 (ZBTB42, 613915.0001) C4015693 27 Apr 2018 Finding Caveolinopathy Orphanet CN043575 ORPHA207078 06 Mar 2016 Disease Cavernous hemangioma Human Phenotype Ontology C0018920 HP:0001048 16 Feb 2016 Finding Cavernous hemangioma of colon MONDO C1333086 MONDO:0003644 17 Apr 2020 Disease Cavernous hemangioma of orbit MONDO C0346352 MONDO:0001975 17 Apr 2020 Disease Cavernous hemangioma of the face Human Phenotype Ontology C1332863 HP:0007486 16 Feb 2016 Finding Cavernous hemangiomas of face-supraumbilical midline raphe syndrome MONDO C0472694 MONDO:0007706 140850 17 Apr 2020 Disease Cavernous lymphangioma 16 Feb 2016 Disease Cavernous malformations of CNS and retina NCBI curation C1861785 16 Feb 2016 Disease Cavernous Sinus Meningioma C1332865 26 Jun 2019 Disease Cavernous sinus thrombosis MONDO C0238454 MONDO:0002694 17 Apr 2020 Disease Cavitary myiasis MONDO C4707154 MONDO:0015623 04 Jun 2020 Infectious disease Cavitary optic disc anomalies NCBI curation C1969063 611543 16 Feb 2016 Disease Cavitation of the basal ganglia Human Phenotype Ontology C4024952 HP:0007007 16 Feb 2016 Finding Cavum septum pellucidum Human Phenotype Ontology C1840380 HP:0002389 16 Feb 2016 Finding CBX2-related complete gonadal dysgenesis CN860315 13 Mar 2018 Disease CC2D2A-Related Disorders CN239313 02 Dec 2016 Disease CCA syndrome 16 Feb 2016 Disease CCAL1 OMIM C1833499 600668 600668 17 Apr 2020 Disease CCAL1 MONDO C1833499 MONDO:0010917 600668 17 Apr 2020 Disease CCDC115-CDG MONDO C4225191 MONDO:0014789 616828 17 Apr 2020 Disease Ccge syndrome 16 Feb 2016 Disease CCR5 POLYMORPHISM, AFRICAN-AMERICAN 16 Feb 2016 Disease CCR5 POLYMORPHISM, ORIENTAL 1 16 Feb 2016 Disease CCR5 POLYMORPHISM, ORIENTAL 2 16 Feb 2016 Disease CCR5 PROMOTER POLYMORPHISM 16 Feb 2016 Disease CD3 deficiency 16 Feb 2016 Disease CD3epsilon deficiency MONDO MONDO:0024597 17 Apr 2020 Disease CD4 deficiency 16 Feb 2016 Disease CD4+/CD56+ hematodermic neoplasm MONDO C1301363 MONDO:0019467 17 Apr 2020 Disease CD4/CD8 T-cell ratio NCBI curation C1832816 601083 16 Feb 2016 Disease CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy NCBI curation C2676767 612300 16 Sep 2018 Disease Cd8 deficiency, familial NCBI curation C1837065 608957 16 Feb 2016 Disease CD99 Positive Neoplastic Cells Present C1707106 14 Jun 2019 Finding CDC42BPB-related neurodevelopmental syndrome 19 Nov 2019 Disease CDC73-Related Disorders CN169292 16 Feb 2016 Disease CDG syndrome type 3 16 Feb 2016 Disease CDG syndrome type 4 16 Feb 2016 Disease CDH2-related condition 10 Jan 2020 Finding CDH23-Related Disorders CN239227 02 Dec 2016 Disease CDK4 linked melanoma 16 Feb 2016 Disease CDK8-kinase module-associated disorder 13 Dec 2018 Disease CDKL5 disorder MONDO MONDO:0100039 17 Apr 2020 Disease CDKL5-related disorder 07 May 2020 Finding CEBALID SYNDROME OMIM CN263278 618774 618774 16 Feb 2020 Disease Cecal disease MONDO C0007527 MONDO:0002031 17 Apr 2020 Disease Cecal neoplasm MONDO C0007528 MONDO:0005694 17 Apr 2020 Disease Cecato De lima Pinheiro syndrome 16 Feb 2016 Disease Cecum adenocarcinoma MONDO C1332866 MONDO:0006028 17 Apr 2020 Disease Cecum cancer MONDO C0153437 MONDO:0002033 17 Apr 2020 Disease Cecum carcinoma MONDO C0149640 MONDO:0006029 17 Apr 2020 Disease Cecum lymphoma MONDO C1332867 MONDO:0002034 17 Apr 2020 Disease Cecum neuroendocrine tumor G1 MONDO C0854488 MONDO:0006126 17 Apr 2020 Disease Cecum villous adenoma MONDO C1332869 MONDO:0000525 17 Apr 2020 Disease CED 16 Aug 2017 Finding CEDNIK syndrome MONDO C1836033 MONDO:0012290 609528 22 Apr 2020 Disease Celecoxib response NCBI curation CN077966 16 Feb 2016 Pharmacological response celecoxib response - Dosage PharmGKB CN236497 827862258 18 May 2016 Pharmacological response celecoxib response - Toxicity/ADR PharmGKB CN236498 981238437 18 May 2016 Pharmacological response Celiac artery compression Human Phenotype Ontology C1861783 HP:0012327 116870 04 Apr 2018 Disease Celiac disease OMIM phenotypic series C0007570 PS212750 16 Feb 2016 Disease Celiac disease Human Phenotype Ontology C0007570 HP:0002608 16 Feb 2016 Disease Celiac disease 1 NCBI curation C1859310 212750 16 Feb 2016 Disease Celiac disease 10 NCBI curation C2677604 612008 16 Feb 2016 Disease Celiac disease 11 NCBI curation C2677603 612009 16 Feb 2016 Disease Celiac disease 12 NCBI curation C2677602 612010 16 Feb 2016 Disease Celiac disease 13 NCBI curation C2677601 612011 16 Feb 2016 Disease Celiac disease 2 NCBI curation C1857846 609754 16 Feb 2016 Disease Celiac disease 3 NCBI curation C1857845 609755 16 Feb 2016 Disease Celiac disease 4 NCBI curation C1857847 609753 16 Feb 2016 Disease Celiac disease 5 NCBI curation C1846631 607202 16 Feb 2016 Disease Celiac disease 6 NCBI curation C1969030 611598 16 Feb 2016 Disease Celiac disease 7 NCBI curation C2677607 612005 16 Feb 2016 Disease Celiac disease 8 NCBI curation C2677606 612006 16 Feb 2016 Disease Celiac disease 9 NCBI curation C2677605 612007 16 Feb 2016 Disease Celiac disease epilepsy occipital calcifications 16 Feb 2016 Disease Celiac disease, susceptibility to CN260045 19 Jun 2019 Disease Celiac disease-epilepsy-cerebral calcification syndrome MONDO C1856930 MONDO:0009187 226810 17 Apr 2020 Disease Cell proliferation disorder MONDO MONDO:0045024 17 Apr 2020 Disease Cellular congenital mesoblastic nephroma MONDO C1516474 MONDO:0004454 17 Apr 2020 Disease Cellular ependymoma MONDO C1384403 MONDO:0003470 17 Apr 2020 Disease Cellular immunodeficiency Human Phenotype Ontology C1855204 HP:0005374 16 Feb 2016 Finding Cellular leiomyoma MONDO C0334477 MONDO:0003296 17 Apr 2020 Disease Cellular metachromasia Human Phenotype Ontology C4025583 HP:0003653 16 Feb 2016 Finding Cellular mosaicism NCBI curation C0333678 16 Feb 2016 Disease Cellular neurofibroma MONDO C1516371 MONDO:0003305 17 Apr 2020 Disease Cellular phase chronic idiopathic myelofibrosis MONDO C1516553 MONDO:0004463 17 Apr 2020 Disease Cellular schwannoma MONDO C0431124 MONDO:0002548 17 Apr 2020 Disease Cellular urinary casts Human Phenotype Ontology C0541823 HP:0031197 04 Apr 2018 Finding Cellulitis Human Phenotype Ontology C0007642 HP:0100658 16 Feb 2016 Finding Cellulitis (disease) MONDO CN281759 MONDO:0005230 04 Jun 2020 Infectious disease Cellulitis due to immunodeficiency C1844382 16 Feb 2016 Finding Cementoma Human Phenotype Ontology C0007659 HP:0012328 16 Feb 2016 Finding Cenani-Lenz syndactyly syndrome MONDO C1859309 MONDO:0008931 212780 22 Apr 2020 Disease Cennamo Gangemi syndrome 16 Feb 2016 Disease CENPJ-Related Disorders 23 May 2019 Disease Central adrenal insufficiency Human Phenotype Ontology C0948387 HP:0011734 16 Feb 2016 Finding Central apnea Human Phenotype Ontology C3887548 HP:0002871 16 Feb 2016 Disease central auditory processing disorder C0751257 18 Jan 2019 Finding Central bilateral macrogyria MONDO C4303949 MONDO:0016572 17 Apr 2020 Disease Central breast papilloma MONDO C1332896 MONDO:0004505 17 Apr 2020 Disease Central centrifugal cicatricial alopecia NCBI curation C1274708 618352 21 Dec 2018 Disease Central cloudy dystrophy of Francois NCBI curation C1622427 217600 16 Feb 2016 Disease Central core disease, autosomal recessive NCBI curation C4016368 16 Feb 2016 Disease Central core myopathy MONDO C0751951 MONDO:0007294 117000 22 Apr 2020 Disease Central core regions in muscle fibers Human Phenotype Ontology C4022568 HP:0030230 16 Feb 2016 Finding Central corneal dystrophy Human Phenotype Ontology C4024778 HP:0007881 16 Feb 2016 Finding Central corneal ulcer MONDO C0155069 MONDO:0004918 17 Apr 2020 Disease Central diaphragmatic hernia Human Phenotype Ontology C4476646 HP:0025195 02 Apr 2017 Finding Central fundal arteriolar microaneurysms Human Phenotype Ontology C4024755 HP:0008014 16 Feb 2016 Finding Central hearing loss MONDO C0018776 MONDO:0020707 17 Apr 2020 Disease Central heterochromia Human Phenotype Ontology C4021567 HP:0007818 16 Feb 2016 Finding Central hypothyroidism Human Phenotype Ontology C0271801 HP:0011787 16 Feb 2016 Finding Central hypotonia Human Phenotype Ontology C1842364 HP:0011398 16 Feb 2016 Finding Central hypoventilation Human Phenotype Ontology C3805839 HP:0007110 16 Feb 2016 Finding Central hypoventilation syndrome, congenital, with hirschsprung disease NCBI curation 16 Feb 2016 Disease Central hypoventilation syndrome, late-onset NCBI curation C1859050 16 Feb 2016 Disease Central incisors, absence of NCBI curation C1844886 302400 16 Feb 2016 Disease Central nail canal Human Phenotype Ontology C0263526 HP:0030818 02 Apr 2017 Finding Central nervous system AIDS arteritis MONDO CN281771 MONDO:0005695 04 Jun 2020 Infectious disease Central nervous system anaplastic large cell lymphoma MONDO C1335476 MONDO:0006128 17 Apr 2020 Disease Central nervous system angiosarcoma MONDO C1332875 MONDO:0003021 17 Apr 2020 Disease Central nervous system calcification-deafness-tubular acidosis-anemia syndrome MONDO C4512024 MONDO:0017924 17 Apr 2020 Disease Central nervous system cancer MONDO MONDO:0002714 17 Apr 2020 Disease Central nervous system chondroma MONDO C1333019 MONDO:0002779 17 Apr 2020 Disease Central nervous system cyst Human Phenotype Ontology C0349606 HP:0030724 02 Apr 2017 Finding Central nervous system cystic malformation MONDO CN227081 MONDO:0017104 17 Apr 2020 Disease Central nervous system degeneration Human Phenotype Ontology C3277687 HP:0007009 16 Feb 2016 Finding Central nervous system endodermal sinus tumor MONDO MONDO:0003401 17 Apr 2020 Disease Central nervous system extraskeletal osteosarcoma MONDO C1335150 MONDO:0004423 17 Apr 2020 Disease Central nervous system fibrosarcoma MONDO C1332879 MONDO:0003882 17 Apr 2020 Disease Central nervous system germ cell tumor MONDO C1332880 MONDO:0003000 17 Apr 2020 Disease Central nervous system germinoma MONDO C1333813 MONDO:0002999 17 Apr 2020 Disease Central nervous system hemangioma MONDO C1333957 MONDO:0003241 17 Apr 2020 Disease Central nervous system hematopoietic neoplasm MONDO C1332882 MONDO:0003641 17 Apr 2020 Disease Central nervous system hibernoma MONDO C1708362 MONDO:0003943 17 Apr 2020 Disease Central nervous system immature teratoma MONDO C1332883 MONDO:0003735 17 Apr 2020 Disease Central nervous system leiomyoma MONDO C1334382 MONDO:0003287 17 Apr 2020 Disease Central nervous system leiomyosarcoma MONDO C1334385 MONDO:0003349 17 Apr 2020 Disease Central nervous system leukemia MONDO C1332884 MONDO:0001606 17 Apr 2020 Disease Central nervous system lipoma MONDO C1332885 MONDO:0003844 17 Apr 2020 Disease Central nervous system lupus MONDO C0752332 MONDO:0043985 17 Apr 2020 Disease Central nervous system lymphoma, primary 16 Feb 2016 Disease Central nervous system malformation MONDO CN227733 MONDO:0020022 17 Apr 2020 Disease Central nervous system mature teratoma MONDO C1332886 MONDO:0003733 17 Apr 2020 Disease Central nervous system melanocytic neoplasm MONDO C1332887 MONDO:0003222 17 Apr 2020 Disease Central nervous system mesenchymal non-meningothelial tumor MONDO C1332893 MONDO:0003244 17 Apr 2020 Disease Central nervous system neoplasm MONDO MONDO:0006130 17 Apr 2020 Disease Central nervous system non-hodgkin lymphoma MONDO C2213246 MONDO:0044887 17 Apr 2020 Disease Central nervous system nongerminomatous germ cell tumor MONDO C1696109 MONDO:0020574 17 Apr 2020 Disease Central nervous system organ benign neoplasm MONDO MONDO:0000628 17 Apr 2020 Disease Central nervous system origin vertigo MONDO C0155503 MONDO:0002317 17 Apr 2020 Disease Central nervous system primitive neuroectodermal neoplasm MONDO MONDO:0000640 17 Apr 2020 Disease Central nervous system protozoal infections 16 Feb 2016 Disease Central nervous system rhabdomyosarcoma MONDO C1332891 MONDO:0002850 17 Apr 2020 Disease Central nervous system sarcoma MONDO C1332892 MONDO:0002217 17 Apr 2020 Disease Central nervous system teratoma MONDO C1332895 MONDO:0002718 17 Apr 2020 Disease Central nervous system tuberculosis MONDO C0275904 MONDO:0005696 04 Jun 2020 Infectious disease Central nervous system vasculitis MONDO C0751878 MONDO:0003346 17 Apr 2020 Disease Central neurocytoma C0206719 16 Feb 2016 Disease Central opacification of the cornea Human Phenotype Ontology C4023327 HP:0011493 16 Feb 2016 Finding Central polydactyly of fingers MONDO C0431903 MONDO:0017456 17 Apr 2020 Disease Central polydactyly of fingers, bilateral MONDO MONDO:0017536 17 Apr 2020 Disease Central polydactyly of fingers, unilateral MONDO MONDO:0017535 17 Apr 2020 Disease Central polydactyly of toes MONDO MONDO:0017459 17 Apr 2020 Disease Central polydactyly of toes, bilateral MONDO MONDO:0017542 17 Apr 2020 Disease Central polydactyly of toes, unilateral MONDO MONDO:0017541 17 Apr 2020 Disease Central pontine myelinolysis MONDO C0206083 MONDO:0006692 17 Apr 2020 Disease Central post-stroke pain 16 Feb 2016 Disease Central posterior corneal opacity Human Phenotype Ontology C0423260 HP:0008511 16 Feb 2016 Finding Central precocious puberty C0342543 19 Jan 2020 Disease Central primitive neuroectodermal tumor Human Phenotype Ontology C3887678 HP:0030070 16 Feb 2016 Finding Central pterygium MONDO C0155156 MONDO:0001722 17 Apr 2020 Disease Central retinal artery occlusion Human Phenotype Ontology C0007688 HP:0025342 02 Apr 2017 Finding Central retinal exudate Human Phenotype Ontology C4024793 HP:0007822 16 Feb 2016 Finding Central retinal vein occlusion MONDO C0154841 MONDO:0002303 17 Apr 2020 Disease Central retinal vein occlusion with macular edema MONDO MONDO:0041093 17 Apr 2020 Disease Central retinal vessel vascular tortuosity Human Phenotype Ontology C4021569 HP:0007768 16 Feb 2016 Finding Central scotoma Human Phenotype Ontology C0152191 HP:0000603 16 Feb 2016 Finding Central serous chorioretinopathy C0730328 16 Feb 2016 Disease Central sleep apnea Human Phenotype Ontology CN911512 HP:0010536 04 Apr 2018 Finding Central sleep apnea caused by high altitude MONDO C4075997 MONDO:0024360 17 Apr 2020 Disease Central sleep apnea due to periodic breathing MONDO C3662057 MONDO:0024359 17 Apr 2020 Disease Central sleep apnea syndrome NCBI curation C0520680 107640 16 Feb 2016 Disease Central sleep apnea syndrome NCBI curation C0520680 207720 16 Feb 2016 Disease Central vertebral hypoplasia Human Phenotype Ontology C4024672 HP:0008463 16 Feb 2016 Finding central visual impairment C3810365 18 Jan 2019 Finding Central Y-shaped metacarpal Human Phenotype Ontology C1848597 HP:0006145 16 Feb 2016 Finding Centrally nucleated skeletal muscle fibers Human Phenotype Ontology C1842170 HP:0003687 16 Feb 2016 Finding Centrifugal lipodystrophy MONDO CN227648 MONDO:0019552 17 Apr 2020 Disease Centrilobular ground-glass opacification on pulmonary HRCT Human Phenotype Ontology C4476640 HP:0025180 04 Apr 2018 Finding Centripetalis recessive dystrophic epidermolysis bullosa MONDO C4511056 MONDO:0019521 17 Apr 2020 Disease Centrocecal scotoma Human Phenotype Ontology C0271196 HP:0000576 16 Feb 2016 Finding Centromeric instability immunodeficiency syndrome 16 Feb 2016 Disease Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency C0398788 01 Feb 2020 Disease Centronuclear myopathy MONDO C0175709 MONDO:0018947 07 Jun 2020 Disease Centronuclear myopathy, autosomal, modifier of CN259059 14 Jun 2019 Disease Centronuclear Myopathy, Dominant CN239281 02 Dec 2016 Disease CEP152-Related Disorders CN239248 02 Dec 2016 Disease CEP290-related ciliopathies 13 Oct 2017 Disease CEP290-Related Disorders CN239314 02 Dec 2016 Disease Cephalin lipidosis NCBI curation C1859307 212800 16 Feb 2016 Disease Cephalocele Human Phenotype Ontology C0014065 HP:0011815 16 Feb 2016 Finding Cephalohematoma Human Phenotype Ontology C0007722 HP:0012541 16 Feb 2016 Finding Cerebellar agenesis Human Phenotype Ontology C4022808 HP:0012642 16 Feb 2016 Disease Cerebellar astrocytoma MONDO C0740480 MONDO:0003165 17 Apr 2020 Disease Cerebellar astrocytoma, childhood 16 Feb 2016 Disease Cerebellar ataxia Human Phenotype Ontology C0007758 HP:0001251 10 Apr 2018 Disease Cerebellar ataxia and hypergonadotropic hypogonadism NCBI curation C1854064 605672 16 Feb 2016 Disease Cerebellar ataxia and mental retardation with quadrupedal locomotion 1 NCBI curation C4016431 16 Feb 2016 Disease Cerebellar ataxia and neurosensory deafness NCBI curation C1859304 212850 16 Feb 2016 Disease Cerebellar ataxia associated with quadrupedal gait Human Phenotype Ontology C4024175 HP:0009878 16 Feb 2016 Finding Cerebellar ataxia infantile with progressive external ophthalmoplegia C4225153 258450 16 Feb 2016 Disease Cerebellar ataxia type 9 MONDO C3887996 MONDO:0013029 612876 17 Apr 2020 Disease Cerebellar ataxia with peripheral neuropathy MONDO CN229028 MONDO:0016136 17 Apr 2020 Disease Cerebellar ataxia, benign, with thermoanalgesia NCBI curation C1859303 212890 16 Feb 2016 Disease Cerebellar ataxia, cataract, and diabetes mellitus NCBI curation C4016628 16 Feb 2016 Disease Cerebellar ataxia, Cayman type NCBI curation C1832585 601238 16 Aug 2018 Disease Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant NCBI curation C3807295 604121 24 Aug 2016 Disease Cerebellar ataxia, dominant pure 16 Feb 2016 Disease Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 NCBI curation C4551552 224050 23 May 2016 Disease Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 NCBI curation C2750234 610185 23 May 2016 Disease Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 NCBI curation C2750509 613227 16 Feb 2016 Disease Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 NCBI curation C3808977 615268 16 Feb 2016 Disease Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome NCBI curation C3281223 614575 16 Feb 2016 Disease Cerebellar ataxia, nonprogressive, with mental retardation NCBI curation C3553661 614756 16 Feb 2016 Disease Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome MONDO C1832466 MONDO:0011038 601338 17 Apr 2020 Disease Cerebellar ataxia-ectodermal dysplasia syndrome MONDO C1859306 MONDO:0008934 212835 17 Apr 2020 Disease Cerebellar atrophy Human Phenotype Ontology C0740279 HP:0001272 16 Feb 2016 Finding CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY OMIM C5193132 618501 618501 24 Jul 2019 Disease CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES OMIM C4539985 617643 617643 31 Aug 2017 Disease Cerebellar atrophy, visual impairment, and psychomotor retardation NCBI curation C4225172 616875 26 May 2016 Disease Cerebellar calcifications Human Phenotype Ontology C1851431 HP:0007352 16 Feb 2016 Finding Cerebellar cortical atrophy Human Phenotype Ontology C4024710 HP:0008278 16 Feb 2016 Finding Cerebellar cyst Human Phenotype Ontology C1847762 HP:0002350 16 Feb 2016 Finding Cerebellar degeneration C0262404 16 Feb 2016 Disease Cerebellar degeneration, subacute 16 Feb 2016 Disease Cerebellar disease MONDO C0007760 MONDO:0002427 17 Apr 2020 Disease Cerebellar dysplasia Human Phenotype Ontology C3278322 HP:0007033 16 Feb 2016 Finding cerebellar dystrophy 21 Jul 2017 Finding Cerebellar edema Human Phenotype Ontology C4316985 HP:0030915 04 Apr 2018 Finding Cerebellar glioma Human Phenotype Ontology C4023700 HP:0010795 16 Feb 2016 Finding Cerebellar gliosis Human Phenotype Ontology C4022768 HP:0012698 16 Feb 2016 Finding Cerebellar granular layer atrophy Human Phenotype Ontology C4023054 HP:0012080 16 Feb 2016 Finding Cerebellar granule cell hypertrophy and megalencephaly NCBI curation 16 Feb 2016 Disease Cerebellar hemangioblastoma Human Phenotype Ontology C1332900 HP:0006880 04 Apr 2018 Disease Cerebellar hemisphere hypoplasia Human Phenotype Ontology C4022154 HP:0100307 16 Feb 2016 Finding Cerebellar hemorrhage Human Phenotype Ontology C0149854 HP:0011695 16 Feb 2016 Finding Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 CN233038 16 Feb 2016 Disease Cerebellar hypoplasia tapetoretinal degeneration 16 Feb 2016 Disease Cerebellar hypoplasia with endosteal sclerosis NCBI curation C1859301 213002 20 Jun 2017 Disease Cerebellar hypoplasia-tapetoretinal degeneration syndrome MONDO CN201295 MONDO:0016392 17 Apr 2020 Disease Cerebellar liponeurocytoma C1370507 16 Feb 2016 Disease Cerebellar malformation Human Phenotype Ontology C4025708 HP:0002438 16 Feb 2016 Finding Cerebellar medulloblastoma Human Phenotype Ontology C4024934 HP:0007129 16 Feb 2016 Finding Cerebellar neoplasm MONDO C0007762 MONDO:0002913 17 Apr 2020 Disease Cerebellar parenchymal degeneration 16 Feb 2016 Disease Cerebellar pilocytic astrocytoma MONDO C0349620 MONDO:0003168 17 Apr 2020 Disease Cerebellar Purkinje layer atrophy Human Phenotype Ontology C4023053 HP:0012082 16 Feb 2016 Finding Cerebellar vermis aplasia with associated features suggesting Smith-Lemli-Opitz syndrome and Meckel syndrome NCBI curation C1859300 213010 16 Feb 2016 Disease Cerebellar vermis atrophy Human Phenotype Ontology C0742028 HP:0006855 16 Feb 2016 Finding Cerebellar vermis hypoplasia Human Phenotype Ontology C1840379 HP:0001320 16 Feb 2016 Finding Cerebellar vermis medulloblastoma MONDO C1332903 MONDO:0002792 17 Apr 2020 Disease Cerebellar white matter 20 Jun 2019 Finding CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME OMIM C5193118 618479 618479 20 Jun 2019 Disease cerebellar-facial-dental syndrome CN221667 16 Feb 2016 Disease Cerebello-oculo-renal syndrome (nephronophthisis, oculomotor apraxia and cerebellar abnormalities) CN228268 16 Feb 2016 Finding Cerebello-olivary atrophy MONDO MONDO:0022691 17 Apr 2020 Disease Cerebellofaciodental syndrome NCBI curation C4015495 616202 16 Feb 2016 Disease Cerebelloolivary atrophy 16 Feb 2016 Disease Cerebelloparenchymal disorder MONDO MONDO:0000114 17 Apr 2020 Disease Cerebelloparenchymal disorder 3 16 Feb 2016 Disease Cerebelloparenchymal disorder II NCBI curation C1859299 213100 26 May 2016 Disease Cerebelloparenchymal disorder v NCBI curation C3489626 213400 16 Feb 2016 Disease Cerebelloparenchymal disorder vi NCBI curation 16 Feb 2016 Disease Cerebellopontine angle arachnoid cyst Human Phenotype Ontology C4022884 HP:0012487 16 Feb 2016 Finding Cerebellopontine angle embryonal tumor MONDO C1332904 MONDO:0003141 17 Apr 2020 Disease Cerebellopontine angle meningioma MONDO C1263882 MONDO:0003860 17 Apr 2020 Disease Cerebellum agenesis hydrocephaly 16 Feb 2016 Disease Cerebral amyloid angiopathy Human Phenotype Ontology C0085220 HP:0011970 16 Feb 2016 Disease Cerebral amyloid angiopathy, APP-related NCBI curation C2751536 605714 16 Feb 2016 Disease CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT 16 Feb 2016 Disease CEREBRAL AMYLOID ANGIOPATHY, GSN-RELATED 16 Feb 2016 Disease CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED C3805618 16 Feb 2016 Disease cerebral and cerebellar atrophy 19 Oct 2016 Finding Cerebral aneurysm 16 Feb 2016 Disease Cerebral angiopathy, dysphoric NCBI curation C1859283 213500 16 Feb 2016 Disease Cerebral arterial disease MONDO C0007774 MONDO:0006693 17 Apr 2020 Disease Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy OMIM phenotypic series CN263142 PS125310 14 Jan 2020 Disease Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 CN258998 12 Jun 2019 Disease Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 NCBI curation C4225211 616779 16 Feb 2016 Disease Cerebral arteriovenous malformation Human Phenotype Ontology C0917804 HP:0002408 108010 16 Feb 2016 Disease Cerebral arteritis MONDO C0007773 MONDO:0001277 17 Apr 2020 Disease Cerebral artery atherosclerosis Human Phenotype Ontology C4024924 HP:0007201 16 Feb 2016 Finding Cerebral artery calcification Human Phenotype Ontology C1410868 HP:0031309 04 Apr 2018 Finding Cerebral artery occlusion MONDO MONDO:0000944 17 Apr 2020 Disease Cerebral artery stenosis Human Phenotype Ontology C1504438 HP:0012492 16 Feb 2016 Finding Cerebral astrocytoma MONDO C0750935 MONDO:0021633 17 Apr 2020 Disease Cerebral atherosclerosis MONDO C0007775 MONDO:0006694 17 Apr 2020 Disease Cerebral atrophy Human Phenotype Ontology C0235946 HP:0002059 16 Feb 2016 Finding Cerebral atrophy involving cortex and white matter, severe 23 Jan 2020 Finding Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy NCBI curation C0751587 14 Jan 2020 Disease Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 NCBI curation C4551768 125310 14 Jan 2020 Disease Cerebral berry aneurysm Human Phenotype Ontology C2713497 HP:0007029 16 Feb 2016 Finding Cerebral calcification Human Phenotype Ontology C0270685 HP:0002514 16 Feb 2016 Finding Cerebral calcification cerebellar hypoplasia 16 Feb 2016 Disease Cerebral calcifications CN234901 16 Feb 2016 Finding Cerebral calcifications opalescent teeth phosphaturia 16 Feb 2016 Disease Cerebral cavernous angioma 12 Jun 2020 Disease Cerebral cavernous malformation C2919945 116860 16 Feb 2016 Disease Cerebral cavernous malformations 1 NCBI curation C1366911 16 Feb 2016 Disease Cerebral cavernous malformations 2 NCBI curation C1864041 603284 16 Feb 2016 Disease Cerebral cavernous malformations 3 NCBI curation C1864040 603285 16 Feb 2016 Disease Cerebral cavernous malformations 4 NCBI curation CN119550 16 Feb 2016 Disease Cerebral convexity meningioma MONDO C0751303 MONDO:0003774 17 Apr 2020 Disease Cerebral cortex disease MONDO C1263847 MONDO:0044996 17 Apr 2020 Disease Cerebral cortex with spongiform changes Human Phenotype Ontology C1857934 HP:0006790 16 Feb 2016 Finding Cerebral cortical atrophy Human Phenotype Ontology C4551583 HP:0002120 16 Feb 2016 Finding Cerebral cortical hemiatrophy Human Phenotype Ontology C4022153 HP:0100308 16 Feb 2016 Finding Cerebral cortical neurodegeneration Human Phenotype Ontology C1859863 HP:0006964 16 Feb 2016 Finding Cerebral creatine deficiency syndrome OMIM phenotypic series CN227588 PS300352 16 Feb 2016 Disease Cerebral degeneration Human Phenotype Ontology C0154671 HP:0007313 16 Feb 2016 Finding Cerebral disease with cataract MONDO MONDO:0020229 17 Apr 2020 Disease Cerebral diseases of vascular origin with epilepsy MONDO CN200067 MONDO:0015658 17 Apr 2020 Disease cerebral dysfunction 05 Sep 2019 Disease Cerebral dysmyelination Human Phenotype Ontology C1854885 HP:0007266 16 Feb 2016 Finding Cerebral edema Human Phenotype Ontology C0006114 HP:0002181 16 Feb 2016 Finding Cerebral falx meningioma MONDO C1333597 MONDO:0004422 17 Apr 2020 Disease Cerebral folate deficiency C2751584 613068 16 Feb 2016 Disease Cerebral germinoma Human Phenotype Ontology C4022151 HP:0100312 16 Feb 2016 Finding Cerebral gigantism jaw cysts 16 Feb 2016 Disease Cerebral gigantism-jaw cysts syndrome MONDO CN200907 MONDO:0016161 17 Apr 2020 Disease Cerebral granulomatosis Human Phenotype Ontology C4022150 HP:0100313 16 Feb 2016 Finding Cerebral hamartomata Human Phenotype Ontology C4024218 HP:0009731 16 Feb 2016 Finding Cerebral hemangioma MONDO C0877388 MONDO:0003948 17 Apr 2020 Disease Cerebral hemisphere cancer MONDO MONDO:0002731 17 Apr 2020 Disease Cerebral hemisphere lipoma MONDO C1332907 MONDO:0003843 17 Apr 2020 Disease Cerebral hemorrhage Human Phenotype Ontology C2937358 HP:0001342 16 Feb 2016 Finding Cerebral hyaline bodies Human Phenotype Ontology C4021021 HP:0100319 16 Feb 2016 Finding Cerebral hypomyelination Human Phenotype Ontology C2677328 HP:0006808 16 Feb 2016 Finding Cerebral hypoplasia Human Phenotype Ontology C1855330 HP:0006872 16 Feb 2016 Finding Cerebral inclusion bodies Human Phenotype Ontology C4022149 HP:0100314 16 Feb 2016 Finding cerebral infarction C0007785 18 Jan 2019 Finding Cerebral infarction, susceptibility to NCBI curation C4016929 16 Feb 2016 Disease Cerebral ischemia Human Phenotype Ontology C0917798 HP:0002637 16 Feb 2016 Finding Cerebral lymphoma MONDO C0240803 MONDO:0003655 17 Apr 2020 Disease Cerebral malaria MONDO C0024534 MONDO:0005625 04 Jun 2020 Infectious disease Cerebral malformation due to abnormal neuronal migration MONDO CN226704 MONDO:0015572 17 Apr 2020 Disease Cerebral malformation with epilepsy MONDO CN226720 MONDO:0015655 17 Apr 2020 Disease Cerebral malformation, seizures, hypertrichosis, and overlapping fingers MONDO C1859259 MONDO:0008949 213820 17 Apr 2020 Disease Cerebral meningioma MONDO C0542564 MONDO:0003772 17 Apr 2020 Disease Cerebral neuroblastoma MONDO C0559458 MONDO:0002900 17 Apr 2020 Disease Cerebral organic aciduria MONDO CN229178 MONDO:0019213 17 Apr 2020 Disease Cerebral palsy Human Phenotype Ontology C0007789 HP:0100021 16 Feb 2016 Finding Cerebral palsy spastic diplegic 16 Feb 2016 Disease Cerebral palsy spastic hemiplegic 16 Feb 2016 Disease Cerebral palsy spastic monoplegic 16 Feb 2016 Disease Cerebral palsy spastic quadriplegic NCBI curation C0837178 16 Feb 2016 Disease Cerebral palsy, ataxic, autosomal recessive NCBI curation CN263369 605388 17 Mar 2020 Disease Cerebral palsy, spastic quadriplegic, 1 NCBI curation C2751938 603513 16 Feb 2016 Disease Cerebral palsy, spastic quadriplegic, 2 NCBI curation C2752061 612900 16 Feb 2016 Disease Cerebral palsy, spastic quadriplegic, 3 NCBI curation C4310767 617008 03 Jul 2016 Disease Cerebral primitive neuroectodermal tumor MONDO C0751675 MONDO:0004209 17 Apr 2020 Disease Cerebral sarcoidosis MONDO C0398676 MONDO:0001706 17 Apr 2020 Disease Cerebral sarcoma C1861714 117600 16 Feb 2016 Disease Cerebral sclerosis similar to Pelizaeus-Merzbacher disease C1859258 213900 16 Feb 2016 Disease Cerebral sclerosis, diffuse, scholz type NCBI curation C1844884 302700 16 Feb 2016 Disease Cerebral sinovenous thrombosis MONDO CN204195 MONDO:0017993 17 Apr 2020 Disease Cerebral toxoplasmosis MONDO MONDO:0005697 17 Apr 2020 Disease Cerebral vasculitis Human Phenotype Ontology C0238051 HP:0005318 16 Feb 2016 Finding Cerebral venous angioma Human Phenotype Ontology C1956261 HP:0012481 16 Feb 2016 Finding cerebral venous sinus thrombosis C0338573 18 Jan 2019 Finding Cerebral venous thrombosis Human Phenotype Ontology C0151945 HP:0005305 16 Feb 2016 Finding Cerebral ventricle cancer 16 Feb 2016 Disease Cerebral ventricular adhesions Human Phenotype Ontology C4022152 HP:0100311 16 Feb 2016 Finding cerebral ventriculomegaly 05 Sep 2019 Finding Cerebral vision impairment 23 Jan 2020 Finding Cerebral visual impairment and intellectual disability CN235864 31 Mar 2016 Disease Cerebral white matter atrophy Human Phenotype Ontology C4022735 HP:0012762 16 Feb 2016 Finding Cerebral white matter hypoplasia Human Phenotype Ontology C4022908 HP:0012430 16 Feb 2016 Finding Cerebral-cerebellar-coloboma syndrome, X-linked NCBI curation C3275487 300864 16 Feb 2016 Disease Cerebritis MONDO C0742115 MONDO:0002645 17 Apr 2020 Disease Cerebro facio thoracic dysplasia 16 Feb 2016 Disease Cerebro facio thoracic dysplasia C4303947 04 Jun 2020 Disease Cerebro oculo dento auriculo skeletal syndrome 16 Feb 2016 Disease Cerebro oculo genital syndrome 16 Feb 2016 Disease Cerebro oculo skeleto renal syndrome 16 Feb 2016 Disease Cerebro reno digital syndrome 16 Feb 2016 Disease Cerebro-costo-mandibular syndrome C0265342 117650 16 Feb 2016 Disease Cerebrocortical degeneration of infancy NCBI curation C1859257 213950 16 Feb 2016 Disease Cerebrocostomandibular-like syndrome 16 Feb 2016 Disease Cerebrofacial arteriovenous metameric syndrome MONDO C3839265 MONDO:0015405 17 Apr 2020 Disease Cerebrofacial arteriovenous metameric syndrome type 1 MONDO C3840102 MONDO:0015406 17 Apr 2020 Disease Cerebrofacial arteriovenous metameric syndrome type 3 MONDO C3838691 MONDO:0015407 17 Apr 2020 Disease Cerebrofrontofacial syndrome type 1 CN257771 02 Nov 2018 Disease Cerebrofrontofacial syndrome type 3 CN257772 02 Nov 2018 Disease Cerebrooculofacioskeletal syndrome 1 NCBI curation C0220722 214150 05 Dec 2019 Disease Cerebrooculofacioskeletal syndrome 2 NCBI curation C1853102 610756 16 Feb 2016 Disease Cerebrooculofacioskeletal syndrome 3 NCBI curation C1851443 616570 14 Sep 2017 Disease Cerebrooculofacioskeletal syndrome 4 NCBI curation C1853100 610758 16 Feb 2016 Disease Cerebrooculonasal syndrome NCBI curation C1854108 605627 16 Feb 2016 Disease Cerebrorenodigital syndrome with limb malformations and triradiate acetabula NCBI curation C1836287 609345 16 Feb 2016 Disease Cerebroretinal microangiopathy with calcifications and cysts NCBI curation C2677299 01 Jul 2017 Disease Cerebroretinal microangiopathy with calcifications and cysts 1 NCBI curation C4552029 612199 01 Jul 2017 Disease Cerebroretinal microangiopathy with calcifications and cysts 2 NCBI curation C4479220 617341 20 Jun 2017 Disease Cerebrospinal fluid leak 16 Feb 2016 Disease Cerebrospinal fluid rhinorrhoea Human Phenotype Ontology C0007815 HP:0030998 04 Apr 2018 Finding Cerebrovascular dementia MONDO CN229278 MONDO:0020144 17 Apr 2020 Disease Cerebrovascular disorder MONDO C0007820 MONDO:0011057 17 Apr 2020 Disease cerivastatin response - Toxicity/ADR PharmGKB CN236499 981344897 18 May 2016 Pharmacological response Ceroid lipofuscinosis neuronal 2 NCBI curation C1876161 204500 20 May 2016 Disease Ceroid lipofuscinosis, neuronal, 11 NCBI curation C3539123 614706 16 Feb 2016 Disease Ceroid lipofuscinosis, neuronal, 12 NCBI curation CN180193 16 Feb 2016 Disease Ceroid lipofuscinosis, neuronal, 13 NCBI curation C3715049 615362 16 Feb 2016 Disease Ceroid lipofuscinosis, neuronal, 3, protracted NCBI curation C4017059 16 Feb 2016 Disease Ceroid lipofuscinosis, neuronal, 4, Parry type CN260132 18 Jun 2019 Disease Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant NCBI curation C1864923 610003 16 Feb 2016 Disease Ceroid lipofuscinosis, neuronal, Kufs type, adult onset CN260133 18 Jun 2019 Disease Ceruloplasmin belfast NCBI curation 16 Feb 2016 Disease Cerumen abnormality Human Phenotype Ontology C4280769 HP:0030787 02 Apr 2017 Finding Ceruminous carcinoma MONDO C0334353 MONDO:0003880 17 Apr 2020 Disease Cervical adenofibroma MONDO C1516402 MONDO:0003459 17 Apr 2020 Disease Cervical adenomyoma MONDO C1516404 MONDO:0003238 17 Apr 2020 Disease Cervical adenosarcoma MONDO C1516426 MONDO:0002876 17 Apr 2020 Disease Cervical adenosquamous carcinoma MONDO C0346202 MONDO:0006134 17 Apr 2020 Disease Cervical agenesis Human Phenotype Ontology C0266404 HP:0030008 16 Feb 2016 Finding Cervical alveolar soft part sarcoma MONDO C1516408 MONDO:0003003 17 Apr 2020 Disease Cervical and thoracic vertebral fusion 06 Nov 2018 Finding Cervical aortic arch Human Phenotype Ontology C0345065 HP:0011588 16 Feb 2016 Finding Cervical artery dissection MONDO MONDO:0006061 17 Apr 2020 Disease Cervical atypical polypoid adenomyoma MONDO C1516409 MONDO:0004488 17 Apr 2020 Disease Cervical basaloid carcinoma MONDO C1511063 MONDO:0004088 17 Apr 2020 Disease Cervical benign neoplasm MONDO C0153997 MONDO:0000644 17 Apr 2020 Disease Cervical C2/C3 vertebral fusion Human Phenotype Ontology CN004080 HP:0004602 02 Apr 2017 Finding Cervical C3/C4 vertebral fusion Human Phenotype Ontology C4022538 HP:0030281 02 Apr 2017 Finding Cervical C5/C6 vertebrae fusion Human Phenotype Ontology C4025301 HP:0004635 02 Apr 2017 Finding Cervical carcinosarcoma MONDO C1332917 MONDO:0002877 17 Apr 2020 Disease Cervical clear cell adenocarcinoma Human Phenotype Ontology C1332912 HP:0031522 04 Apr 2018 Finding Cervical cord compression Human Phenotype Ontology C0852866 HP:0002341 16 Feb 2016 Finding Cervical dermoid cyst MONDO C4706299 MONDO:0015379 17 Apr 2020 Disease Cervical disc degenerative disorder MONDO C0410606 MONDO:0044343 17 Apr 2020 Disease Cervical ectopia cordis Human Phenotype Ontology C4023286 HP:0011583 16 Feb 2016 Finding Cervical ectropion Human Phenotype Ontology C0269189 HP:0030158 16 Feb 2016 Finding Cervical endometrioid adenocarcinoma MONDO C1332913 MONDO:0003665 17 Apr 2020 Disease Cervical endometriosis Human Phenotype Ontology C0269107 HP:0012889 16 Feb 2016 Finding Cervical fibroepithelial polyp MONDO C1516413 MONDO:0060777 17 Apr 2020 Disease Cervical hemivertebrae Human Phenotype Ontology C0432155 HP:0025481 04 Apr 2018 Finding Cervical hypertrichosis peripheral neuropathy 16 Feb 2016 Disease Cervical hypertrichosis with underlying kyphoscoliosis NCBI curation C1861695 117850 16 Feb 2016 Disease Cervical hypertrichosis-peripheral neuropathy syndrome MONDO C1855902 MONDO:0009405 239840 17 Apr 2020 Disease Cervical incompetence MONDO MONDO:0005698 17 Apr 2020 Disease Cervical instability Human Phenotype Ontology C1863314 HP:0008462 16 Feb 2016 Finding Cervical insufficiency Human Phenotype Ontology C0007871 HP:0030009 16 Feb 2016 Finding Cervical intraepithelial neoplasia C0206708 16 Feb 2016 Disease Cervical intraepithelial neoplasia grade 2/3 MONDO C2986622 MONDO:0006137 17 Apr 2020 Disease Cervical keratinizing squamous cell carcinoma MONDO C1517658 MONDO:0004239 17 Apr 2020 Disease Cervical kyphosis Human Phenotype Ontology C0575170 HP:0002947 16 Feb 2016 Finding Cervical large cell neuroendocrine carcinoma MONDO C1516417 MONDO:0006138 17 Apr 2020 Disease cervical lymphadenitis C0149642 18 Jan 2019 Finding Cervical lymphadenopathy Human Phenotype Ontology C0235592 HP:0025289 02 Apr 2017 Finding Cervical lymphoepithelioma-like carcinoma MONDO C1516418 MONDO:0004296 17 Apr 2020 Disease Cervical metaplasia MONDO C0281796 MONDO:0006139 17 Apr 2020 Disease Cervical mucinous adenocarcinoma MONDO C1332919 MONDO:0002742 17 Apr 2020 Disease Cervical mucinous adenocarcinoma, minimal deviation variant MONDO C1516423 MONDO:0006140 17 Apr 2020 Disease Cervical mullerian papilloma MONDO C1516427 MONDO:0004787 17 Apr 2020 Disease Cervical myelopathy Human Phenotype Ontology C0149645 HP:0002318 16 Feb 2016 Finding Cervical neuroblastoma MONDO MONDO:0000549 17 Apr 2020 Disease Cervical non-keratinizing squamous cell carcinoma MONDO C1518366 MONDO:0004413 17 Apr 2020 Disease Cervical osteoarthritis Human Phenotype Ontology C0263854 HP:0025266 02 Apr 2017 Finding Cervical platyspondyly Human Phenotype Ontology C1856641 HP:0004558 16 Feb 2016 Finding Cervical polyp Human Phenotype Ontology C0007855 HP:0030159 16 Feb 2016 Finding Cervical polyp (disease) MONDO MONDO:0000751 17 Apr 2020 Disease Cervical rib NCBI curation C0158779 117900 16 Feb 2016 Disease Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction MONDO C1832391 MONDO:0011069 601389 22 Apr 2020 Disease Cervical segmentation defect Human Phenotype Ontology C1862415 HP:0004632 16 Feb 2016 Finding Cervical serous adenocarcinoma MONDO C1516431 MONDO:0003631 17 Apr 2020 Disease Cervical small cell carcinoma MONDO C0279674 MONDO:0006142 17 Apr 2020 Disease Cervical spina bifida Human Phenotype Ontology C0266501 HP:0005857 16 Feb 2016 Finding Cervical spina bifida aperta MONDO C1960883 MONDO:0017066 17 Apr 2020 Disease Cervical spina bifida cystica MONDO CN202433 MONDO:0017073 17 Apr 2020 Disease Cervical spinal canal and spinal cord meningioma MONDO C1332916 MONDO:0004396 17 Apr 2020 Disease Cervical spinal canal stenosis Human Phenotype Ontology C1844925 HP:0008445 16 Feb 2016 Finding Cervical spinal cord atrophy Human Phenotype Ontology C0742191 HP:0010873 16 Feb 2016 Finding Cervical spine hypermobility Human Phenotype Ontology C0574967 HP:0003318 16 Feb 2016 Finding Cervical spine instability Human Phenotype Ontology C0410652 HP:0010646 16 Feb 2016 Finding Cervical spondylosis Human Phenotype Ontology C1384641 HP:0008480 184300 16 Feb 2016 Disease Cervical squamous cell carcinoma MONDO C0279671 MONDO:0006143 17 Apr 2020 Disease Cervical squamous intraepithelial neoplasia MONDO C1332922 MONDO:0042491 17 Apr 2020 Disease Cervical subluxation Human Phenotype Ontology C1846798 HP:0003308 16 Feb 2016 Finding Cervical sympathetic paralysis 16 Feb 2016 Disease Cervical verrucous carcinoma MONDO C1516435 MONDO:0002761 17 Apr 2020 Disease Cervical vertebral bodies with decreased anteroposterior diameter Human Phenotype Ontology C1847393 HP:0008483 16 Feb 2016 Finding Cervical vertebral bridge NCBI curation C1861694 118000 16 Feb 2016 Disease Cervical vertebral dysplasia Human Phenotype Ontology C1861693 HP:0008469 118005 16 Feb 2016 Disease Cervical vertebral facet hypoplasia Human Phenotype Ontology C4024673 HP:0008461 16 Feb 2016 Finding Cervical vertebral fusion 06 Nov 2018 Finding Cervical villoglandular adenocarcinoma MONDO C4289808 MONDO:0006141 17 Apr 2020 Disease Cervical Wilms tumor MONDO C1516437 MONDO:0006144 17 Apr 2020 Disease Cervicitis Human Phenotype Ontology C0007860 HP:0030160 16 Feb 2016 Finding Cervicitis (disease) MONDO MONDO:0002345 17 Apr 2020 Disease Cervicofacial actinomycosis MONDO C0001264 MONDO:0005699 04 Jun 2020 Infectious disease Cervicofacial fibrochondroma MONDO C5231314 MONDO:0015383 17 Apr 2020 Disease Cervicomedullary junction neoplasm MONDO C1332923 MONDO:0003108 17 Apr 2020 Disease Cervicomedullary schisis Human Phenotype Ontology C4022510 HP:0030325 16 Feb 2016 Finding Cervicothoracic spina bifida aperta MONDO CN202426 MONDO:0017067 17 Apr 2020 Disease Cervicothoracic spina bifida cystica MONDO CN202434 MONDO:0017074 17 Apr 2020 Disease Cervix cancer Human Phenotype Ontology C0007847 HP:0030079 16 Feb 2016 Finding Cervix disease MONDO C0007867 MONDO:0002256 17 Apr 2020 Disease Cervix melanoma MONDO C0877611 MONDO:0002988 17 Apr 2020 Disease Cervix squamous papilloma MONDO C1336900 MONDO:0004788 17 Apr 2020 Disease Cessation of head growth Human Phenotype Ontology C4025319 HP:0004485 16 Feb 2016 Finding Cestode infectious disease MONDO CN281892 MONDO:0042488 04 Jun 2020 Infectious disease Cetuximab response CN077967 16 Feb 2016 Pharmacological response cetuximab response - Dosage PharmGKB CN240595 1447961082 17 Feb 2017 Pharmacological response cetuximab response - Efficacy PharmGKB CN236500 981202440 18 May 2016 Pharmacological response Cevimeline response CN077968 16 Feb 2016 Pharmacological response CFH-Related Disorders CN239324 02 Dec 2016 Disease CFHR5 deficiency NCBI curation C3553720 614809 16 Feb 2016 Disease CFHR5-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II NCBI curation CN120381 16 Feb 2016 Disease CFI-Related Disorders CN239325 02 Dec 2016 Disease CFTR-related disorders NCBI curation 23 Jul 2019 Disease Chaddock reflex Human Phenotype Ontology C1531651 HP:0010875 16 Feb 2016 Finding Chagas cardiomyopathy MONDO MONDO:0005491 17 Apr 2020 Disease Chalazion Human Phenotype Ontology C0007933 HP:0010605 16 Feb 2016 Finding Chancre MONDO C0600049 MONDO:0007025 04 Jun 2020 Infectious disease Chancroid C0007947 16 Feb 2016 Infectious disease Chandler's syndrome 16 Feb 2016 Disease Chang Davidson Carlson syndrome 16 Feb 2016 Disease Changes in white matter of brain CN233054 16 Feb 2016 Finding Channelopathy MONDO C1720983 MONDO:0021016 17 Apr 2020 Disease Channelopathy with epilepsy MONDO CN261706 MONDO:0015922 17 Apr 2020 Disease Chaotic atrial tachycardia 16 Feb 2016 Disease Chaotic multifocal atrial tachycardia Human Phenotype Ontology C4023218 HP:0011725 16 Feb 2016 Finding Chaotic rapid conjugate ocular movements Human Phenotype Ontology C4024909 HP:0007295 16 Feb 2016 Finding Chapare hemorrhagic fever MONDO C4274434 MONDO:0017878 04 Jun 2020 Infectious disease Chapped lip Human Phenotype Ontology C0424489 HP:0040181 16 Feb 2016 Finding Char syndrome NCBI curation C1868570 169100 17 Jul 2016 Disease Characteristic facies, hypoplastic terminal phalanges, osteopenia, albinoid fundus, markedly impaired retinal function, recurrent infections, PDA, persistent anemia (Hb 8.3 g/dl) with anisopoikilocytosis. MRI showed increase white matter signal and hypogenesis of corpus callosum NCBI curation 16 Feb 2016 Finding Characteristic facies, hypoplastic terminal phalanges, osteopenia, blind, profound global developmental delay, hypopigmented skin patches and talipes. Bifrontal subdural hygroma on brain MRI CN186933 16 Feb 2016 Finding Characteristic Seckel facies, severe kyphoscoliosis leading to spinal cord compression and paraplegia, global developmental delay and intellectual disability CN186926 16 Feb 2016 Finding Charcot-Marie-Tooth disease OMIM phenotypic series C0007959 PS118220 16 Feb 2016 Disease Charcot-Marie-Tooth disease and deafness NCBI curation C3495591 118300 24 Aug 2016 Disease Charcot-Marie-Tooth disease axonal type 2C MONDO C1853710 MONDO:0011633 606071 22 Apr 2020 Disease Charcot-Marie-Tooth disease axonal type 2F MONDO C1847823 MONDO:0011687 606595 22 Apr 2020 Disease Charcot-Marie-Tooth disease axonal type 2H MONDO C1843173 MONDO:0011901 607731 22 Apr 2020 Disease Charcot-Marie-Tooth disease deafness recessive type CN035937 16 Feb 2016 Disease Charcot-Marie-Tooth disease dominant intermediate a MONDO C1847896 MONDO:0011675 606483 22 Apr 2020 Disease Charcot-Marie-Tooth disease dominant intermediate d MONDO C1843075 MONDO:0011909 607791 22 Apr 2020 Disease Charcot-Marie-Tooth disease neuronal type A CN036818 16 Feb 2016 Disease Charcot-Marie-Tooth disease neuronal type B CN035815 16 Feb 2016 Disease Charcot-Marie-Tooth disease neuronal type D CN036322 16 Feb 2016 Disease Charcot-Marie-Tooth disease type 2B MONDO C1833219 MONDO:0010949 600882 22 Apr 2020 Disease Charcot-Marie-Tooth disease type 2B1 C1854154 605588 16 Feb 2016 Disease Charcot-Marie-Tooth disease type 2B2 NCBI curation C1854150 605589 09 May 2020 Disease Charcot-Marie-Tooth disease type 2D C1832274 601472 16 Feb 2016 Disease Charcot-Marie-Tooth disease type 2E C1843225 607684 16 Feb 2016 Disease Charcot-Marie-Tooth disease type 2I C3888087 607677 16 Feb 2016 Disease Charcot-Marie-Tooth disease type 2J C1843153 607736 16 Feb 2016 Disease Charcot-Marie-Tooth disease type 2K C1842983 607831 16 Feb 2016 Disease Charcot-Marie-Tooth disease type 2P NCBI curation C3280797 614436 16 Feb 2016 Disease Charcot-Marie-Tooth disease type 4 NCBI curation C4082197 30 Jan 2019 Disease Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma C1858279 16 Feb 2016 Disease Charcot-Marie-Tooth disease type 5 MONDO C4721916 MONDO:0010877 600361 17 Apr 2020 Disease Charcot-Marie-Tooth disease type X MONDO C4551551 MONDO:0018994 17 Apr 2020 Disease Charcot-Marie-Tooth disease with ptosis and parkinsonism C1861668 118301 16 Feb 2016 Disease Charcot-Marie-Tooth disease, axonal type CN230012 16 Feb 2016 Finding Charcot-Marie-Tooth disease, axonal type 2V NCBI curation C4225306 616491 16 Feb 2016 Disease Charcot-Marie-Tooth disease, axonal type 2X NCBI curation C4225253 616668 16 Feb 2016 Disease CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K, MODIFIER OF 16 Feb 2016 Disease Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B NCBI curation C4310725 617087 30 Jul 2017 Disease Charcot-Marie-Tooth disease, axonal, type 20 CN260124 20 Jun 2019 Disease Charcot-Marie-Tooth disease, axonal, type 2A2B CN260125 20 Jun 2019 Disease Charcot-Marie-Tooth disease, axonal, type 2CC NCBI curation C4310790 616924 27 Jun 2016 Disease CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD OMIM C4747974 618036 618036 30 Jun 2018 Disease CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE OMIM C5193076 618400 618400 27 Apr 2019 Disease Charcot-Marie-Tooth disease, axonal, type 2O NCBI curation C3280220 614228 16 Feb 2016 Disease Charcot-Marie-Tooth disease, axonal, type 2Q NCBI curation C3554366 615025 16 Feb 2016 Disease Charcot-Marie-Tooth disease, axonal, type 2R NCBI curation C3809655 615490 16 Feb 2016 Disease Charcot-Marie-Tooth disease, axonal, type 2S NCBI curation C4015349 616155 16 Feb 2016 Disease Charcot-Marie-Tooth disease, axonal, type 2T NCBI curation C4015635 617017 16 Feb 2016 Disease Charcot-Marie-Tooth disease, axonal, type 2u NCBI curation C4084821 616280 16 Feb 2016 Disease Charcot-Marie-Tooth disease, axonal, type 2w NCBI curation C4225265 616625 16 Feb 2016 Disease Charcot-Marie-Tooth disease, axonal, type 2y NCBI curation C4225244 616687 16 Feb 2016 Disease Charcot-Marie-Tooth disease, axonal, type 2z NCBI curation C4225243 616688 16 Feb 2016 Disease Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive NCBI curation C1843183 607706 16 Feb 2016 Disease Charcot-Marie-Tooth disease, demyelinating type CN230013 16 Feb 2016 Finding Charcot-Marie-Tooth disease, demyelinating, type 1b NCBI curation C0270912 118200 24 Aug 2016 Disease Charcot-Marie-Tooth disease, demyelinating, type 1d NCBI curation C1843247 607678 24 Aug 2016 Disease Charcot-Marie-Tooth disease, demyelinating, type 1f NCBI curation C1843164 607734 24 Aug 2016 Disease Charcot-Marie-Tooth disease, demyelinating, type 4F NCBI curation C3540453 614895 28 Jul 2019 Disease Charcot-Marie-Tooth disease, dominant intermediate B NCBI curation C1847902 606482 21 Sep 2018 Disease Charcot-Marie-Tooth disease, dominant intermediate b, with neutropenia NCBI curation CN043286 16 Feb 2016 Disease Charcot-Marie-Tooth disease, dominant intermediate C NCBI curation C1842237 608323 16 Feb 2016 Disease Charcot-Marie-Tooth disease, dominant intermediate E NCBI curation C3280845 614455 16 Feb 2016 Disease Charcot-Marie-Tooth disease, dominant intermediate F NCBI curation C3554654 615185 16 Feb 2016 Disease CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G OMIM C4693509 617882 617882 08 Mar 2018 Disease Charcot-Marie-Tooth disease, foot deformity of NCBI curation C1840503 16 Feb 2016 Disease Charcot-Marie-Tooth disease, Guadalajara neuronal type NCBI curation C1861673 118230 16 Feb 2016 Disease Charcot-Marie-Tooth disease, intermediate type CN233223 16 Feb 2016 Finding Charcot-Marie-Tooth disease, recessive intermediate A NCBI curation C1842197 608340 16 Feb 2016 Disease Charcot-Marie-Tooth disease, recessive intermediate B NCBI curation C3150897 613641 16 Feb 2016 Disease Charcot-Marie-Tooth disease, recessive intermediate c NCBI curation C3809309 615376 16 Feb 2016 Disease Charcot-Marie-Tooth disease, recessive intermediate d NCBI curation C4015029 616039 16 Feb 2016 Disease Charcot-Marie-Tooth disease, type 1a, autosomal recessive NCBI curation C4016716 16 Feb 2016 Disease Charcot-Marie-Tooth disease, type 1a, with focally folded myelin sheaths NCBI curation C4016717 16 Feb 2016 Disease Charcot-Marie-Tooth disease, type 1b, with focally folded myelin sheaths NCBI curation C4016266 16 Feb 2016 Disease Charcot-Marie-Tooth disease, type 1C NCBI curation C0270913 601098 16 Feb 2016 Disease Charcot-Marie-Tooth disease, type 2 NCBI curation C0270914 16 Feb 2016 Disease Charcot-Marie-Tooth disease, type 2A NCBI curation C2079538 16 Feb 2016 Disease Charcot-Marie-Tooth disease, type 2A1 NCBI curation C1861678 118210 16 Feb 2016 Disease Charcot-Marie-Tooth disease, type 2A2A NCBI curation C4721887 609260 30 Jul 2017 Disease Charcot-Marie-Tooth disease, type 2L NCBI curation C1837552 608673 16 Feb 2016 Disease Charcot-Marie-Tooth disease, type 2M NCBI curation CN043284 16 Feb 2016 Disease Charcot-Marie-Tooth disease, type 2N NCBI curation C2750090 613287 16 Feb 2016 Disease Charcot-Marie-Tooth disease, type 2R C4751566 20 Jun 2019 Disease Charcot-Marie-Tooth disease, type 4A NCBI curation C1859198 214400 16 Feb 2016 Disease Charcot-Marie-Tooth disease, type 4B1 NCBI curation C1832399 601382 16 Feb 2016 Disease Charcot-Marie-Tooth disease, type 4B2 NCBI curation C1858278 604563 16 Feb 2016 Disease Charcot-Marie-Tooth disease, type 4B3 NCBI curation C3695063 615284 16 Feb 2016 Disease Charcot-Marie-Tooth disease, type 4C NCBI curation C1866636 601596 16 Feb 2016 Disease Charcot-Marie-Tooth disease, type 4D NCBI curation C1832334 601455 16 Feb 2016 Disease Charcot-Marie-Tooth disease, type 4H NCBI curation C1836336 609311 16 Feb 2016 Disease Charcot-Marie-Tooth disease, type 4J NCBI curation C1970011 611228 16 Feb 2016 Disease Charcot-Marie-Tooth disease, type 4k NCBI curation C4225246 616684 16 Feb 2016 Disease Charcot-Marie-Tooth disease, type I NCBI curation C0751036 16 Feb 2016 Disease Charcot-Marie-Tooth disease, type IA NCBI curation C0270911 118220 16 Feb 2016 Disease Charcot-Marie-Tooth disease, X-linked dominant, 6 NCBI curation C3806702 300905 16 Feb 2016 Disease Charcot-Marie-Tooth disease, X-linked recessive, type 2 NCBI curation C1844873 302801 16 Feb 2016 Disease Charcot-Marie-Tooth disease, X-linked recessive, type 3 NCBI curation C1844865 302802 16 Feb 2016 Disease Charcot-Marie-Tooth disease, X-linked recessive, type 5 NCBI curation C1839566 311070 16 Feb 2016 Disease Charcot-Marie-Tooth Neuropathy Type 2H/2K CN118848 16 Feb 2016 Disease Charcot-Marie-Tooth Neuropathy Type 2I/2J CN230157 16 Feb 2016 Disease Charcot-Marie-Tooth Neuropathy X CN118851 16 Feb 2016 Disease Charcot-Marie-Tooth Neuropathy X Type 5 CN169294 16 Feb 2016 Disease Charcot-Marie-Tooth neuropathy, dominant intermediate b, with neutropenia NCBI curation 16 Feb 2016 Disease Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 CN260127 20 Jun 2019 Disease Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined NCBI curation C1844863 302900 16 Feb 2016 Disease Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita MONDO C1844864 MONDO:0010552 302803 17 Apr 2020 Disease Charcot-Marie-Tooth with Vocal Cord Paresis CN239254 02 Dec 2016 Disease Charcot-Marie-Tooth, Intermediate CN239334 02 Dec 2016 Disease Charcot-Marie-Tooth, X-linked CN239255 02 Dec 2016 Disease CHARGE association NCBI curation C0265354 214800 16 Feb 2016 Disease Charles Bonnet syndrome C0339731 16 Feb 2016 Disease Charlevoix-Saguenay spastic ataxia MONDO C1849140 MONDO:0010041 270550 22 Apr 2020 Disease Charlie M syndrome C4518555 16 Feb 2016 Disease CHD CN238725 19 Oct 2016 Finding CHD (VSD) CN238699 19 Oct 2016 Finding CHD2-Related Disorder 29 Aug 2019 Disease CHD3-Related Disorder 29 Aug 2019 Disease CHD8-Related Disorders 11 Oct 2018 Disease Chediak-Higashi syndrome, adult type NCBI curation C4016993 16 Feb 2016 Disease Chediak-Higashi syndrome, childhood type NCBI curation C4016992 16 Feb 2016 Disease Cheek mucosa cancer MONDO C0153373 MONDO:0004645 17 Apr 2020 Disease Cheilitis Human Phenotype Ontology C0007971 HP:0100825 16 Feb 2016 Finding Cheilitis glandularis C0267034 118330 16 Feb 2016 Disease Cheirospondyloenchondromatosis MONDO C4510810 MONDO:0020474 17 Apr 2020 Disease CHEK2-Related Cancer Susceptibility CN239278 02 Dec 2016 Disease Chemical colitis MONDO MONDO:0000706 17 Apr 2020 Disease Chemically-induced disorder MONDO MONDO:0029001 17 Apr 2020 Disease Chemke Oliver Mallek syndrome 16 Feb 2016 Disease Chemodectoma, intraabdominal, with cutaneous angiolipomas NCBI curation C2930928 118350 16 Feb 2016 Disease Chemosis Human Phenotype Ontology C0271298 HP:0012375 16 Feb 2016 Finding Chemotherapy-induced alopecia MONDO MONDO:0005483 17 Apr 2020 Disease Chemotherapy-induced hypertension MONDO MONDO:0005585 17 Apr 2020 Disease Chemotherapy-induced oral mucositis MONDO MONDO:0005588 17 Apr 2020 Disease Cherry allergy MONDO MONDO:0000781 17 Apr 2020 Disease Cherry hemangioma C0343082 01 Jun 2017 Finding Cherry red spot of the macula Human Phenotype Ontology C2216370 HP:0010729 16 Feb 2016 Finding Chess-pawn distal phalanges Human Phenotype Ontology C1862097 HP:0006170 16 Feb 2016 Finding chest deformation 25 Sep 2019 Finding Chest deformity 08 Feb 2020 Finding Chest pain Human Phenotype Ontology C0008031 HP:0100749 16 Feb 2016 Finding chest pain/angina/abnormal EKG or abnormal stress test with no symptoms NCBI curation CN168766 16 Feb 2016 Finding Chest tightness Human Phenotype Ontology C0232292 HP:0031352 04 Apr 2018 Finding Chest wall bone cancer MONDO C1334572 MONDO:0003933 17 Apr 2020 Disease Chest wall lipoma MONDO C1332932 MONDO:0000971 17 Apr 2020 Disease Chest wall lymphoma MONDO C1332933 MONDO:0003985 17 Apr 2020 Disease Chest wall parachordoma MONDO C1332934 MONDO:0004443 17 Apr 2020 Disease Chester-type porphyria C0268322 16 Feb 2016 Disease Chewing difficulties Human Phenotype Ontology C0239043 HP:0005216 16 Feb 2016 Finding Cheyne-Stokes respiration Human Phenotype Ontology C0008039 HP:0012196 16 Feb 2016 Finding Chiari 1 malformation 05 Sep 2019 Disease Chiari malformation type I C0750929 118420 16 Feb 2016 Disease CHIARI MALFORMATION TYPE I WITH SYRINGOMYELIA 16 Feb 2016 Disease Chiari malformation type II NCBI curation C0555206 207950 16 Feb 2016 Disease Chiari malformation type III C0750931 16 Feb 2016 Disease Chiari malformation type IV C0750932 16 Feb 2016 Disease Chiari-Frommel syndrome 16 Feb 2016 Disease Chicken egg allergy MONDO MONDO:0000769 17 Apr 2020 Disease Chickenpox MONDO C0008049 MONDO:0005700 04 Jun 2020 Infectious disease Chief cell adenoma MONDO C0334320 MONDO:0004302 17 Apr 2020 Disease Chikungunya fever C0008055 16 Feb 2016 Infectious disease Chilaiditi syndrome 16 Feb 2016 Disease Chilblain lesions Human Phenotype Ontology C4024224 HP:0009710 16 Feb 2016 Finding Chilblain Lupus C0024145 02 Dec 2016 Disease Chilblain lupus 1 NCBI curation C3277619 610448 24 Aug 2016 Disease Chilblain lupus 2 NCBI curation C3280721 614415 16 Feb 2016 Disease Chilblain lupus erythematosus NCBI curation C4551515 16 Feb 2016 Disease Chilblains 16 Feb 2016 Disease Child affected with an autosomal dominant KBG syndrome. 30 Jun 2018 Finding Child affected with an autosomal dominant Lissencephaly-1 14 Jun 2018 Finding Child affected with an autosomal dominant Lissencephaly-1. 14 Jun 2018 Finding Child affected with hypotonia, apnea, limb dystonia, delayed motor development 08 Jul 2019 Finding Child affected with limb-girdle muscular dystrophy type 2J due to a homozygous mutation c.104576G>A (p.Arg34859Gln) in TTN gene. 09 Aug 2018 Finding child development disorder 05 Sep 2019 Finding child in foster care C0580719 18 Jan 2019 Finding Child is affected with Familial Haemophagocytic Lymphohistiocytosis-2 due to a variation in PRF1 gene. 13 Jul 2018 Finding Child syndrome C0265267 308050 16 Feb 2016 Disease Child was affected with Congenital Myasthenic Syndrome-10 due to a compound heterozygous variation in DOK7 gene. 24 May 2018 Finding Child with chromosome 5 duplication CN237115 08 Jul 2016 Finding Child with chromosome abnormality 22 Jun 2020 Finding Child, born to consanguineous parents, displayed increased level of Acetyl carnitine. During gestation period the child suffered from oligohydramnios. MDCT brain report suggested generalized cerebral atrophic changes. However no evident intra cranial hemorrhage or collection was observed. Sleep EEG was normal and Chest X-ray displayed no evident parenchymal infiltration, reticulation, calcification or mass lesions 20 Jul 2017 Finding Childhood absence epilepsy Orphanet C4281785 ORPHA64280 26 Dec 2017 Disease Childhood acute myeloid leukemia MONDO C0220621 MONDO:0004996 22 Apr 2020 Disease Childhood anaplastic large cell lymphoma NCBI curation C1332942 16 Feb 2016 Disease Childhood aortic valve stenosis MONDO MONDO:0022471 17 Apr 2020 Disease Childhood astrocytic tumor MONDO C1321865 MONDO:0002505 17 Apr 2020 Disease Childhood bladder carcinoma MONDO C3899675 MONDO:0022578 11 Jun 2020 Disease Childhood botryoid rhabdomyosarcoma MONDO C1332944 MONDO:0003992 17 Apr 2020 Disease Childhood brain germinoma MONDO C1332948 MONDO:0004217 17 Apr 2020 Disease Childhood brain meningioma MONDO C1332949 MONDO:0004046 17 Apr 2020 Disease Childhood brain stem glioma MONDO C0278600 MONDO:0003869 22 Apr 2020 Disease Childhood brain stem neoplasm MONDO C1332951 MONDO:0002914 17 Apr 2020 Disease Childhood brainstem astrocytoma MONDO C1332950 MONDO:0003870 17 Apr 2020 Disease Childhood central nervous system embryonal carcinoma MONDO C1377605 MONDO:0004153 17 Apr 2020 Disease Childhood central nervous system germ cell tumor MONDO C0278754 MONDO:0003750 17 Apr 2020 Disease Childhood central nervous system germinoma MONDO C1332953 MONDO:0004452 17 Apr 2020 Disease Childhood central nervous system immature teratoma MONDO C1332954 MONDO:0003958 17 Apr 2020 Disease Childhood central nervous system mature teratoma MONDO C1332955 MONDO:0003875 17 Apr 2020 Disease Childhood central nervous system mixed germ cell tumor MONDO C1332956 MONDO:0004257 17 Apr 2020 Disease Childhood central nervous system primitive neuroectodermal neoplasm MONDO C1332957 MONDO:0002798 17 Apr 2020 Disease Childhood cerebellar astrocytic neoplasm MONDO C0278594 MONDO:0003842 17 Apr 2020 Disease Childhood cerebellar neoplasm MONDO C1332959 MONDO:0003263 17 Apr 2020 Disease childhood cerebral ALD, adrenomyeloneuropathy, and addison-only disease CN224847 16 Feb 2016 Finding Childhood cerebral astrocytoma MONDO C0338070 MONDO:0004071 22 Apr 2020 Disease Childhood choriocarcinoma of the ovary MONDO C1332987 MONDO:0004535 17 Apr 2020 Disease Childhood choroid plexus neoplasm MONDO C0280623 MONDO:0024744 17 Apr 2020 Disease Childhood disintegrative disease MONDO MONDO:0001726 17 Apr 2020 Disease Childhood disintegrative disorder C0236791 16 Feb 2016 Disease Childhood electroclinical syndrome MONDO MONDO:0000414 17 Apr 2020 Disease Childhood embryonal testis carcinoma MONDO C1333007 MONDO:0003788 17 Apr 2020 Disease Childhood endodermal sinus tumor MONDO C1333016 MONDO:0003400 17 Apr 2020 Disease Childhood eosinophilic esophagitis MONDO MONDO:0005407 17 Apr 2020 Disease Childhood ependymoma MONDO C1851584 MONDO:0003478 17 Apr 2020 Disease Childhood epilepsy C4315525 12 Feb 2019 Disease Childhood epithelioid sarcoma MONDO C0279989 MONDO:0004105 17 Apr 2020 Disease Childhood extraosseous osteosarcoma MONDO C1332968 MONDO:0004176 17 Apr 2020 Disease Childhood ganglioglioma NCBI curation C1332969 13 Dec 2017 Disease Childhood germ cell brain tumor MONDO C1377598 MONDO:0004218 17 Apr 2020 Disease Childhood germ cell tumor MONDO C0279014 MONDO:0003751 17 Apr 2020 Disease Childhood hepatocellular carcinoma NCBI curation C0279606 16 Feb 2016 Disease Childhood hypophosphatasia C0220743 241510 16 Feb 2016 Disease Childhood immature teratoma of ovary MONDO C1332990 MONDO:0004082 17 Apr 2020 Disease Childhood infratentorial neoplasm MONDO C1332973 MONDO:0002915 17 Apr 2020 Disease Childhood intracortical osteosarcoma MONDO C1332974 MONDO:0004306 17 Apr 2020 Disease Childhood kidney angiomyolipoma MONDO C1333000 MONDO:0004554 17 Apr 2020 Disease Childhood kidney cell carcinoma MONDO C1333001 MONDO:0003007 17 Apr 2020 Disease Childhood kidney neoplasm MONDO C1333003 MONDO:0002730 17 Apr 2020 Disease Childhood kidney Wilms tumor MONDO C1333015 MONDO:0024676 17 Apr 2020 Disease Childhood leukemia MONDO C1332977 MONDO:0004355 17 Apr 2020 Disease Childhood malignant hemangiopericytoma MONDO C0279983 MONDO:0004344 17 Apr 2020 Disease Childhood malignant kidney neoplasm MONDO C4086162 MONDO:0036511 17 Apr 2020 Disease Childhood malignant mesenchymoma MONDO C0279991 MONDO:0003691 17 Apr 2020 Disease Childhood malignant neoplasm MONDO C0278704 MONDO:0006517 17 Apr 2020 Disease Childhood malignant schwannoma MONDO C0279987 MONDO:0004345 17 Apr 2020 Disease Childhood mature teratoma of the ovary MONDO C1332991 MONDO:0003818 17 Apr 2020 Disease Childhood mediastinal neurogenic neoplasm MONDO C1332981 MONDO:0003097 17 Apr 2020 Disease Childhood medulloblastoma MONDO C0278510 MONDO:0002797 22 Apr 2020 Disease Childhood multilocular cystic kidney neoplasm MONDO C1332983 MONDO:0004356 17 Apr 2020 Disease Childhood myelodysplastic syndrome MONDO C2347761 MONDO:0044873 17 Apr 2020 Disease Childhood myocerebrohepatopathy spectrum C3713421 13 May 2020 Disease Childhood Myocerebrohepatopathy Spectrum Disorders CN169379 16 Feb 2016 Disease Childhood neoplasm MONDO C1368871 MONDO:0021079 17 Apr 2020 Disease Childhood obesity C2362324 30 Mar 2018 Finding Childhood oligodendroglioma MONDO C0280475 MONDO:0002540 17 Apr 2020 Disease Childhood onset 27 Apr 2018 Finding Childhood onset asthma MONDO C0264408 MONDO:0005405 17 Apr 2020 Disease Childhood onset diabetes mellitus 01 Nov 2018 Finding Childhood Onset Dystonias NCBI curation C0752202 15 Feb 2019 Disease Childhood onset sensorineural hearing impairment Human Phenotype Ontology C4023340 HP:0011474 16 Feb 2016 Finding Childhood onset short-limb short stature Human Phenotype Ontology C1867487 HP:0011405 16 Feb 2016 Finding Childhood optic nerve glioma MONDO MONDO:0003932 17 Apr 2020 Disease Childhood optic tract astrocytoma MONDO C1333014 MONDO:0003931 17 Apr 2020 Disease Childhood ovarian embryonal carcinoma MONDO C1332989 MONDO:0004441 17 Apr 2020 Disease Childhood ovarian yolk sac tumor MONDO C1332993 MONDO:0003759 17 Apr 2020 Disease Childhood parosteal osteosarcoma MONDO C1332994 MONDO:0003654 17 Apr 2020 Disease Childhood pilocytic astrocytoma MONDO C1332995 MONDO:0004000 17 Apr 2020 Disease Childhood pleomorphic rhabdomyosarcoma MONDO C0279614 MONDO:0004233 17 Apr 2020 Disease Childhood precursor T-lymphoblastic lymphoma/leukemia MONDO C1332997 MONDO:0004403 17 Apr 2020 Disease Childhood spinal cord tumor MONDO C1134515 MONDO:0002716 17 Apr 2020 Disease Childhood teratoma of the ovary MONDO C1332992 MONDO:0003819 17 Apr 2020 Disease Childhood testicular choriocarcinoma MONDO C1333006 MONDO:0003786 17 Apr 2020 Disease Childhood testicular germ cell tumor MONDO C0796663 MONDO:0003758 17 Apr 2020 Disease Childhood testicular mixed embryonal carcinoma and teratoma MONDO C1333008 MONDO:0003888 17 Apr 2020 Disease Childhood testicular mixed germ cell cancer MONDO C1333009 MONDO:0003787 17 Apr 2020 Disease Childhood testicular neoplasm MONDO C1333010 MONDO:0037250 17 Apr 2020 Disease Childhood type dermatomyositis C0263666 16 Feb 2016 Disease Childhood vagina botryoid rhabdomyosarcoma MONDO C1332945 MONDO:0003993 17 Apr 2020 Disease Childhood Visual Pathway Glioma C0278653 15 Mar 2019 Disease Childhood-onset autosomal recessive myopathy with external ophthalmoplegia MONDO C5192594 MONDO:0018206 17 Apr 2020 Disease Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia Orphanet C1836474 ORPHA284324 609270 16 May 2016 Disease Childhood-onset cerebral X-linked adrenoleukodystrophy CN036464 16 Feb 2016 Disease Childhood-onset epilepsy syndrome MONDO CN206976 MONDO:0020072 17 Apr 2020 Disease Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder MONDO C4540086 MONDO:0044701 617672 17 Apr 2020 Disease Childhood-onset nemaline myopathy MONDO C0546125 MONDO:0015738 17 Apr 2020 Disease Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome MONDO CN776870 MONDO:0018759 17 Apr 2020 Disease Childhood-Onset Schizophrenia C0036346 16 Feb 2016 Disease Childhood-onset short-trunk short stature Human Phenotype Ontology C3148833 HP:0008922 16 Feb 2016 Finding Childhood-onset truncal obesity Human Phenotype Ontology C1859846 HP:0008915 16 Feb 2016 Finding Children homozygous for the pathogenic variant c.395A> CN219582 16 Feb 2016 Finding Children's interstitial lung disease 16 Feb 2016 Disease Chills Human Phenotype Ontology C0085593 HP:0025143 02 Apr 2017 Finding CHIME syndrome MONDO C1848392 MONDO:0010221 280000 22 Apr 2020 Disease Chin with H-shaped crease Human Phenotype Ontology C1860309 HP:0011824 16 Feb 2016 Finding Chin with horizontal crease Human Phenotype Ontology C4023171 HP:0011823 16 Feb 2016 Finding Chin with vertical crease Human Phenotype Ontology C4020916 HP:0400001 16 Feb 2016 Finding Chinese restaurant syndrome C0008127 231630 16 Feb 2016 Disease Chitayat Haj Chahine syndrome 16 Feb 2016 Disease Chitayat Meunier Hodgkinson syndrome 16 Feb 2016 Disease Chitayat syndrome NCBI curation C4310679 617180 20 Jun 2017 Disease Chitotriosidase deficiency NCBI curation C3279902 614122 16 Feb 2016 Disease Chitty Hall Webb syndrome C2931066 16 Feb 2016 Disease Chlamydia infectious disease MONDO CN281873 MONDO:0021697 04 Jun 2020 Infectious disease Chlamydia trachomatis infectious disease MONDO CN281773 MONDO:0005701 04 Jun 2020 Infectious disease Chlamydiaceae infections MONDO C0008153 MONDO:0020776 04 Jun 2020 Infectious disease Chlid is affected with Familial Haemophagocytic Lymphohistiocytosis-2 due to variation in PRF1 gene. 13 Jul 2018 Finding Chloramphenicol resistance NCBI curation CN043118 16 Feb 2016 Pharmacological response Chloramphenicol toxicity NCBI curation C1838989 515000 16 Feb 2016 Disease Chloroquine response CN077969 16 Feb 2016 Pharmacological response chlorproguanil and dapsone response - Toxicity/ADR PharmGKB CN236472 981352141 18 May 2016 Pharmacological response Chlorpropamide response NCBI curation CN427423 01 Sep 2017 Pharmacological response Chlorpropamide-alcohol flushing NCBI curation C1861630 118430 16 Feb 2016 Disease Choanal atresia Human Phenotype Ontology C0008297 HP:0000453 16 Feb 2016 Finding Choanal atresia and lymphedema NCBI curation C3150875 613611 16 Feb 2016 Disease Choanal atresia deafness cardiac defects dysmorphia 16 Feb 2016 Disease Choanal atresia with radial ray hypoplasia C2931464 179270 16 Feb 2016 Disease Choanal atresia, unilateral MONDO CN199280 MONDO:0015312 17 Apr 2020 Disease Choanal stenosis Human Phenotype Ontology C0584837 HP:0000452 16 Feb 2016 Finding choking C0008301 16 Feb 2016 Finding Choking episodes Human Phenotype Ontology C4280747 HP:0030842 02 Apr 2017 Finding choking sensation 18 Jan 2019 Finding Cholangiocarcinoma Human Phenotype Ontology C0206698 HP:0030153 16 Feb 2016 Finding Cholangiocarcinoma, susceptibility to NCBI curation C3810156 615619 16 Feb 2016 Disease Cholangiolocellular carcinoma MONDO C1516490 MONDO:0004315 17 Apr 2020 Disease Cholangitis Human Phenotype Ontology C0008311 HP:0030151 16 Feb 2016 Finding Cholecystitis Human Phenotype Ontology C0008325 HP:0001082 16 Feb 2016 Finding CHOLECYSTOKININ A RECEPTOR POLYMORPHISM 16 Feb 2016 Disease Cholecystolithiasis MONDO C0947622 MONDO:0006698 17 Apr 2020 Disease Choledochal cyst, hand malformation 16 Feb 2016 Disease Choledocholithiasis MONDO C0701818 MONDO:0006699 17 Apr 2020 Disease Cholelithiasis Human Phenotype Ontology C0008350 HP:0001081 16 Feb 2016 Finding Cholemia, familial 16 Feb 2016 Disease Cholera C0008354 16 Feb 2016 Infectious disease Cholestanol storage disease C0238052 213700 16 Feb 2016 Disease Cholestasis Human Phenotype Ontology C0008370 HP:0001396 16 Feb 2016 Finding Cholestasis of pregnancy C3549845 147480 16 Feb 2016 Disease Cholestasis pigmentary retinopathy cleft palate 16 Feb 2016 Disease Cholestasis with gallstone, ataxia, and visual disturbance NCBI curation C1859161 214980 16 Feb 2016 Disease Cholestasis, benign recurrent intrahepatic 1 NCBI curation C4551899 243300 26 May 2016 Disease Cholestasis, infantile, NR1H4 related CN236387 29 Apr 2016 Disease Cholestasis, intrahepatic, of pregnancy 3 NCBI curation C3554241 614972 16 Feb 2016 Disease Cholestasis, progressive familial intrahepatic 1 NCBI curation C4551898 211600 25 Jan 2020 Disease Cholestasis, progressive familial intrahepatic, (PFIC4-like) 06 Nov 2019 Disease Cholestasis, progressive familial intrahepatic, 5 NCBI curation C4310747 617049 24 Aug 2016 Disease Cholestasis-edema syndrome, Norwegian type C0268314 214900 16 Feb 2016 Disease Cholestasis-pigmentary retinopathy-cleft palate syndrome MONDO C0795969 MONDO:0012997 612726 17 Apr 2020 Disease Cholestatic jaundice renal tubular insufficiency 16 Feb 2016 Disease Cholestatic liver disease Human Phenotype Ontology C0860204 HP:0002611 16 Feb 2016 Finding Cholesteatoma (disease) MONDO C0008373 MONDO:0006530 17 Apr 2020 Disease Cholesteatoma of attic MONDO C0155489 MONDO:0006531 17 Apr 2020 Disease Cholesteatoma of external ear MONDO C0155398 MONDO:0006532 17 Apr 2020 Disease Cholesteatoma of middle ear MONDO C0155490 MONDO:0006533 17 Apr 2020 Disease Cholesterol biosynthetic process disease MONDO C0342829 MONDO:0045017 17 Apr 2020 Disease Cholesterol catabolic process disease MONDO C0342825 MONDO:0045016 17 Apr 2020 Disease Cholesterol embolism MONDO MONDO:0005568 17 Apr 2020 Disease Cholesterol ester transfer protein deficiency NCBI curation 16 Feb 2016 Disease Cholesterol esterification disorder 16 Feb 2016 Disease Cholesterol gallstones Human Phenotype Ontology C0856727 HP:0011980 16 Feb 2016 Finding Cholesterol level quantitative trait locus 1 NCBI curation C1858233 604595 16 Feb 2016 Disease Cholesterol level quantitative trait locus 2 NCBI curation C1853098 610760 16 Feb 2016 Disease Cholesterol metabolism disease MONDO C0342877 MONDO:0045008 17 Apr 2020 Disease Cholesterol monooxygenase (side-chain cleaving) deficiency C0342474 201710 16 Feb 2016 Disease Cholesterol pneumonia C0549472 215030 16 Feb 2016 Disease Cholesterolosis of gallbladder MONDO C0152456 MONDO:0000987 17 Apr 2020 Disease Cholesteryl ester storage disease Orphanet C0008384 ORPHA75234 06 Sep 2017 Disease Choline deficiency disease MONDO C0008412 MONDO:0004575 17 Apr 2020 Disease Cholinergic urticaria MONDO C0152230 MONDO:0006534 17 Apr 2020 Disease Chondritis Human Phenotype Ontology C1285334 HP:0100662 16 Feb 2016 Finding Chondritis of pinna Human Phenotype Ontology C0741305 HP:0200047 16 Feb 2016 Finding Chondroblastic osteosarcoma MONDO C0279603 MONDO:0002627 17 Apr 2020 Disease Chondroblastoma (disease) MONDO C0008441 MONDO:0004997 17 Apr 2020 Disease Chondrocalcinosis Human Phenotype Ontology C0553730 HP:0000934 16 Feb 2016 Finding Chondrocalcinosis 2, sporadic NCBI curation C4016917 16 Feb 2016 Disease Chondrocalcinosis due to apatite crystal deposition C1861580 118610 16 Feb 2016 Disease Chondrodysplasia NCBI curation C0343284 16 Feb 2016 Disease Chondrodysplasia Blomstrand type C1859148 215045 16 Feb 2016 Disease Chondrodysplasia calcificans metaphysealis C1859147 215050 16 Feb 2016 Disease Chondrodysplasia lethal recessive 16 Feb 2016 Disease Chondrodysplasia punctata NCBI curation C0008445 16 Feb 2016 Disease Chondrodysplasia punctata 2 X-linked dominant NCBI curation C0282102 302960 28 May 2020 Disease Chondrodysplasia punctata 2, X-linked dominant, atypical NCBI curation C4016464 23 Sep 2018 Disease Chondrodysplasia punctata due to warfarin teratogenicity NCBI curation 16 Feb 2016 Disease Chondrodysplasia punctata Sheffield type 16 Feb 2016 Disease Chondrodysplasia punctata with steroid sulfatase deficiency 16 Feb 2016 Disease Chondrodysplasia punctata, autosomal dominant NCBI curation C1442935 118650 16 Feb 2016 Disease Chondrodysplasia punctata, brachytelephalangic, autosomal NCBI curation C1865288 602497 16 Feb 2016 Disease Chondrodysplasia punctata, humero-metacarpal type 16 Feb 2016 Disease Chondrodysplasia punctata, MT type NCBI curation C0432224 118651 16 Feb 2016 Disease Chondrodysplasia punctata, Toriello type MONDO C1859132 MONDO:0008973 215105 17 Apr 2020 Disease Chondrodysplasia situs inversus imperforate anus polydactyly MONDO MONDO:0023472 17 Apr 2020 Disease Chondrodysplasia with joint dislocations, GPAPP type NCBI curation C3279757 614078 16 Feb 2016 Disease Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia NCBI curation C3275476 300863 16 Feb 2016 Disease Chondrodysplasia, lethal, with long bone angulation and mixed bone density NCBI curation C1832410 601376 16 Feb 2016 Disease Chondrodysplasia-pseudohermaphroditism syndrome MONDO C1838654 MONDO:0010814 600092 17 Apr 2020 Disease Chondrodystrophy 16 Feb 2016 Disease Chondroectodermal dysplasia with night blindness MONDO CN203917 MONDO:0017869 17 Apr 2020 Disease Chondrogenic neoplasm MONDO C0476147 MONDO:0024469 17 Apr 2020 Disease Chondroid chordoma MONDO C1266173 MONDO:0006145 17 Apr 2020 Disease Chondroid hamartoma MONDO C1707390 MONDO:0006146 17 Apr 2020 Disease Chondroid lipoma MONDO C1266131 MONDO:0000977 17 Apr 2020 Disease Chondroitin sulfate excretion in urine Human Phenotype Ontology C4023059 HP:0012070 16 Feb 2016 Finding Chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome NCBI curation C1859104 215250 16 Feb 2016 Disease Chondroma C0936248 16 Feb 2016 Disease Chondromalacia C0085700 16 Feb 2016 Disease Chondromalacia of patella C0008475 168900 16 Feb 2016 Disease Chondromyxoid fibroma MONDO C0221290 MONDO:0018447 17 Apr 2020 Disease Chondronectin NCBI curation C3887693 118670 16 Feb 2016 Disease Chondrosarcoma Human Phenotype Ontology C0008479 HP:0006765 215300 16 Feb 2016 Disease Chondrosarcoma, sporadic NCBI curation C4017145 16 Feb 2016 Disease Chops syndrome NCBI curation C4085597 616368 16 Feb 2016 Disease Chorangioma Human Phenotype Ontology C0677608 HP:0100883 16 Feb 2016 Finding Chordee Human Phenotype Ontology C0221182 HP:0000041 16 Feb 2016 Finding Chordoid glioma of the third ventricle C1322252 16 Feb 2016 Disease Chordoid meningioma MONDO C1370510 MONDO:0004544 17 Apr 2020 Disease Chordoma Human Phenotype Ontology C0008487 HP:0010762 215400 16 Feb 2016 Disease Chorea Human Phenotype Ontology C0008489 HP:0002072 16 Feb 2016 Finding Chorea gravidarum MONDO C0264746 MONDO:0001976 17 Apr 2020 Disease Chorea, benign familial NCBI curation C1859098 215450 16 Feb 2016 Disease Chorea, childhood-onset, with psychomotor retardation NCBI curation C4310787 616939 24 Jun 2016 Disease Chorea, remitting with nystagmus and cataract NCBI curation C1832422 601372 21 Sep 2018 Disease Choreoacanthocytosis C0393576 200150 16 Feb 2016 Disease Choreoacanthocytosis amyotrophic 16 Feb 2016 Disease choreoatetotic movements in hands 15 Nov 2019 Finding Choreoathetoid cerebral palsy 27 Apr 2018 Finding Choreoathetosis C0085583 16 Feb 2016 Disease Choreoathetosis and congenital hypothyroidism NCBI curation C1970270 16 Feb 2016 Disease Choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress CN860324 13 Mar 2018 Disease Choreoathetosis, familial inverted NCBI curation C1861569 118750 16 Feb 2016 Disease Choreoathetosis, hypothyroidism, and neonatal respiratory distress NCBI curation C1970269 610978 16 Feb 2016 Disease Chorioamnionitis MONDO C0008495 MONDO:0000409 04 Jun 2020 Infectious disease Choriocapillaris atrophy Human Phenotype Ontology C3275758 HP:0030491 16 Feb 2016 Finding Choriocarcinoma (disease) MONDO C0008497 MONDO:0005207 17 Apr 2020 Disease Choriocarcinoma of ovary MONDO C0346181 MONDO:0003507 17 Apr 2020 Disease Choriocarcinoma of testis MONDO C0238449 MONDO:0003508 17 Apr 2020 Disease Chorioretinal abnormality Human Phenotype Ontology C4025844 HP:0000532 16 Feb 2016 Finding Chorioretinal atrophy Human Phenotype Ontology C4048273 HP:0000533 16 Feb 2016 Finding Chorioretinal coloboma Human Phenotype Ontology C0240896 HP:0000567 16 Feb 2016 Finding Chorioretinal degeneration Human Phenotype Ontology C0521683 HP:0200065 16 Feb 2016 Finding Chorioretinal dysplasia Human Phenotype Ontology C4024809 HP:0007731 16 Feb 2016 Finding Chorioretinal dystrophy Human Phenotype Ontology C1857627 HP:0001135 16 Feb 2016 Finding Chorioretinal hyperpigmentation Human Phenotype Ontology C4022482 HP:0040031 16 Feb 2016 Finding Chorioretinal hypopigmentation Human Phenotype Ontology C4022483 HP:0040030 16 Feb 2016 Finding Chorioretinal lacunae Human Phenotype Ontology C1844751 HP:0007858 16 Feb 2016 Finding Chorioretinal scar Human Phenotype Ontology C0008512 HP:0007777 16 Feb 2016 Finding Chorioretinitis (disease) MONDO C0008513 MONDO:0004674 17 Apr 2020 Disease Choroid cancer MONDO MONDO:0006700 17 Apr 2020 Disease choroid cyst 05 Sep 2019 Finding Choroid epithelioid cell melanoma MONDO C1333024 MONDO:0004085 17 Apr 2020 Disease Choroid hemorrhage Human Phenotype Ontology C0008522 HP:0011887 16 Feb 2016 Finding Choroid mixed cell melanoma MONDO C1333025 MONDO:0003913 17 Apr 2020 Disease Choroid necrotic melanoma MONDO C1333026 MONDO:0004364 17 Apr 2020 Disease Choroid neoplasm MONDO C0008523 MONDO:0021258 17 Apr 2020 Disease Choroid plexus calcification Human Phenotype Ontology C1863184 HP:0006960 16 Feb 2016 Finding Choroid plexus cancer MONDO MONDO:0002681 17 Apr 2020 Disease Choroid plexus carcinoma Human Phenotype Ontology C0431109 HP:0030392 16 Feb 2016 Disease Choroid plexus cyst Human Phenotype Ontology C0338597 HP:0002190 16 Feb 2016 Disease Choroid plexus cyst MedGen UID:87376 22 Jun 2020 Finding Choroid Plexus Cysts 22 Jun 2020 Finding Choroid plexus cysts of the lateral ventricles 23 Jan 2020 Finding Choroid plexus meningioma MONDO C0431118 MONDO:0003053 17 Apr 2020 Disease Choroid plexus neoplasm MONDO C0085138 MONDO:0016717 17 Apr 2020 Disease Choroid plexus papilloma Human Phenotype Ontology C0205770 HP:0200022 260500 16 Feb 2016 Disease Choroid spindle cell melanoma MONDO C1333027 MONDO:0003745 17 Apr 2020 Disease Choroidal atrophy-alopecia syndrome MONDO C2931026 MONDO:0015428 17 Apr 2020 Disease Choroidal Dystrophy C0730291 02 Dec 2016 Disease Choroidal dystrophy central areolar NCBI curation C1536451 16 Feb 2016 Disease Choroidal dystrophy, central areolar 1 NCBI curation C4551884 215500 26 Dec 2019 Disease Choroidal dystrophy, central areolar 2 NCBI curation C2751290 613105 16 Feb 2016 Disease Choroidal dystrophy, central areolar 3 NCBI curation C2751055 613144 16 Feb 2016 Disease Choroidal hemangioma Human Phenotype Ontology C0346390 HP:0007872 16 Feb 2016 Finding Choroidal melanoma Human Phenotype Ontology C0346388 HP:0012054 16 Feb 2016 Finding Choroidal neovascularization Human Phenotype Ontology C0600518 HP:0011506 04 Apr 2018 Finding Choroidal nevus Human Phenotype Ontology C0346392 HP:0025314 02 Apr 2017 Finding Choroidal osteoma, bilateral NCBI curation C1861558 118865 16 Feb 2016 Disease Choroideremia Human Phenotype Ontology C0008525 HP:0001139 303100 16 Feb 2016 Disease Choroideremia hypopituitarism 16 Feb 2016 Disease Choroideremia, Salla type NCBI curation C4016478 06 Mar 2016 Disease Choroideremia-deafness-obesity syndrome MONDO C3551019 MONDO:0010558 303110 17 Apr 2020 Disease Choroideremia-hypopituitarism syndrome MONDO MONDO:0015429 17 Apr 2020 Disease Choroiditis 16 Feb 2016 Disease Christian Demyer Franken syndrome 16 Feb 2016 Disease Christian Johnson Angenieta syndrome 16 Feb 2016 Disease Christianson syndrome C2678194 300243 16 Feb 2016 Disease CHRNA1-Related Congenital Myasthenic Syndrome NCBI curation CN119608 16 Feb 2016 Disease CHRNA3-related condition 10 Jan 2020 Finding CHRNG-Related Disorders 23 May 2019 Disease Chromate resistance NCBI curation C1861559 118840 16 Feb 2016 Disease Chromhidrosis C0263473 16 Feb 2016 Disease Chromomycosis CN281697 16 Feb 2016 Infectious disease Chromophil adenoma of the kidney MONDO C1518879 MONDO:0003829 17 Apr 2020 Disease Chromophil renal cell carcinoma 16 Feb 2016 Disease Chromophobe adenoma MONDO C0001432 MONDO:0006701 17 Apr 2020 Disease Chromophobe renal cell carcinoma NCBI curation C1266042 16 Feb 2016 Disease chromosomal abnormality 05 Sep 2019 Finding Chromosomal anomaly MONDO CN205524 MONDO:0019040 17 Apr 2020 Disease Chromosomal anomaly with cataract MONDO CN227830 MONDO:0020226 17 Apr 2020 Disease Chromosomal anomaly with epilepsy as a major feature MONDO CN226719 MONDO:0015652 17 Apr 2020 Disease Chromosomal breakage induced by crosslinking agents Human Phenotype Ontology C4021737 HP:0003221 16 Feb 2016 Finding Chromosomal breakage induced by ionizing radiation Human Phenotype Ontology C4021206 HP:0010997 16 Feb 2016 Finding Chromosomal disease with overgrowth MONDO CN206622 MONDO:0019717 17 Apr 2020 Disease Chromosomal instability with tissue-specific radiosensitivity NCBI curation C1859091 215510 16 Feb 2016 Disease chromosomal translocation 05 Sep 2019 Finding Chromosome 1, deletion q21 q25 CN037108 16 Feb 2016 Disease Chromosome 1, duplication 1p21 p32 CN037081 16 Feb 2016 Disease Chromosome 1, monosomy 1p22 p13 CN035996 16 Feb 2016 Disease Chromosome 1, monosomy 1p31 p22 CN036698 16 Feb 2016 Disease Chromosome 1, monosomy 1p32 CN035956 16 Feb 2016 Disease Chromosome 1, monosomy 1p34 p32 CN036610 16 Feb 2016 Disease Chromosome 1, monosomy 1q25 q32 CN036899 16 Feb 2016 Disease Chromosome 1, monosomy 1q32 q42 CN035927 16 Feb 2016 Disease Chromosome 1, q42 11 q42 12 duplication 16 Feb 2016 Disease Chromosome 1, trisomy 1q32 qter CN035863 16 Feb 2016 Disease Chromosome 1, trisomy 1q42-qter CN036635 16 Feb 2016 Disease Chromosome 1, uniparental disomy 1q12 q21 CN035970 16 Feb 2016 Disease Chromosome 10, distal trisomy 10q CN036973 16 Feb 2016 Disease Chromosome 10, trisomy 10pter p13 CN036182 16 Feb 2016 Disease Chromosome 10p12-p11 deletion syndrome NCBI curation CN234877 16 Feb 2016 Disease Chromosome 10q22.3-q23.2 deletion syndrome NCBI curation C4225669 612242 24 Aug 2016 Disease Chromosome 10q26 deletion syndrome NCBI curation C2674937 609625 16 Feb 2016 Disease Chromosome 11, deletion 11p C0812435 16 Feb 2016 Disease Chromosome 11, partial trisomy 11q CN036243 16 Feb 2016 Disease Chromosome 11;14 translocation CN072184 16 Feb 2016 Disease Chromosome 11p, partial deletion C2931802 16 Feb 2016 Disease CHROMOSOME 11p11.2 DELETION SYNDROME, 91.3-KB CN252688 09 Aug 2018 Disease Chromosome 11p13 deletion syndrome, distal NCBI curation C4311047 616902 26 May 2016 Disease Chromosome 11q trisomy C0795842 16 Feb 2016 Disease Chromosome 12p deletion C0795844 16 Feb 2016 Disease Chromosome 12p partial deletion 16 Feb 2016 Disease CHROMOSOME 12q15 DELETION SYNDROME CN262379 06 Oct 2019 Disease Chromosome 13, partial monosomy 13q C2930904 16 Feb 2016 Disease Chromosome 13p duplication CN037021 16 Feb 2016 Disease Chromosome 13q deletion CN037242 16 Feb 2016 Disease Chromosome 13q trisomy C0795849 16 Feb 2016 Disease Chromosome 13q-mosaicism CN037259 16 Feb 2016 Disease Chromosome 14 deletion CN072185 16 Feb 2016 Disease Chromosome 14 trisomy C0795851 16 Feb 2016 Disease Chromosome 14, deletion 14q, partial duplication 14p CN036548 16 Feb 2016 Disease Chromosome 14;16 translocation CN072186 16 Feb 2016 Disease Chromosome 14q, partial deletions CN036186 16 Feb 2016 Disease Chromosome 14q, proximal duplication CN037151 16 Feb 2016 Disease Chromosome 14q, terminal deletion 16 Feb 2016 Disease Chromosome 14q11-q22 deletion syndrome NCBI curation C3150707 613457 16 Feb 2016 Disease CHROMOSOME 14q32 DELETION SYNDROME CN257740 18 Oct 2018 Disease Chromosome 14q32 duplication syndrome, 700-kb NCBI curation C4225449 616604 16 Feb 2016 Disease Chromosome 15, distal trisomy 15q C2931704 16 Feb 2016 Disease Chromosome 15q duplication mosaicism CN072187 16 Feb 2016 Disease Chromosome 15q, partial deletion CN072188 16 Feb 2016 Disease Chromosome 15q, tetrasomy C0795859 16 Feb 2016 Disease Chromosome 15q11-q13 duplication syndrome NCBI curation C2675336 608636 16 Feb 2016 Disease Chromosome 15q11.2 deletion syndrome NCBI curation C3180937 615656 16 Feb 2016 Disease Chromosome 15q11.2 duplication syndrome NCBI curation C3807826 16 Feb 2016 Disease Chromosome 15q11.2 microduplication syndrome NCBI curation 16 Feb 2016 Disease Chromosome 15q13.3 microdeletion syndrome MONDO C2677613 MONDO:0012774 612001 22 Apr 2020 Disease Chromosome 15q14 deletion syndrome NCBI curation C4225666 616898 26 May 2016 Disease Chromosome 15q24 deletion syndrome NCBI curation CN237818 24 Aug 2016 Disease Chromosome 15q24 duplication syndrome NCBI curation 16 Feb 2016 Disease Chromosome 15q25 deletion syndrome NCBI curation C3280355 614294 16 Feb 2016 Disease Chromosome 15q26-qter deletion syndrome NCBI curation C2675463 612626 16 Feb 2016 Disease Chromosome 16 inversion, 0.45-mb NCBI curation C4014436 615835 16 Feb 2016 Disease Chromosome 16, trisomy CN036499 16 Feb 2016 Disease Chromosome 16, uniparental disomy C2931712 16 Feb 2016 Disease Chromosome 16-related alpha-thalassemia/mental retardation syndrome NCBI curation C0795917 141750 16 Feb 2016 Disease Chromosome 16p11.2 deletion syndrome, 220 kb NCBI curation C3150701 613444 16 Feb 2016 Disease Chromosome 16p11.2 duplication syndrome NCBI curation C3553407 614671 16 Feb 2016 Disease Chromosome 16p12.1 deletion syndrome, 520kb MONDO C3149276 MONDO:0007631 136570 04 Jun 2020 Disease Chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-MB NCBI curation C3150858 613604 16 Feb 2016 Disease Chromosome 16p13.2 deletion syndrome NCBI curation C4225667 616863 26 May 2016 Disease Chromosome 16p13.3 deletion syndrome MONDO C3502510 MONDO:0022752 17 Apr 2020 Disease Chromosome 16p13.3 duplication 16 Feb 2016 Disease Chromosome 16p13.3 duplication syndrome NCBI curation C3150708 613458 16 Feb 2016 Disease Chromosome 16q22 deletion syndrome NCBI curation C3281152 614541 16 Feb 2016 Disease Chromosome 17 abnormality MONDO C4329664 MONDO:0020583 17 Apr 2020 Disease Chromosome 17, deletion 17q23 q24 CN036481 16 Feb 2016 Disease Chromosome 17, duplication CN072189 16 Feb 2016 Disease Chromosome 17p deletion MONDO CN036220 MONDO:0022754 17 Apr 2020 Disease Chromosome 17p13.1 deletion syndrome NCBI curation C3151069 613776 16 Feb 2016 Disease Chromosome 17p13.3 deletion syndrome NCBI curation 16 Feb 2016 Disease Chromosome 17p13.3, centromeric, duplication syndrome NCBI curation C3808300 613215 24 Aug 2016 Disease Chromosome 17p13.3, telomeric, duplication syndrome NCBI curation C2675492 612576 24 Aug 2016 Disease Chromosome 17q11.2 deletion syndrome, 1.4 MB NCBI curation C3150928 613675 16 Feb 2016 Disease CHROMOSOME 17q11.2 DUPLICATION SYNDROME, 1.4-MB OMIM CN280889 618874 618874 09 May 2020 Disease Chromosome 17q12 deletion syndrome NCBI curation C3281138 614527 16 Feb 2016 Disease Chromosome 17q12 duplication syndrome NCBI curation C3281137 614526 16 Feb 2016 Disease Chromosome 17q21.31 duplication syndrome NCBI curation C3150787 613533 16 Feb 2016 Disease Chromosome 17q23.1-q23.2 deletion syndrome NCBI curation C3150607 613355 16 Feb 2016 Disease Chromosome 17q23.1-q23.2 duplication syndrome NCBI curation C3150880 613618 16 Feb 2016 Disease Chromosome 18 mosaic monosomy CN036727 16 Feb 2016 Disease Chromosome 18 pericentric inversion NCBI curation C1836305 609334 16 Feb 2016 Disease Chromosome 18, deletion 18q23 16 Feb 2016 Disease Chromosome 19 ring syndrome C0795869 16 Feb 2016 Disease Chromosome 19p13.13 deletion syndrome NCBI curation C3150894 613638 16 Feb 2016 Disease Chromosome 19p13.13 duplication syndrome NCBI curation 16 Feb 2016 Disease Chromosome 19q13.11 deletion syndrome C4311048 613026 16 Feb 2016 Disease Chromosome 19q13.11 deletion syndrome, proximal NCBI curation C4311046 617219 20 Jun 2017 Disease CHROMOSOME 1p35 DELETION SYNDROME OMIM C4693669 617930 617930 02 May 2018 Disease Chromosome 1p36 deletion syndrome NCBI curation C1842870 607872 16 Feb 2016 Disease CHROMOSOME 1p36.11 DUPLICATION SYNDROME CN253840 27 Sep 2018 Disease CHROMOSOME 1p36.33 DELETION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL RECESSIVE CN263389 25 Mar 2020 Disease CHROMOSOME 1p36.33 DUPLICATION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL DOMINANT OMIM CN263388 618815 618815 25 Mar 2020 Disease Chromosome 1q deletion CN072190 16 Feb 2016 Disease Chromosome 1q, duplication 1q12 q21 CN037147 16 Feb 2016 Disease Chromosome 1q21.1 duplication syndrome C2675891 612475 16 Feb 2016 Disease Chromosome 1q41-q42 deletion syndrome NCBI curation C2675857 612530 24 Aug 2016 Disease CHROMOSOME 1qter DELETION SYNDROME C2676727 16 Feb 2016 Disease Chromosome 2, duplication(2)(p13)(p21) CN036712 16 Feb 2016 Disease Chromosome 2, monosomy 2p22 CN035938 16 Feb 2016 Disease Chromosome 2, monosomy 2pter p24 CN036910 16 Feb 2016 Disease Chromosome 2, trisomy 2pter p24 CN036856 16 Feb 2016 Disease Chromosome 2, trisomy 2q37 CN035890 16 Feb 2016 Disease Chromosome 21, monosomy 21q22 CN036328 16 Feb 2016 Disease Chromosome 21, tetrasomy 21q C0795877 16 Feb 2016 Disease Chromosome 21, uniparental disomy of C2931324 16 Feb 2016 Disease Chromosome 22, monosome mosaic CN036765 16 Feb 2016 Disease Chromosome 22, trisomy q11 q13 CN036052 16 Feb 2016 Disease Chromosome 22q deletion CN072191 16 Feb 2016 Disease Chromosome 22q11.2 deletion syndrome, distal NCBI curation C2678480 611867 16 Feb 2016 Disease Chromosome 22q11.2 microduplication syndrome MONDO C2675369 MONDO:0012020 608363 22 Apr 2020 Disease Chromosome 22q13 duplication syndrome NCBI curation C3809844 615538 16 Feb 2016 Disease Chromosome 2p12-p11.2 deletion syndrome NCBI curation C3150804 613564 16 Feb 2016 Disease Chromosome 2p25.3 deletion syndrome NCBI curation CN232387 16 Feb 2016 Disease Chromosome 2p25.3 duplication syndrome NCBI curation CN232388 16 Feb 2016 Disease Chromosome 2q23.1 deletion syndrome NCBI curation C3277090 16 Feb 2016 Disease Chromosome 2q23.1 duplication syndrome NCBI curation CN221366 16 Feb 2016 Disease Chromosome 2q31.1 duplication syndrome NCBI curation C3150940 613681 16 Feb 2016 Disease Chromosome 2q31.2 deletion syndrome NCBI curation C2676724 612345 16 Feb 2016 Disease Chromosome 2q32-q33 deletion syndrome NCBI curation C2676739 612313 16 Feb 2016 Disease Chromosome 2q37 deletion syndrome NCBI curation C2931817 16 Feb 2016 Disease Chromosome 3 duplication syndrome C2931333 16 Feb 2016 Disease Chromosome 3, monosomy 3p NCBI curation C0795806 31 Dec 2019 Disease Chromosome 3, monosomy 3p14 p11 CN035838 16 Feb 2016 Disease Chromosome 3, monosomy 3q13 CN036884 16 Feb 2016 Disease Chromosome 3, monosomy 3q21 23 CN035881 16 Feb 2016 Disease Chromosome 3, monosomy 3q27 CN035750 16 Feb 2016 Disease Chromosome 3, trisomy 3p C0795807 16 Feb 2016 Disease Chromosome 3, trisomy 3p25 CN036841 16 Feb 2016 Disease Chromosome 3, trisomy 3q13 2 q25 CN036477 16 Feb 2016 Disease Chromosome 3pter-p25 deletion syndrome NCBI curation C2931337 613792 16 Feb 2016 Disease Chromosome 3q13.31 deletion syndrome NCBI curation C3809490 615433 16 Feb 2016 Disease Chromosome 3q29 microduplication syndrome C2749873 611936 16 Feb 2016 Disease Chromosome 4 short arm deletion C2931557 16 Feb 2016 Disease Chromosome 4, monosomy 4p14 p16 CN036837 16 Feb 2016 Disease Chromosome 4, monosomy 4q32 CN036742 16 Feb 2016 Disease Chromosome 4, monosomy distal 4q CN036218 16 Feb 2016 Disease Chromosome 4, partial trisomy distal 4q CN036010 16 Feb 2016 Disease Chromosome 4, Trisomy 4p C2931570 16 Feb 2016 Disease Chromosome 4, trisomy 4q21 CN036136 16 Feb 2016 Disease Chromosome 4, trisomy 4q25 qter CN036312 16 Feb 2016 Disease Chromosome 4q21 deletion syndrome NCBI curation C3150756 613509 16 Feb 2016 Disease Chromosome 4q32.1-q32.2 triplication syndrome NCBI curation C3150857 613603 16 Feb 2016 Disease Chromosome 5, trisomy 5p C2931575 16 Feb 2016 Disease Chromosome 5, trisomy 5pter p13 3 CN036376 16 Feb 2016 Disease Chromosome 5, uniparental disomy CN036636 16 Feb 2016 Disease Chromosome 5p13 duplication syndrome NCBI curation C2750805 613174 16 Feb 2016 Disease Chromosome 5q deletion syndrome MONDO C0740302 MONDO:0007925 153550 22 Apr 2020 Disease Chromosome 5q12 deletion syndrome NCBI curation C3810282 615668 16 Feb 2016 Disease Chromosome 5q14.3 deletion syndrome NCBI curation CN180641 16 Feb 2016 Disease Chromosome 5q14.3 deletion syndrome, distal NCBI curation C2752071 612881 24 Aug 2016 Disease Chromosome 5q14.3 deletion syndrome, proximal NCBI curation CN231321 16 Feb 2016 Disease Chromosome 6, deletion 6q13 q15 NCBI curation C2931605 16 Feb 2016 Disease Chromosome 6, monosomy 6p23 CN036702 16 Feb 2016 Disease Chromosome 6, monosomy 6q1 CN036965 16 Feb 2016 Disease Chromosome 6, monosomy 6q2 CN036671 16 Feb 2016 Disease Chromosome 6pter-p24 deletion syndrome NCBI curation C2675486 612582 16 Feb 2016 Disease Chromosome 6q11-q14 deletion syndrome NCBI curation C3150790 613544 24 Aug 2016 Disease Chromosome 6q13-q14 deletion syndrome NCBI curation 16 Feb 2016 Disease Chromosome 6q24-q25 deletion syndrome NCBI curation C3150215 612863 16 Feb 2016 Disease Chromosome 7, monosomy CN035932 16 Feb 2016 Disease Chromosome 7, monosomy 7q2 CN036652 16 Feb 2016 Disease Chromosome 7, monosomy 7q21 CN036779 16 Feb 2016 Disease Chromosome 7, monosomy 7q3 CN036296 16 Feb 2016 Disease Chromosome 7, partial monosomy 7p C2931626 16 Feb 2016 Disease Chromosome 7, trisomy 7p13 p12 2 CN036503 16 Feb 2016 Disease Chromosome 7q11.23 deletion syndrome, distal, 1.2-mb NCBI curation C3150999 613729 16 Feb 2016 Disease Chromosome 7q11.23 triplication syndrome NCBI curation 16 Feb 2016 Disease Chromosome 8 deletion 16 Feb 2016 Disease Chromosome 8, monosomy 8p C0795824 16 Feb 2016 Disease Chromosome 8, monosomy 8p2 C2931634 16 Feb 2016 Disease Chromosome 8, mosaic trisomy CN036248 16 Feb 2016 Disease Chromosome 8, partial trisomy CN036576 16 Feb 2016 Disease Chromosome 8-derived supernumerary ring/marker MONDO CN036129 MONDO:0015443 17 Apr 2020 Disease Chromosome 8p11 myeloproliferative syndrome NCBI curation C3150773 613523 16 Feb 2016 Disease Chromosome 8Q12.1-q21.2 deletion syndrome MONDO C1838346 MONDO:0010852 600257 22 Apr 2020 Disease Chromosome 8q21.11 deletion syndrome NCBI curation C3280231 614230 16 Feb 2016 Disease Chromosome 9 translocation CN036221 16 Feb 2016 Disease Chromosome 9, deletion 9q21.33q22.32 CN072194 16 Feb 2016 Disease Chromosome 9, duplication 9q21 CN037122 16 Feb 2016 Disease Chromosome 9, trisomy 9p CN072195 16 Feb 2016 Disease Chromosome 9, trisomy 9q C0795834 16 Feb 2016 Disease Chromosome 9, trisomy 9q32 CN036206 16 Feb 2016 Disease Chromosome 9p deletion syndrome MONDO C0795830 MONDO:0008013 158170 22 Apr 2020 Disease Chromosome 9q duplication CN072196 16 Feb 2016 Disease Chromosome breakage Human Phenotype Ontology C0376628 HP:0040012 02 Apr 2017 Finding Chromosome inversion MONDO MONDO:0043678 17 Apr 2020 Disease Chromosome X structural anomaly MONDO CN227750 MONDO:0020062 17 Apr 2020 Disease Chromosome Xp11.23-p11.22 duplication syndrome NCBI curation C2749022 300801 16 Feb 2016 Disease Chromosome Xp11.3 deletion syndrome NCBI curation C1845136 300578 16 Feb 2016 Disease Chromosome Xp21 deletion syndrome NCBI curation C0795887 300679 16 Feb 2016 Disease Chromosome Xq26 deletion syndrome NCBI curation 16 Feb 2016 Disease Chromosome Xq26.3 duplication syndrome NCBI curation C3891556 300942 16 Feb 2016 Disease Chromosome Xq27.3-q28 duplication syndrome NCBI curation C3275521 300869 16 Feb 2016 Disease Chromosome Xq28 deletion syndrome NCBI curation C3806634 300475 16 Feb 2016 Disease Chromosome Xq28 duplication syndrome NCBI curation C2749007 300815 16 Feb 2016 Disease Chromosome Y structural anomaly MONDO CN227749 MONDO:0020061 17 Apr 2020 Disease Chromosomes 1 and 2, monosomy 2q duplication 1p NCBI curation CN072197 31 Dec 2019 Disease Chronic acidosis Human Phenotype Ontology C1735903 HP:0012468 16 Feb 2016 Finding Chronic acquired demyelinating polyneuropathy MONDO CN229034 MONDO:0016169 17 Apr 2020 Disease Chronic active hepatitis Human Phenotype Ontology C0520463 HP:0200120 16 Feb 2016 Finding Chronic adenoiditis NCBI curation C0396023 12 Sep 2018 Disease chronic airway obstruction 14 Mar 2019 Finding chronic and active denervation consistent with motor neuropathy/neuronopathy 13 Feb 2020 Finding Chronic and progressive ataxia CN225416 16 Feb 2016 Disease Chronic apical periodontitis MONDO C0392492 MONDO:0001251 17 Apr 2020 Disease Chronic atrial and intestinal dysrhythmia NCBI curation C4015474 616201 16 Feb 2016 Disease Chronic atrophic gastritis Human Phenotype Ontology C0017154 HP:0002582 16 Feb 2016 Finding Chronic atticoantral disease MONDO C0155441 MONDO:0001921 17 Apr 2020 Disease Chronic axonal neuropathy Human Phenotype Ontology C4021578 HP:0007267 16 Feb 2016 Finding Chronic berylliosis 16 Feb 2016 Disease Chronic beryllium disease MONDO MONDO:0015274 17 Apr 2020 Disease Chronic bronchitis Human Phenotype Ontology C0008677 HP:0004469 16 Feb 2016 Finding chronic bronchorrhea CN239578 23 Dec 2016 Finding Chronic calcifying pancreatitis Human Phenotype Ontology C4025231 HP:0005236 16 Feb 2016 Finding Chronic canaliculitis MONDO C0155240 MONDO:0004924 04 Jun 2020 Infectious disease Chronic cervicitis MONDO C0269062 MONDO:0002030 17 Apr 2020 Disease Chronic childhood arthritis MONDO MONDO:0005185 17 Apr 2020 Disease Chronic cholangitis MONDO C0267918 MONDO:0004786 17 Apr 2020 Disease Chronic closed-angle glaucoma MONDO C0154947 MONDO:0001966 17 Apr 2020 Disease Chronic colitis Human Phenotype Ontology C0267375 HP:0100281 16 Feb 2016 Finding Chronic congestive splenomegaly MONDO C0398661 MONDO:0001367 17 Apr 2020 Disease Chronic conjunctivitis MONDO C0155145 MONDO:0002314 17 Apr 2020 Disease Chronic constipation Human Phenotype Ontology C0401149 HP:0012450 16 Feb 2016 Finding chronic cough CN239580 23 Dec 2016 Finding Chronic CSF lymphocytosis Human Phenotype Ontology C4024229 HP:0009704 16 Feb 2016 Finding Chronic cutaneous lupus erythematosus MONDO CN226705 MONDO:0015574 17 Apr 2020 Disease Chronic cystitis MONDO C0221763 MONDO:0006030 17 Apr 2020 Disease Chronic dacryoadenitis MONDO C0155224 MONDO:0004800 17 Apr 2020 Disease Chronic dacryocystitis MONDO C0149506 MONDO:0004925 17 Apr 2020 Disease Chronic demyelinizing neuropathy with IgM monoclonal 16 Feb 2016 Disease Chronic diarrhea Human Phenotype Ontology C0401151 HP:0002028 16 Feb 2016 Finding Chronic diarrhea due to glucoamylase deficiency MONDO C4275068 MONDO:0015169 17 Apr 2020 Disease Chronic disseminated intravascular coagulation Human Phenotype Ontology C1862184 HP:0005520 16 Feb 2016 Finding Chronic duodenal ileus MONDO C0156087 MONDO:0001775 17 Apr 2020 Disease Chronic endometritis MONDO C0238104 MONDO:0024279 17 Apr 2020 Disease Chronic endophthalmitis MONDO C0154774 MONDO:0017203 04 Jun 2020 Infectious disease Chronic enteropathy associated with SLCO2A1 gene MONDO C2247339 MONDO:0018766 17 Apr 2020 Disease Chronic eosinophilic pneumonia MONDO C0008680 MONDO:0004806 04 Jun 2020 Infectious disease Chronic erosive gastritis C0267145 16 Feb 2016 Disease Chronic erythremia MONDO MONDO:0001394 17 Apr 2020 Disease Chronic ethmoidal sinusitis MONDO C0008681 MONDO:0004757 17 Apr 2020 Disease Chronic eustachian salpingitis MONDO C0155430 MONDO:0002170 17 Apr 2020 Disease Chronic familial neutropenia NCBI curation C3665676 162700 16 Feb 2016 Disease Chronic fatigue Human Phenotype Ontology C0518656 HP:0012432 16 Feb 2016 Finding chronic fatigue syndrome with infection-triggered onset 13 Mar 2020 Disease Chronic follicular conjunctivitis MONDO C0155147 MONDO:0001685 17 Apr 2020 Disease Chronic frontal sinusitis MONDO C0008683 MONDO:0001120 17 Apr 2020 Disease Chronic fungal otitis externa MONDO C0155396 MONDO:0001052 04 Jun 2020 Infectious disease Chronic furunculosis Human Phenotype Ontology C4023521 HP:0011132 16 Feb 2016 Finding Chronic gastritis Human Phenotype Ontology C0085695 HP:0005231 16 Feb 2016 Finding Chronic gingivitis MONDO C0008684 MONDO:0020782 17 Apr 2020 Disease Chronic gonococcal salpingitis MONDO C0153208 MONDO:0001575 04 Jun 2020 Infectious disease Chronic gonorrhea of cervix MONDO C0153206 MONDO:0002029 04 Jun 2020 Infectious disease Chronic graft versus host disease MONDO C0867389 MONDO:0020547 17 Apr 2020 Disease Chronic granuloma and hemolytic anemia NCBI curation C4016535 16 Feb 2016 Disease Chronic granulomatous disease C0018203 16 Feb 2016 Disease Chronic granulomatous disease due to deficiency of NCF-1 CN259021 13 Jun 2019 Disease Chronic granulomatous disease due to deficiency of NCF-2 CN259022 13 Jun 2019 Disease Chronic granulomatous disease, atypical NCBI curation 16 Feb 2016 Disease Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1 NCBI curation C1856251 233700 16 Feb 2016 Disease Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 NCBI curation C1856245 233710 16 Feb 2016 Disease Chronic granulomatous disease, autosomal, due to deficiency of CYBA CN259023 13 Jun 2019 Disease Chronic granulomatous disease, X-linked NCBI curation C1844376 306400 16 Feb 2016 Disease Chronic hemolytic anemia Human Phenotype Ontology C1387532 HP:0004870 16 Feb 2016 Finding Chronic hepatic encephalopathy Human Phenotype Ontology C4024937 HP:0007111 16 Feb 2016 Finding Chronic hepatic failure Human Phenotype Ontology C2936476 HP:0100626 16 Feb 2016 Finding Chronic hepatic porphyria MONDO CN227691 MONDO:0019800 17 Apr 2020 Disease Chronic hepatitis Human Phenotype Ontology C0019189 HP:0200123 16 Feb 2016 Finding Chronic hepatitis B virus infection MONDO C0524909 MONDO:0005366 04 Jun 2020 Infectious disease Chronic hepatitis C virus infection MONDO CN281762 MONDO:0005354 04 Jun 2020 Infectious disease Chronic hepatitis due to cryptospridium infection Human Phenotype Ontology C3808820 HP:0200124 16 Feb 2016 Finding Chronic hiccup MONDO C0744898 MONDO:0018334 17 Apr 2020 Disease Chronic idiopathic urticaria MONDO C0578870 MONDO:0044212 17 Apr 2020 Disease Chronic infantile neurological, cutaneous and articular syndrome C0409818 607115 16 Feb 2016 Disease Chronic infection Human Phenotype Ontology C0151317 HP:0031035 04 Apr 2018 Finding Chronic infections, due to MBL deficiency CN259049 13 Jun 2019 Disease Chronic inflammation of lacrimal passage MONDO C0155239 MONDO:0004923 17 Apr 2020 Disease Chronic inflammatory demyelinating polyneuritis MONDO MONDO:0002335 17 Apr 2020 Disease Chronic inflammatory demyelinating polyradiculoneuropathy C0393819 16 Feb 2016 Disease Chronic intestinal candidiasis Human Phenotype Ontology C4025199 HP:0005411 16 Feb 2016 Finding Chronic intestinal failure MONDO C4274352 MONDO:0017418 17 Apr 2020 Disease Chronic intestinal pseudoobstruction Orphanet C0238062 ORPHA2978 16 Feb 2016 Disease Chronic intestinal vascular insufficiency MONDO C0311262 MONDO:0004622 17 Apr 2020 Disease Chronic irritative conjunctivitis Human Phenotype Ontology C4024810 HP:0007717 16 Feb 2016 Finding Chronic kidney disease Human Phenotype Ontology C1561643 HP:0012622 16 Feb 2016 Finding Chronic lacrimal gland enlargement MONDO C1300133 MONDO:0001588 17 Apr 2020 Disease Chronic lactic acidosis Human Phenotype Ontology C1839437 HP:0004925 16 Feb 2016 Finding Chronic laryngitis MONDO C0155836 MONDO:0001369 17 Apr 2020 Disease Chronic leukemia Human Phenotype Ontology C1279296 HP:0005558 16 Feb 2016 Finding Chronic lung disease Human Phenotype Ontology C0746102 HP:0006528 16 Feb 2016 Finding Chronic lymphocytic leukemia Human Phenotype Ontology C0023434 HP:0005550 151400 10 Apr 2018 Disease Chronic lymphocytic leukemia/small lymphocytic lymphoma MONDO C1302547 MONDO:0003864 17 Apr 2020 Disease Chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation MONDO C1333037 MONDO:0004152 17 Apr 2020 Disease Chronic lymphocytic meningitis Human Phenotype Ontology C0393441 HP:0007041 16 Feb 2016 Finding Chronic lymphoproliferative disorder of NK-cells MONDO C1512709 MONDO:0004234 17 Apr 2020 Disease Chronic maxillary sinusitis MONDO C0008698 MONDO:0001122 17 Apr 2020 Disease Chronic meningitis MONDO C0154653 MONDO:0001007 17 Apr 2020 Disease Chronic metabolic acidosis Human Phenotype Ontology C0740749 HP:0001996 16 Feb 2016 Finding Chronic metabolic polyneuropathy MONDO C1333042 MONDO:0004224 17 Apr 2020 Disease Chronic monilial nail infection Human Phenotype Ontology C4024683 HP:0008396 16 Feb 2016 Finding Chronic monocytic leukemia MONDO C0023466 MONDO:0004614 17 Apr 2020 Disease Chronic motor tics NCBI curation 16 Feb 2016 Disease Chronic mountain sickness, susceptibility to NCBI curation C0274294 616182 16 Feb 2016 Disease Chronic mucocutaneous candidiasis Human Phenotype Ontology C0006845 HP:0002728 16 Feb 2016 Disease Chronic multifocal osteomyelitis C0410422 259680 16 Feb 2016 Disease Chronic myelogenous leukemia, BCR-ABL1 positive MONDO C0023473 MONDO:0011996 608232 17 Apr 2020 Disease Chronic myeloid leukemia, resistant to imatinib NCBI curation 16 Feb 2016 Disease Chronic myelomonocytic leukemia Human Phenotype Ontology C0023480 HP:0012325 16 Feb 2016 Disease Chronic myeloproliferative disorders 16 Feb 2016 Disease Chronic necrotizing vasculitis 16 Feb 2016 Disease Chronic neutrophilic leukemia C0023481 16 Feb 2016 Disease Chronic non-suppurative otitis media MONDO C0395869 MONDO:0021206 17 Apr 2020 Disease Chronic noninfectious lymphadenopathy Human Phenotype Ontology C1858970 HP:0002730 16 Feb 2016 Finding Chronic obstructive airway disease from birth Human Phenotype Ontology C3550579 HP:0006541 16 Feb 2016 Finding Chronic obstructive pulmonary disease Human Phenotype Ontology C0024117 HP:0006510 606963 06 Jul 2018 Disease Chronic oral candidiasis Human Phenotype Ontology C4024599 HP:0009098 16 Feb 2016 Finding Chronic orbital inflammation MONDO C0155261 MONDO:0001849 17 Apr 2020 Disease Chronic osteomyelitis NCBI curation C0008707 08 Feb 2017 Disease Chronic otitis media Human Phenotype Ontology C0271441 HP:0000389 16 Feb 2016 Finding Chronic pain Human Phenotype Ontology C0150055 HP:0012532 16 Feb 2016 Finding Chronic pain syndrome MONDO C1298685 MONDO:0024317 17 Apr 2020 Disease Chronic pancreatitis Human Phenotype Ontology C0149521 HP:0006280 16 Feb 2016 Finding Chronic perichondritis of pinna MONDO C0155391 MONDO:0001917 04 Jun 2020 Infectious disease Chronic pneumonitis of infancy MONDO C3872848 MONDO:0019621 17 Apr 2020 Disease Chronic polyneuropathy MONDO C1167650 MONDO:0003335 17 Apr 2020 Disease Chronic polyradiculoneuritis 16 Feb 2016 Disease Chronic polyradiculoneuropathy MONDO CN229035 MONDO:0016170 17 Apr 2020 Disease Chronic progressive multiple sclerosis NCBI curation C0393665 16 Feb 2016 Disease Chronic prostatitis MONDO C0085696 MONDO:0022103 17 Apr 2020 Disease Chronic pulmonary heart disease MONDO C0238074 MONDO:0001493 17 Apr 2020 Disease Chronic purulent otitis media MONDO C0271454 MONDO:0001920 17 Apr 2020 Disease Chronic pyelonephritis MONDO C0085697 MONDO:0001110 04 Jun 2020 Infectious disease Chronic rapidly progressive glomerulonephritis MONDO MONDO:0001184 17 Apr 2020 Disease chronic recurrent pancreatitis NCBI curation C2074913 16 Feb 2016 Disease Chronic relapsing inflammatory optic neuropathy MONDO CN258566 MONDO:0044687 17 Apr 2020 Disease Chronic renal failure syndrome MONDO MONDO:0024327 17 Apr 2020 Disease Chronic respiratory acidosis Human Phenotype Ontology C0268048 HP:0012466 16 Feb 2016 Finding chronic respiratory clutter CN239579 23 Dec 2016 Finding chronic respiratory distress CN233201 16 Feb 2016 Finding Chronic respiratory distress with surfactant metabolism deficiency MONDO C5190853 MONDO:0016323 17 Apr 2020 Disease Chronic rheumatic pericarditis MONDO C0155561 MONDO:0002133 17 Apr 2020 Disease Chronic rhinitis Human Phenotype Ontology C0008711 HP:0002257 16 Feb 2016 Finding Chronic rhinitis due to narrow nasal airway Human Phenotype Ontology C4025318 HP:0004499 16 Feb 2016 Finding Chronic salpingitis MONDO C0269041 MONDO:0003617 17 Apr 2020 Disease Chronic salpingo-oophoritis MONDO C0156328 MONDO:0001474 17 Apr 2020 Disease Chronic sensorineural polyneuropathy Human Phenotype Ontology C4025794 HP:0001301 16 Feb 2016 Finding chronic severe immune thrombocytopenia CN280279 29 Jun 2017 Finding Chronic sinusitis Human Phenotype Ontology C0149516 HP:0011109 16 Feb 2016 Finding Chronic sphenoidal sinusitis MONDO C0008712 MONDO:0001123 17 Apr 2020 Disease Chronic subinvolution of uterus MONDO C0156370 MONDO:0001808 17 Apr 2020 Disease Chronic tic disorder MONDO C0008701 MONDO:0001074 17 Apr 2020 Disease Chronic toxic polyneuropathy MONDO C1333048 MONDO:0004372 17 Apr 2020 Disease Chronic tubotympanic suppurative otitis media MONDO C0155440 MONDO:0001964 17 Apr 2020 Disease Chronic tubulointerstitial nephritis Human Phenotype Ontology C0238304 HP:0004743 16 Feb 2016 Finding Chronic tympanitis MONDO C0395849 MONDO:0001227 17 Apr 2020 Disease Chronic ulcer of skin MONDO C0157738 MONDO:0004605 17 Apr 2020 Disease Chronic urinary tract infection C0262421 18 Jan 2019 Finding Chronic venous insufficiency MONDO C1306557 MONDO:0000492 17 Apr 2020 Disease Chronic wasting disease MONDO C1135993 MONDO:0002680 04 Jun 2020 Infectious disease Chudley-McCullough syndrome NCBI curation C1858695 604213 16 Feb 2016 Disease Chylocele of tunica vaginalis MONDO C0156315 MONDO:0001136 17 Apr 2020 Disease Chylolymphatic mesenteric cyst Human Phenotype Ontology C4072944 HP:0030452 16 Feb 2016 Finding Chylomicron retention disease C0795956 246700 16 Feb 2016 Disease Chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase NCBI curation C1861560 118830 16 Feb 2016 Disease Chylopericardium Human Phenotype Ontology C0242426 HP:0011852 16 Feb 2016 Finding Chylothorax Human Phenotype Ontology C0008733 HP:0010310 16 Feb 2016 Finding Chylous ascites Human Phenotype Ontology C0008732 HP:0012281 208300 16 Feb 2016 Disease Chédiak-Higashi syndrome C0007965 214500 16 Feb 2016 Disease CIC-DUX Sarcoma C3899764 25 Jan 2020 Disease Cicatricial ectropion MONDO C0155196 MONDO:0001582 17 Apr 2020 Disease Cicatricial entropion MONDO C0155191 MONDO:0001637 17 Apr 2020 Disease Cicatricial lagophthalmos Human Phenotype Ontology C0155199 HP:0030004 16 Feb 2016 Finding Cigarette-paper scars Human Phenotype Ontology C1851828 HP:0001073 16 Feb 2016 Finding Ciguatera fish poisoning 16 Feb 2016 Disease Ciliary body cancer MONDO C0496833 MONDO:0002969 17 Apr 2020 Disease Ciliary body coloboma Human Phenotype Ontology C4072884 HP:0020006 16 Feb 2016 Finding Ciliary body disease MONDO C0271100 MONDO:0002970 17 Apr 2020 Disease Ciliary body epithelioid cell melanoma MONDO C1333050 MONDO:0004086 17 Apr 2020 Disease Ciliary body melanoma Human Phenotype Ontology C0346379 HP:0012055 16 Feb 2016 Finding Ciliary body mixed cell melanoma MONDO C1333051 MONDO:0003911 17 Apr 2020 Disease Ciliary body neoplasm MONDO C0339349 MONDO:0021229 17 Apr 2020 Disease Ciliary body spindle cell melanoma MONDO C1333052 MONDO:0003746 17 Apr 2020 Disease Ciliary discoordination, due to random ciliary orientation 16 Feb 2016 Disease Ciliary dyskinesia with transposition of ciliary microtubules NCBI curation C2673817 215520 16 Feb 2016 Disease Ciliary dyskinesia, due to transposition of ciliary microtubules 16 Feb 2016 Disease Ciliary dyskinesia, primary, 10 NCBI curation C2675867 612518 16 Feb 2016 Disease Ciliary dyskinesia, primary, 11 NCBI curation C2675229 612649 16 Feb 2016 Disease Ciliary dyskinesia, primary, 12 NCBI curation C2675228 612650 16 Feb 2016 Disease Ciliary dyskinesia, primary, 13 NCBI curation C2750790 613193 16 Feb 2016 Disease Ciliary dyskinesia, primary, 14 NCBI curation C3151136 613807 16 Feb 2016 Disease Ciliary dyskinesia, primary, 15 NCBI curation C3151137 613808 16 Feb 2016 Disease Ciliary dyskinesia, primary, 16 NCBI curation C3151460 614017 16 Feb 2016 Disease Ciliary dyskinesia, primary, 17 NCBI curation C3542550 614679 16 Feb 2016 Disease Ciliary dyskinesia, primary, 18 NCBI curation C3543825 614874 16 Feb 2016 Disease Ciliary dyskinesia, primary, 19 NCBI curation C3543826 614935 16 Feb 2016 Disease Ciliary dyskinesia, primary, 2 NCBI curation C1847554 606763 16 Feb 2016 Disease Ciliary dyskinesia, primary, 20 NCBI curation C3540844 615067 16 Feb 2016 Disease Ciliary dyskinesia, primary, 21 NCBI curation C3809087 615294 16 Feb 2016 Disease Ciliary dyskinesia, primary, 22 NCBI curation C3809543 615444 16 Feb 2016 Disease Ciliary dyskinesia, primary, 26 NCBI curation C3809684 615500 16 Feb 2016 Disease Ciliary dyskinesia, primary, 27 NCBI curation C3809701 615504 16 Feb 2016 Disease Ciliary dyskinesia, primary, 28 NCBI curation C3809706 615505 16 Feb 2016 Disease Ciliary dyskinesia, primary, 29 NCBI curation C4014534 615872 16 Feb 2016 Disease Ciliary dyskinesia, primary, 3 NCBI curation C1837618 608644 16 Feb 2016 Disease Ciliary dyskinesia, primary, 30 NCBI curation C4015016 616037 16 Feb 2016 Disease Ciliary dyskinesia, primary, 32 NCBI curation C4225311 616481 16 Feb 2016 Disease Ciliary dyskinesia, primary, 33 NCBI curation C4225230 616726 16 Feb 2016 Disease Ciliary dyskinesia, primary, 34 NCBI curation C4310722 617091 20 Jun 2017 Disease Ciliary dyskinesia, primary, 35 NCBI curation C4310721 617092 20 Jun 2017 Disease Ciliary dyskinesia, primary, 36, X-linked NCBI curation C4478372 300991 20 Jun 2017 Disease Ciliary dyskinesia, primary, 37 NCBI curation C4539798 617577 28 Aug 2018 Disease Ciliary dyskinesia, primary, 38 NCBI curation C4748052 618063 28 Aug 2018 Disease CILIARY DYSKINESIA, PRIMARY, 39 OMIM C4748841 618254 618254 23 Dec 2018 Disease Ciliary dyskinesia, primary, 4 NCBI curation C1837616 608646 16 Feb 2016 Disease CILIARY DYSKINESIA, PRIMARY, 40 OMIM C4749028 618300 618300 31 Jan 2019 Disease CILIARY DYSKINESIA, PRIMARY, 41 OMIM C5193103 618449 618449 30 May 2019 Disease CILIARY DYSKINESIA, PRIMARY, 42 OMIM C5231464 618695 618695 15 Dec 2019 Disease CILIARY DYSKINESIA, PRIMARY, 43 OMIM C5231466 618699 618699 15 Dec 2019 Disease CILIARY DYSKINESIA, PRIMARY, 44 OMIM CN263303 618781 618781 26 Feb 2020 Disease CILIARY DYSKINESIA, PRIMARY, 45 OMIM CN263351 618801 618801 07 Mar 2020 Disease Ciliary dyskinesia, primary, 5 NCBI curation C1837615 608647 16 Feb 2016 Disease Ciliary dyskinesia, primary, 6 NCBI curation C1970506 610852 16 Feb 2016 Disease Ciliary dyskinesia, primary, 7 NCBI curation C2678473 611884 16 Feb 2016 Disease CILIARY DYSKINESIA, PRIMARY, 7, WITH SITUS INVERSUS 25 Mar 2018 Disease Ciliary dyskinesia, primary, 8 NCBI curation C2677085 612274 16 Feb 2016 Disease Ciliary dyskinesia, primary, 9 NCBI curation C2676235 612444 16 Feb 2016 Disease Ciliary dyskinesia-bronchiectasis 16 Feb 2016 Disease CILIARY NEUROTROPHIC FACTOR POLYMORPHISM 16 Feb 2016 Disease Ciliopathies CN580792 03 Nov 2017 Disease Ciliopathy Orphanet CN234683 ORPHA363250 16 Feb 2016 Disease Ciliophora infectious disease MONDO C0085308 MONDO:0005704 04 Jun 2020 Infectious disease Cilliers Beighton syndrome 16 Feb 2016 Disease Cinnamon odor, pleasantness of NCBI curation C1970178 611109 16 Feb 2016 Disease CIP1/WAF1 TUMOR-ASSOCIATED POLYMORPHISM 1 16 Feb 2016 Disease Circadian rhythm sleep disorder MONDO MONDO:0024361 17 Apr 2020 Disease Circadian rhythm sleep disorder, advanced sleep phase type MONDO MONDO:0024378 17 Apr 2020 Disease Circadian rhythm sleep disorder, irregular sleep wake type MONDO C0393771 MONDO:0024379 17 Apr 2020 Disease Circadian rhythm sleep disorder, jet lag type MONDO C0231311 MONDO:0024381 17 Apr 2020 Disease Circadian rhythm sleep disorder, shift work type MONDO MONDO:0024382 17 Apr 2020 Disease Circulating immune complexes Human Phenotype Ontology C3887628 HP:0012224 16 Feb 2016 Finding Circumlimbal hyperemia Human Phenotype Ontology C4476711 HP:0025338 02 Apr 2017 Finding Circumscribed cutaneous aplasia of the vertex 16 Feb 2016 Disease Circumscribed disseminated keratosis Jadassohn Lew type 16 Feb 2016 Disease Circumscribed palmoplantar hypokeratosis MONDO CN227569 MONDO:0019076 17 Apr 2020 Disease Circumungual hyperkeratosis Human Phenotype Ontology C4024681 HP:0008399 16 Feb 2016 Finding Circumvallate placenta syndrome NCBI curation C1859089 215550 16 Feb 2016 Disease Cirhosis with hepatomegaly 29 Aug 2018 Finding Cirrhosis due to liver phosphorylase kinase deficiency 21 Mar 2018 Disease Cirrhosis of liver MONDO C0023890 MONDO:0005155 17 Apr 2020 Disease cirrhosis of liver without mention of alcohol 14 Mar 2019 Finding Cirrhosis, cryptogenic NCBI curation C0267809 16 Feb 2016 Disease Cirrhosis, noncryptogenic, susceptibility to NCBI curation C1835713 16 Feb 2016 Disease Cirrhotic cardiomyopathy MONDO C4511053 MONDO:0018932 17 Apr 2020 Disease cisplatin response - Efficacy PharmGKB 655386657PA449014 06 Jul 2018 Pharmacological response cisplatin response - Efficacy, Toxicity/ADR PharmGKB CN236501 655386657 18 May 2016 Pharmacological response cisplatin response - Toxicity/ADR PharmGKB CN236502 655386612 18 May 2016 Pharmacological response Citalopram response NCBI curation CN221263 16 Feb 2016 Pharmacological response citalopram response - Efficacy PharmGKB CN236503 1183617724 18 May 2016 Pharmacological response citalopram response - Metabolism/PK PharmGKB CN236504 1043859080 18 May 2016 Pharmacological response Citrin deficiency NCBI curation C1997910 16 Feb 2016 Disease Citrulline transport defect C1859084 215720 16 Feb 2016 Disease Citrullinemia type I C4721769 215700 16 Feb 2016 Disease Citrullinemia type II C1863844 603471 16 Feb 2016 Disease Citrullinemia, mild NCBI curation C4016834 16 Feb 2016 Disease Civatte bodies Human Phenotype Ontology C0333440 HP:0025115 02 Apr 2017 Finding CK syndrome MONDO C3151781 MONDO:0010441 300831 22 Apr 2020 Disease Clark-Baraitser syndrome C4540324 617752 17 Apr 2020 Disease Class I obesity Human Phenotype Ontology C4476813 HP:0025499 04 Apr 2018 Finding Class II obesity Human Phenotype Ontology C1556380 HP:0025500 04 Apr 2018 Finding Class III obesity Human Phenotype Ontology C1556381 HP:0025501 04 Apr 2018 Finding Class V glucose-6-phosphate dehydrogenase deficiency MONDO C0272060 MONDO:0040671 17 Apr 2020 Disease Classic complement early component deficiency MONDO C1285186 MONDO:0000015 17 Apr 2020 Disease Classic congenital adrenal hyperplasia MONDO C4329672 MONDO:0060783 17 Apr 2020 Disease Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Orphanet C2936858 ORPHA90794 201910 18 Nov 2018 Disease Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form MONDO CN203816 MONDO:0017839 17 Apr 2020 Disease Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form MONDO CN203817 MONDO:0017840 17 Apr 2020 Disease Classic congenital lipoid adrenal hyperplasia due to STAR deficency MONDO CN204123 MONDO:0017972 17 Apr 2020 Disease Classic congenital mesoblastic nephroma MONDO C1516475 MONDO:0004455 17 Apr 2020 Disease Classic familial adenomatous polyposis 21 Aug 2018 Finding Classic Hodgkin lymphoma, lymphocyte-depleted type MONDO C0152267 MONDO:0020330 17 Apr 2020 Disease Classic Hodgkin lymphoma, lymphocyte-rich type MONDO C1266194 MONDO:0020329 17 Apr 2020 Disease Classic Hodgkin lymphoma, mixed cellularity type MONDO C0152266 MONDO:0020328 17 Apr 2020 Disease Classic Hodgkin lymphoma, nodular sclerosis type MONDO C0152268 MONDO:0020327 17 Apr 2020 Disease Classic homocystinuria MONDO C0751202 MONDO:0009352 236200 17 Apr 2020 Disease Classic mast cell leukemia MONDO C4757970 MONDO:0015560 17 Apr 2020 Disease Classic medulloblastoma MONDO C1707400 MONDO:0016712 17 Apr 2020 Disease classic molar tooth of Joubert syndrome in MRI 26 Oct 2019 Finding Classic multiminicore myopathy CN279271 05 Aug 2019 Disease Classic neuroendocrine tumor of appendix MONDO CN204231 MONDO:0018016 17 Apr 2020 Disease Classic or attenuated familial adenomatous polyposis MONDO MONDO:0021057 17 Apr 2020 Disease Classic organic aciduria MONDO CN229179 MONDO:0019215 17 Apr 2020 Disease Classic pantothenate kinase-associated neurodegeneration MONDO CN201109 MONDO:0016304 17 Apr 2020 Disease Classic paraneoplastic limbic encephalitis MONDO CN199962 MONDO:0015590 17 Apr 2020 Disease Classic pulmonary blastoma MONDO C1332556 MONDO:0003128 17 Apr 2020 Disease Classic stiff person syndrome MONDO CN237666 MONDO:0018625 17 Apr 2020 Disease Classic variant of chromophobe renal cell carcinoma MONDO C1333062 MONDO:0003941 17 Apr 2020 Disease Classical galactosemia, homozygous Duarte-type NCBI curation C0268152 16 Feb 2016 Disease Classical glioblastoma MONDO C3827253 MONDO:0000457 17 Apr 2020 Disease Classical maple syrup urine disease NCBI curation C0268568 16 Feb 2016 Disease Classical primary microcephaly CN228314 16 Feb 2016 Disease Classical swine fever MONDO C0019841 MONDO:0025087 04 Jun 2020 Infectious disease Claustrophobia Human Phenotype Ontology C0008909 HP:0025253 02 Apr 2017 Finding Clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia NCBI curation C1857942 605040 16 Feb 2016 Disease Clavicular sclerosis Human Phenotype Ontology C3554669 HP:0100923 16 Feb 2016 Finding Clayton-Smith Donnai syndrome 16 Feb 2016 Disease CLCN4-related disorder CN232948 16 Feb 2016 Disease CLCN4-related X-linked intellectual disability syndrome MONDO CN258470 MONDO:0044618 17 Apr 2020 Disease Clear cell acanthoma MONDO C0333992 MONDO:0002086 17 Apr 2020 Disease Clear cell adenocarcinoma MONDO C0206681 MONDO:0005004 17 Apr 2020 Disease Clear cell adenofibroma MONDO C0334317 MONDO:0003460 17 Apr 2020 Disease Clear cell carcinoma of kidney NCBI curation C0279702 16 Feb 2016 Disease Clear cell chondrosarcoma MONDO C1266167 MONDO:0003684 17 Apr 2020 Disease Clear cell cystadenofibroma MONDO C1377853 MONDO:0003693 17 Apr 2020 Disease Clear cell ependymoma MONDO MONDO:0003476 17 Apr 2020 Disease Clear cell hidradenoma MONDO C1370701 MONDO:0003447 17 Apr 2020 Disease Clear cell meningioma MONDO C0431121 MONDO:0002918 17 Apr 2020 Disease Clear cell papillary cystadenoma MONDO C1880102 MONDO:0006149 17 Apr 2020 Disease Clear cell papillary renal cell carcinoma MONDO C4518333 MONDO:0018448 17 Apr 2020 Disease Clear cell renal carcinoma MONDO MONDO:0005005 17 Apr 2020 Disease Clear cell sarcoma of kidney MONDO C0334488 MONDO:0005006 17 Apr 2020 Disease Clear cell squamous cell skin carcinoma MONDO C0345978 MONDO:0004523 17 Apr 2020 Disease Clear cell-sugar-tumor of the lung MONDO C1333065 MONDO:0003637 17 Apr 2020 Disease Cleft ala nasi Human Phenotype Ontology C1844537 HP:0003191 16 Feb 2016 Finding Cleft anterior mitral valve leaflet Human Phenotype Ontology C4023295 HP:0011569 16 Feb 2016 Finding Cleft at the superior portion of the pinna Human Phenotype Ontology C1865302 HP:0008537 16 Feb 2016 Finding Cleft chin MONDO C1849227 MONDO:0007331 119000 17 Apr 2020 Disease Cleft earlobe Human Phenotype Ontology C4023440 HP:0011265 16 Feb 2016 Finding Cleft eyelid Human Phenotype Ontology C0521573 HP:0000625 16 Feb 2016 Finding Cleft hand absent tibia C1861553 119100 16 Feb 2016 Disease Cleft hard palate Human Phenotype Ontology C0432090 HP:0410005 16 Feb 2016 Finding Cleft helix Human Phenotype Ontology C4021376 HP:0009902 16 Feb 2016 Finding Cleft in skull base Human Phenotype Ontology C1856027 HP:0009752 16 Feb 2016 Finding Cleft lip Human Phenotype Ontology C4321245 HP:0410030 12 Dec 2017 Finding Cleft lip (disease) MONDO MONDO:0004747 17 Apr 2020 Disease Cleft Lip +/- Cleft Palate, Autosomal Dominant CN239161 02 Dec 2016 Disease Cleft lip and alveolus MONDO C1298692 MONDO:0015420 17 Apr 2020 Disease cleft lip and palate 05 Sep 2019 Finding Cleft lip and palate malrotation cardiopathy 16 Feb 2016 Disease Cleft lip and/or palate 30 Mar 2018 Finding Cleft lip and/or palate with mucous cysts of lower 16 Feb 2016 Disease Cleft lip palate abnormal thumbs microcephaly 16 Feb 2016 Disease Cleft lip palate deafness sacral lipoma 16 Feb 2016 Disease Cleft lip palate dysmorphism Kumar type 16 Feb 2016 Disease Cleft lip palate incisor and finger anomalies 16 Feb 2016 Disease Cleft lip palate mental retardation corneal opacity 16 Feb 2016 Disease Cleft lip palate oligodontia syndactyly pili torti 16 Feb 2016 Disease Cleft lip palate pituitary deficiency 16 Feb 2016 Disease Cleft lip palate-tetraphocomelia 16 Feb 2016 Disease Cleft Lip with or without Cleft Palate CN277973 07 Apr 2020 Disease Cleft lip with or without cleft palate, nonsyndromic, 7 NCBI curation 16 Feb 2016 Disease Cleft lip with or without cleft palate, nonsyndromic, 8 NCBI curation 16 Feb 2016 Disease Cleft lip-retinopathy syndrome MONDO C2931789 MONDO:0016051 17 Apr 2020 Disease Cleft lip/palate C0158646 16 Feb 2016 Disease Cleft lip/palate with abnormal thumbs and microcephaly NCBI curation C0796099 216100 16 Feb 2016 Disease Cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease NCBI curation C2931750 601165 16 Feb 2016 Disease Cleft lip/palate-deafness-sacral lipoma syndrome MONDO CN200748 MONDO:0016059 17 Apr 2020 Disease Cleft lip/palate-ectodermal dysplasia syndrome NCBI curation C2931488 225060 13 Aug 2017 Disease Cleft lower alveolar ridge Human Phenotype Ontology C1849350 HP:0009094 16 Feb 2016 Finding Cleft lower lip Human Phenotype Ontology C1856026 HP:0010281 16 Feb 2016 Finding Cleft lower lip cleft lateral canthi chorioretinal 16 Feb 2016 Disease Cleft mandible Human Phenotype Ontology C0685786 HP:0010752 16 Feb 2016 Finding cleft mitral valve C0344772 05 Sep 2019 Finding cleft of alae nasi CN234766 16 Feb 2016 Finding Cleft of alveolar ridge of maxilla Human Phenotype Ontology C2919907 HP:0010289 04 Apr 2018 Finding Cleft of soft palate Human Phenotype Ontology C0432098 HP:0000185 119570 10 Apr 2018 Disease Cleft of uvula Human Phenotype Ontology C0266122 HP:0410032 04 Apr 2018 Finding Cleft palate Human Phenotype Ontology C2981150 HP:0000175 29 Feb 2016 Disease Cleft palate cardiac defect ectrodactyly 16 Feb 2016 Disease Cleft palate colobomata radial synostosis deafness 16 Feb 2016 Disease Cleft palate heart disease polydactyly absent tibia 16 Feb 2016 Disease Cleft palate short stature vertebral anomalies 16 Feb 2016 Disease Cleft palate with ankyloglossia NCBI curation C1844831 16 Feb 2016 Disease cleft palate with unilateral cleft lip 05 Sep 2019 Finding Cleft palate X-linked C1844830 303400 16 Feb 2016 Disease Cleft palate, cardiac defect, genital anomalies, and ectrodactyly NCBI curation C1838121 600460 16 Feb 2016 Disease Cleft palate, cardiac defects, and mental retardation NCBI curation C1832950 600987 20 Jun 2017 Disease Cleft palate, isolated NCBI curation C1837218 119540 16 Feb 2016 Disease Cleft palate, isolated, and mental retardation NCBI curation C1970095 16 Feb 2016 Disease Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss C1836120 609466 16 Feb 2016 Disease Cleft palate, psychomotor retardation, and distinctive facial features NCBI curation C4225229 616728 16 Feb 2016 Disease Cleft palate-large ears-small head syndrome MONDO C1867023 MONDO:0008402 181180 17 Apr 2020 Disease Cleft palate-lateral synechia syndrome C0795898 119550 16 Feb 2016 Disease Cleft palate-short stature-vertebral anomalies syndrome MONDO CN200784 MONDO:0016065 17 Apr 2020 Disease Cleft palate-stapes fixation-oligodontia syndrome MONDO C1859081 MONDO:0008993 216300 17 Apr 2020 Disease Cleft primary palate Human Phenotype Ontology C0432084 HP:0410003 16 Feb 2016 Finding Cleft secondary palate Human Phenotype Ontology CN225918 HP:0410004 16 Feb 2016 Finding Cleft tongue syndrome 16 Feb 2016 Disease Cleft upper lip Human Phenotype Ontology C0008924 HP:0000204 16 Feb 2016 Finding Cleft upper lip median cutaneous polyps 16 Feb 2016 Disease Cleft uvula Human Phenotype Ontology C4551488 HP:0000193 192100 10 Apr 2018 Disease Cleft vertebral arch Human Phenotype Ontology C1859458 HP:0004616 16 Feb 2016 Finding cleidocranial 05 Sep 2019 Finding Cleidocranial dysostosis C0008928 119600 16 Feb 2016 Disease Cleidocranial dysplasia and isolated cranial ossification defect MONDO CN227678 MONDO:0019709 17 Apr 2020 Disease Cleidocranial dysplasia, forme fruste NCBI curation C4016654 16 Feb 2016 Disease Cleidocranial dysplasia, forme fruste, dental anomalies only NCBI curation C1838416 16 Feb 2016 Disease Cleidocranial dysplasia, forme fruste, with brachydactyly NCBI curation C1861516 16 Feb 2016 Disease Cleidocranial dysplasia, recessive form MONDO C1859080 MONDO:0008994 216330 22 Apr 2020 Disease Cleidocranial dysplasia, severe, with osteoporosis and scoliosis NCBI curation C4016655 16 Feb 2016 Disease Cleidorhizomelic syndrome C1861515 119650 16 Feb 2016 Disease Clinical features observed in individuals 14 Jun 2018 Finding Clinical features observed in the individual 14 Jul 2017 Finding Clinical features observed in the individuals 21 May 2019 Finding Clinical features observed in these individuals 05 Sep 2017 Finding Clinical features observed in this indivdual 12 Jun 2019 Finding Clinical features observed in this individual CN314203 12 Jul 2017 Finding Clinical features observed in this individual: distal sensory neuropathy, neuropathic tremor, bilateral pyramidal signs, and MRI revealed lacunar infarct trigone. 24 Nov 2017 Finding Clinical features observed in this individual: macroglossia, macrosomia, ear creases. 13 Sep 2017 Finding clinical features of Costello Syndrome CN235276 19 Feb 2016 Finding Clinical features of skin fragility observed in this individual CN239808 29 Dec 2016 Finding Clinical manifestations of cardio-facio cutaneous syndrome CN235292 20 Feb 2016 Finding clino-symphalangism 10 Aug 2018 Disease Clinodactyly Human Phenotype Ontology C4551485 HP:0030084 16 Feb 2016 Finding clinodactyly fifth fingers 18 Aug 2017 Finding Clinodactyly of hallux Human Phenotype Ontology C4022488 HP:0040018 16 Feb 2016 Finding Clinodactyly of the 2nd finger Human Phenotype Ontology C4022486 HP:0040022 16 Feb 2016 Finding Clinodactyly of the 2nd toe Human Phenotype Ontology C4021620 HP:0005824 16 Feb 2016 Finding Clinodactyly of the 3rd finger Human Phenotype Ontology C4022485 HP:0040024 16 Feb 2016 Finding Clinodactyly of the 3rd toe Human Phenotype Ontology C4021555 HP:0008115 16 Feb 2016 Finding Clinodactyly of the 4th finger Human Phenotype Ontology C4022484 HP:0040025 16 Feb 2016 Finding Clinodactyly of the 4th toe Human Phenotype Ontology C4020740 HP:0011918 16 Feb 2016 Finding Clinodactyly of the 5th finger Human Phenotype Ontology C1850049 HP:0004209 16 Feb 2016 Finding Clinodactyly of the 5th toe Human Phenotype Ontology C4025741 HP:0001864 16 Feb 2016 Finding Clinodactyly of the thumb Human Phenotype Ontology C1856888 HP:0040023 16 Feb 2016 Finding ClinVar NCBI curation 10 Jul 2017 Disease CLIPPERS MONDO C3854437 MONDO:0017297 17 Apr 2020 Disease Clitoral carcinoma MONDO C1333070 MONDO:0024873 17 Apr 2020 Disease clitoral enlargement 19 Jan 2019 Finding Clitoral hypertrophy Human Phenotype Ontology C0156394 HP:0008665 16 Feb 2016 Finding Clitoral hypoplasia Human Phenotype Ontology C1844527 HP:0000060 16 Feb 2016 Finding Clitoris cancer MONDO C0153589 MONDO:0002290 17 Apr 2020 Disease Clitoris neoplasm MONDO C1263793 MONDO:0024877 17 Apr 2020 Disease Clitoromegaly CN207926 16 Feb 2016 Finding Clivus chondroid chordoma MONDO C1333072 MONDO:0003850 17 Apr 2020 Disease Clivus chordoma MONDO C1333071 MONDO:0003849 17 Apr 2020 Disease Clivus meningioma MONDO C1333073 MONDO:0003908 17 Apr 2020 Disease CLN13 Disease CN230078 16 Feb 2016 Disease CLN14 Disease CN230077 16 Feb 2016 Disease Cloacal abnormality Human Phenotype Ontology C4022816 HP:0012620 16 Feb 2016 Finding Cloacal exstrophy Human Phenotype Ontology C0345217 HP:0010475 16 Feb 2016 Disease Cloacal exstrophy (disease) MONDO C1850321 MONDO:0009774 258040 17 Apr 2020 Disease Cloacogenic carcinoma NCBI curation 16 Feb 2016 Disease Clobazam response NCBI curation CN456489 12 Sep 2017 Pharmacological response Clomipramine response NCBI curation CN221256 16 Feb 2016 Pharmacological response clomipramine response - Dosage, Toxicity/ADR PharmGKB CN236505 1183617220 18 May 2016 Pharmacological response clomipramine response - Efficacy PharmGKB CN236506 982038133 18 May 2016 Pharmacological response Clonorchiasis MONDO C0009021 MONDO:0005705 04 Jun 2020 Infectious disease Clonus Human Phenotype Ontology C0009024 HP:0002169 16 Feb 2016 Finding Clopidogrel response NCBI curation C2674941 16 Feb 2016 Pharmacological response clopidogrel response - Dosage, Efficacy, Toxicity/ADR PharmGKB CN236507 655386913 18 May 2016 Pharmacological response clopidogrel response - Efficacy PharmGKB CN236508 982028896 18 May 2016 Pharmacological response clopidogrel response - Efficacy, Toxicity/ADR PharmGKB CN236509 981201917 18 May 2016 Pharmacological response Closed comedo Human Phenotype Ontology C0302302 HP:0025250 02 Apr 2017 Finding Closed funnel shaped total retinal detachment CN232378 16 Feb 2016 Finding Closed iniencephaly MONDO C0431286 MONDO:0017061 17 Apr 2020 Disease Clostridium difficile 16 Feb 2016 Disease Clostridium difficile colitis MONDO C0238106 MONDO:0000705 04 Jun 2020 Infectious disease Clostridium infectious disease MONDO CN281881 MONDO:0024388 04 Jun 2020 Infectious disease Clostridium sordellii 16 Feb 2016 Disease Cloverleaf skull Human Phenotype Ontology C1860050 HP:0002676 16 Feb 2016 Finding Cloverleaf skull syndrome C0432126 148800 16 Feb 2016 Disease Cloverleaf skull-asphyxiating thoracic dysplasia syndrome MONDO C5190852 MONDO:0015086 17 Apr 2020 Disease Cloverleaf tongue NCBI curation 16 Feb 2016 Disease Clozapine response NCBI curation CN077971 16 Feb 2016 Pharmacological response clozapine response - Toxicity/ADR PharmGKB CN236510 1446898992 18 May 2016 Pharmacological response CLTC-Related Disorder 29 Aug 2019 Disease Club-shaped distal femur Human Phenotype Ontology C1857505 HP:0006384 16 Feb 2016 Finding Club-shaped proximal femur Human Phenotype Ontology C1968611 HP:0006406 16 Feb 2016 Finding Clubbing Human Phenotype Ontology C0149651 HP:0001217 16 Feb 2016 Finding Clubbing of fingers Human Phenotype Ontology C0009080 HP:0100759 16 Feb 2016 Finding Clubbing of toes Human Phenotype Ontology C3887489 HP:0100760 16 Feb 2016 Finding Clubfoot MONDO C0009081 MONDO:0007342 119800 17 Apr 2020 Disease Clubfoot Human Phenotype Ontology C0009081 HP:0001762 119800 17 Apr 2020 Disease Clumping of elastic fibers in the dermis Human Phenotype Ontology C4476630 HP:0025165 02 Apr 2017 Finding Clumsiness Human Phenotype Ontology C0233844 HP:0002312 16 Feb 2016 Finding Cluster headache Human Phenotype Ontology C0009088 HP:0012199 16 Feb 2016 Finding Cluster headache syndrome MONDO MONDO:0043537 17 Apr 2020 Disease Cluster headache, familial NCBI curation C1861513 119915 16 Feb 2016 Disease Clusters of axonal regeneration Human Phenotype Ontology C1843169 HP:0007233 16 Feb 2016 Finding Cluttering 16 Feb 2016 Disease Cm1 with syringomyelia NCBI curation 16 Feb 2016 Disease Cms ie NCBI curation 16 Feb 2016 Disease CMV antenatal infection 16 Feb 2016 Disease CN228314; C0424688; CN228308 16 Feb 2016 Finding CNGB3-Related Disorders CN239340 02 Dec 2016 Disease CNS and orofacial malformations including cleft lip and palate, micrognathia NCBI curation CN228808 16 Feb 2016 Finding CNS demyelinating autoimmune disease MONDO MONDO:0006704 17 Apr 2020 Disease CNS demyelination Human Phenotype Ontology C0338474 HP:0007305 16 Feb 2016 Finding CNS hypermyelination Human Phenotype Ontology C4022742 HP:0012754 16 Feb 2016 Finding CNS hypomyelination Human Phenotype Ontology C4025616 HP:0003429 16 Feb 2016 Finding CNS infection Human Phenotype Ontology C4759823 HP:0011450 16 Feb 2016 Infectious disease CNTNAP1-related disease 21 Dec 2019 Disease coagulation defects 14 Mar 2019 Finding Coagulation factor deficiency syndrome C0272315 08 May 2019 Disease Coagulation protein disease MONDO C0600503 MONDO:0002242 17 Apr 2020 Disease Coalescence of tarsal bones Human Phenotype Ontology C4025130 HP:0005802 16 Feb 2016 Finding Coarctation in the transverse aortic arch Human Phenotype Ontology C4476934 HP:0031053 04 Apr 2018 Finding Coarctation of abdominal aorta Human Phenotype Ontology C4025263 HP:0004974 16 Feb 2016 Finding Coarctation of aorta C0003492 120000 16 Feb 2016 Disease Coarctation of aorta dominant 16 Feb 2016 Disease Coarctation of the descending aortic arch Human Phenotype Ontology C4022958 HP:0012305 16 Feb 2016 Finding Coarse face hypotonia constipation 16 Feb 2016 Disease Coarse facial features Human Phenotype Ontology C1845847 HP:0000280 16 Feb 2016 Finding coarse facial features, macroglossia, failure to thrive, redundant skin on plams, atrial tachycardia CN235274 19 Feb 2016 Finding Coarse features C0424492 19 Feb 2016 Finding Coarse hair Human Phenotype Ontology C0277959 HP:0002208 16 Feb 2016 Finding Coarse humeral trabeculae Human Phenotype Ontology C4025544 HP:0003866 02 Apr 2017 Finding Coarsened hepatic echotexture Human Phenotype Ontology C4477003 HP:0031144 04 Apr 2018 Finding Coat hanger sign of ribs Human Phenotype Ontology C4025010 HP:0006665 16 Feb 2016 Finding Coated aorta Human Phenotype Ontology C4476810 HP:0025494 04 Apr 2018 Finding Cobalamin deficiency NCBI curation C0042847 16 Feb 2016 Disease Cobb syndrome MONDO C0346068 MONDO:0018893 17 Apr 2020 Disease Cobblestone retinal degeneration MONDO C0154854 MONDO:0001456 17 Apr 2020 Disease Cobblestone-like hyperkeratosis Human Phenotype Ontology C4531224 HP:0031288 04 Apr 2018 Finding Cocaine abuse MONDO C0009171 MONDO:0004456 17 Apr 2020 Disease Cocaine dependence MONDO C0600427 MONDO:0005186 17 Apr 2020 Disease Cocaine embryofetopathy MONDO C0432371 MONDO:0016007 17 Apr 2020 Disease Cocaine intoxication MONDO C0009176 MONDO:0019544 17 Apr 2020 Disease cocaine response - Toxicity/ADR PharmGKB CN240597 1447963234 17 Feb 2017 Pharmacological response Cocaine-Related Disorders PharmGKB CN240612 17 Feb 2017 Disease Coccidioidomycosis C0009186 16 Feb 2016 Infectious disease Coccygodynia 16 Feb 2016 Disease Cochlear aplasia Human Phenotype Ontology C4023390 HP:0011375 16 Feb 2016 Finding Cochlear degeneration Human Phenotype Ontology C1849095 HP:0005102 16 Feb 2016 Finding Cochlear disease MONDO C0009197 MONDO:0003452 17 Apr 2020 Disease cochlear hypoplasia 05 Sep 2019 Finding Cochlear malformation Human Phenotype Ontology C1862050 HP:0008554 16 Feb 2016 Finding Cochleosaccular degeneration NCBI curation 16 Feb 2016 Disease Cochleosaccular degeneration-cataract syndrome MONDO C1861512 MONDO:0007346 120040 17 Apr 2020 Disease Cochleovestibular dysplasia MONDO CN258754 MONDO:0044709 17 Apr 2020 Disease Cockayne syndrome C0009207 16 Feb 2016 Disease Cockayne syndrome B NCBI curation C0751038 133540 20 May 2016 Disease Cockayne syndrome type A NCBI curation C0751039 216400 16 Feb 2016 Disease Cockayne syndrome type II C2931277 16 Feb 2016 Disease Cockayne syndrome, type III NCBI curation C0751037 24 Aug 2016 Disease Cocoon syndrome NCBI curation C3150891 613630 16 Feb 2016 Disease CODAS syndrome C1838180 600373 16 Feb 2016 Disease Codeine response NCBI curation C1837160 16 Feb 2016 Pharmacological response CODON 72 POLYMORPHISM 02 Nov 2018 Disease Coenurosis MONDO C0009225 MONDO:0000293 04 Jun 2020 Infectious disease Coenzyme Q10 deficiency, Oculomotor Apraxia Type CN239212 02 Dec 2016 Disease Coenzyme Q10 deficiency, primary OMIM phenotypic series C1843920 PS607426 16 Feb 2016 Disease Coenzyme Q10 deficiency, primary 1 NCBI curation C3551954 607426 16 Feb 2016 Disease Coenzyme Q10 deficiency, primary, 2 NCBI curation C3553354 614651 16 Feb 2016 Disease Coenzyme Q10 deficiency, primary, 3 NCBI curation C3553358 614652 16 Feb 2016 Disease Coenzyme Q10 deficiency, primary, 4 NCBI curation C2677589 612016 16 Feb 2016 Disease Coenzyme Q10 deficiency, primary, 5 NCBI curation C3553374 614654 16 Feb 2016 Disease Coenzyme Q10 deficiency, primary, 6 NCBI curation C3553349 614650 16 Feb 2016 Disease Coenzyme Q10 deficiency, primary, 7 NCBI curation C4225392 616276 16 Feb 2016 Disease Coenzyme Q10 deficiency, primary, 8 NCBI curation C4225226 616733 16 Feb 2016 Disease Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type CN239204 02 Dec 2016 Disease Coffin Siris/Intellectual Disability CN185481 16 Feb 2016 Disease Coffin syndrome 1 C0795900 16 Feb 2016 Disease Coffin-Lowry syndrome C0265252 303600 16 Feb 2016 Disease Coffin-Siris syndrome OMIM phenotypic series C0265338 PS135900 22 Sep 2016 Disease Coffin-Siris syndrome 1 NCBI curation C3281201 135900 22 Sep 2016 Disease COFFIN-SIRIS SYNDROME 10 OMIM C4760583 618506 618506 18 Jul 2019 Disease COFFIN-SIRIS SYNDROME 11 OMIM CN263286 618779 618779 21 Feb 2020 Disease Coffin-Siris syndrome 5 NCBI curation C4310788 616938 22 Sep 2016 Disease COFFIN-SIRIS SYNDROME 6 OMIM C4540499 617808 617808 15 Dec 2017 Disease COFFIN-SIRIS SYNDROME 7 OMIM C4747954 618027 618027 30 Jun 2018 Disease COFFIN-SIRIS SYNDROME 8 OMIM C5193054 618362 618362 21 Mar 2019 Disease COFS syndrome MONDO CN239231 MONDO:0008926 27 May 2020 Disease COG1 congenital disorder of glycosylation NCBI curation C2931011 611209 25 Dec 2017 Disease COG4 related congenital disorder of glycosylation, autosomal dominant 27 Apr 2018 Finding COG6-related disorder 21 Dec 2019 Disease COG7 congenital disorder of glycosylation NCBI curation C2931010 608779 25 Dec 2017 Disease Cogan's syndrome C0543874 257550 16 Feb 2016 Disease Cogan-Reese syndrome C1168173 16 Feb 2016 Disease Cognitive delays CN235481 11 Mar 2016 Finding cognitive developmental delay 05 Sep 2019 Finding Cognitive disorder C0009241 18 Jan 2019 Finding Cognitive function 1, social NCBI curation C1848140 300082 16 Feb 2016 Disease Cognitive impairment NCBI curation C0338656 16 Feb 2016 Disease Cognitive impairment with or without cerebellar ataxia NCBI curation C3280415 614306 16 Feb 2016 Disease COGNITIVE IMPAIRMENT WITHOUT CEREBELLAR ATAXIA 31 Mar 2019 Disease Cogwheel rigidity Human Phenotype Ontology C0151564 HP:0002396 16 Feb 2016 Finding Cohen Hayden syndrome 16 Feb 2016 Disease Cohen Lockood Wyborney syndrome 16 Feb 2016 Disease Cohen syndrome NCBI curation C0265223 216550 30 Jun 2016 Disease Cohen-Gibson syndrome NCBI curation C4479654 617561 30 Jul 2017 Disease COL11A1-Related Disorders 23 May 2019 Disease COL11A2- Related Disorder 29 Aug 2019 Disease COL11A2-Related Disorders 23 May 2019 Disease COL1A2-Related Disorder 13 Oct 2017 Disease COL1A2-Related Disorders 23 May 2019 Disease COL2A1-Related Disorder 11 Oct 2018 Disease COL2A1-related disorders 21 May 2020 Disease COL2A1-related phenotype 21 Dec 2019 Disease COL2A1-related skeletal dysplasia 18 Oct 2019 Disease COL3A1-Related Disorder 29 Aug 2019 Disease COL4A1 or COL4A2-related cerebral small vessel disease MONDO CN776854 MONDO:0018788 17 Apr 2020 Disease COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy MONDO CN776855 MONDO:0018790 17 Apr 2020 Disease COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy MONDO CN776856 MONDO:0018789 17 Apr 2020 Disease COL4A1-Related Disorder 13 Oct 2017 Disease COL4A3-Related Disorders 23 May 2019 Disease COL6A1-related Disorder 13 Oct 2017 Disease COL6A2-related disorder 07 Dec 2018 Disease COL6A3-related phenotype 21 Dec 2019 Disease COL6A5 POLYMORPHISM 29 May 2020 Disease COL7A1-related disorders 21 Dec 2019 Disease COL9A1-Related Disorders 23 May 2019 Disease COL9A2-Related Disorders 23 May 2019 Disease Colchicine poisoning MONDO MONDO:0017859 17 Apr 2020 Disease Colchicine resistance NCBI curation C1861502 120080 16 Feb 2016 Pharmacological response Cold agglutinin disease C1264008 16 Feb 2016 Disease Cold contact urticaria 16 Feb 2016 Disease Cold paresis Human Phenotype Ontology C4531172 HP:0031372 04 Apr 2018 Finding Cold-induced hand cramps Human Phenotype Ontology C1832279 HP:0003435 16 Feb 2016 Finding Cold-induced hemolysis Human Phenotype Ontology C4531091 HP:0031484 04 Apr 2018 Finding Cold-induced muscle cramps Human Phenotype Ontology C1861675 HP:0003449 16 Feb 2016 Finding Cold-induced sweating Human Phenotype Ontology C4476686 HP:0025278 02 Apr 2017 Finding Cold-induced sweating syndrome OMIM phenotypic series C1832409 PS272430 16 Feb 2016 Disease Cold-induced sweating syndrome - hyperthermia spectrum MONDO CN226150 MONDO:0018431 17 Apr 2020 Disease Cold-induced sweating syndrome 1 NCBI curation C1848947 272430 16 Feb 2016 Disease Cold-induced sweating syndrome 2 NCBI curation C1853198 610313 16 Feb 2016 Disease Cold-sensitive myotonia Human Phenotype Ontology C4022682 HP:0012904 16 Feb 2016 Finding Cole disease NCBI curation C3809781 615522 16 Feb 2016 Disease Cole-Carpenter syndrome OMIM phenotypic series C1862178 PS112240 22 Sep 2016 Disease Cole-Carpenter syndrome 1 OMIM C4317154 112240 112240 22 Sep 2016 Disease Cole-Carpenter syndrome 2 NCBI curation C4225382 616294 22 Sep 2016 Disease Coleman Randall syndrome 16 Feb 2016 Disease COLIPASE, CONGENITAL ABSENCE OF PANCREATIC 16 Feb 2016 Disease Colitis Human Phenotype Ontology C0009319 HP:0002583 16 Feb 2016 Finding Collagen IV-related nephropathies NCBI curation CN076135 16 Feb 2016 Disease Collagen type III glomerulopathy MONDO C3872695 MONDO:0019396 17 Apr 2020 Disease COLLAGEN TYPE III POLYMORPHISM 16 Feb 2016 Disease Collagen Type VI-Related Autosomal Dominant Limb-girdle Muscular Dystrophy CN230143 16 Feb 2016 Disease Collagen VI-related myopathy NCBI curation CN117976 16 Feb 2016 Disease Collagenopathy MONDO MONDO:0004603 17 Apr 2020 Disease Collagenopathy type 2 alpha 1 C2931073 16 Feb 2016 Disease Collagenosis, familial reactive perforating NCBI curation C1857624 216700 16 Feb 2016 Disease Collagenous colitis C0238067 16 Feb 2016 Disease Collagenous gastritis MONDO C4040043 MONDO:0043355 17 Apr 2020 Disease Collagenous sprue MONDO C0341299 MONDO:0044092 17 Apr 2020 Disease Collapse (finding) C0344329 16 Feb 2016 Finding Collecting duct carcinoma C1266044 16 Feb 2016 Disease Collectionism Human Phenotype Ontology C0424290 HP:0030212 16 Feb 2016 Finding Collins Pope syndrome 16 Feb 2016 Disease Collins-Sakati syndrome MONDO MONDO:0022802 22 Apr 2020 Disease Colloid carcinoma of the pancreas MONDO C1333081 MONDO:0004341 17 Apr 2020 Disease Colloid cyst of third ventricle C0266481 609363 16 Feb 2016 Disease Coloboma chorioretinal cerebellar vermis aplasia 16 Feb 2016 Disease Coloboma hair abnormality 16 Feb 2016 Disease Coloboma of choroid and retina C4708599 16 Feb 2016 Disease Coloboma of iris 16 Feb 2016 Disease Coloboma of lens ala nasi 16 Feb 2016 Disease Coloboma of macula MONDO C1852767 MONDO:0007351 120300 17 Apr 2020 Disease Coloboma of macula and skeletal anomalies NCBI curation C1857619 216800 16 Feb 2016 Disease Coloboma of macula-brachydactyly type B syndrome MONDO C1852752 MONDO:0007353 120400 17 Apr 2020 Disease Coloboma of optic disc NCBI curation C0155299 120430 16 Feb 2016 Disease Coloboma of optic papilla 16 Feb 2016 Disease Coloboma porencephaly hydronephrosis 16 Feb 2016 Disease Coloboma, cleft lip/palate and mental retardation syndrome 16 Feb 2016 Disease Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome CN239148 02 Dec 2016 Disease Coloboma, ocular, autosomal dominant NCBI curation CN263371 120200 18 Mar 2020 Disease Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation NCBI curation C3805432 120433 24 Aug 2016 Disease Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness NCBI curation C4310625 617306 20 Jun 2017 Disease Coloboma-obesity-hypogenitalism-mental retardation syndrome NCBI curation C1866256 601794 16 Feb 2016 Disease Colobomata unilobar lung heart defect 16 Feb 2016 Disease Colobomatous and areolar dystrophy MONDO MONDO:0020243 17 Apr 2020 Disease Colobomatous microphthalmia C4255043 16 Feb 2016 Finding Colobomatous microphthalmia heart disease hearing 16 Feb 2016 Disease Colobomatous microphthalmia, corpus callosum hypoplasia, heart defect CN235150 16 Feb 2016 Finding Colobomatous microphthalmia, IUGR, partial corpus callosum agenesis, Kyphosis, psychomotor delay CN235141 16 Feb 2016 Finding Colobomatous microphthalmia, Pyriform sinus stenosis, single central incisor CN235153 16 Feb 2016 Finding Colobomatous microphthalmia, short stature, Left duplicated pyelocaliceal system, Psychomotor delay CN235154 16 Feb 2016 Finding Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome MONDO C4225424 MONDO:0008927 212550 17 Apr 2020 Disease Colon adenocarcinoma MONDO C0338106 MONDO:0002271 17 Apr 2020 Disease Colon Burkitt lymphoma MONDO C1333083 MONDO:0006150 17 Apr 2020 Disease Colon cancer Human Phenotype Ontology C0007102 HP:0003003 16 Feb 2016 Finding Colon cancer with loss of MSH2 and MSH6 on IHC CN262505 22 Jun 2017 Finding Colon cancer, advanced NCBI curation C4016406 16 Feb 2016 Disease COLON CANCER, SUSCEPTIBILITY TO C4016820 29 Aug 2019 Disease Colon cancer, susceptibility to NCBI curation 16 Feb 2016 Disease Colon carcinoma in situ MONDO C0154061 MONDO:0004663 17 Apr 2020 Disease Colon dysplasia MONDO C1302363 MONDO:0006151 17 Apr 2020 Disease Colon inflammatory polyp MONDO C0267392 MONDO:0006152 17 Apr 2020 Disease Colon juvenile polyp MONDO C1333090 MONDO:0006153 17 Apr 2020 Disease Colon Kaposi sarcoma MONDO C1333091 MONDO:0003997 17 Apr 2020 Disease Colon leiomyoma MONDO C1333092 MONDO:0001092 17 Apr 2020 Disease Colon leiomyosarcoma MONDO C1333093 MONDO:0003351 17 Apr 2020 Disease Colon lymphoma MONDO C0519037 MONDO:0002035 17 Apr 2020 Disease Colon medullary carcinoma MONDO C1880119 MONDO:0000892 17 Apr 2020 Disease Colon mucinous adenocarcinoma MONDO C0279639 MONDO:0005007 17 Apr 2020 Disease Colon mucosa-associated lymphoid tissue lymphoma MONDO C1333096 MONDO:0006154 17 Apr 2020 Disease Colon neuroendocrine neoplasm MONDO C1333097 MONDO:0002882 17 Apr 2020 Disease Colon neuroendocrine tumor G1 MONDO C1333084 MONDO:0006155 17 Apr 2020 Disease Colon perforation Human Phenotype Ontology C0347646 HP:0031369 04 Apr 2018 Finding Colon polyps C0009376 01 Jun 2017 Finding Colon sarcoma MONDO C1333098 MONDO:0003352 17 Apr 2020 Disease Colon Serrated Polyposis C3272797 16 Feb 2016 Disease Colon sessile serrated adenoma/polyp MONDO C3272791 MONDO:0006156 17 Apr 2020 Disease Colon signet ring cell adenocarcinoma MONDO C1707436 MONDO:0002495 17 Apr 2020 Disease Colon small cell neuroendocrine carcinoma MONDO C1333099 MONDO:0003978 17 Apr 2020 Disease Colonic adenoma recurrence, reduced risk of NCBI curation C4016302 16 Feb 2016 Disease Colonic arteriovenous malformation Human Phenotype Ontology C2062349 HP:0031345 04 Apr 2018 Finding Colonic disease MONDO C0009373 MONDO:0003409 17 Apr 2020 Disease Colonic diverticula Human Phenotype Ontology C0012819 HP:0002253 16 Feb 2016 Finding Colonic inertia Human Phenotype Ontology C1257861 HP:0012423 16 Feb 2016 Finding Colonic L-cell glucagon-like peptide producing tumor MONDO C3274139 MONDO:0004210 17 Apr 2020 Disease Colonic lymphangioma MONDO C1333094 MONDO:0001093 17 Apr 2020 Disease Colonic malakoplakia 16 Feb 2016 Disease Colonic neoplasm MONDO C0009375 MONDO:0005401 17 Apr 2020 Disease Colonic pseudo-obstruction MONDO C0009377 MONDO:0002801 17 Apr 2020 Disease Colonic stenosis Human Phenotype Ontology C0267466 HP:0012851 16 Feb 2016 Finding Colonic varices Human Phenotype Ontology C4022853 HP:0012550 16 Feb 2016 Finding Colonic varices without portal hypertension NCBI curation C1852721 120440 16 Feb 2016 Disease Color agnosia MONDO MONDO:0000669 17 Apr 2020 Disease Color vision disorder MONDO CN207064 MONDO:0001703 17 Apr 2020 Disease Color vision test abnormality Human Phenotype Ontology C4073057 HP:0030584 16 Feb 2016 Finding Colorado tick fever MONDO C0009400 MONDO:0005708 04 Jun 2020 Infectious disease Colorblindness, partial MONDO MONDO:0000014 17 Apr 2020 Disease Colorectal / endometrial cancer CN221548 16 Feb 2016 Disease Colorectal adenoma C1302401 16 Feb 2016 Disease Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas NCBI curation 16 Feb 2016 Disease Colorectal adenosquamous carcinoma MONDO C1707437 MONDO:0006157 17 Apr 2020 Disease COLORECTAL CANCER NCBI curation CN280943 22 May 2020 Disease Colorectal cancer NCBI curation C1527249 114500 16 Feb 2016 Disease Colorectal cancer 1 NCBI curation C1837315 608812 16 Feb 2016 Disease Colorectal cancer 10 NCBI curation C2675481 612591 16 Feb 2016 Disease Colorectal cancer 11 NCBI curation C2675480 612592 16 Feb 2016 Disease Colorectal cancer 2 NCBI curation C1969113 611469 16 Feb 2016 Disease Colorectal cancer 3 NCBI curation C2677123 612229 16 Feb 2016 Disease Colorectal cancer 4 NCBI curation C2677290 16 Feb 2016 Disease Colorectal cancer 5 NCBI curation C2677122 612230 16 Feb 2016 Disease Colorectal cancer 6 NCBI curation C2677121 612231 16 Feb 2016 Disease Colorectal cancer 7 NCBI curation C2677120 612232 16 Feb 2016 Disease Colorectal cancer 8 NCBI curation C2675483 612589 16 Feb 2016 Disease Colorectal cancer 9 NCBI curation C2675482 612590 16 Feb 2016 Disease Colorectal cancer with chromosomal instability NCBI curation 16 Feb 2016 Disease Colorectal cancer, childhood 16 Feb 2016 Disease Colorectal cancer, early onset C3554772 16 Feb 2016 Disease Colorectal cancer, increased risk, assoc. with CN231065 16 Feb 2016 Disease Colorectal cancer, non-polyposis CN221576 16 Feb 2016 Disease Colorectal cancer, protection against NCBI curation C3149111 29 Oct 2017 Disease Colorectal cancer, sporadic, susceptibility to NCBI curation 16 Feb 2016 Disease Colorectal cancer, susceptibility to NCBI curation C1858438 16 Feb 2016 Disease Colorectal cancer, susceptibility to, 12 NCBI curation C3554460 615083 16 Feb 2016 Disease Colorectal cancer, susceptibility to, on chromosome 15 NCBI curation 16 Feb 2016 Disease Colorectal carcinoma MONDO MONDO:0024331 17 Apr 2020 Disease Colorectal diffuse large B-cell lymphoma MONDO C3272827 MONDO:0006158 17 Apr 2020 Disease Colorectal gastrointestinal stromal tumor MONDO C1333109 MONDO:0006159 17 Apr 2020 Disease Colorectal hamartoma MONDO C3272801 MONDO:0006160 17 Apr 2020 Disease Colorectal juvenile polyp MONDO C1377708 MONDO:0006161 17 Apr 2020 Disease Colorectal Kaposi sarcoma MONDO C3272833 MONDO:0024659 17 Apr 2020 Disease Colorectal leiomyoma MONDO C1333113 MONDO:0003299 17 Apr 2020 Disease Colorectal lipoma MONDO C1333114 MONDO:0003885 17 Apr 2020 Disease Colorectal lymphoma MONDO C3272822 MONDO:0024656 17 Apr 2020 Disease Colorectal neoplasm MONDO MONDO:0005335 17 Apr 2020 Disease Colorectal Neoplasms;Rectal Neoplasms PharmGKB 17 Feb 2017 Disease Colorectal neuroendocrine tumor G1 MONDO C3272611 MONDO:0006162 17 Apr 2020 Disease Colorectal polyposis Human Phenotype Ontology C0949059 HP:0200063 16 Feb 2016 Finding Colorectal serrated adenocarcinoma MONDO C3272809 MONDO:0006163 17 Apr 2020 Disease Colorectal sessile serrated adenoma/polyp MONDO C2826783 MONDO:0006164 17 Apr 2020 Disease Colorectal signet ring cell carcinoma MONDO C1707440 MONDO:0044336 17 Apr 2020 Disease Colorectal squamous cell carcinoma MONDO C1707442 MONDO:0006165 17 Apr 2020 Disease Colorectal tubulovillous adenoma MONDO C1333118 MONDO:0024662 17 Apr 2020 Disease Colorectal tumor with loss of MLH1 and PMS2 on IHC CN262506 22 Jun 2017 Finding Colostrum secretion NCBI curation C3149149 16 Feb 2016 Disease Colpocephaly Human Phenotype Ontology C0431384 HP:0030048 16 Feb 2016 Disease COLTON BLOOD GROUP POLYMORPHISM NCBI curation 16 Feb 2016 Blood group Colton Blood group system NCBI curation C1292295 110450 16 Feb 2016 Blood group COLTON-NULL PHENOTYPE CN795021 07 Feb 2018 Disease Columnar cell hyperplasia of the breast MONDO C1707446 MONDO:0006166 17 Apr 2020 Disease Columnar cell variant thyroid gland papillary carcinoma MONDO C1333120 MONDO:0004102 17 Apr 2020 Disease Colver Steer Godman syndrome 16 Feb 2016 Disease Coma Human Phenotype Ontology C0009421 HP:0001259 16 Feb 2016 Disease Coma with respiratory acidosis, in the sequence of rhinopharyngitis and vomiting CN235368 02 Mar 2016 Finding Combarros Calleja Leno syndrome 16 Feb 2016 Disease Combat disorder MONDO C0009426 MONDO:0004049 17 Apr 2020 Disease COMBINED APOLIPOPROTEIN A-I AND C-III DEFICIENCY CN262193 21 Aug 2019 Disease Combined carcinoid and adenocarcinoma MONDO C0334302 MONDO:0021659 17 Apr 2020 Disease Combined cellular and humoral immune defects with granulomas NCBI curation C2673536 233650 16 Feb 2016 Disease Combined cervical dystonia MONDO CN204846 MONDO:0018267 17 Apr 2020 Disease Combined cystic and ground-glass pattern on pulmonary HRCT Human Phenotype Ontology C4476753 HP:0025395 04 Apr 2018 Finding Combined d-2- and l-2-hydroxyglutaric aciduria NCBI curation C2746066 615182 16 Feb 2016 Disease Combined deficiency of factor V and factor VIII, 1 NCBI curation C4551981 227300 16 Feb 2016 Disease Combined deficiency of factor V and factor VIII, with normal protein C and protein C inhibitor NCBI curation C1856882 227310 16 Feb 2016 Disease Combined deficiency of factor VII and factor VIII NCBI curation C1851377 134430 16 Feb 2016 Disease Combined deficiency of factor VIII and factor IX NCBI curation C1851376 134510 16 Feb 2016 Disease Combined deficiency of sialidase AND beta galactosidase C0268233 256540 16 Feb 2016 Disease Combined dystonia MONDO CN206969 MONDO:0020065 17 Apr 2020 Disease Combined hamartoma of the retinal pigment epithelium and retina Human Phenotype Ontology C1862062 HP:0030510 16 Feb 2016 Finding Combined hepatocellular carcinoma and cholangiocarcinoma MONDO C0221287 MONDO:0044791 17 Apr 2020 Disease Combined hyperactive dysfunction syndrome of the cranial nerves MONDO CN201241 MONDO:0016371 17 Apr 2020 Disease Combined hyperlipidemia C2712907 16 Feb 2016 Finding COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA OMIM C4540434 617780 617780 23 Nov 2017 Disease Combined immunodeficiency due to CRAC channel dysfunction MONDO C4303571 MONDO:0015695 17 Apr 2020 Disease Combined immunodeficiency due to GINS1 deficiency MONDO C4693356 MONDO:0044725 617827 17 Apr 2020 Disease Combined immunodeficiency due to ORAI1 deficiency MONDO C2748568 MONDO:0013007 612782 17 Apr 2020 Disease Combined immunodeficiency due to STIM1 deficiency MONDO C2748557 MONDO:0013008 612783 17 Apr 2020 Disease Combined immunodeficiency due to ZAP70 deficiency MONDO C1849236 MONDO:0010023 269840 17 Apr 2020 Disease Combined immunodeficiency with skin granulomas NCBI curation CN244414 20 Mar 2018 Disease Combined immunodeficiency, X-linked NCBI curation C1706416 312863 16 Feb 2016 Disease Combined immunodeficiency, X-linked, moderate CN260087 20 Jun 2019 Disease Combined inflammatory and immunologic defect NCBI curation C1857617 216920 16 Feb 2016 Disease Combined lung carcinoma MONDO C1333123 MONDO:0006167 17 Apr 2020 Disease Combined malonic and methylmalonic aciduria NCBI curation C3280314 614265 16 Feb 2016 Disease Combined mitochondrial respiratory chain deficiency NCBI curation CN221140 16 Feb 2016 Finding combined mitochondrial respiratory chain deficiency; neurological regression; complex movement disorder; intractable seizures NCBI curation 27 Jan 2020 Finding Combined molybdoflavoprotein enzyme deficiency C0268119 16 Feb 2016 Disease Combined oxidative phosphorylation deficiency OMIM phenotypic series CN228601 PS609060 16 Feb 2016 Disease Combined oxidative phosphorylation deficiency 1 NCBI curation C1836797 609060 16 Feb 2016 Disease Combined oxidative phosphorylation deficiency 10 NCBI curation C3553529 614702 16 Feb 2016 Disease Combined oxidative phosphorylation deficiency 11 NCBI curation C3554067 614922 16 Feb 2016 Disease Combined oxidative phosphorylation deficiency 12 NCBI curation C3554079 614924 16 Feb 2016 Disease Combined oxidative phosphorylation deficiency 13 NCBI curation C3554129 614932 16 Feb 2016 Disease Combined oxidative phosphorylation deficiency 14 NCBI curation C3554168 614946 16 Feb 2016 Disease Combined oxidative phosphorylation deficiency 15 NCBI curation C3554182 614947 16 Feb 2016 Disease Combined oxidative phosphorylation deficiency 16 NCBI curation C3809339 615395 16 Feb 2016 Disease Combined oxidative phosphorylation deficiency 17 NCBI curation C3809526 615440 16 Feb 2016 Disease Combined oxidative phosphorylation deficiency 18 NCBI curation C3810001 615578 16 Feb 2016 Disease Combined oxidative phosphorylation deficiency 19 NCBI curation C3810055 615595 16 Feb 2016 Disease Combined oxidative phosphorylation deficiency 2 NCBI curation C1864843 610498 16 Feb 2016 Disease Combined oxidative phosphorylation deficiency 20 NCBI curation C4014660 615917 16 Feb 2016 Disease Combined oxidative phosphorylation deficiency 21 NCBI curation C4014668 615918 16 Feb 2016 Disease Combined oxidative phosphorylation deficiency 22 NCBI curation C4015062 616045 16 Feb 2016 Disease Combined oxidative phosphorylation deficiency 23 NCBI curation C4015447 616198 16 Feb 2016 Disease Combined oxidative phosphorylation deficiency 24 NCBI curation C4015643 616239 16 Feb 2016 Disease Combined oxidative phosphorylation deficiency 25 NCBI curation C4225329 616430 16 Feb 2016 Disease Combined oxidative phosphorylation deficiency 26 NCBI curation C4225290 616539 16 Feb 2016 Disease Combined oxidative phosphorylation deficiency 27 NCBI curation C4225251 616672 16 Feb 2016 Disease Combined oxidative phosphorylation deficiency 28 NCBI curation C4225206 616794 16 Feb 2016 Disease Combined oxidative phosphorylation deficiency 29 NCBI curation C4225200 616811 16 Feb 2016 Disease Combined oxidative phosphorylation deficiency 3 NCBI curation C1864840 610505 16 Feb 2016 Disease Combined oxidative phosphorylation deficiency 30 NCBI curation C4310773 616974 10 Feb 2018 Disease Combined oxidative phosphorylation deficiency 31 NCBI curation C4310661 617228 20 Jun 2017 Disease Combined oxidative phosphorylation deficiency 32 NCBI curation C4540029 617664 25 Feb 2019 Disease Combined oxidative phosphorylation deficiency 33 NCBI curation C4540209 617713 25 Feb 2019 Disease Combined oxidative phosphorylation deficiency 34 NCBI curation C4693450 617872 25 Feb 2019 Disease Combined oxidative phosphorylation deficiency 35 NCBI curation C4693466 617873 25 Feb 2019 Disease Combined oxidative phosphorylation deficiency 36 NCBI curation C4693722 617950 25 Feb 2019 Disease Combined oxidative phosphorylation deficiency 37 NCBI curation C5193031 618329 25 Feb 2019 Disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 OMIM C5193064 618378 618378 10 Apr 2019 Disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 OMIM C5193075 618397 618397 21 Apr 2019 Disease Combined oxidative phosphorylation deficiency 4 NCBI curation C1857682 610678 16 Feb 2016 Disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40 OMIM CN272920 618835 618835 12 Apr 2020 Disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41 OMIM CN272921 618838 618838 12 Apr 2020 Disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42 OMIM CN272922 618839 618839 12 Apr 2020 Disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43 OMIM CN280853 618851 618851 26 Apr 2020 Disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44 OMIM CN280867 618855 618855 02 May 2020 Disease Combined oxidative phosphorylation deficiency 5 NCBI curation C2673642 611719 16 Feb 2016 Disease Combined oxidative phosphorylation deficiency 6 NCBI curation C3151753 300816 16 Feb 2016 Disease Combined oxidative phosphorylation deficiency 7 NCBI curation C3150801 613559 16 Feb 2016 Disease Combined oxidative phosphorylation deficiency 8 NCBI curation C3279793 614096 16 Feb 2016 Disease Combined oxidative phosphorylation deficiency 9 NCBI curation C3281234 614582 16 Feb 2016 Disease Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency NCBI curation 16 Feb 2016 Disease Combined Pituitary Hormone Deficiency, Dominant CN239342 02 Dec 2016 Disease Combined Pituitary Hormone Deficiency, Dominant/Recessive CN239238 02 Dec 2016 Disease Combined Pituitary Hormone Deficiency, Recessive CN239344 02 Dec 2016 Disease Combined pulmonary fibrosis-emphysema syndrome MONDO C4049343 MONDO:0017591 04 Jun 2020 Infectious disease Combined saposin deficiency NCBI curation C2673635 611721 16 Feb 2016 Disease Combined small cell lung carcinoma MONDO C1333125 MONDO:0003438 17 Apr 2020 Disease Combined T and B cell immunodeficiency NCBI curation CN228914 19 Oct 2016 Disease Combined thymoma MONDO MONDO:0002590 17 Apr 2020 Disease Comedo Human Phenotype Ontology C0221228 HP:0025249 02 Apr 2017 Finding Comedocarcinoma MONDO C0334370 MONDO:0003575 17 Apr 2020 Disease Comedonal acne Human Phenotype Ontology C0406481 HP:0040137 04 Apr 2018 Finding Comma-shaped carpal bones Human Phenotype Ontology C4025402 HP:0004235 16 Feb 2016 Finding Comma-shaped scaphoid Human Phenotype Ontology C4025395 HP:0004245 16 Feb 2016 Finding Commensal bacterial infectious disease MONDO CN281928 MONDO:0000315 04 Jun 2020 Infectious disease Commissural lip fistula MONDO CN228936 MONDO:0015381 17 Apr 2020 Disease Commissural lip pits NCBI curation C0399605 120500 16 Feb 2016 Disease Common atrioventricular canal C0221215 16 Feb 2016 Disease Common atrium Human Phenotype Ontology C0392482 HP:0011565 16 Feb 2016 Finding Common bile duct disease MONDO C0009440 MONDO:0002886 17 Apr 2020 Disease Common bile duct neoplasm MONDO C0009442 MONDO:0006709 17 Apr 2020 Disease Common carotid artery dissection Human Phenotype Ontology C4023015 HP:0012162 16 Feb 2016 Finding Common cold MONDO C0009443 MONDO:0005709 17 Apr 2020 Disease Common cystic lymphatic malformation MONDO CN242118 MONDO:0018720 17 Apr 2020 Disease Common hematopoietic neoplasm MONDO MONDO:0006168 17 Apr 2020 Disease Common origin of the right brachiocephalic artery and left common carotid artery Human Phenotype Ontology C4021141 HP:0011589 16 Feb 2016 Finding Common peroneal nerve lesion MONDO C0270909 MONDO:0001542 17 Apr 2020 Disease COMMON Syndrome CN257773 02 Nov 2018 Disease Common Variable Immune Deficiency, Dominant CN239265 02 Dec 2016 Disease Common Variable Immune Deficiency, Recessive CN239296 02 Dec 2016 Disease Common variable immunodeficiency NCBI curation C2936664 19 Aug 2019 Finding Common variable immunodeficiency 1 NCBI curation C3149378 607594 16 Feb 2016 Disease Common variable immunodeficiency 10 NCBI curation C3809991 615577 16 Feb 2016 Disease Common variable immunodeficiency 11 NCBI curation C4014258 615767 16 Feb 2016 Disease Common variable immunodeficiency 2 NCBI curation C3150354 240500 16 Feb 2016 Disease Common variable immunodeficiency 3 NCBI curation C3150738 613493 16 Feb 2016 Disease Common variable immunodeficiency 4 NCBI curation C3150739 613494 16 Feb 2016 Disease Common variable immunodeficiency 5 NCBI curation C3150740 613495 16 Feb 2016 Disease Common variable immunodeficiency 6 NCBI curation C3150741 613496 16 Feb 2016 Disease Common variable immunodeficiency 7 NCBI curation C3542922 614699 16 Feb 2016 Disease Common variable immunodeficiency 8, with autoimmunity NCBI curation C3553512 614700 16 Feb 2016 Disease Communicating congenital bronchopulmonary-foregut malformation MONDO CN202765 MONDO:0017247 17 Apr 2020 Disease Communicating hydrocephalus Human Phenotype Ontology C0009451 HP:0001334 16 Feb 2016 Finding communication deficit 05 Sep 2019 Finding communication disorder C0009460 18 Jan 2019 Finding COMP-related disorders 21 Dec 2019 Disease Compartment syndrome C0009492 16 Feb 2016 Disease Compensated hemolysis 19 Sep 2017 Finding Compensated hemolytic anemia Human Phenotype Ontology C4025283 HP:0004863 16 Feb 2016 Finding Compensated hypothyroidism Human Phenotype Ontology C0271790 HP:0008223 16 Feb 2016 Finding Compensatory chin elevation Human Phenotype Ontology C1846911 HP:0001477 16 Feb 2016 Finding Compensatory emphysema MONDO C0155918 MONDO:0000924 17 Apr 2020 Disease Compensatory scoliosis Human Phenotype Ontology C0343292 HP:0100884 16 Feb 2016 Finding Complement component 2 deficiency C3150275 217000 16 Feb 2016 Disease Complement component 3 deficiency, autosomal recessive NCBI curation C3151071 613779 16 Feb 2016 Disease Complement component 4, partial deficiency of NCBI curation C1852700 120790 16 Feb 2016 Disease Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor NCBI curation C4016986 16 Feb 2016 Disease Complement component 4a deficiency NCBI curation C1852692 614380 16 Feb 2016 Disease Complement component 4b deficiency MONDO C3280641 MONDO:0013720 614379 22 Apr 2020 Disease Complement component 6 deficiency NCBI curation C2676232 612446 16 Feb 2016 Disease Complement component 7 deficiency NCBI curation C1864694 610102 16 Feb 2016 Disease COMPLEMENT COMPONENT 8, ALPHA SUBUNIT, A/B POLYMORPHISM 16 Feb 2016 Disease Complement component 9 deficiency NCBI curation C3151189 613825 16 Feb 2016 Disease Complement component c1r/c1s deficiency NCBI curation C3150274 216950 16 Feb 2016 Disease Complement component c1s deficiency NCBI curation C3151078 613783 16 Feb 2016 Disease Complement component deficiency 16 Feb 2016 Disease Complement component receptor 1 16 Feb 2016 Disease Complement deficiency Human Phenotype Ontology C0272242 HP:0004431 16 Feb 2016 Finding Complement factor B deficiency NCBI curation C3809950 615561 16 Feb 2016 Disease Complement factor d deficiency NCBI curation C0398764 613912 16 Feb 2016 Disease Complement receptor deficiency C0398783 16 Feb 2016 Disease Complete androgen insensitivity syndrome NCBI curation C0936016 01 Nov 2018 Disease Complete atrioventricular canal defect Human Phenotype Ontology C0344787 HP:0001674 16 Feb 2016 Finding Complete atrioventricular canal-left heart obstruction syndrome MONDO CN207278 MONDO:0020406 17 Apr 2020 Disease Complete atrioventricular canal-tetralogy of fallot syndrome MONDO CN207280 MONDO:0020408 17 Apr 2020 Disease Complete atrioventricular canal-ventricle hypoplasia syndrome MONDO CN207279 MONDO:0020407 17 Apr 2020 Disease Complete breech presentation Human Phenotype Ontology C0233283 HP:0010860 16 Feb 2016 Finding Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency NCBI curation CN042980 16 Feb 2016 Disease Complete congenital stationary night blindness Human Phenotype Ontology C4048798 HP:0030640 16 Feb 2016 Finding Complete diaphragmatic absence of pericardium Human Phenotype Ontology C4023259 HP:0011630 16 Feb 2016 Finding Complete duplication of distal phalanx of the thumb Human Phenotype Ontology C4021427 HP:0009606 16 Feb 2016 Finding Complete duplication of hallux phalanx Human Phenotype Ontology C4021336 HP:0010100 16 Feb 2016 Finding Complete duplication of phalanx of hand Human Phenotype Ontology C4024121 HP:0009998 16 Feb 2016 Finding Complete duplication of proximal phalanx of the thumb Human Phenotype Ontology C4024273 HP:0009608 16 Feb 2016 Finding Complete duplication of the 1st metatarsal Human Phenotype Ontology C4024050 HP:0010098 16 Feb 2016 Finding Complete duplication of the distal phalanges of the hand Human Phenotype Ontology C4024118 HP:0010001 16 Feb 2016 Finding Complete duplication of the distal phalanx of the 2nd finger Human Phenotype Ontology C4024151 HP:0009950 16 Feb 2016 Finding Complete duplication of the distal phalanx of the 2nd toe Human Phenotype Ontology C4023835 HP:0010424 16 Feb 2016 Finding Complete duplication of the distal phalanx of the 3rd finger Human Phenotype Ontology C4024141 HP:0009965 16 Feb 2016 Finding Complete duplication of the distal phalanx of the 3rd toe Human Phenotype Ontology C4020990 HP:0100407 16 Feb 2016 Finding Complete duplication of the distal phalanx of the 4th finger Human Phenotype Ontology C4024133 HP:0009978 16 Feb 2016 Finding Complete duplication of the distal phalanx of the 4th toe Human Phenotype Ontology C4020989 HP:0100408 16 Feb 2016 Finding Complete duplication of the distal phalanx of the 5th finger Human Phenotype Ontology C4024126 HP:0009991 16 Feb 2016 Finding Complete duplication of the distal phalanx of the 5th toe Human Phenotype Ontology C4020988 HP:0100409 16 Feb 2016 Finding Complete duplication of the distal phalanx of the hallux Human Phenotype Ontology C4024051 HP:0010096 16 Feb 2016 Finding Complete duplication of the first metacarpal Human Phenotype Ontology C4024271 HP:0009615 16 Feb 2016 Finding Complete duplication of the middle phalanges of the hand Human Phenotype Ontology C4024117 HP:0010002 16 Feb 2016 Finding Complete duplication of the middle phalanx of the 2nd finger Human Phenotype Ontology C4024150 HP:0009952 16 Feb 2016 Finding Complete duplication of the middle phalanx of the 2nd toe Human Phenotype Ontology C4023833 HP:0010426 16 Feb 2016 Finding Complete duplication of the middle phalanx of the 3rd finger Human Phenotype Ontology C4024140 HP:0009966 16 Feb 2016 Finding Complete duplication of the middle phalanx of the 3rd toe Human Phenotype Ontology C4020987 HP:0100410 16 Feb 2016 Finding Complete duplication of the middle phalanx of the 4th finger Human Phenotype Ontology C4024132 HP:0009979 16 Feb 2016 Finding Complete duplication of the middle phalanx of the 4th toe Human Phenotype Ontology C4020986 HP:0100411 16 Feb 2016 Finding Complete duplication of the middle phalanx of the 5th finger Human Phenotype Ontology C4024125 HP:0009992 16 Feb 2016 Finding Complete duplication of the middle phalanx of the 5th toe Human Phenotype Ontology C4020985 HP:0100412 16 Feb 2016 Finding Complete duplication of the phalanges of the 2nd finger Human Phenotype Ontology C4024145 HP:0009957 16 Feb 2016 Finding Complete duplication of the phalanges of the 2nd toe Human Phenotype Ontology C4023830 HP:0010429 16 Feb 2016 Finding Complete duplication of the phalanges of the 3rd finger Human Phenotype Ontology C4024143 HP:0009960 16 Feb 2016 Finding Complete duplication of the phalanges of the 4th finger Human Phenotype Ontology C4024135 HP:0009973 16 Feb 2016 Finding Complete duplication of the phalanges of the 5th finger Human Phenotype Ontology C4024128 HP:0009986 16 Feb 2016 Finding Complete duplication of the proximal phalanges of the hand Human Phenotype Ontology C4024119 HP:0010000 16 Feb 2016 Finding Complete duplication of the proximal phalanx of the 2nd finger Human Phenotype Ontology C4024148 HP:0009954 16 Feb 2016 Finding Complete duplication of the proximal phalanx of the 2nd toe Human Phenotype Ontology C4021271 HP:0010422 16 Feb 2016 Finding Complete duplication of the proximal phalanx of the 3rd finger Human Phenotype Ontology C4024139 HP:0009967 16 Feb 2016 Finding Complete duplication of the proximal phalanx of the 3rd toe Human Phenotype Ontology C4022105 HP:0100413 16 Feb 2016 Finding Complete duplication of the proximal phalanx of the 4th finger Human Phenotype Ontology C4024131 HP:0009980 16 Feb 2016 Finding Complete duplication of the proximal phalanx of the 4th toe Human Phenotype Ontology C4022104 HP:0100414 16 Feb 2016 Finding Complete duplication of the proximal phalanx of the 5th finger Human Phenotype Ontology C4024124 HP:0009993 16 Feb 2016 Finding Complete duplication of the proximal phalanx of the 5th toe Human Phenotype Ontology C4020984 HP:0100415 16 Feb 2016 Finding Complete duplication of the proximal phalanx of the hallux Human Phenotype Ontology C4024053 HP:0010094 16 Feb 2016 Finding Complete duplication of thumb phalanx Human Phenotype Ontology C3554724 HP:0009943 16 Feb 2016 Finding complete gastroitestinal failure 05 Sep 2019 Finding Complete heart block with broad QRS complexes Human Phenotype Ontology C4476543 HP:0005170 04 Apr 2018 Finding Complete heart block with narrow QRS complexes Human Phenotype Ontology C1841661 HP:0005178 16 Feb 2016 Finding Complete left sided absence of pericardium Human Phenotype Ontology C4023256 HP:0011633 16 Feb 2016 Finding Complete right sided absence of pericardium Human Phenotype Ontology C4023258 HP:0011631 16 Feb 2016 Finding Complete septate uterus MONDO C2957116 MONDO:0015840 17 Apr 2020 Disease Complete trisomy 13 syndrome C0152095 16 Feb 2016 Disease Complete trisomy 18 syndrome C0152096 16 Feb 2016 Disease Complete trisomy 20 syndrome C0265479 16 Feb 2016 Disease Complete trisomy 21 syndrome NCBI curation C0013080 190685 16 Feb 2016 Disease Complex chromosomal rearrangement MONDO CN261726 MONDO:0016998 17 Apr 2020 Disease complex congenital heart defect C3536558 18 Jan 2019 Finding Complex endometrial hyperplasia MONDO C0349578 MONDO:0006169 17 Apr 2020 Disease complex febrile convulsions 05 Sep 2019 Finding complex febrile seizure 05 Sep 2019 Finding Complex febrile seizures Human Phenotype Ontology C0751057 HP:0011172 16 Feb 2016 Finding Complex heart defect CN242285 27 Apr 2017 Finding Complex heart disease CN238728 19 Oct 2016 Finding Complex hereditary spastic paraplegia MONDO C0393556 MONDO:0015150 17 Apr 2020 Disease Complex neurodevelopmental disorder MONDO MONDO:0100038 17 Apr 2020 Disease Complex organic aciduria Human Phenotype Ontology C3151953 HP:0008336 16 Feb 2016 Finding Complex palmar dermatoglyphic pattern Human Phenotype Ontology C4024835 HP:0007602 16 Feb 2016 Finding Complex partial epilepsy C0085417 14 Mar 2017 Finding complex partial seizure 05 Sep 2019 Disease complex partial seizure disorder 05 Sep 2019 Finding Complex regional pain syndrome MONDO C0458219 MONDO:0019369 17 Apr 2020 Disease complex regional pain syndrome of the lower limb 05 Sep 2019 Finding Complex regional pain syndrome type 2 MONDO C0007462 MONDO:0020572 17 Apr 2020 Disease Complex sleep apnea MONDO MONDO:0024358 17 Apr 2020 Disease Complex V deficiency NCBI curation C0342779 16 Feb 2016 Disease Complex vascular malformation with associated anomalies MONDO CN200998 MONDO:0016235 17 Apr 2020 Disease Composite hemangioendothelioma MONDO C1304513 MONDO:0018712 17 Apr 2020 Disease Comprehensive testing for inherited renal disease CN580793 03 Nov 2017 Disease compression of cervico-medullary junction 13 May 2019 Finding Concave nail Human Phenotype Ontology C0221261 HP:0001598 16 Feb 2016 Finding Concave nasal ridge Human Phenotype Ontology C0264169 HP:0011120 16 Feb 2016 Finding Concentric hypertrophic cardiomyopathy Human Phenotype Ontology C0238044 HP:0005157 16 Feb 2016 Finding Concomitant strabismus Human Phenotype Ontology C0152203 HP:0025069 04 Apr 2018 Finding Concurrent diagnosis of XO/XY mosaicism 26 Feb 2020 Finding conduct disorder C0149654 05 Sep 2019 Finding Conduction disorder of the heart C0264886 115080 16 Feb 2016 Disease Conduction system disorder MONDO MONDO:0005449 17 Apr 2020 Disease Conductive deafness malformed external ear 16 Feb 2016 Disease Conductive deafness-ptosis-skeletal anomalies syndrome MONDO C1857340 MONDO:0009084 221320 17 Apr 2020 Disease Conductive hearing impairment Human Phenotype Ontology C0018777 HP:0000405 16 Feb 2016 Finding Conductive hearing loss disorder MONDO MONDO:0020679 17 Apr 2020 Disease Cone dysfunction syndrome Human Phenotype Ontology C0543968 HP:0030637 16 Feb 2016 Finding Cone dystrophy 3 NCBI curation C1865869 602093 16 Feb 2016 Disease Cone dystrophy 4 NCBI curation C2751308 613093 16 Feb 2016 Disease Cone dystrophy 5, X-linked NCBI curation C3887937 16 Feb 2016 Disease cone dystrophy with supernormal rod electroretinogram 12 Feb 2020 Disease Cone dystrophy with supernormal rod response MONDO C1835897 MONDO:0012475 610356 17 Apr 2020 Disease Cone dystrophy, X-linked, with tapetal-like sheen MONDO C1844775 MONDO:0010567 304030 22 Apr 2020 Disease Cone monochromacy Human Phenotype Ontology C4023318 HP:0011517 16 Feb 2016 Finding Cone monochromatism C0339537 303700 16 Feb 2016 Disease Cone Rod Dystrophy 20 Mar 2019 Disease Cone-rod degeneration 12 Feb 2020 Disease Cone-rod dystrophy NCBI curation C4085590 16 Feb 2016 Disease Cone-rod dystrophy 1 C1833564 600624 16 Feb 2016 Disease Cone-rod dystrophy 10 NCBI curation C1846529 610283 16 Feb 2016 Disease Cone-rod dystrophy 11 NCBI curation C1835865 610381 16 Feb 2016 Disease Cone-rod dystrophy 12 NCBI curation C2675210 612657 16 Feb 2016 Disease Cone-rod dystrophy 13 NCBI curation C2750720 608194 16 Feb 2016 Disease Cone-rod dystrophy 15 NCBI curation C3150912 613660 16 Feb 2016 Disease Cone-rod dystrophy 16 NCBI curation C3281045 614500 16 Feb 2016 Disease Cone-rod dystrophy 17 NCBI curation C3554610 615163 16 Feb 2016 Disease Cone-rod dystrophy 18 NCBI curation C3809299 615374 16 Feb 2016 Disease Cone-rod dystrophy 19 NCBI curation C4014501 615860 16 Feb 2016 Disease Cone-rod dystrophy 2 C3489532 120970 16 Feb 2016 Disease Cone-rod dystrophy 20 NCBI curation C4014856 615973 16 Feb 2016 Disease Cone-rod dystrophy 21 NCBI curation C4049066 616502 16 Feb 2016 Disease Cone-rod dystrophy 3 C1858806 604116 16 Feb 2016 Disease Cone-rod dystrophy 5 C1832976 600977 16 Feb 2016 Disease Cone-rod dystrophy 6 C1866293 601777 16 Feb 2016 Disease Cone-rod dystrophy 7 NCBI curation C1863634 603649 16 Feb 2016 Disease Cone-rod dystrophy 8 NCBI curation C1854180 605549 16 Feb 2016 Disease Cone-rod dystrophy 9 NCBI curation C1423873 612775 16 Feb 2016 Disease Cone-rod dystrophy and hearing loss OMIM phenotypic series C4310657 PS617236 29 Dec 2019 Disease Cone-rod dystrophy and hearing loss 1 NCBI curation C5193018 617236 29 Dec 2019 Disease Cone-rod dystrophy and hearing loss 2 NCBI curation C5193051 618358 29 Dec 2019 Disease CONE-ROD DYSTROPHY, AIPL1-RELATED C2751764 16 Feb 2016 Disease Cone-Rod Dystrophy, Dominant CN239348 02 Dec 2016 Disease Cone-Rod Dystrophy, Recessive CN239309 02 Dec 2016 Disease Cone-rod dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction NCBI curation C1849333 268315 16 Feb 2016 Disease Cone-rod dystrophy, X-linked 1 NCBI curation C1844776 304020 16 Feb 2016 Disease Cone-shaped capital femoral epiphysis Human Phenotype Ontology C1846157 HP:0008789 16 Feb 2016 Finding Cone-shaped distal radial epiphysis Human Phenotype Ontology C4025457 HP:0004000 04 Apr 2018 Finding Cone-shaped epiphyses fused within their metaphyses Human Phenotype Ontology C4025255 HP:0005066 16 Feb 2016 Finding Cone-shaped epiphyses of phalanges 2 to 5 Human Phenotype Ontology C1857005 HP:0006035 16 Feb 2016 Finding Cone-shaped epiphyses of the 2nd finger Human Phenotype Ontology C4024335 HP:0009490 16 Feb 2016 Finding Cone-shaped epiphyses of the 2nd toe Human Phenotype Ontology C4022375 HP:0100046 16 Feb 2016 Finding Cone-shaped epiphyses of the 3rd finger Human Phenotype Ontology C4024381 HP:0009412 16 Feb 2016 Finding Cone-shaped epiphyses of the 3rd toe Human Phenotype Ontology C4022364 HP:0100057 16 Feb 2016 Finding Cone-shaped epiphyses of the 4th finger Human Phenotype Ontology C4024395 HP:0009395 16 Feb 2016 Finding Cone-shaped epiphyses of the 4th toe Human Phenotype Ontology C4022353 HP:0100068 16 Feb 2016 Finding Cone-shaped epiphyses of the 5th finger Human Phenotype Ontology C4024405 HP:0009384 16 Feb 2016 Finding Cone-shaped epiphyses of the 5th toe Human Phenotype Ontology C4022342 HP:0100079 16 Feb 2016 Finding Cone-shaped epiphyses of the distal phalanges of the hand Human Phenotype Ontology C4023951 HP:0010248 16 Feb 2016 Finding Cone-shaped epiphyses of the hallux Human Phenotype Ontology C4024044 HP:0010115 16 Feb 2016 Finding Cone-shaped epiphyses of the middle phalanges of the hand Human Phenotype Ontology C1860828 HP:0010259 16 Feb 2016 Finding Cone-shaped epiphyses of the phalanges of the hand Human Phenotype Ontology C1859480 HP:0010230 16 Feb 2016 Finding Cone-shaped epiphyses of the proximal phalanges of the hand Human Phenotype Ontology C4023931 HP:0010270 16 Feb 2016 Finding Cone-shaped epiphyses of the toes Human Phenotype Ontology C4023995 HP:0010164 16 Feb 2016 Finding Cone-shaped epiphysis Human Phenotype Ontology C1865037 HP:0010579 16 Feb 2016 Finding Cone-shaped epiphysis of the 1st metacarpal Human Phenotype Ontology C4024106 HP:0010017 16 Feb 2016 Finding Cone-shaped epiphysis of the 1st metatarsal Human Phenotype Ontology C4024008 HP:0010151 16 Feb 2016 Finding Cone-shaped epiphysis of the distal phalanx of the 2nd finger Human Phenotype Ontology C4024326 HP:0009504 16 Feb 2016 Finding Cone-shaped epiphysis of the distal phalanx of the 2nd toe Human Phenotype Ontology C4022319 HP:0100102 16 Feb 2016 Finding Cone-shaped epiphysis of the distal phalanx of the 3rd finger Human Phenotype Ontology C4024430 HP:0009337 16 Feb 2016 Finding Cone-shaped epiphysis of the distal phalanx of the 3rd toe Human Phenotype Ontology C4022284 HP:0100137 16 Feb 2016 Finding Cone-shaped epiphysis of the distal phalanx of the 4th finger Human Phenotype Ontology C4024495 HP:0009252 16 Feb 2016 Finding Cone-shaped epiphysis of the distal phalanx of the 4th toe Human Phenotype Ontology C4022250 HP:0100171 16 Feb 2016 Finding Cone-shaped epiphysis of the distal phalanx of the 5th finger Human Phenotype Ontology C4021675 HP:0004222 16 Feb 2016 Finding Cone-shaped epiphysis of the distal phalanx of the 5th toe Human Phenotype Ontology C4022217 HP:0100204 16 Feb 2016 Finding Cone-shaped epiphysis of the distal phalanx of the hallux Human Phenotype Ontology C4024019 HP:0010140 16 Feb 2016 Finding Cone-shaped epiphysis of the distal phalanx of the thumb Human Phenotype Ontology C4021409 HP:0009677 16 Feb 2016 Finding Cone-shaped epiphysis of the middle phalanx of the 2nd finger Human Phenotype Ontology C4021458 HP:0009515 16 Feb 2016 Finding Cone-shaped epiphysis of the middle phalanx of the 2nd toe Human Phenotype Ontology C4022308 HP:0100113 16 Feb 2016 Finding Cone-shaped epiphysis of the middle phalanx of the 3rd finger Human Phenotype Ontology C4024442 HP:0009323 16 Feb 2016 Finding Cone-shaped epiphysis of the middle phalanx of the 3rd toe Human Phenotype Ontology C4022273 HP:0100148 16 Feb 2016 Finding Cone-shaped epiphysis of the middle phalanx of the 4th finger Human Phenotype Ontology C4024525 HP:0009216 16 Feb 2016 Finding Cone-shaped epiphysis of the middle phalanx of the 4th toe Human Phenotype Ontology C4022239 HP:0100182 16 Feb 2016 Finding Cone-shaped epiphysis of the middle phalanx of the 5th finger Human Phenotype Ontology C4024535 HP:0009205 16 Feb 2016 Finding Cone-shaped epiphysis of the middle phalanx of the 5th toe Human Phenotype Ontology C4022206 HP:0100215 16 Feb 2016 Finding Cone-shaped epiphysis of the proximal phalanx of the 2nd finger Human Phenotype Ontology C4021456 HP:0009526 16 Feb 2016 Finding Cone-shaped epiphysis of the proximal phalanx of the 2nd toe Human Phenotype Ontology C4022297 HP:0100124 16 Feb 2016 Finding Cone-shaped epiphysis of the proximal phalanx of the 3rd finger Human Phenotype Ontology C4024420 HP:0009348 16 Feb 2016 Finding Cone-shaped epiphysis of the proximal phalanx of the 3rd toe Human Phenotype Ontology C4022262 HP:0100159 16 Feb 2016 Finding Cone-shaped epiphysis of the proximal phalanx of the 4th finger Human Phenotype Ontology C4024486 HP:0009263 16 Feb 2016 Finding Cone-shaped epiphysis of the proximal phalanx of the 4th toe Human Phenotype Ontology C4022228 HP:0100193 16 Feb 2016 Finding Cone-shaped epiphysis of the proximal phalanx of the 5th finger Human Phenotype Ontology C4020784 HP:0009155 16 Feb 2016 Finding Cone-shaped epiphysis of the proximal phalanx of the 5th toe Human Phenotype Ontology C4022195 HP:0100226 16 Feb 2016 Finding Cone-shaped epiphysis of the proximal phalanx of the hallux Human Phenotype Ontology C4024030 HP:0010129 16 Feb 2016 Finding Cone-shaped epiphysis of the proximal phalanx of the thumb Human Phenotype Ontology C4024251 HP:0009666 16 Feb 2016 Finding Cone-shaped epiphysis of the thumb Human Phenotype Ontology C4021407 HP:0009688 16 Feb 2016 Finding Cone-shaped metacarpal epiphyses Human Phenotype Ontology C1855239 HP:0006059 16 Feb 2016 Finding Cone/cone-rod dystrophy Human Phenotype Ontology C0730290 HP:0000548 16 Feb 2016 Disease Confetti hypopigmentation pattern of lower leg skin Human Phenotype Ontology C4024847 HP:0007554 16 Feb 2016 Finding Confetti-like hypopigmented macules Human Phenotype Ontology C1851705 HP:0007449 16 Feb 2016 Finding Confetti-like macular atrophy MONDO MONDO:0016376 17 Apr 2020 Disease Confirm Williams syndrome CN231396 16 Feb 2016 Finding Confusion Human Phenotype Ontology C0009676 HP:0001289 16 Feb 2016 Finding Confusional arousal Human Phenotype Ontology C0752295 HP:0025237 02 Apr 2017 Finding Congenital MONDO MONDO:0021140 17 Apr 2020 Disease Congenital abducens nerve palsy MONDO CN237630 MONDO:0018600 17 Apr 2020 Disease Congenital abnormal hair pattern Human Phenotype Ontology C4023398 HP:0011361 16 Feb 2016 Finding Congenital abnormality MONDO C0000768 MONDO:0000839 12 Jun 2020 Finding Congenital absence of both forearm and hand MONDO C0265575 MONDO:0017443 17 Apr 2020 Disease Congenital absence of both forearm and hand, bilateral MONDO MONDO:0017499 17 Apr 2020 Disease Congenital absence of both forearm and hand, unilateral MONDO MONDO:0017498 17 Apr 2020 Disease Congenital absence of both lower leg and foot MONDO C0431991 MONDO:0017444 17 Apr 2020 Disease Congenital absence of both lower leg and foot, bilateral MONDO MONDO:0017501 17 Apr 2020 Disease Congenital absence of both lower leg and foot, unilateral MONDO MONDO:0017500 17 Apr 2020 Disease Congenital absence of cervical vertebra NCBI curation C0432160 214290 16 Feb 2016 Disease Congenital absence of foreskin Human Phenotype Ontology C0577242 HP:0012421 16 Feb 2016 Finding Congenital absence of gallbladder NCBI curation C0266251 137040 16 Feb 2016 Disease Congenital absence of germinal epithelium of testes C1384583 305700 16 Feb 2016 Disease Congenital absence of gluteal muscles Human Phenotype Ontology C2930932 HP:0009013 16 Feb 2016 Finding Congenital absence of lung C3275954 601612 16 Feb 2016 Disease Congenital absence of nasal septum C0685687 18 Jan 2019 Finding Congenital absence of salivary gland NCBI curation C0158667 180920 16 Feb 2016 Disease Congenital absence of septum pellucidum MONDO MONDO:0022349 17 Apr 2020 Disease Congenital absence of skin of limbs Human Phenotype Ontology C4024858 HP:0007506 16 Feb 2016 Finding Congenital absence of the eyebrow/eyelashes MONDO MONDO:0020188 17 Apr 2020 Disease Congenital absence of the pericardium CN232949 16 Feb 2016 Finding Congenital absence of the sternocleidomastoid muscle C2931075 16 Feb 2016 Disease Congenital absence of thigh and lower leg with foot present MONDO C0265626 MONDO:0017442 17 Apr 2020 Disease Congenital absence of thigh and lower leg with foot present, bilateral MONDO MONDO:0017497 17 Apr 2020 Disease Congenital absence of thigh and lower leg with foot present, unilateral MONDO MONDO:0017496 17 Apr 2020 Disease Congenital absence of upper arm and forearm with hand present MONDO C0265574 MONDO:0017441 17 Apr 2020 Disease Congenital absence of upper arm and forearm with hand present, bilateral MONDO MONDO:0017495 17 Apr 2020 Disease Congenital absence of upper arm and forearm with hand present, unilateral MONDO MONDO:0017494 17 Apr 2020 Disease Congenital absence/hypoplasia of fingers excluding thumb MONDO MONDO:0017448 17 Apr 2020 Disease Congenital absence/hypoplasia of fingers excluding thumb, bilateral MONDO MONDO:0017508 17 Apr 2020 Disease Congenital absence/hypoplasia of fingers excluding thumb, unilateral MONDO C0220660 MONDO:0007062 102650 17 Apr 2020 Disease Congenital absence/hypoplasia of thumb MONDO CN203192 MONDO:0017447 17 Apr 2020 Disease Congenital absence/hypoplasia of thumb, bilateral MONDO MONDO:0017507 17 Apr 2020 Disease Congenital absence/hypoplasia of thumb, unilateral MONDO MONDO:0017506 17 Apr 2020 Disease Congenital acardia MONDO MONDO:0022357 17 Apr 2020 Disease Congenital accessory mitral valve tissue MONDO CN227864 MONDO:0020402 17 Apr 2020 Disease Congenital achiasma MONDO C4518345 MONDO:0017929 17 Apr 2020 Disease Congenital adrenal hyperplasia Human Phenotype Ontology C0001627 HP:0008258 16 Feb 2016 Disease Congenital Adrenal Hyperplasia due to Apparent Combined P450c17 and P450c21 Deficiency C1860042 16 Feb 2016 Disease Congenital adrenal hypoplasia Human Phenotype Ontology C0220766 HP:0008244 16 Feb 2016 Finding Congenital adrenal hypoplasia of maternal cause MONDO MONDO:0019847 17 Apr 2020 Disease Congenital adrenal hypoplasia, X-linked C0342482 300200 16 Feb 2016 Disease Congenital Adrenal Insufficiency C3502131 02 Dec 2016 Disease Congenital agammaglobulinemia MONDO C1457897 MONDO:0001902 17 Apr 2020 Disease Congenital agenesis of the scrotum MONDO CN258466 MONDO:0044644 17 Apr 2020 Disease Congenital agranulocytosis Human Phenotype Ontology C4551555 HP:0005541 16 Feb 2016 Disease Congenital alopecia totalis Human Phenotype Ontology C4025175 HP:0005597 16 Feb 2016 Finding Congenital amegakaryocytic thrombocytopenia C1327915 604498 16 Feb 2016 Disease Congenital amputation 16 Feb 2016 Disease Congenital amyoplasia MONDO C0812412 MONDO:0044629 17 Apr 2020 Disease Congenital and infantile nephrotic syndrome MONDO CN206921 MONDO:0019987 17 Apr 2020 Disease Congenital anemia MONDO C0158995 MONDO:0000577 17 Apr 2020 Disease Congenital anemia with ringed sideroblasts in the bone marrow 10 Oct 2017 Finding Congenital aneurysm of ascending aorta C0345050 607086 16 Feb 2016 Disease Congenital aneurysms of the great vessels 16 Feb 2016 Disease Congenital aniridia NCBI curation C0003076 31 Oct 2016 Disease Congenital anomalies C0151491 16 Feb 2016 Disease Congenital anomalies of kidney and urinary tract OMIM phenotypic series C1968949 PS610805 07 Dec 2016 Disease Congenital anomalies of kidney and urinary tract 1, susceptibility to NCBI curation C1835826 610805 24 Aug 2016 Disease CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3 OMIM C4748921 618270 618270 10 Jan 2019 Disease CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY OMIM C4539968 617641 617641 27 Aug 2017 Disease Congenital anomalies of kidney and urinary tract type 2 MONDO C1840451 MONDO:0027676 143400 22 Apr 2020 Disease Congenital anomalies of the kidney and urinary tract CN260579 20 Jun 2019 Finding congenital anomaly 05 Sep 2019 Finding Congenital anomaly of cardiovascular system MONDO MONDO:0024239 17 Apr 2020 Disease congenital anomaly of diaphragm C0158782 18 Jan 2019 Finding Congenital anomaly of eye NCBI curation C0015393 16 Feb 2016 Disease congenital anomaly of finger C0265605 18 Jan 2019 Finding Congenital anomaly of hepatic vein MONDO C3163825 MONDO:0019836 17 Apr 2020 Disease Congenital anomaly of superior vena cava MONDO C0265928 MONDO:0019829 17 Apr 2020 Disease Congenital anomaly of the coronary sinus MONDO CN227701 MONDO:0019831 17 Apr 2020 Disease Congenital anomaly of the great arteries MONDO C0948632 MONDO:0020292 17 Apr 2020 Disease Congenital anomaly of the great veins MONDO C0158632 MONDO:0018185 17 Apr 2020 Disease Congenital anomaly of the inferior vena cava MONDO C0265932 MONDO:0019830 17 Apr 2020 Disease Congenital anomaly of the mitral subvalvular apparatus MONDO CN226599 MONDO:0015109 17 Apr 2020 Disease Congenital anomaly of ventricular septum MONDO CN242122 MONDO:0018771 17 Apr 2020 Disease congenital anophthalmos 05 Sep 2019 Finding Congenital anosmia C0393778 107200 16 Feb 2016 Disease Congenital antithrombin deficiency 16 Feb 2016 Disease Congenital antithrombin deficiency type 2 16 Feb 2016 Disease Congenital antithrombin deficiency type 3 16 Feb 2016 Disease Congenital aortic valve insufficiency MONDO C0158617 MONDO:0019809 17 Apr 2020 Disease Congenital aortic valve stenosis MONDO C0152417 MONDO:0017735 17 Apr 2020 Disease Congenital aortopulmonary window MONDO C2931610 MONDO:0016077 17 Apr 2020 Disease Congenital aplastic anemia 16 Feb 2016 Disease Congenital arteriovenous fistula MONDO C0332965 MONDO:0020296 17 Apr 2020 Disease Congenital arteriovenous shunt 16 Feb 2016 Disease Congenital articular rigidity 16 Feb 2016 Disease Congenital ATN1 related disorder 10 Jan 2018 Disease Congenital atresia of colon C0266190 303650 16 Feb 2016 Disease Congenital atrioventricular dissociation Human Phenotype Ontology C4025299 HP:0004752 16 Feb 2016 Finding Congenital axonal neuropathy with encephalopathy MONDO CN261045 MONDO:0034041 17 Apr 2020 Disease Congenital benign spinal muscular atrophy dominant 16 Feb 2016 Disease Congenital bilateral absence of the vas deferens NCBI curation C1865433 08 Feb 2020 Disease Congenital bilateral absence of vas deferens CN237795 19 Aug 2016 Finding Congenital bilateral absence of vas deferens, X-linked CN260014 18 Jun 2019 Disease Congenital bilateral aplasia of vas deferens from CFTR mutation NCBI curation C0403814 277180 08 Feb 2020 Disease Congenital bilateral cataract 26 Feb 2020 Finding Congenital bilateral hip dislocation Human Phenotype Ontology C0158713 HP:0008780 16 Feb 2016 Finding Congenital bilateral megacalycosis MONDO CN227671 MONDO:0019647 17 Apr 2020 Disease Congenital bilateral perisylvian syndrome C1845668 300388 16 Feb 2016 Disease Congenital bilateral ptosis Human Phenotype Ontology C1836264 HP:0007911 16 Feb 2016 Finding congenital bilateral shortening of upper limbs 05 Sep 2019 Finding Congenital Bile Acid Synthesis Defect CN239183 02 Dec 2016 Disease Congenital bile acid synthesis defect 1 MONDO C1843116 MONDO:0011906 607765 22 Apr 2020 Disease Congenital bile acid synthesis defect 2 MONDO C1856127 MONDO:0009339 235555 22 Apr 2020 Disease Congenital bile acid synthesis defect 4 MONDO C1858328 MONDO:0008967 214950 22 Apr 2020 Disease Congenital blindness Human Phenotype Ontology C0005754 HP:0007875 16 Feb 2016 Finding Congenital blue dot cataract C0344523 115660 16 Feb 2016 Disease congenital bony malformation 05 Sep 2019 Finding Congenital bowing of long bones MONDO C1859394 MONDO:0008882 211355 13 May 2020 Disease Congenital brain dysgenesis due to glutamine synthetase deficiency MONDO C1864910 MONDO:0012393 610015 17 Apr 2020 Disease Congenital bronchobiliary fistula C4304716 16 Feb 2016 Disease Congenital candidiasis MONDO C0343875 MONDO:0023415 04 Jun 2020 Infectious disease Congenital cardiomyopathy CN239812 30 Dec 2016 Disease Congenital cardiovascular malformations 16 Feb 2016 Disease Congenital cardiovascular shunt 16 Feb 2016 Disease Congenital cataract Human Phenotype Ontology C0009691 HP:0000519 24 Jul 2018 Disease Congenital cataract-ichthyosis syndrome MONDO C1859315 MONDO:0008924 212400 17 Apr 2020 Disease Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome MONDO CN258569 MONDO:0033853 17 Apr 2020 Disease Congenital cataracts, hearing loss, and neurodegeneration NCBI curation C3280965 614482 16 Feb 2016 Disease Congenital cataracts-facial dysmorphism-neuropathy syndrome MONDO C1858726 MONDO:0011402 604168 17 Apr 2020 Disease Congenital central hypoventilation NCBI curation C1275808 209880 16 Feb 2016 Disease Congenital cerebellar ataxia due to rnu12 mutation MONDO CN258570 MONDO:0033717 17 Apr 2020 Disease Congenital cerebellar hypoplasia Human Phenotype Ontology C0266470 HP:0001321 213000 10 Apr 2018 Disease Congenital cholesteatoma NCBI curation C0395886 604183 16 Feb 2016 Disease congenital chromosomal abnormality 05 Sep 2019 Finding Congenital chromosomal disease NCBI curation C0008626 16 Feb 2016 Disease Congenital chylothorax C0340014 603523 16 Feb 2016 Disease Congenital cleft nose NCBI curation C3887497 210400 16 Feb 2016 Disease congenital club feet 05 Sep 2019 Finding Congenital combined immunodeficiency MONDO C0494261 MONDO:0015131 28 May 2020 Disease Congenital communicating hydrocephalus MONDO CN202466 MONDO:0017116 17 Apr 2020 Disease Congenital complete agenesis of pericardium MONDO CN207315 MONDO:0020454 17 Apr 2020 Disease congenital compression facies 05 Sep 2019 Finding Congenital conductive hearing impairment Human Phenotype Ontology C4021537 HP:0008591 16 Feb 2016 Finding Congenital contractural arachnodactyly NCBI curation C0220668 121050 16 Feb 2016 Disease Congenital contracture Human Phenotype Ontology C0332878 HP:0002803 16 Feb 2016 Finding Congenital contractures 16 Feb 2016 Disease Congenital contractures of the limbs and face, hypotonia, and developmental delay NCBI curation C4225398 616266 16 Feb 2016 Disease Congenital cornea plana CN205253 25 Jul 2019 Disease Congenital corneal dystrophy Human Phenotype Ontology C1611195 HP:0008005 16 Feb 2016 Finding congenital corneal malformations 05 Sep 2019 Finding Congenital corneal opacities, cornea guttata, and corectopia NCBI curation C1837970 608484 16 Feb 2016 Disease Congenital coronary artery aneurysm MONDO C0340627 MONDO:0019825 17 Apr 2020 Disease Congenital coronary artery anomaly MONDO MONDO:0001389 17 Apr 2020 Disease Congenital craniofacial dysostosis Human Phenotype Ontology C4024667 HP:0008497 16 Feb 2016 Finding Congenital craniosynostosis maternal hyperthyroiditis 16 Feb 2016 Disease Congenital curved nail of fourth toe Human Phenotype Ontology C4024684 HP:0008393 16 Feb 2016 Finding Congenital cystic adenomatoid malformation of the lung Human Phenotype Ontology C0010668 HP:0010959 16 Feb 2016 Finding Congenital cystic eye CN265992 16 Feb 2016 Disease Congenital cystic eye multiple ocular and intracranial anomalies 16 Feb 2016 Disease congenital cystic lung C0158641 18 Jan 2019 Finding Congenital cytomegalovirus 16 Feb 2016 Disease Congenital deafness NCBI curation C0339789 16 Feb 2016 Disease Congenital defect of folate absorption C0342705 229050 16 Feb 2016 Disease Congenital defect of the pericardium Human Phenotype Ontology C4023261 HP:0011628 16 Feb 2016 Finding Congenital defects C0220810 16 Feb 2016 Finding Congenital deformities of fingers MONDO CN227130 MONDO:0017428 17 Apr 2020 Disease Congenital diaphragamitc hernia CN239569 16 Dec 2016 Finding Congenital diaphragmatic hernia Human Phenotype Ontology C0235833 HP:0000776 142340 16 Feb 2016 Finding Congenital diarrhea NCBI curation CN232319 16 Feb 2016 Disease Congenital dislocation of the patella 16 Feb 2016 Disease Congenital disorder of deglycosylation NCBI curation C3808991 615273 24 Aug 2016 Disease Congenital disorder of glycosylation Orphanet C0282577 ORPHA137 16 Feb 2016 Disease Congenital disorder of glycosylation type 1C NCBI curation C2930997 603147 26 Jun 2020 Disease Congenital disorder of glycosylation type 1E C1837396 608799 16 Feb 2016 Disease Congenital disorder of glycosylation type 1M NCBI curation C1835849 610768 16 Feb 2016 Disease Congenital disorder of glycosylation type 1N NCBI curation C2677590 612015 16 Feb 2016 Disease Congenital disorder of glycosylation type 1O NCBI curation C2752007 612937 16 Feb 2016 Disease Congenital disorder of glycosylation type 1P NCBI curation C3150913 613661 16 Feb 2016 Disease Congenital disorder of glycosylation type 1Q NCBI curation C4317224 612379 16 Feb 2016 Disease Congenital disorder of glycosylation type 1t NCBI curation C2752015 614921 16 Feb 2016 Disease Congenital disorder of glycosylation type 1u NCBI curation C3554385 615042 16 Feb 2016 Disease Congenital disorder of glycosylation type 1w NCBI curation C3810062 615596 16 Feb 2016 Disease Congenital disorder of glycosylation type 1x NCBI curation C2931007 615597 16 Feb 2016 Disease Congenital disorder of glycosylation type 1y NCBI curation C4012395 300934 16 Feb 2016 Disease Congenital disorder of glycosylation type 2B NCBI curation C1853736 606056 16 Feb 2016 Disease Congenital disorder of glycosylation type 2F NCBI curation C1970344 603585 16 Feb 2016 Disease Congenital disorder of glycosylation type 2H NCBI curation C1970021 611182 16 Feb 2016 Disease Congenital disorder of glycosylation type 2i NCBI curation C3150876 613612 16 Feb 2016 Disease Congenital disorder of glycosylation type 2J NCBI curation C3150736 613489 16 Feb 2016 Disease Congenital disorder of glycosylation type 2k NCBI curation C3553571 614727 16 Feb 2016 Disease Congenital disorder of glycosylation type 2L NCBI curation C3553230 614576 16 Feb 2016 Disease Congenital disorder of glycosylation type II NCBI curation CN263205 25 Jan 2020 Disease Congenital disorder of glycosylation type Ir NCBI curation C3281084 614507 06 Sep 2018 Disease Congenital disorder of glycosylation with cardiac malformation as a major feature MONDO CN227306 MONDO:0018290 17 Apr 2020 Disease Congenital disorder of glycosylation with deafness as a major feature MONDO CN227311 MONDO:0018295 17 Apr 2020 Disease Congenital disorder of glycosylation with defective fucosylation OMIM phenotypic series C4693905 PS618005 24 Feb 2019 Disease Congenital disorder of glycosylation with defective fucosylation 1 NCBI curation CN258220 618005 24 Feb 2019 Disease Congenital disorder of glycosylation with defective fucosylation 2 NCBI curation C5193028 618324 24 Feb 2019 Disease Congenital disorder of glycosylation with developmental anomaly MONDO CN227312 MONDO:0018296 17 Apr 2020 Disease Congenital disorder of glycosylation with dilated cardiomyopathy MONDO CN227305 MONDO:0018289 17 Apr 2020 Disease Congenital disorder of glycosylation with epilepsy as a major feature MONDO CN227303 MONDO:0018287 17 Apr 2020 Disease Congenital disorder of glycosylation with hepatic involvement MONDO CN227304 MONDO:0018288 17 Apr 2020 Disease Congenital disorder of glycosylation with intestinal involvement MONDO CN227307 MONDO:0018291 17 Apr 2020 Disease Congenital disorder of glycosylation with nephropathy as a major feature MONDO CN227310 MONDO:0018294 17 Apr 2020 Disease Congenital disorder of glycosylation with neurological involvement MONDO CN227300 MONDO:0018284 17 Apr 2020 Disease Congenital disorder of glycosylation with skin involvement MONDO CN227309 MONDO:0018293 17 Apr 2020 Disease Congenital disorder of glycosylation, type I NCBI curation C4700504 25 Jan 2020 Disease Congenital disorder of glycosylation, type Ia NCBI curation C0349653 212065 25 Jan 2020 Disease Congenital disorder of glycosylation, type Iaa NCBI curation C4310727 617082 25 Jan 2020 Disease Congenital disorder of glycosylation, type Ibb NCBI curation C4693133 25 Jan 2020 Disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc OMIM C5231393 301031 301031 11 Sep 2019 Disease Congenital disorder of glycosylation, type IIa NCBI curation C2931008 212066 25 Jan 2020 Disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf, MODIFIER OF 16 Feb 2016 Disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq OMIM C4479353 617395 617395 07 Apr 2017 Disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr OMIM CN280849 301045 301045 23 Apr 2020 Disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt OMIM CN280941 618885 618885 22 May 2020 Disease Congenital disorder of glycosylation-related bone disorder MONDO CN227308 MONDO:0018292 17 Apr 2020 Disease Congenital disorders of glycosylation type II NCBI curation CN234782 08 Apr 2016 Disease Congenital dyserythropoietic anemia Orphanet C0002876 ORPHA85 25 May 2016 Disease Congenital dyserythropoietic anemia type type 1B MONDO C3810185 MONDO:0014285 615631 22 Apr 2020 Disease Congenital dyserythropoietic anemia, type I C0271933 224120 16 Feb 2016 Disease Congenital dyserythropoietic anemia, type II C1306589 224100 16 Feb 2016 Disease Congenital dyserythropoietic anemia, type III C0271934 105600 16 Feb 2016 Disease Congenital dyserythropoietic anemia, type IV NCBI curation C3150926 613673 25 May 2016 Disease Congenital earlobe sinuses Human Phenotype Ontology C1969394 HP:0004461 16 Feb 2016 Finding Congenital ectodermal dysplasia with hearing loss 16 Feb 2016 Disease Congenital ectopic pupil C0271135 129750 16 Feb 2016 Disease Congenital ectropion MONDO C0266578 MONDO:0020161 17 Apr 2020 Disease Congenital ectropion uveae MONDO CN227665 MONDO:0019630 17 Apr 2020 Disease Congenital elbow dislocation MONDO C0265561 MONDO:0017469 17 Apr 2020 Disease Congenital elbow dislocation, bilateral MONDO CN203295 MONDO:0017559 17 Apr 2020 Disease Congenital elbow dislocation, unilateral MONDO CN203294 MONDO:0017558 17 Apr 2020 Disease Congenital elevation of scapula C0152438 184400 16 Feb 2016 Disease Congenital encephalopathy Human Phenotype Ontology C4024917 HP:0007239 16 Feb 2016 Finding Congenital enterocyte heparan sulfate deficiency MONDO C4511238 MONDO:0015171 17 Apr 2020 Disease Congenital enteropathy involving intestinal mucosa development MONDO CN226619 MONDO:0015182 17 Apr 2020 Disease Congenital enterovirus infection MONDO C4274223 MONDO:0017375 04 Jun 2020 Infectious disease Congenital entropion MONDO C0266579 MONDO:0020159 17 Apr 2020 Disease Congenital Epstein-Barr virus infection MONDO C4274357 MONDO:0019094 04 Jun 2020 Infectious disease Congenital epulis MONDO C0376319 MONDO:0015528 17 Apr 2020 Disease Congenital erosive and vesicular dermatosis MONDO C4751164 MONDO:0016503 17 Apr 2020 Disease Congenital erythropoietic porphyria NCBI curation C0162530 263700 16 Feb 2016 Disease Congenital esophageal diverticulum MONDO C0266133 MONDO:0019620 17 Apr 2020 Disease Congenital exfoliative erythroderma Human Phenotype Ontology C4024892 HP:0007381 16 Feb 2016 Finding Congenital exotropia NCBI curation C1282374 16 Feb 2016 Finding Congenital extraocular muscle anomaly Human Phenotype Ontology C4024823 HP:0007647 16 Feb 2016 Finding Congenital eyelid retraction MONDO C4274470 MONDO:0020465 17 Apr 2020 Disease Congenital facial diplegia Human Phenotype Ontology C0853240 HP:0007188 16 Feb 2016 Finding Congenital fascial dystrophy C1302740 228020 16 Feb 2016 Disease congenital femoral anteversion 05 Sep 2019 Finding Congenital fiber-type disproportion CN235628 24 Mar 2016 Finding Congenital fibre type disproportion 20 Jun 2019 Finding Congenital fibrinogen deficiency MONDO C2062367 MONDO:0018060 22 Apr 2020 Disease Congenital fibrosis of extraocular muscles Human Phenotype Ontology C1302995 HP:0001491 16 Feb 2016 Disease Congenital fibrosis of the extraocular muscles NCBI curation CN043677 16 Feb 2016 Disease Congenital Fibrosis of the Extraocular Muscles 1B NCBI curation CN120300 16 Feb 2016 Disease Congenital Fibrosis of the Extraocular Muscles 4 NCBI curation CN120301 16 Feb 2016 Disease Congenital finger flexion contractures Human Phenotype Ontology C1393871 HP:0005879 16 Feb 2016 Finding Congenital foot contraction deformities Human Phenotype Ontology C4025123 HP:0005853 16 Feb 2016 Finding Congenital foot contractures Human Phenotype Ontology C4025144 HP:0005745 16 Feb 2016 Finding Congenital gastrointestinal malformations 01 Nov 2018 Finding Congenital generalized fibromatosis 16 Feb 2016 Disease Congenital generalized hypercontractile muscle stiffness syndrome MONDO CN776883 MONDO:0018780 17 Apr 2020 Disease Congenital generalized lipodystrophy (disease) MONDO C0221032 MONDO:0006536 17 Apr 2020 Disease Congenital generalized lipodystrophy type 1 C1720862 608594 16 Feb 2016 Disease Congenital generalized lipodystrophy type 2 C1720863 269700 16 Feb 2016 Disease Congenital genu flexum MONDO CN203297 MONDO:0017561 17 Apr 2020 Disease Congenital genu recurvatum MONDO C0152235 MONDO:0017560 17 Apr 2020 Disease Congenital Gerbode defect MONDO CN227871 MONDO:0020428 17 Apr 2020 Disease Congenital giant megaureter 16 Feb 2016 Disease Congenital glaucoma NCBI curation C2981140 16 Feb 2016 Disease Congenital glucose-galactose malabsorption NCBI curation C0268186 606824 16 Feb 2016 Disease Congenital goiter Human Phenotype Ontology C0349476 HP:0008251 16 Feb 2016 Finding Congenital granular cell tumor MONDO MONDO:0004527 17 Apr 2020 Disease congenital hamartoma of chest wall 05 Sep 2019 Finding Congenital healed cleft lip NCBI curation C1833563 16 Feb 2016 Disease Congenital heart anomalies CN236429 13 May 2016 Finding Congenital heart block C0149530 234700 16 Feb 2016 Disease congenital heart defect 06 Sep 2019 Finding Congenital heart defect-round face-developmental delay syndrome MONDO C0796162 MONDO:0010039 270460 17 Apr 2020 Disease Congenital heart defects CN169364 16 Feb 2016 Disease Congenital heart defects 1, nonsyndromic, 1 CN239150 02 Dec 2016 Disease Congenital heart defects and ectodermal dysplasia NCBI curation C4479250 617364 20 Jun 2017 Disease CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME OMIM C4539857 617602 617602 04 Aug 2017 Disease Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder NCBI curation C4479246 617360 20 Jun 2017 Disease Congenital heart defects, hamartomas of tongue, and polysyndactyly NCBI curation C1857587 217085 28 May 2020 Disease Congenital heart defects, multiple types MONDO MONDO:0000119 17 Apr 2020 Disease Congenital heart defects, multiple types, 1, X-linked NCBI curation C3151867 16 Feb 2016 Disease Congenital heart defects, multiple types, 2 NCBI curation C3554279 614980 24 Aug 2016 Disease Congenital heart defects, multiple types, 3 NCBI curation C3554194 614954 16 Feb 2016 Disease Congenital heart defects, multiple types, 4 NCBI curation C4014310 615779 16 Feb 2016 Disease CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 OMIM C4693563 617912 617912 18 Mar 2018 Disease CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7 OMIM CN263280 618780 618780 19 Feb 2020 Disease Congenital heart defects, nonsyndromic, 1, X-linked CN259031 13 Jun 2019 Disease Congenital heart desease 15 Mar 2018 Finding Congenital heart disease NCBI curation C0152021 16 Feb 2016 Disease Congenital heart disease (variable) NCBI curation C3805326 16 Mar 2018 Finding Congenital heart disease ptosis hypodontia craniostosis 16 Feb 2016 Disease Congenital heart disease radio ulnar synostosis mental retardation 16 Feb 2016 Disease Congenital heart disease, ventricular septum defect 15 Mar 2018 Finding Congenital heart malformation CN235221 19 Feb 2016 Finding Congenital hemangioma MONDO C0235753 MONDO:0018715 17 Apr 2020 Disease Congenital hematological disorder MONDO C3267032 MONDO:0009332 17 Apr 2020 Disease Congenital hemolytic anemia Human Phenotype Ontology C0002881 HP:0004804 16 Feb 2016 Disease Congenital hepatic fibrosis Human Phenotype Ontology C0009714 HP:0002612 16 Feb 2016 Disease Congenital hereditary endothelial dystrophy type I MONDO C1562945 MONDO:0020365 17 Apr 2020 Disease Congenital hereditary facial paralysis-variable hearing loss syndrome MONDO C4302592 MONDO:0017627 17 Apr 2020 Disease Congenital herpes simplex 16 Feb 2016 Disease Congenital herpes virus infection MONDO C4275250 MONDO:0042971 04 Jun 2020 Infectious disease congenital hip deformity 05 Sep 2019 Finding Congenital hip dislocation Human Phenotype Ontology C0019555 HP:0001374 04 Apr 2018 Finding Congenital horizontal nystagmus Human Phenotype Ontology C4551997 HP:0007859 16 Feb 2016 Finding Congenital Horner syndrome (disease) MONDO C1840475 MONDO:0007735 143000 17 Apr 2020 Disease Congenital human immunodeficiency virus infection NCBI curation C0520783 16 Feb 2016 Infectious disease Congenital hydrocephalus Orphanet C0020256 ORPHA2185 27 Sep 2018 Disease Congenital hydrocephalus 1 NCBI curation C3887608 236600 27 Sep 2018 Disease Congenital hydronephrosis MONDO C0266316 MONDO:0007741 22 Apr 2020 Disease Congenital hyperammonemia, type I C4082171 237300 16 Feb 2016 Disease Congenital hyperinsulinism 01 Nov 2018 Finding congenital hypertonia 05 Sep 2019 Disease Congenital hypertrophic pyloric stenosis NCBI curation C0700639 20 Jan 2020 Disease Congenital hypertrophy of left ventricle Human Phenotype Ontology C1855901 HP:0005129 16 Feb 2016 Finding Congenital hypertrophy of retinal pigment epithelium Human Phenotype Ontology C0339555 HP:0007649 16 Feb 2016 Finding Congenital hypogonadotropic hypogonadism Orphanet C3899503 ORPHA174590 06 Jun 2018 Disease Congenital hypomyelinating neuropathy NCBI curation C0393818 01 Dec 2018 Disease Congenital hypomyelinating neuropathy 1, autosomal dominant NCBI curation CN257485 30 Nov 2018 Disease Congenital hypomyelinating neuropathy 1, autosomal recessive NCBI curation C4721436 605253 30 Nov 2018 Disease Congenital hypomyelinating neuropathy 2 NCBI curation C4722277 618184 01 Dec 2018 Disease Congenital hypomyelinating neuropathy 3 NCBI curation C4748608 618186 01 Dec 2018 Disease Congenital hypomyelination neuropathy 16 Feb 2016 Disease Congenital hypoparathyroidism Human Phenotype Ontology C1455734 HP:0008198 16 Feb 2016 Finding Congenital hypoplasia of aorta C0265892 30 Mar 2018 Finding Congenital hypoplasia of the mitral valve annulus MONDO C3165203 MONDO:0020399 17 Apr 2020 Disease Congenital hypothalamic hamartoma syndrome NCBI curation 16 Feb 2016 Disease Congenital hypothyroidism Human Phenotype Ontology C0010308 HP:0000851 16 Feb 2016 Disease Congenital hypothyroidism due to developmental anomaly MONDO CN227705 MONDO:0019853 17 Apr 2020 Disease Congenital hypothyroidism due to maternal intake of antithyroid drugs MONDO CN226922 MONDO:0016413 17 Apr 2020 Disease congenital hypothyroidismism 05 Sep 2019 Finding Congenital hypotonia C0270971 14 Mar 2017 Finding CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES OMIM C5193125 618494 618494 14 Jul 2019 Disease Congenital hypotrichosis milia 16 Feb 2016 Disease Congenital hypotrichosis with juvenile macular dystrophy MONDO C1832162 MONDO:0011107 601553 22 Apr 2020 Disease Congenital ichthyosiform erythroderma Human Phenotype Ontology C0079583 HP:0007431 16 Feb 2016 Finding Congenital ichthyosis of skin NCBI curation C0020758 16 Feb 2016 Disease Congenital ichthyosis, microcephalus, quadriplegia 16 Feb 2016 Disease Congenital ichthyosis-microcephalus-tetraplegia syndrome MONDO CN201361 MONDO:0016417 17 Apr 2020 Disease Congenital ichtyosiform erythroderma 16 Feb 2016 Disease congenital imperforate anus 05 Sep 2019 Finding Congenital Indifference to Pain C0002768 02 Dec 2016 Disease Congenital insensitivity to pain with hyperhidrosis MONDO CN201148 MONDO:0016319 17 Apr 2020 Disease Congenital insensitivity to pain with severe intellectual disability MONDO CN237749 MONDO:0018682 17 Apr 2020 Disease Congenital intestinal disease due to an enzymatic defect MONDO CN197523 MONDO:0015181 17 Apr 2020 Disease Congenital intestinal transport defect CN262424 15 Oct 2019 Disease Congenital intracerebral calcification Human Phenotype Ontology C4024966 HP:0006906 16 Feb 2016 Finding Congenital intrinsic factor deficiency CN279274 23 Aug 2019 Disease Congenital isolated hyperinsulinism MONDO MONDO:0019010 17 Apr 2020 Disease congenital kidney abnormality 05 Sep 2019 Finding Congenital knee dislocation Human Phenotype Ontology C0265669 HP:0005191 16 Feb 2016 Finding Congenital kyphoscoliosis Human Phenotype Ontology C0345392 HP:0008453 16 Feb 2016 Finding Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome MONDO CN258474 MONDO:0044643 17 Apr 2020 Disease Congenital lactase deficiency C0268179 223000 16 Feb 2016 Disease Congenital lactic acidosis Human Phenotype Ontology C4025276 HP:0004902 16 Feb 2016 Finding Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type MONDO C1857355 MONDO:0009069 220111 17 Apr 2020 Disease Congenital laryngeal abductor palsy NCBI curation C0396059 150260 16 Feb 2016 Disease Congenital laryngeal adductor palsy NCBI curation C0396060 150270 16 Feb 2016 Disease Congenital laryngeal palsy MONDO C0396058 MONDO:0015316 17 Apr 2020 Disease Congenital laryngeal stridor Human Phenotype Ontology C0265763 HP:0004886 16 Feb 2016 Finding Congenital left-sided heart lesions MONDO MONDO:0005584 17 Apr 2020 Disease Congenital lethal erythroderma MONDO C1856898 MONDO:0009198 227090 22 Apr 2020 Disease Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi NCBI curation C2752042 612918 16 Feb 2016 Disease Congenital livedo reticularis C0345419 219250 16 Feb 2016 Disease Congenital liver fibrosis CN281420 15 Mar 2018 Finding Congenital lobar emphysema NCBI curation C0265797 130710 16 Feb 2016 Disease Congenital localized absence of skin Human Phenotype Ontology C2673597 HP:0007383 16 Feb 2016 Finding Congenital long QT syndrome NCBI curation C1141890 16 Feb 2016 Disease Congenital macrodactylia NCBI curation C0265552 155500 16 Feb 2016 Disease Congenital macroorchidism Human Phenotype Ontology C4024650 HP:0008640 16 Feb 2016 Finding congenital malformation of circulatory system 05 Sep 2019 Finding congenital malformation of musculoskeletal system 05 Sep 2019 Finding congenital malformation of nervous system 05 Sep 2019 Finding congenital malformation of the ear 05 Sep 2019 Finding congenital malformation of the face and neck 05 Sep 2019 Finding congenital malformation of the fingers and hand 05 Sep 2019 Finding Congenital malformation of the great arteries Human Phenotype Ontology C0478012 HP:0011603 16 Feb 2016 Finding Congenital malformation of the left heart Human Phenotype Ontology C4022397 HP:0045017 16 Feb 2016 Finding Congenital malformation of the right heart Human Phenotype Ontology C4023219 HP:0011723 16 Feb 2016 Finding congenital malformation syndromes predominantly affecting facial appearance 05 Sep 2019 Finding congenital malformations 05 Sep 2019 Finding congenital malformations of corpus callosum 05 Sep 2019 Finding congenital malformations of pharynx 05 Sep 2019 Finding congenital malformations of spinal cord 05 Sep 2019 Finding congenital malformations of trachea 05 Sep 2019 Finding Congenital megacalycosis MONDO C0266317 MONDO:0019639 17 Apr 2020 Disease Congenital megalo-ureter 16 Feb 2016 Disease Congenital megalourethra Human Phenotype Ontology C4280800 HP:0030723 02 Apr 2017 Finding Congenital megaureter Human Phenotype Ontology C0266324 HP:0008676 16 Feb 2016 Finding Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization CN279280 27 Aug 2019 Disease Congenital mesoblastic nephroma Human Phenotype Ontology C1332965 HP:0100881 16 Feb 2016 Disease Congenital microcephaly Human Phenotype Ontology C2677180 HP:0011451 16 Feb 2016 Finding Congenital microthorax Human Phenotype Ontology C4025011 HP:0006647 16 Feb 2016 Finding Congenital microvillous atrophy C0341306 251850 16 Feb 2016 Disease Congenital miosis Human Phenotype Ontology C1303009 HP:0007728 156600 16 Feb 2016 Disease Congenital mitral malformation CN268520 16 Feb 2016 Disease Congenital mitral stenosis (disease) MONDO C0158618 MONDO:0020398 17 Apr 2020 Disease Congenital mitral valve agenesis MONDO CN227865 MONDO:0020403 17 Apr 2020 Disease Congenital mitral valve insufficiency MONDO C0158619 MONDO:0001298 17 Apr 2020 Disease Congenital mitral valve insufficiency and/or stenosis MONDO CN227697 MONDO:0019817 17 Apr 2020 Disease Congenital mixovirus 16 Feb 2016 Disease Congenital mumps CN281792 16 Feb 2016 Infectious disease Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies Orphanet CN417137 ORPHA352687 26 Aug 2017 Disease Congenital muscular dystrophy Human Phenotype Ontology C0699743 HP:0003741 16 Feb 2016 Disease Congenital muscular dystrophy due to partial LAMA2 deficiency NCBI curation C1842898 16 Feb 2016 Disease Congenital muscular dystrophy merosin-positive MONDO C1836133 MONDO:0012279 609456 22 Apr 2020 Disease Congenital muscular dystrophy syringomyelia 16 Feb 2016 Disease Congenital muscular dystrophy with cerebellar involvement MONDO C5190848 MONDO:0018277 17 Apr 2020 Disease Congenital muscular dystrophy with hyperlaxity MONDO C4706389 MONDO:0018281 17 Apr 2020 Disease Congenital muscular dystrophy with intellectual disability MONDO C5190846 MONDO:0018278 17 Apr 2020 Disease Congenital muscular dystrophy with rigid spine CN235626 24 Mar 2016 Disease Congenital muscular dystrophy without intellectual disability MONDO C5190847 MONDO:0018279 17 Apr 2020 Disease Congenital Muscular Dystrophy, alpha-dystroglycan related CN239202 02 Dec 2016 Disease Congenital Muscular Dystrophy, CHKB-related CN239234 02 Dec 2016 Disease Congenital Muscular Dystrophy, ITGA7-related CN239268 02 Dec 2016 Disease Congenital Muscular Dystrophy, LAMA2-related CN239326 02 Dec 2016 Disease Congenital muscular dystrophy, LMNA-related NCBI curation C2750785 613205 16 Feb 2016 Disease Congenital muscular dystrophy, producing arthrogryposis NCBI curation C1850865 253900 16 Feb 2016 Disease Congenital muscular dystrophy, unclassified CN071817 16 Feb 2016 Disease Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 NCBI curation C1847759 606612 16 Feb 2016 Disease Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 NCBI curation C3150413 613153 16 Feb 2016 Disease Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 NCBI curation C3150411 613150 16 Feb 2016 Disease Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 NCBI curation 16 Feb 2016 Disease Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 NCBI curation CN355827 16 Feb 2016 Disease Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 NCBI curation C3150414 613154 16 Feb 2016 Disease Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 NCBI curation C3553330 614643 16 Feb 2016 Disease Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 NCBI curation C3150415 613155 16 Feb 2016 Disease Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 NCBI curation C3150416 613156 16 Feb 2016 Disease Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 NCBI curation C3150412 613151 16 Feb 2016 Disease Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B5 NCBI curation CN068807 16 Feb 2016 Disease Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 NCBI curation C1837229 608840 16 Feb 2016 Disease Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4 NCBI curation C2751052 613152 16 Feb 2016 Disease Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 NCBI curation C4016970 16 Feb 2016 Disease Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome MONDO C1850864 MONDO:0009680 254000 17 Apr 2020 Disease Congenital muscular hypertrophy-cerebral syndrome C1802395 300590 16 Feb 2016 Disease Congenital muscular torticollis Human Phenotype Ontology C0079352 HP:0005988 16 Feb 2016 Finding Congenital myasthenic syndrome NCBI curation C0751882 16 Feb 2016 Disease Congenital myasthenic syndrome 12 NCBI curation C3552335 610542 26 Dec 2017 Disease Congenital myasthenic syndrome 13 NCBI curation C3553645 614750 13 Apr 2016 Disease Congenital myasthenic syndrome 1B, fast-channel NCBI curation C4225405 608930 13 Apr 2016 Disease Congenital myasthenic syndrome 4C MONDO C1837091 MONDO:0012157 608931 17 Apr 2020 Disease Congenital myasthenic syndrome with tubular aggregates NCBI curation CN228621 16 Feb 2016 Disease Congenital myasthenic syndrome, acetazolamide-responsive NCBI curation C3280112 614198 16 Feb 2016 Disease Congenital Myasthenic Syndrome, Dominant/Recessive CN239246 02 Dec 2016 Disease Congenital Myasthenic Syndrome, Recessive CN239337 02 Dec 2016 Disease Congenital myasthenic syndromes with glycosylation defect MONDO CN204541 MONDO:0018144 17 Apr 2020 Disease Congenital mydriasis NCBI curation C1303010 159420 16 Feb 2016 Disease Congenital myopathy NCBI curation C0270960 255300 16 Feb 2016 Disease Congenital myopathy with cores MONDO CN221584 MONDO:0015765 22 Apr 2020 Disease Congenital myopathy with excess of thin filaments MONDO C3711389 MONDO:0020342 161800 17 Apr 2020 Disease Congenital myopathy with fiber type disproportion C0546264 255310 16 Feb 2016 Disease Congenital myopathy with myasthenic-like onset MONDO C4706390 MONDO:0018528 17 Apr 2020 Disease Congenital myopathy with reduced type 2 muscle fibers MONDO C5193081 MONDO:0034109 618414 17 Apr 2020 Disease Congenital myopathy, Paradas type MONDO CN200729 MONDO:0016049 17 Apr 2020 Disease Congenital myopia Human Phenotype Ontology C1854684 HP:0008012 16 Feb 2016 Finding Congenital myotonia, autosomal dominant form NCBI curation C2936781 160800 16 Feb 2016 Disease Congenital myotonia, autosomal recessive form C0751360 255700 16 Feb 2016 Disease Congenital myotonic dystrophy C0410226 16 Feb 2016 Disease Congenital NAD deficiency disorder CN241975 13 Apr 2017 Finding Congenital narrowing of cervical spinal canal MONDO C4749275 MONDO:0019357 17 Apr 2020 Disease Congenital nasal pyriform aperture stenosis with holoprosencephaly MONDO MONDO:0015569 17 Apr 2020 Disease Congenital nasolacrimal duct obstruction C0155247 18 Jan 2019 Finding Congenital nemaline myopathy MONDO CN237772 MONDO:0018701 17 Apr 2020 Disease Congenital nephrotic syndrome Human Phenotype Ontology C3501848 HP:0008677 16 Feb 2016 Finding Congenital nervous system disorder MONDO MONDO:0002320 17 Apr 2020 Disease Congenital neuroblastoma Human Phenotype Ontology C4024986 HP:0006742 16 Feb 2016 Finding Congenital neutropenia Human Phenotype Ontology C0340970 HP:0005549 02 Oct 2018 Disease Congenital non-communicating hydrocephalus MONDO C4546092 MONDO:0017117 17 Apr 2020 Disease Congenital nonbullous ichthyosiform erythroderma Human Phenotype Ontology C0079154 HP:0007479 16 Feb 2016 Finding Congenital nonprogressive myopathy with Moebius and Robin sequences C1850746 254940 16 Feb 2016 Disease Congenital nonspherocytic hemolytic anemia MONDO C0002882 MONDO:0006506 17 Apr 2020 Disease Congenital nuclear cataract NCBI curation C0158551 16 Feb 2016 Finding Congenital nystagmus Human Phenotype Ontology C0700501 HP:0006934 16 Feb 2016 Finding Congenital ocular coloboma NCBI curation C0009363 16 Feb 2016 Disease Congenital oculomotor nerve palsy MONDO CN237629 MONDO:0018599 17 Apr 2020 Disease Congenital omphalocele NCBI curation C0795690 164750 16 Feb 2016 Disease Congenital omphalocele NCBI curation C0795690 310980 16 Feb 2016 Disease Congenital onset 17 Jul 2019 Finding Congenital onset contractures 19 Jul 2018 Finding Congenital onychodystrophy Human Phenotype Ontology C1393669 HP:0008394 16 Feb 2016 Finding Congenital or acquired MONDO MONDO:0021139 17 Apr 2020 Disease Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome MONDO C1850184 MONDO:0009803 259410 17 Apr 2020 Disease Congenital palmoplantar keratodermia Human Phenotype Ontology C4024837 HP:0007597 16 Feb 2016 Finding Congenital palmoplantar keratosis Human Phenotype Ontology C1855633 HP:0007545 16 Feb 2016 Finding Congenital pancreatic cyst MONDO C0341480 MONDO:0017783 17 Apr 2020 Disease Congenital panfollicular nevus Human Phenotype Ontology C4476799 HP:0025471 04 Apr 2018 Finding Congenital partial agenesis of pericardium MONDO CN207316 MONDO:0020455 17 Apr 2020 Disease Congenital patella dislocation MONDO C0345360 MONDO:0017471 17 Apr 2020 Disease Congenital patella dislocation, bilateral MONDO MONDO:0017563 17 Apr 2020 Disease Congenital patella dislocation, unilateral MONDO MONDO:0017562 17 Apr 2020 Disease Congenital patent ductus arteriosus aneurysm MONDO C4706391 MONDO:0020412 17 Apr 2020 Disease Congenital pericardium anomaly MONDO C0685699 MONDO:0017300 17 Apr 2020 Disease Congenital peripheral neuropathy Human Phenotype Ontology C4024967 HP:0006903 16 Feb 2016 Finding Congenital plasminogen activator inhibitor type 1 deficiency MONDO C2750067 MONDO:0013227 613329 17 Apr 2020 Disease Congenital plumonary valve stenosis CN235520 15 Mar 2016 Finding Congenital portosystemic shunt MONDO C1290495 MONDO:0018811 17 Apr 2020 Disease Congenital posterior occipital alopecia Human Phenotype Ontology C4024850 HP:0007534 16 Feb 2016 Finding Congenital posterior urethral valve Human Phenotype Ontology C0238506 HP:0010957 16 Feb 2016 Finding Congenital primary adrenocortical hypofunction NCBI curation C0271740 103230 16 Feb 2016 Disease Congenital primary aphakia Human Phenotype Ontology C1853230 HP:0007707 610256 04 Apr 2018 Disease Congenital primary megaureter MONDO C4273898 MONDO:0018960 17 Apr 2020 Disease Congenital primary megaureter, nonrefluxing and unobstructed form MONDO CN201635 MONDO:0016552 17 Apr 2020 Disease Congenital primary megaureter, obstructed form MONDO CN201633 MONDO:0016550 17 Apr 2020 Disease Congenital primary megaureter, refluxing form MONDO CN201634 MONDO:0016551 17 Apr 2020 Disease Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome MONDO CN258576 MONDO:0033683 17 Apr 2020 Disease Congenital pseudarthrosis of clavicle C0265565 118980 16 Feb 2016 Disease Congenital pseudoarthrosis 16 Feb 2016 Disease Congenital pseudoarthrosis of the clavicle Human Phenotype Ontology C0426811 HP:0006585 16 Feb 2016 Finding Congenital pseudoarthrosis of the femur MONDO CN203205 MONDO:0017463 17 Apr 2020 Disease Congenital pseudoarthrosis of the fibula MONDO CN203206 MONDO:0017464 17 Apr 2020 Disease Congenital pseudoarthrosis of the limbs MONDO CN199668 MONDO:0015525 17 Apr 2020 Disease Congenital pseudoarthrosis of the radius MONDO CN203207 MONDO:0017465 17 Apr 2020 Disease Congenital pseudoarthrosis of the tibia MONDO C0265661 MONDO:0017462 17 Apr 2020 Disease Congenital pseudoarthrosis of the ulna MONDO CN203208 MONDO:0017466 17 Apr 2020 Disease Congenital ptosis Human Phenotype Ontology C0266573 HP:0007970 16 Feb 2016 Finding Congenital pulmonary airway malformation type 0 MONDO CN202766 MONDO:0017248 17 Apr 2020 Disease Congenital pulmonary airway malformation type 1 MONDO CN202767 MONDO:0017249 17 Apr 2020 Disease Congenital pulmonary airway malformation type 2 MONDO CN202768 MONDO:0017250 17 Apr 2020 Disease Congenital pulmonary airway malformation type 3 MONDO CN202769 MONDO:0017251 17 Apr 2020 Disease Congenital pulmonary airway malformation type 4 MONDO CN202770 MONDO:0017252 17 Apr 2020 Disease Congenital pulmonary alveolar proteinosis 16 Feb 2016 Disease Congenital pulmonary fibrosis NCBI curation C1397339 16 Feb 2016 Disease Congenital pulmonary insufficiency C0265833 15 Mar 2016 Finding Congenital pulmonary lymphangiectasia MONDO C1849554 MONDO:0009933 265300 22 Apr 2020 Disease Congenital pulmonary sequestration MONDO C4020703 MONDO:0017843 17 Apr 2020 Disease Congenital pulmonary veins anomaly MONDO CN227855 MONDO:0020295 17 Apr 2020 Disease Congenital pulmonary venous return anomaly MONDO C0265916 MONDO:0017705 17 Apr 2020 Disease Congenital pulmonic valve stenosis CN235521 15 Mar 2016 Finding Congenital pyloric atresia Human Phenotype Ontology C4025327 HP:0004399 16 Feb 2016 Finding Congenital renal artery stenosis MONDO C0495523 MONDO:0019993 17 Apr 2020 Disease Congenital retinal arteriovenous communication MONDO CN204543 MONDO:0018145 17 Apr 2020 Disease congenital sacral dimple 05 Sep 2019 Finding Congenital scoliosis C0559260 24 Mar 2016 Finding Congenital secondary polycythemia MONDO CN226953 MONDO:0016540 17 Apr 2020 Disease Congenital secretory diarrhea MONDO C0267661 MONDO:0045032 17 Apr 2020 Disease Congenital secretory diarrhea, chloride type C0267662 214700 16 Feb 2016 Disease Congenital secretory diarrhea, sodium type C0267663 270420 16 Feb 2016 Disease Congenital sensorineural hearing impairment Human Phenotype Ontology C1865866 HP:0008527 16 Feb 2016 Finding Congenital sensory neuropathy with selective loss of small myelinated fibers C0020075 608654 16 Feb 2016 Disease Congenital septal defect C0018816 16 Feb 2016 Finding Congenital short bowel syndrome, X-linked NCBI curation C3806579 16 Feb 2016 Disease Congenital short femur 16 Feb 2016 Disease Congenital shortened small intestine Human Phenotype Ontology C4293687 HP:0030889 02 Apr 2017 Finding Congenital shoulder dislocation MONDO C0265562 MONDO:0017468 17 Apr 2020 Disease Congenital sialidosis type 2 MONDO CN206606 MONDO:0019682 17 Apr 2020 Disease Congenital smooth muscle hamartoma MONDO C0406819 MONDO:0016986 17 Apr 2020 Disease Congenital Sodium Diarrhea 19 Apr 2019 Finding Congenital stapes ankylosis Human Phenotype Ontology C1866657 HP:0007943 16 Feb 2016 Finding Congenital stationary night blindness Human Phenotype Ontology C0339535 HP:0007642 16 Feb 2016 Disease Congenital stationary night blindness with abnormal fundus Human Phenotype Ontology C4073106 HP:0030639 16 Feb 2016 Finding Congenital stationary night blindness with normal fundus Human Phenotype Ontology C4073105 HP:0030638 16 Feb 2016 Finding Congenital stationary night blindness, autosomal dominant 1 NCBI curation C1864869 610445 16 Feb 2016 Disease Congenital stationary night blindness, autosomal dominant 2 NCBI curation C1876182 163500 16 Feb 2016 Disease Congenital stationary night blindness, autosomal dominant 3 NCBI curation C1864870 610444 16 Feb 2016 Disease Congenital Stationary Night Blindness, Dominant CN239263 02 Dec 2016 Disease Congenital Stationary Night Blindness, Recessive CN239273 02 Dec 2016 Disease Congenital stationary night blindness, type 1A NCBI curation C3495587 310500 16 Feb 2016 Disease Congenital stationary night blindness, type 1B NCBI curation C1850362 257270 16 Feb 2016 Disease Congenital stationary night blindness, type 1C NCBI curation C2750747 613216 16 Feb 2016 Disease Congenital stationary night blindness, type 1D NCBI curation C3151193 613830 16 Feb 2016 Disease Congenital stationary night blindness, type 1E NCBI curation C3281215 614565 16 Feb 2016 Disease Congenital stationary night blindness, type 1F NCBI curation C3554399 615058 16 Feb 2016 Disease Congenital stationary night blindness, type 2A NCBI curation C1848172 300071 16 Feb 2016 Disease Congenital stationary night blindness, type 2A, severe NCBI curation C4016457 16 Feb 2016 Disease Congenital stationary night blindness, type 2B NCBI curation C4041558 610427 16 Feb 2016 Disease Congenital stationary night blindness, X-linked NCBI curation CN043584 16 Feb 2016 Disease Congenital stenosis of aqueduct of sylvius C0266476 18 Jan 2019 Finding Congenital stenosis of cervical medullary canal 16 Feb 2016 Disease Congenital stenosis of pulmonary valve C0162164 15 Mar 2016 Finding Congenital stenosis of the inferior vena cava MONDO CN207311 MONDO:0020451 17 Apr 2020 Disease Congenital strabismus Human Phenotype Ontology C0521579 HP:0000487 16 Feb 2016 Finding Congenital Stromal Corneal Dystrophy GeneReviews C1864738 NBK2690 610048 16 Feb 2016 Disease Congenital structural myopathy MONDO C0752282 MONDO:0002921 17 Apr 2020 Disease Congenital subglottic stenosis MONDO C0396051 MONDO:0015395 17 Apr 2020 Disease Congenital sucrase-isomaltase deficiency with minimal starch tolerance MONDO CN203503 MONDO:0017619 17 Apr 2020 Disease Congenital sucrase-isomaltase deficiency with starch and lactose intolerance MONDO CN203505 MONDO:0017621 17 Apr 2020 Disease Congenital sucrase-isomaltase deficiency with starch intolerance MONDO CN203502 MONDO:0017618 17 Apr 2020 Disease Congenital sucrase-isomaltase deficiency without starch intolerance MONDO CN203504 MONDO:0017620 17 Apr 2020 Disease Congenital sucrase-isomaltase deficiency without sucrose intolerance MONDO CN203506 MONDO:0017622 17 Apr 2020 Disease Congenital supravalvular mitral ring MONDO CN227862 MONDO:0020400 17 Apr 2020 Disease congenital supravalvular pulmonary stenosis C0265832 18 Jan 2019 Finding Congenital symmetrical palmoplantar keratosis Human Phenotype Ontology C1855459 HP:0007553 16 Feb 2016 Finding Congenital syndromic ciliopathy 15 Mar 2018 Finding Congenital syphilis MONDO C0039131 MONDO:0005714 04 Jun 2020 Infectious disease Congenital systemic arteriovenous fistula MONDO C5191839 MONDO:0016078 17 Apr 2020 Disease Congenital systemic veins anomaly MONDO CN227182 MONDO:0017710 17 Apr 2020 Disease Congenital T-cell immunodeficiency MONDO C1333147 MONDO:0001222 17 Apr 2020 Disease Congenital talipes calcaneovalgus Human Phenotype Ontology C4551629 HP:0005850 16 Feb 2016 Finding Congenital temporomandibular joint ankylosis MONDO C4706319 MONDO:0016220 17 Apr 2020 Disease Congenital thrombocytopenia Human Phenotype Ontology C0272278 HP:0001905 16 Feb 2016 Finding Congenital thyroid malformation without hypothyroidism MONDO CN227709 MONDO:0019859 17 Apr 2020 Disease Congenital titinopathy 20 Feb 2019 Disease Congenital torticollis 16 Feb 2016 Disease Congenital total cataract NCBI curation C0266539 16 Feb 2016 Disease Congenital total pulmonary venous return anomaly MONDO C4551904 MONDO:0007130 106700 17 Apr 2020 Disease Congenital toxoplasmosis MONDO C0040560 MONDO:0005715 04 Jun 2020 Infectious disease Congenital tracheobronchomegaly 16 Feb 2016 Disease Congenital tracheomalacia C0392109 16 Feb 2016 Disease congenital tricuspid atresia 05 Sep 2019 Finding Congenital tricuspid malformation MONDO CN227851 MONDO:0020289 17 Apr 2020 Disease Congenital tricuspid stenosis MONDO C0265836 MONDO:0019813 17 Apr 2020 Disease Congenital trigeminal anesthesia MONDO C1852541 MONDO:0007384 122450 17 Apr 2020 Disease Congenital trochlear nerve palsy MONDO CN227838 MONDO:0020256 17 Apr 2020 Disease Congenital tufted angioma CN252650 12 Jul 2018 Disease Congenital unguarded mitral orifice MONDO CN227863 MONDO:0020401 17 Apr 2020 Disease Congenital unilateral absence of vas deferens 09 Oct 2019 Finding Congenital unilateral pulmonary hypoplasia 16 Feb 2016 Disease Congenital upper palpebral retraction MONDO MONDO:0020170 17 Apr 2020 Disease Congenital urachal anomaly MONDO C1739100 MONDO:0018565 17 Apr 2020 Disease Congenital uterine anomaly NCBI curation C0266383 192000 16 Feb 2016 Disease Congenital vagal hyperreflexivity 16 Feb 2016 Disease Congenital valvular dysplasia MONDO MONDO:0015989 17 Apr 2020 Disease Congenital varicella syndrome C0343560 16 Feb 2016 Infectious disease Congenital vascular bone syndrome MONDO CN201585 MONDO:0016524 17 Apr 2020 Disease Congenital vascular malformation MONDO C1961121 MONDO:0024287 17 Apr 2020 Disease Congenital velopharyngeal incompetence MONDO C0042454 MONDO:0008180 167500 17 Apr 2020 Disease Congenital vertebral-cardiac-renal anomalies syndrome MONDO CN258631 MONDO:0020831 17 Apr 2020 Disease Congenital vertical talus, bilateral MONDO C1860446 MONDO:0017547 17 Apr 2020 Disease Congenital vertical talus, unilateral MONDO CN203282 MONDO:0017546 17 Apr 2020 Disease Congenital visual impairment Human Phenotype Ontology HP:0007758 16 Feb 2016 Finding Congenital vitreoretinal dysplasia MONDO MONDO:0020247 17 Apr 2020 Disease Congenitally corrected transposition of the great arteries Human Phenotype Ontology C0344616 HP:0011540 16 Feb 2016 Disease Congenitally corrected transposition of the great arteries with ventricular septal defect Human Phenotype Ontology C4023272 HP:0011605 16 Feb 2016 Finding Congenitally short costocoracoid ligament MONDO C1852523 MONDO:0007388 122580 22 Apr 2020 Disease Congenitally uncorrected transposition of the great arteries with cardiac malformation MONDO CN201102 MONDO:0016303 17 Apr 2020 Disease Congenitally uncorrected transposition of the great arteries with coarctation MONDO CN207264 MONDO:0020385 17 Apr 2020 Disease congential malformation of the finger 05 Sep 2019 Finding Congestive heart failure Human Phenotype Ontology C0018802 HP:0001635 16 Feb 2016 Finding Congestive heart failure and beta-blocker response, modifier of NCBI curation C2676080 16 Feb 2016 Disease Congestive splenomegaly MONDO MONDO:0037251 17 Apr 2020 Disease Congruous heteronymous hemianopia Human Phenotype Ontology C4072998 HP:0030519 16 Feb 2016 Finding Congruous homonymous hemianopia Human Phenotype Ontology C4072997 HP:0030518 16 Feb 2016 Finding Conic shape of #13 and #23 CN236307 13 Apr 2016 Finding Conical incisor Human Phenotype Ontology C1856136 HP:0011065 16 Feb 2016 Finding Conical mandibular incisor Human Phenotype Ontology C4020818 HP:0006339 16 Feb 2016 Finding Conical maxillary incisor Human Phenotype Ontology C4023542 HP:0011083 16 Feb 2016 Finding Conical primary incisor Human Phenotype Ontology C4023543 HP:0011082 16 Feb 2016 Finding Conical teeth, multiple NCBI curation 16 Feb 2016 Disease Conical tooth Human Phenotype Ontology C0266037 HP:0000698 16 Feb 2016 Finding conical upper lateral incisors 22 Aug 2019 Finding Conidiobolomycosis MONDO C0276712 MONDO:0000303 04 Jun 2020 Infectious disease Conjugated hyperbilirubinemia Human Phenotype Ontology C0268307 HP:0002908 16 Feb 2016 Finding Conjunctival amyloidosis Human Phenotype Ontology C0268402 HP:0010637 16 Feb 2016 Finding Conjunctival cancer MONDO MONDO:0003454 17 Apr 2020 Disease Conjunctival concretion MONDO MONDO:0001412 17 Apr 2020 Disease Conjunctival degeneration MONDO C0155160 MONDO:0000949 17 Apr 2020 Disease Conjunctival deposit MONDO C0162280 MONDO:0001331 17 Apr 2020 Disease Conjunctival disorder MONDO MONDO:0006170 17 Apr 2020 Disease Conjunctival follicles Human Phenotype Ontology C0860499 HP:0030947 02 Apr 2017 Finding Conjunctival folliculosis MONDO C0155143 MONDO:0001228 17 Apr 2020 Disease Conjunctival hamartoma Human Phenotype Ontology C4021849 HP:0100780 16 Feb 2016 Finding Conjunctival hemangioma or hemolymphangioma MONDO MONDO:0020200 17 Apr 2020 Disease Conjunctival hyperemia Human Phenotype Ontology C1761613 HP:0030953 02 Apr 2017 Finding Conjunctival intraepithelial neoplasm MONDO C1333148 MONDO:0003453 17 Apr 2020 Disease Conjunctival lipoma Human Phenotype Ontology C4022854 HP:0012549 16 Feb 2016 Finding Conjunctival lymphangiectasia MONDO C0339186 MONDO:0020202 17 Apr 2020 Disease Conjunctival melanoma 16 Feb 2016 Disease Conjunctival nevus MONDO C0346363 MONDO:0006172 17 Apr 2020 Disease Conjunctival nodule Human Phenotype Ontology C1996949 HP:0009903 16 Feb 2016 Finding Conjunctival papillae Human Phenotype Ontology C0459667 HP:0030946 02 Apr 2017 Finding Conjunctival pigmentation MONDO C0155163 MONDO:0006537 17 Apr 2020 Disease Conjunctival pterygium MONDO MONDO:0001055 17 Apr 2020 Disease Conjunctival squamous cell carcinoma MONDO C0346359 MONDO:0006173 17 Apr 2020 Disease Conjunctival telangiectasia Human Phenotype Ontology C0239105 HP:0000524 16 Feb 2016 Finding Conjunctival tumor MONDO MONDO:0020204 17 Apr 2020 Disease Conjunctival vascular anomaly MONDO MONDO:0020199 17 Apr 2020 Disease Conjunctival vascular disease MONDO MONDO:0001174 17 Apr 2020 Disease Conjunctival whitish salt-like deposits Human Phenotype Ontology C1968901 HP:0007799 16 Feb 2016 Finding Conjunctivitis Human Phenotype Ontology C0009763 HP:0000509 16 Feb 2016 Finding Conjunctivitis with Pseudomembrane 16 Feb 2016 Disease Conjunctivochalasis MONDO C0878693 MONDO:0002931 17 Apr 2020 Disease Connective and soft tissue neoplasm MONDO C0206765 MONDO:0044334 17 Apr 2020 Disease connective tissue abnormality 05 Sep 2019 Finding Connective tissue cancer MONDO MONDO:0002176 17 Apr 2020 Disease Connective tissue disease MONDO C0009782 MONDO:0003900 17 Apr 2020 Disease Connective tissue disease with eye involvement MONDO MONDO:0020272 17 Apr 2020 Disease Connective tissue dysplasia Spellacy type 16 Feb 2016 Disease Connective tissue neoplasm MONDO C0027656 MONDO:0021581 17 Apr 2020 Disease Connective tissue nevi Human Phenotype Ontology C0334083 HP:0100898 16 Feb 2016 Finding Conngenital contractures CN236412 06 May 2016 Finding Cono-spondylar dysplasia MONDO C4707860 MONDO:0018490 17 Apr 2020 Disease Conotruncal anomaly face syndrome C0795907 16 Feb 2016 Disease Conotruncal anomaly face syndrome/velocardiofacial syndrome NCBI curation C4016770 16 Feb 2016 Disease Conotruncal defect Human Phenotype Ontology C1853238 HP:0001710 16 Feb 2016 Finding Conotruncal heart malformations C1857586 217095 16 Feb 2016 Disease consanguinity C0009789 18 Jan 2019 Finding Conspicuously happy disposition Human Phenotype Ontology C4021029 HP:0100024 16 Feb 2016 Finding Constant exophthalmos MONDO C0155267 MONDO:0004929 17 Apr 2020 Disease Constipation Human Phenotype Ontology C0009806 HP:0002019 16 Feb 2016 Finding Constipation disorder MONDO MONDO:0002203 17 Apr 2020 Disease Constitutional anemia due to iron metabolism disorder MONDO CN227778 MONDO:0020098 17 Apr 2020 Disease Constitutional dyserythropoietic anemia MONDO CN227124 MONDO:0017397 17 Apr 2020 Disease Constitutional hemolytic anemia due to membrane defect MONDO CN227780 MONDO:0020101 17 Apr 2020 Disease Constitutional megaloblastic anemia due to folate metabolism disorder MONDO CN227786 MONDO:0020111 17 Apr 2020 Disease Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder MONDO CN227785 MONDO:0020109 17 Apr 2020 Disease Constitutional neutropenia MONDO C4543728 MONDO:0015134 17 Apr 2020 Disease Constitutional neutropenia with extra-hematopoietic manifestations MONDO CN261737 MONDO:0018032 17 Apr 2020 Disease Constitutional symptom Human Phenotype Ontology C0009812 HP:0025142 02 Apr 2017 Finding Constricted iliac wings Human Phenotype Ontology C1854785 HP:0003277 16 Feb 2016 Finding Constricted radial neck Human Phenotype Ontology C4025458 HP:0003998 16 Feb 2016 Finding Constricted radius Human Phenotype Ontology C4025468 HP:0003976 16 Feb 2016 Finding Constricting bands, congenital NCBI curation C0220724 217100 16 Feb 2016 Disease Constriction of peripheral visual field Human Phenotype Ontology C0235095 HP:0001133 16 Feb 2016 Finding Constrictive bronchiolitis 16 Feb 2016 Disease Constrictive median neuropathy Human Phenotype Ontology C4023009 HP:0012185 16 Feb 2016 Finding Constrictive pericarditis Human Phenotype Ontology C0031048 HP:0002563 16 Feb 2016 Finding Contact blepharoconjunctivitis MONDO C0155150 MONDO:0001853 17 Apr 2020 Disease Contact dermatitis MONDO C0011616 MONDO:0005480 17 Apr 2020 Disease Contact dermatitis due to nickel MONDO C0684345 MONDO:0005481 17 Apr 2020 Disease Contact lens corneal edema MONDO C0474442 MONDO:0001183 17 Apr 2020 Disease Contagious pleuropneumonia MONDO C0032243 MONDO:0005716 04 Jun 2020 Infectious disease Contagious pustular dermatitis MONDO C0013570 MONDO:0005717 04 Jun 2020 Infectious disease Contiguous abcd1/dxs1375e deletion syndrome NCBI curation C1845408 16 Feb 2016 Disease Continuous muscle fiber activity, hereditary NCBI curation C1834559 16 Feb 2016 Disease Continuous spike and waves during slow sleep Human Phenotype Ontology C3806403 HP:0031491 04 Apr 2018 Finding Continuous spike and waves during slow-wave sleep syndrome NCBI curation CN181337 16 Feb 2016 Disease Continuous spike-wave during slow sleep syndrome 16 Feb 2016 Disease contracture at proximal interphalangeal joint 11 May 2019 Finding Contracture of proximal interphalangeal joints of 2nd-5th fingers Human Phenotype Ontology C4073123 HP:0030675 02 Apr 2017 Finding Contracture of the distal interphalangeal joint of the 2nd finger Human Phenotype Ontology C4024302 HP:0009538 16 Feb 2016 Finding Contracture of the distal interphalangeal joint of the 2nd toe Human Phenotype Ontology C4021015 HP:0100352 16 Feb 2016 Finding Contracture of the distal interphalangeal joint of the 3rd finger Human Phenotype Ontology C4024344 HP:0009469 16 Feb 2016 Finding Contracture of the distal interphalangeal joint of the 3rd toe Human Phenotype Ontology C4022132 HP:0100353 16 Feb 2016 Finding Contracture of the distal interphalangeal joint of the 4th finger Human Phenotype Ontology C4024476 HP:0009275 16 Feb 2016 Finding Contracture of the distal interphalangeal joint of the 4th toe Human Phenotype Ontology C4022131 HP:0100354 16 Feb 2016 Finding Contracture of the distal interphalangeal joint of the 5th finger Human Phenotype Ontology C4024551 HP:0009184 16 Feb 2016 Finding Contracture of the distal interphalangeal joint of the fingers Human Phenotype Ontology C4024230 HP:0009697 02 Apr 2017 Finding Contracture of the interphalangeal joint of the hallux Human Phenotype Ontology C4023967 HP:0010214 16 Feb 2016 Finding Contracture of the metacarpophalangeal joint of the 2nd finger Human Phenotype Ontology C4024301 HP:0009539 16 Feb 2016 Finding Contracture of the metacarpophalangeal joint of the 3rd finger Human Phenotype Ontology C4024343 HP:0009470 16 Feb 2016 Finding Contracture of the metacarpophalangeal joint of the 4th finger Human Phenotype Ontology C4024475 HP:0009277 16 Feb 2016 Finding Contracture of the metacarpophalangeal joint of the 5th finger Human Phenotype Ontology C4024550 HP:0009186 16 Feb 2016 Finding Contracture of the metatarsophalangeal joint of the 2nd toe Human Phenotype Ontology C4022129 HP:0100356 16 Feb 2016 Finding Contracture of the metatarsophalangeal joint of the 3rd toe Human Phenotype Ontology C4022128 HP:0100357 16 Feb 2016 Finding Contracture of the metatarsophalangeal joint of the 4th toe Human Phenotype Ontology C4022127 HP:0100358 16 Feb 2016 Finding Contracture of the metatarsophalangeal joint of the 5th toe Human Phenotype Ontology C4022126 HP:0100359 16 Feb 2016 Finding Contracture of the proximal interphalangeal joint of the 2nd finger Human Phenotype Ontology C4021451 HP:0009540 16 Feb 2016 Finding Contracture of the proximal interphalangeal joint of the 2nd toe Human Phenotype Ontology C4021019 HP:0100348 16 Feb 2016 Finding Contracture of the proximal interphalangeal joint of the 3rd finger Human Phenotype Ontology C4021467 HP:0009471 16 Feb 2016 Finding Contracture of the proximal interphalangeal joint of the 3rd toe Human Phenotype Ontology C4021018 HP:0100349 16 Feb 2016 Finding Contracture of the proximal interphalangeal joint of the 4th finger Human Phenotype Ontology C4021503 HP:0009276 16 Feb 2016 Finding Contracture of the proximal interphalangeal joint of the 4th toe Human Phenotype Ontology C4021017 HP:0100350 16 Feb 2016 Finding Contracture of the proximal interphalangeal joint of the 5th finger Human Phenotype Ontology C3554612 HP:0009185 16 Feb 2016 Finding Contracture of the tarsometatarsal joint of the hallux Human Phenotype Ontology C4023968 HP:0010213 16 Feb 2016 Finding Contractures - webbed neck - micrognathia - hypoplastic nipples syndrome MONDO C4751075 MONDO:0017788 17 Apr 2020 Disease Contractures involving the joints of the feet Human Phenotype Ontology C0343149 HP:0008366 16 Feb 2016 Finding Contractures of elbows and fingers 06 Nov 2018 Finding Contractures of elbows and hips 06 Nov 2018 Finding Contractures of fingers 06 Nov 2018 Finding Contractures of fingers of both hands 11 May 2019 Finding Contractures of the carpometacarpal joint of the thumb Human Phenotype Ontology C4024269 HP:0009624 16 Feb 2016 Finding Contractures of the distal interphalangeal joint of the 5th toe Human Phenotype Ontology C4022130 HP:0100355 16 Feb 2016 Finding Contractures of the interphalangeal joint of the thumb Human Phenotype Ontology C2108146 HP:0009626 16 Feb 2016 Finding Contractures of the interphalangeal joints C1853485 03 Mar 2016 Finding Contractures of the joints of the lower limbs Human Phenotype Ontology C1859523 HP:0005750 16 Feb 2016 Finding Contractures of the joints of the upper limbs Human Phenotype Ontology C2750635 HP:0100360 16 Feb 2016 Finding Contractures of the large joints Human Phenotype Ontology C1859698 HP:0005781 16 Feb 2016 Finding Contractures of the metacarpophalangeal joint of the thumb Human Phenotype Ontology C2108151 HP:0009625 16 Feb 2016 Finding Contractures of the metatarsophalangeal joint of the hallux Human Phenotype Ontology C4023966 HP:0010215 16 Feb 2016 Finding Contractures of the proximal interphalangeal joint of the 5th toe Human Phenotype Ontology C4021016 HP:0100351 16 Feb 2016 Finding Contractures, congenital, torticollis, and malignant hyperthermia NCBI curation C1857576 217150 16 Feb 2016 Disease CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B OMIM C5193114 618469 618469 06 Mar 2020 Disease Contractures, pterygia, and variable skeletal fusions syndrome OMIM phenotypic series CN263140 PS178110 12 Jan 2020 Disease Contractures, pterygia, and variable skeletal fusions syndrome 1A NCBI curation C1867440 178110 12 Jan 2020 Disease Contractures-developmental delay-Pierre Robin syndrome MONDO CN237584 MONDO:0018571 17 Apr 2020 Disease Contractures-ectodermal dysplasia-cleft lip/palate syndrome MONDO C1844935 MONDO:0010531 301815 17 Apr 2020 Disease Contralateral hydronephrosis 24 Nov 2017 Finding Conus medullaris neoplasm MONDO C1333153 MONDO:0002719 17 Apr 2020 Disease Conventional angiosarcoma MONDO C1333155 MONDO:0003025 17 Apr 2020 Disease Conventional fibrosarcoma MONDO C1333156 MONDO:0002677 17 Apr 2020 Disease Conventional leiomyosarcoma MONDO C1333157 MONDO:0003348 17 Apr 2020 Disease Conventional lipoma MONDO C1333059 MONDO:0000967 17 Apr 2020 Disease Conventional malignant hemangiopericytoma MONDO C1333158 MONDO:0003800 17 Apr 2020 Disease Conventional osteosarcoma MONDO C1266166 MONDO:0002631 07 Jun 2020 Disease Conversion disorder 16 Feb 2016 Disease conversion disorder with sensory symptom or deficit 05 Sep 2019 Finding Convex contour of sole Human Phenotype Ontology C4023421 HP:0011303 16 Feb 2016 Finding Convex nasal ridge Human Phenotype Ontology C0240538 HP:0000444 16 Feb 2016 Finding convulsion 05 Sep 2019 Finding convulsions 14 Mar 2019 Finding Convulsive disorder, familial, with prenatal or early onset NCBI curation C1857575 217200 16 Feb 2016 Disease Cooks syndrome MONDO C1862841 MONDO:0007134 106995 17 Apr 2020 Disease Coombs-positive hemolytic anemia Human Phenotype Ontology C0520736 HP:0004844 16 Feb 2016 Finding Copd, severe early-onset NCBI curation 16 Feb 2016 Disease Copper accumulation in brain Human Phenotype Ontology C4022787 HP:0012676 16 Feb 2016 Finding Copper accumulation in liver Human Phenotype Ontology C3672035 HP:0025321 02 Apr 2017 Finding Copper toxicosis, idiopathic NCBI curation 16 Feb 2016 Disease Copper Transport Disorders CN043585 16 Feb 2016 Disease Copper-overload cirrhosis NCBI curation 16 Feb 2016 Disease Coproporphyria NCBI curation C0342856 16 Feb 2016 Disease Coproporphyria, digenic NCBI curation C4017281 16 Feb 2016 Disease CoQ deficiency 05 Sep 2019 Finding CoQ-responsive OXPHOS deficiency C1842463 608158 16 Feb 2016 Disease Cor biloculare C0152238 16 Feb 2016 Disease Cor pulmonale Human Phenotype Ontology C0034072 HP:0001648 16 Feb 2016 Finding Cor triatriatum dexter Human Phenotype Ontology C0344697 HP:0011566 16 Feb 2016 Finding Cor triatriatum sinister MONDO C0344712 MONDO:0020430 17 Apr 2020 Disease Cor triatrium sinister Human Phenotype Ontology C4476993 HP:0031134 04 Apr 2018 Finding Coracoclavicular joint, anomalous NCBI curation C1852561 121350 16 Feb 2016 Disease Coralliform cataract Human Phenotype Ontology C1392104 HP:0010921 16 Feb 2016 Finding Cordiform uterus MONDO C0266397 MONDO:0015838 17 Apr 2020 Disease Cork-handlers' disease MONDO C0152108 MONDO:0004549 17 Apr 2020 Disease Cormier Rustin Munnich syndrome 16 Feb 2016 Disease Cornea cancer MONDO C0153629 MONDO:0003802 17 Apr 2020 Disease Cornea guttata with anterior polar cataracts MONDO C1852558 MONDO:0007371 121390 22 Apr 2020 Disease Cornea neoplasm MONDO C0339304 MONDO:0021238 17 Apr 2020 Disease Cornea plana 1, autosomal dominant NCBI curation C1852557 121400 24 Aug 2016 Disease Cornea plana 2 NCBI curation C1857574 217300 16 Feb 2016 Disease Cornea squamous cell carcinoma MONDO C0346366 MONDO:0001740 17 Apr 2020 Disease Cornea verticillata Human Phenotype Ontology C1706559 HP:0500008 04 Apr 2018 Finding Corneal abscess MONDO C0155091 MONDO:0001307 04 Jun 2020 Infectious disease Corneal anesthesia deafness mental retardation 16 Feb 2016 Disease Corneal argyrosis MONDO C0155108 MONDO:0001716 17 Apr 2020 Disease Corneal asymmetry Human Phenotype Ontology C4021373 HP:0009915 16 Feb 2016 Finding Corneal clouding due to apolipoprotein a-i deficiency NCBI curation 16 Feb 2016 Disease Corneal crystals Human Phenotype Ontology C1096610 HP:0000531 16 Feb 2016 Finding Corneal crystals myopathy neuropathy 16 Feb 2016 Disease Corneal degeneration Human Phenotype Ontology C0155118 HP:0007705 16 Feb 2016 Finding Corneal degeneration, band-shaped spheroid NCBI curation C1857571 217520 16 Feb 2016 Disease Corneal degeneration, ribbonlike, with deafness NCBI curation C1852556 121450 16 Feb 2016 Disease Corneal deposit MONDO C0162281 MONDO:0001308 17 Apr 2020 Disease Corneal disease MONDO C0010034 MONDO:0000942 17 Apr 2020 Disease Corneal dystrophy Human Phenotype Ontology C0010036 HP:0001131 16 Feb 2016 Disease Corneal dystrophy ichthyosis microcephaly mental retardation 16 Feb 2016 Disease Corneal dystrophy pigmentary anomaly malabsorption 16 Feb 2016 Disease Corneal Dystrophy, Dominant CN239349 02 Dec 2016 Disease Corneal Dystrophy, Dominant/Recessive CN239339 02 Dec 2016 Disease Corneal dystrophy, endothelial, X-linked NCBI curation C2749049 300779 16 Feb 2016 Disease Corneal dystrophy, Fuchs endothelial 1 NCBI curation C1850959 136800 16 Feb 2016 Disease Corneal dystrophy, Fuchs endothelial, 2 NCBI curation C1857800 610158 16 Feb 2016 Disease Corneal dystrophy, Fuchs endothelial, 3 NCBI curation C2750451 613267 16 Feb 2016 Disease Corneal dystrophy, Fuchs endothelial, 4 NCBI curation C2750450 613268 16 Feb 2016 Disease Corneal dystrophy, Fuchs endothelial, 5 NCBI curation C2750449 613269 16 Feb 2016 Disease Corneal dystrophy, Fuchs endothelial, 6 NCBI curation C2750448 613270 16 Feb 2016 Disease Corneal dystrophy, Fuchs endothelial, 7 NCBI curation C2750447 613271 16 Feb 2016 Disease Corneal dystrophy, Fuchs endothelial, 8 NCBI curation C3809798 615523 16 Feb 2016 Disease Corneal dystrophy, lattice type 3A MONDO C1837974 MONDO:0012044 608471 22 Apr 2020 Disease Corneal dystrophy, lattice, type 2 16 Feb 2016 Disease Corneal dystrophy, lisch epithelial NCBI curation C2749050 300778 16 Feb 2016 Disease Corneal dystrophy, posterior amorphous NCBI curation C2748502 612868 16 Feb 2016 Disease Corneal dystrophy, posterior polymorphous, 2 NCBI curation C1852795 609140 16 Feb 2016 Disease CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4 OMIM C4747961 618031 618031 28 Jun 2018 Disease Corneal Dystrophy, Recessive CN239343 02 Dec 2016 Disease Corneal dystrophy, subepithelial mucinous NCBI curation C2748503 612867 16 Feb 2016 Disease Corneal dystrophy-perceptive deafness syndrome MONDO C1857572 MONDO:0009015 217400 17 Apr 2020 Disease Corneal ectasia MONDO C0155135 MONDO:0001950 17 Apr 2020 Disease corneal edema C0010037 18 Jan 2019 Finding Corneal endothelial dystrophy OMIM phenotypic series C1857569 PS121700 217700 04 Apr 2020 Disease Corneal epithelial dystrophy C0521723 121820 16 Feb 2016 Disease Corneal erosion Human Phenotype Ontology C0392163 HP:0200020 16 Feb 2016 Finding Corneal guttata Human Phenotype Ontology C0271288 HP:0012038 16 Feb 2016 Finding Corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation NCBI curation C2930866 122430 16 Feb 2016 Disease Corneal infection MONDO C0729777 MONDO:0023865 04 Jun 2020 Infectious disease Corneal intraepithelial neoplasm MONDO C1333159 MONDO:0003801 17 Apr 2020 Disease Corneal keratic precipitates Human Phenotype Ontology C2109272 HP:0025341 02 Apr 2017 Finding Corneal neovascularization Human Phenotype Ontology C0085109 HP:0011496 16 Feb 2016 Finding Corneal opacity Human Phenotype Ontology C0010038 HP:0007957 16 Feb 2016 Finding Corneal perforation Human Phenotype Ontology C0339293 HP:0100583 16 Feb 2016 Finding Corneal scarring Human Phenotype Ontology C0349702 HP:0000559 16 Feb 2016 Finding Corneal staphyloma MONDO C0152440 MONDO:0001579 17 Apr 2020 Disease Corneal stromal edema Human Phenotype Ontology C0474444 HP:0012040 16 Feb 2016 Finding Corneal ulceration Human Phenotype Ontology C0010043 HP:0012804 16 Feb 2016 Finding Corneal-cerebellar syndrome MONDO C1849087 MONDO:0010063 271310 22 Apr 2020 Disease Cornelia de Lange Syndrome CN239271 02 Dec 2016 Disease Cornelia de Lange syndrome 1 NCBI curation C4551851 122470 16 Feb 2016 Disease Cornelia de Lange syndrome 3 NCBI curation C1853099 610759 16 Feb 2016 Disease Cornelia de Lange syndrome 4 NCBI curation C3553517 614701 16 Feb 2016 Disease Cornelia de Lange syndrome 5 NCBI curation C3550903 300882 16 Feb 2016 Disease Corneodermatoosseous syndrome C1852542 122440 16 Feb 2016 Disease Corneogoniodysgenesis MONDO CN229287 MONDO:0020219 17 Apr 2020 Disease Corneoiridogoniodysgenesis MONDO MONDO:0020220 17 Apr 2020 Disease Corneolenticular adhesion Human Phenotype Ontology C4023334 HP:0011485 16 Feb 2016 Finding Corner fracture of metaphysis Human Phenotype Ontology C1866687 HP:0003908 02 Apr 2017 Finding Corner fragments of ulnar metaphysis Human Phenotype Ontology C4025423 HP:0004040 16 Feb 2016 Finding Coronal cleft vertebrae Human Phenotype Ontology C1834954 HP:0003417 16 Feb 2016 Finding Coronal craniosynostosis Human Phenotype Ontology C1856266 HP:0004440 16 Feb 2016 Finding Coronal hypospadias Human Phenotype Ontology C1394030 HP:0008743 16 Feb 2016 Finding Coronal synostosis, syndactyly and jejunal atresia C2931194 16 Feb 2016 Disease Coronaro-cardiac fistula 16 Feb 2016 Disease Coronary aneurysm MONDO C0010051 MONDO:0006714 17 Apr 2020 Disease Coronary arteries congenital malformation 16 Feb 2016 Disease Coronary arteriovenous fistula Human Phenotype Ontology C0238127 HP:0031563 04 Apr 2018 Finding Coronary artery calcification Human Phenotype Ontology C1611184 HP:0001717 16 Feb 2016 Finding Coronary artery disease Human Phenotype Ontology C1956346 HP:0001677 16 Feb 2016 Disease Coronary artery disease, autosomal dominant 2 NCBI curation C1970440 610947 16 Feb 2016 Disease Coronary artery disease, autosomal dominant, 1 NCBI curation C1842247 608320 16 Feb 2016 Disease Coronary artery disease, development of, in hiv NCBI curation C1834751 16 Feb 2016 Disease Coronary artery disease, modifier of NCBI curation C1834750 16 Feb 2016 Disease Coronary artery disease, resistance to NCBI curation C1832288 16 Feb 2016 Disease Coronary artery disease, severe, susceptibility to NCBI curation C1862591 16 Feb 2016 Disease Coronary artery disease, susceptibility to NCBI curation C1840169 16 Feb 2016 Disease Coronary artery disease/myocardial infarction NCBI curation 16 Feb 2016 Disease Coronary artery dissection Human Phenotype Ontology C0340648 HP:0006702 04 Apr 2018 Finding Coronary artery dissection, spontaneous NCBI curation C1852540 122455 16 Feb 2016 Disease Coronary artery fistula Human Phenotype Ontology C0265898 HP:0011641 16 Feb 2016 Finding Coronary artery sandwich anomaly Human Phenotype Ontology C4476816 HP:0025506 04 Apr 2018 Finding Coronary artery spasm Human Phenotype Ontology C0010073 HP:0025497 16 Feb 2016 Disease Coronary artery spasm 1, susceptibility to NCBI curation C3149657 16 Feb 2016 Disease Coronary artery spasm 2, susceptibility to NCBI curation C3149706 16 Feb 2016 Disease Coronary artery spasm 3, susceptibility to NCBI curation CN068477 16 Feb 2016 Disease Coronary artery stenosis Human Phenotype Ontology C0242231 HP:0005145 16 Feb 2016 Finding Coronary atherosclerosis Human Phenotype Ontology C0010054 HP:0004929 16 Feb 2016 Finding Coronary cameral fistula Human Phenotype Ontology C4531040 HP:0031560 04 Apr 2018 Finding Coronary cameral fistula to right ventricle Human Phenotype Ontology C4531039 HP:0031561 04 Apr 2018 Finding Coronary Disease PharmGKB CN236660 18 May 2016 Disease Coronary Disease;Hyperlipidemias PharmGKB 17 Feb 2017 Disease Coronary Disease;Myocardial Infarction PharmGKB 17 Feb 2017 Disease Coronary heart disease C0010068 16 Feb 2016 Disease Coronary heart disease 1 NCBI curation C1846418 607339 16 Feb 2016 Disease Coronary heart disease 2 NCBI curation C1842260 608316 16 Feb 2016 Disease Coronary heart disease 3 NCBI curation C1845454 300464 16 Feb 2016 Disease Coronary heart disease 4 NCBI curation C1842258 608318 16 Feb 2016 Disease Coronary heart disease 5 NCBI curation C1837173 608901 16 Feb 2016 Disease Coronary heart disease 6 NCBI curation C3280913 614466 16 Feb 2016 Disease Coronary heart disease 7 NCBI curation C1970441 610938 16 Feb 2016 Disease Coronary heart disease 8 NCBI curation C1970158 611139 16 Feb 2016 Disease Coronary heart disease 9 NCBI curation C2677580 612030 16 Feb 2016 Disease Coronary heart disease in familial hypercholesterolemia, protection against NCBI curation CN069267 16 Feb 2016 Disease Coronary microvascular disease MONDO MONDO:0044875 17 Apr 2020 Disease Coronary restenosis MONDO C0948480 MONDO:0005355 17 Apr 2020 Disease Coronary sclerosis, medial, of infancy NCBI curation C1859728 16 Feb 2016 Disease Coronary sinus atresia MONDO CN227878 MONDO:0020447 17 Apr 2020 Disease Coronary sinus atrial septal defect Human Phenotype Ontology C2063331 HP:0011643 16 Feb 2016 Finding Coronary sinus diverticulum Human Phenotype Ontology C3163894 HP:0011644 16 Feb 2016 Finding Coronary sinus enlargement Human Phenotype Ontology C4531220 HP:0031298 04 Apr 2018 Finding Coronary sinus stenosis MONDO CN227877 MONDO:0020446 17 Apr 2020 Disease Coronary thrombosis MONDO C0010072 MONDO:0006716 17 Apr 2020 Disease Coronary-pulmonary artery fistula Human Phenotype Ontology C4476821 HP:0025516 04 Apr 2018 Finding Coronavinae infectious disease MONDO CN281774 MONDO:0005719 04 Jun 2020 Infectious disease Coronaviridae infectious disease MONDO C0010078 MONDO:0005718 04 Jun 2020 Infectious disease Corpus callosum abnormalities 16 Feb 2016 Finding Corpus callosum agenesis double urinary collecting 16 Feb 2016 Disease Corpus callosum agenesis of blepharophimosis Robin type 16 Feb 2016 Disease Corpus callosum agenesis polysyndactyly 16 Feb 2016 Disease Corpus callosum agenesis-abnormal genitalia syndrome MONDO C0796124 MONDO:0010224 300004 17 Apr 2020 Disease Corpus callosum agenesis-double urinary collecting system syndrome MONDO C2930897 MONDO:0015457 17 Apr 2020 Disease Corpus callosum agenesis-macrocephaly-hypertelorism syndrome MONDO CN242137 MONDO:0018725 17 Apr 2020 Disease Corpus callosum atrophy Human Phenotype Ontology C0431370 HP:0007371 16 Feb 2016 Finding Corpus callosum dysgenesis cleft spasm 16 Feb 2016 Disease Corpus callosum dysgenesis hypopituitarism 16 Feb 2016 Disease Corpus callosum dysgenesis X-linked recessive 16 Feb 2016 Disease Corpus callosum oligodendroglioma MONDO MONDO:0000519 17 Apr 2020 Disease Corpus callosum, agenesis of MONDO C0175754 MONDO:0009022 217990 22 Apr 2020 Disease Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia NCBI curation C4225193 616819 26 May 2016 Disease Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia NCBI curation C1845446 300472 16 Feb 2016 Disease Corpus callosum, partial agenesis of, X-linked NCBI curation C1839909 304100 16 Feb 2016 Disease Corpus cavernosum sclerosis Human Phenotype Ontology C4022008 HP:0100624 16 Feb 2016 Finding Corpus luteum cyst MONDO C0010093 MONDO:0001625 17 Apr 2020 Disease Corpus uteri neoplasm MONDO C1263777 MONDO:0021254 17 Apr 2020 Disease Corsello Opitz syndrome 16 Feb 2016 Disease Cortada Koussef Matsumoto syndrome 16 Feb 2016 Disease Cortes Lacassie syndrome 16 Feb 2016 Disease Cortical blindness mental retardation polydactyly 16 Feb 2016 Disease Cortical blindness, retardation, and postaxial polydactyly NCBI curation C1857568 218010 16 Feb 2016 Disease Cortical cataract Human Phenotype Ontology C0271160 HP:0100019 16 Feb 2016 Finding Cortical deafness MONDO C0392704 MONDO:0000670 17 Apr 2020 Disease Cortical diaphyseal irregularity of the upper limbs Human Phenotype Ontology C4025549 HP:0003858 16 Feb 2016 Finding Cortical diaphyseal thickening of the upper limbs Human Phenotype Ontology C4025548 HP:0003859 16 Feb 2016 Finding Cortical dysplasia Human Phenotype Ontology C0431380 HP:0002539 16 Feb 2016 Finding Cortical dysplasia of Taylor with balloon cells NCBI curation 16 Feb 2016 Disease Cortical dysplasia of taylor without balloon cells NCBI curation 16 Feb 2016 Disease Cortical dysplasia of taylor, dysplasia only NCBI curation 16 Feb 2016 Disease Cortical dysplasia, complex, with other brain malformations OMIM phenotypic series CN228165 PS614039 16 Feb 2016 Disease Cortical dysplasia, complex, with other brain malformations 1 NCBI curation C3808397 614039 16 Feb 2016 Disease CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10 OMIM C5231458 618677 618677 27 Nov 2019 Disease Cortical dysplasia, complex, with other brain malformations 2 NCBI curation C3809013 615282 16 Feb 2016 Disease Cortical dysplasia, complex, with other brain malformations 3 NCBI curation C3809414 615411 16 Feb 2016 Disease Cortical dysplasia, complex, with other brain malformations 4 NCBI curation C3809420 615412 16 Feb 2016 Disease Cortical dysplasia, complex, with other brain malformations 5 NCBI curation C3810407 615763 16 Feb 2016 Disease Cortical dysplasia, complex, with other brain malformations 6 NCBI curation C4014283 615771 16 Feb 2016 Disease CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 OMIM C4748540 618174 618174 07 Nov 2018 Disease Cortical gyral simplification Human Phenotype Ontology C2749675 HP:0009879 16 Feb 2016 Finding Cortical hyperostosis syndactyly 16 Feb 2016 Disease Cortical irregularity Human Phenotype Ontology C4025145 HP:0005731 16 Feb 2016 Finding Cortical irregularity of humeral diaphysis Human Phenotype Ontology C4025501 HP:0003927 16 Feb 2016 Finding cortical lesion 09 May 2019 Finding cortical malformation C2748861 19 Oct 2016 Finding Cortical malformations, occipital NCBI curation C3279875 614115 16 Feb 2016 Disease Cortical myoclonus Human Phenotype Ontology C3698239 HP:0040148 16 Feb 2016 Finding Cortical nephrocalcinosis Human Phenotype Ontology C0403476 HP:0012409 16 Feb 2016 Finding Cortical pulverulent cataract Human Phenotype Ontology C4021568 HP:0007780 16 Feb 2016 Finding Cortical sclerosis Human Phenotype Ontology C4025164 HP:0005652 16 Feb 2016 Finding Cortical senile cataract NCBI curation C0154980 02 Mar 2017 Disease Cortical subperiosteal resorption of humeral metaphyses Human Phenotype Ontology C4025515 HP:0003909 02 Apr 2017 Finding Cortical thickening of hand bones Human Phenotype Ontology C4025379 HP:0004271 16 Feb 2016 Finding Cortical thickening of humeral diaphysis Human Phenotype Ontology C4025500 HP:0003928 16 Feb 2016 Finding Cortical thickening of long bone diaphyses Human Phenotype Ontology C4025133 HP:0005791 16 Feb 2016 Finding Cortical thickening of the forearm bones Human Phenotype Ontology C4021842 HP:0003957 16 Feb 2016 Finding Cortical thinning of foot bones Human Phenotype Ontology C4476707 HP:0025333 02 Apr 2017 Finding Cortical thinning of hand bones Human Phenotype Ontology C4025378 HP:0004272 16 Feb 2016 Finding Cortical thymoma MONDO C1266095 MONDO:0003915 17 Apr 2020 Disease Cortical tubers Human Phenotype Ontology C1968959 HP:0009717 16 Feb 2016 Finding Cortical visual impairment Human Phenotype Ontology C4048268 HP:0100704 16 Feb 2016 Finding Cortically dense long tubular bones Human Phenotype Ontology C1849276 HP:0006415 16 Feb 2016 Finding Corticobasal degeneration C0393570 16 Feb 2016 Disease Corticobasal degeneration disorder MONDO MONDO:0022308 17 Apr 2020 Disease Corticobasal syndrome Orphanet CN237765 ORPHA454887 06 Mar 2019 Disease Corticospinal tract atrophy Human Phenotype Ontology C1838868 HP:0007117 16 Feb 2016 Finding Corticospinal tract hypoplasia Human Phenotype Ontology C1844007 HP:0007016 16 Feb 2016 Finding Corticospinal tract pallor Human Phenotype Ontology C4024690 HP:0008361 16 Feb 2016 Finding Corticosteroid-binding globulin deficiency NCBI curation C1852529 611489 16 Feb 2016 Disease Corticosteroid-binding globulin, elevated NCBI curation 16 Feb 2016 Disease Corticosteroid-induced osteoporosis MONDO C1272167 MONDO:0024651 17 Apr 2020 Disease Corticosteroid-sensitive aseptic abscess syndrome MONDO C4303863 MONDO:0018900 17 Apr 2020 Disease corticosteroids response - Efficacy PharmGKB CN236516 827864250 18 May 2016 Pharmacological response Corticosterone 18-monooxygenase deficiency NCBI curation C0268293 16 Feb 2016 Disease Corticosterone methyloxidase type 1 deficiency NCBI curation CN074214 203400 16 Feb 2016 Disease Corticosterone methyloxidase type 2 deficiency NCBI curation C3463917 610600 16 Feb 2016 Disease Corticotropin-releasing hormone deficient adrenal insufficiency Human Phenotype Ontology C4021127 HP:0011737 02 Apr 2017 Finding Corticotropin-releasing hormone receptor defect Human Phenotype Ontology C4023210 HP:0011738 02 Apr 2017 Finding Cortisol resistance from glucocorticoid receptor defect NCBI curation 16 Feb 2016 Disease Cortisol-producing adrenal cortex adenoma MONDO C1707525 MONDO:0006174 17 Apr 2020 Disease Cortisone reductase deficiency OMIM phenotypic series C1291245 PS604931 30 Jul 2017 Disease Cortisone reductase deficiency 1 NCBI curation C3551716 604931 16 Feb 2016 Disease Cortisone reductase deficiency 2 NCBI curation C3553382 614662 16 Feb 2016 Disease Costal cartilage calcification Human Phenotype Ontology C1855608 HP:0006646 16 Feb 2016 Finding Costello syndrome C0587248 218040 16 Feb 2016 Disease Costello syndrome, severe NCBI curation C4016398 16 Feb 2016 Disease Costochondral joint sclerosis Human Phenotype Ontology C4021588 HP:0006623 16 Feb 2016 Finding Costochondral pain Human Phenotype Ontology C4021587 HP:0006649 16 Feb 2016 Finding Cote Katsantoni syndrome C2931195 16 Feb 2016 Disease Cotton wool plaques Human Phenotype Ontology C4477086 HP:0500028 04 Apr 2018 Finding Cough Human Phenotype Ontology C0010200 HP:0012735 16 Feb 2016 Finding Cough variant asthma MONDO C0694548 MONDO:0001491 17 Apr 2020 Disease COVID-19 MONDO CN280896 MONDO:0100096 12 May 2020 Infectious disease Cow milk allergy Human Phenotype Ontology C0266815 HP:0100327 16 Feb 2016 Finding Cow milk allergy (disease) MONDO MONDO:0000796 17 Apr 2020 Disease Cowchock syndrome NCBI curation C0795910 310490 24 Aug 2016 Disease Cowden CN235605 19 Mar 2016 Finding Cowden suspected CN235606 19 Mar 2016 Finding Cowden syndrome NCBI curation C0018553 27 Jul 2018 Disease Cowden syndrome 1 NCBI curation CN072330 158350 16 Feb 2016 Disease Cowden syndrome 3 NCBI curation 16 Feb 2016 Disease Cowden syndrome 4 NCBI curation C3554517 615107 16 Feb 2016 Disease Cowden syndrome 5 NCBI curation C3554518 615108 16 Feb 2016 Disease Cowden syndrome 6 NCBI curation C3554519 615109 16 Feb 2016 Disease Cowden syndrome 7 NCBI curation C4225179 616858 19 Feb 2019 Disease Cowpox MONDO C0010232 MONDO:0005720 04 Jun 2020 Infectious disease Coxa magna Human Phenotype Ontology C1860826 HP:0003279 16 Feb 2016 Finding Coxa plana Human Phenotype Ontology C0023234 HP:0005743 150600 10 Apr 2018 Disease Coxa valga Human Phenotype Ontology C0239137 HP:0002673 16 Feb 2016 Finding Coxa vara Human Phenotype Ontology C0239138 HP:0002812 122750 16 Feb 2016 Finding Coxa vara, congenital 16 Feb 2016 Disease Coxoauricular syndrome C1852513 122780 16 Feb 2016 Disease Coxopodopatellar syndrome MONDO C1840061 MONDO:0007841 147891 22 Apr 2020 Disease Coxsackievirus b3 susceptibility NCBI curation C1861511 120050 16 Feb 2016 Disease Coxsackievirus infectious disease MONDO C0010246 MONDO:0005721 04 Jun 2020 Infectious disease CP CN234395 16 Feb 2016 Finding CPT deficiency, hepatic, type IA CN262336 30 Jun 2019 Disease CPT1A ARCTIC VARIANT 28 Oct 2018 Disease CPVT-like phenotype CN224180 16 Feb 2016 Finding Cramer Niederdellmann syndrome 16 Feb 2016 Disease cramp spasm 05 Sep 2019 Finding Cramp-fasciculations syndrome 16 Feb 2016 Disease Cramps, familial adolescent NCBI curation C1857533 218050 16 Feb 2016 Disease Crandall syndrome C0432348 16 Feb 2016 Disease Crane-Heise syndrome C1857532 218090 16 Feb 2016 Disease Cranial asymmetry Human Phenotype Ontology C1860245 HP:0000267 16 Feb 2016 Finding Cranial hyperostosis Human Phenotype Ontology C1832451 HP:0004437 16 Feb 2016 Finding Cranial malformation MONDO CN227729 MONDO:0020018 17 Apr 2020 Disease Cranial nerve and nuclear aplasia MONDO CN229273 MONDO:0020132 17 Apr 2020 Disease Cranial nerve compression Human Phenotype Ontology C0521670 HP:0001293 16 Feb 2016 Finding Cranial nerve motor loss Human Phenotype Ontology C4024940 HP:0007097 16 Feb 2016 Finding Cranial nerve neoplasm MONDO C0010267 MONDO:0002633 17 Apr 2020 Disease Cranial nerve neuropathy MONDO C0010266 MONDO:0003569 17 Apr 2020 Disease Cranial nerve paralysis Human Phenotype Ontology C0151311 HP:0006824 16 Feb 2016 Finding Cranial nerve VI palsy Human Phenotype Ontology C4551519 HP:0006897 100200 04 Apr 2018 Disease Cranial nerves, congenital paresis of NCBI curation C1857531 218100 16 Feb 2016 Disease Cranial nerves, recurrent paresis of NCBI curation C1857530 218200 16 Feb 2016 Disease Cranial nodular fasciitis MONDO C1333162 MONDO:0004186 17 Apr 2020 Disease Cranio osteoarthropathy 16 Feb 2016 Disease Cranioacrofacial syndrome C1852512 122850 16 Feb 2016 Disease Craniodiaphyseal dysplasia C0410539 218300 16 Feb 2016 Disease Craniodiaphyseal dysplasia, autosomal dominant NCBI curation C2675746 122860 16 Feb 2016 Disease Craniodigital syndrome mental retardation 16 Feb 2016 Disease Cranioectodermal dysplasia OMIM phenotypic series CN119432 PS218330 16 Feb 2016 Disease Cranioectodermal dysplasia 1 NCBI curation C0432235 218330 16 Feb 2016 Disease Cranioectodermal dysplasia 2 NCBI curation C3150874 613610 16 Feb 2016 Disease Cranioectodermal dysplasia 3 NCBI curation C3279807 614099 16 Feb 2016 Disease Cranioectodermal dysplasia 4 NCBI curation C3280616 614378 16 Feb 2016 Disease Craniofacial (adult onset) 13 Apr 2018 Finding Craniofacial (child onset) CN232536 16 Feb 2016 Finding Craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation NCBI curation C1842363 608227 16 Feb 2016 Disease craniofacial and dermal abnormalities CN238515 24 Sep 2016 Finding Craniofacial and skeletal defects 16 Feb 2016 Disease Craniofacial anomalies and anterior segment dysgenesis syndrome NCBI curation C3280099 614195 16 Feb 2016 Disease Craniofacial anomaly with cataract MONDO CN227831 MONDO:0020234 17 Apr 2020 Disease Craniofacial asymmetry Human Phenotype Ontology C4025320 HP:0004484 16 Feb 2016 Finding Craniofacial conodysplasia MONDO CN227626 MONDO:0019406 17 Apr 2020 Disease Craniofacial disproportion Human Phenotype Ontology C1867114 HP:0005461 16 Feb 2016 Finding Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome NCBI curation C1859252 213980 16 Feb 2016 Disease Craniofacial dysostosis arthrogryposis progeroid appearence 16 Feb 2016 Disease Craniofacial dyssynostosis C1857511 218350 16 Feb 2016 Disease Craniofacial dystonia Human Phenotype Ontology C4023011 HP:0012179 16 Feb 2016 Disease Craniofacial hyperostosis Human Phenotype Ontology C1868085 HP:0004493 16 Feb 2016 Finding Craniofacial microsomia NCBI curation C0265240 16 Feb 2016 Disease Craniofacial osteosclerosis Human Phenotype Ontology C4025193 HP:0005464 16 Feb 2016 Finding Craniofacial teratoma Human Phenotype Ontology C4280784 HP:0030755 02 Apr 2017 Finding Craniofacial-deafness-hand syndrome MONDO C1852510 MONDO:0007395 122880 22 Apr 2020 Disease Craniofacial-skeletal-dermatologic dysplasia NCBI curation 16 Feb 2016 Disease Craniofacial-ulnar-renal syndrome NCBI curation C4303860 16 Feb 2016 Disease Craniofaciocardioskeletal syndrome 16 Feb 2016 Disease Craniofaciocervical osteoglyphic dysplasia 16 Feb 2016 Disease Craniofaciofrontodigital syndrome NCBI curation C2676032 114620 16 Feb 2016 Disease Craniofacioskeletal syndrome NCBI curation C2678036 300712 16 Feb 2016 Disease Craniofrontonasal dysplasia-Poland anomaly syndrome MONDO CN199598 MONDO:0015464 17 Apr 2020 Disease Craniofrontonasal syndrome MONDO C0220767 MONDO:0010570 304110 22 Apr 2020 Disease Craniofrontonasal syndrome Teebi type 16 Feb 2016 Disease Craniolenticulosutural dysplasia NCBI curation C1843042 607812 16 Feb 2016 Disease Craniometaphyseal dysplasia NCBI curation C0265292 269300 08 Aug 2017 Disease Craniometaphyseal dysplasia, autosomal dominant C1852502 123000 16 Feb 2016 Disease Craniometaphyseal dysplasia, autosomal recessive MONDO C2931244 MONDO:0009035 218400 22 Apr 2020 Disease Craniomicromelic syndrome C1865184 602558 16 Feb 2016 Disease Cranioosteoarthropathy NCBI curation C2678439 16 Feb 2016 Disease Craniopharyngioma Human Phenotype Ontology C0010276 HP:0030062 02 Mar 2017 Disease Craniorachischisis (disease) MONDO C0152426 MONDO:0018969 17 Apr 2020 Disease Craniorhiny NCBI curation C1852501 123050 16 Feb 2016 Disease Craniostenosis associated with a strabismus MONDO CN261276 MONDO:0020254 17 Apr 2020 Disease Craniostenosis cataract 16 Feb 2016 Disease Craniostenosis with congenital heart disease mental retardation 16 Feb 2016 Disease Craniosynostosis Human Phenotype Ontology C1849943 HP:0001363 16 Feb 2016 Finding Craniosynostosis OMIM phenotypic series C1849943 PS123100 16 Feb 2016 Finding Craniosynostosis 1 NCBI curation C4551902 123100 16 Feb 2016 Disease Craniosynostosis 2 NCBI curation C1858160 604757 25 May 2016 Disease Craniosynostosis 3 NCBI curation C3715051 615314 16 Feb 2016 Disease Craniosynostosis 4 MONDO C3806917 MONDO:0010929 600775 17 Apr 2020 Disease Craniosynostosis 5, susceptibility to NCBI curation C3809819 615529 16 Feb 2016 Disease Craniosynostosis 6 NCBI curation C4225269 616602 16 Feb 2016 Disease Craniosynostosis 7 NCBI curation C4479496 617439 20 Jun 2017 Disease CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO CN259003 21 Apr 2017 Disease Craniosynostosis alopecia brain defect 16 Feb 2016 Disease Craniosynostosis and dental anomalies NCBI curation C3280073 614188 16 Feb 2016 Disease Craniosynostosis arthrogryposis cleft palate 16 Feb 2016 Disease Craniosynostosis autosomal dominant 16 Feb 2016 Disease Craniosynostosis cleft lip palate arthrogryposis 16 Feb 2016 Disease Craniosynostosis contractures cleft 16 Feb 2016 Disease Craniosynostosis exostoses nevus epibulbar dermoid 16 Feb 2016 Disease Craniosynostosis fibular aplasia 16 Feb 2016 Disease Craniosynostosis Fontaine type 16 Feb 2016 Disease Craniosynostosis Maroteaux Fonfria type 16 Feb 2016 Disease Craniosynostosis mental retardation heart defects 16 Feb 2016 Disease Craniosynostosis syndrome NCBI curation C0010278 16 Feb 2016 Disease Craniosynostosis syndrome, autosomal recessive NCBI curation C1847865 606529 16 Feb 2016 Disease Craniosynostosis with anomalies of the cranial base and digits NCBI curation C1857493 218530 16 Feb 2016 Disease Craniosynostosis with ectopia lentis NCBI curation C1863678 603595 16 Feb 2016 Disease Craniosynostosis with fibular aplasia NCBI curation C1857492 218550 16 Feb 2016 Disease Craniosynostosis with ocular abnormalities and hallucal defects NCBI curation C1842316 608279 16 Feb 2016 Disease Craniosynostosis, Adelaide type NCBI curation C1833578 600593 16 Feb 2016 Disease Craniosynostosis, anal anomalies, and porokeratosis C1864186 603116 16 Feb 2016 Disease Craniosynostosis, calcification of basal ganglia, and facial dysmorphism NCBI curation C1842058 608432 16 Feb 2016 Disease Craniosynostosis, Herrmann-Opitz type MONDO MONDO:0016291 22 Apr 2020 Disease Craniosynostosis, nonclassifiable autosomal dominant NCBI curation C1867563 16 Feb 2016 Disease Craniosynostosis, nonspecific CN239568 16 Dec 2016 Disease Craniosynostosis, nonsyndromic unicoronal NCBI curation C4016346 16 Feb 2016 Disease Craniosynostosis, Philadelphia type NCBI curation C1832590 16 Feb 2016 Disease Craniosynostosis-anal anomalies-porokeratosis syndrome CN238540 03 Oct 2016 Disease Craniosynostosis-cataract syndrome MONDO MONDO:0015468 17 Apr 2020 Disease Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome MONDO C3267187 MONDO:0015751 17 Apr 2020 Disease Craniosynostosis-mental retardation syndrome of 51N and Gettig MONDO C1857473 MONDO:0009040 218649 17 Apr 2020 Disease Craniosynostosis-mental retardation-clefting syndrome NCBI curation C1857472 218650 16 Feb 2016 Disease Craniotelencephalic dysplasia C1857471 218670 16 Feb 2016 Disease Crawfurd syndrome 16 Feb 2016 Disease Crazy paving pattern on pulmonary HRCT Human Phenotype Ontology C4476749 HP:0025391 04 Apr 2018 Finding CRB1-Related Disorders 23 May 2019 Disease Creases, infra-auricular cutaneous, with tall stature and advanced bone age NCBI curation C1865360 602472 16 Feb 2016 Disease Creatine biosynthetic process disease MONDO C0574079 MONDO:0045018 17 Apr 2020 Disease Creatine kinase, brain type, ectopic expression of NCBI curation C3887923 123270 16 Feb 2016 Disease Creatine transporter deficiency MONDO C1845862 MONDO:0010305 300352 17 Apr 2020 Disease Creatinine clearance quantitative trait locus NCBI curation C1846718 607135 16 Feb 2016 Disease Cree mental retardation syndrome NCBI curation C1847361 606851 16 Feb 2016 Disease Creeping myiasis C1562462 16 Feb 2016 Infectious disease Crescentic glomerulonephritis Human Phenotype Ontology C0403416 HP:0008653 16 Feb 2016 Finding Crescentic glomerulonephritis (disease) MONDO MONDO:0001645 17 Apr 2020 Disease CREST syndrome NCBI curation C0206138 16 Feb 2016 Disease Cretinism 16 Feb 2016 Disease Cretinism athyreotic 16 Feb 2016 Disease Creutzfeldt-Jakob disease, Heidenhain variant NCBI curation 16 Feb 2016 Disease Creutzfeldt-Jakob disease, sporadic NCBI curation C1852467 16 Feb 2016 Infectious disease Cribiform Papillary Thyroid Carcinoma 22 Jul 2019 Finding Cribriform carcinoma of breast MONDO MONDO:0045059 17 Apr 2020 Disease Cribriform variant testicular seminoma MONDO C1515292 MONDO:0004168 17 Apr 2020 Disease cricopharyngeal bar C0341144 18 Jan 2019 Finding Crigler-Najjar syndrome NCBI curation C0010324 16 Feb 2016 Disease Crigler-Najjar syndrome type 1 MONDO CN029644 MONDO:0021020 218800 22 Apr 2020 Disease Crigler-Najjar syndrome, type II C2931132 606785 16 Feb 2016 Disease Crimean-Congo hemorrhagic fever MONDO C0019099 MONDO:0020501 04 Jun 2020 Infectious disease Crimped helix Human Phenotype Ontology C4021178 HP:0011262 16 Feb 2016 Finding Crisponi/Cold-induced sweating syndrome 30 Jun 2019 Disease Criss-cross atrioventricular valves Human Phenotype Ontology C4023310 HP:0011541 16 Feb 2016 Finding Criss-cross atrioventricular valves with superior-inferior ventricles Human Phenotype Ontology C4023309 HP:0011542 16 Feb 2016 Finding Criss-cross heart MONDO C0010334 MONDO:0015449 17 Apr 2020 Disease Critical illness polyneuropathy MONDO C0393851 MONDO:0001957 17 Apr 2020 Disease Crohn disease NCBI curation CN043071 06 Jul 2018 Disease Crohn disease of the esophagus MONDO C0341116 MONDO:0022901 17 Apr 2020 Disease Crohn disease, association with NCBI curation C1970129 16 Feb 2016 Disease Crohn disease-associated growth failure, susceptibility to NCBI curation C2675113 16 Feb 2016 Disease Crohn ileitis MONDO C0267380 MONDO:0000709 17 Apr 2020 Disease Crohn jejunitis MONDO C0267379 MONDO:0021207 17 Apr 2020 Disease Crohn jejunoileitis MONDO MONDO:0000708 17 Apr 2020 Disease Crohn's colitis MONDO MONDO:0005532 17 Apr 2020 Disease Crohn's disease Human Phenotype Ontology C0010346 HP:0100280 16 Feb 2016 Finding Crohn's disease of the esophagus 16 Feb 2016 Disease Cromer blood group system NCBI curation C1292305 613793 16 Feb 2016 Blood group CROMER BLOOD GROUP SYSTEM, Dr(a-) PHENOTYPE 13 Aug 2017 Disease Cronkhite-Canada disease C0238386 16 Feb 2016 Disease Cronkhite-Canada syndrome C0282207 175500 16 Feb 2016 Disease Cross syndrome C2936910 257800 16 Feb 2016 Disease Cross-fusion of the forearm bones Human Phenotype Ontology C4025480 HP:0003958 16 Feb 2016 Finding Crossed fused renal ectopia Human Phenotype Ontology C1835796 HP:0004736 16 Feb 2016 Finding Crossed polydactyly type 1 16 Feb 2016 Disease CROSSED POLYDACTYLY, TYPE I 16 Feb 2016 Disease Croup MONDO C0010380 MONDO:0005722 04 Jun 2020 Infectious disease Crouzon syndrome Human Phenotype Ontology C2931196 HP:0004439 123500 10 Apr 2018 Disease Crouzon syndrome with acanthosis nigricans NCBI curation C2677099 612247 16 Feb 2016 Disease Crowded carpal bones Human Phenotype Ontology C1863317 HP:0006180 16 Feb 2016 Finding Crowded maxillary incisors Human Phenotype Ontology C4021602 HP:0006333 16 Feb 2016 Finding Crumpled ear Human Phenotype Ontology C4024166 HP:0009901 16 Feb 2016 Finding Crumpled helices and small mouth C1853826 605945 16 Feb 2016 Disease Crumpled humerus Human Phenotype Ontology C4025540 HP:0003870 16 Feb 2016 Finding Crumpled long bones Human Phenotype Ontology C1970497 HP:0006367 16 Feb 2016 Finding Crus of helix connected to antihelix Human Phenotype Ontology C4021184 HP:0011256 16 Feb 2016 Finding Crush syndrome MONDO C0010392 MONDO:0043549 17 Apr 2020 Disease Crustacean allergy MONDO MONDO:0000799 17 Apr 2020 Disease Crusting erythematous dermatitis Human Phenotype Ontology C1868496 HP:0007473 16 Feb 2016 Finding Cryofibrinogenemia C0272263 16 Feb 2016 Disease Cryofibrinogenemia, familial primary NCBI curation C1852457 123540 16 Feb 2016 Disease Cryoglobulinemia Human Phenotype Ontology C0010403 HP:0100778 16 Feb 2016 Disease Cryoglobulinemic vasculitis MONDO C1852456 MONDO:0007407 123550 17 Apr 2020 Disease Cryopyrin associated periodic syndrome NCBI curation C2316212 24 Dec 2017 Disease cryptochordism CN234769 16 Feb 2016 Finding Cryptococcal meningitis MONDO C0085436 MONDO:0005723 04 Jun 2020 Infectious disease Cryptococcosis C0010414 16 Feb 2016 Infectious disease Cryptogenic late-onset epileptic spasms MONDO C4755310 MONDO:0015585 17 Apr 2020 Disease Cryptogenic multifocal ulcerous stenosing enteritis MONDO C4302263 MONDO:0018765 17 Apr 2020 Disease Cryptogenic Organizing Pneumonia 16 Feb 2016 Disease Cryptomicrotia-brachydactyly-excess fingertip arch syndrome MONDO C1852454 MONDO:0007409 123560 22 Apr 2020 Disease Cryptophthalmia MONDO C0311249 MONDO:0020153 17 Apr 2020 Disease Cryptophthalmos syndrome NCBI curation C0265233 25 Jan 2020 Disease Cryptophthalmos, unilateral or bilateral, isolated NCBI curation C1852453 123570 16 Feb 2016 Disease cryptorchid 22 Aug 2019 Finding Cryptorchidism Human Phenotype Ontology C0010417 HP:0000028 219050 04 Apr 2018 Disease Cryptorchidism arachnodactyly mental retardation 16 Feb 2016 Disease Cryptorchidism-arachnodactyly-intellectual disability syndrome MONDO C4707233 MONDO:0015473 17 Apr 2020 Disease Cryptorchidsim CN235522 15 Mar 2016 Finding Cryptosporidiosis C0010418 16 Feb 2016 Infectious disease Cryptotia Human Phenotype Ontology C2315717 HP:0011252 16 Feb 2016 Finding Cryptotia, familial NCBI curation C1852455 123557 16 Feb 2016 Disease Cryptozoospermia Human Phenotype Ontology C3279550 HP:0030974 04 Apr 2018 Finding Crystal arthropathy MONDO C0152087 MONDO:0022208 17 Apr 2020 Disease Crystal deposit disease 16 Feb 2016 Disease CSF lymphocytic pleiocytosis Human Phenotype Ontology C0427877 HP:0200149 16 Feb 2016 Finding CSF pleocytosis Human Phenotype Ontology C0151857 HP:0012229 16 Feb 2016 Finding CSF polymorphonuclear pleocytosis Human Phenotype Ontology C4022740 HP:0012756 16 Feb 2016 Finding CSNK2A1- Related Disorders 13 Oct 2017 Disease CSRP3-Related Disorders 23 May 2019 Disease CTNNB1-related syndromic intellectual disability 21 May 2020 Disease CTSC-Related Disorders CN239272 02 Dec 2016 Disease Cubital tunnel syndrome MONDO MONDO:0043982 17 Apr 2020 Disease Cubitus valgus Human Phenotype Ontology C0158465 HP:0002967 16 Feb 2016 Finding Cubitus valgus with mental retardation and unusual facies NCBI curation C1845450 300471 16 Feb 2016 Disease Cubitus varus Human Phenotype Ontology C0158466 HP:0025317 02 Apr 2017 Finding Cuboid-shaped thoracolumbar vertebral bodies Human Phenotype Ontology C1855289 HP:0008425 16 Feb 2016 Finding Cuboid-shaped vertebral bodies Human Phenotype Ontology C2673653 HP:0004634 16 Feb 2016 Finding Cuboidal metacarpal Human Phenotype Ontology C4025093 HP:0006011 16 Feb 2016 Finding Culler-Jones syndrome NCBI curation C4014479 615849 26 Aug 2016 Disease CUP (carcinoma unknown primary) syndrome 22 Nov 2017 Disease CUP syndrome 22 Nov 2017 Finding cup-shape ears 21 Jun 2020 Finding Cupped ear Human Phenotype Ontology C1845447 HP:0000378 16 Feb 2016 Finding Cupped metaphyses of hand bones Human Phenotype Ontology C4025377 HP:0004273 16 Feb 2016 Finding Cupped metaphyses of the upper limbs Human Phenotype Ontology C4025555 HP:0003848 16 Feb 2016 Finding Cupped radial metaphyses Human Phenotype Ontology C4025443 HP:0004016 16 Feb 2016 Finding Cupped ribs Human Phenotype Ontology C1865039 HP:0000887 16 Feb 2016 Finding Cupped ulnar metaphysis Human Phenotype Ontology C4025422 HP:0004041 16 Feb 2016 Finding Curly eyelashes Human Phenotype Ontology C2673670 HP:0007665 16 Feb 2016 Finding Curly hair Human Phenotype Ontology C0558165 HP:0002212 16 Feb 2016 Finding Curly hair - acral keratoderma - caries syndrome MONDO C1843291 MONDO:0011883 607656 17 Apr 2020 Disease Curly hair, ankyloblepharon, nail dysplasia syndrome C0406733 214350 16 Feb 2016 Disease Currarino idiopathic osteoarthropathy NCBI curation 16 Feb 2016 Disease Currarino triad C1531773 176450 16 Feb 2016 Disease Curry-Hall syndrome C0457013 193530 16 Feb 2016 Disease Curry-Jones syndrome MONDO C0795915 MONDO:0011134 601707 22 Apr 2020 Disease Curtis Rogers Stevenson syndrome 16 Feb 2016 Disease Curved 1st metacarpal Human Phenotype Ontology C4024095 HP:0010029 16 Feb 2016 Finding Curved 1st metatarsal Human Phenotype Ontology C4024074 HP:0010070 16 Feb 2016 Finding Curved 2nd toe phalanx Human Phenotype Ontology C4021288 HP:0010350 16 Feb 2016 Finding Curved 3rd toe phalanx Human Phenotype Ontology C4021284 HP:0010362 16 Feb 2016 Finding Curved 4th toe phalanx Human Phenotype Ontology C4021280 HP:0010374 16 Feb 2016 Finding Curved 5th toe phalanx Human Phenotype Ontology C4021276 HP:0010386 16 Feb 2016 Finding curved and round nails 22 Aug 2019 Finding Curved distal phalanges of the hand Human Phenotype Ontology C4024188 HP:0009838 16 Feb 2016 Finding Curved distal phalanx of the 2nd finger Human Phenotype Ontology C4024291 HP:0009560 16 Feb 2016 Finding Curved distal phalanx of the 2nd toe Human Phenotype Ontology C4023840 HP:0010416 16 Feb 2016 Finding Curved distal phalanx of the 3rd finger Human Phenotype Ontology C4024369 HP:0009428 16 Feb 2016 Finding Curved distal phalanx of the 3rd toe Human Phenotype Ontology C4022078 HP:0100449 16 Feb 2016 Finding Curved distal phalanx of the 4th finger Human Phenotype Ontology C4024469 HP:0009286 16 Feb 2016 Finding Curved distal phalanx of the 4th toe Human Phenotype Ontology C4022077 HP:0100450 16 Feb 2016 Finding Curved distal phalanx of the 5th finger Human Phenotype Ontology C4021672 HP:0004226 16 Feb 2016 Finding Curved distal phalanx of the 5th toe Human Phenotype Ontology C4022076 HP:0100451 16 Feb 2016 Finding Curved distal phalanx of the hallux Human Phenotype Ontology C4024066 HP:0010079 16 Feb 2016 Finding Curved distal phalanx of the thumb Human Phenotype Ontology C4024259 HP:0009644 16 Feb 2016 Finding Curved distal toe phalanx Human Phenotype Ontology C4021324 HP:0010188 16 Feb 2016 Finding Curved fingers Human Phenotype Ontology C4025413 HP:0004095 16 Feb 2016 Finding Curved hallux phalanx Human Phenotype Ontology C4021341 HP:0010061 16 Feb 2016 Finding Curved linear dimple below the lower lip Human Phenotype Ontology C1844572 HP:0002055 16 Feb 2016 Finding Curved middle phalanges of the hand Human Phenotype Ontology C4024186 HP:0009846 16 Feb 2016 Finding Curved middle phalanx of the 2nd finger Human Phenotype Ontology C4024286 HP:0009571 16 Feb 2016 Finding Curved middle phalanx of the 2nd toe Human Phenotype Ontology C4023848 HP:0010407 16 Feb 2016 Finding Curved middle phalanx of the 3rd finger Human Phenotype Ontology C4024366 HP:0009432 16 Feb 2016 Finding Curved middle phalanx of the 3rd toe Human Phenotype Ontology C4022084 HP:0100443 16 Feb 2016 Finding Curved middle phalanx of the 4th finger Human Phenotype Ontology C4024468 HP:0009287 16 Feb 2016 Finding Curved middle phalanx of the 4th toe Human Phenotype Ontology C4022083 HP:0100444 16 Feb 2016 Finding Curved middle phalanx of the 5th finger Human Phenotype Ontology C4024557 HP:0009173 16 Feb 2016 Finding Curved middle phalanx of the 5th toe Human Phenotype Ontology C4022082 HP:0100445 16 Feb 2016 Finding Curved middle toe phalanx Human Phenotype Ontology C4021320 HP:0010197 16 Feb 2016 Finding Curved nail of fourth toe NCBI curation C1857452 219070 16 Feb 2016 Disease Curved olecranon Human Phenotype Ontology C4025429 HP:0004033 16 Feb 2016 Finding Curved phalanges of the 2nd finger Human Phenotype Ontology C4024299 HP:0009549 16 Feb 2016 Finding Curved phalanges of the 3rd finger Human Phenotype Ontology C4024359 HP:0009442 16 Feb 2016 Finding Curved phalanges of the 4th finger Human Phenotype Ontology C4024470 HP:0009285 16 Feb 2016 Finding Curved phalanges of the 5th finger Human Phenotype Ontology C4025407 HP:0004214 16 Feb 2016 Finding Curved phalanges of the hand Human Phenotype Ontology C4024211 HP:0009770 16 Feb 2016 Finding Curved proximal phalanges of the hand Human Phenotype Ontology C4024179 HP:0009854 16 Feb 2016 Finding Curved proximal phalanx of the 2nd finger Human Phenotype Ontology C4024279 HP:0009583 16 Feb 2016 Finding Curved proximal phalanx of the 2nd toe Human Phenotype Ontology C4023856 HP:0010398 16 Feb 2016 Finding Curved proximal phalanx of the 3rd finger Human Phenotype Ontology C4024353 HP:0009452 16 Feb 2016 Finding Curved proximal phalanx of the 3rd toe Human Phenotype Ontology C4022081 HP:0100446 16 Feb 2016 Finding Curved proximal phalanx of the 4th finger Human Phenotype Ontology C4024467 HP:0009288 16 Feb 2016 Finding Curved proximal phalanx of the 4th toe Human Phenotype Ontology C4022080 HP:0100447 16 Feb 2016 Finding Curved proximal phalanx of the 5th finger Human Phenotype Ontology C4024515 HP:0009229 16 Feb 2016 Finding Curved proximal phalanx of the 5th toe Human Phenotype Ontology C4022079 HP:0100448 16 Feb 2016 Finding Curved proximal phalanx of the hallux Human Phenotype Ontology C4024059 HP:0010088 16 Feb 2016 Finding Curved proximal phalanx of the thumb Human Phenotype Ontology C4024265 HP:0009632 16 Feb 2016 Finding Curved proximal toe phalanx Human Phenotype Ontology C4021315 HP:0010206 16 Feb 2016 Finding Curved thumb phalanx Human Phenotype Ontology C4021414 HP:0009653 16 Feb 2016 Finding Curved toe phalanx Human Phenotype Ontology C4021330 HP:0010176 16 Feb 2016 Finding Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Human Phenotype Ontology C1836852 HP:0003205 16 Feb 2016 Finding Cushing syndrome due to macronodular adrenal hyperplasia MONDO C2062388 MONDO:0009049 17 Apr 2020 Disease Cushing syndrome, familial CN036793 16 Feb 2016 Disease Cushing's syndrome NCBI curation C1857451 219080 16 Feb 2016 Disease Cutaneous abscess Human Phenotype Ontology C0149777 HP:0031292 04 Apr 2018 Finding Cutaneous adenocystic carcinoma MONDO C0346017 MONDO:0003180 17 Apr 2020 Disease Cutaneous amyloidosis Human Phenotype Ontology C0268397 HP:0012309 16 Feb 2016 Disease Cutaneous anergy Human Phenotype Ontology C1855781 HP:0002965 16 Feb 2016 Finding Cutaneous angiolipomas Human Phenotype Ontology C4024980 HP:0006773 16 Feb 2016 Finding Cutaneous anthrax C0003177 16 Feb 2016 Infectious disease Cutaneous atresia of the external auditory canal Human Phenotype Ontology C4022440 HP:0040101 16 Feb 2016 Finding Cutaneous basidiobolomycosis MONDO C0343966 MONDO:0045038 04 Jun 2020 Infectious disease Cutaneous candidiasis MONDO C0006846 MONDO:0000879 04 Jun 2020 Infectious disease Cutaneous collagenous vasculopathy MONDO C4305323 MONDO:0017242 17 Apr 2020 Disease Cutaneous cyst Human Phenotype Ontology C0241060 HP:0025245 02 Apr 2017 Finding Cutaneous diphtheria MONDO C0012555 MONDO:0001479 04 Jun 2020 Infectious disease Cutaneous fibrous histiocytoma MONDO C0002991 MONDO:0006717 17 Apr 2020 Disease Cutaneous finger syndactyly Human Phenotype Ontology C4021254 HP:0010554 16 Feb 2016 Finding Cutaneous focal mucinosis MONDO C0406659 MONDO:0021653 17 Apr 2020 Disease Cutaneous ganglioneuroma MONDO C0346063 MONDO:0002293 17 Apr 2020 Disease Cutaneous glomangioma MONDO C1275226 MONDO:0002298 17 Apr 2020 Disease Cutaneous glomangiomyoma MONDO C1275227 MONDO:0024325 17 Apr 2020 Disease Cutaneous granular cell tumor MONDO C0346060 MONDO:0002291 17 Apr 2020 Disease Cutaneous hamartoma Human Phenotype Ontology C1302724 HP:0031111 04 Apr 2018 Finding Cutaneous hyalinosis 19 Jun 2019 Finding Cutaneous larva migrans C0546999 16 Feb 2016 Infectious disease Cutaneous leiomyoma Human Phenotype Ontology C0346064 HP:0007620 16 Feb 2016 Finding Cutaneous leiomyosarcoma Human Phenotype Ontology C0346067 HP:0006755 16 Feb 2016 Finding Cutaneous leishmaniasis MONDO C0023283 MONDO:0005446 04 Jun 2020 Infectious disease Cutaneous leukocytoclastic angiitis MONDO C0151436 MONDO:0019509 22 Apr 2020 Disease Cutaneous liposarcoma MONDO C1333175 MONDO:0003600 17 Apr 2020 Disease Cutaneous lupus erythematosus C0024137 16 Feb 2016 Disease Cutaneous malignant melanoma 1 NCBI curation C1835047 155600 16 Feb 2016 Disease Cutaneous malignant melanoma 2 NCBI curation C1835044 155601 16 Feb 2016 Disease Cutaneous malignant melanoma 3 NCBI curation C1836892 609048 16 Feb 2016 Disease Cutaneous malignant melanoma 4 NCBI curation C1842643 608035 16 Feb 2016 Disease Cutaneous malignant melanoma 5 NCBI curation C2751295 613099 16 Feb 2016 Disease Cutaneous malignant melanoma 6 NCBI curation C3151417 613972 16 Feb 2016 Disease Cutaneous malignant melanoma 7 NCBI curation C2677089 612263 16 Feb 2016 Disease Cutaneous malignant melanoma 8 NCBI curation C3152204 614456 16 Feb 2016 Disease Cutaneous malignant melanoma 9 NCBI curation C3554574 615134 16 Feb 2016 Disease Cutaneous Malignant Melanoma, Dominant CN239351 02 Dec 2016 Disease Cutaneous mastocytoma MONDO C0343115 MONDO:0019314 17 Apr 2020 Disease Cutaneous mastocytosis Human Phenotype Ontology C1136033 HP:0200151 16 Feb 2016 Disease Cutaneous melanoma Human Phenotype Ontology C0025202 HP:0012056 10 May 2018 Disease Cutaneous mucinosis MONDO C0162855 MONDO:0002523 17 Apr 2020 Disease Cutaneous mucoepidermoid carcinoma MONDO C0346019 MONDO:0003091 17 Apr 2020 Disease Cutaneous mycosis MONDO CN281913 MONDO:0000254 04 Jun 2020 Infectious disease Cutaneous myiasis MONDO C0027031 MONDO:0020568 04 Jun 2020 Infectious disease Cutaneous myxoma Human Phenotype Ontology C1333178 HP:0030428 16 Feb 2016 Finding Cutaneous neuroendocrine carcinoma MONDO C0007129 MONDO:0019210 17 Apr 2020 Disease Cutaneous Paget disease MONDO MONDO:0002655 17 Apr 2020 Disease Cutaneous photosensitivity Human Phenotype Ontology C0349506 HP:0000992 16 Feb 2016 Finding Cutaneous photosensitivity-lethal colitis syndrome MONDO C1857449 MONDO:0009051 219095 17 Apr 2020 Disease Cutaneous polyarteritis nodosa C0343190 16 Feb 2016 Disease Cutaneous schistosomiasis NCBI curation C0546996 16 Feb 2016 Infectious disease Cutaneous sclerosis 16 Feb 2016 Disease Cutaneous sclerotic plaque Human Phenotype Ontology C4531175 HP:0031359 04 Apr 2018 Finding Cutaneous solitary mastocytoma MONDO MONDO:0002726 17 Apr 2020 Disease Cutaneous stenosis of the external auditory canal Human Phenotype Ontology C4022438 HP:0040103 16 Feb 2016 Finding Cutaneous syndactyly Human Phenotype Ontology C1861921 HP:0012725 16 Feb 2016 Finding cutaneous syndactyly 2-3 and 3-4 on left foot 22 Aug 2019 Finding Cutaneous syndactyly between fingers 2 and 5 Human Phenotype Ontology C4025165 HP:0005650 16 Feb 2016 Finding Cutaneous syndactyly of toes Human Phenotype Ontology C1834737 HP:0010621 16 Feb 2016 Finding Cutaneous syphilis MONDO C0039132 MONDO:0006718 04 Jun 2020 Infectious disease Cutaneous telangiectasia and cancer syndrome, familial NCBI curation C3281203 614564 16 Feb 2016 Disease Cutaneous tuberculosis MONDO C0041309 MONDO:0021948 04 Jun 2020 Infectious disease Cutaneous undifferentiated pleomorphic sarcoma MONDO C1275254 MONDO:0002141 17 Apr 2020 Disease Cutaneous vascularitis 16 Feb 2016 Disease Cutis gyrata of scalp Human Phenotype Ontology C0263417 HP:0010541 16 Feb 2016 Finding Cutis gyratum acanthosis nigricans craniosynostosis 16 Feb 2016 Disease Cutis laxa OMIM phenotypic series C0010495 PS123700 16 Feb 2016 Disease Cutis laxa Human Phenotype Ontology C0010495 HP:0000973 16 Feb 2016 Disease Cutis laxa osteoporosis 16 Feb 2016 Disease Cutis Laxa Syndrome 13 Oct 2017 Disease Cutis laxa with osteodystrophy C0268355 219200 16 Feb 2016 Disease Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities NCBI curation C2750804 613177 16 Feb 2016 Disease Cutis laxa, autosomal dominant C0268350 12 May 2017 Disease Cutis laxa, autosomal dominant 1 NCBI curation C3276539 123700 12 May 2017 Disease Cutis laxa, autosomal dominant 2 NCBI curation C3280794 614434 16 Feb 2016 Disease Cutis laxa, autosomal dominant 3 NCBI curation C4225268 616603 16 Feb 2016 Disease Cutis laxa, autosomal recessive NCBI curation C3665335 16 Feb 2016 Disease Cutis laxa, autosomal recessive IIIA NCBI curation CN029699 219150 31 May 2020 Disease Cutis Laxa, Dominant/Recessive CN239277 02 Dec 2016 Disease Cutis laxa, neonatal, with marfanoid phenotype NCBI curation C0432335 614100 16 Feb 2016 Disease Cutis laxa, recessive C2931134 16 Feb 2016 Disease Cutis laxa, recessive type 2 16 Feb 2016 Disease Cutis laxa, X-linked C0268353 304150 16 Feb 2016 Disease Cutis marmorata Human Phenotype Ontology C0263401 HP:0000965 16 Feb 2016 Finding cutis marmorata telangiectasia congenita 13 Oct 2017 Finding Cutis marmorata telangiectatica congenita Human Phenotype Ontology CN241198 HP:0025107 02 Apr 2017 Finding Cutis verticis gyrata 16 Feb 2016 Disease Cutis verticis gyrata and mental retardation NCBI curation C1857444 219300 16 Feb 2016 Disease Cutis verticis gyrata mental deficiency 16 Feb 2016 Disease Cutis verticis gyrata, thyroid aplasia, and mental retardation NCBI curation C0795848 304200 16 Feb 2016 Disease Cutler Bass Romshe syndrome 16 Feb 2016 Disease Cvs-plus NCBI curation 16 Feb 2016 Disease Cyanide poisoning MONDO MONDO:0018754 17 Apr 2020 Disease Cyanide, inability to smell NCBI curation C1844681 304300 16 Feb 2016 Disease Cyanide-induced parkinsonism MONDO CN203536 MONDO:0017640 17 Apr 2020 Disease Cyanosis Human Phenotype Ontology C0010520 HP:0000961 16 Feb 2016 Finding Cyanosis and hepatic disease NCBI curation C1857443 219400 16 Feb 2016 Disease Cyanosis, transient neonatal NCBI curation C3151421 613977 16 Feb 2016 Disease Cyanotic episode Human Phenotype Ontology C0578475 HP:0200048 16 Feb 2016 Finding CYBA POLYMORPHISM 16 Feb 2016 Disease Cyclic neutropenia Human Phenotype Ontology CN244456 HP:0040289 04 Apr 2018 Finding Cyclic thrombocytopenia C0272282 188020 16 Feb 2016 Disease Cyclic vomiting syndrome with neuromuscular disease NCBI curation 16 Feb 2016 Disease Cyclical neutropenia C0221023 162800 16 Feb 2016 Disease Cyclical vomiting syndrome C0152164 500007 16 Feb 2016 Disease cyclophosphamide and epirubicin response - Efficacy, Toxicity/ADR PharmGKB CN236473 981238323 18 May 2016 Pharmacological response cyclophosphamide response - Efficacy PharmGKB CN236517 655384534 18 May 2016 Pharmacological response cyclophosphamide response - Efficacy, Toxicity/ADR PharmGKB CN236518 655386635 18 May 2016 Pharmacological response cyclophosphamide response - Toxicity/ADR PharmGKB CN236519 981204929 18 May 2016 Pharmacological response Cyclopia Human Phenotype Ontology C0266667 HP:0009914 16 Feb 2016 Disease Cycloplegia MONDO C0235238 MONDO:0005555 17 Apr 2020 Disease Cyclosporiasis 16 Feb 2016 Disease Cyclosporine response NCBI curation CN226434 16 Feb 2016 Pharmacological response cyclosporine response - Dosage, Metabolism/PK PharmGKB CN236520 655387053 18 May 2016 Pharmacological response cyclothymic disorder 05 Sep 2019 Finding Cyclotropia MONDO C0152209 MONDO:0004894 17 Apr 2020 Disease Cylindroma Human Phenotype Ontology C1305968 HP:0031024 04 Apr 2018 Finding Cylindromatosis, familial NCBI curation C1851526 132700 16 Feb 2016 Disease Cylindruria Human Phenotype Ontology C0151990 HP:0012615 16 Feb 2016 Finding CYP1B1-Related Disorders CN239260 02 Dec 2016 Disease CYP2A6*12A 16 Feb 2016 Named protein variant CYP2A6*3 16 Feb 2016 Named protein variant CYP2A6*4A 16 Feb 2016 Named protein variant Cyp2a6, v2 NCBI curation 16 Feb 2016 Disease CYP2C19-related poor drug metabolism NCBI curation C1836023 609535 16 Feb 2016 Pharmacological response CYP2C19: decreased function Clinical Pharmacogenetics Implementation Consortium PA166128340 14 Jun 2019 Pharmacological response CYP2C19: increased function Clinical Pharmacogenetics Implementation Consortium PA166128332 14 Jun 2019 Pharmacological response CYP2C19: no function Clinical Pharmacogenetics Implementation Consortium PA166160952 14 Jun 2019 Pharmacological response CYP2C19: normal function Clinical Pharmacogenetics Implementation Consortium PA166128337 14 Jun 2019 Pharmacological response CYP2C19: uncertain function Clinical Pharmacogenetics Implementation Consortium PA166160951 14 Jun 2019 Pharmacological response CYP2C8 HAPLOTYPE POLYMORPHISM 22 Jun 2018 Disease CYP2C8 POLYMORPHISM 22 Jun 2018 Disease CYP2E1*5B ALLELE 16 Feb 2016 Named protein variant CYP2E1*6 ALLELE 16 Feb 2016 Named protein variant CYP3A4 PROMOTER POLYMORPHISM 16 Feb 2016 Disease Cyp3a4-v NCBI curation 16 Feb 2016 Disease CYP4V2-Related Disorders 23 May 2019 Disease Cyprus facial-neuromusculoskeletal syndrome MONDO C1852396 MONDO:0007413 123853 22 Apr 2020 Disease Cyst - pilonidal C0031925 173000 16 Feb 2016 Disease Cyst of the ductus choledochus Human Phenotype Ontology C0008340 HP:0100890 603003 16 Feb 2016 Disease Cyst of the eyelid Human Phenotype Ontology C0155218 HP:0010604 16 Feb 2016 Finding Cystadenofibroma MONDO MONDO:0003464 17 Apr 2020 Disease Cystadenoma MONDO C0010633 MONDO:0002369 17 Apr 2020 Disease CYSTATHIONINE BETA-SYNTHETASE POLYMORPHISM 16 Feb 2016 Disease Cystathioninemia Human Phenotype Ontology C0268618 HP:0003286 16 Feb 2016 Finding Cystathioninuria Human Phenotype Ontology C0220993 HP:0003153 219500 16 Feb 2016 Disease Cysteine peptiduria NCBI curation C1857438 219550 16 Feb 2016 Disease Cystic adenomatoid malformation of lung 16 Feb 2016 Disease Cystic angiomatosis of bone Human Phenotype Ontology C4021749 HP:0002833 16 Feb 2016 Finding Cystic artery pseudoaneurysm Human Phenotype Ontology C4022601 HP:0030170 16 Feb 2016 Finding Cystic disease of lung MONDO C1384901 MONDO:0009060 219600 17 Apr 2020 Disease Cystic epithelial invagination containing papillae lined by columnar epithelium 12 Jul 2018 Disease Cystic fibrosis NCBI curation C0010674 219700 06 Jul 2018 Disease Cystic fibrosis associated meconium ileus MONDO MONDO:0005413 17 Apr 2020 Disease Cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation NCBI curation C3806255 219721 24 Aug 2016 Disease Cystic Fibrosis-Like Syndrome CN239358 02 Dec 2016 Disease Cystic hamartoma of lung and kidney 16 Feb 2016 Disease Cystic hygroma Human Phenotype Ontology C0206620 HP:0000476 16 Feb 2016 Disease Cystic hygroma lethal cleft palate 16 Feb 2016 Disease Cystic hygroma; multicystic kidney dysplasia 16 Feb 2016 Finding Cystic lesions of the pinnae Human Phenotype Ontology C4023720 HP:0010723 16 Feb 2016 Finding Cystic Leukoencephalopathy 03 Aug 2017 Disease Cystic liver disease Human Phenotype Ontology C4551631 HP:0006706 16 Feb 2016 Disease Cystic malformation of the posterior fossa MONDO MONDO:0020134 17 Apr 2020 Disease Cystic medial necrosis Human Phenotype Ontology C4551473 HP:0012180 16 Feb 2016 Finding Cystic medial necrosis of the aorta Human Phenotype Ontology C0392775 HP:0200146 16 Feb 2016 Finding Cystic neoplasm MONDO C1333190 MONDO:0021077 17 Apr 2020 Disease Cystic parathyroid adenoma NCBI curation C4017087 16 Feb 2016 Disease Cystic partially differentiated nephroblastoma MONDO C1266139 MONDO:0030604 17 Apr 2020 Disease Cystic pattern on pulmonary HRCT Human Phenotype Ontology C4476752 HP:0025394 04 Apr 2018 Finding Cystic renal cell carcinoma MONDO MONDO:0005597 17 Apr 2020 Disease Cystic renal dysplasia Human Phenotype Ontology C1834931 HP:0000800 16 Feb 2016 Finding Cystic retinal degeneration Human Phenotype Ontology C1839362 HP:0007667 16 Feb 2016 Finding Cystic teratoma MONDO C1368903 MONDO:0002379 17 Apr 2020 Disease Cystic tumor of the pancreas MONDO MONDO:0044880 17 Apr 2020 Disease Cystic, mucinous, and serous neoplasm MONDO MONDO:0006720 17 Apr 2020 Disease Cysticercosis C0010678 16 Feb 2016 Infectious disease Cystin transport, protein defect of 16 Feb 2016 Disease Cystine urolithiasis NCBI curation C3671878 11 Jan 2020 Disease Cystinosis C4316899 16 Feb 2016 Disease Cystinosis, atypical nephropathic NCBI curation C2749685 16 Feb 2016 Disease Cystinosis, infantile nephropathic NCBI curation 16 Feb 2016 Disease Cystinuria Human Phenotype Ontology C0010691 HP:0003131 220100 16 Feb 2016 Disease Cystinuria type A MONDO C1857388 MONDO:0019745 22 Apr 2020 Disease Cystinuria type B MONDO C1857389 MONDO:0019746 22 Apr 2020 Disease Cystinuria, type a/b C1857390 26 May 2016 Disease Cystinuria-lysinuria 16 Feb 2016 Disease Cystitis cystica MONDO C0152262 MONDO:0004118 17 Apr 2020 Disease Cystocele Human Phenotype Ontology C1394494 HP:0100645 16 Feb 2016 Finding Cystoid macular degeneration Human Phenotype Ontology C0154850 HP:0008028 16 Feb 2016 Finding Cystoid macular edema Human Phenotype Ontology C0024440 HP:0011505 153880 16 Feb 2016 Disease Cysts and fistulae of the face and oral cavity MONDO CN228948 MONDO:0015476 17 Apr 2020 Disease CYTOCHROME b-POSITIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED 16 Feb 2016 Disease Cytochrome c oxidase i deficiency NCBI curation C4016602 16 Feb 2016 Disease Cytochrome C oxidase-negative muscle fibers Human Phenotype Ontology C4021724 HP:0003688 04 Apr 2018 Finding Cytokine deficiency 16 Feb 2016 Disease Cytokine receptor deficiency 16 Feb 2016 Disease Cytomegalic inclusion disease 16 Feb 2016 Disease Cytomegalovirus infection C0010823 16 Feb 2016 Infectious disease Cytomegalovirus pneumonia MONDO C0276253 MONDO:0024354 04 Jun 2020 Infectious disease Cytomegalovirus retinitis CN281805 16 Feb 2016 Infectious disease Cytopenia NCBI curation 16 Feb 2016 Disease Cytophagic histiocytic panniculitis MONDO C0406594 MONDO:0019789 17 Apr 2020 Disease Cytoplasmic body myopathy 16 Feb 2016 Disease Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder MONDO C5193061 MONDO:0018794 07 Jun 2020 Disease Czech dysplasia, metatarsal type MONDO C1836683 MONDO:0012206 609162 22 Apr 2020 Disease Czeizel Losonci syndrome 16 Feb 2016 Disease D ercole syndrome 16 Feb 2016 Disease D-2-hydroxyglutaric acidemia Human Phenotype Ontology C4022415 HP:0040146 16 Feb 2016 Finding D-2-hydroxyglutaric aciduria Human Phenotype Ontology C1833429 HP:0012321 16 Feb 2016 Disease D-2-hydroxyglutaric aciduria 1 NCBI curation C3152055 600721 16 Feb 2016 Disease D-2-hydroxyglutaric aciduria 2 NCBI curation C3150909 613657 16 Feb 2016 Disease D-Glyceric aciduria NCBI curation C0342765 27 Apr 2018 Disease D-minus hemolytic uremic syndrome (D-HUS) CN072395 16 Feb 2016 Disease D-plus hemolytic uremic syndrome (D+HUS) CN072396 16 Feb 2016 Disease d-TGA 19 Jan 2019 Finding Dabrafenib response NCBI curation CN239586 27 Dec 2016 Pharmacological response Dacryoadenitis MONDO C0155223 MONDO:0004804 17 Apr 2020 Disease Dacryocystitis Human Phenotype Ontology C0010930 HP:0000620 02 Apr 2017 Finding Dacryocystitis-osteopoikilosis syndrome MONDO C1833698 MONDO:0008158 166705 17 Apr 2020 Disease Dacryocystocele Human Phenotype Ontology C0155241 HP:0030752 02 Apr 2017 Finding Dacrystic seizures Human Phenotype Ontology C4023693 HP:0010820 16 Feb 2016 Finding DACT1-related neural tube defects 01 Jun 2018 Disease Daentl Towsend Siegel syndrome 16 Feb 2016 Disease Dagger-shaped pulp calcifications Human Phenotype Ontology C4025067 HP:0006302 16 Feb 2016 Finding Dahlberg-borer-Newcomer syndrome MONDO C1855477 MONDO:0009533 247410 22 Apr 2020 Disease Dandy-Walker complex 16 Feb 2016 Disease Dandy-Walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis 16 Feb 2016 Disease Dandy-Walker malformation with facial hemangioma 16 Feb 2016 Disease Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia C2931823 16 Feb 2016 Disease Dandy-walker malformation with occipital cephalocele, autosomal dominant NCBI curation C2674987 609222 16 Feb 2016 Disease Dandy-Walker malformation-postaxial polydactyly syndrome MONDO C1857351 MONDO:0009075 220220 17 Apr 2020 Disease Dandy-Walker syndrome C0010964 220200 16 Feb 2016 Disease Dandy-Walker variant C2931015 31 Mar 2017 Finding Danon disease C0878677 300257 16 Feb 2016 Disease Dappled diaphyseal dysplasia NCBI curation C1300227 16 Feb 2016 Disease Dapsone response CN077973 16 Feb 2016 Pharmacological response Darier disease, acral hemorrhagic type NCBI curation C1852296 16 Feb 2016 Disease Darier disease, segmental NCBI curation C1852297 16 Feb 2016 Disease Darier's sign Human Phenotype Ontology C0878658 HP:0025081 02 Apr 2017 Finding Darifenacin Response CN282546 17 Jun 2020 Pharmacological response Dark choroid Human Phenotype Ontology C4476615 HP:0025148 02 Apr 2017 Finding Dark skin color CN235239 19 Feb 2016 Finding Dark urine Human Phenotype Ontology C0426396 HP:0040319 04 Apr 2018 Finding Dark yellow urine Human Phenotype Ontology C4304293 HP:0040321 04 Apr 2018 Finding Dartoic leiomyoma MONDO C0346066 MONDO:0003301 17 Apr 2020 Disease Darwin notch of helix Human Phenotype Ontology C4021180 HP:0011260 16 Feb 2016 Finding Darwin tubercle of helix Human Phenotype Ontology C4021179 HP:0011261 16 Feb 2016 Finding Darwinian notch NCBI curation 16 Feb 2016 Disease Darwinian tubercle of pinna NCBI curation C1852294 124300 16 Feb 2016 Disease Darwinian tubercle of pinna NCBI curation C1852294 124400 16 Feb 2016 Disease Dasatinib response CN077974 16 Feb 2016 Pharmacological response daunorubicin response - Toxicity/ADR PharmGKB 1448632697PA449212 06 Jul 2018 Pharmacological response Dauwerse-Peters syndrome C2673203 611733 16 Feb 2016 Disease Davenport-Donlan syndrome MONDO C2931076 MONDO:0022932 22 Apr 2020 Disease Davis Lafer syndrome C2931077 16 Feb 2016 Disease DC syndrome NCBI curation CN119548 16 Feb 2016 Disease DCTN1-Related Disorder 11 Oct 2018 Disease DCTN1-Related Disorders 23 May 2019 Disease DD CN238730 19 Oct 2016 Finding DDX3X-Related Disorder 13 Oct 2017 Disease de Barsy syndrome NCBI curation C0268354 31 May 2020 Disease De Hauwere Leroy Adriaenssens syndrome C2931078 16 Feb 2016 Disease de la Chapelle dysplasia NCBI curation C1850555 16 Feb 2016 Disease De Lange syndrome NCBI curation C0270972 16 Feb 2016 Disease De Quervain disease MONDO C0149870 MONDO:0006721 17 Apr 2020 Disease De Quervains' disease 16 Feb 2016 Disease DE SANCTIS-CACCHIONE SYNDROME OMIM C0265201 278800 278800 13 May 2016 Disease Deaf blind hypopigmentation syndrome, Yemenite type MONDO C1866425 MONDO:0011133 601706 22 Apr 2020 Disease Deafness NCBI curation C0011053 07 Sep 2017 Disease Deafness and myopia NCBI curation C3806275 221200 24 Aug 2016 Disease Deafness conductive stapedial ear malformation facial palsy 16 Feb 2016 Disease Deafness dystonia syndrome MONDO C0796074 MONDO:0010578 304700 17 Apr 2020 Disease Deafness enamel hypoplasia nail defects C4551980 234580 16 Feb 2016 Disease Deafness epiphyseal dysplasia short stature 16 Feb 2016 Disease Deafness goiter stippled epiphyses 16 Feb 2016 Disease Deafness hyperuricemia neurologic ataxia C2931079 16 Feb 2016 Disease Deafness hypospadias metacarpal and metatarsal syndrome 16 Feb 2016 Disease Deafness mesenteric diverticula of small bowel neuropathy 16 Feb 2016 Disease Deafness mixed with perilymphatic Gusher, X-linked 16 Feb 2016 Disease Deafness nephritis ano rectal malformation 16 Feb 2016 Disease Deafness onychodystrophy dominant form 16 Feb 2016 Disease Deafness peripheral neuropathy arterial disease 16 Feb 2016 Disease Deafness progressive cataract autosomal dominant 16 Feb 2016 Disease Deafness skeletal dysplasia lip granuloma 16 Feb 2016 Disease Deafness vitiligo achalasia 16 Feb 2016 Disease Deafness white hair contractures papillomas 16 Feb 2016 Disease Deafness with anhidrotic ectodermal dysplasia NCBI curation C1852279 125050 16 Feb 2016 Disease Deafness with hypertrophic cardiomyopathy, autosomal dominant, type 22 NCBI curation CN260131 16 Feb 2016 Disease Deafness with labyrinthine aplasia microtia and microdontia (LAMM) NCBI curation C1853144 610706 16 Feb 2016 Disease Deafness X-linked, DFN3 16 Feb 2016 Disease Deafness, autosomal dominant 1 NCBI curation C1852282 124900 16 Feb 2016 Disease Deafness, autosomal dominant 10 NCBI curation C1832476 601316 16 Feb 2016 Disease Deafness, autosomal dominant 11 NCBI curation C1832475 601317 16 Feb 2016 Disease Deafness, autosomal dominant 12 NCBI curation C1832187 601543 16 Feb 2016 Disease Deafness, autosomal dominant 13 NCBI curation C1866095 601868 16 Feb 2016 Disease Deafness, autosomal dominant 15 NCBI curation C1865366 602459 16 Feb 2016 Disease Deafness, autosomal dominant 16 NCBI curation C1858916 603964 16 Feb 2016 Disease Deafness, autosomal dominant 18 NCBI curation C1853760 606012 16 Feb 2016 Disease Deafness, autosomal dominant 20 NCBI curation C1858172 604717 16 Feb 2016 Disease Deafness, autosomal dominant 21 NCBI curation C1846922 607017 16 Feb 2016 Disease Deafness, autosomal dominant 22 NCBI curation C1853441 606346 16 Feb 2016 Disease Deafness, autosomal dominant 23 NCBI curation C1854594 605192 16 Feb 2016 Disease Deafness, autosomal dominant 24 NCBI curation C1853451 606282 16 Feb 2016 Disease Deafness, autosomal dominant 25 NCBI curation C1854158 605583 16 Feb 2016 Disease Deafness, autosomal dominant 27 NCBI curation C3887929 612431 16 Feb 2016 Disease Deafness, autosomal dominant 28 NCBI curation C1837640 608641 16 Feb 2016 Disease Deafness, autosomal dominant 2b NCBI curation C2675236 612644 16 Feb 2016 Disease Deafness, autosomal dominant 30 NCBI curation C1847972 606451 16 Feb 2016 Disease Deafness, autosomal dominant 31 NCBI curation C1837617 608645 16 Feb 2016 Disease Deafness, autosomal dominant 33 NCBI curation C3887930 614211 16 Feb 2016 Disease DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION OMIM C4521680 617772 617772 30 Nov 2017 Disease Deafness, autosomal dominant 36 NCBI curation C1847626 606705 16 Feb 2016 Disease DEAFNESS, AUTOSOMAL DOMINANT 37 OMIM C4760307 618533 618533 14 Aug 2019 Disease Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 NCBI curation C1854146 605594 16 Feb 2016 Disease Deafness, autosomal dominant 3a NCBI curation C2675750 601544 16 Feb 2016 Disease Deafness, autosomal dominant 3b NCBI curation C2675237 612643 16 Feb 2016 Disease Deafness, autosomal dominant 4 NCBI curation C1833503 600652 16 Feb 2016 Disease Deafness, autosomal dominant 40 NCBI curation C4084708 616357 16 Feb 2016 Disease Deafness, autosomal dominant 41 NCBI curation C1842371 608224 16 Feb 2016 Disease Deafness, autosomal dominant 43 NCBI curation C1842108 608394 16 Feb 2016 Disease Deafness, autosomal dominant 44 NCBI curation C1843895 607453 16 Feb 2016 Disease Deafness, autosomal dominant 47 NCBI curation C1837609 608652 16 Feb 2016 Disease Deafness, autosomal dominant 48 NCBI curation C1842939 607841 16 Feb 2016 Disease Deafness, autosomal dominant 49 NCBI curation C1842136 608372 16 Feb 2016 Disease Deafness, autosomal dominant 4b NCBI curation C3281297 614614 16 Feb 2016 Disease Deafness, autosomal dominant 5 NCBI curation C1832932 600994 16 Feb 2016 Disease Deafness, autosomal dominant 50 NCBI curation C3888123 613074 16 Feb 2016 Disease Deafness, autosomal dominant 51 NCBI curation C3160736 613558 16 Feb 2016 Disease Deafness, autosomal dominant 52 NCBI curation C1843232 607683 16 Feb 2016 Disease Deafness, autosomal dominant 54 NCBI curation C3888029 615649 16 Feb 2016 Disease Deafness, autosomal dominant 56 NCBI curation C3810170 615629 16 Feb 2016 Disease Deafness, autosomal dominant 58 NCBI curation C3888210 615654 16 Feb 2016 Disease Deafness, autosomal dominant 59 NCBI curation C2675238 612642 16 Feb 2016 Disease Deafness, autosomal dominant 6/14/38 CN260046 19 Jun 2019 Disease Deafness, autosomal dominant 64 NCBI curation C3279948 614152 16 Feb 2016 Disease Deafness, autosomal dominant 65 NCBI curation C3892048 616044 16 Feb 2016 Disease Deafness, autosomal dominant 66 NCBI curation C4283893 616969 05 Jul 2016 Disease Deafness, autosomal dominant 67 NCBI curation C4084712 616340 16 Feb 2016 Disease Deafness, autosomal dominant 68 NCBI curation C4225240 616707 16 Feb 2016 Disease Deafness, autosomal dominant 69 NCBI curation C4225241 616697 24 Aug 2016 Disease Deafness, autosomal dominant 69, unilateral or asymmetric CN260047 19 Jun 2019 Disease Deafness, autosomal dominant 7 NCBI curation C1832379 601412 16 Feb 2016 Disease Deafness, autosomal dominant 70 NCBI curation C4310775 616968 24 Nov 2018 Disease DEAFNESS, AUTOSOMAL DOMINANT 71 OMIM C4539881 617605 617605 09 Aug 2017 Disease DEAFNESS, AUTOSOMAL DOMINANT 72 OMIM C4539886 617606 617606 09 Aug 2017 Disease DEAFNESS, AUTOSOMAL DOMINANT 73 OMIM C4540024 617663 617663 14 Sep 2017 Disease DEAFNESS, AUTOSOMAL DOMINANT 74 OMIM C4748334 618140 618140 04 Oct 2018 Disease DEAFNESS, AUTOSOMAL DOMINANT 75 OMIM CN263282 618778 618778 20 Feb 2020 Disease DEAFNESS, AUTOSOMAL DOMINANT 76 OMIM CN263293 618787 618787 23 Feb 2020 Disease DEAFNESS, AUTOSOMAL DOMINANT 77 OMIM CN282602 618915 618915 21 Jun 2020 Disease Deafness, autosomal dominant 9 NCBI curation C1832425 601369 16 Feb 2016 Disease Deafness, autosomal dominant nonsyndromic sensorineural 23 C2931768 16 Feb 2016 Disease Deafness, autosomal dominant nonsyndromic sensorineural 24 C2931769 16 Feb 2016 Disease Deafness, autosomal dominant nonsyndromic sensorineural 3 16 Feb 2016 Disease Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1 NCBI curation C4016014 16 Oct 2016 Disease Deafness, autosomal dominant, with peripheral neuropathy NCBI curation C3148751 16 Feb 2016 Disease Deafness, autosomal recessive NCBI curation C1846647 607197 16 Feb 2016 Disease DEAFNESS, AUTOSOMAL RECESSIVE 100 OMIM C5193087 618422 618422 10 May 2019 Disease Deafness, autosomal recessive 101 NCBI curation C3892049 615837 16 Feb 2016 Disease Deafness, autosomal recessive 102 NCBI curation C3892050 615974 16 Feb 2016 Disease Deafness, autosomal recessive 103 NCBI curation C4015050 616042 16 Feb 2016 Disease Deafness, autosomal recessive 104 NCBI curation C4225298 616515 16 Feb 2016 Disease DEAFNESS, AUTOSOMAL RECESSIVE 106 OMIM C4539954 617637 617637 24 Aug 2017 Disease DEAFNESS, AUTOSOMAL RECESSIVE 107 OMIM C4539964 617639 617639 26 Aug 2017 Disease DEAFNESS, AUTOSOMAL RECESSIVE 108 OMIM C4539997 617654 617654 01 Sep 2017 Disease DEAFNESS, AUTOSOMAL RECESSIVE 109 OMIM C4693935 618013 618013 14 Jun 2018 Disease DEAFNESS, AUTOSOMAL RECESSIVE 110 OMIM C4748162 618094 618094 30 Aug 2018 Disease DEAFNESS, AUTOSOMAL RECESSIVE 111 OMIM C4748374 618145 618145 16 Oct 2018 Disease DEAFNESS, AUTOSOMAL RECESSIVE 112 OMIM C4748855 618257 618257 16 Dec 2018 Disease DEAFNESS, AUTOSOMAL RECESSIVE 113 OMIM C5193079 618410 618410 02 May 2019 Disease DEAFNESS, AUTOSOMAL RECESSIVE 114 OMIM C5193107 618456 618456 05 Jun 2019 Disease DEAFNESS, AUTOSOMAL RECESSIVE 115 OMIM C5193108 618457 618457 05 Jun 2019 Disease Deafness, autosomal recessive 12 NCBI curation C1832394 601386 16 Feb 2016 Disease Deafness, autosomal recessive 12, modifier of NCBI curation C4015888 16 Feb 2016 Disease Deafness, autosomal recessive 13 NCBI curation C1864199 603098 16 Feb 2016 Disease Deafness, autosomal recessive 14 NCBI curation C1863613 603678 16 Feb 2016 Disease Deafness, autosomal recessive 15 NCBI curation C1866094 601869 16 Feb 2016 Disease Deafness, autosomal recessive 16 NCBI curation C1863561 603720 16 Feb 2016 Disease Deafness, autosomal recessive 17 NCBI curation C1864276 603010 16 Feb 2016 Disease Deafness, autosomal recessive 18 NCBI curation C1865870 602092 16 Feb 2016 Disease Deafness, autosomal recessive 18b NCBI curation C3554163 614945 16 Feb 2016 Disease Deafness, autosomal recessive 1A NCBI curation C2673759 220290 16 Feb 2016 Disease Deafness, autosomal recessive 1b NCBI curation C2675235 612645 16 Feb 2016 Disease Deafness, autosomal recessive 2 NCBI curation C1838701 600060 16 Feb 2016 Disease Deafness, autosomal recessive 20 NCBI curation C1858840 604060 16 Feb 2016 Disease Deafness, autosomal recessive 21 NCBI curation C1863655 603629 16 Feb 2016 Disease Deafness, autosomal recessive 22 NCBI curation C1846896 607039 16 Feb 2016 Disease Deafness, autosomal recessive 23 NCBI curation C1836027 609533 16 Feb 2016 Disease Deafness, autosomal recessive 24 NCBI curation C1970239 611022 16 Feb 2016 Disease Deafness, autosomal recessive 25 NCBI curation C1414017 613285 16 Feb 2016 Disease Deafness, autosomal recessive 26 NCBI curation C1854275 605428 16 Feb 2016 Disease Deafness, autosomal recessive 26, modifier of NCBI curation C1854274 605429 21 Sep 2018 Disease Deafness, autosomal recessive 27 NCBI curation C1853941 605818 16 Feb 2016 Disease Deafness, autosomal recessive 28 NCBI curation C1853276 609823 16 Feb 2016 Disease Deafness, autosomal recessive 29 NCBI curation C3279660 614035 16 Feb 2016 Disease Deafness, autosomal recessive 3 NCBI curation C1838263 600316 16 Feb 2016 Disease Deafness, autosomal recessive 30 NCBI curation C1846784 607101 16 Feb 2016 Disease Deafness, autosomal recessive 31 NCBI curation C1846839 607084 16 Feb 2016 Disease Deafness, autosomal recessive 32 NCBI curation C1837608 608653 16 Feb 2016 Disease Deafness, autosomal recessive 33 NCBI curation C1846576 607239 16 Feb 2016 Disease Deafness, autosomal recessive 35 NCBI curation C1837857 608565 16 Feb 2016 Disease Deafness, autosomal recessive 36 C3496242 20 Jun 2019 Disease Deafness, autosomal recessive 36, with or without vestibular involvement NCBI curation C1837007 609006 16 Feb 2016 Disease Deafness, autosomal recessive 36, without vestibular involvement NCBI curation C3502293 16 Feb 2016 Disease Deafness, autosomal recessive 37 NCBI curation C1843028 607821 16 Feb 2016 Disease Deafness, autosomal recessive 38 NCBI curation C1842381 608219 16 Feb 2016 Disease Deafness, autosomal recessive 39 NCBI curation C1842342 608265 16 Feb 2016 Disease Deafness, autosomal recessive 40 NCBI curation C1842345 608264 16 Feb 2016 Disease Deafness, autosomal recessive 42 NCBI curation C1864818 609646 16 Feb 2016 Disease Deafness, autosomal recessive 44 NCBI curation C1857809 610154 16 Feb 2016 Disease Deafness, autosomal recessive 45 NCBI curation C3888030 612433 16 Feb 2016 Disease Deafness, autosomal recessive 46 NCBI curation C1864815 609647 16 Feb 2016 Disease Deafness, autosomal recessive 48 NCBI curation C1836199 609439 16 Feb 2016 Disease Deafness, autosomal recessive 49 NCBI curation C1857811 610153 16 Feb 2016 Disease Deafness, autosomal recessive 5 NCBI curation C1833319 600792 16 Feb 2016 Disease Deafness, autosomal recessive 53 NCBI curation C1864746 609706 16 Feb 2016 Disease DEAFNESS, AUTOSOMAL RECESSIVE 57 OMIM C4693893 618003 618003 03 Jun 2018 Disease Deafness, autosomal recessive 59 NCBI curation C1857744 610220 16 Feb 2016 Disease Deafness, autosomal recessive 6 NCBI curation C1832992 600971 16 Feb 2016 Disease Deafness, autosomal recessive 61 NCBI curation C3151230 613865 16 Feb 2016 Disease Deafness, autosomal recessive 62 NCBI curation C1857820 610143 16 Feb 2016 Disease Deafness, autosomal recessive 63 NCBI curation C1969621 611451 16 Feb 2016 Disease Deafness, autosomal recessive 65 NCBI curation C1853248 610248 16 Feb 2016 Disease Deafness, autosomal recessive 66 NCBI curation C1857750 610212 16 Feb 2016 Disease Deafness, autosomal recessive 67 NCBI curation C1853223 610265 16 Feb 2016 Disease Deafness, autosomal recessive 68 NCBI curation C1835854 610419 16 Feb 2016 Disease Deafness, autosomal recessive 7 NCBI curation C1832978 600974 16 Feb 2016 Disease Deafness, autosomal recessive 70 NCBI curation C1824925 614934 16 Feb 2016 Disease Deafness, autosomal recessive 71 NCBI curation C2748554 612789 16 Feb 2016 Disease Deafness, autosomal recessive 74 NCBI curation C2239351 613718 16 Feb 2016 Disease Deafness, autosomal recessive 76 NCBI curation C3147083 615540 16 Feb 2016 Disease Deafness, autosomal recessive 77 NCBI curation C2746083 613079 16 Feb 2016 Disease Deafness, autosomal recessive 79 NCBI curation C2750082 613307 16 Feb 2016 Disease Deafness, autosomal recessive 8 NCBI curation C1832827 601072 16 Feb 2016 Disease Deafness, autosomal recessive 83 NCBI curation C3888310 613685 16 Feb 2016 Disease Deafness, autosomal recessive 84 NCBI curation C3150654 613391 16 Feb 2016 Disease Deafness, autosomal recessive 84b NCBI curation C3554159 614944 16 Feb 2016 Disease Deafness, autosomal recessive 85 NCBI curation C3160740 613392 16 Feb 2016 Disease Deafness, autosomal recessive 86 NCBI curation C2829265 614617 16 Feb 2016 Disease Deafness, autosomal recessive 88 NCBI curation C2829267 615429 16 Feb 2016 Disease Deafness, autosomal recessive 89 NCBI curation C3151351 613916 16 Feb 2016 Disease Deafness, autosomal recessive 9 NCBI curation C1832828 601071 16 Feb 2016 Disease Deafness, autosomal recessive 91 NCBI curation C3150704 613453 16 Feb 2016 Disease Deafness, autosomal recessive 93 NCBI curation C3888355 614899 16 Feb 2016 Disease DEAFNESS, AUTOSOMAL RECESSIVE 94 OMIM C5193096 618434 618434 26 May 2019 Disease Deafness, autosomal recessive 96 NCBI curation C3888337 614414 16 Feb 2016 Disease Deafness, autosomal recessive 97 NCBI curation C4084709 616705 16 Feb 2016 Disease Deafness, autosomal recessive 98 NCBI curation C3553932 614861 16 Feb 2016 Disease DEAFNESS, AUTOSOMAL RECESSIVE 99 OMIM C4760579 618481 618481 26 Jun 2019 Disease Deafness, cataract, retinitis pigmentosa, and sperm abnormalities NCBI curation C2678011 300719 16 Feb 2016 Disease Deafness, conductive stapedial, with ear malformation and facial palsy NCBI curation C1852292 124490 16 Feb 2016 Disease Deafness, conductive, with malformed external ear NCBI curation C1857341 221300 16 Feb 2016 Disease Deafness, congenital heart defects, and posterior embryotoxon NCBI curation C1866053 617992 16 Feb 2016 Disease Deafness, congenital, and familial myoclonic epilepsy NCBI curation C1857348 220300 16 Feb 2016 Disease Deafness, congenital, with onychodystrophy, autosomal dominant NCBI curation C2675730 124480 24 Aug 2016 Disease Deafness, congenital, with total albinism NCBI curation C1857343 220900 16 Feb 2016 Disease Deafness, congenital, with vitiligo and achalasia NCBI curation C1857339 221350 16 Feb 2016 Disease Deafness, digenic recessive 18 May 2018 Finding Deafness, digenic, GJB2/GJB3 NCBI curation C2673761 16 Feb 2016 Disease Deafness, digenic, GJB2/GJB6 NCBI curation C2673760 16 Feb 2016 Disease Deafness, isolated, due to mitochondrial transmission 16 Feb 2016 Disease Deafness, mid-tone neural NCBI curation C1852283 124700 16 Feb 2016 Disease Deafness, mitochondrial, modifier of NCBI curation C4017209 16 Feb 2016 Disease Deafness, neural, congenital moderate NCBI curation C1857337 221500 16 Feb 2016 Disease Deafness, neural, with atypical atopic dermatitis NCBI curation C1857334 221700 16 Feb 2016 Disease Deafness, neurosensory autosomal recessive 21 NCBI curation C4016799 16 Feb 2016 Disease Deafness, neurosensory nonsyndromic recessive, DFN 16 Feb 2016 Disease Deafness, neurosensory, autosomal recessive 49 NCBI curation C4017220 16 Feb 2016 Disease Deafness, nonsyndromic sensorineural, mitochondrial NCBI curation C3151897 500008 16 Feb 2016 Disease Deafness, sensorineural, autosomal-mitochondrial type NCBI curation C1857332 221745 16 Feb 2016 Disease Deafness, sensorineural, with neurologic features NCBI curation C3151975 26 May 2016 Disease Deafness, sensorineural, with peripheral neuropathy and arterial disease NCBI curation C1852280 124950 16 Feb 2016 Disease Deafness, unilateral, with delayed endolymphatic hydrops NCBI curation C2677512 612097 16 Feb 2016 Disease Deafness, with smith-magenis syndrome NCBI curation C4016803 16 Feb 2016 Disease Deafness, without vestibular involvement, autosomal dominant NCBI curation CN068820 16 Feb 2016 Disease Deafness, X-linked OMIM phenotypic series CN043651 PS304500 16 Feb 2016 Disease Deafness, X-linked 1 NCBI curation C1844677 304500 24 Aug 2016 Disease Deafness, X-linked 2 C1844678 304400 16 Feb 2016 Disease Deafness, X-linked 3 NCBI curation C3888089 300030 16 Feb 2016 Disease Deafness, X-linked 4 NCBI curation C1848204 300066 16 Feb 2016 Disease Deafness, X-linked 5 NCBI curation C1845095 300614 16 Feb 2016 Disease Deafness, X-linked 6 NCBI curation C3806737 300914 16 Feb 2016 Disease Deafness, Y-linked OMIM phenotypic series CN262180 PS400043 11 Aug 2019 Disease Deafness, Y-linked 1 NCBI curation C3888076 400043 16 Feb 2016 Disease Deafness, Y-linked 2 NCBI curation C5193013 400047 11 Aug 2019 Disease Deafness-craniofacial syndrome NCBI curation C1852278 125230 16 Feb 2016 Disease Deafness-epiphyseal dysplasia-short stature syndrome MONDO C1832438 MONDO:0011047 601351 17 Apr 2020 Disease Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome MONDO C2931654 MONDO:0017920 17 Apr 2020 Disease Deafness-hypogonadism syndrome NCBI curation C1844680 304350 16 Feb 2016 Disease Deafness-infertility syndrome NCBI curation C1970187 611102 27 May 2016 Disease Deafness-oligodontia syndrome MONDO C1857333 MONDO:0009089 221740 22 Apr 2020 Disease Deafness-onychodystrophy syndrome MONDO CN204041 MONDO:0017922 17 Apr 2020 Disease Deafness-small bowel diverticulosis-neuropathy syndrome MONDO C1857338 MONDO:0009086 221400 17 Apr 2020 Disease Deal Barratt Dillon syndrome C2931773 16 Feb 2016 Disease Death in adolescence Human Phenotype Ontology C4023368 HP:0011421 16 Feb 2016 Finding Death in childhood Human Phenotype Ontology C1843392 HP:0003819 16 Feb 2016 Finding Death in early adulthood Human Phenotype Ontology C4022012 HP:0100613 16 Feb 2016 Finding Death in infancy Human Phenotype Ontology C1858430 HP:0001522 16 Feb 2016 Finding Debrisoquine, poor metabolism of NCBI curation C1837156 16 Feb 2016 Pharmacological response Debrisoquine, ultrarapid metabolism of NCBI curation C1837157 16 Feb 2016 Pharmacological response deceased CN220451 16 Feb 2016 Finding Decerebrate rigidity Human Phenotype Ontology C0011103 HP:0025013 02 Apr 2017 Finding decompensation during febrile episode CN238764 19 Oct 2016 Finding Decompression sickness MONDO C0011119 MONDO:0020797 17 Apr 2020 Disease Decorticate rigidity Human Phenotype Ontology C0231521 HP:0011444 16 Feb 2016 Finding Decrease in high molecular weight von Willebrand factor Multimers Human Phenotype Ontology C4280718 HP:0040225 02 Apr 2017 Finding Decrease in T cell count Human Phenotype Ontology C2931322 HP:0005403 02 Apr 2017 Finding Decreased Achilles reflex Human Phenotype Ontology C1837323 HP:0009072 16 Feb 2016 Finding Decreased acrosin in sperm head Human Phenotype Ontology C4476995 HP:0031136 04 Apr 2018 Finding Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Human Phenotype Ontology C4477062 HP:0100950 04 Apr 2018 Finding Decreased activity of mitochondrial ATP synthase complex Human Phenotype Ontology C4023125 HP:0011925 16 Feb 2016 Finding Decreased activity of mitochondrial complex I Human Phenotype Ontology C2677650 HP:0011923 16 Feb 2016 Finding Decreased activity of mitochondrial complex II Human Phenotype Ontology C4024705 HP:0008314 16 Feb 2016 Finding Decreased activity of mitochondrial complex III Human Phenotype Ontology C3149083 HP:0011924 16 Feb 2016 Finding Decreased activity of mitochondrial complex IV Human Phenotype Ontology C4020800 HP:0008347 16 Feb 2016 Finding Decreased activity of mitochondrial respiratory chain Human Phenotype Ontology C4024609 HP:0008972 16 Feb 2016 Finding Decreased activity of NADPH oxidase Human Phenotype Ontology C1844394 HP:0003206 16 Feb 2016 Finding Decreased activity of the pyruvate dehydrogenase complex Human Phenotype Ontology C1839888 HP:0002928 02 Apr 2017 Finding Decreased adenosylcobalamin Human Phenotype Ontology C1848556 HP:0003145 16 Feb 2016 Finding Decreased adiponectin level Human Phenotype Ontology C4073127 HP:0030685 02 Apr 2017 Finding Decreased adipose tissue Human Phenotype Ontology C4022459 HP:0040063 16 Feb 2016 Finding Decreased adipose tissue around neck Human Phenotype Ontology C1837763 HP:0005995 16 Feb 2016 Finding Decreased amplitude of sensory action potentials Human Phenotype Ontology C4024943 HP:0007078 16 Feb 2016 Finding Decreased anterioposterior diameter of lumbar vertebral bodies Human Phenotype Ontology C4025168 HP:0005638 16 Feb 2016 Finding Decreased antibody level in blood Human Phenotype Ontology C4048270 HP:0004313 16 Feb 2016 Finding Decreased antimullerian hormone level Human Phenotype Ontology C4476972 HP:0031103 04 Apr 2018 Finding Decreased Arden ratio of electrooculogram Human Phenotype Ontology C4024720 HP:0008179 16 Feb 2016 Finding Decreased attenuation pattern on pulmonary HRCT Human Phenotype Ontology C4476754 HP:0025396 04 Apr 2018 Finding Decreased beta-galactosidase activity Human Phenotype Ontology C1856559 HP:0008166 16 Feb 2016 Finding Decreased beta-glucocerebrosidase protein and activity Human Phenotype Ontology C5139035 HP:0003656 16 Feb 2016 Finding decreased beta-glucosidase level CN240357 27 Jan 2017 Finding decreased blood alpha-hydroxyisovalerate levels CN227916 16 Feb 2016 Disease Decreased body mass index Human Phenotype Ontology C0231255 HP:0045082 02 Apr 2017 Finding Decreased body weight Human Phenotype Ontology C1844806 HP:0004325 16 Feb 2016 Finding Decreased calvarial ossification Human Phenotype Ontology C1833762 HP:0005474 16 Feb 2016 Finding Decreased carnitine level in liver Human Phenotype Ontology C4073182 HP:0045061 02 Apr 2017 Finding Decreased carpal angles of wrist Human Phenotype Ontology C4025416 HP:0004049 16 Feb 2016 Finding Decreased CD25 upregulation upon TCR activation Human Phenotype Ontology C4531234 HP:0031270 04 Apr 2018 Finding Decreased CD69 upregulation upon TCR activation Human Phenotype Ontology C4531236 HP:0031268 04 Apr 2018 Finding Decreased cervical spine flexion due to contractures of posterior cervical muscles Human Phenotype Ontology C1839653 HP:0004631 16 Feb 2016 Finding Decreased cervical spine mobility Human Phenotype Ontology C1859692 HP:0004637 16 Feb 2016 Finding Decreased circulating ACTH level Human Phenotype Ontology C4025669 HP:0002920 16 Feb 2016 Finding Decreased circulating aldosterone level Human Phenotype Ontology C0857899 HP:0004319 02 Apr 2017 Finding Decreased circulating androgen level Human Phenotype Ontology C4072894 HP:0030349 16 Feb 2016 Finding Decreased circulating beta-2-microglobulin level Human Phenotype Ontology C4476717 HP:0025347 02 Apr 2017 Finding Decreased circulating beta-C-terminal telopeptide level Human Phenotype Ontology C4531128 HP:0031426 04 Apr 2018 Finding Decreased circulating chylomicron levels Human Phenotype Ontology C4531250 HP:0031242 04 Apr 2018 Finding Decreased circulating cortisol level Human Phenotype Ontology C1836623 HP:0008163 16 Feb 2016 Finding Decreased circulating dehydroepiandrosterone level Human Phenotype Ontology C4531272 HP:0031214 04 Apr 2018 Finding Decreased circulating dehydroepiandrosterone-sulfate level Human Phenotype Ontology C4531271 HP:0031215 04 Apr 2018 Finding Decreased circulating follicle stimulating hormone level Human Phenotype Ontology C4072889 HP:0030341 16 Feb 2016 Finding Decreased circulating free fatty acid level Human Phenotype Ontology C4477037 HP:0040299 04 Apr 2018 Finding Decreased circulating gonadotropin level Human Phenotype Ontology C4072887 HP:0030339 16 Feb 2016 Finding Decreased circulating high-density lipoprotein levels Human Phenotype Ontology C0151691 HP:0003233 04 Apr 2018 Finding Decreased circulating low-density lipoprotein levels Human Phenotype Ontology C0853085 HP:0003563 04 Apr 2018 Finding Decreased circulating luteinizing hormone level Human Phenotype Ontology C4072890 HP:0030344 16 Feb 2016 Finding Decreased circulating osteocalcin level Human Phenotype Ontology C4531125 HP:0031429 04 Apr 2018 Finding Decreased circulating progesterone Human Phenotype Ontology C1858995 HP:0008233 04 Apr 2018 Finding Decreased circulating renin level Human Phenotype Ontology C1845206 HP:0003351 16 Feb 2016 Finding Decreased circulating thyroxine level Human Phenotype Ontology C4531078 HP:0031507 04 Apr 2018 Finding Decreased circulating very-low-density lipoprotein levels Human Phenotype Ontology C4531249 HP:0031243 04 Apr 2018 Finding Decreased class-switched memory B cell count Human Phenotype Ontology C4072925 HP:0030388 16 Feb 2016 Finding Decreased corneal reflex Human Phenotype Ontology C0151572 HP:0008000 16 Feb 2016 Finding Decreased corneal sensation Human Phenotype Ontology C0271292 HP:0012155 16 Feb 2016 Finding Decreased corneal thickness Human Phenotype Ontology C1096274 HP:0100689 16 Feb 2016 Finding Decreased cranial base ossification Human Phenotype Ontology C1835442 HP:0005451 16 Feb 2016 Finding Decreased CSF 5-hydroxyindolacetic acid Human Phenotype Ontology C4476788 HP:0025455 04 Apr 2018 Finding Decreased CSF albumin Human Phenotype Ontology C1168004 HP:0025458 04 Apr 2018 Finding Decreased CSF amyloid level Human Phenotype Ontology C4280739 HP:0030861 02 Apr 2017 Finding Decreased CSF biopterin level Human Phenotype Ontology C4073157 HP:0040209 02 Apr 2017 Finding Decreased CSF homovanillic acid Human Phenotype Ontology C4280803 HP:0003785 02 Apr 2017 Finding Decreased CSF neopterin level Human Phenotype Ontology C4073153 HP:0040205 02 Apr 2017 Finding Decreased CSF total protein Human Phenotype Ontology C4476790 HP:0025457 04 Apr 2018 Finding Decreased CSF/serum albumin ratio Human Phenotype Ontology C4476891 HP:0030978 04 Apr 2018 Finding Decreased distal sensory nerve action potential Human Phenotype Ontology C4024920 HP:0007230 16 Feb 2016 Finding Decreased DLCO Human Phenotype Ontology C4073175 HP:0045051 16 Feb 2016 Finding Decreased erythrocyte sedimentation rate Human Phenotype Ontology C0151631 HP:0025022 02 Apr 2017 Finding Decreased face expression 23 Jan 2020 Finding Decreased facial expression Human Phenotype Ontology C1862474 HP:0004673 16 Feb 2016 Finding Decreased female libido Human Phenotype Ontology C4022676 HP:0030018 16 Feb 2016 Finding Decreased femoral torsion Human Phenotype Ontology C4476949 HP:0031070 04 Apr 2018 Finding Decreased fertility Human Phenotype Ontology C0729353 HP:0000144 16 Feb 2016 Finding Decreased fertility in females Human Phenotype Ontology C0151639 HP:0000868 16 Feb 2016 Finding Decreased fertility in males Human Phenotype Ontology C0151640 HP:0012041 16 Feb 2016 Finding Decreased fetal movement Human Phenotype Ontology C0235659 HP:0001558 16 Feb 2016 Finding Decreased fibular diameter Human Phenotype Ontology C4476976 HP:0031107 04 Apr 2018 Finding Decreased finger mobility Human Phenotype Ontology C1862133 HP:0006135 16 Feb 2016 Finding Decreased fucosylation of N-linked protein glycosylation Human Phenotype Ontology C4022938 HP:0012353 16 Feb 2016 Finding Decreased fucosylation of O-linked protein glycosylation Human Phenotype Ontology C4022931 HP:0012360 16 Feb 2016 Finding Decreased fumarate hydratase activity Human Phenotype Ontology C1853903 HP:0003536 16 Feb 2016 Finding Decreased galactosylation of N-linked protein glycosylation Human Phenotype Ontology C4022943 HP:0012348 16 Feb 2016 Finding Decreased glomerular filtration rate Human Phenotype Ontology C0853068 HP:0012213 16 Feb 2016 Finding Decreased glucagon level Human Phenotype Ontology C1295678 HP:0030689 02 Apr 2017 Finding Decreased glucose tolerance Human Phenotype Ontology C0151671 HP:0040270 02 Apr 2017 Finding Decreased glucosephosphate isomerase activity Human Phenotype Ontology C1291611 HP:0003568 16 Feb 2016 Finding Decreased growth velocity over time CN235298 20 Feb 2016 Finding Decreased head circumference Human Phenotype Ontology C0424688 HP:0040195 16 Feb 2016 Finding decreased hemispheric white matter 22 Aug 2019 Finding Decreased hepatic echogenicity Human Phenotype Ontology C4477002 HP:0031143 04 Apr 2018 Finding decreased HIBCH enzymatic activity CN230262 16 Feb 2016 Finding Decreased hip abduction Human Phenotype Ontology C1836589 HP:0003184 16 Feb 2016 Finding Decreased immature B cell count Human Phenotype Ontology C4072917 HP:0030378 16 Feb 2016 Finding Decreased incisura length Human Phenotype Ontology C4531261 HP:0031230 04 Apr 2018 Finding Decreased inflammatory response Human Phenotype Ontology C4022804 HP:0012648 16 Feb 2016 Finding Decreased inhibin B level Human Phenotype Ontology C4476969 HP:0031100 04 Apr 2018 Finding Decreased intestinal transit time Human Phenotype Ontology C3805050 HP:0030897 02 Apr 2017 Finding Decreased intracranial pressure Human Phenotype Ontology C0456892 HP:0012641 16 Feb 2016 Finding Decreased lacrimation Human Phenotype Ontology C0235857 HP:0000633 16 Feb 2016 Finding Decreased lecithin cholesterol acyl transferase activity Human Phenotype Ontology C4476773 HP:0025433 04 Apr 2018 Finding Decreased level of heparin co-factor II Human Phenotype Ontology C4280717 HP:0040226 02 Apr 2017 Finding Decreased level of histidine-rich glycoprotein Human Phenotype Ontology C4280716 HP:0040227 02 Apr 2017 Finding Decreased level of plasminogen Human Phenotype Ontology C4280715 HP:0040228 02 Apr 2017 Finding Decreased level of platelet-activating factor Human Phenotype Ontology C4073144 HP:0040179 16 Feb 2016 Finding Decreased level of thrombomodulin Human Phenotype Ontology C4255334 HP:0040229 02 Apr 2017 Finding Decreased level of tissue plasminogen activator Human Phenotype Ontology C4280714 HP:0040230 02 Apr 2017 Finding Decreased levels of alpha-fetoprotein Human Phenotype Ontology C4073295 HP:0045057 16 Feb 2016 Finding Decreased light- and dark-adapted electroretinogram amplitude Human Phenotype Ontology C1839025 HP:0000654 16 Feb 2016 Finding Decreased lipoprotein lipase activity Human Phenotype Ontology C4531277 HP:0031209 04 Apr 2018 Finding Decreased liver function Human Phenotype Ontology C0232744 HP:0001410 16 Feb 2016 Finding Decreased lymphocyte apoptosis Human Phenotype Ontology C1858969 HP:0002731 02 Apr 2017 Finding Decreased lymphocyte proliferation in response to anti-CD3 Human Phenotype Ontology C4531165 HP:0031382 04 Apr 2018 Finding Decreased lymphocyte proliferation in response to mitogen Human Phenotype Ontology C4531166 HP:0031381 04 Apr 2018 Finding Decreased male libido Human Phenotype Ontology C4477042 HP:0040306 04 Apr 2018 Finding Decreased mannosylation of N-linked protein glycosylation Human Phenotype Ontology C4022935 HP:0012356 16 Feb 2016 Finding Decreased marginal zone B cell count Human Phenotype Ontology C4072922 HP:0030384 16 Feb 2016 Finding Decreased mean corpuscular hemoglobin Human Phenotype Ontology C0427437 HP:0025547 04 Apr 2018 Finding Decreased mean corpuscular volume Human Phenotype Ontology C0855790 HP:0025066 02 Apr 2017 Finding Decreased mean platelet volume Human Phenotype Ontology C1096368 HP:0005537 16 Feb 2016 Finding Decreased memory B cell count Human Phenotype Ontology C4072913 HP:0030374 16 Feb 2016 Finding Decreased methionine synthase activity Human Phenotype Ontology C1848580 HP:0003524 16 Feb 2016 Finding Decreased methylcobalamin Human Phenotype Ontology C4021736 HP:0003223 16 Feb 2016 Finding Decreased methylmalonyl-CoA mutase activity Human Phenotype Ontology C1848579 HP:0003210 16 Feb 2016 Finding Decreased miniature endplate potentials Human Phenotype Ontology C1853952 HP:0003402 16 Feb 2016 Finding Decreased mitochondrial complex III activity in liver tissue Human Phenotype Ontology C4025022 HP:0006558 16 Feb 2016 Finding Decreased mitochondrial number Human Phenotype Ontology C4022493 HP:0040013 16 Feb 2016 Finding Decreased mobility 3rd-5th fingers Human Phenotype Ontology C1833882 HP:0006169 16 Feb 2016 Finding Decreased motor nerve conduction velocity Human Phenotype Ontology C1858729 HP:0003431 16 Feb 2016 Finding Decreased movement range in interphalangeal joints Human Phenotype Ontology C1836772 HP:0006203 16 Feb 2016 Finding decreased movements of hands and legs 13 Feb 2020 Finding Decreased muscle glycogen content Human Phenotype Ontology C4022979 HP:0012270 16 Feb 2016 Finding Decreased muscle mass Human Phenotype Ontology C1837108 HP:0003199 16 Feb 2016 Finding Decreased naive B cell count Human Phenotype Ontology C4072911 HP:0030372 16 Feb 2016 Finding Decreased nerve conduction velocity Human Phenotype Ontology C1857640 HP:0000762 16 Feb 2016 Finding Decreased number of CD3+ T cells Human Phenotype Ontology C4477053 HP:0045080 02 Apr 2017 Finding Decreased number of CD4+ T cells Human Phenotype Ontology C1839304 HP:0005407 16 Feb 2016 Finding Decreased number of CD8+ T cells Human Phenotype Ontology C1839305 HP:0005415 16 Feb 2016 Finding Decreased number of large peripheral myelinated nerve fibers Human Phenotype Ontology C1859606 HP:0003387 16 Feb 2016 Finding Decreased number of peripheral myelinated nerve fibers Human Phenotype Ontology C1858285 HP:0003380 16 Feb 2016 Finding Decreased number of small peripheral myelinated nerve fibers Human Phenotype Ontology C4024916 HP:0007249 16 Feb 2016 Finding Decreased number of sternal ossification centers Human Phenotype Ontology C1856223 HP:0006611 16 Feb 2016 Finding Decreased number of sweat glands Human Phenotype Ontology C4021574 HP:0007500 16 Feb 2016 Finding Decreased number of vertebrae Human Phenotype Ontology C4022522 HP:0030305 16 Feb 2016 Finding Decreased numbers of nephrons Human Phenotype Ontology C2673888 HP:0005563 16 Feb 2016 Finding Decreased osteoclast count Human Phenotype Ontology C4022507 HP:0030328 16 Feb 2016 Finding Decreased palmar creases Human Phenotype Ontology C1857483 HP:0006184 16 Feb 2016 Finding Decreased patellar reflex Human Phenotype Ontology C3277184 HP:0011808 16 Feb 2016 Finding Decreased pineal volume Human Phenotype Ontology C4022780 HP:0012685 16 Feb 2016 Finding Decreased plasma carnitine Human Phenotype Ontology C1142132 HP:0003234 16 Feb 2016 Finding Decreased plasma free carnitine Human Phenotype Ontology C4015009 HP:0008315 16 Feb 2016 Finding Decreased plasma total carnitine Human Phenotype Ontology C4023117 HP:0011936 16 Feb 2016 Finding Decreased platelet alpha-2A-adrenergic receptor Human Phenotype Ontology C4476984 HP:0031125 04 Apr 2018 Finding Decreased platelet glycoprotein Ib Human Phenotype Ontology C4477009 HP:0031156 04 Apr 2018 Finding Decreased platelet glycoprotein Ib-IX-V Human Phenotype Ontology C4023150 HP:0011879 16 Feb 2016 Finding Decreased platelet glycoprotein IIb-IIIa Human Phenotype Ontology C4021767 HP:0001975 16 Feb 2016 Finding Decreased platelet glycoprotein VI Human Phenotype Ontology C4023148 HP:0011881 16 Feb 2016 Finding Decreased platelet P2Y12 receptor Human Phenotype Ontology C4023147 HP:0011882 16 Feb 2016 Finding Decreased platelet thromboxane A2 receptor Human Phenotype Ontology C4476983 HP:0031124 04 Apr 2018 Finding Decreased prealbumin level Human Phenotype Ontology C4476964 HP:0031085 04 Apr 2018 Finding Decreased proportion of CD8-positive T cells 12 Jun 2020 Finding Decreased proprioception C0576690 10 May 2016 Finding Decreased pulmonary function Human Phenotype Ontology C0235063 HP:0005952 16 Feb 2016 Finding Decreased purine levels Human Phenotype Ontology C4025331 HP:0004369 16 Feb 2016 Finding Decreased pyruvate carboxylase activity Human Phenotype Ontology C4025641 HP:0003209 16 Feb 2016 Finding Decreased QRS voltage Human Phenotype Ontology C2349945 HP:0025077 02 Apr 2017 Finding Decreased renal parenchymal thickness Human Phenotype Ontology C4476702 HP:0025327 02 Apr 2017 Finding Decreased renal tubular phosphate excretion Human Phenotype Ontology C1968899 HP:0005572 16 Feb 2016 Finding Decreased resting energy expenditure Human Phenotype Ontology C4022947 HP:0012340 16 Feb 2016 Finding Decreased retinol-binding protein level Human Phenotype Ontology C4476920 HP:0031032 04 Apr 2018 Finding Decreased scrotal rugation Human Phenotype Ontology C4022705 HP:0012858 16 Feb 2016 Finding Decreased sensitivity to hypoxemia Human Phenotype Ontology C3806286 HP:0005947 16 Feb 2016 Finding Decreased sensory nerve conduction velocity Human Phenotype Ontology C1849148 HP:0003448 16 Feb 2016 Finding Decreased serum bile concentration Human Phenotype Ontology C4476895 HP:0030985 04 Apr 2018 Finding Decreased serum ceruloplasmin Human Phenotype Ontology C0240997 HP:0010837 16 Feb 2016 Finding Decreased serum complement C3 Human Phenotype Ontology C1837512 HP:0005421 16 Feb 2016 Finding Decreased serum complement C4 Human Phenotype Ontology C4073169 HP:0045042 16 Feb 2016 Finding Decreased serum complement C4a Human Phenotype Ontology C4073170 HP:0045043 16 Feb 2016 Finding Decreased serum complement C9 Human Phenotype Ontology C4021093 HP:0012308 16 Feb 2016 Finding Decreased serum complement factor B Human Phenotype Ontology C4021636 HP:0005416 16 Feb 2016 Finding Decreased serum complement factor H Human Phenotype Ontology C1969222 HP:0005369 16 Feb 2016 Finding Decreased serum complement factor I Human Phenotype Ontology C1970257 HP:0005356 16 Feb 2016 Finding Decreased serum creatinine Human Phenotype Ontology C0428282 HP:0012101 16 Feb 2016 Finding Decreased serum estradiol Human Phenotype Ontology C0241011 HP:0008214 16 Feb 2016 Finding Decreased serum estriol Human Phenotype Ontology C4476608 HP:0025137 02 Apr 2017 Finding Decreased serum estrone Human Phenotype Ontology C4476611 HP:0025140 02 Apr 2017 Finding Decreased serum ferritin Human Phenotype Ontology C0241012 HP:0012343 16 Feb 2016 Finding Decreased serum insulin-like growth factor 1 Human Phenotype Ontology C4072897 HP:0030353 16 Feb 2016 Finding Decreased serum iron Human Phenotype Ontology C0235988 HP:0040303 04 Apr 2018 Finding Decreased serum leptin Human Phenotype Ontology C1837802 HP:0003292 16 Feb 2016 Finding Decreased serum testosterone level Human Phenotype Ontology C4073137 HP:0040171 16 Feb 2016 Finding Decreased sialylation of N-linked protein glycosylation Human Phenotype Ontology C4022941 HP:0012350 16 Feb 2016 Finding Decreased sialylation of O-linked protein glycosylation Human Phenotype Ontology C4022928 HP:0012363 16 Feb 2016 Finding Decreased size of nasopharyngeal adenoids Human Phenotype Ontology C4280689 HP:0040260 02 Apr 2017 Finding Decreased size of nerve terminals Human Phenotype Ontology C4025615 HP:0003443 16 Feb 2016 Finding Decreased size of the clitoris Human Phenotype Ontology C4280694 HP:0040254 02 Apr 2017 Finding Decreased skull ossification Human Phenotype Ontology C0432073 HP:0004331 16 Feb 2016 Finding Decreased small intestinal mucosa lactase activity Human Phenotype Ontology C4476604 HP:0025130 02 Apr 2017 Finding Decreased subcutaneous fat CN208633 16 Feb 2016 Finding Decreased sweating due to autonomic dysfunction Human Phenotype Ontology C1868527 HP:0007480 16 Feb 2016 Finding Decreased T cell activation Human Phenotype Ontology C1846550 HP:0005419 16 Feb 2016 Finding Decreased T regulatory cells CN228888 16 Feb 2016 Finding Decreased T3/T4 ratio Human Phenotype Ontology C4022845 HP:0012560 16 Feb 2016 Finding Decreased taste sensation Human Phenotype Ontology C0151934 HP:0000224 16 Feb 2016 Finding Decreased testicular size Human Phenotype Ontology C0241355 HP:0008734 16 Feb 2016 Finding Decreased testosterone in males Human Phenotype Ontology C1860121 HP:0008230 16 Feb 2016 Finding Decreased thalamic volume Human Phenotype Ontology C4022771 HP:0012695 16 Feb 2016 Finding Decreased thyroid-stimulating hormone level Human Phenotype Ontology C1295607 HP:0031098 04 Apr 2018 Finding Decreased transferrin saturation Human Phenotype Ontology C0919785 HP:0012464 16 Feb 2016 Finding Decreased transitional B cell count Human Phenotype Ontology C4072919 HP:0030380 16 Feb 2016 Finding Decreased urinary catecholamine concentration Human Phenotype Ontology C4022398 HP:0045012 16 Feb 2016 Finding Decreased urinary copper concentration Human Phenotype Ontology C4073164 HP:0045035 16 Feb 2016 Finding Decreased urinary glucose concentration Human Phenotype Ontology HP:0045013 16 Feb 2016 Finding Decreased urinary potassium Human Phenotype Ontology C0878640 HP:0012364 16 Feb 2016 Finding Decreased urinary sulfate Human Phenotype Ontology C1848958 HP:0003359 16 Feb 2016 Finding Decreased urinary urate Human Phenotype Ontology C4023118 HP:0011935 16 Feb 2016 Finding Decreased urine alpha-ketoglutarate concentration Human Phenotype Ontology C4022914 HP:0012403 16 Feb 2016 Finding Decreased urine bicarbonate concentration Human Phenotype Ontology C4022399 HP:0045011 16 Feb 2016 Finding decreased urine calcium 18 Aug 2017 Finding Decreased urine output Human Phenotype Ontology C3887784 HP:0011037 16 Feb 2016 Finding Decreased vibratory sensation C1295585 10 May 2016 Finding Decreased/absent ankle reflexes Human Phenotype Ontology C1850816 HP:0200101 16 Feb 2016 Finding Dedifferentiated chondrosarcoma MONDO C0862878 MONDO:0005013 17 Apr 2020 Disease Dedifferentiated liposarcoma MONDO C0205824 MONDO:0020563 17 Apr 2020 Disease Dedifferentiated solitary fibrous tumor MONDO C2699572 MONDO:0006178 17 Apr 2020 Disease Deduced levels of IGF-1, PRL, LH, testosterone, and hbA1c CN233053 16 Feb 2016 Finding Deep anterior chamber Human Phenotype Ontology C0423280 HP:0007765 16 Feb 2016 Finding Deep cerebral white matter hyperdensities Human Phenotype Ontology C4293685 HP:0030892 02 Apr 2017 Finding Deep corneal vascularisation MONDO C0155095 MONDO:0001430 17 Apr 2020 Disease Deep dermal perivascular inflammatory infiltrate Human Phenotype Ontology C4531289 HP:0031191 04 Apr 2018 Finding Deep episcleral hyperemia Human Phenotype Ontology C4476713 HP:0025340 02 Apr 2017 Finding Deep hemangioma MONDO C1333265 MONDO:0003096 17 Apr 2020 Disease Deep keratitis MONDO C2960633 MONDO:0004903 17 Apr 2020 Disease Deep leiomyoma MONDO C1333266 MONDO:0003289 17 Apr 2020 Disease Deep longitudinal plantar crease Human Phenotype Ontology C1859223 HP:0004681 16 Feb 2016 Finding Deep palmar and plantar creases CN235289 20 Feb 2016 Finding Deep palmar crease Human Phenotype Ontology C1857539 HP:0006191 16 Feb 2016 Finding Deep philtrum Human Phenotype Ontology C1839797 HP:0002002 16 Feb 2016 Finding Deep plantar creases Human Phenotype Ontology C1857953 HP:0001869 16 Feb 2016 Finding Deep septae CN235255 19 Feb 2016 Finding Deep tendon reflexes CN234859 16 Feb 2016 Finding Deep venous thrombosis Human Phenotype Ontology C0149871 HP:0002625 16 Feb 2016 Finding Deep venous thrombosis, protection against NCBI curation C3275410 16 Feb 2016 Disease Deep white matter hypodensities Human Phenotype Ontology C1856979 HP:0007321 16 Feb 2016 Finding Deep-set nails Human Phenotype Ontology C3277753 HP:0001814 16 Feb 2016 Finding Deeply set eye Human Phenotype Ontology C0423224 HP:0000490 16 Feb 2016 Finding Deeply set eyes 12 Jun 2020 Finding Defect in conserved oligomeric Golgi complex MONDO CN227196 MONDO:0017750 17 Apr 2020 Disease Defect in synthesis of adenosylcobalamin 16 Feb 2016 Disease Defect in V-ATPase MONDO CN227197 MONDO:0017752 17 Apr 2020 Disease Defect of palpebral conjunctiva Human Phenotype Ontology C4021868 HP:0430011 16 Feb 2016 Finding Defective apolipoprotein B-100 16 Feb 2016 Disease Defective B cell activation Human Phenotype Ontology C1846551 HP:0005384 16 Feb 2016 Finding Defective B cell differentiation Human Phenotype Ontology C1859624 HP:0005357 16 Feb 2016 Finding Defective dehydrogenation of isovaleryl CoA and butyryl CoA Human Phenotype Ontology HP:0003490 16 Feb 2016 Finding Defective DNA repair after ultraviolet radiation damage Human Phenotype Ontology C1968564 HP:0003079 16 Feb 2016 Finding Defective interfering particle induction, control of NCBI curation C1852265 125260 16 Feb 2016 Disease Defective phagocytic cell chemotaxis MONDO C0398735 MONDO:0024630 17 Apr 2020 Disease Defective phagocytic cell engulfment MONDO C0398742 MONDO:0024626 17 Apr 2020 Disease Defective phagocytic cell opsonization MONDO C0398733 MONDO:0024632 17 Apr 2020 Disease Defective production of NFKB1-dependent cytokines Human Phenotype Ontology C4023533 HP:0011114 16 Feb 2016 Finding Defective T cell proliferation Human Phenotype Ontology C4022557 HP:0030253 16 Feb 2016 Finding defective urinary concentrating ability, gouty arthritis, interstitial nephritis, and chronic renal failure, pain and swelling in small joints of hands, feet, knees, ankles, elbows, and wrists for 2 years along with the presence of nodules on the right little finger and the left ear lobe, swellings were present on second and third metacarpophalangeal joints and third proximal interphalangeal joints. 09 Nov 2017 Finding Deficiency anemia MONDO C0041782 MONDO:0001639 17 Apr 2020 Disease Deficiency of 2-methylbutyryl-CoA dehydrogenase NCBI curation C1864912 610006 16 Feb 2016 Disease Deficiency of 3-hydroxyacyl-CoA dehydrogenase C1291230 231530 16 Feb 2016 Disease Deficiency of acetyl-CoA acetyltransferase C1536500 203750 16 Feb 2016 Disease Deficiency of ADA2 13 May 2020 Disease Deficiency of alpha-mannosidase C0024748 248500 16 Feb 2016 Disease Deficiency of aromatic-L-amino-acid decarboxylase C1291564 608643 16 Feb 2016 Disease Deficiency of beta-ureidopropionase NCBI curation C1291512 613161 16 Feb 2016 Disease Deficiency of bisphosphoglycerate mutase NCBI curation C1291620 222800 16 Feb 2016 Disease Deficiency of butyryl-CoA dehydrogenase C0342783 201470 16 Feb 2016 Disease Deficiency of butyrylcholine esterase NCBI curation C1283400 617936 16 Feb 2016 Disease Deficiency of carnitine acetyltransferase C1443228 606175 16 Feb 2016 Disease Deficiency of coenzyme q cytochrome c reductase MONDO MONDO:0022795 22 Apr 2020 Disease Deficiency of cytochrome-b5 reductase NCBI curation C0268193 250800 16 Feb 2016 Disease Deficiency of ferroxidase NCBI curation C0878682 604290 16 Feb 2016 Disease Deficiency of galactokinase NCBI curation C0268155 230200 16 Feb 2016 Disease Deficiency of glutamate decarboxylase NCBI curation C1291560 16 Feb 2016 Disease Deficiency of glyceraldehyde-3-phosphate dehydrogenase C1291264 16 Feb 2016 Disease Deficiency of glycerate kinase C1291386 220120 16 Feb 2016 Disease Deficiency of glycerol kinase C0268418 307030 16 Feb 2016 Disease Deficiency of guanidinoacetate methyltransferase C0574080 612736 16 Feb 2016 Disease Deficiency of hyaluronoglucosaminidase C1291490 601492 16 Feb 2016 Disease Deficiency of hydroxymethylglutaryl-CoA lyase NCBI curation C0268601 246450 16 Feb 2016 Disease Deficiency of iodide peroxidase C1291299 274500 16 Feb 2016 Disease Deficiency of isobutyryl-CoA dehydrogenase C1969809 611283 16 Feb 2016 Disease Deficiency of malonyl-CoA decarboxylase NCBI curation C0342793 248360 16 Feb 2016 Disease Deficiency of N-acetylglucosamine-1-phosphotransferase Human Phenotype Ontology C0020725 HP:0003264 19 Mar 2018 Disease Deficiency of phosphoglycerate kinase C0684324 16 Feb 2016 Disease Deficiency of phosphoserine phosphatase NCBI curation C1291463 614023 16 Feb 2016 Disease Deficiency of pyrroline-5-carboxylate reductase C2931835 239510 16 Feb 2016 Disease Deficiency of ribose-5-phosphate isomerase C1291609 608611 16 Feb 2016 Disease Deficiency of steroid 11-beta-monooxygenase C0268292 202010 16 Feb 2016 Disease Deficiency of steroid 17-alpha-monooxygenase C0268285 202110 16 Feb 2016 Disease Deficiency of the interleukin-36 receptor antagonist MONDO C4759670 MONDO:0018452 17 Apr 2020 Disease Deficiency of transaldolase C1291329 606003 16 Feb 2016 Disease Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase NCBI curation C0268151 230400 16 Feb 2016 Disease Deficiency of xanthine oxidase NCBI curation C0268118 278300 16 Feb 2016 Disease Deficiency or absence of cytochrome b(-245) Human Phenotype Ontology C1844390 HP:0003514 16 Feb 2016 Finding Deficient breast volume or number MONDO CN261743 MONDO:0015853 17 Apr 2020 Disease Deficient excision of UV-induced pyrimidine dimers in DNA Human Phenotype Ontology C4025640 HP:0003213 16 Feb 2016 Finding Deficient ossification of hand bones Human Phenotype Ontology C4025376 HP:0004274 16 Feb 2016 Finding deficient ossification of the cervical vertebra CN225188 16 Feb 2016 Finding deficient ossification of the skull CN225189 16 Feb 2016 Finding Deficit in nonword repetition Human Phenotype Ontology C4025702 HP:0002526 16 Feb 2016 Finding Deficit in phonologic short-term memory Human Phenotype Ontology C1847609 HP:0002549 16 Feb 2016 Finding deformations chromosomal abnormality 05 Sep 2019 Finding Deformed forearm bones Human Phenotype Ontology C4025479 HP:0003959 16 Feb 2016 Finding Deformed humeral heads Human Phenotype Ontology C4025154 HP:0005687 16 Feb 2016 Finding Deformed humerus Human Phenotype Ontology C4025539 HP:0003871 16 Feb 2016 Finding Deformed radius Human Phenotype Ontology C4025467 HP:0003977 16 Feb 2016 Finding Deformed rib cage Human Phenotype Ontology C1838659 HP:0000886 16 Feb 2016 Finding Deformed sella turcica Human Phenotype Ontology C1846437 HP:0002681 16 Feb 2016 Finding Deformed tarsal bones Human Phenotype Ontology C1856746 HP:0008119 16 Feb 2016 Finding Degeneration of anterior horn cells Human Phenotype Ontology C1843505 HP:0002398 16 Feb 2016 Finding Degeneration of macula and posterior pole MONDO C0339436 MONDO:0002175 17 Apr 2020 Disease Degeneration of the lateral corticospinal tracts Human Phenotype Ontology C1846566 HP:0002314 16 Feb 2016 Finding Degeneration of the striatum Human Phenotype Ontology C4022417 HP:0040140 16 Feb 2016 Finding degenerative diseases of the basal ganglia 14 Mar 2019 Finding Degenerative disorder MONDO C1285162 MONDO:0024236 17 Apr 2020 Disease Degenerative liver disease Human Phenotype Ontology C4025230 HP:0005237 16 Feb 2016 Finding Degenerative myopia MONDO C0154778 MONDO:0001383 17 Apr 2020 Disease Degenerative optic myopathy 16 Feb 2016 Disease Degenerative vitreoretinopathy Human Phenotype Ontology C1843486 HP:0007964 16 Feb 2016 Finding Degos 'en cocarde' erythrokeratoderma 16 Feb 2016 Disease Dehydrated hereditary stomatocytosis 2 NCBI curation C4225242 616689 16 Feb 2016 Disease DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA 18 Oct 2019 Disease Dehydration Human Phenotype Ontology C0011175 HP:0001944 16 Feb 2016 Finding Dehydration polycythemia MONDO C0856815 MONDO:0002437 17 Apr 2020 Disease Deja vu Human Phenotype Ontology C0011194 HP:0012005 16 Feb 2016 Finding Dejerine-Sottas disease NCBI curation C0011195 145900 16 Feb 2016 Disease Dejerine-sottas neuropathy, autosomal dominant NCBI curation C4016028 16 Feb 2016 Disease Dejerine-Sottas syndrome CN263338 25 Aug 2017 Finding Dejerine-Sottas syndrome, autosomal dominant NCBI curation C4016264 16 Feb 2016 Disease Dejerine-sottas syndrome, sporadic NCBI curation C4016265 16 Feb 2016 Disease Delay CN235300 20 Feb 2016 Finding Delayed ability to sit Human Phenotype Ontology C4476710 HP:0025336 02 Apr 2017 Finding Delayed ability to stand Human Phenotype Ontology C4476709 HP:0025335 02 Apr 2017 Finding Delayed adrenarche Human Phenotype Ontology C1276238 HP:0025453 04 Apr 2018 Finding delayed AF closure 05 Sep 2019 Finding Delayed calcaneal ossification Human Phenotype Ontology C4024728 HP:0008142 16 Feb 2016 Finding Delayed closure of the anterior fontanelle Human Phenotype Ontology C3840083 HP:0001476 16 Feb 2016 Finding Delayed CNS myelination Human Phenotype Ontology C4021758 HP:0002188 16 Feb 2016 Finding Delayed cranial ossification due to cbfb haploinsufficiency NCBI curation 16 Feb 2016 Disease Delayed cranial suture closure Human Phenotype Ontology C0277828 HP:0000270 16 Feb 2016 Finding Delayed elbow epiphyseal ossification Human Phenotype Ontology C4025487 HP:0003947 16 Feb 2016 Finding Delayed encephalopathy after acute carbon monoxide poisoning MONDO MONDO:0005493 17 Apr 2020 Disease Delayed epiphyseal ossification Human Phenotype Ontology C1865200 HP:0002663 16 Feb 2016 Finding Delayed eruption of permanent teeth Human Phenotype Ontology C1849540 HP:0000696 16 Feb 2016 Finding Delayed eruption of primary teeth Human Phenotype Ontology C1849538 HP:0000680 16 Feb 2016 Finding Delayed eruption of teeth Human Phenotype Ontology C0239174 HP:0000684 16 Feb 2016 Finding Delayed female puberty C0271618 19 Feb 2016 Finding Delayed femoral head ossification Human Phenotype Ontology C1846446 HP:0008829 16 Feb 2016 Finding Delayed fine motor development Human Phenotype Ontology C4023681 HP:0010862 16 Feb 2016 Finding Delayed gross motor development Human Phenotype Ontology C1837658 HP:0002194 16 Feb 2016 Finding Delayed humeral epiphyseal ossification Human Phenotype Ontology C4021712 HP:0003894 16 Feb 2016 Finding Delayed menarche Human Phenotype Ontology C0949173 HP:0012569 16 Feb 2016 Finding delayed milestone C0476241 18 Jan 2019 Finding delayed milestones in childhood 05 Sep 2019 Finding Delayed myelination Human Phenotype Ontology C1277241 HP:0012448 16 Feb 2016 Finding Delayed myelination of the deep white matter 21 Dec 2019 Finding Delayed onset bleeding Human Phenotype Ontology C4280712 HP:0040232 02 Apr 2017 Finding Delayed ossification of carpal bones Human Phenotype Ontology C1841684 HP:0001216 16 Feb 2016 Finding Delayed ossification of pubic rami Human Phenotype Ontology C1865363 HP:0008785 16 Feb 2016 Finding Delayed ossification of the hand bones Human Phenotype Ontology C4021686 HP:0004052 16 Feb 2016 Finding Delayed ossification of the sacrum Human Phenotype Ontology C4476737 HP:0025371 02 Apr 2017 Finding Delayed ossification of the scaphoid Human Phenotype Ontology C4021670 HP:0004246 16 Feb 2016 Finding Delayed ossification of the trapezium Human Phenotype Ontology C4021669 HP:0004254 16 Feb 2016 Finding Delayed ossification of the trapezoid bone Human Phenotype Ontology C4021668 HP:0004257 16 Feb 2016 Finding Delayed ossification of vertebral epiphysis Human Phenotype Ontology C4022759 HP:0012711 16 Feb 2016 Finding Delayed oxidation of acetaldehyde Human Phenotype Ontology C4025601 HP:0003533 16 Feb 2016 Finding Delayed patellar ossification Human Phenotype Ontology C4021597 HP:0006454 16 Feb 2016 Finding Delayed peripheral myelination Human Phenotype Ontology C4023374 HP:0011401 16 Feb 2016 Finding Delayed phalangeal epiphyseal ossification Human Phenotype Ontology C4021609 HP:0006016 16 Feb 2016 Finding Delayed pneumatization of the mastoid process Human Phenotype Ontology C4021617 HP:0005906 16 Feb 2016 Finding Delayed proximal femoral epiphyseal ossification Human Phenotype Ontology C1855222 HP:0008828 16 Feb 2016 Finding Delayed puberty Human Phenotype Ontology C0034012 HP:0000823 02 Oct 2018 Disease Delayed pubic bone ossification Human Phenotype Ontology C1866710 HP:0008788 16 Feb 2016 Finding Delayed recoil upon stretching of skin Human Phenotype Ontology C4476584 HP:0025087 02 Apr 2017 Finding Delayed reflexes CN228286 16 Feb 2016 Finding Delayed self-feeding during toddler years Human Phenotype Ontology C4022920 HP:0012381 16 Feb 2016 Finding Delayed separation of umbilical cord C1260438 09 Dec 2016 Finding Delayed skeletal maturation Human Phenotype Ontology C0541764 HP:0002750 16 Feb 2016 Finding Delayed social development Human Phenotype Ontology C4022906 HP:0012434 16 Feb 2016 Finding delayed social skills 05 Sep 2019 Finding Delayed speech and language development Human Phenotype Ontology C0454644 HP:0000750 16 Feb 2016 Finding Delayed speech facial asymetry strabismus ear lobe creases 16 Feb 2016 Disease Delayed talus ossification Human Phenotype Ontology C4023168 HP:0011836 16 Feb 2016 Finding Delayed tarsal ossification Human Phenotype Ontology C1846853 HP:0008103 16 Feb 2016 Finding Delayed thelarche Human Phenotype Ontology C4476820 HP:0025515 04 Apr 2018 Finding Delayed upper limb epiphyseal ossification Human Phenotype Ontology C4025560 HP:0003840 16 Feb 2016 Finding Delayed vertebral ossification Human Phenotype Ontology C4476967 HP:0031096 04 Apr 2018 Finding Deletion 5q35 MONDO C2931574 MONDO:0015571 17 Apr 2020 Disease Deletion 6q16 q21 CN035855 16 Feb 2016 Disease Deletion of long arm of chromosome 18 C0432443 601808 16 Feb 2016 Disease Deletion of short arm of chromosome 18 C0432442 146390 16 Feb 2016 Disease Deletion syndrome 25 Feb 2020 Disease Delirium Human Phenotype Ontology C0011206 HP:0031258 04 Apr 2018 Finding Delivery by Odon device Human Phenotype Ontology C4072905 HP:0030366 16 Feb 2016 Finding Delleman Oorthuys syndrome 16 Feb 2016 Disease delta Thalassemia NCBI curation C0271990 16 Feb 2016 Disease Delta-0-thalassemia NCBI curation C0271991 16 Feb 2016 Disease Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency 16 Feb 2016 Disease Delta-beta thalassemia NCBI curation C0271985 16 Feb 2016 Disease Delta-heavy chain disease MONDO C0272253 MONDO:0000659 17 Apr 2020 Disease Delta-plus-thalassemia NCBI curation C4016190 16 Feb 2016 Disease Delta-zero-thalassemia, knossos type NCBI curation C4016178 16 Feb 2016 Disease Deltaretrovirus infections MONDO C0020091 MONDO:0021184 04 Jun 2020 Infectious disease Delusional disorder MONDO C0011251 MONDO:0004359 17 Apr 2020 Disease Delusions Human Phenotype Ontology C0011253 HP:0000746 16 Feb 2016 Finding Dementia Human Phenotype Ontology C0497327 HP:0000726 16 Feb 2016 Finding Dementia associated with AIDS C0001849 16 Feb 2016 Disease Dementia pugilistica MONDO MONDO:0019976 17 Apr 2020 Disease Dementia with epilepsy CN868257 16 Mar 2018 Disease Dementia, Deafness, and Sensory Neuropathy CN239189 02 Dec 2016 Disease Dementia, Lewy body, susceptibility to NCBI curation C2676021 16 Feb 2016 Disease Dementia/parkinsonism with non-alzheimer amyloid plaques NCBI curation C1852223 125320 16 Feb 2016 Disease dementias 14 Mar 2019 Finding Demodicidosis CN281806 16 Feb 2016 Infectious disease Demodicidosis of sebaceous gland MONDO CN281876 MONDO:0024284 04 Jun 2020 Infectious disease Demyelinating disease MONDO C0011303 MONDO:0002562 17 Apr 2020 Disease Demyelinating disease of central nervous system MONDO C0011302 MONDO:0020800 17 Apr 2020 Disease Demyelinating hereditary motor and sensory neuropathy MONDO CN776898 MONDO:0018776 17 Apr 2020 Disease Demyelinating motor neuropathy Human Phenotype Ontology C1969462 HP:0007220 16 Feb 2016 Finding demyelinating neuropathy C0270922 16 Feb 2016 Finding Demyelinating peripheral neuropathy Human Phenotype Ontology CN006206 HP:0007108 16 Feb 2016 Finding Demyelinating sensory neuropathy Human Phenotype Ontology C4023373 HP:0011402 16 Feb 2016 Finding demyelinating type CN220921 16 Feb 2016 Finding Demyer sequence NCBI curation 16 Feb 2016 Disease DEND syndrome NCBI curation C4303593 27 Apr 2018 Disease Dendritic cell sarcoma MONDO MONDO:0004380 17 Apr 2020 Disease Dendritic cell sarcoma not otherwise specified MONDO C1301364 MONDO:0019482 17 Apr 2020 Disease Dendritic cell tumor MONDO CN206984 MONDO:0020082 17 Apr 2020 Disease Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency NCBI curation C3280030 614172 16 Feb 2016 Disease Denervation of the diaphragm Human Phenotype Ontology C1858529 HP:0009109 16 Feb 2016 Finding Dengue disease MONDO C0011311 MONDO:0005502 04 Jun 2020 Infectious disease Dengue fever 16 Feb 2016 Disease Dengue fever, protection against NCBI curation C1858186 16 Feb 2016 Disease DENGUE FEVER, SUSCEPTIBILITY TO 16 Feb 2016 Disease DENGUE HEMORRHAGIC FEVER, SUSCEPTIBILITY TO 16 Feb 2016 Disease DENGUE SHOCK SYNDROME, SUSCEPTIBILITY TO 16 Feb 2016 Disease Dengue virus, susceptibility to NCBI curation C3280582 614371 16 Feb 2016 Disease Dennis-Fairhurst-Moore syndrome MONDO C2931775 MONDO:0022851 22 Apr 2020 Disease Dens evaginatus NCBI curation C0266034 125280 16 Feb 2016 Disease Dens in dente Human Phenotype Ontology C0011320 HP:0011088 16 Feb 2016 Finding Dens in dente and palatal invaginations C1852250 125300 16 Feb 2016 Disease Dense calcifications in the cerebellar dentate nucleus Human Phenotype Ontology C1859273 HP:0002461 16 Feb 2016 Finding Dense calvaria Human Phenotype Ontology C1854834 HP:0000250 16 Feb 2016 Finding Dense granule disease MONDO CN207010 MONDO:0020118 17 Apr 2020 Disease Dense metaphyseal bands Human Phenotype Ontology C4020919 HP:0100959 16 Feb 2016 Finding Dense posterior cortical cataract Human Phenotype Ontology C4024767 HP:0007948 16 Feb 2016 Finding Dent disease type 1 MONDO C1848336 MONDO:0010225 300009 28 May 2020 Disease Dent disease type 2 MONDO C1845167 MONDO:0010359 300555 22 Apr 2020 Disease Dent's disease C0878681 16 Feb 2016 Disease Dental (adult onset) 13 Apr 2018 Finding Dental (child onset) CN232537 16 Feb 2016 Finding Dental anomalies and short stature NCBI curation C1832594 601216 01 Jan 2020 Disease Dental crowding Human Phenotype Ontology C0040433 HP:0000678 16 Feb 2016 Finding Dental enamel pits Human Phenotype Ontology C1860711 HP:0009722 16 Feb 2016 Finding Dental fluorosis MONDO C0026618 MONDO:0006722 17 Apr 2020 Disease Dental malocclusion Human Phenotype Ontology C0024636 HP:0000689 16 Feb 2016 Finding Dental pulp calcification MONDO C0011401 MONDO:0003542 17 Apr 2020 Disease Dental pulp disease MONDO C0011405 MONDO:0003394 17 Apr 2020 Disease Dental pulp necrosis MONDO C0011407 MONDO:0001326 17 Apr 2020 Disease Dentatorubral-pallidoluysian atrophy MONDO C0751781 MONDO:0007435 125370 22 Apr 2020 Disease Denticles C0399380 125420 16 Feb 2016 Disease Dentigerous cyst MONDO C0011428 MONDO:0020815 17 Apr 2020 Disease Dentin caries MONDO C0266846 MONDO:0001041 17 Apr 2020 Disease Dentin dysplasia, type 1 NCBI curation C0399379 125400 03 Jan 2020 Disease Dentin dysplasia, type I, with extreme microdontia and misshapen teeth NCBI curation C3276551 26 May 2016 Disease Dentin dysplasia-sclerotic bones syndrome MONDO C1852201 MONDO:0007438 125440 17 Apr 2020 Disease Dentin sensitivity MONDO C0011432 MONDO:0004059 17 Apr 2020 Disease Dentine erosion MONDO MONDO:0001762 17 Apr 2020 Disease Dentinogenesis imperfecta Human Phenotype Ontology C0011436 HP:0000703 16 Feb 2016 Finding Dentinogenesis imperfecta - Shield's type II C2973527 125490 16 Feb 2016 Disease Dentinogenesis imperfecta - Shield's type III C0399378 125500 16 Feb 2016 Disease Dentinogenesis imperfecta limited to primary teeth Human Phenotype Ontology C4023558 HP:0011060 16 Feb 2016 Finding Dentinogenesis imperfecta of primary and permanent teeth Human Phenotype Ontology C4023539 HP:0011086 16 Feb 2016 Finding Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome MONDO C4303592 MONDO:0019102 17 Apr 2020 Disease Dentistry CN282547 17 Jun 2020 Pharmacological response Dentocutaneous disease with cataract MONDO CN207061 MONDO:0020233 17 Apr 2020 Disease Denture stomatitis MONDO C0038364 MONDO:0006723 17 Apr 2020 Disease Deoxygalactonojirimycin response NCBI curation CN233149 16 Feb 2016 Pharmacological response Deoxyribose-5-phosphate aldolase deficiency NCBI curation C1852200 125460 16 Feb 2016 Disease DEPDC5-Related Disorder 13 Oct 2017 Disease Dependency on intravenous nutrition Human Phenotype Ontology C4476622 HP:0025156 02 Apr 2017 Finding Dependent personality disorder MONDO C0011548 MONDO:0001157 17 Apr 2020 Disease Depersonalization disorder C0683416 16 Feb 2016 Disease Depigmentation/hyperpigmentation of skin Human Phenotype Ontology C4024864 HP:0007483 16 Feb 2016 Finding Depigmented fundus Human Phenotype Ontology C4024816 HP:0007680 16 Feb 2016 Finding Depletion of components of the alternative complement pathway Human Phenotype Ontology C1969220 HP:0005389 16 Feb 2016 Finding Depletion of mitochondrial DNA in liver Human Phenotype Ontology C4025018 HP:0006581 16 Feb 2016 Finding Depletion of mitochondrial DNA in muscle tissue Human Phenotype Ontology C4021521 HP:0009141 16 Feb 2016 Finding Deposits immunoreactive to beta-amyloid protein Human Phenotype Ontology C1853934 HP:0003791 16 Feb 2016 Finding Depressed glabella Human Phenotype Ontology C4023455 HP:0011222 16 Feb 2016 Finding Depressed mood NCBI curation C0344315 17 Jan 2020 Disease Depressed nasal bridge Human Phenotype Ontology C1836542 HP:0005280 16 Feb 2016 Finding Depressed nasal ridge Human Phenotype Ontology C1842876 HP:0000457 16 Feb 2016 Finding Depressed nasal tip Human Phenotype Ontology C1859717 HP:0000437 16 Feb 2016 Finding Depression;Depressive Disorder PharmGKB 17 Feb 2017 Disease Depression;Depressive Disorder;Depressive Disorder, Major PharmGKB 17 Feb 2017 Disease Depressive Disorder PharmGKB CN236658 18 May 2016 Disease Depressive Disorder;Depressive Disorder, Major;Mood Disorders PharmGKB 17 Feb 2017 Disease Depressivity Human Phenotype Ontology C0011581 HP:0000716 04 Apr 2018 Finding Der Kaloustian Mcintosh Silver syndrome 16 Feb 2016 Disease Dermal atrophy Human Phenotype Ontology C0151514 HP:0004334 16 Feb 2016 Finding Dermal eccrine cylindroma 16 Feb 2016 Disease Dermal ridges, nelson syndrome NCBI curation C1852161 125530 16 Feb 2016 Disease Dermal ridges, patternless NCBI curation C1852160 125540 16 Feb 2016 Disease Dermal translucency Human Phenotype Ontology C1836646 HP:0010648 16 Feb 2016 Finding Dermal unilateral segmental cavernous angioma MONDO C0474966 MONDO:0002526 17 Apr 2020 Disease Dermatan sulfate excretion in urine Human Phenotype Ontology C1854774 HP:0008301 16 Feb 2016 Finding Dermatitis herpetiformis C0011608 16 Feb 2016 Disease Dermatitis herpetiformis, familial NCBI curation C1832586 601230 16 Feb 2016 Disease Dermatitis, atopic OMIM phenotypic series C0011615 PS603165 603165 16 Feb 2016 Disease Dermatitis, atopic, 1 NCBI curation 16 Feb 2016 Disease Dermatitis, atopic, 2 NCBI curation C1853965 605803 16 Feb 2016 Disease Dermatitis, atopic, 2, susceptibility to NCBI curation C2675432 16 Feb 2016 Disease Dermatitis, atopic, 3 NCBI curation C1853964 605804 16 Feb 2016 Disease Dermatitis, atopic, 4 NCBI curation C1853963 605805 16 Feb 2016 Disease Dermatitis, atopic, 5 NCBI curation C1853900 605844 16 Feb 2016 Disease Dermatitis, atopic, 6 NCBI curation C1853899 605845 16 Feb 2016 Disease Dermatitis, atopic, 7 NCBI curation C2751599 613064 16 Feb 2016 Disease Dermatitis, atopic, 8 NCBI curation C3150763 613518 16 Feb 2016 Disease Dermatitis, atopic, 9 NCBI curation C3150764 613519 16 Feb 2016 Disease Dermatitis, atopic, susceptibility to, 1 CN259000 12 Jun 2019 Disease Dermatocardioskeletal syndrome Boronne type 16 Feb 2016 Disease Dermatochalasis Human Phenotype Ontology C0423124 HP:0010750 16 Feb 2016 Finding Dermatofibroma 16 Feb 2016 Disease Dermatofibrosarcoma protuberans C3693482 607907 16 Feb 2016 Disease Dermatofibrosis lenticularis disseminata C0265514 166700 16 Feb 2016 Disease Dermatofibrosis lenticularis disseminata, isolated NCBI curation C3149399 16 Feb 2016 Disease dermatoglyphic abnormality 21 Jun 2020 Finding Dermatoglyphic ridges abnormal Human Phenotype Ontology C4025152 HP:0005689 16 Feb 2016 Finding Dermatoglyphic variants Human Phenotype Ontology C4025116 HP:0005882 16 Feb 2016 Finding Dermatoglyphics--arch on any digit NCBI curation C1852158 125570 16 Feb 2016 Disease Dermatoglyphics--finger ridge count NCBI curation C1852157 125580 16 Feb 2016 Disease Dermatoglyphics--fingerprint pattern NCBI curation C1852156 125590 16 Feb 2016 Disease Dermatoglyphics--hypothenar radial arch NCBI curation C1857315 221780 16 Feb 2016 Disease Dermatoglyphics--palmar triradius d, absence of NCBI curation C1857329 221760 16 Feb 2016 Disease Dermatographic urticaria Human Phenotype Ontology C0343065 HP:0011971 16 Feb 2016 Finding Dermatoleukodystrophy C1857314 221790 16 Feb 2016 Disease Dermatologic (adult onset) CN232464 16 Feb 2016 Finding Dermatologic (child onset) CN232538 16 Feb 2016 Finding Dermatological manifestations of systemic disorders Human Phenotype Ontology C4025812 HP:0001005 16 Feb 2016 Finding Dermatological phenotype CN230737 16 Feb 2016 Finding Dermatology CN282548 17 Jun 2020 Pharmacological response Dermatomycosis MONDO C0011630 MONDO:0002040 04 Jun 2020 Infectious disease Dermatomyositis C0011633 16 Feb 2016 Disease Dermatoosteolysis, Kirghizian type MONDO C1857301 MONDO:0009095 221810 22 Apr 2020 Disease Dermatopathia pigmentosa reticularis C0406778 125595 16 Feb 2016 Disease Dermatophytosis MONDO C0011636 MONDO:0004678 04 Jun 2020 Infectious disease Dermatophytosis of groin and perianal area MONDO C0011638 MONDO:0001405 04 Jun 2020 Infectious disease Dermatophytosis of scalp or beard MONDO CN281746 MONDO:0002967 04 Jun 2020 Infectious disease Dermatosis of eyelid MONDO C1274150 MONDO:0024480 17 Apr 2020 Disease Dermatosis papulosa nigra NCBI curation C0011645 125600 16 Feb 2016 Disease Dermis disease MONDO CN227618 MONDO:0021154 17 Apr 2020 Disease Dermis elastic tissue disorder MONDO CN227616 MONDO:0019292 17 Apr 2020 Disease Dermis tumor MONDO C0346041 MONDO:0002300 17 Apr 2020 Disease Dermo-odonto dysplasia MONDO C1852144 MONDO:0007449 125640 22 Apr 2020 Disease Dermoid cyst Human Phenotype Ontology C0011649 HP:0025247 02 Apr 2017 Finding Dermoid cyst of skin MONDO C0349502 MONDO:0001778 17 Apr 2020 Disease Dermoid cysts, familial frontonasal NCBI curation C1833473 600679 16 Feb 2016 Disease Dermotrichic syndrome MONDO C0795919 MONDO:0020475 17 Apr 2020 Disease Desanto-shinawi syndrome NCBI curation C4225239 616708 16 Feb 2016 Disease Desbuquois dysplasia 1 NCBI curation C4012146 251450 23 Oct 2016 Disease Desbuquois dysplasia 2 NCBI curation C4014294 615777 16 Feb 2016 Disease DESBUQUOIS DYSPLASIA, KIM VARIANT 16 Feb 2016 Disease Desbuquois syndrome C0432242 23 Oct 2016 Disease Descemet Membrane Folds Human Phenotype Ontology C0155116 HP:0012039 16 Feb 2016 Finding Descending aortic dissection Human Phenotype Ontology C4022878 HP:0012499 16 Feb 2016 Finding Descending colon cancer MONDO C0153435 MONDO:0001462 17 Apr 2020 Disease descending mouth commissures 22 Aug 2019 Finding Descending thoracic aorta aneurysm Human Phenotype Ontology C1388233 HP:0004959 17 Oct 2018 Finding Described as Farber disease Type 5 according to Gene Reviews (https://www.ncbi.nlm.nih.gov/books/NBK488189/). 13 Feb 2020 Finding Desflurane response CN263355 10 Mar 2020 Pharmacological response desflurane response - Toxicity/ADR PharmGKB 1445400924PA164749136 28 Jun 2019 Pharmacological response Desipramine response NCBI curation CN233052 16 Feb 2016 Pharmacological response desipramine response - Dosage, Toxicity/ADR PharmGKB CN236523 1183617220 18 May 2016 Pharmacological response Desmin bodies Human Phenotype Ontology C4022158 HP:0100300 16 Feb 2016 Finding Desmin-related myopathy with Mallory body-like inclusions MONDO C4275073 MONDO:0019398 17 Apr 2020 Disease Desmoid disease, hereditary C1851124 135290 16 Feb 2016 Disease Desmoid tumor NCBI curation CN072436 16 Feb 2016 Disease Desmoid tumor, somatic NCBI curation C2675440 16 Feb 2016 Disease Desmoid tumors Human Phenotype Ontology C0079218 HP:0100245 16 Feb 2016 Finding Desmoplastic ameloblastoma MONDO C0457533 MONDO:0006179 17 Apr 2020 Disease Desmoplastic infantile astrocytoma C0457179 16 Feb 2016 Disease Desmoplastic infantile astrocytoma/ganglioglioma MONDO CN201979 MONDO:0016731 17 Apr 2020 Disease Desmoplastic infantile ganglioglioma C1321878 16 Feb 2016 Disease Desmoplastic melanoma MONDO C1333280 MONDO:0044785 17 Apr 2020 Disease Desmoplastic nevus MONDO C0346098 MONDO:0044797 17 Apr 2020 Disease Desmoplastic small round cell tumor NCBI curation C0281508 16 Feb 2016 Disease Desmoplastic spitz nevus MONDO C1275419 MONDO:0044800 17 Apr 2020 Disease Desmosterolosis C1865596 602398 16 Feb 2016 Disease Desquamation of skin soon after birth Human Phenotype Ontology C1842714 HP:0007549 16 Feb 2016 Finding Desquamative interstitial pneumonia C0238378 263000 16 Feb 2016 Disease Desulfovibrionaceae infectious disease MONDO CN281811 MONDO:0006708 04 Jun 2020 Infectious disease Detrusor sphincter dyssynergia Human Phenotype Ontology C0341747 HP:0025488 04 Apr 2018 Finding Deuteranomaly Human Phenotype Ontology C4023315 HP:0011520 02 Apr 2017 Finding Deuteranopia Human Phenotype Ontology C4551635 HP:0011521 303800 04 Apr 2018 Disease Deutetrabenazine response NCBI curation CN258189 07 Feb 2019 Pharmacological response develomental disorder of speech and language 05 Sep 2019 Finding Developemental delay 23 Jan 2020 Finding Developmental and epileptic encephalopathy MONDO MONDO:0100062 17 Apr 2020 Disease Developmental and speech delay due to SOX5 deficiency MONDO C4749915 MONDO:0017782 17 Apr 2020 Disease Developmental anomaly of metabolic origin MONDO CN226658 MONDO:0015327 17 Apr 2020 Disease Developmental Coordination Disorder C0011757 18 Jan 2019 Finding Developmental defect of the eye MONDO CN227795 MONDO:0020145 17 Apr 2020 Disease Developmental delay NCBI curation C0424605 16 Feb 2016 Disease Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing NCBI curation CN130018 16 Feb 2016 Disease Developmental delay and microcephaly CN235216 19 Feb 2016 Disease DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES OMIM C4693376 617836 617836 27 Jan 2018 Disease Developmental delay AND/OR other significant developmental or morphological phenotypes NCBI curation CN218420 16 Feb 2016 Finding Developmental delay hypotonia extremities hypertrophy 16 Feb 2016 Disease Developmental delay in ultrasound 26 Oct 2019 Finding developmental delay sensory processing disorder 05 Sep 2019 Finding developmental delay with absent seizures 12 Sep 2018 Disease developmental delay with intractable seizures 12 Sep 2018 Disease DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM OMIM C5193106 618454 618454 15 Jun 2019 Disease developmental delay with seizures 12 Sep 2018 Disease Developmental delay with short stature, dysmorphic features, and sparse hair NCBI curation C4310801 616901 31 Dec 2019 Disease DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES OMIM C5193092 618430 618430 22 May 2019 Disease Developmental delay without periventricular leukomalacia 20 Sep 2018 Finding Developmental delay, epilepsy, and neonatal diabetes NCBI curation C1853564 16 Feb 2016 Disease DEVELOPMENTAL DELAY, EPILEPSY, AND NEONATAL DIABETES 1 CN280873 02 May 2020 Disease DEVELOPMENTAL DELAY, EPILEPSY, AND NEONATAL DIABETES 2 CN280874 02 May 2020 Disease Developmental delay, intellectual disability, obesity, and dysmorphic features MONDO C4693860 MONDO:0060712 617991 22 Apr 2020 Disease Developmental delay, mental retardation, splenomegaly, pancytopenia, hypogonadism and brittle hair CN233348 16 Feb 2016 Disease developmental delay, microcephaly CN225588 16 Feb 2016 Finding developmental delay, seizures, pulmonary stenosis, obesity and dysmorphic features 16 Jan 2020 Finding Developmental delay-deafness syndrome, Hildebrand type MONDO MONDO:0015602 17 Apr 2020 Disease developmental diorder of speech and language 05 Sep 2019 Finding Developmental disability CN244035 01 Jun 2017 Finding Developmental disorder NCBI curation C0008073 16 Feb 2016 Disease Developmental disorder of mental health MONDO MONDO:0005503 17 Apr 2020 Disease developmental disorder of motor function 05 Sep 2019 Finding developmental disorder of scholastic skills 05 Sep 2019 Finding developmental disorder of speech and language 05 Sep 2019 Finding Developmental dyslexia C0920296 16 Feb 2016 Disease Developmental dysplasia of hip 16 Feb 2016 Disease Developmental dysplasia of the hip OMIM phenotypic series C1840555 PS142700 13 May 2020 Disease Developmental dysplasia of the hip MONDO C1840555 MONDO:0000158 13 May 2020 Disease Developmental dysplasia of the hip 1 NCBI curation C1306065 142700 23 Sep 2016 Disease Developmental dysplasia of the hip 2 NCBI curation C3715079 615612 16 Feb 2016 Disease developmental language impairment C0454636 18 Jan 2019 Finding Developmental malformations-deafness-dystonia syndrome MONDO C1846331 MONDO:0011823 607371 17 Apr 2020 Disease Developmental regression Human Phenotype Ontology C1836830 HP:0002376 16 Feb 2016 Finding developmental speech disorder C0270330 18 Jan 2019 Finding Developmental Split Brain Syndrome NCBI curation CN698603 11 Dec 2017 Disease Developmental stagnation Human Phenotype Ontology C1848980 HP:0007281 16 Feb 2016 Finding Developmental stagnation at onset of seizures Human Phenotype Ontology C1836829 HP:0006834 16 Feb 2016 Finding develpomental delay 05 Sep 2019 Finding Deviated great toes 11 May 2019 Finding Deviated nasal septum Human Phenotype Ontology C0549397 HP:0004411 16 Feb 2016 Finding Deviated nasal tip Human Phenotype Ontology C4021114 HP:0011831 16 Feb 2016 Finding Deviation of finger Human Phenotype Ontology C4759671 HP:0004097 16 Feb 2016 Finding Deviation of the 2nd finger Human Phenotype Ontology C4021468 HP:0009468 16 Feb 2016 Finding Deviation of the 2nd toe Human Phenotype Ontology C4021297 HP:0010326 16 Feb 2016 Finding Deviation of the 3rd finger Human Phenotype Ontology C4021493 HP:0009317 16 Feb 2016 Finding Deviation of the 3rd toe Human Phenotype Ontology C4021295 HP:0010332 16 Feb 2016 Finding Deviation of the 4th finger Human Phenotype Ontology C4024477 HP:0009273 16 Feb 2016 Finding Deviation of the 4th toe Human Phenotype Ontology C4021293 HP:0010338 16 Feb 2016 Finding Deviation of the 5th finger Human Phenotype Ontology C4021515 HP:0009179 16 Feb 2016 Finding Deviation of the 5th toe Human Phenotype Ontology C4021291 HP:0010344 16 Feb 2016 Finding Deviation of the hallux Human Phenotype Ontology C4021344 HP:0010051 16 Feb 2016 Finding Deviation of the hand or of fingers of the hand Human Phenotype Ontology C4024338 HP:0009484 16 Feb 2016 Finding Deviation of the thumb Human Phenotype Ontology C3552414 HP:0009603 16 Feb 2016 Finding Deviation of toes Human Phenotype Ontology C4022039 HP:0100498 16 Feb 2016 Finding Devriendt Legius Fryns syndrome 16 Feb 2016 Disease Devriendt syndrome C1857830 610136 16 Feb 2016 Disease Devriendt Vandenberghe Fryns syndrome 16 Feb 2016 Disease Dexamethasone sensitive hypertension 16 Feb 2016 Disease Dexamethasone-suppresible primary hyperaldosteronism Human Phenotype Ontology C4023209 HP:0011739 16 Feb 2016 Finding Dexlansoprazole response NCBI curation CN474479 20 Sep 2017 Pharmacological response Dextrocardia Human Phenotype Ontology C0011813 HP:0001651 16 Feb 2016 Finding Dextrocardia with situs inversus C1395317 16 Feb 2016 Disease Dextrocardia with unusual facies and microphthalmia C1857298 221950 16 Feb 2016 Disease Dextrocardia-bronchiectasis-sinusitis 16 Feb 2016 Disease Dextromethorphan response CN077975 16 Feb 2016 Pharmacological response Dextrotransposition of the great arteries Human Phenotype Ontology C3531771 HP:0031348 04 Apr 2018 Finding DFNA 3 Nonsyndromic Hearing Loss and Deafness NCBI curation CN043589 16 Feb 2016 Disease DFNA6/14/38 Nonsyndromic Low-Frequency Sensorineural Hearing Loss GeneReviews CN184629 NBK4144 16 Feb 2016 Disease DFNB 8/10 Nonsyndromic Hearing Loss and Deafness CN118854 16 Feb 2016 Disease DFNB31-Related Disorders 23 May 2019 Disease Di-George syndrome CN734570 03 Jan 2018 Disease Diabetes NCBI curation C1320657 03 Jun 2019 Disease Diabetes hypogonadism deafness mental retardation 16 Feb 2016 Disease Diabetes insipidus Human Phenotype Ontology C0011848 HP:0000873 16 Feb 2016 Finding Diabetes insipidus nephrogenic mental retardation and intracerebral calcification 16 Feb 2016 Disease Diabetes insipidus, nephrogenic, autosomal dominant NCBI curation C4015885 16 Feb 2016 Disease Diabetes insipidus, nephrogenic, autosomal recessive NCBI curation C4015884 16 Feb 2016 Disease Diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification NCBI curation C1857297 221995 16 Feb 2016 Disease Diabetes insipidus, neurohypophyseal type NCBI curation CN074293 304900 24 Aug 2016 Disease Diabetes insipidus, neurohypophyseal, autosomal recessive NCBI curation C4016430 16 Feb 2016 Disease Diabetes mellitus PharmGKB C0011849 11 Jul 2019 Disease Diabetes mellitus Human Phenotype Ontology C0011849 HP:0000819 11 Jul 2019 Disease Diabetes mellitus (disease) MONDO MONDO:0005015 17 Apr 2020 Disease Diabetes mellitus AND insipidus with optic atrophy AND deafness C4551693 222300 16 Feb 2016 Disease Diabetes mellitus type 1 NCBI curation C0011854 222100 16 Feb 2016 Disease Diabetes mellitus type 2 Human Phenotype Ontology C0011860 HP:0005978 125853 06 Jul 2018 Disease Diabetes mellitus type 2 associated cataract MONDO MONDO:0005408 17 Apr 2020 Disease diabetes mellitus with neuropathy 05 Sep 2019 Finding Diabetes mellitus, congenital autoimmune NCBI curation C1857958 605026 16 Feb 2016 Disease Diabetes mellitus, insulin-dependent, 10 NCBI curation C1866040 601942 16 Feb 2016 Disease Diabetes mellitus, insulin-dependent, 11 NCBI curation C1832605 601208 16 Feb 2016 Disease Diabetes mellitus, insulin-dependent, 12 NCBI curation C1832392 601388 16 Feb 2016 Disease Diabetes mellitus, insulin-dependent, 13 NCBI curation C1832474 601318 16 Feb 2016 Disease Diabetes mellitus, insulin-dependent, 15 NCBI curation C1866519 601666 16 Feb 2016 Disease Diabetes mellitus, insulin-dependent, 17 NCBI curation C1864068 603266 16 Feb 2016 Disease Diabetes mellitus, insulin-dependent, 18 NCBI curation C1854125 605598 16 Feb 2016 Disease Diabetes mellitus, insulin-dependent, 19 NCBI curation C1857808 610155 16 Feb 2016 Disease Diabetes mellitus, insulin-dependent, 2 NCBI curation C1852092 125852 16 Feb 2016 Disease Diabetes mellitus, insulin-dependent, 20 NCBI curation C2675866 612520 23 May 2016 Disease Diabetes mellitus, insulin-dependent, 21 NCBI curation C2675865 612521 16 Feb 2016 Disease Diabetes mellitus, insulin-dependent, 22 NCBI curation C2675864 612522 16 Feb 2016 Disease Diabetes mellitus, insulin-dependent, 23 NCBI curation C2675472 612622 16 Feb 2016 Disease Diabetes mellitus, insulin-dependent, 24 NCBI curation C2751697 613006 16 Feb 2016 Disease Diabetes mellitus, insulin-dependent, 3 NCBI curation C1838262 600318 16 Feb 2016 Disease Diabetes mellitus, insulin-dependent, 4 NCBI curation C1838261 600319 16 Feb 2016 Disease Diabetes mellitus, insulin-dependent, 5 NCBI curation C1838260 600320 16 Feb 2016 Disease Diabetes mellitus, insulin-dependent, 6 NCBI curation C1866041 601941 16 Feb 2016 Disease Diabetes mellitus, insulin-dependent, 7 NCBI curation C1838259 600321 16 Feb 2016 Disease Diabetes mellitus, insulin-dependent, 8 NCBI curation C1833218 600883 16 Feb 2016 Disease Diabetes mellitus, insulin-dependent, susceptibility to NCBI curation 16 Feb 2016 Disease Diabetes mellitus, insulin-dependent, X-linked, susceptibility to NCBI curation C1848042 300136 16 Feb 2016 Disease Diabetes mellitus, ketosis-prone NCBI curation C3837958 612227 16 Feb 2016 Disease Diabetes mellitus, ketosis-prone, susceptibility to NCBI curation 16 Feb 2016 Disease Diabetes mellitus, neonatal, with congenital hypothyroidism NCBI curation C1857775 610199 16 Feb 2016 Disease Diabetes mellitus, noninsulin-dependent, 1 NCBI curation C1832544 601283 16 Feb 2016 Disease Diabetes mellitus, noninsulin-dependent, 2 NCBI curation C1832387 601407 16 Feb 2016 Disease Diabetes mellitus, noninsulin-dependent, 3 NCBI curation C1863594 603694 16 Feb 2016 Disease Diabetes mellitus, noninsulin-dependent, 4 NCBI curation C1842642 608036 16 Feb 2016 Disease Diabetes mellitus, noninsulin-dependent, 5 NCBI curation C4015183 616087 16 Feb 2016 Disease Diabetes mellitus, noninsulin-dependent, association with NCBI curation C4016960 16 Feb 2016 Disease Diabetes mellitus, noninsulin-dependent, late-onset NCBI curation C4016117 16 Feb 2016 Disease Diabetes mellitus, noninsulin-dependent, maternally transmitted NCBI curation C4017627 16 Feb 2016 Disease Diabetes mellitus, noninsulin-dependent, modifier of NCBI curation 16 Feb 2016 Disease Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension NCBI curation C4016738 16 Feb 2016 Disease DIABETES MELLITUS, PERMANENT NEONATAL 2 OMIM CN280868 618856 618856 02 May 2020 Disease DIABETES MELLITUS, PERMANENT NEONATAL 3 OMIM CN280869 618857 618857 02 May 2020 Disease DIABETES MELLITUS, PERMANENT NEONATAL 4 OMIM CN280870 618858 618858 02 May 2020 Disease Diabetes mellitus, permanent neonatal, with cerebellar agenesis NCBI curation C1836780 609069 16 Feb 2016 Disease Diabetes mellitus, permanent neonatal, with neurologic features NCBI curation C1833102 16 Feb 2016 Disease Diabetes mellitus, type 1, susceptibility to NCBI curation 16 Feb 2016 Disease DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO 16 Feb 2016 Disease Diabetes Mellitus, Type 2;Heart Failure;Pulmonary Disease, Chronic Obstructive PharmGKB 17 Feb 2017 Disease Diabetes mellitus, type II, autosomal dominant C0342277 26 May 2016 Disease Diabetes mellitus, type II, digenic NCBI curation C4017629 27 Jun 2016 Disease Diabetes persistent mullerian ducts 16 Feb 2016 Disease DIABETES, TYPE II, SUSCEPTIBILITY TO 16 Feb 2016 Disease Diabetes-deafness syndrome maternally transmitted C0342289 520000 16 Feb 2016 Disease Diabetic autonomic neuropathy MONDO C0271686 MONDO:0001299 17 Apr 2020 Disease Diabetic cataract MONDO C0011876 MONDO:0001687 17 Apr 2020 Disease Diabetic embryopathy MONDO C3830518 MONDO:0016018 17 Apr 2020 Disease Diabetic encephalopathy MONDO MONDO:0000489 17 Apr 2020 Disease Diabetic ketoacidosis Human Phenotype Ontology C0011880 HP:0001953 16 Feb 2016 Finding Diabetic macular edema MONDO C0730285 MONDO:0004728 17 Apr 2020 Disease Diabetic mastopathy C1167667 16 Feb 2016 Disease Diabetic nephropathy MONDO MONDO:0005016 17 Apr 2020 Disease Diabetic neuropathy MONDO C0011882 MONDO:0006626 17 Apr 2020 Disease Diabetic peripheral angiopathy MONDO MONDO:0000960 17 Apr 2020 Disease Diabetic polyneuropathy MONDO C0271680 MONDO:0001583 17 Apr 2020 Disease Diabetic retinopathy NCBI curation C0011884 16 Feb 2016 Disease Diagnostic 13 Oct 2017 Finding Diagnostic; Family Testing; ADHD NCBI curation 27 Jan 2020 Finding Diagonal earlobe crease Human Phenotype Ontology C4531074 HP:0031511 04 Apr 2018 Finding Dialeptic seizures Human Phenotype Ontology C4023515 HP:0011146 16 Feb 2016 Finding Diaminoaciduria Human Phenotype Ontology C4024698 HP:0008339 16 Feb 2016 Finding Diaminopentanuria NCBI curation C1857285 222350 16 Feb 2016 Disease Diamond-Blackfan anemia OMIM phenotypic series C1260899 PS105650 16 Feb 2016 Disease Diamond-Blackfan anemia 1 NCBI curation C2676137 105650 16 Feb 2016 Disease Diamond-Blackfan anemia 10 NCBI curation C2750080 613309 16 Feb 2016 Disease Diamond-Blackfan anemia 11 NCBI curation C3554042 614900 16 Feb 2016 Disease Diamond-Blackfan anemia 12 NCBI curation C3809888 615550 16 Feb 2016 Disease Diamond-Blackfan anemia 13 NCBI curation C4014641 615909 16 Feb 2016 Disease Diamond-Blackfan anemia 14 with mandibulofacial dysostosis NCBI curation C4225422 300946 16 Feb 2016 Disease Diamond-Blackfan anemia 15 with mandibulofacial dysostosis NCBI curation C4225411 606164 24 Aug 2016 Disease Diamond-Blackfan anemia 16 NCBI curation C4479424 617408 20 Jun 2017 Disease Diamond-Blackfan anemia 17 NCBI curation C4479428 617409 20 Jun 2017 Disease Diamond-Blackfan anemia 18 NCBI curation C5193020 618310 08 Mar 2019 Disease Diamond-Blackfan anemia 19 NCBI curation C5193021 618312 08 Mar 2019 Disease Diamond-Blackfan anemia 2 C1853666 606129 16 Feb 2016 Disease Diamond-Blackfan anemia 20 NCBI curation C5193022 618313 08 Mar 2019 Disease Diamond-Blackfan anemia 3 C1857719 610629 16 Feb 2016 Disease Diamond-Blackfan anemia 4 NCBI curation C2675860 612527 16 Feb 2016 Disease Diamond-Blackfan anemia 5 NCBI curation C2675859 612528 16 Feb 2016 Disease Diamond-Blackfan anemia 6 NCBI curation C2931850 612561 25 Feb 2019 Disease Diamond-Blackfan anemia 7 NCBI curation C2675512 612562 16 Feb 2016 Disease Diamond-Blackfan anemia 8 NCBI curation C2675511 612563 16 Feb 2016 Disease Diamond-Blackfan anemia 9 NCBI curation C2750081 613308 16 Feb 2016 Disease DIAMOND-BLACKFAN ANEMIA-LIKE OMIM C4693556 617911 617911 18 Mar 2018 Disease Dianzani autoimmune lymphoproliferative disease NCBI curation C2931071 605233 16 Feb 2016 Disease Diaphanospondylodysostosis NCBI curation C1842691 608022 16 Feb 2016 Disease Diaphoresis (with pheochromocytoma) C1854341 16 Feb 2016 Finding Diaphragm disease MONDO C0152097 MONDO:0005728 17 Apr 2020 Disease Diaphragma sellae meningioma MONDO C1333283 MONDO:0004108 17 Apr 2020 Disease Diaphragmatic agenesia 16 Feb 2016 Disease Diaphragmatic agenesis radial aplasia omphalocele 16 Feb 2016 Disease Diaphragmatic defect limb deficiency skull defect 16 Feb 2016 Disease Diaphragmatic defects, limb deficiencies, and ossification defects of skull NCBI curation C1832668 601163 16 Feb 2016 Disease Diaphragmatic eventration Human Phenotype Ontology C0011981 HP:0009110 16 Feb 2016 Finding Diaphragmatic eventration (disease) MONDO MONDO:0006726 17 Apr 2020 Disease Diaphragmatic hernia 1 NCBI curation 16 Feb 2016 Disease Diaphragmatic hernia 2 NCBI curation C1857284 222400 16 Feb 2016 Disease Diaphragmatic hernia 3 NCBI curation C1857781 610187 16 Feb 2016 Disease Diaphragmatic hernia exomphalos corpus callosum agenesis 16 Feb 2016 Disease Diaphragmatic hernia upper limb defects 16 Feb 2016 Disease Diaphragmatic or abdominal wall malformation MONDO CN227732 MONDO:0020021 17 Apr 2020 Disease Diaphragmatic paralysis Human Phenotype Ontology C4551685 HP:0006597 16 Feb 2016 Finding Diaphragmatic weakness Human Phenotype Ontology C0521532 HP:0009113 16 Feb 2016 Finding Diaphragmitis MONDO C0011985 MONDO:0020830 17 Apr 2020 Disease Diaphyseal cortical sclerosis Human Phenotype Ontology C1833739 HP:0005045 16 Feb 2016 Finding Diaphyseal dysplasia Human Phenotype Ontology C0011989 HP:0100252 131300 16 Feb 2016 Disease Diaphyseal medullary stenosis-bone malignancy syndrome MONDO C1862177 MONDO:0007205 112250 17 Apr 2020 Disease Diaphyseal sclerosis Human Phenotype Ontology C4551853 HP:0003034 16 Feb 2016 Finding Diaphyseal sclerosis of the upper limbs Human Phenotype Ontology C4025547 HP:0003860 16 Feb 2016 Finding Diaphyseal thickening Human Phenotype Ontology C1835473 HP:0005019 16 Feb 2016 Finding Diarrhea Human Phenotype Ontology C0011991 HP:0002014 16 Feb 2016 Finding DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE OMIM C4748579 618183 618183 15 Nov 2018 Disease DIARRHEA 11, MALABSORPTIVE, CONGENITAL OMIM C5231449 618662 618662 16 Nov 2019 Disease Diarrhea 3, secretory sodium, congenital, syndromic NCBI curation C2678346 16 Feb 2016 Disease Diarrhea 4, malabsorptive, congenital NCBI curation C1835888 610370 16 Feb 2016 Disease Diarrhea 5, with tufting enteropathy, congenital NCBI curation C2750737 613217 16 Feb 2016 Disease Diarrhea 6 NCBI curation C3553270 614616 16 Feb 2016 Disease Diarrhea 7 NCBI curation C4014516 615863 16 Feb 2016 Disease Diarrhea 8, secretory sodium, congenital NCBI curation CN515063 616868 08 Oct 2017 Disease DIARRHEA 9 OMIM C4748517 618168 618168 02 Nov 2018 Disease Diarrhea with Microvillus Atrophy CN239249 02 Dec 2016 Disease Diarrhea, chronic, with villous atrophy NCBI curation C1838912 520100 16 Feb 2016 Disease Diarrhea, glucose-stimulated secretory, with common variable immunodeficiency NCBI curation C1852087 125890 16 Feb 2016 Disease Diarrheal disease MONDO MONDO:0001673 17 Apr 2020 Disease Diarrheal disease secondary to altered bowel motility MONDO MONDO:0000251 17 Apr 2020 Disease Diarrheal disease secondary to decreased bowel motility MONDO MONDO:0044763 17 Apr 2020 Disease Diarrheal disease secondary to increased bowel motility MONDO MONDO:0044762 17 Apr 2020 Disease Diastasis recti Human Phenotype Ontology C0221766 HP:0001540 16 Feb 2016 Finding Diastasis recti and weakness of the linea alba NCBI curation C2677303 612198 16 Feb 2016 Disease Diastema Human Phenotype Ontology C0011998 HP:0000699 16 Feb 2016 Finding Diastema, dental medial NCBI curation C1852086 125900 16 Feb 2016 Disease Diastematomyelia C0011999 222500 16 Feb 2016 Disease Diastolic dysfunction C0520863 16 Feb 2016 Disease Diastolic heart failure MONDO C1135196 MONDO:0006727 17 Apr 2020 Disease Diastomatomyelia Human Phenotype Ontology C4022023 HP:0100563 16 Feb 2016 Finding Diastrophic dysplasia C0220726 222600 16 Feb 2016 Disease Diastrophic dysplasia, broad bone-platyspondylic variant NCBI curation C1857255 16 Feb 2016 Disease Diazepam response NCBI curation CN077977 16 Feb 2016 Pharmacological response Diazoxide-resistant diffuse hyperinsulinism MONDO CN261286 MONDO:0015625 17 Apr 2020 Disease Diazoxide-resistant focal hyperinsulinism MONDO MONDO:0019265 17 Apr 2020 Disease Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency MONDO C5191060 MONDO:0017188 17 Apr 2020 Disease Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency MONDO C5191059 MONDO:0017187 17 Apr 2020 Disease Diazoxide-resistant hyperinsulinism MONDO CN229082 MONDO:0017186 17 Apr 2020 Disease Diazoxide-sensitive diffuse hyperinsulinism MONDO CN261287 MONDO:0015624 17 Apr 2020 Disease Dibasic amino aciduria i NCBI curation C2673736 222690 16 Feb 2016 Disease Dibasic aminoaciduria 1 16 Feb 2016 Disease Dibasic aminoaciduria 2 16 Feb 2016 Disease Dibasicaminoaciduria Human Phenotype Ontology C4025643 HP:0003168 16 Feb 2016 Finding Dicarboxylic acidemia Human Phenotype Ontology C4022416 HP:0040145 16 Feb 2016 Finding Dicarboxylic aciduria Human Phenotype Ontology C1856432 HP:0003215 16 Feb 2016 Finding Dicarboxylic aminoaciduria C1857253 222730 16 Feb 2016 Disease DICER1-related pleuropulmonary blastoma cancer predisposition syndrome NCBI curation C3839822 601200 16 Feb 2016 Disease Dichromacy Human Phenotype Ontology C4023317 HP:0011518 16 Feb 2016 Finding Diclofenac response NCBI curation CN533581 16 Oct 2017 Pharmacological response diclofenac response - Toxicity/ADR PharmGKB CN236524 981238437 18 May 2016 Pharmacological response Dicrocoeliasis MONDO C0012102 MONDO:0005729 04 Jun 2020 Infectious disease Dictyocaulus infectious disease MONDO C0012118 MONDO:0005730 04 Jun 2020 Infectious disease Didymosis aplasticosebacea MONDO C4751600 MONDO:0018259 17 Apr 2020 Disease Die Smulders Droog Van Dijk syndrome 16 Feb 2016 Disease Die Smulders Vles Fryns syndrome 16 Feb 2016 Disease DIEGO BLOOD GROUP ANTIGEN 16 Feb 2016 Blood group Diencephalic astrocytomas MONDO C1333284 MONDO:0003169 17 Apr 2020 Disease Diencephalic cancer MONDO C1334576 MONDO:0002786 17 Apr 2020 Disease Diencephalic syndrome C0342436 16 Feb 2016 Disease Diencephalic-mesencephalic junction dysplasia MONDO C4707858 MONDO:0017868 17 Apr 2020 Disease Diencephalic-mesencephalic junction dysplasia syndrome OMIM phenotypic series CN279282 PS251280 29 Aug 2019 Disease Diencephalic-mesencephalic junction dysplasia syndrome 1 NCBI curation C4538630 251280 21 Dec 2019 Disease DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2 OMIM C5231440 618646 618646 01 Nov 2019 Disease Dientamoebiasis MONDO C0012147 MONDO:0024608 04 Jun 2020 Infectious disease Diet-resistant subcutaneous adipose tissue Human Phenotype Ontology C4476745 HP:0025384 04 Apr 2018 Finding Diet-resistant subcutaneous adipose tissue below waist Human Phenotype Ontology C4476746 HP:0025385 04 Apr 2018 Finding Dieterich disease MONDO C2931124 MONDO:0022983 17 Apr 2020 Disease Diethylstilbestrol antenatal infection 16 Feb 2016 Disease Diethylstilbestrol syndrome MONDO C0853695 MONDO:0016012 17 Apr 2020 Disease DIETS-JONGMANS SYNDROME OMIM CN272931 618846 618846 16 Apr 2020 Disease Dieulafoy lesion MONDO C0341217 MONDO:0001427 17 Apr 2020 Disease Differentiating neuroblastoma MONDO C1511934 MONDO:0002899 17 Apr 2020 Disease Difficulty adjusting from dark to light Human Phenotype Ontology C4072996 HP:0030514 16 Feb 2016 Finding Difficulty adjusting from light to dark Human Phenotype Ontology C4072995 HP:0030513 16 Feb 2016 Finding Difficulty adjusting to changes in luminance Human Phenotype Ontology C4072994 HP:0030512 16 Feb 2016 Finding Difficulty climbing stairs Human Phenotype Ontology C0239067 HP:0003551 16 Feb 2016 Finding Difficulty feeding related to heart CN235266 19 Feb 2016 Finding difficulty in lifting chest 13 Feb 2020 Finding Difficulty in tongue movements Human Phenotype Ontology C1853406 HP:0000183 16 Feb 2016 Finding Difficulty running Human Phenotype Ontology C0560346 HP:0009046 16 Feb 2016 Finding Difficulty standing Human Phenotype Ontology C0241237 HP:0003698 16 Feb 2016 Finding Difficulty walking Human Phenotype Ontology C0311394 HP:0002355 16 Feb 2016 Finding Diffuse alopecia areata MONDO C0263479 MONDO:0000687 17 Apr 2020 Disease Diffuse alveolar hemorrhage Human Phenotype Ontology C4476767 HP:0025420 04 Apr 2018 Finding Diffuse arterial stenosis 25 Oct 2017 Finding Diffuse astrocytoma NCBI curation C0280785 15 Mar 2019 Disease Diffuse axonal swelling Human Phenotype Ontology C1865417 HP:0003405 16 Feb 2016 Finding Diffuse bilateral white matter T2 hyperintensity 23 Jan 2020 Finding Diffuse cavernous hemangioma of the rectum 16 Feb 2016 Disease Diffuse cerebellar atrophy Human Phenotype Ontology C1854699 HP:0100275 16 Feb 2016 Finding Diffuse cerebral atrophy Human Phenotype Ontology C0598275 HP:0002506 16 Feb 2016 Finding Diffuse cerebral calcification Human Phenotype Ontology C4025125 HP:0005849 16 Feb 2016 Finding Diffuse cutaneous mucinosis MONDO C0406655 MONDO:0021654 17 Apr 2020 Disease Diffuse cutaneous systemic sclerosis MONDO C1258104 MONDO:0016356 17 Apr 2020 Disease Diffuse demyelination of the cerebral white matter Human Phenotype Ontology C4024930 HP:0007162 16 Feb 2016 Finding Diffuse gastric adenocarcinoma MONDO C0279635 MONDO:0005017 17 Apr 2020 Disease Diffuse Gastric Cancer Syndrome CN879741 21 Mar 2018 Disease Diffuse glomerular basement membrane lamellation Human Phenotype Ontology C3278307 HP:0030034 16 Feb 2016 Finding Diffuse glomerulonephritis MONDO C0859036 MONDO:0003137 17 Apr 2020 Disease Diffuse hepatic steatosis Human Phenotype Ontology C1849686 HP:0006555 16 Feb 2016 Finding diffuse hypotonia 13 Feb 2020 Finding Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia MONDO C1333291 MONDO:0022986 17 Apr 2020 Disease Diffuse infiltrative lymphocytosis syndrome MONDO C1333292 MONDO:0003963 17 Apr 2020 Disease Diffuse interstitial keratitis MONDO C0155089 MONDO:0001694 17 Apr 2020 Disease Diffuse interstitial pulmonary fibrosis C0085786 23 Aug 2019 Disease Diffuse intraductal papillomatosis MONDO C1377912 MONDO:0004226 17 Apr 2020 Disease Diffuse intrinsic pontine glioma NCBI curation C2986658 29 Dec 2018 Disease Diffuse large B-cell lymphoma with chronic inflammation MONDO CN229096 MONDO:0017601 17 Apr 2020 Disease Diffuse leiomyomatosis Human Phenotype Ontology C4024984 HP:0006756 16 Feb 2016 Finding Diffuse leptomeningeal melanocytosis MONDO C4749348 MONDO:0016745 17 Apr 2020 Disease Diffuse leukoencephalopathy Human Phenotype Ontology C1868514 HP:0006994 16 Feb 2016 Finding Diffuse Lewy body disease with gaze palsy NCBI curation 16 Feb 2016 Disease Diffuse lipomatosis MONDO C1333298 MONDO:0006539 17 Apr 2020 Disease Diffuse menangial sclerosis NCBI curation C0268747 09 May 2020 Finding Diffuse meningeal melanocytosis MONDO C1266112 MONDO:0003867 17 Apr 2020 Disease diffuse motor neuropathy 13 Feb 2020 Finding Diffuse neonatal hemangiomatosis C0474965 16 Feb 2016 Disease Diffuse nuclear cataract Human Phenotype Ontology C4024821 HP:0007657 16 Feb 2016 Finding Diffuse optic disc pallor Human Phenotype Ontology C4022870 HP:0012512 16 Feb 2016 Finding Diffuse palmoplantar hyperkeratosis Human Phenotype Ontology C4021575 HP:0007447 16 Feb 2016 Finding Diffuse palmoplantar keratoderma Human Phenotype Ontology C0022584 HP:0007435 16 Feb 2016 Finding Diffuse palmoplantar keratoderma - acrocyanosis syndrome MONDO CN206272 MONDO:0019489 17 Apr 2020 Disease Diffuse palmoplantar keratoderma with painful fissures MONDO C4755309 MONDO:0018250 17 Apr 2020 Disease Diffuse panbronchiolitis C0878555 604809 16 Feb 2016 Disease Diffuse pancreatic islet hyperplasia Human Phenotype Ontology C4531265 HP:0031224 04 Apr 2018 Finding Diffuse peripheral demyelination Human Phenotype Ontology C4024971 HP:0006881 16 Feb 2016 Finding Diffuse pulmonary fibrosis MONDO C0865849 MONDO:0003563 17 Apr 2020 Disease Diffuse reduction in contractility 12 Sep 2019 Finding Diffuse reticular or finely nodular infiltrations Human Phenotype Ontology C1843428 HP:0002207 16 Feb 2016 Finding Diffuse scleroderma 16 Feb 2016 Disease Diffuse secondary choroid atrophy MONDO C0154892 MONDO:0004886 17 Apr 2020 Disease Diffuse skin atrophy Human Phenotype Ontology C4024863 HP:0007488 16 Feb 2016 Finding Diffuse slow skin atrophy Human Phenotype Ontology C4024860 HP:0007504 16 Feb 2016 Finding Diffuse spongiform leukoencephalopathy Human Phenotype Ontology C1858857 HP:0006943 16 Feb 2016 Finding Diffuse swelling of cerebral white matter Human Phenotype Ontology C1858855 HP:0007341 16 Feb 2016 Finding Diffuse telangiectasia Human Phenotype Ontology C1265776 HP:0007489 16 Feb 2016 Finding Diffuse type adenocarcinoma MONDO C0334280 MONDO:0021652 17 Apr 2020 Disease Diffuse white matter abnormalities Human Phenotype Ontology C4024923 HP:0007204 16 Feb 2016 Finding Diffusely decrease choline in white matter 27 Apr 2018 Finding DiGeorge sequence NCBI curation C0012236 188400 16 Feb 2016 Disease DiGeorge syndrome/velocardiofacial syndrome complex 2 NCBI curation C1832431 601362 16 Feb 2016 Disease Digestive duplication CN266036 16 Feb 2016 Disease Digestive duplication cyst of the tongue MONDO CN226668 MONDO:0015384 17 Apr 2020 Disease Digestive system adenoma MONDO C0948101 MONDO:0006180 17 Apr 2020 Disease Digestive system cancer MONDO MONDO:0002516 17 Apr 2020 Disease Digestive system infectious disease MONDO CN281894 MONDO:0043424 04 Jun 2020 Infectious disease Digestive system melanoma MONDO C1333798 MONDO:0045070 17 Apr 2020 Disease Digestive system mixed adenoneuroendocrine carcinoma MONDO C2987129 MONDO:0006182 17 Apr 2020 Disease Digestive system neoplasm MONDO MONDO:0021223 17 Apr 2020 Disease Digestive system neuroendocrine neoplasm MONDO C1333799 MONDO:0024503 17 Apr 2020 Disease Digestive system neuroendocrine tumor, grade 1/2 MONDO MONDO:0000386 17 Apr 2020 Disease Digestive tract malformation MONDO CN227730 MONDO:0020019 17 Apr 2020 Disease digit anomalies 05 Sep 2019 Finding Digital anomalies-intellectual disability-short stature syndrome MONDO CN204494 MONDO:0018122 17 Apr 2020 Disease Digital Arthropathy-Brachydactyly CN230081 16 Feb 2016 Disease Digital arthropathy-brachydactyly, familial NCBI curation C1847406 606835 16 Feb 2016 Disease Digital clubbing, isolated congenital NCBI curation C0345408 119900 16 Feb 2016 Disease Digital constriction ring Human Phenotype Ontology C4021261 HP:0010491 16 Feb 2016 Finding Digital dermatitis in cattle MONDO CN281884 MONDO:0025030 04 Jun 2020 Infectious disease Digital flexor tenosynovitis Human Phenotype Ontology C0158328 HP:0012276 16 Feb 2016 Finding Digital papillary eccrine carcinoma MONDO C1367789 MONDO:0044789 17 Apr 2020 Disease Digital pitting scar Human Phenotype Ontology C3854542 HP:0031293 04 Apr 2018 Finding Digitalis poisoning MONDO MONDO:0017863 17 Apr 2020 Disease Digitotalar dysmorphism NCBI curation C1852085 126050 05 Nov 2018 Disease digoxin response - Other PharmGKB CN236525 981204372 18 May 2016 Pharmacological response Dihydropteridine reductase deficiency C0268465 261630 16 Feb 2016 Disease Dihydropyrimidinase deficiency C0342803 222748 16 Feb 2016 Disease Dihydropyrimidine dehydrogenase deficiency NCBI curation C1959620 274270 16 Feb 2016 Disease Dilatated internal auditory canal Human Phenotype Ontology C2676973 HP:0004458 16 Feb 2016 Finding Dilatation Human Phenotype Ontology C0002940 HP:0002617 04 Apr 2018 Finding Dilatation of abdominal aorta Human Phenotype Ontology CN211280 HP:0004953 04 Apr 2018 Finding Dilatation of an abdominal artery Human Phenotype Ontology C4476532 HP:0002636 04 Apr 2018 Finding Dilatation of ascending aorta Human Phenotype Ontology C0856747 HP:0002631 04 Apr 2018 Finding Dilatation of celiac artery Human Phenotype Ontology C4477059 HP:0100858 04 Apr 2018 Finding Dilatation of Inferior mesenteric artery Human Phenotype Ontology C4477061 HP:0100860 04 Apr 2018 Finding Dilatation of large choroidal vessels Human Phenotype Ontology C4476892 HP:0030979 04 Apr 2018 Finding Dilatation of mesenteric artery Human Phenotype Ontology C4476552 HP:0011934 04 Apr 2018 Finding Dilatation of renal calices Human Phenotype Ontology C1269700 HP:0100581 02 Apr 2017 Finding Dilatation of superior mesenteric artery Human Phenotype Ontology C4477060 HP:0100859 04 Apr 2018 Finding Dilatation of the abdominal aorta Human Phenotype Ontology C0162871 HP:0005112 16 Feb 2016 Finding Dilatation of the aorta 08 Feb 2020 Finding Dilatation of the aortic arch Human Phenotype Ontology C0856748 HP:0005113 16 Feb 2016 Finding Dilatation of the ascending aorta Human Phenotype Ontology CN211363 HP:0005111 16 Feb 2016 Finding Dilatation of the bladder Human Phenotype Ontology C0549253 HP:0010955 16 Feb 2016 Finding Dilatation of the cerebral artery Human Phenotype Ontology C4476540 HP:0004944 04 Apr 2018 Finding Dilatation of the ductus arteriosus Human Phenotype Ontology C4476844 HP:0030745 04 Apr 2018 Finding Dilatation of the fusiform descending thoracic aorta Human Phenotype Ontology C4022753 HP:0012728 04 Apr 2018 Finding Dilatation of the mitral annulus Human Phenotype Ontology C4521440 HP:0031479 04 Apr 2018 Finding Dilatation of the renal pelvis Human Phenotype Ontology C1868864 HP:0010946 16 Feb 2016 Finding Dilatation of the saccular descending thoracic aortic Human Phenotype Ontology C4022752 HP:0012729 04 Apr 2018 Finding Dilatation of the sinus of Valsalva Human Phenotype Ontology C4476551 HP:0011645 04 Apr 2018 Finding Dilatation of the thoracic aorta Human Phenotype Ontology C0162872 HP:0012727 04 Apr 2018 Finding Dilatation of the tricuspid annulus Human Phenotype Ontology C4531114 HP:0031444 04 Apr 2018 Finding Dilatation of the ventricular cavity Human Phenotype Ontology C4476545 HP:0006698 04 Apr 2018 Finding Dilated aortic root C1842881 19 Feb 2016 Finding Dilated cardiomyopathy NCBI curation CN235865 03 May 2018 Disease Dilated cardiomyopathy 1A NCBI curation C1449563 115200 16 Feb 2016 Disease Dilated cardiomyopathy 1AA NCBI curation C2677338 C2677338 612158 16 Feb 2016 Disease Dilated cardiomyopathy 1B NCBI curation C1868673 600884 16 Feb 2016 Disease Dilated cardiomyopathy 1BB NCBI curation C2752072 CN035480 612877 16 Feb 2016 Disease Dilated cardiomyopathy 1C NCBI curation C1832244 C1832244 601493 16 Feb 2016 Disease Dilated cardiomyopathy 1CC NCBI curation C2751084 CN035660 613122 16 Feb 2016 Disease Dilated cardiomyopathy 1DD NCBI curation C2750995 CN035446 613172 16 Feb 2016 Disease Dilated cardiomyopathy 1E NCBI curation C1832680 601154 26 May 2016 Disease Dilated cardiomyopathy 1EE NCBI curation C2750466 CN035481 613252 16 Feb 2016 Disease Dilated cardiomyopathy 1FF NCBI curation C2750091 CN035661 613286 16 Feb 2016 Disease Dilated cardiomyopathy 1G NCBI curation C1858763 C1858763 604145 16 Feb 2016 Disease Dilated cardiomyopathy 1GG NCBI curation C3150898 613642 16 Feb 2016 Disease Dilated cardiomyopathy 1H NCBI curation C1858591 C1858591 604288 16 Feb 2016 Disease Dilated cardiomyopathy 1HH NCBI curation C3151293 613881 16 Feb 2016 Disease Dilated cardiomyopathy 1I NCBI curation C1858154 C1858154 604765 16 Feb 2016 Disease Dilated cardiomyopathy 1II NCBI curation C3554649 615184 16 Feb 2016 Disease Dilated cardiomyopathy 1J NCBI curation C1854368 C1854368 605362 16 Feb 2016 Disease Dilated cardiomyopathy 1JJ NCBI curation C3808935 615235 16 Feb 2016 Disease Dilated cardiomyopathy 1K NCBI curation C1854159 C1854159 605582 16 Feb 2016 Disease Dilated cardiomyopathy 1KK NCBI curation C3714995 615248 16 Feb 2016 Disease Dilated cardiomyopathy 1L NCBI curation C1847667 C1847667 606685 16 Feb 2016 Disease Dilated cardiomyopathy 1LL NCBI curation C3809289 16 Feb 2016 Disease Dilated cardiomyopathy 1M NCBI curation C1843808 C1843808 607482 16 Feb 2016 Disease Dilated cardiomyopathy 1N NCBI curation C4225408 C1843791 607487 16 Feb 2016 Disease Dilated cardiomyopathy 1O NCBI curation C1837839 C1837839 608569 16 Feb 2016 Disease Dilated cardiomyopathy 1P NCBI curation C1835928 C1835928 609909 16 Feb 2016 Disease Dilated cardiomyopathy 1Q NCBI curation C1835926 C1835926 609915 16 Feb 2016 Disease Dilated cardiomyopathy 1R NCBI curation C3150681 CN035482 613424 16 Feb 2016 Disease Dilated cardiomyopathy 1S NCBI curation C1834481 CN035445 613426 16 Feb 2016 Disease Dilated cardiomyopathy 1T NCBI curation C3151039 16 Feb 2016 Disease Dilated cardiomyopathy 1V NCBI curation C3150958 613697 16 Feb 2016 Disease Dilated cardiomyopathy 1W NCBI curation C1969639 C1969639 611407 16 Feb 2016 Disease Dilated cardiomyopathy 1X NCBI curation C1969024 C1969024 611615 16 Feb 2016 Disease Dilated cardiomyopathy 1Y NCBI curation C2678476 C2678476 611878 16 Feb 2016 Disease Dilated cardiomyopathy 1Z NCBI curation C2678475 C2678475 611879 16 Feb 2016 Disease Dilated cardiomyopathy 2A NCBI curation C2678474 C2678474 611880 16 Feb 2016 Disease Dilated cardiomyopathy 3B NCBI curation C3668940 302045 16 Feb 2016 Disease Dilated cardiomyopathy with left ventricular noncompaction NCBI curation C1853863 16 Feb 2016 Disease Dilated cardiomyopathy with woolly hair and keratoderma NCBI curation C1854063 605676 03 May 2018 Disease Dilated Cardiomyopathy, Dominant CN239310 02 Dec 2016 Disease Dilated Cardiomyopathy, Recessive CN239222 02 Dec 2016 Disease Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Orphanet C0796031 ORPHA2229 212112 25 May 2017 Disease Dilated fourth ventricle Human Phenotype Ontology C1847117 HP:0002198 16 Feb 2016 Finding Dilated left atrium 30 Mar 2018 Finding Dilated left subclavian artery Human Phenotype Ontology C4531247 HP:0031252 04 Apr 2018 Finding Dilated left ventricle NCBI curation C0745674 12 Sep 2018 Disease Dilated superficial abdominal veins Human Phenotype Ontology C4021050 HP:0030168 16 Feb 2016 Finding Dilated third ventricle Human Phenotype Ontology C4024941 HP:0007082 16 Feb 2016 Finding Dilated vestibule of the inner ear Human Phenotype Ontology C4023387 HP:0011379 16 Feb 2016 Finding Dilation of lateral ventricles Human Phenotype Ontology C1856409 HP:0006956 16 Feb 2016 Finding Dilation of left frontal horn 22 Jun 2020 Finding Dilution, pigmentary NCBI curation C1876214 126070 16 Feb 2016 Disease Dimethylglycine dehydrogenase deficiency NCBI curation C1853892 605850 16 Feb 2016 Disease Diminished ability to concentrate 10 Jan 2020 Finding Diminished motivation Human Phenotype Ontology C0456814 HP:0000745 16 Feb 2016 Finding Diminished movement Human Phenotype Ontology C4025710 HP:0002374 16 Feb 2016 Finding Dimple chin Human Phenotype Ontology C4317152 HP:0010751 04 Apr 2018 Finding Dimple on nasal tip Human Phenotype Ontology C1863349 HP:0004132 16 Feb 2016 Finding Dimples, facial NCBI curation C1852076 126100 16 Feb 2016 Disease Dioctophymiasis MONDO C0012482 MONDO:0000298 04 Jun 2020 Infectious disease Diomedi Bernardi Placidi syndrome 16 Feb 2016 Disease Dionisi Vici Sabetta Gambarara syndrome 16 Feb 2016 Disease Dipetalonemiasis MONDO C0012517 MONDO:0005731 17 Apr 2020 Infectious disease Diphallus rachischisis imperforate anus 16 Feb 2016 Disease Diphenylhydantoin, defect in hydroxylation of NCBI curation 16 Feb 2016 Disease Diphosphoglycerate mutase deficiency of erythrocyte 16 Feb 2016 Disease Diphtheria C0012546 16 Feb 2016 Infectious disease Diphtheritic cystitis MONDO C0152954 MONDO:0001681 17 Apr 2020 Disease Diphtheritic myocarditis MONDO C0152952 MONDO:0041259 04 Jun 2020 Infectious disease Diphtheritic peritonitis MONDO C0152953 MONDO:0001682 17 Apr 2020 Disease Diphyllobothriasis MONDO C0012561 MONDO:0015260 04 Jun 2020 Infectious disease diplegia of lower limbs C0919982 18 Jan 2019 Finding Diplegia of upper limb MONDO C0154701 MONDO:0004618 17 Apr 2020 Disease diplegic cerebral palsy 05 Sep 2019 Disease Diploid-triploid mosaicism MONDO C2932665 MONDO:0022991 16 Feb 2016 Disease Diplomyelia Human Phenotype Ontology C1260890 HP:0100562 16 Feb 2016 Finding Diplopia Human Phenotype Ontology C0012569 HP:0000651 16 Feb 2016 Finding Diprosopia 16 Feb 2016 Disease Diprosopus MONDO C0266731 MONDO:0015672 17 Apr 2020 Disease Dipsogenic diabetes insipidus C0268813 16 Feb 2016 Disease Dirofilariasis MONDO C0012602 MONDO:0015636 04 Jun 2020 Infectious disease Disc-like vertebral bodies Human Phenotype Ontology C1835444 HP:0004591 16 Feb 2016 Finding Discharging ear MONDO MONDO:0000988 17 Apr 2020 Disease Disciform macular scar Human Phenotype Ontology C4476587 HP:0025094 02 Apr 2017 Finding Discitis MONDO C0012624 MONDO:0006728 17 Apr 2020 Disease Discoid lupus erythematosus of eyelid MONDO C0155180 MONDO:0004706 17 Apr 2020 Disease Discoid lupus rash Human Phenotype Ontology C0024138 HP:0007417 02 Apr 2017 Finding Discolored lateral incisors Human Phenotype Ontology C1866510 HP:0006290 16 Feb 2016 Finding Discontinuous ascending root of helix Human Phenotype Ontology C4021176 HP:0011264 16 Feb 2016 Finding Discordant atrioventricular connection Human Phenotype Ontology C0344615 HP:0011553 16 Feb 2016 Finding Discrete 2 to 5-mm hyper- and hypopigmented macules Human Phenotype Ontology C1851552 HP:0007494 16 Feb 2016 Finding Discrete fibromuscular subaortic stenosis MONDO CN207274 MONDO:0020393 17 Apr 2020 Disease Discrete fixed membranous subaortic stenosis MONDO CN207273 MONDO:0020392 17 Apr 2020 Disease Discrete intestinal polyps Human Phenotype Ontology C4025229 HP:0005238 16 Feb 2016 Finding Discrete motor delay CN232694 16 Feb 2016 Finding Discrete motor development delay CN232692 16 Feb 2016 Finding Discrete papular lichen myxedematosus MONDO C4273967 MONDO:0019579 17 Apr 2020 Disease Discrete subaortic stenosis MONDO C0012628 MONDO:0006729 17 Apr 2020 Disease Discrimination, two-point, reduction in NCBI curation C1852074 126180 16 Feb 2016 Disease Disease NCBI curation C0012634 02 Mar 2017 Disease Disease associated with non-acquired combined pituitary hormone deficiency MONDO CN206775 MONDO:0019827 17 Apr 2020 Disease Disease Association NOS CN239215 02 Dec 2016 Disease Disease by anatomical system MONDO C1285159 MONDO:0021199 17 Apr 2020 Disease Disease by cell type MONDO MONDO:0044979 17 Apr 2020 Disease Disease by cellular component affected MONDO MONDO:0021197 17 Apr 2020 Disease Disease by cellular process disrupted MONDO MONDO:0021195 17 Apr 2020 Disease Disease by molecular activity disrupted MONDO MONDO:0021196 17 Apr 2020 Disease Disease by subcellular system affected MONDO MONDO:0021194 17 Apr 2020 Disease Disease characteristic MONDO MONDO:0021125 17 Apr 2020 Disease Disease of bone structure MONDO MONDO:0000836 17 Apr 2020 Disease Disease of catalytic activity MONDO C0520572 MONDO:0044976 17 Apr 2020 Disease Disease of cell nucleus MONDO MONDO:0044978 17 Apr 2020 Disease Disease of central nervous system or retinal vasculature MONDO MONDO:0020676 17 Apr 2020 Disease Disease of ear MONDO C0013447 MONDO:0021205 17 Apr 2020 Disease Disease of extraembryonic membrane MONDO C3662139 MONDO:0045013 17 Apr 2020 Disease Disease of facial skeleton MONDO MONDO:0023369 17 Apr 2020 Disease Disease of genitourinary system MONDO C0080276 MONDO:0021145 17 Apr 2020 Disease Disease of glomerular basement membrane MONDO MONDO:0019723 17 Apr 2020 Disease Disease of macromolecular complex MONDO MONDO:0044971 17 Apr 2020 Disease Disease of membrane bound organelle MONDO MONDO:0044969 17 Apr 2020 Disease Disease of neck of urinary bladder MONDO MONDO:0041154 17 Apr 2020 Disease Disease of orbital part of eye adnexa MONDO C0029182 MONDO:0004751 17 Apr 2020 Disease Disease of orbital region MONDO MONDO:0002022 17 Apr 2020 Disease Disease of peritoneum MONDO C0031142 MONDO:0020591 17 Apr 2020 Disease Disease of pharynx MONDO MONDO:0020592 17 Apr 2020 Disease Disease of pilosebaceous unit MONDO MONDO:0002917 17 Apr 2020 Disease Disease of receptor activity MONDO MONDO:0044977 17 Apr 2020 Disease Disease of retroperitoneum MONDO MONDO:0020595 17 Apr 2020 Disease Disease of signal transduction MONDO MONDO:0044980 17 Apr 2020 Disease Disease of supramolecular complex MONDO MONDO:0044974 17 Apr 2020 Disease Disease of transporter activity MONDO MONDO:0044975 17 Apr 2020 Disease Disease of uterine broad ligament MONDO C0404479 MONDO:0045043 17 Apr 2020 Disease Disease of visual system MONDO MONDO:0024458 17 Apr 2020 Disease Disease predisposing to age-related macular degeneration MONDO MONDO:0020245 17 Apr 2020 Disease Disease susceptibility MONDO MONDO:0042489 17 Apr 2020 Disease Disease with Cushing syndrome as a major feature MONDO CN203791 MONDO:0017820 17 Apr 2020 Disease Disease with diffuse palmoplantar keratoderma as a major feature MONDO CN203554 MONDO:0017669 17 Apr 2020 Disease Disease with focal palmoplantar keratoderma as a major feature MONDO CN203558 MONDO:0017674 17 Apr 2020 Disease Disease with potential neoplastic degeneration associated with ocular features MONDO MONDO:0020273 17 Apr 2020 Disease Disease with punctate palmoplantar keratoderma as a major feature MONDO CN203565 MONDO:0017678 17 Apr 2020 Disease disease-free survival CN186048 16 Feb 2016 Finding diseases of blood and blood forming organs 14 Mar 2019 Finding diseases of pancreas 14 Mar 2019 Finding diseases of the circulatory system 05 Sep 2019 Finding diseases of the pancreas 14 Mar 2019 Finding Disharmonious carpal bone Human Phenotype Ontology C2675549 HP:0006153 16 Feb 2016 Finding Disinhibition Human Phenotype Ontology C0424296 HP:0000734 16 Feb 2016 Finding Dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation NCBI curation C1864183 603133 16 Feb 2016 Disease Dislocated radial head Human Phenotype Ontology C0265563 HP:0003083 16 Feb 2016 Finding Dislocated wrist Human Phenotype Ontology C0159941 HP:0003994 16 Feb 2016 Finding Dislocation of ear ossicle MONDO MONDO:0001199 17 Apr 2020 Disease Dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism NCBI curation C1832353 601450 16 Feb 2016 Disease Dislocation of the femoral head Human Phenotype Ontology C1859446 HP:0008826 16 Feb 2016 Finding Dislocation of toes Human Phenotype Ontology C0434717 HP:0008141 16 Feb 2016 Finding Disorder by anatomical region MONDO C1290853 MONDO:0024505 17 Apr 2020 Disease Disorder due cytochrome p450 CYP1A2 NCBI curation CN181571 16 Feb 2016 Pharmacological response Disorder due cytochrome p450 CYP2C19 variant NCBI curation CN158544 16 Feb 2016 Pharmacological response Disorder due cytochrome p450 CYP2C9 variant NCBI curation CN158543 16 Feb 2016 Pharmacological response Disorder due cytochrome p450 CYP2D6 variant NCBI curation C1837154 608902 16 Feb 2016 Pharmacological response Disorder due cytochrome p450 CYP3A4 NCBI curation CN181501 16 Feb 2016 Pharmacological response Disorder due cytochrome p450 CYP3A5 variant NCBI curation CN181500 16 Feb 2016 Pharmacological response disorder fine motor delay 05 Sep 2019 Finding Disorder involving pain MONDO C1300028 MONDO:0021668 17 Apr 2020 Disease Disorder of acid-base balance MONDO C0268029 MONDO:0041261 17 Apr 2020 Disease Disorder of amino acid metabolism NCBI curation C0002514 CDC MMWR 16 Feb 2016 Disease Disorder of appendix MONDO C0267613 MONDO:0056798 17 Apr 2020 Disease Disorder of asparagine metabolism MONDO CN227320 MONDO:0018318 17 Apr 2020 Disease disorder of autonomic nervous system 05 Sep 2019 Disease Disorder of beta and omega amino acid metabolism MONDO C0342707 MONDO:0017684 17 Apr 2020 Disease Disorder of bile acid synthesis Orphanet CN231736 ORPHA79168 16 Feb 2016 Disease disorder of calcium metabolism C0006705 20 Jun 2019 Finding Disorder of carbohydrate absorption and transport MONDO CN227180 MONDO:0017706 17 Apr 2020 Disease Disorder of carbohydrate metabolism Orphanet C0149670 ORPHA79161 16 Feb 2016 Disease Disorder of cardiovascular system NCBI curation C0007222 16 Feb 2016 Disease Disorder of carnitine cycle and carnitine transport MONDO CN227184 MONDO:0017716 17 Apr 2020 Disease Disorder of catecholamine synthesis MONDO C0342685 MONDO:0017759 17 Apr 2020 Disease Disorder of copper metabolism MONDO C0012714 MONDO:0017762 17 Apr 2020 Disease Disorder of development or morphogenesis MONDO MONDO:0021147 17 Apr 2020 Disease Disorder of endocrine system NCBI curation C0014130 16 Feb 2016 Disease Disorder of fatty acid metabolism NCBI curation C0268634 16 Feb 2016 Disease Disorder of fatty acid oxidation and ketogenesis MONDO CN227183 MONDO:0017713 17 Apr 2020 Disease Disorder of folate metabolism and transport MONDO CN227114 MONDO:0017313 17 Apr 2020 Disease Disorder of fructose metabolism MONDO C0342744 MONDO:0017689 17 Apr 2020 Disease Disorder of fucoglycosan synthesis MONDO CN227193 MONDO:0017747 17 Apr 2020 Disease Disorder of galactose metabolism MONDO C0342745 MONDO:0017690 17 Apr 2020 Disease Disorder of glutamine metabolism MONDO C0342669 MONDO:0017352 17 Apr 2020 Disease Disorder of glycolysis Orphanet CN924910 ORPHA308459 08 Apr 2018 Disease Disorder of glycosylation MONDO MONDO:0024322 17 Apr 2020 Disease Disorder of glyoxylate metabolism MONDO CN227177 MONDO:0017703 17 Apr 2020 Disease Disorder of GPI anchor biosynthesis MONDO MONDO:0024321 17 Apr 2020 Disease Disorder of iron metabolism and transport MONDO CN227206 MONDO:0017763 17 Apr 2020 Disease Disorder of isoleucine metabolism C1848793 275190 16 Feb 2016 Disease Disorder of ketone body transport MONDO CN237600 MONDO:0018579 17 Apr 2020 Disease Disorder of lacrimal gland MONDO C0235228 MONDO:0024625 17 Apr 2020 Disease Disorder of lipid absorption and transport MONDO CN227181 MONDO:0017709 17 Apr 2020 Disease Disorder of lung NCBI curation C0024115 16 Feb 2016 Disease Disorder of lysosomal-related organelles MONDO CN227186 MONDO:0017739 17 Apr 2020 Disease Disorder of magnesium transport MONDO CN227207 MONDO:0017765 17 Apr 2020 Disease disorder of manganese metabolism C0268089 18 Jan 2019 Finding Disorder of manganese transport MONDO CN227208 MONDO:0017766 17 Apr 2020 Disease Disorder of medulla oblongata MONDO CN197487 MONDO:0015141 17 Apr 2020 Disease Disorder of melanin metabolism MONDO CN227269 MONDO:0018134 17 Apr 2020 Disease Disorder of metabolite absorption and transport MONDO CN227202 MONDO:0017757 17 Apr 2020 Disease Disorder of mineral absorption and transport MONDO CN227205 MONDO:0017761 17 Apr 2020 Disease disorder of motor function 05 Sep 2019 Finding Disorder of multiple glycosylation MONDO CN227195 MONDO:0017749 17 Apr 2020 Disease disorder of nervous system 05 Sep 2019 Disease Disorder of neutral amino acid transport MONDO CN203583 MONDO:0017687 17 Apr 2020 Disease Disorder of O-mannosylglycan synthesis MONDO CN227192 MONDO:0017745 17 Apr 2020 Disease Disorder of O-N-acetylgalactosaminylglycan synthesis MONDO CN227190 MONDO:0017743 17 Apr 2020 Disease Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis MONDO CN227191 MONDO:0017744 17 Apr 2020 Disease Disorder of O-xylosylglycan synthesis MONDO CN227189 MONDO:0017742 17 Apr 2020 Disease Disorder of optic chiasm MONDO C0155307 MONDO:0003568 17 Apr 2020 Disease Disorder of organic acid metabolism NCBI curation C1263739 16 Feb 2016 Disease Disorder of other vitamins and cofactors metabolism and transport MONDO CN227204 MONDO:0017760 17 Apr 2020 Disease Disorder of peroxisomal alpha-, beta- and omega-oxidation MONDO CN227198 MONDO:0017753 17 Apr 2020 Disease Disorder of phenylalanine metabolism MONDO C0268461 MONDO:0017306 17 Apr 2020 Disease Disorder of phospholipids, sphingolipids and fatty acids biosynthesis MONDO CN227264 MONDO:0018117 17 Apr 2020 Disease Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement MONDO CN227265 MONDO:0018118 17 Apr 2020 Disease Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement MONDO CN227266 MONDO:0018119 17 Apr 2020 Disease Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement MONDO CN227267 MONDO:0018120 17 Apr 2020 Disease disorder of pigmentation 05 Sep 2019 Disease Disorder of placenta 16 Feb 2016 Disease Disorder of plasmalogens biosynthesis MONDO CN237437 MONDO:0017986 17 Apr 2020 Disease Disorder of protein N-glycosylation MONDO CN227187 MONDO:0017740 17 Apr 2020 Disease Disorder of protein O-glycosylation MONDO CN227188 MONDO:0017741 17 Apr 2020 Disease disorder of psychological development 05 Sep 2019 Finding disorder of psychological function 05 Sep 2019 Finding Disorder of pterin metabolism MONDO CN227201 MONDO:0017756 17 Apr 2020 Disease Disorder of sex development Orphanet C0036875 ORPHA90771 18 Jan 2020 Disease Disorder of sex development of gynecological interest MONDO CN227237 MONDO:0017976 17 Apr 2020 Disease Disorder of sex development-intellectual disability syndrome MONDO C1838611 MONDO:0010824 600122 17 Apr 2020 Disease Disorder of sialic acid metabolism MONDO C0342851 MONDO:0017736 17 Apr 2020 Disease disorder of social function 05 Sep 2019 Finding Disorder of speech development CN235222 19 Feb 2016 Finding Disorder of sphingolipid biosynthesis MONDO MONDO:0021130 17 Apr 2020 Disease disorder of the autonomic nervous system 05 Sep 2019 Finding disorder of the autonomic neuropathic system 05 Sep 2019 Finding Disorder of the urea cycle metabolism C0154246 16 Feb 2016 Disease Disorder of thiamine metabolism and transport MONDO CN227150 MONDO:0017578 17 Apr 2020 Disease Disorder of tyrosine metabolism MONDO C0268482 MONDO:0017307 17 Apr 2020 Disease Disorder of vitamin and non-protein cofactor absorption and transport MONDO CN227203 MONDO:0017758 17 Apr 2020 Disease Disorder of zinc metabolism MONDO C0268085 MONDO:0017764 17 Apr 2020 Disease Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency NCBI curation C2673964 613571 16 Feb 2016 Disease disorders affecting eyelid function 05 Sep 2019 Finding Disorders of biopterin regeneration CN244545 04 Apr 2018 Disease Disorders of both mitral and tricuspid valves C0348872 19 Feb 2016 Finding Disorders of Intracellular Cobalamin Metabolism CN043592 16 Feb 2016 Disease disorders of muscle 05 Sep 2019 Finding disorders of nervous system 05 Sep 2019 Finding Disorders of pentose/polyol metabolism MONDO CN237637 MONDO:0018605 17 Apr 2020 Disease Disorders of tubular ion transport CN580794 03 Nov 2017 Disease Disorders of vitamin D metabolism MONDO CN202954 MONDO:0017322 17 Apr 2020 Disease Disorganization of the anterior cerebellar vermis Human Phenotype Ontology C1845369 HP:0007065 16 Feb 2016 Finding Disorganization, mouse, homolog of NCBI curation C1857230 223200 16 Feb 2016 Disease Displacement of cardia through esophageal hiatus MONDO MONDO:0001562 17 Apr 2020 Disease Displacement of the external urethral meatus Human Phenotype Ontology C4020961 HP:0100627 16 Feb 2016 Finding Displacement of the papillary muscles Human Phenotype Ontology C4476783 HP:0025447 04 Apr 2018 Finding Disproportionate prominence of the femoral medial condyle Human Phenotype Ontology C1834392 HP:0006437 16 Feb 2016 Finding Disproportionate short stature Human Phenotype Ontology C0878659 HP:0003498 16 Feb 2016 Finding Disproportionate short stature with ptosis and valvular heart lesions NCBI curation C1852073 126190 16 Feb 2016 Disease Disproportionate short-limb short stature Human Phenotype Ontology C1849937 HP:0008873 16 Feb 2016 Finding Disproportionate short-trunk short stature Human Phenotype Ontology C1846435 HP:0003521 16 Feb 2016 Finding Disproportionate shortening of the tibia Human Phenotype Ontology C3806516 HP:0005766 16 Feb 2016 Finding Disproportionate tall stature Human Phenotype Ontology C1836996 HP:0001519 16 Feb 2016 Finding Disrupted sleep-wake cycle with developmental delay and learning difficulty CN295535 06 Jul 2017 Disease disruptive disorder 05 Sep 2019 Finding disruptive mood disorder 05 Sep 2019 Finding disruptive mood dysregulation disorder C4065471 18 Jan 2019 Finding Dissecting aortic dilatation Human Phenotype Ontology C0012736 HP:0002622 04 Apr 2018 Finding Dissection 05 Apr 2018 Finding Disseminated MONDO MONDO:0022202 17 Apr 2020 Disease Disseminated atypical mycobacterial infection C4011949 209950 16 Feb 2016 Disease Disseminated bronchiectasis NCBI curation CN169271 16 Feb 2016 Disease Disseminated candidiasis MONDO C0153252 MONDO:0042233 04 Jun 2020 Infectious disease Disseminated chorioretinitis MONDO C0154879 MONDO:0004657 17 Apr 2020 Disease Disseminated eosinophilic collagen disease MONDO C0263662 MONDO:0004803 17 Apr 2020 Disease Disseminated infection with mycobacterium avium complex 16 Feb 2016 Disease Disseminated intravascular coagulation Human Phenotype Ontology C0012739 HP:0005521 16 Feb 2016 Finding Disseminated intravascular coagulation in newborn MONDO C0158992 MONDO:0001242 17 Apr 2020 Disease disseminated intravascular coagulation. 13 Feb 2020 Finding Disseminated sclerosis with narcolepsy NCBI curation C1857229 223300 16 Feb 2016 Disease Disseminated sporotrichosis MONDO C0276725 MONDO:0042484 04 Jun 2020 Infectious disease Dissociated nystagmus MONDO C0155380 MONDO:0001655 17 Apr 2020 Disease Dissociated sensory loss Human Phenotype Ontology C0278136 HP:0010835 16 Feb 2016 Finding Dissociative amnesia MONDO MONDO:0001185 17 Apr 2020 Disease Dissociative disorder MONDO C0012746 MONDO:0001160 17 Apr 2020 Disease Dissociative hysteria 16 Feb 2016 Disease Distal 17p13.1 microdeletion syndrome MONDO C4749349 MONDO:0017867 17 Apr 2020 Disease Distal 17p13.3 microdeletion syndrome MONDO C4707092 MONDO:0016839 17 Apr 2020 Disease Distal 22q11.2 microduplication syndrome MONDO C4706942 MONDO:0016846 17 Apr 2020 Disease Distal 7q11.23 microduplication syndrome MONDO C4750782 MONDO:0016832 17 Apr 2020 Disease Distal acro-osteolyses 23 Jan 2020 Finding Distal Acroosteolysis CN233183 16 Feb 2016 Finding Distal amyotrophy Human Phenotype Ontology C1848736 HP:0003693 16 Feb 2016 Finding Distal arthrogryposis Human Phenotype Ontology C0265213 HP:0005684 16 Feb 2016 Disease Distal arthrogryposis Moore weaver type MONDO C2931342 MONDO:0022998 17 Apr 2020 Disease Distal arthrogryposis type 10 NCBI curation C1861238 187370 16 Feb 2016 Disease Distal arthrogryposis type 1A NCBI curation C0220662 108120 16 Sep 2018 Disease Distal arthrogryposis type 1B NCBI curation C3280526 614335 16 Feb 2016 Disease Distal arthrogryposis type 2B NCBI curation C5193014 601680 16 Feb 2016 Disease Distal arthrogryposis type 2E NCBI curation C1852597 121070 16 Feb 2016 Disease Distal arthrogryposis type 4 NCBI curation C1836756 609128 16 Feb 2016 Disease Distal arthrogryposis type 5D NCBI curation C3554415 615065 16 Sep 2018 Disease Distal biliary tract carcinoma MONDO C1333308 MONDO:0003707 17 Apr 2020 Disease Distal colitis MONDO C0860168 MONDO:0005533 17 Apr 2020 Disease distal congenital non-progressive spinal muscular atrophy 18 Aug 2017 Finding Distal femoral bowing Human Phenotype Ontology C1860107 HP:0005096 16 Feb 2016 Finding Distal femoral metaphyseal abnormality Human Phenotype Ontology C4022527 HP:0030299 16 Feb 2016 Finding Distal femoral metaphyseal irregularity Human Phenotype Ontology C4477052 HP:0045079 02 Apr 2017 Finding Distal foot symphalangism Human Phenotype Ontology C4025743 HP:0001859 02 Apr 2017 Finding Distal hereditary motor neuronopathy NCBI curation CN169884 16 Feb 2016 Disease Distal hereditary motor neuronopathy 2D NCBI curation C3888271 615575 16 Feb 2016 Disease Distal hereditary motor neuronopathy type 2A NCBI curation C1834692 158590 16 Feb 2016 Disease Distal hereditary motor neuronopathy type 2B NCBI curation C2608087 608634 16 Feb 2016 Disease Distal hereditary motor neuronopathy type 2C NCBI curation C3150619 613376 16 Feb 2016 Disease Distal hereditary motor neuronopathy type 5 NCBI curation C1833308 600794 16 Feb 2016 Disease Distal hereditary motor neuronopathy type 5B NCBI curation C3553656 614751 16 Feb 2016 Disease Distal hereditary motor neuronopathy type 7B NCBI curation C1843315 607641 16 Feb 2016 Disease Distal hereditary motor neuropathy 14 Feb 2020 Finding Distal hereditary motor neuropathy associated with upper motor neuron signs 14 Feb 2019 Disease Distal hereditary motor neuropathy type 7 MONDO C4749653 MONDO:0015355 17 Apr 2020 Disease Distal humeral metaphyseal irregularity Human Phenotype Ontology C4021703 HP:0003951 16 Feb 2016 Finding Distal ileal atresia Human Phenotype Ontology C3279409 HP:0200116 16 Feb 2016 Finding Distal lower limb amyotrophy Human Phenotype Ontology C1836451 HP:0008944 16 Feb 2016 Finding Distal lower limb muscle weakness Human Phenotype Ontology C1836450 HP:0009053 16 Feb 2016 Finding Distal monosomy 12p MONDO C4749581 MONDO:0017229 17 Apr 2020 Disease Distal monosomy 12q MONDO CN227713 MONDO:0019897 17 Apr 2020 Disease Distal monosomy 14q MONDO C4749276 MONDO:0019898 17 Apr 2020 Disease Distal monosomy 17q MONDO C4275171 MONDO:0015562 17 Apr 2020 Disease Distal monosomy 19p13.3 MONDO C4749277 MONDO:0019893 17 Apr 2020 Disease Distal monosomy 1q MONDO C4273897 MONDO:0018205 17 Apr 2020 Disease Distal monosomy 20q MONDO C5190838 MONDO:0019899 17 Apr 2020 Disease Distal monosomy 4q MONDO C5190514 MONDO:0019895 17 Apr 2020 Disease Distal monosomy 7p MONDO C5190515 MONDO:0019892 17 Apr 2020 Disease Distal monosomy 7q36 MONDO C4706504 MONDO:0015580 17 Apr 2020 Disease Distal monosomy 9p MONDO CN280649 MONDO:0015605 22 Apr 2020 Disease Distal muscle weakness Human Phenotype Ontology C0427065 HP:0002460 16 Feb 2016 Finding distal muscular hypotonia 11 Oct 2017 Finding Distal myopathy NCBI curation C0751336 16 Feb 2016 Disease Distal myopathy with rimmed vacuoles NCBI curation CN239822 617158 01 Jan 2017 Disease Distal myopathy with vocal cord weakness C1853723 16 Feb 2016 Disease Distal myopathy, Tateyama type NCBI curation C3280443 614321 16 Feb 2016 Disease Distal osteosclerosis NCBI curation C1852063 126250 16 Feb 2016 Disease Distal peripheral sensory neuropathy Human Phenotype Ontology C4021582 HP:0007067 16 Feb 2016 Finding Distal primary acidosis, familial 16 Feb 2016 Disease Distal radial epiphyseal osteolysis Human Phenotype Ontology C1850145 HP:0006449 16 Feb 2016 Finding Distal renal tubular acidosis Human Phenotype Ontology C1704380 HP:0008341 16 Feb 2016 Finding Distal Renal Tubular Acidosis, Dominant CN239155 02 Dec 2016 Disease Distal Renal Tubular Acidosis, Recessive CN239177 02 Dec 2016 Disease Distal sensory impairment Human Phenotype Ontology C1847584 HP:0002936 16 Feb 2016 Finding Distal sensory impairment of all modalities Human Phenotype Ontology C1836527 HP:0003409 16 Feb 2016 Finding Distal sensory loss of all modalities Human Phenotype Ontology C1837493 HP:0006984 16 Feb 2016 Finding Distal shortening of limbs Human Phenotype Ontology C1840307 HP:0006402 16 Feb 2016 Finding Distal spinal muscular atrophy NCBI curation C0393541 05 Nov 2016 Disease Distal spinal muscular atrophy, autosomal recessive 2 NCBI curation C1854023 605726 16 Feb 2016 Disease Distal spinal muscular atrophy, autosomal recessive 3 NCBI curation C1846823 607088 16 Feb 2016 Disease Distal spinal muscular atrophy, autosomal recessive 4 NCBI curation C1970211 611067 16 Feb 2016 Disease Distal spinal muscular atrophy, congenital nonprogressive NCBI curation C1838492 600175 16 Feb 2016 Disease Distal spinal muscular atrophy, X-linked 3 NCBI curation C1845359 300489 16 Feb 2016 Disease Distal symphalangism Human Phenotype Ontology C1843683 HP:0100263 16 Feb 2016 Finding Distal symphalangism of hands Human Phenotype Ontology C1862158 HP:0001204 02 Apr 2017 Finding Distal tapering femur Human Phenotype Ontology C4025049 HP:0006408 16 Feb 2016 Finding Distal tapering of metatarsals Human Phenotype Ontology C4024729 HP:0008133 16 Feb 2016 Finding Distal tibial bowing Human Phenotype Ontology C4021598 HP:0006414 16 Feb 2016 Finding Distal trisomy 10q MONDO C2931728 MONDO:0019884 17 Apr 2020 Disease Distal trisomy 11q MONDO C2931797 MONDO:0019885 17 Apr 2020 Disease Distal trisomy 13q MONDO C4706933 MONDO:0019886 17 Apr 2020 Disease Distal trisomy 14q MONDO CN036934 MONDO:0015726 17 Apr 2020 Disease Distal trisomy 15q MONDO C2931705 MONDO:0015728 17 Apr 2020 Disease Distal trisomy 16q MONDO C4706934 MONDO:0019887 17 Apr 2020 Disease Distal trisomy 17q MONDO C4707663 MONDO:0018069 17 Apr 2020 Disease Distal trisomy 18q MONDO C5190516 MONDO:0015741 17 Apr 2020 Disease Distal trisomy 19q MONDO C4707664 MONDO:0015744 17 Apr 2020 Disease Distal trisomy 1p36 NCBI curation C4707665 02 Jun 2017 Disease Distal trisomy 20q MONDO C4706935 MONDO:0019888 17 Apr 2020 Disease Distal trisomy 22q MONDO C4706936 MONDO:0019889 17 Apr 2020 Disease Distal trisomy 2p MONDO C4706937 MONDO:0019871 17 Apr 2020 Disease Distal trisomy 2q MONDO C4706361 MONDO:0019877 17 Apr 2020 Disease Distal trisomy 3p MONDO C4706938 MONDO:0019872 17 Apr 2020 Disease Distal trisomy 4q MONDO C4706362 MONDO:0019879 17 Apr 2020 Disease Distal trisomy 5q MONDO C4706363 MONDO:0019880 17 Apr 2020 Disease Distal trisomy 6p MONDO C4302551 MONDO:0015769 17 Apr 2020 Disease Distal trisomy 6q MONDO C0795817 MONDO:0019881 17 Apr 2020 Disease Distal trisomy 7p MONDO C4706364 MONDO:0019874 17 Apr 2020 Disease Distal trisomy 8q MONDO C4706365 MONDO:0019882 17 Apr 2020 Disease Distal trisomy 9q MONDO C4706939 MONDO:0019883 17 Apr 2020 Disease Distal ulnar epiphyseal stippling Human Phenotype Ontology C4021600 HP:0006370 16 Feb 2016 Finding Distal ulnar hypoplasia Human Phenotype Ontology C1833145 HP:0005033 16 Feb 2016 Finding Distal upper limb amyotrophy Human Phenotype Ontology C4021581 HP:0007149 16 Feb 2016 Finding Distal upper limb muscle hypertrophy Human Phenotype Ontology C4280685 HP:0040267 02 Apr 2017 Finding Distal upper limb muscle weakness Human Phenotype Ontology C3150620 HP:0008959 16 Feb 2016 Finding Distal urethral duplication Human Phenotype Ontology C4024634 HP:0008706 16 Feb 2016 Finding Distal widening of metacarpals Human Phenotype Ontology C1865254 HP:0006048 16 Feb 2016 Finding Distal Xq28 microduplication syndrome MONDO C4751127 MONDO:0017404 17 Apr 2020 Disease Distal/middle symphalangism of 2nd finger Human Phenotype Ontology C4021440 HP:0009563 16 Feb 2016 Finding Distal/middle symphalangism of 3rd finger Human Phenotype Ontology C4021477 HP:0009426 16 Feb 2016 Finding Distal/middle symphalangism of 4th finger Human Phenotype Ontology C4021495 HP:0009305 16 Feb 2016 Finding Distal/middle symphalangism of 5th finger Human Phenotype Ontology C1868573 HP:0009244 16 Feb 2016 Finding Distally placed thumb Human Phenotype Ontology C4024270 HP:0009622 16 Feb 2016 Finding Distichiasis Human Phenotype Ontology C0423848 HP:0009743 126300 16 Feb 2016 Disease Distichiasis heart congenital anomalies 16 Feb 2016 Disease Distichiasis with congenital anomalies of the heart and peripheral vasculature NCBI curation C1852062 126320 16 Feb 2016 Disease Distichiasis-lymphedema syndrome C0265345 153400 16 Feb 2016 Disease Distinct facial gestal CN231477 16 Feb 2016 Finding Distinctive facial features CN228801 16 Feb 2016 Finding Distomatosis CN281815 16 Feb 2016 Infectious disease Distributive shock Human Phenotype Ontology C2938913 HP:0031275 04 Apr 2018 Finding Disturbance of facial expression Human Phenotype Ontology C4025215 HP:0005324 16 Feb 2016 Finding disturbance of skin sensation 14 Mar 2019 Finding Disuse amblyopia MONDO C0152189 MONDO:0001022 17 Apr 2020 Disease diuretics response - Efficacy PharmGKB CN236526 1183631507 18 May 2016 Pharmacological response Divergence nystagmus Human Phenotype Ontology C4073130 HP:0030691 02 Apr 2017 Finding Diversion colitis MONDO C0267532 MONDO:0000707 17 Apr 2020 Disease Diverticulitis MONDO C0012813 MONDO:0004235 17 Apr 2020 Disease Diverticulitis of colon MONDO C0012814 MONDO:0001674 17 Apr 2020 Disease Diverticulosis of bowel, hernia, and retinal detachment NCBI curation C1857227 223330 16 Feb 2016 Disease Diverticulosis of trachea Human Phenotype Ontology C0340213 HP:0006509 16 Feb 2016 Finding Diverticulosis, small-intestinal NCBI curation C1857228 223320 16 Feb 2016 Disease Diverticulum of bladder C0156273 109820 16 Feb 2016 Disease Dizygotic twins NCBI curation C0220761 276400 16 Feb 2016 Disease Dizygotic twins - other twin with IUGR 22 Jun 2020 Finding Dld deficiency NCBI curation 16 Feb 2016 Disease DLD-Related Disorders CN239383 02 Dec 2016 Disease DLL3-Related Disorders 23 May 2019 Disease DNA ligase I deficiency NCBI curation C4016019 06 Mar 2016 Disease DNA repair defect other than combined T-cell and B-cell immunodeficiencies MONDO CN226730 MONDO:0015707 17 Apr 2020 Disease DNA repair disease MONDO MONDO:0021190 17 Apr 2020 Disease DNA topoisomerase I, camptothecin-resistant NCBI curation C4016020 06 Mar 2016 Disease Dna topoisomerase II, resistance to inhibition of, by amsacrine NCBI curation C4016021 31 Dec 2017 Disease DNA, low-repetitive sequences of NCBI curation C1852041 126390 16 Feb 2016 Finding DNA, satellite, 3 MONDO MONDO:0007466 17 Apr 2020 Disease DNMT1-Related Disorder 13 Oct 2017 Disease Dobrow syndrome 16 Feb 2016 Disease docetaxel response - Efficacy PharmGKB CN236527 655384573 18 May 2016 Pharmacological response Dog disease MONDO C0012979 MONDO:0024919 17 Apr 2020 Disease Dohle bodies and leukemia NCBI curation C1857225 223350 16 Feb 2016 Disease Dolichocephalic CN238733 19 Oct 2016 Finding Dolichocephaly Human Phenotype Ontology C0221358 HP:0000268 16 Feb 2016 Finding dolicocephalic head 16 May 2019 Finding Doll-like facies Human Phenotype Ontology C1856361 HP:0000295 16 Feb 2016 Finding Dolutegravir Response CN282549 17 Jun 2020 Pharmacological response Dombrock-null phenotype NCBI curation CN071509 16 Feb 2016 Disease Dominant cleft palate 16 Feb 2016 Disease Dominant congenital non-syndromic sensorineural hearing loss 28 Feb 2020 Disease Dominant congenital profound hearing loss 28 Feb 2020 Disease Dominant Dystrophic Epidermolysis Bullosa C0079136 16 Feb 2016 Disease Dominant dystrophic epidermolysis bullosa with absence of skin C0268371 132000 16 Feb 2016 Disease Dominant hereditary optic atrophy C0338508 165500 16 Feb 2016 Disease Dominant hypophosphatemia with nephrolithiasis or osteoporosis Orphanet CN201732 ORPHA244305 16 Feb 2016 Disease Dominant progressive sensorineural hearing loss 28 Feb 2020 Disease Donepezil Response CN282550 17 Jun 2020 Pharmacological response Donnai-Barrow syndrome MONDO C1857277 MONDO:0009104 222448 22 Apr 2020 Disease DOORS syndrome NCBI curation C0795934 220500 29 Mar 2019 Disease Dopa-responsive dystonia due to sepiapterin reductase deficiency NCBI curation C0268468 612716 29 Mar 2020 Disease Dopamine agonist response 15 Mar 2018 Pharmacological response Dopamine beta-hydroxylase activity, plasma NCBI curation 16 Feb 2016 Disease Dopamine beta-hydroxylase, plasma, thermolability of NCBI curation C1857198 223380 16 Feb 2016 Disease Dopamine receptor d2, reduced brain density of NCBI curation CN068531 16 Feb 2016 Disease DOPAMINE RECEPTOR D4 POLYMORPHISM 16 Feb 2016 Disease Dopaminergic neuroblastoma MONDO MONDO:0005598 17 Apr 2020 Disease Dorsal column degeneration Human Phenotype Ontology C4024953 HP:0007006 16 Feb 2016 Finding Dorsal subluxation of ulna Human Phenotype Ontology C1851988 HP:0006459 16 Feb 2016 Finding Dorsiflexion deformity of foot NCBI curation C0410766 13 Jun 2019 Finding Dorsocervical fat pad Human Phenotype Ontology C0520573 HP:0025383 04 Apr 2018 Finding Dot-and-blot retinal hemorrhage Human Phenotype Ontology C0474358 HP:0025242 02 Apr 2017 Finding Double aortic arch Human Phenotype Ontology C0265883 HP:0011590 16 Feb 2016 Finding Double discordia 16 Feb 2016 Disease Double eyebrow Human Phenotype Ontology C0431449 HP:0010730 16 Feb 2016 Finding Double fingernail of fifth finger 16 Feb 2016 Disease Double first metacarpals Human Phenotype Ontology C4025112 HP:0005894 16 Feb 2016 Finding Double hair whorl NCBI curation 16 Feb 2016 Disease Double inlet atrioventricular connection Human Phenotype Ontology C4023302 HP:0011554 16 Feb 2016 Finding Double inlet left ventricle Human Phenotype Ontology C0344622 HP:0011555 16 Feb 2016 Finding Double inlet right ventricle Human Phenotype Ontology C0344621 HP:0011556 16 Feb 2016 Finding Double inlet to single ventricle of indeterminate morphology Human Phenotype Ontology C4023301 HP:0011557 16 Feb 2016 Finding Double inlet to single ventricle with common atrioventricular orifice Human Phenotype Ontology C4023300 HP:0011558 16 Feb 2016 Finding Double inlet to single ventricle with two atrioventricular valves Human Phenotype Ontology C4023299 HP:0011559 16 Feb 2016 Finding Double nail for fifth toe MONDO C1852023 MONDO:0007469 126500 22 Apr 2020 Disease Double orifice mitral valve Human Phenotype Ontology C0344770 HP:0011568 16 Feb 2016 Finding Double outlet left ventricle Human Phenotype Ontology C0265809 HP:0011581 16 Feb 2016 Disease Double outlet right ventricle Human Phenotype Ontology C0013069 HP:0001719 16 Feb 2016 Disease Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy MONDO CN237505 MONDO:0018499 17 Apr 2020 Disease Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis Human Phenotype Ontology C3165091 HP:0011651 16 Feb 2016 Finding Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis Human Phenotype Ontology C4023247 HP:0011652 16 Feb 2016 Finding Double outlet right ventricle with non-committed subpulmonary ventricular septal defect MONDO CN207268 MONDO:0020388 17 Apr 2020 Disease Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis Human Phenotype Ontology C4023246 HP:0011653 16 Feb 2016 Finding Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis Human Phenotype Ontology C4023245 HP:0011654 16 Feb 2016 Finding Double outlet right ventricle with subaortic or doubly committed ventricular septal defect MONDO CN237504 MONDO:0018498 17 Apr 2020 Disease Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis MONDO CN207265 MONDO:0020386 17 Apr 2020 Disease Double Outlet Right Ventricle with subaortic ventricular septal defect C1956411 18 Jan 2019 Finding Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis Human Phenotype Ontology C4023244 HP:0011655 16 Feb 2016 Finding Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis Human Phenotype Ontology C4023243 HP:0011656 16 Feb 2016 Finding Double outlet right ventricle with subpulmonary ventricular septal defect MONDO C1956412 MONDO:0020387 07 Jun 2020 Disease Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis Human Phenotype Ontology C4023242 HP:0011657 16 Feb 2016 Finding Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Human Phenotype Ontology C1956413 HP:0011658 16 Feb 2016 Finding Double pterygium MONDO C0155157 MONDO:0001054 17 Apr 2020 Disease Double tachycardia induced by catecholamines 16 Feb 2016 Disease Double tooth Human Phenotype Ontology C4551900 HP:0011089 16 Feb 2016 Finding Double uterus-hemivagina-renal agenesis 16 Feb 2016 Disease Double Y syndrome NCBI curation C3266843 16 Feb 2016 Disease Double-layered patella Human Phenotype Ontology C1856923 HP:0031174 04 Apr 2018 Finding Doughnut lesions of skull, familial NCBI curation C1852022 126550 16 Feb 2016 Disease Dourine MONDO C0013076 MONDO:0005734 17 Apr 2020 Disease Dowling-Degos disease 1 NCBI curation C4552092 179850 16 Feb 2016 Disease Dowling-Degos disease 2 NCBI curation C3809147 615327 16 Feb 2016 Disease Dowling-degos disease 3 NCBI curation C3810286 615674 16 Feb 2016 Disease Dowling-degos disease 4 NCBI curation C3810313 615696 16 Feb 2016 Disease Down syndrome, susceptibility to NCBI curation 16 Feb 2016 Disease down-beat nystagmus CN228658 16 Feb 2016 Finding down-slanting of palpebral fissures 21 Jun 2020 Finding Down-sloping shoulders Human Phenotype Ontology C1856872 HP:0200021 16 Feb 2016 Finding Downbeat nystagmus Human Phenotype Ontology C0585544 HP:0010545 16 Feb 2016 Finding Downgaze palsy Human Phenotype Ontology C4476704 HP:0025330 02 Apr 2017 Finding Downslanted palpebral fissures Human Phenotype Ontology C0423110 HP:0000494 16 Feb 2016 Finding downslanted papebral fissure 22 Aug 2019 Finding Downturned angles 23 Feb 2018 Finding Downturned corners of mouth Human Phenotype Ontology C1866195 HP:0002714 16 Feb 2016 Finding Doxepin response CN077978 16 Feb 2016 Pharmacological response doxepin response - Dosage, Toxicity/ADR PharmGKB CN236529 1183617220 18 May 2016 Pharmacological response Doxorubicin induced cardiomyopathy 16 Feb 2016 Disease Doxorubicin response 22 Oct 2019 Pharmacological response doxorubicin response - Efficacy PharmGKB 1446897383PA449412 06 Jul 2018 Pharmacological response Doyne honeycomb retinal dystrophy C1832174 126600 16 Feb 2016 Disease DPAGT1-CDG MONDO C2931004 MONDO:0011964 608093 17 Apr 2020 Disease Drachtman Weinblatt Sitarz syndrome C2930947 16 Feb 2016 Disease Dracryocystitis CN232372 16 Feb 2016 Finding Drash syndrome C0950121 194080 16 Feb 2016 Disease Dravet syndrome, modifier of CN260078 20 Jun 2019 Disease Dressler syndrome MONDO C0152107 MONDO:0001049 17 Apr 2020 Disease Dronabinol response NCBI curation CN258190 07 Feb 2019 Pharmacological response Drooling Human Phenotype Ontology C0013132 HP:0002307 16 Feb 2016 Finding dropped head syndrome C3266164 07 Nov 2019 Finding DROSHA-related neurodevelopmental disorder 10 Jan 2020 Finding Drospirenone response CN077979 16 Feb 2016 Pharmacological response Drowsiness Human Phenotype Ontology C0013144 HP:0002329 16 Feb 2016 Finding Drug allergy MONDO C0013182 MONDO:0000775 17 Apr 2020 Disease Drug and/or toxic myopathy MONDO MONDO:0016124 17 Apr 2020 Disease Drug dependence MONDO C1510472 MONDO:0005303 17 Apr 2020 Disease Drug hypersensitivity syndrome MONDO MONDO:0044876 17 Apr 2020 Disease Drug induced central sleep apnea MONDO C3662033 MONDO:0024357 17 Apr 2020 Disease drug induced metabolic disease 05 Sep 2019 Finding Drug metabolism or response CN253927 01 Oct 2018 Disease DRUG METABOLISM, ALTERED, CES1-RELATED OMIM C4748035 618057 618057 25 Jul 2018 Disease DRUG METABOLISM, ALTERED, CYP2C8-RELATED OMIM C4693948 618018 618018 22 Jun 2018 Disease Drug or radiation exposure-related interstitial lung disease MONDO CN202350 MONDO:0017039 17 Apr 2020 Disease Drug pseudoallergy MONDO C3662272 MONDO:0044982 17 Apr 2020 Disease Drug psychosis MONDO MONDO:0006730 17 Apr 2020 Disease Drug rash with eosinophilia and systemic symptoms MONDO C3541994 MONDO:0015340 17 Apr 2020 Disease Drug Response and Drug Metabolism CN282535 17 Jun 2020 Disease Drug Toxicity PharmGKB CN236633 18 May 2016 Disease Drug- or toxin-induced pulmonary arterial hypertension MONDO C0340544 MONDO:0017149 17 Apr 2020 Disease Drug-induced agranulocytosis Human Phenotype Ontology C0272178 HP:0012235 16 Feb 2016 Finding Drug-induced akathisia MONDO C0162550 MONDO:0006731 17 Apr 2020 Disease Drug-induced autoimmune hemolytic anemia MONDO C0391817 MONDO:0019535 17 Apr 2020 Disease Drug-induced dyskinesia MONDO C0013386 MONDO:0006732 22 Apr 2020 Disease Drug-induced hepatitis MONDO C1262760 MONDO:0002184 17 Apr 2020 Disease Drug-induced liver injury MONDO MONDO:0005359 17 Apr 2020 Disease Drug-induced liver injury due to flucloxacillin NCBI curation CN070090 16 Feb 2016 Disease Drug-induced localized lipodystrophy MONDO C1274983 MONDO:0019553 17 Apr 2020 Disease Drug-induced lupus erythematosus MONDO C0263591 MONDO:0016474 17 Apr 2020 Disease Drug-induced mental disorder MONDO MONDO:0001423 17 Apr 2020 Disease Drug-induced osteoporosis MONDO C0264115 MONDO:0024650 17 Apr 2020 Disease Drug-related renal tubular dysgenesis MONDO CN206915 MONDO:0019985 17 Apr 2020 Disease Drug-resistant tuberculosis MONDO C0206525 MONDO:0041806 04 Jun 2020 Infectious disease Drug-sensitive hemolytic anemia Human Phenotype Ontology C4025289 HP:0004817 16 Feb 2016 Finding Drugs used in opioid dependence response - Dosage, Efficacy, Metabolism/PK PharmGKB 982034197PA164712721 06 Jul 2018 Pharmacological response Drugs used in opioid dependence response - Metabolism/PK PharmGKB CN236521 982034197 18 May 2016 Pharmacological response Drumstick terminal phalanges Human Phenotype Ontology C1844822 HP:0006129 16 Feb 2016 Finding Drusen Human Phenotype Ontology C1260959 HP:0011510 16 Feb 2016 Finding Drusen, radial, autosomal dominant NCBI curation 16 Feb 2016 Disease Dry age related macular degeneration MONDO MONDO:0100114 17 Apr 2020 Disease Dry beriberi MONDO C0268670 MONDO:0024182 07 Jun 2020 Disease Dry hair Human Phenotype Ontology C0277960 HP:0011359 16 Feb 2016 Finding Dry nipple Human Phenotype Ontology C4531076 HP:0031509 04 Apr 2018 Finding Dry skin Human Phenotype Ontology C0151908 HP:0000958 16 Feb 2016 Finding DSP-related arrhythmogenic cardiomyopathy 10 Jan 2020 Finding DSP-Related Disorders 23 May 2019 Disease dsymorphic features 05 Sep 2019 Finding Duane anomaly Human Phenotype Ontology C1846464 HP:0009921 16 Feb 2016 Finding Duane anomaly mental retardation 16 Feb 2016 Disease Duane anomaly-myopathy-scoliosis syndrome MONDO C4302550 MONDO:0033672 17 Apr 2020 Disease Duane retraction syndrome 2 MONDO C0751083 MONDO:0011444 604356 17 Apr 2020 Disease Duane retraction syndrome 3 with or without deafness NCBI curation C4310752 617041 24 Aug 2016 Disease Duane syndrome type 1 NCBI curation C0994516 126800 16 Feb 2016 Disease Duane syndrome type 3 16 Feb 2016 Disease Duane's syndrome NCBI curation C0013261 16 Feb 2016 Disease Duane-radial ray syndrome C1623209 607323 16 Feb 2016 Disease Dubin-Johnson syndrome C0022350 237500 16 Feb 2016 Disease Dubowitz's syndrome C0175691 223370 16 Feb 2016 Disease Duchenne and Becker muscular dystrophy MONDO C3542021 MONDO:0016899 17 Apr 2020 Disease Duchenne muscular dystrophy NCBI curation C0013264 310200 16 Feb 2016 Disease Duchenne muscular dystrophy, mental retardation, and absence of erg b-wave NCBI curation C4016476 16 Feb 2016 Disease Ductal breast carcinoma NCBI curation C1527349 16 Feb 2016 Disease Ductal breast carcinoma in situ MONDO MONDO:0005023 17 Apr 2020 Disease Ductal breast carcinoma in situ and lobular carcinoma in situ MONDO C0334383 MONDO:0006184 17 Apr 2020 Disease ductal carcinoma in sit CN235604 19 Mar 2016 Finding Ductal carcinoma in situ Human Phenotype Ontology C0007124 HP:0030075 16 Feb 2016 Finding Ductal eccrine adenocarcinoma MONDO C1260964 MONDO:0024245 17 Apr 2020 Disease Ductal or ductular proliferation MONDO C3830377 MONDO:0006185 17 Apr 2020 Disease Duffy Blood group system NCBI curation C0013278 110700 16 Feb 2016 Blood group DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE 16 Feb 2016 Blood group DUFFY BLOOD GROUP SYSTEM, FY(bwk) PHENOTYPE 16 Feb 2016 Blood group DUFFY BLOOD GROUP SYSTEM, FYA/FYB POLYMORPHISM 16 Feb 2016 Blood group Duker-Weiss-Siber syndrome MONDO C2930993 MONDO:0023013 22 Apr 2020 Disease Duloxetine response NCBI curation CN221252 16 Feb 2016 Pharmacological response Dumbbell-shaped femur Human Phenotype Ontology C4025052 HP:0006375 16 Feb 2016 Finding Dumbbell-shaped humerus Human Phenotype Ontology C4025259 HP:0005009 16 Feb 2016 Finding Dumbbell-shaped long bone Human Phenotype Ontology C2749582 HP:0000947 16 Feb 2016 Finding Dumbbell-shaped metaphyses Human Phenotype Ontology C3277123 HP:0002810 16 Feb 2016 Finding Dumping syndrome MONDO C0013288 MONDO:0001979 17 Apr 2020 Disease Duodenal adenocarcinoma Human Phenotype Ontology C0278804 HP:0006771 16 Feb 2016 Finding Duodenal aganglionosis Human Phenotype Ontology C4023345 HP:0011465 16 Feb 2016 Finding Duodenal arteriovenous malformation Human Phenotype Ontology C2702529 HP:0031342 04 Apr 2018 Finding Duodenal atresia (disease) MONDO C0266174 MONDO:0009126 223400 17 Apr 2020 Disease Duodenal atresia tetralogy of Fallot 16 Feb 2016 Disease Duodenal atrophy Human Phenotype Ontology C4022911 HP:0012414 16 Feb 2016 Finding Duodenal disease MONDO C0013289 MONDO:0002866 17 Apr 2020 Disease Duodenal diverticula Human Phenotype Ontology C0341266 HP:0004800 16 Feb 2016 Finding Duodenal gastrin-producing neuroendocrine tumor MONDO C1333321 MONDO:0004411 17 Apr 2020 Disease Duodenal neuroendocrine neoplasm MONDO MONDO:0024500 17 Apr 2020 Disease Duodenal neuroendocrine tumor, well differentiated, low or intermediate grade MONDO C4525619 MONDO:0015063 17 Apr 2020 Disease Duodenal obstruction MONDO C0013292 MONDO:0002688 17 Apr 2020 Disease Duodenal polyposis Human Phenotype Ontology C0578477 HP:0004783 16 Feb 2016 Finding Duodenal somatostatinoma MONDO C1333320 MONDO:0004236 17 Apr 2020 Disease Duodenal stenosis Human Phenotype Ontology C0238093 HP:0100867 16 Feb 2016 Finding Duodenal ulcer Human Phenotype Ontology C0013295 HP:0002588 16 Feb 2016 Finding Duodenal ulcer (disease) MONDO MONDO:0005412 17 Apr 2020 Disease Duodenal ulcer due to antral G-cell hyperfunction C1852009 126840 16 Feb 2016 Disease Duodenal ulcer, hyperpepsinogenemic i NCBI curation C1852008 126850 16 Feb 2016 Disease Duodenal villous adenoma MONDO C1333322 MONDO:0006187 17 Apr 2020 Disease duodenitis C0013298 18 Jan 2019 Finding Duodenogastric reflux MONDO C0013299 MONDO:0006735 17 Apr 2020 Disease Duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery MONDO C1847196 MONDO:0011745 606894 22 Apr 2020 Disease Duodenum cancer MONDO MONDO:0000920 17 Apr 2020 Disease Duplicated clitoris Human Phenotype Ontology C4293675 HP:0030912 02 Apr 2017 Finding Duplicated collecting system Human Phenotype Ontology C1858565 HP:0000081 16 Feb 2016 Finding Duplicated collecting system with bilateral VUR CN235500 12 Mar 2016 Finding Duplicated colon Human Phenotype Ontology C1850328 HP:0005223 16 Feb 2016 Finding Duplicated left hallux 22 Jun 2020 Finding Duplicated left renal pelvis 15 Mar 2018 Finding Duplicated odontoid process Human Phenotype Ontology C4476739 HP:0025374 04 Apr 2018 Finding Duplicated tongue Human Phenotype Ontology C4477034 HP:0040294 04 Apr 2018 Finding Duplicated tragus Human Phenotype Ontology C4021172 HP:0011270 16 Feb 2016 Finding Duplicated ureter with bilateral reflux CN235502 12 Mar 2016 Finding Duplication involving bones of the feet Human Phenotype Ontology C4024578 HP:0009136 16 Feb 2016 Finding Duplication of bones involving the upper extremities Human Phenotype Ontology C4024574 HP:0009142 16 Feb 2016 Finding Duplication of distal phalanx of toe Human Phenotype Ontology C4021322 HP:0010193 16 Feb 2016 Finding Duplication of hand bones Human Phenotype Ontology C3276746 HP:0004275 16 Feb 2016 Finding Duplication of internal organs Human Phenotype Ontology C4025234 HP:0005217 16 Feb 2016 Finding Duplication of leg mirror foot 16 Feb 2016 Disease Duplication of metatarsal bones Human Phenotype Ontology C4025778 HP:0001449 16 Feb 2016 Finding Duplication of middle phalanx of toe Human Phenotype Ontology C4021318 HP:0010202 16 Feb 2016 Finding Duplication of pancreatic duct Human Phenotype Ontology C4476901 HP:0030993 04 Apr 2018 Finding Duplication of phalanx of 2nd finger Human Phenotype Ontology C4021369 HP:0009945 16 Feb 2016 Finding Duplication of phalanx of 3rd finger Human Phenotype Ontology C4021364 HP:0009959 16 Feb 2016 Finding Duplication of phalanx of 4th finger Human Phenotype Ontology C4021359 HP:0009972 16 Feb 2016 Finding Duplication of phalanx of 5th finger Human Phenotype Ontology C4021354 HP:0009985 16 Feb 2016 Finding Duplication of phalanx of hallux Human Phenotype Ontology C1860164 HP:0010066 16 Feb 2016 Finding Duplication of phalanx of hand Human Phenotype Ontology C4021349 HP:0009997 16 Feb 2016 Finding Duplication of phalanx of the 3rd toe Human Phenotype Ontology C4021282 HP:0010367 16 Feb 2016 Finding Duplication of phalanx of the 4th toe Human Phenotype Ontology C4021278 HP:0010379 16 Feb 2016 Finding Duplication of phalanx of toe Human Phenotype Ontology C4021328 HP:0010181 16 Feb 2016 Finding Duplication of proximal phalanx of toe Human Phenotype Ontology C4021312 HP:0010211 16 Feb 2016 Finding Duplication of renal pelvis Human Phenotype Ontology C1839269 HP:0005580 16 Feb 2016 Finding Duplication of the 1st metacarpal Human Phenotype Ontology C4021426 HP:0009609 16 Feb 2016 Finding Duplication of the 1st metatarsal Human Phenotype Ontology C1851855 HP:0010075 16 Feb 2016 Finding Duplication of the distal phalanx of hand Human Phenotype Ontology C1849343 HP:0009883 16 Feb 2016 Finding Duplication of the distal phalanx of the 2nd finger Human Phenotype Ontology C4021367 HP:0009948 16 Feb 2016 Finding Duplication of the distal phalanx of the 2nd toe Human Phenotype Ontology C4021272 HP:0010421 16 Feb 2016 Finding Duplication of the distal phalanx of the 3rd finger Human Phenotype Ontology C4021363 HP:0009962 16 Feb 2016 Finding Duplication of the distal phalanx of the 3rd toe Human Phenotype Ontology C4020999 HP:0100398 16 Feb 2016 Finding Duplication of the distal phalanx of the 4th finger Human Phenotype Ontology C4021358 HP:0009975 16 Feb 2016 Finding Duplication of the distal phalanx of the 4th toe Human Phenotype Ontology C4020998 HP:0100399 16 Feb 2016 Finding Duplication of the distal phalanx of the 5th finger Human Phenotype Ontology C4021353 HP:0009988 16 Feb 2016 Finding Duplication of the distal phalanx of the 5th toe Human Phenotype Ontology C4020997 HP:0100400 16 Feb 2016 Finding Duplication of the distal phalanx of the hallux Human Phenotype Ontology C4021339 HP:0010084 16 Feb 2016 Finding Duplication of the distal phalanx of the thumb Human Phenotype Ontology C4021425 HP:0009612 16 Feb 2016 Finding Duplication of the esophagus MONDO CN206470 MONDO:0019619 17 Apr 2020 Disease Duplication of the middle phalanx of hand Human Phenotype Ontology C4021346 HP:0010008 16 Feb 2016 Finding Duplication of the middle phalanx of the 2nd finger Human Phenotype Ontology C4021366 HP:0009949 16 Feb 2016 Finding Duplication of the middle phalanx of the 2nd toe Human Phenotype Ontology C4021273 HP:0010412 16 Feb 2016 Finding Duplication of the middle phalanx of the 3rd finger Human Phenotype Ontology C4021362 HP:0009963 16 Feb 2016 Finding Duplication of the middle phalanx of the 3rd toe Human Phenotype Ontology C4020996 HP:0100401 16 Feb 2016 Finding Duplication of the middle phalanx of the 4th finger Human Phenotype Ontology C4021357 HP:0009976 16 Feb 2016 Finding Duplication of the middle phalanx of the 4th toe Human Phenotype Ontology C4020995 HP:0100402 16 Feb 2016 Finding Duplication of the middle phalanx of the 5th finger Human Phenotype Ontology C4021352 HP:0009989 16 Feb 2016 Finding Duplication of the middle phalanx of the 5th toe Human Phenotype Ontology C4020994 HP:0100403 16 Feb 2016 Finding Duplication of the phalanges of the 2nd toe Human Phenotype Ontology C4021286 HP:0010355 16 Feb 2016 Finding Duplication of the phalanges of the 5th toe Human Phenotype Ontology C4020903 HP:0010391 16 Feb 2016 Finding Duplication of the pituitary gland MONDO C4755258 MONDO:0017808 17 Apr 2020 Disease Duplication of the proximal phalanx of hand Human Phenotype Ontology C4021347 HP:0010006 16 Feb 2016 Finding Duplication of the proximal phalanx of the 2nd finger Human Phenotype Ontology C4021368 HP:0009947 16 Feb 2016 Finding Duplication of the proximal phalanx of the 2nd toe Human Phenotype Ontology C4021274 HP:0010403 16 Feb 2016 Finding Duplication of the proximal phalanx of the 3rd finger Human Phenotype Ontology C4021361 HP:0009964 16 Feb 2016 Finding Duplication of the proximal phalanx of the 3rd toe Human Phenotype Ontology C4020993 HP:0100404 16 Feb 2016 Finding Duplication of the proximal phalanx of the 4th finger Human Phenotype Ontology C4021356 HP:0009977 16 Feb 2016 Finding Duplication of the proximal phalanx of the 4th toe Human Phenotype Ontology C4020992 HP:0100405 16 Feb 2016 Finding Duplication of the proximal phalanx of the 5th finger Human Phenotype Ontology C4021351 HP:0009990 16 Feb 2016 Finding Duplication of the proximal phalanx of the 5th toe Human Phenotype Ontology C4020991 HP:0100406 16 Feb 2016 Finding Duplication of the proximal phalanx of the hallux Human Phenotype Ontology C4024054 HP:0010093 16 Feb 2016 Finding Duplication of the proximal phalanx of the thumb Human Phenotype Ontology C4021424 HP:0009613 16 Feb 2016 Finding Duplication of the sella turcica Human Phenotype Ontology C4477040 HP:0040304 04 Apr 2018 Finding Duplication of the thumb unilateral biphalangeal 16 Feb 2016 Disease Duplication of the upper lip Human Phenotype Ontology C4477035 HP:0040295 04 Apr 2018 Finding Duplication of thumb phalanx Human Phenotype Ontology C4021370 HP:0009942 16 Feb 2016 Finding Duplication of urethra C0266348 16 Feb 2016 Disease Duplication/inversion 15q11 MONDO C3711376 MONDO:0018027 17 Apr 2020 Disease Dupont Sellier Chochillon syndrome 16 Feb 2016 Disease Dupuytren's disease of palm, with contracture NCBI curation C0013312 126900 16 Feb 2016 Disease Dural ectasia Human Phenotype Ontology C1851712 HP:0100775 16 Feb 2016 Finding Dural sinus malformation MONDO CN206899 MONDO:0019972 17 Apr 2020 Disease Dursun syndrome NCBI curation C2751630 16 Feb 2016 Disease Dwarfism bluish sclerae 16 Feb 2016 Disease Dwarfism deafness retinitis pigmentosa 16 Feb 2016 Disease Dwarfism lethal type advanced bone age 16 Feb 2016 Disease Dwarfism tall vertebrae C1851996 126950 16 Feb 2016 Disease Dwarfism thin bones multiple fractures 16 Feb 2016 Disease Dwarfism, familial, with muscle spasms MONDO C1833341 MONDO:0010928 600771 22 Apr 2020 Disease Dwarfism, Levi type MONDO C1851994 MONDO:0007479 127100 22 Apr 2020 Disease Dwarfism, low-birth-weight type, with unresponsiveness to growth hormone MONDO C1857197 MONDO:0009127 223500 22 Apr 2020 Disease Dwarfism, mental retardation, and eye abnormality MONDO C0796076 MONDO:0009128 223540 22 Apr 2020 Disease Dwarfism, proportionate, with hip dislocation MONDO C1857196 MONDO:0009129 223550 22 Apr 2020 Disease Dyggve-Melchior-Clausen syndrome C0265286 223800 16 Feb 2016 Disease Dyggve-Melchior-Clausen syndrome, X-linked NCBI curation C1844654 304950 16 Feb 2016 Disease DYM-related disorders 21 Dec 2019 Disease dymorphic features of the hands 05 Sep 2019 Finding DYNC1H1-related disorders 13 Oct 2017 Disease DYNC1H1-related neuronopathy 21 May 2020 Disease DYNC2H1-Related Disorders 23 May 2019 Disease Dynein arm defect of respiratory motile cilia Human Phenotype Ontology C4022990 HP:0012255 16 Feb 2016 Finding Dypsarrhythmia 23 Jan 2020 Finding DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion MONDO C5191008 MONDO:0017056 17 Apr 2020 Disease Dysarthria Human Phenotype Ontology C0013362 HP:0001260 16 Feb 2016 Finding Dysautonomia Human Phenotype Ontology C0013363 HP:0002459 16 Feb 2016 Finding Dysautonomia-like disorder MONDO C1857153 MONDO:0009132 224000 22 Apr 2020 Disease Dysbaric osteonecrosis MONDO C3494941 MONDO:0000840 17 Apr 2020 Disease Dysbetalipoproteinemia due to apoe2 NCBI curation 16 Feb 2016 Disease Dysbetalipoproteinemia due to defect in apolipoprotein e-d NCBI curation 16 Feb 2016 Disease Dyscalculia Human Phenotype Ontology C1411876 HP:0002442 16 Feb 2016 Finding Dyscalculia (disease) MONDO MONDO:0001552 17 Apr 2020 Disease Dyschondrosteosis-nephritis syndrome MONDO C1851986 MONDO:0007482 127350 17 Apr 2020 Disease Dyschromatopsia Human Phenotype Ontology C0858618 HP:0007641 16 Feb 2016 Finding dyschromatosis CN219572 16 Feb 2016 Finding Dyschromatosis universalis hereditaria OMIM phenotypic series C2930995 PS127500 16 Feb 2016 Disease Dyschromatosis universalis hereditaria 1 NCBI curation C2675711 127500 16 Feb 2016 Disease Dyschromatosis universalis hereditaria 2 NCBI curation C2675183 612715 16 Feb 2016 Disease Dyschromatosis universalis hereditaria 3 NCBI curation C3809394 615402 16 Feb 2016 Disease Dysdiadochokinesis Human Phenotype Ontology C0234979 HP:0002075 16 Feb 2016 Finding Dysembryoplastic neuroepithelial tumor C1266177 16 Feb 2016 Disease Dysequilibrium syndrome NCBI curation C0394006 23 May 2016 Disease Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin NCBI curation C3807235 603529 24 Aug 2016 Disease Dyserythropoietic anemia with thrombocytopenia NCBI curation C4016507 16 Feb 2016 Disease Dysesthesia Human Phenotype Ontology C0392699 HP:0012534 16 Feb 2016 Finding Dysesthetic Vulvodynia 16 Feb 2016 Disease DYSF- Related Disorder 13 Oct 2017 Disease DYSF-Related Disorders CN239317 02 Dec 2016 Disease Dysfibrinogenemia Human Phenotype Ontology C1260903 HP:0011901 16 Feb 2016 Disease Dysfibrinogenemia causing recurrent thrombosis NCBI curation 16 Feb 2016 Disease Dysfibrinogenemia, congenital NCBI curation C0272350 616004 16 Feb 2016 Disease Dysfunction of lateral corticospinal tracts Human Phenotype Ontology C1832671 HP:0007299 16 Feb 2016 Finding Dysfunctional alternative complement pathway Human Phenotype Ontology C1839458 HP:0005423 16 Feb 2016 Finding Dysgammaglobulinemia Human Phenotype Ontology C0013374 HP:0002961 16 Feb 2016 Finding Dysgenesis of the basal ganglia Human Phenotype Ontology C4476592 HP:0025102 02 Apr 2017 Finding Dysgenesis of the cerebellar vermis Human Phenotype Ontology C4025719 HP:0002195 16 Feb 2016 Finding Dysgenesis of the hippocampus Human Phenotype Ontology C4476591 HP:0025101 02 Apr 2017 Finding Dysgenesis of the hypothalamus Human Phenotype Ontology C4476588 HP:0025098 02 Apr 2017 Finding Dysgenesis of the thalamus Human Phenotype Ontology C4476589 HP:0025099 02 Apr 2017 Finding Dysgerminoma Human Phenotype Ontology C0013377 HP:0100621 16 Feb 2016 Disease Dysgerminoma of ovary MONDO C0346185 MONDO:0003481 17 Apr 2020 Disease Dysgraphia Human Phenotype Ontology C0234144 HP:0010526 16 Feb 2016 Finding Dysgraphia (disease) MONDO MONDO:0003038 17 Apr 2020 Disease Dysharmonic accelerated bone age Human Phenotype Ontology C4021907 HP:0200001 16 Feb 2016 Finding Dysharmonic bone age Human Phenotype Ontology C4020918 HP:0200000 16 Feb 2016 Finding Dysharmonic delayed bone age Human Phenotype Ontology C1859444 HP:0005832 16 Feb 2016 Finding Dysharmonic maturation of the hand bones Human Phenotype Ontology C4021685 HP:0004053 16 Feb 2016 Finding Dysharmonic skeletal maturation muscular fiber disproportion 16 Feb 2016 Disease Dyshidrosis MONDO C0032633 MONDO:0006540 17 Apr 2020 Disease Dyshormonogenic goiter MONDO C0152077 MONDO:0001460 17 Apr 2020 Disease Dyskeratosis congenita OMIM phenotypic series C0265965 PS127550 16 Feb 2016 Disease Dyskeratosis congenita autosomal recessive 1 NCBI curation C1857144 224230 16 Feb 2016 Disease Dyskeratosis congenita, autosomal dominant 1 MONDO C4551974 MONDO:0007485 127550 22 Apr 2020 Disease Dyskeratosis congenita, autosomal dominant 6 NCBI curation C4225284 616553 16 Feb 2016 Disease Dyskeratosis congenita, autosomal dominant, 2 NCBI curation C3151443 613989 16 Feb 2016 Disease Dyskeratosis congenita, autosomal dominant, 3 NCBI curation C3151445 613990 16 Feb 2016 Disease Dyskeratosis congenita, autosomal dominant, 4 NCBI curation C3808802 16 Feb 2016 Disease Dyskeratosis congenita, autosomal recessive 2 NCBI curation C3151441 613987 16 Feb 2016 Disease Dyskeratosis congenita, autosomal recessive 6 NCBI curation C4225356 616353 16 Feb 2016 Disease Dyskeratosis congenita, autosomal recessive 7 NCBI curation CN232699 16 Feb 2016 Disease Dyskeratosis congenita, autosomal recessive, 3 NCBI curation C3151442 613988 16 Feb 2016 Disease Dyskeratosis congenita, autosomal recessive, 4 NCBI curation C3151444 16 Feb 2016 Disease Dyskeratosis congenita, autosomal recessive, 5 NCBI curation C3554656 615190 16 Feb 2016 Disease Dyskeratosis Congenita, Dominant CN239266 02 Dec 2016 Disease Dyskeratosis Congenita, Recessive CN239315 02 Dec 2016 Disease Dyskeratosis congenita, X-linked MONDO C1148551 MONDO:0010584 305000 22 Apr 2020 Disease Dyskinesia Human Phenotype Ontology C0013384 HP:0100660 16 Feb 2016 Finding Dyskinesia of esophagus MONDO C0014858 MONDO:0004729 17 Apr 2020 Disease Dyskinesia, familial, with facial myokymia NCBI curation C1847627 606703 16 Feb 2016 Disease Dyskinesia, limb and orofacial, infantile-onset NCBI curation C4310792 616921 26 May 2016 Disease Dyskinesia, seizures, and intellectual developmental disorder NCBI curation C4310683 617171 20 Jun 2017 Disease Dyskinetic ataxic cerebral palsy 23 Jan 2020 Finding Dyslexia Human Phenotype Ontology C0476254 HP:0010522 16 Feb 2016 Finding Dyslexia (disease) MONDO MONDO:0005489 17 Apr 2020 Disease Dyslexia 1 NCBI curation C1851967 127700 16 Feb 2016 Disease Dyslexia 2 NCBI curation C1838436 600202 16 Feb 2016 Disease Dyslexia 3 NCBI curation C1858662 604254 16 Feb 2016 Disease Dyslexia 4 NCBI curation 16 Feb 2016 Disease Dyslexia 5 NCBI curation C1847184 606896 16 Feb 2016 Disease Dyslexia 6 NCBI curation C1847757 606616 16 Feb 2016 Disease Dyslexia 7 NCBI curation 16 Feb 2016 Disease Dyslexia 8 NCBI curation C1837009 608995 16 Feb 2016 Disease Dyslexia 9 NCBI curation C1845296 300509 16 Feb 2016 Disease Dysmenorrhea Human Phenotype Ontology C0013390 HP:0100607 16 Feb 2016 Finding Dysmetria Human Phenotype Ontology C0234162 HP:0001310 16 Feb 2016 Finding Dysmetric saccades Human Phenotype Ontology C1836392 HP:0000641 16 Feb 2016 Finding dysmorphic CN238735 19 Oct 2016 Finding dysmorphic at birth, developed seizures, atrial septal defect, coarctation of the aorta, hypotonia, gastroesophageal refulx disease, developmental delay CN235273 19 Feb 2016 Finding dysmorphic cranial features 05 Sep 2019 Finding Dysmorphic craniofacial features CN235263 19 Feb 2016 Finding Dysmorphic Face 20 Jun 2019 Finding Dysmorphic features NCBI curation C0432072 16 Feb 2016 Finding Dysmorphic features suggestive of Costello syndrome CN235277 19 Feb 2016 Finding Dysmorphic inferior cerebellar vermis Human Phenotype Ontology C4022893 HP:0012460 16 Feb 2016 Finding Dysmorphic sialidosis with renal involvement C0268232 256150 16 Feb 2016 Disease Dysmorphic/Dysplastic phenotype CN230738 16 Feb 2016 Finding Dysmorphism C1737329 16 Feb 2016 Finding Dysmorphism abnormal vocalization mental retardation 16 Feb 2016 Disease Dysmorphism cleft palate loose skin 16 Feb 2016 Disease Dysmorphism-cleft palate-loose skin syndrome MONDO CN200364 MONDO:0015782 17 Apr 2020 Disease Dysmorphism-pectus carinatum-joint laxity syndrome MONDO C4518558 MONDO:0016219 17 Apr 2020 Disease Dysmorphism-short stature-deafness-disorder of sex development syndrome MONDO C4518561 MONDO:0016433 17 Apr 2020 Disease dysmorphy CN239859 11 Jan 2017 Disease Dysmyelinating leukodystrophy Human Phenotype Ontology C3278204 HP:0006978 16 Feb 2016 Finding Dysmyelination 16 Feb 2016 Disease Dysmyelination with jaundice NCBI curation C1857143 224250 16 Feb 2016 Disease Dysosteosclerosis C0432262 224300 16 Feb 2016 Disease Dysostosis MONDO C0013393 MONDO:0018234 17 Apr 2020 Disease Dysostosis acral with facial and genital abnormalities 16 Feb 2016 Disease Dysostosis multiplex Human Phenotype Ontology CN000882 HP:0000943 16 Feb 2016 Disease Dysostosis of genetic origin MONDO CN229168 MONDO:0018454 17 Apr 2020 Disease Dysostosis of genetic origin with limb anomaly as a major feature MONDO CN227375 MONDO:0018455 17 Apr 2020 Disease Dysostosis with brachydactyly with extraskeletal manifestations MONDO CN261752 MONDO:0028743 17 Apr 2020 Disease Dysostosis with brachydactyly without extraskeletal manifestations MONDO CN261753 MONDO:0028742 17 Apr 2020 Disease Dysostosis with combined reduction defects of upper and lower limbs MONDO CN227132 MONDO:0017433 17 Apr 2020 Disease Dysostosis with limb and face anomalies as a major feature MONDO CN261754 MONDO:0018236 17 Apr 2020 Disease Dysostosis with limb anomaly as a major feature MONDO CN227288 MONDO:0018235 17 Apr 2020 Disease Dysostosis with predominant craniofacial involvement MONDO CN261755 MONDO:0019710 17 Apr 2020 Disease Dysostosis with predominant vertebral and costal involvement MONDO CN261756 MONDO:0019711 17 Apr 2020 Disease Dyspareunia Human Phenotype Ontology C1384606 HP:0030016 16 Feb 2016 Finding Dyspepsia MONDO C0013395 MONDO:0002268 17 Apr 2020 Disease Dysphagia Human Phenotype Ontology C0011168 HP:0002015 16 Feb 2016 Finding Dysphagia lusoria MONDO C0267073 MONDO:0020418 17 Apr 2020 Disease Dysphasia Human Phenotype Ontology C0973461 HP:0002357 16 Feb 2016 Finding Dysphasia, familial developmental NCBI curation C1838630 600117 16 Feb 2016 Disease Dysphasic dementia, hereditary 16 Feb 2016 Disease Dysphonia Human Phenotype Ontology C1527344 HP:0001618 16 Feb 2016 Finding Dysplasia C0334044 18 Jan 2019 Finding Dysplasia epiphysealis hemimelica C0432282 127800 16 Feb 2016 Disease Dysplasia of cervix MONDO C0007868 MONDO:0006736 17 Apr 2020 Disease Dysplasia of second lumbar vertebra Human Phenotype Ontology C4025310 HP:0004589 16 Feb 2016 Finding dysplasia of the distal/ middle phalanges of the right index finger 19 Jul 2019 Finding Dysplasia of the femoral head Human Phenotype Ontology C4021251 HP:0010575 16 Feb 2016 Finding dysplasia of the mitochondrial sheath 30 Jun 2018 Disease Dysplasia of the phalanges of the little toes 26 Jul 2019 Finding dysplasia of the postaxial toes of both feet 19 Jul 2019 Finding Dysplasminogenemia NCBI curation CN043003 16 Feb 2016 Disease Dysplastic aortic valve Human Phenotype Ontology C1866207 HP:0005176 16 Feb 2016 Finding Dysplastic corpus callosum Human Phenotype Ontology C0431369 HP:0006989 16 Feb 2016 Finding Dysplastic cortical hyperostosis C5190839 16 Feb 2016 Disease Dysplastic distal radial epiphyses Human Phenotype Ontology C1862131 HP:0005013 16 Feb 2016 Finding Dysplastic distal thumb phalanges with a central hole Human Phenotype Ontology C4025153 HP:0005688 16 Feb 2016 Finding Dysplastic erythropoesis Human Phenotype Ontology C4023032 HP:0012134 16 Feb 2016 Finding Dysplastic gangliocytoma of the cerebellum Human Phenotype Ontology CN244520 HP:0500009 04 Apr 2018 Finding Dysplastic granulopoesis Human Phenotype Ontology C4023030 HP:0012136 16 Feb 2016 Finding Dysplastic iliac wings Human Phenotype Ontology C1837487 HP:0008794 16 Feb 2016 Finding dysplastic kidney 10 Jun 2020 Finding Dysplastic liver nodules 10 Jan 2020 Finding Dysplastic mitral valve 30 Mar 2018 Finding Dysplastic patella Human Phenotype Ontology C1849580 HP:0006446 16 Feb 2016 Finding dysplastic pinna 23 Jun 2020 Finding Dysplastic pulmonary valve Human Phenotype Ontology C1866206 HP:0005164 16 Feb 2016 Finding Dysplastic radii Human Phenotype Ontology C4025046 HP:0006433 16 Feb 2016 Finding Dysplastic sacrum Human Phenotype Ontology C0431414 HP:0008455 16 Feb 2016 Finding Dysplastic testes Human Phenotype Ontology C1837380 HP:0008733 16 Feb 2016 Finding Dysplastic tricuspid valve Human Phenotype Ontology C4255215 HP:0030732 02 Apr 2017 Finding Dyspnea Human Phenotype Ontology C0013404 HP:0002094 16 Feb 2016 Finding dyspnoea 16 Feb 2016 Finding DYSPROTHROMBINEMIA PROTHROMBIN HIMI-II 16 Feb 2016 Named protein variant Dysraphism cleft lip palate limb reduction defects 16 Feb 2016 Disease Dysraphism-cleft lip/palate-limb reduction defects syndrome MONDO CN201798 MONDO:0016604 17 Apr 2020 Disease Dyssegmental Dysplasia C1857100 02 Dec 2016 Disease Dyssegmental dysplasia and glaucoma 16 Feb 2016 Disease Dyssegmental dysplasia with glaucoma NCBI curation C1832111 601561 16 Feb 2016 Disease Dysspondyloenchondromatosis MONDO C4302548 MONDO:0019412 17 Apr 2020 Disease Dystelephalangy C1851955 128000 16 Feb 2016 Disease Dysthymic disorder MONDO MONDO:0001442 17 Apr 2020 Disease Dystocia MONDO MONDO:0006737 17 Apr 2020 Disease Dystonia OMIM phenotypic series C0013421 PS128100 16 Feb 2016 Disease Dystonia 1 NCBI curation C1851945 128100 16 Feb 2016 Disease Dystonia 1, torsion, late-onset NCBI curation C4016920 16 Feb 2016 Disease Dystonia 1, torsion, modifier of NCBI curation 16 Feb 2016 Disease Dystonia 12 C1868681 128235 16 Feb 2016 Disease Dystonia 16 C2677567 612067 16 Feb 2016 Disease Dystonia 21 NCBI curation C3281236 614588 16 Feb 2016 Disease Dystonia 23 NCBI curation C3538999 614860 16 Feb 2016 Disease Dystonia 24 NCBI curation C3554374 615034 16 Feb 2016 Disease Dystonia 25 NCBI curation C3554447 615073 16 Feb 2016 Disease Dystonia 26, myoclonic NCBI curation C4225341 616398 16 Feb 2016 Disease Dystonia 27 NCBI curation C4225336 616411 16 Feb 2016 Disease Dystonia 28, childhood-onset NCBI curation C4310633 617284 20 Jun 2017 Disease Dystonia 5 MONDO C1851920 MONDO:0007495 128230 17 Apr 2020 Disease Dystonia 9 NCBI curation C1832855 601042 24 Aug 2016 Disease Dystonia with cerebellar atrophy NCBI curation C2673697 611694 16 Feb 2016 Disease Dystonia with ringbinden NCBI curation C1857089 224550 16 Feb 2016 Disease Dystonia, adult-onset NCBI curation C0752197 16 Feb 2016 Disease Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities NCBI curation C4310634 617282 20 Jun 2017 Disease Dystonia, dopa-responsive CN221588 16 Feb 2016 Disease Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive NCBI curation C2673535 16 Feb 2016 Disease Dystonia, early-onset atypical, with myoclonic features NCBI curation 16 Feb 2016 Disease Dystonia, intellectual disability and language impairment CN239093 18 Nov 2016 Disease Dystonia, mitochondrial NCBI curation C4016607 26 May 2016 Disease Dystonia, primary cervical NCBI curation C1865819 16 Feb 2016 Disease Dystonia-1, torsion CN260084 20 Jun 2019 Disease Dystonia-aphonia syndrome MONDO C5190573 MONDO:0018476 17 Apr 2020 Disease Dystonic posturing C0426961 16 Feb 2016 Finding Dystopic os odontoideum Human Phenotype Ontology C3552843 HP:0040143 16 Feb 2016 Finding Dystransthyretinemic euthyroidal hyperthyroxinemia NCBI curation C2750824 145680 16 Feb 2016 Disease dystrophia CN239855 11 Jan 2017 Disease Dystrophic epidermolysis bullosa C0079294 16 Feb 2016 Disease Dystrophic epidermolysis bullosa, nails only MONDO C4302547 MONDO:0015553 17 Apr 2020 Disease Dystrophic fingernails Human Phenotype Ontology C3551426 HP:0008391 16 Feb 2016 Finding Dystrophic toenail Human Phenotype Ontology C1833225 HP:0001810 16 Feb 2016 Finding Dystrophies primarily involving the retinal pigment epithelium MONDO MONDO:0001924 17 Apr 2020 Disease Dystrophin deficiency 29 Mar 2020 Disease Dystrophinopathies NCBI curation CN043595 16 Feb 2016 Disease Dystrophinopathy 16 Feb 2016 Disease Dysuria Human Phenotype Ontology C0013428 HP:0100518 16 Feb 2016 Finding Eagle syndrome 16 Feb 2016 Disease Eales disease C0271073 16 Feb 2016 Disease Ear antitragus, tag at base of NCBI curation C1851905 128290 16 Feb 2016 Disease ear creases 13 Sep 2017 Finding Ear flare NCBI curation C1851902 128400 16 Feb 2016 Disease Ear folding NCBI curation C1851901 128500 16 Feb 2016 Disease Ear infection MONDO C0699744 MONDO:0021666 04 Jun 2020 Infectious disease Ear malformation MONDO C0266589 MONDO:0007500 128600 17 Apr 2020 Disease Ear neoplasm MONDO MONDO:0021233 17 Apr 2020 Disease Ear pain Human Phenotype Ontology C0013456 HP:0030766 02 Apr 2017 Finding Ear pits, posterior helical NCBI curation C1851900 128710 16 Feb 2016 Disease Ear without helix NCBI curation C1851899 128800 16 Feb 2016 Disease Earlobe attachment, attached vs unattached NCBI curation C1851898 128900 16 Feb 2016 Disease Earlobe indentations, posterior NCBI curation 16 Feb 2016 Disease Earlobes, thickened, with conductive deafness from incudostapedial abnormalities NCBI curation C1851896 128980 16 Feb 2016 Disease Early balding Human Phenotype Ontology C4025718 HP:0002234 16 Feb 2016 Finding Early congenital syphilis MONDO C0275859 MONDO:0000333 04 Jun 2020 Infectious disease Early cutaneous photosensitivity Human Phenotype Ontology C4024889 HP:0007396 16 Feb 2016 Finding Early dementia 30 Jul 2019 Finding Early embryonic arrest 25 Apr 2018 Finding Early Infantile Epilepsy 20 Jun 2019 Finding Early infantile epileptic encephalopathy Orphanet C4552072 ORPHA1934 16 Feb 2016 Disease Early infantile epileptic encephalopathy 10 NCBI curation C3150667 613402 16 Feb 2016 Disease Early infantile epileptic encephalopathy 11 NCBI curation C3150987 613721 16 Feb 2016 Disease Early infantile epileptic encephalopathy 12 NCBI curation C3150988 613722 16 Feb 2016 Disease Early infantile epileptic encephalopathy 13 NCBI curation C3281191 614558 16 Feb 2016 Disease Early infantile epileptic encephalopathy 14 NCBI curation C3554195 614959 16 Feb 2016 Disease Early infantile epileptic encephalopathy 15 NCBI curation C3554316 615006 16 Feb 2016 Disease Early infantile epileptic encephalopathy 16 NCBI curation C3809173 615338 16 Feb 2016 Disease Early infantile epileptic encephalopathy 17 NCBI curation C3809606 615473 16 Feb 2016 Disease Early infantile epileptic encephalopathy 18 NCBI curation C3809624 615476 16 Feb 2016 Disease Early infantile epileptic encephalopathy 2 NCBI curation C4750718 300672 16 Feb 2016 Disease Early infantile epileptic encephalopathy 21 NCBI curation C4014430 615833 16 Feb 2016 Disease Early infantile epileptic encephalopathy 34 NCBI curation C4225257 616645 16 Feb 2016 Disease Early infantile epileptic encephalopathy 4 NCBI curation C2677326 612164 16 Feb 2016 Disease Early infantile epileptic encephalopathy 5 NCBI curation C3150731 613477 16 Feb 2016 Disease Early infantile epileptic encephalopathy 55 NCBI curation C4539843 617599 23 Apr 2018 Disease Early infantile epileptic encephalopathy 59 NCBI curation C4693550 617904 23 Apr 2018 Disease Early infantile epileptic encephalopathy 61 NCBI curation C4693688 617933 23 Apr 2018 Disease Early infantile epileptic encephalopathy 62 NCBI curation C4693699 617938 23 Apr 2018 Disease Early infantile epileptic encephalopathy 7 NCBI curation C3150986 613720 16 Feb 2016 Disease Early infantile epileptic encephalopathy 8 NCBI curation C1845102 300607 16 Feb 2016 Disease Early infantile epileptic encephalopathy 9 NCBI curation C1848137 300088 16 Feb 2016 Disease Early Infantile Epileptic Encephalopathy, Autosomal Dominant CN239232 02 Dec 2016 Disease Early Infantile Epileptic Encephalopathy, Autosomal Recessive CN239237 02 Dec 2016 Disease Early invasive cervical adenocarcinoma MONDO C1333369 MONDO:0004530 17 Apr 2020 Disease Early myoclonic encephalopathy C0270855 609304 16 Feb 2016 Disease Early onset absence epilepsy MONDO MONDO:0000417 17 Apr 2020 Disease Early onset absence seizures Human Phenotype Ontology C4023510 HP:0011152 16 Feb 2016 Finding Early onset Alzheimer disease with behavioral disturbance C3697680 17 Oct 2019 Disease early onset breast cancer and family history breast and other cancers CN241986 15 Apr 2017 Finding Early onset cerebellar ataxia with retained tendon reflexes C0393520 212895 16 Feb 2016 Disease early onset developmental delay and regression CN230263 16 Feb 2016 Finding Early onset epileptic encephalopathy CN230733 16 Feb 2016 Disease Early onset focal segmental glomerulosclerosis CN228292 16 Feb 2016 Finding Early onset hypertension MONDO MONDO:0005430 17 Apr 2020 Disease early onset hypotonia CN188068 16 Feb 2016 Finding early onset infantile encephalopathy CN236797 24 Jun 2016 Finding Early Onset Neurological Disease Trait 11 Oct 2019 Finding Early onset of sexual maturation Human Phenotype Ontology C4022392 HP:0100000 16 Feb 2016 Finding Early onset osteoporosis CN234654 16 Feb 2016 Finding Early onset severe obesity 14 Dec 2017 Finding Early ossification of capital femoral epiphyses Human Phenotype Ontology C4024621 HP:0008797 16 Feb 2016 Finding Early posterior subcapsular cataracts 18 May 2018 Finding Early postnatal growth deficiency 19 Sep 2019 Finding Early progressive calcific cardiac valvular disease Human Phenotype Ontology C4024999 HP:0006694 16 Feb 2016 Finding Early repolarization associated with ventricular fibrillation NCBI curation C3150852 613601 16 Feb 2016 Disease Early response to neural induction gene NCBI curation C1854633 605105 16 Feb 2016 Disease Early spermatogenesis maturation arrest Human Phenotype Ontology C4476925 HP:0031039 04 Apr 2018 Finding Early T cell progenitor acute lymphoblastic leukemia CN232350 16 Feb 2016 Disease Early urethral obstruction sequence C0265363 16 Feb 2016 Disease Early yaws MONDO C0275998 MONDO:0001067 04 Jun 2020 Infectious disease Early-onset Alzheimer's disease 07 May 2020 Disease Early-onset ataxia with dementia MONDO CN229275 MONDO:0020139 17 Apr 2020 Disease Early-onset autosomal dominant Alzheimer disease MONDO CN043596 MONDO:0015140 17 Apr 2020 Disease Early-onset calcifying leukoencephalopathy-skeletal dysplasia MONDO CN262945 MONDO:0034143 17 Apr 2020 Disease Early-onset coronary artery disease NCBI curation C4229399 16 Mar 2018 Finding Early-onset dementia of unclear type 07 May 2020 Disease Early-onset epilepsy and intellectual disability 27 Jul 2018 Finding Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation MONDO C4749281 MONDO:0017325 17 Apr 2020 Disease Early-onset generalized dystonia MONDO MONDO:0100016 17 Apr 2020 Disease early-onset inflammatory bowel disease CN230448 16 Feb 2016 Finding Early-onset lamellar cataract MONDO CN237647 MONDO:0018611 17 Apr 2020 Disease Early-onset non-syndromic cataract MONDO C1832423 MONDO:0011060 601371 17 Apr 2020 Disease Early-onset nuclear cataract MONDO CN207247 MONDO:0020376 17 Apr 2020 Disease Early-onset parkinsonism-intellectual disability syndrome MONDO C0796195 MONDO:0010709 311510 17 Apr 2020 Disease Early-onset partial cataract MONDO CN207248 MONDO:0020377 17 Apr 2020 Disease Early-onset posterior subcapsular cataract MONDO CN237646 MONDO:0018610 17 Apr 2020 Disease Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome MONDO C4540059 MONDO:0044696 617669 17 Apr 2020 Disease Early-onset retinal dystrophy 26 Jun 2019 Disease Early-onset schizophrenia CN233208 16 Feb 2016 Finding Early-onset zonular cataract MONDO CN207251 MONDO:0020379 17 Apr 2020 Disease Earring holes, natural NCBI curation C1851895 129000 16 Feb 2016 Disease ears with large lobules 22 Aug 2019 Finding Ears, ability to move NCBI curation C1851889 129100 16 Feb 2016 Disease easily fatigued C1859691 18 Jan 2019 Finding Easily subluxated first metacarpophalangeal joints Human Phenotype Ontology C4025143 HP:0005747 16 Feb 2016 Finding EAST syndrome MONDO C2748572 MONDO:0013005 612780 22 Apr 2020 Disease Eastern equine encephalitis MONDO C0153065 MONDO:0005736 04 Jun 2020 Infectious disease Easy fatigability Human Phenotype Ontology C1837098 HP:0003388 16 Feb 2016 Finding eating disorder C0013473 05 Sep 2019 Finding Eating seizures MONDO C0393725 MONDO:0015645 17 Apr 2020 Disease Eaton-Lambert syndrome C0022972 16 Feb 2016 Disease EBF3-related disorder CN239924 18 Jan 2017 Disease Ebola hemorrhagic fever MONDO C0282687 MONDO:0005737 04 Jun 2020 Infectious disease Ebola virus disease 16 Feb 2016 Disease Ebstein anomaly of the tricuspid valve Orphanet C0013481 ORPHA1880 224700 09 Mar 2019 Disease EBV-positive T-cell lymphoproliferative disorder of childhood MONDO C2699838 MONDO:0006188 17 Apr 2020 Disease Eccentric visual fixation Human Phenotype Ontology C0262461 HP:0025549 04 Apr 2018 Finding Eccentrochondrodysplasia 16 Feb 2016 Disease Ecchymosis Human Phenotype Ontology C0013491 HP:0031364 04 Apr 2018 Finding Eccrine acrospiroma 16 Feb 2016 Disease Eccrine carcinoma MONDO C1302864 MONDO:0024240 17 Apr 2020 Disease Eccrine mixed tumor of skin MONDO C0346026 MONDO:0002200 17 Apr 2020 Disease Eccrine mucinous carcinoma 16 Feb 2016 Disease Eccrine papillary adenoma MONDO C0334350 MONDO:0003450 22 Apr 2020 Disease Eccrine sweat gland cancer MONDO C1334577 MONDO:0005506 17 Apr 2020 Disease Eccrine sweat gland hamartoma MONDO C1333372 MONDO:0024482 17 Apr 2020 Disease Eccrine sweat gland neoplasm MONDO C1333371 MONDO:0002090 17 Apr 2020 Disease Eccrine syringofibroadenoma Human Phenotype Ontology C1266060 HP:0031018 04 Apr 2018 Finding Eccrine syringofibroadenomatosis with eyelid abnormalities NCBI curation C1863618 603669 16 Feb 2016 Disease Echinococcosis 16 Feb 2016 Disease Echinococcus granulosus infectious disease MONDO C0152068 MONDO:0044346 04 Jun 2020 Infectious disease Echinostomiasis MONDO C0013514 MONDO:0005739 04 Jun 2020 Infectious disease Echo virus 11 sensitivity NCBI curation C1851888 129150 16 Feb 2016 Disease Echogenic fetal bowel Human Phenotype Ontology C2936423 HP:0010943 16 Feb 2016 Finding Echogenic intracardiac focus Human Phenotype Ontology C4023634 HP:0010942 16 Feb 2016 Finding Echogenic intracardiac focus MedGen UID:869212 22 Jun 2020 Finding echogenic kidneys C3549567 19 Oct 2016 Finding Echolalia Human Phenotype Ontology C0013528 HP:0010529 16 Feb 2016 Finding Echolalia (disease) MONDO MONDO:0002904 17 Apr 2020 Disease Echovirus infectious disease MONDO C0013533 MONDO:0005740 04 Jun 2020 Infectious disease ECHS1-related paroxysmal dyskinesia MONDO MONDO:0100019 17 Apr 2020 Disease Eclabion Human Phenotype Ontology C3550430 HP:0012472 16 Feb 2016 Finding Eclampsia Human Phenotype Ontology C0013537 HP:0100601 16 Feb 2016 Disease Ectasia of the left appendage MONDO CN227874 MONDO:0020433 17 Apr 2020 Disease Ectasia of the right atrial appendage MONDO CN227873 MONDO:0020432 17 Apr 2020 Disease Ecthyma MONDO C0013568 MONDO:0001404 04 Jun 2020 Infectious disease Ectodermal dysplasia Human Phenotype Ontology C0013575 HP:0000968 16 Feb 2016 Disease Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant MONDO C3888065 MONDO:0007509 129490 06 May 2020 Disease Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant NCBI curation C3551587 24 Dec 2017 Disease Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant NCBI curation C3541517 614940 16 Feb 2016 Disease ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT 20 Aug 2016 Disease Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive NCBI curation C3539920 614941 16 Feb 2016 Disease Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type NCBI curation C4310616 617337 20 Jun 2017 Disease Ectodermal dysplasia 13, hair/tooth type NCBI curation C4479322 617392 20 Jun 2017 Disease ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH HYPOHIDROSIS 08 Nov 2018 Disease ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS OMIM C4748560 618180 618180 08 Nov 2018 Disease ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE OMIM C5193145 618535 618535 14 Aug 2019 Disease Ectodermal dysplasia 5, hair/nail type NCBI curation C3554108 614927 16 Feb 2016 Disease Ectodermal dysplasia 6, hair/nail type NCBI curation C3554111 614928 16 Feb 2016 Disease Ectodermal dysplasia 7, hair/nail type NCBI curation C3554117 614929 16 Feb 2016 Disease Ectodermal dysplasia 8, hair/tooth/nail type NCBI curation C3551424 602401 24 Aug 2016 Disease Ectodermal dysplasia 9, hair/nail type NCBI curation C3554127 614931 16 Feb 2016 Disease Ectodermal dysplasia alopecia preaxial polydactyly C2931691 16 Feb 2016 Disease Ectodermal dysplasia and immune deficiency OMIM phenotypic series CN263257 PS300291 08 Feb 2020 Disease Ectodermal dysplasia and immunodeficiency 1 NCBI curation C1846006 300291 08 Feb 2020 Disease ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED 11 Jun 2020 Disease Ectodermal dysplasia and immunodeficiency 2 NCBI curation C2677481 612132 08 Feb 2020 Disease Ectodermal dysplasia and neurosensory deafness NCBI curation C1857068 224800 16 Feb 2016 Disease Ectodermal dysplasia arthrogryposis diabetes mellitus 16 Feb 2016 Disease Ectodermal dysplasia Bartalos type 16 Feb 2016 Disease Ectodermal dysplasia Berlin type 16 Feb 2016 Disease Ectodermal dysplasia blindness 16 Feb 2016 Disease Ectodermal dysplasia Margarita type 16 Feb 2016 Disease Ectodermal dysplasia mental retardation CNS malformation 16 Feb 2016 Disease Ectodermal dysplasia neurosensory deafness 16 Feb 2016 Disease Ectodermal dysplasia osteosclerosis 16 Feb 2016 Disease Ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet NCBI curation C1851851 129540 16 Feb 2016 Disease Ectodermal dysplasia with adrenal cyst MONDO C1851850 MONDO:0007513 129550 17 Apr 2020 Disease ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES OMIM C5231477 618727 618727 04 Jan 2020 Disease ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES, SOMATIC MOSAIC 31 Jan 2020 Disease Ectodermal dysplasia with intellectual disability and syndactyly MONDO C1833169 MONDO:0010955 600906 17 Apr 2020 Disease Ectodermal dysplasia with natal teeth, Turnpenny type MONDO C1832444 MONDO:0011041 601345 22 Apr 2020 Disease Ectodermal dysplasia, 'pure' hair-nail type NCBI curation C1865951 602032 16 Feb 2016 Disease Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema NCBI curation C1845919 300301 16 Feb 2016 Disease Ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum NCBI curation C1857053 225040 16 Feb 2016 Disease Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features C1864966 609944 16 Feb 2016 Disease Ectodermal dysplasia, trichoodontoonychial type MONDO C1851858 MONDO:0007511 129510 22 Apr 2020 Disease Ectodermal dysplasia, X-linked NCBI curation CN069564 16 Feb 2016 Disease Ectodermal dysplasia-blindness syndrome MONDO C1849332 MONDO:0010001 268320 17 Apr 2020 Disease Ectodermal dysplasia-syndactyly syndrome OMIM phenotypic series C4749852 PS613573 16 Feb 2016 Disease Ectodermal dysplasia-syndactyly syndrome 1 NCBI curation C3150807 613573 16 Feb 2016 Disease Ectodermal dysplasia-syndactyly syndrome 2 NCBI curation C3150809 613576 16 Feb 2016 Disease Ectodermal dysplasia/short stature syndrome NCBI curation C4014987 616029 16 Feb 2016 Disease Ectodermal malformation syndrome associated with ocular features MONDO MONDO:0020277 17 Apr 2020 Disease Ectomesenchymoma C0431111 15 Mar 2019 Disease Ectopia cordis Human Phenotype Ontology C0013580 HP:0001683 16 Feb 2016 Finding Ectopia lentis Human Phenotype Ontology C0013581 HP:0001083 06 Sep 2016 Disease Ectopia lentis 2, isolated, autosomal recessive MONDO C3541474 MONDO:0009152 225100 22 Apr 2020 Disease Ectopia lentis et pupillae C1644196 225200 16 Feb 2016 Disease Ectopia lentis, isolated, autosomal dominant NCBI curation C3541518 129600 16 Feb 2016 Disease Ectopia lentis-chorioretinal dystrophy-myopia syndrome MONDO C2931115 MONDO:0015997 17 Apr 2020 Disease Ectopia of the spleen Human Phenotype Ontology C0266632 HP:0010452 16 Feb 2016 Finding Ectopic accesory toe-like appendage Human Phenotype Ontology C4023826 HP:0010440 16 Feb 2016 Finding Ectopic accessory finger-like appendage Human Phenotype Ontology C4023825 HP:0010441 16 Feb 2016 Finding Ectopic ACTH secretion syndrome MONDO C0001231 MONDO:0043472 17 Apr 2020 Disease Ectopic adrenal gland Human Phenotype Ontology C0266275 HP:0011742 16 Feb 2016 Finding Ectopic aldosterone-producing tumor MONDO C4755311 MONDO:0016506 17 Apr 2020 Disease Ectopic anterior pituitary gland Human Phenotype Ontology C4022751 HP:0012731 16 Feb 2016 Finding Ectopic anus Human Phenotype Ontology C0266231 HP:0004397 16 Feb 2016 Finding Ectopic calcification Human Phenotype Ontology C3806226 HP:0010766 16 Feb 2016 Finding Ectopic cilia of eyelid Human Phenotype Ontology C0521574 HP:0430006 16 Feb 2016 Finding Ectopic coarctation 16 Feb 2016 Disease Ectopic Cushing syndrome MONDO CN207427 MONDO:0020527 17 Apr 2020 Disease Ectopic fovea Human Phenotype Ontology C4293705 HP:0025007 02 Apr 2017 Finding Ectopic hormone secretion syndrome associated with neoplasia MONDO C0851689 MONDO:0045072 17 Apr 2020 Disease Ectopic kidney Human Phenotype Ontology C0238207 HP:0000086 16 Feb 2016 Finding Ectopic lacrimal punctum Human Phenotype Ontology C4021230 HP:0010748 16 Feb 2016 Finding Ectopic liver Human Phenotype Ontology C0431603 HP:0030722 02 Apr 2017 Finding Ectopic ossification Human Phenotype Ontology C0029396 HP:0011986 16 Feb 2016 Finding Ectopic ossification familial type 16 Feb 2016 Disease Ectopic ossification in ligament tissue Human Phenotype Ontology C4023094 HP:0011989 16 Feb 2016 Finding Ectopic ossification in muscle tissue Human Phenotype Ontology C4023096 HP:0011987 16 Feb 2016 Finding Ectopic ossification in tendon tissue Human Phenotype Ontology C4023095 HP:0011988 16 Feb 2016 Finding Ectopic ovary Human Phenotype Ontology C0266370 HP:0031086 04 Apr 2018 Finding Ectopic pancreatic tissue Human Phenotype Ontology C0994638 HP:0006278 16 Feb 2016 Finding Ectopic parathyroid Human Phenotype Ontology C4023196 HP:0011769 16 Feb 2016 Finding Ectopic posterior pituitary Human Phenotype Ontology C3279571 HP:0011755 16 Feb 2016 Finding Ectopic pregnancy Human Phenotype Ontology C0032987 HP:0031456 04 Apr 2018 Disease Ectopic respiratory mucosa Human Phenotype Ontology C4022182 HP:0100241 16 Feb 2016 Finding Ectopic scrotum Human Phenotype Ontology C4022542 HP:0030275 16 Feb 2016 Finding Ectopic thymus MONDO C1333375 MONDO:0003848 17 Apr 2020 Disease Ectopic thymus tissue Human Phenotype Ontology C4023795 HP:0010517 16 Feb 2016 Finding Ectopic thyroid Human Phenotype Ontology C1260616 HP:0100028 16 Feb 2016 Finding Ectothrix infectious disease MONDO CN281911 MONDO:0000243 04 Jun 2020 Infectious disease Ectrodactyly Human Phenotype Ontology C0265554 HP:0100257 16 Feb 2016 Disease Ectrodactyly and ectodermal dysplasia without cleft lip/palate NCBI curation C1851849 129810 16 Feb 2016 Disease Ectrodactyly cardiopathy dysmorphism C2931127 16 Feb 2016 Disease Ectrodactyly of left hand 22 Jun 2020 Finding Ectrodactyly of lower limbs, congenital heart defect, and micrognathia NCBI curation C1832441 601348 16 Feb 2016 Disease Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 NCBI curation C1851841 129900 16 Feb 2016 Disease Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 NCBI curation C1858562 604292 16 Feb 2016 Disease Ectrodactyly-cleft palate syndrome NCBI curation C1851848 129830 16 Feb 2016 Disease Ectrodactyly-ectodermal dysplasia-clefting syndrome C0406704 268650 16 Feb 2016 Disease Ectrodactyly-polydactyly NCBI curation C1857040 225290 16 Feb 2016 Disease Ectropion Human Phenotype Ontology C0013592 HP:0000656 16 Feb 2016 Finding Ectropion of lower eyelids Human Phenotype Ontology C0521736 HP:0007651 16 Feb 2016 Finding Eculizumab, poor response to NCBI curation C3810402 615749 16 Feb 2016 Disease Eczema Human Phenotype Ontology C0013595 HP:0000964 16 Feb 2016 Finding Eczematoid dermatitis Human Phenotype Ontology CN000914 HP:0000976 16 Feb 2016 Finding Eczematous dermatitis of eyelid MONDO C0155177 MONDO:0002136 17 Apr 2020 Disease Edema Human Phenotype Ontology C0013604 HP:0000969 16 Feb 2016 Finding Edema disease of swine MONDO C0013605 MONDO:0025061 17 Apr 2020 Disease Edema of the dorsum of feet Human Phenotype Ontology C2919341 HP:0012098 16 Feb 2016 Finding Edema of the dorsum of hands Human Phenotype Ontology C2732374 HP:0007514 16 Feb 2016 Finding Edema of the lower limbs Human Phenotype Ontology C0239340 HP:0010741 16 Feb 2016 Finding Edema of the upper limbs Human Phenotype Ontology C0522035 HP:0010742 16 Feb 2016 Finding Edema, familial idiopathic, prepubertal NCBI curation C1851847 129840 16 Feb 2016 Disease EDICT syndrome NCBI curation C3280392 614303 09 Oct 2017 Disease Edinburgh malformation syndrome C0795933 129850 16 Feb 2016 Disease EDNRB-Related Disorders 23 May 2019 Disease Eds viib NCBI curation 16 Feb 2016 Disease Edwards Patton Dilly syndrome 16 Feb 2016 Disease EEC syndrome and related syndrome MONDO CN207046 MONDO:0020197 17 Apr 2020 Disease EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy 30 Mar 2020 Finding EEG abnormality Human Phenotype Ontology C0151611 HP:0002353 16 Feb 2016 Finding EEG with 4-5/second background activity Human Phenotype Ontology C4023495 HP:0011177 16 Feb 2016 Finding EEG with abnormally slow frequencies Human Phenotype Ontology C4023471 HP:0011203 16 Feb 2016 Finding EEG with burst suppression Human Phenotype Ontology C1969156 HP:0010851 16 Feb 2016 Finding EEG with burst suppression pattern 21 Dec 2019 Finding EEG with central focal spike waves Human Phenotype Ontology C4023082 HP:0012009 16 Feb 2016 Finding EEG with central focal spikes Human Phenotype Ontology C4023077 HP:0012014 16 Feb 2016 Finding EEG with central sharp slow waves Human Phenotype Ontology C4023425 HP:0011291 16 Feb 2016 Finding EEG with central sharp waves Human Phenotype Ontology C2207327 HP:0011293 16 Feb 2016 Finding EEG with centrotemporal focal spike waves Human Phenotype Ontology C4022848 HP:0012557 16 Feb 2016 Finding EEG with changes in voltage Human Phenotype Ontology C4023473 HP:0011201 16 Feb 2016 Finding EEG with constitutional variants Human Phenotype Ontology C4023496 HP:0011176 16 Feb 2016 Finding EEG with continuous slow activity Human Phenotype Ontology C4023470 HP:0011204 16 Feb 2016 Finding EEG with diffuse acceleration Human Phenotype Ontology C4023472 HP:0011202 16 Feb 2016 Finding EEG with focal epileptiform discharges Human Phenotype Ontology C4021199 HP:0011185 16 Feb 2016 Finding EEG with focal sharp slow waves Human Phenotype Ontology C4023479 HP:0011195 16 Feb 2016 Finding EEG with focal sharp waves Human Phenotype Ontology C4023478 HP:0011196 16 Feb 2016 Finding EEG with focal slow activity Human Phenotype Ontology C4021218 HP:0010843 16 Feb 2016 Finding EEG with focal spike waves Human Phenotype Ontology C4023477 HP:0011197 16 Feb 2016 Finding EEG with focal spikes Human Phenotype Ontology C4023481 HP:0011193 16 Feb 2016 Finding EEG with frontal focal spike waves Human Phenotype Ontology C4023081 HP:0012010 16 Feb 2016 Finding EEG with frontal focal spikes Human Phenotype Ontology C4023076 HP:0012015 16 Feb 2016 Finding EEG with frontal sharp slow waves Human Phenotype Ontology C4023426 HP:0011290 16 Feb 2016 Finding EEG with frontal sharp waves Human Phenotype Ontology C2206518 HP:0011294 16 Feb 2016 Finding EEG with generalized epileptiform discharges Human Phenotype Ontology C4023476 HP:0011198 16 Feb 2016 Finding EEG with generalized low amplitude activity Human Phenotype Ontology C4021214 HP:0010854 16 Feb 2016 Finding EEG with generalized polymorphic epileptiform discharges Human Phenotype Ontology C4023474 HP:0011200 16 Feb 2016 Finding EEG with generalized polyspikes Human Phenotype Ontology C4023088 HP:0012001 16 Feb 2016 Finding EEG with generalized sharp slow waves Human Phenotype Ontology C4023475 HP:0011199 16 Feb 2016 Finding EEG with generalized slow activity Human Phenotype Ontology C4021217 HP:0010845 16 Feb 2016 Finding EEG with generalized slow activity grade 1 Human Phenotype Ontology C4023468 HP:0011206 16 Feb 2016 Finding EEG with generalized slow activity grade 2 Human Phenotype Ontology C4023467 HP:0011207 16 Feb 2016 Finding EEG with generalized slow activity grade 3 Human Phenotype Ontology C4023466 HP:0011208 16 Feb 2016 Finding EEG with generalized slow activity grade 4 Human Phenotype Ontology C4021198 HP:0011209 16 Feb 2016 Finding EEG with generalized spikes Human Phenotype Ontology C2206531 HP:0012000 16 Feb 2016 Finding EEG with hyperventilation-induced epileptiform discharges Human Phenotype Ontology C4023682 HP:0010858 16 Feb 2016 Finding EEG with hyperventilation-induced focal epileptiform discharges Human Phenotype Ontology C4023490 HP:0011183 16 Feb 2016 Finding EEG with hyperventilation-induced generalized epileptiform discharges Human Phenotype Ontology C4023489 HP:0011184 16 Feb 2016 Finding EEG with intermittent slow activity Human Phenotype Ontology C4023469 HP:0011205 16 Feb 2016 Finding EEG with irregular generalized spike and wave complexes Human Phenotype Ontology C4025792 HP:0001326 16 Feb 2016 Finding EEG with localized low amplitude activity Human Phenotype Ontology C4021213 HP:0010855 16 Feb 2016 Finding EEG with multifocal slow activity Human Phenotype Ontology C4023687 HP:0010844 16 Feb 2016 Finding EEG with occipital focal spike waves Human Phenotype Ontology C4023080 HP:0012011 16 Feb 2016 Finding EEG with occipital focal spikes Human Phenotype Ontology C4023075 HP:0012016 16 Feb 2016 Finding EEG with occipital sharp slow waves Human Phenotype Ontology C4023429 HP:0011287 16 Feb 2016 Finding EEG with occipital sharp waves Human Phenotype Ontology C2206521 HP:0011292 16 Feb 2016 Finding EEG with occipital slowing Human Phenotype Ontology C4023465 HP:0011210 16 Feb 2016 Finding EEG with parietal focal spike waves Human Phenotype Ontology C4023079 HP:0012012 16 Feb 2016 Finding EEG with parietal focal spikes Human Phenotype Ontology C4023074 HP:0012017 16 Feb 2016 Finding EEG with parietal sharp slow waves Human Phenotype Ontology C4023428 HP:0011288 16 Feb 2016 Finding EEG with parietal sharp waves Human Phenotype Ontology C2206520 HP:0011295 16 Feb 2016 Finding EEG with periodic abnormalities Human Phenotype Ontology C4021211 HP:0010857 16 Feb 2016 Finding EEG with periodic complexes Human Phenotype Ontology C4021212 HP:0010856 16 Feb 2016 Finding EEG with periodic lateralized epileptiform discharges Human Phenotype Ontology C4021215 HP:0010853 16 Feb 2016 Finding EEG with persistent abnormal rhythmic activity Human Phenotype Ontology C4021216 HP:0010846 16 Feb 2016 Finding EEG with photoparoxysmal response Human Phenotype Ontology C3552821 HP:0010852 16 Feb 2016 Finding EEG with photoparoxysmal response grade I Human Phenotype Ontology C4023464 HP:0011211 16 Feb 2016 Finding EEG with photoparoxysmal response grade II Human Phenotype Ontology C4023463 HP:0011212 16 Feb 2016 Finding EEG with photoparoxysmal response grade III Human Phenotype Ontology C4023462 HP:0011213 16 Feb 2016 Finding EEG with photoparoxysmal response grade IV Human Phenotype Ontology C4023461 HP:0011214 16 Feb 2016 Finding EEG with polyspike wave complexes Human Phenotype Ontology C4021757 HP:0002392 16 Feb 2016 Finding EEG with series of focal spikes Human Phenotype Ontology C4023480 HP:0011194 16 Feb 2016 Finding EEG with spike-wave complexes Human Phenotype Ontology C4023683 HP:0010850 16 Feb 2016 Finding EEG with spike-wave complexes (2.5-3.5 Hz) Human Phenotype Ontology C4023685 HP:0010848 16 Feb 2016 Finding EEG with spike-wave complexes (<2.5 Hz) Human Phenotype Ontology C4023686 HP:0010847 16 Feb 2016 Finding EEG with spike-wave complexes (>3.5 Hz) Human Phenotype Ontology C4023684 HP:0010849 16 Feb 2016 Finding EEG with temporal focal spike waves Human Phenotype Ontology C4023078 HP:0012013 16 Feb 2016 Finding EEG with temporal focal spikes Human Phenotype Ontology C4023073 HP:0012018 16 Feb 2016 Finding EEG with temporal sharp slow waves Human Phenotype Ontology C4023427 HP:0011289 16 Feb 2016 Finding EEG with temporal sharp waves Human Phenotype Ontology C2206519 HP:0011296 16 Feb 2016 Finding EEM syndrome C1857041 225280 16 Feb 2016 Disease Efavirenz response NCBI curation C3281153 614546 16 Feb 2016 Pharmacological response efavirenz response - Dosage PharmGKB CN236530 827923032 18 May 2016 Pharmacological response efavirenz response - Metabolism/PK PharmGKB CN236550 1446905231 18 May 2016 Pharmacological response efavirenz response - Toxicity/ADR PharmGKB CN236551 827923042 18 May 2016 Pharmacological response Effort-induced polymorphic ventricular tachycardias Human Phenotype Ontology C4025298 HP:0004758 16 Feb 2016 Finding EGFR-related lung cancer NCBI curation CN130014 16 Feb 2016 Disease Egg allergy MONDO C0559469 MONDO:0005741 17 Apr 2020 Disease Ego-dystonic sexual orientation MONDO C0233880 MONDO:0001693 17 Apr 2020 Disease Ehlers-Danlos musculocontractural syndrome 09 Mar 2020 Finding Ehlers-Danlos syndrome OMIM phenotypic series C0013720 PS130000 16 Feb 2016 Disease Ehlers-Danlos syndrome classic type 2 NCBI curation C4538407 130010 10 Jul 2019 Disease Ehlers-Danlos syndrome dermatosparaxis type NCBI curation C2700425 225410 07 Nov 2019 Disease Ehlers-Danlos syndrome due to tenascin-X deficiency MONDO C1848029 MONDO:0011670 606408 17 Apr 2020 Disease Ehlers-Danlos syndrome progeroid type C4552003 130070 16 Feb 2016 Disease Ehlers-Danlos syndrome with periventricular heterotopia MONDO CN276610 MONDO:0019348 17 Apr 2020 Disease Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss NCBI curation C3281160 614557 23 Oct 2016 Disease EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 OMIM CN706304 617821 617821 23 Dec 2017 Disease Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form NCBI curation C4303789 225320 16 Feb 2016 Disease Ehlers-Danlos syndrome, Beasley-Cohen type MONDO C1837462 MONDO:0012114 608763 22 Apr 2020 Disease Ehlers-Danlos syndrome, cardiac valvular type CN260083 20 Jun 2019 Disease Ehlers-Danlos syndrome, classic type Orphanet C4552122 ORPHA287 130000 16 Feb 2016 Disease Ehlers-Danlos syndrome, classic-like, 1 NCBI curation CN252340 20 Jul 2018 Disease EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 OMIM C4693870 618000 618000 01 Jun 2018 Disease Ehlers-Danlos syndrome, familial joint laxity type C0268349 147900 16 Feb 2016 Disease Ehlers-Danlos syndrome, fibronectinemic type MONDO C1857038 MONDO:0009158 225310 17 Apr 2020 Disease Ehlers-Danlos syndrome, hydroxylysine-deficient C0268342 225400 16 Feb 2016 Disease Ehlers-Danlos syndrome, musculocontractural type NCBI curation C1866294 601776 16 Feb 2016 Disease Ehlers-Danlos syndrome, musculocontractural type 2 NCBI curation C3809845 615539 16 Feb 2016 Disease EHLERS-DANLOS SYNDROME, NONVASCULAR VARIANT 23 Dec 2017 Disease Ehlers-Danlos syndrome, periodontal type, 2 NCBI curation C4310681 617174 20 Jun 2017 Disease Ehlers-Danlos syndrome, procollagen proteinase deficient C4551623 130060 16 Feb 2016 Disease Ehlers-Danlos syndrome, progeroid type, 2 NCBI curation C3809210 615349 16 Feb 2016 Disease Ehlers-Danlos syndrome, type 2 atypical NCBI curation CN071419 16 Feb 2016 Disease Ehlers-Danlos syndrome, type 3 C0268337 130020 16 Feb 2016 Disease Ehlers-Danlos syndrome, type 4 NCBI curation C0268338 130050 16 Feb 2016 Disease Ehlers-Danlos syndrome, type 4 variant NCBI curation CN071423 16 Feb 2016 Disease Ehlers-Danlos syndrome, type 7A NCBI curation C3508773 16 Feb 2016 Disease Ehlers-Danlos syndrome, type 7B NCBI curation C1851801 16 Feb 2016 Disease Ehlers-Danlos syndrome, type 8 C4551499 130080 16 Feb 2016 Disease Ehlers-Danlos syndrome, unspecified autosomal dominant NCBI curation C0220679 130090 16 Feb 2016 Disease Ehlers-Danlos syndrome, vascular-like type MONDO CN262977 MONDO:0016469 17 Apr 2020 Disease Ehlers-Danlos/osteogenesis imperfecta syndrome MONDO CN201460 MONDO:0016470 17 Apr 2020 Disease Ehrlich tumor carcinoma MONDO C0007125 MONDO:0006739 17 Apr 2020 Disease Ehrlichiosis CN281941 16 Feb 2016 Infectious disease Eichsfeld type congenital muscular dystrophy C0410180 602771 16 Feb 2016 Disease EIF2AK1-related condition 10 Jan 2020 Finding EIF2AK2-related condition 10 Jan 2020 Finding Eiken skeletal dysplasia NCBI curation C1838779 600002 16 Feb 2016 Disease Eisenmenger syndrome C0013743 16 Feb 2016 Disease Elagolix Response CN282551 17 Jun 2020 Pharmacological response Elastoderma MONDO C0406555 MONDO:0016439 17 Apr 2020 Disease Elastofibroma dorsi MONDO C0334460 MONDO:0016440 17 Apr 2020 Disease Elastoma MONDO C0473583 MONDO:0016442 17 Apr 2020 Disease Elastosis perforans serpiginosa C0221271 130100 16 Feb 2016 Disease Elbow ankylosis Human Phenotype Ontology C0409477 HP:0003070 16 Feb 2016 Finding Elbow clonus Human Phenotype Ontology C4023217 HP:0011728 16 Feb 2016 Finding Elbow dislocation Human Phenotype Ontology C2720437 HP:0003042 16 Feb 2016 Finding Elbow flexion contracture Human Phenotype Ontology C0409338 HP:0002987 16 Feb 2016 Finding Elbow hyperextensibility 21 Dec 2019 Finding Elbow hypertrichosis Human Phenotype Ontology C4025295 HP:0004780 16 Feb 2016 Finding Elbow pain Human Phenotype Ontology C0239266 HP:0030835 02 Apr 2017 Finding Elder sister affected with Geleophysic Dysplasia 18 May 2018 Finding Elective mutism C0236818 16 Feb 2016 Disease Electrical alternans Human Phenotype Ontology C1142551 HP:0025078 02 Apr 2017 Finding Electroclinical syndrome MONDO MONDO:0000411 17 Apr 2020 Disease Electroencephalographic pattern, beta frequency, quantitative trait locus NCBI curation C3549684 130190 24 Aug 2016 Disease Electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon NCBI curation C1851757 130200 16 Feb 2016 Disease Electroencephalographic peculiarity: fronto-precentral beta wave groups NCBI curation C1851756 130300 16 Feb 2016 Disease Electroencephalographic peculiarity: occipital slow beta waves NCBI curation C1851755 130400 16 Feb 2016 Disease electromyography showed neurogenic traces 13 Feb 2020 Finding Electron transfer flavoprotein-ubiquinone oxidoreductase defect Human Phenotype Ontology C4025586 HP:0003647 16 Feb 2016 Finding Electronegative electroretinogram Human Phenotype Ontology C4021561 HP:0007984 02 Apr 2017 Finding Elejalde disease NCBI curation C1850466 256710 16 Feb 2016 Disease Elevated 7-dehydrocholesterol Human Phenotype Ontology C1849185 HP:0010569 16 Feb 2016 Finding Elevated 8(9)-cholestenol Human Phenotype Ontology C1840014 HP:0003465 16 Feb 2016 Finding Elevated 8-dehydrocholesterol Human Phenotype Ontology C1840013 HP:0003462 16 Feb 2016 Finding Elevated aldolase level Human Phenotype Ontology C4022858 HP:0012544 16 Feb 2016 Finding Elevated alkaline phosphatase Human Phenotype Ontology C1314665 HP:0003155 16 Feb 2016 Finding Elevated alkaline phosphatase of bone origin Human Phenotype Ontology C1833667 HP:0010639 16 Feb 2016 Finding Elevated alkaline phosphatase of hepatic origin Human Phenotype Ontology C4023764 HP:0010638 16 Feb 2016 Finding Elevated alkaline phosphatase of renal origin Human Phenotype Ontology C4023745 HP:0010680 16 Feb 2016 Finding Elevated alpha feto protein 21 Feb 2020 Finding Elevated alpha-fetoprotein Human Phenotype Ontology C0235971 HP:0006254 16 Feb 2016 Finding Elevated amniotic fluid alpha-fetoprotein Human Phenotype Ontology C1839860 HP:0004639 16 Feb 2016 Finding Elevated apolipoprotein A-IV level Human Phenotype Ontology C4476650 HP:0025202 02 Apr 2017 Finding elevated AST and LDH levels CN228790 16 Feb 2016 Finding Elevated basal serum calcitonin CN221570 16 Feb 2016 Disease Elevated brain choline level by MRS Human Phenotype Ontology C4022763 HP:0012706 16 Feb 2016 Finding Elevated brain creatine level by MRS Human Phenotype Ontology C4476569 HP:0025050 02 Apr 2017 Finding Elevated brain lactate level by MRS Human Phenotype Ontology C4022762 HP:0012707 16 Feb 2016 Finding Elevated brain N-acetyl aspartate level by MRS Human Phenotype Ontology C4476572 HP:0025053 02 Apr 2017 Finding Elevated C-reactive protein level Human Phenotype Ontology C4023452 HP:0011227 16 Feb 2016 Finding Elevated calcitonin Human Phenotype Ontology C1868394 HP:0003528 16 Feb 2016 Finding Elevated carcinoembryonic antigen level Human Phenotype Ontology C4476917 HP:0031029 04 Apr 2018 Finding Elevated carcinoma antigen 125 level Human Phenotype Ontology C4476918 HP:0031030 04 Apr 2018 Finding Elevated CD4-positive, CD25-positive regulatory T cell count Human Phenotype Ontology C4022501 HP:0030337 16 Feb 2016 Finding Elevated cholesterol ester level Human Phenotype Ontology C1291155 HP:0031211 04 Apr 2018 Finding Elevated circulating 17-hydroxyprogesterone Human Phenotype Ontology C4531273 HP:0031213 04 Apr 2018 Finding Elevated circulating catecholamine level Human Phenotype Ontology C4025629 HP:0003334 16 Feb 2016 Finding Elevated circulating follicle stimulating hormone level Human Phenotype Ontology C4021550 HP:0008232 04 Apr 2018 Finding Elevated circulating luteinizing hormone level Human Phenotype Ontology C4023101 HP:0011969 04 Apr 2018 Finding Elevated circulating parathyroid hormone level Human Phenotype Ontology C0857973 HP:0003165 02 Apr 2017 Finding Elevated circulating ribitol concentration Human Phenotype Ontology C4531026 HP:0025550 04 Apr 2018 Finding elevated CK levels 05 Sep 2019 Finding elevated CPK enzyme levels CN228787 16 Feb 2016 Finding Elevated creatine kinase after exercise Human Phenotype Ontology C4024700 HP:0008331 16 Feb 2016 Finding Elevated CSF amyloid level Human Phenotype Ontology C4280738 HP:0030862 02 Apr 2017 Finding Elevated CSF biopterin level Human Phenotype Ontology C4073156 HP:0040208 02 Apr 2017 Finding Elevated CSF dopamine level Human Phenotype Ontology C4022801 HP:0012655 16 Feb 2016 Finding Elevated CSF neopterin level Human Phenotype Ontology C4073152 HP:0040204 02 Apr 2017 Finding Elevated dermal desmosine content Human Phenotype Ontology C4477092 HP:0025083 02 Apr 2017 Finding Elevated diastolic blood pressure Human Phenotype Ontology C1840375 HP:0005117 16 Feb 2016 Finding Elevated erythrocyte sedimentation rate Human Phenotype Ontology C0151632 HP:0003565 16 Feb 2016 Finding Elevated factor V activity Human Phenotype Ontology C4021106 HP:0011996 16 Feb 2016 Finding elevated GABA in basal ganglia CN224074 16 Feb 2016 Finding Elevated gamma-glutamyltransferase activity Human Phenotype Ontology C4476869 HP:0030948 02 Apr 2017 Finding Elevated hemoglobin A1c Human Phenotype Ontology C4073162 HP:0040217 02 Apr 2017 Finding Elevated hepatic iron concentration Human Phenotype Ontology C4022891 HP:0012465 16 Feb 2016 Finding Elevated hepatic transaminases Human Phenotype Ontology C1848701 HP:0002910 16 Feb 2016 Finding elevated homogentisic acid in urine 24 Jun 2020 Finding elevated hydroxy-isobutyryl-carnitine CN230265 16 Feb 2016 Finding Elevated imprint of the transverse sinuses Human Phenotype Ontology C4025817 HP:0000930 16 Feb 2016 Finding Elevated intestinal alkaline phosphatase Human Phenotype Ontology C4023744 HP:0010681 16 Feb 2016 Finding Elevated intracellular cystine Human Phenotype Ontology C4025623 HP:0003358 16 Feb 2016 Finding Elevated jugular venous pressure Human Phenotype Ontology C0520861 HP:0030848 02 Apr 2017 Finding Elevated lactic acid 15 Mar 2018 Finding Elevated left atrial pressure Human Phenotype Ontology C4531219 HP:0031299 04 Apr 2018 Finding Elevated leukocyte alkaline phosphatase Human Phenotype Ontology C4024704 HP:0008318 16 Feb 2016 Finding Elevated level of Glutamic Acid 16 Jul 2017 Finding Elevated levels of blood Methylmalonylcarnitine and 3-Hydroxyisovalerylcarnitine 20 Jun 2019 Finding Elevated levels of cholestan-3-ol 30 Apr 2019 Finding Elevated levels of phytanic acid Human Phenotype Ontology C4023786 HP:0010571 16 Feb 2016 Finding Elevated long chain fatty acids Human Phenotype Ontology C1859241 HP:0003455 16 Feb 2016 Finding Elevated maternal serum alpha-fetoprotein Human Phenotype Ontology C0740927 HP:0005984 16 Feb 2016 Finding Elevated mean arterial pressure Human Phenotype Ontology C1840376 HP:0004972 16 Feb 2016 Finding Elevated MHC II surface expression Human Phenotype Ontology C4531157 HP:0031391 04 Apr 2018 Finding Elevated placental alkaline phosphatase Human Phenotype Ontology C4023743 HP:0010682 16 Feb 2016 Finding Elevated plasma acylcarnitine levels Human Phenotype Ontology C4073171 HP:0045045 16 Feb 2016 Finding Elevated plasma branched chain amino acids Human Phenotype Ontology C4024697 HP:0008344 16 Feb 2016 Finding Elevated plasma citrulline Human Phenotype Ontology C4023102 HP:0011966 16 Feb 2016 Finding Elevated plasma pyrophosphate Human Phenotype Ontology C4023157 HP:0011864 16 Feb 2016 Finding Elevated propionylcarnitine level Human Phenotype Ontology C4531053 HP:0031544 04 Apr 2018 Finding Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells Human Phenotype Ontology C1858973 HP:0002851 04 Apr 2018 Finding Elevated proportion of naive T cells Human Phenotype Ontology C4531151 HP:0031398 04 Apr 2018 Finding Elevated prostate-specific antigen level Human Phenotype Ontology C4293696 HP:0025020 02 Apr 2017 Finding Elevated pulmonary artery pressure Human Phenotype Ontology C3805917 HP:0004890 16 Feb 2016 Finding Elevated red cell adenosine deaminase activity Human Phenotype Ontology C4022547 HP:0030270 16 Feb 2016 Finding Elevated right atrial pressure Human Phenotype Ontology C1867421 HP:0005168 16 Feb 2016 Finding Elevated serum 11-deoxycortisol Human Phenotype Ontology C4476775 HP:0025436 04 Apr 2018 Finding Elevated serum acid phosphatase Human Phenotype Ontology C1839866 HP:0003148 16 Feb 2016 Finding Elevated serum alanine aminotransferase 10 Jan 2020 Finding Elevated serum aspartate aminotransferase 10 Jan 2020 Finding elevated serum calcium 18 Aug 2017 Finding Elevated serum creatine phosphokinase Human Phenotype Ontology C0241005 HP:0003236 123320 04 Apr 2018 Finding Elevated serum creatinine Human Phenotype Ontology C0700225 HP:0003259 16 Feb 2016 Finding Elevated serum long-chain fatty acids Human Phenotype Ontology HP:0045016 16 Feb 2016 Finding Elevated serum transaminases during infections Human Phenotype Ontology C1864179 HP:0008150 16 Feb 2016 Finding Elevated sweat chloride Human Phenotype Ontology C1856646 HP:0012236 16 Feb 2016 Finding Elevated sweat electrolytes NCBI curation 16 Feb 2016 Disease Elevated systolic blood pressure Human Phenotype Ontology C1840374 HP:0004421 16 Feb 2016 Finding elevated testosterone in plasma CN295534 06 Jul 2017 Finding Elevated tissue non-specific alkaline phosphatase Human Phenotype Ontology C4021240 HP:0010679 16 Feb 2016 Finding elevated transaminase or LDH 14 Mar 2019 Finding Elevated transferrin saturation Human Phenotype Ontology C4022892 HP:0012463 16 Feb 2016 Finding Elevated urinary 3-hydroxybutyric acid Human Phenotype Ontology C4022414 HP:0040155 16 Feb 2016 Finding Elevated urinary aminoisobutyric acid Human Phenotype Ontology C4022393 HP:0045034 16 Feb 2016 Finding Elevated urinary carboxylic acid Human Phenotype Ontology C4022413 HP:0040156 16 Feb 2016 Finding Elevated urinary catecholamines Human Phenotype Ontology C0241577 HP:0011976 16 Feb 2016 Finding Elevated urinary delta-aminolevulinic acid Human Phenotype Ontology C1848702 HP:0003163 16 Feb 2016 Finding Elevated urinary dopamine Human Phenotype Ontology C4023099 HP:0011979 16 Feb 2016 Finding Elevated urinary epinephrine Human Phenotype Ontology C1868393 HP:0003639 16 Feb 2016 Finding Elevated urinary homovanillic acid Human Phenotype Ontology C4020736 HP:0011977 16 Feb 2016 Finding Elevated urinary norepinephrine Human Phenotype Ontology C4025626 HP:0003345 16 Feb 2016 Finding Elevated urinary PBG 24 Jul 2018 Finding Elevated urinary vanillylmandelic acid Human Phenotype Ontology C4020735 HP:0011978 16 Feb 2016 Finding Elevated urine pyrophosphate Human Phenotype Ontology C4025607 HP:0003491 16 Feb 2016 Finding Elevated vascular endothelial growth factor level Human Phenotype Ontology C4476933 HP:0031052 04 Apr 2018 Finding Elfin facies Human Phenotype Ontology C0332606 HP:0004428 16 Feb 2016 Finding Eliglustat response NCBI curation CN427420 01 Sep 2017 Pharmacological response Elliott Ludman Teebi syndrome C2931128 16 Feb 2016 Disease Elliptical nystagmus CN228293 16 Feb 2016 Finding Elliptocytosis Human Phenotype Ontology C0427480 HP:0004445 16 Feb 2016 Finding Elliptocytosis 1 NCBI curation C2678497 611804 16 Feb 2016 Disease Elliptocytosis 2 NCBI curation C1851741 130600 16 Feb 2016 Disease Elliptocytosis 3 NCBI curation C1866810 617948 17 Apr 2016 Disease Elliptocytosis 4 NCBI curation C1862324 16 Feb 2016 Disease Ellis Yale Winter syndrome 16 Feb 2016 Disease Ellis-van Creveld syndrome NCBI curation C0013903 225500 26 Jan 2020 Disease ELN-related disorder 07 Dec 2018 Disease Elongated chordae tendinae of the mitral valve Human Phenotype Ontology C4476825 HP:0025522 04 Apr 2018 Finding Elongated radius Human Phenotype Ontology C4025048 HP:0006424 16 Feb 2016 Finding Elongated sella turcica Human Phenotype Ontology C1863311 HP:0005463 16 Feb 2016 Finding Elongated superior cerebellar peduncle Human Phenotype Ontology C3810214 HP:0011933 16 Feb 2016 Finding elongated thumb 30 Jan 2019 Finding ELP2-Related Disorders 13 Oct 2017 Disease emaciated appearance 11 May 2019 Finding Emanuel syndrome C1836929 609029 16 Feb 2016 Disease Embryonal carcinoma C0206659 16 Feb 2016 Disease Embryonal carcinoma of the central nervous system MONDO C1333377 MONDO:0018843 17 Apr 2020 Disease EMBRYONAL CELL CARCINOMA 16 Feb 2016 Disease Embryonal extrahepatic bile duct rhabdomyosarcoma MONDO C1333505 MONDO:0002576 17 Apr 2020 Disease Embryonal neoplasm Human Phenotype Ontology C0027654 HP:0002898 16 Feb 2016 Finding Embryonal renal neoplasm Human Phenotype Ontology C4023184 HP:0011794 16 Feb 2016 Finding Embryonal rhabdomyosarcoma Human Phenotype Ontology C0206656 HP:0006743 16 Feb 2016 Disease Embryonal sarcoma 16 Feb 2016 Disease Embryonal tumor of neuroepithelial tissue MONDO CN201955 MONDO:0016708 17 Apr 2020 Disease Embryonic calcium dysregulation 13 Mar 2020 Disease Embryonic cyst of fallopian tube MONDO C0431631 MONDO:0024652 17 Apr 2020 Disease EMC1-Related Disorder 29 Aug 2019 Disease Emerinopathy 16 Feb 2016 Disease Emery Nelson syndrome 16 Feb 2016 Disease Emery-Dreifuss muscular dystrophy OMIM phenotypic series C0410189 PS310300 16 Feb 2016 Disease Emery-Dreifuss muscular dystrophy 1, X-linked NCBI curation C0751337 310300 16 Feb 2016 Disease Emery-Dreifuss muscular dystrophy 2, autosomal dominant NCBI curation C0410190 181350 05 Jan 2020 Disease Emery-Dreifuss muscular dystrophy 3, autosomal recessive NCBI curation C2750035 616516 16 Feb 2016 Disease Emery-Dreifuss muscular dystrophy 4, autosomal dominant NCBI curation C2751807 612998 16 Feb 2016 Disease Emery-Dreifuss muscular dystrophy 5, autosomal dominant NCBI curation C2751805 612999 16 Feb 2016 Disease Emery-Dreifuss muscular dystrophy 6 NCBI curation C2749106 16 Feb 2016 Disease EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED CN356422 16 Feb 2016 Disease Emery-Dreifuss muscular dystrophy 7, AD CN260082 20 Jun 2019 Disease Emery-Dreifuss muscular dystrophy 7, autosomal dominant NCBI curation C3553060 614302 16 Feb 2016 Disease Emery-Dreifuss muscular dystrophy, atypical, autosomal recessive NCBI curation C2750034 16 Feb 2016 Disease Emery-Dreifuss muscular dystrophy, dominant type 16 Feb 2016 Disease Emery-Dreifuss muscular dystrophy, X-linked CN069573 16 Feb 2016 Disease EMG abnormality Human Phenotype Ontology C0476403 HP:0003457 16 Feb 2016 Finding EMG: axonal abnormality Human Phenotype Ontology C4025609 HP:0003482 16 Feb 2016 Finding EMG: chronic denervation signs Human Phenotype Ontology C4025614 HP:0003444 16 Feb 2016 Finding EMG: continuous motor unit activity at rest Human Phenotype Ontology C4022170 HP:0100283 16 Feb 2016 Finding EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Human Phenotype Ontology C4021728 HP:0003403 16 Feb 2016 Finding EMG: impaired neuromuscular transmission Human Phenotype Ontology C4022168 HP:0100285 16 Feb 2016 Finding EMG: incremental response of compound muscle action potential to repetitive nerve stimulation Human Phenotype Ontology C4022579 HP:0030206 16 Feb 2016 Finding EMG: myokymic discharges Human Phenotype Ontology C4022166 HP:0100288 16 Feb 2016 Finding EMG: myopathic abnormalities Human Phenotype Ontology C4021726 HP:0003458 16 Feb 2016 Finding EMG: myotonic discharges Human Phenotype Ontology C4022169 HP:0100284 16 Feb 2016 Finding EMG: myotonic runs Human Phenotype Ontology C4025576 HP:0003730 16 Feb 2016 Finding EMG: neuropathic changes Human Phenotype Ontology C4021727 HP:0003445 16 Feb 2016 Finding EMG: positive sharp waves Human Phenotype Ontology C0429349 HP:0030007 02 Apr 2017 Finding EMG: repetitive nerve stimulation abnormality Human Phenotype Ontology C4022681 HP:0030000 02 Apr 2017 Finding EMG: slow motor conduction Human Phenotype Ontology C4022167 HP:0100287 16 Feb 2016 Finding EMILIN-1-related connective tissue disease MONDO CN258445 MONDO:0044622 17 Apr 2020 Disease Emotional blunting Human Phenotype Ontology C0233469 HP:0030213 16 Feb 2016 Finding Emotional lability Human Phenotype Ontology CN000669 HP:0000712 16 Feb 2016 Finding Emphysema Human Phenotype Ontology C0034067 HP:0002097 16 Feb 2016 Finding Emphysema, congenital, with deafness, penoscrotal web, and mental retardation NCBI curation C1865180 602564 16 Feb 2016 Disease Emphysema, hereditary pulmonary NCBI curation C1851718 130700 16 Feb 2016 Disease Emphysematous cholecystitis MONDO C0521610 MONDO:0005742 17 Apr 2020 Disease Empty follicle syndrome NCBI curation C1328577 07 Sep 2017 Disease Empty ovarian follicle Human Phenotype Ontology C4476946 HP:0031067 04 Apr 2018 Finding Empty sella syndrome C0014008 16 Feb 2016 Disease Empyema MONDO C0014009 MONDO:0005242 04 Jun 2020 Infectious disease Enamel caries MONDO C0266853 MONDO:0002233 17 Apr 2020 Disease Enamel defects C2750331 13 Apr 2016 Finding Enamel hypoplasia cataract hydrocephaly 16 Feb 2016 Disease Enamel hypoplasia, cataracts, and aqueductal stenosis NCBI curation C1833163 600907 16 Feb 2016 Disease Enanthema Human Phenotype Ontology C0014034 HP:0030249 16 Feb 2016 Finding Encapsulated thymoma MONDO C1333383 MONDO:0002587 17 Apr 2020 Disease Encephalitis Human Phenotype Ontology C0014038 HP:0002383 16 Feb 2016 Finding Encephalitis due to human herpesvirus 6 infection C1955629 16 Feb 2016 Infectious disease Encephalitis lethargica C0014040 16 Feb 2016 Infectious disease ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION OMIM C4722446 618113 618113 13 Sep 2018 Disease Encephalitozoonosis MONDO C0085412 MONDO:0005743 04 Jun 2020 Infectious disease Encephalocardiomyopathy, mitochondrial NCBI curation C4016630 16 Feb 2016 Disease Encephalocele Human Phenotype Ontology C4551722 HP:0002084 16 Feb 2016 Finding Encephalocele anencephaly 16 Feb 2016 Disease Encephaloclastic disorder MONDO CN227080 MONDO:0017103 17 Apr 2020 Disease Encephalocraniocutaneous lipomatosis NCBI curation C0406612 613001 16 Feb 2016 Disease Encephalomalacia Human Phenotype Ontology C0014068 HP:0040197 02 Apr 2017 Finding Encephalomalacia, multilocular NCBI curation C1856991 225700 16 Feb 2016 Disease Encephalomyelitis C0014070 16 Feb 2016 Disease Encephalomyelitis, enzootic porcine MONDO C0014073 MONDO:0025062 04 Jun 2020 Infectious disease Encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency NCBI curation C3281106 614520 16 Feb 2016 Disease Encephalopathy Human Phenotype Ontology C1963101 HP:0001298 16 Feb 2016 Finding Encephalopathy due to defective mitochondrial and peroxisomal fission OMIM phenotypic series CN262498 PS614388 18 Jun 2017 Disease Encephalopathy due to defective mitochondrial and peroxisomal fission 1 NCBI curation C3280660 614388 18 Jun 2017 Disease Encephalopathy due to defective mitochondrial and peroxisomal fission 2 NCBI curation C4310726 617086 20 Jun 2017 Disease Encephalopathy due to sulfite oxidase deficiency MONDO C4275019 MONDO:0019358 17 Apr 2020 Disease Encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration 16 Feb 2016 Disease Encephalopathy progressive optic atrophy 16 Feb 2016 Disease Encephalopathy recurrent of childhood 16 Feb 2016 Disease Encephalopathy with Epilepsy CN852730 10 Mar 2018 Disease Encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration NCBI curation C1856973 225755 16 Feb 2016 Disease Encephalopathy, acute, infection-induced OMIM phenotypic series CN236791 PS610551 18 Jun 2016 Disease ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8 OMIM C4693542 617900 617900 16 Mar 2018 Disease Encephalopathy, acute, infection-induced, 3, suceptibility to NCBI curation C2675556 608033 16 Feb 2016 Disease Encephalopathy, acute, infection-induced, 4, susceptibility to NCBI curation C3280160 614212 16 Feb 2016 Disease ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 OMIM C5193089 618426 618426 20 Jun 2019 Disease Encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts NCBI curation C1856990 225740 16 Feb 2016 Disease Encephalopathy, familial progressive necrotizing NCBI curation C4016614 16 Feb 2016 Disease Encephalopathy, familial, with neuroserpin inclusion bodies NCBI curation C1858680 604218 26 May 2016 Disease Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 CN259001 12 Jun 2019 Disease ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES OMIM C4540052 617668 617668 17 Sep 2017 Disease Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome CN221284 16 Feb 2016 Disease Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum NCBI curation C4310671 617193 20 Jun 2017 Disease Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy OMIM phenotypic series CN263076 PS617186 26 Dec 2019 Disease Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 1 NCBI curation C4310675 617186 26 Dec 2019 Disease Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 NCBI curation C5193026 618321 26 Dec 2019 Disease ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS OMIM C5193033 618331 618331 24 Feb 2019 Disease Encephalopathy, progressive, with amyotrophy and optic atrophy NCBI curation C4310667 617207 20 Jun 2017 Disease Encephalopathy, progressive, with or without lipodystrophy NCBI curation C4014700 615924 16 Feb 2016 Disease Encephalopathy-basal ganglia-calcification 16 Feb 2016 Disease Enchondroma Human Phenotype Ontology C1704356 HP:0030038 16 Feb 2016 Disease Enchondromatosis NCBI curation C0014084 166000 16 Feb 2016 Disease Enchondromatosis dwarfism deafness 16 Feb 2016 Disease Encircling double aortic arch MONDO C4706940 MONDO:0020413 17 Apr 2020 Disease Encopresis Human Phenotype Ontology C2945606 HP:0040183 16 Feb 2016 Finding Encéphalopathie épileptique néonatale 13 Feb 2020 Finding End stage renal disease due to bilateral VUR CN235501 12 Mar 2016 Finding Endarteritis MONDO C0014100 MONDO:0043576 17 Apr 2020 Disease Endemic Kaposi sarcoma 16 Feb 2016 Disease Endemic typhus MONDO C0041472 MONDO:0000330 04 Jun 2020 Infectious disease Endemic tyrolean infantile cirrhosis NCBI curation 16 Feb 2016 Disease Endobronchial leiomyoma MONDO C1333386 MONDO:0003944 17 Apr 2020 Disease Endobronchial lipoma MONDO C0852937 MONDO:0000961 17 Apr 2020 Disease Endocapillary hypercellularity Human Phenotype Ontology C4476732 HP:0025363 02 Apr 2017 Finding Endocardial fibroelastosis Human Phenotype Ontology C0014117 HP:0001706 226000 16 Feb 2016 Disease Endocardial fibroelastosis and coarctation of abdominal aorta NCBI curation C1856971 226100 16 Feb 2016 Disease Endocardial fibrosis Human Phenotype Ontology C0553980 HP:0006685 16 Feb 2016 Finding Endocarditis Human Phenotype Ontology C0014118 HP:0100584 16 Feb 2016 Finding Endocarditis (disease) MONDO MONDO:0005025 17 Apr 2020 Disease Endocardium cancer MONDO C0346612 MONDO:0003687 17 Apr 2020 Disease Endocardium disease MONDO C0854140 MONDO:0000470 17 Apr 2020 Disease Endocervical adenocarcinoma MONDO C1263762 MONDO:0000554 17 Apr 2020 Disease Endocervical carcinoma MONDO C1299237 MONDO:0004259 17 Apr 2020 Disease Endocervical type cervical adenomyoma MONDO C1516405 MONDO:0004486 17 Apr 2020 Disease Endocervical type cervical mucinous adenocarcinoma MONDO C1516421 MONDO:0004538 17 Apr 2020 Disease Endocervicitis MONDO C0014127 MONDO:0003632 17 Apr 2020 Disease Endocrine (adult onset) CN232465 16 Feb 2016 Finding Endocrine (child onset) CN232539 16 Feb 2016 Finding Endocrine alopecia MONDO C0002176 MONDO:0021208 17 Apr 2020 Disease Endocrine Cancer C0153658 21 Mar 2018 Disease Endocrine exophthalmos MONDO C0155264 MONDO:0001509 17 Apr 2020 Disease Endocrine gland neoplasm MONDO MONDO:0002082 17 Apr 2020 Disease Endocrine pancreas disease MONDO C0271633 MONDO:0001933 17 Apr 2020 Disease Endocrine tuberculosis MONDO C0041310 MONDO:0006743 04 Jun 2020 Infectious disease Endocrine-cerebroosteodysplasia NCBI curation C2675227 612651 16 Feb 2016 Disease Endocrinological phenotype CN230739 16 Feb 2016 Finding Endocrinology CN282552 17 Jun 2020 Pharmacological response ENDOGENOUS RETROVIRAL POL-LIKE SEQUENCE-1 OMIM CN263253 131190 131190 08 Feb 2020 Disease Endolymphatic hydrops MONDO C0206586 MONDO:0006744 17 Apr 2020 Disease Endolymphatic sac tumor Human Phenotype Ontology C2348239 HP:0030393 16 Feb 2016 Finding Endolymphatic sac tumors (ELST's) in Von Hippel Lindau (VHL) disease 16 Feb 2016 Disease Endometrial adenosquamous carcinoma MONDO C3896969 MONDO:0003556 17 Apr 2020 Disease endometrial cancer CN235594 19 Mar 2016 Finding Endometrial carcinoma Human Phenotype Ontology C0476089 HP:0012114 608089 16 Feb 2016 Disease Endometrial clear cell adenocarcinoma MONDO C0279765 MONDO:0006191 17 Apr 2020 Disease Endometrial disease MONDO MONDO:0000931 17 Apr 2020 Disease Endometrial endometrioid adenocarcinoma MONDO C1336905 MONDO:0006192 17 Apr 2020 Disease Endometrial endometrioid adenocarcinoma with spindled epithelial cells MONDO C1336913 MONDO:0004220 17 Apr 2020 Disease Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation NCBI curation C0279763 02 Mar 2017 Disease Endometrial hyperplasia without atypia MONDO C1516855 MONDO:0006193 17 Apr 2020 Disease Endometrial mixed adenocarcinoma MONDO MONDO:0004321 17 Apr 2020 Disease Endometrial mucinous adenocarcinoma MONDO C1519859 MONDO:0002747 17 Apr 2020 Disease Endometrial neoplasm NCBI curation C0014170 16 Feb 2016 Disease Endometrial polyp MONDO C1704273 MONDO:0006195 17 Apr 2020 Disease Endometrial serous adenocarcinoma MONDO C0854924 MONDO:0006196 17 Apr 2020 Disease Endometrial small cell carcinoma MONDO C1516858 MONDO:0006197 17 Apr 2020 Disease Endometrial stromal nodule MONDO C0334485 MONDO:0001783 17 Apr 2020 Disease Endometrial stromal sarcoma 16 Feb 2016 Disease Endometrial stromal tumor MONDO C0334695 MONDO:0003311 17 Apr 2020 Disease Endometrial type cervical adenomyoma MONDO C1516406 MONDO:0004487 17 Apr 2020 Disease Endometrioid adenocarcinoma MONDO C0206687 MONDO:0005026 17 Apr 2020 Disease Endometrioid stromal and related neoplasms MONDO C4287868 MONDO:0037742 17 Apr 2020 Disease Endometrioid stromal and related neoplasms of the cervix MONDO C4289586 MONDO:0003031 17 Apr 2020 Disease Endometrioid stromal and related neoplasms of the vagina MONDO C4289585 MONDO:0003314 17 Apr 2020 Disease Endometrioid stromal sarcoma MONDO C0206630 MONDO:0006745 17 Apr 2020 Disease Endometrioid stromal sarcoma of the cervix MONDO C3642326 MONDO:0003030 17 Apr 2020 Disease Endometrioid stromal sarcoma of the vagina MONDO C3642329 MONDO:0003313 17 Apr 2020 Disease Endometrioid tumor NCBI curation C0474809 16 Feb 2016 Disease Endometriosis Human Phenotype Ontology C0014175 HP:0030127 16 Feb 2016 Finding Endometriosis (disease) MONDO MONDO:0005133 17 Apr 2020 Disease Endometriosis 1 NCBI curation C1851649 131200 16 Feb 2016 Disease Endometriosis in cutaneous scar MONDO C0156348 MONDO:0001287 17 Apr 2020 Disease Endometriosis of intestine MONDO C0156347 MONDO:0001284 17 Apr 2020 Disease Endometriosis of pelvic peritoneum MONDO C0156345 MONDO:0001285 17 Apr 2020 Disease Endometriosis of rectovaginal septum and vagina MONDO MONDO:0001288 17 Apr 2020 Disease Endometriosis of uterus MONDO C0341858 MONDO:0010888 600458 17 Apr 2020 Disease Endometritis MONDO C0014179 MONDO:0000918 17 Apr 2020 Disease Endometrium adenocarcinoma MONDO MONDO:0005461 17 Apr 2020 Disease Endometrium carcinoma in situ MONDO C0346191 MONDO:0003315 17 Apr 2020 Disease Endometrium neoplasm MONDO MONDO:0021251 17 Apr 2020 Disease Endomyocardial fibrosis 16 Feb 2016 Disease Endomyometritis MONDO C0269050 MONDO:0042451 17 Apr 2020 Disease Endophthalmitis MONDO C0014236 MONDO:0016047 04 Jun 2020 Infectious disease Endopolyploidy on chromosome studies of bone marrow Human Phenotype Ontology C4025624 HP:0003352 16 Feb 2016 Finding Endosalpingiosis MONDO C0269106 MONDO:0001283 17 Apr 2020 Disease Endothelial dystrophy, congenital hereditary, with nail hypoplasia NCBI curation C1856970 226110 16 Feb 2016 Disease Endotheliitis MONDO CN266165 MONDO:0015292 04 Jun 2020 Infectious disease Endothrix infectious disease MONDO CN281912 MONDO:0000244 04 Jun 2020 Infectious disease Endotoxin hyporesponsiveness NCBI curation C1864267 16 Feb 2016 Disease Endplate acetylcholinesterase deficiency NCBI curation C1864233 603034 16 Feb 2016 Disease Energy metabolism disorder with epilepsy MONDO CN226915 MONDO:0016401 17 Apr 2020 Disease Enflurane response CN263356 10 Mar 2020 Pharmacological response enflurane response - Toxicity/ADR PharmGKB 1183705797PA449461 28 Jun 2019 Pharmacological response Eng Strom syndrome 16 Feb 2016 Disease Engelhard Yatziv syndrome 16 Feb 2016 Disease Engraftment syndrome MONDO C0919746 MONDO:0043358 17 Apr 2020 Disease Enhanced memory NCBI curation 16 Feb 2016 Disease Enhanced neurotoxicity of vincristine Human Phenotype Ontology C4025661 HP:0003009 16 Feb 2016 Finding Enhanced ristocetin cofactor assay activity Human Phenotype Ontology C4022612 HP:0030136 16 Feb 2016 Finding Enhanced s-cone syndrome NCBI curation C1849394 268100 16 Feb 2016 Disease Enhancement of the C-reflex Human Phenotype Ontology C3552824 HP:0001340 16 Feb 2016 Finding enlarged adenohypophysis 22 Aug 2019 Finding Enlarged brainstem Human Phenotype Ontology C4022741 HP:0012755 16 Feb 2016 Finding Enlarged cavum septum pellucidum 03 Mar 2020 Finding Enlarged cerebellum Human Phenotype Ontology C3278024 HP:0012081 16 Feb 2016 Finding enlarged cervical lymph nodes 22 Oct 2019 Finding Enlarged cisterna magna Human Phenotype Ontology C1853377 HP:0002280 16 Feb 2016 Finding Enlarged cochlear aqueduct Human Phenotype Ontology C4021154 HP:0011388 16 Feb 2016 Finding Enlarged epiphyses Human Phenotype Ontology C1833328 HP:0010580 16 Feb 2016 Finding Enlarged epiphyses of the 2nd finger Human Phenotype Ontology C4024334 HP:0009491 16 Feb 2016 Finding Enlarged epiphyses of the 2nd toe Human Phenotype Ontology C4022374 HP:0100047 16 Feb 2016 Finding Enlarged epiphyses of the 3rd finger Human Phenotype Ontology C4024380 HP:0009413 16 Feb 2016 Finding Enlarged epiphyses of the 3rd toe Human Phenotype Ontology C4022363 HP:0100058 16 Feb 2016 Finding Enlarged epiphyses of the 4th finger Human Phenotype Ontology C4024394 HP:0009396 16 Feb 2016 Finding Enlarged epiphyses of the 4th toe Human Phenotype Ontology C4022352 HP:0100069 16 Feb 2016 Finding Enlarged epiphyses of the 5th finger Human Phenotype Ontology C4024404 HP:0009385 16 Feb 2016 Finding Enlarged epiphyses of the 5th toe Human Phenotype Ontology C4022341 HP:0100080 16 Feb 2016 Finding Enlarged epiphyses of the distal phalanges of the hand Human Phenotype Ontology C4023950 HP:0010249 16 Feb 2016 Finding Enlarged epiphyses of the hallux Human Phenotype Ontology C4024043 HP:0010116 16 Feb 2016 Finding Enlarged epiphyses of the middle phalanges of the hand Human Phenotype Ontology C4023941 HP:0010260 16 Feb 2016 Finding Enlarged epiphyses of the phalanges of the hand Human Phenotype Ontology C1865036 HP:0010231 16 Feb 2016 Finding Enlarged epiphyses of the proximal phalanges of the hand Human Phenotype Ontology C4023930 HP:0010271 16 Feb 2016 Finding Enlarged epiphyses of the toes Human Phenotype Ontology C4023994 HP:0010165 16 Feb 2016 Finding Enlarged epiphysis of the 1st metacarpal Human Phenotype Ontology C4024105 HP:0010018 16 Feb 2016 Finding Enlarged epiphysis of the 1st metatarsal Human Phenotype Ontology C4024007 HP:0010152 16 Feb 2016 Finding Enlarged epiphysis of the distal phalanx of the 2nd finger Human Phenotype Ontology C4024325 HP:0009505 16 Feb 2016 Finding Enlarged epiphysis of the distal phalanx of the 2nd toe Human Phenotype Ontology C4022318 HP:0100103 16 Feb 2016 Finding Enlarged epiphysis of the distal phalanx of the 3rd finger Human Phenotype Ontology C4024429 HP:0009338 16 Feb 2016 Finding Enlarged epiphysis of the distal phalanx of the 3rd toe Human Phenotype Ontology C4022283 HP:0100138 16 Feb 2016 Finding Enlarged epiphysis of the distal phalanx of the 4th finger Human Phenotype Ontology C4024494 HP:0009253 16 Feb 2016 Finding Enlarged epiphysis of the distal phalanx of the 4th toe Human Phenotype Ontology C4022249 HP:0100172 16 Feb 2016 Finding Enlarged epiphysis of the distal phalanx of the 5th finger Human Phenotype Ontology C4024572 HP:0009147 16 Feb 2016 Finding Enlarged epiphysis of the distal phalanx of the 5th toe Human Phenotype Ontology C4022216 HP:0100205 16 Feb 2016 Finding Enlarged epiphysis of the distal phalanx of the hallux Human Phenotype Ontology C4024018 HP:0010141 16 Feb 2016 Finding Enlarged epiphysis of the distal phalanx of the thumb Human Phenotype Ontology C4021408 HP:0009678 16 Feb 2016 Finding Enlarged epiphysis of the middle phalanx of the 2nd finger Human Phenotype Ontology C4024317 HP:0009516 16 Feb 2016 Finding Enlarged epiphysis of the middle phalanx of the 2nd toe Human Phenotype Ontology C4022307 HP:0100114 16 Feb 2016 Finding Enlarged epiphysis of the middle phalanx of the 3rd finger Human Phenotype Ontology C4024441 HP:0009324 16 Feb 2016 Finding Enlarged epiphysis of the middle phalanx of the 3rd toe Human Phenotype Ontology C4022272 HP:0100149 16 Feb 2016 Finding Enlarged epiphysis of the middle phalanx of the 4th finger Human Phenotype Ontology C4024524 HP:0009217 16 Feb 2016 Finding Enlarged epiphysis of the middle phalanx of the 4th toe Human Phenotype Ontology C4022238 HP:0100183 16 Feb 2016 Finding Enlarged epiphysis of the middle phalanx of the 5th finger Human Phenotype Ontology C4024534 HP:0009206 16 Feb 2016 Finding Enlarged epiphysis of the middle phalanx of the 5th toe Human Phenotype Ontology C4022205 HP:0100216 16 Feb 2016 Finding Enlarged epiphysis of the proximal phalanx of the 2nd finger Human Phenotype Ontology C4021455 HP:0009527 16 Feb 2016 Finding Enlarged epiphysis of the proximal phalanx of the 2nd toe Human Phenotype Ontology C4022296 HP:0100125 16 Feb 2016 Finding Enlarged epiphysis of the proximal phalanx of the 3rd finger Human Phenotype Ontology C4021488 HP:0009349 16 Feb 2016 Finding Enlarged epiphysis of the proximal phalanx of the 3rd toe Human Phenotype Ontology C4022261 HP:0100160 16 Feb 2016 Finding Enlarged epiphysis of the proximal phalanx of the 4th finger Human Phenotype Ontology C4024485 HP:0009264 16 Feb 2016 Finding Enlarged epiphysis of the proximal phalanx of the 4th toe Human Phenotype Ontology C4022227 HP:0100194 16 Feb 2016 Finding Enlarged epiphysis of the proximal phalanx of the 5th finger Human Phenotype Ontology C4024566 HP:0009158 16 Feb 2016 Finding Enlarged epiphysis of the proximal phalanx of the 5th toe Human Phenotype Ontology C4022194 HP:0100227 16 Feb 2016 Finding Enlarged epiphysis of the proximal phalanx of the hallux Human Phenotype Ontology C4024029 HP:0010130 16 Feb 2016 Finding Enlarged epiphysis of the proximal phalanx of the thumb Human Phenotype Ontology C4024250 HP:0009667 16 Feb 2016 Finding Enlarged Eustachian valve Human Phenotype Ontology C4703429 HP:0031591 04 Apr 2018 Finding Enlarged fetal cisterna magna Human Phenotype Ontology C4023365 HP:0011427 16 Feb 2016 Finding Enlarged flash visual evoked potentials Human Phenotype Ontology C4021558 HP:0008045 16 Feb 2016 Finding Enlarged fossa interpeduncularis Human Phenotype Ontology C4020922 HP:0100951 16 Feb 2016 Finding Enlarged hippocampus Human Phenotype Ontology C4021908 HP:0100961 16 Feb 2016 Finding Enlarged humeral metaphyses Human Phenotype Ontology C4021707 HP:0003910 16 Feb 2016 Finding Enlarged interhemispheric fissure Human Phenotype Ontology C4020920 HP:0100953 16 Feb 2016 Finding Enlarged interphalangeal joints Human Phenotype Ontology C1859701 HP:0006247 16 Feb 2016 Finding Enlarged joints Human Phenotype Ontology C1859111 HP:0003037 16 Feb 2016 Finding Enlarged kidney Human Phenotype Ontology C0542518 HP:0000105 02 Apr 2017 Finding Enlarged kidneys 22 Jun 2020 Finding Enlarged labia minora Human Phenotype Ontology C1849358 HP:0008683 16 Feb 2016 Finding Enlarged lacrimal glands Human Phenotype Ontology C1867030 HP:0007734 16 Feb 2016 Finding enlarged left ectopic kidney 22 Oct 2019 Finding Enlarged mesenteric lymph node Human Phenotype Ontology C4476563 HP:0025043 02 Apr 2017 Finding Enlarged metacarpal epiphyses Human Phenotype Ontology C1865035 HP:0006134 16 Feb 2016 Finding Enlarged metacarpophalangeal joints Human Phenotype Ontology C1859700 HP:0006163 16 Feb 2016 Finding Enlarged metaphyses Human Phenotype Ontology C1855544 HP:0003051 16 Feb 2016 Finding Enlarged naris Human Phenotype Ontology C0426440 HP:0009931 16 Feb 2016 Finding Enlarged ovaries Human Phenotype Ontology C0392039 HP:0100879 16 Feb 2016 Finding Enlarged parietal foramina Orphanet C1868598 ORPHA60015 08 Oct 2018 Disease Enlarged peripheral nerve Human Phenotype Ontology C2675074 HP:0012645 16 Feb 2016 Finding Enlarged pituitary gland Human Phenotype Ontology C0342422 HP:0012505 16 Feb 2016 Finding Enlarged polycystic ovaries Human Phenotype Ontology C4024641 HP:0008675 16 Feb 2016 Finding Enlarged proximal interphalangeal joints Human Phenotype Ontology C1861350 HP:0006185 16 Feb 2016 Finding Enlarged pulmonary artery 22 Jun 2020 Finding Enlarged right ventricle 22 Jun 2020 Finding Enlarged sagittal diameter of the cervical canal Human Phenotype Ontology C4025118 HP:0005878 16 Feb 2016 Finding Enlarged semicircular canal Human Phenotype Ontology C4021156 HP:0011383 16 Feb 2016 Finding Enlarged Spleen CN238738 19 Oct 2016 Finding Enlarged sylvian cistern Human Phenotype Ontology C4020921 HP:0100952 16 Feb 2016 Finding Enlarged thalamic volume Human Phenotype Ontology C4022772 HP:0012694 16 Feb 2016 Finding Enlarged thorax Human Phenotype Ontology C4020962 HP:0100625 16 Feb 2016 Finding Enlarged thumb epiphysis Human Phenotype Ontology C4021406 HP:0009689 16 Feb 2016 Finding Enlarged tonsils Human Phenotype Ontology C0272386 HP:0030812 02 Apr 2017 Finding Enlarged uterus Human Phenotype Ontology C0151994 HP:0100878 16 Feb 2016 Finding Enlarged vertebral pedicles Human Phenotype Ontology C4025303 HP:0004621 16 Feb 2016 Finding Enlarged vestibular aqueduct Human Phenotype Ontology C3538946 HP:0011387 600791 19 Mar 2018 Disease Enlarged vestibular aqueduct, digenic CN260086 20 Jun 2019 Disease Enlarged-cystic kidneys 15 Mar 2018 Finding Enlarged-cystic kidneys with severely impaired renal function at birth 19 Jul 2018 Finding Enlargement of parotid gland Human Phenotype Ontology C0341047 HP:0011801 16 Feb 2016 Finding Enlargement of the ankles Human Phenotype Ontology C1838664 HP:0003029 16 Feb 2016 Finding Enlargement of the cisterna magna 23 Jan 2020 Finding Enlargement of the costochondral junction Human Phenotype Ontology C1857180 HP:0000920 16 Feb 2016 Finding Enlargement of the distal femoral epiphysis Human Phenotype Ontology C1843105 HP:0006438 16 Feb 2016 Finding Enlargement of the proximal femoral epiphysis Human Phenotype Ontology C1859697 HP:0003371 16 Feb 2016 Finding Enlargement of the wrists Human Phenotype Ontology C1838663 HP:0003020 16 Feb 2016 Finding ENOLASE ALPHA, LUNG-SPECIFIC OMIM CN263302 607098 607098 26 Feb 2020 Disease Enolase deficiency type 1 16 Feb 2016 Disease Enolase deficiency type 2 16 Feb 2016 Disease Enolase deficiency type 3 16 Feb 2016 Disease Enolase deficiency type 4 16 Feb 2016 Disease Enolase, sperm specific MONDO C3888311 MONDO:0007543 17 Apr 2020 Disease Enophthalmia 23 Jan 2020 Finding Enoplea infectious disease MONDO CN281775 MONDO:0005745 04 Jun 2020 Infectious disease ENPP1-Related Disorders 23 May 2019 Disease Entacapone response NCBI curation CN227913 16 Feb 2016 Pharmacological response Enteric intraneuronal nuclear inclusion bodies Human Phenotype Ontology C4476867 HP:0030938 02 Apr 2017 Finding Enteric neuronal degeneration Human Phenotype Ontology C4293668 HP:0025030 02 Apr 2017 Finding Enteric pattern testicular yolk sac tumor MONDO C1515304 MONDO:0004543 17 Apr 2020 Disease Enteritis MONDO C0014335 MONDO:0043579 17 Apr 2020 Disease Enterobiasis C0086227 16 Feb 2016 Infectious disease Enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor MONDO C0345933 MONDO:0024504 17 Apr 2020 Disease enterococcus as the cause of diseases classified elsewhere 05 Sep 2019 Finding enterococcus as the cause of diseases classified elsewhere (PANDAS) 05 Sep 2019 Finding Enterococcus faecalis infection MONDO CN281752 MONDO:0005121 04 Jun 2020 Infectious disease Enterocolitis Human Phenotype Ontology C0014356 HP:0004387 226150 16 Feb 2016 Disease Enterokinase deficiency NCBI curation C0268416 226200 16 Feb 2016 Disease Enteropathica 16 Feb 2016 Disease Enteropathy, familial, with villous edema and immunoglobulin g2 deficiency NCBI curation C1838238 600351 16 Feb 2016 Disease Enteropathy-associated T-cell lymphoma C0456889 16 Feb 2016 Disease Enterotoxemia MONDO C0014371 MONDO:0006747 17 Apr 2020 Disease Enteroviral dermatomyositis syndrome Human Phenotype Ontology C3806660 HP:0003729 16 Feb 2016 Finding Enteroviral hepatitis Human Phenotype Ontology C1843995 HP:0001412 16 Feb 2016 Finding Enterovirus antenatal infection CN281943 16 Feb 2016 Infectious disease Enterovirus infectious disease MONDO C0014378 MONDO:0005747 04 Jun 2020 Infectious disease Enthesitis Human Phenotype Ontology C1282952 HP:0100686 16 Feb 2016 Finding Enthesitis-related juvenile idiopathic arthritis MONDO C3495919 MONDO:0019437 17 Apr 2020 Disease Enthesopathy MONDO C0242490 MONDO:0002183 17 Apr 2020 Disease Entrapment neuropathy Human Phenotype Ontology C1510429 HP:0012181 16 Feb 2016 Finding Entrapment neuropathy of suprascapular nerve Human Phenotype Ontology C0393890 HP:0012216 16 Feb 2016 Finding Entrapment neuropathy of the ulnar nerve at elbow Human Phenotype Ontology C4023008 HP:0012186 16 Feb 2016 Finding Entropion Human Phenotype Ontology C0014390 HP:0000621 16 Feb 2016 Finding Enuresis Human Phenotype Ontology C0014394 HP:0000805 16 Feb 2016 Finding Enuresis diurna Human Phenotype Ontology C4023746 HP:0010678 16 Feb 2016 Finding Enuresis, nocturnal, 2 NCBI curation C1833268 600808 16 Feb 2016 Disease Envenomization by bothrops lanceolatus 16 Feb 2016 Disease Envenomization by the Martinique lancehead viper 16 Feb 2016 Disease Environment associated hypertension 16 Feb 2016 Disease Enzootic pneumonia of calves MONDO C0276046 MONDO:0005748 04 Jun 2020 Infectious disease Enzyme activity finding NCBI curation C1827841 16 Feb 2016 Finding Eosinophil disease MONDO C1691020 MONDO:0044972 17 Apr 2020 Disease Eosinophil peroxidase deficiency NCBI curation C1850000 261500 17 Apr 2016 Disease Eosinophilia Human Phenotype Ontology C0014457 HP:0001880 16 Feb 2016 Finding Eosinophilia myalgia syndrome 16 Feb 2016 Disease Eosinophilic angiocentric fibrosis CN266173 16 Feb 2016 Disease Eosinophilic cellulitis C0343101 16 Feb 2016 Disease Eosinophilic colitis MONDO C0267448 MONDO:0018439 17 Apr 2020 Disease Eosinophilic cryptitis 16 Feb 2016 Disease Eosinophilic cystitis 16 Feb 2016 Disease Eosinophilic esophagitis C4551589 610247 16 Feb 2016 Disease Eosinophilic gastroenteritis MONDO C1262481 MONDO:0016129 28 May 2020 Disease Eosinophilic gastrointestinal disease CN269802 27 Sep 2018 Finding Eosinophilic granuloma MONDO C0014461 MONDO:0020517 17 Apr 2020 Disease Eosinophilic granulomatosis with polyangiitis MONDO C0008728 MONDO:0015943 17 Apr 2020 Disease Eosinophilic meningitis MONDO C0154652 MONDO:0001015 17 Apr 2020 Disease Eosinophilic pneumonia MONDO C1527407 MONDO:0005749 22 Apr 2020 Infectious disease Eosinophilic pustular folliculitis C0406305 16 Feb 2016 Disease Eosinophilic variant of chromophobe renal cell carcinoma MONDO C1333405 MONDO:0003942 17 Apr 2020 Disease Eosinophilopenia NCBI curation C1851586 131430 16 Feb 2016 Disease EPB42-Related Hereditary Spherocytosi CN257766 02 Nov 2018 Disease Ependymal cyst C0338599 23 Jan 2020 Finding Ependymal tumor of brain MONDO C0238029 MONDO:0004245 17 Apr 2020 Disease Ependymal tumor of spinal cord MONDO C4318747 MONDO:0021546 17 Apr 2020 Disease Ependymoblastoma Human Phenotype Ontology C0700367 HP:0030066 16 Feb 2016 Disease Ependymoma Human Phenotype Ontology C0014474 HP:0002888 16 Feb 2016 Disease Ephemeral fever MONDO C0014481 MONDO:0005750 17 Apr 2020 Disease Epiblepharon Human Phenotype Ontology C0344503 HP:0011225 16 Feb 2016 Finding Epiblepharon of lower lid Human Phenotype Ontology C1851583 HP:0040151 131450 16 Feb 2016 Disease Epiblepharon of upper lid Human Phenotype Ontology C1851582 HP:0040150 131460 16 Feb 2016 Disease Epibulbar dermoid Human Phenotype Ontology C1867616 HP:0001140 16 Feb 2016 Finding Epibulbar lipodermoid-preauricular appendage-polythelia syndrome MONDO CN226948 MONDO:0016510 17 Apr 2020 Disease Epicanthic fold 26 Sep 2019 Finding Epicanthus NCBI curation C0678230 131500 16 Feb 2016 Disease Epicanthus inversus Human Phenotype Ontology C1303003 HP:0000537 16 Feb 2016 Finding Epicardium cancer MONDO C2607932 MONDO:0003104 17 Apr 2020 Disease Epicardium lipoma MONDO C1333411 MONDO:0003840 17 Apr 2020 Disease Epicondylitis MONDO C0014488 MONDO:0001875 17 Apr 2020 Disease Epidemic encephalitis 16 Feb 2016 Disease Epidemic encephalomyelitis 16 Feb 2016 Disease Epidemic keratoconjunctivitis MONDO C0014493 MONDO:0001615 04 Jun 2020 Infectious disease Epidemic louse-borne typhus MONDO C0041473 MONDO:0019362 04 Jun 2020 Infectious disease Epidemic pleurodynia MONDO C0032238 MONDO:0005751 04 Jun 2020 Infectious disease Epidermal acanthosis Human Phenotype Ontology C0221270 HP:0025092 02 Apr 2017 Finding Epidermal appendage anomaly MONDO CN205924 MONDO:0019277 17 Apr 2020 Disease Epidermal hyperkeratosis Human Phenotype Ontology C1848773 HP:0007543 16 Feb 2016 Finding Epidermal nevus Human Phenotype Ontology C0334082 HP:0010816 162900 16 Feb 2016 Disease Epidermal nevus syndrome NCBI curation C0265318 163200 16 Feb 2016 Disease Epidermal nevus vitamin D resistant rickets 16 Feb 2016 Disease Epidermal nevus with urothelial cancer, somatic NCBI curation C3277679 13 Dec 2018 Disease Epidermal thickening Human Phenotype Ontology C0494876 HP:0011368 16 Feb 2016 Finding Epidermitis, exudative, of swine MONDO C0014521 MONDO:0025066 17 Apr 2020 Disease Epidermodysplasia verruciformis NCBI curation C0014522 27 Jan 2020 Disease EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 OMIM C4722564 226400 226400 27 Jan 2020 Disease EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2 OMIM C4722258 618231 618231 03 Feb 2019 Disease EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 OMIM C4748876 618267 618267 03 Feb 2019 Disease EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4 OMIM C4749042 618307 618307 03 Feb 2019 Disease EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5 OMIM C4749043 618309 618309 03 Feb 2019 Disease Epidermodysplasia verruciformis, X-linked NCBI curation C1844589 305350 16 Feb 2016 Disease Epidermoid cyst Human Phenotype Ontology CN117781 HP:0200040 04 Apr 2018 Finding Epidermoid cysts NCBI curation C0014511 131600 16 Feb 2016 Disease Epidermoid with cystic CSF accumulation in left posterior fossa 23 Jan 2020 Finding Epidermolysis bullosa C0014527 16 Feb 2016 Disease Epidermolysis bullosa dystrophica inversa, autosomal recessive NCBI curation C2673612 16 Feb 2016 Disease Epidermolysis bullosa dystrophica with subcorneal cleavage NCBI curation 16 Feb 2016 Disease Epidermolysis bullosa dystrophica, AD, Epidermolysis bullosa dystrophica, AR CN228812 16 Feb 2016 Disease Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant NCBI curation C2673611 16 Feb 2016 Disease Epidermolysis bullosa dystrophica, autosomal recessive, modifier of NCBI curation C2675760 14 Aug 2018 Disease Epidermolysis bullosa intraepidermic 16 Feb 2016 Disease Epidermolysis bullosa junctionalis with pyloric atresia NCBI curation C1856934 226730 28 Feb 2017 Disease Epidermolysis bullosa pruriginosa C1275114 604129 16 Feb 2016 Disease Epidermolysis bullosa pruriginosa, autosomal dominant NCBI curation C2675780 16 Feb 2016 Disease Epidermolysis bullosa pruriginosa, autosomal recessive NCBI curation C1853063 16 Feb 2016 Disease Epidermolysis bullosa simplex C0079298 16 Feb 2016 Disease Epidermolysis bullosa simplex Dowling-Meara type MONDO C0079295 MONDO:0007550 131760 22 Apr 2020 Disease Epidermolysis bullosa simplex due to plakophilin deficiency MONDO C1858302 MONDO:0011472 604536 17 Apr 2020 Disease Epidermolysis bullosa simplex superficialis NCBI curation C1843477 607600 16 Feb 2016 Disease Epidermolysis bullosa simplex with anodontia/hypodontia MONDO C0432313 MONDO:0016514 17 Apr 2020 Disease Epidermolysis bullosa simplex with migratory circinate erythema NCBI curation C1836284 609352 16 Feb 2016 Disease Epidermolysis bullosa simplex with mottled pigmentation C0432316 131960 16 Feb 2016 Disease Epidermolysis bullosa simplex with muscular dystrophy MONDO C2931072 MONDO:0009181 226670 22 Apr 2020 Disease Epidermolysis bullosa simplex with nail dystrophy NCBI curation C4225309 616487 16 Feb 2016 Disease Epidermolysis bullosa simplex with pyloric atresia NCBI curation C2677349 612138 16 Feb 2016 Disease Epidermolysis bullosa simplex, autosomal recessive NCBI curation C3715082 601001 16 Feb 2016 Disease Epidermolysis bullosa simplex, autosomal recessive 2 NCBI curation C3809470 615425 16 Feb 2016 Disease Epidermolysis bullosa simplex, Dowling-Meara type, with severe palmoplantar keratoderma NCBI curation C4016235 16 Feb 2016 Disease Epidermolysis bullosa simplex, generalized, with scarring and hair loss NCBI curation C4310631 617294 20 Jun 2017 Disease Epidermolysis bullosa simplex, generalized, with severe palmoplantar keratosis NCBI curation C4016236 16 Feb 2016 Disease Epidermolysis bullosa simplex, Koebner type NCBI curation C0079299 131900 16 Feb 2016 Disease Epidermolysis bullosa simplex, Ogna type C0432317 131950 16 Feb 2016 Disease Epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase NCBI curation C1851570 131880 16 Feb 2016 Disease Epidermolysis bullosa with diaphragmatic hernia NCBI curation C1856933 226735 16 Feb 2016 Disease Epidermolysis bullosa, dermolytic 16 Feb 2016 Disease Epidermolysis bullosa, junctional, localisata variant NCBI curation C2608084 16 Feb 2016 Disease Epidermolysis bullosa, junctional, with pyloric atrophy 16 Feb 2016 Disease Epidermolysis bullosa, nonspecific, autosomal recessive NCBI curation C3554367 615028 16 Feb 2016 Disease Epidermolysis bullosa, pretibial, autosomal recessive NCBI curation C4015945 16 Feb 2016 Disease Epidermolytic acanthoma MONDO C1333414 MONDO:0002962 17 Apr 2020 Disease Epidermolytic hyperkeratosis, late-onset NCBI curation C1862005 16 Feb 2016 Disease Epidermolytic nevus MONDO C1302848 MONDO:0044656 17 Apr 2020 Disease Epidermolytic palmoplantar keratoderma MONDO C1721006 MONDO:0007758 144200 17 Apr 2020 Disease Epididymal adenocarcinoma MONDO C1510784 MONDO:0001017 17 Apr 2020 Disease Epididymal adenomatoid tumor MONDO C1333415 MONDO:0004227 17 Apr 2020 Disease Epididymal cyst Human Phenotype Ontology C0037859 HP:0030424 16 Feb 2016 Finding Epididymal neoplasm Human Phenotype Ontology C0346239 HP:0030421 16 Feb 2016 Finding Epididymis cancer MONDO C0153602 MONDO:0001016 17 Apr 2020 Disease Epididymitis Human Phenotype Ontology C0014534 HP:0000031 16 Feb 2016 Infectious disease Epididymo-orchitis MONDO C0149881 MONDO:0004778 04 Jun 2020 Infectious disease Epidural abscess MONDO C0270629 MONDO:0005752 17 Apr 2020 Disease Epidural hemorrhage Human Phenotype Ontology C0238154 HP:0100310 16 Feb 2016 Finding Epidural spinal canal angiolipoma MONDO C1333416 MONDO:0002712 17 Apr 2020 Disease Epidural spinal canal meningioma MONDO C1333417 MONDO:0002778 17 Apr 2020 Disease Epidural spinal canal neoplasm MONDO C0014536 MONDO:0002713 17 Apr 2020 Disease Epigastric auras Human Phenotype Ontology C4023506 HP:0011159 16 Feb 2016 Finding Epigastric pain Human Phenotype Ontology C0232493 HP:0410019 04 Apr 2018 Finding Epiglottis cancer MONDO MONDO:0004473 17 Apr 2020 Disease Epiglottis neoplasm MONDO C1290353 MONDO:0004109 17 Apr 2020 Disease Epiglottitis MONDO C0014541 MONDO:0005753 17 Apr 2020 Disease Epignathus Human Phenotype Ontology C0266725 HP:0030767 02 Apr 2017 Finding Epilepsia partialis continua Human Phenotype Ontology C0085543 HP:0012847 16 Feb 2016 Finding Epilepsy C0014544 06 Jul 2018 Disease Epilepsy and/or ataxia with myoclonus as major feature MONDO CN261764 MONDO:0017653 17 Apr 2020 Disease Epilepsy benign neonatal dominant form 16 Feb 2016 Disease Epilepsy benign neonatal recessive form 16 Feb 2016 Disease Epilepsy due to perinatal stroke NCBI curation C4511427 12 Sep 2018 Disease epilepsy intractable withoutut status epilepticus 05 Sep 2019 Finding Epilepsy mental deterioration Finnish type 16 Feb 2016 Disease Epilepsy microcephaly skeletal dysplasia 16 Feb 2016 Disease epilepsy not intractable without status epilepticus 05 Sep 2019 Finding epilepsy not intractible 05 Sep 2019 Finding Epilepsy of infancy with migrating focal seizures MONDO C4518639 MONDO:0100025 17 Apr 2020 Disease Epilepsy with generalized tonic-clonic seizures MONDO C0014549 MONDO:0005754 17 Apr 2020 Disease Epilepsy with grand mal seizures on awakening C2750893 607628 16 Feb 2016 Disease Epilepsy with myoclonic absences MONDO C0393703 MONDO:0019487 17 Apr 2020 Disease Epilepsy with myoclono-astatic crisis 16 Feb 2016 Disease epilepsy without status epilepticus 05 Sep 2019 Finding Epilepsy, benign neonatal, 1, and/or myokymia NCBI curation 16 Feb 2016 Disease Epilepsy, childhood absence 1 NCBI curation C1838604 600131 16 Feb 2016 Disease Epilepsy, childhood absence 2 NCBI curation C1843244 607681 16 Feb 2016 Disease Epilepsy, childhood absence 4 NCBI curation C1970160 16 Feb 2016 Disease Epilepsy, childhood absence 5 NCBI curation C2677087 612269 16 Feb 2016 Disease Epilepsy, childhood absence 6 NCBI curation C2749872 611942 16 Feb 2016 Disease Epilepsy, childhood absence, JRK related CN240376 31 Jan 2017 Disease Epilepsy, early-onset, vitamin b6-dependent NCBI curation C4310632 617290 20 Jun 2017 Disease EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY OMIM CN272918 618832 618832 10 Apr 2020 Disease Epilepsy, familial adult myoclonic 2 NCBI curation C1842852 607876 16 Feb 2016 Disease Epilepsy, familial adult myoclonic, 1 NCBI curation C1832841 601068 16 Feb 2016 Disease Epilepsy, familial adult myoclonic, 3 NCBI curation C3150860 613608 16 Feb 2016 Disease Epilepsy, familial adult myoclonic, 4 NCBI curation C3554560 615127 16 Feb 2016 Disease Epilepsy, familial adult myoclonic, 5 NCBI curation C3809374 615400 16 Feb 2016 Disease EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6 OMIM C4748079 618074 618074 03 Aug 2018 Disease EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7 OMIM C4748080 618075 618075 03 Aug 2018 Disease Epilepsy, familial focal, with variable foci 1 NCBI curation C4551983 604364 20 Jun 2017 Disease Epilepsy, familial focal, with variable foci 2 NCBI curation C4310709 617116 20 Jun 2017 Disease Epilepsy, familial focal, with variable foci 3 NCBI curation C4310708 617118 20 Jun 2017 Disease Epilepsy, familial focal, with variable foci 4 NCBI curation C4693694 617935 11 Jan 2020 Disease Epilepsy, familial temporal lobe, 3 NCBI curation C1968848 611630 24 Aug 2016 Disease Epilepsy, familial temporal lobe, 4 NCBI curation C1968847 611631 16 Feb 2016 Disease Epilepsy, familial temporal lobe, 5 NCBI curation C3280730 614417 16 Feb 2016 Disease Epilepsy, familial temporal lobe, 6 NCBI curation C3810320 615697 16 Feb 2016 Disease Epilepsy, familial temporal lobe, 7 NCBI curation C4225327 616436 16 Feb 2016 Disease Epilepsy, familial temporal lobe, 8 NCBI curation C4225318 616461 16 Feb 2016 Disease Epilepsy, focal, SCN3A related CN240377 31 Jan 2017 Disease Epilepsy, focal, with speech disorder and with or without mental retardation NCBI curation C3806402 245570 24 Aug 2016 Disease Epilepsy, hearing loss, and mental retardation syndrome NCBI curation C4225276 616577 16 Feb 2016 Disease Epilepsy, hot water, 2 NCBI curation C3150536 613340 16 Feb 2016 Disease Epilepsy, idiopathic generalized 1 NCBI curation 16 Feb 2016 Disease Epilepsy, idiopathic generalized 10 NCBI curation C2751603 613060 16 Feb 2016 Disease Epilepsy, idiopathic generalized 2 NCBI curation C1846992 606972 16 Feb 2016 Disease Epilepsy, idiopathic generalized 3 NCBI curation C1837468 608762 16 Feb 2016 Disease Epilepsy, idiopathic generalized 4 NCBI curation C1857851 609750 16 Feb 2016 Disease Epilepsy, idiopathic generalized 5 NCBI curation C2677808 611934 16 Feb 2016 Disease Epilepsy, idiopathic generalized 6 NCBI curation C2677793 16 Feb 2016 Disease Epilepsy, idiopathic generalized 7 NCBI curation C2751729 604827 16 Feb 2016 Disease Epilepsy, idiopathic generalized 8 NCBI curation C2752062 612899 16 Feb 2016 Disease Epilepsy, idiopathic generalized 9 NCBI curation C2750887 607682 16 Feb 2016 Disease Epilepsy, idiopathic generalized, susceptibility to NCBI curation 16 Feb 2016 Disease Epilepsy, idiopathic generalized, susceptibility to, 12 NCBI curation C3553859 614847 16 Feb 2016 Disease Epilepsy, idiopathic generalized, susceptibility to, 14 NCBI curation C4225245 616685 16 Feb 2016 Disease Epilepsy, idiopathic generalized, susceptibility to, 15 NCBI curation C5193050 618357 18 Mar 2019 Disease EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16 OMIM C5231421 618596 618596 28 Sep 2019 Disease Epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 8 NCBI curation 16 Feb 2016 Disease Epilepsy, juvenile absence 2 NCBI curation C2750895 16 Feb 2016 Disease Epilepsy, juvenile absence, susceptibility to, 1 NCBI curation C2750892 607631 02 Jan 2020 Disease Epilepsy, juvenile myoclonic 5 NCBI curation C4013473 611136 16 Feb 2016 Disease Epilepsy, juvenile myoclonic 6 NCBI curation C2750888 16 Feb 2016 Disease Epilepsy, juvenile myoclonic 7 NCBI curation C2751604 16 Feb 2016 Disease Epilepsy, juvenile myoclonic 8 NCBI curation C2750894 16 Feb 2016 Disease Epilepsy, juvenile myoclonic 9 NCBI curation C3280332 614280 16 Feb 2016 Disease Epilepsy, juvenile myoclonic, susceptibility to CN260081 20 Jun 2019 Disease EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10 OMIM C4693613 617924 617924 06 Apr 2018 Disease Epilepsy, mitochondrial NCBI curation C4016624 16 Feb 2016 Disease Epilepsy, nocturnal frontal lobe, 5 NCBI curation C3554306 615005 16 Feb 2016 Disease Epilepsy, nocturnal frontal lobe, type 1 NCBI curation C1838049 600513 16 Feb 2016 Disease Epilepsy, nocturnal frontal lobe, type 2 NCBI curation C1864125 603204 16 Feb 2016 Disease Epilepsy, nocturnal frontal lobe, type 3 NCBI curation C1854335 605375 16 Feb 2016 Disease Epilepsy, nocturnal frontal lobe, type 4 NCBI curation C1835905 610353 16 Feb 2016 Disease Epilepsy, partial, familial 16 Feb 2016 Disease Epilepsy, partial, with pericentral spikes NCBI curation C1846609 607221 16 Feb 2016 Disease Epilepsy, photogenic, with spastic diplegia and mental retardation NCBI curation C1856931 226800 16 Feb 2016 Disease Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) CN233037 16 Feb 2016 Disease Epilepsy, progressive myoclonic 2A (Lafora) CN260079 20 Jun 2019 Disease Epilepsy, progressive myoclonic 2b NCBI curation C1850764 16 Feb 2016 Disease Epilepsy, progressive myoclonic 2B (Lafora) CN260080 20 Jun 2019 Disease Epilepsy, progressive myoclonic 3 NCBI curation C2673257 611726 16 Feb 2016 Disease Epilepsy, progressive myoclonic 4, with or without renal failure NCBI curation C0751779 254900 16 Feb 2016 Disease Epilepsy, progressive myoclonic 5 NCBI curation C5190799 16 Feb 2016 Disease Epilepsy, progressive myoclonic 6 NCBI curation C3279627 614018 16 Feb 2016 Disease Epilepsy, progressive myoclonic 7 NCBI curation C4015420 616187 16 Feb 2016 Disease Epilepsy, progressive myoclonic 8 NCBI curation C4015619 616230 16 Feb 2016 Disease Epilepsy, progressive myoclonic, 10 NCBI curation C4225258 616640 16 Feb 2016 Disease EPILEPSY, PROGRESSIVE MYOCLONIC, 11 OMIM CN280919 618876 618876 14 May 2020 Disease Epilepsy, progressive myoclonic, 3, with intracellular inclusions NCBI curation C4017260 23 Oct 2016 Disease Epilepsy, progressive myoclonic, 9 NCBI curation C4225289 616540 16 Feb 2016 Disease Epilepsy, progressive myoclonic, with sensory ataxic neuropathy CN235674 26 May 2016 Disease Epilepsy, X-linked, with variable learning disabilities and behavior disorders NCBI curation C1845343 300491 16 Feb 2016 Disease Epilepsy-telangiectasia syndrome MONDO C1856929 MONDO:0009188 226850 17 Apr 2020 Disease Epileptic encephalopathy Human Phenotype Ontology C0543888 HP:0200134 16 Feb 2016 Finding Epileptic encephalopathy Lennox-Gastaut type C3807541 606369 16 Feb 2016 Disease Epileptic encephalopathy, childhood-onset NCBI curation C3809278 615369 16 Feb 2016 Disease epileptic encephalopathy, early infanitle, 1 CN221281 16 Feb 2016 Disease Epileptic encephalopathy, early infantile, 1 NCBI curation C3463992 308350 16 Feb 2016 Disease Epileptic encephalopathy, early infantile, 19 NCBI curation C3810400 615744 16 Feb 2016 Disease Epileptic encephalopathy, early infantile, 23 NCBI curation C4014492 615859 16 Feb 2016 Disease Epileptic encephalopathy, early infantile, 24 NCBI curation C4014531 615871 16 Feb 2016 Disease Epileptic encephalopathy, early infantile, 25 NCBI curation C4014621 615905 16 Feb 2016 Disease Epileptic encephalopathy, early infantile, 26 NCBI curation C4015119 616056 16 Feb 2016 Disease Epileptic encephalopathy, early infantile, 27 NCBI curation C4015316 616139 16 Feb 2016 Disease Epileptic encephalopathy, early infantile, 28 NCBI curation C4015519 616211 16 Feb 2016 Disease Epileptic encephalopathy, early infantile, 29 NCBI curation C4225361 616339 16 Feb 2016 Disease Epileptic encephalopathy, early infantile, 30 NCBI curation C4225360 616341 16 Feb 2016 Disease Epileptic encephalopathy, early infantile, 31 NCBI curation C4225357 616346 16 Feb 2016 Disease Epileptic encephalopathy, early infantile, 32 NCBI curation C4225350 616366 16 Feb 2016 Disease Epileptic encephalopathy, early infantile, 33 NCBI curation C4225337 616409 16 Feb 2016 Disease Epileptic encephalopathy, early infantile, 35 NCBI curation C4225256 616647 16 Feb 2016 Disease Epileptic encephalopathy, early infantile, 36 NCBI curation C3550904 300884 24 Aug 2016 Disease Epileptic encephalopathy, early infantile, 37 NCBI curation C4310770 616981 04 Sep 2016 Disease Epileptic encephalopathy, early infantile, 38 NCBI curation C4310762 617020 24 Aug 2016 Disease Epileptic encephalopathy, early infantile, 40 NCBI curation C4310737 617065 24 Aug 2016 Disease Epileptic encephalopathy, early infantile, 41 NCBI curation C4310717 617105 20 Jun 2017 Disease Epileptic encephalopathy, early infantile, 42 NCBI curation C4310716 617106 20 Jun 2017 Disease Epileptic encephalopathy, early infantile, 43 NCBI curation C4310712 617113 20 Jun 2017 Disease Epileptic encephalopathy, early infantile, 44 NCBI curation C4310700 617132 20 Jun 2017 Disease Epileptic encephalopathy, early infantile, 45 NCBI curation C4310691 617153 20 Jun 2017 Disease Epileptic encephalopathy, early infantile, 46 NCBI curation C4310687 617162 20 Jun 2017 Disease Epileptic encephalopathy, early infantile, 47 NCBI curation C4310685 617166 20 Jun 2017 Disease Epileptic encephalopathy, early infantile, 48 NCBI curation C4310637 617276 20 Jun 2017 Disease Epileptic encephalopathy, early infantile, 49 NCBI curation C4310635 617281 20 Jun 2017 Disease Epileptic encephalopathy, early infantile, 50 NCBI curation C4225320 616457 20 Jun 2017 Disease Epileptic encephalopathy, early infantile, 51 NCBI curation C4479208 617339 20 Jun 2017 Disease Epileptic encephalopathy, early infantile, 52 NCBI curation C4479236 617350 20 Jun 2017 Disease Epileptic encephalopathy, early infantile, 53 NCBI curation C4479313 617389 20 Jun 2017 Disease Epileptic encephalopathy, early infantile, 54 NCBI curation C4479319 617391 20 Jun 2017 Disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56 OMIM C4540034 617665 617665 21 Sep 2017 Disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57 OMIM C4540411 617771 617771 22 Nov 2017 Disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 OMIM C4693367 617830 617830 24 Jan 2018 Disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60 OMIM C4693663 617929 617929 07 Apr 2018 Disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 OMIM C4693810 617976 617976 17 May 2018 Disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 OMIM C4693899 618004 618004 06 Jun 2018 Disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65 OMIM C4693925 618008 618008 07 Jun 2018 Disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66 OMIM C4748070 618067 618067 04 Aug 2018 Disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 OMIM C4748341 618141 618141 07 Oct 2018 Disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 OMIM C4748688 618201 618201 30 Nov 2018 Disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 OMIM C4748988 618285 618285 20 Jan 2019 Disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70 OMIM C4749023 618298 618298 26 Jan 2019 Disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 71 OMIM C5193030 618328 618328 20 Feb 2019 Disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 72 OMIM C5193063 618374 618374 06 Apr 2019 Disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 74 OMIM C5193074 618396 618396 20 Apr 2019 Disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75 OMIM C5193099 618437 618437 26 May 2019 Disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76 OMIM C5193113 618468 618468 21 Jun 2019 Disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 77 OMIM C5231405 618548 618548 25 Aug 2019 Disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78 OMIM C5231409 618557 618557 06 Sep 2019 Disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 79 OMIM C5231410 618559 618559 06 Sep 2019 Disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80 OMIM C5231418 618580 618580 15 Sep 2019 Disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81 OMIM C5231450 618663 618663 22 Nov 2019 Disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82 OMIM C5231473 618721 618721 29 Dec 2019 Disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83 OMIM C5231487 618744 618744 26 Jan 2020 Disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84 OMIM CN263317 618792 618792 28 Feb 2020 Disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 85, WITH OR WITHOUT MIDLINE BRAIN DEFECTS OMIM CN272932 301044 301044 16 Apr 2020 Disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 86 OMIM CN282591 618910 618910 19 Jun 2020 Disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 87 OMIM CN283238 618916 618916 27 Jun 2020 Disease Epileptic encephalopathy, infantile or early childhood OMIM phenotypic series CN263091 PS617711 29 Dec 2019 Disease Epileptic encephalopathy, infantile or early childhood 1 NCBI curation C4540199 617711 29 Dec 2019 Disease Epileptic encephalopathy, infantile or early childhood 2 NCBI curation C4693362 617829 29 Dec 2019 Disease Epileptic encephalopathy, infantile or early childhood 3 NCBI curation C4693934 618012 29 Dec 2019 Disease epileptic encephalopathy. Congenital retinopathy. Profound developmental delay and arrest of development. CN235540 16 Mar 2016 Finding Epileptic seizures 23 Jun 2020 Finding Epileptic spasms Human Phenotype Ontology C1527366 HP:0011097 16 Feb 2016 Finding epileptic syndromes with complex partial seizures 05 Sep 2019 Finding Epileptiform EEG discharges Human Phenotype Ontology C4023491 HP:0011182 16 Feb 2016 Finding Epimerase deficiency 16 Feb 2016 Disease Epimetaphyseal dysplasia cataract 16 Feb 2016 Disease Epimetaphyseal skeletal dysplasia 16 Feb 2016 Disease Epiphora due to excess lacrimation MONDO C0155233 MONDO:0001918 17 Apr 2020 Disease Epiphora due to insufficient drainage MONDO C0155234 MONDO:0001792 17 Apr 2020 Disease Epiphyseal chondrodysplasia, miura type NCBI curation C4014690 615923 16 Feb 2016 Disease Epiphyseal deformities of tubular bones Human Phenotype Ontology C1854786 HP:0003053 16 Feb 2016 Finding Epiphyseal dysplasia Human Phenotype Ontology C0392476 HP:0002656 16 Feb 2016 Finding Epiphyseal dysplasia dysmorphism camptodactyly 16 Feb 2016 Disease Epiphyseal dysplasia hearing loss dysmorphism 16 Feb 2016 Disease Epiphyseal dysplasia of femoral head, myopia, and deafness NCBI curation C1856918 226950 16 Feb 2016 Disease Epiphyseal dysplasia, baumann type NCBI curation C1835830 610797 16 Feb 2016 Disease Epiphyseal dysplasia, multiple, 1, severe NCBI curation C4016660 16 Feb 2016 Disease Epiphyseal dysplasia, multiple, 2 MONDO C1838429 MONDO:0010844 600204 22 Apr 2020 Disease Epiphyseal dysplasia, multiple, 3 MONDO C1832998 MONDO:0010964 600969 22 Apr 2020 Disease Epiphyseal dysplasia, multiple, 3, with myopathy NCBI curation C3152083 16 Feb 2016 Disease Epiphyseal dysplasia, multiple, 3, with or without myopathy CN259013 13 Jun 2019 Disease EPIPHYSEAL DYSPLASIA, MULTIPLE, 7 OMIM C4540251 617719 617719 16 Oct 2017 Disease Epiphyseal dysplasia, multiple, with miniepiphyses NCBI curation C1836307 609325 16 Feb 2016 Disease Epiphyseal dysplasia, multiple, with myopia and conductive deafness NCBI curation C1851536 132450 16 Feb 2016 Disease Epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia NCBI curation C1836315 609324 16 Feb 2016 Disease Epiphyseal dysplasia, ribbing type NCBI curation 16 Feb 2016 Disease Epiphyseal dysplasia-hearing loss-dysmorphism syndrome MONDO C4707857 MONDO:0015941 17 Apr 2020 Disease Epiphyseal stippling Human Phenotype Ontology C1859126 HP:0010655 16 Feb 2016 Finding Epiphyseal stippling of finger phalanges Human Phenotype Ontology C4021304 HP:0010237 16 Feb 2016 Finding Epiphyseal stippling of the first metacarpal Human Phenotype Ontology C4021345 HP:0010024 16 Feb 2016 Finding Epiphyseal stippling of the humerus Human Phenotype Ontology C4021711 HP:0003902 16 Feb 2016 Finding Epiphyseal stippling of the metacarpals Human Phenotype Ontology C4021514 HP:0009195 16 Feb 2016 Finding Epiphyseal stippling of toe phalanges Human Phenotype Ontology C4021332 HP:0010171 16 Feb 2016 Finding Epiphyseal streaking Human Phenotype Ontology C1858039 HP:0004990 16 Feb 2016 Finding Epiphysiolysis of the hip MONDO MONDO:0018382 17 Apr 2020 Disease Epiretinal membrane Human Phenotype Ontology C0339543 HP:0100014 16 Feb 2016 Finding epirubicin response - Efficacy PharmGKB 1446897383PA449476 06 Jul 2018 Pharmacological response Episcleritis Human Phenotype Ontology C0014583 HP:0100534 16 Feb 2016 Finding Episcleritis periodica fugax MONDO C0155351 MONDO:0001439 17 Apr 2020 Disease Episodic abdominal pain Human Phenotype Ontology C3808022 HP:0002574 16 Feb 2016 Finding Episodic ammonia intoxication Human Phenotype Ontology C1839541 HP:0001951 16 Feb 2016 Finding Episodic ataxia OMIM phenotypic series C1720189 PS160120 16 Feb 2016 Disease Episodic ataxia Human Phenotype Ontology C1720189 HP:0002131 16 Feb 2016 Disease Episodic ataxia type 1 C1719788 160120 16 Feb 2016 Disease Episodic Ataxia Type 10 CN230101 16 Feb 2016 Disease Episodic Ataxia Type 11 CN230102 16 Feb 2016 Disease Episodic Ataxia Type 12 CN230103 16 Feb 2016 Disease Episodic ataxia type 2 C1720416 108500 16 Feb 2016 Disease Episodic Ataxia Type 9 CN230100 16 Feb 2016 Disease Episodic ataxia, type 2, and epilepsy NCBI curation C4016713 16 Feb 2016 Disease Episodic ataxia, type 3 NCBI curation C1847839 606554 16 Feb 2016 Disease Episodic ataxia, type 4 NCBI curation C1847843 606552 16 Feb 2016 Disease Episodic ataxia, type 5 NCBI curation C1866039 613855 16 Feb 2016 Disease Episodic ataxia, type 6 NCBI curation C2675211 612656 16 Feb 2016 Disease Episodic ataxia, type 7 NCBI curation C2677843 611907 16 Feb 2016 Disease Episodic ataxia, type 8 NCBI curation C4015108 616055 16 Feb 2016 Disease Episodic ataxia/myokymia syndrome CN259014 13 Jun 2019 Disease Episodic coma 06 Mar 2019 Disease Episodic fatigue Human Phenotype Ontology C4022907 HP:0012431 16 Feb 2016 Finding Episodic fever Human Phenotype Ontology C3714772 HP:0001954 16 Feb 2016 Finding Episodic flaccid weakness Human Phenotype Ontology C4025572 HP:0003752 16 Feb 2016 Finding Episodic generalized hypotonia Human Phenotype Ontology C4024976 HP:0006852 16 Feb 2016 Finding Episodic hemiplegia Human Phenotype Ontology C1863061 HP:0012194 16 Feb 2016 Finding Episodic hemolytic anemia Human Phenotype Ontology C1859495 HP:0004802 16 Feb 2016 Finding Episodic hyperhidrosis Human Phenotype Ontology C1857171 HP:0001069 16 Feb 2016 Finding Episodic hypersomnia Human Phenotype Ontology C4024925 HP:0007200 16 Feb 2016 Finding Episodic hypertension Human Phenotype Ontology C1857175 HP:0000875 16 Feb 2016 Finding Episodic hypokalemia Human Phenotype Ontology C4022754 HP:0012726 16 Feb 2016 Finding Episodic hypoventilation Human Phenotype Ontology C1844946 HP:0004881 16 Feb 2016 Finding Episodic ketoacidosis Human Phenotype Ontology C1859860 HP:0005974 16 Feb 2016 Finding Episodic kinesigenic dyskinesia 1 NCBI curation C4552000 128200 30 Mar 2020 Disease Episodic kinesigenic dyskinesia 2 MONDO C1970238 MONDO:0012603 611031 17 Apr 2020 Disease Episodic metabolic acidosis Human Phenotype Ontology C1859516 HP:0004911 16 Feb 2016 Finding Episodic muscle weakness, X-linked NCBI curation C1846173 300211 16 Feb 2016 Disease Episodic pain syndrome 22 Oct 2019 Finding Episodic pain syndrome, familial, 2 NCBI curation C3809893 615551 16 Feb 2016 Disease Episodic pain syndrome, familial, 3 NCBI curation C3809899 615552 16 Feb 2016 Disease Episodic paroxysmal anxiety Human Phenotype Ontology C1387805 HP:0000740 02 Apr 2017 Finding Episodic peripheral neuropathy Human Phenotype Ontology C1848695 HP:0006949 16 Feb 2016 Finding Episodic quadriplegia Human Phenotype Ontology C1863062 HP:0200072 16 Feb 2016 Finding Episodic respiratory distress Human Phenotype Ontology C1844945 HP:0004885 16 Feb 2016 Finding Episodic tachypnea Human Phenotype Ontology C3806218 HP:0002876 16 Feb 2016 Finding Episodic upper airway obstruction Human Phenotype Ontology C4022978 HP:0012271 16 Feb 2016 Finding Episodic vomiting Human Phenotype Ontology C1838993 HP:0002572 16 Feb 2016 Finding Epispadias Human Phenotype Ontology C0563449 HP:0000039 16 Feb 2016 Finding Epistaxis Human Phenotype Ontology C0014591 HP:0000421 16 Feb 2016 Finding Epithelial and subepithelial corneal dystrophy MONDO MONDO:0000763 17 Apr 2020 Disease Epithelial basolateral chloride conductance regulator, rabbit, homolog of NCBI curation C1832477 601315 16 Feb 2016 Disease Epithelial neoplasm Human Phenotype Ontology C1368683 HP:0031492 04 Apr 2018 Finding Epithelial neoplasm of rectum MONDO MONDO:0024476 17 Apr 2020 Disease Epithelial predominant pulmonary blastoma MONDO C1333420 MONDO:0003129 17 Apr 2020 Disease Epithelial predominant Wilms' tumor MONDO C0279608 MONDO:0003322 17 Apr 2020 Disease Epithelial recurrent erosion dystrophy NCBI curation C1852551 122400 16 Feb 2016 Disease Epithelial skin neoplasm MONDO C0345976 MONDO:0021634 17 Apr 2020 Disease Epithelial squamous dysplasia, keratinizing desquamative, of urinary tract NCBI curation C1856902 226985 16 Feb 2016 Disease Epithelial tumor of anal canal MONDO CN237521 MONDO:0018516 17 Apr 2020 Disease Epithelial tumor of colon MONDO MONDO:0024479 17 Apr 2020 Disease Epithelial tumor of the appendix MONDO CN237516 MONDO:0018511 17 Apr 2020 Disease Epithelial-stromal TGFBI dystrophy MONDO MONDO:0000764 17 Apr 2020 Disease Epithelio-exfoliative colitis-deafness syndrome MONDO MONDO:0015172 17 Apr 2020 Disease Epithelioid cell melanoma MONDO C0334443 MONDO:0002973 17 Apr 2020 Disease Epithelioid cell nevus MONDO C0259820 MONDO:0044795 17 Apr 2020 Disease Epithelioid cell synovial sarcoma MONDO C0334506 MONDO:0003469 17 Apr 2020 Disease Epithelioid cell uveal melanoma MONDO C1333422 MONDO:0006200 17 Apr 2020 Disease Epithelioid hemangioendothelioma MONDO C0206732 MONDO:0015523 17 Apr 2020 Disease Epithelioid hemangioma MONDO C0205788 MONDO:0021169 07 Jun 2020 Disease Epithelioid leiomyosarcoma MONDO C0205815 MONDO:0003356 17 Apr 2020 Disease Epithelioid malignant peripheral nerve sheath tumor MONDO C1321427 MONDO:0004540 17 Apr 2020 Disease Epithelioid neurofibroma MONDO C1275264 MONDO:0003302 17 Apr 2020 Disease Epithelioid sarcoma C0205944 16 Feb 2016 Disease Epithelioid trophoblastic tumor MONDO C1266159 MONDO:0016787 17 Apr 2020 Disease Epithelioid type angiomyolipoma MONDO C4518194 MONDO:0002606 17 Apr 2020 Disease EPOXIDE HYDROLASE 1 POLYMORPHISM 22 Sep 2017 Disease Epsilon-heavy chain disease MONDO C0272254 MONDO:0024285 17 Apr 2020 Disease Epstein-Barr virus hepatitis MONDO C0554114 MONDO:0000286 04 Jun 2020 Infectious disease Epstein-Barr virus infection MONDO C0149678 MONDO:0005111 04 Jun 2020 Infectious disease Epstein-barr virus integration site NCBI curation 16 Feb 2016 Disease Epstein-Barr virus-associated carcinoma MONDO CN261768 MONDO:0017344 17 Apr 2020 Disease Epstein-Barr virus-associated gastric carcinoma MONDO C4274414 MONDO:0017784 17 Apr 2020 Disease Epstein-Barr virus-associated malignant lymphoproliferative disorder MONDO C2363744 MONDO:0017343 17 Apr 2020 Disease Epstein-Barr virus-associated mesenchymal tumor MONDO CN203006 MONDO:0017345 17 Apr 2020 Disease Epstein-Barr virus-related tumor MONDO CN203004 MONDO:0017342 17 Apr 2020 Disease Epulis MONDO C0266919 MONDO:0003396 17 Apr 2020 Disease Equatorial staphyloma MONDO C0155361 MONDO:0001800 17 Apr 2020 Disease Equinovarus deformity Human Phenotype Ontology C4551566 HP:0008110 16 Feb 2016 Finding Equinus calcaneus Human Phenotype Ontology C1860449 HP:0008138 16 Feb 2016 Finding ERBB2 expression CN186049 16 Feb 2016 Finding ERBB2 POLYMORPHISM 16 Feb 2016 Disease ERCC1-Related Xeroderma Pigmentosum NCBI curation CN119607 16 Feb 2016 Disease ERCC2-Related Disorders CN239291 02 Dec 2016 Disease ERCC6-Related Disorders CN239385 02 Dec 2016 Disease Erdafitinib Response CN282553 17 Jun 2020 Pharmacological response Erdheim-Chester disease C0878675 16 Feb 2016 Disease Erectile abnormalities Human Phenotype Ontology C4022003 HP:0100639 16 Feb 2016 Finding Erectile Dysfunction PharmGKB C0242350 18 May 2016 Disease Erectile dysfunction (disease) MONDO MONDO:0005362 17 Apr 2020 Disease Ergotism MONDO MONDO:0042496 17 Apr 2020 Disease Erlenmeyer flask deformity of the femurs Human Phenotype Ontology C1855895 HP:0004975 16 Feb 2016 Finding Erlotinib response CN077981 16 Feb 2016 Pharmacological response erlotinib response - Efficacy PharmGKB CN236552 981475838 18 May 2016 Pharmacological response Ermine phenotype C1856899 227010 16 Feb 2016 Disease Eronen Somer Gustafsson syndrome 16 Feb 2016 Disease Erosion of oral mucosa Human Phenotype Ontology C0399461 HP:0031446 04 Apr 2018 Finding Erosive pustular dermatosis of the scalp C0406464 16 Feb 2016 Disease Erosive vitreoretinopathy Human Phenotype Ontology C1840452 HP:0030673 02 Apr 2017 Finding Erratic myoclonus Human Phenotype Ontology C4476727 HP:0025357 02 Apr 2017 Finding Eruptive vellus hair cyst Human Phenotype Ontology C0345998 HP:0025248 02 Apr 2017 Finding Eruptive xanthomas Human Phenotype Ontology C0221252 HP:0001013 16 Feb 2016 Finding Erysipelas Human Phenotype Ontology C0014733 HP:0001055 16 Feb 2016 Infectious disease Erysipeloid MONDO C1276801 MONDO:0000237 04 Jun 2020 Infectious disease Erysipelothrix infectious disease MONDO C0014736 MONDO:0006751 04 Jun 2020 Infectious disease Erysipelothrix rhusiopathiae infectious disease MONDO CN281813 MONDO:0006752 04 Jun 2020 Infectious disease Erythema Human Phenotype Ontology C0041834 HP:0010783 16 Feb 2016 Finding Erythema elevatum diutinum C0263398 16 Feb 2016 Disease Erythema infectiosum C0085273 16 Feb 2016 Infectious disease Erythema migrans Human Phenotype Ontology C0014740 HP:0031180 04 Apr 2018 Finding Erythema multiforme C0014742 16 Feb 2016 Disease Erythema multiforme major MONDO C3241919 MONDO:0044719 17 Apr 2020 Disease Erythema nodosum Human Phenotype Ontology C0014743 HP:0012219 16 Feb 2016 Finding Erythema nodosum, familial C1851503 132990 16 Feb 2016 Disease Erythema nodosum, idiopathic 16 Feb 2016 Disease Erythema of acral regions NCBI curation C1856900 227000 16 Feb 2016 Disease Erythema of the eyelids Human Phenotype Ontology C0239454 HP:0040323 04 Apr 2018 Finding Erythema palmare hereditarium NCBI curation C1851502 133000 16 Feb 2016 Disease Erythematosquamous dermatosis MONDO C0014747 MONDO:0006546 17 Apr 2020 Disease Erythematous macule Human Phenotype Ontology C2228270 HP:0025475 04 Apr 2018 Finding Erythematous papule Human Phenotype Ontology C0747241 HP:0030350 16 Feb 2016 Finding Erythematous plaque Human Phenotype Ontology C0332477 HP:0025474 04 Apr 2018 Finding erythematous scaly lesions 18 Feb 2020 Finding Erythrasma MONDO C0014752 MONDO:0002885 17 Apr 2020 Disease Erythremia, alpha-globin type NCBI curation 16 Feb 2016 Disease Erythremia, beta-globin type NCBI curation 16 Feb 2016 Disease Erythroblastopenia 16 Feb 2016 Disease Erythrocyte Alloimmunization C4706870 08 Apr 2019 Blood group Erythrocyte AMP deaminase deficiency NCBI curation C2752073 612874 16 Feb 2016 Disease Erythrocyte cylindruria Human Phenotype Ontology C4022818 HP:0012617 16 Feb 2016 Finding Erythrocyte disease MONDO C0221016 MONDO:0044347 17 Apr 2020 Disease Erythrocyte galactose epimerase deficiency MONDO C0574090 MONDO:0017691 17 Apr 2020 Disease Erythrocyte lactate transporter defect NCBI curation C1855577 245340 16 Feb 2016 Disease Erythrocytosis NCBI curation C1527405 16 Feb 2016 Disease Erythrocytosis 6, familial NCBI curation C4693822 617980 23 Jul 2018 Disease Erythrocytosis, familial, 2 NCBI curation C1837915 263400 16 Feb 2016 Disease Erythrocytosis, familial, 3 NCBI curation C1853286 609820 16 Feb 2016 Disease Erythrocytosis, familial, 4 NCBI curation C2673187 611783 16 Feb 2016 Disease ERYTHROCYTOSIS, FAMILIAL, 5 OMIM C4693552 617907 617907 18 Mar 2018 Disease ERYTHROCYTOSIS, FAMILIAL, 7 OMIM C4693823 617981 617981 23 May 2018 Disease ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC C4016234 16 Feb 2016 Disease Erythroderma Human Phenotype Ontology C0011606 HP:0001019 16 Feb 2016 Finding Erythroderma desquamativa of Leiner 16 Feb 2016 Disease Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige NCBI curation C3809719 615508 16 Feb 2016 Disease Erythroderma, ichthyosiform, congenital reticular NCBI curation C3665704 609165 16 Feb 2016 Disease Erythrodontia Human Phenotype Ontology C4280783 HP:0030756 02 Apr 2017 Finding Erythroid hyperplasia Human Phenotype Ontology C0014800 HP:0012132 16 Feb 2016 Finding Erythroid hypoplasia Human Phenotype Ontology C0542035 HP:0012133 16 Feb 2016 Finding Erythroid neoplasm MONDO C1333438 MONDO:0020703 17 Apr 2020 Disease Erythrokeratoderma MONDO C0432330 MONDO:0019270 17 Apr 2020 Disease Erythrokeratoderma en cocardes MONDO CN203813 MONDO:0017836 17 Apr 2020 Disease Erythrokeratoderma variabilis progressiva MONDO CN263144 MONDO:0017681 07 Jun 2020 Disease Erythrokeratoderma, reticular NCBI curation C1836681 16 Feb 2016 Disease Erythrokeratodermia ataxia 16 Feb 2016 Disease Erythrokeratodermia progressive symmetrica ichthyosis 16 Feb 2016 Disease Erythrokeratodermia symmetrica progressiva 16 Feb 2016 Disease Erythrokeratodermia variabilis MONDO C0265961 MONDO:0017851 07 Jun 2020 Disease Erythrokeratodermia variabilis et progressiva 1 NCBI curation C4551486 133200 14 Jan 2020 Disease Erythrokeratodermia variabilis et progressiva 2 NCBI curation C4479618 617524 20 Jun 2017 Disease Erythrokeratodermia variabilis et progressiva 3 NCBI curation C4479619 617525 20 Jun 2017 Disease Erythrokeratodermia variabilis et progressiva 4 NCBI curation C4479620 617526 20 Jun 2017 Disease ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5 OMIM C4540331 617756 617756 04 Nov 2017 Disease ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6 OMIM C5193144 618531 618531 11 Aug 2019 Disease Erythrokeratodermia variabilis ichthyosis 16 Feb 2016 Disease Erythrokeratodermia variabilis, Mendes da Costa type 16 Feb 2016 Disease Erythrokeratodermia-cardiomyopathy syndrome MONDO CN776912 MONDO:0018774 17 Apr 2020 Disease Erythroplakia C0014818 16 Feb 2016 Disease Erythropoietic protoporphyria C0162568 19 Jan 2020 Disease Erythropoietic uroporphyria associated with myeloid malignancy MONDO C5191004 MONDO:0017231 17 Apr 2020 Disease Erythropoietin polycythemia MONDO C0391869 MONDO:0002440 17 Apr 2020 Disease Escc, susceptibility to NCBI curation 16 Feb 2016 Disease Escher Hirt syndrome 16 Feb 2016 Disease Escherichia coli meningitis MONDO C0338395 MONDO:0006753 04 Jun 2020 Infectious disease Escitalopram response NCBI curation CN221264 16 Feb 2016 Pharmacological response escitalopram response - Metabolism/PK PharmGKB CN236589 1043859080 18 May 2016 Pharmacological response Esomeprazole response NCBI curation CN077982 16 Feb 2016 Pharmacological response Esophageal adenocarcinoma MONDO C0279628 MONDO:0005028 17 Apr 2020 Disease Esophageal adenoid cystic carcinoma MONDO C1333441 MONDO:0003186 17 Apr 2020 Disease Esophageal adenosquamous carcinoma MONDO C2063886 MONDO:0003550 17 Apr 2020 Disease Esophageal and colonic dysmotility 14 Nov 2019 Disease Esophageal atresia Human Phenotype Ontology C0014850 HP:0002032 16 Feb 2016 Finding Esophageal atresia (disease) MONDO MONDO:0001044 17 Apr 2020 Disease Esophageal atresia associated anomalies 16 Feb 2016 Disease Esophageal atresia coloboma talipes 16 Feb 2016 Disease Esophageal basaloid carcinoma MONDO C1333443 MONDO:0004093 17 Apr 2020 Disease Esophageal cancer, alcohol-related, susceptibility to NCBI curation C3149226 24 Aug 2016 Disease Esophageal cancer, childhood 16 Feb 2016 Disease Esophageal candidiasis MONDO C0239295 MONDO:0001648 04 Jun 2020 Infectious disease Esophageal carcinoma, somatic NCBI curation C4015970 16 Feb 2016 Disease Esophageal disease MONDO C0014852 MONDO:0003749 17 Apr 2020 Disease Esophageal disorder 16 Feb 2016 Disease Esophageal diverticulosis MONDO C0917875 MONDO:0006754 17 Apr 2020 Disease Esophageal diverticulum Human Phenotype Ontology C0014854 HP:0100628 16 Feb 2016 Finding Esophageal duodenal atresia abnormalities of hands 16 Feb 2016 Disease Esophageal duplication Human Phenotype Ontology C0266135 HP:0100681 16 Feb 2016 Finding Esophageal duplication cyst MONDO C4303524 MONDO:0015050 17 Apr 2020 Disease Esophageal granular cell tumor MONDO C1333448 MONDO:0003251 17 Apr 2020 Disease Esophageal leukoplakia Human Phenotype Ontology C0267095 HP:0012859 16 Feb 2016 Finding Esophageal lipoma MONDO C1333455 MONDO:0000963 17 Apr 2020 Disease Esophageal malformation MONDO CN227643 MONDO:0019513 17 Apr 2020 Disease Esophageal melanoma MONDO C1333460 MONDO:0001192 17 Apr 2020 Disease Esophageal neoplasm Human Phenotype Ontology C0014859 HP:0100751 04 Jan 2019 Disease Esophageal obstruction Human Phenotype Ontology C0239296 HP:0005240 16 Feb 2016 Finding Esophageal reflux CN235248 19 Feb 2016 Finding Esophageal small cell neuroendocrine carcinoma MONDO C1112474 MONDO:0004116 17 Apr 2020 Disease Esophageal spasms Human Phenotype Ontology C0014863 HP:0025271 02 Apr 2017 Finding Esophageal Squamous Cell Carcinoma NCBI curation C0279626 02 Mar 2017 Disease Esophageal squamous cell carcinoma, somatic NCBI curation C4016881 16 Feb 2016 Disease Esophageal squamous cell carcinoma, susceptibility to NCBI curation 16 Feb 2016 Disease Esophageal squamous papilloma Human Phenotype Ontology C1333467 HP:0031463 04 Apr 2018 Finding Esophageal stenosis Human Phenotype Ontology C0014866 HP:0010450 16 Feb 2016 Finding Esophageal stricture Human Phenotype Ontology C4551650 HP:0002043 16 Feb 2016 Finding Esophageal tuberculosis MONDO C0152902 MONDO:0004189 04 Jun 2020 Infectious disease Esophageal ulcer MONDO MONDO:0044782 17 Apr 2020 Disease Esophageal ulceration Human Phenotype Ontology C0151970 HP:0004791 16 Feb 2016 Finding Esophageal varices 16 Feb 2016 Disease Esophageal varices with bleeding MONDO MONDO:0021645 17 Apr 2020 Disease Esophageal varices without bleeding MONDO C0267092 MONDO:0021644 17 Apr 2020 Disease Esophageal varix Human Phenotype Ontology C0014867 HP:0002040 16 Feb 2016 Finding Esophageal web Human Phenotype Ontology C0267080 HP:0100594 16 Feb 2016 Finding Esophagitis Human Phenotype Ontology C0014868 HP:0100633 16 Feb 2016 Finding Esophagitis (disease) MONDO MONDO:0001409 17 Apr 2020 Disease Esophagitis, eosinophilic, 2 NCBI curation C3150679 613412 16 Feb 2016 Disease Esophagus carcinoma in situ MONDO C0154059 MONDO:0004708 17 Apr 2020 Disease Esophagus leiomyoma MONDO C0238114 MONDO:0004832 17 Apr 2020 Disease Esophagus leiomyosarcoma MONDO C1333454 MONDO:0003365 17 Apr 2020 Disease Esophagus liposarcoma MONDO C1333456 MONDO:0003586 17 Apr 2020 Disease Esophagus lymphoma MONDO C1333459 MONDO:0001188 17 Apr 2020 Disease Esophagus sarcoma MONDO C1333466 MONDO:0001204 17 Apr 2020 Disease Esophagus verrucous carcinoma MONDO C1333470 MONDO:0002762 17 Apr 2020 Disease Esophoria Human Phenotype Ontology C0152216 HP:0025312 02 Apr 2017 Finding Esotropia Human Phenotype Ontology C0014877 HP:0000565 16 Feb 2016 Finding ESRD, 2 months 19 Jul 2018 Finding Essential hypertension C0085580 145500 16 Feb 2016 Disease Essential hypertension;Hypertension PharmGKB 17 Feb 2017 Disease Essential iris atrophy MONDO C0271111 MONDO:0020371 17 Apr 2020 Disease Essential pentosuria NCBI curation C0268162 260800 16 Feb 2016 Disease Essential strabismus MONDO MONDO:0020252 17 Apr 2020 Disease essential thrombocytemia C0040028 16 Feb 2016 Finding Essential tremor C0270736 16 Feb 2016 Disease Essential tremor, susceptibility to NCBI curation 16 Feb 2016 Disease Esterase B MONDO MONDO:0007578 17 Apr 2020 Disease Esterase c NCBI curation C1851476 133270 16 Feb 2016 Disease Esterase es-2, regulator for NCBI curation C1851475 133300 16 Feb 2016 Disease Esthesioneuroblastoma 16 Feb 2016 Disease ESTREN-DAMESHEK VARIANT OF FANCONI ANEMIA CN653908 30 Nov 2017 Disease Estren-Dameshek variant of Fanconi pancytopenia NCBI curation C1856797 20 Jun 2017 Disease Estrogen receptor mutant, temperature-sensitive NCBI curation C4016037 16 Feb 2016 Disease estrogen receptor status C2919114 16 Feb 2016 Finding Estrogen resistance NCBI curation C3809250 615363 16 Feb 2016 Disease Estrogen-receptor negative breast cancer MONDO MONDO:0006513 17 Apr 2020 Disease Estrogen-receptor positive breast cancer MONDO MONDO:0006512 17 Apr 2020 Disease estropia 05 Sep 2019 Finding etanercept response - Efficacy PharmGKB CN236553 655384799 18 May 2016 Pharmacological response ETC deficiency in muscle CN224075 16 Feb 2016 Finding ethambutol, isoniazid, pyrazinamide, and rifampin response - Toxicity/ADR PharmGKB CN240588 1447964041 17 Feb 2017 Pharmacological response ethambutol, isoniazid, pyrazinamide, and rifampin response - Toxicity/ADR, Metabolism/PK PharmGKB CN240587 1447964060 17 Feb 2017 Pharmacological response ethanol response - Toxicity/ADR PharmGKB CN236590 981204890 18 May 2016 Pharmacological response Ethanolaminosis C0268423 227150 16 Feb 2016 Disease Ethinyl estradiol response NCBI curation CN077980 13 Dec 2016 Pharmacological response Ethmocephaly Human Phenotype Ontology C0266680 HP:0030779 02 Apr 2017 Finding Ethmoid sinus adenocarcinoma MONDO C1333472 MONDO:0002418 17 Apr 2020 Disease Ethmoid sinus adenoid cystic carcinoma MONDO C1333473 MONDO:0006201 17 Apr 2020 Disease Ethmoid sinus cancer MONDO C0153477 MONDO:0001763 17 Apr 2020 Disease Ethmoid sinus ectopic meningioma MONDO C1333475 MONDO:0004014 17 Apr 2020 Disease Ethmoid sinus inverted papilloma MONDO C1333474 MONDO:0003925 17 Apr 2020 Disease Ethmoid sinus Schneiderian papilloma MONDO C1333476 MONDO:0003923 17 Apr 2020 Disease Ethmoid sinus squamous cell carcinoma MONDO C1333477 MONDO:0002416 17 Apr 2020 Disease Ethmoid sinusitis MONDO C0015029 MONDO:0005756 17 Apr 2020 Disease Ethmoidal encephalocele Human Phenotype Ontology C1843495 HP:0004478 16 Feb 2016 Finding Ethmoidal sinus neoplasm MONDO C0345668 MONDO:0001764 17 Apr 2020 Disease Ethylene glycol poisoning MONDO MONDO:0017861 17 Apr 2020 Disease Ethylmalonic aciduria Human Phenotype Ontology C1865353 HP:0003219 16 Feb 2016 Finding Ethylmalonic encephalopathy C1865349 602473 16 Feb 2016 Disease ETM2 OMIM C1865810 602134 602134 17 Apr 2020 Disease ETM2 MONDO C1865810 MONDO:0011201 602134 17 Apr 2020 Disease etoposide response - Toxicity/ADR PharmGKB CN236591 1183704302 18 May 2016 Pharmacological response Eukaryotic translation elongation factor 1 alpha-1-like 14 NCBI curation C1833249 600841 16 Feb 2016 Disease Eumycotic mycetoma MONDO C2350621 MONDO:0005757 04 Jun 2020 Infectious disease Eunuchism MONDO C0238117 MONDO:0005758 17 Apr 2020 Disease Eunuchoid habitus Human Phenotype Ontology C4025569 HP:0003782 16 Feb 2016 Finding Euryblepharon Human Phenotype Ontology C1303001 HP:0012905 16 Feb 2016 Finding Eustachian tube disease MONDO C0271468 MONDO:0004866 17 Apr 2020 Disease Eustacian tube dysfunction 18 Nov 2019 Finding Euthyroid goiter Human Phenotype Ontology C0302859 HP:0009798 16 Feb 2016 Finding Euthyroid Graves orbitopathy MONDO CN242165 MONDO:0018756 17 Apr 2020 Disease Euthyroid hyperthyroxinemia Human Phenotype Ontology C4021549 HP:0008247 16 Feb 2016 Finding Euthyroid multinodular goiter Human Phenotype Ontology C1846034 HP:0000866 16 Feb 2016 Finding Euthyroid sick syndrome MONDO C0015190 MONDO:0006755 17 Apr 2020 Disease Evan's syndrome 18 Jan 2019 Finding Evans syndrome C0272126 16 Feb 2016 Disease Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency CN231723 16 Feb 2016 Disease EVC-Related Disorders 23 May 2019 Disease Even-plus syndrome NCBI curation C4225180 616854 13 Aug 2017 Disease Everolimus response 21 Mar 2018 Pharmacological response Eversion of lacrimal punctum MONDO C0155243 MONDO:0001766 17 Apr 2020 Disease Eversion of lateral third of lower eyelids Human Phenotype Ontology C1835801 HP:0007655 16 Feb 2016 Finding Everted antitragus Human Phenotype Ontology C4023444 HP:0011248 16 Feb 2016 Finding everted eyelids 02 Mar 2020 Finding Everted lower lip vermilion Human Phenotype Ontology C1853246 HP:0000232 16 Feb 2016 Finding Everted upper lip vermilion Human Phenotype Ontology C4023698 HP:0010803 16 Feb 2016 Finding EVI5-related condition 27 Apr 2018 Finding Ewing sarcoma of bone MONDO C0585474 MONDO:0002625 17 Apr 2020 Disease Ewing sarcoma of soft tissue C3165160 15 Mar 2019 Disease Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO C3536893 MONDO:0021038 17 Apr 2020 Disease Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone MONDO C1333481 MONDO:0021123 17 Apr 2020 Disease Ewing's sarcoma Human Phenotype Ontology C0553580 HP:0012254 612219 16 Feb 2016 Disease Exaggerated cupid's bow Human Phenotype Ontology C1850629 HP:0002263 16 Feb 2016 Finding Exaggerated median tongue furrow Human Phenotype Ontology C1845109 HP:0002711 16 Feb 2016 Finding Exaggerated rugosity of the labia majora Human Phenotype Ontology C4293674 HP:0030913 02 Apr 2017 Finding Exaggerated startle response Human Phenotype Ontology C1740801 HP:0002267 16 Feb 2016 Finding Exanthem (disease) MONDO MONDO:0006547 17 Apr 2020 Disease Exanthema subitum MONDO C0015231 MONDO:0000337 04 Jun 2020 Infectious disease Excess breast volume or number MONDO CN261315 MONDO:0015852 17 Apr 2020 Disease Excess LMW-DNA NCBI curation 16 Feb 2016 Disease Excess lymphocyte low molecular weight dna NCBI curation 16 Feb 2016 Disease Excessive bleeding after a venipuncture Human Phenotype Ontology C4022609 HP:0030139 16 Feb 2016 Finding Excessive bleeding from superficial cuts Human Phenotype Ontology C4022610 HP:0030138 16 Feb 2016 Finding Excessive cerumen Human Phenotype Ontology C1382811 HP:0030789 02 Apr 2017 Finding Excessive daytime sleepiness Human Phenotype Ontology C4551761 HP:0002189 16 Feb 2016 Finding Excessive daytime somnolence Human Phenotype Ontology C0694563 HP:0001262 02 Apr 2017 Finding Excessive femoral anteversion Human Phenotype Ontology C4022909 HP:0012427 16 Feb 2016 Finding Excessive insulin response to glucagon test Human Phenotype Ontology C4476963 HP:0031084 04 Apr 2018 Finding Excessive loose skin NCBI curation CN168752 16 Feb 2016 Finding Excessive purine production Human Phenotype Ontology C4025645 HP:0003142 16 Feb 2016 Finding Excessive salivation Human Phenotype Ontology C0037036 HP:0003781 16 Feb 2016 Finding Excessive skin wrinkling on dorsum of hands and fingers Human Phenotype Ontology C1837467 HP:0007407 16 Feb 2016 Finding excessive weight gain C0000765 18 Jan 2019 Finding Excessive wrinkled skin Human Phenotype Ontology C4024890 HP:0007392 16 Feb 2016 Finding Excessive wrinkling of palmar skin Human Phenotype Ontology C4021572 HP:0007605 16 Feb 2016 Finding Exchondrosis of pinna, posterior NCBI curation C1851463 133500 16 Feb 2016 Disease Excluded Human Phenotype Ontology C0332196 HP:0040285 02 Apr 2017 Finding Excretory apparatus of the lacrimal system anomaly MONDO CN227814 MONDO:0020195 17 Apr 2020 Disease exemestane response - Efficacy PharmGKB 1446897383PA449563 06 Jul 2018 Pharmacological response Exencephaly Human Phenotype Ontology C0266453 HP:0030769 02 Apr 2017 Disease exercise induced bronchospasm 05 Sep 2019 Disease Exercise intolerance Human Phenotype Ontology C0424551 HP:0003546 16 Feb 2016 Finding Exercise intolerance and complex III deficiency, somatic NCBI curation C4016631 26 May 2016 Disease Exercise intolerance with lactic acidosis MONDO CN229062 MONDO:0016804 17 Apr 2020 Disease Exercise intolerance, cardiomyopathy, and septooptic dysplasia NCBI curation C4016599 16 Feb 2016 Disease Exercise intolerance, muscle pain, and lactic acidemia NCBI curation C4016627 16 Feb 2016 Disease Exercise intolerance, riboflavin-responsive NCBI curation C4225187 616839 01 Jul 2017 Disease Exercise stress response, impaired, association with NCBI curation C3152078 16 Feb 2016 Disease Exercise-induced anaphylaxis MONDO MONDO:0100056 22 Apr 2020 Disease Exercise-induced asthma Human Phenotype Ontology C0004099 HP:0012652 16 Feb 2016 Finding Exercise-induced hemolysis Human Phenotype Ontology C4025182 HP:0005535 16 Feb 2016 Finding Exercise-induced hyperinsulinism MONDO C1864902 MONDO:0012396 610021 17 Apr 2020 Disease Exercise-induced lactic acidemia Human Phenotype Ontology C4025277 HP:0004901 16 Feb 2016 Finding Exercise-induced leg cramps Human Phenotype Ontology C4024607 HP:0008991 16 Feb 2016 Finding Exercise-induced malignant hyperthermia MONDO MONDO:0018752 17 Apr 2020 Disease Exercise-induced muscle cramps Human Phenotype Ontology C1855578 HP:0003710 16 Feb 2016 Finding Exercise-induced muscle fatigue Human Phenotype Ontology C1855580 HP:0009020 16 Feb 2016 Finding Exercise-induced muscle stiffness Human Phenotype Ontology C1855579 HP:0008967 16 Feb 2016 Finding Exercise-induced myalgia Human Phenotype Ontology C1850830 HP:0003738 16 Feb 2016 Finding Exercise-induced myoglobinuria Human Phenotype Ontology C1845155 HP:0008305 16 Feb 2016 Finding Exercise-induced rhabdomyolysis Human Phenotype Ontology C4021526 HP:0009045 16 Feb 2016 Finding Exercise-induced U wave inversion Human Phenotype Ontology C4476579 HP:0025073 02 Apr 2017 Finding Exertional dyspnea Human Phenotype Ontology C0231807 HP:0002875 16 Feb 2016 Finding Exertional headache MONDO MONDO:0023093 17 Apr 2020 Disease Exertional myalgia, muscle stiffness and myoglobinuria NCBI curation CN221546 16 Feb 2016 Disease Exfoliation syndrome, susceptibility to NCBI curation C4016255 28 Feb 2020 Disease Exfoliative dermatitis 16 Feb 2016 Disease Exhibitionism MONDO C0015269 MONDO:0000983 17 Apr 2020 Disease Exocervical carcinoma MONDO C1299238 MONDO:0002455 17 Apr 2020 Disease Exocrine pancreatic insufficiency Human Phenotype Ontology C0267963 HP:0001738 16 Feb 2016 Finding Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis NCBI curation C2675184 612714 16 Feb 2016 Disease Exogenous ochronosis 16 Feb 2016 Disease exomphalos 13 Sep 2017 Finding Exophoria Human Phenotype Ontology C0152217 HP:0025313 02 Apr 2017 Finding Exophthalmic ophthalmoplegia MONDO C0152135 MONDO:0001643 17 Apr 2020 Disease Exostoses Human Phenotype Ontology C1442903 HP:0100777 16 Feb 2016 Finding Exostoses anetodermia brachydactyly type E 16 Feb 2016 Disease Exostoses of hand bones Human Phenotype Ontology C4025375 HP:0004276 16 Feb 2016 Finding Exostoses of heel NCBI curation C0877431 133600 16 Feb 2016 Disease Exostoses of the forearm bones Human Phenotype Ontology C4025478 HP:0003960 16 Feb 2016 Finding Exostoses of the radial metaphysis Human Phenotype Ontology C4025442 HP:0004017 16 Feb 2016 Finding Exostoses of the radius Human Phenotype Ontology C4025463 HP:0003986 16 Feb 2016 Finding Exostoses of the ulna Human Phenotype Ontology C4025464 HP:0003985 16 Feb 2016 Finding Exostoses with anetodermia and brachydactyly, type e NCBI curation C1851428 133690 26 May 2016 Disease Exostoses, multiple, type 1 16 Feb 2016 Disease Exostoses, multiple, type III NCBI curation C1838420 600209 24 Aug 2016 Disease Exostosis MONDO MONDO:0002181 17 Apr 2020 Disease Exostosis of external ear canal C0155411 128300 16 Feb 2016 Disease Exostosis, Dupuytren subungual MONDO C1863622 MONDO:0011356 603656 22 Apr 2020 Disease Exotropia Human Phenotype Ontology C0015310 HP:0000577 16 Feb 2016 Finding exotropia left eye 05 Sep 2019 Finding Expanded metacarpals with widened medullary cavities Human Phenotype Ontology C1969288 HP:0006232 16 Feb 2016 Finding Expanded metatarsals with widened medullary cavities Human Phenotype Ontology C1969289 HP:0008102 16 Feb 2016 Finding Expanded phalanges with widened medullary cavities Human Phenotype Ontology C1969287 HP:0006112 16 Feb 2016 Finding Expanded terminal portion of crus of helix Human Phenotype Ontology C4021181 HP:0011259 16 Feb 2016 Finding Expansile bone lesions NCBI curation C1863880 603439 16 Feb 2016 Disease Experiential auras Human Phenotype Ontology C4023087 HP:0012002 16 Feb 2016 Finding Experimental autoimmune encephalomyelitis MONDO MONDO:0005134 17 Apr 2020 Disease explosive personality disorder 05 Sep 2019 Finding Exposure keratitis MONDO C0339295 MONDO:0004794 17 Apr 2020 Disease Exposure, dental pulp MONDO C0011406 MONDO:0020812 17 Apr 2020 Disease Exposure-related interstitial lung disease MONDO CN202351 MONDO:0017040 17 Apr 2020 Disease expression of estrogen receptor CN221137 16 Feb 2016 Finding expressive developmental disorder of speech and language 05 Sep 2019 Finding Expressive language delay Human Phenotype Ontology C0454641 HP:0002474 16 Feb 2016 Finding expressive language disorder 05 Sep 2019 Finding expressive language disorder apraxia of speech 05 Sep 2019 Finding Exstrophy Human Phenotype Ontology C0015338 HP:0100548 16 Feb 2016 Finding Exstrophy-epispadias complex Orphanet C1838703 ORPHA322 18 Nov 2018 Disease Exsudative retinopathy familial, autosomal dominant 16 Feb 2016 Disease Exsudative retinopathy familial, autosomal recessive 16 Feb 2016 Disease Exsudative retinopathy familial, X-linked, recessive 16 Feb 2016 Disease Exsudative retinopathy, familial 16 Feb 2016 Disease Extension of eyebrows towards upper eyelid Human Phenotype Ontology C4023717 HP:0010731 16 Feb 2016 Finding Extension of hair growth on temples to lateral eyebrow Human Phenotype Ontology C1857455 HP:0005325 16 Feb 2016 Finding Extensive dystrophic epidermolysis bullosa 27 Apr 2018 Finding Extensive peripapillary myelinated nerve fibers MONDO CN237640 MONDO:0018606 17 Apr 2020 Disease Extensor tendons of finger anomalies MONDO C1861237 MONDO:0008540 187390 07 Jun 2020 Disease External auditory canal aplasia/hypoplasia MONDO CN199486 MONDO:0015385 17 Apr 2020 Disease External auditory canal, bilateral atresia of, with congenital vertical talus NCBI curation C1876181 133705 16 Feb 2016 Disease External carotid artery calcification Human Phenotype Ontology C4531206 HP:0031315 04 Apr 2018 Finding External carotid artery dissection Human Phenotype Ontology C4023016 HP:0012161 16 Feb 2016 Finding External ear basal cell carcinoma MONDO C1333491 MONDO:0002943 17 Apr 2020 Disease External ear cancer MONDO C0349576 MONDO:0003574 17 Apr 2020 Disease External ear carcinoma MONDO C1333492 MONDO:0002944 17 Apr 2020 Disease External ear disease MONDO C0155388 MONDO:0002776 17 Apr 2020 Disease External ear lipoma MONDO C0347423 MONDO:0000973 17 Apr 2020 Disease External ear malformation Human Phenotype Ontology CN007542 HP:0008572 16 Feb 2016 Finding External ear neoplasm MONDO C0349575 MONDO:0021235 17 Apr 2020 Disease External ear squamous cell carcinoma MONDO C1333494 MONDO:0003501 17 Apr 2020 Disease External genital hypoplasia Human Phenotype Ontology C1855333 HP:0003241 16 Feb 2016 Finding External hirudiniasis MONDO C0392037 MONDO:0024303 04 Jun 2020 Infectious disease External ophthalmoplegia Human Phenotype Ontology C0162292 HP:0000544 16 Feb 2016 Finding External ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation NCBI curation 16 Feb 2016 Disease External pathological resorption MONDO C0266878 MONDO:0001988 17 Apr 2020 Disease Externally rotated hips Human Phenotype Ontology C1846339 HP:0008796 16 Feb 2016 Finding Externally rotated/abducted legs Human Phenotype Ontology C1970461 HP:0003783 16 Feb 2016 Finding Extra concha fold Human Phenotype Ontology C4020915 HP:0400002 16 Feb 2016 Finding Extra fontanelles Human Phenotype Ontology C4022927 HP:0012367 16 Feb 2016 Finding extra frenulae CN238486 13 Sep 2016 Finding extra lumbar vertebrae CN234775 16 Feb 2016 Finding Extra oral halitosis 20 Jul 2018 Disease extra wedge shaped vertebrae 10 Jun 2020 Finding Extra-axial cerebrospinal fluid accumulation Human Phenotype Ontology C4022871 HP:0012510 16 Feb 2016 Finding Extraadrenal pheochromocytoma Human Phenotype Ontology C1257877 HP:0006737 16 Feb 2016 Finding Extracapillary hypercellularity Human Phenotype Ontology C4476733 HP:0025364 02 Apr 2017 Finding Extracranial germ cell tumor, childhood 16 Feb 2016 Disease Extracranial internal carotid artery dissection Human Phenotype Ontology C4025267 HP:0004945 16 Feb 2016 Finding Extracranial neuroblastoma MONDO C1333499 MONDO:0002749 17 Apr 2020 Disease Extracutaneous mastocytoma MONDO C0272202 MONDO:0019025 17 Apr 2020 Disease Extrafoveal choroidal neovascularization Human Phenotype Ontology C4531253 HP:0031239 04 Apr 2018 Finding Extragonadal germ cell cancer MONDO C1334581 MONDO:0003113 17 Apr 2020 Disease Extragonadal germ cell tumor C0262963 16 Feb 2016 Disease Extragonadal germinoma MONDO C5190513 MONDO:0015935 17 Apr 2020 Disease Extragonadal non-dysgerminomatous germ cell tumor MONDO CN207440 MONDO:0020539 17 Apr 2020 Disease Extragonadal nonseminomatous germ cell tumor MONDO C1334582 MONDO:0003578 17 Apr 2020 Disease Extragonadal seminoma MONDO C1333502 MONDO:0003668 17 Apr 2020 Disease Extragonadal teratoma MONDO C4708601 MONDO:0019500 17 Apr 2020 Disease Extrahepatic bile duct adenocarcinoma MONDO C0279659 MONDO:0002665 17 Apr 2020 Disease Extrahepatic bile duct adenoma MONDO C1331534 MONDO:0003445 17 Apr 2020 Disease Extrahepatic bile duct carcinoma MONDO C0238019 MONDO:0003090 17 Apr 2020 Disease Extrahepatic bile duct clear cell adenocarcinoma MONDO C0861855 MONDO:0004081 17 Apr 2020 Disease Extrahepatic bile duct cystadenoma MONDO C1333504 MONDO:0004462 17 Apr 2020 Disease Extrahepatic bile duct leiomyoma MONDO C1333507 MONDO:0003286 17 Apr 2020 Disease Extrahepatic bile duct leiomyosarcoma MONDO C1333508 MONDO:0003377 17 Apr 2020 Disease Extrahepatic bile duct lipoma MONDO C1333509 MONDO:0000978 17 Apr 2020 Disease Extrahepatic bile duct mucinous adenocarcinoma MONDO C0861856 MONDO:0002739 17 Apr 2020 Disease Extrahepatic bile duct mucoepidermoid carcinoma MONDO C1332552 MONDO:0003089 17 Apr 2020 Disease Extrahepatic bile duct papillary adenoma MONDO C1333510 MONDO:0004250 17 Apr 2020 Disease Extrahepatic bile duct rhabdomyosarcoma MONDO C2064434 MONDO:0002577 17 Apr 2020 Disease Extrahepatic bile duct sarcoma MONDO C2205442 MONDO:0024658 17 Apr 2020 Disease Extrahepatic bile duct signet ring cell carcinoma MONDO C0861859 MONDO:0002664 17 Apr 2020 Disease Extrahepatic bile duct small cell adenocarcinoma MONDO C1335979 MONDO:0003708 17 Apr 2020 Disease Extrahepatic biliary duct atresia Human Phenotype Ontology C4520983 HP:0005242 210500 19 Mar 2018 Disease Extrahepatic biliary papillomatosis MONDO C1333511 MONDO:0004353 17 Apr 2020 Disease Extrahepatic cholestasis Human Phenotype Ontology C0005398 HP:0012334 16 Feb 2016 Finding Extrahepatic portal hypertension Human Phenotype Ontology C4025268 HP:0004941 16 Feb 2016 Finding Extralobar congenital pulmonary sequestration MONDO CN202764 MONDO:0017246 17 Apr 2020 Disease Extralobar sequestration Human Phenotype Ontology C4023626 HP:0010962 16 Feb 2016 Finding Extramammary Paget disease MONDO C0030186 MONDO:0008177 167300 22 Apr 2020 Disease Extramedullary hematopoiesis Human Phenotype Ontology C2613439 HP:0001978 16 Feb 2016 Finding Extramedullary plasmacytoma MONDO C0278619 MONDO:0002754 17 Apr 2020 Disease Extramedullary soft tissue plasmacytoma MONDO CN197328 MONDO:0015043 17 Apr 2020 Disease Extraocular muscle weakness 29 Sep 2017 Finding Extraocular retinoblastoma MONDO C0278719 MONDO:0003078 17 Apr 2020 Disease EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY OMIM C4748387 618148 618148 14 Oct 2018 Disease Extraosseous chondrosarcoma MONDO MONDO:0003044 17 Apr 2020 Disease Extraosseous osteosarcoma MONDO C0855052 MONDO:0002621 17 Apr 2020 Disease Extraovarian Brenner tumor of the vagina MONDO MONDO:0022607 17 Apr 2020 Disease Extrapulmonary sequestrum Human Phenotype Ontology C4025023 HP:0006544 16 Feb 2016 Finding Extrapulmonary tuberculosis MONDO C0679362 MONDO:0000368 04 Jun 2020 Infectious disease Extrapyramidal dyskinesia Human Phenotype Ontology C1848528 HP:0007308 16 Feb 2016 Finding Extrapyramidal movement disorder NCBI curation C0477355 16 Feb 2016 Disease Extrapyramidal muscular rigidity Human Phenotype Ontology C1852470 HP:0007076 16 Feb 2016 Finding Extrarenal rhabdoid tumor MONDO C1304517 MONDO:0044916 17 Apr 2020 Disease Extraskeletal Ewing sarcoma MONDO C0279980 MONDO:0018270 17 Apr 2020 Disease Extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO C1333514 MONDO:0021039 17 Apr 2020 Disease Extraskeletal mesenchymal chondrosarcoma MONDO C1275279 MONDO:0003043 17 Apr 2020 Disease Extraskeletal myxoid chondrosarcoma MONDO C1275278 MONDO:0012825 612237 22 Apr 2020 Disease Extrasystoles short stature hyperpigmentation microcephaly 16 Feb 2016 Disease Extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly NCBI curation C1851412 133750 16 Feb 2016 Disease Extratemporal epilepsy MONDO C0270849 MONDO:0002338 17 Apr 2020 Disease Extraventricular neurocytoma MONDO C2985175 MONDO:0016727 17 Apr 2020 Disease extreme enlargement of liver and spleen 13 Feb 2020 Finding Extreme fatigue, intermittant 23 Jan 2020 Finding Extreme growth retardation and multiple organ involvement 04 Aug 2017 Finding Extreme obesity with alveolar hypoventilation C0031880 257500 16 Feb 2016 Disease Extremely elevated creatine phosphokinase Human Phenotype Ontology C4022564 HP:0030235 16 Feb 2016 Finding Extremely severe hypertension 23 Jan 2020 Finding Extrinsic allergic alveolitis 16 Feb 2016 Disease Extrinsic cardiomyopathy MONDO MONDO:0002824 17 Apr 2020 Disease Exudative glomerulonephritis MONDO C0546345 MONDO:0003133 17 Apr 2020 Disease Exudative pleural effusion Human Phenotype Ontology C3887491 HP:0011921 16 Feb 2016 Finding Exudative retinal detachment Human Phenotype Ontology C0154822 HP:0012231 16 Feb 2016 Finding Exudative retinopathy Human Phenotype Ontology C0154832 HP:0007898 300216 16 Feb 2016 Disease Exudative vitreoretinopathy Human Phenotype Ontology C4072980 HP:0030490 16 Feb 2016 Finding Exudative vitreoretinopathy 1 NCBI curation C1851402 133780 16 Feb 2016 Disease Exudative vitreoretinopathy 3 NCBI curation C1854002 605750 16 Feb 2016 Disease Exudative vitreoretinopathy 4 NCBI curation C1866176 601813 16 Feb 2016 Disease Exudative vitreoretinopathy 4, autosomal dominant NCBI curation C4016838 16 Feb 2016 Disease Exudative vitreoretinopathy 4, autosomal recessive NCBI curation C4016839 16 Feb 2016 Disease Exudative vitreoretinopathy 4, digenic NCBI curation C4016840 16 Feb 2016 Disease Exudative vitreoretinopathy 5 NCBI curation C2750079 613310 16 Feb 2016 Disease Exudative vitreoretinopathy 6 NCBI curation C4225316 616468 16 Feb 2016 Disease EXUDATIVE VITREORETINOPATHY 7 OMIM C4539767 617572 617572 16 Jul 2017 Disease Exudative vitreoretinopathy, digenic NCBI curation C1858262 16 Feb 2016 Disease Exudative vitreoretinopathy, X-linked NCBI curation C4016494 26 May 2016 Disease EYA4-Related Disorders CN239388 02 Dec 2016 Disease Eye accommodation disease MONDO C0152198 MONDO:0000926 17 Apr 2020 Disease Eye adnexa disease MONDO C1290855 MONDO:0000462 17 Apr 2020 Disease Eye allergy MONDO MONDO:0005551 17 Apr 2020 Disease Eye carcinoma MONDO C0848866 MONDO:0002466 17 Apr 2020 Disease Eye carcinoma in situ MONDO C0154094 MONDO:0004659 17 Apr 2020 Disease Eye degenerative disease MONDO C0154777 MONDO:0004884 17 Apr 2020 Disease Eye Disorders NCBI curation 16 Feb 2016 Disease Eye infectious disease MONDO C0015403 MONDO:0043885 04 Jun 2020 Infectious disease Eye lymphoma MONDO C1333519 MONDO:0004034 17 Apr 2020 Disease Eye Manifestations NCBI curation C0015411 16 Feb 2016 Finding Eye Manifestations: absent NCBI curation CN184659 16 Feb 2016 Finding Eye movement-induced pain Human Phenotype Ontology C4280742 HP:0030857 02 Apr 2017 Finding Eye neoplasm MONDO MONDO:0021220 17 Apr 2020 Disease Eye of the tiger anomaly of globus pallidus Human Phenotype Ontology C4025705 HP:0002454 16 Feb 2016 Finding Eye poking Human Phenotype Ontology C0233593 HP:0001483 16 Feb 2016 Finding eye problems C0262477 16 Feb 2016 Finding Eyebrow duplication-syndactyly syndrome MONDO C1856896 MONDO:0009200 227210 17 Apr 2020 Disease Eyebrow hypertrophy MONDO MONDO:0020186 17 Apr 2020 Disease Eyebrow, whorl in NCBI curation C1851401 133800 16 Feb 2016 Disease Eyebrow/eyelashes distichiasis MONDO MONDO:0020190 17 Apr 2020 Disease Eyebrow/eyelashes hypertrichosis MONDO MONDO:0020185 17 Apr 2020 Disease Eyebrow/eyelashes pigmentation anomaly MONDO MONDO:0020191 17 Apr 2020 Disease Eyebrow/eyelashes structural anomaly MONDO MONDO:0020189 17 Apr 2020 Disease Eyebrows laterally sparse and flairin 23 Jan 2020 Finding Eyebrows laterally sparse and flairing 23 Jan 2020 Finding Eyelashes hypertrophy MONDO MONDO:0020187 17 Apr 2020 Disease Eyelid apraxia Human Phenotype Ontology C1142448 HP:0000658 16 Feb 2016 Finding Eyelid border anomaly MONDO CN227800 MONDO:0020155 17 Apr 2020 Disease Eyelid cancer MONDO MONDO:0021313 17 Apr 2020 Disease Eyelid capillary hemangioma MONDO C0339110 MONDO:0021627 17 Apr 2020 Disease Eyelid carcinoma MONDO C0920196 MONDO:0003876 17 Apr 2020 Disease Eyelid deformation CN235523 15 Mar 2016 Finding Eyelid degenerative disease MONDO C0155209 MONDO:0000941 17 Apr 2020 Disease Eyelid disease MONDO MONDO:0003382 17 Apr 2020 Disease Eyelid fasciculation Human Phenotype Ontology C4280682 HP:0030826 02 Apr 2017 Finding Eyelid hypopigmentation MONDO C0155212 MONDO:0006561 17 Apr 2020 Disease Eyelid melanoma MONDO C0339116 MONDO:0000928 17 Apr 2020 Disease Eyelid myoclonias Human Phenotype Ontology C4551850 HP:0011168 16 Feb 2016 Finding Eyelid myoclonus Human Phenotype Ontology C0751349 HP:0025097 02 Apr 2017 Finding Eyelid myokymia Human Phenotype Ontology C4324277 HP:0031166 04 Apr 2018 Finding Eyelid neoplasm MONDO C0015424 MONDO:0002235 17 Apr 2020 Disease Eyelid sebaceous gland carcinoma MONDO C4525405 MONDO:0021588 17 Apr 2020 Disease Eyelid seborrheic keratosis MONDO C0339109 MONDO:0021607 17 Apr 2020 Disease Eyelids malposition disorder MONDO CN227803 MONDO:0020158 17 Apr 2020 Disease Ezetimibe response NCBI curation C1842722 16 Feb 2016 Pharmacological response EZETIMIBE, RESPONSE TO CN244918 11 May 2018 Disease F12-Related Disorders CN239389 02 Dec 2016 Disease F2-Related Disorders 23 May 2019 Disease FAAH POLYMORPHISM 06 Apr 2019 Disease Fabry disease NCBI curation C0002986 301500 16 Feb 2016 Disease Fabry disease, cardiac variant NCBI curation C1970820 16 Feb 2016 Disease Face disease MONDO C1290857 MONDO:0044987 17 Apr 2020 Disease FACES syndrome 16 Feb 2016 Disease Facet joint arthrosis Human Phenotype Ontology C4280734 HP:0030871 02 Apr 2017 Finding Facial abnormalities, kyphoscoliosis, and mental retardation NCBI curation C1856893 227250 16 Feb 2016 Disease facial abnormality CN224012 16 Feb 2016 Finding Facial arteriovenous malformation MONDO CN226690 MONDO:0015500 17 Apr 2020 Disease Facial asymetry temporal seizures 16 Feb 2016 Disease Facial asymmetry Human Phenotype Ontology C1306710 HP:0000324 16 Feb 2016 Finding Facial capillary hemangioma Human Phenotype Ontology C1858545 HP:0000996 16 Feb 2016 Finding Facial cleft Human Phenotype Ontology C0685787 HP:0002006 16 Feb 2016 Finding Facial clefting corpus callosum agenesis 16 Feb 2016 Disease facial congenital malformation 05 Sep 2019 Finding Facial dermatosis MONDO C0015456 MONDO:0006548 17 Apr 2020 Disease Facial dermoid cyst MONDO C4706321 MONDO:0015380 17 Apr 2020 Disease Facial diplegia Human Phenotype Ontology C1836003 HP:0001349 16 Feb 2016 Finding Facial diplegia with paresthesias MONDO CN776915 MONDO:0018818 17 Apr 2020 Disease facial dysmorphism C0266617 16 Feb 2016 Disease facial dysmorphism with a high arched palate, low-set ears, and micrognathia 13 Feb 2020 Finding Facial dysmorphism with multiple malformations NCBI curation C1856892 227255 16 Feb 2016 Disease Facial dysmorphism, cleft palate, hearing loss, and camptodactyly NCBI curation C1865203 602556 16 Feb 2016 Disease FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME OMIM C5193066 618381 618381 14 Apr 2019 Disease Facial dysmorphism, immunodeficiency, livedo, and short stature NCBI curation C3554576 615139 16 Feb 2016 Disease Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs NCBI curation C1832167 601552 24 Aug 2016 Disease Facial dysmorphism, selective tooth agenesis, and choroid calcification NCBI curation C1970343 603589 16 Feb 2016 Disease Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome MONDO C2931183 MONDO:0016031 17 Apr 2020 Disease Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion MONDO C5190804 MONDO:0017283 17 Apr 2020 Disease Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome MONDO C1857352 MONDO:0009074 220219 17 Apr 2020 Disease Facial dysmorphism-shawl scrotum-joint laxity syndrome MONDO C2931522 MONDO:0015781 07 Jun 2020 Disease facial dysmorphisms CN221668 16 Feb 2016 Finding Facial dysmorphology CN235236 19 Feb 2016 Finding Facial edema Human Phenotype Ontology C0542571 HP:0000282 16 Feb 2016 Finding Facial erythema Human Phenotype Ontology C0239488 HP:0001041 16 Feb 2016 Finding Facial features CN236432 13 May 2016 Finding Facial features resembling Noonan Syndrome CN235524 15 Mar 2016 Finding Facial flushing after alcohol intake Human Phenotype Ontology C4025808 HP:0001033 16 Feb 2016 Finding Facial grimacing Human Phenotype Ontology C0234853 HP:0000273 16 Feb 2016 Finding Facial hemangioma Human Phenotype Ontology C1861443 HP:0000329 16 Feb 2016 Finding Facial hemiatrophy Human Phenotype Ontology C0015458 HP:0011331 141300 10 Apr 2018 Disease Facial hirsutism Human Phenotype Ontology C1850041 HP:0009937 16 Feb 2016 Finding Facial hyperostosis Human Phenotype Ontology C1857501 HP:0005465 16 Feb 2016 Finding Facial hypertrichosis Human Phenotype Ontology C1851400 HP:0002219 134000 16 Feb 2016 Disease Facial hypotonia Human Phenotype Ontology C1845251 HP:0000297 16 Feb 2016 Finding Facial midline hemangioma Human Phenotype Ontology C1862496 HP:0004664 16 Feb 2016 Finding Facial muscle hypertrophy Human Phenotype Ontology C4022691 HP:0012892 16 Feb 2016 Finding Facial myokymia Human Phenotype Ontology C0270871 HP:0000317 16 Feb 2016 Finding Facial neoplasm Human Phenotype Ontology C0015461 HP:0012289 16 Feb 2016 Finding Facial nerve disease MONDO C0015464 MONDO:0002098 17 Apr 2020 Disease Facial nerve neoplasm MONDO C1263899 MONDO:0002101 17 Apr 2020 Disease Facial nerve palsy due to herpes zoster infection MONDO C0017409 MONDO:0017606 04 Jun 2020 Infectious disease Facial neuralgia MONDO C0015467 MONDO:0001818 17 Apr 2020 Disease Facial onset sensory and motor neuronopathy MONDO C4509818 MONDO:0019405 17 Apr 2020 Disease Facial palsy Human Phenotype Ontology C1858719 HP:0010628 16 Feb 2016 Finding Facial palsy secondary to cranial hyperostosis Human Phenotype Ontology C1849260 HP:0007285 16 Feb 2016 Finding FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION OMIM C4540277 617732 617732 29 Oct 2017 Disease Facial palsy, familial recurrent peripheral NCBI curation C1851399 134200 16 Feb 2016 Disease Facial papilloma Human Phenotype Ontology C0343643 HP:0040167 16 Feb 2016 Finding Facial paralysis Human Phenotype Ontology C0015469 HP:0007209 16 Feb 2016 Finding Facial shape deformation Human Phenotype Ontology C4021159 HP:0011334 16 Feb 2016 Finding Facial spasm NCBI curation C0278151 134300 16 Feb 2016 Disease Facial telangiectasia Human Phenotype Ontology C0858684 HP:0007380 16 Feb 2016 Finding Facial telangiectasia in butterfly midface distribution Human Phenotype Ontology C4021632 HP:0005598 16 Feb 2016 Finding Facial wrinkling Human Phenotype Ontology C0262478 HP:0009762 16 Feb 2016 Finding Facial-lingual fasciculations Human Phenotype Ontology C1862359 HP:0007089 16 Feb 2016 Finding Facies of cardio-facio cutaneous syndrome CN235293 20 Feb 2016 Finding Facies unusual arthrogryposis advanced skeletal malformations 16 Feb 2016 Disease Facio digito genital syndrome recessive form 16 Feb 2016 Disease Facio skeletal genital syndrome Rippberger type 16 Feb 2016 Disease Facio thoraco genital syndrome 16 Feb 2016 Disease Faciocardiomelic dysplasia, lethal NCBI curation C1856891 227270 16 Feb 2016 Disease Faciocardiomelic syndrome NCBI curation C2674798 612731 16 Feb 2016 Disease Faciocardiorenal syndrome C0795936 227280 16 Feb 2016 Disease Faciodigitogenital syndrome, autosomal recessive NCBI curation C1856871 227330 24 Aug 2016 Disease Faciogenital dysplasia with attention deficit-hyperactivity disorder NCBI curation 16 Feb 2016 Disease Facioscapulohumeral muscular dystrophy NCBI curation C0238288 05 Nov 2019 Disease Facioscapulohumeral muscular dystrophy 1a NCBI curation C1834673 158900 05 Nov 2019 Disease Facioscapulohumeral muscular dystrophy 2 NCBI curation C1834671 158901 16 Feb 2016 Disease Faciothoracogenital syndrome NCBI curation C2931184 227320 16 Feb 2016 Disease Factitious disorder MONDO C0015480 MONDO:0002103 17 Apr 2020 Disease Factor 2 deficiency 16 Feb 2016 Disease Factor B fast/slow polymorphism NCBI curation 16 Feb 2016 Named protein variant Factor H deficiency C0398777 609814 16 Feb 2016 Disease Factor ix and factor xi, combined deficiency of NCBI curation C1851374 134540 16 Feb 2016 Disease FACTOR IX POLYMORPHISM 16 Feb 2016 Disease FACTOR IX, DNA POLYMORPHISM 16 Feb 2016 Disease Factor v and factor viii, combined deficiency of, 2 NCBI curation C3150889 613625 16 Feb 2016 Disease Factor V deficiency NCBI curation C0015499 227400 16 Feb 2016 Disease Factor V excess with spontaneous thrombosis NCBI curation C1851378 134400 16 Feb 2016 Disease Factor V Hong Kong NCBI curation C4017271 16 Feb 2016 Named protein variant Factor V Leiden response CN231745 16 Feb 2016 Disease Factor VII deficiency C0015503 227500 16 Feb 2016 Disease Factor vii harrow NCBI curation 16 Feb 2016 Disease Factor VII Marburg I Variant Thrombophilia NCBI curation CN068943 16 Feb 2016 Disease Factor VII Padua NCBI curation C0214776 16 Feb 2016 Disease FACTOR VII-ACTIVATING PROTEASE MARBURG I POLYMORPHISM 16 Feb 2016 Disease FACTOR VIII (EAST HARTFORD) 16 Feb 2016 Disease FACTOR VIII (OKAYAMA) 16 Feb 2016 Disease Factor VIII deficiency NCBI curation C3494187 134500 23 Nov 2016 Disease FACTOR VIII POLYMORPHISM 16 Feb 2016 Disease Factor X activation deficiency Human Phenotype Ontology C4024693 HP:0008354 16 Feb 2016 Finding Factor X deficiency C0015519 227600 16 Feb 2016 Disease Factor x deficiency, autosomal dominant NCBI curation 16 Feb 2016 Disease Factor X deficiency, congenital 16 Feb 2016 Disease Factor XI deficiency, congenital 16 Feb 2016 Disease FACTOR XII (LOCARNO) 16 Feb 2016 Disease FACTOR XII (TENRI) 16 Feb 2016 Disease FACTOR XII (WASHINGTON D.C.) 16 Feb 2016 Disease Factor XII deficiency disease C0015526 234000 16 Feb 2016 Disease FACTOR XII POLYMORPHISM 16 Feb 2016 Disease Factor XIII deficiency 16 Feb 2016 Disease Factor XIII subunit A deficiency Human Phenotype Ontology C2750514 HP:0040233 613225 04 Apr 2018 Disease Factor XIII, b subunit, deficiency of MONDO C2750481 MONDO:0013190 613235 22 Apr 2020 Disease Factors viii, ix and xi, combined deficiency of NCBI curation C1851375 134520 16 Feb 2016 Disease Failure of eruption of permanent teeth Human Phenotype Ontology C4025056 HP:0006352 16 Feb 2016 Finding Failure of tooth eruption, primary NCBI curation C1852222 125350 16 Feb 2016 Disease failure to gain weight C0231246 11 May 2019 Finding Failure to thrive Human Phenotype Ontology C2315100 HP:0001508 16 Feb 2016 Finding Failure to thrive in infancy Human Phenotype Ontology C1867873 HP:0001531 16 Feb 2016 Finding Failure to thrive secondary to recurrent infections Human Phenotype Ontology C1832323 HP:0008866 16 Feb 2016 Finding failure to thrive, feeding issues, multiple papillomata, skeletal anomalies, foot deformities, developmental delay CN235272 19 Feb 2016 Finding Fair hair Human Phenotype Ontology C1849221 HP:0002286 16 Feb 2016 Finding Fairbank disease 16 Feb 2016 Disease Falciform fold in macula 20 Jun 2019 Finding Falciform retinal fold Human Phenotype Ontology C0344550 HP:0001493 16 Feb 2016 Finding Fallopian tube adenocarcinoma MONDO C1333590 MONDO:0002746 17 Apr 2020 Disease Fallopian tube adenomatoid tumor MONDO C1517110 MONDO:0003328 17 Apr 2020 Disease Fallopian tube adenosarcoma MONDO C1517121 MONDO:0002162 17 Apr 2020 Disease Fallopian tube benign neoplasm MONDO C0346190 MONDO:0000645 17 Apr 2020 Disease fallopian tube cancer CN235595 19 Mar 2016 Finding Fallopian tube carcinosarcoma MONDO C1517117 MONDO:0006207 17 Apr 2020 Disease Fallopian tube clear cell adenocarcinoma MONDO C1333591 MONDO:0003383 17 Apr 2020 Disease Fallopian tube cyst Human Phenotype Ontology C0269173 HP:0012883 16 Feb 2016 Finding Fallopian tube cystadenofibroma MONDO C1517111 MONDO:0004501 17 Apr 2020 Disease Fallopian tube disease MONDO C0015556 MONDO:0002156 17 Apr 2020 Disease Fallopian tube duplication Human Phenotype Ontology C0266375 HP:0012885 16 Feb 2016 Finding Fallopian tube endometrioid adenocarcinoma MONDO C1333592 MONDO:0003666 17 Apr 2020 Disease Fallopian tube endometrioid tumor MONDO C1517113 MONDO:0021576 17 Apr 2020 Disease Fallopian tube endometriosis MONDO C0014177 MONDO:0001282 17 Apr 2020 Disease Fallopian tube germ cell tumor MONDO C1517114 MONDO:0003392 17 Apr 2020 Disease Fallopian tube gestational choriocarcinoma MONDO C1333593 MONDO:0004489 17 Apr 2020 Disease Fallopian tube leiomyoma MONDO C1517115 MONDO:0003285 17 Apr 2020 Disease Fallopian tube leiomyosarcoma MONDO C1517116 MONDO:0002159 17 Apr 2020 Disease Fallopian tube mucinous adenocarcinoma MONDO C1517119 MONDO:0002744 17 Apr 2020 Disease Fallopian tube mucinous tumor MONDO C1517120 MONDO:0002745 17 Apr 2020 Disease Fallopian tube papillary adenocarcinoma MONDO C1333595 MONDO:0003535 17 Apr 2020 Disease Fallopian tube papilloma MONDO C1517123 MONDO:0002534 17 Apr 2020 Disease Fallopian tube serous adenocarcinoma MONDO C1517124 MONDO:0006208 17 Apr 2020 Disease Fallopian tube serous adenofibroma MONDO C1517109 MONDO:0003461 17 Apr 2020 Disease Fallopian tube squamous cell carcinoma MONDO C1333596 MONDO:0003503 17 Apr 2020 Disease Fallopian tube teratoma MONDO C1517127 MONDO:0003515 17 Apr 2020 Disease Fallopian tube torsion Human Phenotype Ontology C0269169 HP:0012884 16 Feb 2016 Finding Fallopian tube transitional cell carcinoma MONDO C1517128 MONDO:0002833 17 Apr 2020 Disease Fallot complex-intellectual disability-growth delay syndrome MONDO C1832735 MONDO:0010999 601127 17 Apr 2020 Disease Falls Human Phenotype Ontology C0085639 HP:0002527 16 Feb 2016 Finding FAM177A1-related disorder 07 May 2020 Finding Familial abdominal aortic aneurysm Orphanet C4275172 ORPHA86 16 Feb 2016 Disease Familial abdominal aortic aneurysm 1 NCBI curation C1853365 100070 16 Feb 2016 Disease Familial acne inversa 1 NCBI curation C4551962 142690 16 Feb 2016 Disease Familial adenomatous polyposis CN240755 01 Mar 2017 Disease Familial adenomatous polyposis 1 NCBI curation C2713442 175100 16 Feb 2016 Disease Familial adenomatous polyposis 3 NCBI curation C4225157 616415 16 Feb 2016 Disease Familial adenomatous polyposis 4 NCBI curation C4310719 617100 20 Jun 2017 Disease Familial adenomatous polyposis due to 5q22.2 microdeletion MONDO CN202203 MONDO:0016860 17 Apr 2020 Disease Familial adult myoclonic epilepsy NCBI curation CN263126 11 Jan 2020 Disease Familial advanced sleep phase syndrome 1 NCBI curation C3807327 604348 06 Nov 2016 Disease Familial Alzheimer disease MONDO C0276496 MONDO:0100087 22 Apr 2020 Disease Familial Alzheimer-like prion disease MONDO C4303482 MONDO:0017233 04 Jun 2020 Infectious disease Familial amyloid nephropathy with urticaria AND deafness C0268390 191900 16 Feb 2016 Disease Familial amyloid polyneuropathy, Iowa type NCBI curation C4551500 16 Feb 2016 Disease Familial anetoderma MONDO C4518793 MONDO:0016445 17 Apr 2020 Disease Familial aortic aneurysms CN240757 01 Mar 2017 Disease Familial aortopathy NCBI curation CN078214 16 Feb 2016 Disease Familial arteriosclerotic leukoencephalopathy, alopecia, lumbago without arterial hypertension 16 Feb 2016 Disease Familial atrial fibrillation Orphanet C3468561 ORPHA334 16 Feb 2016 Disease Familial atrial myxoma MONDO C2931787 MONDO:0009719 255960 22 Apr 2020 Disease Familial Atypical Hemolytic-Uremic Syndrome C4055018 02 Nov 2018 Disease Familial Atypical Mycobacteriosis, Autosomal Dominant CN239224 02 Dec 2016 Disease Familial Atypical Mycobacteriosis, Autosomal Recessive CN239257 02 Dec 2016 Disease Familial atypical mycobacteriosis, type 1, X-linked NCBI curation C1970879 300636 16 Feb 2016 Disease Familial avascular necrosis of the femoral head NCBI curation C4275066 28 Mar 2017 Disease Familial band heterotopia 16 Feb 2016 Disease Familial benign copper deficiency MONDO C1852576 MONDO:0007368 121270 22 Apr 2020 Disease Familial benign pemphigus C0085106 169600 16 Feb 2016 Disease Familial breast and ovarian cancer 08 May 2020 Disease Familial calcium pyrophosphate deposition MONDO C0856830 MONDO:0007319 118600 17 Apr 2020 Disease Familial cancer of breast NCBI curation C0006142 114480 16 Feb 2016 Disease Familial Candidiasis, Dominant CN239233 02 Dec 2016 Disease Familial Candidiasis, Recessive CN239217 02 Dec 2016 Disease Familial capillaro-venous leptomeningeal angiomatosis C2931262 16 Feb 2016 Disease Familial cardiomyopathy NCBI curation C0264789 16 Feb 2016 Disease Familial cervical artery dissection MONDO C4755308 MONDO:0018212 17 Apr 2020 Disease Familial chronic mucocutaneous candidiasis NCBI curation C0341024 613108 16 Feb 2016 Disease Familial chronic myelocytic leukemia-like syndrome MONDO C1838670 MONDO:0010809 600080 22 Apr 2020 Disease Familial chylomicronemia syndrome Orphanet CN231410 ORPHA444490 13 Aug 2016 Disease Familial cirrhosis NCBI curation C1861556 118900 16 Feb 2016 Disease Familial cirrhosis NCBI curation C1861556 215600 16 Feb 2016 Disease Familial cirrhosis with pulmonary hypertension NCBI curation 16 Feb 2016 Disease Familial clubfoot due to 5q31 microdeletion MONDO CN203109 MONDO:0017382 17 Apr 2020 Disease Familial clubfoot due to PITX1 point mutation MONDO CN203110 MONDO:0017383 17 Apr 2020 Disease Familial clubfoot with or without associated lower limb anomalies MONDO CN200725 MONDO:0016046 17 Apr 2020 Disease Familial cold autoinflammatory syndrome OMIM phenotypic series C0343068 PS120100 16 Feb 2016 Disease Familial cold autoinflammatory syndrome 2 NCBI curation C2673198 611762 16 Feb 2016 Disease FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, SUSCEPTIBILITY TO 17 May 2018 Disease Familial cold autoinflammatory syndrome 3 NCBI curation C3280914 614468 16 Feb 2016 Disease Familial cold autoinflammatory syndrome 4 NCBI curation C4015276 616115 16 Feb 2016 Disease Familial cold inflammatory syndrome 1 CN259025 13 Jun 2019 Disease Familial cold urticaria C4551895 120100 16 Feb 2016 Disease Familial colorectal cancer type X MONDO C3896578 MONDO:0018604 17 Apr 2020 Disease Familial congenital palsy of trochlear nerve MONDO C1850996 MONDO:0007626 136480 17 Apr 2020 Disease Familial cutaneous collagenoma C0406817 115250 16 Feb 2016 Disease Familial cystic renal disease MONDO CN206655 MONDO:0019741 17 Apr 2020 Disease Familial deafness 16 Feb 2016 Disease Familial dermatographia MONDO C1852145 MONDO:0007448 125635 17 Apr 2020 Disease Familial dilated cardiomyopathy Orphanet C0340427 ORPHA217607 16 Feb 2016 Disease Familial dilated cardiomyopathy and peripheral neuropathy 10 Oct 2019 Disease Familial dysautonomia C0013364 223900 16 Feb 2016 Disease Familial dyskeratotic comedones NCBI curation C0345424 120450 16 Feb 2016 Disease Familial early-onset deep venous thrombosis 11 Oct 2017 Disease Familial emphysema 16 Feb 2016 Disease Familial eosinophilia NCBI curation C0272192 131400 16 Feb 2016 Disease Familial episodic pain syndrome OMIM phenotypic series C5190598 PS615040 16 Feb 2016 Disease Familial episodic pain syndrome 1 NCBI curation C3808667 615040 16 Feb 2016 Disease Familial Episodic Pain Syndrome 4 CN230075 16 Feb 2016 Disease Familial Episodic Pain Syndrome 5 CN230076 16 Feb 2016 Disease Familial Episodic Pain Syndrome 6 CN230072 16 Feb 2016 Disease Familial Episodic Pain Syndrome 7 CN230073 16 Feb 2016 Disease Familial Episodic Pain Syndrome 8 CN230074 16 Feb 2016 Disease Familial erythrocytosis NCBI curation C0152264 16 Feb 2016 Disease Familial expansile osteolysis C0432292 174810 16 Feb 2016 Disease Familial exudative vitreoretinopathy NCBI curation C0339539 16 Feb 2016 Disease Familial exudative vitreoretinopathy, autosomal dominant NCBI curation CN118824 16 Feb 2016 Disease Familial exudative vitreoretinopathy, X-linked GeneReviews C1844579 NBK1331 305390 16 Feb 2016 Disease Familial febrile seizures NCBI curation CN239386 28 Dec 2019 Disease Familial febrile seizures 8 NCBI curation C1969810 611277 16 Feb 2016 Disease Familial flecked retinopathy MONDO MONDO:0016420 17 Apr 2020 Disease Familial focal epilepsy with variable foci NCBI curation C1858477 11 Jan 2020 Disease Familial gastric type 1 neuroendocrine tumor CN248522 19 Jun 2018 Disease Familial GGE 29 Jan 2020 Disease Familial glomangioma MONDO C1333987 MONDO:0004424 17 Apr 2020 Disease Familial hematuria NCBI curation C1305904 02 Jul 2017 Disease Familial hemiplegic migraine C0338484 16 Feb 2016 Disease Familial hemiplegic migraine type 1 NCBI curation C1832884 141500 16 Feb 2016 Disease Familial hemiplegic migraine type 2 NCBI curation C1865322 602481 16 Feb 2016 Disease Familial hemiplegic migraine type 3 NCBI curation C1864987 609634 16 Feb 2016 Disease Familial hemolytic anemia MONDO MONDO:0003689 17 Apr 2020 Disease Familial hemophagocytic lymphohistiocytosis NCBI curation C0272199 16 Feb 2016 Disease Familial hemophagocytic lymphohistiocytosis 1 NCBI curation C4551514 267700 16 Feb 2016 Disease Familial hemophagocytic lymphohistiocytosis 2 MONDO C1863727 MONDO:0011337 603553 22 Apr 2020 Disease Familial hemophagocytic lymphohistiocytosis 3 MONDO C1837174 MONDO:0012146 608898 22 Apr 2020 Disease Familial hemophagocytic lymphohistiocytosis 4 MONDO C1863728 MONDO:0011336 603552 22 Apr 2020 Disease Familial High Density Lipoprotein Deficiency CN239346 02 Dec 2016 Disease Familial hyperaldosteronism Orphanet C3713420 ORPHA235936 16 Feb 2016 Disease Familial hyperaldosteronism type 3 NCBI curation C3150933 613677 16 Feb 2016 Disease Familial hyperbeta- and prebetalipoproteinemia NCBI curation 16 Feb 2016 Disease Familial hypercholesterolemia NCBI curation C0020445 15 Jan 2020 Disease Familial hypercholesterolemia NCBI curation C0020445 143890 15 Jan 2020 Disease Familial hypercholesterolemia 1 NCBI curation C0745103 143890 17 Jan 2020 Disease Familial hypercholesterolemia 2 NCBI curation C1704417 144010 15 Jan 2020 Disease Familial hypercholesterolemia 3 NCBI curation C1863551 603776 15 Jan 2020 Disease Familial hypercholesterolemia 4 NCBI curation C1863512 603813 15 Jan 2020 Disease Familial hypercholesterolemia with hyperlipemia NCBI curation 16 Feb 2016 Disease Familial hyperinsulinemia 14 Mar 2019 Disease Familial hyperinsulinism NCBI curation C3888018 16 Feb 2016 Disease Familial hyperkalemic periodic paralysis NCBI curation C0238357 16 Feb 2016 Disease Familial hyperlipidemia MONDO MONDO:0001336 17 Apr 2020 Disease Familial hypertriglyceridemia NCBI curation C0020480 145750 16 Feb 2016 Disease Familial hypertrophic cardiomyopathy 1 NCBI curation C3495498 192600 16 Feb 2016 Disease Familial hypertrophic cardiomyopathy 10 NCBI curation C1834460 608758 16 Feb 2016 Disease Familial hypertrophic cardiomyopathy 11 NCBI curation C2677506 612098 16 Feb 2016 Disease Familial hypertrophic cardiomyopathy 12 NCBI curation C2677491 612124 16 Feb 2016 Disease Familial hypertrophic cardiomyopathy 13 NCBI curation C2750472 613243 16 Feb 2016 Disease Familial hypertrophic cardiomyopathy 14 NCBI curation C2750467 613251 16 Feb 2016 Disease Familial hypertrophic cardiomyopathy 15 NCBI curation C2750459 613255 16 Feb 2016 Disease Familial hypertrophic cardiomyopathy 16 NCBI curation C3151204 613838 16 Feb 2016 Disease Familial hypertrophic cardiomyopathy 17 NCBI curation C3151264 613873 16 Feb 2016 Disease Familial hypertrophic cardiomyopathy 18 NCBI curation C3151265 613874 16 Feb 2016 Disease Familial hypertrophic cardiomyopathy 19 NCBI curation 16 Feb 2016 Disease Familial hypertrophic cardiomyopathy 2 NCBI curation C1861864 115195 16 Feb 2016 Disease Familial hypertrophic cardiomyopathy 20 NCBI curation C3151267 613876 16 Feb 2016 Disease Familial hypertrophic cardiomyopathy 21 NCBI curation C3553442 614676 16 Feb 2016 Disease Familial hypertrophic cardiomyopathy 22 NCBI curation C3714998 16 Feb 2016 Disease Familial hypertrophic cardiomyopathy 23 NCBI curation CN229563 16 Feb 2016 Disease Familial hypertrophic cardiomyopathy 24 NCBI curation CN229629 16 Feb 2016 Disease Familial hypertrophic cardiomyopathy 3 NCBI curation C1861863 115196 16 Feb 2016 Disease Familial hypertrophic cardiomyopathy 4 NCBI curation C1861862 115197 16 Feb 2016 Disease Familial hypertrophic cardiomyopathy 6 NCBI curation C1833236 600858 16 Feb 2016 Disease Familial hypertrophic cardiomyopathy 7 NCBI curation C1860752 613690 16 Feb 2016 Disease Familial hypertrophic cardiomyopathy 8 NCBI curation C1837471 608751 16 Feb 2016 Disease Familial hypertrophic cardiomyopathy 9 NCBI curation C1861065 613765 16 Feb 2016 Disease Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome CN239247 02 Dec 2016 Disease Familial hypo-rbp NCBI curation 16 Feb 2016 Disease Familial hypoalphalipoproteinemia NCBI curation C5231558 604091 25 May 2017 Disease Familial hypobetalipoproteinemia NCBI curation C1862596 11 Apr 2016 Disease Familial hypocalciuric hypercalcemia NCBI curation C1809471 16 Feb 2016 Disease Familial hypofibrinogenemia MONDO CN263899 MONDO:0015096 22 Apr 2020 Disease Familial hypokalemia-hypomagnesemia C0268450 263800 16 Feb 2016 Disease Familial hypokalemic alkalosis, Gullner type C0268444 241150 16 Feb 2016 Disease Familial Hypophosphatemic Rickets 01 Feb 2018 Disease Familial hypopituitarism 16 Feb 2016 Disease Familial hypoplastic, glomerulocystic kidney C0431693 137920 16 Feb 2016 Disease Familial hypospadias Orphanet CN205090 ORPHA440 16 Feb 2016 Disease Familial hypothyroidism 16 Feb 2016 Disease Familial idiopathic dilatation of the right atrium MONDO CN200093 MONDO:0015666 17 Apr 2020 Disease Familial idiopathic hypercalciuria NCBI curation C0342639 143870 16 Feb 2016 Disease Familial idiopathic osteoarthropathy of childhood NCBI curation 16 Feb 2016 Disease Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation MONDO MONDO:0019652 17 Apr 2020 Disease Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis MONDO MONDO:0019654 17 Apr 2020 Disease Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes MONDO MONDO:0019653 17 Apr 2020 Disease Familial idiopathic torsion dystonia MONDO MONDO:0044816 17 Apr 2020 Disease Familial infantile myasthenia C0393929 254210 16 Feb 2016 Disease Familial interstitial fibrosis 16 Feb 2016 Disease Familial Interstitial Pneumonia 07 Apr 2020 Disease Familial intestinal malrotation-facial anomalies syndrome MONDO MONDO:0016583 17 Apr 2020 Disease Familial isolated arrhythmogenic right ventricular dysplasia MONDO C4274968 MONDO:0016342 17 Apr 2020 Disease Familial isolated arrhythmogenic ventricular dysplasia, biventricular form MONDO CN203146 MONDO:0017402 17 Apr 2020 Disease Familial isolated arrhythmogenic ventricular dysplasia, left dominant form MONDO CN203145 MONDO:0017401 17 Apr 2020 Disease Familial isolated arrhythmogenic ventricular dysplasia, right dominant form MONDO CN203147 MONDO:0017403 17 Apr 2020 Disease Familial isolated complete right bundle branch block C0340504 113950 16 Feb 2016 Disease Familial isolated deficiency of vitamin E MONDO C1848533 MONDO:0010188 277460 17 Apr 2020 Disease Familial isolated dilated cardiomyopathy CN257735 17 Oct 2018 Disease Familial isolated hyperparathyroidism C4551961 17 Oct 2018 Disease Familial isolated hypoparathyroidism Orphanet C1832648 ORPHA2238 146200 23 Mar 2020 Disease Familial isolated hypoparathyroidism due to impaired PTH secretion MONDO CN200646 MONDO:0016000 17 Apr 2020 Disease Familial Isolated Pituitary Adenomas CN239192 02 Dec 2016 Disease Familial isolated restrictive cardiomyopathy NCBI curation CN570501 29 Oct 2017 Disease Familial isolated trichomegaly MONDO C4706941 MONDO:0018472 17 Apr 2020 Disease Familial juvenile gout C4551496 162000 16 Feb 2016 Disease Familial juvenile hyperuricemic nephropathy NCBI curation CN239392 28 Dec 2016 Disease Familial keratoacanthoma MONDO C4083047 MONDO:0018851 132800 17 Apr 2020 Disease Familial lambdoid synostosis MONDO C4707866 MONDO:0017984 17 Apr 2020 Disease Familial leiomyomatosis MONDO CN280427 MONDO:0023616 22 Apr 2020 Disease Familial Mediterranean fever NCBI curation C0031069 249100 16 Feb 2016 Disease Familial mediterranean fever, autosomal dominant NCBI curation C1851347 134610 16 Feb 2016 Disease Familial medullary thyroid carcinoma NCBI curation C1833921 155240 16 Feb 2016 Disease Familial mesial temporal lobe epilepsy with febrile seizures MONDO C5191318 MONDO:0013742 17 Apr 2020 Disease Familial methionine malabsorption C0268622 250900 16 Feb 2016 Disease Familial mitral valve prolapse Orphanet C0340364 ORPHA741 06 Nov 2017 Disease Familial monosomy 7 syndrome MONDO CN258546 MONDO:0044645 17 Apr 2020 Disease Familial multiple discoid fibromas MONDO C1860850 MONDO:0008594 190340 22 Apr 2020 Disease Familial multiple fibrofolliculoma MONDO CN282494 MONDO:0018070 07 Jun 2020 Disease Familial multiple polyposis syndrome NCBI curation C0032580 16 Feb 2016 Disease Familial multiple trichoepitheliomata C1275122 601606 16 Feb 2016 Disease Familial myelofibrosis C2931351 16 Feb 2016 Disease Familial myoclonus NCBI curation CN263131 11 Jan 2020 Disease Familial nasal acilia C4706505 16 Feb 2016 Disease Familial neurocardiogenic syncope 16 Feb 2016 Disease Familial non-immune hyperthyroidism 16 Feb 2016 Disease Familial normokalemic periodic paralysis C0268445 170600 16 Feb 2016 Disease Familial omphalocele syndrome with facial dysmorphism MONDO C4749579 MONDO:0017235 17 Apr 2020 Disease Familial opposable triphalangeal thumbs duplication 16 Feb 2016 Disease Familial osteoarthropathy of the fingers C0264081 165700 16 Feb 2016 Disease Familial osteosclerosis MONDO MONDO:0042973 17 Apr 2020 Disease Familial ovarian cancer MONDO CN201036 MONDO:0016248 17 Apr 2020 Disease Familial pancreatic carcinoma NCBI curation C2931038 16 Feb 2016 Disease Familial papillary or follicular thyroid carcinoma MONDO C3896673 MONDO:0017895 17 Apr 2020 Disease Familial partial epilepsy CN262432 15 Oct 2019 Disease Familial partial lipodystrophy NCBI curation C0271694 16 Feb 2016 Disease Familial partial lipodystrophy 1 NCBI curation C1720859 608600 16 Feb 2016 Disease Familial partial lipodystrophy 2 NCBI curation C1720860 151660 16 Feb 2016 Disease Familial partial lipodystrophy 3 NCBI curation C1720861 604367 16 Feb 2016 Disease Familial partial lipodystrophy 4 NCBI curation C3151268 613877 16 Feb 2016 Disease Familial partial lipodystrophy 5 NCBI curation C3808940 615238 16 Feb 2016 Disease Familial partial lipodystrophy 6 NCBI curation C4014869 615980 16 Feb 2016 Disease Familial partial paralysis CN035928 16 Feb 2016 Disease Familial patent arterial duct MONDO CN242171 MONDO:0018758 17 Apr 2020 Disease Familial Periodic Fever CN239390 02 Dec 2016 Disease Familial periodic paralysis C0030443 16 Feb 2016 Disease Familial platelet disorder with associated myeloid malignancy NCBI curation C1832388 601399 16 Feb 2016 Disease Familial porencephaly C1867983 18 Jun 2016 Disease Familial porphyria cutanea tarda C0268323 176100 16 Feb 2016 Disease Familial predisposition NCBI curation 27 Feb 2018 Finding Familial primary hyperparathyroidism MONDO CN259010 MONDO:0016365 22 Apr 2020 Disease Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis MONDO CN203511 MONDO:0017624 17 Apr 2020 Disease Familial primary hypomagnesemia with hypocalcuria MONDO CN227163 MONDO:0017625 17 Apr 2020 Disease Familial primary hypomagnesemia with normocalciuria and normocalcemia MONDO C4510731 MONDO:0018101 17 Apr 2020 Disease Familial primary hypomagnesemia with normocalcuria MONDO CN227164 MONDO:0017626 17 Apr 2020 Disease Familial primary localized cutaneous amyloidosis MONDO CN204529 MONDO:0007101 17 Apr 2020 Disease Familial progressive hyper- and hypopigmentation MONDO CN202743 MONDO:0017239 17 Apr 2020 Disease Familial progressive hyperpigmentation with or without hypopigmentation NCBI curation C1840392 145250 16 Feb 2016 Disease Familial prostate cancer C2931456 16 Feb 2016 Disease Familial pterygium of the conjunctiva MONDO C1867441 MONDO:0008337 178000 17 Apr 2020 Disease Familial pulmonary arterial hypertension leucopenia and atrial septal defect 16 Feb 2016 Disease Familial renal cell carcinoma 16 Feb 2016 Disease Familial renal glucosuria NCBI curation C0017980 233100 16 Feb 2016 Disease Familial renal hypouricemia C0473219 220150 16 Feb 2016 Disease Familial restrictive cardiomyopathy OMIM phenotypic series C0340429 PS115210 16 Feb 2016 Disease Familial restrictive cardiomyopathy 1 NCBI curation C1861861 115210 16 Feb 2016 Disease Familial restrictive cardiomyopathy 2 NCBI curation C1865071 609578 16 Feb 2016 Disease Familial restrictive cardiomyopathy 3 NCBI curation C2676271 612422 16 Feb 2016 Disease Familial scaphocephaly syndrome MONDO C3267076 MONDO:0015704 17 Apr 2020 Disease Familial streblodactyly 16 Feb 2016 Disease Familial sudden death NCBI curation 16 Feb 2016 Disease Familial symmetric lipomatosis 16 Feb 2016 Disease Familial syndrome associated with hypertrophic cardiomyopathy MONDO CN201161 MONDO:0016329 17 Apr 2020 Disease Familial syringomyelia MONDO CN204832 MONDO:0018257 17 Apr 2020 Disease Familial temporal lobe epilepsy NCBI curation C1842564 26 Dec 2019 Disease Familial temporal lobe epilepsy 1 NCBI curation C4551957 600512 26 Dec 2019 Disease Familial temporal lobe epilepsy 2 NCBI curation C4759869 608096 26 Dec 2019 Disease Familial temporal lobe epilepsy syndrome MONDO MONDO:0100032 17 Apr 2020 Disease Familial thoracic aortic aneurysm CN240756 01 Mar 2017 Disease Familial thoracic aortic aneurysm and aortic dissection Orphanet C4707243 ORPHA91387 27 Apr 2020 Disease Familial thoracic aortic aneurysm and aortic dissection MONDO C4707243 MONDO:0019625 27 Apr 2020 Disease Familial thrombocytopenia 15 Jun 2018 Finding Familial thrombomodulin anomalies MONDO C2931365 MONDO:0018047 22 Apr 2020 Disease Familial thyroglossal duct cyst MONDO C3495590 MONDO:0008565 188455 17 Apr 2020 Disease Familial thyroid dyshormonogenesis C4273748 27 Aug 2019 Disease Familial Treacher Collins syndrome 16 Feb 2016 Disease Familial triple-negative breast cancer CN233346 16 Feb 2016 Finding Familial tumoral calcinosis MONDO C0263628 MONDO:0018891 17 Apr 2020 Disease Familial type 3 hyperlipoproteinemia NCBI curation C0020479 617347 16 Feb 2016 Disease Familial type 5 hyperlipoproteinemia C0020481 144650 16 Feb 2016 Disease Familial veinous malformations 16 Feb 2016 Disease Familial ventricular tachycardia C0340485 192605 16 Feb 2016 Disease Familial visceral amyloidosis, Ostertag type NCBI curation C0268389 105200 16 Feb 2016 Disease Familial X-linked hypophosphatemic vitamin D refractory rickets C0733682 307800 16 Feb 2016 Disease Familial young-adult-onset arteriosclerotic 16 Feb 2016 Disease Family history NCBI curation C0241889 06 Jul 2017 Finding family history of 22q11 deletion 05 Sep 2019 Finding Family history of a chromosome abnormality 22 Jun 2020 Finding family history of autism spectrum disorder 05 Sep 2019 Finding Family history of autosomal translocation 26 Jul 2019 Finding Family history of cancer 16 Jun 2020 Finding Family history of cardiomyopathy 10 Oct 2019 Disease family history of cleft palate C2316253 18 Jan 2019 Finding family history of condition 05 Sep 2019 Finding family history of conditions 05 Sep 2019 Finding family history of congenital cataract C2315927 18 Jan 2019 Finding family history of congenital malformations 05 Sep 2019 Finding family history of consanguinity 05 Sep 2019 Finding family history of epilepsy diseases of the nervous system 05 Sep 2019 Finding family history of genetic disorder 05 Sep 2019 Finding Family History of hearing loss C2584452 18 Jan 2019 Finding Family history of hereditary disease 26 Jul 2019 Finding Family history of hereditary disorder 22 Jun 2020 Finding Family history of intellectual disability C4706515 24 Nov 2017 Finding family history of ischemic heart disease 05 Sep 2019 Finding family history of ischemic heart disease diseases of the circulatory system 05 Sep 2019 Finding Family history of sudden cardiac death 10 Oct 2019 Disease Family Testing 13 Oct 2017 Finding Fanconi anemia OMIM phenotypic series C0015625 PS227650 16 Feb 2016 Disease Fanconi anemia Orphanet C0015625 ORPHA84 16 Feb 2016 Disease Fanconi anemia, complementation group A NCBI curation C3469521 227650 16 Feb 2016 Disease Fanconi anemia, complementation group B NCBI curation C1845292 300514 16 Feb 2016 Disease Fanconi anemia, complementation group C NCBI curation C3468041 227645 16 Feb 2016 Disease Fanconi anemia, complementation group D1 NCBI curation C1838457 605724 16 Feb 2016 Disease Fanconi anemia, complementation group D2 NCBI curation C3160738 227646 16 Feb 2016 Disease Fanconi anemia, complementation group E NCBI curation C3160739 600901 16 Feb 2016 Disease Fanconi anemia, complementation group F NCBI curation C3469526 603467 16 Feb 2016 Disease Fanconi anemia, complementation group G NCBI curation C3469527 614082 16 Feb 2016 Disease Fanconi anemia, complementation group I NCBI curation C1836861 609053 16 Feb 2016 Disease Fanconi anemia, complementation group J NCBI curation C1836860 609054 16 Feb 2016 Disease Fanconi anemia, complementation group L NCBI curation C3469528 614083 16 Feb 2016 Disease Fanconi anemia, complementation group M NCBI curation C3469529 614087 16 Feb 2016 Disease Fanconi anemia, complementation group N NCBI curation C1835817 610832 16 Feb 2016 Disease Fanconi anemia, complementation group O NCBI curation C3150653 613390 16 Feb 2016 Disease Fanconi anemia, complementation group P NCBI curation C3469542 613951 16 Feb 2016 Disease Fanconi anemia, complementation group Q NCBI curation C3808988 615272 16 Feb 2016 Disease Fanconi anemia, complementation group R NCBI curation C4284093 617244 20 Jun 2017 Disease FANCONI ANEMIA, COMPLEMENTATION GROUP S OMIM C4554406 617883 617883 09 Mar 2018 Disease Fanconi anemia, complementation group T NCBI curation C4084840 616435 20 Jun 2017 Disease Fanconi anemia, complementation group U NCBI curation C4310651 617247 20 Jun 2017 Disease Fanconi anemia, complementation group V NCBI curation C4310652 617243 20 Jun 2017 Disease FANCONI ANEMIA, COMPLEMENTATION GROUP W OMIM C4521564 617784 617784 30 Nov 2017 Disease Fanconi anemia, Estren-Dameshek variant NCBI curation C1856796 16 Feb 2016 Disease Fanconi Anemia, X-Linked CN239166 02 Dec 2016 Disease Fanconi ichthyosis dysmorphism 16 Feb 2016 Disease Fanconi renotubular syndrome 1 NCBI curation C4551503 134600 16 Feb 2016 Disease Fanconi renotubular syndrome 2 NCBI curation C3150652 613388 16 Feb 2016 Disease Fanconi renotubular syndrome 3 NCBI curation C3810100 615605 16 Feb 2016 Disease Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young NCBI curation C4014962 616026 16 Feb 2016 Disease FANCONI RENOTUBULAR SYNDROME 5 OMIM CN282533 618913 618913 17 Jun 2020 Disease Fanconi syndrome NCBI curation C0015624 16 Feb 2016 Disease Fanconi-Bickel syndrome NCBI curation C3495427 227810 16 Feb 2016 Disease Fanconi-like syndrome C0151638 227850 16 Feb 2016 Disease Far eastern spotted fever MONDO C3532354 MONDO:0000231 04 Jun 2020 Infectious disease Far-East scarlet-like fever MONDO C0277513 MONDO:0041536 04 Jun 2020 Infectious disease Fara Chlupackova syndrome 16 Feb 2016 Disease Farber disease Orphanet C0268255 ORPHA333 228000 08 Apr 2018 Disease Farber like symptoms 13 Feb 2020 Finding Farmer's lung 16 Feb 2016 Disease Farmer's lung disease MONDO C0015634 MONDO:0001971 17 Apr 2020 Disease Fasciculations Human Phenotype Ontology C0015644 HP:0002380 16 Feb 2016 Finding Fasciitis Human Phenotype Ontology C0015645 HP:0100537 16 Feb 2016 Finding Fasciitis with eosinophilia syndrome C0264005 226350 16 Feb 2016 Disease Fascioliasis CN281944 16 Feb 2016 Infectious disease Fascioloidiasis MONDO C0015655 MONDO:0005759 04 Jun 2020 Infectious disease Fasciolopsiasis MONDO C0015656 MONDO:0004672 04 Jun 2020 Infectious disease Fast acetylation NCBI curation C2673468 16 Feb 2016 Finding Fast acetylator phenotype NCBI curation 16 Feb 2016 Disease Fast-growing nails Human Phenotype Ontology C4280757 HP:0030806 02 Apr 2017 Finding Fasting hyperinsulinemia Human Phenotype Ontology C1864954 HP:0008283 16 Feb 2016 Finding Fasting hypoglycemia Human Phenotype Ontology C0271708 HP:0003162 16 Feb 2016 Finding Fasting insulin level quantitative trait locus 1 NCBI curation C2676369 606035 16 Feb 2016 Disease Fasting plasma glucose level quantitative trait locus 1 NCBI curation C2677501 612108 16 Feb 2016 Disease Fasting plasma glucose level quantitative trait locus 2 NCBI curation C2750735 613219 16 Feb 2016 Disease Fasting plasma glucose level quantitative trait locus 3 NCBI curation C2750485 613233 16 Feb 2016 Disease Fasting plasma glucose level quantitative trait locus 4 NCBI curation C3150713 613462 16 Feb 2016 Disease Fasting plasma glucose level quantitative trait locus 5 NCBI curation C3150714 613463 16 Feb 2016 Disease Fasting plasma glucose level quantitative trait locus 6 NCBI curation C3150710 613460 16 Feb 2016 Disease FASTKD2-related infantile mitochondrial encephalomyopathy MONDO C4755278 MONDO:0015632 17 Apr 2020 Disease Fat malabsorption Human Phenotype Ontology C0554103 HP:0002630 16 Feb 2016 Finding Fat necrosis of breast MONDO C0156321 MONDO:0001101 17 Apr 2020 Disease Fatal familial insomnia C0206042 600072 16 Feb 2016 Disease Fatal Infantile Cardioencephalomyopathy CN239235 02 Dec 2016 Disease Fatal infantile encephalocardiomyopathy MONDO C4273730 MONDO:0015487 17 Apr 2020 Disease Fatal infantile encephalomyopathy 16 Feb 2016 Disease Fatal infantile hypertonic myofibrillar myopathy NCBI curation C3151236 613869 27 Dec 2016 Disease Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency CN242288 28 Apr 2017 Finding Fatal infantile mitochondrial cardiomyopathy C3532243 16 Feb 2016 Disease Fatal liver failure in infancy Human Phenotype Ontology C4025017 HP:0006583 16 Feb 2016 Finding Fatal post-viral neurodegenerative disorder MONDO C4751597 MONDO:0018316 17 Apr 2020 Disease Father with t(4 CN237117 08 Jul 2016 Finding Fatigable weakness Human Phenotype Ontology C0947912 HP:0003473 16 Feb 2016 Finding Fatigable weakness of bulbar muscles Human Phenotype Ontology C4022591 HP:0030192 16 Feb 2016 Finding Fatigable weakness of chewing muscles Human Phenotype Ontology C4022590 HP:0030193 16 Feb 2016 Finding Fatigable weakness of distal limb muscles Human Phenotype Ontology C4022585 HP:0030198 16 Feb 2016 Finding Fatigable weakness of neck muscles Human Phenotype Ontology C4022584 HP:0030199 16 Feb 2016 Finding Fatigable weakness of respiratory muscles Human Phenotype Ontology C4022587 HP:0030196 16 Feb 2016 Finding Fatigable weakness of skeletal muscles Human Phenotype Ontology C4022586 HP:0030197 16 Feb 2016 Finding Fatigable weakness of speech muscles Human Phenotype Ontology C4022589 HP:0030194 16 Feb 2016 Finding Fatigable weakness of swallowing muscles Human Phenotype Ontology C4022588 HP:0030195 16 Feb 2016 Finding Fatiguable weakness of proximal limb muscles Human Phenotype Ontology C4022583 HP:0030200 16 Feb 2016 Finding Fatigue Human Phenotype Ontology C0015672 HP:0012378 16 Feb 2016 Finding Fatigues easily 23 Jan 2020 Finding Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy MONDO CN226905 MONDO:0016336 17 Apr 2020 Disease Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy MONDO CN226902 MONDO:0016328 17 Apr 2020 Disease FATTY ACID-BINDING PROTEIN, INTESTINAL, POLYMORPHISM OF 16 Feb 2016 Disease Fatty casts Human Phenotype Ontology C3714563 HP:0031203 04 Apr 2018 Finding Fatty liver disease MONDO MONDO:0004790 17 Apr 2020 Disease Fatty liver disease, nonalcoholic 1 NCBI curation C2750440 613282 16 Feb 2016 Disease Fatty liver disease, nonalcoholic 2 NCBI curation C3150651 613387 16 Feb 2016 Disease Fatty replacement of skeletal muscle Human Phenotype Ontology C4021082 HP:0012548 16 Feb 2016 Finding Fatty replacement of ventricular myocardial tissue Human Phenotype Ontology C4531204 HP:0031317 04 Apr 2018 Finding Fatty streak Human Phenotype Ontology C0333484 HP:0031011 04 Apr 2018 Finding Faucial diphtheria MONDO C0012556 MONDO:0020860 04 Jun 2020 Infectious disease Faulk Epstein Jones syndrome 16 Feb 2016 Disease Fava bean-induced hemolytic anemia Human Phenotype Ontology C4021648 HP:0004814 16 Feb 2016 Finding Favism MONDO C0015702 MONDO:0001761 17 Apr 2020 Disease Favorable response of weakness to acetylcholine esterase inhibitors Human Phenotype Ontology C4022581 HP:0030202 16 Feb 2016 Finding Favre hyaloideoretinal degeneration NCBI curation 16 Feb 2016 Disease Faye-Petersen-Ward-Carey syndrome MONDO C2931417 MONDO:0023133 22 Apr 2020 Disease FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome MONDO C4751506 MONDO:0018443 17 Apr 2020 Disease FBN1-Related Disorders 29 Aug 2019 Disease FBXW11-related neurodevelopmental, brain, eye, and digit anomalies 21 May 2020 Disease Fealty syndrome 16 Feb 2016 Disease Features of Beckwith Wiedemann syndrome 13 Sep 2017 Finding Febrile infection-related epilepsy syndrome MONDO C4049262 MONDO:0015584 17 Apr 2020 Disease Febrile seizures Human Phenotype Ontology C0009952 HP:0002373 16 Feb 2016 Finding Febrile seizures plus, genetic epilepsy with febrile seizures plus MONDO MONDO:0100027 17 Apr 2020 Disease Febrile seizures, familial, 1 NCBI curation C1852577 121210 16 Feb 2016 Disease Febrile seizures, familial, 10 NCBI curation C2675251 612637 24 Aug 2016 Disease Febrile seizures, familial, 11 NCBI curation C3280734 614418 16 Feb 2016 Disease Febrile seizures, familial, 2 NCBI curation C1865342 602477 16 Feb 2016 Disease Febrile seizures, familial, 3a NCBI curation C2751756 16 Feb 2016 Disease Febrile seizures, familial, 3b NCBI curation C3151229 16 Feb 2016 Disease Febrile seizures, familial, 4 NCBI curation C1858493 604352 16 Feb 2016 Disease Febrile seizures, familial, 5 NCBI curation C1836507 609255 16 Feb 2016 Disease Febrile seizures, familial, 6 NCBI curation C1836518 609253 16 Feb 2016 Disease Febrile seizures, familial, 7 NCBI curation C1969087 611515 16 Feb 2016 Disease Febrile seizures, familial, 9 NCBI curation C1968846 611634 16 Feb 2016 Disease Febrile Ulceronecrotic Mucha-Habermann disease C1274297 16 Feb 2016 Disease Feculent vomiting Human Phenotype Ontology C0241706 HP:0025089 02 Apr 2017 Finding Fecundity gene, booroola, of sheep, homolog of NCBI curation C1851318 134720 16 Feb 2016 Disease Feeding difficulties Human Phenotype Ontology C0232466 HP:0011968 16 Feb 2016 Finding Feeding difficulties in infancy Human Phenotype Ontology C2674608 HP:0008872 16 Feb 2016 Finding Feeding difficulties, infancy 23 Jan 2020 Finding Feeding failure CN235256 19 Feb 2016 Finding Feeding immaturity 23 Jan 2020 Finding feeding intolerance C1820738 18 Aug 2017 Finding feeding issues 26 Feb 2020 Finding Feeding tube CN235279 19 Feb 2016 Finding Feigenbaum Bergeron syndrome 16 Feb 2016 Disease Feingold syndrome OMIM phenotypic series C0796068 PS164280 16 Feb 2016 Disease Feingold syndrome 1 GeneReviews C4551774 NBK7050 164280 16 Feb 2016 Disease Feingold syndrome 2 NCBI curation C3280489 614326 16 Feb 2016 Disease Feingold Trainer syndrome C2931126 16 Feb 2016 Disease Feline acquired immunodeficiency syndrome MONDO C0079335 MONDO:0025485 04 Jun 2020 Infectious disease Feline infectious peritonitis MONDO C0085306 MONDO:0025491 17 Apr 2020 Disease Feline panleukopenia MONDO C0015765 MONDO:0025412 04 Jun 2020 Infectious disease Felty's syndrome C0015773 134750 16 Feb 2016 Disease Female anorgasmia Human Phenotype Ontology C4022677 HP:0030015 16 Feb 2016 Finding Female breast axillary tail cancer MONDO C0153554 MONDO:0002069 17 Apr 2020 Disease Female breast carcinoma MONDO C0007104 MONDO:0004379 17 Apr 2020 Disease Female breast central part cancer MONDO C0153549 MONDO:0001805 17 Apr 2020 Disease Female breast lower-inner quadrant cancer MONDO C0153551 MONDO:0002068 17 Apr 2020 Disease Female breast lower-outer quadrant cancer MONDO C0153553 MONDO:0001850 17 Apr 2020 Disease Female breast nipple and areola cancer MONDO C0024621 MONDO:0001401 17 Apr 2020 Disease Female breast upper-inner quadrant cancer MONDO C0153550 MONDO:0002067 17 Apr 2020 Disease Female breast upper-outer quadrant cancer MONDO C0153552 MONDO:0004878 17 Apr 2020 Disease Female external genitalia in individual with 46,XY karyotype Human Phenotype Ontology C1848178 HP:0008730 16 Feb 2016 Finding Female fetal virilization Human Phenotype Ontology C4477102 HP:0031170 04 Apr 2018 Finding Female genital tuberculosis MONDO MONDO:0006758 17 Apr 2020 Disease Female hypogonadism Human Phenotype Ontology C0271578 HP:0000134 16 Feb 2016 Finding Female infertility Human Phenotype Ontology C0021361 HP:0008222 16 Feb 2016 Finding Female infertility due to a congenital hypogonadotropic hypogonadism MONDO CN227344 MONDO:0018398 17 Apr 2020 Disease Female infertility due to an anomaly of ovarian function MONDO CN227347 MONDO:0018401 17 Apr 2020 Disease Female infertility due to an anomaly of ovarian function of genetic origin MONDO CN227356 MONDO:0018413 17 Apr 2020 Disease Female infertility due to an implantation defect MONDO CN227348 MONDO:0018403 17 Apr 2020 Disease Female infertility due to an implantation defect of genetic origin MONDO CN227357 MONDO:0018414 17 Apr 2020 Disease Female infertility due to fertilization defect MONDO CN227372 MONDO:0018444 17 Apr 2020 Disease Female infertility due to gonadal dysgenesis MONDO CN229164 MONDO:0018402 17 Apr 2020 Disease Female infertility due to hypothalamic-pituitary-gonadal axis disorder MONDO CN227343 MONDO:0018397 17 Apr 2020 Disease Female infertility due to oocyte meiotic arrest MONDO MONDO:0044626 17 Apr 2020 Disease Female infertility of uterine origin MONDO C0156416 MONDO:0001753 17 Apr 2020 Disease Female pseudohermaphrodism 16 Feb 2016 Disease Female pseudohermaphrodism Genuardi type 16 Feb 2016 Disease Female pseudohermaphroditism Human Phenotype Ontology C0238394 HP:0010458 16 Feb 2016 Finding Female reproductive organ cancer MONDO MONDO:0001416 17 Apr 2020 Disease Female reproductive system disease MONDO MONDO:0002263 17 Apr 2020 Disease Female reproductive system neoplasm MONDO C0017416 MONDO:0021148 17 Apr 2020 Disease Female sexual dysfunction Human Phenotype Ontology C1112442 HP:0030014 16 Feb 2016 Finding Female stress incontinence MONDO C0038437 MONDO:0004160 17 Apr 2020 Disease Female urethral cancer MONDO C1517154 MONDO:0004203 17 Apr 2020 Disease Femoral agenesis/hypoplasia, bilateral MONDO MONDO:0017485 17 Apr 2020 Disease Femoral agenesis/hypoplasia, unilateral MONDO MONDO:0017484 17 Apr 2020 Disease Femoral aplasia Human Phenotype Ontology C0265629 HP:0012744 16 Feb 2016 Finding Femoral arterial calcification Human Phenotype Ontology C4531215 HP:0031303 04 Apr 2018 Finding Femoral bowing Human Phenotype Ontology C1859461 HP:0002980 16 Feb 2016 Finding Femoral bowing present at birth, straightening with time Human Phenotype Ontology C1833754 HP:0005005 16 Feb 2016 Finding Femoral cancer MONDO MONDO:0003505 17 Apr 2020 Disease Femoral hernia Human Phenotype Ontology C0019288 HP:0100541 16 Feb 2016 Finding Femoral hypoplasia - unusual facies syndrome C0265263 134780 16 Feb 2016 Disease Femoral neck fracture MONDO MONDO:0043589 17 Apr 2020 Disease Femoral neuropathy MONDO C0751931 MONDO:0006759 17 Apr 2020 Disease Femoral spur Human Phenotype Ontology C4477017 HP:0031171 04 Apr 2018 Finding Femoral vein thrombophlebitis MONDO C0265066 MONDO:0001481 17 Apr 2020 Disease Femoroacetabular Impingement Human Phenotype Ontology C2936290 HP:0030883 02 Apr 2017 Finding Femur-fibula-ulna complex MONDO C1856790 MONDO:0009221 228200 17 Apr 2020 Disease Fentanyl response NCBI curation CN221248 16 Feb 2016 Pharmacological response fentanyl response - Dosage PharmGKB CN236531 1444704833 18 May 2016 Pharmacological response fentanyl response - Dosage, Efficacy PharmGKB 1444704833PA449599 06 Jul 2018 Pharmacological response fentanyl response - Dosage, Efficacy, Metabolism/PK PharmGKB 982034197PA449599 06 Jul 2018 Pharmacological response fentanyl response - Metabolism/PK PharmGKB CN236592 982034197 18 May 2016 Pharmacological response Fenton Wilkinson Toselano syndrome 16 Feb 2016 Disease Ferlini Ragno Calzolari syndrome 16 Feb 2016 Disease Fernhoff Blackston Oakley syndrome 16 Feb 2016 Disease Ferro-cerebro-cutaneous syndrome MONDO C4751570 MONDO:0018346 17 Apr 2020 Disease Fesoterodine Response CN282554 17 Jun 2020 Pharmacological response Fetal abdominal calcifications 30 Mar 2018 Finding Fetal akinesia deformation sequence OMIM phenotypic series CN263240 PS208150 05 Feb 2020 Disease FETAL AKINESIA DEFORMATION SEQUENCE 2 OMIM C4760576 618388 618388 13 Apr 2019 Disease FETAL AKINESIA DEFORMATION SEQUENCE 3 OMIM C4760599 618389 618389 13 Apr 2019 Disease FETAL AKINESIA DEFORMATION SEQUENCE 4 OMIM C4760578 618393 618393 18 Apr 2019 Disease Fetal akinesia sequence Human Phenotype Ontology C3151520 HP:0001989 16 Feb 2016 Finding Fetal akinesia syndrome, X-linked MONDO C1848171 MONDO:0010242 300073 22 Apr 2020 Disease fetal alcohol spectrum disorder C2985290 18 Jan 2019 Finding Fetal Alcohol Spectrum Disorders CN036067 16 Feb 2016 Disease fetal alcohol syndrome C0015923 18 Jan 2019 Finding Fetal aminopterin syndrome 16 Feb 2016 Disease Fetal and neonatal alloimmune thrombocytopenia NCBI curation CN689512 16 Feb 2016 Disease Fetal Anencephaly vs. amniotic bands vs. encephalocele 24 Nov 2017 Finding Fetal anticonvulsant syndrome MONDO C1739111 MONDO:0018262 17 Apr 2020 Disease Fetal antihypertensive drugs syndrome 16 Feb 2016 Disease Fetal ascites Human Phenotype Ontology C1285291 HP:0001791 16 Feb 2016 Finding Fetal brain disruption sequence 16 Feb 2016 Disease Fetal carbamazepine syndrome MONDO C0432370 MONDO:0018263 17 Apr 2020 Disease Fetal choroid plexus cysts Human Phenotype Ontology C3532166 HP:0011426 16 Feb 2016 Finding Fetal cocaine syndrome 16 Feb 2016 Disease Fetal cystic hygroma Human Phenotype Ontology C0948242 HP:0010878 257350 04 Apr 2018 Disease Fetal cytomegalovirus syndrome MONDO C0349499 MONDO:0017409 04 Jun 2020 Infectious disease Fetal diethylstilbestrol syndrome 16 Feb 2016 Disease Fetal distress Human Phenotype Ontology C0015930 HP:0025116 02 Apr 2017 Finding fetal drug exposure 05 Sep 2019 Finding Fetal enterovirus syndrome CN281945 16 Feb 2016 Infectious disease fetal facies 11 May 2019 Finding Fetal fifth finger clinodactyly Human Phenotype Ontology C4023362 HP:0011431 16 Feb 2016 Finding Fetal growth restriction MONDO MONDO:0005030 17 Apr 2020 Disease Fetal hemoglobin quantitative trait locus 1 NCBI curation C1841621 141749 16 Feb 2016 Disease Fetal hemoglobin quantitative trait locus 2 NCBI curation C1840598 142470 16 Feb 2016 Disease Fetal hemoglobin quantitative trait locus 3 NCBI curation C1844568 305435 16 Feb 2016 Disease Fetal hemoglobin quantitative trait locus 4 NCBI curation C1969842 606789 16 Feb 2016 Disease Fetal hemoglobin quantitative trait locus 5 NCBI curation C1969758 142335 16 Feb 2016 Disease Fetal hemoglobin quantitative trait locus 6 NCBI curation C3150805 613566 16 Feb 2016 Disease Fetal hemoglobin, a-gamma type, reduction in NCBI curation C4016197 16 Feb 2016 Disease Fetal hydantoin syndrome C0265372 16 Feb 2016 Disease fetal hydrocephalus C1397626 23 Nov 2016 Finding Fetal indomethacin syndrome 16 Feb 2016 Disease Fetal iodine deficiency disorder NCBI curation C0342200 228355 16 Feb 2016 Disease Fetal iodine syndrome 16 Feb 2016 Disease Fetal left ventricular aneurysm 16 Feb 2016 Disease Fetal lower urinary tract obstruction MONDO C4305545 MONDO:0018559 17 Apr 2020 Disease Fetal lung interstitial tumor MONDO CN202863 MONDO:0017289 17 Apr 2020 Disease Fetal macrosomia 16 Feb 2016 Disease Fetal megacystis Human Phenotype Ontology C2931117 HP:0010956 16 Feb 2016 Finding Fetal methimazole syndrome 16 Feb 2016 Disease Fetal methyl mercury syndrome 16 Feb 2016 Disease Fetal methylmercury syndrome MONDO MONDO:0016013 17 Apr 2020 Disease Fetal minoxidil syndrome C0432373 16 Feb 2016 Disease Fetal nicotine spectrum disorder MONDO MONDO:0000815 17 Apr 2020 Disease Fetal parainfluenza virus type 3 syndrome CN281946 16 Feb 2016 Infectious disease Fetal parvovirus syndrome C4275262 16 Feb 2016 Infectious disease Fetal phenothiazine syndrome 16 Feb 2016 Disease Fetal polyuria Human Phenotype Ontology C1865279 HP:0001563 16 Feb 2016 Finding Fetal pyelectasis Human Phenotype Ontology C2317073 HP:0010945 16 Feb 2016 Finding Fetal retinoid syndrome 16 Feb 2016 Disease Fetal tachycardia C0410918 23 Jan 2020 Finding Fetal trimethadione syndrome C3887495 231080 16 Feb 2016 Disease Fetal ultrasound soft marker Human Phenotype Ontology C4023366 HP:0011425 16 Feb 2016 Finding Fetal valproate syndrome 16 Feb 2016 Disease Fetal warfarin syndrome NCBI curation 16 Feb 2016 Disease Fetishism MONDO C0015957 MONDO:0001504 17 Apr 2020 Disease Fetus with multiple malformations namely bilateral lower limb aplasia, sacrococcygeal agenesis, bilateral lung hypoplasia, hypoplastic left heart, fetal hydrops and bilateral hydroureteronephrosis 26 Jul 2019 Finding Fever Human Phenotype Ontology C0015967 HP:0001945 16 Feb 2016 Finding Fever, familial lifelong persistent NCBI curation C1856788 228400 16 Feb 2016 Disease Fever-associated acute infantile liver failure syndrome Orphanet CN924913 ORPHA464724 08 Apr 2018 Disease Few cafe-au-lait spots Human Phenotype Ontology C4024881 HP:0007429 16 Feb 2016 Finding FG syndrome NCBI curation CN263367 16 Mar 2020 Disease FG syndrome 1 NCBI curation C0220769 305450 16 Mar 2020 Disease FG syndrome 2 C1845902 300321 16 Feb 2016 Disease FG syndrome 3 C1845567 300406 16 Feb 2016 Disease FG syndrome 4 C1845546 300422 16 Feb 2016 Disease FG syndrome 5 NCBI curation C1845119 300581 16 Feb 2016 Disease FGA-Related Disorders 23 May 2019 Disease FGFR2 related craniosynostosis CN231480 16 Feb 2016 Disease FGFR3-related chondrodysplasia MONDO CN229200 MONDO:0019685 17 Apr 2020 Disease FH LEIDEN 1 29 Dec 2017 Disease FH-Related Disorders 23 May 2019 Disease Fibrillary astrocytoma MONDO C0334582 MONDO:0016688 17 Apr 2020 Disease fibrillations and no response 20 Jun 2019 Finding FIBRINOGEN AARHUS 1 16 Feb 2016 Named protein variant FIBRINOGEN ASAHI 16 Feb 2016 Named protein variant FIBRINOGEN BALTIMORE 1 16 Feb 2016 Named protein variant FIBRINOGEN BALTIMORE 2 16 Feb 2016 Named protein variant FIBRINOGEN BALTIMORE 3 16 Feb 2016 Named protein variant FIBRINOGEN CANTERBURY 16 Feb 2016 Named protein variant FIBRINOGEN CARACAS 2 16 Feb 2016 Named protein variant FIBRINOGEN CHRISTCHURCH 2 16 Feb 2016 Named protein variant FIBRINOGEN DETROIT 1 16 Feb 2016 Named protein variant FIBRINOGEN DUSART 16 Feb 2016 Named protein variant FIBRINOGEN GIESSEN 4 16 Feb 2016 Named protein variant FIBRINOGEN HAIFA 1 16 Feb 2016 Named protein variant FIBRINOGEN HILLSBOROUGH 16 Feb 2016 Named protein variant FIBRINOGEN ISE 16 Feb 2016 Named protein variant FIBRINOGEN KEOKUK 16 Feb 2016 Named protein variant FIBRINOGEN KYOTO 1 16 Feb 2016 Named protein variant FIBRINOGEN KYOTO 2 16 Feb 2016 Named protein variant FIBRINOGEN KYOTO 3 16 Feb 2016 Named protein variant FIBRINOGEN LILLE 1 16 Feb 2016 Named protein variant FIBRINOGEN LIMA 16 Feb 2016 Named protein variant FIBRINOGEN LONGMONT 16 Feb 2016 Named protein variant FIBRINOGEN MARBURG 16 Feb 2016 Named protein variant FIBRINOGEN MATSUMOTO 1 16 Feb 2016 Named protein variant FIBRINOGEN MILANO 1 16 Feb 2016 Named protein variant Fibrinogen Milano XII, digenic NCBI curation C4016097 05 Jul 2016 Disease FIBRINOGEN MUNICH 1 16 Feb 2016 Named protein variant FIBRINOGEN NAGOYA 1 16 Feb 2016 Named protein variant FIBRINOGEN NAPLES 16 Feb 2016 Named protein variant FIBRINOGEN NEW YORK 1 16 Feb 2016 Named protein variant FIBRINOGEN NIEUWEGEIN 16 Feb 2016 Named protein variant FIBRINOGEN NIJMEGEN 16 Feb 2016 Named protein variant FIBRINOGEN OSAKA 5 16 Feb 2016 Named protein variant FIBRINOGEN OSLO III 16 Feb 2016 Named protein variant FIBRINOGEN PARIS 1 16 Feb 2016 Named protein variant FIBRINOGEN PONTOISE 2 16 Feb 2016 Named protein variant FIBRINOGEN ROUEN 1 16 Feb 2016 Named protein variant FIBRINOGEN TOKYO 2 16 Feb 2016 Named protein variant FIBRINOGEN VLISSINGEN 1 16 Feb 2016 Named protein variant FIBRINOGEN, BETA-148 POLYMORPHISM 16 Feb 2016 Disease FIBRINOGEN-BETA POLYMORPHISM 16 Feb 2016 Disease Fibrinolytic defect NCBI curation C1851184 134900 16 Feb 2016 Disease Fibroadenoma of the breast Human Phenotype Ontology C0178421 HP:0010619 16 Feb 2016 Finding Fibroblastic liposarcoma MONDO C1266130 MONDO:0003590 17 Apr 2020 Disease Fibroblastic neoplasm MONDO MONDO:0006209 17 Apr 2020 Disease Fibroblastic rheumatism MONDO C1302753 MONDO:0018783 17 Apr 2020 Disease Fibrocartilaginous embolism C2931666 16 Feb 2016 Disease Fibrochondrogenesis OMIM phenotypic series C0265282 PS228520 16 Nov 2019 Disease Fibrochondrogenesis 1 OMIM C3278138 228520 228520 16 Nov 2019 Disease Fibrochondrogenesis 2 NCBI curation C3281128 614524 16 Feb 2016 Disease Fibrocystic lung disease Human Phenotype Ontology C1397290 HP:0006552 16 Feb 2016 Finding Fibroepithelial neoplasm MONDO C0206649 MONDO:0021045 17 Apr 2020 Disease Fibroepithelial polyp MONDO MONDO:0060765 17 Apr 2020 Disease Fibroepithelial polyp of the anus MONDO MONDO:0006549 17 Apr 2020 Disease Fibroepithelial polyp of urethra MONDO C1336884 MONDO:0006550 17 Apr 2020 Disease Fibrofolliculoma Human Phenotype Ontology C0346011 HP:0030436 16 Feb 2016 Finding Fibrogenesis imperfecta ossium MONDO MONDO:0000849 17 Apr 2020 Disease Fibrolamellar hepatocellular carcinoma MONDO C0334287 MONDO:0006210 17 Apr 2020 Disease Fibrolipomatosis 16 Feb 2016 Disease Fibroma Human Phenotype Ontology C0016045 HP:0010614 16 Feb 2016 Finding Fibroma of ovary NCBI curation C0149951 166970 16 Feb 2016 Disease Fibroma of prostate MONDO C0268885 MONDO:0021532 17 Apr 2020 Disease Fibromatosis MONDO C0016048 MONDO:0005031 17 Apr 2020 Disease Fibromatosis multiple non ossifying C0796000 16 Feb 2016 Disease FIBROMATOSIS, GINGIVAL, 5 OMIM C4539942 617626 617626 17 Aug 2017 Disease Fibromatosis, gingival, with hypertrichosis and mental retardation NCBI curation C1854306 605400 16 Feb 2016 Disease fibromyalgia 05 Sep 2019 Finding Fibromyxoid tumor MONDO C0205766 MONDO:0037745 17 Apr 2020 Disease Fibroosseous pseudotumor of the digits MONDO C1333612 MONDO:0004482 17 Apr 2020 Disease Fibrosarcoma (disease) MONDO C0016057 MONDO:0005164 17 Apr 2020 Disease Fibrosarcomatous osteosarcoma MONDO C0279602 MONDO:0004301 17 Apr 2020 Disease Fibrosing alveolitis 16 Feb 2016 Disease Fibrosing mediastinitis NCBI curation 16 Feb 2016 Disease Fibrosis C0016059 30 Dec 2016 Disease Fibrosis of bile duct MONDO C0520571 MONDO:0041959 17 Apr 2020 Disease Fibrosis of extraocular muscles, congenital, 1 NCBI curation C1851102 135700 16 Feb 2016 Disease Fibrosis of extraocular muscles, congenital, 2 NCBI curation C1865915 602078 16 Feb 2016 Disease Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement NCBI curation C2748801 600638 16 Feb 2016 Disease Fibrosis of extraocular muscles, congenital, 3b NCBI curation C2751105 16 Feb 2016 Disease Fibrosis of extraocular muscles, congenital, 3c NCBI curation C2750404 609384 16 Feb 2016 Disease Fibrosis of extraocular muscles, congenital, 5 NCBI curation C4015552 616219 16 Feb 2016 Disease Fibrosis of extraocular muscles, congenital, with synergistic divergence NCBI curation C1865040 609612 16 Feb 2016 Disease FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS OMIM C4748939 618278 618278 16 Jan 2019 Disease Fibrotic muscularis propria Human Phenotype Ontology C4476866 HP:0030937 02 Apr 2017 Finding Fibrous cardiac diverticulum Human Phenotype Ontology C4020964 HP:0100572 16 Feb 2016 Finding Fibrous dysplasia C0259779 16 Feb 2016 Disease Fibrous dysplasia of jaw C0008029 118400 16 Feb 2016 Disease Fibrous dysplasia of the bones Human Phenotype Ontology C0016063 HP:0010734 16 Feb 2016 Finding Fibrous hamartoma Human Phenotype Ontology C0265979 HP:0100882 16 Feb 2016 Finding Fibrous meningioma MONDO C0334606 MONDO:0004144 17 Apr 2020 Disease Fibrous Sheath Dysplasia CN196902 16 Feb 2016 Disease Fibrous syngnathia Human Phenotype Ontology C4021392 HP:0009754 16 Feb 2016 Finding Fibrous synovial sarcoma MONDO C1333616 MONDO:0003465 17 Apr 2020 Disease Fibrous tissue neoplasm Human Phenotype Ontology C0206643 HP:0012316 16 Feb 2016 Finding Fibula aplasia complex brachydactyly 16 Feb 2016 Disease Fibula, recurrent dislocation of head of NCBI curation C1851099 135800 16 Feb 2016 Disease Fibular aplasia Human Phenotype Ontology C1836186 HP:0002990 16 Feb 2016 Disease Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome NCBI curation C1855499 246570 16 Feb 2016 Disease Fibular aplasia-ectrodactyly syndrome MONDO C1862100 MONDO:0007225 113310 17 Apr 2020 Disease Fibular bowing Human Phenotype Ontology C4023801 HP:0010502 16 Feb 2016 Finding Fibular collateral ligament bursitis MONDO C0158316 MONDO:0004764 17 Apr 2020 Disease Fibular deviation of the 2nd toe Human Phenotype Ontology C4022136 HP:0100344 16 Feb 2016 Finding Fibular deviation of the 3rd toe Human Phenotype Ontology C4022138 HP:0100342 16 Feb 2016 Finding Fibular deviation of the 4th toe Human Phenotype Ontology C4022140 HP:0100340 16 Feb 2016 Finding Fibular deviation of the 5th toe Human Phenotype Ontology C4022134 HP:0100346 16 Feb 2016 Finding Fibular deviation of toes Human Phenotype Ontology C4020970 HP:0100500 16 Feb 2016 Finding Fibular dimelia-diplopodia syndrome MONDO C4303758 MONDO:0015773 17 Apr 2020 Disease Fibular duplication Human Phenotype Ontology C3276742 HP:0010503 16 Feb 2016 Finding Fibular hemimelia MONDO CN206569 MONDO:0019672 17 Apr 2020 Disease Fibular hemimelia, bilateral MONDO MONDO:0017493 17 Apr 2020 Disease Fibular hemimelia, unilateral MONDO MONDO:0017492 17 Apr 2020 Disease Fibular hypoplasia Human Phenotype Ontology C1832119 HP:0003038 16 Feb 2016 Finding Fibular hypoplasia and complex brachydactyly C1856738 228900 16 Feb 2016 Disease Fibular hypoplasia scapulo pelvic dysplasia absent 16 Feb 2016 Disease Fibular metaphyseal irregularity Human Phenotype Ontology C4022532 HP:0030293 16 Feb 2016 Finding Fibular overgrowth Human Phenotype Ontology C1864298 HP:0003099 16 Feb 2016 Finding Fibulo-ulnar hypoplasia-renal anomalies syndrome MONDO C1856727 MONDO:0009233 228940 17 Apr 2020 Disease Fiedler's myocarditis MONDO C0155689 MONDO:0001113 17 Apr 2020 Disease Fifth finger distal phalanx clinodactyly Human Phenotype Ontology C4025139 HP:0005769 16 Feb 2016 Finding Fifth metacarpal with ulnar notch Human Phenotype Ontology C3276324 HP:0005900 16 Feb 2016 Finding FIG4-Related Disorders CN239318 02 Dec 2016 Disease Filamentary keratitis MONDO C0155077 MONDO:0003082 17 Apr 2020 Disease Filamin-related bone disorder MONDO CN227676 MONDO:0019690 17 Apr 2020 Disease Filippi syndrome NCBI curation C0795940 272440 16 Feb 2016 Disease Filoviridae infectious disease MONDO C0242917 MONDO:0005762 04 Jun 2020 Infectious disease filtrum erased 22 Aug 2019 Finding filtrum marked 22 Aug 2019 Finding fine curly hair 22 Aug 2019 Finding Fine hair Human Phenotype Ontology C0423867 HP:0002213 16 Feb 2016 Finding fine motor delay C1735324 05 Sep 2019 Finding Fine upper lip 23 Jan 2020 Finding Fine wrinkles in palms CN235267 19 Feb 2016 Finding Fine, reticulate skin pigmentation Human Phenotype Ontology C4024828 HP:0007617 16 Feb 2016 Finding Fine-Lubinsky syndrome C0795941 601353 16 Feb 2016 Disease Finger agnosia Human Phenotype Ontology C0234509 HP:0010525 16 Feb 2016 Finding Finger agnosia (disease) MONDO MONDO:0000671 17 Apr 2020 Disease Finger clinodactyly Human Phenotype Ontology C0265610 HP:0040019 16 Feb 2016 Finding Finger dactylitis Human Phenotype Ontology C3863761 HP:0031090 04 Apr 2018 Finding Finger flexor weakness Human Phenotype Ontology C4477022 HP:0031177 04 Apr 2018 Finding Finger hyperphalangy Human Phenotype Ontology C4072906 HP:0030367 16 Feb 2016 Finding Finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome MONDO CN204822 MONDO:0018249 17 Apr 2020 Disease Finger joint hypermobility Human Phenotype Ontology C0574974 HP:0006094 16 Feb 2016 Finding Finger locking recurrent with intrauterine growth retardation and proportionate short stature C1851081 135950 16 Feb 2016 Disease finger pads 22 Aug 2019 Finding Finger pain Human Phenotype Ontology C0239589 HP:0030837 02 Apr 2017 Finding Finger swelling Human Phenotype Ontology C0239598 HP:0025131 02 Apr 2017 Finding Finger symphalangism Human Phenotype Ontology C4021399 HP:0009700 02 Apr 2017 Finding Finger syndactyly Human Phenotype Ontology C0221352 HP:0006101 16 Feb 2016 Finding Fingernail dysplasia Human Phenotype Ontology C4020952 HP:0100798 16 Feb 2016 Finding Fingerpad telangiectases Human Phenotype Ontology C1861248 HP:0006107 16 Feb 2016 Finding Fingerprint body myopathy NCBI curation C1844560 305550 16 Feb 2016 Disease Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Human Phenotype Ontology C1836851 HP:0003208 16 Feb 2016 Finding Fingers, relative length of NCBI curation C1851079 136100 16 Feb 2016 Disease Finnish congenital nephrotic syndrome C0403399 256300 16 Feb 2016 Disease Finnish vlincl NCBI curation 16 Feb 2016 Disease Firm muscles Human Phenotype Ontology C1850656 HP:0003725 16 Feb 2016 Finding First branchial cleft anomaly MONDO C3874320 MONDO:0015376 17 Apr 2020 Disease First degree atrioventricular block Human Phenotype Ontology C0085614 HP:0011705 28 Feb 2016 Finding First degree heart block 18 May 2018 Finding First dorsal interossei muscle atrophy Human Phenotype Ontology C1832278 HP:0003426 16 Feb 2016 Finding First dorsal interossei muscle weakness Human Phenotype Ontology C1832277 HP:0003392 16 Feb 2016 Finding Fish allergy MONDO MONDO:0000788 17 Apr 2020 Disease Fish disease MONDO C0016154 MONDO:0024934 17 Apr 2020 Disease Fish odor Human Phenotype Ontology C4477064 HP:0410020 04 Apr 2018 Finding Fish tank granuloma NCBI curation 16 Feb 2016 Disease Fish-eye disease C0342895 136120 16 Feb 2016 Disease Fissured tongue 16 Feb 2016 Disease Fistula of hard palate C1960030 18 Jan 2019 Finding Fistulous vegetative verrucous hydradenoma 16 Feb 2016 Disease Fitz-Hugh-Curtis syndrome NCBI curation C0549148 16 Feb 2016 Disease Fitzsimmons Walson Mellor syndrome 16 Feb 2016 Disease fixed dorsiflexion at bilateral ankle joint 11 May 2019 Finding Fixed elbow flexion Human Phenotype Ontology C4025044 HP:0006471 16 Feb 2016 Finding Fixed facial expression Human Phenotype Ontology C1855353 HP:0005329 16 Feb 2016 Finding Fixed head retroflexion Human Phenotype Ontology C4477023 HP:0031178 04 Apr 2018 Finding Fixed pigmented erythema MONDO C0221242 MONDO:0017395 17 Apr 2020 Disease FKRP-Related Disorder 29 Aug 2019 Disease FKTN-Related Disorders 23 May 2019 Disease Flame-shaped retinal hemorrhage Human Phenotype Ontology C0474357 HP:0025241 02 Apr 2017 Finding Flank pain Human Phenotype Ontology C0016199 HP:0030157 16 Feb 2016 Finding Flared distal fibular metaphysis Human Phenotype Ontology C4022518 HP:0030309 16 Feb 2016 Finding Flared distal tibial metaphysis Human Phenotype Ontology C4022519 HP:0030308 16 Feb 2016 Finding Flared elbow metaphyses Human Phenotype Ontology C4025484 HP:0003950 02 Apr 2017 Finding Flared femoral metaphysis Human Phenotype Ontology C4025674 HP:0002834 16 Feb 2016 Finding Flared humeral metaphysis Human Phenotype Ontology C4020912 HP:0003911 16 Feb 2016 Finding Flared iliac wings Human Phenotype Ontology C1865841 HP:0002869 16 Feb 2016 Finding Flared lower limb metaphysis Human Phenotype Ontology C4022520 HP:0030307 16 Feb 2016 Finding Flared metaphysis Human Phenotype Ontology C1850135 HP:0003015 16 Feb 2016 Finding Flared nostrils Human Phenotype Ontology C4551517 HP:0000454 16 Feb 2016 Finding Flared radial metaphysis Human Phenotype Ontology C4025441 HP:0004018 16 Feb 2016 Finding Flared upper limb metaphysis Human Phenotype Ontology C4021721 HP:0003849 16 Feb 2016 Finding Flared, irregular rib ends Human Phenotype Ontology C1865833 HP:0006603 16 Feb 2016 Finding Flaring of lower rib cage Human Phenotype Ontology C1855196 HP:0006589 16 Feb 2016 Finding Flaring of rib cage Human Phenotype Ontology C1854780 HP:0000904 16 Feb 2016 Finding Flat acetabular roof Human Phenotype Ontology C1837485 HP:0003180 16 Feb 2016 Finding Flat capital femoral epiphysis Human Phenotype Ontology C1842155 HP:0003370 16 Feb 2016 Finding Flat cornea Human Phenotype Ontology C0344529 HP:0007720 16 Feb 2016 Disease Flat distal femoral epiphysis Human Phenotype Ontology C4021599 HP:0006398 16 Feb 2016 Finding Flat ductal epithelial atypia MONDO C1333620 MONDO:0004008 17 Apr 2020 Disease Flat face Human Phenotype Ontology C1853241 HP:0012368 16 Feb 2016 Finding Flat face-microstomia-ear anomaly syndrome MONDO C1866962 MONDO:0008421 182150 17 Apr 2020 Disease Flat forehead Human Phenotype Ontology C1857485 HP:0004425 16 Feb 2016 Finding Flat glenoid fossa Human Phenotype Ontology C1855177 HP:0000911 16 Feb 2016 Finding Flat midface NCBI curation CN239137 27 Nov 2016 Finding Flat nasal alae Human Phenotype Ontology C4023759 HP:0010649 16 Feb 2016 Finding Flat occiput Human Phenotype Ontology C1837402 HP:0005469 16 Feb 2016 Finding Flat posterior fossa Human Phenotype Ontology C4022495 HP:0040011 16 Feb 2016 Finding Flat profile with malar hypoplasia 23 Jan 2020 Finding Flat retinoschisis MONDO C0154817 MONDO:0004578 17 Apr 2020 Disease Flat sella turcica Human Phenotype Ontology C4021952 HP:0100857 16 Feb 2016 Finding Flat urothelial hyperplasia MONDO C1333621 MONDO:0006212 17 Apr 2020 Disease flatfoot 22 Aug 2019 Finding Flattened epiphysis Human Phenotype Ontology C1857527 HP:0003071 16 Feb 2016 Finding Flattened femoral epiphysis Human Phenotype Ontology C1850642 HP:0030289 16 Feb 2016 Finding Flattened femoral head Human Phenotype Ontology C1860601 HP:0008812 16 Feb 2016 Finding Flattened humeral epiphyses Human Phenotype Ontology C4025525 HP:0003895 16 Feb 2016 Finding Flattened humeral heads Human Phenotype Ontology C3808869 HP:0003888 16 Feb 2016 Finding Flattened knee epiphyses Human Phenotype Ontology C4025150 HP:0005715 16 Feb 2016 Finding Flattened metacarpal heads Human Phenotype Ontology C4023134 HP:0011909 16 Feb 2016 Finding Flattened metatarsal heads Human Phenotype Ontology C4025240 HP:0005194 16 Feb 2016 Finding Flattened moderately deformed vertebrae Human Phenotype Ontology C4025142 HP:0005752 16 Feb 2016 Finding Flattened proximal radial epiphyses Human Phenotype Ontology C1849065 HP:0005004 16 Feb 2016 Finding Flattened radial epiphyses Human Phenotype Ontology C4025455 HP:0004002 16 Feb 2016 Finding Flattened radial head Human Phenotype Ontology C4025459 HP:0003996 16 Feb 2016 Finding Flattened, squared-off epiphyses of tubular bones Human Phenotype Ontology C1834961 HP:0006172 16 Feb 2016 Finding Flattening of the talar dome Human Phenotype Ontology C1843986 HP:0008144 16 Feb 2016 Finding Flaujeac trait NCBI curation 16 Feb 2016 Disease Flavimonas oryzihabitans 16 Feb 2016 Disease Flaviviridae infectious disease MONDO CN281776 MONDO:0005763 04 Jun 2020 Infectious disease Fleck corneal dystrophy C1562113 121850 16 Feb 2016 Disease Fleck retina, familial benign NCBI curation C1856718 228980 16 Feb 2016 Disease Fleshy hands with deep creases CN235254 19 Feb 2016 Finding Flexed deformity CN228285 16 Feb 2016 Finding Flexion contracture Human Phenotype Ontology C0333068 HP:0001371 16 Feb 2016 Finding Flexion contracture of 3rd toe Human Phenotype Ontology C4021294 HP:0010333 16 Feb 2016 Finding Flexion contracture of digit Human Phenotype Ontology C1839864 HP:0030044 16 Feb 2016 Finding Flexion contracture of finger Human Phenotype Ontology C1857304 HP:0012785 16 Feb 2016 Finding Flexion contracture of the 2nd finger Human Phenotype Ontology C4021452 HP:0009537 16 Feb 2016 Finding Flexion contracture of the 2nd toe Human Phenotype Ontology C4021296 HP:0010327 16 Feb 2016 Finding Flexion contracture of the 4th toe Human Phenotype Ontology C4021292 HP:0010339 16 Feb 2016 Finding Flexion contracture of the 5th toe Human Phenotype Ontology C4021290 HP:0010345 16 Feb 2016 Finding Flexion contracture of the hallux Human Phenotype Ontology C4021311 HP:0010212 16 Feb 2016 Finding flexion contracture of the left index finger 19 Jul 2019 Finding Flexion contracture of thumb Human Phenotype Ontology C0409346 HP:0009600 16 Feb 2016 Finding Flexion contracture of toe Human Phenotype Ontology C1406835 HP:0005830 16 Feb 2016 Finding flexion deformity 05 Sep 2019 Finding Flexion limitation of toes Human Phenotype Ontology C4024731 HP:0008116 16 Feb 2016 Finding Flexural lichenification Human Phenotype Ontology C4024873 HP:0007453 16 Feb 2016 Finding FLG-Related Disorder 11 Oct 2018 Disease Flibanserin response NCBI curation CN507895 04 Oct 2017 Pharmacological response Flinders island spotted fever MONDO C4505102 MONDO:0000232 04 Jun 2020 Infectious disease FLNA related disorders CN169865 16 Feb 2016 Disease FLNA related lung disease 20 Mar 2019 Disease FLNA-related disorder 13 Oct 2017 Disease FLNB-Related Disorder 13 Oct 2017 Disease FLNB-Related Disorders GeneReviews CN164251 NBK2534 16 Feb 2016 Disease FLNB-Related Spectrum Disorders CN239400 02 Dec 2016 Disease Floating-betalipoproteinemia NCBI curation 16 Feb 2016 Disease Floating-Harbor syndrome C0729582 136140 16 Feb 2016 Disease Flood factor deficiency NCBI curation C1851056 136150 16 Feb 2016 Disease Floor of mouth mucoepidermoid carcinoma MONDO C0280310 MONDO:0006213 17 Apr 2020 Disease Florid cystic endosalpingiosis of the uterus C2931410 16 Feb 2016 Disease FLOTCH syndrome C2931411 16 Feb 2016 Disease Floxacillin response NCBI curation CN231746 16 Feb 2016 Pharmacological response Fluctuating hepatomegaly Human Phenotype Ontology C1835881 HP:0006564 16 Feb 2016 Finding Fluctuating splenomegaly Human Phenotype Ontology C1835882 HP:0006268 16 Feb 2016 Finding Fluctuations in consciousness Human Phenotype Ontology C1851959 HP:0007159 16 Feb 2016 Finding Fluid around optic nerves, bilaterally, prominent 23 Jan 2020 Finding fluid overload 14 Mar 2019 Finding Fluoropyrimidine response NCBI curation CN184090 16 Feb 2016 Pharmacological response fluorouracil and oxaliplatin response - Efficacy PharmGKB CN236475 827847788 18 May 2016 Pharmacological response Fluorouracil response NCBI curation CN077983 16 Feb 2016 Pharmacological response fluorouracil response - Efficacy PharmGKB CN240601 981202230 17 Feb 2017 Pharmacological response fluorouracil response - Efficacy, Toxicity/ADR PharmGKB CN236554 655386635 18 May 2016 Pharmacological response fluorouracil response - Other PharmGKB 1447989706PA128406956 28 Jun 2019 Pharmacological response fluorouracil response - Toxicity/ADR PharmGKB CN236593 981204941 18 May 2016 Pharmacological response fluorouracil response - Toxicity/ADR, Metabolism/PK PharmGKB CN240604 981203618 17 Feb 2017 Pharmacological response fluorouracil, leucovorin, and oxaliplatin response - Efficacy PharmGKB CN236474 1183705832 18 May 2016 Pharmacological response Fluoxetine response CN077984 16 Feb 2016 Pharmacological response fluoxetine response - Efficacy PharmGKB CN236555 1183617724 18 May 2016 Pharmacological response Flurbiprofen response NCBI curation CN258139 24 Jan 2019 Pharmacological response Flushing Human Phenotype Ontology C0016382 HP:0031284 04 Apr 2018 Finding Flushing of ears and somnolence NCBI curation C1851055 136200 16 Feb 2016 Disease fluticasone propionate response - Efficacy PharmGKB CN236556 827864250 18 May 2016 Pharmacological response fluticasone/salmeterol response - Efficacy PharmGKB CN236557 827864250 18 May 2016 Pharmacological response Fluvoxamine response NCBI curation CN221254 16 Feb 2016 Pharmacological response Flying phobia MONDO C0344318 MONDO:0003748 17 Apr 2020 Disease Flynn-Aird syndrome C0343108 136300 16 Feb 2016 Disease FMO3 activity, decreased NCBI curation C4016100 06 Mar 2016 Disease FMTC and Unclassified 16 Feb 2016 Disease FNB1 POLYMORPHISM 16 Feb 2016 Disease Foam cells Human Phenotype Ontology C4281786 HP:0003651 16 Feb 2016 Finding Foam cells in visceral organs and CNS Human Phenotype Ontology C1843373 HP:0003640 16 Feb 2016 Finding Foam cells with lamellar inclusion bodies Human Phenotype Ontology C4025590 HP:0003609 16 Feb 2016 Finding Foamy urine Human Phenotype Ontology C4523940 HP:0031504 04 Apr 2018 Finding Focal absence of the external ear Human Phenotype Ontology C4021874 HP:0400003 16 Feb 2016 Finding Focal acral hyperkeratosis MONDO C1302839 MONDO:0017677 17 Apr 2020 Disease Focal alopecia congenital megalencephaly 16 Feb 2016 Disease Focal autonomic seizures Human Phenotype Ontology C4023509 HP:0011154 16 Feb 2016 Finding Focal autonomic seizures with altered responsiveness Human Phenotype Ontology C4023508 HP:0011155 16 Feb 2016 Finding Focal autonomic seizures without altered responsiveness Human Phenotype Ontology C4023507 HP:0011156 16 Feb 2016 Finding Focal chorioretinitis MONDO C0154870 MONDO:0002164 17 Apr 2020 Disease Focal clonic seizures Human Phenotype Ontology C0752323 HP:0002266 16 Feb 2016 Finding Focal cortical dysplasia of Taylor type 2B NCBI curation C1846389 04 Mar 2016 Disease Focal cortical dysplasia type II NCBI curation C1846385 607341 19 Nov 2017 Disease Focal cortical dysplasia, type IIA NCBI curation CN242223 21 Jun 2017 Disease Focal cortical dysplasia, type IIB NCBI curation CN242221 21 Jun 2017 Disease Focal dermal aplasia/hypoplasia Human Phenotype Ontology C1834069 HP:0007510 16 Feb 2016 Finding Focal dermal hypoplasia C0016395 305600 16 Feb 2016 Disease Focal dystonia Human Phenotype Ontology C1969807 HP:0004373 611284 16 Feb 2016 Finding Focal EEG discharges with propagation to ipsilateral hemisphere Human Phenotype Ontology C4023487 HP:0011187 16 Feb 2016 Finding Focal EEG discharges with secondary generalization Human Phenotype Ontology C4023486 HP:0011188 16 Feb 2016 Finding Focal embolic glomerulonephritis MONDO C0238143 MONDO:0003135 17 Apr 2020 Disease Focal epilepsy NCBI curation C0014547 16 Feb 2016 Disease Focal epilepsy-intellectual disability-cerebro-cerebellar malformation MONDO CN204502 MONDO:0018125 17 Apr 2020 Disease Focal epileptiform discharges with limited propagation to contralateral hemisphere Human Phenotype Ontology C4023488 HP:0011186 16 Feb 2016 Finding Focal epithelial hyperplasia of the oral mucosa NCBI curation C1851009 136400 16 Feb 2016 Disease Focal epithelial hyperplasia, oral NCBI curation C0206067 229045 16 Feb 2016 Disease Focal facial dermal dysplasia OMIM phenotypic series CN231402 PS136500 16 Feb 2016 Disease Focal facial dermal dysplasia Orphanet CN231402 ORPHA398166 16 Feb 2016 Disease Focal facial dermal dysplasia 1, Brauer type NCBI curation C2936827 136500 26 Apr 2020 Disease Focal facial dermal dysplasia 2, Brauer-Setleis type NCBI curation C3554245 614973 16 Feb 2016 Disease Focal facial dermal dysplasia 3, Setleis type NCBI curation C1744559 227260 26 Apr 2020 Disease Focal facial dermal dysplasia 4 NCBI curation C3554246 614974 16 Feb 2016 Disease Focal friction-related palmoplantar hyperkeratosis Human Phenotype Ontology C1835654 HP:0007497 16 Feb 2016 Finding Focal glomerular basement membrane lamellation 14 Jun 2019 Finding Focal hyperextensible skin Human Phenotype Ontology C4024870 HP:0007458 16 Feb 2016 Finding Focal hyperintensity of cerebral white matter on MRI 01 May 2020 Finding Focal intraductal papillomatosis MONDO C1333626 MONDO:0004254 17 Apr 2020 Disease Focal labyrinthitis MONDO C0155505 MONDO:0001820 17 Apr 2020 Disease Focal lissencephaly Human Phenotype Ontology C1855230 HP:0007187 16 Feb 2016 Finding Focal motor seizures Human Phenotype Ontology C0016399 HP:0011153 16 Feb 2016 Finding Focal myoclonic seizures Human Phenotype Ontology C4023501 HP:0011166 16 Feb 2016 Finding Focal myositis MONDO C0409988 MONDO:0018845 17 Apr 2020 Disease Focal necrosis of right ventricular muscle cells Human Phenotype Ontology C4025627 HP:0003338 16 Feb 2016 Finding Focal or multifocal malformations in neuronal migration 16 Feb 2016 Disease Focal palmoplantar and gingival keratoderma MONDO C1835650 MONDO:0007860 148730 17 Apr 2020 Disease Focal palmoplantar keratoderma with joint keratoses MONDO C4755302 MONDO:0018252 17 Apr 2020 Disease Focal pancreatic islet hyperplasia Human Phenotype Ontology C4531266 HP:0031223 04 Apr 2018 Finding Focal segmental glomerulosclerosis OMIM phenotypic series C0017668 PS603278 16 Feb 2016 Finding Focal segmental glomerulosclerosis Human Phenotype Ontology C0017668 HP:0000097 16 Feb 2016 Finding Focal segmental glomerulosclerosis 1 NCBI curation C4551527 603278 16 Feb 2016 Disease Focal Segmental Glomerulosclerosis 10 CN230140 16 Feb 2016 Disease Focal segmental glomerulosclerosis 2 NCBI curation C1858915 603965 16 Feb 2016 Disease Focal segmental glomerulosclerosis 3 NCBI curation C4016880 16 Feb 2016 Disease Focal segmental glomerulosclerosis 3, susceptibility to NCBI curation C1842982 607832 16 Feb 2016 Disease Focal segmental glomerulosclerosis 4, susceptibility to NCBI curation C2675525 612551 16 Feb 2016 Disease Focal segmental glomerulosclerosis 5 NCBI curation C2750475 613237 16 Feb 2016 Disease Focal segmental glomerulosclerosis 6 NCBI curation C3279905 614131 16 Feb 2016 Disease Focal segmental glomerulosclerosis 7 NCBI curation C4014925 616002 16 Feb 2016 Disease Focal segmental glomerulosclerosis 8 NCBI curation C4014993 616032 16 Feb 2016 Disease Focal segmental glomerulosclerosis 9 NCBI curation C4015555 616220 16 Feb 2016 Disease Focal segmental glomerulosclerosis and dilated cardiomyopathy NCBI curation C4016633 16 Feb 2016 Disease Focal seizures Human Phenotype Ontology C0751495 HP:0007359 16 Feb 2016 Finding Focal seizures with impairment of consciousness or awareness Human Phenotype Ontology C0270834 HP:0002384 16 Feb 2016 Finding Focal seizures without impairment of consciousness or awareness Human Phenotype Ontology C0234974 HP:0002349 16 Feb 2016 Finding Focal seizures, afebril Human Phenotype Ontology C4049830 HP:0040168 16 Feb 2016 Finding Focal slowing, left posterior quadrant, right temporal and occipitotemporal 23 Jan 2020 Finding Focal stiff limb syndrome MONDO C4324606 MONDO:0018629 17 Apr 2020 Disease Focal sub-RPE deposits Human Phenotype Ontology C4531063 HP:0031532 04 Apr 2018 Finding Focal subretinal deposits Human Phenotype Ontology C4531066 HP:0031529 04 Apr 2018 Finding Focal T2 hyperintense basal ganglia lesion Human Phenotype Ontology C4024926 HP:0007183 16 Feb 2016 Finding Focal T2 hyperintense brainstem lesion Human Phenotype Ontology C4022748 HP:0012748 16 Feb 2016 Finding Focal T2 hyperintense thalamic lesion Human Phenotype Ontology C4022774 HP:0012692 16 Feb 2016 Finding Focal T2 hypointense basal ganglia lesion Human Phenotype Ontology C4022744 HP:0012752 16 Feb 2016 Finding Focal T2 hypointense brainstem lesion Human Phenotype Ontology C4022747 HP:0012749 16 Feb 2016 Finding Focal T2 hypointense thalamic lesion Human Phenotype Ontology C4022775 HP:0012691 16 Feb 2016 Finding Focal tonic seizures Human Phenotype Ontology C0752324 HP:0011167 16 Feb 2016 Finding Focal white matter lesions Human Phenotype Ontology C4024946 HP:0007042 16 Feb 2016 Finding Focal, segmental or multifocal dystonia MONDO CN200611 MONDO:0015990 17 Apr 2020 Disease Foix Chavany Marie syndrome C2931412 16 Feb 2016 Disease Foix-Alajouanine syndrome MONDO C0472347 MONDO:0019196 17 Apr 2020 Disease Folate deficiency Human Phenotype Ontology C0016412 HP:0100507 16 Feb 2016 Finding Folate level in erythrocytes NCBI curation C1866295 601775 16 Feb 2016 Disease Folate-dependent fragile site at Xq28 Human Phenotype Ontology C1839785 HP:0003564 16 Feb 2016 Finding Folate-responsive megaloblastic anemia Human Phenotype Ontology C2749656 HP:0004851 16 Feb 2016 Finding Folate-unresponsive megaloblastic anemia Human Phenotype Ontology C4025287 HP:0004826 16 Feb 2016 Finding Folic acid deficiency anemia MONDO C0151482 MONDO:0001860 17 Apr 2020 Disease Folic Acid Metabolism Disorder CN231747 16 Feb 2016 Disease Folinic acid-responsive seizures MONDO CN205780 MONDO:0019197 17 Apr 2020 Disease Follicular atrophoderma and basal cell epitheliomata C0346104 301845 16 Feb 2016 Disease Follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts NCBI curation C1863692 603587 16 Feb 2016 Disease Follicular atrophoderma-basal cell carcinoma MONDO CN205972 MONDO:0019317 17 Apr 2020 Disease Follicular basal cell carcinoma MONDO C1883723 MONDO:0002952 17 Apr 2020 Disease Follicular cholangitis and pancreatitis MONDO C4749906 MONDO:0017589 17 Apr 2020 Disease Follicular dendritic cell sarcoma MONDO C1260325 MONDO:0005764 17 Apr 2020 Disease Follicular dendritic cell tumor 16 Feb 2016 Disease Follicular hyperkeratosis Human Phenotype Ontology C0334013 HP:0007502 16 Feb 2016 Finding Follicular hyperplasia Human Phenotype Ontology C4014733 HP:0002729 16 Feb 2016 Finding Follicular ichthyosis 16 Feb 2016 Disease Follicular infundibulum tumor Human Phenotype Ontology C0346006 HP:0031548 04 Apr 2018 Finding Follicular lymphoma NCBI curation C0024301 06 Jul 2018 Disease Follicular lymphoma 1 NCBI curation C2751665 613024 16 Feb 2016 Disease Follicular lymphoreticuloma 16 Feb 2016 Disease Follicular thyroid carcinoma Human Phenotype Ontology C4225426 HP:0006731 188470 04 Apr 2018 Disease Follicular variant thyroid gland papillary carcinoma MONDO C3714651 MONDO:0006214 17 Apr 2020 Disease Folliculitis Human Phenotype Ontology C0016436 HP:0025084 02 Apr 2017 Finding Folliculotropic mycosis fungoides MONDO C1627767 MONDO:0015808 17 Apr 2020 Disease Fontaine Farriaux Blanckaert syndrome 16 Feb 2016 Disease Fontaine progeroid syndrome NCBI curation C2676780 612289 11 Mar 2018 Disease food allergies 05 Sep 2019 Finding food allergy C0016470 18 Jan 2019 Finding Food intolerance Human Phenotype Ontology C0149696 HP:0012537 16 Feb 2016 Finding Food protein-induced allergic proctocolitis MONDO MONDO:0100002 17 Apr 2020 Disease Food protein-induced enterocolitis syndrome MONDO MONDO:0100008 17 Apr 2020 Disease Food-dependent exercise-induced anaphylaxis MONDO MONDO:0100057 17 Apr 2020 Disease Foodborne botulism MONDO C1739094 MONDO:0016453 04 Jun 2020 Infectious disease Foot acroosteolysis Human Phenotype Ontology C4025744 HP:0001842 02 Apr 2017 Finding Foot and mouth disease MONDO C0016514 MONDO:0005765 17 Apr 2020 Disease Foot asymmetry Human Phenotype Ontology C4023799 HP:0010507 16 Feb 2016 Finding Foot disease MONDO C0016510 MONDO:0044989 17 Apr 2020 Disease Foot dorsiflexor weakness Human Phenotype Ontology C1866141 HP:0009027 16 Feb 2016 Finding Foot monodactyly Human Phenotype Ontology C4021896 HP:0200054 02 Apr 2017 Finding Foot oligodactyly Human Phenotype Ontology C4281601 HP:0001849 02 Apr 2017 Finding Foot osteomyelitis Human Phenotype Ontology C4049342 HP:0001886 02 Apr 2017 Finding Foot pain Human Phenotype Ontology C0016512 HP:0025238 02 Apr 2017 Finding Foot polydactyly Human Phenotype Ontology C0158734 HP:0001829 16 Feb 2016 Finding Foot rot MONDO C0016513 MONDO:0024935 17 Apr 2020 Disease Foramen magnum meningioma MONDO C1333630 MONDO:0003109 17 Apr 2020 Disease Forceps delivery Human Phenotype Ontology C1384586 HP:0011411 16 Feb 2016 Finding Forearm reduction defects Human Phenotype Ontology C1849327 HP:0006368 16 Feb 2016 Finding Forearm undergrowth Human Phenotype Ontology C1855299 HP:0009821 16 Feb 2016 Finding Forebrain defects NCBI curation C1861235 16 Feb 2016 Disease Forehead hyperpigmentation Human Phenotype Ontology C1969673 HP:0005336 16 Feb 2016 Finding Form agnosia MONDO MONDO:0000672 17 Apr 2020 Disease Formaldehyde poisoning 16 Feb 2016 Disease forms of dyspnea 05 Sep 2019 Finding Forsythe-wakeling syndrome NCBI curation C3150859 613606 16 Feb 2016 Disease Forward facing earlobe Human Phenotype Ontology C4021177 HP:0011263 16 Feb 2016 Finding Forward slanting upper incisors Human Phenotype Ontology C4293703 HP:0025009 02 Apr 2017 Finding Fossa navicularis urethral stricture Human Phenotype Ontology C4476763 HP:0025413 04 Apr 2018 Finding Foster-Kennedy syndrome MONDO C0152112 MONDO:0001998 17 Apr 2020 Disease Foul smelling and loose stool 23 Jan 2020 Finding found in homozygous in 1 patient with mitochondrial hepatopathy 15 Nov 2019 Finding Fountain syndrome C0795944 229120 16 Feb 2016 Disease Four X syndrome C0265496 16 Feb 2016 Disease Fournier gangrene MONDO C0238419 MONDO:0043352 04 Jun 2020 Infectious disease Fourth branchial cleft anomaly MONDO C3873490 MONDO:0015378 17 Apr 2020 Disease Fourth cranial nerve palsy Human Phenotype Ontology C0271375 HP:0007011 16 Feb 2016 Finding Foveal atrophy Human Phenotype Ontology C4293702 HP:0025010 02 Apr 2017 Finding Foveal degeneration Human Phenotype Ontology C4476613 HP:0025146 02 Apr 2017 Finding Foveal hyperpigmentation Human Phenotype Ontology C3809301 HP:0008001 16 Feb 2016 Finding Foveal hypopigmentation Human Phenotype Ontology C4022807 HP:0012643 16 Feb 2016 Finding Foveal hypoplasia OMIM phenotypic series C2673946 PS136520 17 Apr 2020 Disease Foveal hypoplasia Human Phenotype Ontology C2673946 HP:0007750 17 Apr 2020 Disease Foveal hypoplasia MONDO C2673946 MONDO:0044203 17 Apr 2020 Disease Foveal hypoplasia 1 with cataract NCBI curation C4017067 22 Jun 2016 Disease Foveal hypoplasia 1 with or without anterior segment anomalies NCBI curation C4017657 16 Feb 2016 Disease Foveal hypoplasia 2 NCBI curation C3807873 609218 24 Aug 2016 Disease Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis NCBI curation C4017389 26 May 2016 Disease FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING 16 Feb 2016 Disease FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS 16 Feb 2016 Disease Foveal hypoplasia and presenile cataract syndrome NCBI curation C3805604 136520 16 Feb 2016 Disease Foveal hypoplasia with anterior segment anomalies NCBI curation C1850994 16 Feb 2016 Disease Foveal hypoplasia, isolated NCBI curation C1850993 16 Feb 2016 Disease Foveal hypoplasia-presenile cataract syndrome MONDO C2931644 MONDO:0016395 17 Apr 2020 Disease Foveal hyporeflective spaces on macular OCT Human Phenotype Ontology C4073097 HP:0030627 16 Feb 2016 Finding Foveal inner retinal layer loss on macular OCT Human Phenotype Ontology C4073091 HP:0030621 16 Feb 2016 Finding Foveal intraretinal hyporeflective spaces on macular OCT Human Phenotype Ontology C4073096 HP:0030626 16 Feb 2016 Finding Foveal photoreceptor layer loss on macular OCT Human Phenotype Ontology C4073084 HP:0030614 16 Feb 2016 Finding Foveal photoreceptor outer segment loss on macular OCT Human Phenotype Ontology C4073085 HP:0030615 16 Feb 2016 Finding Foveal retinal pigment epithelial loss on macular OCT Human Phenotype Ontology C4073086 HP:0030616 16 Feb 2016 Finding Foveal subretinal hyporeflective spaces on macular OCT Human Phenotype Ontology C4073098 HP:0030628 16 Feb 2016 Finding Foveoschisis Human Phenotype Ontology C2674407 HP:0012152 16 Feb 2016 Finding Fowler's syndrome 16 Feb 2016 Disease Fowlpox MONDO C0016629 MONDO:0025417 17 Apr 2020 Disease Fox-Fordyce disease C0016632 16 Feb 2016 Disease FOXE3-Related Cataracts, Autosomal Dominant CN230135 16 Feb 2016 Disease FOXG1 disorder MONDO MONDO:0100040 17 Apr 2020 Disease Fracture, hip, susceptibility to C2674640 24 Aug 2016 Disease Fractured forearm bones Human Phenotype Ontology C4025477 HP:0003961 16 Feb 2016 Finding Fractured hand bones Human Phenotype Ontology C0435632 HP:0004277 16 Feb 2016 Finding Fractured radius Human Phenotype Ontology C0034628 HP:0003978 16 Feb 2016 Finding Fractured ulna Human Phenotype Ontology C0041601 HP:0003987 16 Feb 2016 Finding Fractures of the long bones Human Phenotype Ontology C0240231 HP:0003084 16 Feb 2016 Finding Fragile nails Human Phenotype Ontology C1856963 HP:0001808 16 Feb 2016 Finding Fragile site 10q23 NCBI curation C1850987 136540 16 Feb 2016 Disease Fragile site 10q23.3 NCBI curation 16 Feb 2016 Disease Fragile site 10q25 NCBI curation C1850980 136620 16 Feb 2016 Disease Fragile site 16p12 NCBI curation 16 Feb 2016 Disease Fragile site 17p12 NCBI curation C1850977 136660 16 Feb 2016 Disease Fragile site 9q32 NCBI curation C1850978 136640 16 Feb 2016 Disease Fragile skin Human Phenotype Ontology C0241181 HP:0001030 16 Feb 2016 Finding Fragile teeth Human Phenotype Ontology C2674620 HP:0025124 02 Apr 2017 Finding Fragile x premature ovarian failure NCBI curation 16 Feb 2016 Disease Fragile X syndrome C0016667 300624 16 Feb 2016 Disease Fragile X syndrome type 1 16 Feb 2016 Disease Fragile X syndrome type 2 16 Feb 2016 Disease Fragile X syndrome type 3 16 Feb 2016 Disease Fragile X tremor/ataxia syndrome NCBI curation C1839780 300623 16 Feb 2016 Disease Fragmentation of the epiphyses of the 2nd finger Human Phenotype Ontology C4024333 HP:0009492 16 Feb 2016 Finding Fragmentation of the epiphyses of the 2nd toe Human Phenotype Ontology C4022373 HP:0100048 16 Feb 2016 Finding Fragmentation of the epiphyses of the 3rd finger Human Phenotype Ontology C4024379 HP:0009414 16 Feb 2016 Finding Fragmentation of the epiphyses of the 3rd toe Human Phenotype Ontology C4022362 HP:0100059 16 Feb 2016 Finding Fragmentation of the epiphyses of the 4th finger Human Phenotype Ontology C4024393 HP:0009397 16 Feb 2016 Finding Fragmentation of the epiphyses of the 4th toe Human Phenotype Ontology C4022351 HP:0100070 16 Feb 2016 Finding Fragmentation of the epiphyses of the 5th finger Human Phenotype Ontology C4024403 HP:0009386 16 Feb 2016 Finding Fragmentation of the epiphyses of the 5th toe Human Phenotype Ontology C4022340 HP:0100081 16 Feb 2016 Finding Fragmentation of the epiphyses of the distal phalanges of the hand Human Phenotype Ontology C4023949 HP:0010250 16 Feb 2016 Finding Fragmentation of the epiphyses of the hallux Human Phenotype Ontology C4024042 HP:0010117 16 Feb 2016 Finding Fragmentation of the epiphyses of the middle phalanges of the hand Human Phenotype Ontology C4023940 HP:0010261 16 Feb 2016 Finding Fragmentation of the epiphyses of the phalanges of the hand Human Phenotype Ontology C4021308 HP:0010232 16 Feb 2016 Finding Fragmentation of the epiphyses of the proximal phalanges of the hand Human Phenotype Ontology C4023929 HP:0010272 16 Feb 2016 Finding Fragmentation of the epiphyses of the toes Human Phenotype Ontology C4023993 HP:0010166 16 Feb 2016 Finding Fragmentation of the epiphysis of the 1st metacarpal Human Phenotype Ontology C4024104 HP:0010019 16 Feb 2016 Finding Fragmentation of the epiphysis of the 1st metatarsal Human Phenotype Ontology C4024006 HP:0010153 16 Feb 2016 Finding Fragmentation of the epiphysis of the distal phalanx of the 2nd finger Human Phenotype Ontology C4024324 HP:0009506 16 Feb 2016 Finding Fragmentation of the epiphysis of the distal phalanx of the 2nd toe Human Phenotype Ontology C4022317 HP:0100104 16 Feb 2016 Finding Fragmentation of the epiphysis of the distal phalanx of the 3rd finger Human Phenotype Ontology C4024428 HP:0009339 16 Feb 2016 Finding Fragmentation of the epiphysis of the distal phalanx of the 3rd toe Human Phenotype Ontology C4022282 HP:0100139 16 Feb 2016 Finding Fragmentation of the epiphysis of the distal phalanx of the 4th finger Human Phenotype Ontology C4024493 HP:0009254 16 Feb 2016 Finding Fragmentation of the epiphysis of the distal phalanx of the 4th toe Human Phenotype Ontology C4022248 HP:0100173 16 Feb 2016 Finding Fragmentation of the epiphysis of the distal phalanx of the 5th finger Human Phenotype Ontology C4024562 HP:0009166 16 Feb 2016 Finding Fragmentation of the epiphysis of the distal phalanx of the 5th toe Human Phenotype Ontology C4022215 HP:0100206 16 Feb 2016 Finding Fragmentation of the epiphysis of the distal phalanx of the hallux Human Phenotype Ontology C4024017 HP:0010142 16 Feb 2016 Finding Fragmentation of the epiphysis of the distal phalanx of the thumb Human Phenotype Ontology C4024240 HP:0009679 16 Feb 2016 Finding Fragmentation of the epiphysis of the middle phalanx of the 2nd finger Human Phenotype Ontology C4024316 HP:0009517 16 Feb 2016 Finding Fragmentation of the epiphysis of the middle phalanx of the 2nd toe Human Phenotype Ontology C4022306 HP:0100115 16 Feb 2016 Finding Fragmentation of the epiphysis of the middle phalanx of the 3rd finger Human Phenotype Ontology C4024440 HP:0009325 16 Feb 2016 Finding Fragmentation of the epiphysis of the middle phalanx of the 3rd toe Human Phenotype Ontology C4022271 HP:0100150 16 Feb 2016 Finding Fragmentation of the epiphysis of the middle phalanx of the 4th finger Human Phenotype Ontology C4024523 HP:0009218 16 Feb 2016 Finding Fragmentation of the epiphysis of the middle phalanx of the 4th toe Human Phenotype Ontology C4022237 HP:0100184 16 Feb 2016 Finding Fragmentation of the epiphysis of the middle phalanx of the 5th finger Human Phenotype Ontology C4024533 HP:0009207 16 Feb 2016 Finding Fragmentation of the epiphysis of the middle phalanx of the 5th toe Human Phenotype Ontology C4022204 HP:0100217 16 Feb 2016 Finding Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger Human Phenotype Ontology C4024308 HP:0009528 16 Feb 2016 Finding Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe Human Phenotype Ontology C4022295 HP:0100126 16 Feb 2016 Finding Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger Human Phenotype Ontology C4024419 HP:0009350 16 Feb 2016 Finding Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe Human Phenotype Ontology C4022260 HP:0100161 16 Feb 2016 Finding Fragmentation of the epiphysis of the proximal phalanx of the 4th finger Human Phenotype Ontology C4024484 HP:0009265 16 Feb 2016 Finding Fragmentation of the epiphysis of the proximal phalanx of the 4th toe Human Phenotype Ontology C4022226 HP:0100195 16 Feb 2016 Finding Fragmentation of the epiphysis of the proximal phalanx of the 5th finger Human Phenotype Ontology C4024538 HP:0009202 16 Feb 2016 Finding Fragmentation of the epiphysis of the proximal phalanx of the 5th toe Human Phenotype Ontology C4022193 HP:0100228 16 Feb 2016 Finding Fragmentation of the epiphysis of the proximal phalanx of the hallux Human Phenotype Ontology C4024028 HP:0010131 16 Feb 2016 Finding Fragmentation of the epiphysis of the proximal phalanx of the thumb Human Phenotype Ontology C4024249 HP:0009668 16 Feb 2016 Finding Fragmentation of the metacarpal epiphyses Human Phenotype Ontology C4024547 HP:0009189 16 Feb 2016 Finding Fragmentation of thumb epiphysis Human Phenotype Ontology C4021405 HP:0009690 16 Feb 2016 Finding Fragmented elastic fibers in the dermis Human Phenotype Ontology C4476632 HP:0025167 02 Apr 2017 Finding Fragmented epiphyses Human Phenotype Ontology C4022253 HP:0100168 16 Feb 2016 Finding Fragmented epiphyses of the upper limbs Human Phenotype Ontology C4025559 HP:0003841 16 Feb 2016 Finding Fragmented, irregular epiphyses Human Phenotype Ontology C1867494 HP:0005063 16 Feb 2016 Finding Fragoso Cid Garcia Hernandez syndrome 16 Feb 2016 Disease Franceschini Vardeu Guala syndrome C2931463 16 Feb 2016 Disease Francois syndrome C0432288 221800 16 Feb 2016 Disease Franek Bocker kahlen syndrome 16 Feb 2016 Disease Frank breech presentation Human Phenotype Ontology C0233286 HP:0010859 16 Feb 2016 Finding Frank-Ter Haar syndrome MONDO C1855305 MONDO:0009579 249420 22 Apr 2020 Disease Fraser Jequier Chen syndrome C2930912 16 Feb 2016 Disease Fraser syndrome 1 NCBI curation C4551480 219000 25 Jan 2020 Disease FRASER SYNDROME 2 OMIM C4540036 617666 617666 15 Sep 2017 Disease FRASER SYNDROME 3 OMIM C4540040 617667 617667 15 Sep 2017 Disease Fraser-like syndrome NCBI curation C1856708 229230 16 Feb 2016 Disease Frasier syndrome C0950122 136680 16 Feb 2016 Disease Fraxd NCBI curation 16 Feb 2016 Disease FRAXD syndrome MONDO MONDO:0023099 17 Apr 2020 Disease FRAXE NCBI curation C0751157 309548 16 Feb 2016 Disease FRAXF syndrome MONDO C4274329 MONDO:0015084 17 Apr 2020 Disease Frayed humeral metaphyses Human Phenotype Ontology C4025514 HP:0003912 16 Feb 2016 Finding Freckled genitalia Human Phenotype Ontology C4021040 HP:0030257 16 Feb 2016 Finding Freckles in sun-exposed areas Human Phenotype Ontology C1859923 HP:0007603 16 Feb 2016 Finding Freckling Human Phenotype Ontology C0016689 HP:0001480 16 Feb 2016 Finding Freeman-Sheldon syndrome C0265224 193700 16 Feb 2016 Disease Freemartinism MONDO C0016697 MONDO:0006762 17 Apr 2020 Disease Freesia flowers, inability to smell NCBI curation C1856707 229250 16 Feb 2016 Disease Freiberg disease MONDO C0264099 MONDO:0023188 17 Apr 2020 Disease Freiberg's disease 16 Feb 2016 Disease Freire-Maia odontotrichomelic syndrome NCBI curation C2930960 273400 16 Feb 2016 Disease Frenkel Russe syndrome 16 Feb 2016 Disease Frequency Human Phenotype Ontology C4321352 HP:0040279 02 Apr 2017 Finding Frequent Human Phenotype Ontology C0332183 HP:0040282 02 Apr 2017 Finding Frequent colitis 23 Jan 2020 Finding Frequent falls Human Phenotype Ontology C0850703 HP:0002359 16 Feb 2016 Finding Frequent Giardia lamblia infestation Human Phenotype Ontology C4025235 HP:0005215 16 Feb 2016 Finding Frequent loose bowel movements 23 Jan 2020 Finding Frequent respiratory infections in childhood 23 Jan 2020 Finding Frequent temper tantrums Human Phenotype Ontology C4476626 HP:0025161 02 Apr 2017 Finding Frey syndrome MONDO C0038994 MONDO:0007753 144100 17 Apr 2020 Disease Fried Goldberg Mundel syndrome 16 Feb 2016 Disease Fried syndrome MONDO C4305134 MONDO:0019428 17 Apr 2020 Disease Friedman Goodman syndrome 16 Feb 2016 Disease Friedreich ataxia 1 NCBI curation C1856689 229300 16 Feb 2016 Disease Friedreich ataxia 2 NCBI curation C1865981 601992 16 Feb 2016 Disease Friedreich ataxia and congenital glaucoma MONDO C1856688 MONDO:0009246 229310 22 Apr 2020 Disease Friedreich ataxia with retained reflexes NCBI curation C1847416 16 Feb 2016 Disease Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness NCBI curation C1850982 136600 16 Feb 2016 Disease Friedreich's ataxia NCBI curation C0016719 16 Feb 2016 Disease friendly behavior 22 Aug 2019 Finding Frints De Smet Fabry Fryns syndrome 16 Feb 2016 Disease Froelich syndrome 16 Feb 2016 Disease Frog-leg posture Human Phenotype Ontology C4476998 HP:0031139 04 Apr 2018 Finding Frontal balding Human Phenotype Ontology C1864584 HP:0002292 16 Feb 2016 Finding Frontal bossing Human Phenotype Ontology C0221354 HP:0002007 16 Feb 2016 Finding Frontal convexity meningioma MONDO C1333643 MONDO:0004426 17 Apr 2020 Disease Frontal cortical atrophy Human Phenotype Ontology C4024965 HP:0006913 16 Feb 2016 Finding Frontal cutaneous lipoma Human Phenotype Ontology C1850970 HP:0007541 16 Feb 2016 Finding Frontal encephalocele Human Phenotype Ontology C0431289 HP:0007330 16 Feb 2016 Finding Frontal hirsutism Human Phenotype Ontology C1839830 HP:0011335 16 Feb 2016 Finding Frontal lobe atrophy C3279888 16 Feb 2016 Finding Frontal lobe dementia Human Phenotype Ontology C0338455 HP:0000727 16 Feb 2016 Finding Frontal lobe ependymal tumor MONDO C4330009 MONDO:0021131 17 Apr 2020 Disease Frontal lobe epilepsy MONDO C0085541 MONDO:0002612 17 Apr 2020 Disease Frontal lobe neoplasm MONDO C1263886 MONDO:0001421 17 Apr 2020 Disease frontal lobe syndrome C0549117 18 Jan 2019 Finding frontal lobe-executive function deficit 05 Sep 2019 Finding Frontal open bite Human Phenotype Ontology C1857012 HP:0200094 16 Feb 2016 Finding Frontal release signs Human Phenotype Ontology C1833297 HP:0000743 16 Feb 2016 Finding Frontal sinus cancer MONDO C0153478 MONDO:0001756 17 Apr 2020 Disease Frontal sinus inverted papilloma MONDO C1333644 MONDO:0004448 17 Apr 2020 Disease Frontal sinus neoplasm MONDO C0345672 MONDO:0001757 17 Apr 2020 Disease Frontal sinus Schneiderian papilloma MONDO C1333645 MONDO:0003752 17 Apr 2020 Disease Frontal sinus squamous cell carcinoma MONDO C1333646 MONDO:0002301 17 Apr 2020 Disease Frontal sinusitis MONDO C0016735 MONDO:0001121 17 Apr 2020 Disease Frontal upsweep of hair Human Phenotype Ontology C1185616 HP:0002236 16 Feb 2016 Finding Frontal venous angioma Human Phenotype Ontology C4022887 HP:0012482 16 Feb 2016 Finding Frontalis muscle weakness Human Phenotype Ontology C1859438 HP:0004661 16 Feb 2016 Finding Fronto nasal malformation cloacal exstrophy 16 Feb 2016 Disease Frontoethmoidal meningocele Human Phenotype Ontology C4280798 HP:0030729 02 Apr 2017 Finding Frontofacionasal dysplasia C2931720 229400 16 Feb 2016 Disease Frontolimbic dementia Human Phenotype Ontology C1836151 HP:0002439 16 Feb 2016 Finding Frontomalar faciosynostosis Human Phenotype Ontology C4021870 HP:0430004 16 Feb 2016 Finding Frontometaphyseal dysplasia OMIM phenotypic series C0265293 PS305620 08 Feb 2020 Disease Frontometaphyseal dysplasia 1 NCBI curation C4281559 305620 08 Feb 2020 Disease Frontometaphyseal dysplasia 2 NCBI curation C4310697 617137 20 Jun 2017 Disease Frontonasal arteriovenous malformation MONDO CN226674 MONDO:0015400 17 Apr 2020 Disease Frontonasal dysplasia OMIM phenotypic series CN230756 PS136760 16 Feb 2016 Disease Frontonasal dysplasia 1 NCBI curation C1876203 136760 16 Feb 2016 Disease Frontonasal dysplasia 2 NCBI curation C3150703 613451 16 Feb 2016 Disease Frontonasal dysplasia 3 NCBI curation C3150706 613456 16 Feb 2016 Disease Frontonasal dysplasia acromelic 16 Feb 2016 Disease Frontonasal dysplasia Klippel Feil syndrome 16 Feb 2016 Disease Frontonasal dysplasia phocomelic upper limbs 16 Feb 2016 Disease Frontonasal malformation cloacal exstrophy MONDO MONDO:0023196 17 Apr 2020 Disease Frontoocular syndrome NCBI curation C1854405 605321 16 Feb 2016 Disease Frontootopalatodigital osteodysplasia NCBI curation 16 Feb 2016 Disease Frontoparietal cortical dysplasia Human Phenotype Ontology C4024959 HP:0006930 16 Feb 2016 Finding Frontoparietal polymicrogyria Human Phenotype Ontology C3279674 HP:0007095 16 Feb 2016 Finding Frontotemporal cerebral atrophy Human Phenotype Ontology C4021584 HP:0006892 16 Feb 2016 Finding Frontotemporal degeneration with dementia MONDO CN207021 MONDO:0020137 17 Apr 2020 Disease Frontotemporal dementia Human Phenotype Ontology C0338451 HP:0002145 600274 16 Feb 2016 Disease Frontotemporal dementia and/or amyotrophic lateral sclerosis NCBI curation CN239493 05 Dec 2016 Disease Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 NCBI curation C4014648 615911 16 Feb 2016 Disease Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 NCBI curation C4225326 616437 16 Feb 2016 Disease Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 NCBI curation C4225325 616439 16 Feb 2016 Disease FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED C3148872 16 Feb 2016 Disease Frontotemporal Dementia, Chromosome 3-Linked GeneReviews C1833296 NBK1199 600795 16 Feb 2016 Disease Frontotemporal dementia, right temporal atrophy variant MONDO CN203142 MONDO:0017399 17 Apr 2020 Disease FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, SUSCEPTIBILITY TO 16 Feb 2016 Disease Frontotemporal lobar degeneration, TARDBP-related CN260035 18 Jun 2019 Disease Frontotemporal neurodegeneration with movement disorder MONDO CN227167 MONDO:0017643 17 Apr 2020 Disease Froster huch syndrome 16 Feb 2016 Disease Froster Iskenius Waterson syndrome 16 Feb 2016 Disease Frozen shoulder MONDO C0311223 MONDO:0006763 17 Apr 2020 Disease Fructose and galactose intolerance NCBI curation C1856686 229500 16 Feb 2016 Disease Fructose uptake deficiency, SLC2A5 related CN235215 19 Feb 2016 Disease Fructose utilization NCBI curation C1856672 229650 16 Feb 2016 Disease Fructose-biphosphatase deficiency C0016756 229700 16 Feb 2016 Disease Fructosuria, essential NCBI curation C0268160 229800 16 Feb 2016 Disease Fruit allergy MONDO MONDO:0000778 17 Apr 2020 Disease Frydman Cohen Ashenazi syndrome 16 Feb 2016 Disease Frydman Cohen Karmon syndrome 16 Feb 2016 Disease Fryer syndrome 16 Feb 2016 Disease Fryns Fabry Remans syndrome 16 Feb 2016 Disease Fryns macrocephaly NCBI curation C1838281 600302 16 Feb 2016 Disease Fryns smeets thiry syndrome 16 Feb 2016 Disease Fryns syndrome C0220730 229850 16 Feb 2016 Disease FSH releasing protein deficiency CN236389 29 Apr 2016 Disease FSHR-Related Disorders 23 May 2019 Disease FTLD-TDP, TARDBP-RELATED 16 Feb 2016 Disease ftontotemporal dementia 07 May 2020 Finding FTT CN238742 19 Oct 2016 Finding FTT/Undergrowth CN280281 29 Jun 2017 Finding FU1/FU2 POLYMORPHISM 16 Feb 2016 Disease Fuchs atrophia gyrata chorioideae et retinae C2931721 16 Feb 2016 Disease Fuchs endothelial corneal dystrophy NCBI curation CN230400 16 Feb 2016 Disease Fuchs heterochromic iridocyclitis C0016782 16 Feb 2016 Disease Fucosidase regulator NCBI curation C1850954 136830 16 Feb 2016 Disease Fucosidase, plasma, low NCBI curation 16 Feb 2016 Disease Fucosidosis C0016788 230000 16 Feb 2016 Disease Fucosyltransferase 6 deficiency NCBI curation C3151219 613852 16 Feb 2016 Disease Fuhrmann syndrome C1856728 228930 16 Feb 2016 Disease Fukuda-Miyanomae-Nakata syndrome MONDO CN272260 MONDO:0023204 22 Apr 2020 Disease Fukuyama congenital muscular dystrophy C0410174 253800 16 Feb 2016 Disease Full cheeks Human Phenotype Ontology C1866231 HP:0000293 16 Feb 2016 Finding Full upper and lower lip 23 Jan 2020 Finding Full-thickness macular hole Human Phenotype Ontology C2733564 HP:0031152 04 Apr 2018 Finding Fullness of paranasal tissue Human Phenotype Ontology C4021065 HP:0012812 16 Feb 2016 Finding fullness of the upper eyelid 22 Aug 2019 Finding fullness of upper eyelids 22 Aug 2019 Finding Fulminant hepatic failure Human Phenotype Ontology CN237792 HP:0004448 04 Apr 2018 Disease Fulminant hepatitis Human Phenotype Ontology C0302809 HP:0004787 16 Feb 2016 Finding Fulminant viral hepatitis MONDO CN204470 MONDO:0018109 17 Apr 2020 Disease Fulvestrant response CN077986 16 Feb 2016 Pharmacological response Fumarase deficiency NCBI curation C0342770 606812 16 Feb 2016 Disease Fumarylacetoacetase pseudodeficiency NCBI curation C4017342 16 Feb 2016 Disease Functional abnormality of male internal genitalia Human Phenotype Ontology C4025898 HP:0000025 16 Feb 2016 Finding Functional abnormality of the bladder Human Phenotype Ontology C3806583 HP:0000009 16 Feb 2016 Finding Functional abnormality of the gastrointestinal tract Human Phenotype Ontology C4022755 HP:0012719 16 Feb 2016 Finding Functional abnormality of the inner ear Human Phenotype Ontology C4023382 HP:0011389 16 Feb 2016 Finding Functional abnormality of the middle ear Human Phenotype Ontology C4021846 HP:0011452 16 Feb 2016 Finding Functional colonic disease MONDO C0009374 MONDO:0002802 17 Apr 2020 Disease Functional diarrhea MONDO C0156173 MONDO:0001272 17 Apr 2020 Disease functional disorders of bladder 14 Mar 2019 Finding Functional gastric disease MONDO MONDO:0001318 17 Apr 2020 Disease Functional intestinal obstruction Human Phenotype Ontology C3639956 HP:0005249 16 Feb 2016 Finding Functional motor deficit Human Phenotype Ontology C4025360 HP:0004302 04 Apr 2018 Finding Functional neutrophil defect MONDO CN226820 MONDO:0015978 17 Apr 2020 Disease Functional pancreatic neuroendocrine tumor MONDO C1708107 MONDO:0023206 17 Apr 2020 Disease Functional respiratory abnormality Human Phenotype Ontology C1260922 HP:0002795 16 Feb 2016 Finding Functional variant of Guillain-Barre syndrome MONDO CN201497 MONDO:0016495 17 Apr 2020 Disease Functioning endocrine neoplasm MONDO C2986655 MONDO:0021120 17 Apr 2020 Disease Functioning gonadotropic adenoma MONDO C0346304 MONDO:0019612 17 Apr 2020 Disease Functioning pancreatic endocrine tumor 16 Feb 2016 Disease Functioning pituitary gland adenoma MONDO C0854486 MONDO:0003429 17 Apr 2020 Disease Functioning pituitary gland neoplasm MONDO C0851693 MONDO:0003604 17 Apr 2020 Disease Fundus albipunctatus, autosomal recessive NCBI curation C4016746 16 Feb 2016 Disease Fundus atrophy Human Phenotype Ontology C2673929 HP:0001099 16 Feb 2016 Finding Fundus dystrophy, pseudoinflammatory, recessive form MONDO C1849694 MONDO:0009918 264420 22 Apr 2020 Disease Fundus pulverulentus MONDO C4749286 MONDO:0020383 17 Apr 2020 Disease Fungal esophagitis MONDO C0341109 MONDO:0001649 04 Jun 2020 Infectious disease Fungal gastritis MONDO C0948638 MONDO:0002843 04 Jun 2020 Infectious disease Fungal infection of eye MONDO C0015405 MONDO:0020944 04 Jun 2020 Infectious disease Fungal infectious disease MONDO CN281742 MONDO:0002041 04 Jun 2020 Infectious disease Fungal keratitis MONDO C1262117 MONDO:0033821 04 Jun 2020 Infectious disease Fungal lung infectious disease MONDO C0024116 MONDO:0005766 04 Jun 2020 Infectious disease Fungal meningitis MONDO C0085438 MONDO:0006764 04 Jun 2020 Infectious disease Fungal myositis MONDO C0410251 MONDO:0016130 04 Jun 2020 Infectious disease Funisitis MONDO C1275592 MONDO:0000410 17 Apr 2020 Disease Fuqua Berkovitz syndrome 16 Feb 2016 Disease Furcate cord insertion Human Phenotype Ontology C4073116 HP:0030660 02 Apr 2017 Finding furosemide and spironolactone response - Efficacy PharmGKB CN236476 981202806 18 May 2016 Pharmacological response Furrowed tongue Human Phenotype Ontology C0040412 HP:0000221 16 Feb 2016 Finding Furuncular myiasis MONDO CN281688 MONDO:0018941 17 Apr 2020 Infectious disease Furunculosis MONDO C0016867 MONDO:0025419 17 Apr 2020 Disease Fusariosis MONDO C0276758 MONDO:0016426 04 Jun 2020 Infectious disease Fused cervical vertebrae Human Phenotype Ontology C3887527 HP:0002949 16 Feb 2016 Finding Fused fourth and fifth metacarpals Human Phenotype Ontology C1859768 HP:0005867 16 Feb 2016 Finding fused kidneys 08 May 2020 Finding Fused labia majora Human Phenotype Ontology C4476806 HP:0025486 04 Apr 2018 Finding Fused labia minora Human Phenotype Ontology C1837532 HP:0000063 16 Feb 2016 Finding Fused lips Human Phenotype Ontology C4021970 HP:0100788 16 Feb 2016 Finding Fused lumbar vertebrae Human Phenotype Ontology C4022663 HP:0030040 16 Feb 2016 Finding Fused mandibular incisors NCBI curation C3494175 147251 16 Feb 2016 Disease Fused nails Human Phenotype Ontology C4023419 HP:0011312 16 Feb 2016 Finding Fused sternal ossification centers Human Phenotype Ontology C1859376 HP:0006643 16 Feb 2016 Finding Fused teeth Human Phenotype Ontology C0016873 HP:0011090 273000 10 Apr 2018 Disease Fused thoracic vertebrae Human Phenotype Ontology C4022664 HP:0030039 16 Feb 2016 Finding Fusiform cerebral aneurysm Human Phenotype Ontology C4476937 HP:0031056 04 Apr 2018 Finding fusiform swelling of hands 13 Feb 2020 Finding Fusion of gums Human Phenotype Ontology C4022966 HP:0012292 16 Feb 2016 Finding Fusion of midcervical facet joints Human Phenotype Ontology C1847394 HP:0004575 16 Feb 2016 Finding Fusion of middle ear ossicles Human Phenotype Ontology C1862068 HP:0005473 16 Feb 2016 Finding Fusion of midphalangeal joints Human Phenotype Ontology C1861332 HP:0006187 16 Feb 2016 Finding fusion of posterior elements of C2 and C3 vertebrae 13 May 2019 Finding Fusion of the cerebellar hemispheres Human Phenotype Ontology C1866131 HP:0006899 16 Feb 2016 Finding Fusion of the left and right thalami Human Phenotype Ontology C1834930 HP:0010664 16 Feb 2016 Finding Fusobacteriaceae infectious disease MONDO C1258222 MONDO:0006925 04 Jun 2020 Infectious disease Fusobacterium infectious disease MONDO C4039413 MONDO:0006765 04 Jun 2020 Infectious disease fussiness 18 Aug 2017 Finding Futcher line NCBI curation C1850937 137000 16 Feb 2016 Disease G-tube/reflux CN235303 20 Feb 2016 Finding G5T2P2 high titre anti-D was observed. 02 Dec 2017 Finding G6PD A+ 16 Feb 2016 Named protein variant G6PD AGRIGENTO 16 Feb 2016 Named protein variant G6PD ALHAMBRA 16 Feb 2016 Named protein variant G6PD ANAHEIM 16 Feb 2016 Named protein variant G6PD ANANT 16 Feb 2016 Named protein variant G6PD ANDALUS 16 Feb 2016 Named protein variant G6PD ASAHI 16 Feb 2016 Named protein variant G6PD AURES 16 Feb 2016 Named protein variant G6PD AVEIRO 16 Feb 2016 Named protein variant G6PD BEVERLY HILLS 16 Feb 2016 Named protein variant G6PD CAGLIARI 16 Feb 2016 Named protein variant G6PD CANTON 16 Feb 2016 Named protein variant G6PD CHATHAM 16 Feb 2016 Named protein variant G6PD COIMBRA 16 Feb 2016 Named protein variant G6PD COSENZA 16 Feb 2016 Named protein variant G6PD deficiency 15 Mar 2018 Finding G6PD DHON 16 Feb 2016 Named protein variant G6PD GAOHE 16 Feb 2016 Named protein variant G6PD GASTONIA 16 Feb 2016 Named protein variant G6PD GIFU 16 Feb 2016 Named protein variant G6PD GUADALAJARA 16 Feb 2016 Named protein variant G6PD HARILAOU 16 Feb 2016 Named protein variant G6PD IERAPETRA 16 Feb 2016 Named protein variant G6PD ILESHA 16 Feb 2016 Named protein variant G6PD IOWA 16 Feb 2016 Named protein variant G6PD IOWA CITY 16 Feb 2016 Named protein variant G6PD JAMMU 16 Feb 2016 Named protein variant G6PD JAPAN 16 Feb 2016 Named protein variant G6PD KAIPING 16 Feb 2016 Named protein variant G6PD KALYAN 16 Feb 2016 Named protein variant G6PD KERALA 16 Feb 2016 Named protein variant G6PD KERALA-KALYAN 16 Feb 2016 Named protein variant G6PD LOMA LINDA 16 Feb 2016 Named protein variant G6PD MAHIDOL 16 Feb 2016 Named protein variant G6PD MAHIDOL-LIKE 16 Feb 2016 Named protein variant G6PD MALAGA 16 Feb 2016 Named protein variant G6PD MARION 16 Feb 2016 Named protein variant G6PD MEDITERRANEAN 16 Feb 2016 Named protein variant G6PD METAPONTO 16 Feb 2016 Named protein variant G6PD MEXICO CITY 16 Feb 2016 Named protein variant G6PD MINNESOTA 16 Feb 2016 Named protein variant G6PD MODENA 16 Feb 2016 Named protein variant G6PD NAMORU 16 Feb 2016 Named protein variant G6PD NANKANG 16 Feb 2016 Named protein variant G6PD NASHVILLE 16 Feb 2016 Named protein variant G6PD NEAPOLIS 16 Feb 2016 Named protein variant G6PD NILGIRI 16 Feb 2016 Named protein variant G6PD ORISSA 16 Feb 2016 Named protein variant G6PD PAWNEE 16 Feb 2016 Named protein variant G6PD PETRICH-LIKE 16 Feb 2016 Named protein variant G6PD PORTICI 16 Feb 2016 Named protein variant G6PD PUERTO LIMON 16 Feb 2016 Named protein variant G6PD QUING YUAN 16 Feb 2016 Named protein variant G6PD REHOVOT 16 Feb 2016 Named protein variant G6PD RIVERSIDE 16 Feb 2016 Named protein variant G6PD SANTAMARIA 16 Feb 2016 Named protein variant G6PD SANTIAGO 16 Feb 2016 Named protein variant G6PD SANTIAGO DE CUBA 16 Feb 2016 Named protein variant G6PD SAPPORO-LIKE 16 Feb 2016 Named protein variant G6PD SASSARI 16 Feb 2016 Named protein variant G6PD SEATTLE-LIKE 16 Feb 2016 Named protein variant G6PD SERRES 16 Feb 2016 Named protein variant G6PD SPLIT 16 Feb 2016 Named protein variant G6PD SPRINGFIELD 16 Feb 2016 Named protein variant G6PD SUNDERLAND 16 Feb 2016 Named protein variant G6PD TAIWAN-HAKKA 16 Feb 2016 Named protein variant G6PD TAIWAN-HAKKA 2 16 Feb 2016 Named protein variant G6PD TOMAH 16 Feb 2016 Named protein variant G6PD VARIANTS, MOLECULAR DEFECT UNKNOWN 16 Feb 2016 Named protein variant G6PD VARNSDORF 16 Feb 2016 Named protein variant G6PD VIANGCHAN 16 Feb 2016 Named protein variant G6PD WALTER REED 16 Feb 2016 Named protein variant G6PD ZURICH 16 Feb 2016 Named protein variant GABRA6-Related Disorder 13 Oct 2017 Disease GABRG2-Related Disorder 13 Oct 2017 Disease Gabriele de Vries syndrome MONDO C4479652 MONDO:0044738 617557 22 Apr 2020 Disease Gait apraxia Human Phenotype Ontology C1510417 HP:0010521 16 Feb 2016 Finding Gait ataxia Human Phenotype Ontology C0751837 HP:0002066 16 Feb 2016 Finding gait difficulties, swallowing difficulties, autonomic dysfunction, dysarthria, sleep apnea 23 Jan 2020 Finding Gait disturbance Human Phenotype Ontology C0575081 HP:0001288 16 Feb 2016 Finding Gait imbalance Human Phenotype Ontology C1836150 HP:0002141 16 Feb 2016 Finding Gait instability, worse in the dark Human Phenotype Ontology C1837016 HP:0006962 16 Feb 2016 Finding Galactokinase deficiency with cataracts 26 Jun 2019 Disease Galactorrhea Human Phenotype Ontology C3665358 HP:0100829 230300 16 Feb 2016 Disease Galactose epimerase deficiency, severe NCBI curation C4017048 16 Feb 2016 Disease Galactosemia NCBI curation C0016952 16 Feb 2016 Disease GALACTOSEMIA IV OMIM CN280928 618881 618881 16 May 2020 Disease Galactosialidosis, adult NCBI curation C4017293 16 Feb 2016 Disease Galactosialidosis, early infantile NCBI curation C4017294 16 Feb 2016 Disease Galactosialidosis, late infantile NCBI curation C4017292 16 Feb 2016 Disease Galactosuria Human Phenotype Ontology C0268157 HP:0012023 16 Feb 2016 Finding Galactosylceramide beta-galactosidase deficiency C0023521 245200 16 Feb 2016 Disease Galantamine Response CN282555 17 Jun 2020 Pharmacological response Gall bladder cancer 16 Feb 2016 Disease Gall bladder carcinoma in situ MONDO MONDO:0000373 17 Apr 2020 Disease Gallbladder adenocarcinoma MONDO C0279651 MONDO:0006215 17 Apr 2020 Disease Gallbladder adenoma MONDO C0238137 MONDO:0006216 17 Apr 2020 Disease Gallbladder adenosquamous carcinoma MONDO C1333741 MONDO:0006217 17 Apr 2020 Disease Gallbladder angiosarcoma MONDO C1333742 MONDO:0003026 17 Apr 2020 Disease Gallbladder biliary intraepithelial neoplasia MONDO C1708174 MONDO:0006218 17 Apr 2020 Disease Gallbladder cancer MONDO C0153452 MONDO:0005411 17 Apr 2020 Disease Gallbladder disease OMIM phenotypic series C0016977 PS600803 11 Jan 2020 Disease Gallbladder disease 1 NCBI curation C2609268 600803 11 Jan 2020 Disease Gallbladder disease 2 NCBI curation C1835925 609918 16 Feb 2016 Disease Gallbladder disease 3 NCBI curation C1835924 609919 16 Feb 2016 Disease Gallbladder disease 4 NCBI curation C1969115 611465 16 Feb 2016 Disease Gallbladder dysfunction Human Phenotype Ontology C0232769 HP:0005609 16 Feb 2016 Finding Gallbladder dyskinesia Human Phenotype Ontology C1449631 HP:0012442 16 Feb 2016 Finding Gallbladder leiomyoma MONDO C1333745 MONDO:0003297 17 Apr 2020 Disease Gallbladder leiomyosarcoma MONDO C1333746 MONDO:0003364 17 Apr 2020 Disease Gallbladder lipoma MONDO C1333747 MONDO:0000972 17 Apr 2020 Disease Gallbladder lymphoma MONDO C1333748 MONDO:0004474 17 Apr 2020 Disease Gallbladder melanoma MONDO C1333749 MONDO:0004484 17 Apr 2020 Disease Gallbladder mucinous adenocarcinoma MONDO C1333750 MONDO:0004067 17 Apr 2020 Disease Gallbladder neuroendocrine neoplasm MONDO C3273115 MONDO:0024502 17 Apr 2020 Disease Gallbladder papillary neoplasm MONDO C1333754 MONDO:0002518 17 Apr 2020 Disease Gallbladder papillary neoplasm with an associated invasive carcinoma MONDO C1333753 MONDO:0004148 17 Apr 2020 Disease Gallbladder perforation Human Phenotype Ontology C0156215 HP:0030154 16 Feb 2016 Finding Gallbladder pleomorphic giant cell adenocarcinoma MONDO MONDO:0004149 17 Apr 2020 Disease Gallbladder rhabdomyosarcoma MONDO C1333756 MONDO:0002856 17 Apr 2020 Disease Gallbladder sarcoma MONDO C1333757 MONDO:0002857 17 Apr 2020 Disease Gallbladder signet ring cell adenocarcinoma MONDO C1333758 MONDO:0002667 17 Apr 2020 Disease Gallbladder small cell neuroendocrine carcinoma MONDO C1333759 MONDO:0006219 17 Apr 2020 Disease Gallbladder squamous cell carcinoma MONDO C0279658 MONDO:0006220 17 Apr 2020 Disease Galloway-Mowat syndrome OMIM phenotypic series C0795949 PS251300 24 Jul 2018 Disease Galloway-Mowat syndrome 1 NCBI curation C4551772 251300 24 Jul 2018 Disease GALLOWAY-MOWAT SYNDROME 2, X-LINKED OMIM C4538784 301006 301006 29 Oct 2017 Disease GALLOWAY-MOWAT SYNDROME 3 OMIM C4540266 617729 617729 29 Oct 2017 Disease GALLOWAY-MOWAT SYNDROME 4 OMIM C4540270 617730 617730 29 Oct 2017 Disease GALLOWAY-MOWAT SYNDROME 5 OMIM C4540274 617731 617731 29 Oct 2017 Disease GALLOWAY-MOWAT SYNDROME 6 OMIM C5193043 618347 618347 10 Mar 2019 Disease GALLOWAY-MOWAT SYNDROME 7 OMIM C5193044 618348 618348 13 Mar 2019 Disease GALLOWAY-MOWAT SYNDROME 8 OMIM C5193045 618349 618349 13 Mar 2019 Disease GALT POLYMORPHISM 16 Feb 2016 Disease GALT POLYMORPHISM (DUARTE, D2) 16 Feb 2016 Disease GALT POLYMORPHISM (LOS ANGELES, D1) 16 Feb 2016 Disease Gambling, pathologic NCBI curation C0030662 606349 16 Feb 2016 Disease Gamma glutamyltransferase, plasma level of, quantitative trait locus 1 NCBI curation C2676495 612365 16 Feb 2016 Disease Gamma glutamyltransferase, plasma level of, quantitative trait locus 2 NCBI curation C2676494 612366 16 Feb 2016 Disease Gamma heavy chain disease (clinical) C0018854 16 Feb 2016 Disease Gamma-a-globulin, defect in assembly of NCBI curation C1850934 137050 16 Feb 2016 Disease Gamma-amino butyric acid metabolism disorder MONDO MONDO:0000698 17 Apr 2020 Disease Gamma-aminobutyric acid transaminase deficiency C0342708 613163 16 Feb 2016 Disease Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to NCBI curation C1856603 230450 16 Feb 2016 Disease gamma-Glutamyltransferase deficiency C0268524 231950 16 Feb 2016 Disease Gangliocytoma CN263940 16 Feb 2016 Disease Ganglioglioma NCBI curation C0206716 15 Mar 2019 Disease Ganglion or cyst of synovium/tendon/bursa MONDO MONDO:0004874 17 Apr 2020 Disease Ganglioneuroblastoma Human Phenotype Ontology C0206718 HP:0006747 16 Feb 2016 Finding Ganglioneuroma Human Phenotype Ontology C0017075 HP:0003005 16 Feb 2016 Finding Ganglioneuromatosis Human Phenotype Ontology C0334595 HP:0025151 02 Apr 2017 Finding Ganglioneuromatosis of the alimentary tract NCBI curation 16 Feb 2016 Disease Ganglioside sialidase deficiency CN716584 27 Dec 2017 Disease Gangliosidosis MONDO C0017083 MONDO:0017719 17 Apr 2020 Disease Gangliosidosis, generalized gm1, late-infantile type NCBI curation C1968746 16 Feb 2016 Disease GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I, WITH CARDIAC INVOLVEMENT 16 Feb 2016 Disease Gangrene Human Phenotype Ontology C0017086 HP:0100758 16 Feb 2016 Finding Gardner Morrison Abbot syndrome 16 Feb 2016 Disease Gardner syndrome NCBI curation C0017097 16 Feb 2016 Disease Garret-Tripp syndrome MONDO C2930965 MONDO:0023212 22 Apr 2020 Disease GARS-Associated Axonal Neuropathy CN118836 16 Feb 2016 Disease GARS-associated growth retardation and developmental delay 04 Aug 2017 Disease Gas bloat syndrome C2930966 16 Feb 2016 Disease Gas gangrene MONDO C0017105 MONDO:0005767 04 Jun 2020 Infectious disease Gasserian ganglion meningioma MONDO C1333760 MONDO:0004313 17 Apr 2020 Disease Gastric adenocarcinoma and proximal polyposis of the stomach MONDO C4749917 MONDO:0017790 17 Apr 2020 Disease Gastric adenoma MONDO C0149826 MONDO:0006221 17 Apr 2020 Disease Gastric adenosquamous carcinoma MONDO C1333761 MONDO:0006034 17 Apr 2020 Disease Gastric arteriovenous malformation Human Phenotype Ontology C0744282 HP:0031341 04 Apr 2018 Finding Gastric body carcinoma MONDO C0345804 MONDO:0003972 17 Apr 2020 Disease Gastric cancer susceptibility after h. pylori infection NCBI curation 16 Feb 2016 Disease Gastric cancer, familial diffuse, and cleft lip with or without cleft palate NCBI curation C3149287 16 Feb 2016 Disease Gastric cancer, intestinal NCBI curation 16 Feb 2016 Disease Gastric carcinoma MONDO MONDO:0004950 17 Apr 2020 Disease Gastric cardia adenocarcinoma MONDO C1333762 MONDO:0003835 17 Apr 2020 Disease Gastric cardia adenocarcinoma, susceptibility to NCBI curation 16 Feb 2016 Disease Gastric cardia carcinoma MONDO C1333763 MONDO:0003834 17 Apr 2020 Disease Gastric choriocarcinoma MONDO C2987398 MONDO:0006222 17 Apr 2020 Disease Gastric diffuse large B-cell lymphoma MONDO C1335483 MONDO:0006223 17 Apr 2020 Disease Gastric dilatation MONDO C0038353 MONDO:0002569 17 Apr 2020 Disease Gastric diverticulum Human Phenotype Ontology C0038355 HP:0100808 16 Feb 2016 Finding Gastric duplication Human Phenotype Ontology C4021201 HP:0011139 16 Feb 2016 Finding Gastric enterochromaffin cell serotonin-producing neuroendocrine tumor MONDO C3274137 MONDO:0024639 17 Apr 2020 Disease Gastric fundus carcinoma MONDO C0345799 MONDO:0003970 17 Apr 2020 Disease Gastric gastrin-producing neuroendocrine tumor MONDO C1333767 MONDO:0003524 17 Apr 2020 Disease Gastric hamartomatous polyp MONDO C0341225 MONDO:0006224 17 Apr 2020 Disease Gastric hemangioma MONDO C1333770 MONDO:0002414 17 Apr 2020 Disease Gastric hypertrophy Human Phenotype Ontology C1834341 HP:0005207 16 Feb 2016 Finding Gastric intestinal type adenocarcinoma MONDO C0279633 MONDO:0005037 17 Apr 2020 Disease Gastric juice peptides NCBI curation C1850901 137220 16 Feb 2016 Disease Gastric leiomyoma MONDO C0238440 MONDO:0000938 17 Apr 2020 Disease Gastric leiomyosarcoma Human Phenotype Ontology C0744295 HP:0031025 04 Apr 2018 Finding Gastric linitis plastica MONDO CN204677 MONDO:0018184 17 Apr 2020 Disease Gastric liposarcoma MONDO C1333778 MONDO:0003592 17 Apr 2020 Disease Gastric lymphoma Human Phenotype Ontology C1850900 HP:0045038 137245 16 Feb 2016 Finding Gastric mantle cell lymphoma MONDO C1333780 MONDO:0006225 17 Apr 2020 Disease Gastric mucosa-associated lymphoid tissue lymphoma MONDO C1333782 MONDO:0006226 17 Apr 2020 Disease Gastric mucosal hypertrophy MONDO C2936660 MONDO:0007652 137280 17 Apr 2020 Disease Gastric neuroendocrine tumor G1 MONDO C0349529 MONDO:0006227 17 Apr 2020 Disease Gastric neuroendocrine tumor G2 MONDO C3272407 MONDO:0024642 17 Apr 2020 Disease Gastric neuroendocrine tumor, well differentiated, low or intermediate grade MONDO C3272399 MONDO:0015062 17 Apr 2020 Disease Gastric non-hodgkin lymphoma MONDO C1333784 MONDO:0042493 17 Apr 2020 Disease Gastric papillary adenocarcinoma MONDO C1333785 MONDO:0006228 17 Apr 2020 Disease Gastric polyposis NCBI curation C0236048 175020 16 Feb 2016 Disease Gastric pylorus carcinoma MONDO C1333787 MONDO:0003971 17 Apr 2020 Disease Gastric small cell neuroendocrine carcinoma MONDO C1333788 MONDO:0006229 17 Apr 2020 Disease Gastric sneezing NCBI curation C1850930 137130 16 Feb 2016 Disease Gastric squamous cell carcinoma MONDO C1333789 MONDO:0006230 17 Apr 2020 Disease Gastric teratoma MONDO C1333790 MONDO:0003513 17 Apr 2020 Disease Gastric tubular adenocarcinoma MONDO C1333791 MONDO:0006035 17 Apr 2020 Disease Gastric ulcer Human Phenotype Ontology C0038358 HP:0002592 16 Feb 2016 Finding Gastric varix Human Phenotype Ontology C0017145 HP:0030169 16 Feb 2016 Finding Gastric volvulus, intrathoracic NCBI curation C1850902 137210 16 Feb 2016 Disease Gastrin secretion abnormality MONDO C0000774 MONDO:0001770 17 Apr 2020 Disease Gastrin-producing neuroendocrine tumor MONDO C0017150 MONDO:0003523 17 Apr 2020 Disease Gastritis Human Phenotype Ontology C0017152 HP:0005263 16 Feb 2016 Finding Gastritis (disease) MONDO MONDO:0004966 17 Apr 2020 Disease Gastro-enteropancreatic neuroendocrine tumor 16 Feb 2016 Disease gastro-esophageal reflux disease with esophagitis 05 Sep 2019 Finding gastro-esophageal reflux disease withoutut esophagitis 05 Sep 2019 Finding Gastrocutaneous syndrome C1850899 137270 16 Feb 2016 Disease Gastroduodenal Crohn disease MONDO MONDO:0000710 17 Apr 2020 Disease Gastroduodenal malformation MONDO CN227725 MONDO:0019998 17 Apr 2020 Disease Gastroduodenitis MONDO C0267166 MONDO:0004628 17 Apr 2020 Disease Gastroenteric neuroendocrine neoplasm MONDO CN261339 MONDO:0028618 17 Apr 2020 Disease gastroenteritis C0017160 18 Jan 2019 Finding Gastroenteritis, transmissible, of swine MONDO C0017162 MONDO:0025420 17 Apr 2020 Disease Gastroenterology CN282556 17 Jun 2020 Pharmacological response Gastroesophageal disease MONDO CN197468 MONDO:0015111 17 Apr 2020 Disease Gastroesophageal junction adenocarcinoma MONDO C1332166 MONDO:0003219 17 Apr 2020 Disease Gastroesophageal reflux Human Phenotype Ontology C4317146 HP:0002020 16 Feb 2016 Finding Gastroesophageal reflux disease C0017168 109350 16 Feb 2016 Disease Gastrointestinal (adult onset) CN232466 16 Feb 2016 Finding Gastrointestinal (child onset) CN232540 16 Feb 2016 Finding Gastrointestinal allergy MONDO MONDO:0000777 17 Apr 2020 Disease Gastrointestinal and Colorectal Cancer CN879743 21 Mar 2018 Disease Gastrointestinal angiodysplasia Human Phenotype Ontology C0854242 HP:0000471 16 Feb 2016 Finding Gastrointestinal anthrax MONDO C0152945 MONDO:0001701 04 Jun 2020 Infectious disease Gastrointestinal arteriovenous malformation Human Phenotype Ontology C0744321 HP:0002629 16 Feb 2016 Finding Gastrointestinal atresia Human Phenotype Ontology C4025697 HP:0002589 16 Feb 2016 Finding Gastrointestinal carcinoma Human Phenotype Ontology C0151544 HP:0002672 16 Feb 2016 Finding Gastrointestinal duplication Human Phenotype Ontology C0266019 HP:0011140 16 Feb 2016 Finding Gastrointestinal dysmotility Human Phenotype Ontology C1836923 HP:0002579 16 Feb 2016 Finding Gastrointestinal hemorrhage Human Phenotype Ontology C0017181 HP:0002239 16 Feb 2016 Finding Gastrointestinal infarctions Human Phenotype Ontology C3152231 HP:0005244 16 Feb 2016 Finding Gastrointestinal inflammation Human Phenotype Ontology C1535950 HP:0004386 16 Feb 2016 Finding Gastrointestinal lymphoma MONDO C0740372 MONDO:0004699 17 Apr 2020 Disease Gastrointestinal malrotation C3808410 16 Feb 2016 Finding Gastrointestinal mucositis MONDO C0521585 MONDO:0000888 17 Apr 2020 Disease Gastrointestinal obstruction Human Phenotype Ontology C0236124 HP:0004796 16 Feb 2016 Finding Gastrointestinal phenotype CN230740 16 Feb 2016 Finding Gastrointestinal polyposis CN221591 16 Feb 2016 Disease Gastrointestinal stromal tumor MONDO C0238198 MONDO:0011719 606764 17 Apr 2020 Disease Gastrointestinal stromal tumor Human Phenotype Ontology C0238198 HP:0100723 606764 17 Apr 2020 Disease Gastrointestinal stromal tumor of small intestine NCBI curation C1335996 15 Nov 2018 Disease Gastrointestinal stromal tumor, familial NCBI curation C2674636 16 Feb 2016 Disease Gastrointestinal telangiectasia Human Phenotype Ontology C1619711 HP:0002604 16 Feb 2016 Finding Gastrointestinal tuberculosis MONDO C0041312 MONDO:0005768 04 Jun 2020 Infectious disease Gastrointestinal tularemia MONDO C0494039 MONDO:0001916 04 Jun 2020 Infectious disease GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS OMIM C3888207 618372 618372 31 Mar 2019 Disease Gastrojejunal tube feeding in infancy Human Phenotype Ontology C4280681 HP:0030884 02 Apr 2017 Finding Gastrojejunal ulcer MONDO MONDO:0001155 17 Apr 2020 Disease Gastroparesis Human Phenotype Ontology C0152020 HP:0002578 16 Feb 2016 Finding Gastroschisis Human Phenotype Ontology C0265706 HP:0001543 230750 16 Feb 2016 Disease Gastrostomy C0546256 16 Feb 2016 Finding Gastrostomy tube 23 Jan 2020 Finding Gastrostomy tube feeding in infancy Human Phenotype Ontology C4023342 HP:0011471 16 Feb 2016 Finding GATA-1-related thrombocytopenia with dyserythropoiesis NCBI curation C3550789 300367 16 Feb 2016 Disease GATA2 deficiency with susceptibility to MDS/AML MONDO MONDO:0042982 17 Apr 2020 Disease GATA4-related disorders CN860321 13 Mar 2018 Disease GATAD2B-Related Disorder 11 Oct 2018 Disease GATAD2B-related intellectual disability syndrome 21 May 2020 Disease Gaucher disease C0017205 16 Feb 2016 Disease Gaucher disease type 3A NCBI curation C1856491 16 Feb 2016 Disease Gaucher disease type 3B NCBI curation C1856492 16 Feb 2016 Disease Gaucher disease type 3C NCBI curation C1856476 231005 16 Feb 2016 Disease Gaucher disease, atypical, due to saposin C deficiency NCBI curation C1864651 610539 16 Feb 2016 Disease Gaucher disease, Norrbottnian type NCBI curation C1856493 16 Feb 2016 Disease Gaucher disease, perinatal lethal NCBI curation C1842704 608013 16 Feb 2016 Disease Gaucher ichthyosis restrictive dermopathy 16 Feb 2016 Disease Gaucher's disease, type 1 NCBI curation C1961835 230800 16 Feb 2016 Disease Gaucher-like disease 16 Feb 2016 Disease Gay Feinmesser Cohen syndrome 16 Feb 2016 Disease Gaze palsy, familial horizontal, with progressive scoliosis OMIM phenotypic series C4760875 PS607313 02 Jan 2020 Disease Gaze palsy, familial horizontal, with progressive scoliosis 1 NCBI curation C4551964 607313 02 Jan 2020 Disease Gaze palsy, familial horizontal, with progressive scoliosis, 2 MONDO C4479640 MONDO:0054602 617542 17 Apr 2020 Disease Gaze-evoked horizontal nystagmus Human Phenotype Ontology C1853394 HP:0007979 16 Feb 2016 Finding Gaze-evoked nystagmus Human Phenotype Ontology C0271390 HP:0000640 16 Feb 2016 Finding GBE1-Related Disorders CN239402 02 Dec 2016 Disease Gbm NCBI curation 16 Feb 2016 Disease GC1/GC2 POLYMORPHISM 16 Feb 2016 Disease GCGR-related hyperglucagonemia MONDO C4763635 MONDO:0018582 17 Apr 2020 Disease Gcr deficiency NCBI curation 16 Feb 2016 Disease GDAP1-Related Disorders 23 May 2019 Disease GDF11-associated multiple congenital anomalies and ID 27 Apr 2018 Finding GDF5 (CDMP1)-related disorder NCBI curation CN169990 16 Feb 2016 Disease Gefitinib response CN077987 16 Feb 2016 Pharmacological response gefitinib response - Efficacy PharmGKB CN236558 981475986 18 May 2016 Pharmacological response Gefs+, type 5, susceptibility to NCBI curation 16 Feb 2016 Disease Gefs+5, susceptibility to NCBI curation 16 Feb 2016 Disease Gelastic seizures Human Phenotype Ontology C0270820 HP:0010821 16 Feb 2016 Finding Gelatinous ascites 16 Feb 2016 Disease Geleophysic dysplasia OMIM phenotypic series C3489726 PS231050 16 Feb 2016 Disease Geleophysic dysplasia 1 NCBI curation C3278147 231050 16 Feb 2016 Disease Geleophysic dysplasia 2 NCBI curation C3280054 614185 16 Feb 2016 Disease GELEOPHYSIC DYSPLASIA 3 OMIM C4540511 617809 617809 15 Dec 2017 Disease Gemcitabine response NCBI curation CN188728 16 Feb 2016 Pharmacological response gemcitabine response - Other PharmGKB CN236594 1184472764 18 May 2016 Pharmacological response Gemignani syndrome C2931587 16 Feb 2016 Disease Gemination Human Phenotype Ontology C0266033 HP:0011091 16 Feb 2016 Finding Gemistocytic astrocytoma MONDO C0334581 MONDO:0016689 17 Apr 2020 Disease Gender dysphoria MONDO C0686346 MONDO:0001153 17 Apr 2020 Disease Gender identity disorder MONDO MONDO:0001500 17 Apr 2020 Disease Gene expression, variation in, quantitative trait locus on chromosome 14 NCBI curation C1837209 608875 16 Feb 2016 Disease Gene expression, variation in, quantitative trait locus on chromosome 20 NCBI curation C1837208 608878 16 Feb 2016 Disease gene sequencing C1845837 02 Nov 2018 Disease General Interest 12 Jul 2018 Finding General tumor grading characteristic MONDO MONDO:0024489 17 Apr 2020 Disease Generalised epilepsy MONDO MONDO:0005579 07 Jun 2020 Disease Generalized abnormality of skin Human Phenotype Ontology C4021157 HP:0011354 16 Feb 2016 Finding Generalized aminoaciduria Human Phenotype Ontology C1847868 HP:0002909 16 Feb 2016 Finding Generalized amyloid deposition Human Phenotype Ontology C1862968 HP:0003216 16 Feb 2016 Finding Generalized amyotrophy Human Phenotype Ontology C1389113 HP:0003700 16 Feb 2016 Finding Generalized anhidrosis Human Phenotype Ontology C4024869 HP:0007459 16 Feb 2016 Finding Generalized Anxiety Disorder C0270549 18 Jan 2019 Finding Generalized arterial calcification Human Phenotype Ontology C4025269 HP:0004940 16 Feb 2016 Finding Generalized arterial calcification of infancy OMIM phenotypic series C1859727 PS208000 22 Dec 2019 Disease Generalized arterial calcification of infancy 2 NCBI curation C3276161 614473 16 Feb 2016 Disease Generalized arterial tortuosity Human Phenotype Ontology C1836651 HP:0004955 16 Feb 2016 Finding Generalized atherosclerosis MONDO C0017327 MONDO:0002275 17 Apr 2020 Disease Generalized bone demineralization Human Phenotype Ontology C1833326 HP:0006462 16 Feb 2016 Finding Generalized bronze hyperpigmentation Human Phenotype Ontology C4024842 HP:0007574 16 Feb 2016 Finding Generalized bulbospinal muscular atrophy MONDO CN261342 MONDO:0016116 17 Apr 2020 Disease Generalized cerebral atrophy/hypoplasia Human Phenotype Ontology C4024945 HP:0007058 16 Feb 2016 Finding Generalized clonic seizures Human Phenotype Ontology C4023499 HP:0011169 16 Feb 2016 Finding generalized convulsive epilepsy 05 Sep 2019 Finding generalized diffuse weakness 20 Jun 2019 Finding Generalized distal tubular acidosis Human Phenotype Ontology C4025275 HP:0004916 16 Feb 2016 Finding Generalized dominant dystrophic epidermolysis bullosa NCBI curation C0432322 131750 16 Feb 2016 Disease Generalized dystonia Human Phenotype Ontology C1848954 HP:0007325 16 Feb 2016 Finding Generalized edema Human Phenotype Ontology C1850534 HP:0007430 16 Feb 2016 Finding Generalized epilepsy NCBI curation C0014548 16 Feb 2016 Disease generalized epilepsy with atypical absence and tonic/myoclonic seizures CN225583 16 Feb 2016 Finding generalized epilepsy with atypical absence seizures CN225584 16 Feb 2016 Finding Generalized epilepsy with febrile seizures plus NCBI curation C3502809 16 Feb 2016 Disease Generalized epilepsy with febrile seizures plus 3 NCBI curation C1858674 16 Feb 2016 Disease Generalized epilepsy with febrile seizures plus type 5 NCBI curation C3501643 16 Feb 2016 Disease Generalized epilepsy with febrile seizures plus, type 1 NCBI curation C1858672 604233 16 Feb 2016 Disease GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10 OMIM C5193120 618482 618482 27 Jun 2019 Disease Generalized epilepsy with febrile seizures plus, type 2 NCBI curation C1858673 604403 16 Feb 2016 Disease Generalized epilepsy with febrile seizures plus, type 4 NCBI curation C1853345 609800 16 Feb 2016 Disease Generalized epilepsy with febrile seizures plus, type 6 NCBI curation C2677078 612279 16 Feb 2016 Disease Generalized epilepsy with febrile seizures plus, type 7 NCBI curation C2751778 613863 16 Feb 2016 Disease Generalized epilepsy with febrile seizures plus, type 8 NCBI curation C3151191 613828 16 Feb 2016 Disease Generalized epilepsy with febrile seizures plus, type 9 NCBI curation C4015395 616172 16 Feb 2016 Disease Generalized eruptive histiocytosis MONDO C0347404 MONDO:0015532 17 Apr 2020 Disease Generalized eruptive keratoacanthoma MONDO C0345985 MONDO:0018471 17 Apr 2020 Disease Generalized galactose epimerase deficiency MONDO C0574089 MONDO:0017692 17 Apr 2020 Disease Generalized hirsutism Human Phenotype Ontology C1849211 HP:0002230 16 Feb 2016 Finding Generalized hyperkeratosis Human Phenotype Ontology C1969913 HP:0005595 16 Feb 2016 Finding Generalized hyperpigmentation Human Phenotype Ontology C4024878 HP:0007440 16 Feb 2016 Finding Generalized hyperreflexia Human Phenotype Ontology C4024949 HP:0007034 16 Feb 2016 Finding Generalized hypertrichosis Human Phenotype Ontology C3277940 HP:0004554 16 Feb 2016 Finding Generalized hypopigmentation Human Phenotype Ontology C1849923 HP:0007513 16 Feb 2016 Finding Generalized hypopigmentation of hair Human Phenotype Ontology C4023400 HP:0011358 16 Feb 2016 Finding Generalized hypoplasia of dental enamel Human Phenotype Ontology C4025070 HP:0006282 16 Feb 2016 Finding Generalized hypotonia Human Phenotype Ontology C1858120 HP:0001290 16 Feb 2016 Finding Generalized hypotonia due to defect at the neuromuscular junction Human Phenotype Ontology C1853950 HP:0003397 16 Feb 2016 Finding Generalized hypotrichosis Human Phenotype Ontology C4021653 HP:0004528 16 Feb 2016 Finding Generalized ichthyosis Human Phenotype Ontology C3552528 HP:0007503 16 Feb 2016 Finding generalized idiopathic epilepsy epileptic syndromes 05 Sep 2019 Finding Generalized isolated dystonia MONDO CN229149 MONDO:0018303 17 Apr 2020 Disease Generalized joint laxity Human Phenotype Ontology C1836308 HP:0002761 16 Feb 2016 Finding Generalized junctional epidermolysis bullosa non-Herlitz type MONDO CN205945 MONDO:0019307 17 Apr 2020 Disease Generalized keratosis follicularis Human Phenotype Ontology C4024879 HP:0007439 16 Feb 2016 Finding Generalized limb muscle atrophy Human Phenotype Ontology C1838114 HP:0009055 16 Feb 2016 Finding Generalized lipodystrophy Human Phenotype Ontology C4317112 HP:0009064 16 Feb 2016 Finding Generalized lymphadenopathy Human Phenotype Ontology C0476486 HP:0008940 16 Feb 2016 Finding Generalized microdontia Human Phenotype Ontology C4025065 HP:0006311 16 Feb 2016 Finding Generalized morning stiffness Human Phenotype Ontology C4025238 HP:0005197 16 Feb 2016 Finding Generalized muscle hypertrophy Human Phenotype Ontology C3805639 HP:0003720 16 Feb 2016 Finding Generalized muscle weakness Human Phenotype Ontology C0746674 HP:0003324 16 Feb 2016 Finding Generalized muscular appearance from birth Human Phenotype Ontology C1837799 HP:0003716 16 Feb 2016 Finding Generalized myoclonic jerks in series 01 Nov 2018 Finding Generalized myoclonic seizures Human Phenotype Ontology C4021759 HP:0002123 16 Feb 2016 Finding Generalized neonatal hypotonia Human Phenotype Ontology C1845123 HP:0008935 16 Feb 2016 Finding generalized non-convulsive epilepsy 05 Sep 2019 Finding Generalized opacification of the cornea Human Phenotype Ontology C4021147 HP:0011494 16 Feb 2016 Finding Generalized osteoporosis Human Phenotype Ontology C4551680 HP:0040160 16 Feb 2016 Finding Generalized osteoporosis with pathologic fractures C3805887 16 Feb 2016 Finding Generalized osteosclerosis Human Phenotype Ontology C1843331 HP:0005789 16 Feb 2016 Finding Generalized papillary lesions Human Phenotype Ontology C4024865 HP:0007482 16 Feb 2016 Finding Generalized peeling skin syndrome MONDO C4305156 MONDO:0010033 17 Apr 2020 Disease Generalized peeling skin syndrome type C MONDO CN202307 MONDO:0016993 17 Apr 2020 Disease Generalized periodontitis Human Phenotype Ontology C4023560 HP:0011058 16 Feb 2016 Finding Generalized resistance to thyroid hormone C4722330 16 Feb 2016 Disease Generalized reticulate brown pigmentation Human Phenotype Ontology C4024836 HP:0007599 16 Feb 2016 Finding Generalized seborrheic dermatitis Human Phenotype Ontology C4024844 HP:0007569 16 Feb 2016 Finding Generalized seizures Human Phenotype Ontology C0234533 HP:0002197 16 Feb 2016 Finding generalized tonic clonic seizure 13 Feb 2020 Finding Generalized tonic seizures Human Phenotype Ontology C1836508 HP:0010818 16 Feb 2016 Finding Generalized tonic-clonic seizures Human Phenotype Ontology C0494475 HP:0002069 16 Feb 2016 Finding Generalized tonic-clonic seizures on awakening Human Phenotype Ontology C1847165 HP:0007193 16 Feb 2016 Finding Generalized tonic-clonic seizures with focal onset Human Phenotype Ontology C0877017 HP:0007334 02 Apr 2017 Finding Generalized tonic-clonic seizures without focal onset Human Phenotype Ontology C4476643 HP:0025190 02 Apr 2017 Finding Generalized tonic-clonic sizures, five 23 Jan 2020 Finding Generalized torsion dystonia 16 Feb 2016 Disease Generalized weakness of limb muscles Human Phenotype Ontology C4024605 HP:0009028 16 Feb 2016 Finding Genetic alopecia MONDO CN776937 MONDO:0021034 17 Apr 2020 Disease Genetic biliary tract disease MONDO CN199642 MONDO:0015509 17 Apr 2020 Disease Genetic cardiac anomaly MONDO CN227095 MONDO:0017131 17 Apr 2020 Disease Genetic cardiac malformation MONDO CN776939 MONDO:0018797 17 Apr 2020 Disease Genetic cardiac rhythm disease MONDO CN197467 MONDO:0015110 17 Apr 2020 Disease Genetic central nervous system and retinal vascular disease MONDO CN200550 MONDO:0015953 17 Apr 2020 Disease Genetic cerebral small vessel disease MONDO CN776941 MONDO:0018787 17 Apr 2020 Disease Genetic Counseling 25 Nov 2019 Finding Genetic dementia MONDO CN228962 MONDO:0015547 17 Apr 2020 Disease Genetic endocrine growth disease MONDO CN237424 MONDO:0015514 17 Apr 2020 Disease Genetic epidermal appendage anomaly MONDO CN226794 MONDO:0021026 17 Apr 2020 Disease Genetic gastro-esophageal disease MONDO CN199993 MONDO:0015617 17 Apr 2020 Disease Genetic glomerular disease CN262425 15 Oct 2019 Disease Genetic hair anomaly MONDO CN226795 MONDO:0021027 17 Apr 2020 Disease Genetic head and neck malformation MONDO CN226812 MONDO:0015961 17 Apr 2020 Disease Genetic hyperaldosteronism CN262426 15 Oct 2019 Disease Genetic hyperferritinemia without iron overload MONDO C4707880 MONDO:0016788 17 Apr 2020 Disease Genetic hyperparathyroidism MONDO CN229033 MONDO:0016166 17 Apr 2020 Disease Genetic hypertension C0598428 17 Oct 2017 Disease Genetic hypoparathyroidism MONDO CN229032 MONDO:0016165 17 Apr 2020 Disease Genetic infertility MONDO CN229075 MONDO:0017143 17 Apr 2020 Disease Genetic interstitial lung disease CN262422 15 Oct 2019 Disease Genetic intestinal polyposis MONDO C2713443 MONDO:0018188 17 Apr 2020 Disease Genetic keratinization disorder associated with ocular features MONDO MONDO:0020267 17 Apr 2020 Disease Genetic lethal multiple congenital anomalies/dysmorphic syndrome MONDO CN242183 MONDO:0043009 17 Apr 2020 Disease Genetic lipodystrophy C4511302 15 Oct 2019 Disease Genetic macular dystrophy MONDO C4682820 MONDO:0020242 17 Apr 2020 Disease Genetic motor neuron disease CN276758 24 Jul 2019 Disease Genetic multiple congenital anomalies/dysmorphic syndrome MONDO CN200555 MONDO:0043005 17 Apr 2020 Disease Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO CN204243 MONDO:0043008 17 Apr 2020 Disease Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome MONDO CN204242 MONDO:0043007 17 Apr 2020 Disease Genetic nail anomaly MONDO CN200544 MONDO:0021028 17 Apr 2020 Disease Genetic nervous system disorder MONDO CN205639 MONDO:0019117 17 Apr 2020 Disease Genetic neurodegenerative disease with dementia MONDO CN202589 MONDO:0021037 17 Apr 2020 Disease Genetic neuromuscular disease CN262430 15 Oct 2019 Disease Genetic non-acquired premature ovarian failure NCBI curation CN258378 10 May 2019 Disease Genetic non-syndromic obesity MONDO CN227751 MONDO:0020075 17 Apr 2020 Disease Genetic otorhinolaryngologic disease MONDO CN242186 MONDO:0018751 17 Apr 2020 Disease Genetic otorhinolaryngological malformation MONDO CN237565 MONDO:0018562 17 Apr 2020 Disease Genetic parenchymatous liver disease MONDO CN199641 MONDO:0015508 17 Apr 2020 Disease Genetic peripheral neuropathy MONDO CN229272 MONDO:0020127 17 Apr 2020 Disease Genetic photodermatosis MONDO CN229004 MONDO:0015951 17 Apr 2020 Disease Genetic porokeratosis Orphanet CN238511 ORPHA183444 23 Sep 2016 Disease Genetic predisposition NCBI curation C0314657 16 Feb 2016 Disease Genetic prion diseases NCBI curation C0162534 16 Feb 2016 Disease Genetic recurrent myoglobinuria MONDO C4274324 MONDO:0020504 17 Apr 2020 Disease Genetic reflex epilepsy 16 Feb 2016 Disease Genetic sebaceous gland anomaly MONDO CN226796 MONDO:0021029 17 Apr 2020 Disease Genetic skin disease MONDO MONDO:0024255 17 Apr 2020 Disease Genetic syndrome with a Dandy-Walker malformation as major feature CN274613 29 May 2019 Disease Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature MONDO CN202475 MONDO:0017122 17 Apr 2020 Disease Genetic syndromic Pierre Robin syndrome MONDO CN204685 MONDO:0018187 17 Apr 2020 Disease Genetic systemic or rheumatologic disease MONDO CN202531 MONDO:0017133 17 Apr 2020 Disease Genetic transient congenital hypothyroidism MONDO C4749351 MONDO:0044331 17 Apr 2020 Disease Genetic vascular anomaly MONDO CN226886 MONDO:0016229 17 Apr 2020 Disease Genetic vs non-genetic etiology MONDO MONDO:0021149 17 Apr 2020 Disease Geniculate ganglionitis MONDO C0017407 MONDO:0001873 17 Apr 2020 Disease Geniculate herpes zoster MONDO CN281779 MONDO:0005769 04 Jun 2020 Infectious disease Geniospasm Human Phenotype Ontology C1860972 HP:0012462 190100 28 May 2020 Disease Genital blistering Human Phenotype Ontology C3854369 HP:0031464 04 Apr 2018 Finding Genital dwarfism 16 Feb 2016 Disease Genital dwarfism, Turner type 16 Feb 2016 Disease Genital edema Human Phenotype Ontology C0151604 HP:0031188 04 Apr 2018 Finding Genital hernia Human Phenotype Ontology C4021962 HP:0100823 16 Feb 2016 Finding Genital herpes MONDO C0019342 MONDO:0005770 04 Jun 2020 Infectious disease Genital neoplasm Human Phenotype Ontology C0679347 HP:0010787 16 Feb 2016 Finding Genital tract atresia Human Phenotype Ontology C4025746 HP:0001827 16 Feb 2016 Finding Genital ulcers Human Phenotype Ontology C0151281 HP:0003249 16 Feb 2016 Finding Genito-palato-cardiac syndrome MONDO C1856466 MONDO:0009270 231060 22 Apr 2020 Disease Genitopatellar syndrome NCBI curation C1853566 606170 16 Feb 2016 Disease Genitourinary (adult onset) 13 Apr 2018 Finding Genitourinary (child onset) CN232541 16 Feb 2016 Finding GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME OMIM CN263373 618820 618820 21 Mar 2020 Disease Genitourinary tract anomalies NCBI curation C1844502 305690 16 Feb 2016 Disease Genochondromatosis C1300229 137360 16 Feb 2016 Disease Genochondromatosis type 2 MONDO C4511481 MONDO:0019680 17 Apr 2020 Disease Genodermatosis with ocular features MONDO MONDO:0020266 17 Apr 2020 Disease Genome Screening CN262928 04 Dec 2019 Disease Gentamicin response NCBI curation CN184225 16 Feb 2016 Pharmacological response gentamicin response - Toxicity/ADR PharmGKB 1444608367PA449753 06 Jul 2018 Pharmacological response Genu recurvatum Human Phenotype Ontology C0546964 HP:0002816 16 Feb 2016 Finding Genu valgum Human Phenotype Ontology C0576093 HP:0002857 16 Feb 2016 Finding Genu valgum, st. Helena familial MONDO C1842052 MONDO:0007654 137370 22 Apr 2020 Disease Genu varum Human Phenotype Ontology C0544755 HP:0002970 16 Feb 2016 Finding Geographic atrophy Human Phenotype Ontology C1536085 HP:0031609 04 Apr 2018 Finding Geographic tongue Human Phenotype Ontology C0017677 HP:0025252 02 Apr 2017 Disease Geographic tongue and fissured tongue NCBI curation C4540616 137400 16 Feb 2016 Disease Geophagia Human Phenotype Ontology C0232480 HP:0025062 02 Apr 2017 Finding Geotrichosis MONDO C0017455 MONDO:0005772 04 Jun 2020 Infectious disease Gerbode ventricular septal defect Human Phenotype Ontology C4023265 HP:0011621 16 Feb 2016 Finding gereralized epilepsy intractable withoutut status epilepticus 05 Sep 2019 Finding Germ cell and embryonal cancer MONDO MONDO:0002510 17 Apr 2020 Disease Germ cell neoplasia Human Phenotype Ontology C4021985 HP:0100728 16 Feb 2016 Finding Germ cell tumor NCBI curation C0205851 16 Feb 2016 Disease Germ cell tumor of the vulva MONDO MONDO:0020650 17 Apr 2020 Disease Germ cell tumor, nonseminomatous NCBI curation C1266158 16 Feb 2016 Disease Germinoma (disease) MONDO C0206660 MONDO:0002598 17 Apr 2020 Disease Germinomatous germ cell tumor MONDO C4054897 MONDO:0020580 17 Apr 2020 Disease Geroderma osteodysplastica C0432255 231070 16 Feb 2016 Disease Gershinibaruch Leibo syndrome 16 Feb 2016 Disease Gershoni-Baruch syndrome C1836007 609545 16 Feb 2016 Disease Gerstmann syndrome C0017494 16 Feb 2016 Disease Gerstmann-Straussler-Scheinker syndrome NCBI curation C0017495 137440 16 Feb 2016 Disease Gestational choriocarcinoma MONDO C0349557 MONDO:0020550 17 Apr 2020 Disease Gestational diabetes MONDO C0085207 MONDO:0005406 22 Apr 2020 Disease Gestational diabetes insipidus C2932666 16 Feb 2016 Disease Gestational diabetes mellitus uncontrolled C3532257 16 Feb 2016 Finding Gestational ovarian choriocarcinoma MONDO C1517538 MONDO:0004294 17 Apr 2020 Disease Gestational trophoblastic neoplasm MONDO C1135868 MONDO:0018944 17 Apr 2020 Disease Gestational trophoblastic neoplasms 16 Feb 2016 Disease Gestational uterine corpus choriocarcinoma MONDO MONDO:0004490 17 Apr 2020 Disease Ghosal hematodiaphyseal dysplasia MONDO C1856465 MONDO:0009274 231095 22 Apr 2020 Disease Ghosal hematodiaphyseal syndrome NCBI curation C4016444 16 Feb 2016 Disease Ghose-Sachdev-Kumar syndrome MONDO C2974016 MONDO:0023230 22 Apr 2020 Disease GHRELIN POLYMORPHISM 16 Feb 2016 Disease GI dysmotility CN234774 16 Feb 2016 Finding GI polyps CN244038 01 Jun 2017 Finding Giacheti syndrome NCBI curation C2752043 612917 16 Feb 2016 Disease Gianotti Crosti syndrome 16 Feb 2016 Disease Giant adenofibroma of the breast MONDO CN200476 MONDO:0015872 17 Apr 2020 Disease Giant axonal neuropathy OMIM phenotypic series C5200933 PS256850 05 Feb 2020 Disease Giant axonal neuropathy 1 NCBI curation C1850386 256850 06 Feb 2020 Disease Giant axonal neuropathy 2, autosomal dominant NCBI curation C4013360 610100 24 Aug 2016 Disease Giant cell glioblastoma MONDO C0334588 MONDO:0016682 17 Apr 2020 Disease Giant cell granuloma of mandible Human Phenotype Ontology C4021912 HP:0100955 16 Feb 2016 Finding Giant cell hepatitis Human Phenotype Ontology C0027613 HP:0200084 16 Feb 2016 Finding Giant cell myocarditis 16 Feb 2016 Disease Giant cell reparative granuloma MONDO C0162375 MONDO:0006770 17 Apr 2020 Disease Giant cell tumor MONDO C0017525 MONDO:0002171 17 Apr 2020 Disease Giant cell tumor of bone Human Phenotype Ontology C0206638 HP:0011847 16 Feb 2016 Finding Giant cell tumor of soft tissue MONDO C0334553 MONDO:0006232 17 Apr 2020 Disease Giant congenital nevi 16 Feb 2016 Disease Giant congenital nevus MONDO MONDO:0023235 17 Apr 2020 Disease Giant conjunctival papillae Human Phenotype Ontology C4476720 HP:0025350 02 Apr 2017 Finding Giant ganglionic hyperplasia 16 Feb 2016 Disease Giant hemangioma MONDO C1333817 MONDO:0003643 17 Apr 2020 Disease Giant mammary hamartoma C2931343 16 Feb 2016 Disease Giant melanosomes in melanocytes Human Phenotype Ontology C3806221 HP:0005592 16 Feb 2016 Finding Giant neutrophil leukocytes NCBI curation C1842039 137500 16 Feb 2016 Disease Giant papillary conjunctivitis C0009769 16 Feb 2016 Disease Giant platelet disorder, isolated CN258969 12 Jun 2019 Disease Giant platelets Human Phenotype Ontology C0333864 HP:0001902 16 Feb 2016 Finding Giant somatosensory evoked potentials Human Phenotype Ontology C3806961 HP:0001312 16 Feb 2016 Finding Giardiasis MONDO C0017536 MONDO:0001103 04 Jun 2020 Infectious disease Gigantiform cementoma C3495361 137575 16 Feb 2016 Disease Gigantism 16 Feb 2016 Disease Gigantism advanced bone age hoarse cry 16 Feb 2016 Disease Gigantomastia 16 Feb 2016 Disease GIL BLOOD GROUP OMIM C1843889 607457 607457 16 Feb 2016 Blood group Gilbert syndrome, susceptibility to NCBI curation C4016425 16 Feb 2016 Disease Gilbert's syndrome C0017551 143500 16 Feb 2016 Disease Gillespie syndrome NCBI curation C0431401 206700 06 Sep 2017 Disease Gillessen-Kaesbach-Nishimura dysplasia NCBI curation CN225190 16 Feb 2016 Finding Gillessen-Kaesbach-Nishimura syndrome NCBI curation C1849762 263210 22 Jan 2017 Disease Gingival bleeding Human Phenotype Ontology C0017565 HP:0000225 16 Feb 2016 Finding Gingival calcification Human Phenotype Ontology C4476612 HP:0025141 02 Apr 2017 Finding Gingival cancer MONDO C0153364 MONDO:0005507 17 Apr 2020 Disease Gingival cleft Human Phenotype Ontology C0426489 HP:0030690 02 Apr 2017 Finding Gingival fibroepithelial polyp MONDO C0399441 MONDO:0060768 17 Apr 2020 Disease Gingival fibromatosis Human Phenotype Ontology C0016049 HP:0000169 16 Feb 2016 Finding Gingival fibromatosis 1 NCBI curation C4551558 135300 16 Feb 2016 Disease Gingival fibromatosis 2 NCBI curation C1854181 605544 16 Feb 2016 Disease Gingival fibromatosis 3 NCBI curation C1864960 609955 16 Feb 2016 Disease Gingival fibromatosis 4 NCBI curation C1970245 611010 16 Feb 2016 Disease Gingival fibromatosis-facial dysmorphism syndrome MONDO C1856761 MONDO:0009228 228560 17 Apr 2020 Disease Gingival fibromatosis-hypertrichosis syndrome MONDO C1851120 MONDO:0007610 135400 17 Apr 2020 Disease Gingival fibromatosis-progressive deafness syndrome MONDO C1851112 MONDO:0007612 135550 17 Apr 2020 Disease Gingival hyperkeratosis Human Phenotype Ontology C1857013 HP:0000222 16 Feb 2016 Finding Gingival neoplasm MONDO C0017570 MONDO:0021086 17 Apr 2020 Disease Gingival overgrowth Human Phenotype Ontology C0376480 HP:0000212 16 Feb 2016 Finding Gingival recession Human Phenotype Ontology C0017572 HP:0030816 02 Apr 2017 Finding Gingivitis Human Phenotype Ontology C0017574 HP:0000230 16 Feb 2016 Finding GJB2-Related Disorders 23 May 2019 Disease GJB3-Related Erythrokeratodermia Variabilis CN229778 16 Feb 2016 Disease GJB4-Related Erythrokeratodermia Variabilis CN229779 16 Feb 2016 Disease GJB6-related disorders CN239373 02 Dec 2016 Disease GJC2-Related Disorders CN230087 16 Feb 2016 Disease Glabellar hemangioma Human Phenotype Ontology C1854408 HP:0001076 16 Feb 2016 Finding Glabellar reflex Human Phenotype Ontology C4293678 HP:0030904 02 Apr 2017 Finding Glanders C0017589 16 Feb 2016 Infectious disease Glandular cell neoplasm Human Phenotype Ontology C1333820 HP:0031493 04 Apr 2018 Finding Glandular cystitis MONDO C0268837 MONDO:0002287 17 Apr 2020 Disease Glandular hypospadias Human Phenotype Ontology C0452168 HP:0000807 16 Feb 2016 Finding Glandular papilloma MONDO C3282896 MONDO:0021078 17 Apr 2020 Disease Glandular tularemia MONDO C0275974 MONDO:0000320 04 Jun 2020 Infectious disease Glans penis cancer MONDO C0153599 MONDO:0001388 17 Apr 2020 Disease Glanzmann thrombasthenia NCBI curation C0040015 273800 13 Jan 2017 Disease Glass-chapman-hockley syndrome MONDO CN268574 MONDO:0023243 22 Apr 2020 Disease Glassy cell carcinoma of the cervix 16 Feb 2016 Disease Glaucoma NCBI curation C0017601 16 Feb 2016 Disease Glaucoma 1, open angle, A MONDO C1842028 MONDO:0007664 137750 17 Apr 2020 Disease Glaucoma 1, open angle, a, autosomal recessive NCBI curation C4016749 16 Feb 2016 Disease Glaucoma 1, open angle, a, digenic NCBI curation C4016750 16 Feb 2016 Disease Glaucoma 1, open angle, B NCBI curation C3887942 606689 16 Feb 2016 Disease Glaucoma 1, open angle, D NCBI curation C1865427 602429 16 Feb 2016 Disease Glaucoma 1, open angle, e NCBI curation C1842026 16 Feb 2016 Disease Glaucoma 1, open angle, F NCBI curation C1863926 603383 16 Feb 2016 Disease Glaucoma 1, open angle, G NCBI curation C1835933 609887 16 Feb 2016 Disease Glaucoma 1, open angle, H NCBI curation C1969811 611276 16 Feb 2016 Disease Glaucoma 1, open angle, I NCBI curation C1857852 609745 16 Feb 2016 Disease Glaucoma 1, open angle, J NCBI curation C1837528 608695 16 Feb 2016 Disease Glaucoma 1, open angle, K NCBI curation C1837527 608696 16 Feb 2016 Disease Glaucoma 1, open angle, l NCBI curation 16 Feb 2016 Disease Glaucoma 1, open angle, M NCBI curation C1864653 610535 16 Feb 2016 Disease Glaucoma 1, open angle, N NCBI curation C1969812 611274 16 Feb 2016 Disease Glaucoma 1, open angle, O NCBI curation C2751294 613100 16 Feb 2016 Disease Glaucoma 1, open angle, p NCBI curation C3888338 177700 24 Aug 2016 Disease Glaucoma 1, primary open angle, c NCBI curation C1866483 601682 24 Aug 2016 Disease Glaucoma 3, primary congenital, A NCBI curation C1856439 231300 17 May 2018 Disease Glaucoma 3, primary congenital, a, digenic NCBI curation C1866550 16 Feb 2016 Disease Glaucoma 3, primary congenital, c NCBI curation C3888011 613085 16 Feb 2016 Disease Glaucoma 3, primary congenital, d NCBI curation C2751316 613086 16 Feb 2016 Disease Glaucoma 3, primary congenital, E NCBI curation C4310639 617272 21 Jun 2017 Disease Glaucoma 3, primary infantile, b NCBI curation C1832977 600975 16 Feb 2016 Disease Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset CN177976 16 Feb 2016 Disease Glaucoma iridogoniodysgenesia 16 Feb 2016 Disease Glaucoma iridogoniodysplasia, familial NCBI curation 16 Feb 2016 Disease Glaucoma type 1C 16 Feb 2016 Disease Glaucoma with elevated episcleral venous pressure NCBI curation C1842030 137700 16 Feb 2016 Disease Glaucoma, congenital C0020302 25 Mar 2020 Disease Glaucoma, early-onset, digenic NCBI curation C4016760 15 Nov 2018 Disease Glaucoma, hereditary adult type 1A 16 Feb 2016 Disease Glaucoma, hereditary juvenile type 1B 16 Feb 2016 Disease Glaucoma, normal tension, susceptibility to NCBI curation C1847730 606657 16 Feb 2016 Disease GLAUCOMA, PRIMARY CLOSED-ANGLE OMIM CN280897 618880 618880 13 May 2020 Disease Glaucoma, primary infantile type 3A 16 Feb 2016 Disease Glaucoma, primary open angle, juvenile-onset NCBI curation C3278153 15 Nov 2018 Disease Glaucoma-sleep apnea syndrome MONDO C1842025 MONDO:0007666 137763 17 Apr 2020 Disease Glaucomatocyclitic crisis MONDO C0152138 MONDO:0004772 17 Apr 2020 Disease Glaucomatous atrophy of optic disc MONDO C0271342 MONDO:0001006 17 Apr 2020 Disease Glaucomatous visual field defect Human Phenotype Ontology C1299694 HP:0007854 16 Feb 2016 Finding GLB1-Related Disorders CN169666 16 Feb 2016 Disease GLE1-Related Disorders 23 May 2019 Disease Glenoid fossa hypoplasia Human Phenotype Ontology C1834384 HP:0006633 16 Feb 2016 Finding GLI3-Related Disorders CN239292 02 Dec 2016 Disease GLI3-related postaxial polydactyly 21 Dec 2019 Disease Glial remnants anterior to the optic disc Human Phenotype Ontology C4280791 HP:0030743 02 Apr 2017 Finding Glial remnants posterior to lens Human Phenotype Ontology C1299892 HP:0030742 02 Apr 2017 Finding Glial tumor of neuroepithelial tissue with unknown origin MONDO CN201948 MONDO:0016704 17 Apr 2020 Disease glibenclamide response - Efficacy PharmGKB 1449564951PA449782 28 Jun 2019 Pharmacological response gliclazide response - Efficacy PharmGKB 1449564951PA10892 28 Jun 2019 Pharmacological response Glimepiride response NCBI curation CN437678 05 Sep 2017 Pharmacological response glimepiride response - Efficacy PharmGKB 1449564951PA449761 28 Jun 2019 Pharmacological response Glioblastoma Human Phenotype Ontology C0017636 HP:0100843 16 Feb 2016 Disease Glioblastoma 3 CN259027 13 Jun 2019 Disease Glioblastoma multiforme Human Phenotype Ontology C1621958 HP:0012174 16 Feb 2016 Disease Glioblastoma multiforme, somatic NCBI curation C4016231 26 Jul 2016 Disease Glioependymal/ependymal cyst MONDO CN202462 MONDO:0017105 17 Apr 2020 Disease Gliofibroma MONDO C1266178 MONDO:0003170 17 Apr 2020 Disease Glioma OMIM phenotypic series C0017638 PS137800 16 Feb 2016 Disease Glioma Human Phenotype Ontology C0017638 HP:0009733 16 Feb 2016 Disease glioma diagnosis 12 Feb 2019 Finding Glioma of brain NCBI curation C0349661 16 Feb 2016 Disease Glioma of brain, familial NCBI curation 16 Feb 2016 Disease Glioma susceptibility 1 NCBI curation C2750850 137800 16 Feb 2016 Disease Glioma susceptibility 2 NCBI curation C2751642 613028 16 Feb 2016 Disease Glioma susceptibility 3 NCBI curation C2751641 613029 16 Feb 2016 Disease Glioma susceptibility 4 NCBI curation C2750944 607248 16 Feb 2016 Disease Glioma susceptibility 5 NCBI curation C2751640 613030 16 Feb 2016 Disease Glioma susceptibility 6 NCBI curation C2751639 613031 16 Feb 2016 Disease Glioma susceptibility 7 NCBI curation C2751638 613032 16 Feb 2016 Disease Glioma susceptibility 8 NCBI curation C2751637 613033 16 Feb 2016 Disease Glioma susceptibility 9 NCBI curation C4225278 616568 16 Feb 2016 Disease Glioma, susceptibility to, somatic CN259028 13 Jun 2019 Disease Gliomatosis cerebri C0334576 16 Feb 2016 Disease Gliosarcoma C0206726 16 Feb 2016 Disease Gliosis Human Phenotype Ontology C0017639 HP:0002171 16 Feb 2016 Finding Glipizide response NCBI curation C1832730 05 Sep 2017 Pharmacological response glipizide response - Efficacy PharmGKB 1449564951PA449762 28 Jun 2019 Pharmacological response gliquidone response - Efficacy PharmGKB 1449564951PA164744895 28 Jun 2019 Pharmacological response Glm NCBI curation 16 Feb 2016 Disease Global brain atrophy Human Phenotype Ontology C0241816 HP:0002283 16 Feb 2016 Finding Global cerebellar malformation MONDO CN227088 MONDO:0017114 17 Apr 2020 Disease Global decline in neck holding and sitting CN234612 16 Feb 2016 Finding Global developmental delay NCBI curation C0557874 16 Feb 2016 Disease Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome MONDO C4748924 MONDO:0018445 618272 28 May 2020 Disease Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair 28 Sep 2018 Disease GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT OMIM C5193032 618330 618330 20 Feb 2019 Disease Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies NCBI curation C4310644 617260 20 Jun 2017 Disease Global developmental delay, hypotonia, abdomen distension CN305697 10 Jul 2017 Finding GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE OMIM C5193080 618412 618412 03 May 2019 Disease Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome MONDO CN262993 MONDO:0034104 17 Apr 2020 Disease Global developmental delay-osteopenia-ectodermal defect syndrome MONDO C4303570 MONDO:0019129 17 Apr 2020 Disease Global Developmental Delay. 18 Jan 2019 Finding Global disaccharide intolerance 16 Feb 2016 Disease Global glomerulosclerosis Human Phenotype Ontology C1865276 HP:0004737 16 Feb 2016 Finding global hypotonia 25 Feb 2020 Disease global muscular weakness 26 Feb 2020 Finding Global proximal tubulopathy Human Phenotype Ontology C4022839 HP:0012573 16 Feb 2016 Finding Global systolic dysfunction Human Phenotype Ontology C1847397 HP:0005185 16 Feb 2016 Finding Globe disease MONDO MONDO:0001524 17 Apr 2020 Disease Globe retraction and deviation on abduction Human Phenotype Ontology C4025848 HP:0000497 16 Feb 2016 Finding Globozoospermia Human Phenotype Ontology C0403825 HP:0012205 102530 16 Feb 2016 Disease Globulin anomaly involving beta (2a)-globulin NCBI curation C1842009 137900 24 Aug 2016 Disease Glomangioma MONDO C0334421 MONDO:0002299 17 Apr 2020 Disease Glomangiomatosis MONDO C1333824 MONDO:0004035 17 Apr 2020 Disease Glomangiomyoma MONDO C0334422 MONDO:0024323 17 Apr 2020 Disease Glomerular C3 deposition Human Phenotype Ontology C4476555 HP:0012576 02 Apr 2017 Finding Glomerular deposits Human Phenotype Ontology C4476870 HP:0030949 02 Apr 2017 Finding Glomerular disease MONDO CN580795 MONDO:0019722 17 Apr 2020 Disease Glomerular subendothelial electron-dense deposits Human Phenotype Ontology C4476539 HP:0004746 02 Apr 2017 Finding Glomerulocystic kidney disease with hyperuricemia and isosthenuria NCBI curation C1835934 609886 16 Feb 2016 Disease Glomeruloid hemangioma Human Phenotype Ontology C1304511 HP:0031357 04 Apr 2018 Finding Glomerulomegaly Human Phenotype Ontology C4022604 HP:0030162 16 Feb 2016 Finding glomerulonephritis (chronic and hereditary) 20 Jun 2019 Finding Glomerulonephritis (disease) MONDO C0017658 MONDO:0002462 17 Apr 2020 Disease Glomerulonephritis with sparse hair and telangiectases C4317151 137940 16 Feb 2016 Disease Glomerulopathy Human Phenotype Ontology C0268731 HP:0100820 16 Feb 2016 Finding Glomerulopathy with fibronectin deposits OMIM phenotypic series C3888104 PS137950 15 Jan 2020 Disease Glomerulopathy with fibronectin deposits 1 NCBI curation C0403557 137950 15 Jan 2020 Disease Glomerulopathy with fibronectin deposits 2 C1866075 601894 16 Feb 2016 Disease Glomerulosclerosis Human Phenotype Ontology C0178664 HP:0000096 16 Feb 2016 Finding Glomus jugular tumor Human Phenotype Ontology C0017671 HP:0003001 16 Feb 2016 Finding Glomus jugulare neoplasm MONDO MONDO:0021257 17 Apr 2020 Disease Glomus tympanicum paraganglioma Human Phenotype Ontology C1866555 HP:0006715 16 Feb 2016 Finding Glomus tympanicum tumor C0474820 16 Feb 2016 Disease Glomuvenous malformations NCBI curation C1841984 138000 16 Feb 2016 Disease Glossitis Human Phenotype Ontology C0017675 HP:0000206 16 Feb 2016 Finding Glossodynia 16 Feb 2016 Disease Glossopalatine ankylosis MONDO C4303569 MONDO:0015399 17 Apr 2020 Disease Glossopalatine ankylosis micrognathia ear anomalies 16 Feb 2016 Disease Glossopharyngeal motor neuropathy MONDO C0751942 MONDO:0004279 17 Apr 2020 Disease Glossopharyngeal nerve disease MONDO C0751941 MONDO:0002639 17 Apr 2020 Disease Glossopharyngeal nerve neoplasm MONDO C1263900 MONDO:0002638 17 Apr 2020 Disease Glossopharyngeal nerve paralysis MONDO C0919940 MONDO:0002781 17 Apr 2020 Disease Glossopharyngeal neuralgia C0154731 16 Feb 2016 Disease Glossoptosis Human Phenotype Ontology C0267048 HP:0000162 16 Feb 2016 Finding Glottis cancer MONDO C0153483 MONDO:0002351 17 Apr 2020 Disease Glottis carcinoma MONDO C0740083 MONDO:0002355 17 Apr 2020 Disease Glottis neoplasm MONDO C0345713 MONDO:0002353 17 Apr 2020 Disease Glottis squamous cell carcinoma MONDO C0280325 MONDO:0004080 17 Apr 2020 Disease Glottis verrucous carcinoma MONDO C0280329 MONDO:0004289 17 Apr 2020 Disease Glucagonoma syndrome NCBI curation C0017689 16 Feb 2016 Disease Glucocorticoid Deficiency C1955741 02 Dec 2016 Disease Glucocorticoid deficiency 2 NCBI curation C4049714 607398 16 Feb 2016 Disease Glucocorticoid deficiency 3 NCBI curation C1836621 609197 16 Feb 2016 Disease GLUCOCORTICOID DEFICIENCY 4 WITH MINERALOCORTICOID DEFICIENCY 13 Oct 2016 Disease Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency NCBI curation C3553587 614736 20 Jun 2017 Disease GLUCOCORTICOID DEFICIENCY 5 OMIM C4540522 617825 617825 24 Dec 2017 Disease Glucocorticoid deficiency with achalasia C0271742 231550 16 Feb 2016 Disease Glucocorticoid deficiency, due to ACTH unresponsiveness CN259024 13 Jun 2019 Disease Glucocorticoid deficiency, familial 16 Feb 2016 Disease Glucocorticoid receptor deficiency NCBI curation 16 Feb 2016 Disease GLUCOCORTICOID RECEPTOR POLYMORPHISM 16 Feb 2016 Disease Glucocorticoid resistance, cellular NCBI curation C4016112 16 Feb 2016 Disease Glucocorticoid resistance, generalized NCBI curation C1841972 615962 16 Feb 2016 Disease Glucocorticoid resistance, relative NCBI curation C4016115 16 Feb 2016 Disease Glucocorticoid sensitive hypertension 16 Feb 2016 Disease Glucocorticoid therapy, response to NCBI curation C3280689 614400 16 Feb 2016 Disease Glucocorticoid-induced osteoporosis MONDO MONDO:0000757 17 Apr 2020 Disease Glucocortocoid-insensitive primary hyperaldosteronism Human Phenotype Ontology C4023208 HP:0011740 16 Feb 2016 Finding Glucoglycinuria C0268536 138070 16 Feb 2016 Disease Gluconeogenesis disorder MONDO CN227592 MONDO:0019225 17 Apr 2020 Disease Glucose 6 phosphate dehydrogenase deficiency NCBI curation C2939465 30 Dec 2017 Disease glucose homeostasis, hyperinsulinemia, dry skin, heavy hair, elevated testosterone and growth retardation CN295533 06 Jul 2017 Finding Glucose intolerance Human Phenotype Ontology C0271650 HP:0000833 16 Feb 2016 Finding Glucose metabolism disease MONDO C1257958 MONDO:0002908 17 Apr 2020 Disease Glucose transport disorder MONDO CN227593 MONDO:0019226 17 Apr 2020 Disease Glucose-6-phosphate dehydrogenase variants, molecular defect unknown NCBI curation 16 Feb 2016 Disease Glucose-6-phosphate dehydrogenase-like MONDO C1414893 MONDO:0007674 17 Apr 2020 Disease Glucose-6-phosphate translocase deficiency 16 Feb 2016 Disease Glucose-6-phosphate transport defect C0268146 232220 16 Feb 2016 Disease Glucosephosphate isomerase deficiency CN072763 16 Feb 2016 Disease Glucosidase acid-1,4-alpha deficiency CN072764 16 Feb 2016 Disease Glue ear Human Phenotype Ontology C0029883 HP:0040262 02 Apr 2017 Finding GLUT1 deficiency syndrome MONDO C1847501 MONDO:0000188 22 Apr 2020 Disease GLUT1 deficiency syndrome 1 NCBI curation C4551966 606777 06 Nov 2016 Disease GLUT1 deficiency syndrome 1, autosomal recessive NCBI curation C3149117 06 Mar 2016 Disease GLUT1 deficiency syndrome 2 NCBI curation C1842534 612126 16 Feb 2016 Disease Glut2 deficiency 16 Feb 2016 Disease GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY OMIM C0268609 229100 229100 18 May 2016 Disease Glutamic acid decarboxylase, brain, membrane form NCBI curation C1841911 138277 16 Feb 2016 Disease GLUTAMIC PYRUVATE TRANSAMINASE POLYMORPHISM 16 Feb 2016 Disease Glutamyl ribose-5-phosphate storage disease NCBI curation C1844440 305920 16 Feb 2016 Disease Glutaric acidemia Human Phenotype Ontology C4025603 HP:0003530 16 Feb 2016 Finding Glutaric acidemia IIA NCBI curation C3278154 16 Feb 2016 Disease Glutaric acidemia IIB NCBI curation C3278155 16 Feb 2016 Disease Glutaric acidemia IIC NCBI curation C3278156 16 Feb 2016 Disease Glutaric acidemia iic, late-onset NCBI curation C4016438 26 May 2016 Disease Glutaric aciduria Human Phenotype Ontology C0268594 HP:0003150 16 Feb 2016 Finding Glutaric aciduria, type 1 NCBI curation C0268595 231670 16 Feb 2016 Disease Glutaricaciduria, type I 30 Jun 2019 Disease Glutaryl-CoA oxidase deficiency C0342873 231690 16 Feb 2016 Disease Glutathione peroxidase deficiency NCBI curation C0398747 614164 16 Feb 2016 Disease GLUTATHIONE PEROXIDASE POLYMORPHISM 16 Feb 2016 Disease Glutathione reductase, hemolytic anemia due to deficiency of, in red cells NCBI curation 16 Feb 2016 Disease GLUTATHIONE S-TRANSFERASE PI POLYMORPHISM, TYPE A 16 Feb 2016 Disease GLUTATHIONE S-TRANSFERASE PI POLYMORPHISM, TYPE B 16 Feb 2016 Disease GLUTATHIONE S-TRANSFERASE PI POLYMORPHISM, TYPE C 16 Feb 2016 Disease Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to NCBI curation C1856399 231900 16 Feb 2016 Disease Glutathione transferase activity toward trans-stilbene oxide NCBI curation C1841901 138340 16 Feb 2016 Disease Gluteal muscles, absence of NCBI curation C1856398 231970 16 Feb 2016 Disease Gluten allergy MONDO CN274262 MONDO:0000606 17 Apr 2020 Disease Gluten intolerance Human Phenotype Ontology C4317045 HP:0012538 16 Feb 2016 Finding Gluthathione synthetase deficiency C0398746 266130 16 Feb 2016 Disease Glyburide response NCBI curation CN437679 05 Sep 2017 Pharmacological response Glycemia variation NCBI curation C4016700 16 Feb 2016 Disease Glycerol release during exercise, defective NCBI curation C3280715 614411 16 Feb 2016 Disease Glycine encephalopathy with normal serum glycine NCBI curation C4310943 617301 20 Jun 2017 Disease Glycine metabolism disease MONDO C0268558 MONDO:0045020 17 Apr 2020 Disease Glycine N-methyltransferase deficiency C1847720 606664 16 Feb 2016 Disease Glycogen accumulation in muscle fiber lysosomes Human Phenotype Ontology C4022567 HP:0030231 16 Feb 2016 Finding Glycogen content in skeletal muscle, increased NCBI curation C3887972 16 Feb 2016 Finding Glycogen phosphorylase kinase deficiency NCBI curation C0268147 16 Feb 2016 Disease Glycogen storage disease NCBI curation C0017919 16 Feb 2016 Disease Glycogen storage disease 0, muscle NCBI curation C1969054 611556 16 Feb 2016 Disease Glycogen storage disease due to acid maltase deficiency, infantile onset MONDO C3888924 MONDO:0017694 17 Apr 2020 Disease Glycogen storage disease due to acid maltase deficiency, late-onset MONDO C0342753 MONDO:0018485 17 Apr 2020 Disease Glycogen storage disease due to glucose-6-phosphatase deficiency type IA MONDO C2919796 MONDO:0009287 232200 17 Apr 2020 Disease Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form Orphanet C1856306 ORPHA308712 06 Mar 2020 Disease Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form MONDO C1856303 MONDO:0017697 07 Jun 2020 Disease Glycogen storage disease due to glycogen synthase deficiency MONDO CN203589 MONDO:0017693 17 Apr 2020 Disease Glycogen storage disease due to hepatic glycogen synthase deficiency MONDO C1855861 MONDO:0009414 240600 17 Apr 2020 Disease Glycogen storage disease due to lactate dehydrogenase deficiency MONDO C0342769 MONDO:0016527 17 Apr 2020 Disease Glycogen storage disease due to muscle beta-enolase deficiency MONDO C2752027 MONDO:0013046 612932 17 Apr 2020 Disease Glycogen storage disease Id NCBI curation C0342750 16 Feb 2016 Disease Glycogen storage disease II, adult form NCBI curation C4016981 29 Oct 2017 Disease Glycogen storage disease IIIa NCBI curation C1968739 16 Feb 2016 Disease Glycogen storage disease IIIb NCBI curation C1968740 16 Feb 2016 Disease Glycogen storage disease IIIc NCBI curation C1968741 16 Feb 2016 Disease Glycogen storage disease IIId NCBI curation C1968742 16 Feb 2016 Disease Glycogen storage disease IV, childhood neuromuscular NCBI curation C1856305 13 Dec 2018 Disease Glycogen storage disease IV, classic hepatic NCBI curation C1856301 13 Dec 2018 Disease Glycogen storage disease IV, combined hepatic and myopathic NCBI curation C4017116 13 Dec 2018 Disease Glycogen storage disease IV, congenital neuromuscular NCBI curation C1856304 16 Feb 2016 Disease Glycogen storage disease IV, fatal perinatal neuromuscular NCBI curation C4017117 13 Dec 2018 Disease Glycogen storage disease IV, nonprogressive hepatic NCBI curation C4017114 09 Jan 2017 Disease Glycogen storage disease IXa2 NCBI curation C2748941 16 Feb 2016 Disease Glycogen storage disease IXb NCBI curation C0543514 261750 16 Feb 2016 Disease Glycogen storage disease IXc NCBI curation C2751643 613027 16 Feb 2016 Disease Glycogen storage disease IXd NCBI curation C1845151 300559 16 Feb 2016 Disease Glycogen storage disease of heart, lethal congenital NCBI curation C1849813 261740 16 Feb 2016 Disease Glycogen storage disease type 1 due to SLC37A4 mutation MONDO C2931345 MONDO:0023258 17 Apr 2020 Disease Glycogen storage disease type 6, due to phosphorylation CN072767 16 Feb 2016 Disease Glycogen storage disease type II, infantile NCBI curation C0751173 16 Feb 2016 Disease Glycogen storage disease type III NCBI curation C0017922 232400 16 Feb 2016 Disease Glycogen storage disease type IXa1 NCBI curation C3694531 306000 16 Feb 2016 Disease Glycogen storage disease type X NCBI curation C0268149 261670 16 Feb 2016 Disease Glycogen storage disease with hypertrophic cardiomyopathy MONDO CN201158 MONDO:0016325 17 Apr 2020 Disease Glycogen storage disease XI NCBI curation C2752022 612933 16 Feb 2016 Disease Glycogen storage disease XV NCBI curation C3150754 613507 16 Feb 2016 Disease Glycogen storage disease, type I NCBI curation C0017920 16 Feb 2016 Disease Glycogen storage disease, type II NCBI curation C0017921 232300 16 Feb 2016 Disease Glycogen storage disease, type IV NCBI curation C0017923 232500 16 Feb 2016 Disease Glycogen storage disease, type V C0017924 232600 16 Feb 2016 Disease Glycogen storage disease, type VI NCBI curation C0017925 232700 16 Feb 2016 Disease Glycogen storage disease, type VII NCBI curation C0017926 232800 16 Feb 2016 Disease glycogen storage disorder 05 Sep 2019 Finding glycogenic storage disorder 05 Sep 2019 Finding Glycopeptiduria Human Phenotype Ontology C4023061 HP:0012067 16 Feb 2016 Finding Glycophorin c, gerbich variant NCBI curation 16 Feb 2016 Disease Glycoprotein metabolism disease MONDO C0342844 MONDO:0045010 17 Apr 2020 Disease Glycoprotein storage disease NCBI curation C1856275 232900 16 Feb 2016 Disease Glycoprotein, renal NCBI curation C1841864 138710 16 Feb 2016 Disease Glycoproteinosis CN264035 16 Feb 2016 Disease Glycosuria Human Phenotype Ontology C0017979 HP:0003076 16 Feb 2016 Finding glycosuria or acetonuria 14 Mar 2019 Finding GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 OMIM C4540520 617810 617810 17 Dec 2017 Disease GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16 OMIM C4540521 617816 617816 22 Dec 2017 Disease GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 OMIM C4747891 618010 618010 24 Jun 2018 Disease GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 OMIM C4748357 618143 618143 13 Oct 2018 Disease Glycosylphosphatidylinositol biosynthesis defect 21 MONDO C5231419 MONDO:0032824 618590 28 May 2020 Disease Glyoxalase deficiency Human Phenotype Ontology C3279658 HP:0003258 16 Feb 2016 Finding GLYR1-related condition 27 Apr 2018 Finding GM1 gangliosidosis NCBI curation C0085131 26 Dec 2016 Disease GM1 gangliosidosis type 2 Orphanet C0268272 ORPHA79256 230600 13 Jul 2016 Disease GM1 gangliosidosis type 3 MONDO C0268273 MONDO:0009262 230650 22 Apr 2020 Disease GM1-gangliosidosis, type I, with cardiac involvement NCBI curation CN042792 09 Jan 2017 Disease GM2 gangliosidosis MONDO C0268274 MONDO:0017720 17 Apr 2020 Disease GM2 gangliosidosis, 0 variant CN072770 16 Feb 2016 Disease GM2-ganglioside accumulation Human Phenotype Ontology C1848920 HP:0003495 16 Feb 2016 Finding Gm2-gangliosidosis, adult NCBI curation C2874270 16 Feb 2016 Disease Gm2-gangliosidosis, adult chronic type NCBI curation C1848915 16 Feb 2016 Disease Gm2-gangliosidosis, adult-onset NCBI curation CN068775 16 Feb 2016 Disease GM2-gangliosidosis, B, B1, AB variant CN072771 16 Feb 2016 Disease Gm2-gangliosidosis, chronic NCBI curation C4016988 16 Feb 2016 Disease Gm2-gangliosidosis, juvenile NCBI curation C0268276 16 Feb 2016 Disease Gm2-gangliosidosis, late onset NCBI curation 16 Feb 2016 Disease Gm2-gangliosidosis, subacute NCBI curation 16 Feb 2016 Disease Gm2-gangliosidosis, variant b1 NCBI curation C2749283 16 Feb 2016 Disease GMP REDUCTASE POLYMORPHISM 16 Feb 2016 Disease Gms syndrome C1841854 138770 16 Feb 2016 Disease GNAS-related disorder 18 Apr 2019 Disease Gnathodiaphyseal dysplasia NCBI curation C1833736 166260 08 Mar 2016 Disease Gnathomiasis MONDO C0018013 MONDO:0005776 04 Jun 2020 Infectious disease GNB3 POLYMORPHISM 16 Feb 2016 Disease GNE myopathy Orphanet C1853926 ORPHA602 605820 08 Jul 2019 Disease GNPTAB-Related Disorders CN239375 02 Dec 2016 Disease Goat disease MONDO C0018018 MONDO:0025003 17 Apr 2020 Disease Goat milk allergy MONDO MONDO:0000797 17 Apr 2020 Disease Goblet cell carcinoma C0205695 16 Feb 2016 Disease Goiter Human Phenotype Ontology C0018021 HP:0000853 16 Feb 2016 Finding Goiter (disease) MONDO MONDO:0005397 17 Apr 2020 Disease Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors NCBI curation C0018022 138800 05 Nov 2017 Disease Goiter, multinodular 2 NCBI curation C1846033 300273 16 Feb 2016 Disease Goiter, multinodular 3 NCBI curation C1853686 606082 16 Feb 2016 Disease Goldberg-Shprintzen megacolon syndrome C1836123 609460 16 Feb 2016 Disease Goldblatt hypertension C2745953 184260 16 Feb 2016 Disease Goldenhar syndrome NCBI curation C3495417 164210 16 Feb 2016 Disease Goldmann-Favre syndrome NCBI curation C0339541 26 Feb 2017 Disease Goldstein Hutt syndrome C2931465 16 Feb 2016 Disease Gollop Coates syndrome 16 Feb 2016 Disease Gollop syndrome 16 Feb 2016 Disease Gollop-Wolfgang complex MONDO C1856789 MONDO:0009222 228250 17 Apr 2020 Disease GOMBO syndrome C1856274 233270 16 Feb 2016 Disease Gomez Lopez Hernandez syndrome C0795959 601853 16 Feb 2016 Disease Gonadal agenesis NCBI curation C0949331 600171 16 Feb 2016 Disease Gonadal calcification Human Phenotype Ontology C4024636 HP:0008703 16 Feb 2016 Finding Gonadal disease MONDO C0018050 MONDO:0002259 17 Apr 2020 Disease Gonadal dysgenesis Human Phenotype Ontology C0018051 HP:0000133 16 Feb 2016 Finding Gonadal dysgenesis mixed 16 Feb 2016 Disease Gonadal dysgenesis of gynecological interest MONDO CN261348 MONDO:0020038 17 Apr 2020 Disease Gonadal dysgenesis Turner type 16 Feb 2016 Disease Gonadal dysgenesis with female appearance, male Human Phenotype Ontology C4024632 HP:0008723 16 Feb 2016 Finding Gonadal dysgenesis XY type associated anomalies 16 Feb 2016 Disease GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY OMIM C5193085 618419 618419 09 May 2019 Disease Gonadal dysgenesis, male Human Phenotype Ontology C0018054 HP:0008668 16 Feb 2016 Finding Gonadal dysgenesis, XX type 16 Feb 2016 Disease Gonadal dysgenesis, xy type, with associated anomalies NCBI curation C1856272 233430 16 Feb 2016 Disease Gonadal hypoplasia Human Phenotype Ontology C0239761 HP:0008639 16 Feb 2016 Finding Gonadal neoplasm Human Phenotype Ontology C4021228 HP:0010785 16 Feb 2016 Finding Gonadal teratoma MONDO C3273942 MONDO:0006233 17 Apr 2020 Disease Gonadal tissue inappropriate for external genitalia or chromosomal sex Human Phenotype Ontology C1860268 HP:0003248 16 Feb 2016 Finding Gonadal tissue neoplasm MONDO C0206722 MONDO:0006773 17 Apr 2020 Disease Gonadoblastoma Human Phenotype Ontology C0206661 HP:0000150 424500 16 Feb 2016 Disease Gonadotropin deficiency Human Phenotype Ontology C0271623 HP:0008213 04 Apr 2018 Finding Gonadotropin-independent familial sexual precocity C0342549 176410 16 Feb 2016 Disease Goniodysgenesis MONDO C0311237 MONDO:0020218 17 Apr 2020 Disease Goniodysgenesis mental retardation short stature 16 Feb 2016 Disease Gonococcal bursitis MONDO C0153218 MONDO:0001719 04 Jun 2020 Infectious disease Gonococcal cervicitis MONDO C0812378 MONDO:0021157 04 Jun 2020 Infectious disease Gonococcal conjunctivitis C0339166 16 Feb 2016 Infectious disease Gonococcal cystitis MONDO C0473230 MONDO:0021160 04 Jun 2020 Infectious disease Gonococcal endophthalmia MONDO C0153213 MONDO:0004853 04 Jun 2020 Infectious disease Gonococcal epididymo-orchitis MONDO C0341782 MONDO:0021158 04 Jun 2020 Infectious disease Gonococcal infection of joint MONDO C0153216 MONDO:0041903 04 Jun 2020 Infectious disease Gonococcal iridocyclitis MONDO C0153212 MONDO:0004774 04 Jun 2020 Infectious disease Gonococcal keratitis MONDO C0153214 MONDO:0004852 04 Jun 2020 Infectious disease Gonococcal prostatitis MONDO C0341755 MONDO:0021161 04 Jun 2020 Infectious disease Gonococcal salpingitis MONDO C0341811 MONDO:0021159 04 Jun 2020 Infectious disease Gonococcal seminal vesiculitis MONDO C0578661 MONDO:0001027 04 Jun 2020 Infectious disease Gonococcal spondylitis MONDO C0153219 MONDO:0001640 04 Jun 2020 Infectious disease Gonococcal synovitis MONDO C0275662 MONDO:0001720 04 Jun 2020 Infectious disease Gonococcal urethritis MONDO C0018078 MONDO:0020971 04 Jun 2020 Infectious disease Gonorrhea MONDO C0018081 MONDO:0004277 04 Jun 2020 Infectious disease Gonosome anomaly MONDO CN227746 MONDO:0020058 17 Apr 2020 Disease Gonosome number anomaly MONDO CN227747 MONDO:0020059 17 Apr 2020 Disease Gonosome structural anomaly MONDO CN227748 MONDO:0020060 17 Apr 2020 Disease Gonzales Del Angel syndrome 16 Feb 2016 Disease Gordon Holmes syndrome NCBI curation C1859305 212840 28 Oct 2016 Disease Gordon reflex Human Phenotype Ontology C4021048 HP:0030181 16 Feb 2016 Finding Gordon's syndrome C0220666 114300 16 Feb 2016 Disease Gorham's disease C0029438 123880 16 Feb 2016 Disease Gorlin Bushkell Jensen syndrome 16 Feb 2016 Disease Gorlin syndrome NCBI curation C0004779 109400 16 Feb 2016 Disease Gottron's papules Human Phenotype Ontology C0423781 HP:0025508 04 Apr 2018 Finding Gout PharmGKB C0018099 17 Feb 2017 Disease Gout Human Phenotype Ontology C0018099 HP:0001997 17 Feb 2017 Disease Gout susceptibility 2 NCBI curation 16 Feb 2016 Disease GOUT, PRPS-RELATED 16 Feb 2016 Disease Gouty nephropathy, familial 16 Feb 2016 Disease Gowers sign Human Phenotype Ontology C0234182 HP:0003391 16 Feb 2016 Finding GP130-deficient hyper-IgE syndrome 19 Jul 2019 Finding GPSM2-Related Disorders CN239377 02 Dec 2016 Disease GRACILE syndrome C1864002 603358 16 Feb 2016 Disease Grade I preterm intraventricular hemorrhage Human Phenotype Ontology C0475737 HP:0030748 02 Apr 2017 Finding Grade II glioma MONDO C4330050 MONDO:0021639 17 Apr 2020 Disease grade II hydronephrosis CN238743 19 Oct 2016 Finding Grade II meningioma MONDO C1512259 MONDO:0045056 17 Apr 2020 Disease Grade II preterm intraventricular hemorrhage Human Phenotype Ontology C4280788 HP:0030749 02 Apr 2017 Finding Grade III glioma MONDO C4287997 MONDO:0021640 17 Apr 2020 Disease Grade III meningioma MONDO C0280801 MONDO:0020634 17 Apr 2020 Disease Grade III preterm intraventricular hemorrhage Human Phenotype Ontology C4280787 HP:0030750 02 Apr 2017 Finding Grade III prostatic intraepithelial neoplasia MONDO C5200982 MONDO:0006234 07 Jun 2020 Disease Grade IV preterm intraventricular hemorrhage Human Phenotype Ontology C4280786 HP:0030751 02 Apr 2017 Finding Graft versus host disease 16 Feb 2016 Disease Graft-versus-host disease, resistance to NCBI curation C3280678 16 Feb 2016 Disease Graft-versus-host disease, susceptibility to NCBI curation C3280677 614395 16 Feb 2016 Disease Graham Little-Piccardi-Lassueur syndrome MONDO C4273658 MONDO:0018858 29 May 2020 Disease Graham-Boyle-Troxell syndrome MONDO C2931468 MONDO:0023275 22 Apr 2020 Disease Gram-negative bacterial infections MONDO C0085423 MONDO:0021678 04 Jun 2020 Infectious disease Gram-positive bacterial infections MONDO C0085426 MONDO:0021679 04 Jun 2020 Infectious disease Grammar-specific speech disorder Human Phenotype Ontology C4024956 HP:0006977 16 Feb 2016 Finding Grand Kaine Fulling syndrome 16 Feb 2016 Disease Granddad syndrome NCBI curation C1841836 138920 16 Feb 2016 Disease Grange syndrome NCBI curation C1865267 602531 20 Jun 2017 Disease Grant syndrome C1841835 138930 16 Feb 2016 Disease Granular casts Human Phenotype Ontology C0344391 HP:0031201 04 Apr 2018 Finding Granular cell cancer MONDO C0334618 MONDO:0003252 17 Apr 2020 Disease Granular cell carcinoma MONDO C0205644 MONDO:0003197 17 Apr 2020 Disease Granular cell leiomyosarcoma MONDO C1333871 MONDO:0003350 17 Apr 2020 Disease Granular cell tumor MONDO C0085167 MONDO:0006235 17 Apr 2020 Disease Granular corneal dystrophy Human Phenotype Ontology C0018179 HP:0007802 16 Feb 2016 Finding Granular macular appearance Human Phenotype Ontology C4024799 HP:0007793 16 Feb 2016 Finding Granular osmiophilic deposits (GROD) in cells Human Phenotype Ontology C1859833 HP:0003657 16 Feb 2016 Finding Granulocytic hyperplasia Human Phenotype Ontology C4023028 HP:0012138 16 Feb 2016 Finding Granulocytic hypoplasia Human Phenotype Ontology C1534864 HP:0012139 16 Feb 2016 Finding Granulocytic sarcoma MONDO C0152276 MONDO:0006237 07 Jun 2020 Disease Granulocytopenia Human Phenotype Ontology C4551627 HP:0001913 16 Feb 2016 Disease Granulocytopenia with immunoglobulin abnormality NCBI curation C1856263 233600 16 Feb 2016 Disease Granuloma annulare C0085074 16 Feb 2016 Disease Granuloma inguinale C0018190 16 Feb 2016 Infectious disease Granulomas, congenital cerebral C1844406 306300 16 Feb 2016 Disease Granulomatosis Human Phenotype Ontology C0521173 HP:0002955 16 Feb 2016 Finding Granulomatosis with polyangiitis NCBI curation C3495801 608710 14 Sep 2018 Disease Granulomatous amebic encephalitis MONDO C0338428 MONDO:0000291 04 Jun 2020 Infectious disease Granulomatous angiitis MONDO C0018202 MONDO:0002341 17 Apr 2020 Disease Granulomatous Angiitis of the Central Nervous System 16 Feb 2016 Disease Granulomatous autoinflammatory syndrome MONDO CN204101 MONDO:0017955 17 Apr 2020 Disease Granulomatous cholangitis Human Phenotype Ontology C4476897 HP:0030988 04 Apr 2018 Finding Granulomatous coronary arteritis Human Phenotype Ontology C4025007 HP:0006679 16 Feb 2016 Finding Granulomatous dermatitis MONDO C0743086 MONDO:0006555 17 Apr 2020 Disease Granulomatous disease with defect in neutrophil chemotaxis NCBI curation C1856261 233670 16 Feb 2016 Disease Granulomatous disease, chronic, autosomal dominant type NCBI curation C1841825 138990 16 Feb 2016 Disease Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative NCBI curation C1856255 233690 16 Feb 2016 Disease Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III NCBI curation C3151409 613960 24 Aug 2016 Disease Granulomatous disease, chronic, X-linked, variant NCBI curation CN043100 16 Feb 2016 Disease Granulomatous endometritis MONDO C1333876 MONDO:0003052 17 Apr 2020 Disease Granulomatous gastritis MONDO C1112577 MONDO:0002846 17 Apr 2020 Disease Granulomatous hepatitis MONDO C0235369 MONDO:0002252 17 Apr 2020 Disease Granulomatous hypophysitis 16 Feb 2016 Disease Granulomatous mastitis MONDO C0405469 MONDO:0018987 17 Apr 2020 Disease Granulomatous prostatitis MONDO C0018204 MONDO:0020977 17 Apr 2020 Disease Granulomatous rosacea 16 Feb 2016 Disease Granulosa Cell Tumor NCBI curation C0018206 02 Mar 2017 Disease Granulosa cell tumor of the ovary NCBI curation C1370419 16 Feb 2016 Disease Granulosis rubra nasi C0263471 139000 16 Feb 2016 Disease Granulovacuolar degeneration Human Phenotype Ontology C0333454 HP:0002528 16 Feb 2016 Finding Graphite Pneumoconiosis C0264439 16 Feb 2016 Disease Grasp reflex Human Phenotype Ontology C0234175 HP:0030903 02 Apr 2017 Finding Graves disease Human Phenotype Ontology C1848795 HP:0100647 275000 04 Apr 2018 Disease Graves disease 1 NCBI curation 16 Feb 2016 Disease Graves disease 2 NCBI curation C1863923 603388 16 Feb 2016 Disease Graves disease 3 NCBI curation CN071124 16 Feb 2016 Disease Graves disease 4 NCBI curation 16 Feb 2016 Disease Graves disease, susceptibility to, X-linked 1 NCBI curation C2678151 300351 16 Feb 2016 Disease GRAVES DISEASE, SUSCEPTIBILITY TO, X-LINKED 2 16 Feb 2016 Disease Gray matter heterotopias Human Phenotype Ontology C0266491 HP:0002281 16 Feb 2016 Finding Gray platelet syndrome C0272302 139090 16 Feb 2016 Disease Graying of hair, precocious NCBI curation C1841809 139100 16 Feb 2016 Disease Grayish enamel Human Phenotype Ontology C1854783 HP:0000683 16 Feb 2016 Finding Grayson-Wilbrandt corneal dystrophy MONDO C4305579 MONDO:0017391 17 Apr 2020 Disease great toes 22 Aug 2019 Finding Great vessel cancer MONDO C3665405 MONDO:0040676 17 Apr 2020 Disease Great vessels transposition 16 Feb 2016 Disease Grebe syndrome C0265260 200700 16 Feb 2016 Disease Greek HPFH NCBI curation C4017537 06 Mar 2016 Disease Green mud crab allergy MONDO MONDO:0000801 17 Apr 2020 Disease Green Sandford Davison syndrome C2931777 16 Feb 2016 Disease Green teeth Human Phenotype Ontology C4023549 HP:0011075 16 Feb 2016 Finding Greenberg dysplasia C2931048 215140 16 Feb 2016 Disease Greig cephalopolysyndactyly syndrome C0265306 175700 16 Feb 2016 Disease Greig cephalopolysyndactyly syndrome, severe NCBI curation C4016299 07 May 2018 Disease Greither disease NCBI curation 16 Feb 2016 Disease GRFoma MONDO CN206877 MONDO:0019955 17 Apr 2020 Disease GRIA3-Related Disorder 13 Oct 2017 Disease GRIA4-related neurodevelopmental disorder 21 May 2020 Disease GRID2-related autosomal dominant spinocerebellar ataxia MONDO MONDO:0000563 17 Apr 2020 Disease GRIK2-related neurodevelopmental disorder 01 May 2020 Finding GRIN1-Related Disorder 13 Oct 2017 Disease GRIN2B Encephalopathy CN257759 02 Nov 2018 Disease GRIN2B-Related Disorder 29 Aug 2019 Disease Griscelli syndrome OMIM phenotypic series CN229566 PS214450 22 Jan 2020 Disease Griscelli syndrome type 1 C1859194 214450 16 Feb 2016 Disease Griscelli syndrome type 2 C1868679 607624 16 Feb 2016 Disease Griscelli syndrome type 3 C1836573 609227 16 Feb 2016 Disease Grix Blankenship Peterson syndrome 16 Feb 2016 Disease Grl deficiency NCBI curation 16 Feb 2016 Disease Grn-related frontotemporal lobar degeneration with Tdp43 inclusions MONDO C1843792 MONDO:0011842 607485 22 Apr 2020 Disease Groenouw corneal dystrophy type I C1641846 121900 16 Feb 2016 Disease Groin pain Human Phenotype Ontology C0239783 HP:0031520 04 Apr 2018 Finding Gross motor delays CN236731 09 Jun 2016 Finding Grosse syndrome 16 Feb 2016 Disease Ground glass opacity of humeral diaphysis Human Phenotype Ontology C4025499 HP:0003929 16 Feb 2016 Finding Ground-glass opacification on pulmonary HRCT Human Phenotype Ontology C4476639 HP:0025179 04 Apr 2018 Finding Group B strep disease in newborns 16 Feb 2016 Disease Grouped congenital hypertrophy of retinal pigment epithelium Human Phenotype Ontology C4072989 HP:0030504 16 Feb 2016 Finding Grouped pigmentation of the retina NCBI curation C1856244 233800 24 Aug 2016 Disease Growing teratoma syndrome MONDO C3891714 MONDO:0017807 17 Apr 2020 Disease Growth abnormality Human Phenotype Ontology C0262361 HP:0001507 16 Feb 2016 Finding Growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia NCBI curation C1858182 604690 16 Feb 2016 Disease Growth arrest lines Human Phenotype Ontology C1399128 HP:0031164 04 Apr 2018 Finding Growth control, Y-chromosome influenced NCBI curation C1868676 475000 16 Feb 2016 Disease Growth deficiency brachydactyly unusual facies 16 Feb 2016 Disease Growth delay C0456070 16 Feb 2016 Disease Growth delay due to insulin-like growth factor I resistance MONDO C1849157 MONDO:0010038 270450 17 Apr 2020 Disease Growth delay due to insulin-like growth factor type 1 deficiency MONDO C1837475 MONDO:0012110 608747 17 Apr 2020 Disease Growth delay-hydrocephaly-lung hypoplasia syndrome MONDO C1856052 MONDO:0009362 236640 17 Apr 2020 Disease Growth factors, combined defect of NCBI curation C2931279 233805 16 Feb 2016 Disease Growth failure C0878787 16 Feb 2016 Disease Growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy NCBI curation C1842321 608278 16 Feb 2016 Disease growth hormone defect 05 Sep 2019 Finding Growth hormone deficiency Human Phenotype Ontology C3714796 HP:0000824 16 Feb 2016 Finding Growth hormone deficiency with pituitary anomalies NCBI curation C2750027 16 Feb 2016 Disease growth hormone deficiency with short stature CN220452 16 Feb 2016 Finding Growth hormone deficiency, isolated, type IB CN259047 13 Jun 2019 Disease Growth hormone excess Human Phenotype Ontology C0235986 HP:0000845 16 Feb 2016 Finding Growth hormone, insensitivity to, partial NCBI curation CN168273 16 Feb 2016 Disease Growth hormone-producing pituitary gland carcinoma MONDO C1334587 MONDO:0003828 17 Apr 2020 Disease Growth restriction, severe, with distinctive facies NCBI curation C4225307 616489 16 Feb 2016 Disease Growth retardation alopecia pseudoanodontia optic 16 Feb 2016 Disease Growth retardation hydrocephaly lung hypoplasia 16 Feb 2016 Disease Growth retardation mental retardation phalangeal hypoplasia 16 Feb 2016 Disease growth retardation without microcephaly 22 Aug 2019 Finding Growth retardation, developmental delay, coarse facies, and early death NCBI curation C2752001 612938 16 Feb 2016 Disease Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy NCBI curation C4310720 617093 20 Jun 2017 Disease Growth retardation, small and puffy hands and feet, and eczema NCBI curation C1856242 233810 16 Feb 2016 Disease Growth retardation-mild developmental delay-chronic hepatitis syndrome MONDO C4751595 MONDO:0018317 17 Apr 2020 Disease Grubben de Cock Borghgraef syndrome 16 Feb 2016 Disease GSD IV, nonprogressive hepatic form NCBI curation C1856302 04 Mar 2020 Disease GSTM1-related lung cancer NCBI curation CN130015 16 Feb 2016 Disease GTDC2-Related Muscle Diseases CN230128 16 Feb 2016 Disease GTP cyclohydrolase I deficiency C0268467 233910 16 Feb 2016 Disease Guadalajara camptodactyly syndrome NCBI curation CN120500 16 Feb 2016 Disease Guanidinoacetate methyltransferase (GAMT) deficiency C2748618 12 Mar 2020 Disease Guanylate cyclase 2E MONDO MONDO:0011000 17 Apr 2020 Disease Guanylate kinase 3 MONDO C1841763 MONDO:0007689 17 Apr 2020 Disease Guillain-Barre syndrome NCBI curation 16 Feb 2016 Disease Guillain-Barre syndrome, familial NCBI curation C4083008 139393 16 Feb 2016 Disease Guizar Vasquez Sanchez Manzano syndrome 16 Feb 2016 Disease Gulo, nonfunctional NCBI curation 16 Feb 2016 Disease Gummatous syphilis MONDO CN281938 MONDO:0000363 04 Jun 2020 Infectious disease Gustatory auras Human Phenotype Ontology C0233766 HP:0011160 16 Feb 2016 Finding Gustatory lacrimation Human Phenotype Ontology C1862052 HP:0100274 16 Feb 2016 Finding Gustatory sweating Human Phenotype Ontology CN241328 HP:0025277 02 Apr 2017 Finding Guttate psoriasis C0343052 16 Feb 2016 Disease Guttmacher syndrome MONDO C1867801 MONDO:0008301 176305 17 Apr 2020 Disease Gynatresia MONDO C0018414 MONDO:0002946 17 Apr 2020 Disease Gynecology CN282557 17 Jun 2020 Pharmacological response Gynecomastia Human Phenotype Ontology C0018418 HP:0000771 16 Feb 2016 Finding Gyrate atrophy NCBI curation C0018425 24 Dec 2017 Disease Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia NCBI curation C4017305 16 Feb 2016 Disease H-type rectovestibular fistula Human Phenotype Ontology C4293694 HP:0025026 02 Apr 2017 Finding H3F3A-related condition 05 Oct 2018 Finding Habitual spontaneous abortion MONDO MONDO:0006774 17 Apr 2020 Disease Haddad syndrome Orphanet C1859049 ORPHA99803 16 Feb 2016 Disease HADHA-Related Disorders 23 May 2019 Disease Hadziselimovic syndrome NCBI curation C2751878 612946 16 Feb 2016 Disease Haemonchiasis MONDO C0018477 MONDO:0005778 04 Jun 2020 Infectious disease Haemophilus infectious disease MONDO CN281659 MONDO:0006926 04 Jun 2020 Infectious disease Haemophilus influenzae 16 Feb 2016 Disease Haemophilus meningitis MONDO C0025292 MONDO:0000889 04 Jun 2020 Infectious disease Haemorrhagic telangiectasia 1 CN221549 16 Feb 2016 Disease Haemorrhagic telangiectasia 2 CN221551 16 Feb 2016 Disease Haim-Munk syndrome C1855627 245010 16 Feb 2016 Disease Hair anomaly MONDO C0265991 MONDO:0019278 17 Apr 2020 Disease Hair defect with photosensitivity and intellectual disability syndrome MONDO MONDO:0022316 17 Apr 2020 Disease Hair defect-photosensitivity-intellectual disability syndrome MONDO C1856241 MONDO:0009316 234030 17 Apr 2020 Disease Hair follicle neoplasm Human Phenotype Ontology C0859920 HP:0012843 16 Feb 2016 Finding Hair morphology 1 NCBI curation C2675460 612630 16 Feb 2016 Disease Hair morphology 1, hair thickness NCBI curation C4016871 16 Feb 2016 Disease Hair morphology 2 NCBI curation C2697452 139450 16 Feb 2016 Disease Hair nevus MONDO C0018508 MONDO:0020980 17 Apr 2020 Disease Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes Human Phenotype Ontology C4025631 HP:0003329 16 Feb 2016 Finding Hair whorl NCBI curation C1841697 139400 16 Feb 2016 Disease HAIR-AN syndrome 16 Feb 2016 Disease Hair-nail ectodermal dysplasia Human Phenotype Ontology C4024880 HP:0007436 16 Feb 2016 Finding Hairy cell leukemia NCBI curation C0023443 16 Feb 2016 Disease Hairy cell leukemia variant MONDO C0349633 MONDO:0017600 17 Apr 2020 Disease Hairy ear NCBI curation C0263482 139500 16 Feb 2016 Disease Hairy ears, Y-linked NCBI curation C1839070 425500 16 Feb 2016 Disease Hairy nose tip C1841695 139630 16 Feb 2016 Disease Hairy palms and soles C1841694 139650 16 Feb 2016 Disease Hajdu-Cheney syndrome C0917715 102500 16 Feb 2016 Disease Halal syndrome 16 Feb 2016 Disease Halberd-shaped pelvis Human Phenotype Ontology C3277119 HP:0002826 02 Apr 2017 Finding half-open mouth 22 Aug 2019 Finding Halitosis Human Phenotype Ontology C0018520 HP:0100812 16 Feb 2016 Finding Hall-Riggs syndrome MONDO C1856198 MONDO:0009320 234250 17 Apr 2020 Disease Hallermann-Streiff syndrome C0018522 234100 16 Feb 2016 Disease Hallucinations Human Phenotype Ontology C0018524 HP:0000738 16 Feb 2016 Finding Hallucinatory auras Human Phenotype Ontology C4023084 HP:0012007 16 Feb 2016 Finding Hallucinogen abuse MONDO C0018526 MONDO:0001585 17 Apr 2020 Disease Hallucinogen dependence MONDO C0018528 MONDO:0004939 17 Apr 2020 Disease Hallux rigidus Human Phenotype Ontology C0264134 HP:0025004 02 Apr 2017 Finding Hallux valgus Human Phenotype Ontology C0018536 HP:0001822 16 Feb 2016 Finding Hallux valgus with foot arches CN236430 13 May 2016 Finding Hallux varus Human Phenotype Ontology C0546297 HP:0008080 16 Feb 2016 Finding Hallux varus-preaxial polysyndactyly syndrome MONDO C1856197 MONDO:0009321 234280 17 Apr 2020 Disease Halo nevus MONDO C0474824 MONDO:0006778 234300 27 May 2020 Disease Haloperidol response NCBI curation CN221260 16 Feb 2016 Pharmacological response haloperidol response - Toxicity/ADR PharmGKB CN236595 1446898992 18 May 2016 Pharmacological response Halothane hepatitis C0241913 234350 16 Feb 2016 Disease Halothane response CN263357 10 Mar 2020 Pharmacological response halothane response - Toxicity/ADR PharmGKB 1445400924PA449845 28 Jun 2019 Pharmacological response Hamamy syndrome NCBI curation C1970027 611174 24 Aug 2016 Disease Hamanishi Ueba Tsuji syndrome 16 Feb 2016 Disease Hamano Tsukamoto syndrome 16 Feb 2016 Disease Hamartoma Human Phenotype Ontology C0018552 HP:0010566 16 Feb 2016 Finding Hamartoma of hypothalamus NCBI curation C0342418 241800 16 Feb 2016 Disease Hamartoma of lung MONDO C0149927 MONDO:0021540 17 Apr 2020 Disease Hamartoma of skin appendage MONDO C1302712 MONDO:0021539 17 Apr 2020 Disease Hamartoma of the eye Human Phenotype Ontology C4023788 HP:0010568 16 Feb 2016 Finding Hamartoma of the orbital region Human Phenotype Ontology C4073121 HP:0030670 02 Apr 2017 Finding Hamartoma of tongue Human Phenotype Ontology CN167530 HP:0011802 16 Feb 2016 Finding Hamartoma, precalcaneal congenital fibrolipomatous NCBI curation C1853298 609808 16 Feb 2016 Disease Hamartomatous polyp C0334092 01 Jun 2017 Finding Hamartomatous polyposis Human Phenotype Ontology C3272802 HP:0004390 16 Feb 2016 Finding Hamartomatous stomach polyps Human Phenotype Ontology C1862304 HP:0004795 16 Feb 2016 Finding Hamel cerebro-palato-cardiac syndrome MONDO CN206702 MONDO:0019767 17 Apr 2020 Disease Hamman-rich disease NCBI curation 16 Feb 2016 Disease Hammertoe Human Phenotype Ontology C1136179 HP:0001765 16 Feb 2016 Finding Hamstring contractures Human Phenotype Ontology C0410266 HP:0003089 16 Feb 2016 Finding Hand and foot deformity with flat facies C1841693 139750 16 Feb 2016 Disease Hand clasping pattern NCBI curation C1841692 139800 16 Feb 2016 Disease Hand clenching Human Phenotype Ontology C0239815 HP:0001188 16 Feb 2016 Finding Hand dermatosis MONDO C0018567 MONDO:0006556 17 Apr 2020 Disease Hand dimples Human Phenotype Ontology C4280697 HP:0040251 02 Apr 2017 Finding Hand disease MONDO C1290871 MONDO:0044990 17 Apr 2020 Disease Hand monodactyly Human Phenotype Ontology C4025415 HP:0004058 02 Apr 2017 Finding Hand muscle atrophy Human Phenotype Ontology C0239830 HP:0009130 16 Feb 2016 Finding Hand muscle weakness Human Phenotype Ontology C0239831 HP:0030237 16 Feb 2016 Finding Hand oligodactyly Human Phenotype Ontology C0728895 HP:0001180 02 Apr 2017 Finding Hand polydactyly Human Phenotype Ontology C0158733 HP:0001161 16 Feb 2016 Finding Hand skill, relative NCBI curation C0023114 139900 16 Feb 2016 Disease Hand tremor Human Phenotype Ontology C0239842 HP:0002378 16 Feb 2016 Finding Hand, foot and mouth disease MONDO C0018572 MONDO:0005779 04 Jun 2020 Infectious disease Hand-foot-genital syndrome MONDO C1841679 MONDO:0007698 140000 22 Apr 2020 Disease Hand-Schuller-Christian disease NCBI curation CN969992 16 Feb 2016 Disease Hand-wringing C0239846 16 Feb 2016 Finding Handgrip myotonia Human Phenotype Ontology C1868623 HP:0012899 16 Feb 2016 Finding Handigodu joint disease NCBI curation C3150545 613343 16 Feb 2016 Disease hands with bilateral transverse fold 22 Aug 2019 Finding Hantavirosis 16 Feb 2016 Disease Hantavirus hemorrhagic fever with renal syndrome MONDO CN281780 MONDO:0005784 04 Jun 2020 Infectious disease Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type MONDO CN281937 MONDO:0000346 04 Jun 2020 Infectious disease Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type MONDO C0242993 MONDO:0000284 04 Jun 2020 Infectious disease Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type MONDO CN281920 MONDO:0000283 04 Jun 2020 Infectious disease Hantavirus infectious disease MONDO C0242994 MONDO:0005780 04 Jun 2020 Infectious disease Hantavirus pulmonary syndrome C0243025 16 Feb 2016 Infectious disease Haploinsufficiency Disorders NCBI curation 16 Feb 2016 Disease Happy demeanor Human Phenotype Ontology C1856115 HP:0040082 16 Feb 2016 Finding HAPTOGLOBIN, ALPHA-1, FAST-SLOW POLYMORPHISM 16 Feb 2016 Disease Haptoglobin, alpha-2 NCBI curation C4016146 16 Feb 2016 Disease Hard palate cancer MONDO C0153375 MONDO:0004719 17 Apr 2020 Disease Harderoporphyria NCBI curation C0342859 618892 16 Feb 2016 Disease Harel-Yoon syndrome NCBI curation C4310677 617183 20 Jun 2017 Disease Harlequin phenomenon Human Phenotype Ontology C4476835 HP:0025531 04 Apr 2018 Finding Harlequin syndrome C2029348 16 Feb 2016 Disease Harm avoidance behavior NCBI curation 16 Feb 2016 Disease Harrod syndrome MONDO C0795970 MONDO:0010993 601095 17 Apr 2020 Disease Hartsfield syndrome NCBI curation C1845146 615465 16 Feb 2016 Disease Has a syndromic presentation MONDO MONDO:0021127 17 Apr 2020 Disease Has an isolated presentation MONDO MONDO:0021128 17 Apr 2020 Disease Has treatment by surgery MONDO MONDO:0022201 17 Apr 2020 Disease Hashimoto thyroiditis Human Phenotype Ontology C0677607 HP:0000872 140300 16 Feb 2016 Disease Hashimoto thyroiditis, susceptibility to NCBI curation 16 Feb 2016 Disease Hashimoto-Pritzker syndrome C1275336 16 Feb 2016 Disease Hawkinsinuria Orphanet C2931042 ORPHA2118 140350 25 Dec 2019 Disease Hay-Wells syndrome of ectodermal dysplasia C0406709 106260 16 Feb 2016 Disease Hb aubenas NCBI curation 16 Feb 2016 Disease Hb Bart's hydrops fetalis MONDO CN199941 MONDO:0015579 17 Apr 2020 Disease Hb camperdown NCBI curation 16 Feb 2016 Disease Hb D-Los Angeles NCBI curation 16 Feb 2016 Named protein variant Hb gambara NCBI curation 16 Feb 2016 Disease Hb niigata NCBI curation 16 Feb 2016 Disease Hb SS disease NCBI curation C0002895 603903 16 Feb 2016 Disease HBB-Related Disorders CN239378 02 Dec 2016 Disease HBB/HBD anti-Lepore NCBI curation 16 Feb 2016 Disease HBC 14 Dec 2018 Finding HBD-Related Disorders 23 May 2020 Disease HBG1 POLYMORPHISM 16 Feb 2016 Disease HBH bodies CN243976 11 May 2017 Finding HbS hemoglobin Human Phenotype Ontology C4282073 HP:0045047 16 Feb 2016 Finding Hbv, resistance to NCBI curation C3552304 16 Feb 2016 Disease Hdl cholesterol, augmented response of, to hormone replacement NCBI curation CN071300 16 Feb 2016 Disease Hdl Deficiency, Type 2 C3711531 28 Feb 2020 Disease head and body tremor 15 Nov 2019 Finding Head and neck carcinoma MONDO C3887461 MONDO:0002038 17 Apr 2020 Disease Head and Neck Neoplasms NCBI curation C0018671 02 Mar 2017 Disease Head disease MONDO C1290856 MONDO:0005042 17 Apr 2020 Disease Head or neck disease/disorder MONDO C1333941 MONDO:0021059 17 Apr 2020 Disease Head titubation Human Phenotype Ontology C1608410 HP:0002599 16 Feb 2016 Finding Head tremor Human Phenotype Ontology C0239882 HP:0002346 16 Feb 2016 Finding Head-banging Human Phenotype Ontology C0018672 HP:0012168 16 Feb 2016 Finding Headache Human Phenotype Ontology C0018681 HP:0002315 16 Feb 2016 Finding Headache associated with sexual activity NCBI curation C0393754 607504 16 Feb 2016 Disease Headache disorder MONDO C0393735 MONDO:0021146 17 Apr 2020 Disease headache syndrome 05 Sep 2019 Finding headaches, bulbar dysfunction, failure to thrive, gastric dysmotility, and seizures 23 Jan 2020 Finding headbanging 05 Sep 2019 Finding Healthy 13 Apr 2018 Finding Healthy relative of proband 06 Mar 2019 Finding Hearing abnormality Human Phenotype Ontology C4025860 HP:0000364 16 Feb 2016 Finding hearing and visual acuity decreased 25 Jan 2019 Finding Hearing impairment Human Phenotype Ontology C1384666 HP:0000365 16 Feb 2016 Finding Hearing impairment and infertile male syndrome MONDO MONDO:0100069 17 Apr 2020 Disease Hearing loss NCBI curation C3887873 13 Oct 2017 Finding Hearing loss and ataxia 26 Jan 2018 Finding Hearing loss with skin disease MONDO MONDO:0100113 17 Apr 2020 Disease Hearing loss, cisplatin-induced, susceptibility to NCBI curation C2750088 613290 16 Feb 2016 Disease Hearing loss, noise-induced, susceptibility to NCBI curation C2751629 613035 16 Feb 2016 Disease Hearing loss-familial salivary gland insensitivity to aldosterone syndrome MONDO C2931369 MONDO:0017921 17 Apr 2020 Disease Hearing Loss/Deafness CN229757 16 Feb 2016 Disease Hearing problem C0260662 12 Mar 2016 Finding Heart abnormalities CN235078 16 Feb 2016 Finding Heart and brain malformation syndrome NCBI curation C4310793 616920 26 May 2016 Disease Heart and kidney abnormalities CN235231 19 Feb 2016 Finding Heart aneurysm MONDO C0018789 MONDO:0006779 17 Apr 2020 Disease Heart block Human Phenotype Ontology C0018794 HP:0012722 16 Feb 2016 Disease Heart block, nonprogressive NCBI curation C1861983 11 Nov 2018 Disease Heart block, progressive, type IA CN259069 14 Jun 2019 Disease Heart cancer MONDO MONDO:0001340 17 Apr 2020 Disease Heart conduction disease MONDO MONDO:0000992 17 Apr 2020 Disease Heart defect, tongue hamartoma and polysyndactyly 16 Feb 2016 Disease Heart defects-limb shortening syndrome MONDO C1859327 MONDO:0008917 212135 17 Apr 2020 Disease Heart disease NCBI curation C0018799 16 Feb 2016 Finding Heart disease: absent NCBI curation CN184661 16 Feb 2016 Finding Heart Diseases PharmGKB CN236661 18 May 2016 Disease Heart Diseases;Hemorrhage;Intracranial Hemorrhages;Myocardial Infarction;Peripheral Vascular Diseases;Thromboembolism;venous thromboembolism PharmGKB 17 Feb 2017 Disease Heart failure NCBI curation C0018801 16 Feb 2016 Finding Heart Failure;Neoplasms PharmGKB 17 Feb 2017 Disease Heart fibrosarcoma MONDO C1332844 MONDO:0003742 17 Apr 2020 Disease Heart leiomyosarcoma MONDO C1332848 MONDO:0003353 17 Apr 2020 Disease Heart lipoma MONDO C1332849 MONDO:0003841 17 Apr 2020 Disease Heart lymphoma MONDO C1332850 MONDO:0003917 17 Apr 2020 Disease Heart malignant hemangiopericytoma MONDO C1334567 MONDO:0003743 17 Apr 2020 Disease Heart murmur Human Phenotype Ontology C0018808 HP:0030148 16 Feb 2016 Finding Heart murmur/mild superpulmonary stenosis CN235258 19 Feb 2016 Finding Heart neoplasm MONDO MONDO:0021209 17 Apr 2020 Disease Heart position anomaly MONDO CN227846 MONDO:0020284 17 Apr 2020 Disease heart transplantation PharmGKB CN236683 06 Jul 2018 Disease heart transplantation;hemopoietic stem cell transplant;Kidney Transplantation;lung transplantation PharmGKB 17 Feb 2017 Disease Heart tumor 16 Feb 2016 Disease Heart, malformation of NCBI curation C0018798 140500 24 Aug 2016 Disease Heart, malformation of NCBI curation C0018798 234750 24 Aug 2016 Disease Heart-hand syndrome type 2 MONDO C2931323 MONDO:0015284 22 Apr 2020 Disease Heart-hand syndrome type 3 MONDO C1841657 MONDO:0007702 140450 17 Apr 2020 Disease Heart-hand syndrome, Slovenian type C1857829 610140 16 Feb 2016 Disease Heartwater disease MONDO C0018835 MONDO:0006780 04 Jun 2020 Infectious disease Heat intolerance Human Phenotype Ontology C0231274 HP:0002046 16 Feb 2016 Finding Heavy chain disease MONDO C0018852 MONDO:0019464 17 Apr 2020 Disease Heavy metal poisoning 16 Feb 2016 Disease Heavy proteinuria Human Phenotype Ontology C4022830 HP:0012597 16 Feb 2016 Finding Heavy supraorbital ridges Human Phenotype Ontology C1845107 HP:0002054 16 Feb 2016 Finding Heavy-chain paraproteinemia Human Phenotype Ontology C4476930 HP:0031049 04 Apr 2018 Finding Heberden nodes NCBI curation 16 Feb 2016 Disease Heberden's node Human Phenotype Ontology C0018862 HP:0012313 16 Feb 2016 Finding HEC syndrome C1833607 600559 16 Feb 2016 Disease Hecht Scott syndrome 16 Feb 2016 Disease Hecht syndrome C0265226 158300 16 Feb 2016 Disease Heel spur MONDO C0158322 MONDO:0002209 17 Apr 2020 Disease Heimler syndrome 2 NCBI curation C4225267 616617 16 Feb 2016 Disease Heiner syndrome MONDO C3873343 MONDO:0020554 17 Apr 2020 Disease Heinz body anemia Orphanet C0700299 ORPHA178330 140700 16 Feb 2016 Disease Heinz body anemia Human Phenotype Ontology C0700299 HP:0005511 140700 16 Feb 2016 Disease Helicobacter pylori infection Human Phenotype Ontology C0850666 HP:0005202 16 Feb 2016 Finding Helicobacter pylori infection, susceptibility to NCBI curation C1838332 600263 16 Feb 2016 Disease Helicobacter pylori infectious disease MONDO CN281655 MONDO:0006781 04 Jun 2020 Infectious disease Heliotrope rash Human Phenotype Ontology C4477048 HP:0040324 04 Apr 2018 Finding Heliotrope rash of eyelid Human Phenotype Ontology C4280745 HP:0030845 02 Apr 2017 Finding HELIX SYNDROME OMIM C4522164 617671 617671 17 Sep 2017 Disease HELLP syndrome C0162739 16 Feb 2016 Disease Helminthiasis C0018889 16 Feb 2016 Infectious disease Helminthiasis, animal MONDO C0018891 MONDO:0025082 04 Jun 2020 Infectious disease Helsmoortel-Van der Aa Syndrome NCBI curation C4014538 615873 15 Jul 2019 Disease Hemangioblastoma Human Phenotype Ontology C0206734 HP:0010797 16 Feb 2016 Disease Hemangioendothelioma C0018915 16 Feb 2016 Disease Hemangioma Human Phenotype Ontology C0018916 HP:0001028 16 Feb 2016 Finding Hemangioma of gingiva MONDO C0582885 MONDO:0021543 17 Apr 2020 Disease Hemangioma of lung MONDO MONDO:0003194 17 Apr 2020 Disease Hemangioma of orbit MONDO C1335128 MONDO:0001974 17 Apr 2020 Disease Hemangioma of peripheral nerve MONDO C1333956 MONDO:0003154 17 Apr 2020 Disease Hemangioma of retina MONDO C0154051 MONDO:0021541 17 Apr 2020 Disease Hemangioma of skin and subcutaneous tissue C0154049 18 Jan 2019 Finding Hemangioma of subcutaneous tissue MONDO C0685200 MONDO:0006557 17 Apr 2020 Disease Hemangioma of the lip Human Phenotype Ontology C4531086 HP:0031490 04 Apr 2018 Finding Hemangioma, capillary infantile NCBI curation C1865871 602089 16 Feb 2016 Disease hemangiomas 05 Sep 2019 Finding Hemangiomas of small intestine NCBI curation C1841654 140900 16 Feb 2016 Disease Hemangiomatosis Human Phenotype Ontology C1384590 HP:0007461 16 Feb 2016 Finding Hemangiomatosis, cutaneous, with associated features NCBI curation C0220738 234800 16 Feb 2016 Disease Hemangiopericytic tumor MONDO C0476144 MONDO:0002789 17 Apr 2020 Disease Hemangiopericytoma C0018922 16 Feb 2016 Disease Hemangiopericytoma of skin MONDO C0346084 MONDO:0021424 17 Apr 2020 Disease Hemangiopericytoma, malignant NCBI curation C0334542 234820 16 Feb 2016 Disease Hematemesis Human Phenotype Ontology C0018926 HP:0002248 16 Feb 2016 Finding Hematocele of tunica vaginalis testis MONDO MONDO:0001495 17 Apr 2020 Disease Hematochezia Human Phenotype Ontology C0018932 HP:0002573 16 Feb 2016 Finding Hematocrit/hemoglobin quantitative trait locus 1 NCBI curation C1969258 609319 16 Feb 2016 Disease Hematocrit/hemoglobin quantitative trait locus 2 NCBI curation C1969257 609320 16 Feb 2016 Disease Hematocrit/hemoglobin quantitative trait locus 3 NCBI curation C2750092 613284 16 Feb 2016 Disease Hematohidrosis MONDO C0473554 MONDO:0023679 17 Apr 2020 Disease Hematologic (adult onset) 13 Apr 2018 Finding Hematologic (child onset) CN232542 16 Feb 2016 Finding Hematologic disorders C0018939 20 Mar 2018 Disease Hematologic neoplasm NCBI curation C0376545 16 Feb 2016 Disease Hematologic phenotype CN230741 16 Feb 2016 Finding Hematological disease associated with an acquired peripheral neuropathy MONDO CN200930 MONDO:0016180 17 Apr 2020 Disease Hematological disorder with renal involvement MONDO CN227684 MONDO:0019747 17 Apr 2020 Disease hematological disorders and malignancies CN882913 22 Mar 2018 Disease Hematological malignancies CN882911 22 Mar 2018 Disease Hematology CN282558 17 Jun 2020 Pharmacological response Hematopoietic and lymphoid cell neoplasm MONDO C0376544 MONDO:0044881 17 Apr 2020 Disease Hematopoietic and lymphoid system neoplasm MONDO C1512393 MONDO:0002334 17 Apr 2020 Disease Hematopoietic stem cell kinetics, control of NCBI curation C1848046 300129 16 Feb 2016 Disease Hematuria Human Phenotype Ontology C0018965 HP:0000790 16 Feb 2016 Finding Heme oxygenase 1 deficiency NCBI curation C1841651 614034 16 Feb 2016 Disease Hemeralopia Human Phenotype Ontology C0018975 HP:0012047 16 Feb 2016 Finding Hemeralopia, congenital essential 16 Feb 2016 Disease Hemeralopia, familial 16 Feb 2016 Disease Hemi/homo-phenotype 05 Feb 2019 Finding Hemianopia Human Phenotype Ontology C0018979 HP:0012377 16 Feb 2016 Finding Hemiareflexia Human Phenotype Ontology C4476905 HP:0031004 04 Apr 2018 Finding Hemiatrophy Human Phenotype Ontology C0333662 HP:0100556 16 Feb 2016 Finding Hemiatrophy of lower limb Human Phenotype Ontology C0431934 HP:0100557 16 Feb 2016 Finding Hemiatrophy of upper limb Human Phenotype Ontology C0431814 HP:0100558 16 Feb 2016 Finding Hemiballismus Human Phenotype Ontology C0221169 HP:0100248 16 Feb 2016 Finding Hemiclonic seizures Human Phenotype Ontology C1846620 HP:0006813 16 Feb 2016 Finding Hemicrania continua MONDO C2349425 MONDO:0018615 17 Apr 2020 Disease Hemidystonia MONDO C1960561 MONDO:0000487 17 Apr 2020 Disease Hemidystonia-hemiatrophy syndrome MONDO C4510649 MONDO:0017649 17 Apr 2020 Disease Hemifacial atrophy agenesis of the caudate nucleus 16 Feb 2016 Disease Hemifacial hypertrophy Human Phenotype Ontology C1399354 HP:0005323 133900 04 Apr 2018 Disease Hemifacial hypoplasia Human Phenotype Ontology C4023411 HP:0011332 16 Feb 2016 Finding hemifacial microsomia 19 Jan 2019 Finding Hemifacial myohyperplasia C1847521 606773 16 Feb 2016 Disease Hemifacial seizures Human Phenotype Ontology C4024906 HP:0007332 16 Feb 2016 Finding Hemifacial spasm Human Phenotype Ontology C0278152 HP:0010828 16 Feb 2016 Finding Hemifacial spasm, familial NCBI curation C1841639 141405 16 Feb 2016 Disease hemihyperplasia CN228802 16 Feb 2016 Finding Hemihyperplasia-multiple lipomatosis syndrome MONDO CN202613 MONDO:0017177 17 Apr 2020 Disease Hemihypertrophy C0332890 16 Feb 2016 Disease Hemihypertrophy intestinal web corneal opacity 16 Feb 2016 Disease Hemihypertrophy of lower limb Human Phenotype Ontology C0431928 HP:0100553 16 Feb 2016 Finding Hemihypertrophy of upper limb Human Phenotype Ontology C0431810 HP:0100554 16 Feb 2016 Finding Hemihypertrophy; Capillary hemangioma; Syndactyly 16 Feb 2016 Finding Hemihypotrophy of lower limb Human Phenotype Ontology C1844734 HP:0200053 16 Feb 2016 Finding Hemihypsarrhythmia Human Phenotype Ontology C4023460 HP:0011215 16 Feb 2016 Finding Hemimacroglossia Human Phenotype Ontology C4021947 HP:0100875 16 Feb 2016 Finding Hemimegalencephaly Human Phenotype Ontology C0431391 HP:0007206 16 Feb 2016 Disease Hemimelia MONDO C0018987 MONDO:0016240 17 Apr 2020 Disease Hemiparesis Human Phenotype Ontology C0018989 HP:0001269 16 Feb 2016 Finding Hemiparkinsonism-hemiatrophy syndrome MONDO C4545231 MONDO:0017636 17 Apr 2020 Disease hemipatesis 05 Sep 2019 Finding Hemiplegia Human Phenotype Ontology C0018991 HP:0002301 16 Feb 2016 Finding Hemiplegia-hemiconvulsion-epilepsy syndrome NCBI curation C0549118 29 Aug 2019 Disease Hemiplegia/hemiparesis Human Phenotype Ontology C0375206 HP:0004374 16 Feb 2016 Finding hemiplegic cerebral palsy 05 Sep 2019 Finding Hemiplegic migraine C0270862 16 Feb 2016 Disease Hemisacrum Human Phenotype Ontology C2677632 HP:0009790 02 Apr 2017 Finding Hemivertebrae Human Phenotype Ontology C0265677 HP:0002937 16 Feb 2016 Finding Hemobilia Human Phenotype Ontology C0018994 HP:0100762 16 Feb 2016 Finding Hemochromatosis type 1 NCBI curation C3469186 235200 16 Feb 2016 Disease Hemochromatosis type 2 NCBI curation CN205842 16 Feb 2016 Disease Hemochromatosis type 2A NCBI curation C1865614 602390 16 Feb 2016 Disease Hemochromatosis type 2B NCBI curation C1865616 613313 16 Feb 2016 Disease Hemochromatosis type 3 C1858664 604250 16 Feb 2016 Disease Hemochromatosis type 4 C1853733 606069 16 Feb 2016 Disease Hemochromatosis type 5 NCBI curation CN181217 615517 16 Feb 2016 Disease Hemochromatosis, juvenile, digenic NCBI curation C3150862 16 Feb 2016 Disease Hemochromatosis, type 1, modifier of NCBI curation 16 Feb 2016 Disease Hemochromatosis, type 2a, modifier of NCBI curation 16 Feb 2016 Disease HEMOGLOBIN 'T LANGE LAND 16 Feb 2016 Named protein variant HEMOGLOBIN A(2) ADRIA 16 Feb 2016 Named protein variant HEMOGLOBIN A(2) AGRINIO 16 Feb 2016 Named protein variant HEMOGLOBIN A(2) BABINGA 16 Feb 2016 Named protein variant HEMOGLOBIN A(2) CAMPANIA 16 Feb 2016 Named protein variant HEMOGLOBIN A(2) CANADA 16 Feb 2016 Named protein variant HEMOGLOBIN A(2) CAPRI 16 Feb 2016 Named protein variant HEMOGLOBIN A(2) COBURG 16 Feb 2016 Named protein variant HEMOGLOBIN A(2) CORFU 16 Feb 2016 Named protein variant HEMOGLOBIN A(2) FITZROY 16 Feb 2016 Named protein variant HEMOGLOBIN A(2) FLATBUSH 16 Feb 2016 Named protein variant HEMOGLOBIN A(2) GROVETOWN 16 Feb 2016 Named protein variant HEMOGLOBIN A(2) HONAI 16 Feb 2016 Named protein variant HEMOGLOBIN A(2) INDONESIA 16 Feb 2016 Named protein variant HEMOGLOBIN A(2) LUCANIA 16 Feb 2016 Named protein variant HEMOGLOBIN A(2) MANZANARES 16 Feb 2016 Named protein variant HEMOGLOBIN A(2) MELBOURNE 16 Feb 2016 Named protein variant HEMOGLOBIN A(2) METAPONTO 16 Feb 2016 Named protein variant HEMOGLOBIN A(2) MONREALE 16 Feb 2016 Named protein variant HEMOGLOBIN A(2) NIIGATA 16 Feb 2016 Named protein variant HEMOGLOBIN A(2) NINIVE 16 Feb 2016 Named protein variant HEMOGLOBIN A(2) NYU 16 Feb 2016 Named protein variant HEMOGLOBIN A(2) PARKVILLE 16 Feb 2016 Named protein variant HEMOGLOBIN A(2) PELENDRI 16 Feb 2016 Named protein variant HEMOGLOBIN A(2) PUGLIA 16 Feb 2016 Named protein variant HEMOGLOBIN A(2) ROOSEVELT 16 Feb 2016 Named protein variant HEMOGLOBIN A(2) SANT' ANTIOCO 16 Feb 2016 Named protein variant HEMOGLOBIN A(2) SPHAKIA 16 Feb 2016 Named protein variant HEMOGLOBIN A(2) TROODOS 16 Feb 2016 Named protein variant HEMOGLOBIN A(2) VICTORIA 16 Feb 2016 Named protein variant HEMOGLOBIN A(2) WRENS 16 Feb 2016 Named protein variant HEMOGLOBIN A(2) YIALOUSA 16 Feb 2016 Named protein variant HEMOGLOBIN A(2) YOKOSHIMA 16 Feb 2016 Named protein variant HEMOGLOBIN A(2) ZAGREB 16 Feb 2016 Named protein variant HEMOGLOBIN A(2)-PRIME 16 Feb 2016 Named protein variant HEMOGLOBIN AALBORG 16 Feb 2016 Named protein variant HEMOGLOBIN ABRAHAM LINCOLN 16 Feb 2016 Named protein variant HEMOGLOBIN ABRUZZO 16 Feb 2016 Named protein variant HEMOGLOBIN ADANA 16 Feb 2016 Named protein variant HEMOGLOBIN AGENOGI 16 Feb 2016 Named protein variant HEMOGLOBIN AGHIA SOPHIA 16 Feb 2016 Named protein variant HEMOGLOBIN AGRINIO 16 Feb 2016 Named protein variant HEMOGLOBIN AICHI 16 Feb 2016 Named protein variant HEMOGLOBIN AIDA 16 Feb 2016 Named protein variant HEMOGLOBIN AL-AIN ABU DHABI 16 Feb 2016 Named protein variant HEMOGLOBIN AL-HAMMADI RIYADH 16 Feb 2016 Named protein variant HEMOGLOBIN ALABAMA 16 Feb 2016 Named protein variant HEMOGLOBIN ALAMO 16 Feb 2016 Named protein variant HEMOGLOBIN ALBANY-GEORGIA 16 Feb 2016 Named protein variant HEMOGLOBIN ALBANY-SUMA 16 Feb 2016 Named protein variant HEMOGLOBIN ALBERTA 16 Feb 2016 Named protein variant HEMOGLOBIN ALESHA 16 Feb 2016 Named protein variant HEMOGLOBIN ALPHA VARIANTS, MOLECULAR DEFECT UNKNOWN 16 Feb 2016 Named protein variant HEMOGLOBIN ALTDORF 16 Feb 2016 Named protein variant HEMOGLOBIN ANAMOSA 16 Feb 2016 Named protein variant HEMOGLOBIN ANANTHARAJ 16 Feb 2016 Named protein variant HEMOGLOBIN ANDREW-MINNEAPOLIS 16 Feb 2016 Named protein variant HEMOGLOBIN ANKARA 16 Feb 2016 Named protein variant HEMOGLOBIN ANN ARBOR 16 Feb 2016 Named protein variant HEMOGLOBIN ANTALYA 16 Feb 2016 Named protein variant HEMOGLOBIN ANTANANARIVO 16 Feb 2016 Named protein variant HEMOGLOBIN ARLINGTON PARK 16 Feb 2016 Named protein variant HEMOGLOBIN ARTA 16 Feb 2016 Named protein variant HEMOGLOBIN ARYA 16 Feb 2016 Named protein variant HEMOGLOBIN ASABARA 16 Feb 2016 Named protein variant HEMOGLOBIN ATAGO 16 Feb 2016 Named protein variant HEMOGLOBIN ATHENS-GEORGIA 16 Feb 2016 Named protein variant HEMOGLOBIN ATLANTA 16 Feb 2016 Named protein variant HEMOGLOBIN ATLANTA-COVENTRY 16 Feb 2016 Named protein variant HEMOGLOBIN ATTLEBORO 16 Feb 2016 Named protein variant HEMOGLOBIN AUBAGNE 16 Feb 2016 Named protein variant HEMOGLOBIN AUCKLAND 16 Feb 2016 Named protein variant HEMOGLOBIN AURORA 16 Feb 2016 Named protein variant HEMOGLOBIN AUSTIN 16 Feb 2016 Named protein variant HEMOGLOBIN AVICENNA 16 Feb 2016 Named protein variant HEMOGLOBIN AZTEC 16 Feb 2016 Named protein variant HEMOGLOBIN B(2) 16 Feb 2016 Named protein variant HEMOGLOBIN BAB-SAADOUN 16 Feb 2016 Named protein variant HEMOGLOBIN BADEN 16 Feb 2016 Named protein variant HEMOGLOBIN BARBIZON 16 Feb 2016 Named protein variant HEMOGLOBIN BARCELONA 16 Feb 2016 Named protein variant HEMOGLOBIN BARI 16 Feb 2016 Named protein variant Hemoglobin Barts Human Phenotype Ontology C3539063 HP:0005507 16 Feb 2016 Finding HEMOGLOBIN BAYLOR 16 Feb 2016 Named protein variant HEMOGLOBIN BECKMAN 16 Feb 2016 Named protein variant HEMOGLOBIN BEIJING 16 Feb 2016 Named protein variant HEMOGLOBIN BEILINSON 16 Feb 2016 Named protein variant HEMOGLOBIN BEIRUT 16 Feb 2016 Named protein variant HEMOGLOBIN BELFAST 16 Feb 2016 Named protein variant HEMOGLOBIN BELLIARD 16 Feb 2016 Named protein variant HEMOGLOBIN BEOGRAD 16 Feb 2016 Named protein variant HEMOGLOBIN BETA VARIANTS, MOLECULAR DEFECT UNKNOWN 16 Feb 2016 Named protein variant HEMOGLOBIN BETH ISRAEL 16 Feb 2016 Named protein variant HEMOGLOBIN BETHESDA 16 Feb 2016 Named protein variant HEMOGLOBIN BEZIERS 16 Feb 2016 Named protein variant HEMOGLOBIN BICETRE 16 Feb 2016 Named protein variant HEMOGLOBIN BIRMINGHAM 16 Feb 2016 Named protein variant HEMOGLOBIN BIRMINGHAM (USA) 16 Feb 2016 Named protein variant HEMOGLOBIN BOGHE 16 Feb 2016 Named protein variant HEMOGLOBIN BOIS GUILLAUME 16 Feb 2016 Named protein variant HEMOGLOBIN BOLOGNA 16 Feb 2016 Named protein variant HEMOGLOBIN BOLOGNA-ST. ORSOLA 16 Feb 2016 Named protein variant HEMOGLOBIN BORAS 16 Feb 2016 Named protein variant HEMOGLOBIN BOUGARDIREY-MALI 16 Feb 2016 Named protein variant HEMOGLOBIN BOURMEDES 16 Feb 2016 Named protein variant HEMOGLOBIN BOYLE HEIGHTS 16 Feb 2016 Named protein variant HEMOGLOBIN BREM-SUR-MER 16 Feb 2016 Named protein variant HEMOGLOBIN BRESCIA 16 Feb 2016 Named protein variant HEMOGLOBIN BREST 16 Feb 2016 Named protein variant HEMOGLOBIN BRIE COMTE ROBERT 16 Feb 2016 Named protein variant HEMOGLOBIN BRIGHAM 16 Feb 2016 Named protein variant HEMOGLOBIN BRISBANE 16 Feb 2016 Named protein variant HEMOGLOBIN BRISTOL 16 Feb 2016 Named protein variant HEMOGLOBIN BRITISH COLUMBIA 16 Feb 2016 Named protein variant HEMOGLOBIN BROCKTON 16 Feb 2016 Named protein variant HEMOGLOBIN BROUSSAIS 16 Feb 2016 Named protein variant HEMOGLOBIN BUFFALO 16 Feb 2016 Named protein variant HEMOGLOBIN BUGINESE-X 16 Feb 2016 Named protein variant HEMOGLOBIN BUNBURY 16 Feb 2016 Named protein variant HEMOGLOBIN BURKE 16 Feb 2016 Named protein variant HEMOGLOBIN BUSHEY 16 Feb 2016 Named protein variant HEMOGLOBIN BUSHWICK 16 Feb 2016 Named protein variant HEMOGLOBIN BUZEN 16 Feb 2016 Named protein variant HEMOGLOBIN C 16 Feb 2016 Disease Hemoglobin C disease NCBI curation C0019021 16 Feb 2016 Disease Hemoglobin C-beta-thalassemia syndrome MONDO CN201488 MONDO:0016490 17 Apr 2020 Disease HEMOGLOBIN CAEN 16 Feb 2016 Named protein variant HEMOGLOBIN CAGLIARI 16 Feb 2016 Named protein variant HEMOGLOBIN CALAIS 16 Feb 2016 Named protein variant HEMOGLOBIN CAMDEN 16 Feb 2016 Named protein variant HEMOGLOBIN CAMPERDOWN 16 Feb 2016 Named protein variant HEMOGLOBIN CAMPINAS 16 Feb 2016 Named protein variant HEMOGLOBIN CANTERBURY 16 Feb 2016 Named protein variant HEMOGLOBIN CAPA 16 Feb 2016 Named protein variant HEMOGLOBIN CARDARELLI 16 Feb 2016 Named protein variant HEMOGLOBIN CARIBBEAN 16 Feb 2016 Named protein variant HEMOGLOBIN CASABLANCA 16 Feb 2016 Named protein variant HEMOGLOBIN CASPER 16 Feb 2016 Named protein variant HEMOGLOBIN CASTILLA 16 Feb 2016 Named protein variant HEMOGLOBIN CATONSVILLE 16 Feb 2016 Named protein variant HEMOGLOBIN CEMENELUM 16 Feb 2016 Named protein variant HEMOGLOBIN CHAD 16 Feb 2016 Named protein variant HEMOGLOBIN CHANDIGARH 16 Feb 2016 Named protein variant HEMOGLOBIN CHAPEL HILL 16 Feb 2016 Named protein variant HEMOGLOBIN CHAROLLES 16 Feb 2016 Named protein variant HEMOGLOBIN CHARTRES 16 Feb 2016 Named protein variant HEMOGLOBIN CHEMILLY 16 Feb 2016 Named protein variant HEMOGLOBIN CHESAPEAKE 16 Feb 2016 Named protein variant HEMOGLOBIN CHESTERFIELD 16 Feb 2016 Named protein variant HEMOGLOBIN CHEVERLY 16 Feb 2016 Named protein variant HEMOGLOBIN CHIAPAS 16 Feb 2016 Named protein variant HEMOGLOBIN CHIBA 16 Feb 2016 Named protein variant HEMOGLOBIN CHICAGO 16 Feb 2016 Named protein variant HEMOGLOBIN CHICO 16 Feb 2016 Named protein variant HEMOGLOBIN CHILE 16 Feb 2016 Named protein variant HEMOGLOBIN CHONGQING 16 Feb 2016 Named protein variant HEMOGLOBIN CHRISTCHURCH 16 Feb 2016 Named protein variant HEMOGLOBIN CITY OF HOPE 16 Feb 2016 Named protein variant HEMOGLOBIN CLEVELAND 16 Feb 2016 Named protein variant HEMOGLOBIN CLINICO-MADRID 16 Feb 2016 Named protein variant HEMOGLOBIN COCHIN-PORT ROYAL 16 Feb 2016 Named protein variant HEMOGLOBIN COCODY 16 Feb 2016 Named protein variant HEMOGLOBIN COIMBRA 16 Feb 2016 Named protein variant HEMOGLOBIN COLIMA 16 Feb 2016 Named protein variant HEMOGLOBIN COLLINGWOOD 16 Feb 2016 Named protein variant HEMOGLOBIN COLUMBIA MISSOURI 16 Feb 2016 Named protein variant HEMOGLOBIN COMPLUTENSE 16 Feb 2016 Named protein variant HEMOGLOBIN CONAKRY 16 Feb 2016 Named protein variant HEMOGLOBIN CONNECTICUT 16 Feb 2016 Named protein variant Hemoglobin constant spring NCBI curation C3891114 16 Feb 2016 Named protein variant HEMOGLOBIN CONTALDO 16 Feb 2016 Named protein variant HEMOGLOBIN CORDELE 16 Feb 2016 Named protein variant HEMOGLOBIN COSTA RICA 16 Feb 2016 Named protein variant HEMOGLOBIN COVENTRY 16 Feb 2016 Named protein variant HEMOGLOBIN COWTOWN 16 Feb 2016 Named protein variant HEMOGLOBIN CRANSTON 16 Feb 2016 Named protein variant HEMOGLOBIN CRETE 16 Feb 2016 Named protein variant HEMOGLOBIN CRETEIL 16 Feb 2016 Named protein variant HEMOGLOBIN D (AGRI) 16 Feb 2016 Named protein variant HEMOGLOBIN D (BALTIMORE) 16 Feb 2016 Named protein variant HEMOGLOBIN D (BUSHMAN) 16 Feb 2016 Named protein variant HEMOGLOBIN D (CAMPERDOWN) 16 Feb 2016 Named protein variant HEMOGLOBIN D (GRANADA) 16 Feb 2016 Named protein variant HEMOGLOBIN D (IBADAN) 16 Feb 2016 Named protein variant HEMOGLOBIN D (IRAN) 16 Feb 2016 Named protein variant HEMOGLOBIN D (NEATH) 16 Feb 2016 Named protein variant HEMOGLOBIN D (OULED RABAH) 16 Feb 2016 Named protein variant HEMOGLOBIN D (ST. LOUIS) 16 Feb 2016 Named protein variant HEMOGLOBIN D (WASHINGTON) 16 Feb 2016 Named protein variant Hemoglobin D disease MONDO C0272080 MONDO:0019537 17 Apr 2020 Disease HEMOGLOBIN DAGESTAN 16 Feb 2016 Named protein variant HEMOGLOBIN DAKAR 16 Feb 2016 Named protein variant HEMOGLOBIN DALLAS 16 Feb 2016 Named protein variant HEMOGLOBIN DANESHGAH-TEHRAN 16 Feb 2016 Named protein variant HEMOGLOBIN DARTMOUTH 16 Feb 2016 Named protein variant HEMOGLOBIN DAVENPORT 16 Feb 2016 Named protein variant HEMOGLOBIN DEACONESS 16 Feb 2016 Named protein variant HEMOGLOBIN DEBROUSSE 16 Feb 2016 Named protein variant HEMOGLOBIN DECINES-CHARPIEU 16 Feb 2016 Named protein variant HEMOGLOBIN DEER LODGE 16 Feb 2016 Named protein variant HEMOGLOBIN DELFZICHT 16 Feb 2016 Named protein variant HEMOGLOBIN DELTA VARIANTS, MOLECULAR DEFECT UNKNOWN 16 Feb 2016 Named protein variant HEMOGLOBIN DENMARK HILL 16 Feb 2016 Named protein variant HEMOGLOBIN DENVER 16 Feb 2016 Named protein variant HEMOGLOBIN DETROIT 16 Feb 2016 Named protein variant HEMOGLOBIN DIE 16 Feb 2016 Named protein variant HEMOGLOBIN DIEPPE 16 Feb 2016 Named protein variant HEMOGLOBIN DJELFA 16 Feb 2016 Named protein variant HEMOGLOBIN DOHA 16 Feb 2016 Named protein variant HEMOGLOBIN DOUALA 16 Feb 2016 Named protein variant HEMOGLOBIN DRENTHE 16 Feb 2016 Named protein variant HEMOGLOBIN DUAN 16 Feb 2016 Named protein variant HEMOGLOBIN DUARTE 16 Feb 2016 Named protein variant HEMOGLOBIN DUINO 16 Feb 2016 Named protein variant HEMOGLOBIN DUNN 16 Feb 2016 Named protein variant HEMOGLOBIN DURHAM-N.C. 16 Feb 2016 Named protein variant Hemoglobin E NCBI curation C0019024 16 Feb 2016 Named protein variant HEMOGLOBIN E (SASKATOON) 16 Feb 2016 Named protein variant Hemoglobin E disease NCBI curation C0238159 16 Feb 2016 Disease Hemoglobin E/beta thalassemia disease NCBI curation C0472777 16 Feb 2016 Disease HEMOGLOBIN EDMONTON 16 Feb 2016 Named protein variant HEMOGLOBIN EGYPT 16 Feb 2016 Named protein variant HEMOGLOBIN ERNZ 16 Feb 2016 Named protein variant HEMOGLOBIN ETHIOPIA 16 Feb 2016 Named protein variant HEMOGLOBIN ETOBICOKE 16 Feb 2016 Named protein variant HEMOGLOBIN EVANS 16 Feb 2016 Named protein variant HEMOGLOBIN EVANSTON 16 Feb 2016 Named protein variant HEMOGLOBIN EXTREMADURA 16 Feb 2016 Named protein variant HEMOGLOBIN F (ALBAICIN) 16 Feb 2016 Named protein variant HEMOGLOBIN F (AUCKLAND) 16 Feb 2016 Named protein variant HEMOGLOBIN F (AUSTELL) 16 Feb 2016 Named protein variant HEMOGLOBIN F (BASKENT) 16 Feb 2016 Named protein variant HEMOGLOBIN F (BEECH ISLAND) 16 Feb 2016 Named protein variant HEMOGLOBIN F (BONAIRE) 16 Feb 2016 Named protein variant HEMOGLOBIN F (BROOKLYN) 16 Feb 2016 Named protein variant HEMOGLOBIN F (CALABRIA) 16 Feb 2016 Named protein variant HEMOGLOBIN F (CALLUNA) 16 Feb 2016 Named protein variant HEMOGLOBIN F (CALTECH) 16 Feb 2016 Named protein variant HEMOGLOBIN F (CARLTON) 16 Feb 2016 Named protein variant HEMOGLOBIN F (CATALONIA) 16 Feb 2016 Named protein variant HEMOGLOBIN F (CHARLOTTE) 16 Feb 2016 Named protein variant HEMOGLOBIN F (CLAMART) 16 Feb 2016 Named protein variant HEMOGLOBIN F (CLARKE) 16 Feb 2016 Named protein variant HEMOGLOBIN F (COBB) 16 Feb 2016 Named protein variant HEMOGLOBIN F (COLUMBUS-GA) 16 Feb 2016 Named protein variant HEMOGLOBIN F (COSENZA) 16 Feb 2016 Named protein variant HEMOGLOBIN F (DAMMAM) 16 Feb 2016 Named protein variant HEMOGLOBIN F (DICKINSON) 16 Feb 2016 Named protein variant HEMOGLOBIN F (EMIRATES) 16 Feb 2016 Named protein variant HEMOGLOBIN F (FOREST PARK) 16 Feb 2016 Named protein variant HEMOGLOBIN F (FUCHU) 16 Feb 2016 Named protein variant HEMOGLOBIN F (FUKUYAMA) 16 Feb 2016 Named protein variant HEMOGLOBIN F (GRANADA) 16 Feb 2016 Named protein variant HEMOGLOBIN F (HEATHER) 16 Feb 2016 Named protein variant HEMOGLOBIN F (HULL) 16 Feb 2016 Named protein variant HEMOGLOBIN F (IWATA) 16 Feb 2016 Named protein variant HEMOGLOBIN F (IZUMI) 16 Feb 2016 Named protein variant HEMOGLOBIN F (JAMAICA) 16 Feb 2016 Named protein variant HEMOGLOBIN F (JIANGSU) 16 Feb 2016 Named protein variant HEMOGLOBIN F (KENNESTONE) 16 Feb 2016 Named protein variant HEMOGLOBIN F (KINGSTON) 16 Feb 2016 Named protein variant HEMOGLOBIN F (KOELLIKER) 16 Feb 2016 Named protein variant HEMOGLOBIN F (KOTOBUKI) 16 Feb 2016 Named protein variant HEMOGLOBIN F (KUALA LUMPUR) 16 Feb 2016 Named protein variant HEMOGLOBIN F (LA GRANGE) 16 Feb 2016 Named protein variant HEMOGLOBIN F (LESVOS) 16 Feb 2016 Named protein variant HEMOGLOBIN F (LODZ) 16 Feb 2016 Named protein variant HEMOGLOBIN F (MACEDONIA II) 16 Feb 2016 Named protein variant HEMOGLOBIN F (MACEDONIA-I) 16 Feb 2016 Named protein variant HEMOGLOBIN F (MALAYSIA) 16 Feb 2016 Named protein variant HEMOGLOBIN F (MALTA) 16 Feb 2016 Named protein variant HEMOGLOBIN F (MARIETTA) 16 Feb 2016 Named protein variant HEMOGLOBIN F (MEINOHAMA) 16 Feb 2016 Named protein variant HEMOGLOBIN F (MELBOURNE) 16 Feb 2016 Named protein variant HEMOGLOBIN F (MINOO) 16 Feb 2016 Named protein variant HEMOGLOBIN F (OAKLAND) 16 Feb 2016 Named protein variant HEMOGLOBIN F (ONODA) 16 Feb 2016 Named protein variant HEMOGLOBIN F (OULED RABAH) 16 Feb 2016 Named protein variant HEMOGLOBIN F (PENDERGRASS) 16 Feb 2016 Named protein variant HEMOGLOBIN F (POOLE) 16 Feb 2016 Named protein variant HEMOGLOBIN F (PORDENONE) 16 Feb 2016 Named protein variant HEMOGLOBIN F (PORT ROYAL) 16 Feb 2016 Named protein variant HEMOGLOBIN F (PORTO TORRES) 16 Feb 2016 Named protein variant HEMOGLOBIN F (SACROMONTE) 16 Feb 2016 Named protein variant HEMOGLOBIN F (SARDINIA) 16 Feb 2016 Named protein variant HEMOGLOBIN F (SHANGHAI) 16 Feb 2016 Named protein variant HEMOGLOBIN F (SIENA) 16 Feb 2016 Named protein variant HEMOGLOBIN F (TEXAS I) 16 Feb 2016 Named protein variant HEMOGLOBIN F (TOKYO) 16 Feb 2016 Named protein variant HEMOGLOBIN F (URUMQI) 16 Feb 2016 Named protein variant HEMOGLOBIN F (VELETA) 16 Feb 2016 Named protein variant HEMOGLOBIN F (VICTORIA JUBILEE) 16 Feb 2016 Named protein variant HEMOGLOBIN F (WAYNESBORO) 16 Feb 2016 Named protein variant HEMOGLOBIN F (WOODSTOCK) 16 Feb 2016 Named protein variant HEMOGLOBIN F (XIN-SU) 16 Feb 2016 Named protein variant HEMOGLOBIN F (XINJIANG) 16 Feb 2016 Named protein variant HEMOGLOBIN F (YAMAGUCHI) 16 Feb 2016 Named protein variant HEMOGLOBIN FANNIN-LUBBOCK 16 Feb 2016 Named protein variant HEMOGLOBIN FERNDOWN 16 Feb 2016 Named protein variant HEMOGLOBIN FLATBUSH (GEORGIA) 16 Feb 2016 Named protein variant HEMOGLOBIN FONTAINEBLEAU 16 Feb 2016 Named protein variant HEMOGLOBIN FORT DE FRANCE 16 Feb 2016 Named protein variant HEMOGLOBIN FORT GORDON 16 Feb 2016 Named protein variant HEMOGLOBIN FORT WORTH 16 Feb 2016 Named protein variant HEMOGLOBIN FUCHU-I 16 Feb 2016 Named protein variant HEMOGLOBIN FUCHU-II 16 Feb 2016 Named protein variant HEMOGLOBIN FUKUI 16 Feb 2016 Named protein variant HEMOGLOBIN FUKUOKA 16 Feb 2016 Named protein variant HEMOGLOBIN FUKUTOMI 16 Feb 2016 Named protein variant HEMOGLOBIN FUKUYAMA 16 Feb 2016 Named protein variant HEMOGLOBIN G (ACCRA) 16 Feb 2016 Named protein variant HEMOGLOBIN G (AUDHALI) 16 Feb 2016 Named protein variant HEMOGLOBIN G (AZAKUOLI) 16 Feb 2016 Named protein variant HEMOGLOBIN G (BRISTOL) 16 Feb 2016 Named protein variant HEMOGLOBIN G (CHINESE) 16 Feb 2016 Named protein variant HEMOGLOBIN G (COPENHAGEN) 16 Feb 2016 Named protein variant HEMOGLOBIN G (COUSHATTA) 16 Feb 2016 Named protein variant HEMOGLOBIN G (FERRARA) 16 Feb 2016 Named protein variant HEMOGLOBIN G (FORT WORTH) 16 Feb 2016 Named protein variant HEMOGLOBIN G (GALVESTON) 16 Feb 2016 Named protein variant HEMOGLOBIN G (GEORGIA) 16 Feb 2016 Named protein variant HEMOGLOBIN G (HONG KONG) 16 Feb 2016 Named protein variant HEMOGLOBIN G (HONOLULU) 16 Feb 2016 Named protein variant HEMOGLOBIN G (HSI-TSOU) 16 Feb 2016 Named protein variant HEMOGLOBIN G (HSIN-CHU) 16 Feb 2016 Named protein variant HEMOGLOBIN G (KNOXVILLE) 16 Feb 2016 Named protein variant HEMOGLOBIN G (MAKASSAR) 16 Feb 2016 Named protein variant HEMOGLOBIN G (NORFOLK) 16 Feb 2016 Named protein variant HEMOGLOBIN G (PEST) 16 Feb 2016 Named protein variant HEMOGLOBIN G (PHILADELPHIA) 16 Feb 2016 Named protein variant HEMOGLOBIN G (PORT ARTHUR) 16 Feb 2016 Named protein variant HEMOGLOBIN G (SAN JOSE) 16 Feb 2016 Named protein variant HEMOGLOBIN G (SASKATOON) 16 Feb 2016 Named protein variant HEMOGLOBIN G (SINGAPORE) 16 Feb 2016 Named protein variant HEMOGLOBIN G (SZUHU) 16 Feb 2016 Named protein variant HEMOGLOBIN G (TAEGU) 16 Feb 2016 Named protein variant HEMOGLOBIN G (TAICHUNG) 16 Feb 2016 Named protein variant HEMOGLOBIN G (TAIPEI) 16 Feb 2016 Named protein variant HEMOGLOBIN G (TAIWAN-AMI) 16 Feb 2016 Named protein variant HEMOGLOBIN G (TEXAS) 16 Feb 2016 Named protein variant HEMOGLOBIN G (WAIMANALO) 16 Feb 2016 Named protein variant HEMOGLOBIN GAINESVILLE-GA 16 Feb 2016 Named protein variant HEMOGLOBIN GALICIA 16 Feb 2016 Named protein variant HEMOGLOBIN GARDEN STATE 16 Feb 2016 Named protein variant HEMOGLOBIN GAVELLO 16 Feb 2016 Named protein variant HEMOGLOBIN GEELONG 16 Feb 2016 Named protein variant HEMOGLOBIN GELDROP ST. ANNA 16 Feb 2016 Named protein variant HEMOGLOBIN GENOVA 16 Feb 2016 Named protein variant HEMOGLOBIN GERLAND 16 Feb 2016 Named protein variant HEMOGLOBIN GIFU 16 Feb 2016 Named protein variant HEMOGLOBIN GODAVARI 16 Feb 2016 Named protein variant HEMOGLOBIN GOTHENBURG 16 Feb 2016 Named protein variant HEMOGLOBIN GOUDA 16 Feb 2016 Named protein variant HEMOGLOBIN GRADY 16 Feb 2016 Named protein variant HEMOGLOBIN GRANGE-BLANCHE 16 Feb 2016 Named protein variant HEMOGLOBIN GRAZ 16 Feb 2016 Named protein variant HEMOGLOBIN GREAT LAKES 16 Feb 2016 Named protein variant HEMOGLOBIN GRENOBLE 16 Feb 2016 Named protein variant HEMOGLOBIN GUANGZHOU 16 Feb 2016 Named protein variant HEMOGLOBIN GUIZHOU 16 Feb 2016 Named protein variant HEMOGLOBIN GUN HILL 16 Feb 2016 Named protein variant Hemoglobin H disease MONDO C3161174 MONDO:0013512 613978 17 Apr 2020 Disease Hemoglobin H disease, nondeletional NCBI curation CN077787 16 Feb 2016 Disease HEMOGLOBIN H HYDROPS FETALIS SYNDROME NCBI curation C3278365 16 Feb 2016 Named protein variant HEMOGLOBIN HACETTEPE 16 Feb 2016 Named protein variant HEMOGLOBIN HAFNIA 16 Feb 2016 Named protein variant HEMOGLOBIN HAKKARI 16 Feb 2016 Named protein variant HEMOGLOBIN HAMADAN 16 Feb 2016 Named protein variant HEMOGLOBIN HAMILTON 16 Feb 2016 Named protein variant HEMOGLOBIN HAMMERSMITH 16 Feb 2016 Named protein variant HEMOGLOBIN HANA 16 Nov 2019 Disease HEMOGLOBIN HANAMAKI 16 Feb 2016 Named protein variant HEMOGLOBIN HANDA 16 Feb 2016 Named protein variant HEMOGLOBIN HANDSWORTH 16 Feb 2016 Named protein variant HEMOGLOBIN HANGZHOU 16 Feb 2016 Named protein variant HEMOGLOBIN HARBIN 16 Feb 2016 Named protein variant HEMOGLOBIN HARROW 16 Feb 2016 Named protein variant HEMOGLOBIN HASHARON 16 Feb 2016 Named protein variant HEMOGLOBIN HAZEBROUCK 16 Feb 2016 Named protein variant HEMOGLOBIN HEATHROW 16 Feb 2016 Named protein variant HEMOGLOBIN HEKINAN 16 Feb 2016 Named protein variant HEMOGLOBIN HELSINKI 16 Feb 2016 Named protein variant HEMOGLOBIN HENRI MONDOR 16 Feb 2016 Named protein variant HEMOGLOBIN HIGASHITOCHIGI 16 Feb 2016 Named protein variant HEMOGLOBIN HIJIYAMA 16 Feb 2016 Named protein variant HEMOGLOBIN HIKARI 16 Feb 2016 Named protein variant HEMOGLOBIN HIKOSHIMA 16 Feb 2016 Named protein variant HEMOGLOBIN HIMEJI 16 Feb 2016 Named protein variant HEMOGLOBIN HINSDALE 16 Feb 2016 Named protein variant HEMOGLOBIN HINWIL 16 Feb 2016 Named protein variant HEMOGLOBIN HIROSAKI 16 Feb 2016 Named protein variant HEMOGLOBIN HIROSE 16 Feb 2016 Named protein variant HEMOGLOBIN HIROSHIMA 16 Feb 2016 Named protein variant HEMOGLOBIN HOBART 16 Feb 2016 Named protein variant HEMOGLOBIN HOFU 16 Feb 2016 Named protein variant HEMOGLOBIN HOKUSETSU 16 Feb 2016 Named protein variant HEMOGLOBIN HOPKINS 1 16 Feb 2016 Named protein variant HEMOGLOBIN HOPKINS 2 16 Feb 2016 Named protein variant HEMOGLOBIN HOTEL-DIEU 16 Feb 2016 Named protein variant HEMOGLOBIN HOWICK 16 Feb 2016 Named protein variant HEMOGLOBIN HT 16 Feb 2016 Named protein variant HEMOGLOBIN HYOGO 16 Feb 2016 Named protein variant HEMOGLOBIN I 16 Feb 2016 Named protein variant HEMOGLOBIN I (BURLINGTON) 16 Feb 2016 Named protein variant HEMOGLOBIN I (HIGH WYCOMBE) 16 Feb 2016 Named protein variant HEMOGLOBIN I (INTERLAKEN) 16 Feb 2016 Named protein variant HEMOGLOBIN I (PHILADELPHIA) 16 Feb 2016 Named protein variant HEMOGLOBIN I (SKAMANIA) 16 Feb 2016 Named protein variant HEMOGLOBIN I (TEXAS) 16 Feb 2016 Named protein variant HEMOGLOBIN ICARIA 16 Feb 2016 Named protein variant HEMOGLOBIN ILMENAU 16 Feb 2016 Named protein variant HEMOGLOBIN INDIANAPOLIS 16 Feb 2016 Named protein variant HEMOGLOBIN INKSTER 16 Feb 2016 Named protein variant HEMOGLOBIN IOWA 16 Feb 2016 Named protein variant HEMOGLOBIN IRAQ-HALABJA 16 Feb 2016 Named protein variant HEMOGLOBIN ISTANBUL 16 Feb 2016 Disease HEMOGLOBIN IWATA 16 Feb 2016 Named protein variant HEMOGLOBIN J 16 Feb 2016 Named protein variant HEMOGLOBIN J (ABIDJAN) 16 Feb 2016 Named protein variant HEMOGLOBIN J (ALJEZUR) 16 Feb 2016 Named protein variant HEMOGLOBIN J (ALTGELD GARDENS) 16 Feb 2016 Named protein variant HEMOGLOBIN J (AMIENS) NCBI curation 16 Feb 2016 Named protein variant HEMOGLOBIN J (ANATOLIA) 16 Feb 2016 Named protein variant HEMOGLOBIN J (ANTAKYA) 16 Feb 2016 Named protein variant HEMOGLOBIN J (AUCKLAND) 16 Feb 2016 Named protein variant HEMOGLOBIN J (BALTIMORE) 16 Feb 2016 Named protein variant HEMOGLOBIN J (BARI) 16 Feb 2016 Named protein variant HEMOGLOBIN J (BIRMINGHAM) 16 Feb 2016 Named protein variant HEMOGLOBIN J (BISKRA) 16 Feb 2016 Named protein variant HEMOGLOBIN J (BROUSSAIS) 16 Feb 2016 Named protein variant HEMOGLOBIN J (BUDA) 16 Feb 2016 Named protein variant HEMOGLOBIN J (CAIRO) 16 Feb 2016 Named protein variant HEMOGLOBIN J (CALABRIA) 16 Feb 2016 Named protein variant HEMOGLOBIN J (CAMAGUEY) 16 Feb 2016 Named protein variant HEMOGLOBIN J (CAPE TOWN) 16 Feb 2016 Named protein variant HEMOGLOBIN J (CHICAGO) 16 Feb 2016 Named protein variant HEMOGLOBIN J (CORDOBA) 16 Feb 2016 Named protein variant HEMOGLOBIN J (COSENZA) 16 Feb 2016 Named protein variant HEMOGLOBIN J (CUBUJUQUI) 16 Feb 2016 Named protein variant HEMOGLOBIN J (DALOA) 16 Feb 2016 Named protein variant HEMOGLOBIN J (EUROPA) 16 Feb 2016 Named protein variant HEMOGLOBIN J (GUANTANAMO) 16 Feb 2016 Named protein variant HEMOGLOBIN J (HABANA) 16 Feb 2016 Named protein variant HEMOGLOBIN J (IRAN) 16 Feb 2016 Named protein variant HEMOGLOBIN J (KUROSH) 16 Feb 2016 Named protein variant HEMOGLOBIN J (LENS) 16 Feb 2016 Named protein variant HEMOGLOBIN J (LOME) 16 Feb 2016 Named protein variant HEMOGLOBIN J (LUHE) 16 Feb 2016 Named protein variant HEMOGLOBIN J (MEDELLIN) 16 Feb 2016 Named protein variant HEMOGLOBIN J (MEERUT) 16 Feb 2016 Named protein variant HEMOGLOBIN J (MEXICO) 16 Feb 2016 Named protein variant HEMOGLOBIN J (NORFOLK) 16 Feb 2016 Named protein variant HEMOGLOBIN J (NYANZA) 16 Feb 2016 Named protein variant HEMOGLOBIN J (OXFORD) 16 Feb 2016 Named protein variant HEMOGLOBIN J (PARIS 1) 16 Feb 2016 Named protein variant HEMOGLOBIN J (PARIS 2) 16 Feb 2016 Named protein variant HEMOGLOBIN J (PONTOISE) 16 Feb 2016 Named protein variant HEMOGLOBIN J (RAJAPPEN) 16 Feb 2016 Named protein variant HEMOGLOBIN J (ROVIGO) 16 Feb 2016 Named protein variant HEMOGLOBIN J (SARDEGNA) 16 Feb 2016 Named protein variant HEMOGLOBIN J (SICILIA) 16 Feb 2016 Named protein variant HEMOGLOBIN J (SINGA) 16 Feb 2016 Named protein variant HEMOGLOBIN J (SINGAPORE) 16 Feb 2016 Named protein variant HEMOGLOBIN J (TAICHUNG) 16 Feb 2016 Named protein variant HEMOGLOBIN J (TASHIKUERGAN) 16 Feb 2016 Named protein variant HEMOGLOBIN J (TONGARIKI) 16 Feb 2016 Named protein variant HEMOGLOBIN J (TORONTO) 16 Feb 2016 Named protein variant HEMOGLOBIN J (WENCHANG-WUMING) 16 Feb 2016 Named protein variant HEMOGLOBIN JACKSON 16 Feb 2016 Named protein variant HEMOGLOBIN JACKSONVILLE 16 Feb 2016 Named protein variant HEMOGLOBIN JAMAICA PLAIN 16 Feb 2016 Named protein variant HEMOGLOBIN JENKINS 16 Feb 2016 Named protein variant HEMOGLOBIN JIANGHUA 16 Feb 2016 Named protein variant HEMOGLOBIN JINAN 16 Feb 2016 Named protein variant HEMOGLOBIN JOHNSTOWN 16 Feb 2016 Named protein variant HEMOGLOBIN K (CAMEROON) 16 Feb 2016 Named protein variant HEMOGLOBIN K (IBADAN) 16 Feb 2016 Named protein variant HEMOGLOBIN K (WOOLWICH) 16 Feb 2016 Named protein variant HEMOGLOBIN KAGOSHIMA 16 Feb 2016 Named protein variant HEMOGLOBIN KANAGAWA 16 Feb 2016 Named protein variant HEMOGLOBIN KARACHI 16 Feb 2016 Named protein variant HEMOGLOBIN KARIYA 16 Feb 2016 Named protein variant HEMOGLOBIN KARLSKOGA 16 Feb 2016 Named protein variant HEMOGLOBIN KAWACHI 16 Feb 2016 Named protein variant HEMOGLOBIN KEMPSEY 16 Feb 2016 Named protein variant HEMOGLOBIN KENITRA 16 Feb 2016 Named protein variant HEMOGLOBIN KENWOOD 16 Feb 2016 Named protein variant HEMOGLOBIN KENYA 16 Feb 2016 Named protein variant HEMOGLOBIN KHARTOUM 16 Feb 2016 Named protein variant HEMOGLOBIN KNOSSOS 16 Feb 2016 Named protein variant HEMOGLOBIN KNOXVILLE-1 16 Feb 2016 Named protein variant HEMOGLOBIN KOBE 16 Feb 2016 Named protein variant HEMOGLOBIN KOCHI 16 Feb 2016 Named protein variant HEMOGLOBIN KODAIRA 16 Feb 2016 Named protein variant HEMOGLOBIN KODAIRA II 16 Feb 2016 Named protein variant HEMOGLOBIN KOELLIKER 16 Feb 2016 Named protein variant HEMOGLOBIN KOFU 16 Feb 2016 Named protein variant HEMOGLOBIN KOKURA 16 Feb 2016 Named protein variant HEMOGLOBIN KOREA 16 Feb 2016 Named protein variant HEMOGLOBIN KORIYAMA 16 Feb 2016 Named protein variant HEMOGLOBIN KORLE-BU 16 Feb 2016 Named protein variant HEMOGLOBIN KOYA DORA 16 Feb 2016 Named protein variant HEMOGLOBIN KURASHIKI 16 Feb 2016 Named protein variant HEMOGLOBIN KURDISTAN 16 Feb 2016 Named protein variant HEMOGLOBIN KUROSAKI 16 Feb 2016 Named protein variant HEMOGLOBIN L (FERRARA) 16 Feb 2016 Named protein variant HEMOGLOBIN L (GASLINI) 16 Feb 2016 Named protein variant HEMOGLOBIN L (PERSIAN GULF) 16 Feb 2016 Named protein variant HEMOGLOBIN LA CORUNA 16 Feb 2016 Named protein variant HEMOGLOBIN LA DESIRADE 16 Feb 2016 Named protein variant HEMOGLOBIN LA ROCHE-SUR-YON 16 Feb 2016 Named protein variant HEMOGLOBIN LAMEN ISLAND 16 Feb 2016 Named protein variant HEMOGLOBIN LAS PALMAS 16 Feb 2016 Named protein variant HEMOGLOBIN LE LAMENTIN 16 Feb 2016 Named protein variant HEMOGLOBIN LEGNANO 16 Feb 2016 Named protein variant HEMOGLOBIN LEIDEN 16 Feb 2016 Named protein variant Hemoglobin Lepore trait NCBI curation C0472769 16 Feb 2016 Disease Hemoglobin Lepore-beta-thalassemia syndrome MONDO CN227251 MONDO:0018022 17 Apr 2020 Disease HEMOGLOBIN LESLIE 16 Feb 2016 Named protein variant HEMOGLOBIN LILLE 16 Feb 2016 Named protein variant HEMOGLOBIN LIMASSOL 16 Feb 2016 Named protein variant HEMOGLOBIN LINCOLN PARK 16 Feb 2016 Named protein variant HEMOGLOBIN LINKOPING 16 Feb 2016 Named protein variant HEMOGLOBIN LISBON 16 Feb 2016 Named protein variant HEMOGLOBIN LOIRE 16 Feb 2016 Named protein variant HEMOGLOBIN LOMBARD 16 Feb 2016 Named protein variant HEMOGLOBIN LUCKNOW 16 Feb 2016 Named protein variant HEMOGLOBIN LUFKIN 16 Feb 2016 Named protein variant HEMOGLOBIN LUTON 16 Feb 2016 Named protein variant HEMOGLOBIN LUXEMBOURG 16 Feb 2016 Named protein variant HEMOGLOBIN LYON 16 Feb 2016 Named protein variant HEMOGLOBIN M (AKITA) 16 Feb 2016 Named protein variant HEMOGLOBIN M (BOSTON) 16 Feb 2016 Named protein variant HEMOGLOBIN M (GOTHENBURG) 16 Feb 2016 Named protein variant HEMOGLOBIN M (HYDE PARK) 16 Feb 2016 Named protein variant HEMOGLOBIN M (IWATE) 16 Feb 2016 Named protein variant HEMOGLOBIN M (KANKAKEE) 16 Feb 2016 Named protein variant HEMOGLOBIN M (KISKUNHALAS) 16 Feb 2016 Named protein variant HEMOGLOBIN M (MILWAUKEE 1) 16 Feb 2016 Named protein variant HEMOGLOBIN M (MILWAUKEE 2) 16 Feb 2016 Named protein variant HEMOGLOBIN M (OLDENBURG) 16 Feb 2016 Named protein variant HEMOGLOBIN M (OSAKA) 16 Feb 2016 Named protein variant HEMOGLOBIN M (RADOM) METHEMOGLOBINEMIA, BETA TYPE 23 May 2018 Disease HEMOGLOBIN M (SASKATOON) 16 Feb 2016 Named protein variant HEMOGLOBIN M (SENDAI) 16 Feb 2016 Named protein variant Hemoglobin M disease NCBI curation C3665425 28 May 2020 Disease HEMOGLOBIN MACHIDA 16 Feb 2016 Named protein variant HEMOGLOBIN MADRID 16 Feb 2016 Named protein variant HEMOGLOBIN MAHIDOL 16 Feb 2016 Named protein variant HEMOGLOBIN MALAY 16 Feb 2016 Named protein variant HEMOGLOBIN MALHACEN 16 Feb 2016 Named protein variant HEMOGLOBIN MALMO 16 Feb 2016 Named protein variant HEMOGLOBIN MANAWATU 16 Feb 2016 Named protein variant HEMOGLOBIN MANHATTAN 16 Feb 2016 Named protein variant HEMOGLOBIN MANITOBA 16 Feb 2016 Named protein variant HEMOGLOBIN MANTES-LA-JOLIE 16 Feb 2016 Named protein variant HEMOGLOBIN MANUKAU 16 Feb 2016 Named protein variant HEMOGLOBIN MAPUTO 16 Feb 2016 Named protein variant HEMOGLOBIN MARINEO 16 Feb 2016 Named protein variant HEMOGLOBIN MASUDA 16 Feb 2016 Named protein variant HEMOGLOBIN MATERA 16 Feb 2016 Named protein variant HEMOGLOBIN MATSUE-OKI 16 Feb 2016 Named protein variant HEMOGLOBIN MCKEES ROCKS 16 Feb 2016 Named protein variant HEMOGLOBIN MEDICINE LAKE 16 Feb 2016 Named protein variant HEMOGLOBIN MEILAHTI 16 Feb 2016 Named protein variant HEMOGLOBIN MELUSINE 16 Feb 2016 Named protein variant HEMOGLOBIN MEMPHIS 16 Feb 2016 Named protein variant HEMOGLOBIN MEQUON 16 Feb 2016 Named protein variant HEMOGLOBIN MEXICO 16 Feb 2016 Named protein variant HEMOGLOBIN MICHIGAN-I 16 Feb 2016 Named protein variant HEMOGLOBIN MICHIGAN-II 16 Feb 2016 Named protein variant HEMOGLOBIN MILLEDGEVILLE 16 Feb 2016 Named protein variant HEMOGLOBIN MINNEAPOLIS-LAOS 16 Feb 2016 Named protein variant HEMOGLOBIN MITO 16 Feb 2016 Named protein variant HEMOGLOBIN MIYADA 16 Feb 2016 Named protein variant HEMOGLOBIN MIYANO 16 Feb 2016 Named protein variant HEMOGLOBIN MIYASHIRO 16 Feb 2016 Named protein variant HEMOGLOBIN MIZUHO 16 Feb 2016 Named protein variant HEMOGLOBIN MIZUNAMI 16 Feb 2016 Named protein variant HEMOGLOBIN MIZUSHI 16 Feb 2016 Named protein variant HEMOGLOBIN MOABIT 16 Feb 2016 Named protein variant HEMOGLOBIN MOBILE 16 Feb 2016 Named protein variant HEMOGLOBIN MOLFETTA 16 Feb 2016 Named protein variant HEMOGLOBIN MONT SAINT-AIGNAN 16 Feb 2016 Named protein variant HEMOGLOBIN MONTEFIORE 16 Feb 2016 Named protein variant HEMOGLOBIN MONTGOMERY 16 Feb 2016 Named protein variant HEMOGLOBIN MONTREAL 16 Feb 2016 Named protein variant HEMOGLOBIN MORIGUCHI 16 Feb 2016 Named protein variant HEMOGLOBIN MOSCVA 16 Feb 2016 Named protein variant HEMOGLOBIN MOSELLA 16 Feb 2016 Named protein variant HEMOGLOBIN MOTOWN 16 Feb 2016 Named protein variant HEMOGLOBIN MOZHAISK 16 Feb 2016 Named protein variant HEMOGLOBIN MUGINO 16 Feb 2016 Named protein variant HEMOGLOBIN MUNAKATA 16 Feb 2016 Named protein variant HEMOGLOBIN MUSCAT 16 Feb 2016 Named protein variant HEMOGLOBIN MUSKEGON 16 Feb 2016 Named protein variant HEMOGLOBIN N (BALTIMORE) 16 Feb 2016 Named protein variant HEMOGLOBIN N (COSENZA) 16 Feb 2016 Named protein variant HEMOGLOBIN N (JENKINS) 16 Feb 2016 Named protein variant HEMOGLOBIN N (MEMPHIS) 16 Feb 2016 Named protein variant HEMOGLOBIN N (SEATTLE) 16 Feb 2016 Named protein variant HEMOGLOBIN N (TIMONE) 16 Feb 2016 Named protein variant HEMOGLOBIN N, BETA TYPE 16 Feb 2016 Named protein variant HEMOGLOBIN NAGASAKI 16 Feb 2016 Named protein variant HEMOGLOBIN NAGOYA 16 Feb 2016 Named protein variant HEMOGLOBIN NAKANO 16 Feb 2016 Named protein variant HEMOGLOBIN NANCY 16 Feb 2016 Named protein variant HEMOGLOBIN NATAL 16 Feb 2016 Named protein variant HEMOGLOBIN NECKER ENFANTS-MALADES 16 Feb 2016 Named protein variant HEMOGLOBIN NEVERS 16 Feb 2016 Named protein variant HEMOGLOBIN NEW MEXICO 16 Feb 2016 Named protein variant HEMOGLOBIN NEWCASTLE 16 Feb 2016 Named protein variant HEMOGLOBIN NIGERIA 16 Feb 2016 Named protein variant HEMOGLOBIN NIJKERK 16 Feb 2016 Named protein variant HEMOGLOBIN NIKAIA 16 Feb 2016 Named protein variant HEMOGLOBIN NIKOSIA 16 Feb 2016 Named protein variant HEMOGLOBIN NISHIK 16 Feb 2016 Named protein variant HEMOGLOBIN NITEROI 16 Feb 2016 Named protein variant HEMOGLOBIN NOKO 16 Feb 2016 Named protein variant HEMOGLOBIN NORFOLK 16 Feb 2016 Named protein variant HEMOGLOBIN NORTH CHICAGO 16 Feb 2016 Named protein variant HEMOGLOBIN NORTON 16 Feb 2016 Named protein variant HEMOGLOBIN NOTTINGHAM 16 Feb 2016 Named protein variant HEMOGLOBIN NOUAKCHOTT 16 Feb 2016 Named protein variant HEMOGLOBIN NUNOBIKI 16 Feb 2016 Named protein variant HEMOGLOBIN NYU 16 Feb 2016 Named protein variant HEMOGLOBIN O (ARAB) 16 Feb 2016 Named protein variant HEMOGLOBIN O (BUGINESE-X) 16 Feb 2016 Named protein variant HEMOGLOBIN O (INDONESIA) 16 Feb 2016 Named protein variant HEMOGLOBIN O (OLIVIERE) 16 Feb 2016 Named protein variant HEMOGLOBIN O (PADOVA) 16 Feb 2016 Named protein variant HEMOGLOBIN O (TIBESTI) 16 Feb 2016 Named protein variant HEMOGLOBIN OCHO RIOS 16 Feb 2016 Named protein variant HEMOGLOBIN OEGSTGEEST 16 Feb 2016 Named protein variant HEMOGLOBIN OGI 16 Feb 2016 Named protein variant HEMOGLOBIN OHIO 16 Feb 2016 Named protein variant HEMOGLOBIN OITA 16 Feb 2016 Named protein variant HEMOGLOBIN OKALOOSA 16 Feb 2016 Named protein variant HEMOGLOBIN OKAYAMA 16 Feb 2016 Named protein variant HEMOGLOBIN OKAZAKI 16 Feb 2016 Named protein variant HEMOGLOBIN OLEANDER 16 Feb 2016 Named protein variant HEMOGLOBIN OLIVIERE 16 Feb 2016 Named protein variant HEMOGLOBIN OLMSTED 16 Feb 2016 Named protein variant HEMOGLOBIN OLOMOUC 16 Feb 2016 Named protein variant HEMOGLOBIN OLYMPIA 16 Feb 2016 Named protein variant HEMOGLOBIN OSLER 16 Feb 2016 Named protein variant HEMOGLOBIN OTTAWA 16 Feb 2016 Named protein variant HEMOGLOBIN OWARI 16 Feb 2016 Named protein variant HEMOGLOBIN OZIERI 16 Feb 2016 Named protein variant HEMOGLOBIN P 16 Feb 2016 Named protein variant HEMOGLOBIN P (CONGO) 16 Feb 2016 Named protein variant HEMOGLOBIN P (GALVESTON) 16 Feb 2016 Named protein variant HEMOGLOBIN P (NILOTIC) 16 Feb 2016 Named protein variant HEMOGLOBIN PALMERSTON NORTH 16 Feb 2016 Named protein variant HEMOGLOBIN PARCHMAN 16 Feb 2016 Named protein variant HEMOGLOBIN PARK RIDGE 16 Feb 2016 Named protein variant HEMOGLOBIN PART-DIEU 16 Feb 2016 Named protein variant HEMOGLOBIN PASADENA 16 Feb 2016 Named protein variant HEMOGLOBIN PASSY 16 Feb 2016 Named protein variant HEMOGLOBIN PAVIE 16 Feb 2016 Named protein variant HEMOGLOBIN PERSPOLIS 16 Feb 2016 Named protein variant HEMOGLOBIN PERTH 16 Feb 2016 Named protein variant HEMOGLOBIN PETAH TIKVA 16 Feb 2016 Named protein variant HEMOGLOBIN PETERBOROUGH 16 Feb 2016 Named protein variant HEMOGLOBIN PHILLY 16 Feb 2016 Named protein variant HEMOGLOBIN PIERRE-BENITE 16 Feb 2016 Named protein variant HEMOGLOBIN PLASENCIA 16 Feb 2016 Named protein variant HEMOGLOBIN POCOS DE CALDAS 16 Feb 2016 Named protein variant HEMOGLOBIN POISSY 16 Feb 2016 Named protein variant HEMOGLOBIN POITIERS 16 Feb 2016 Named protein variant HEMOGLOBIN PONTOISE 16 Feb 2016 Named protein variant HEMOGLOBIN PORT HURON 16 Feb 2016 Named protein variant HEMOGLOBIN PORT PHILLIP 16 Feb 2016 Named protein variant HEMOGLOBIN PORTO ALEGRE 16 Feb 2016 Named protein variant HEMOGLOBIN POTOMAC 16 Feb 2016 Named protein variant HEMOGLOBIN PRESBYTERIAN 16 Feb 2016 Named protein variant HEMOGLOBIN PROVIDENCE 16 Feb 2016 Named protein variant HEMOGLOBIN PUTTELANGE 16 Feb 2016 Named protein variant HEMOGLOBIN PYRGOS 16 Feb 2016 Named protein variant HEMOGLOBIN Q 16 Feb 2016 Named protein variant HEMOGLOBIN Q (INDIA) 16 Feb 2016 Named protein variant HEMOGLOBIN Q (IRAN) 16 Feb 2016 Named protein variant HEMOGLOBIN Q (THAILAND) 16 Feb 2016 Named protein variant HEMOGLOBIN QUEENS 16 Feb 2016 Named protein variant HEMOGLOBIN QUESTEMBERT 16 Feb 2016 Named protein variant HEMOGLOBIN QUIN-HAI 16 Feb 2016 Named protein variant Hemoglobin Quong Sze NCBI curation C0164294 16 Feb 2016 Named protein variant HEMOGLOBIN RADCLIFFE 16 Feb 2016 Named protein variant HEMOGLOBIN RAHERE 16 Feb 2016 Named protein variant HEMOGLOBIN RAINIER 16 Feb 2016 Named protein variant HEMOGLOBIN RALEIGH 16 Feb 2016 Named protein variant HEMOGLOBIN RAMONA 16 Feb 2016 Named protein variant HEMOGLOBIN RAMPA 16 Feb 2016 Named protein variant HEMOGLOBIN RANCHO MIRAGE 16 Feb 2016 Named protein variant HEMOGLOBIN RANDWICK 16 Feb 2016 Named protein variant HEMOGLOBIN REGINA 16 Feb 2016 Named protein variant HEMOGLOBIN REIMS 16 Feb 2016 Named protein variant HEMOGLOBIN RENERT 16 Feb 2016 Named protein variant HEMOGLOBIN RICCARTON 16 Feb 2016 Named protein variant HEMOGLOBIN RICHMOND 16 Feb 2016 Named protein variant HEMOGLOBIN RIO CLARO 16 Feb 2016 Named protein variant HEMOGLOBIN RIO GRANDE 16 Feb 2016 Named protein variant HEMOGLOBIN RIVERDALE-BRONX 16 Feb 2016 Named protein variant HEMOGLOBIN ROANNE 16 Feb 2016 Named protein variant HEMOGLOBIN ROCKFORD 16 Feb 2016 Named protein variant HEMOGLOBIN ROSEAU-POINTE A PITRE 16 Feb 2016 Named protein variant HEMOGLOBIN ROTHSCHILD 16 Feb 2016 Named protein variant HEMOGLOBIN ROUBAIX 16 Feb 2016 Named protein variant HEMOGLOBIN ROUEN 16 Feb 2016 Named protein variant HEMOGLOBIN RUSH 16 Feb 2016 Named protein variant HEMOGLOBIN RUSS 16 Feb 2016 Named protein variant HEMOGLOBIN S NCBI curation C0019043 16 Feb 2016 Named protein variant HEMOGLOBIN S (ANTILLES) 16 Feb 2016 Disease HEMOGLOBIN S (CAMEROON) 16 Feb 2016 Disease HEMOGLOBIN S (PROVIDENCE) 16 Feb 2016 Disease HEMOGLOBIN S (TRAVIS) 16 Feb 2016 Disease HEMOGLOBIN SAALE 16 Feb 2016 Named protein variant HEMOGLOBIN SABINE 16 Feb 2016 Named protein variant HEMOGLOBIN SAGAMI 16 Feb 2016 Named protein variant HEMOGLOBIN SAINT ETIENNE 16 Feb 2016 Disease HEMOGLOBIN SAINT JACQUES 16 Feb 2016 Named protein variant HEMOGLOBIN SAINT NAZAIRE 16 Feb 2016 Named protein variant HEMOGLOBIN SAITAMA 16 Feb 2016 Named protein variant HEMOGLOBIN SAKI 16 Feb 2016 Named protein variant HEMOGLOBIN SALLANCHES 16 Feb 2016 Named protein variant HEMOGLOBIN SAN ANTONIO 16 Feb 2016 Named protein variant HEMOGLOBIN SAN DIEGO 16 Feb 2016 Named protein variant HEMOGLOBIN SANTA ANA 16 Feb 2016 Named protein variant HEMOGLOBIN SANTA CLARA 16 Feb 2016 Named protein variant HEMOGLOBIN SANTANDER 16 Feb 2016 Named protein variant HEMOGLOBIN SARATOGA SPRINGS 16 Feb 2016 Named protein variant HEMOGLOBIN SARREBOURG 16 Feb 2016 Named protein variant HEMOGLOBIN SASSARI 16 Feb 2016 Named protein variant HEMOGLOBIN SAVANNAH 16 Feb 2016 Named protein variant HEMOGLOBIN SAVARIA 16 Feb 2016 Named protein variant HEMOGLOBIN SAVERNE 16 Feb 2016 Named protein variant HEMOGLOBIN SAWARA 16 Feb 2016 Named protein variant HEMOGLOBIN SEAL ROCK 16 Feb 2016 Named protein variant HEMOGLOBIN SEALY 16 Feb 2016 Named protein variant HEMOGLOBIN SEATTLE 16 Feb 2016 Named protein variant HEMOGLOBIN SERBIA 16 Feb 2016 Named protein variant HEMOGLOBIN SETIF 16 Feb 2016 Named protein variant HEMOGLOBIN SHAARE ZEDEK 16 Feb 2016 Named protein variant HEMOGLOBIN SHANGHAI 16 Feb 2016 Named protein variant HEMOGLOBIN SHELBY 16 Feb 2016 Named protein variant HEMOGLOBIN SHENYANG 16 Feb 2016 Named protein variant HEMOGLOBIN SHEPHERDS BUSH 16 Feb 2016 Named protein variant HEMOGLOBIN SHERWOOD FOREST 16 Feb 2016 Named protein variant HEMOGLOBIN SHIMONOSEKI 16 Feb 2016 Named protein variant HEMOGLOBIN SHOWA-YAKUSHIJI 16 Feb 2016 Named protein variant HEMOGLOBIN SHUANGFENG 16 Feb 2016 Named protein variant HEMOGLOBIN SIAM 16 Feb 2016 Named protein variant HEMOGLOBIN SILVER SPRINGS 16 Feb 2016 Named protein variant HEMOGLOBIN SINAI 16 Feb 2016 Named protein variant HEMOGLOBIN SINGAPORE 16 Feb 2016 Named protein variant HEMOGLOBIN SITIA 16 Feb 2016 Named protein variant HEMOGLOBIN SOGN 16 Feb 2016 Named protein variant HEMOGLOBIN SOUTH FLORIDA 16 Feb 2016 Named protein variant HEMOGLOBIN SOUTH MILWAUKEE 16 Feb 2016 Named protein variant HEMOGLOBIN SOUTHAMPTON 16 Feb 2016 Named protein variant HEMOGLOBIN SPANISH TOWN 16 Feb 2016 Named protein variant HEMOGLOBIN SPARTA 16 Feb 2016 Named protein variant HEMOGLOBIN ST. ANTOINE 16 Feb 2016 Named protein variant HEMOGLOBIN ST. CLAUDE 16 Feb 2016 Named protein variant HEMOGLOBIN ST. FRANCIS 16 Feb 2016 Named protein variant HEMOGLOBIN ST. LOUIS 16 Feb 2016 Named protein variant HEMOGLOBIN ST. LUKE'S 16 Feb 2016 Named protein variant HEMOGLOBIN ST. MANDE 16 Feb 2016 Named protein variant HEMOGLOBIN STANLEYVILLE-I 16 Feb 2016 Named protein variant HEMOGLOBIN STANLEYVILLE-II 16 Feb 2016 Named protein variant HEMOGLOBIN STANMORE 16 Feb 2016 Named protein variant HEMOGLOBIN STRASBOURG 16 Feb 2016 Named protein variant HEMOGLOBIN STRUMICA 16 Feb 2016 Named protein variant HEMOGLOBIN SUAN-DOK 16 Feb 2016 Named protein variant HEMOGLOBIN SUMMER HILL 16 Feb 2016 Named protein variant HEMOGLOBIN SUN PRAIRIE 16 Feb 2016 Named protein variant HEMOGLOBIN SUNNYBROOK 16 Feb 2016 Named protein variant HEMOGLOBIN SUNSHINE SETH 16 Feb 2016 Named protein variant HEMOGLOBIN SURESNES 16 Feb 2016 Named protein variant HEMOGLOBIN SWAN RIVER 16 Feb 2016 Named protein variant HEMOGLOBIN SYDNEY 16 Feb 2016 Named protein variant HEMOGLOBIN SYRACUSE 16 Feb 2016 Named protein variant HEMOGLOBIN T (CAMBODIA) 16 Feb 2016 Named protein variant HEMOGLOBIN TA-LI 16 Feb 2016 Named protein variant HEMOGLOBIN TAGAWA I 16 Feb 2016 Named protein variant HEMOGLOBIN TAGAWA II 16 Feb 2016 Named protein variant HEMOGLOBIN TAK 16 Feb 2016 Named protein variant HEMOGLOBIN TAKAMATSU 16 Feb 2016 Named protein variant HEMOGLOBIN TAMANO 16 Feb 2016 Named protein variant HEMOGLOBIN TAMPA 16 Feb 2016 Named protein variant HEMOGLOBIN TARRANT 16 Feb 2016 Named protein variant HEMOGLOBIN TATRAS 16 Feb 2016 Named protein variant HEMOGLOBIN TAYBE 16 Feb 2016 Named protein variant HEMOGLOBIN TENDE 16 Feb 2016 Named protein variant HEMOGLOBIN TERRE HAUTE 16 Feb 2016 Named protein variant HEMOGLOBIN THAILAND 16 Feb 2016 Named protein variant HEMOGLOBIN THIONVILLE 16 Feb 2016 Named protein variant HEMOGLOBIN TIANSHUI 16 Feb 2016 Named protein variant HEMOGLOBIN TIGRAYE 16 Feb 2016 Named protein variant HEMOGLOBIN TILBURG 16 Feb 2016 Named protein variant HEMOGLOBIN TITUSVILLE 16 Feb 2016 Named protein variant HEMOGLOBIN TIZI-OUZOU 16 Feb 2016 Named protein variant HEMOGLOBIN TOCHIGI 16 Feb 2016 Named protein variant HEMOGLOBIN TOKONAME 16 Feb 2016 Named protein variant HEMOGLOBIN TOKUCHI 16 Feb 2016 Named protein variant HEMOGLOBIN TOKYO 16 Feb 2016 Named protein variant HEMOGLOBIN TONOSHO 16 Feb 2016 Named protein variant HEMOGLOBIN TORINO 16 Feb 2016 Named protein variant HEMOGLOBIN TOTTORI 16 Feb 2016 Named protein variant HEMOGLOBIN TOULON 16 Feb 2016 Named protein variant HEMOGLOBIN TOURS 16 Feb 2016 Named protein variant HEMOGLOBIN TOYAMA 16 Feb 2016 Named protein variant HEMOGLOBIN TOYOAKE 16 Feb 2016 Named protein variant HEMOGLOBIN TRENTO 16 Feb 2016 Named protein variant HEMOGLOBIN TRIPOLI 16 Feb 2016 Named protein variant HEMOGLOBIN TROLLHAETTAN 16 Feb 2016 Named protein variant HEMOGLOBIN TSUKUMI 16 Feb 2016 Named protein variant HEMOGLOBIN TSURUMAI 16 Feb 2016 Named protein variant HEMOGLOBIN TUBINGEN 16 Feb 2016 Named protein variant HEMOGLOBIN TUNIS 16 Feb 2016 Named protein variant HEMOGLOBIN TUNIS-BIZERTE 16 Feb 2016 Named protein variant HEMOGLOBIN TURRIFF 16 Feb 2016 Named protein variant HEMOGLOBIN TWIN PEAKS 16 Feb 2016 Named protein variant HEMOGLOBIN TY GARD 16 Feb 2016 Named protein variant HEMOGLOBIN TYNE 16 Feb 2016 Named protein variant HEMOGLOBIN UBE-2 16 Feb 2016 Named protein variant HEMOGLOBIN UBE-4 16 Feb 2016 Named protein variant HEMOGLOBIN UMI 16 Feb 2016 Named protein variant HEMOGLOBIN UPPSALA 16 Feb 2016 Named protein variant HEMOGLOBIN UTSUNOMIYA 16 Feb 2016 Named protein variant HEMOGLOBIN VAASA 16 Feb 2016 Named protein variant Hemoglobin Val de Marne NCBI curation C0251144 16 Feb 2016 Named protein variant HEMOGLOBIN VALLETTA 16 Feb 2016 Named protein variant HEMOGLOBIN VANCOUVER 16 Feb 2016 Named protein variant HEMOGLOBIN VANDERBILT 16 Feb 2016 Named protein variant HEMOGLOBIN VARIANTS, MOLECULAR DEFECT UNKNOWN OR UNCERTAIN 16 Feb 2016 Named protein variant HEMOGLOBIN VICKSBURG 16 Feb 2016 Named protein variant HEMOGLOBIN VILA REAL 16 Feb 2016 Named protein variant HEMOGLOBIN VILLAVERDE 16 Feb 2016 Named protein variant HEMOGLOBIN VILLEJUIF 16 Feb 2016 Named protein variant HEMOGLOBIN VILLEURBANNE 16 Feb 2016 Named protein variant HEMOGLOBIN VOLGA 16 Feb 2016 Named protein variant HEMOGLOBIN WARWICKSHIRE 16 Feb 2016 Named protein variant HEMOGLOBIN WASHTENAW 16 Feb 2016 Named protein variant HEMOGLOBIN WATFORD 16 Feb 2016 Named protein variant HEMOGLOBIN WATTS 16 Feb 2016 Named protein variant HEMOGLOBIN WAYNE 16 Feb 2016 Named protein variant HEMOGLOBIN WESTMEAD 16 Feb 2016 Named protein variant HEMOGLOBIN WIEN 16 Feb 2016 Named protein variant HEMOGLOBIN WILLAMETTE 16 Feb 2016 Named protein variant HEMOGLOBIN WINDSOR 16 Feb 2016 Named protein variant HEMOGLOBIN WINNIPEG 16 Feb 2016 Named protein variant HEMOGLOBIN WOOD 16 Feb 2016 Named protein variant HEMOGLOBIN WOODVILLE 16 Feb 2016 Named protein variant HEMOGLOBIN WUMING 16 Feb 2016 Named protein variant HEMOGLOBIN YAHATA 16 Feb 2016 Named protein variant HEMOGLOBIN YAIZU 16 Feb 2016 Named protein variant HEMOGLOBIN YAKIMA 16 Feb 2016 Named protein variant HEMOGLOBIN YAMAGATA 16 Feb 2016 Named protein variant HEMOGLOBIN YAOUNDE 16 Feb 2016 Named protein variant HEMOGLOBIN YATSUSHIRO 16 Feb 2016 Named protein variant HEMOGLOBIN YOKOHAMA 16 Feb 2016 Named protein variant HEMOGLOBIN YORK 16 Feb 2016 Named protein variant HEMOGLOBIN YOSHIZUKA 16 Feb 2016 Named protein variant HEMOGLOBIN YPSILANTI 16 Feb 2016 Named protein variant HEMOGLOBIN YUDA 16 Feb 2016 Named protein variant HEMOGLOBIN YUKUHASHI-2 16 Feb 2016 Named protein variant HEMOGLOBIN YUSA 16 Feb 2016 Named protein variant HEMOGLOBIN ZAIRE 16 Feb 2016 Named protein variant HEMOGLOBIN ZAMBIA 16 Feb 2016 Named protein variant HEMOGLOBIN ZENGCHENG 16 Feb 2016 Named protein variant HEMOGLOBIN ZIGUINCHOR NCBI curation 16 Feb 2016 Named protein variant HEMOGLOBIN ZOETERWOUDE 16 Feb 2016 Named protein variant Hemoglobin Zurich 16 Feb 2016 Named protein variant HEMOGLOBIN ZURICH ALBISRIEDEN 16 Feb 2016 Named protein variant Hemoglobin, high altitude adaptation NCBI curation C1836778 609070 24 Aug 2016 Disease Hemoglobin--variants for which the chain carrying the mutation is unknown or uncertain NCBI curation C1840647 142309 16 Feb 2016 Named protein variant Hemoglobinemia 16 Feb 2016 Disease Hemoglobinopathy NCBI curation C0019045 16 Feb 2016 Disease Hemoglobinopathy Toms River MONDO C5190689 MONDO:0017238 17 Apr 2020 Disease Hemoglobinuria Human Phenotype Ontology C0019048 HP:0003641 16 Feb 2016 Disease Hemolysis, elevated liver enzymes, and low platelet count NCBI curation CN165702 16 Feb 2016 Disease Hemolytic anemia Human Phenotype Ontology C0002878 HP:0001878 16 Feb 2016 Disease Hemolytic anemia due to a disorder of glycolytic enzymes MONDO CN227783 MONDO:0020106 17 Apr 2020 Disease Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder MONDO CN227784 MONDO:0020107 17 Apr 2020 Disease HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY OMIM C5231513 618660 618660 28 Nov 2019 Disease Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency MONDO MONDO:0016626 17 Apr 2020 Disease Hemolytic anemia due to hexokinase deficiency C3150343 235700 16 Feb 2016 Disease Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies MONDO CN261352 MONDO:0020105 17 Apr 2020 Disease Hemolytic anemia with emphysema AND cutis laxa C0268352 16 Feb 2016 Disease Hemolytic anemia with thermal sensitivity of red cells NCBI curation C1856158 235370 16 Feb 2016 Disease Hemolytic anemia, nonspherocytic, and neurologic deficits, due to glucose phosphate isomerase deficiency NCBI curation C4016321 16 Feb 2016 Disease Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency NCBI curation C3150730 613470 16 Feb 2016 Disease Hemolytic disease of fetus OR newborn due to isoimmunization NCBI curation C0014761 16 Feb 2016 Disease Hemolytic disease of fetus OR newborn due to RhD isoimmunization NCBI curation C0158962 01 Dec 2017 Disease Hemolytic disease of the newborn with Kell alloimmunization MONDO CN202586 MONDO:0017164 17 Apr 2020 Disease Hemolytic poikilocytic anemia due to reduced ankyrin binding sites NCBI curation C1841622 141700 16 Feb 2016 Disease Hemolytic uremic syndrome, atypical, childhood CN036211 16 Feb 2016 Disease Hemolytic uremic syndrome, atypical, susceptibility to NCBI curation C1969906 16 Feb 2016 Disease Hemolytic uremic syndrome, atypical, susceptibility to, 7 NCBI curation CN170846 16 Feb 2016 Disease Hemolytic-uremic syndrome Human Phenotype Ontology C0019061 HP:0005575 10 Apr 2018 Disease Hemometra MONDO MONDO:0006782 17 Apr 2020 Disease Hemopericardium Human Phenotype Ontology C0019064 HP:0011851 16 Feb 2016 Finding Hemoperitoneum Human Phenotype Ontology C0019065 HP:0011854 16 Feb 2016 Finding Hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to NCBI curation 16 Feb 2016 Disease Hemophagocytic lymphohistiocytosis, familial, 5 NCBI curation C2751293 613101 16 Feb 2016 Disease Hemophagocytic reticulosis 16 Feb 2016 Disease Hemophagocytic syndrome MONDO C3887558 MONDO:0015540 17 Apr 2020 Disease Hemophagocytic syndrome associated with an infection MONDO C0019068 MONDO:0015543 17 Apr 2020 Disease Hemophagocytosis Human Phenotype Ontology C0876991 HP:0012156 16 Feb 2016 Finding Hemophilia C0684275 16 Feb 2016 Disease Hemophilia A with vascular abnormality NCBI curation C1844137 306800 16 Feb 2016 Disease Hemophilia A, FVIII Deficiency CN239152 02 Dec 2016 Disease Hemophilia B Brandenburg NCBI curation C4016497 16 Feb 2016 Disease Hemophilia B Leyden NCBI curation CN043454 16 Feb 2016 Disease Hemophilia b(m) NCBI curation CN043453 24 Aug 2016 Disease Hemophilia B, Factor IX Deficiency CN239239 02 Dec 2016 Disease Hemophilic arthropathy C0263725 16 Feb 2016 Disease Hemopneumothorax MONDO C0019077 MONDO:0006783 17 Apr 2020 Disease Hemopoietic proliferation NCBI curation C1844026 306930 16 Feb 2016 Disease hemopoietic stem cell transplant PharmGKB CN236684 06 Jul 2018 Disease Hemoptysis Human Phenotype Ontology C0019079 HP:0002105 16 Feb 2016 Finding Hemorrhage PharmGKB C0019080 18 May 2016 Disease Hemorrhage of the eye Human Phenotype Ontology C0015402 HP:0011885 16 Feb 2016 Finding Hemorrhage, intracerebral, susceptibility to NCBI curation C3281105 614519 05 Jun 2016 Disease Hemorrhagic cystitis MONDO C0085692 MONDO:0000496 17 Apr 2020 Disease Hemorrhagic destruction of the brain, subependymal calcification, and cataracts NCBI curation C3151000 613730 16 Feb 2016 Disease Hemorrhagic disease MONDO MONDO:0002243 17 Apr 2020 Disease Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation Orphanet C5190706 ORPHA178396 04 May 2016 Disease Hemorrhagic disease of newborn MONDO MONDO:0006784 17 Apr 2020 Disease Hemorrhagic disorder due to a coagulation factors defect MONDO CN226979 MONDO:0016628 17 Apr 2020 Disease Hemorrhagic disorder due to a constitutional platelet anomaly MONDO CN227572 MONDO:0019097 17 Apr 2020 Disease Hemorrhagic disorder due to a constitutional thrombocytopenia MONDO CN227098 MONDO:0017141 17 Apr 2020 Disease Hemorrhagic disorder due to a qualitative platelet defect MONDO CN227099 MONDO:0017142 17 Apr 2020 Disease Hemorrhagic disorder due to an acquired coagulation factor defect MONDO CN226721 MONDO:0015662 17 Apr 2020 Disease Hemorrhagic disorder due to an acquired platelet anomaly MONDO CN226981 MONDO:0016631 17 Apr 2020 Disease Hemorrhagic disorder due to hyperheparinemia NCBI curation C3203346 144050 16 Feb 2016 Disease Hemorrhagic duodenitis MONDO C0341245 MONDO:0024415 17 Apr 2020 Disease Hemorrhagic fever-renal syndrome MONDO C2930957 MONDO:0018081 04 Jun 2020 Infectious disease Hemorrhagic ovarian cyst Human Phenotype Ontology C0473311 HP:0012886 16 Feb 2016 Finding Hemorrhagic proctocolitis 16 Feb 2016 Disease Hemorrhagic shock and encephalopathy syndrome 16 Feb 2016 Disease Hemorrhoid MONDO C0019112 MONDO:0004872 17 Apr 2020 Disease Hemosiderinuria Human Phenotype Ontology C2721579 HP:0012543 16 Feb 2016 Finding Hemosiderosis C0019114 16 Feb 2016 Disease Hemosiderosis, systemic, due to aceruloplasminemia NCBI curation C1858583 16 Feb 2016 Disease Hemothorax Human Phenotype Ontology C0019123 HP:0012151 16 Feb 2016 Finding Hendra virus infection MONDO C4505487 MONDO:0017942 04 Jun 2020 Infectious disease Henipavirus infectious disease MONDO CN281781 MONDO:0005785 04 Jun 2020 Infectious disease Hennekam lymphangiectasia-lymphedema syndrome OMIM phenotypic series C0340834 PS235510 01 Feb 2020 Disease Hennekam lymphangiectasia-lymphedema syndrome 1 NCBI curation C4012050 235510 01 Feb 2020 Disease Hennekam lymphangiectasia-lymphedema syndrome 2 NCBI curation C4014939 616006 16 Feb 2016 Disease HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3 OMIM C4748408 618154 618154 26 Oct 2018 Disease Hennekam Van der Horst syndrome 16 Feb 2016 Disease Hennekam-Beemer syndrome MONDO C3151493 MONDO:0009569 248910 22 Apr 2020 Disease Henoch-Schoenlein purpura MONDO MONDO:0006785 22 Apr 2020 Disease Hepadnaviridae infectious disease MONDO C0206746 MONDO:0005786 04 Jun 2020 Infectious disease Hepadnavirus infection 16 Feb 2016 Disease Heparan sulfate excretion in urine Human Phenotype Ontology C1854827 HP:0002159 16 Feb 2016 Finding Heparane sulfamidase deficiency 16 Feb 2016 Disease Heparin cofactor II deficiency C0398626 612356 16 Feb 2016 Disease Heparin-induced thrombocytopenia Human Phenotype Ontology C0272285 HP:0011874 16 Feb 2016 Disease Hepatic abscesses due to immunodeficiency C1844380 16 Feb 2016 Finding Hepatic adenomas, familial NCBI curation C1840646 142330 16 Feb 2016 Disease Hepatic agenesis Human Phenotype Ontology C0266258 HP:0100839 16 Feb 2016 Finding Hepatic amyloidosis Human Phenotype Ontology C0267839 HP:0012280 16 Feb 2016 Finding Hepatic angiomyolipoma MONDO C1333962 MONDO:0002605 17 Apr 2020 Disease Hepatic arteriovenous malformation Human Phenotype Ontology C0520557 HP:0006574 16 Feb 2016 Finding Hepatic bridging fibrosis Human Phenotype Ontology C4022709 HP:0012852 16 Feb 2016 Finding Hepatic calcification Human Phenotype Ontology C1696466 HP:0006559 16 Feb 2016 Finding hepatic cancer 14 Mar 2019 Finding Hepatic coma MONDO C0019147 MONDO:0001548 17 Apr 2020 Disease Hepatic cystic hamartoma 16 Feb 2016 Disease Hepatic cysts Human Phenotype Ontology C0267834 HP:0001407 16 Feb 2016 Finding Hepatic encephalopathy Human Phenotype Ontology C0019151 HP:0002480 16 Feb 2016 Disease Hepatic failure Human Phenotype Ontology C0085605 HP:0001399 16 Feb 2016 Disease Hepatic fibrosis Human Phenotype Ontology C0239946 HP:0001395 16 Feb 2016 Disease Hepatic fibrosis renal cysts mental retardation 16 Feb 2016 Disease Hepatic fibrosis, severe, susceptibility to, due to schistosoma japonicum infection NCBI curation 16 Feb 2016 Disease Hepatic fibrosis, severe, susceptibility to, due to schistosoma mansoni infection NCBI curation C1858709 604201 16 Feb 2016 Disease Hepatic flexure cancer MONDO C0153433 MONDO:0002357 17 Apr 2020 Disease Hepatic glycogen storage 07 Oct 2016 Finding Hepatic granuloma MONDO C0745754 MONDO:0006241 17 Apr 2020 Disease Hepatic granulomatosis Human Phenotype Ontology C4023110 HP:0011955 16 Feb 2016 Finding Hepatic hemangioma Human Phenotype Ontology C0238246 HP:0031207 04 Apr 2018 Finding Hepatic infarction MONDO C0151731 MONDO:0001787 17 Apr 2020 Disease Hepatic lipase deficiency NCBI curation C3151466 614025 16 Feb 2016 Disease Hepatic methionine adenosyltransferase deficiency NCBI curation C0268621 250850 16 Feb 2016 Disease Hepatic necrosis Human Phenotype Ontology C0151798 HP:0002605 16 Feb 2016 Finding Hepatic periportal necrosis Human Phenotype Ontology C0546389 HP:0002614 16 Feb 2016 Finding Hepatic steatosis Human Phenotype Ontology C2711227 HP:0001397 16 Feb 2016 Finding Hepatic tuberculosis MONDO C0041313 MONDO:0005787 04 Jun 2020 Infectious disease Hepatic vascular disease MONDO C0400923 MONDO:0002405 17 Apr 2020 Disease Hepatic vascular malformations Human Phenotype Ontology C1861790 HP:0006576 16 Feb 2016 Finding Hepatic vein thrombosis Human Phenotype Ontology C0019154 HP:0030243 16 Feb 2016 Finding Hepatic veno-occlusive disease-immunodeficiency syndrome MONDO C1856128 MONDO:0009338 235550 17 Apr 2020 Disease Hepatitis Human Phenotype Ontology C0019158 HP:0012115 16 Feb 2016 Finding Hepatitis A virus infection MONDO C0019159 MONDO:0005790 04 Jun 2020 Infectious disease Hepatitis b vaccine, response to NCBI curation C1840634 142395 16 Feb 2016 Disease Hepatitis B virus infection MONDO C0019163 MONDO:0005344 04 Jun 2020 Infectious disease Hepatitis B virus, resistance to NCBI curation C3552303 16 Feb 2016 Disease Hepatitis b virus, susceptibility to NCBI curation C1864880 610424 16 Feb 2016 Disease Hepatitis C induced liver cirrhosis MONDO MONDO:0005448 17 Apr 2020 Disease Hepatitis C virus infection MONDO C0019196 MONDO:0005231 17 Apr 2020 Infectious disease Hepatitis C virus infection, response to therapy of NCBI curation C2750389 16 Feb 2016 Disease Hepatitis c virus, susceptibility to NCBI curation C1835407 609532 16 Feb 2016 Disease Hepatitis C, Chronic PharmGKB C0524910 18 May 2016 Disease Hepatitis C;HIV PharmGKB 17 Feb 2017 Disease Hepatitis D virus infection MONDO CN281782 MONDO:0005789 04 Jun 2020 Infectious disease Hepatitis E 16 Feb 2016 Disease Hepatitis E virus infection MONDO C0085293 MONDO:0005788 04 Jun 2020 Infectious disease Hepatitis X (non-A,-B,-C,-D,-E) 16 Feb 2016 Disease HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO OMIM C5231406 618549 618549 25 Aug 2019 Disease Hepatitis, viral, animal MONDO C0019194 MONDO:0025085 04 Jun 2020 Infectious disease Hepatobiliary disease MONDO C0267792 MONDO:0002515 17 Apr 2020 Disease Hepatobiliary neoplasm MONDO C0854196 MONDO:0002514 17 Apr 2020 Disease Hepatoblastoma Human Phenotype Ontology C0206624 HP:0002884 16 Feb 2016 Disease Hepatocellular adenoma Human Phenotype Ontology C0206669 HP:0012028 16 Feb 2016 Finding Hepatocellular carcinoma Human Phenotype Ontology C2239176 HP:0001402 114550 16 Feb 2016 Disease Hepatocellular clear cell carcinoma MONDO C1333067 MONDO:0003243 17 Apr 2020 Disease Hepatocellular necrosis Human Phenotype Ontology C1855038 HP:0001404 16 Feb 2016 Finding Hepatoerythropoietic porphyria C0162569 16 Feb 2016 Disease Hepatoid adenocarcinoma MONDO C1266090 MONDO:0006243 17 Apr 2020 Disease Hepatojugular reflux Human Phenotype Ontology C0239949 HP:0030849 02 Apr 2017 Finding Hepatomegaly Human Phenotype Ontology C0019209 HP:0002240 16 Feb 2016 Finding hepatomegaly with cystic changes CN238724 19 Oct 2016 Finding hepatopathy 15 Nov 2019 Finding Hepatopulmonary syndrome MONDO C0600452 MONDO:0004694 17 Apr 2020 Disease Hepatorenal syndrome C0019212 16 Feb 2016 Disease Hepatosplenic T-cell lymphoma MONDO C1333984 MONDO:0019474 17 Apr 2020 Disease Hepatosplenomegaly Human Phenotype Ontology C0019214 HP:0001433 16 Feb 2016 Finding Hepatosplenomegaly and fluctuating elevated hyper bilirubinemia and transaminases CN238709 19 Oct 2016 Finding HER2 positive breast carcinoma MONDO C1960398 MONDO:0006244 17 Apr 2020 Disease HER2-negative breast cancer NCBI curation C4733095 18 Jun 2020 Disease Hereditary acrodermatitis enteropathica C0221036 201100 16 Feb 2016 Disease Hereditary acrokeratotic poikiloderma of Kindler-Weary MONDO MONDO:0021062 17 Apr 2020 Disease Hereditary acrokeratotic poikiloderma, Weary type MONDO C0406556 MONDO:0017365 17 Apr 2020 Disease Hereditary amyloidosis MONDO C0740340 MONDO:0018634 22 Apr 2020 Disease Hereditary angioedema type 1 NCBI curation C2717906 106100 16 Feb 2016 Disease Hereditary angioedema type 3 MONDO C1857728 MONDO:0012526 610618 02 Jun 2020 Disease Hereditary angioedema with c1inh deficiency MONDO CN261059 MONDO:0033946 17 Apr 2020 Disease Hereditary angioedema with normal C1Inh CN277969 16 Mar 2020 Disease Hereditary angioneurotic edema NCBI curation C0019243 16 Feb 2016 Disease Hereditary ataxia NCBI curation C0004138 16 Feb 2016 Disease Hereditary ATTR amyloidosis MONDO CN227096 MONDO:0017132 17 Apr 2020 Disease Hereditary benign intraepithelial dyskeratosis C0265966 127600 16 Feb 2016 Disease Hereditary benign telangiectasia C0406502 187260 16 Feb 2016 Disease Hereditary breast and ovarian cancer syndrome Orphanet C0677776 ORPHA145 16 Feb 2016 Disease Hereditary breast and ovarian cancer syndrome (HBOC) CN237786 29 Jul 2016 Finding Hereditary breast cancer 13 Oct 2017 Finding Hereditary Breast Ovarian Cancer Sindrome 10 Jun 2020 Finding Hereditary C1 esterase inhibitor deficiency - dysfunctional factor NCBI curation C0398776 16 Feb 2016 Disease Hereditary cancer C1333600 11 Jan 2017 Disease Hereditary Cancer Syndrome CN882908 22 Mar 2018 Disease Hereditary cancer-predisposing syndrome NCBI curation C0027672 26 Aug 2016 Disease Hereditary carnitine deficiency 16 Feb 2016 Disease Hereditary central diabetes insipidus CN262428 15 Oct 2019 Disease Hereditary cerebellar ataxia syndrome of early onset 16 Feb 2016 Disease Hereditary cerebral amyloid angiopathy, Icelandic type C1527338 105150 16 Feb 2016 Disease Hereditary cerebral hemorrhage with amyloidosis NCBI curation C1510489 01 Aug 2019 Disease Hereditary Chorea C0699731 04 Jun 2020 Disease Hereditary choroidal atrophy MONDO C0154893 MONDO:0004883 17 Apr 2020 Disease Hereditary clear cell renal cell carcinoma MONDO C1333985 MONDO:0018492 17 Apr 2020 Disease Hereditary combined deficiency of vitamin K-dependent clotting factors NCBI curation C4510617 30 Jan 2020 Disease Hereditary congenital facial paresis NCBI curation CN228598 16 Feb 2016 Disease Hereditary congenital facial paresis 1 NCBI curation C1832284 601471 16 Feb 2016 Disease Hereditary congenital facial paresis 2 NCBI curation C1858717 604185 16 Feb 2016 Disease Hereditary congenital facial paresis 3 NCBI curation C3553625 614744 16 Feb 2016 Disease Hereditary connective tissue disorder MONDO C0410787 MONDO:0023603 17 Apr 2020 Disease Hereditary coproporphyria NCBI curation C0162531 121300 16 Feb 2016 Disease Hereditary cryohydrocytosis with normal stomatin MONDO C1861453 MONDO:0008494 185020 17 Apr 2020 Disease Hereditary cutaneous melanoma NCBI curation C1512419 16 Feb 2016 Disease Hereditary dentin defect MONDO CN226724 MONDO:0015668 17 Apr 2020 Disease Hereditary diffuse gastric cancer NCBI curation C1708349 137215 16 Feb 2016 Disease Hereditary diffuse leukoencephalopathy with spheroids NCBI curation C3711381 221820 16 Feb 2016 Disease Hereditary disease NCBI curation C0019247 16 Feb 2016 Disease Hereditary elliptocytosis C0013902 16 Feb 2016 Disease Hereditary endotheliopathy, retinopathy, nephropathy, and stroke 16 Feb 2016 Disease Hereditary epidermolysis bullosa associated with ocular features MONDO MONDO:0016997 17 Apr 2020 Disease Hereditary epistaxis C0339819 132500 16 Feb 2016 Disease Hereditary essential tremor NCBI curation CN263179 20 Jan 2020 Disease Hereditary Essential Tremor C0393615 02 Dec 2016 Disease Hereditary essential tremor 1 NCBI curation C1860861 190300 16 Feb 2016 Disease Hereditary eye diseases NCBI curation C0015398 16 Feb 2016 Disease Hereditary eye tumor MONDO CN200566 MONDO:0015966 17 Apr 2020 Disease Hereditary factor I deficiency disease NCBI curation C0019250 16 Feb 2016 Disease Hereditary factor II deficiency disease C0272317 16 Feb 2016 Disease Hereditary factor IX deficiency disease C0008533 306900 16 Feb 2016 Disease Hereditary factor VIII deficiency disease NCBI curation C0019069 306700 16 Feb 2016 Disease Hereditary factor XI deficiency disease C0015523 612416 16 Feb 2016 Disease Hereditary factor XIII deficiency disease C0015530 19 Jun 2019 Disease Hereditary fallopian tube carcinoma MONDO C1512418 MONDO:0004166 17 Apr 2020 Disease Hereditary fructosuria NCBI curation C0016751 229600 16 Feb 2016 Disease Hereditary gastric cancer MONDO CN261359 MONDO:0018502 17 Apr 2020 Disease Hereditary gingival fibromatosis NCBI curation C0399440 16 Feb 2016 Disease Hereditary glaucoma MONDO C3711383 MONDO:0018174 22 Apr 2020 Disease Hereditary hearing loss and deafness NCBI curation C0236038 16 Feb 2016 Disease Hereditary hemochromatosis NCBI curation C0392514 16 Feb 2016 Disease Hereditary hemorrhagic telangiectasia NCBI curation C0039445 26 Jul 2018 Disease Hereditary hemorrhagic telangiectasia type 1 NCBI curation C4551861 187300 20 Jan 2020 Disease Hereditary hemorrhagic telangiectasia type 3 C1832774 601101 16 Feb 2016 Disease Hereditary hemorrhagic telangiectasia type 4 C1857688 610655 16 Feb 2016 Disease Hereditary hyperferritinemia with congenital cataracts MONDO C1833213 MONDO:0010952 600886 22 Apr 2020 Disease Hereditary hyperuricemia 16 Feb 2016 Disease Hereditary hypotrichosis simplex C1854310 23 Aug 2019 Disease Hereditary inclusion body myopathy type 4 MONDO C4749501 MONDO:0017931 17 Apr 2020 Disease Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome MONDO C4510610 MONDO:0019195 17 Apr 2020 Disease Hereditary insensitivity to pain with anhidrosis NCBI curation C0020074 256800 16 Feb 2016 Disease Hereditary isolated aplastic anemia MONDO C5190891 MONDO:0018340 17 Apr 2020 Disease Hereditary kidney oncocytoma MONDO C0879606 MONDO:0003824 17 Apr 2020 Disease Hereditary late onset Parkinson disease MONDO CN237447 MONDO:0018466 17 Apr 2020 Disease Hereditary leiomyomatosis and renal cell cancer MONDO C1708350 MONDO:0007888 150800 17 Apr 2020 Disease Hereditary liability to pressure palsies C0393814 162500 16 Feb 2016 Disease Hereditary lymphedema NCBI curation CN235472 10 Mar 2016 Disease Hereditary lymphedema type I NCBI curation C1704423 153100 10 Mar 2016 Disease Hereditary macrothrombocytopenia 16 Feb 2016 Disease Hereditary methemoglobinemia NCBI curation C0272087 08 Apr 2018 Disease Hereditary methemoglobinemia, recessive 16 Feb 2016 Disease Hereditary Mixed Polyposis CN239955 20 Jan 2017 Disease Hereditary mixed polyposis syndrome C5192681 01 Mar 2017 Disease Hereditary mixed polyposis syndrome 1 NCBI curation C1832587 601228 16 Feb 2016 Disease Hereditary mixed polyposis syndrome 2 NCBI curation C1864730 610069 16 Feb 2016 Disease Hereditary motor and sensory neuropathy C0027888 16 Feb 2016 Disease Hereditary motor and sensory neuropathy VIA CN260128 20 Jun 2019 Disease Hereditary motor and sensory neuropathy with acrodystrophy MONDO C4749729 MONDO:0019550 17 Apr 2020 Disease Hereditary motor and sensory neuropathy with optic atrophy C0393807 601152 16 Feb 2016 Disease Hereditary motor and sensory neuropathy, Okinawa type MONDO C1858338 MONDO:0011468 604484 22 Apr 2020 Disease Hereditary mucoepithelial dysplasia C1274795 158310 16 Feb 2016 Disease Hereditary multiple osteochondromas CN072831 16 Feb 2016 Disease Hereditary Multiple Osteochondromatosis CN239374 02 Dec 2016 Disease Hereditary myopathy 12 Sep 2018 Finding Hereditary myopathy with intranuclear filamentous 16 Feb 2016 Disease Hereditary nephritis MONDO C0027706 MONDO:0005334 17 Apr 2020 Disease Hereditary nephrotic syndrome NCBI curation C1868672 17 Aug 2016 Disease Hereditary Nephrotic Syndromes, Autosomal Dominant CN043612 16 Feb 2016 Disease Hereditary Nephrotic Syndromes, Autosomal Recessive CN043613 16 Feb 2016 Disease Hereditary Neuralgic Amyotrophy (HNA) CN239156 02 Dec 2016 Disease Hereditary neurocutaneous angiomata C1275084 106070 16 Feb 2016 Disease Hereditary neuroendocrine tumor of small intestine CN847586 08 Mar 2018 Disease Hereditary neutrophilia C0543669 162830 16 Feb 2016 Disease Hereditary night blindness MONDO MONDO:0004587 17 Apr 2020 Disease Hereditary nodular heterotopia 16 Feb 2016 Disease Hereditary non-spherocytic hemolytic anemia CN072834 16 Feb 2016 Disease Hereditary nonpolyposis colon cancer Orphanet C0009405 ORPHA443090 13 Oct 2017 Disease Hereditary nonpolyposis colorectal cancer type 3 NCBI curation C3496202 16 Feb 2016 Disease Hereditary nonpolyposis colorectal cancer type 4 NCBI curation C1838333 614337 16 Feb 2016 Disease Hereditary nonpolyposis colorectal cancer type 5 NCBI curation C1833477 614350 16 Feb 2016 Disease Hereditary nonpolyposis colorectal cancer type 6 NCBI curation C1860896 614331 16 Feb 2016 Disease Hereditary nonpolyposis colorectal cancer type 7 NCBI curation C1858380 614385 16 Feb 2016 Disease Hereditary nonpolyposis colorectal cancer type 8 NCBI curation C2750471 613244 16 Feb 2016 Disease Hereditary nonpolyposis colorectal carcinoma Human Phenotype Ontology C4024989 HP:0006716 16 Feb 2016 Finding Hereditary optic atrophy MONDO C0029125 MONDO:0043878 17 Apr 2020 Disease Hereditary optic neuropathy MONDO CN229291 MONDO:0020249 17 Apr 2020 Disease Hereditary orotic aciduria without megaloblastic anaemia 16 Feb 2016 Disease Hereditary orotic aciduria, type 1 NCBI curation C0268130 24 Dec 2017 Disease Hereditary ovarian carcinoma NCBI curation C1333992 16 Feb 2016 Disease Hereditary palmoplantar keratoderma NCBI curation C0022596 16 Feb 2016 Disease Hereditary pancreatitis NCBI curation C0238339 167800 16 Feb 2016 Disease Hereditary papillary renal cell carcinoma MONDO C0879257 MONDO:0003789 17 Apr 2020 Disease Hereditary Paraganglioma-Pheochromacytoma Syndrome CN882909 22 Mar 2018 Disease Hereditary Paraganglioma-Pheochromocytoma Syndromes GeneReviews C1708353 NBK1548 16 Feb 2016 Disease Hereditary paroxysmal cerebral ataxia 16 Feb 2016 Disease Hereditary periodic fever syndrome MONDO CN204099 MONDO:0017953 17 Apr 2020 Disease Hereditary peripheral nervous disorder 16 Feb 2016 Disease Hereditary persistance of fetal hemoglobin (HPFH) CN252336 17 Jul 2018 Disease HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, KLF1-RELATED 16 Feb 2016 Disease Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome MONDO CN205122 MONDO:0018749 17 Apr 2020 Disease Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome MONDO CN201912 MONDO:0016672 17 Apr 2020 Disease Hereditary poikiloderma MONDO CN261795 MONDO:0016382 17 Apr 2020 Disease Hereditary predisposition to infections MONDO CN229009 MONDO:0015979 17 Apr 2020 Disease Hereditary primary Fanconi disease 16 Feb 2016 Disease Hereditary pyropoikilocytosis C0520739 266140 16 Feb 2016 Disease Hereditary renal cancer 15 Mar 2019 Disease Hereditary renal cell carcinoma NCBI curation C2608055 31 Mar 2018 Disease Hereditary renal hypouricemia CN279275 23 Aug 2019 Disease Hereditary Resistance to Activated Protein C CN842247 06 Mar 2018 Disease Hereditary resistance to anti-vitamin K 16 Feb 2016 Disease hereditary retinal dystrophies 14 Mar 2019 Finding Hereditary Retinoblastoma C0751483 04 Mar 2020 Disease Hereditary sclerosing poikiloderma NCBI curation C0343094 173700 16 Feb 2016 Disease Hereditary sensorimotor neuropathy with hyperelastic skin MONDO C5190690 MONDO:0017237 17 Apr 2020 Disease Hereditary sensory and autonomic neuropathy OMIM phenotypic series C0027889 PS162400 08 Apr 2018 Disease Hereditary sensory and autonomic neuropathy Orphanet C0027889 ORPHA140471 08 Apr 2018 Disease Hereditary sensory and autonomic neuropathy type IC NCBI curation C3150896 613640 16 Feb 2016 Disease Hereditary sensory and autonomic neuropathy type II GeneReviews C0020072 NBK49247 16 Feb 2016 Disease Hereditary sensory and autonomic neuropathy type IIA NCBI curation C2752089 201300 16 Feb 2016 Disease Hereditary sensory and autonomic neuropathy type IIB NCBI curation C2751092 613115 16 Feb 2016 Disease Hereditary sensory and autonomic neuropathy type IIC NCBI curation C3280168 614213 16 Feb 2016 Disease Hereditary sensory and autonomic neuropathy with deafness and global delay MONDO C4303566 MONDO:0015354 17 Apr 2020 Disease Hereditary Sensory and Autonomic type 2 01 Feb 2019 Finding Hereditary sensory neuropathy type 1D NCBI curation C3150972 613708 16 Feb 2016 Disease Hereditary sensory neuropathy type IE NCBI curation C3279885 614116 16 Feb 2016 Disease Hereditary sensory neuropathy type IF NCBI curation C3810194 615632 16 Feb 2016 Disease Hereditary sideroblastic anemia C0221018 08 Feb 2020 Disease Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis CN239187 02 Dec 2016 Disease Hereditary site-specific ovarian cancer syndrome MONDO C4749652 MONDO:0016249 17 Apr 2020 Disease Hereditary spastic paraplegia NCBI curation C0037773 16 Feb 2016 Disease Hereditary spastic paraplegia 10 MONDO C1858712 MONDO:0011408 604187 17 Apr 2020 Disease Hereditary spastic paraplegia 12 MONDO C1858106 MONDO:0011489 604805 17 Apr 2020 Disease Hereditary spastic paraplegia 13 MONDO C1854467 MONDO:0011532 605280 17 Apr 2020 Disease Hereditary spastic paraplegia 14 MONDO C1854568 MONDO:0011522 605229 17 Apr 2020 Disease Hereditary spastic paraplegia 15 MONDO C1849128 MONDO:0010044 270700 17 Apr 2020 Disease Hereditary spastic paraplegia 16 MONDO C1846046 MONDO:0010287 300266 17 Apr 2020 Disease Hereditary spastic paraplegia 19 MONDO C1846685 MONDO:0011785 607152 17 Apr 2020 Disease Hereditary spastic paraplegia 2 MONDO C1839264 MONDO:0010733 312920 17 Apr 2020 Disease Hereditary spastic paraplegia 23 MONDO C0796019 MONDO:0010046 270750 17 Apr 2020 Disease Hereditary spastic paraplegia 24 MONDO C1843569 MONDO:0011862 607584 17 Apr 2020 Disease Hereditary spastic paraplegia 25 MONDO C2936860 MONDO:0011992 608220 17 Apr 2020 Disease Hereditary spastic paraplegia 26 MONDO C1836632 MONDO:0012213 609195 17 Apr 2020 Disease Hereditary spastic paraplegia 29 MONDO C1857855 MONDO:0012334 609727 17 Apr 2020 Disease Hereditary spastic paraplegia 39 MONDO C2677586 MONDO:0012787 612020 17 Apr 2020 Disease Hereditary spastic paraplegia 3A MONDO C2931355 MONDO:0008437 182600 17 Apr 2020 Disease Hereditary spastic paraplegia 5A MONDO C1849115 MONDO:0010047 270800 17 Apr 2020 Disease Hereditary spastic paraplegia 6 MONDO C1838192 MONDO:0010878 600363 17 Apr 2020 Disease Hereditary spastic paraplegia 7 MONDO C1846564 MONDO:0011803 607259 17 Apr 2020 Disease Hereditary spastic paraplegia 8 MONDO C1863704 MONDO:0011339 603563 22 Apr 2020 Disease Hereditary spastic paraplegia 9A MONDO C1832669 MONDO:0011006 601162 17 Apr 2020 Disease Hereditary spherocytic hemolytic anemia 16 Feb 2016 Disease Hereditary spherocytosis NCBI curation C0037889 16 Feb 2016 Disease Hereditary stomatocytosis NCBI curation C1262483 16 Feb 2016 Disease Hereditary thrombocytopenia and hematologic cancer predisposition syndrome MONDO CN281654 MONDO:0011071 08 Jun 2020 Disease Hereditary thrombocytopenia with normal platelets MONDO C5190888 MONDO:0017057 17 Apr 2020 Disease Hereditary thrombocytosis with transverse limb defect MONDO C4749944 MONDO:0018000 17 Apr 2020 Disease Hereditary thrombophilia NCBI curation C2584620 16 Feb 2016 Disease Hereditary thrombophilia due to congenital protein C deficiency MONDO CN205677 MONDO:0019145 17 Apr 2020 Disease Hereditary thrombophilia due to congenital protein S deficiency MONDO CN225972 MONDO:0019144 17 Apr 2020 Disease Hereditary type 1 neuropathy 16 Feb 2016 Disease Hereditary type 2 neuropathy 16 Feb 2016 Disease Hereditary vascular retinopathy 16 Feb 2016 Disease Hereditary Wilms' tumor MONDO C0677779 MONDO:0003321 17 Apr 2020 Disease Hereditary xanthinuria Orphanet CN257747 ORPHA3467 29 Oct 2018 Disease Heritable Thoracic Aortic Disease CN868256 16 Mar 2018 Disease Hermansky-Pudlak syndrome OMIM phenotypic series C0079504 PS203300 16 Feb 2016 Disease Hermansky-Pudlak syndrome 1 NCBI curation C2931875 203300 16 Feb 2016 Disease Hermansky-Pudlak syndrome 10 NCBI curation C4310746 617050 02 Nov 2017 Disease Hermansky-Pudlak Syndrome 11 CN230107 16 Feb 2016 Disease Hermansky-Pudlak Syndrome 12 CN230108 16 Feb 2016 Disease Hermansky-Pudlak Syndrome 13 CN230109 16 Feb 2016 Disease Hermansky-Pudlak Syndrome 14 CN230105 16 Feb 2016 Disease Hermansky-Pudlak syndrome 2 MONDO C1842362 MONDO:0011997 608233 22 Apr 2020 Disease Hermansky-Pudlak syndrome 3 NCBI curation C3888001 614072 16 Feb 2016 Disease Hermansky-Pudlak syndrome 4 NCBI curation C3484357 614073 16 Feb 2016 Disease Hermansky-Pudlak syndrome 5 NCBI curation C3888004 614074 16 Feb 2016 Disease Hermansky-Pudlak syndrome 6 NCBI curation C3888007 614075 16 Feb 2016 Disease Hermansky-Pudlak syndrome 7 NCBI curation C3279756 614076 16 Feb 2016 Disease Hermansky-Pudlak syndrome 8 NCBI curation C3888026 614077 16 Feb 2016 Disease Hermansky-Pudlak syndrome 9 NCBI curation C3280026 614171 16 Feb 2016 Disease Hermansky-Pudlak syndrome with pulmonary fibrosis MONDO CN201506 MONDO:0016501 17 Apr 2020 Disease Hermansky-Pudlak syndrome without pulmonary fibrosis MONDO CN201507 MONDO:0016502 17 Apr 2020 Disease Hermaphroditism 16 Feb 2016 Disease Hernia Human Phenotype Ontology C0019270 HP:0100790 16 Feb 2016 Finding Hernia of ovary and fallopian tube MONDO MONDO:0001578 17 Apr 2020 Disease Hernia of the abdominal wall Human Phenotype Ontology C1442978 HP:0004299 16 Feb 2016 Finding Hernia, anterior diaphragmatic NCBI curation C1844025 306950 16 Feb 2016 Disease Hernia, double inguinal NCBI curation C0860251 142350 16 Feb 2016 Disease Herniation of intervertebral nuclei Human Phenotype Ontology C1832597 HP:0008441 16 Feb 2016 Finding Hernández-Aguirre Negrete syndrome MONDO C2931736 MONDO:0016290 17 Apr 2020 Disease Heroin Dependence PharmGKB C0019337 18 May 2016 Disease Heroin Dependence;Opioid-Related Disorders;Pain;Pain, Postoperative PharmGKB 17 Feb 2017 Disease heroin response - Dosage, Efficacy, Metabolism/PK PharmGKB 982034197PA452619 06 Jul 2018 Pharmacological response heroin response - Metabolism/PK PharmGKB CN236596 982034197 18 May 2016 Pharmacological response Herpangina MONDO C0019338 MONDO:0005791 04 Jun 2020 Infectious disease Herpes gestationis C0019343 16 Feb 2016 Disease Herpes labialis MONDO C0019345 MONDO:0043653 04 Jun 2020 Infectious disease Herpes simiae (B virus) 16 Feb 2016 Disease Herpes simplex dermatitis MONDO C0854331 MONDO:0004712 04 Jun 2020 Infectious disease Herpes simplex encephalitis Human Phenotype Ontology C0276226 HP:0012302 16 Feb 2016 Infectious disease Herpes simplex encephalitis 1 NCBI curation C2750180 610551 16 Feb 2016 Disease Herpes simplex encephalitis 2 NCBI curation C2751803 613002 16 Feb 2016 Disease Herpes simplex encephalitis, susceptibility to, 3 NCBI curation C3553868 614849 16 Feb 2016 Disease Herpes simplex encephalitis, susceptibility to, 4 NCBI curation C3553869 614850 16 Feb 2016 Disease Herpes simplex encephalitis, susceptibility to, 7 NCBI curation C4225294 616532 16 Feb 2016 Disease Herpes simplex infectious disease MONDO C0019348 MONDO:0004609 04 Jun 2020 Infectious disease Herpes simplex virus gingivostomatitis MONDO CN281783 MONDO:0005792 04 Jun 2020 Infectious disease Herpes simplex virus keratitis MONDO C0019357 MONDO:0015288 04 Jun 2020 Infectious disease Herpes virus antenatal infection 16 Feb 2016 Disease Herpes zoster MONDO C0019360 MONDO:0005609 04 Jun 2020 Infectious disease Herpes zoster auricularis 16 Feb 2016 Disease Herpes zoster dermatitis MONDO C0854330 MONDO:0021033 04 Jun 2020 Infectious disease Herpes zoster with dermatitis of eyelid MONDO C0019362 MONDO:0021032 04 Jun 2020 Infectious disease Herpesviridae infectious disease MONDO CN281784 MONDO:0005794 04 Jun 2020 Infectious disease Herpesvirus simiae B virus 16 Feb 2016 Disease Herpetic embryopathy 16 Feb 2016 Disease Herpetic gastritis MONDO C1333996 MONDO:0003769 04 Jun 2020 Infectious disease Herpetic keratitis 16 Feb 2016 Disease Herpetic vulvovaginitis MONDO C0019386 MONDO:0021175 04 Jun 2020 Infectious disease Herpetic whitlow MONDO C0153042 MONDO:0004616 04 Jun 2020 Infectious disease Herpetiform corneal ulceration Human Phenotype Ontology C4020911 HP:0007812 16 Feb 2016 Finding Herpetiform pemphigus MONDO C4749730 MONDO:0016164 17 Apr 2020 Disease Herpetiform vesicles Human Phenotype Ontology C4531111 HP:0031448 04 Apr 2018 Finding Herrmann Opitz arthrogryposis syndrome 16 Feb 2016 Disease Heter-phenotype 05 Feb 2019 Finding heteroaggressive behaviors 22 Aug 2019 Finding Heterochromia iridis Human Phenotype Ontology C0423318 HP:0001100 142500 31 Jan 2017 Finding heterogeneous nuclear ribonucleoprotein G, human C1723387 04 Oct 2018 Pharmacological response Heteronymous hemianopia Human Phenotype Ontology C0271207 HP:0030517 16 Feb 2016 Finding Heterophyiasis MONDO C0152071 MONDO:0004662 04 Jun 2020 Infectious disease Heterotaxia Human Phenotype Ontology C3178805 HP:0030853 13 Apr 2018 Disease Heterotaxia Orphanet C3178805 ORPHA450 13 Apr 2018 Disease Heterotaxia autosomal dominant type 16 Feb 2016 Disease heterotaxia syndrome 18 Oct 2019 Disease Heterotaxy C0266642 19 Jul 2018 Finding Heterotaxy syndrome with asplenia C3640088 18 Jan 2019 Finding Heterotaxy with polysplenia or asplenia 16 Feb 2016 Disease Heterotaxy, visceral, 1, X-linked MONDO C1844020 MONDO:0010607 306955 22 Apr 2020 Disease Heterotaxy, visceral, 2, autosomal NCBI curation C1415817 605376 16 Feb 2016 Disease Heterotaxy, visceral, 3, autosomal NCBI curation C1853444 606325 16 Feb 2016 Disease Heterotaxy, visceral, 4, autosomal NCBI curation C3151057 613751 16 Feb 2016 Disease Heterotaxy, visceral, 5 CN259032 13 Jun 2019 Disease Heterotaxy, visceral, 6, autosomal NCBI curation C3553676 614779 16 Feb 2016 Disease Heterotaxy, visceral, 6, autosomal recessive CN259033 13 Jun 2019 Disease Heterotaxy, visceral, 7, autosomal NCBI curation C4225217 616749 16 Feb 2016 Disease Heterotaxy, visceral, 8, autosomal NCBI curation C4310668 617205 20 Jun 2017 Disease Heterotaxy, visceroatrial, autosomal recessive NCBI curation 16 Feb 2016 Disease Heterotopia Human Phenotype Ontology C0008519 HP:0002282 16 Feb 2016 Finding Heterotopia, periventricular nodular, with frontometaphyseal dysplasia NCBI curation 16 Feb 2016 Disease HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT, WITH MELNICK-NEEDLES SYNDROME 16 Feb 2016 Disease Heterotopia, periventricular, associated with chromosome 5p anomalies NCBI curation C1842562 608098 16 Feb 2016 Disease Heterotopia, periventricular, autosomal recessive NCBI curation C1842563 608097 16 Feb 2016 Disease Heterotopia, periventricular, with frontometaphyseal dysplasia NCBI curation C4016451 16 Feb 2016 Disease Heterotopia, small areas 23 Jan 2020 Finding HEXA, Czechoslovakian allele NCBI curation 16 Feb 2016 Disease Hexa, dn allele NCBI curation 16 Feb 2016 Disease Hexasomy 12p, mosaic NCBI curation C2748628 16 Feb 2016 Disease HEXB POLYMORPHISM 16 Feb 2016 Disease Hexosaminidase A deficiency, adult type NCBI curation C1848914 16 Feb 2016 Disease Hexosaminidase B (paris) NCBI curation C4016989 24 Aug 2016 Disease HEXOSAMINIDASE B, HEAT-LABILE POLYMORPHISM 16 Feb 2016 Disease Hexosaminidase c NCBI curation C1840583 142660 16 Feb 2016 Disease HEYN-SPROUL-JACKSON SYNDROME OMIM C5231475 618724 618724 04 Jan 2020 Disease HFE hemochromatosis, modifier of CN259020 13 Jun 2019 Disease HFE INTRONIC POLYMORPHISM 16 Feb 2016 Disease HFE POLYMORPHISM 16 Feb 2016 Disease Hhhh syndrome NCBI curation C1844019 306960 24 Aug 2016 Disease Hhypotonia 15 Mar 2018 Finding Hiatal hernia Human Phenotype Ontology C3489393 HP:0002036 142400 10 Apr 2018 Disease Hiatus hernia 27 Apr 2018 Finding Hibernoma MONDO C0205822 MONDO:0021168 17 Apr 2020 Disease Hidradenitis MONDO C0085160 MONDO:0002260 17 Apr 2020 Disease Hidradenitis suppurativa, familial NCBI curation C1840560 16 Feb 2016 Disease Hidradenocarcinoma C0334344 16 Feb 2016 Disease Hidradenoma MONDO MONDO:0002805 17 Apr 2020 Disease Hidrocystoma MONDO C0206672 MONDO:0006787 17 Apr 2020 Disease Hidrotic ectodermal dysplasia syndrome C0162361 129500 16 Feb 2016 Disease Hidrotic ectodermal dysplasia, Christianson-Fourie type MONDO C1832411 MONDO:0011063 601375 22 Apr 2020 Disease Hidrotic ectodermal dysplasia, Halal type MONDO C2930953 MONDO:0015883 22 Apr 2020 Disease High altitude pulmonary edema C0340552 178400 16 Feb 2016 Disease High and broad forehead 23 Jan 2020 Finding High anorectal malformation MONDO C0345210 MONDO:0015731 17 Apr 2020 Disease High anterior hairline Human Phenotype Ontology C3276036 HP:0009890 16 Feb 2016 Finding High axial triradius Human Phenotype Ontology C4025806 HP:0001042 16 Feb 2016 Finding High BMI 09 Jan 2019 Finding High bone mass NCBI curation C1866080 16 Feb 2016 Disease High bone mass osteogenesis imperfecta C5190607 15 Oct 2019 Disease High CSF lactic acid CN228271 16 Feb 2016 Finding High density lipoprotein cholesterol level quantitative trait locus 1 NCBI curation C1847758 606613 16 Feb 2016 Disease High density lipoprotein cholesterol level quantitative trait locus 10 NCBI curation C3149463 16 Feb 2016 Disease High density lipoprotein cholesterol level quantitative trait locus 11 NCBI curation C1969232 16 Feb 2016 Disease High density lipoprotein cholesterol level quantitative trait locus 12 NCBI curation C2675071 612797 16 Feb 2016 Disease High density lipoprotein cholesterol level quantitative trait locus 13 NCBI curation 16 Feb 2016 Disease High density lipoprotein cholesterol level quantitative trait locus 14 NCBI curation C3551749 605201 24 Aug 2016 Disease High density lipoprotein cholesterol level quantitative trait locus 2 NCBI curation C1846886 607053 16 Feb 2016 Disease High density lipoprotein cholesterol level quantitative trait locus 3 NCBI curation C1843212 607687 16 Feb 2016 Disease High density lipoprotein cholesterol level quantitative trait locus 4 NCBI curation C1853253 610239 16 Feb 2016 Disease High density lipoprotein cholesterol level quantitative trait locus 5 NCBI curation C1853097 610761 16 Feb 2016 Disease High density lipoprotein cholesterol level quantitative trait locus 6 NCBI curation C1853096 610762 16 Feb 2016 Disease High density lipoprotein cholesterol level quantitative trait locus 7 NCBI curation C3888126 16 Feb 2016 Disease High density lipoprotein cholesterol level quantitative trait locus 8 NCBI curation C3888129 16 Feb 2016 Disease High density lipoprotein cholesterol level quantitative trait locus 9 NCBI curation C1969386 16 Feb 2016 Disease High density lipoprotein deficiency, Detroit type NCBI curation C4017419 25 May 2017 Disease High efavirenz plasma levels CN207623 16 Feb 2016 Finding High fasting glucose level outside pregnancy, lower BMI 25 Jul 2017 Finding High forehead Human Phenotype Ontology C0239676 HP:0000348 16 Feb 2016 Finding High frontal implantation of hair 23 Jan 2020 Finding High grade B-cell lymphoma MONDO C0456863 MONDO:0044889 17 Apr 2020 Disease High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement MONDO CN776836 MONDO:0018813 17 Apr 2020 Disease High grade malignant neoplasm MONDO C1334017 MONDO:0020665 17 Apr 2020 Disease High Grade Surface Osteosarcoma C1266165 15 Mar 2019 Disease High iliac wings Human Phenotype Ontology C1969680 HP:0008808 16 Feb 2016 Finding High insertion of columella Human Phenotype Ontology C4020909 HP:0012807 16 Feb 2016 Finding High intestinal obstruction Human Phenotype Ontology C4025227 HP:0005250 16 Feb 2016 Finding High maternal serum alpha-fetoprotein Human Phenotype Ontology C4023361 HP:0011432 16 Feb 2016 Finding High maternal serum chorionic gonadotropin Human Phenotype Ontology C4021150 HP:0011433 16 Feb 2016 Finding High molecular weight kininogen deficiency C0272340 228960 16 Feb 2016 Disease High myoinositol in brain by MRS Human Phenotype Ontology C4476792 HP:0025460 04 Apr 2018 Finding High nonceruloplasmin-bound serum copper Human Phenotype Ontology C1848459 HP:0010838 16 Feb 2016 Finding High output heart failure MONDO C0221045 MONDO:0005253 17 Apr 2020 Disease High palate Human Phenotype Ontology C0240635 HP:0000218 16 Feb 2016 Finding High pitched voice Human Phenotype Ontology C0241703 HP:0001620 16 Feb 2016 Finding High posterior hairline Human Phenotype Ontology C4022692 HP:0012891 16 Feb 2016 Finding High pressure neurological syndrome MONDO C0019537 MONDO:0002570 17 Apr 2020 Disease High pulse pressure Human Phenotype Ontology C0855323 HP:0030852 02 Apr 2017 Finding high serum bile salts 04 Feb 2019 Disease High serum calcifediol Human Phenotype Ontology C4531137 HP:0031414 04 Apr 2018 Finding High serum calcitriol Human Phenotype Ontology C4531136 HP:0031415 04 Apr 2018 Finding High urinary gonadotropin level Human Phenotype Ontology C4025606 HP:0003492 02 Apr 2017 Finding High, narrow palate Human Phenotype Ontology C1837404 HP:0002705 16 Feb 2016 Finding High-arched palate 30 Mar 2018 Finding High-frequency hearing impairment Human Phenotype Ontology C0018780 HP:0005101 16 Feb 2016 Finding High-frequency sensorineural hearing impairment Human Phenotype Ontology C4021775 HP:0001757 16 Feb 2016 Finding High-grade hypermetropia Human Phenotype Ontology C4024665 HP:0008499 16 Feb 2016 Finding High-grade neuroendocrine carcinoma of the cervix uteri MONDO C4751235 MONDO:0016276 17 Apr 2020 Disease High-grade neuroendocrine carcinoma of the corpus uteri MONDO CN261361 MONDO:0016269 17 Apr 2020 Disease High-molecular-weight kininogen deficiency, congenital 16 Feb 2016 Disease High-output congestive heart failure Human Phenotype Ontology C0742747 HP:0001722 16 Feb 2016 Finding High-pitched cry Human Phenotype Ontology C0239154 HP:0025430 04 Apr 2018 Finding Highly arched eyebrow Human Phenotype Ontology C1868571 HP:0002553 16 Feb 2016 Finding highly arched palate 05 Sep 2018 Finding Highly elevated creatine phosphokinase Human Phenotype Ontology C4022565 HP:0030234 16 Feb 2016 Finding Hillig syndrome 16 Feb 2016 Disease Hing Torack Dowston syndrome 16 Feb 2016 Disease Hinman syndrome MONDO C1997362 MONDO:0019395 17 Apr 2020 Disease Hinson-Pepys disease 16 Feb 2016 Disease Hip contracture Human Phenotype Ontology C0409354 HP:0003273 16 Feb 2016 Finding Hip dislocation Human Phenotype Ontology C0019554 HP:0002827 16 Feb 2016 Finding Hip dysplasia Human Phenotype Ontology CN971197 HP:0001385 16 Feb 2016 Disease Hip dysplasia Human Phenotype Ontology CN971197 HP:0008787 16 Feb 2016 Disease Hip dysplasia, congenital, nonsyndromic NCBI curation 16 Feb 2016 Disease Hip dysplasia, developmental NCBI curation CN184219 16 Feb 2016 Disease Hip flexor weakness Human Phenotype Ontology C3279725 HP:0012515 16 Feb 2016 Finding Hip fracture MONDO MONDO:0005327 17 Apr 2020 Disease Hip joint hypermobility Human Phenotype Ontology C0574977 HP:0045087 04 Apr 2018 Finding Hip luxation 16 Feb 2016 Disease Hip pain Human Phenotype Ontology C4551516 HP:0030838 02 Apr 2017 Finding Hip region disease MONDO C1290862 MONDO:0044988 17 Apr 2020 Disease Hip subluxation Human Phenotype Ontology C0434785 HP:0030043 04 Apr 2018 Disease Hipo syndrome 16 Feb 2016 Disease Hippocampal sclerosis of aging MONDO MONDO:0005544 17 Apr 2020 Disease Hirano bodies Human Phenotype Ontology C0521178 HP:0100316 16 Feb 2016 Finding Hirschsprung disease OMIM phenotypic series C0019569 PS142623 13 Jan 2017 Disease Hirschsprung disease Orphanet C0019569 ORPHA388 13 Jan 2017 Disease Hirschsprung disease 1 NCBI curation C3888239 142623 16 Feb 2016 Disease Hirschsprung disease 2 NCBI curation C1838564 600155 16 Feb 2016 Disease Hirschsprung disease 3 NCBI curation C3150974 613711 16 Feb 2016 Disease Hirschsprung disease 4 NCBI curation C3150975 613712 16 Feb 2016 Disease Hirschsprung disease 5 NCBI curation C1970723 600156 16 Feb 2016 Disease Hirschsprung disease 6 NCBI curation C1969837 606874 16 Feb 2016 Disease Hirschsprung disease 7 NCBI curation C1969836 606875 16 Feb 2016 Disease Hirschsprung disease 8 NCBI curation C1969482 608462 16 Feb 2016 Disease Hirschsprung disease 9 NCBI curation C1968840 611644 16 Feb 2016 Disease Hirschsprung disease type D brachydactyly NCBI curation C1844017 306980 16 Feb 2016 Disease Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly NCBI curation C1858696 604211 16 Feb 2016 Disease Hirschsprung disease with polydactyly, renal agenesis, and deafness NCBI curation C1856112 235740 16 Feb 2016 Disease Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect MONDO C1856111 MONDO:0009343 235750 17 Apr 2020 Disease Hirschsprung disease, cardiac defects, and autonomic dysfunction NCBI curation C3151237 613870 16 Feb 2016 Disease Hirschsprung Disease, Dominant CN239304 02 Dec 2016 Disease Hirschsprung disease, protection against NCBI curation C3888125 16 Feb 2016 Disease Hirschsprung Disease, Recessive CN239285 02 Dec 2016 Disease HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 10 16 Feb 2016 Disease Hirschsprung disease-mental retardation syndrome, late infantile NCBI curation C4016949 16 Feb 2016 Disease Hirschsprung disease-nail hypoplasia-dysmorphism syndrome MONDO C1856110 MONDO:0009344 235760 17 Apr 2020 Disease Hirschsprung microcephaly cleft palate 16 Feb 2016 Disease Hirschsprung nail hypoplasia dysmorphism 16 Feb 2016 Disease Hirsutism Human Phenotype Ontology C0019572 HP:0001007 16 Feb 2016 Finding Hirsutism skeletal dysplasia mental retardation 16 Feb 2016 Disease Hirsutism-skeletal dysplasia-intellectual disability syndrome MONDO C3149452 MONDO:0007724 142625 17 Apr 2020 Disease Hirudiniasis MONDO C0019575 MONDO:0001191 04 Jun 2020 Infectious disease His bundle tachycardia 16 Feb 2016 Disease HIS2*1/HIS2*2 POLYMORPHISM 16 Feb 2016 Disease Histidine transport defect NCBI curation C0268642 235830 16 Feb 2016 Disease Histidinemia Human Phenotype Ontology C0220992 HP:0010906 235800 10 Apr 2018 Disease Histiocytic dermatoarthritis NCBI curation C1840551 142730 16 Feb 2016 Disease Histiocytic medullary reticulosis NCBI curation C2700553 603554 16 Feb 2016 Disease Histiocytic sarcoma MONDO C0334663 MONDO:0019479 17 Apr 2020 Disease Histiocytoid cardiomyopathy MONDO C1708371 MONDO:0010771 500000 17 Apr 2020 Disease Histiocytoid cardiomyopathy Human Phenotype Ontology C1708371 HP:0005152 500000 17 Apr 2020 Disease Histiocytoma Human Phenotype Ontology C1509147 HP:0012315 16 Feb 2016 Finding Histiocytosis Human Phenotype Ontology C0019618 HP:0100727 16 Feb 2016 Finding Histiocytosis, progressive mucinous NCBI curation C1840586 142630 16 Feb 2016 Disease Histiocytosis-lymphadenopathy plus syndrome NCBI curation C1864445 602782 16 Feb 2016 Disease Histone Methylation Therapy response 04 May 2018 Pharmacological response Histoplasma capsulatum infectious disease MONDO CN281743 MONDO:0002099 04 Jun 2020 Infectious disease Histoplasma pericarditis MONDO C0153279 MONDO:0000981 04 Jun 2020 Infectious disease Histoplasmosis MONDO C0019655 MONDO:0018312 04 Jun 2020 Infectious disease Histoplasmosis meningitis MONDO CN281737 MONDO:0001471 04 Jun 2020 Infectious disease Histoplasmosis retinitis MONDO C0153278 MONDO:0001263 04 Jun 2020 Infectious disease history of congenital glaucoma 22 Oct 2019 Finding History of femur fracture 23 Jan 2020 Finding History of neonatal hypotonia CN228299 16 Feb 2016 Finding History of neurodevelopmental disorder NCBI curation C2711754 12 Dec 2018 Disease History of polyhydramnios CN235280 19 Feb 2016 Finding History of Sudden Cardiac Death C2825161 16 Feb 2016 Finding History of tracheoesophageal fistula C4041464 18 Jan 2019 Finding history of VSD 05 Sep 2019 Finding Histrionic personality disorder Human Phenotype Ontology C0019681 HP:0012077 16 Feb 2016 Finding Histrionic personality disorder (disease) MONDO MONDO:0002613 17 Apr 2020 Disease Hitchhiker thumb Human Phenotype Ontology C0431887 HP:0001234 16 Feb 2016 Finding HIV enteropathy MONDO C0282616 MONDO:0005796 17 Apr 2020 Disease HIV Infections PharmGKB CN236632 18 May 2016 Disease HIV wasting syndrome MONDO C0343755 MONDO:0005797 04 Jun 2020 Infectious disease HIV-1 viremia, susceptibility to NCBI curation C4016207 16 Feb 2016 Disease HIV-1, resistance to NCBI curation C1836231 16 Feb 2016 Finding HIV-associated cancer MONDO CN237671 MONDO:0018628 17 Apr 2020 Disease HIV-associated nephropathy MONDO C0078911 MONDO:0005798 17 Apr 2020 Disease HIV;HIV Infections PharmGKB 17 Feb 2017 Disease HIV;Tuberculosis PharmGKB 17 Feb 2017 Disease HIVEP2-Related Disorder 13 Oct 2017 Disease HLA matching of hematopoietic stem cell transplant donors and recipients and other clinical indications CN263264 11 Feb 2020 Disease Hla modifier NCBI curation C1840550 142770 16 Feb 2016 Disease Hm syndrome 16 Feb 2016 Disease HMG CoA reductase inhibitors response - Efficacy NCBI curation CN236511 06 Jul 2018 Pharmacological response hmg coa reductase inhibitors response - Efficacy, Toxicity/ADR PharmGKB 1444668444PA133950441 06 Jul 2018 Pharmacological response hmg coa reductase inhibitors response - Toxicity/ADR PharmGKB CN236512 1183679122 18 May 2016 Pharmacological response hmg coa reductase inhibitors response - Toxicity/ADR, Metabolism/PK PharmGKB CN240596 981345382 17 Feb 2017 Pharmacological response HMG CoA synthetase deficiency CN072869 16 Feb 2016 Disease HMSN 21 Aug 2017 Finding HNRNPA1-related multisystem proteinopathy 07 May 2020 Finding HNSHA due to aldolase A deficiency C0272066 611881 16 Feb 2016 Disease Ho-Kaufman-McAlister syndrome MONDO C2931819 MONDO:0023368 22 Apr 2020 Disease Hoarse cry Human Phenotype Ontology C2678303 HP:0001615 16 Feb 2016 Finding Hoarse voice Human Phenotype Ontology C0019825 HP:0001609 16 Feb 2016 Finding Hoarse voice (caused by tumor impingement) C1854348 16 Feb 2016 Finding Hobnail hemangioma MONDO C0346076 MONDO:0003258 17 Apr 2020 Disease Hodgkin lymphoma Human Phenotype Ontology C0019829 HP:0012189 236000 16 Feb 2016 Disease Hodgkin lymphoma, childhood 16 Feb 2016 Disease Hodgkin lymphoma, during pregnancy 16 Feb 2016 Disease Hodgkin's lymphoma, lymphocytic depletion MONDO MONDO:0004620 17 Apr 2020 Disease Hodgkin's lymphoma, lymphocytic-histiocytic predominance MONDO MONDO:0004604 17 Apr 2020 Disease Hodgkin's lymphoma, mixed cellularity MONDO MONDO:0004633 17 Apr 2020 Disease Hodgkin's paragranuloma MONDO MONDO:0004626 17 Apr 2020 Disease Hole retinal cyst MONDO C1261331 MONDO:0001663 17 Apr 2020 Disease Holmes Borden syndrome 16 Feb 2016 Disease Holmes Collins syndrome 16 Feb 2016 Disease Holmes-Adie syndrome MONDO C0001519 MONDO:0018690 103100 17 Apr 2020 Disease Holoacardius amorphus C0266719 16 Feb 2016 Disease Holocarboxylase synthetase deficiency C0268581 253270 16 Feb 2016 Disease Holoprosencephaly 1 NCBI curation C1856096 236100 16 Feb 2016 Disease Holoprosencephaly 11 NCBI curation C3280215 614226 16 Feb 2016 Disease HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS OMIM C5193131 618500 618500 24 Jul 2019 Disease HOLOPROSENCEPHALY 13, X-LINKED OMIM CN272930 301043 301043 15 Apr 2020 Disease Holoprosencephaly 2 NCBI curation C1834877 157170 16 Feb 2016 Disease Holoprosencephaly 3 NCBI curation C1840529 142945 16 Feb 2016 Disease Holoprosencephaly 4 NCBI curation C1840528 142946 16 Feb 2016 Disease Holoprosencephaly 5 NCBI curation C1864827 609637 16 Feb 2016 Disease Holoprosencephaly 6 NCBI curation C1853830 605934 16 Feb 2016 Disease Holoprosencephaly 7 NCBI curation C1835820 610828 16 Feb 2016 Disease Holoprosencephaly 8 NCBI curation C1836254 609408 16 Feb 2016 Disease Holoprosencephaly 9 NCBI curation C1835819 610829 16 Feb 2016 Disease Holoprosencephaly caudal dysgenesis CN072874 16 Feb 2016 Disease Holoprosencephaly deletion 2p CN072875 16 Feb 2016 Disease Holoprosencephaly ectrodactyly cleft lip palate CN072876 16 Feb 2016 Disease Holoprosencephaly radial heart renal anomalies CN072877 16 Feb 2016 Disease Holoprosencephaly sequence NCBI curation C0079541 16 Feb 2016 Disease Holoprosencephaly with fetal akinesia/hypokinesia sequence NCBI curation C1844016 306990 16 Feb 2016 Disease Holoprosencephaly, recurrent infections, and monocytosis C1853187 610680 16 Feb 2016 Disease Holoprosencephaly-caudal dysgenesis syndrome MONDO CN201097 MONDO:0016299 17 Apr 2020 Disease Holoprosencephaly-craniosynostosis syndrome MONDO C1832424 MONDO:0011059 601370 17 Apr 2020 Disease Holoprosencephaly-postaxial polydactyly syndrome MONDO C1849649 MONDO:0009921 264480 17 Apr 2020 Disease Holoprosencephaly-radial heart renal anomalies syndrome MONDO C1866649 MONDO:0008488 184705 17 Apr 2020 Disease Holt-Oram syndrome NCBI curation C0265264 142900 16 Feb 2016 Disease Holzgreve-Wagner-Rehder syndrome MONDO C1856095 MONDO:0009350 236110 17 Apr 2020 Disease Homocarnosinosis NCBI curation C0268632 236130 16 Feb 2016 Disease Homocysteine, total plasma, elevated NCBI curation C4017108 16 Feb 2016 Disease Homocystinuria Human Phenotype Ontology C0019880 HP:0002156 16 Feb 2016 Disease Homocystinuria due to defect in methylation cbl e 16 Feb 2016 Disease Homocystinuria due to defect in methylation cbl g 16 Feb 2016 Disease Homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO C1856058 MONDO:0009353 236250 17 Apr 2020 Disease Homocystinuria due to MTHFR deficiency NCBI curation C4017062 16 Feb 2016 Disease Homocystinuria without methylmalonic aciduria C4303479 23 Aug 2019 Disease Homocystinuria, cblD type, variant 1 NCBI curation C1848553 16 Feb 2016 Disease Homocystinuria, pyridoxine-nonresponsive NCBI curation C4017308 16 Feb 2016 Disease Homocystinuria, pyridoxine-responsive NCBI curation C3502110 16 Feb 2016 Disease Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type NCBI curation C1856057 236270 16 Feb 2016 Disease Homologous wasting disease 16 Feb 2016 Disease Homonymous hemianopia Human Phenotype Ontology C0271202 HP:0030516 16 Feb 2016 Finding Homosexuality 1 NCBI curation C1415621 306995 16 Feb 2016 Disease Homozygous 11p15-p14 deletion syndrome NCBI curation C1847866 606528 16 Feb 2016 Disease Homozygous 2p21 microdeletion syndrome MONDO CN204808 MONDO:0018246 17 Apr 2020 Disease Homozygous familial hypercholesterolemia MONDO C0342881 MONDO:0018328 17 Apr 2020 Disease Homozygous hypobetalipoproteinemia 16 Feb 2016 Disease Honey-droplet corneal dystrophy MONDO CN207218 MONDO:0020363 17 Apr 2020 Disease Honeycomb lung Human Phenotype Ontology C0241984 HP:0025175 02 Apr 2017 Finding Honeycomb palmoplantar keratoderma Human Phenotype Ontology C1866032 HP:0007465 16 Feb 2016 Finding Hooded eyelid Human Phenotype Ontology C3277348 HP:0030820 02 Apr 2017 Finding Hooded lower eyelid Human Phenotype Ontology C4280750 HP:0030821 02 Apr 2017 Finding Hooded upper eyelid Human Phenotype Ontology C4280749 HP:0030822 02 Apr 2017 Finding Hooft's syndrome C0268479 236300 16 Feb 2016 Disease Hookworm infectious disease MONDO CN281785 MONDO:0005799 04 Jun 2020 Infectious disease Hoon Hall syndrome 16 Feb 2016 Disease Hordeolum Human Phenotype Ontology C0019917 HP:0010606 16 Feb 2016 Finding Hordeolum externum Human Phenotype Ontology C0019919 HP:0010607 16 Feb 2016 Finding Hordeolum internum Human Phenotype Ontology C0085690 HP:0010608 16 Feb 2016 Finding Hordnes Engebretsen Knudtson syndrome C2931100 16 Feb 2016 Disease Horizontal crus of helix Human Phenotype Ontology C4021379 HP:0009897 16 Feb 2016 Finding Horizontal eyebrow Human Phenotype Ontology C3277019 HP:0011228 16 Feb 2016 Finding Horizontal inferior border of scapula Human Phenotype Ontology C3806511 HP:0031233 04 Apr 2018 Finding Horizontal jerk nystagmus Human Phenotype Ontology C4024910 HP:0007286 16 Feb 2016 Finding Horizontal nystagmus Human Phenotype Ontology C0271385 HP:0000666 16 Feb 2016 Finding Horizontal opticokinetic nystagmus Human Phenotype Ontology C4024754 HP:0008026 16 Feb 2016 Finding Horizontal pendular nystagmus Human Phenotype Ontology C1866180 HP:0007811 16 Feb 2016 Finding Horizontal ribs Human Phenotype Ontology C3806510 HP:0000888 16 Feb 2016 Finding Horizontal sacrum Human Phenotype Ontology C1850558 HP:0003440 16 Feb 2016 Finding Horizontal supranuclear gaze palsy Human Phenotype Ontology C4024794 HP:0007817 16 Feb 2016 Finding hormonal contraceptives for systemic use response - Toxicity/ADR PharmGKB CN236515 1183689558 18 May 2016 Pharmacological response Hormone-resistant breast carcinoma MONDO C4049259 MONDO:0056813 17 Apr 2020 Disease Hormone-resistant prostate carcinoma MONDO C3898877 MONDO:0056814 17 Apr 2020 Disease Horn Kolb syndrome 16 Feb 2016 Disease Horned turban snail allergy MONDO MONDO:0000806 17 Apr 2020 Disease Horner syndrome Human Phenotype Ontology C0019937 HP:0002277 16 Feb 2016 Finding Horner's syndrome 06 Sep 2019 Finding Hornova Dlurosova syndrome 16 Feb 2016 Disease Horns in sheep NCBI curation 16 Feb 2016 Disease Horse disease MONDO C0019940 MONDO:0024950 17 Apr 2020 Disease Horseshoe kidney Human Phenotype Ontology C0221353 HP:0000085 16 Feb 2016 Finding Horton's disease 16 Feb 2016 Disease Hostility Human Phenotype Ontology C0020039 HP:0031473 04 Apr 2018 Finding Hot flashes Human Phenotype Ontology C0600142 HP:0031217 04 Apr 2018 Finding Hot water reflex epilepsy Orphanet C4706506 ORPHA166412 16 Feb 2016 Disease Houlston Ironton Temple syndrome 16 Feb 2016 Disease House allergic alveolitis MONDO C4511048 MONDO:0020535 17 Apr 2020 Disease Howard Young syndrome 16 Feb 2016 Disease Hoyeraal syndrome 16 Feb 2016 Disease Hoyeraal-Hreidarsson syndrome MONDO C1846142 MONDO:0018045 22 Apr 2020 Disease HP 02 Aug 2018 Finding HP:0000047,HP:0002194,HP:0001622,HP:0000750,HP:0000717,HP:0001252 02 Sep 2016 Finding HP:0000062,HP:0010880,HP:0001539,HP:0002119 02 Sep 2016 Finding HP:0000126,HP:0001263,HP:0001290 02 Sep 2016 Finding HP:0000126,HP:0002315,HP:0002069 02 Sep 2016 Finding HP:0000175,HP:0000750 02 Sep 2016 Finding HP:0000175,HP:0001762 02 Sep 2016 Finding HP:0000175,HP:0001999 02 Sep 2016 Finding HP:0000175,HP:0001999,HP:0001100,HP:0000767,HP:0000204 02 Sep 2016 Finding HP:0000204,HP:0000238,HP:0001305,HP:0001511,HP:0001274,HP:0000104,HP:0000175 02 Sep 2016 Finding HP:0000238,HP:0000541,HP:0001087 02 Sep 2016 Finding HP:0000252,HP:0000750 02 Sep 2016 Finding HP:0000252,HP:0001250,HP:0001508 02 Sep 2016 Finding HP:0000252,HP:0001263 02 Sep 2016 Finding HP:0000252,HP:0001274 02 Sep 2016 Finding HP:0000252,HP:0002119,HP:0001511 02 Sep 2016 Finding HP:0000252,HP:0004322 02 Sep 2016 Finding HP:0000256,HP:0000193,HP:0001385,HP:0001999 02 Sep 2016 Finding HP:0000256,HP:0010862,HP:0001510,HP:0002194,HP:0001263 02 Sep 2016 Finding HP:0000271,HP:0001263,HP:0000929 02 Sep 2016 Finding HP:0000280,HP:0000268,HP:0000708,HP:0001999 02 Sep 2016 Finding HP:0000280,HP:0001622,HP:0002020 02 Sep 2016 Finding HP:0000303,HP:0001631,HP:0000750,HP:0005280 02 Sep 2016 Finding HP:0000324,HP:0001250 02 Sep 2016 Finding HP:0000347,HP:0000189,HP:0010511,HP:0002311,HP:0007946,HP:0001252,HP:0000369,HP:0000126,HP:0000508,HP:0002194,HP:0000535 02 Sep 2016 Finding HP:0000347,HP:0000369 02 Sep 2016 Finding HP:0000364,HP:0004467,HP:0001629 02 Sep 2016 Finding HP:0000365,HP:0000829 02 Sep 2016 Finding HP:0000407,HP:0001903,HP:0002028,HP:0000938,HP:0001761,HP:0100280,HP:0001369,HP:0000821,HP:0009049,HP:0009020 02 Sep 2016 Finding HP:0000407,HP:0010862,HP:0000938,HP:0001328,HP:0001249,HP:0001263 02 Sep 2016 Finding HP:0000476,HP:0010948 02 Sep 2016 Finding HP:0000496,HP:0004322 02 Sep 2016 Finding HP:0000518,HP:0000526 02 Sep 2016 Finding HP:0000545,HP:0010863,HP:0001999 02 Sep 2016 Finding HP:0000568,HP:0002092 02 Sep 2016 Finding HP:0000582,HP:0001999,HP:0000639,HP:0002194,HP:0003196,HP:0010862,HP:0000343,HP:0001622,HP:0000219 02 Sep 2016 Finding HP:0000601,HP:0001360,HP:0001305 02 Sep 2016 Finding HP:0000622,HP:0000739,HP:0000556,HP:0000732,HP:0000613,HP:0100023 02 Sep 2016 Finding HP:0000716,HP:0001537,HP:0000739 02 Sep 2016 Finding HP:0000717,HP:0000256 02 Sep 2016 Finding HP:0000717,HP:0000750 02 Sep 2016 Finding HP:0000717,HP:0001249 02 Sep 2016 Finding HP:0000717,HP:0001250 02 Sep 2016 Finding HP:0000717,HP:0001251,HP:0002194,HP:0010862,HP:0012448,HP:0100851,HP:0000733 02 Sep 2016 Finding HP:0000717,HP:0001252,HP:0000750,HP:0001249,HP:0002194 02 Sep 2016 Finding HP:0000717,HP:0001263 02 Sep 2016 Finding HP:0000717,HP:0001328,HP:0000256,HP:0004322 02 Sep 2016 Finding HP:0000717,HP:0001328,HP:0002194,HP:0010862 02 Sep 2016 Finding HP:0000717,HP:0002625,HP:0000486,HP:0001409,HP:0000822,HP:0001287,HP:0002204,HP:0002020 02 Sep 2016 Finding HP:0000717,HP:0010862,HP:0000722,HP:0002019,HP:0002028,HP:0011097,HP:0000589,HP:0002194,HP:0000750 02 Sep 2016 Finding HP:0000717,HP:0100006,HP:0000821 02 Sep 2016 Finding HP:0000729,HP:0001249 02 Sep 2016 Finding HP:0000729,HP:0007018,HP:0100851 02 Sep 2016 Finding HP:0000750,HP:0000717,HP:0001249,HP:0007359,HP:0001328,HP:0100851 02 Sep 2016 Finding HP:0000750,HP:0001508,HP:0100259,HP:0001601 02 Sep 2016 Finding HP:0000750,HP:0001511,HP:0002194,HP:0001508,HP:0010862 02 Sep 2016 Finding HP:0000750,HP:0002194,HP:0001252 02 Sep 2016 Finding HP:0000750,HP:0007018,HP:0100851 02 Sep 2016 Finding HP:0000750,HP:0007370,HP:0000238,HP:0000256,HP:0001562,HP:0000648,HP:0002311,HP:0001371,HP:0002410,HP:0002019,HP:0001181,HP:0011318,HP:0001762,HP:0001252,HP:0001622,HP:0010862,HP:0000505,HP:0002360,HP:0002194 02 Sep 2016 Finding HP:0000750,HP:0010862,HP:0002194,HP:0001508 02 Sep 2016 Finding HP:0000762,HP:0009049,HP:0007349,HP:0001761 02 Sep 2016 Finding HP:0000763,HP:0001765,HP:0009020,HP:0001761 02 Sep 2016 Finding HP:0000767,HP:0000717,HP:0001166 02 Sep 2016 Finding HP:0000767,HP:0000739,HP:0007018,HP:0000545 02 Sep 2016 Finding HP:0000792,HP:0001508,HP:0002020,HP:0002019 02 Sep 2016 Finding HP:0000813,HP:0000104,HP:0008694 02 Sep 2016 Finding HP:0000819,HP:0001324,HP:0002650,HP:0007349,HP:0009020,HP:0005978,HP:0003040 02 Sep 2016 Finding HP:0000821,HP:0001315,HP:0002460,HP:0009830,HP:0007349,HP:0000020,HP:0002315,HP:0001337,HP:0001324 02 Sep 2016 Finding HP:0000822,HP:0004415 02 Sep 2016 Finding HP:0000824,HP:0001305 02 Sep 2016 Finding HP:0001159,HP:0001263,HP:0000639 02 Sep 2016 Finding HP:0001161,HP:0000175 02 Sep 2016 Finding HP:0001166,HP:0002107,HP:0001371 02 Sep 2016 Finding HP:0001195,HP:0000104 02 Sep 2016 Finding HP:0001195,HP:0011968,HP:0004383 02 Sep 2016 Finding HP:0001249,HP:0000717 02 Sep 2016 Finding HP:0001249,HP:0000717,HP:0010862,HP:0002121,HP:0002194,HP:0000750,HP:0002069 02 Sep 2016 Finding HP:0001249,HP:0000750,HP:0010862,HP:0001622,HP:0001252,HP:0002194 02 Sep 2016 Finding HP:0001249,HP:0002194,HP:0000505,HP:0001252,HP:0010862,HP:0002069,HP:0002650,HP:0007359,HP:0001324,HP:0002197,HP:0000750,HP:0000407,HP:0002376 02 Sep 2016 Finding HP:0001249,HP:0002194,HP:0000708,HP:0001328,HP:0010862,HP:0001629,HP:0000750 02 Sep 2016 Finding HP:0001249,HP:0002194,HP:0001263 02 Sep 2016 Finding HP:0001250,HP:0000252,HP:0000486,HP:0001249,HP:0001321 02 Sep 2016 Finding HP:0001250,HP:0001249,HP:0000717 02 Sep 2016 Finding HP:0001250,HP:0002076,HP:0001382 02 Sep 2016 Finding HP:0001250,HP:0002133 02 Sep 2016 Finding HP:0001252,HP:0001263,HP:0000717 02 Sep 2016 Finding HP:0001252,HP:0002123,HP:0002019,HP:0001257,HP:0002194,HP:0010862,HP:0001276,HP:0001332,HP:0001622 02 Sep 2016 Finding HP:0001252,HP:0002194,HP:0001629,HP:0000202,HP:0000750 02 Sep 2016 Finding HP:0001252,HP:0002194,HP:0010862,HP:0002376,HP:0001622,HP:0100851 02 Sep 2016 Finding HP:0001252,HP:0002197,HP:0002020,HP:0011097 02 Sep 2016 Finding HP:0001252,HP:0002373,HP:0001156,HP:0000252 02 Sep 2016 Finding HP:0001252,HP:0011342 02 Sep 2016 Finding HP:0001263,HP:0000175 02 Sep 2016 Finding HP:0001263,HP:0000175,HP:0000204,HP:0000717 02 Sep 2016 Finding HP:0001263,HP:0000252 02 Sep 2016 Finding HP:0001263,HP:0000256 02 Sep 2016 Finding HP:0001263,HP:0000256,HP:0002311,HP:0001290 02 Sep 2016 Finding HP:0001263,HP:0000508,HP:0001999 02 Sep 2016 Finding HP:0001263,HP:0000717 02 Sep 2016 Finding HP:0001263,HP:0000717,HP:0000407 02 Sep 2016 Finding HP:0001263,HP:0000733 02 Sep 2016 Finding HP:0001263,HP:0001250 02 Sep 2016 Finding HP:0001263,HP:0001252 02 Sep 2016 Finding HP:0001263,HP:0001252,HP:0000252,HP:0001845 02 Sep 2016 Finding HP:0001263,HP:0001548,HP:0000256 02 Sep 2016 Finding HP:0001263,HP:0001999,HP:0001508 02 Sep 2016 Finding HP:0001263,HP:0001999,HP:0001510 02 Sep 2016 Finding HP:0001263,HP:0002197 02 Sep 2016 Finding HP:0001263,HP:0008947,HP:0001513,HP:0000256 02 Sep 2016 Finding HP:0001274,HP:0001252,HP:0001263 02 Sep 2016 Finding HP:0001284,HP:0001765,HP:0001761,HP:0001324 02 Sep 2016 Finding HP:0001288,HP:0001263,HP:0001257,HP:0001256,HP:0004322 02 Sep 2016 Finding HP:0001288,HP:0001761,HP:0001315 02 Sep 2016 Finding HP:0001305,HP:0001511,HP:0010939 02 Sep 2016 Finding HP:0001305,HP:0001539,HP:0001508,HP:0011641,HP:0000368,HP:0000243 02 Sep 2016 Finding HP:0001305,HP:0001629,HP:0001188,HP:0004322,HP:0001274 02 Sep 2016 Finding HP:0001315,HP:0009831 02 Sep 2016 Finding HP:0001317,HP:0000252 02 Sep 2016 Finding HP:0001324,HP:0001761,HP:0000763 02 Sep 2016 Finding HP:0001324,HP:0001761,HP:0003457 02 Sep 2016 Finding HP:0001324,HP:0002370,HP:0001388,HP:0001252 02 Sep 2016 Finding HP:0001324,HP:0005692,HP:0001252 02 Sep 2016 Finding HP:0001328,HP:0000750,HP:0001250,HP:0010862,HP:0001257,HP:0001249,HP:0002194 02 Sep 2016 Finding HP:0001328,HP:0000750,HP:0002197,HP:0000256,HP:0001252,HP:0000717 02 Sep 2016 Finding HP:0001328,HP:0001249,HP:0000750,HP:0001332,HP:0001252,HP:0002194,HP:0002019,HP:0001250,HP:0010862,HP:0011097 02 Sep 2016 Finding HP:0001328,HP:0001252,HP:0002019,HP:0001249,HP:0000750 02 Sep 2016 Finding HP:0001328,HP:0001999,HP:0000684 02 Sep 2016 Finding HP:0001328,HP:0002197 02 Sep 2016 Finding HP:0001328,HP:0009088,HP:0000722,HP:0004322 02 Sep 2016 Finding HP:0001337,HP:0000750,HP:0010862,HP:0002194 02 Sep 2016 Finding HP:0001337,HP:0004976,HP:0001263,HP:0009542,HP:0001250 02 Sep 2016 Finding HP:0001339,HP:0007360 02 Sep 2016 Finding HP:0001339,HP:0011097 02 Sep 2016 Finding HP:0001357,HP:0001263 02 Sep 2016 Finding HP:0001357,HP:0001622,HP:0001263,HP:0000545 02 Sep 2016 Finding HP:0001371,HP:0001324 02 Sep 2016 Finding HP:0001371,HP:0001324,HP:0009020,HP:0002315,HP:0009830,HP:0001765,HP:0001761 02 Sep 2016 Finding HP:0001508,HP:0000717 02 Sep 2016 Finding HP:0001508,HP:0000750,HP:0000252,HP:0002194,HP:0010862 02 Sep 2016 Finding HP:0001508,HP:0000821,HP:0004322,HP:0000252,HP:0010862,HP:0000750,HP:0000414,HP:0002194,HP:0000347,HP:0001276,HP:0001510,HP:0001252,HP:0001999,HP:0008050 02 Sep 2016 Finding HP:0001508,HP:0001252,HP:0001263 02 Sep 2016 Finding HP:0001508,HP:0002194,HP:0000750,HP:0000252,HP:0004322,HP:0010862 02 Sep 2016 Finding HP:0001510,HP:0000821,HP:0000823,HP:0001249,HP:0001508,HP:0004322,HP:0001999 02 Sep 2016 Finding HP:0001510,HP:0004322,HP:0002028 02 Sep 2016 Finding HP:0001510,HP:0004322,HP:0010862,HP:0000717,HP:0000821,HP:0000750,HP:0002194 02 Sep 2016 Finding HP:0001510,HP:0011342 02 Sep 2016 Finding HP:0001511,HP:0001252,HP:0000175,HP:0001510 02 Sep 2016 Finding HP:0001511,HP:0001263 02 Sep 2016 Finding HP:0001511,HP:0001263,HP:0001508 02 Sep 2016 Finding HP:0001511,HP:0001561 02 Sep 2016 Finding HP:0001511,HP:0001562 02 Sep 2016 Finding HP:0001511,HP:0001629 02 Sep 2016 Finding HP:0001528,HP:0007018,HP:0000717,HP:0007441 02 Sep 2016 Finding HP:0001539,HP:0000062 02 Sep 2016 Finding HP:0001561,HP:0000047,HP:0001305 02 Sep 2016 Finding HP:0001595,HP:0001508,HP:0000964,HP:0002240,HP:0001824,HP:0004395 02 Sep 2016 Finding HP:0001629,HP:0001511 02 Sep 2016 Finding HP:0001629,HP:0001511,HP:0000750,HP:0001510,HP:0000252,HP:0001999,HP:0001622,HP:0002194,HP:0001508,HP:0010862,HP:0004322 02 Sep 2016 Finding HP:0001629,HP:0001631 02 Sep 2016 Finding HP:0001629,HP:0002119,HP:0001631 02 Sep 2016 Finding HP:0001631,HP:0000054,HP:0000473 02 Sep 2016 Finding HP:0001631,HP:0001629 02 Sep 2016 Finding HP:0001636,HP:0008572 02 Sep 2016 Finding HP:0001642,HP:0001636,HP:0001629 02 Sep 2016 Finding HP:0001647,HP:0001263,HP:0000028,HP:0000508 02 Sep 2016 Finding HP:0001761,HP:0000717 02 Sep 2016 Finding HP:0001761,HP:0001257,HP:0009049,HP:0001337,HP:0001324,HP:0009020,HP:0002072,HP:0009830 02 Sep 2016 Finding HP:0001761,HP:0009049,HP:0001677,HP:0001765 02 Sep 2016 Finding HP:0001761,HP:0009830 02 Sep 2016 Finding HP:0001761,HP:0010862,HP:0009830,HP:0001765,HP:0002194,HP:0001371 02 Sep 2016 Finding HP:0001762,HP:0000085 02 Sep 2016 Finding HP:0001762,HP:0000204,HP:0000175 02 Sep 2016 Finding HP:0001762,HP:0001252,HP:0001511 02 Sep 2016 Finding HP:0001765,HP:0001761,HP:0000821,HP:0002020 02 Sep 2016 Finding HP:0001863,HP:0000325,HP:0000470,HP:0001999,HP:0000368,HP:0000308 02 Sep 2016 Finding HP:0001873,HP:0001622 02 Sep 2016 Finding HP:0001942,HP:0011968 02 Sep 2016 Finding HP:0001999,HP:0000252,HP:0000508,HP:0005148,HP:0000329,HP:0002194,HP:0010862,HP:0001363,HP:0000821,HP:0000750,HP:0000792 02 Sep 2016 Finding HP:0001999,HP:0000717 02 Sep 2016 Finding HP:0001999,HP:0000750 02 Sep 2016 Finding HP:0001999,HP:0001249,HP:0002197,HP:0002121,HP:0000348 02 Sep 2016 Finding HP:0001999,HP:0001263 02 Sep 2016 Finding HP:0001999,HP:0001511,HP:0000252 02 Sep 2016 Finding HP:0001999,HP:0001518,HP:0000057 02 Sep 2016 Finding HP:0001999,HP:0001561,HP:0000486,HP:0001622,HP:0000750,HP:0010862,HP:0002194 02 Sep 2016 Finding HP:0001999,HP:0001660,HP:0004425,HP:0011427 02 Sep 2016 Finding HP:0001999,HP:0011297,HP:0000157 02 Sep 2016 Finding HP:0001999,HP:0100851,HP:0001249 02 Sep 2016 Finding HP:0001999HP:0011451 05 Sep 2018 Finding HP:0002020,HP:0000750,HP:0002194,HP:0010862 02 Sep 2016 Finding HP:0002020,HP:0001252,HP:0001629,HP:0000708,HP:0008572,HP:0000750,HP:0010862,HP:0000193 02 Sep 2016 Finding HP:0002069,HP:0000750,HP:0010862,HP:0002197,HP:0002121,HP:0002194 02 Sep 2016 Finding HP:0002069,HP:0002194,HP:0001251,HP:0000750,HP:0001252,HP:0100851,HP:0002197,HP:0010862 02 Sep 2016 Finding HP:0002069,HP:0002197 02 Sep 2016 Finding HP:0002099,HP:0000252,HP:0002315,HP:0004322,HP:0000716,HP:0001260,HP:0002197,HP:0001328,HP:0002020,HP:0000739 02 Sep 2016 Finding HP:0002123,HP:0002197 02 Sep 2016 Finding HP:0002133,HP:0002373 02 Sep 2016 Finding HP:0002194,HP:0000717,HP:0100851,HP:0000252,HP:0001999,HP:0000750,HP:0010862,HP:0000414,HP:0001249 02 Sep 2016 Finding HP:0002194,HP:0001249,HP:0010862,HP:0001263,HP:0000750 02 Sep 2016 Finding HP:0002194,HP:0001252 02 Sep 2016 Finding HP:0002197,HP:0001249,HP:0001562 02 Sep 2016 Finding HP:0002197,HP:0001250 02 Sep 2016 Finding HP:0002197,HP:0002373 02 Sep 2016 Finding HP:0002197,HP:0010862,HP:0002194,HP:0001252 02 Sep 2016 Finding HP:0002315,HP:0001629,HP:0001765,HP:0002650,HP:0001156,HP:0001999,HP:0001761,HP:0002194,HP:0010862,HP:0001159 02 Sep 2016 Finding HP:0002360,HP:0001249 02 Sep 2016 Finding HP:0002370,HP:0011097 02 Sep 2016 Finding HP:0002373,HP:0000388,HP:0002133,HP:0002069 02 Sep 2016 Finding HP:0002373,HP:0002015,HP:0002020 02 Sep 2016 Finding HP:0002373,HP:0002197,HP:0010862,HP:0002069,HP:0001249,HP:0002194 02 Sep 2016 Finding HP:0002376,HP:0000750,HP:0000717 02 Sep 2016 Finding HP:0002376,HP:0002123,HP:0001249,HP:0001251,HP:0002197 02 Sep 2016 Finding HP:0002376,HP:0006970,HP:0100851,HP:0010862,HP:0002194,HP:0001622,HP:0000750 02 Sep 2016 Finding HP:0002376,HP:0011097 02 Sep 2016 Finding HP:0002817,HP:0001161,HP:0001829,HP:0001159,HP:0003974 02 Sep 2016 Finding HP:0003134,HP:0009830,HP:0001324 02 Sep 2016 Finding HP:0003234,HP:0001263,HP:0001388,HP:0001252 02 Sep 2016 Finding HP:0003418,HP:0011342,HP:0001999,HP:0001622,HP:0001659,HP:0001647 02 Sep 2016 Finding HP:0004322,HP:0000175,HP:0000252,HP:0001508 02 Sep 2016 Finding HP:0004322,HP:0000407,HP:0001643 02 Sep 2016 Finding HP:0004322,HP:0001263,HP:0001629 02 Sep 2016 Finding HP:0004322,HP:0001510,HP:0002194,HP:0000256,HP:0001999 02 Sep 2016 Finding HP:0004322,HP:0010862,HP:0000722,HP:0001328,HP:0001508 02 Sep 2016 Finding HP:0005824,HP:0002015,HP:0011968,HP:0001508,HP:0011471,HP:0002020,HP:0001622,HP:0100021,HP:0001263,HP:0001863,HP:0001252 02 Sep 2016 Finding HP:0006970,HP:0000256,HP:0002194,HP:0001508 02 Sep 2016 Finding HP:0007018,HP:0001328,HP:0002121,HP:0004322,HP:0001508 02 Sep 2016 Finding HP:0007349,HP:0001761,HP:0009830,HP:0000763 02 Sep 2016 Finding HP:0007359,HP:0001250 02 Sep 2016 Finding HP:0007359,HP:0001508 02 Sep 2016 Finding HP:0007359,HP:0011097 02 Sep 2016 Finding HP:0009049,HP:0001765 02 Sep 2016 Finding HP:0009088,HP:0000202,HP:0000407,HP:0000750 02 Sep 2016 Finding HP:0009123,HP:0000750,HP:0001263 02 Sep 2016 Finding HP:0009729,HP:0011675 02 Sep 2016 Finding HP:0009830,HP:0000762,HP:0001761 02 Sep 2016 Finding HP:0009830,HP:0000763,HP:0009020,HP:0001324,HP:0001337,HP:0001765,HP:0007349,HP:0001252 02 Sep 2016 Finding HP:0009916,HP:0005280,HP:0002194,HP:0000248 02 Sep 2016 Finding HP:0009921,HP:0000839 02 Sep 2016 Finding HP:0010049,HP:0001249,HP:0010012,HP:0010013 02 Sep 2016 Finding HP:0010312,HP:0000668,HP:0007572 02 Sep 2016 Finding HP:0010862,HP:0000750,HP:0003808,HP:0002194 02 Sep 2016 Finding HP:0010862,HP:0001257,HP:0002194,HP:0001332,HP:0001251,HP:0002123,HP:0100851,HP:0000750,HP:0001622,HP:0002197,HP:0001249,HP:0002069 02 Sep 2016 Finding HP:0010862,HP:0001992,HP:0002194,HP:0001332 02 Sep 2016 Finding HP:0010862,HP:0002194,HP:0001363,HP:0001647,HP:0001508,HP:0000750 02 Sep 2016 Finding HP:0010865,HP:0000739,HP:0007018,HP:0000717 02 Sep 2016 Finding HP:0010878,HP:0000238 02 Sep 2016 Finding HP:0010880,HP:0010943 02 Sep 2016 Finding HP:0010886,HP:0001643,HP:0000365,HP:0001629,HP:0001631,HP:0000589 02 Sep 2016 Finding HP:0010952,HP:0008872,HP:0001511,HP:0001622,HP:0000023 02 Sep 2016 Finding HP:0011097,HP:0001328,HP:0002194 02 Sep 2016 Finding HP:0011097,HP:0007359 02 Sep 2016 Finding HP:0011337,HP:0100021,HP:0000252 02 Sep 2016 Finding HP:0011344,HP:0000252,HP:0001252,HP:0001250 02 Sep 2016 Finding HP:0011443,HP:0001337 02 Sep 2016 Finding HP:0011842,HP:0001999 02 Sep 2016 Finding HP:0100851,HP:0000750 02 Sep 2016 Finding HPA 1 Recognition polymorphism, beta-globin-related MONDO MONDO:0007736 17 Apr 2020 Disease HPE spectrum 07 Jun 2018 Finding HPGD-Related Disorders 23 May 2019 Disease HPO id:0031067 empty follicle syndrome 07 Sep 2017 Finding HPRT ANN ARBOR 16 Feb 2016 Named protein variant HPRT ARLINGTON 16 Feb 2016 Named protein variant HPRT ASHVILLE 16 Feb 2016 Named protein variant HPRT BRISBANE 16 Feb 2016 Disease Hprt deficiency, neurologic variant NCBI curation 16 Feb 2016 Disease HPRT DETROIT 16 Feb 2016 Named protein variant HPRT EDINBURGH 16 Feb 2016 Named protein variant HPRT EVANSVILLE 16 Feb 2016 Named protein variant HPRT FLINT 16 Feb 2016 Named protein variant HPRT FUJIMI 16 Feb 2016 Named protein variant HPRT KINSTON 16 Feb 2016 Named protein variant HPRT LONDON 16 Feb 2016 Named protein variant HPRT MIDLAND 16 Feb 2016 Named protein variant HPRT MILWAUKEE 16 Feb 2016 Named protein variant HPRT MONTREAL 16 Feb 2016 Named protein variant HPRT MOOSE JAW 16 Feb 2016 Named protein variant HPRT MUNICH 16 Feb 2016 Named protein variant HPRT NEW BRITON 16 Feb 2016 Named protein variant HPRT NEW HAVEN 16 Feb 2016 Named protein variant HPRT PARIS 16 Feb 2016 Named protein variant HPRT SWAN 16 Feb 2016 Named protein variant HPRT TOKYO 16 Feb 2016 Named protein variant HPRT TOOWONG 16 Feb 2016 Named protein variant HPRT TORONTO 16 Feb 2016 Named protein variant HPRT URANGAN 16 Feb 2016 Named protein variant HPRT YALE 16 Feb 2016 Named protein variant HR-Related Disorders CN239293 02 Dec 2016 Disease HR44 ANTIGEN OMIM CN263312 605959 605959 27 Feb 2020 Disease HSCT 13 Feb 2020 Finding HSD10 disease Orphanet C3266731 ORPHA391417 300438 05 Jan 2020 Disease HSD10 disease, infantile type MONDO CN204974 MONDO:0018322 17 Apr 2020 Disease HSD10 disease, neonatal type MONDO CN204975 MONDO:0018323 17 Apr 2020 Disease HSD17B10-Related Disorder 13 Oct 2017 Disease HSD17B4-Related Disorders 23 May 2019 Disease HSPB1-Related Disorder 13 Oct 2017 Disease HSPB1-Related Disorders 23 May 2019 Disease HSPG2-Related Disorders 23 May 2019 Disease HTLV-1-associated myelopathy-tropical spastic paraparesis C0030481 159580 16 Feb 2016 Disease HTLV-2 infection MONDO C0020102 MONDO:0021183 04 Jun 2020 Infectious disease HTRA1-related autosomal dominant cerebral small vessel disease MONDO CN776823 MONDO:0018832 17 Apr 2020 Disease HTRA1-related cerebral small vessel disease CN776824 23 May 2019 Disease Hughes-Stovin syndrome MONDO C4303478 MONDO:0016425 17 Apr 2020 Disease Human African trypanosomiasis MONDO C0041228 MONDO:0005459 04 Jun 2020 Infectious disease Human anaplasmosis MONDO C1960454 MONDO:0044747 04 Jun 2020 Infectious disease Human coronavirus sensitivity NCBI curation C1852539 122460 17 Apr 2020 Disease Human granulocytic ehrlichiosis CN281714 16 Feb 2016 Infectious disease Human herpesvirus 8 infection MONDO C1512508 MONDO:0005187 04 Jun 2020 Infectious disease Human herpesvirus 8, susceptibility to NCBI curation C3553840 614836 16 Feb 2016 Disease Human herpesvirus 8-related tumor MONDO CN226610 MONDO:0015157 17 Apr 2020 Disease Human herpesvirus type 6, integrated NCBI curation C1858340 604474 16 Feb 2016 Disease Human HOXA1 syndromes MONDO C1832215 MONDO:0011099 601536 27 May 2020 Disease Human immunodeficiency virus dementia, susceptibility to NCBI curation 16 Feb 2016 Disease Human immunodeficiency virus infection NCBI curation C0019693 06 Jul 2018 Infectious disease Human immunodeficiency virus type 1, delayed disease progression with infection by NCBI curation C4016386 16 Feb 2016 Disease Human immunodeficiency virus type 1, increased perinatal transmission of NCBI curation C4017844 16 Feb 2016 Disease Human immunodeficiency virus type 1, rapid disease progression with infection by NCBI curation C4016387 16 Feb 2016 Disease Human immunodeficiency virus type 1, rapid progression to AIDS NCBI curation C4016733 16 Feb 2016 Disease Human immunodeficiency virus type 1, susceptibility to NCBI curation C1836230 609423 16 Feb 2016 Disease Human infection by orthopoxvirus MONDO CN264141 MONDO:0018583 04 Jun 2020 Infectious disease Human monocytic ehrlichiosis CN281733 16 Feb 2016 Infectious disease Human papilloma virus infection MONDO C0343641 MONDO:0005161 04 Jun 2020 Infectious disease Human papillomavirus-related penile squamous cell carcinoma MONDO C1334056 MONDO:0020656 17 Apr 2020 Disease Human papillomavirus-related squamous cell carcinoma MONDO C1334057 MONDO:0020657 17 Apr 2020 Disease Human spumaretrovirus infection 16 Feb 2016 Disease Human T-cell leukemia virus type 1 16 Feb 2016 Disease Human T-cell leukemia virus type 2 16 Feb 2016 Disease Human T-cell leukemia virus type 3 16 Feb 2016 Disease Human T-lymphotropic virus 1 infectious disease MONDO C0020097 MONDO:0005801 04 Jun 2020 Infectious disease Humeral agenesis/hypoplasia MONDO CN227133 MONDO:0017440 17 Apr 2020 Disease Humeral agenesis/hypoplasia, bilateral MONDO MONDO:0017483 17 Apr 2020 Disease Humeral agenesis/hypoplasia, unilateral MONDO MONDO:0017482 17 Apr 2020 Disease Humeral cortical irregularity Human Phenotype Ontology C4025543 HP:0003867 02 Apr 2017 Finding Humeral cortical thickening Human Phenotype Ontology C4025542 HP:0003868 02 Apr 2017 Finding Humeral cortical thinning Human Phenotype Ontology C4025541 HP:0003869 02 Apr 2017 Finding Humeral exostoses Human Phenotype Ontology C4025538 HP:0003872 02 Apr 2017 Finding Humeral lytic defects Human Phenotype Ontology C4025536 HP:0003875 02 Apr 2017 Finding Humeral metaphyseal irregularity Human Phenotype Ontology C4021706 HP:0003913 16 Feb 2016 Finding Humeral pseudarthrosis Human Phenotype Ontology C4025532 HP:0003879 02 Apr 2017 Finding Humeral sclerosis Human Phenotype Ontology C4021716 HP:0003881 16 Feb 2016 Finding Humero-radial synostosis, bilateral MONDO MONDO:0017551 17 Apr 2020 Disease Humero-radial synostosis, unilateral MONDO MONDO:0017550 17 Apr 2020 Disease Humero-radio-ulnar synostosis MONDO C4751207 MONDO:0017983 17 Apr 2020 Disease Humero-radio-ulnar synostosis, bilateral MONDO MONDO:0017549 17 Apr 2020 Disease Humero-radio-ulnar synostosis, unilateral MONDO MONDO:0017548 17 Apr 2020 Disease Humero-ulnar synostosis, bilateral MONDO CN203289 MONDO:0017553 17 Apr 2020 Disease Humero-ulnar synostosis, unilateral MONDO CN203288 MONDO:0017552 17 Apr 2020 Disease HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY OMIM C4747940 618022 618022 24 Jun 2018 Disease humeroperoneal weakness 18 Aug 2017 Finding Humeroradial synostosis Human Phenotype Ontology C2930865 HP:0003041 236400 16 Feb 2016 Disease Humeroradial synostosis Human Phenotype Ontology C2930865 HP:0003041 143050 16 Feb 2016 Disease Humeroradial synostosis with craniofacial anomalies NCBI curation C1968717 236410 16 Feb 2016 Disease Humeroradial/multiple synostosis syndrome NCBI curation 16 Feb 2016 Disease Humeroradioulnar synostosis 16 Feb 2016 Disease Humeroulnar synostosis Human Phenotype Ontology C0431799 HP:0003939 16 Feb 2016 Finding Humerus fracture MONDO MONDO:0005319 17 Apr 2020 Disease Humerus trochlea aplasia MONDO C1860773 MONDO:0008611 191000 17 Apr 2020 Disease Humerus varus Human Phenotype Ontology C4025537 HP:0003874 16 Feb 2016 Finding Humoral hypercalcemia of malignancy NCBI curation C0149911 16 Feb 2016 Disease Humoral immunodeficiency Human Phenotype Ontology C1399819 HP:0005363 04 Apr 2018 Finding Hump-shaped mound of bone in central and posterior portions of vertebral endplate Human Phenotype Ontology C1839252 HP:0004594 16 Feb 2016 Finding Hunter Carpenter Macdonald syndrome 16 Feb 2016 Disease Hunter Macpherson syndrome 16 Feb 2016 Disease Hunter Mcdonald syndrome 16 Feb 2016 Disease Hunter-MacDonald syndrome NCBI curation C2677745 611962 16 Feb 2016 Disease Hunter-McAlpine craniosynostosis MONDO C1832408 MONDO:0011065 601379 22 Apr 2020 Disease Huntington disease NCBI curation C0020179 143100 03 Apr 2020 Disease Huntington disease and related disorders MONDO MONDO:0000167 17 Apr 2020 Disease Huntington disease-like 1 NCBI curation C1864112 603218 16 Feb 2016 Disease Huntington disease-like 2 NCBI curation C1847987 606438 16 Feb 2016 Disease Huntington disease-like 3 NCBI curation C1858114 604802 16 Feb 2016 Disease Huntington disease-like syndrome NCBI curation C3711380 18 Jan 2019 Disease Huntington disease-like syndrome due to C9ORF72 expansions MONDO C5190586 MONDO:0018425 17 Apr 2020 Disease Hurler syndrome NCBI curation C0086795 607014 22 Dec 2019 Disease Hurst Hallam Hockey syndrome 16 Feb 2016 Disease Hurthle cell carcinoma of thyroid C0749424 607464 16 Feb 2016 Disease Hurthle cell thyroid adenoma Human Phenotype Ontology C1336750 HP:0006781 16 Feb 2016 Finding Hutchinson incisors 16 Feb 2016 Disease Hutchinson-Gilford progeria syndrome, atypical NCBI curation C4016241 16 Feb 2016 Disease Hutchinson-Gilford progeria syndrome, childhood-onset NCBI curation C2750285 02 May 2016 Disease Hutchinson-Gilford syndrome C0033300 176670 16 Feb 2016 Disease Hutterite cerebroosteonephrodysplasia syndrome C1856054 236450 16 Feb 2016 Disease Hutteroth Spranger syndrome 16 Feb 2016 Disease HUWE1-Related Disorder 11 Oct 2018 Disease HUWE1-related neurodevelopmental disorder 01 May 2020 Finding Hyaline body myopathy NCBI curation CN253826 12 Sep 2018 Disease Hyaline casts Human Phenotype Ontology C0333121 HP:0031200 04 Apr 2018 Finding Hyaline fibromatosis syndrome NCBI curation C2745948 228600 16 Feb 2016 Disease Hyalinosis systemic short stature 16 Feb 2016 Disease Hyalinosis, Segmental Glomerular 29 Jun 2020 Disease Hyalohyphomycosis MONDO C0343952 MONDO:0045037 04 Jun 2020 Infectious disease Hyaloid vascular remnant and retrolental mass Human Phenotype Ontology C4280790 HP:0030744 02 Apr 2017 Finding Hyaluronan metabolism, defect in NCBI curation C1858083 604855 16 Feb 2016 Disease Hydatidiform mole NCBI curation C0020217 31 Jan 2020 Disease Hydatidiform mole, recurrent OMIM phenotypic series CN263221 PS231090 16 Feb 2016 Disease Hydatidiform mole, recurrent, 1 NCBI curation C3463897 231090 01 Feb 2020 Disease Hydatidiform mole, recurrent, 2 NCBI curation C3280352 614293 16 Feb 2016 Disease HYDATIDIFORM MOLE, RECURRENT, 3 OMIM C5193093 618431 618431 16 May 2019 Disease HYDATIDIFORM MOLE, RECURRENT, 4 OMIM C5193094 618432 618432 17 May 2019 Disease Hydatidosis 16 Feb 2016 Disease Hydralazine response CN077991 16 Feb 2016 Pharmacological response Hydranencephaly Human Phenotype Ontology C0020225 HP:0002324 16 Feb 2016 Disease Hydranencephaly and abnormal genitalia NCBI curation 16 Feb 2016 Disease Hydranencephaly with abnormal genitalia NCBI curation C1846172 16 Feb 2016 Disease Hydranencephaly with renal aplasia-dysplasia NCBI curation C1856053 236500 16 Feb 2016 Disease Hydrarthrosis MONDO MONDO:0003366 17 Apr 2020 Disease Hydroa vacciniforme C0020241 16 Feb 2016 Disease Hydroa vacciniforme, familial C1863533 603794 16 Feb 2016 Disease Hydroa vacciniforme-like lymphoma MONDO C1708397 MONDO:0018224 17 Apr 2020 Disease Hydrocele testis Human Phenotype Ontology C1720771 HP:0000034 16 Feb 2016 Finding Hydrocephalus Human Phenotype Ontology C0020255 HP:0000238 16 Feb 2016 Disease Hydrocephalus autosomal recessive 16 Feb 2016 Disease Hydrocephalus costovertebral dysplasia Sprengel anomaly 16 Feb 2016 Disease Hydrocephalus craniosynostosis bifid nose 16 Feb 2016 Disease Hydrocephalus due to aqueductal stenosis CN221283 16 Feb 2016 Disease Hydrocephalus due to congenital stenosis of aqueduct of Sylvius NCBI curation CN074258 236635 16 Feb 2016 Disease Hydrocephalus endocardial fibroelastosis cataract 16 Feb 2016 Disease Hydrocephalus growth retardation skeletal anomalies 16 Feb 2016 Disease Hydrocephalus obesity hypogonadism 16 Feb 2016 Disease Hydrocephalus skeletal anomalies 16 Feb 2016 Disease Hydrocephalus with cerebellar agenesis NCBI curation C1844005 307010 16 Feb 2016 Disease Hydrocephalus with congenital idiopathic intestinal pseudoobstruction CN259036 13 Jun 2019 Disease Hydrocephalus with Hirschsprung disease CN259035 13 Jun 2019 Disease Hydrocephalus, autosomal dominant NCBI curation C1838347 123155 16 Feb 2016 Disease HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1 OMIM C5231454 618667 618667 24 Nov 2019 Disease Hydrocephalus, congenital, 2, with or without brain or eye anomalies NCBI curation C3554691 615219 27 Sep 2018 Disease HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES OMIM C4747885 617967 617967 12 Jul 2018 Disease Hydrocephalus, sprengel anomaly, and costovertebral dysplasia NCBI curation C3551260 600991 24 Aug 2016 Disease Hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction NCBI curation C1844006 16 Feb 2016 Disease Hydrocephalus, X-linked, with hirschsprung disease NCBI curation C4017784 07 May 2017 Disease Hydrocephalus-blue sclerae-nephropathy syndrome MONDO C2931014 MONDO:0016350 17 Apr 2020 Disease Hydrocephalus-obesity-hypogonadism syndrome MONDO CN201182 MONDO:0016346 17 Apr 2020 Disease Hydrocephaly corpus callosum agenesis diaphragmatic hernia 16 Feb 2016 Disease Hydrocephaly low insertion umbilicus 16 Feb 2016 Disease Hydrocephaly tall stature joint laxity 16 Feb 2016 Disease Hydrocephaly-tall stature-joint laxity syndrome MONDO C1856051 MONDO:0009363 236660 17 Apr 2020 Disease hydrochlorothiazide response - Efficacy PharmGKB CN236559 1183631507 18 May 2016 Pharmacological response Hydrocodone response NCBI curation CN221246 16 Feb 2016 Pharmacological response Hydrocolpos Human Phenotype Ontology C1399870 HP:0030711 02 Apr 2017 Finding Hydrolethalus syndrome OMIM phenotypic series C2931104 PS236680 16 Feb 2016 Disease Hydrolethalus syndrome 1 NCBI curation C1856016 236680 16 Feb 2016 Disease Hydrolethalus syndrome 2 NCBI curation C3279899 614120 16 Feb 2016 Disease Hydrometrocolpos Human Phenotype Ontology C0269209 HP:0030010 16 Feb 2016 Finding Hydromyelia Human Phenotype Ontology C0152444 HP:0100565 16 Feb 2016 Finding Hydronephrosis Human Phenotype Ontology C0020295 HP:0000126 16 Feb 2016 Finding Hydronephrosis peculiar facial expression 16 Feb 2016 Disease Hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation NCBI curation C1858043 604916 16 Feb 2016 Disease Hydrophthalmos MONDO MONDO:0006788 17 Apr 2020 Disease Hydropic placenta Human Phenotype Ontology C0270254 HP:0011414 16 Feb 2016 Finding Hydrops as a newborn CN235260 19 Feb 2016 Finding Hydrops ectrodactyly syndactyly 16 Feb 2016 Disease Hydrops fetalis Human Phenotype Ontology C0020305 HP:0001789 16 Feb 2016 Disease HYDROPS FETALIS, ALPHA-THALASSEMIA-RELATED NCBI curation C3278364 16 Feb 2016 Disease Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to NCBI curation C4310629 617300 20 Jun 2017 Disease Hydrops fetalis, nonimmune, with gracile bones and dysmorphic features NCBI curation C5193233 613124 16 Feb 2016 Disease Hydrops of gallbladder MONDO C0152445 MONDO:0004859 17 Apr 2020 Disease Hydrops, lactic acidosis, and sideroblastic anemia NCBI curation C4310761 617021 24 Aug 2016 Disease Hydroureter Human Phenotype Ontology C0521620 HP:0000072 16 Feb 2016 Finding Hydroxyacyl glutathione hydrolase deficiency NCBI curation C3279657 614033 16 Feb 2016 Disease Hydroxycarboxylic aciduria 16 Feb 2016 Disease Hydroxykynureninuria NCBI curation C0268474 236800 16 Feb 2016 Disease Hydroxylysinuria NCBI curation C1855986 236900 16 Feb 2016 Disease Hydroxyprolinuria Human Phenotype Ontology C0948585 HP:0003080 16 Feb 2016 Finding Hygroma cervical 16 Feb 2016 Disease Hymenolepiasis C0020413 16 Feb 2016 Infectious disease Hyoplasia of the Leydig cells Human Phenotype Ontology C4023702 HP:0010790 16 Feb 2016 Finding Hyper IgM Syndrome Type 4 CN181671 16 Feb 2016 Disease Hyper- and hypo-pigmented macules on left thorax 23 Jan 2020 Finding Hyper-beta-alaninemia C0268630 237400 16 Feb 2016 Disease Hyper-extensible fingers CN235302 20 Feb 2016 Finding Hyper-IgE recurrent infection syndrome OMIM phenotypic series CN259037 PS147060 13 Jun 2019 Disease Hyper-IgE recurrent infection syndrome 1, autosomal dominant NCBI curation C4721531 147060 10 Nov 2019 Disease HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE OMIM C4748969 618282 618282 18 Jan 2019 Disease HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE OMIM C5193141 618523 618523 02 Aug 2019 Disease Hyper-IgE syndrome Orphanet CN236381 ORPHA331223 16 Feb 2016 Disease Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia NCBI curation C1846008 16 Feb 2016 Disease Hyper-IgM syndrome type 2 MONDO C1720956 MONDO:0011528 605258 22 Apr 2020 Disease Hyper-IgM syndrome type 3 MONDO C1720957 MONDO:0011735 606843 22 Apr 2020 Disease Hyper-IgM syndrome type 5 MONDO C1720958 MONDO:0011971 608106 22 Apr 2020 Disease Hyper-IgM syndrome with susceptibility to opportunistic infections MONDO C5190885 MONDO:0015975 17 Apr 2020 Disease Hyper-IgM syndrome without susceptibility to opportunistic infections MONDO C5190886 MONDO:0015976 17 Apr 2020 Disease Hyper-reninism 16 Feb 2016 Disease Hyperactive airways CN228273 16 Feb 2016 Finding Hyperactive bowel sounds Human Phenotype Ontology C0232694 HP:0030143 16 Feb 2016 Finding Hyperactive deep tendon reflexes Human Phenotype Ontology C1846176 HP:0006801 16 Feb 2016 Finding Hyperactive patellar reflex Human Phenotype Ontology C0240116 HP:0007083 16 Feb 2016 Finding Hyperactive renin-angiotensin system Human Phenotype Ontology C1846345 HP:0000841 16 Feb 2016 Finding Hyperactivity Human Phenotype Ontology C0424295 HP:0000752 16 Feb 2016 Finding Hyperacusis Human Phenotype Ontology C0034880 HP:0010780 16 Feb 2016 Disease Hyperadrenalism 16 Feb 2016 Disease Hyperalaninemia Human Phenotype Ontology C1849489 HP:0003348 16 Feb 2016 Finding Hyperalbuminemia Human Phenotype Ontology C1142113 HP:0012117 16 Feb 2016 Finding Hyperaldosteronism Human Phenotype Ontology C0020428 HP:0000859 16 Feb 2016 Finding Hyperaldosteronism, familial, type I NCBI curation C1260386 103900 24 Aug 2016 Disease Hyperaldosteronism, familial, type II NCBI curation C1854107 605635 24 Aug 2016 Disease Hyperaldosteronism, familial, type IV NCBI curation C4310756 617027 24 Aug 2016 Disease Hyperalgesia Human Phenotype Ontology C0020429 HP:0031005 04 Apr 2018 Finding Hyperalphalipoproteinemia NCBI curation C4551591 16 Feb 2016 Disease Hyperalphalipoproteinemia 1 NCBI curation C3149462 143470 10 Apr 2018 Disease Hyperalphalipoproteinemia 2 NCBI curation C3151467 614028 16 Feb 2016 Disease Hyperammonemia Human Phenotype Ontology C0220994 HP:0001987 19 Mar 2018 Disease Hyperammonemia (HP:0001987) and elevated glutarylcarnitine was observed in previous child who died after 3 days of birth and one miscarriage was observed. 26 Jul 2018 Finding Hyperammonemia, type III C0268543 237310 16 Feb 2016 Disease Hyperamylasemia MONDO C0221773 MONDO:0006789 17 Apr 2020 Disease Hyperandrogenism C0206081 16 Feb 2016 Disease Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency NCBI curation C1859995 16 Feb 2016 Disease Hyperapobetalipoproteinemia Human Phenotype Ontology C0020474 HP:0008158 144250 04 Apr 2018 Disease Hyperapobetalipoproteinemia, susceptibility to NCBI curation C1868414 16 Feb 2016 Disease Hyperautofluorescent macular lesion Human Phenotype Ontology C4073101 HP:0030631 02 Apr 2017 Finding Hyperautofluorescent retinal lesion Human Phenotype Ontology C4476623 HP:0025158 02 Apr 2017 Finding Hyperbetaalaninemia Human Phenotype Ontology C4021080 HP:0012556 16 Feb 2016 Finding Hyperbilirubinemia Human Phenotype Ontology C0311468 HP:0002904 16 Feb 2016 Finding Hyperbilirubinemia OMIM phenotypic series C0311468 PS237450 16 Feb 2016 Finding Hyperbilirubinemia - conjugated - type III C0400964 237550 16 Feb 2016 Disease Hyperbilirubinemia type 1 16 Feb 2016 Disease Hyperbilirubinemia type 2 16 Feb 2016 Disease Hyperbiliverdinemia NCBI curation C3279964 614156 16 Feb 2016 Disease Hypercalcemia Human Phenotype Ontology C0020437 HP:0003072 16 Feb 2016 Finding Hypercalcemia, infantile, 1 NCBI curation C4310232 143880 21 Mar 2020 Disease Hypercalcemia, infantile, 2 NCBI curation C4310473 616963 22 Jun 2017 Disease Hypercalcemic sarcoidosis MONDO C1334067 MONDO:0001709 17 Apr 2020 Disease Hypercalcemic type ovarian small cell carcinoma MONDO C1518736 MONDO:0004319 17 Apr 2020 Disease Hypercalcinuria macular coloboma 16 Feb 2016 Disease Hypercalciuria Human Phenotype Ontology C0020438 HP:0002150 16 Feb 2016 Finding Hypercalciuria, absorptive, 1 NCBI curation C1846573 607258 16 Feb 2016 Disease Hypercalciuria, absorptive, susceptibility to NCBI curation 16 Feb 2016 Disease Hypercalciuria, childhood, self-limiting NCBI curation C3151482 02 Jul 2018 Disease Hypercalciuric hypercalcemia NCBI curation C1832611 16 Feb 2016 Disease Hypercapnia Human Phenotype Ontology C0020440 HP:0012416 16 Feb 2016 Finding Hypercarotenemia and vitamin a deficiency, autosomal dominant NCBI curation C2676023 115300 16 Feb 2016 Disease Hypercarotenemia and vitamin a deficiency, autosomal recessive NCBI curation C2678266 277350 16 Feb 2016 Disease Hypercellular bone marrow C1334068 15 Jun 2018 Finding Hypercementosis C0020441 16 Feb 2016 Disease Hyperchloremia Human Phenotype Ontology C0085679 HP:0011423 16 Feb 2016 Finding Hyperchloremic acidosis Human Phenotype Ontology C0085569 HP:0001995 16 Feb 2016 Finding Hyperchloremic metabolic acidosis Human Phenotype Ontology C1969073 HP:0004918 16 Feb 2016 Finding Hyperchlorhidrosis, isolated NCBI curation C1840437 143860 16 Feb 2016 Disease Hyperchloriduria Human Phenotype Ontology C1846352 HP:0002914 02 Apr 2017 Finding Hypercholanemia CN239449 02 Dec 2016 Disease Hypercholanemia, familial NCBI curation C1843139 607748 16 Feb 2016 Disease Hypercholesterolaemia C0020443 16 Feb 2016 Disease Hypercholesterolemia PharmGKB C1522133 16 Feb 2016 Finding Hypercholesterolemia Human Phenotype Ontology C1522133 HP:0003124 16 Feb 2016 Finding Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency MONDO C4751204 MONDO:0016203 17 Apr 2020 Disease Hypercholesterolemia suppressor NCBI curation C1840430 144020 16 Feb 2016 Disease Hypercholesterolemia, susceptibility to NCBI curation C4016675 28 Feb 2020 Disease Hypercholesterolemia;Myocardial Infarction PharmGKB 17 Feb 2017 Disease Hyperchromic macrocytic anemia Human Phenotype Ontology C3854594 HP:0004857 16 Feb 2016 Finding Hypercitraturia Human Phenotype Ontology C4021090 HP:0012406 16 Feb 2016 Finding Hypercoagulability Human Phenotype Ontology C0398623 HP:0100724 16 Feb 2016 Disease Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency MONDO C5201145 MONDO:0012465 610293 17 Apr 2020 Disease Hypercontractile muscle stiffness syndrome MONDO CN776841 MONDO:0018779 17 Apr 2020 Disease Hyperconvex fingernails Human Phenotype Ontology C1844825 HP:0001812 16 Feb 2016 Finding Hyperconvex nail Human Phenotype Ontology C0423807 HP:0001795 16 Feb 2016 Finding Hyperconvex thumb nails Human Phenotype Ontology C1855290 HP:0008407 16 Feb 2016 Finding Hyperconvex toenail Human Phenotype Ontology C4022661 HP:0030055 16 Feb 2016 Finding Hyperconvex vertebral body endplates Human Phenotype Ontology C4025307 HP:0004603 16 Feb 2016 Finding Hypercortisolism C0001622 16 Feb 2016 Finding Hyperechogenic kidneys Human Phenotype Ontology C3275899 HP:0004719 16 Feb 2016 Finding Hyperechogenic pancreas Human Phenotype Ontology C1857945 HP:0006276 16 Feb 2016 Finding Hyperekplexia OMIM phenotypic series C0234166 PS149400 16 Feb 2016 Disease Hyperekplexia GeneReviews C0234166 NBK1260 16 Feb 2016 Disease Hyperekplexia 1 NCBI curation C4551954 149400 10 Nov 2019 Disease Hyperekplexia 2 NCBI curation C3553291 614619 16 Feb 2016 Disease Hyperekplexia 3 NCBI curation C3553288 614618 16 Feb 2016 Disease HYPEREKPLEXIA 4 OMIM C4693933 618011 618011 10 Jun 2018 Disease Hyperemesis gravidarum Human Phenotype Ontology C0020450 HP:0012188 16 Feb 2016 Finding Hyperemesis gravidarum (disease) MONDO MONDO:0006791 17 Apr 2020 Disease Hypereosinophilia of undetermined significance MONDO MONDO:0100059 17 Apr 2020 Disease Hypereosinophilic syndrome, idiopathic, resistant to imatinib NCBI curation C4016331 16 Feb 2016 Disease Hypereosinophilic syndromes 16 Feb 2016 Disease Hyperesthesia Human Phenotype Ontology C0020453 HP:0100963 16 Feb 2016 Finding Hyperestrogenism MONDO C0154209 MONDO:0001946 17 Apr 2020 Disease Hyperextensibility at elbow Human Phenotype Ontology C4023808 HP:0010485 16 Feb 2016 Finding Hyperextensibility at wrists Human Phenotype Ontology C1850853 HP:0005072 16 Feb 2016 Finding Hyperextensibility of the finger joints Human Phenotype Ontology C1844577 HP:0001187 16 Feb 2016 Finding Hyperextensibility of the knee Human Phenotype Ontology C4023802 HP:0010500 16 Feb 2016 Finding Hyperextensible hand joints Human Phenotype Ontology C1856877 HP:0005639 16 Feb 2016 Finding Hyperextensible skin Human Phenotype Ontology C0241074 HP:0000974 16 Feb 2016 Finding Hyperextensible skin of chest Human Phenotype Ontology C4021836 HP:0011930 16 Feb 2016 Finding Hyperextensible skin of face Human Phenotype Ontology C4024883 HP:0007425 16 Feb 2016 Finding Hyperextensible thumb Human Phenotype Ontology C4025148 HP:0005722 16 Feb 2016 Finding hyperextensiblity of fingers 05 Sep 2018 Finding Hyperfibrinogenemia Human Phenotype Ontology C0919890 HP:0011899 16 Feb 2016 Finding Hyperfibrinolysis Human Phenotype Ontology C3805089 HP:0040236 02 Apr 2017 Finding Hyperfibrinolysis, familial, due to increased release of PLAT CN260025 18 Jun 2019 Disease Hyperfibrinolysis, familial, due to increased release of tissue plasminogen activator NCBI curation 16 Feb 2016 Disease hyperflexible ankle joints CN232683 16 Feb 2016 Finding Hypergalactosemia Human Phenotype Ontology C4023071 HP:0012024 16 Feb 2016 Finding Hyperglobulinemic purpura MONDO C0034151 MONDO:0006792 17 Apr 2020 Disease Hyperglutaminemia Human Phenotype Ontology C1839533 HP:0003217 16 Feb 2016 Finding Hyperglutaminuria Human Phenotype Ontology C4476741 HP:0025376 04 Apr 2018 Finding Hyperglycemia Human Phenotype Ontology C0020456 HP:0003074 16 Feb 2016 Finding Hyperglycerolemia Human Phenotype Ontology C4477039 HP:0040302 04 Apr 2018 Finding Hyperglycinemia Human Phenotype Ontology C0268559 HP:0002154 16 Feb 2016 Finding Hyperglycinemia, isolated nonketotic 16 Feb 2016 Disease Hyperglycinemia, isolated nonketotic type 1 16 Feb 2016 Disease Hyperglycinemia, isolated nonketotic type 2 16 Feb 2016 Disease Hyperglycinemia, transient neonatal NCBI curation 16 Feb 2016 Disease Hyperglycinuria Human Phenotype Ontology C0543541 HP:0003108 138500 16 Feb 2016 Disease Hypergonadotropic hypogonadism Human Phenotype Ontology C0948896 HP:0000815 16 Feb 2016 Finding Hypergonadotropic hypogonadism and partial alopecia NCBI curation C2673480 241090 16 Feb 2016 Disease Hypergonadotropic hypogonadism, male, due to lhcgr defect NCBI curation 16 Feb 2016 Disease Hypergonadotropic hypogonadism-cataract syndrome MONDO C1855859 MONDO:0009417 240950 17 Apr 2020 Disease Hypergonadotropic ovarian failure, familial or sporadic 16 Feb 2016 Disease Hypergondotropic hypogonadism CN236416 10 May 2016 Finding Hypergranulosis Human Phenotype Ontology C3279547 HP:0025114 02 Apr 2017 Finding Hyperhidrosis Human Phenotype Ontology C0020458 HP:0000975 16 Feb 2016 Finding Hyperhidrosis, premature cavities and premolar aplasia C0457014 112300 16 Feb 2016 Disease Hyperhomocysteinemia NCBI curation C3495426 603174 16 Feb 2016 Disease HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 16 Feb 2016 Disease Hyperhomocystinemia Human Phenotype Ontology C3806347 HP:0002160 16 Feb 2016 Finding Hyperhydroxyprolinemia C0268531 237000 16 Feb 2016 Disease Hyperimmunoglobulin D with periodic fever C0398691 260920 16 Feb 2016 Disease Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive NCBI curation C4722305 243700 16 Feb 2016 Disease Hyperimmunoglobulin g1(a1) syndrome NCBI curation C1840429 144120 24 Aug 2016 Disease Hyperimmunoglobulin M syndrome NCBI curation C0272236 16 Feb 2016 Disease Hyperimmunoglobulin syndrome MONDO C1334069 MONDO:0002468 17 Apr 2020 Disease hyperinsulinaemic CN233056 16 Feb 2016 Finding Hyperinsulinemia Human Phenotype Ontology C0020459 HP:0000842 16 Feb 2016 Finding Hyperinsulinemic hypoglycemia Human Phenotype Ontology C1864903 HP:0000825 16 Feb 2016 Disease Hyperinsulinemic hypoglycemia (disease) MONDO MONDO:0005803 17 Apr 2020 Disease Hyperinsulinemic hypoglycemia familial 5 NCBI curation C1864952 609968 16 Feb 2016 Disease Hyperinsulinemic hypoglycemia, familial, 1 NCBI curation C2931832 256450 24 Dec 2019 Disease Hyperinsulinemic hypoglycemia, familial, 4 NCBI curation C1864948 609975 16 Feb 2016 Disease Hyperinsulinism due to glucokinase deficiency MONDO C1865290 MONDO:0011236 602485 17 Apr 2020 Disease Hyperinsulinism due to HNF1A deficiency MONDO C4303475 MONDO:0017935 17 Apr 2020 Disease Hyperinsulinism due to HNF4A deficiency Orphanet C4274078 ORPHA263455 25 Aug 2017 Disease Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency MONDO C4303473 MONDO:0009278 17 Apr 2020 Disease Hyperinsulinism due to UCP2 deficiency MONDO C4303082 MONDO:0017183 17 Apr 2020 Disease Hyperinsulinism, diffuse 16 Feb 2016 Disease Hyperinsulinism, Dominant CN239341 02 Dec 2016 Disease Hyperinsulinism, Dominant/Recessive CN239464 02 Dec 2016 Disease Hyperinsulinism, focal 16 Feb 2016 Disease Hyperinsulinism, UCP2 related NCBI curation CN236390 11 Aug 2016 Disease Hyperinsulinism-hyperammonemia syndrome C1847555 606762 16 Feb 2016 Disease Hyperintense signal in basal ganglia 23 Jan 2020 Finding Hyperintensity of cerebral white matter on MRI Human Phenotype Ontology CN241608 HP:0030890 02 Apr 2017 Finding Hyperintensity of MRI T2 signal of the spinal cord Human Phenotype Ontology C4280684 HP:0040272 02 Apr 2017 Finding Hyperisoleucinemia Human Phenotype Ontology C4023657 HP:0010913 16 Feb 2016 Finding Hyperkalemia Human Phenotype Ontology C0020461 HP:0002153 16 Feb 2016 Finding Hyperkalemic metabolic acidosis Human Phenotype Ontology C1865880 HP:0005976 16 Feb 2016 Finding Hyperkalemic Periodic Paralysis CN239391 02 Dec 2016 Disease Hyperkalemic Periodic Paralysis Type 1 GeneReviews CN074266 NBK1496 170500 16 Feb 2016 Disease hyperkeneses with developmental delay 05 Sep 2019 Finding Hyperkeratosis Human Phenotype Ontology C0870082 HP:0000962 16 Feb 2016 Finding Hyperkeratosis (soles) CN235286 20 Feb 2016 Finding Hyperkeratosis follicularis in cutem penetrans C0263382 149500 16 Feb 2016 Disease Hyperkeratosis lenticularis perstans Human Phenotype Ontology C0263420 HP:0007570 144150 16 Feb 2016 Disease Hyperkeratosis over edematous areas Human Phenotype Ontology C1835253 HP:0007448 16 Feb 2016 Finding Hyperkeratosis palmoplantar localized acanthokeratolytic 16 Feb 2016 Disease Hyperkeratosis palmoplantar localized epidermolytic 16 Feb 2016 Disease Hyperkeratosis palmoplantar with palmar crease hyperkeratosis 16 Feb 2016 Disease Hyperkeratosis pilaris Human Phenotype Ontology C4073145 HP:0040180 16 Feb 2016 Finding Hyperkeratosis with erythema Human Phenotype Ontology C4024891 HP:0007390 16 Feb 2016 Finding Hyperkeratosis-hyperpigmentation syndrome NCBI curation C1840428 144190 16 Feb 2016 Disease Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations NCBI curation C1861786 16 Feb 2016 Disease Hyperkeratotic papule Human Phenotype Ontology C2047516 HP:0045059 02 Apr 2017 Finding Hyperkinesis Human Phenotype Ontology C3887506 HP:0002487 16 Feb 2016 Finding hyperkinesis of the facial muscles 15 Nov 2019 Finding hyperkinetic 05 Sep 2019 Finding Hyperkinetic seizures Human Phenotype Ontology C4023497 HP:0011174 16 Feb 2016 Finding Hyperlactaemia CN239816 30 Dec 2016 Disease Hyperlactatemia C0795692 16 Feb 2016 Finding Hyperlaxity 11 Aug 2017 Disease Hyperleucine-isoleucinemia C0268574 238340 16 Feb 2016 Disease Hyperleucinemia Human Phenotype Ontology C0268576 HP:0010911 16 Feb 2016 Finding Hyperlexia NCBI curation C1855928 238350 16 Feb 2016 Disease Hyperlipemia with familial hypercholesterolemic xanthomatosis NCBI curation 16 Feb 2016 Disease Hyperlipidemia Human Phenotype Ontology C0428465 HP:0003077 16 Feb 2016 Finding Hyperlipidemia (disease) MONDO C0020473 MONDO:0021187 17 Apr 2020 Disease hyperlipidemia associated with hepatomegaly 18 Feb 2020 Finding Hyperlipidemia, combined, 1 NCBI curation C1865289 602491 16 Feb 2016 Disease Hyperlipidemia, combined, 2 NCBI curation C1858308 604499 16 Feb 2016 Disease Hyperlipidemia, familial combined, susceptibility to NCBI curation C4016424 28 Feb 2020 Disease Hyperlipoproteinemia Human Phenotype Ontology C0020476 HP:0010980 16 Feb 2016 Disease Hyperlipoproteinemia type IV MONDO CN280508 MONDO:0007761 144600 22 Apr 2020 Disease Hyperlipoproteinemia, type I NCBI curation C0023817 238600 16 Feb 2016 Disease Hyperlipoproteinemia, type ID NCBI curation C4014767 615947 19 Apr 2016 Disease Hyperlipoproteinemia, type II, and deafness NCBI curation C1840425 144300 26 May 2016 Disease HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5 07 Oct 2017 Disease HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE7 07 Oct 2017 Disease HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE3(WASHINGTON) 24 Nov 2019 Disease Hyperlordosis Human Phenotype Ontology C0024003 HP:0003307 16 Feb 2016 Finding Hyperlucent lung MONDO C0524799 MONDO:0000925 17 Apr 2020 Disease Hyperlysinemia Human Phenotype Ontology C0543533 HP:0002161 238700 16 Feb 2016 Disease Hyperlysinemia due to defect in lysine transport into mitochondria NCBI curation C1855927 238710 16 Feb 2016 Disease Hyperlysinuria Human Phenotype Ontology C4021733 HP:0003297 16 Feb 2016 Finding Hyperlysinuria with hyperammonemia NCBI curation C0268555 238750 16 Feb 2016 Disease Hypermagnesemia Human Phenotype Ontology C1522135 HP:0002918 16 Feb 2016 Finding Hypermagnesiuria Human Phenotype Ontology C2673443 HP:0012608 16 Feb 2016 Finding Hypermanganesemia with dystonia OMIM phenotypic series C4708509 PS613280 18 Jun 2017 Disease Hypermanganesemia with dystonia 1 NCBI curation C2750442 613280 18 Jun 2017 Disease Hypermanganesemia with dystonia 2 NCBI curation C4310765 617013 24 Aug 2016 Disease Hypermature cataract MONDO MONDO:0045049 17 Apr 2020 Disease Hypermelanotic macule Human Phenotype Ontology C1842774 HP:0001034 16 Feb 2016 Finding Hypermetabolism due to defect in mitochondria NCBI curation C1855926 238800 16 Feb 2016 Disease Hypermethioninemia Human Phenotype Ontology C4048705 HP:0003235 16 Feb 2016 Finding Hypermethioninemia due to adenosine kinase deficiency NCBI curation C4706555 614300 16 Feb 2016 Disease Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency NCBI curation C3151058 613752 16 Feb 2016 Disease Hypermetric saccades Human Phenotype Ontology C0423083 HP:0007338 16 Feb 2016 Finding Hypermetropia Human Phenotype Ontology C0020490 HP:0000540 16 Feb 2016 Finding hypermobile joints 22 Aug 2019 Finding hypermobility 05 Sep 2019 Finding Hypermobility of coccyx MONDO C0158295 MONDO:0001546 17 Apr 2020 Disease Hypermobility of distal interphalangeal joints Human Phenotype Ontology C1851811 HP:0006201 16 Feb 2016 Finding Hypermobility of fingers 23 Jan 2020 Finding Hypermobility of interphalangeal joints Human Phenotype Ontology C4025172 HP:0005620 16 Feb 2016 Finding Hypermobility of toe joints Human Phenotype Ontology C4023798 HP:0010510 16 Feb 2016 Finding Hypermobility syndrome C0152093 18 Jan 2019 Finding Hypermyelinated retinal nerve fibers Human Phenotype Ontology C1849151 HP:0007922 16 Feb 2016 Finding hypermyotonia 25 Jan 2019 Finding Hypernatremia Human Phenotype Ontology C0020488 HP:0003228 16 Feb 2016 Finding Hypernatremic dehydration Human Phenotype Ontology C1850544 HP:0004906 16 Feb 2016 Finding Hypernatriuria Human Phenotype Ontology C3671887 HP:0012605 16 Feb 2016 Finding Hyperopia, high NCBI curation C1855925 238950 16 Feb 2016 Disease Hyperopic astigmatism Human Phenotype Ontology C1847524 HP:0000484 16 Feb 2016 Finding Hyperorality Human Phenotype Ontology C1838320 HP:0000710 16 Feb 2016 Finding Hyperornithinemia NCBI curation 16 Feb 2016 Disease Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome NCBI curation C0268540 238970 16 Feb 2016 Disease Hyperostosis Human Phenotype Ontology C0020492 HP:0100774 16 Feb 2016 Finding Hyperostosis cranialis interna Human Phenotype Ontology C1840404 HP:0005890 144755 16 Feb 2016 Disease Hyperostosis interna frontalis C0020494 144800 16 Feb 2016 Disease Hyperoxaluria Human Phenotype Ontology C0020500 HP:0003159 16 Feb 2016 Disease Hyperoxemia Human Phenotype Ontology C4022910 HP:0012419 16 Feb 2016 Finding Hyperparakeratosis Human Phenotype Ontology C1265968 HP:0040009 16 Feb 2016 Finding Hyperparathyroidism OMIM phenotypic series C0020502 PS145000 16 Feb 2016 Disease Hyperparathyroidism Human Phenotype Ontology C0020502 HP:0000843 16 Feb 2016 Disease Hyperparathyroidism 1 NCBI curation C1840402 145000 16 Feb 2016 Disease Hyperparathyroidism 2 NCBI curation C1704981 145001 16 Feb 2016 Disease Hyperparathyroidism 3 NCBI curation C1864729 610071 16 Feb 2016 Disease Hyperparathyroidism 4 NCBI curation C4479229 617343 20 Jun 2017 Disease Hyperparathyroidism, neonatal self-limited primary, with hypercalciuria NCBI curation C1855924 239199 16 Feb 2016 Disease Hyperparathyroidism, primary, caused by water clear cell hyperplasia NCBI curation C1838501 600166 16 Feb 2016 Disease HYPERPARATHYROIDISM, TRANSIENT NEONATAL OMIM C1300287 618188 618188 16 Nov 2018 Disease Hyperpepsinogenemia I Human Phenotype Ontology C4025638 HP:0003238 16 Feb 2016 Finding Hyperperistalsis Human Phenotype Ontology C0232474 HP:0100770 16 Feb 2016 Finding Hyperphalangism dysmorphy bronchomalacia 16 Feb 2016 Disease Hyperphalangy MONDO C4706507 MONDO:0017455 17 Apr 2020 Disease Hyperphalangy of the 2nd finger Human Phenotype Ontology C4072907 HP:0030368 16 Feb 2016 Finding Hyperphalangy of the 3rd finger Human Phenotype Ontology C4476908 HP:0031010 04 Apr 2018 Finding Hyperphalangy, bilateral MONDO MONDO:0017522 17 Apr 2020 Disease Hyperphalangy, unilateral MONDO MONDO:0017521 17 Apr 2020 Disease Hyperphenilalaninemia due to pterin-4-alpha-carbin 16 Feb 2016 Disease Hyperphenylalaninaemia CN221596 16 Feb 2016 Disease Hyperphenylalaninemia due to dehydratase deficiency 16 Feb 2016 Disease Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Orphanet C0751436 ORPHA238583 16 Feb 2016 Disease Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency NCBI curation C4017280 16 Feb 2016 Disease Hyperphenylalaninemia, BH4-deficient, D NCBI curation C1849700 264070 16 Feb 2016 Disease Hyperphenylalaninemia, bh4-deficient, due to partial pts deficiency NCBI curation 16 Feb 2016 Disease Hyperphenylalaninemia, mild, non-bh4-deficient NCBI curation C4479270 617384 20 Jun 2017 Disease Hyperphenylalaninemia, non-pku NCBI curation C0751435 16 Feb 2016 Disease Hyperphosphatasemia tarda C0432272 239100 16 Feb 2016 Disease Hyperphosphatasemia with bone disease C0268414 239000 16 Feb 2016 Disease Hyperphosphatasia with mental retardation syndrome 1 NCBI curation C4551502 239300 16 Feb 2016 Disease Hyperphosphatasia with mental retardation syndrome 2 NCBI curation C3553637 614749 16 Feb 2016 Disease Hyperphosphatasia with mental retardation syndrome 3 NCBI curation C3280153 614207 16 Feb 2016 Disease Hyperphosphatasia with mental retardation syndrome 4 NCBI curation C3810354 615716 16 Feb 2016 Disease Hyperphosphatasia with mental retardation syndrome 5 NCBI curation C4014958 616025 16 Feb 2016 Disease Hyperphosphatasia with mental retardation syndrome 6 NCBI curation C4225201 616809 16 Feb 2016 Disease Hyperphosphatasia-intellectual disability syndrome Orphanet C1855923 ORPHA247262 06 Apr 2018 Disease Hyperphosphatemia Human Phenotype Ontology C0085681 HP:0002905 16 Feb 2016 Finding Hyperphosphatemia, polyuria, and seizures NCBI curation C1855922 239350 16 Feb 2016 Disease Hyperphosphatemic familial tumoral calcinosis 1 NCBI curation C4692564 211900 27 Dec 2019 Disease Hyperphosphatemic familial tumoral calcinosis 3 NCBI curation C4693864 617994 19 Oct 2018 Disease Hyperphosphaturia Human Phenotype Ontology C0268079 HP:0003109 16 Feb 2016 Finding Hyperpigmentation 15 Mar 2018 Finding Hyperpigmentation in sun-exposed areas Human Phenotype Ontology C3805877 HP:0005586 16 Feb 2016 Finding Hyperpigmentation of eyelid C0155211 145100 16 Feb 2016 Disease Hyperpigmentation of eyelids Human Phenotype Ontology C0854438 HP:0007406 16 Feb 2016 Finding Hyperpigmentation of fuldauer and kuijpers NCBI curation C1840393 145200 16 Feb 2016 Disease Hyperpigmentation of the fundus Human Phenotype Ontology C4021146 HP:0011512 16 Feb 2016 Finding Hyperpigmentation of the skin Human Phenotype Ontology C0162834 HP:0000953 16 Feb 2016 Finding Hyperpigmentation, familial progressive, 1 NCBI curation C2681535 614233 16 Feb 2016 Disease HYPERPIGMENTATION, PROGRESSIVE CRIBRIFORM AND ZOSTERIFORM 16 Feb 2016 Disease Hyperpigmented genitalia Human Phenotype Ontology C4022554 HP:0030258 16 Feb 2016 Finding Hyperpigmented macules on dorsal penis 23 Jan 2020 Finding Hyperpigmented nevi Human Phenotype Ontology C0746889 HP:0007481 16 Feb 2016 Finding Hyperpigmented nevi and streak Human Phenotype Ontology C3805692 HP:0005606 16 Feb 2016 Finding Hyperpigmented nodule Human Phenotype Ontology C3647360 HP:0025529 04 Apr 2018 Finding Hyperpigmented papule Human Phenotype Ontology C3647115 HP:0025473 04 Apr 2018 Finding Hyperpigmented streaks Human Phenotype Ontology C1866245 HP:0007572 16 Feb 2016 Finding Hyperpigmented/hypopigmented macules Human Phenotype Ontology C4024877 HP:0007441 16 Feb 2016 Finding Hyperpipecolatemia C0282526 16 Feb 2016 Disease Hyperpituitarism Human Phenotype Ontology C0020506 HP:0010514 16 Feb 2016 Finding Hyperplasia MONDO C0020507 MONDO:0005043 17 Apr 2020 Disease Hyperplasia of midface Human Phenotype Ontology C0240309 HP:0012371 16 Feb 2016 Finding Hyperplasia of the endometrium Human Phenotype Ontology C0014173 HP:0040298 04 Apr 2018 Finding Hyperplasia of the femoral trochanters Human Phenotype Ontology C3277120 HP:0002822 16 Feb 2016 Finding Hyperplasia of the Leydig cells Human Phenotype Ontology C0023600 HP:0010791 16 Feb 2016 Finding Hyperplasia of the maxilla Human Phenotype Ontology C2227090 HP:0430028 16 Feb 2016 Finding Hyperplasia of the premaxilla Human Phenotype Ontology C4073210 HP:0430029 16 Feb 2016 Finding Hyperplastic callus formation Human Phenotype Ontology C4022548 HP:0030268 16 Feb 2016 Finding Hyperplastic colonic polyposis Human Phenotype Ontology C4023010 HP:0012183 16 Feb 2016 Finding Hyperplastic labia majora Human Phenotype Ontology C4021060 HP:0012882 16 Feb 2016 Finding Hyperplastic polyp MONDO C0333983 MONDO:0006249 17 Apr 2020 Disease Hyperproglucagonemia NCBI curation C1840388 145270 16 Feb 2016 Disease Hyperproinsulinemia NCBI curation C0342283 616214 16 Feb 2016 Disease Hyperprolactinemia Human Phenotype Ontology C0020514 HP:0000870 615555 10 Apr 2018 Disease Hyperprolactinemia;tardive dyskinesia;Weight gain PharmGKB 17 Feb 2017 Disease Hyperprolinemia Human Phenotype Ontology C0268528 HP:0008358 16 Feb 2016 Disease Hyperpronation of the ankles 07 May 2020 Finding Hyperproreninemia, familial NCBI curation C4016362 16 Feb 2016 Disease Hyperprostaglandinuria Human Phenotype Ontology C1866498 HP:0003527 16 Feb 2016 Finding Hyperproteinemia Human Phenotype Ontology C0267988 HP:0002152 16 Feb 2016 Finding Hyperreflexia Human Phenotype Ontology C0151889 HP:0001347 145290 16 Feb 2016 Finding Hyperreflexia in upper limbs Human Phenotype Ontology C1843175 HP:0007350 16 Feb 2016 Finding Hyperreflexia proximally Human Phenotype Ontology C1836012 HP:0007054 16 Feb 2016 Finding Hyperreninemic hypoaldosteronism, familial, 2 NCBI curation C1846990 606984 16 Feb 2016 Disease Hypersarcosinuria Human Phenotype Ontology C4023669 HP:0010897 16 Feb 2016 Finding Hypersecretion glaucoma MONDO C0154968 MONDO:0001205 17 Apr 2020 Disease Hypersecretion of adrenal androgens, familial MONDO C1840387 MONDO:0007775 145295 22 Apr 2020 Disease Hypersegmentation of neutrophil nuclei Human Phenotype Ontology C4025288 HP:0004821 16 Feb 2016 Finding Hypersegmentation of proximal phalanx of second finger Human Phenotype Ontology C4025080 HP:0006206 16 Feb 2016 Finding Hypersegmentation of proximal phalanx of third finger Human Phenotype Ontology C4023122 HP:0011929 16 Feb 2016 Finding Hypersensitivity pneumonitis Human Phenotype Ontology C0002390 HP:0006516 16 Feb 2016 Finding Hypersensitivity pneumonitis, familial MONDO C1840386 MONDO:0007776 145300 22 Apr 2020 Disease Hypersensitivity reaction disease MONDO MONDO:0000605 17 Apr 2020 Disease Hypersensitivity vasculitis 16 Feb 2016 Disease Hypersexuality Human Phenotype Ontology C0312420 HP:0030214 16 Feb 2016 Finding Hypersomnia Human Phenotype Ontology C0917799 HP:0100786 16 Feb 2016 Finding Hypersplenism Human Phenotype Ontology C0020532 HP:0001971 16 Feb 2016 Finding Hypertaurinuric cardiomyopathy NCBI curation C1840385 145350 16 Feb 2016 Disease Hypertelorism Human Phenotype Ontology C0020534 HP:0000316 145400 16 Feb 2016 Disease Hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes NCBI curation C3553465 614684 16 Feb 2016 Disease Hypertelorism and tetralogy of Fallot C1855903 239711 16 Feb 2016 Disease Hypertelorism, microtia, facial clefting syndrome MONDO C0220742 MONDO:0009404 239800 22 Apr 2020 Disease Hypertelorism, preauricular sinus, punctal pits, and deafness NCBI curation C3280065 614187 16 Feb 2016 Disease Hypertelorism, Teebi type NCBI curation C0796179 145420 29 Oct 2018 Disease Hypertelorism-hypospadias-polysyndactyly syndrome MONDO C1855904 MONDO:0009402 239710 22 Apr 2020 Disease Hypertension associated with pheochromocytoma Human Phenotype Ontology C4025693 HP:0002640 16 Feb 2016 Finding Hypertension resistant to conventional therapy NCBI curation C1834155 16 Feb 2016 Disease Hypertension, diastolic, resistance to NCBI curation C1837739 608622 16 Feb 2016 Disease Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy NCBI curation C4016708 16 Feb 2016 Disease Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy NCBI curation C1854631 605115 16 Feb 2016 Disease Hypertension, essential 1 NCBI curation C1858967 603918 16 Feb 2016 Disease Hypertension, essential 2 NCBI curation C1858497 604329 16 Feb 2016 Disease Hypertension, essential 3 NCBI curation C1846430 607329 16 Feb 2016 Disease Hypertension, essential 4 NCBI curation C1837479 608742 16 Feb 2016 Disease Hypertension, essential 5 NCBI curation C1853227 610261 16 Feb 2016 Disease Hypertension, essential 6 NCBI curation C1853226 610262 16 Feb 2016 Disease Hypertension, essential 7 NCBI curation C1970439 610948 16 Feb 2016 Disease Hypertension, essential 8 NCBI curation C1970244 611014 16 Feb 2016 Disease Hypertension, essential, susceptibility to NCBI curation 16 Feb 2016 Disease Hypertension, hypercholesterolemia, and hypomagnesemia, mitochondrial NCBI curation C1839021 500005 16 Feb 2016 Disease HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO 16 Feb 2016 Disease Hypertension, mild low-renin NCBI curation 16 Feb 2016 Disease Hypertension, pregnancy-induced NCBI curation C0852036 16 Feb 2016 Disease Hypertension, pregnancy-induced, susceptibility to NCBI curation C1834154 16 Feb 2016 Disease Hypertension, salt-sensitive essential, susceptibility to NCBI curation C3837651 28 Feb 2020 Disease Hypertensive crisis Human Phenotype Ontology C0020546 HP:0100735 16 Feb 2016 Finding Hypertensive disorder MONDO C0020538 MONDO:0005044 17 Apr 2020 Disease Hypertensive encephalopathy MONDO C0151620 MONDO:0006796 17 Apr 2020 Disease Hypertensive heart disease MONDO C0152105 MONDO:0001302 17 Apr 2020 Disease Hypertensive hypokalemia familial 16 Feb 2016 Disease Hypertensive renal disease C0848548 608026 16 Feb 2016 Disease Hypertensive retinopathy Human Phenotype Ontology C0152132 HP:0001095 16 Feb 2016 Finding Hyperthermia induced defects 16 Feb 2016 Disease Hyperthermia, cutaneous, with headaches and nausea NCBI curation C1840373 145590 16 Feb 2016 Disease Hyperthreoninuria Human Phenotype Ontology C2673931 HP:0003296 16 Feb 2016 Finding Hyperthyroidism Human Phenotype Ontology C0020550 HP:0000836 16 Feb 2016 Disease Hyperthyroidism due to mutations in TSH receptor 16 Feb 2016 Disease Hyperthyroidism, familial gestational NCBI curation C1863959 603373 16 Feb 2016 Disease Hyperthyroidism, nonautoimmune NCBI curation C1836706 609152 16 Feb 2016 Disease Hyperthyroxinemia MONDO C0020551 MONDO:0005333 17 Apr 2020 Disease Hyperthyroxinemia due to decreased peripheral conversion of t4 NCBI curation 16 Feb 2016 Disease Hyperthyroxinemia, dysalbuminemic NCBI curation C1863119 16 Feb 2016 Disease HYPERTHYROXINEMIA, EUTHYROID, CAUSED BY GENERALIZED 5-PRIME-DEIODINASE DEFICIENCY OMIM CN244571 617953 617953 06 May 2018 Disease Hyperthyroxinemia, familial dysalbuminemic NCBI curation C0342185 615999 16 Feb 2016 Disease Hypertonia Human Phenotype Ontology C0026826 HP:0001276 16 Feb 2016 Finding Hypertonia in extremities 27 Apr 2018 Finding hypertonia of extremities C2749427 16 Feb 2016 Finding Hypertonic dehydration Human Phenotype Ontology C1112601 HP:0001986 16 Feb 2016 Finding Hypertrichosis Human Phenotype Ontology C0020555 HP:0000998 16 Feb 2016 Disease Hypertrichosis atrophic skin ectropion macrostomia 16 Feb 2016 Disease Hypertrichosis brachydactyly obesity and mental retardation 16 Feb 2016 Disease Hypertrichosis cubiti-short stature syndrome MONDO C1841696 MONDO:0007693 139600 17 Apr 2020 Disease Hypertrichosis lanuginosa congenita C0235864 145700 16 Feb 2016 Disease Hypertrichosis of eyelid MONDO C0155213 MONDO:0001334 17 Apr 2020 Disease Hypertrichosis retinopathy dysmorphism 16 Feb 2016 Disease Hypertrichosis-acromegaloid facial appearance syndrome MONDO MONDO:0019940 17 Apr 2020 Disease Hypertrichotic osteochondrodysplasia Cantu type MONDO C0795905 MONDO:0009406 239850 17 Apr 2020 Disease Hypertriglyceridemia Human Phenotype Ontology C0813230 HP:0002155 16 Feb 2016 Finding Hypertriglyceridemia, susceptibility to NCBI curation C4016963 28 Feb 2020 Disease Hypertriglyceridemia, transient infantile NCBI curation C3280953 614480 16 Feb 2016 Disease Hypertrophia musculorum vera NCBI curation C1840361 145800 16 Feb 2016 Disease Hypertrophic auricular cartilage Human Phenotype Ontology C1857263 HP:0008608 16 Feb 2016 Finding Hypertrophic branchial myopathy 16 Feb 2016 Disease Hypertrophic cardiomyopathy Human Phenotype Ontology C0007194 HP:0001639 16 Feb 2016 Disease Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation MONDO C4749942 MONDO:0017933 17 Apr 2020 Disease Hypertrophic cardiomyopathy due to intensive athletic training MONDO CN226904 MONDO:0016332 17 Apr 2020 Disease Hypertrophic CM1 (no LVOT) CN235494 12 Mar 2016 Finding Hypertrophic elongation of cervix MONDO C0020561 MONDO:0002255 17 Apr 2020 Disease Hypertrophic hemangiectasia 16 Feb 2016 Disease Hypertrophic lichen planus MONDO C0023649 MONDO:0021377 17 Apr 2020 Disease Hypertrophic nerve changes Human Phenotype Ontology C1832776 HP:0003382 16 Feb 2016 Finding Hypertrophic neuropathy and cataract NCBI curation C1855885 239900 16 Feb 2016 Disease Hypertrophic non-obstructive cardiomyopathy C0340425 15 Mar 2016 Finding Hypertrophic or verrucous lupus erythematosus MONDO CN227653 MONDO:0019559 17 Apr 2020 Disease Hypertrophic osteoarthropathy, primary, autosomal dominant NCBI curation C2674695 167100 16 Feb 2016 Disease Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 NCBI curation C4551679 259100 05 Feb 2020 Disease hypertrophic supernumerary oral frenulae CN238741 19 Oct 2016 Finding Hypertrophy of breast MONDO MONDO:0001100 17 Apr 2020 Disease Hypertrophy of skin of soles Human Phenotype Ontology C1867617 HP:0007403 16 Feb 2016 Finding Hypertrophy of the breast, juvenile NCBI curation C0405471 113670 16 Feb 2016 Disease Hypertrophy of the lower limb Human Phenotype Ontology C4023803 HP:0010496 16 Feb 2016 Finding Hypertrophy of the upper limb Human Phenotype Ontology C0575518 HP:0010484 16 Feb 2016 Finding Hypertrophy of the urinary bladder Human Phenotype Ontology C4021531 HP:0008635 16 Feb 2016 Finding Hypertrophy of tongue papillae MONDO C0392494 MONDO:0001689 17 Apr 2020 Disease Hypertropia C0020575 18 Jan 2019 Finding Hypertrphic cardiomyopathy CN235247 19 Feb 2016 Finding Hypertrypsinemia, neonatal, susceptibility to NCBI curation 16 Feb 2016 Disease Hypertryptophanemia 16 Feb 2016 Disease Hypertryptophanemia, familial NCBI curation C2931837 600627 16 Feb 2016 Disease Hypertyrosinemia Human Phenotype Ontology C1879362 HP:0003231 16 Feb 2016 Finding Hyperuricemia Human Phenotype Ontology C0740394 HP:0002149 16 Feb 2016 Finding Hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase NCBI curation C1855884 240000 16 Feb 2016 Disease Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis NCBI curation C3151209 613845 16 Feb 2016 Disease Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome 11 Oct 2018 Finding Hyperuricemic nephropathy, familial juvenile, 2 NCBI curation C2751310 613092 16 Feb 2016 Disease Hyperuricemic nephropathy, familial juvenile, 3 NCBI curation C3280216 614227 16 Feb 2016 Disease Hyperuricemic nephropathy, familial juvenile, 4 NCBI curation C4310741 617056 24 Aug 2016 Disease Hyperuricosuria Human Phenotype Ontology C0948643 HP:0003149 16 Feb 2016 Finding Hypervalinemia Human Phenotype Ontology C0268573 HP:0010910 277100 16 Feb 2016 Disease Hypervalinemia and hyperleucine-isoleucinemia MONDO CN280851 MONDO:0100058 618850 17 Apr 2020 Disease Hyperventilation Human Phenotype Ontology C0020578 HP:0002883 16 Feb 2016 Finding Hypervitaminosis A NCBI curation C1855883 240150 16 Feb 2016 Disease Hypervitaminosis D MONDO C1442839 MONDO:0004937 17 Apr 2020 Disease Hypervolemia Human Phenotype Ontology C0546817 HP:0011105 16 Feb 2016 Finding Hyperzincemia and hypercalprotectinemia NCBI curation 16 Feb 2016 Disease Hyperzincemia with functional zinc depletion NCBI curation C1865986 601979 16 Feb 2016 Disease Hyphema Human Phenotype Ontology C0020581 HP:0011886 16 Feb 2016 Finding Hyphidrosis C0020620 16 Feb 2016 Finding Hypnagogic hallucinations Human Phenotype Ontology C0233773 HP:0002519 16 Feb 2016 Finding Hypnic headache Human Phenotype Ontology C0752150 HP:0012459 16 Feb 2016 Finding Hypnopompic hallucinations Human Phenotype Ontology C0424082 HP:0006896 16 Feb 2016 Finding hypo and hyper-autofluorescence rings 19 Mar 2020 Finding Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome MONDO C1835172 MONDO:0016574 17 Apr 2020 Disease Hypoactive bowel sounds Human Phenotype Ontology C0232695 HP:0030144 16 Feb 2016 Finding Hypoactive sexual desire disorder MONDO MONDO:0001821 17 Apr 2020 Disease Hypoadiponectinemia NCBI curation C2675519 16 Feb 2016 Disease Hypoadrenalism 16 Feb 2016 Disease Hypoadrenocorticism hypoparathyroidism moniliasis 16 Feb 2016 Disease Hypoagammaglobulinemia, X-linked 26 May 2016 Disease Hypoalbuminemia Human Phenotype Ontology C0239981 HP:0003073 16 Feb 2016 Finding Hypoaldosteronism 16 Feb 2016 Disease HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2 OMIM CN262194 618463 618463 21 Aug 2019 Disease Hypoammonemia Human Phenotype Ontology C4022041 HP:0100493 16 Feb 2016 Finding Hypoargininemia Human Phenotype Ontology C4025095 HP:0005961 16 Feb 2016 Finding Hypoautofluorescent macular lesion Human Phenotype Ontology C4073102 HP:0030632 02 Apr 2017 Finding Hypoautofluorescent retinal lesion Human Phenotype Ontology C4476624 HP:0025159 02 Apr 2017 Finding Hypobetalipoproteinaemia ataxia hearing loss 16 Feb 2016 Disease Hypobetalipoproteinemia C0020597 16 Feb 2016 Disease Hypobetalipoproteinemia, familial, 1 NCBI curation C4551990 615558 16 Feb 2016 Disease Hypobetalipoproteinemia, familial, 2 NCBI curation C1857970 605019 16 Feb 2016 Disease Hypobetalipoproteinemia, normotriglyceridemic NCBI curation CN071597 16 Feb 2016 Disease Hypocalcemia Human Phenotype Ontology C0020598 HP:0002901 16 Feb 2016 Disease Hypocalcemia, autosomal dominant 1 NCBI curation C0342345 601198 16 Feb 2016 Disease Hypocalcemia, autosomal dominant 1, with bartter syndrome NCBI curation C3715128 16 Feb 2016 Disease Hypocalcemia, autosomal dominant 2 NCBI curation C3809243 615361 22 Jun 2016 Disease Hypocalcemia, autosomal dominant, with bartter syndrome NCBI curation C1832612 16 Feb 2016 Disease Hypocalcemic rickets MONDO C4302195 MONDO:0017323 17 Apr 2020 Disease Hypocalcemic seizures Human Phenotype Ontology C1855841 HP:0002199 16 Feb 2016 Finding Hypocalcemic tetany Human Phenotype Ontology C0151940 HP:0003472 16 Feb 2016 Finding Hypocalcification of dental enamel Human Phenotype Ontology C4023541 HP:0011084 16 Feb 2016 Finding Hypocalciuria Human Phenotype Ontology C0020599 HP:0003127 16 Feb 2016 Finding Hypocalciuric hypercalcemia, acquired NCBI curation 16 Feb 2016 Disease Hypocalciuric hypercalcemia, familial, type 1 NCBI curation C0342637 145980 16 Feb 2016 Disease Hypocalciuric hypercalcemia, familial, type II NCBI curation C1840347 145981 22 Jun 2016 Disease Hypocalciuric hypercalcemia, familial, type III NCBI curation C1833372 600740 26 May 2016 Disease Hypocalciuric hypercalcemia, type II CN259039 13 Jun 2019 Disease Hypocalciuric hypercalcemia, type III CN259040 13 Jun 2019 Disease Hypocapnia Human Phenotype Ontology C0085383 HP:0012417 16 Feb 2016 Finding Hypoceruloplasminemia NCBI curation CN071464 16 Feb 2016 Disease Hypochloremia Human Phenotype Ontology C0085680 HP:0003113 16 Feb 2016 Finding Hypochloremic metabolic alkalosis Human Phenotype Ontology C0740895 HP:0005977 16 Feb 2016 Finding Hypochloriduria Human Phenotype Ontology C4021078 HP:0012601 16 Feb 2016 Finding Hypocholesterolemia Human Phenotype Ontology C0151718 HP:0003146 16 Feb 2016 Finding Hypocholinesterasemia, fluoride-resistant, japanese type NCBI curation 16 Feb 2016 Disease Hypochondriasis MONDO C0020604 MONDO:0001596 17 Apr 2020 Disease Hypochondrogenesis NCBI curation C0542428 16 Feb 2016 Disease Hypochondroplasia GeneReviews C0410529 NBK1477 146000 16 Feb 2016 Disease Hypochromic anemia Human Phenotype Ontology C0002884 HP:0001931 16 Feb 2016 Finding Hypochromic microcytic anemia Human Phenotype Ontology C0271901 HP:0004840 16 Feb 2016 Finding Hypochromic microcytic anemia with iron overload NCBI curation C2673913 21 Jan 2020 Disease Hypochromic microcytic anemia with iron overload 2 NCBI curation C3808920 615234 16 Feb 2016 Disease Hypocitraturia Human Phenotype Ontology C2673444 HP:0012405 16 Feb 2016 Finding Hypocomplementemic urticarial vasculitis C0343206 16 Feb 2016 Disease Hypocortisolemia C1833054 16 Feb 2016 Finding Hypocupremia Human Phenotype Ontology C0268070 HP:0011967 16 Feb 2016 Finding Hypodermyasis 16 Feb 2016 Disease Hypodermyiasis MONDO C0020607 MONDO:0005805 04 Jun 2020 Infectious disease Hypodipsia Human Phenotype Ontology C0919912 HP:0025382 04 Apr 2018 Finding hypodontia and microdontia 04 Dec 2019 Finding Hypodontia dysplasia of nails 16 Feb 2016 Disease Hypodontia of incisors and premolars 16 Feb 2016 Disease Hypodontia, X-linked C2931428 16 Feb 2016 Disease Hypodysfibrinogenemia NCBI curation C0472803 16 Feb 2016 Disease Hypodysfibrinogenemia, congenital NCBI curation C1859970 16 Feb 2016 Disease Hypodysplasia of the corpus callosum Human Phenotype Ontology C1850348 HP:0006849 16 Feb 2016 Finding Hypofibrinogenemia Human Phenotype Ontology C0553681 HP:0011900 16 Feb 2016 Finding Hypofibrinogenemia, congenital NCBI curation 16 Feb 2016 Disease Hypogammaglobulinemia, X-linked NCBI curation C0241932 16 Feb 2016 Disease Hypoganglionosis Human Phenotype Ontology C0546275 HP:0025150 02 Apr 2017 Finding Hypoglossal nerve disease MONDO C0152181 MONDO:0001810 17 Apr 2020 Disease Hypoglossal nerve neoplasm MONDO C1263903 MONDO:0002550 17 Apr 2020 Disease Hypoglossia with situs inversus NCBI curation C2748587 612776 16 Feb 2016 Disease Hypoglossia, isolated NCBI curation 16 Feb 2016 Disease Hypoglossia/aglossia MONDO CN228958 MONDO:0015497 17 Apr 2020 Disease Hypoglycemia Human Phenotype Ontology C0020615 HP:0001943 16 Feb 2016 Finding Hypoglycemia, neonatal, simulating foetopathia diabetica NCBI curation C1855860 240900 16 Feb 2016 Disease Hypoglycemic coma Human Phenotype Ontology C0020617 HP:0001325 16 Feb 2016 Finding Hypoglycemic encephalopathy Human Phenotype Ontology C0149877 HP:0006929 16 Feb 2016 Finding Hypoglycemic seizures Human Phenotype Ontology C0877056 HP:0002173 16 Feb 2016 Finding Hypoglycinemia Human Phenotype Ontology C4022973 HP:0012277 16 Feb 2016 Finding Hypoglycorrhachia Human Phenotype Ontology C0598121 HP:0011972 16 Feb 2016 Finding Hypoglycosylation of alpha-dystroglycan Human Phenotype Ontology C4015098 HP:0030046 16 Feb 2016 Finding Hypogonadism Human Phenotype Ontology C0020619 HP:0000135 16 Feb 2016 Finding Hypogonadism and testicular atrophy NCBI curation 16 Feb 2016 Disease Hypogonadism cardiomyopathy 16 Feb 2016 Disease Hypogonadism hypogonadotropic due to mutations in GR hormone CN072969 16 Feb 2016 Disease Hypogonadism male mental retardation skeletal anomaly 16 Feb 2016 Disease Hypogonadism mitral valve prolapse mental retardation 16 Feb 2016 Disease Hypogonadism primary partial alopecia 16 Feb 2016 Disease Hypogonadism retinitis pigmentosa 16 Feb 2016 Disease Hypogonadism with anosmia C0162809 16 Feb 2016 Disease Hypogonadism with low-grade mental deficiency and microcephaly NCBI curation C1855858 241000 16 Feb 2016 Disease Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities C0342286 241080 16 Feb 2016 Disease Hypogonadism, isolated, hypogonadotropic 16 Feb 2016 Disease Hypogonadism, male, with mental retardation and skeletal anomalies NCBI curation C1843994 307500 16 Feb 2016 Disease Hypogonadism-mitral valve prolapse-intellectual disability syndrome MONDO C2931685 MONDO:0016385 17 Apr 2020 Disease Hypogonadotropic hypogonadism 1 with or without anosmia MONDO C1563719 MONDO:0010635 308700 22 Apr 2020 Disease Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) NCBI curation CN378675 03 Aug 2017 Disease Hypogonadotropic hypogonadism 10 with or without anosmia NCBI curation C3553843 614839 16 Feb 2016 Disease Hypogonadotropic hypogonadism 10 without anosmia NCBI curation C4016274 26 May 2016 Disease Hypogonadotropic hypogonadism 11 with or without anosmia NCBI curation C3553844 614840 16 Feb 2016 Disease Hypogonadotropic hypogonadism 12 with or without anosmia NCBI curation C1856897 614841 16 Feb 2016 Disease Hypogonadotropic hypogonadism 13 with or without anosmia NCBI curation C3541462 614842 16 Feb 2016 Disease Hypogonadotropic hypogonadism 14 with anosmia NCBI curation C4016965 26 May 2016 Disease Hypogonadotropic hypogonadism 14 with or without anosmia NCBI curation C3540450 614858 16 Feb 2016 Disease Hypogonadotropic hypogonadism 15 with anosmia NCBI curation CN257939 29 Dec 2018 Disease Hypogonadotropic hypogonadism 15 with or without anosmia NCBI curation C3553977 614880 16 Feb 2016 Disease HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY TO 16 Feb 2016 Disease Hypogonadotropic hypogonadism 16 with or without anosmia NCBI curation C3554021 614897 16 Feb 2016 Disease Hypogonadotropic hypogonadism 17 with or without anosmia NCBI curation C3808971 615266 16 Feb 2016 Disease Hypogonadotropic hypogonadism 18 with anosmia NCBI curation C4016983 26 May 2016 Disease HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA, SUSCEPTIBILITY TO 16 Feb 2016 Disease Hypogonadotropic hypogonadism 18 with or without anosmia NCBI curation C3808975 615267 16 Feb 2016 Disease Hypogonadotropic hypogonadism 19 with or without anosmia NCBI curation C3808981 615269 16 Feb 2016 Disease Hypogonadotropic hypogonadism 2 with anosmia NCBI curation C4016104 20 Jul 2018 Disease Hypogonadotropic hypogonadism 2 with or without anosmia MONDO C1563720 MONDO:0007844 147950 22 Apr 2020 Disease Hypogonadotropic hypogonadism 20 with or without anosmia NCBI curation C3808983 615270 16 Feb 2016 Disease Hypogonadotropic hypogonadism 20 without anosmia NCBI curation C4016855 24 Aug 2016 Disease HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO 16 Feb 2016 Disease Hypogonadotropic hypogonadism 21 with or without anosmia NCBI curation C3808986 615271 16 Feb 2016 Disease Hypogonadotropic hypogonadism 22 with anosmia NCBI curation C4017302 20 Jan 2018 Disease Hypogonadotropic hypogonadism 22 with or without anosmia NCBI curation C4014988 616030 16 Feb 2016 Disease Hypogonadotropic hypogonadism 23 with or without anosmia CN260070 19 Jun 2019 Disease Hypogonadotropic hypogonadism 24 without anosmia MONDO C1856716 MONDO:0009239 229070 09 May 2020 Disease HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA OMIM CN272917 618841 618841 09 Apr 2020 Disease Hypogonadotropic hypogonadism 3 without anosmia NCBI curation C4017072 26 May 2016 Disease Hypogonadotropic hypogonadism 4 with or without anosmia NCBI curation C3552343 610628 21 Sep 2018 Disease Hypogonadotropic hypogonadism 5 with or without anosmia MONDO C3552553 MONDO:0012880 612370 22 Apr 2020 Disease Hypogonadotropic hypogonadism 5 without anosmia NCBI curation C3552136 17 Dec 2017 Disease Hypogonadotropic hypogonadism 6 with or without anosmia MONDO C3552574 MONDO:0012988 612702 22 Apr 2020 Disease Hypogonadotropic hypogonadism 7 with or without anosmia NCBI curation C0342384 146110 06 Mar 2016 Disease Hypogonadotropic hypogonadism 8 with or without anosmia NCBI curation C3553841 614837 16 Feb 2016 Disease Hypogonadotropic hypogonadism 8 without anosmia NCBI curation C4016875 24 Aug 2016 Disease Hypogonadotropic hypogonadism 9 with or without anosmia NCBI curation C3553842 614838 16 Feb 2016 Disease Hypogonadotropic hypogonadism associated with other endocrinopathies MONDO CN228992 MONDO:0015891 17 Apr 2020 Disease Hypogonadotropic hypogonadism with or without anosmia OMIM phenotypic series CN235466 PS147950 06 Mar 2016 Disease Hypogonadotropic hypogonadism without anosmia, X-linked 16 Feb 2016 Disease Hypogonadotropic hypogonadism-anosmia 16 Feb 2016 Disease Hypogonadotropic hypogonadism-anosmia, X-linked 16 Feb 2016 Disease Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome MONDO CN201280 MONDO:0016384 17 Apr 2020 Disease Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome MONDO C2931722 MONDO:0016386 17 Apr 2020 Disease Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome MONDO C4751123 MONDO:0017406 17 Apr 2020 Disease Hypohaptoglobinemia NCBI curation C3279787 16 Feb 2016 Disease Hypohidrosis Human Phenotype Ontology C0553721 HP:0000966 16 Feb 2016 Finding Hypohidrosis or hyperhidrosis Human Phenotype Ontology C4021831 HP:0007550 16 Feb 2016 Finding Hypohidrosis with abnormal palmar dermal ridges NCBI curation C1855856 241120 16 Feb 2016 Disease Hypohidrotic ectodermal dysplasia Orphanet C1706004 ORPHA238468 01 Jun 2016 Disease Hypohidrotic ectodermal dysplasia Human Phenotype Ontology C1706004 HP:0007607 01 Jun 2016 Disease Hypohidrotic Ectodermal Dysplasia, Dominant CN239335 02 Dec 2016 Disease Hypohidrotic Ectodermal Dysplasia, Recessive CN239465 02 Dec 2016 Disease Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome MONDO C1857052 MONDO:0009150 225050 17 Apr 2020 Disease Hypohidrotic X-linked ectodermal dysplasia NCBI curation C0162359 305100 16 Feb 2016 Disease Hypoinsulinemia Human Phenotype Ontology C2748055 HP:0040216 02 Apr 2017 Finding Hypoinsulinemic hypoglycemia and hemihypertrophy NCBI curation C3278384 26 May 2016 Disease Hypointensity of cerebral white matter on MRI Human Phenotype Ontology C4020908 HP:0007103 16 Feb 2016 Finding Hypokalemia Human Phenotype Ontology C0020621 HP:0002900 16 Feb 2016 Finding Hypokalemic alkalosis Human Phenotype Ontology C0085570 HP:0001949 16 Feb 2016 Finding Hypokalemic alkalosis with hypercalcinuria 16 Feb 2016 Disease Hypokalemic hypochloremic metabolic alkalosis Human Phenotype Ontology C0740896 HP:0004909 16 Feb 2016 Finding Hypokalemic metabolic alkalosis Human Phenotype Ontology C0740898 HP:0001960 16 Feb 2016 Finding Hypokalemic periodic paralysis NCBI curation C0238358 16 Feb 2016 Disease Hypokalemic periodic paralysis 1 NCBI curation C3714580 170400 16 Feb 2016 Disease Hypokalemic periodic paralysis, type 2 NCBI curation C2750061 613345 16 Feb 2016 Disease Hypoketonemic hypoglycemia 16 Feb 2016 Disease Hypoketotic hypoglycemia Human Phenotype Ontology C1856438 HP:0001985 16 Feb 2016 Finding Hypokinesia Human Phenotype Ontology C0086439 HP:0002375 16 Feb 2016 Finding Hypokinetic non-dilated cardiomyopathy CN262502 20 Jun 2017 Disease Hypokinetic seizures Human Phenotype Ontology C4023498 HP:0011173 16 Feb 2016 Finding Hypolipidemia Human Phenotype Ontology C0342892 HP:0045014 16 Feb 2016 Finding Hypolipoproteinemia Human Phenotype Ontology C0020623 HP:0010981 16 Feb 2016 Disease Hypolipoproteinemia (disease) MONDO MONDO:0001822 17 Apr 2020 Disease Hypomagnesemia OMIM phenotypic series C0151723 PS602014 16 Feb 2016 Finding Hypomagnesemia Human Phenotype Ontology C0151723 HP:0002917 16 Feb 2016 Finding Hypomagnesemia 1, intestinal NCBI curation C1865974 602014 16 Feb 2016 Disease Hypomagnesemia 4, renal NCBI curation C2673648 611718 16 Feb 2016 Disease Hypomagnesemia 5, renal, with ocular involvement NCBI curation C4721891 248190 16 Feb 2016 Disease Hypomagnesemia 6, renal NCBI curation C3151295 613882 16 Feb 2016 Disease Hypomagnesemia, seizures, and mental retardation OMIM phenotypic series CN263093 PS616418 29 Dec 2019 Disease Hypomagnesemia, seizures, and mental retardation 1 NCBI curation C4225333 616418 29 Dec 2019 Disease Hypomagnesemia, seizures, and mental retardation 2 NCBI curation C5193023 618314 29 Dec 2019 Disease Hypomagnesiuria Human Phenotype Ontology C3203528 HP:0012609 16 Feb 2016 Finding Hypomandibular faciocranial dysostosis C1855848 241310 16 Feb 2016 Disease Hypomature dental enamel Human Phenotype Ontology C4023540 HP:0011085 16 Feb 2016 Finding hypomelais of ito 05 Sep 2019 Finding Hypomelanosis of Ito C0022283 300337 16 Feb 2016 Disease Hypomelanotic disorder 16 Feb 2016 Disease Hypomelanotic macule Human Phenotype Ontology C4024220 HP:0009719 02 Apr 2017 Finding Hypomethioninemia Human Phenotype Ontology C1848555 HP:0003658 16 Feb 2016 Finding Hypometric horizontal saccades Human Phenotype Ontology C1856478 HP:0007975 16 Feb 2016 Finding Hypometric saccades Human Phenotype Ontology C0423082 HP:0000571 16 Feb 2016 Finding Hypomimic face Human Phenotype Ontology C0813217 HP:0000338 16 Feb 2016 Finding Hypomineralization of enamel Human Phenotype Ontology C3665628 HP:0006285 16 Feb 2016 Finding Hypomyelinating leukodystrophy NCBI curation CN228461 16 Feb 2016 Disease Hypomyelinating leukodystrophy 3 MONDO C1850053 MONDO:0009843 260600 22 Apr 2020 Disease Hypomyelinating leukodystrophy 7 NCBI curation C2676243 607694 16 Feb 2016 Disease Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism NCBI curation C3280644 614381 16 Feb 2016 Disease Hypomyelinating neuropathy, congenital, 1 CN259062 14 Jun 2019 Disease Hypomyelination and Congenital Cataract GeneReviews C1864663 NBK2587 610532 16 Feb 2016 Disease Hypomyelination neuropathy-arthrogryposis syndrome MONDO C4707882 MONDO:0017049 17 Apr 2020 Disease Hypomyelination with brainstem and spinal cord involvement and leg spasticity NCBI curation C3809008 615281 16 Feb 2016 Disease Hypomyelination, global cerebral NCBI curation C2751855 612949 16 Feb 2016 Disease Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome MONDO CN237713 MONDO:0018655 17 Apr 2020 Disease Hyponasal speech Human Phenotype Ontology C4022173 HP:0100271 16 Feb 2016 Finding Hyponatremia Human Phenotype Ontology C0020625 HP:0002902 16 Feb 2016 Finding Hyponatriuria Human Phenotype Ontology C4022824 HP:0012604 16 Feb 2016 Finding Hypoparathyroidism Human Phenotype Ontology C0020626 HP:0000829 16 Feb 2016 Disease Hypoparathyroidism - X-linked NCBI curation C0342344 307700 16 Feb 2016 Disease Hypoparathyroidism short stature mental retardation 16 Feb 2016 Disease Hypoparathyroidism, autosomal recessive NCBI curation C1840334 16 Feb 2016 Disease HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2 OMIM CN280929 618883 618883 16 May 2020 Disease Hypoparathyroidism-deafness-renal disease syndrome MONDO C1840333 MONDO:0007797 146255 17 Apr 2020 Disease Hypoparathyroidism-retardation-dysmorphism syndrome MONDO C1855840 MONDO:0009426 241410 22 Apr 2020 Disease Hypoperistalsis Human Phenotype Ontology C0232475 HP:0100771 16 Feb 2016 Finding Hypopharyngeal cancer 16 Feb 2016 Disease Hypopharyngeal carcinoma MONDO C1368404 MONDO:0005216 17 Apr 2020 Disease Hypopharynx cancer MONDO MONDO:0005806 17 Apr 2020 Disease Hypophosphatasia C0020630 16 Feb 2016 Disease Hypophosphatasia, perinatal lethal NCBI curation C2673477 16 Feb 2016 Disease Hypophosphatemia Human Phenotype Ontology C0085682 HP:0002148 16 Feb 2016 Finding Hypophosphatemia, renal, with intracerebral calcifications NCBI curation C1855809 241519 16 Feb 2016 Disease Hypophosphatemic bone disease NCBI curation C1840321 146350 16 Feb 2016 Disease Hypophosphatemic rickets OMIM phenotypic series C1704375 PS193100 16 Feb 2016 Disease Hypophosphatemic rickets Human Phenotype Ontology C1704375 HP:0004912 16 Feb 2016 Disease Hypophosphatemic rickets and hyperparathyroidism NCBI curation C2677524 612089 16 Feb 2016 Disease Hypophosphatemic Rickets Disorders CN230104 16 Feb 2016 Disease Hypophosphatemic rickets with hyperparathyroidism CN231411 16 Feb 2016 Disease Hypophosphatemic rickets, AR CN259041 13 Jun 2019 Disease Hypophosphatemic rickets, autosomal recessive, 2 NCBI curation C2750078 613312 16 Feb 2016 Disease Hypophosphatemic Rickets, Dominant CN239437 02 Dec 2016 Disease Hypophosphatemic Rickets, Recessive CN239452 02 Dec 2016 Disease Hypophosphatemic rickets, X-linked recessive NCBI curation C1845168 300554 16 Feb 2016 Disease Hypophosphaturia Human Phenotype Ontology C0268077 HP:0012365 16 Feb 2016 Finding Hypophysitis MONDO C0342409 MONDO:0021156 17 Apr 2020 Disease hypopigmentation 19 Jan 2019 Finding Hypopigmentation of hair Human Phenotype Ontology C3278401 HP:0005599 16 Feb 2016 Finding Hypopigmentation of the fundus Human Phenotype Ontology C0151891 HP:0007894 16 Feb 2016 Finding Hypopigmentation of the skin Human Phenotype Ontology C0162835 HP:0001010 16 Feb 2016 Finding HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT OMIM C5203300 618541 618541 17 Aug 2019 Disease Hypopigmented fundi 15 Mar 2018 Finding Hypopigmented genitalia Human Phenotype Ontology C4022553 HP:0030259 16 Feb 2016 Finding Hypopigmented macule 12 Jun 2020 Finding Hypopigmented macules on face, neck and extremities CN262504 22 Jun 2017 Finding Hypopigmented skin patches Human Phenotype Ontology C1836735 HP:0001053 16 Feb 2016 Finding Hypopigmented skin patches on arms Human Phenotype Ontology C4024852 HP:0007526 16 Feb 2016 Finding Hypopigmented streaks Human Phenotype Ontology C1866244 HP:0007535 16 Feb 2016 Finding Hypopituitarism Human Phenotype Ontology C0020635 HP:0040075 16 Feb 2016 Finding Hypopituitarism micropenis cleft lip palate 16 Feb 2016 Disease Hypopituitarism postaxial polydactyly 16 Feb 2016 Disease Hypopituitarism, congenital, with central diabetes insipidus NCBI curation C1855800 241540 16 Feb 2016 Disease Hypoplasia hepatic ductular 16 Feb 2016 Disease Hypoplasia of deltoid muscle Human Phenotype Ontology C1868170 HP:0030241 16 Feb 2016 Finding Hypoplasia of dental enamel Human Phenotype Ontology C0011351 HP:0006297 16 Feb 2016 Finding hypoplasia of distal phalanges 21 Jun 2020 Finding Hypoplasia of eyelid Human Phenotype Ontology C0344499 HP:0430009 16 Feb 2016 Finding Hypoplasia of facial musculature Human Phenotype Ontology C1834042 HP:0004660 16 Feb 2016 Finding Hypoplasia of fetal nasal bone Human Phenotype Ontology C4023363 HP:0011430 16 Feb 2016 Finding Hypoplasia of first ribs Human Phenotype Ontology C1834386 HP:0006657 16 Feb 2016 Finding Hypoplasia of latissimus dorsi muscle Human Phenotype Ontology C3805860 HP:0009026 16 Feb 2016 Finding Hypoplasia of lymphatic vessels Human Phenotype Ontology C4025570 HP:0003759 16 Feb 2016 Finding hypoplasia of nails of fifth finger 21 Jun 2020 Finding Hypoplasia of olfactory tract Human Phenotype Ontology C1856655 HP:0007036 16 Feb 2016 Finding Hypoplasia of penis Human Phenotype Ontology C0266435 HP:0008736 16 Feb 2016 Finding Hypoplasia of proximal fibula Human Phenotype Ontology C1859478 HP:0006442 16 Feb 2016 Finding Hypoplasia of proximal radius Human Phenotype Ontology C1859477 HP:0006434 16 Feb 2016 Finding Hypoplasia of right ventricle Human Phenotype Ontology C4082954 HP:0004762 16 Feb 2016 Finding Hypoplasia of serratus anterior muscle Human Phenotype Ontology C1868167 HP:0009011 16 Feb 2016 Finding Hypoplasia of teeth Human Phenotype Ontology C0235357 HP:0000685 16 Feb 2016 Finding Hypoplasia of the abdominal wall musculature Human Phenotype Ontology C3279407 HP:0005247 16 Feb 2016 Finding Hypoplasia of the anterior nasal spine Human Phenotype Ontology C4023751 HP:0010666 16 Feb 2016 Finding Hypoplasia of the antihelix Human Phenotype Ontology C4021394 HP:0009739 16 Feb 2016 Finding Hypoplasia of the aortic valve annulus 28 Jun 2019 Finding Hypoplasia of the bladder Human Phenotype Ontology C1855335 HP:0005343 16 Feb 2016 Finding Hypoplasia of the brainstem Human Phenotype Ontology C1842688 HP:0002365 16 Feb 2016 Finding Hypoplasia of the calcaneus Human Phenotype Ontology C3550873 HP:0012789 16 Feb 2016 Finding Hypoplasia of the capital femoral epiphysis Human Phenotype Ontology C1839254 HP:0003090 16 Feb 2016 Finding Hypoplasia of the ciliary body Human Phenotype Ontology C1836890 HP:0007774 16 Feb 2016 Finding Hypoplasia of the cochlea Human Phenotype Ontology C2676974 HP:0008586 16 Feb 2016 Finding Hypoplasia of the corpus callosum Human Phenotype Ontology C0344482 HP:0002079 16 Feb 2016 Finding Hypoplasia of the dental root Human Phenotype Ontology C4280722 HP:0040221 02 Apr 2017 Finding Hypoplasia of the diaphragm Human Phenotype Ontology C4022473 HP:0040044 16 Feb 2016 Finding Hypoplasia of the ear cartilage Human Phenotype Ontology C4021986 HP:0100720 16 Feb 2016 Finding Hypoplasia of the eccrine sweat glands Human Phenotype Ontology C4022474 HP:0040043 16 Feb 2016 Finding Hypoplasia of the epiglottis Human Phenotype Ontology C1396772 HP:0005349 16 Feb 2016 Finding Hypoplasia of the fallopian tube Human Phenotype Ontology C1968706 HP:0008697 16 Feb 2016 Finding Hypoplasia of the femoral head Human Phenotype Ontology C1856920 HP:0008802 16 Feb 2016 Finding Hypoplasia of the frontal bone Human Phenotype Ontology C1845147 HP:0005466 16 Feb 2016 Finding Hypoplasia of the frontal lobes Human Phenotype Ontology C1849172 HP:0007333 16 Feb 2016 Finding Hypoplasia of the gallbladder Human Phenotype Ontology C0345282 HP:0005233 16 Feb 2016 Finding Hypoplasia of the iris Human Phenotype Ontology C0344539 HP:0007676 16 Feb 2016 Finding Hypoplasia of the iris dilator muscle Human Phenotype Ontology C4024696 HP:0008345 16 Feb 2016 Finding Hypoplasia of the lacrimal puncta Human Phenotype Ontology C4021564 HP:0007892 16 Feb 2016 Finding Hypoplasia of the lesser trochanter Human Phenotype Ontology C1840062 HP:0008801 16 Feb 2016 Finding Hypoplasia of the lower eyelids Human Phenotype Ontology C4024814 HP:0007697 16 Feb 2016 Finding Hypoplasia of the mandible 26 Sep 2019 Finding Hypoplasia of the maxilla Human Phenotype Ontology C0240310 HP:0000327 16 Feb 2016 Finding Hypoplasia of the musculature Human Phenotype Ontology C0240414 HP:0009004 16 Feb 2016 Finding Hypoplasia of the musculature of the pelvis Human Phenotype Ontology C4477084 HP:0500026 04 Apr 2018 Finding Hypoplasia of the nasal bone Human Phenotype Ontology C4021651 HP:0004646 16 Feb 2016 Finding Hypoplasia of the olfactory bulb Human Phenotype Ontology C4477049 HP:0040326 04 Apr 2018 Finding Hypoplasia of the optic tract Human Phenotype Ontology C1856654 HP:0007096 16 Feb 2016 Finding Hypoplasia of the ovary Human Phenotype Ontology C0685840 HP:0008724 16 Feb 2016 Finding Hypoplasia of the phalanges of the toes Human Phenotype Ontology C4023715 HP:0010746 16 Feb 2016 Finding Hypoplasia of the pharynx Human Phenotype Ontology C4024295 HP:0009555 16 Feb 2016 Finding Hypoplasia of the pons Human Phenotype Ontology C1848529 HP:0012110 16 Feb 2016 Finding Hypoplasia of the premaxilla Human Phenotype Ontology C4020770 HP:0010650 16 Feb 2016 Finding Hypoplasia of the primary teeth Human Phenotype Ontology C1855694 HP:0006334 16 Feb 2016 Finding Hypoplasia of the prostate Human Phenotype Ontology C1844923 HP:0008687 16 Feb 2016 Finding Hypoplasia of the pyramidal tract Human Phenotype Ontology C1850871 HP:0007348 16 Feb 2016 Finding Hypoplasia of the radius Human Phenotype Ontology C0685381 HP:0002984 16 Feb 2016 Finding Hypoplasia of the retina Human Phenotype Ontology C1854685 HP:0007770 16 Feb 2016 Finding Hypoplasia of the semicircular canal Human Phenotype Ontology C3552156 HP:0011382 16 Feb 2016 Finding Hypoplasia of the small intestine Human Phenotype Ontology C4025291 HP:0004790 16 Feb 2016 Finding Hypoplasia of the thymus Human Phenotype Ontology C0685891 HP:0000778 16 Feb 2016 Finding Hypoplasia of the tibia with polydactyly 16 Feb 2016 Disease Hypoplasia of the tooth germ Human Phenotype Ontology C4025055 HP:0006353 16 Feb 2016 Finding Hypoplasia of the ulna Human Phenotype Ontology C1862132 HP:0003022 16 Feb 2016 Finding Hypoplasia of the upper arm musculature Human Phenotype Ontology C4022562 HP:0030239 16 Feb 2016 Finding Hypoplasia of the upper eyelids Human Phenotype Ontology C4022481 HP:0040032 16 Feb 2016 Finding Hypoplasia of the uterus Human Phenotype Ontology C0266399 HP:0000013 16 Feb 2016 Finding Hypoplasia of the vagina Human Phenotype Ontology C0345309 HP:0008726 16 Feb 2016 Finding Hypoplasia of the ventral pons Human Phenotype Ontology C1843507 HP:0006850 16 Feb 2016 Finding Hypoplasia of the vestibular nerve Human Phenotype Ontology C4020750 HP:0011394 16 Feb 2016 Finding Hypoplasia of the vestibule of the inner ear Human Phenotype Ontology C4023388 HP:0011378 16 Feb 2016 Finding Hypoplasia of the zygomatic bone Human Phenotype Ontology C4021242 HP:0010669 16 Feb 2016 Finding hypoplasia of vermis 26 Oct 2019 Finding Hypoplasminogenemia 16 Feb 2016 Disease Hypoplastic 5th lumbar vertebrae Human Phenotype Ontology C1859366 HP:0008424 16 Feb 2016 Finding Hypoplastic acetabulae Human Phenotype Ontology C1846442 HP:0003274 16 Feb 2016 Finding Hypoplastic anemia Human Phenotype Ontology C0178416 HP:0001908 16 Feb 2016 Finding Hypoplastic anterior commissure Human Phenotype Ontology C4022524 HP:0030303 16 Feb 2016 Finding Hypoplastic aorta Human Phenotype Ontology C4476811 HP:0025495 04 Apr 2018 Finding Hypoplastic aortic arch Human Phenotype Ontology C0265881 HP:0012304 16 Feb 2016 Finding Hypoplastic aortic valve 22 Jun 2020 Finding Hypoplastic areola Human Phenotype Ontology C3276032 HP:0100853 16 Feb 2016 Finding Hypoplastic cervical vertebrae Human Phenotype Ontology C1835570 HP:0008434 16 Feb 2016 Finding Hypoplastic coccygeal vertebrae Human Phenotype Ontology C2751480 HP:0008447 16 Feb 2016 Finding Hypoplastic colon Human Phenotype Ontology C1392839 HP:0005210 16 Feb 2016 Finding Hypoplastic distal humeri Human Phenotype Ontology C1968607 HP:0005025 16 Feb 2016 Finding Hypoplastic distal radial epiphyses Human Phenotype Ontology C1969286 HP:0006386 16 Feb 2016 Finding Hypoplastic distal segments of scapulae Human Phenotype Ontology C4025014 HP:0006631 16 Feb 2016 Finding Hypoplastic enamel-onycholysis-hypohidrosis syndrome C0406735 189500 16 Feb 2016 Disease Hypoplastic facial bones Human Phenotype Ontology C1846438 HP:0002692 16 Feb 2016 Finding Hypoplastic female external genitalia Human Phenotype Ontology C4022715 HP:0012815 16 Feb 2016 Finding Hypoplastic fifth fingernail Human Phenotype Ontology C4024682 HP:0008398 16 Feb 2016 Finding Hypoplastic fifth toenail Human Phenotype Ontology C4023116 HP:0011937 16 Feb 2016 Finding Hypoplastic fingernail Human Phenotype Ontology C1856786 HP:0001804 16 Feb 2016 Finding Hypoplastic frontal sinuses Human Phenotype Ontology C1859682 HP:0002738 16 Feb 2016 Finding Hypoplastic heart Human Phenotype Ontology C3151525 HP:0001961 16 Feb 2016 Finding Hypoplastic helices Human Phenotype Ontology C1842681 HP:0008589 16 Feb 2016 Finding Hypoplastic hippocampus Human Phenotype Ontology C4476822 HP:0025517 04 Apr 2018 Finding Hypoplastic ilia Human Phenotype Ontology C1861218 HP:0000946 16 Feb 2016 Finding Hypoplastic iliac body Human Phenotype Ontology C1849034 HP:0008824 16 Feb 2016 Finding Hypoplastic iliac wing Human Phenotype Ontology C1865027 HP:0002866 16 Feb 2016 Finding Hypoplastic inferior ilia Human Phenotype Ontology C1837078 HP:0008821 16 Feb 2016 Finding Hypoplastic inferior pubic rami Human Phenotype Ontology C1853573 HP:0008823 16 Feb 2016 Finding Hypoplastic iris stroma Human Phenotype Ontology C1860344 HP:0007990 16 Feb 2016 Finding Hypoplastic ischia Human Phenotype Ontology C1859447 HP:0003175 16 Feb 2016 Finding Hypoplastic ischiopubic rami Human Phenotype Ontology C4024617 HP:0008822 16 Feb 2016 Finding Hypoplastic L5 vertebral pedicle Human Phenotype Ontology C4022539 HP:0030279 16 Feb 2016 Finding Hypoplastic labia majora Human Phenotype Ontology C0566899 HP:0000059 16 Feb 2016 Finding Hypoplastic labia minora Human Phenotype Ontology C1849295 HP:0000064 16 Feb 2016 Finding Hypoplastic lacrimal duct Human Phenotype Ontology C1968574 HP:0007900 16 Feb 2016 Finding Hypoplastic left atrium Human Phenotype Ontology C1970625 HP:0005156 16 Feb 2016 Finding Hypoplastic left heart syndrome OMIM phenotypic series C0152101 PS241550 31 Aug 2017 Disease Hypoplastic left heart syndrome Orphanet C0152101 ORPHA2248 31 Aug 2017 Disease Hypoplastic left heart syndrome 1 NCBI curation C4551854 241550 31 Aug 2017 Disease Hypoplastic left heart syndrome 2 NCBI curation C3280795 614435 16 Feb 2016 Disease hypoplastic left ventricle 18 Jan 2019 Finding Hypoplastic male external genitalia Human Phenotype Ontology C1852534 HP:0000050 16 Feb 2016 Finding Hypoplastic mitral valve 22 Jun 2020 Finding hypoplastic nails of the fifth digits. 20 Sep 2018 Finding Hypoplastic nasal bridge Human Phenotype Ontology C1865597 HP:0005281 16 Feb 2016 Finding Hypoplastic nasal septum Human Phenotype Ontology C1861328 HP:0005104 16 Feb 2016 Finding Hypoplastic nasal tip Human Phenotype Ontology C1844731 HP:0005278 16 Feb 2016 Finding Hypoplastic nasopharyngeal adenoids Human Phenotype Ontology C4280691 HP:0040258 02 Apr 2017 Finding Hypoplastic nipples Human Phenotype Ontology C0432355 HP:0002557 16 Feb 2016 Finding Hypoplastic olfactory lobes Human Phenotype Ontology C1859231 HP:0006894 16 Feb 2016 Finding Hypoplastic pelvis Human Phenotype Ontology C3536734 HP:0008839 16 Feb 2016 Finding Hypoplastic philtrum Human Phenotype Ontology C1856886 HP:0005326 16 Feb 2016 Finding Hypoplastic pilosebaceous units Human Phenotype Ontology C1832454 HP:0007515 16 Feb 2016 Finding Hypoplastic posterior communicating artery Human Phenotype Ontology C4020720 HP:0012519 16 Feb 2016 Finding Hypoplastic pubic bone Human Phenotype Ontology C1865030 HP:0003173 16 Feb 2016 Finding Hypoplastic pubic rami Human Phenotype Ontology C1969176 HP:0008830 16 Feb 2016 Finding Hypoplastic pulmonary veins Human Phenotype Ontology C1970501 HP:0005304 16 Feb 2016 Finding Hypoplastic radial head Human Phenotype Ontology C4021695 HP:0003997 16 Feb 2016 Finding Hypoplastic right atrium Human Phenotype Ontology C4531222 HP:0031294 04 Apr 2018 Finding Hypoplastic right heart Human Phenotype Ontology C0265856 HP:0010954 16 Feb 2016 Finding Hypoplastic right heart syndrome Orphanet C0344963 ORPHA98723 07 Sep 2017 Disease Hypoplastic right heart; intrauterine growth retardation 16 Feb 2016 Finding Hypoplastic right heart; tricuspid atresia; muscular ventricular septal defect; single umbilical artery 16 Feb 2016 Finding hypoplastic right ventricular 05 Sep 2019 Finding Hypoplastic sacral vertebrae Human Phenotype Ontology C2751479 HP:0008475 16 Feb 2016 Finding Hypoplastic sacrum Human Phenotype Ontology C1970816 HP:0004590 16 Feb 2016 Finding Hypoplastic scapulae Human Phenotype Ontology C1846434 HP:0000882 16 Feb 2016 Finding hypoplastic scrotal sac 22 Oct 2019 Finding Hypoplastic spinal processes Human Phenotype Ontology C4024674 HP:0008460 16 Feb 2016 Finding Hypoplastic spleen Human Phenotype Ontology C1970617 HP:0006270 16 Feb 2016 Finding Hypoplastic superior helix Human Phenotype Ontology C1865305 HP:0008559 16 Feb 2016 Finding Hypoplastic sweat glands Human Phenotype Ontology C1832455 HP:0007387 16 Feb 2016 Finding hypoplastic thumb 19 Jan 2019 Finding Hypoplastic thumb mullerian aplasia 16 Feb 2016 Disease Hypoplastic thumbnail Human Phenotype Ontology C4022850 HP:0012553 16 Feb 2016 Finding Hypoplastic thumbs hydranencephaly 16 Feb 2016 Disease Hypoplastic tibiae-postaxial polydactyly syndrome MONDO C4274307 MONDO:0018052 17 Apr 2020 Disease Hypoplastic toenails Human Phenotype Ontology C1837279 HP:0001800 16 Feb 2016 Finding Hypoplastic tricuspid valve Human Phenotype Ontology C0265837 HP:0011573 16 Feb 2016 Finding Hypoplastic vertebral bodies Human Phenotype Ontology C1863353 HP:0008479 16 Feb 2016 Finding Hypoplastic vertebral pedicle Human Phenotype Ontology C4022540 HP:0030278 16 Feb 2016 Finding Hypoplastic-absent sebaceous glands Human Phenotype Ontology C1844617 HP:0007411 16 Feb 2016 Finding Hypopnea Human Phenotype Ontology C0235546 HP:0040213 02 Apr 2017 Finding Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration NCBI curation C1846582 607236 16 Feb 2016 Disease Hypoproteinemia Human Phenotype Ontology C0392692 HP:0003075 16 Feb 2016 Finding Hypoproteinemia, hypercatabolic NCBI curation C1855796 241600 16 Feb 2016 Disease Hypoproteinemic edema Human Phenotype Ontology C4024832 HP:0007609 16 Feb 2016 Finding Hypopyon MONDO C0020641 MONDO:0001036 04 Jun 2020 Infectious disease Hypopyon ulcer MONDO C0155070 MONDO:0001035 04 Jun 2020 Infectious disease Hyporeflective spaces on macular OCT Human Phenotype Ontology C4073095 HP:0030625 16 Feb 2016 Finding Hyporeflexia Human Phenotype Ontology C0700078 HP:0001265 16 Feb 2016 Finding Hyporeflexia of lower limbs Human Phenotype Ontology C1834696 HP:0002600 16 Feb 2016 Finding Hyporeflexia of upper limbs Human Phenotype Ontology C1836835 HP:0012391 16 Feb 2016 Finding Hyporeninemic hypoaldosteronism 16 Feb 2016 Disease Hyposegmentation of neutrophil nuclei Human Phenotype Ontology C4023351 HP:0011447 16 Feb 2016 Finding Hyposerinemia Human Phenotype Ontology C4022971 HP:0012279 16 Feb 2016 Finding Hyposmia Human Phenotype Ontology C2364082 HP:0004409 16 Feb 2016 Finding Hyposmia nasal hypoplasia hypogonadism 16 Feb 2016 Disease Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome MONDO C4510568 MONDO:0016393 17 Apr 2020 Disease Hypospadias C0848558 16 Feb 2016 Disease Hypospadias 1, X-linked NCBI curation C2678098 300633 16 Feb 2016 Disease Hypospadias 2, X-linked NCBI curation C2677879 300758 16 Feb 2016 Disease Hypospadias 3, autosomal NCBI curation C2675154 146450 16 Feb 2016 Disease Hypospadias 4, X-linked, susceptibility to NCBI curation C3275458 300856 16 Feb 2016 Disease Hypospadias, penile NCBI curation C1691215 08 Oct 2018 Finding Hypospadias-intellectual disability, Goldblatt type syndrome MONDO C0795989 MONDO:0009435 241760 17 Apr 2020 Disease Hypospermatogenesis NCBI curation 16 Feb 2016 Disease Hypospermatogenesis, nonobstructive, Y-linked NCBI curation C4016596 26 May 2016 Disease Hyposthenuria Human Phenotype Ontology C0232831 HP:0003158 16 Feb 2016 Finding Hypotelorism Human Phenotype Ontology C0424711 HP:0000601 16 Feb 2016 Finding Hypotelorism cleft palate hypospadias 16 Feb 2016 Disease Hypotension Human Phenotype Ontology C0020649 HP:0002615 16 Feb 2016 Finding Hypotension, orthostatic NCBI curation 16 Feb 2016 Disease Hypotensive disorder MONDO MONDO:0005468 17 Apr 2020 Disease Hypothalamic adipsic hypernatraemia syndrome MONDO CN237660 MONDO:0018620 17 Apr 2020 Disease Hypothalamic arteriovenous malformation Human Phenotype Ontology C4531244 HP:0031255 04 Apr 2018 Finding Hypothalamic atrophy Human Phenotype Ontology C4476574 HP:0025058 02 Apr 2017 Finding Hypothalamic disease MONDO C0020655 MONDO:0002150 17 Apr 2020 Disease Hypothalamic dysfunction 16 Feb 2016 Disease Hypothalamic gliosis Human Phenotype Ontology C4476558 HP:0025037 02 Apr 2017 Finding Hypothalamic gonadotropin-releasing hormone deficiency Human Phenotype Ontology C4025644 HP:0003164 02 Apr 2017 Finding Hypothalamic hamartomas with gelastic seizures MONDO CN227637 MONDO:0019484 17 Apr 2020 Disease Hypothalamic hypometabolism in FDG PET Human Phenotype Ontology C4022795 HP:0012661 16 Feb 2016 Finding Hypothalamic hypothyroidism Human Phenotype Ontology C3887992 HP:0008237 275120 16 Feb 2016 Disease Hypothalamic luteinizing hormone-releasing hormone deficiency Human Phenotype Ontology C4022967 HP:0012287 16 Feb 2016 Finding Hypothalamic neoplasm MONDO C0020659 MONDO:0006799 17 Apr 2020 Disease Hypothermia Human Phenotype Ontology C0020672 HP:0002045 16 Feb 2016 Finding Hypothyroidism Human Phenotype Ontology C0020676 HP:0000821 16 Feb 2016 Finding Hypothyroidism due to deficient transcription factors involved in pituitary development or function MONDO CN201345 MONDO:0016411 17 Apr 2020 Disease Hypothyroidism due to iodide transport defect C0271826 16 Feb 2016 Disease Hypothyroidism postaxial polydactyly mental retardation 16 Feb 2016 Disease Hypothyroidism, central, and testicular enlargement NCBI curation C3550963 300888 16 Feb 2016 Disease Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia CN259042 13 Jun 2019 Disease Hypothyroidism, congenital, nongoitrous OMIM phenotypic series CN263255 PS275200 08 Feb 2020 Disease Hypothyroidism, congenital, nongoitrous, 1 NCBI curation C3493776 275200 16 Feb 2016 Disease Hypothyroidism, congenital, nongoitrous, 2 MONDO C1869118 MONDO:0024264 218700 22 Apr 2020 Disease Hypothyroidism, congenital, nongoitrous, 3 NCBI curation C2940785 609893 16 Feb 2016 Disease Hypothyroidism, congenital, nongoitrous, 5 NCBI curation C2673630 225250 16 Feb 2016 Disease Hypothyroidism, congenital, nongoitrous, 6 NCBI curation C3280817 614450 16 Feb 2016 Disease HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7 OMIM CN262229 618573 618573 07 Sep 2019 Disease HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8 OMIM C5231395 301033 301033 28 Sep 2019 Disease HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9 OMIM C5231396 301035 301035 28 Sep 2019 Disease Hypothyroidism, isolated, TRHR related CN236391 29 Apr 2016 Disease Hypothyroidism, thyroidal, with spiky hair and cleft palate NCBI curation C1968699 16 Feb 2016 Disease hypotonia 18 Aug 2017 Finding Hypotonia, ataxia, and delayed development syndrome NCBI curation C4310618 617330 20 Jun 2017 Disease HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME OMIM C4693578 617915 617915 29 Mar 2018 Disease Hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses MONDO C1970936 MONDO:0010262 300184 22 Apr 2020 Disease HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES OMIM C5193124 618493 618493 15 Sep 2019 Disease Hypotonia, improved 23 Jan 2020 Finding Hypotonia, infantile, with psychomotor retardation NCBI curation C4225196 616816 26 May 2016 Disease Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 NCBI curation C3809454 615419 24 Aug 2016 Disease Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 NCBI curation C4225203 616801 16 Feb 2016 Disease Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 NCBI curation C4225161 616900 11 Dec 2018 Disease Hypotonia, seizures, and precocious puberty NCBI curation C2748586 612777 16 Feb 2016 Disease Hypotonia-cystinuria syndrome NCBI curation C1848030 606407 16 Feb 2016 Disease Hypotonia-cystinuria syndrome type 1 MONDO CN226952 MONDO:0016538 17 Apr 2020 Disease Hypotonia-speech impairment-severe cognitive delay syndrome Orphanet C4706556 ORPHA371364 18 Jun 2017 Disease Hypotonic cerebral palsy MONDO C0394007 MONDO:0020695 17 Apr 2020 Disease Hypotonic sclerotic muscular dystrophy 16 Feb 2016 Disease Hypotrichosis OMIM phenotypic series C4721530 PS605389 06 May 2020 Finding Hypotrichosis MONDO C4721530 MONDO:0003037 06 May 2020 Finding Hypotrichosis Human Phenotype Ontology C4721530 HP:0001006 06 May 2020 Finding Hypotrichosis 1 MONDO C4551976 MONDO:0011549 605389 22 Apr 2020 Disease Hypotrichosis 10 NCBI curation C3280253 614238 16 Feb 2016 Disease Hypotrichosis 11 NCBI curation C3554409 615059 16 Feb 2016 Disease Hypotrichosis 12 NCBI curation C4014563 615885 16 Feb 2016 Disease Hypotrichosis 13 NCBI curation C4014616 615896 16 Feb 2016 Disease HYPOTRICHOSIS 14 OMIM C4748930 618275 618275 10 Jan 2019 Disease Hypotrichosis 2 NCBI curation C1840299 146520 16 Feb 2016 Disease Hypotrichosis 3 NCBI curation C3151432 613981 16 Feb 2016 Disease Hypotrichosis 4 NCBI curation C2750815 146550 24 Aug 2016 Disease Hypotrichosis 5 NCBI curation C2748535 612841 16 Feb 2016 Disease Hypotrichosis 6 NCBI curation C1842839 607903 16 Feb 2016 Disease Hypotrichosis 7 NCBI curation C1836672 604379 16 Feb 2016 Disease Hypotrichosis 8 NCBI curation C3279470 278150 16 Feb 2016 Disease Hypotrichosis 9 NCBI curation C3280252 614237 16 Feb 2016 Disease Hypotrichosis and recurrent skin vesicles NCBI curation C2751292 613102 16 Feb 2016 Disease Hypotrichosis mental retardation Lopes type 16 Feb 2016 Disease Hypotrichosis of eyelid MONDO C0155214 MONDO:0001335 17 Apr 2020 Disease Hypotrichosis of the scalp Human Phenotype Ontology C1873509 HP:0004782 16 Feb 2016 Finding Hypotrichosis type 8 CN233202 16 Feb 2016 Finding Hypotrichosis with juvenile macular dystrophy 12 Feb 2020 Disease Hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate NCBI curation C1836521 609250 16 Feb 2016 Disease Hypotrichosis-deafness syndrome MONDO CN204237 MONDO:0018021 17 Apr 2020 Disease Hypotrichosis-intellectual disability, Lopes type MONDO CN201347 MONDO:0016414 17 Apr 2020 Disease Hypotrichosis-lymphedema-telangiectasia syndrome NCBI curation C1843004 607823 16 Feb 2016 Disease Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome NCBI curation C1843285 607658 16 Feb 2016 Disease Hypotriglyceridemia Human Phenotype Ontology C0542037 HP:0012153 16 Feb 2016 Finding Hypotrophy of the small hand muscles Human Phenotype Ontology C1843228 HP:0006006 16 Feb 2016 Finding Hypotropia MONDO C0152208 MONDO:0004897 17 Apr 2020 Disease Hypouricemia Human Phenotype Ontology C0221333 HP:0003537 16 Feb 2016 Finding Hypouricemia, familial renal, due to tubular hypersecretion NCBI curation C1843972 307830 16 Feb 2016 Disease Hypouricemia, hypercalcinuria, and decreased bone density NCBI curation C1855793 242050 16 Feb 2016 Disease Hypoventilation Human Phenotype Ontology C3203358 HP:0002791 16 Feb 2016 Finding Hypovolemia Human Phenotype Ontology C0546884 HP:0011106 16 Feb 2016 Finding Hypovolemic shock Human Phenotype Ontology C0020683 HP:0031274 04 Apr 2018 Finding Hypoxanthine guanine phosphoribosyltransferase suppressor NCBI curation C1840297 146580 16 Feb 2016 Disease Hypoxemia Human Phenotype Ontology C0700292 HP:0012418 16 Feb 2016 Finding hypoxia C0242184 18 Jan 2019 Finding Hypoxic Ischemic Encephalopathy C0752304 20 Sep 2018 Disease Hypoxic ischemic encephalopathy, grade 2 20 Sep 2018 Finding Hypsarrhythmia Human Phenotype Ontology C0684276 HP:0002521 16 Feb 2016 Finding Hystrix-like ichthyosis with deafness NCBI curation C1865234 602540 16 Feb 2016 Disease I blood group system NCBI curation C0020717 110800 16 Feb 2016 Blood group Iatrogenic botulism MONDO C4288922 MONDO:0016778 04 Jun 2020 Infectious disease Iatrogenic disease MONDO C0020732 MONDO:0043543 17 Apr 2020 Disease Iatrogenic Kaposi's sarcoma MONDO C1334149 MONDO:0005188 17 Apr 2020 Disease Iatrogenic or traumatic pituitary deficiency MONDO CN229231 MONDO:0019845 17 Apr 2020 Disease IBIDS syndrome 16 Feb 2016 Disease Ibuprofen response NCBI curation CN185913 16 Feb 2016 Pharmacological response Ichthyosiform erythroderma with hair abnormality and mental and growth retardation NCBI curation 16 Feb 2016 Disease Ichthyosis (disease) MONDO C0020757 MONDO:0019269 17 Apr 2020 Disease Ichthyosis and male hypogonadism C1839989 308200 16 Feb 2016 Disease Ichthyosis associated with ocular features MONDO MONDO:0020268 17 Apr 2020 Disease Ichthyosis bullosa of Siemens C0432306 146800 16 Feb 2016 Disease Ichthyosis congenita with biliary atresia C0400974 242400 16 Feb 2016 Disease Ichthyosis deafness mental retardation skeletal anomaly 16 Feb 2016 Disease Ichthyosis exfoliativa NCBI curation C1838440 16 Feb 2016 Disease Ichthyosis follicularis Human Phenotype Ontology C4531223 HP:0031291 04 Apr 2018 Finding Ichthyosis histrix, curth-macklin type NCBI curation C4016141 16 Feb 2016 Disease Ichthyosis hystrix of Curth-Macklin MONDO C1840296 MONDO:0007808 146590 17 Apr 2020 Disease Ichthyosis lamellar, recessive CN073006 16 Feb 2016 Disease Ichthyosis male hypogonadism 16 Feb 2016 Disease Ichthyosis mental retardation dwarfism renal impairment 16 Feb 2016 Disease Ichthyosis microphthalmos 16 Feb 2016 Disease Ichthyosis prematurity syndrome C1837610 608649 16 Feb 2016 Disease Ichthyosis vulgaris C0079584 146700 16 Feb 2016 Disease Ichthyosis, cerebellar degeneration and hepatosplenomegaly C1275088 242520 16 Feb 2016 Disease Ichthyosis, congenital, autosomal recessive 11 NCBI curation C1835851 602400 24 Aug 2016 Disease Ichthyosis, congenital, autosomal recessive 12 NCBI curation C4310621 617320 20 Jun 2017 Disease ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 OMIM C4539772 617574 617574 16 Jul 2017 Disease ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14 OMIM C4539754 617571 617571 15 Jul 2017 Disease Ichthyosis, congenital, autosomal recessive 4B (harlequin) CN260069 19 Jun 2019 Disease Ichthyosis, congenital, with trichothiodystrophy NCBI curation 16 Feb 2016 Disease Ichthyosis, cyclic, with epidermolytic hyperkeratosis NCBI curation C1843463 607602 16 Feb 2016 Disease Ichthyosis, erythrokeratolysis hemalis 16 Feb 2016 Disease Ichthyosis, spastic quadriplegia, and mental retardation NCBI curation C3280856 614457 16 Feb 2016 Disease Ichthyosis, Spastic Qudraplegia and Mental Retardation CN229780 16 Feb 2016 Disease Ichthyosis, split hairs, and amino aciduria NCBI curation C1855786 242550 16 Feb 2016 Disease ICHTHYOSIS, X-LINKED, COMPLICATED 16 Feb 2016 Disease Ichthyosis, X-linked, without steroid sulfatase deficiency NCBI curation C1848387 300001 16 Feb 2016 Disease Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome MONDO C1855788 MONDO:0009444 242510 17 Apr 2020 Disease Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome MONDO C1855787 MONDO:0009446 242530 17 Apr 2020 Disease Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin C1832858 601039 16 Feb 2016 Disease Ichthyosis-oral and digital anomalies syndrome MONDO C1850268 MONDO:0009792 258840 17 Apr 2020 Disease ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES OMIM C5193147 618527 618527 10 Aug 2019 Disease ID CN238748 19 Oct 2016 Finding ID and poor night vision CN238713 19 Oct 2016 Finding Ideomotor apraxia MONDO MONDO:0006800 17 Apr 2020 Disease Idiopathic achalasia MONDO C0859976 MONDO:0019635 17 Apr 2020 Disease Idiopathic acute eosinophilic pneumonia C4518469 16 Feb 2016 Infectious disease Idiopathic acute transverse myelitis MONDO CN199397 MONDO:0015344 17 Apr 2020 Disease Idiopathic alveolar hypoventilation syndrome 16 Feb 2016 Disease Idiopathic anaphylaxis MONDO C0413235 MONDO:0100054 17 Apr 2020 Disease Idiopathic and/or familial pulmonary arterial hypertension Orphanet CN924911 ORPHA422 08 Apr 2018 Disease idiopathic angioedema 05 Sep 2019 Disease Idiopathic anterior uveitis MONDO C0339315 MONDO:0017256 17 Apr 2020 Disease Idiopathic atypical mycobacterial infection 16 Feb 2016 Disease Idiopathic avascular necrosis MONDO CN229158 MONDO:0018380 17 Apr 2020 Disease Idiopathic basal ganglia calcification NCBI curation CN263207 25 Jan 2020 Disease Idiopathic basal ganglia calcification 1 NCBI curation C4551624 213600 01 Jan 2020 Disease Idiopathic basal ganglia calcification 5 NCBI curation C3809645 615483 16 Feb 2016 Disease Idiopathic bilateral vestibulopathy MONDO C4545229 MONDO:0015743 17 Apr 2020 Disease Idiopathic bronchiectasis C0339985 23 Aug 2019 Disease Idiopathic camptocormia MONDO C0264162 MONDO:0015271 17 Apr 2020 Disease Idiopathic cardiomyopathy C0033141 19 Feb 2016 Finding Idiopathic central precocious puberty MONDO C0342544 MONDO:0015713 17 Apr 2020 Disease Idiopathic chronic eosinophilic pneumonia MONDO C2930941 MONDO:0017363 22 Apr 2020 Disease Idiopathic congenital hypothyroidism MONDO C4273913 MONDO:0019858 17 Apr 2020 Disease Idiopathic copper-associated cirrhosis MONDO C4274853 MONDO:0016204 17 Apr 2020 Disease Idiopathic corneal edema MONDO C0155109 MONDO:0001182 17 Apr 2020 Disease Idiopathic diffuse interstitial fibrosis 16 Feb 2016 Disease Idiopathic dilatation of the pulmonary artery 16 Feb 2016 Disease Idiopathic disseminated cytomegalovirus infection MONDO CN272467 MONDO:0018108 04 Jun 2020 Infectious disease Idiopathic double athetosis 16 Feb 2016 Disease Idiopathic dropped head syndrome MONDO CN237712 MONDO:0018654 17 Apr 2020 Disease Idiopathic ductopenia MONDO CN776851 MONDO:0018807 17 Apr 2020 Disease Idiopathic eosinophilic chronic pneumopathy 16 Feb 2016 Disease Idiopathic eosinophilic myositis MONDO C4755301 MONDO:0016610 17 Apr 2020 Disease Idiopathic eosinophilic pneumonia MONDO C3872845 MONDO:0015927 17 Apr 2020 Disease idiopathic epilepsy 05 Sep 2019 Finding idiopathic fibrosing alveolitis 14 Mar 2019 Finding Idiopathic fibrosing alveolitis, chronic form C1800706 178500 16 Feb 2016 Disease Idiopathic gastroparesis MONDO C0859972 MONDO:0034150 17 Apr 2020 Disease Idiopathic generalized epilepsy C0270850 600669 16 Feb 2016 Disease Idiopathic granulomatous myositis MONDO C1334150 MONDO:0002644 17 Apr 2020 Disease Idiopathic growth hormone deficiency NCBI curation C0342381 16 Feb 2016 Disease Idiopathic hypereosinophilic syndrome C0206141 607685 16 Feb 2016 Disease Idiopathic hypersomnia C0751757 18 Jan 2019 Finding Idiopathic hypersomnia with long sleep time MONDO C2711059 MONDO:0016451 17 Apr 2020 Disease Idiopathic hypersomnia without long sleep time MONDO C1561855 MONDO:0016452 17 Apr 2020 Disease Idiopathic infantile nystagmus Orphanet CN228588 ORPHA651 16 Feb 2016 Disease Idiopathic inherited hypercalciuria MONDO C0543800 MONDO:0016352 17 Apr 2020 Disease idiopathic insomnia 18 Jan 2019 Finding Idiopathic interstitial pneumonia MONDO C2350236 MONDO:0002429 04 Jun 2020 Infectious disease Idiopathic juvenile osteoporosis NCBI curation C0264080 259750 27 Nov 2019 Disease Idiopathic juxtafoveal retinal telangiectasia 16 Feb 2016 Disease Idiopathic linear interstitial keratitis MONDO C4751438 MONDO:0017789 17 Apr 2020 Disease Idiopathic livedo reticularis with systemic involvement C0282492 182410 16 Feb 2016 Disease Idiopathic localized lipodystrophy MONDO CN227650 MONDO:0019554 17 Apr 2020 Disease Idiopathic macular telangiectasia type 1 MONDO C4751437 MONDO:0018146 17 Apr 2020 Disease Idiopathic macular telangiectasia type 3 MONDO C4751436 MONDO:0018147 17 Apr 2020 Disease Idiopathic malabsorption due to bile acid synthesis defects MONDO CN206092 MONDO:0019393 17 Apr 2020 Disease Idiopathic mast cell activation syndrome MONDO MONDO:0100051 17 Apr 2020 Disease Idiopathic membranous glomerulonephritis Orphanet C0086445 ORPHA97560 08 Apr 2018 Disease Idiopathic neonatal atrial flutter MONDO C4275090 MONDO:0018684 17 Apr 2020 Disease Idiopathic nephrotic syndrome Orphanet C3496337 ORPHA357502 16 Mar 2018 Disease Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes MONDO CN200064 MONDO:0015654 17 Apr 2020 Disease Idiopathic panuveitis MONDO C4707884 MONDO:0017258 17 Apr 2020 Disease Idiopathic peliosis hepatis MONDO CN776852 MONDO:0018809 17 Apr 2020 Disease Idiopathic peripheral autonomic neuropathy MONDO C0154690 MONDO:0001295 17 Apr 2020 Disease Idiopathic phalangeal acro-osteolysis MONDO CN237689 MONDO:0018635 17 Apr 2020 Disease Idiopathic pleuroparenchymal fibroelastosis MONDO CN272495 MONDO:0044633 04 Jun 2020 Infectious disease Idiopathic posterior uveitis MONDO C4751435 MONDO:0017257 17 Apr 2020 Disease Idiopathic progressive polyneuropathy MONDO C0154756 MONDO:0001073 17 Apr 2020 Disease Idiopathic pulmonary artery dilatation MONDO CN226723 MONDO:0015664 17 Apr 2020 Disease Idiopathic pulmonary hemosiderosis NCBI curation C0020807 235500 16 Feb 2016 Disease Idiopathic pulmonary hemosiderosis NCBI curation C0020807 178550 16 Feb 2016 Disease Idiopathic recurrent and disabling cutaneous herpes MONDO CN272501 MONDO:0018107 04 Jun 2020 Infectious disease Idiopathic recurrent pericarditis MONDO C4707790 MONDO:0016662 17 Apr 2020 Disease Idiopathic recurrent stupor MONDO C4706562 MONDO:0017170 17 Apr 2020 Disease Idiopathic scoliosis C0595995 29 Mar 2017 Disease Idiopathic severe pneumococcemia MONDO CN281666 MONDO:0018111 04 Jun 2020 Infectious disease idiopathic short stature C1740819 18 Jan 2019 Finding Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation MONDO MONDO:0019651 17 Apr 2020 Disease Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis MONDO MONDO:0019649 17 Apr 2020 Disease Idiopathic steroid-sensitive nephrotic syndrome with minimal change MONDO MONDO:0019650 17 Apr 2020 Disease Idiopathic subglottic tracheal stenosis 16 Feb 2016 Disease Idiopathic syringomyelia MONDO C4511700 MONDO:0020510 17 Apr 2020 Disease Idiopathic torsion dystonia MONDO MONDO:0044811 17 Apr 2020 Disease Idiopathic transverse myelitis NCBI curation C1719404 23 Apr 2018 Disease idiopathic urticaria NCBI curation C0157741 05 Sep 2019 Disease Idiopathic uveal effusion syndrome MONDO C4755300 MONDO:0016206 17 Apr 2020 Disease IDUA pseudodeficiency NCBI curation C4016443 06 Mar 2016 Disease IFAP syndrome with or without BRESHECK syndrome NCBI curation C1839988 308205 16 Feb 2016 Disease IFN-gamma receptor 1 deficiency NCBI curation C4288927 16 Mar 2018 Disease IgA deficiency Human Phenotype Ontology C0162538 HP:0002720 16 Feb 2016 Finding IgA deposition in the glomerulus Human Phenotype Ontology C4025827 HP:0000794 16 Feb 2016 Finding IgA nephropathy 2 NCBI curation C3151378 613944 17 Jan 2017 Disease IgA nephropathy, susceptibility to NCBI curation CN069886 17 Jan 2017 Disease IgA nephropathy, susceptibility to, 1 NCBI curation C3160719 161950 17 Jan 2017 Disease IgA nephropathy, susceptibility to, 3 NCBI curation C4225194 616818 23 Oct 2016 Disease IgA pemphigus MONDO C1274167 MONDO:0034127 17 Apr 2020 Disease IgAD1 MONDO C2931161 MONDO:0007644 137100 22 Apr 2020 Disease IgE deficiency Human Phenotype Ontology C0860904 HP:0005479 16 Feb 2016 Finding Ige responsiveness, atopic NCBI curation C1840253 147050 16 Feb 2016 Disease Ige, elevated level of NCBI curation C0236175 16 Feb 2016 Disease IGF1R-Related Disorder 29 Aug 2019 Disease IgG deficiency Human Phenotype Ontology C4520847 HP:0004315 16 Feb 2016 Finding IGG receptor I, phagocytic, familial deficiency of NCBI curation C4016211 06 Mar 2016 Disease IgG4-related aortitis MONDO CN237738 MONDO:0018672 17 Apr 2020 Disease IgG4-related dacryoadenitis and sialadenitis MONDO C0026103 MONDO:0019191 17 Apr 2020 Disease IgG4-related disease MONDO C3203653 MONDO:0017287 17 Apr 2020 Disease IgG4-related kidney disease MONDO CN237737 MONDO:0018671 17 Apr 2020 Disease IgG4-related mediastinitis MONDO C0264573 MONDO:0018978 17 Apr 2020 Disease IgG4-related mesenteritis MONDO C0267770 MONDO:0016544 17 Apr 2020 Disease IgG4-related ophthalmic disease MONDO CN237741 MONDO:0018675 17 Apr 2020 Disease IgG4-related pachymeningitis MONDO C4545992 MONDO:0018673 17 Apr 2020 Disease IgG4-related retroperitoneal fibrosis MONDO C0035357 MONDO:0018848 17 Apr 2020 Disease IgG4-related sclerosing cholangitis MONDO C4302109 MONDO:0018645 17 Apr 2020 Disease IgG4-related submandibular gland disease MONDO CN237740 MONDO:0018674 17 Apr 2020 Disease IgG4-related thyroid disease MONDO C0154162 MONDO:0018992 17 Apr 2020 Disease IGHMBP2-related condition 27 Apr 2018 Finding IGHMBP2-related neuronopathy 21 May 2020 Disease IgM deficiency Human Phenotype Ontology C0239989 HP:0002850 16 Feb 2016 Finding Iida Kannari syndrome C2931159 16 Feb 2016 Disease IL10-Receptor Defects CN181669 16 Feb 2016 Disease IL1RAPL1-Related Disorder 13 Oct 2017 Disease IL21R immunodeficiency NCBI curation C3554687 615207 16 Feb 2016 Disease Ileal adenocarcinoma Human Phenotype Ontology C4072936 HP:0030412 02 Apr 2017 Finding Ileal atresia Human Phenotype Ontology C0266176 HP:0011102 16 Feb 2016 Finding Ileal neoplasm MONDO C0020876 MONDO:0006801 17 Apr 2020 Disease Ileal neuroendocrine tumor G1 MONDO C0745216 MONDO:0006250 17 Apr 2020 Disease Ileal neuroendocrine tumor, well differentiated, low or intermediate grade MONDO C4525628 MONDO:0015065 17 Apr 2020 Disease Ileocolitis MONDO C0949272 MONDO:0005534 17 Apr 2020 Disease Ileum cancer MONDO MONDO:0000955 17 Apr 2020 Disease Ileus Human Phenotype Ontology C1258215 HP:0002595 16 Feb 2016 Finding Iliac arterial calcification Human Phenotype Ontology C4531214 HP:0031304 04 Apr 2018 Finding Iliac crest serration Human Phenotype Ontology C1857186 HP:0008786 16 Feb 2016 Finding Iliac horns Human Phenotype Ontology C0263925 HP:0009780 16 Feb 2016 Finding Iliac vein thrombophlebitis MONDO C0347887 MONDO:0001148 17 Apr 2020 Disease Illusory auras Human Phenotype Ontology C4023083 HP:0012008 16 Feb 2016 Finding Iloperidone response NCBI curation CN221251 16 Feb 2016 Pharmacological response Ilyina Amoashy Grygory syndrome 16 Feb 2016 Disease IMAGAWA-MATSUMOTO SYNDROME OMIM CN263292 618786 618786 23 Feb 2020 Disease Imaizumi Kuroki syndrome 16 Feb 2016 Disease Imatinib response CN077988 16 Feb 2016 Pharmacological response Imbalanced hemoglobin synthesis Human Phenotype Ontology C4025177 HP:0005560 16 Feb 2016 Finding IMERSLUND-GRASBECK SYNDROME 2 OMIM CN280935 618882 618882 20 May 2020 Disease Imerslund-Gräsbeck syndrome 1 NCBI curation CN280937 261100 20 May 2020 Disease Iminoglycinuria C0268654 242600 16 Feb 2016 Disease Iminoglycinuria, digenic NCBI curation C3148959 16 Feb 2016 Disease Imipramine response NCBI curation CN221257 16 Feb 2016 Pharmacological response imipramine response - Dosage, Toxicity/ADR PharmGKB CN236532 1183617220 18 May 2016 Pharmacological response Immature cataract MONDO C2960113 MONDO:0001175 17 Apr 2020 Disease Immature extragonadal teratoma MONDO C0855163 MONDO:0024857 17 Apr 2020 Disease Immature gastric teratoma MONDO C1334151 MONDO:0004048 17 Apr 2020 Disease Immature ovarian teratoma MONDO C0346182 MONDO:0018369 17 Apr 2020 Disease Immature teratoma MONDO C0334520 MONDO:0024746 17 Apr 2020 Disease Immature teratoma of vulva MONDO MONDO:0020652 17 Apr 2020 Disease Immotile cilia Human Phenotype Ontology C1855672 HP:0012263 16 Feb 2016 Finding Immotile cilia syndrome due to defective radial spokes C0340035 242670 16 Feb 2016 Disease Immotile cilia syndrome due to excessively long cilia C0340036 242680 16 Feb 2016 Disease Immune complex mediated vasculitis MONDO CN228955 MONDO:0015491 17 Apr 2020 Disease Immune deficiency disease NCBI curation C1855771 242850 16 Feb 2016 Disease Immune deficiency with skin involvement MONDO CN229184 MONDO:0019305 17 Apr 2020 Disease Immune deficiency, familial variable C1840266 146830 16 Feb 2016 Disease immune disorder not elsewhere classified 05 Sep 2019 Finding Immune dysregulation Human Phenotype Ontology C1844666 HP:0002958 16 Feb 2016 Finding Immune dysregulation disease with immunodeficiency MONDO CN200214 MONDO:0015710 17 Apr 2020 Disease Immune dysregulation with inflammatory bowel disease MONDO CN261141 MONDO:0033967 17 Apr 2020 Disease Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome Orphanet CN744913 ORPHA238569 19 Jan 2018 Disease Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome MONDO CN261142 MONDO:0033968 17 Apr 2020 Disease Immune epilepsy MONDO MONDO:0100028 17 Apr 2020 Disease Immune hydrops fetalis MONDO C0455990 MONDO:0018221 17 Apr 2020 Disease Immune response to synthetic polypeptide--IRGAT NCBI curation C1840267 146820 16 Feb 2016 Disease Immune response to synthetic polypeptide--irhgal NCBI curation C1840260 146950 16 Feb 2016 Disease Immune response to synthetic polypeptide--IRPHEGAL NCBI curation C1840268 146810 16 Feb 2016 Disease Immune response to synthetic polypeptide--irtgal NCBI curation C1840259 146960 16 Feb 2016 Disease Immune suppression NCBI curation C1840264 146850 16 Feb 2016 Disease Immune system cancer MONDO MONDO:0000621 17 Apr 2020 Disease Immune system disease MONDO MONDO:0005046 17 Apr 2020 Disease Immune system organ benign neoplasm MONDO MONDO:0000630 17 Apr 2020 Disease Immune thrombocytopenia 16 Feb 2016 Disease Immune-complex glomerulonephritis MONDO C0744421 MONDO:0003140 17 Apr 2020 Disease Immune-mediated acquired neuromuscular junction disease MONDO CN242076 MONDO:0018743 17 Apr 2020 Disease Immune-mediated necrotizing myopathy MONDO C3267047 MONDO:0016098 17 Apr 2020 Disease Immuno-osseous dysplasia MONDO C0432218 MONDO:0015708 17 Apr 2020 Disease Immunodeficiency Human Phenotype Ontology C0021051 HP:0002721 16 Feb 2016 Finding Immunodeficiency 11 NCBI curation C3554686 615206 24 Aug 2016 Disease IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS OMIM C4539957 617638 617638 24 Aug 2017 Disease Immunodeficiency 12 NCBI curation C3809583 615468 16 Feb 2016 Disease Immunodeficiency 13 NCBI curation C3809768 615518 16 Feb 2016 Disease Immunodeficiency 14 NCBI curation C3714976 615513 24 Aug 2016 Disease Immunodeficiency 15 NCBI curation C4747743 615592 16 Feb 2016 Disease IMMUNODEFICIENCY 15A OMIM C4748694 618204 618204 30 Nov 2018 Disease Immunodeficiency 16 NCBI curation C3810053 615593 16 Feb 2016 Disease Immunodeficiency 17 NCBI curation C3810107 615607 16 Feb 2016 Disease Immunodeficiency 17, CD3 gamma deficient CN260088 20 Jun 2019 Disease Immunodeficiency 18 NCBI curation C3810127 615615 16 Feb 2016 Disease Immunodeficiency 18, scid variant NCBI curation C3810129 16 Feb 2016 Disease Immunodeficiency 18, severe combined immunodeficiency variant NCBI curation C3810128 16 Feb 2016 Disease Immunodeficiency 19 NCBI curation C3810147 615617 16 Feb 2016 Disease Immunodeficiency 20 NCBI curation C3810342 615707 16 Feb 2016 Disease Immunodeficiency 22 NCBI curation C4014233 615758 16 Feb 2016 Disease Immunodeficiency 23 NCBI curation C4014371 615816 16 Feb 2016 Disease Immunodeficiency 24 NCBI curation C4014617 615897 16 Feb 2016 Disease Immunodeficiency 26 with or without neurologic abnormalities NCBI curation C4014833 615966 16 Feb 2016 Disease Immunodeficiency 26 without neurologic abnormalities NCBI curation C4016698 26 May 2016 Disease Immunodeficiency 27A, mycobacteriosis, AR CN260089 20 Jun 2019 Disease Immunodeficiency 27b NCBI curation C4014863 615978 16 Feb 2016 Disease Immunodeficiency 27B, mycobacteriosis, AD CN260090 20 Jun 2019 Disease Immunodeficiency 28 NCBI curation C4013947 614889 16 Feb 2016 Disease Immunodeficiency 29 NCBI curation C4013948 614890 16 Feb 2016 Disease Immunodeficiency 29, mycobacteriosis CN260091 20 Jun 2019 Disease Immunodeficiency 30 NCBI curation C4013949 614891 16 Feb 2016 Disease Immunodeficiency 31a NCBI curation C4013950 614892 16 Feb 2016 Disease Immunodeficiency 31C NCBI curation C3279990 614162 16 Feb 2016 Disease Immunodeficiency 31C, autosomal dominant CN259019 13 Jun 2019 Disease Immunodeficiency 32a NCBI curation C3808589 614893 24 Aug 2016 Disease Immunodeficiency 32b NCBI curation C4016741 226990 10 Jun 2018 Disease IMMUNODEFICIENCY 33, MALE-RESTRICTED 11 Jun 2020 Disease Immunodeficiency 36 NCBI curation C4014934 616005 16 Feb 2016 Disease Immunodeficiency 37 NCBI curation C4015195 616098 16 Feb 2016 Disease Immunodeficiency 38 CN260092 20 Jun 2019 Disease Immunodeficiency 38 with basal ganglia calcification NCBI curation C4015293 616126 24 Aug 2016 Disease Immunodeficiency 39 NCBI curation C4225358 616345 16 Feb 2016 Disease Immunodeficiency 40 NCBI curation C4225328 616433 16 Feb 2016 Disease Immunodeficiency 42 NCBI curation C4225266 616622 16 Feb 2016 Disease Immunodeficiency 44 NCBI curation C4225260 616636 16 Feb 2016 Disease Immunodeficiency 45 NCBI curation C4225252 616669 16 Feb 2016 Disease Immunodeficiency 46 NCBI curation C4225219 616740 16 Feb 2016 Disease Immunodeficiency 47 NCBI curation C4310819 300972 03 Jul 2016 Disease Immunodeficiency 49 NCBI curation C4310656 617237 20 Jun 2017 Disease Immunodeficiency 50 NCBI curation C4310812 300988 20 Jun 2017 Disease Immunodeficiency 51 NCBI curation C4310803 613953 26 Dec 2017 Disease Immunodeficiency 52 NCBI curation C4479588 617514 20 Jun 2017 Disease IMMUNODEFICIENCY 53 OMIM C4539811 617585 617585 26 Jul 2017 Disease Immunodeficiency 57 MONDO C4748212 MONDO:0020849 618108 28 May 2020 Disease IMMUNODEFICIENCY 60 OMIM C5193072 618394 618394 19 Apr 2019 Disease Immunodeficiency 61 NCBI curation C1845903 300310 31 Dec 2019 Disease IMMUNODEFICIENCY 62 OMIM C5193109 618459 618459 07 Jun 2019 Disease IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY OMIM C5193126 618495 618495 17 Jul 2019 Disease IMMUNODEFICIENCY 64 OMIM C5231402 618534 618534 16 Aug 2019 Disease IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS OMIM C5231441 618648 618648 01 Nov 2019 Disease IMMUNODEFICIENCY 66 OMIM CN280119 618847 618847 19 Apr 2020 Disease Immunodeficiency 7, TCR-alpha/beta deficient CN260093 20 Jun 2019 Disease Immunodeficiency 8 NCBI curation C3809383 615401 16 Feb 2016 Disease Immunodeficiency due to a classical component pathway complement deficiency MONDO CN200204 MONDO:0015699 17 Apr 2020 Disease Immunodeficiency due to a complement regulatory deficiency MONDO CN242079 MONDO:0018727 17 Apr 2020 Disease Immunodeficiency due to a genetic complement cascade protein anomaly MONDO CN226604 MONDO:0015136 17 Apr 2020 Disease Immunodeficiency due to a late component of complement deficiency Orphanet CN924921 ORPHA169150 08 Apr 2018 Finding Immunodeficiency due to absence of thymus MONDO CN229125 MONDO:0018036 17 Apr 2020 Disease Immunodeficiency due to defect in cd3-epsilon NCBI curation C1861284 16 Feb 2016 Disease Immunodeficiency due to defect in CD3-gamma NCBI curation C1861297 16 Feb 2016 Disease Immunodeficiency due to defect in cd3-zeta NCBI curation C1857798 610163 16 Feb 2016 Disease Immunodeficiency due to defect in mapbp-interacting protein NCBI curation C1835829 610798 16 Feb 2016 Disease Immunodeficiency due to ficolin 3 deficiency NCBI curation C3151226 613860 16 Feb 2016 Disease Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency MONDO C1843256 MONDO:0011888 607676 17 Apr 2020 Disease Immunodeficiency predominantly affecting antibody production MONDO CN228915 MONDO:0015132 17 Apr 2020 Disease Immunodeficiency syndrome with abnormal pigmentation MONDO CN204283 MONDO:0018042 17 Apr 2020 Disease Immunodeficiency syndrome with autoimmunity MONDO CN200213 MONDO:0015709 17 Apr 2020 Disease Immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist NCBI curation C1840265 146840 16 Feb 2016 Disease Immunodeficiency with defective T-cell response to interleukin 1 NCBI curation C1855735 243110 16 Feb 2016 Disease Immunodeficiency with hyper IgM type 4 C1842413 608184 16 Feb 2016 Disease Immunodeficiency with Hyper-IgM CN239447 02 Dec 2016 Disease Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells MONDO CN229126 MONDO:0018038 17 Apr 2020 Disease Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells MONDO CN229128 MONDO:0018040 17 Apr 2020 Disease Immunodeficiency with T and B cell lymphopenia 10 Jun 2020 Disease Immunodeficiency with thymoma C0221027 16 Feb 2016 Disease Immunodeficiency without anhidrotic ectodermal dysplasia C1845117 300584 16 Feb 2016 Disease Immunodeficiency, common variable, 12 NCBI curation C4225277 616576 16 Feb 2016 Disease Immunodeficiency, common variable, 13 NCBI curation C4225173 616873 23 Sep 2018 Disease IMMUNODEFICIENCY, COMMON VARIABLE, 14 OMIM C4540380 617765 617765 15 Nov 2017 Disease IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA OMIM C4540293 617744 617744 01 Nov 2017 Disease Immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis NCBI curation C3150156 611926 16 Feb 2016 Disease Immunodeficiency, partial combined, with absence of hla determinants and beta-2-microglobulin from lymphocytes NCBI curation C1855762 242870 16 Feb 2016 Disease Immunodeficiency, Polyendocrinopathy, and Enteropathy X-Linked Syndrome CN868260 16 Mar 2018 Disease Immunodeficiency, X-linked, with deficiency of 115,000 dalton surface glycoprotein NCBI curation C1839982 308220 16 Feb 2016 Disease Immunodeficiency, X-linked, with hyper-IgM CN259046 13 Jun 2019 Disease Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia NCBI curation C3275445 300853 16 Feb 2016 Disease Immunodeficiency-associated lymphoproliferative disease MONDO CN206985 MONDO:0020083 17 Apr 2020 Disease Immunodeficiency-centromeric instability-facial anomalies syndrome 1 NCBI curation C4551557 242860 01 Feb 2020 Disease Immunodeficiency-centromeric instability-facial anomalies syndrome 2 NCBI curation C3279748 614069 16 Feb 2016 Disease Immunodeficiency-centromeric instability-facial anomalies syndrome 3 NCBI curation C4310799 616910 26 May 2016 Disease Immunodeficiency-centromeric instability-facial anomalies syndrome 4 NCBI curation C4310798 616911 13 Aug 2017 Disease Immunodeficiency-related disorder MONDO C1334159 MONDO:0024572 17 Apr 2020 Disease Immunoerythromyeloid hypoplasia NCBI curation CN074232 242880 16 Feb 2016 Disease Immunoglobulin A deficiency 2 C1836032 609529 16 Feb 2016 Disease Immunoglobulin a vasculitis MONDO CN205724 MONDO:0019167 17 Apr 2020 Disease Immunoglobulin beta deficiency MONDO C3502055 MONDO:0000583 17 Apr 2020 Disease Immunoglobulin heavy chain deficiency MONDO C0398692 MONDO:0015697 17 Apr 2020 Disease Immunoglobulin heavy chain regulator NCBI curation 16 Feb 2016 Disease Immunoglobulin IgG2 deficiency Human Phenotype Ontology C4021545 HP:0008348 16 Feb 2016 Finding Immunoglobulin kappa light chain deficiency NCBI curation C3279824 614102 16 Feb 2016 Disease IMMUNOGLOBULIN KAPPA LIGHT CHAIN POLYMORPHISM Inv1 16 Feb 2016 Disease IMMUNOGLOBULIN KAPPA LIGHT CHAIN POLYMORPHISM Inv2 16 Feb 2016 Disease IMMUNOGLOBULIN KAPPA LIGHT CHAIN POLYMORPHISM Inv3 16 Feb 2016 Disease Immunoglobulin m, level of NCBI curation C1839966 308250 16 Feb 2016 Disease Immunologic hypersensitivity Human Phenotype Ontology C0237653 HP:0100326 16 Feb 2016 Finding Immunology CN282559 17 Jun 2020 Pharmacological response Immunoproliferative disorder MONDO C0021070 MONDO:0021334 17 Apr 2020 Disease Immunoskeletal dysplasia with neurodevelopmental abnormalities NCBI curation C4479452 617425 20 Jun 2017 Disease Immunotactoid glomerulopathy MONDO C5202806 MONDO:0019991 17 Apr 2020 Disease Immunotactoid or fibrillary glomerulopathy MONDO CN227661 MONDO:0019605 17 Apr 2020 Disease Impacted cerumen Human Phenotype Ontology C0021092 HP:0030788 02 Apr 2017 Finding Impacted teeth, multiple MONDO C1839965 MONDO:0010629 308280 22 Apr 2020 Disease Impacted tooth Human Phenotype Ontology C0040456 HP:0011079 16 Feb 2016 Finding Impaction of #24 CN236309 13 Apr 2016 Finding Impaired ability to bathe oneself Human Phenotype Ontology C4476939 HP:0031059 04 Apr 2018 Finding Impaired ability to dress oneself Human Phenotype Ontology C4476940 HP:0031060 04 Apr 2018 Finding Impaired ability to form peer relationships Human Phenotype Ontology C1837649 HP:0000728 16 Feb 2016 Finding Impaired ADP-induced platelet aggregation Human Phenotype Ontology C4025282 HP:0004866 16 Feb 2016 Finding Impaired annexin V binding to platelet phosphatidylserine Human Phenotype Ontology C4476991 HP:0031132 04 Apr 2018 Finding Impaired antigen-specific response Human Phenotype Ontology C4531146 HP:0031404 04 Apr 2018 Finding Impaired arachidonic acid-induced platelet aggregation Human Phenotype Ontology C4023155 HP:0011870 16 Feb 2016 Finding Impaired binding of factor VIII to VWF Human Phenotype Ontology C4280710 HP:0040237 02 Apr 2017 Finding Impaired calcium ionophore-induced platelet aggregation Human Phenotype Ontology C4476989 HP:0031130 04 Apr 2018 Finding Impaired clot retraction Human Phenotype Ontology C4476985 HP:0031126 04 Apr 2018 Finding Impaired collagen-induced platelet aggregation Human Phenotype Ontology C4024703 HP:0008320 16 Feb 2016 Finding Impaired collagen-related peptide-induced platelet aggregation Human Phenotype Ontology C4476987 HP:0031128 04 Apr 2018 Finding Impaired continence Human Phenotype Ontology C4476943 HP:0031064 04 Apr 2018 Finding Impaired convergence Human Phenotype Ontology C0271379 HP:0000619 16 Feb 2016 Finding Impaired convulxin-induced platelet aggregation Human Phenotype Ontology C4476986 HP:0031127 04 Apr 2018 Finding Impaired cortisol response to corticotropin releasing hormone stimulation test Human Phenotype Ontology C4476957 HP:0031078 04 Apr 2018 Finding Impaired cortisol response to glucagon stimulation test Human Phenotype Ontology C4476960 HP:0031081 04 Apr 2018 Finding Impaired cortisol response to insulin stimulation test Human Phenotype Ontology C4476955 HP:0031076 04 Apr 2018 Finding Impaired cytokine signaling Human Phenotype Ontology C4531144 HP:0031407 04 Apr 2018 Finding Impaired distal proprioception Human Phenotype Ontology C4021585 HP:0006858 16 Feb 2016 Finding Impaired distal tactile sensation Human Phenotype Ontology C4021583 HP:0006937 16 Feb 2016 Finding Impaired distal vibration sensation Human Phenotype Ontology C1853767 HP:0006886 16 Feb 2016 Finding Impaired epinephrine-induced platelet aggregation Human Phenotype Ontology C4024727 HP:0008148 16 Feb 2016 Finding Impaired feeding ability Human Phenotype Ontology C4476942 HP:0031063 04 Apr 2018 Finding Impaired FSH and LH secretion 16 Feb 2016 Finding Impaired gluconeogenesis Human Phenotype Ontology C3279336 HP:0005959 16 Feb 2016 Finding Impaired growth-hormone response to glucagon stimulation test Human Phenotype Ontology C4476961 HP:0031082 04 Apr 2018 Finding Impaired growth-hormone response to insulin stimulation test Human Phenotype Ontology C4476958 HP:0031079 04 Apr 2018 Finding Impaired histidine renal tubular absorption Human Phenotype Ontology C4024642 HP:0008666 16 Feb 2016 Finding Impaired horizontal smooth pursuit Human Phenotype Ontology C1866753 HP:0001151 16 Feb 2016 Finding Impaired Ig class switch recombination Human Phenotype Ontology C1842528 HP:0002959 16 Feb 2016 Finding Impaired lymphocyte transformation with phytohemagglutinin Human Phenotype Ontology C4025625 HP:0003347 16 Feb 2016 Finding Impaired memory B-cell generation Human Phenotype Ontology C4025672 HP:0002847 16 Feb 2016 Finding impaired mobility C0518456 18 Jan 2019 Finding Impaired myocardial contractility Human Phenotype Ontology C4025009 HP:0006670 16 Feb 2016 Finding Impaired nasal mucociliary clearance Human Phenotype Ontology C4703436 HP:0031603 04 Apr 2018 Finding Impaired neutrophil bactericidal activity Human Phenotype Ontology C4023090 HP:0011993 16 Feb 2016 Finding Impaired neutrophil chemotaxis Human Phenotype Ontology C4280709 HP:0040238 02 Apr 2017 Finding Impaired neutrophil killing of staphylococci Human Phenotype Ontology C4025188 HP:0005512 16 Feb 2016 Finding Impaired ocular abduction Human Phenotype Ontology C1846462 HP:0000634 16 Feb 2016 Finding Impaired ocular adduction Human Phenotype Ontology C1846463 HP:0000542 16 Feb 2016 Finding Impaired oral bolus formation Human Phenotype Ontology C4477005 HP:0031146 04 Apr 2018 Finding Impaired oropharyngeal swallow response Human Phenotype Ontology C4477013 HP:0031162 04 Apr 2018 Finding Impaired pain sensation Human Phenotype Ontology C1837522 HP:0007328 16 Feb 2016 Finding Impaired pathogen-specific CD8 cytoxicity Human Phenotype Ontology C4531147 HP:0031403 04 Apr 2018 Finding Impaired phorbol myristate acetate-induced platelet aggregation Human Phenotype Ontology C4476988 HP:0031129 04 Apr 2018 Finding Impaired platelet adhesion Human Phenotype Ontology C4024694 HP:0008352 16 Feb 2016 Finding Impaired platelet aggregation Human Phenotype Ontology C1855853 HP:0003540 16 Feb 2016 Finding Impaired proprioception Human Phenotype Ontology C1856691 HP:0010831 16 Feb 2016 Finding Impaired pursuit initiation and maintenance Human Phenotype Ontology C1969722 HP:0007668 16 Feb 2016 Finding Impaired reabsorption of chloride Human Phenotype Ontology C1846349 HP:0005579 16 Feb 2016 Finding Impaired renal concentrating ability Human Phenotype Ontology C1859819 HP:0004727 16 Feb 2016 Finding Impaired renal function disease MONDO MONDO:0001343 17 Apr 2020 Disease Impaired renal uric acid clearance Human Phenotype Ontology C1969371 HP:0004732 16 Feb 2016 Finding Impaired ristocetin cofactor assay activity Human Phenotype Ontology C4022619 HP:0030129 16 Feb 2016 Finding Impaired ristocetin-induced platelet aggregation Human Phenotype Ontology C4023154 HP:0011871 16 Feb 2016 Finding Impaired smooth pursuit Human Phenotype Ontology C1837458 HP:0007772 16 Feb 2016 Finding Impaired social interactions Human Phenotype Ontology C0150080 HP:0000735 16 Feb 2016 Finding Impaired social reciprocity Human Phenotype Ontology C4022736 HP:0012760 16 Feb 2016 Finding impaired speech articulation 05 Sep 2019 Finding Impaired stimulus-induced skin wrinkling Human Phenotype Ontology C4022505 HP:0030331 16 Feb 2016 Finding Impaired T cell function Human Phenotype Ontology C1860127 HP:0005435 16 Feb 2016 Finding Impaired tactile sensation Human Phenotype Ontology C4021221 HP:0010830 16 Feb 2016 Finding Impaired temperature sensation Human Phenotype Ontology C4021222 HP:0010829 16 Feb 2016 Finding Impaired thermal sensitivity Human Phenotype Ontology C4024968 HP:0006901 16 Feb 2016 Finding Impaired thrombin-induced platelet aggregation Human Phenotype Ontology C4023153 HP:0011872 16 Feb 2016 Finding Impaired thromboxane A2 agonist-induced platelet aggregation Human Phenotype Ontology C4023141 HP:0011894 16 Feb 2016 Finding Impaired toileting ability Human Phenotype Ontology C4476941 HP:0031061 04 Apr 2018 Finding Impaired touch localization Human Phenotype Ontology C4021120 HP:0011811 16 Feb 2016 Finding Impaired transferring ability Human Phenotype Ontology C0812356 HP:0031062 04 Apr 2018 Finding Impaired two-point discrimination Human Phenotype Ontology C4023178 HP:0011810 16 Feb 2016 Finding Impaired urinary acidification Human Phenotype Ontology C4476921 HP:0031033 04 Apr 2018 Finding Impaired use of nonverbal behaviors Human Phenotype Ontology C4021798 HP:0000758 16 Feb 2016 Finding Impaired vibration sensation at ankles Human Phenotype Ontology C1854372 HP:0006938 16 Feb 2016 Finding Impaired vibration sensation in the lower limbs Human Phenotype Ontology C1849134 HP:0002166 16 Feb 2016 Finding Impaired vibratory sensation Human Phenotype Ontology CN002266 HP:0002495 16 Feb 2016 Finding Impaired visually enhanced vestibulo-ocular reflex Human Phenotype Ontology C4021047 HP:0030183 16 Feb 2016 Finding Impaired visuospatial constructive cognition Human Phenotype Ontology C4023701 HP:0010794 16 Feb 2016 Finding Impaired von Willibrand factor collagen binding activity Human Phenotype Ontology C4022618 HP:0030130 16 Feb 2016 Finding Impairment in personality functioning Human Phenotype Ontology C4531101 HP:0031466 04 Apr 2018 Finding Impairment of activities of daily living Human Phenotype Ontology C4476938 HP:0031058 04 Apr 2018 Finding Impairment of fructose metabolism Human Phenotype Ontology C4023581 HP:0011033 16 Feb 2016 Finding Impairment of galactose metabolism Human Phenotype Ontology C4021643 HP:0004915 16 Feb 2016 Finding Impairment of the reflex of the tensor tympanii muscle Human Phenotype Ontology C4022424 HP:0040123 16 Feb 2016 Finding Impairment of the the acoustic reflex Human Phenotype Ontology C4022425 HP:0040122 16 Feb 2016 Finding IMPDH1-Related Disorders 23 May 2019 Disease Impdh2 enzyme activity, variation in NCBI curation C3888196 617995 16 Feb 2016 Disease Imperfect vocal cord adduction Human Phenotype Ontology C4025101 HP:0005934 16 Feb 2016 Finding Imperforate anus Human Phenotype Ontology C0003466 HP:0002023 301800 10 Apr 2018 Disease Imperforate anus Human Phenotype Ontology C0003466 HP:0002023 207500 10 Apr 2018 Disease imperforate anus with fistula 24 Jun 2020 Disease Imperforate atrioventricular valve Human Phenotype Ontology C4023293 HP:0011574 16 Feb 2016 Finding Imperforate hymen Human Phenotype Ontology C0152436 HP:0030011 237100 16 Feb 2016 Disease Imperforate oropharynx costo vetebral anomalies 16 Feb 2016 Disease Imperforate oropharynx-costo vetebral anomalies syndrome MONDO C4749770 MONDO:0017162 17 Apr 2020 Disease Imperforate tricuspid valve Human Phenotype Ontology C4023292 HP:0011575 16 Feb 2016 Finding imperforated anus 24 Jun 2020 Disease Impetigo MONDO C0021099 MONDO:0004592 04 Jun 2020 Infectious disease Impetigo herpetiformis MONDO C1314968 MONDO:0004591 04 Jun 2020 Infectious disease implantation of low hair 22 Aug 2019 Finding Impotence Human Phenotype Ontology C1961100 HP:0000802 16 Feb 2016 Finding Impression of hypotelorism 23 Jan 2020 Finding Imprinting gene related to retinoblastoma NCBI curation C1839964 308290 16 Feb 2016 Disease Impulse control disorder MONDO C0021122 MONDO:0001162 17 Apr 2020 Disease impulsiveness 05 Sep 2019 Finding Impulsivity Human Phenotype Ontology C0021125 HP:0100710 16 Feb 2016 Finding In situ carcinoma MONDO C0007099 MONDO:0004647 17 Apr 2020 Disease in utero drug exposure 05 Sep 2019 Finding Inability to walk Human Phenotype Ontology C0560046 HP:0002540 16 Feb 2016 Finding Inability to walk by childhood/adolescence Human Phenotype Ontology C1859200 HP:0006915 16 Feb 2016 Finding Inactivating thyroid-stimulating hormone receptor defect Human Phenotype Ontology C4023187 HP:0011791 02 Apr 2017 Finding Inactive tuberculosis MONDO C1609538 MONDO:0040753 17 Apr 2020 Infectious disease inadequate social skills C1400446 18 Jan 2019 Finding Inappropriate antidiuretic hormone secretion Human Phenotype Ontology C0021141 HP:0031218 04 Apr 2018 Finding Inappropriate behavior Human Phenotype Ontology C0233522 HP:0000719 16 Feb 2016 Finding Inappropriate crying Human Phenotype Ontology C0860609 HP:0030215 16 Feb 2016 Finding Inappropriate laughter Human Phenotype Ontology C0424304 HP:0000748 16 Feb 2016 Finding Inappropriate sexual behavior Human Phenotype Ontology C0474420 HP:0008768 16 Feb 2016 Finding Inappropriate sinus tachycardia Human Phenotype Ontology C1881170 HP:0040182 16 Feb 2016 Finding Inattention C0424101 18 Jan 2019 Finding Inborn aminoacylase deficiency MONDO CN263331 MONDO:0017686 17 Apr 2020 Disease Inborn branched chain aminoaciduria 16 Feb 2016 Disease Inborn disorder of amino acid absorption and transport MONDO C0268641 MONDO:0019216 17 Apr 2020 Disease Inborn disorder of amino acid and other organic acid metabolism MONDO C0342666 MONDO:0019189 10 May 2020 Disease Inborn disorder of aspartate family metabolism MONDO MONDO:0037938 17 Apr 2020 Disease Inborn disorder of bilirubin metabolism MONDO C0349427 MONDO:0017755 17 Apr 2020 Disease Inborn disorder of biogenic amine metabolism and transport MONDO CN227606 MONDO:0019250 17 Apr 2020 Disease Inborn disorder of branched-chain amino acid metabolism MONDO C0342712 MONDO:0019242 17 Apr 2020 Disease Inborn disorder of cobalamin metabolism and transport MONDO CN227587 MONDO:0019220 17 Apr 2020 Disease Inborn disorder of energy metabolism MONDO CN227604 MONDO:0019243 17 Apr 2020 Disease Inborn disorder of fatty acid oxidation and ketone body metabolism MONDO CN227590 MONDO:0019223 17 Apr 2020 Disease Inborn disorder of gamma-aminobutyric acid metabolism MONDO CN227591 MONDO:0019224 17 Apr 2020 Disease Inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation MONDO CN227194 MONDO:0017748 17 Apr 2020 Disease Inborn disorder of ketolysis MONDO CN227594 MONDO:0019229 17 Apr 2020 Disease Inborn disorder of lysine and hydroxylysine metabolism MONDO C0268552 MONDO:0017351 17 Apr 2020 Disease Inborn disorder of lysosomal amino acid transport MONDO CN227605 MONDO:0019246 17 Apr 2020 Disease Inborn disorder of methionine cycle and sulfur amino acid metabolism MONDO CN227589 MONDO:0019222 17 Apr 2020 Disease Inborn disorder of neurotransmitter metabolism and transport MONDO CN227586 MONDO:0019219 17 Apr 2020 Disease Inborn disorder of ornithine metabolism MONDO C0342690 MONDO:0017356 17 Apr 2020 Disease Inborn disorder of ornithine or proline metabolism MONDO CN227595 MONDO:0019230 17 Apr 2020 Disease Inborn disorder of pentose phosphate metabolism MONDO CN227596 MONDO:0019231 17 Apr 2020 Disease Inborn disorder of peptide metabolism MONDO CN227597 MONDO:0019232 17 Apr 2020 Disease Inborn disorder of phenylalanin or tyrosine metabolism MONDO CN227599 MONDO:0019235 17 Apr 2020 Disease Inborn disorder of proline metabolism MONDO CN227118 MONDO:0017355 17 Apr 2020 Disease Inborn disorder of purine or pyrimidine metabolism MONDO C0034139 MONDO:0019254 17 Apr 2020 Disease Inborn disorder of pyridoxine metabolism MONDO CN227600 MONDO:0019237 17 Apr 2020 Disease Inborn disorder of serine family metabolism MONDO CN227601 MONDO:0019239 17 Apr 2020 Disease Inborn disorder of the gamma-glutamyl cycle MONDO C0268517 MONDO:0019241 17 Apr 2020 Disease Inborn disorder of tryptophan metabolism MONDO C0041254 MONDO:0017350 17 Apr 2020 Disease Inborn disorder of urea cycle metabolism and ammonia detoxification MONDO CN227584 MONDO:0019217 17 Apr 2020 Disease Inborn error of biotin metabolism MONDO MONDO:0020698 17 Apr 2020 Disease Inborn Errors of Bile Acid Synthesis CN544763 19 Oct 2017 Disease Inborn errors of metabolism MONDO C0025521 MONDO:0019052 17 Apr 2020 Disease Inborn genetic diseases NCBI curation C0950123 16 Feb 2016 Disease Inborn metal metabolism disorder MONDO C0025534 MONDO:0004689 17 Apr 2020 Disease Inborn renal aminoaciduria 16 Feb 2016 Disease Inborn serine deficiency MONDO MONDO:0000421 17 Apr 2020 Disease Inborn vitamin B12 deficiency (disease) MONDO MONDO:0000424 17 Apr 2020 Disease Inborn vitamin metabolic disorder MONDO MONDO:0005528 17 Apr 2020 Disease Incessant infant ventricular tachycardia MONDO C0340487 MONDO:0018685 17 Apr 2020 Disease Incidental Discovery C1135954 23 Mar 2016 Finding Incisional hernia Human Phenotype Ontology C0267716 HP:0004872 16 Feb 2016 Finding Incisor macrodontia Human Phenotype Ontology C4023544 HP:0011081 16 Feb 2016 Finding Incisors, long upper central NCBI curation C1840227 147300 16 Feb 2016 Disease Incisors, lower central, absence of NCBI curation C1840225 147330 16 Feb 2016 Disease Incisors, rotation of upper central NCBI curation C1840224 147350 16 Feb 2016 Disease Incisors, shovel-shaped NCBI curation C1409763 147400 16 Feb 2016 Disease Inclined #43 CN236310 13 Apr 2016 Finding Inclusion body fibromatosis Human Phenotype Ontology C1318562 HP:0025197 02 Apr 2017 Finding Inclusion body fibromatosis (disease) MONDO MONDO:0006251 17 Apr 2020 Disease Inclusion body myopathy C1833672 28 Feb 2020 Disease Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia NCBI curation C1833662 18 Jan 2020 Disease Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 CN259044 13 Jun 2019 Disease Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 NCBI curation C4551951 167320 18 Jan 2020 Disease Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 NCBI curation C3809468 615422 18 Jan 2020 Disease Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 NCBI curation C3809469 615424 16 Feb 2016 Disease Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3 CN259045 13 Jun 2019 Disease Inclusion Body Myopathy, Dominant CN239244 02 Dec 2016 Disease Inclusion Body Myopathy, Recessive CN239230 02 Dec 2016 Disease Inclusion body myositis C0238190 147421 16 Feb 2016 Disease Inclusion conjunctivitis CN281845 16 Feb 2016 Infectious disease Inclusion myopathy MONDO CN229021 MONDO:0016112 17 Apr 2020 Disease Incomitant strabismus Human Phenotype Ontology C4476577 HP:0025068 02 Apr 2017 Finding Incomplete achromatopsia CN233203 16 Feb 2016 Finding Incomplete breech presentation Human Phenotype Ontology C0426146 HP:0010861 16 Feb 2016 Finding Incomplete cleft of the upper lip Human Phenotype Ontology C4021158 HP:0011340 16 Feb 2016 Finding Incomplete congenital stationary night blindness Human Phenotype Ontology C4073107 HP:0030641 16 Feb 2016 Finding Incomplete male pseudohermaphroditism Human Phenotype Ontology C4024645 HP:0008656 16 Feb 2016 Finding Incomplete ossification of palatine bone Human Phenotype Ontology C0685213 HP:0430012 16 Feb 2016 Finding Incomplete ossification of pubis Human Phenotype Ontology C0685678 HP:0030042 16 Feb 2016 Finding Incomplete partition of the cochlea Human Phenotype Ontology C4023392 HP:0011373 16 Feb 2016 Finding Incomplete partition of the cochlea type I Human Phenotype Ontology C4023391 HP:0011374 16 Feb 2016 Finding Incomplete partition of the cochlea type II Human Phenotype Ontology C4025857 HP:0000376 16 Feb 2016 Finding Incomplete sertoli cell-only syndrome NCBI curation 16 Feb 2016 Disease Incomprehensible speech Human Phenotype Ontology C1838027 HP:0002546 16 Feb 2016 Finding Incontinence C0021167 18 Jan 2019 Finding incontinenta pigmenti 05 Sep 2019 Finding Incontinentia pigmenti syndrome C0021171 308300 16 Feb 2016 Disease Incoordination Human Phenotype Ontology C0520966 HP:0002311 16 Feb 2016 Finding Increase in B cell number Human Phenotype Ontology C1858972 HP:0005404 16 Feb 2016 Finding Increase in T cell count Human Phenotype Ontology C4021960 HP:0100828 02 Apr 2017 Finding Increased activity of mitochondrial respiratory chain Human Phenotype Ontology C4022491 HP:0040015 16 Feb 2016 Finding Increased adiponectin level Human Phenotype Ontology C4073128 HP:0030686 02 Apr 2017 Finding Increased adipose tissue Human Phenotype Ontology C4024583 HP:0009126 16 Feb 2016 Finding Increased adipose tissue around the neck Human Phenotype Ontology C4025850 HP:0000468 16 Feb 2016 Finding Increased alpha-globulin Human Phenotype Ontology C1167806 HP:0005413 16 Feb 2016 Finding Increased analgesia from kappa-opioid receptor agonist, female-specific NCBI curation C2751296 613098 16 Feb 2016 Disease Increased annexin V binding to platelet phosphatidylserine Human Phenotype Ontology C4476992 HP:0031133 04 Apr 2018 Finding Increased anterioposterior diameter of thorax Human Phenotype Ontology C1848760 HP:0005253 16 Feb 2016 Finding Increased anterior vertebral height Human Phenotype Ontology C1866732 HP:0004581 16 Feb 2016 Finding Increased antibody level in blood Human Phenotype Ontology C0151669 HP:0010702 16 Feb 2016 Finding Increased antimullerian hormone level Human Phenotype Ontology C4476971 HP:0031102 04 Apr 2018 Finding Increased Arden ratio of electrooculogram Human Phenotype Ontology C4477008 HP:0031155 04 Apr 2018 Finding Increased arm span Human Phenotype Ontology C4022729 HP:0012771 16 Feb 2016 Finding Increased axial globe length Human Phenotype Ontology C1835117 HP:0007800 16 Feb 2016 Finding Increased blood urea nitrogen Human Phenotype Ontology C0151539 HP:0003138 02 Apr 2017 Finding Increased body fat percentage Human Phenotype Ontology C4476824 HP:0025521 04 Apr 2018 Finding Increased body mass index Human Phenotype Ontology C0231254 HP:0031418 04 Apr 2018 Finding Increased body weight Human Phenotype Ontology C0043094 HP:0004324 16 Feb 2016 Finding Increased bone density with cystic changes Human Phenotype Ontology C4025151 HP:0005700 16 Feb 2016 Finding Increased bone mineral density Human Phenotype Ontology C0029464 HP:0011001 16 Feb 2016 Finding Increased C-peptide level Human Phenotype Ontology C4280763 HP:0030796 02 Apr 2017 Finding Increased carotid artery intimal medial thickness Human Phenotype Ontology C4022977 HP:0012273 16 Feb 2016 Finding Increased carrying angle Human Phenotype Ontology C1855478 HP:0003102 16 Feb 2016 Finding Increased caudate lactate level Human Phenotype Ontology C4022806 HP:0012644 16 Feb 2016 Finding Increased CD25+ mast cell proportion Human Phenotype Ontology C4531143 HP:0031408 04 Apr 2018 Finding Increased cellular sensitivity to UV light Human Phenotype Ontology C1857707 HP:0003224 16 Feb 2016 Finding Increased cerebral lipofuscin Human Phenotype Ontology C4023177 HP:0011813 16 Feb 2016 Finding increased chitotriosidase level CN240358 27 Jan 2017 Finding Increased circulating ACTH level Human Phenotype Ontology C4021740 HP:0003154 16 Feb 2016 Finding Increased circulating androgen level Human Phenotype Ontology C4072893 HP:0030348 16 Feb 2016 Finding Increased circulating beta-2-microglobulin level Human Phenotype Ontology C4476716 HP:0025346 02 Apr 2017 Finding Increased circulating beta-C-terminal telopeptide level Human Phenotype Ontology C4531129 HP:0031425 04 Apr 2018 Finding Increased circulating chylomicron levels Human Phenotype Ontology C1535978 HP:0012238 04 Apr 2018 Finding Increased circulating cortisol level Human Phenotype Ontology C4025651 HP:0003118 16 Feb 2016 Finding Increased circulating free fatty acid level Human Phenotype Ontology C4280773 HP:0030781 02 Apr 2017 Finding Increased circulating gonadotropin level Human Phenotype Ontology C1862265 HP:0000837 16 Feb 2016 Finding Increased circulating low-density lipoprotein levels Human Phenotype Ontology C0549399 HP:0003141 04 Apr 2018 Finding Increased circulating osteocalcin level Human Phenotype Ontology C4531126 HP:0031428 04 Apr 2018 Finding Increased circulating progesterone Human Phenotype Ontology C4531270 HP:0031216 04 Apr 2018 Finding Increased circulating renin level Human Phenotype Ontology C0240783 HP:0000848 16 Feb 2016 Finding Increased circulating thyroglobulin level Human Phenotype Ontology C4476805 HP:0025484 04 Apr 2018 Finding Increased circulating thyroxine level Human Phenotype Ontology C4531079 HP:0031506 04 Apr 2018 Finding Increased circulating thyroxine-binding globulin level Human Phenotype Ontology C4531267 HP:0031222 04 Apr 2018 Finding Increased circulating very-low-density lipoprotein levels Human Phenotype Ontology C4021729 HP:0003362 04 Apr 2018 Finding Increased class-switched memory B cell count Human Phenotype Ontology C4073288 HP:0030387 16 Feb 2016 Finding Increased connective tissue Human Phenotype Ontology C1866021 HP:0009025 16 Feb 2016 Finding Increased corneal curvature Human Phenotype Ontology C4020956 HP:0100692 16 Feb 2016 Finding Increased corneal thickness Human Phenotype Ontology C3810451 HP:0011487 16 Feb 2016 Finding Increased CSF interferon alpha Human Phenotype Ontology C1856983 HP:0009709 16 Feb 2016 Finding Increased CSF lactate Human Phenotype Ontology C1167918 HP:0002490 16 Feb 2016 Finding Increased CSF protein Human Phenotype Ontology C1806780 HP:0002922 16 Feb 2016 Finding Increased CSF/serum albumin ratio Human Phenotype Ontology C4476791 HP:0025459 04 Apr 2018 Finding Increased cup-to-disc ratio Human Phenotype Ontology C3805911 HP:0012796 16 Feb 2016 Finding Increased density of left ventricular trabeculae Human Phenotype Ontology C4531286 HP:0031194 04 Apr 2018 Finding Increased density of long bone diaphyses Human Phenotype Ontology C1844516 HP:0006440 16 Feb 2016 Finding Increased density of long bones Human Phenotype Ontology C1849307 HP:0006392 16 Feb 2016 Finding Increased dermatoglyphic whorls Human Phenotype Ontology C4025120 HP:0005875 16 Feb 2016 Finding Increased DLCO Human Phenotype Ontology C4073174 HP:0045050 16 Feb 2016 Finding Increased endomysial connective tissue Human Phenotype Ontology C4022161 HP:0100297 16 Feb 2016 Finding Increased erythrocyte glycogen levels 01 Nov 2018 Finding Increased erythrocyte protoporphyrin concentration Human Phenotype Ontology C4023007 HP:0012187 16 Feb 2016 Finding Increased extra axial cerebrospinal fluid CN235246 19 Feb 2016 Finding Increased extraneuronal autofluorescent lipopigment Human Phenotype Ontology C1859828 HP:0003463 16 Feb 2016 Finding Increased facial adipose tissue Human Phenotype Ontology C4025868 HP:0000287 16 Feb 2016 Finding Increased factor VIII activity Human Phenotype Ontology C4476890 HP:0030977 04 Apr 2018 Finding Increased female libido Human Phenotype Ontology C4022675 HP:0030019 16 Feb 2016 Finding Increased femoral torsion Human Phenotype Ontology C4476947 HP:0031068 04 Apr 2018 Finding Increased fetal movement Human Phenotype Ontology C4021256 HP:0010519 16 Feb 2016 Finding Increased fibular diameter Human Phenotype Ontology C4021100 HP:0012107 16 Feb 2016 Finding Increased fucosylation of N-linked protein glycosylation Human Phenotype Ontology C4022937 HP:0012354 16 Feb 2016 Finding Increased fucosylation of O-linked protein glycosylation Human Phenotype Ontology C4022930 HP:0012361 16 Feb 2016 Finding Increased glomerular filtration rate Human Phenotype Ontology C0856948 HP:0012214 16 Feb 2016 Finding Increased glucagon level Human Phenotype Ontology C1295677 HP:0030688 02 Apr 2017 Finding Increased groin pigmentation with raindrop depigmentation Human Phenotype Ontology C4024875 HP:0007450 16 Feb 2016 Finding Increased HbA2 hemoglobin Human Phenotype Ontology C4073172 HP:0045048 16 Feb 2016 Finding Increased head circumference Human Phenotype Ontology C4083076 HP:0040194 16 Feb 2016 Finding Increased hematocrit Human Phenotype Ontology C0239935 HP:0001899 16 Feb 2016 Finding Increased hemoglobin Human Phenotype Ontology C0549448 HP:0001900 16 Feb 2016 Finding Increased hemoglobin oxygen affinity Human Phenotype Ontology C4021647 HP:0004825 16 Feb 2016 Finding Increased hepatic echogenicity Human Phenotype Ontology C4477000 HP:0031141 04 Apr 2018 Finding Increased hepatic glycogen content Human Phenotype Ontology C1856285 HP:0006568 16 Feb 2016 Finding Increased hepatocellular lipid droplets Human Phenotype Ontology C4025021 HP:0006565 16 Feb 2016 Finding Increased histidine NCBI curation C1291163 13 May 2016 Finding Increased IgA level Human Phenotype Ontology C0239984 HP:0003261 16 Feb 2016 Finding Increased IgE level Human Phenotype Ontology C1839165 HP:0003212 16 Feb 2016 Finding Increased IgG level Human Phenotype Ontology C1858977 HP:0003237 16 Feb 2016 Finding Increased IgM level Human Phenotype Ontology C1839972 HP:0003496 16 Feb 2016 Finding Increased immature B cell count Human Phenotype Ontology C4072916 HP:0030377 16 Feb 2016 Finding Increased incisura length Human Phenotype Ontology C4531262 HP:0031229 04 Apr 2018 Finding Increased incisura width Human Phenotype Ontology C4531259 HP:0031232 04 Apr 2018 Finding Increased inflammatory response Human Phenotype Ontology C4022803 HP:0012649 16 Feb 2016 Finding Increased intervertebral space Human Phenotype Ontology C4022513 HP:0030320 16 Feb 2016 Finding Increased intestinal transit time 19 Jul 2019 Finding Increased intraabdominal fat Human Phenotype Ontology C1835390 HP:0008993 16 Feb 2016 Finding Increased intracellular sodium Human Phenotype Ontology C4025593 HP:0003575 16 Feb 2016 Finding Increased intracranial pressure Human Phenotype Ontology C0151740 HP:0002516 16 Feb 2016 Finding Increased intramuscular fat Human Phenotype Ontology C1835389 HP:0008985 16 Feb 2016 Finding Increased intramyocellular lipid droplets Human Phenotype Ontology C4020730 HP:0012240 16 Feb 2016 Finding Increased intraocular pressure Human Phenotype Ontology C0234708 HP:0007906 16 Feb 2016 Finding Increased jitter at single fibre EMG Human Phenotype Ontology C4021045 HP:0030205 16 Feb 2016 Finding Increased lacrimation Human Phenotype Ontology C0152227 HP:0009926 16 Feb 2016 Finding Increased lactate dehydrogenase activity Human Phenotype Ontology C4477095 HP:0025435 04 Apr 2018 Finding Increased laxity of ankles Human Phenotype Ontology C1850854 HP:0006460 16 Feb 2016 Finding Increased laxity of fingers Human Phenotype Ontology C1850855 HP:0006149 16 Feb 2016 Finding Increased left ventricular wall thickness CN221599 16 Feb 2016 Disease Increased length of the tibia Human Phenotype Ontology C4021864 HP:0010504 16 Feb 2016 Finding Increased level of platelet-activating factor Human Phenotype Ontology C4073143 HP:0040178 16 Feb 2016 Finding Increased LH response to gonadotropin-releasing hormone stimulation test Human Phenotype Ontology C4531229 HP:0031280 04 Apr 2018 Finding Increased lymphocyte apoptosis Human Phenotype Ontology C4280724 HP:0030887 02 Apr 2017 Finding Increased male libido Human Phenotype Ontology C4477041 HP:0040305 04 Apr 2018 Finding Increased mannosylation of N-linked protein glycosylation Human Phenotype Ontology C4022934 HP:0012357 16 Feb 2016 Finding Increased marginal zone B cell count Human Phenotype Ontology C4072923 HP:0030385 16 Feb 2016 Finding Increased mean corpuscular hemoglobin Human Phenotype Ontology C0427444 HP:0025548 04 Apr 2018 Finding Increased mean corpuscular volume Human Phenotype Ontology C0302845 HP:0005518 02 Apr 2017 Finding Increased mean platelet volume Human Phenotype Ontology C1096367 HP:0011877 16 Feb 2016 Finding Increased megakaryocyte count Human Phenotype Ontology C4025187 HP:0005513 16 Feb 2016 Finding Increased memory B cell count Human Phenotype Ontology C4072914 HP:0030375 16 Feb 2016 Finding Increased micromegakaryocyte count Human Phenotype Ontology C4531161 HP:0031386 04 Apr 2018 Finding Increased mitochondrial number Human Phenotype Ontology C4022492 HP:0040014 16 Feb 2016 Finding Increased multinucleated megakaryocyte count Human Phenotype Ontology C4531160 HP:0031387 04 Apr 2018 Finding Increased muscle fatiguability Human Phenotype Ontology C4025573 HP:0003750 16 Feb 2016 Finding Increased muscle glycogen content Human Phenotype Ontology C1968729 HP:0009051 16 Feb 2016 Finding Increased muscle lipid content Human Phenotype Ontology C1837262 HP:0009058 16 Feb 2016 Finding Increased naive B cell count Human Phenotype Ontology C4072910 HP:0030371 16 Feb 2016 Finding Increased neuronal autofluorescent lipopigment Human Phenotype Ontology C4025728 HP:0002074 16 Feb 2016 Finding Increased neutrophil nuclear projections Human Phenotype Ontology C4022851 HP:0012552 16 Feb 2016 Finding Increased NT-proBNP level Human Phenotype Ontology C4477024 HP:0031185 04 Apr 2018 Finding Increased nuchal translucency Human Phenotype Ontology C4023676 HP:0010880 16 Feb 2016 Finding Increased nuchal translucency; advanced maternal age gravida 16 Feb 2016 Finding Increased number of elastic fibers in the dermis Human Phenotype Ontology C4476629 HP:0025164 02 Apr 2017 Finding Increased number of peripheral CD3+ T cells C1858971 16 Feb 2016 Finding Increased number of skin folds Human Phenotype Ontology C4024853 HP:0007522 16 Feb 2016 Finding Increased OCT-measured foveal thickness Human Phenotype Ontology C4073088 HP:0030618 16 Feb 2016 Finding Increased OCT-measured macular thickness Human Phenotype Ontology C4073078 HP:0030608 16 Feb 2016 Finding Increased peripheral myelin thickness Human Phenotype Ontology C4022599 HP:0030174 16 Feb 2016 Finding Increased phosphoribosylpyrophosphate synthetase Human Phenotype Ontology C4025637 HP:0003240 02 Apr 2017 Finding Increased pineal volume Human Phenotype Ontology C4022779 HP:0012686 16 Feb 2016 Finding Increased pitch variability of speech Human Phenotype Ontology C4531120 HP:0031436 04 Apr 2018 Finding Increased pituitary glycoprotein alpha subunit level Human Phenotype Ontology C4531278 HP:0031208 04 Apr 2018 Finding Increased PIVKA-II Human Phenotype Ontology C1112467 HP:0045063 02 Apr 2017 Finding Increased plasma vitamin K epoxide after vitamin K supplementation Human Phenotype Ontology C4280708 HP:0040239 02 Apr 2017 Finding Increased prevalence of valvular disease C1868151 16 Feb 2016 Finding Increased proportion of exhausted T cells Human Phenotype Ontology C4531071 HP:0031514 04 Apr 2018 Finding Increased proportion of HLA DR+ and CD57+ T cells Human Phenotype Ontology C4703376 HP:0002853 16 Feb 2016 Finding Increased pulmonary capillary wedge pressure Human Phenotype Ontology C0520850 HP:0030876 02 Apr 2017 Finding Increased pulmonary vascular resistance Human Phenotype Ontology C1867423 HP:0005317 16 Feb 2016 Finding Increased purine levels Human Phenotype Ontology C4025332 HP:0004368 16 Feb 2016 Finding Increased QRS voltage Human Phenotype Ontology C1112650 HP:0025075 02 Apr 2017 Finding Increased radioactive iodine uptake Human Phenotype Ontology C0151742 HP:0031220 04 Apr 2018 Finding Increased rate of premature chromosome condensation Human Phenotype Ontology C4025613 HP:0003451 16 Feb 2016 Finding Increased ratio of VWF propeptide to VWF antigen Human Phenotype Ontology C4280707 HP:0040240 02 Apr 2017 Finding Increased reactive oxygen species production Human Phenotype Ontology C4476796 HP:0025464 04 Apr 2018 Finding Increased red blood cell mass Human Phenotype Ontology C1853288 HP:0001898 16 Feb 2016 Finding Increased red cell hemolysis by shear stress Human Phenotype Ontology C3806125 HP:0008269 16 Feb 2016 Finding Increased red cell osmotic fragility Human Phenotype Ontology C1849478 HP:0005502 16 Feb 2016 Finding Increased red cell osmotic resistance Human Phenotype Ontology C1858628 HP:0005546 16 Feb 2016 Finding Increased red cell sickling tendency Human Phenotype Ontology C4024695 HP:0008346 16 Feb 2016 Finding Increased renal echogenicity 20 Jun 2019 Finding increased renal echogenicity on ultrasound 19 Jul 2018 Finding Increased renal tubular phosphate reabsorption Human Phenotype Ontology C1968910 HP:0005571 16 Feb 2016 Finding Increased responsiveness to growth hormone NCBI curation C3888131 16 Feb 2016 Disease Increased resting energy expenditure Human Phenotype Ontology C4022948 HP:0012339 16 Feb 2016 Finding Increased retinal vascularity Human Phenotype Ontology C1847882 HP:0007986 16 Feb 2016 Finding Increased RIPA Human Phenotype Ontology C4280706 HP:0040241 02 Apr 2017 Finding Increased sarcoplasmic glycogen Human Phenotype Ontology C4022566 HP:0030232 16 Feb 2016 Finding Increased scrotal rugation Human Phenotype Ontology C4022706 HP:0012857 16 Feb 2016 Finding Increased sensitivity to ionizing radiation Human Phenotype Ontology C4021850 HP:0011133 16 Feb 2016 Finding Increased serum 1,25-dihydroxyvitamin D3 Human Phenotype Ontology C1833331 HP:0003152 16 Feb 2016 Finding Increased serum androstenedione Human Phenotype Ontology C0240995 HP:0025380 04 Apr 2018 Finding Increased serum beta-hexosaminidase Human Phenotype Ontology C2673361 HP:0003333 16 Feb 2016 Finding Increased serum bile acid concentration Human Phenotype Ontology C4023004 HP:0012202 16 Feb 2016 Finding Increased serum bile acid concentration during pregnancy Human Phenotype Ontology C4021882 HP:0200150 16 Feb 2016 Finding Increased serum estradiol Human Phenotype Ontology C1295643 HP:0025134 02 Apr 2017 Finding Increased serum estriol Human Phenotype Ontology C4476607 HP:0025136 02 Apr 2017 Finding Increased serum estrone Human Phenotype Ontology C4476610 HP:0025139 02 Apr 2017 Finding Increased serum ferritin Human Phenotype Ontology C0241013 HP:0003281 16 Feb 2016 Finding Increased serum free triiodothyronine Human Phenotype Ontology C4021843 HP:0011788 02 Apr 2017 Finding Increased serum iduronate sulfatase activity Human Phenotype Ontology C4025599 HP:0003538 16 Feb 2016 Finding Increased serum insulin-like growth factor 1 Human Phenotype Ontology C2676198 HP:0030269 16 Feb 2016 Finding Increased serum interferon-gamma level Human Phenotype Ontology C4072900 HP:0030356 16 Feb 2016 Finding Increased serum interleukin-6 Human Phenotype Ontology C4280771 HP:0030783 02 Apr 2017 Finding Increased serum iron Human Phenotype Ontology C0151900 HP:0003452 16 Feb 2016 Finding Increased serum lactate Human Phenotype Ontology C1836440 HP:0002151 16 Feb 2016 Finding Increased serum prostaglandin E2 Human Phenotype Ontology C3150358 HP:0003566 16 Feb 2016 Finding Increased serum pyruvate Human Phenotype Ontology C1849488 HP:0003542 16 Feb 2016 Finding Increased serum serotonin Human Phenotype Ontology C0877243 HP:0003144 16 Feb 2016 Finding Increased serum testosterone level Human Phenotype Ontology C4072885 HP:0030088 16 Feb 2016 Finding Increased serum zinc Human Phenotype Ontology C0856208 HP:0011424 16 Feb 2016 Finding Increased sialylation of N-linked protein glycosylation Human Phenotype Ontology C4022940 HP:0012351 16 Feb 2016 Finding Increased signal in left periventricular white matter, subtle 23 Jan 2020 Finding Increased size of nasopharyngeal adenoids Human Phenotype Ontology C0455938 HP:0040261 02 Apr 2017 Finding Increased size of the clitoris Human Phenotype Ontology C4280695 HP:0040253 02 Apr 2017 Finding Increased size of the mandible Human Phenotype Ontology C4280644 HP:0040309 04 Apr 2018 Finding Increased skull ossification Human Phenotype Ontology C0020496 HP:0004330 16 Feb 2016 Finding Increased spinal bone density Human Phenotype Ontology C4020828 HP:0004563 16 Feb 2016 Finding Increased subcutaneous truncal adipose tissue Human Phenotype Ontology C1837781 HP:0009003 16 Feb 2016 Finding Increased susceptibility to fractures Human Phenotype Ontology C1390474 HP:0002659 16 Feb 2016 Finding Increased susceptibility to spontaneous sister chromatid exchange Human Phenotype Ontology C4023604 HP:0010998 16 Feb 2016 Finding Increased T3/T4 ratio Human Phenotype Ontology C4022846 HP:0012559 16 Feb 2016 Finding Increased theta frequency activity in EEG Human Phenotype Ontology C4531060 HP:0031535 04 Apr 2018 Finding Increased thyroid-stimulating hormone level Human Phenotype Ontology C0586553 HP:0002925 04 Apr 2018 Finding Increased total bilirubin Human Phenotype Ontology C0741494 HP:0003573 16 Feb 2016 Finding Increased total iron binding capacity Human Phenotype Ontology C0854060 HP:0025196 02 Apr 2017 Finding Increased transitional B cell count Human Phenotype Ontology C4072920 HP:0030381 16 Feb 2016 Finding Increased troponin I level in blood 10 Jan 2020 Finding Increased upper to lower segment ratio Human Phenotype Ontology C1844571 HP:0012774 16 Feb 2016 Finding Increased urinary copper concentration Human Phenotype Ontology C4023688 HP:0010839 16 Feb 2016 Finding Increased urinary cortisol level Human Phenotype Ontology C4023068 HP:0012030 16 Feb 2016 Finding Increased urinary disaccharide excretion Human Phenotype Ontology C4023062 HP:0012066 16 Feb 2016 Finding Increased urinary glycerol Human Phenotype Ontology C2673558 HP:0040301 04 Apr 2018 Finding Increased urinary hypoxanthine Human Phenotype Ontology C3810487 HP:0011814 16 Feb 2016 Finding Increased urinary O-linked sialopeptides Human Phenotype Ontology C1836533 HP:0003461 16 Feb 2016 Finding Increased urinary porphobilinogen Human Phenotype Ontology C4023000 HP:0012217 16 Feb 2016 Finding Increased urinary potassium Human Phenotype Ontology C1846351 HP:0003081 16 Feb 2016 Finding Increased urinary sedoheptulose Human Phenotype Ontology C4313432 HP:0025157 02 Apr 2017 Finding Increased urinary sulfate Human Phenotype Ontology C4022820 HP:0012613 16 Feb 2016 Finding Increased urinary sulfite Human Phenotype Ontology C1848957 HP:0011942 16 Feb 2016 Finding Increased urinary taurine Human Phenotype Ontology C3806447 HP:0003166 16 Feb 2016 Finding Increased urinary thiosulfate Human Phenotype Ontology C3148695 HP:0011943 16 Feb 2016 Finding Increased urinary urate Human Phenotype Ontology C0878672 HP:0012611 16 Feb 2016 Finding Increased urine alpha-ketoglutarate concentration Human Phenotype Ontology C4022915 HP:0012402 16 Feb 2016 Finding Increased urine sulfatides with normal arylsulfatase A activity 28 Sep 2018 Finding Increased variability in muscle fiber diameter Human Phenotype Ontology C1843700 HP:0003557 16 Feb 2016 Finding Increased vertebral height Human Phenotype Ontology C1864853 HP:0004570 16 Feb 2016 Finding Indeterminate colitis MONDO C0341332 MONDO:0006038 17 Apr 2020 Disease Indeterminate dendritic cell tumor MONDO C2825741 MONDO:0015538 17 Apr 2020 Disease Indeterminate leprosy MONDO C0021192 MONDO:0001391 04 Jun 2020 Infectious disease Indeterminate prenatal cell-free DNA screen results 26 Jul 2019 Finding Indeterminate sex and/or pseudohermaphroditism MONDO MONDO:0024665 17 Apr 2020 Disease Index finger dermatoglyphic radial loop Human Phenotype Ontology C4024845 HP:0007566 16 Feb 2016 Finding INDIAN BLOOD GROUP SYSTEM OMIM C1292298 609027 609027 16 Feb 2016 Blood group INDIAN BLOOD GROUP SYSTEM POLYMORPHISM 16 Feb 2016 Blood group Indian childhood cirrhosis NCBI curation 16 Feb 2016 Disease Indian plum allergy MONDO MONDO:0000782 17 Apr 2020 Disease Indian prawn allergy MONDO MONDO:0000802 17 Apr 2020 Disease Indian tick typhus MONDO CN281907 MONDO:0000229 04 Jun 2020 Infectious disease Indifference to pain, congenital, autosomal dominant NCBI curation C4538468 147430 16 Feb 2016 Disease Indifference to pain, congenital, autosomal recessive NCBI curation C1855739 243000 16 Feb 2016 Disease Indolent B cell lymphoma 16 Feb 2016 Disease Indolent B-cell non-Hodgkin lymphoma MONDO CN227151 MONDO:0017594 17 Apr 2020 Disease Indolent plasma cell myeloma MONDO C2049069 MONDO:0004819 17 Apr 2020 Disease Indolent primary cutaneous B-cell lymphoma MONDO CN228987 MONDO:0015819 17 Apr 2020 Disease Indolent primary cutaneous T-cell lymphoma MONDO CN228984 MONDO:0015816 17 Apr 2020 Disease Indolent systemic mastocytosis MONDO C0272203 MONDO:0020331 28 May 2020 Disease Indolylacroyl glycinuria with mental retardation NCBI curation C1855738 243050 16 Feb 2016 Disease Indomethacin antenatal infection 16 Feb 2016 Disease Indomethacin embryofetopathy MONDO C4275138 MONDO:0016005 17 Apr 2020 Disease Induced Thelarche and menarche CN185907 16 Feb 2016 Finding Induced vaginal delivery Human Phenotype Ontology C4072908 HP:0030369 16 Feb 2016 Finding Induratio penis plastica C0030848 171000 16 Feb 2016 Disease Inertia Human Phenotype Ontology C4022575 HP:0030216 16 Feb 2016 Finding Infancy electroclinical syndrome MONDO MONDO:0000413 17 Apr 2020 Disease Infancy onset short-trunk short stature Human Phenotype Ontology C1846061 HP:0011406 16 Feb 2016 Finding Infant botulism MONDO C0238027 MONDO:0015804 04 Jun 2020 Infectious disease Infant epilepsy with migrant focal crisis C4510564 16 Feb 2016 Disease Infant gynecomastia MONDO C1449721 MONDO:0001323 17 Apr 2020 Disease infant of diabetic mother 18 Jan 2019 Finding Infant onset multiple organ failure CN238836 27 Oct 2016 Finding infant seizures 05 Sep 2019 Finding Infantile apnea 16 Feb 2016 Disease Infantile axial hypotonia Human Phenotype Ontology C3806604 HP:0009062 16 Feb 2016 Finding Infantile axonal neuropathy 16 Feb 2016 Disease Infantile Bartter syndrome with sensorineural deafness MONDO C3838860 MONDO:0019524 17 Apr 2020 Disease INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT OMIM C5193037 618339 618339 27 Feb 2019 Disease Infantile cerebellar-retinal degeneration NCBI curation C3281192 614559 16 Feb 2016 Disease Infantile choroidocerebral calcification syndrome MONDO C1859092 MONDO:0008981 215480 17 Apr 2020 Disease Infantile colitis 27 Sep 2018 Finding Infantile convulsions and choreoathetosis MONDO C1865926 MONDO:0011178 602066 17 Apr 2020 Disease Infantile cortical hyperostosis C0020497 114000 16 Feb 2016 Disease Infantile cystic kidney disease 20 Jun 2019 Finding Infantile digital fibromatosis 16 Feb 2016 Disease Infantile dysphagia 16 Feb 2016 Disease Infantile dystonia-parkinsonism MONDO C2751067 MONDO:0013150 22 Apr 2020 Disease Infantile encephalopathy Human Phenotype Ontology C1856408 HP:0007105 16 Feb 2016 Finding Infantile epilepsy CN228296 16 Feb 2016 Finding Infantile epilepsy syndrome MONDO CN206975 MONDO:0020071 17 Apr 2020 Disease Infantile facioscapulohumeral muscular dystrophy NCBI curation 16 Feb 2016 Disease Infantile fibrosarcoma NCBI curation C0334459 04 Mar 2019 Disease Infantile fucosidosis C0268221 16 Feb 2016 Disease Infantile glycine encephalopathy MONDO CN203017 MONDO:0017354 17 Apr 2020 Disease Infantile GM1 gangliosidosis C0268271 230500 16 Feb 2016 Disease Infantile hemangioma of rare localization MONDO C3839613 MONDO:0016223 17 Apr 2020 Disease Infantile hypercalcemia Human Phenotype Ontology C0475732 HP:0008250 16 Feb 2016 Finding Infantile hypophosphatasia C0268412 241500 16 Feb 2016 Disease infantile hypotonia CN232331 16 Feb 2016 Finding Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome MONDO C4748715 MONDO:0033864 618218 17 Apr 2020 Disease Infantile Krabbe disease MONDO C0751273 MONDO:0016089 17 Apr 2020 Disease Infantile liver failure syndrome OMIM phenotypic series CN228161 PS615438 16 Feb 2016 Disease Infantile liver failure syndrome 1 NCBI curation C3809522 615438 16 Feb 2016 Disease Infantile liver failure syndrome 2 NCBI curation C3809651 616483 16 Feb 2016 Disease INFANTILE LIVER FAILURE SYNDROME 3 OMIM C5231437 618641 618641 26 Oct 2019 Disease Infantile mercury poisoning MONDO MONDO:0016588 17 Apr 2020 Disease Infantile multisystem inflammatory disease 16 Feb 2016 Disease Infantile muscular hypotonia Human Phenotype Ontology C1860834 HP:0008947 16 Feb 2016 Finding Infantile myofibromatosis OMIM phenotypic series C0432284 PS228550 16 Feb 2016 Disease Infantile myofibromatosis 1 NCBI curation C4551572 228550 16 Feb 2016 Disease Infantile myofibromatosis 2 NCBI curation C3809084 615293 16 Feb 2016 Disease Infantile nephronophthisis C1865872 602088 16 Feb 2016 Disease Infantile neuroaxonal dystrophy C0270724 256600 16 Feb 2016 Disease Infantile neuroaxonal dystrophy 1 CN260054 19 Jun 2019 Disease Infantile neuronal ceroid lipofuscinosis NCBI curation C0268281 16 Feb 2016 Disease Infantile Nystagmus C2673809 02 Dec 2016 Finding Infantile nystagmus with foveal hypoplasia 26 Jun 2019 Disease Infantile nystagmus, X-linked NCBI curation C1839580 310700 16 Feb 2016 Disease Infantile onset NCBI curation C1848924 16 Feb 2016 Finding Infantile onset panniculitis with uveitis and systemic granulomatosis MONDO C4750785 MONDO:0016661 17 Apr 2020 Disease Infantile or childhood onset neurodegenerative disease, global developmental delay, and intellectual disability 12 Sep 2017 Disease Infantile osteopetrosis 26 Jun 2019 Disease Infantile osteopetrosis with neuroaxonal dysplasia MONDO C1838258 MONDO:0010866 600329 17 Apr 2020 Disease Infantile recurrent chronic multifocal osteomyolitis 16 Feb 2016 Disease Infantile Refsum's disease C3550693 266510 16 Feb 2016 Disease Infantile seizures C1839710 16 Feb 2016 Disease Infantile sensorineural hearing impairment Human Phenotype Ontology C4021535 HP:0008610 16 Feb 2016 Finding Infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome MONDO CN202284 MONDO:0016981 17 Apr 2020 Disease Infantile spasms Human Phenotype Ontology C3887898 HP:0012469 16 Feb 2016 Finding Infantile spasms broad thumbs 16 Feb 2016 Disease Infantile spasms-broad thumbs syndrome MONDO CN203849 MONDO:0017852 17 Apr 2020 Disease Infantile striato thalamic degeneration 16 Feb 2016 Disease Infantile systemic hyalinosis CN969896 16 Feb 2016 Disease Infantile-onset ascending hereditary spastic paralysis C2931441 607225 16 Feb 2016 Disease Infantile-onset autosomal recessive nonprogressive cerebellar ataxia MONDO C1842676 MONDO:0011950 608029 17 Apr 2020 Disease Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome MONDO CN242083 MONDO:0018705 17 Apr 2020 Disease Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression MONDO C4750853 MONDO:0018314 17 Apr 2020 Disease Infantile-Onset Spinocerebellar Ataxia CN868252 16 Mar 2018 Disease Infected hydrocele MONDO C0156300 MONDO:0004919 17 Apr 2020 Disease Infection by Dracunculus medinensis C0013100 16 Feb 2016 Infectious disease Infection by Gnathostoma 16 Feb 2016 Disease Infection by larvae of Trichinella NCBI curation C0040896 10 Jun 2020 Disease Infection by Metagonimus yokogawai C0025530 16 Feb 2016 Infectious disease Infection by Paragonimus NCBI curation C0030424 16 Feb 2016 Infectious disease Infection by Strongyloides C0038463 16 Feb 2016 Infectious disease Infection by Trypanosoma cruzi C0041234 16 Feb 2016 Infectious disease Infection by Trypanosoma gambiense MONDO C0041232 MONDO:0021932 04 Jun 2020 Infectious disease Infection by Trypanosoma rhodesiense MONDO C0041233 MONDO:0021941 04 Jun 2020 Infectious disease Infection caused by Bifidobacterium MONDO C1096283 MONDO:0024410 04 Jun 2020 Infectious disease Infection due to clostridium perfringens MONDO C0275619 MONDO:0023149 04 Jun 2020 Infectious disease Infection-related hemolytic uremic syndrome MONDO CN263014 MONDO:0034103 17 Apr 2020 Disease Infections C0851162 16 Feb 2016 Finding Infections, recurrent, associated with encephalopathy, hepatic dysfunction, and cardiovascular malformations NCBI curation C4016797 23 Sep 2018 Disease Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations NCBI curation C3151062 613759 16 Feb 2016 Disease Infectious anterior uveitis MONDO C0154911 MONDO:0017210 04 Jun 2020 Infectious disease Infectious arthritis 16 Feb 2016 Disease Infectious colitis MONDO C0277524 MONDO:0006039 04 Jun 2020 Infectious disease Infectious disease MONDO C0009450 MONDO:0005550 04 Jun 2020 Infectious disease Infectious disease characteristic MONDO MONDO:0045034 17 Apr 2020 Disease Infectious disease of the nervous system MONDO C0597039 MONDO:0020010 04 Jun 2020 Infectious disease Infectious disease with dementia MONDO CN266535 MONDO:0020141 04 Jun 2020 Infectious disease Infectious disease with epilepsy MONDO CN266536 MONDO:0015659 04 Jun 2020 Infectious disease Infectious disease with peripheral neuropathy MONDO C1278821 MONDO:0016104 04 Jun 2020 Infectious disease Infectious Diseases CN282560 17 Jun 2020 Pharmacological response Infectious ectromelia MONDO C0013591 MONDO:0005809 17 Apr 2020 Disease Infectious embryofetopathy MONDO CN266538 MONDO:0016511 04 Jun 2020 Infectious disease Infectious encephalitis MONDO C0596773 MONDO:0020067 04 Jun 2020 Infectious disease Infectious epithelial keratitis MONDO C4749790 MONDO:0015289 04 Jun 2020 Infectious disease Infectious meningitis MONDO C0729584 MONDO:0004796 04 Jun 2020 Infectious disease Infectious mononucleosis MONDO C0021345 MONDO:0005810 04 Jun 2020 Infectious disease Infectious myocarditis 16 Feb 2016 Disease Infectious myositis MONDO CN281875 MONDO:0023483 04 Jun 2020 Infectious disease Infectious myxomatosis MONDO C0027152 MONDO:0005811 17 Apr 2020 Disease Infectious otitis interna MONDO C1168225 MONDO:0002812 04 Jun 2020 Infectious disease Infectious otitis media MONDO C2827407 MONDO:0024330 04 Jun 2020 Infectious disease Infectious panuveitis MONDO C5230354 MONDO:0017211 04 Jun 2020 Infectious disease Infectious posterior uveitis MONDO CN266542 MONDO:0017209 04 Jun 2020 Infectious disease Infectious, fungal or parasitic myopathy MONDO CN266543 MONDO:0016125 04 Jun 2020 Infectious disease Infective arthritis MONDO MONDO:0042485 17 Apr 2020 Disease Infective dermatitis associated with HTLV-1 MONDO CN266544 MONDO:0017326 04 Jun 2020 Infectious disease Infective endocarditis C1541923 16 Feb 2016 Infectious disease Infective myositis 16 Feb 2016 Disease Infective urethral stricture MONDO MONDO:0001771 17 Apr 2020 Disease Infective vaginitis MONDO C0404521 MONDO:0023557 04 Jun 2020 Infectious disease Inferior lens subluxation Human Phenotype Ontology C2036842 HP:0008494 16 Feb 2016 Finding Inferior myocardial infarction MONDO C0340305 MONDO:0006803 17 Apr 2020 Disease Inferior vena cava interruption MONDO CN207312 MONDO:0020452 17 Apr 2020 Disease Inferior vermis hypoplasia Human Phenotype Ontology C1855350 HP:0007068 16 Feb 2016 Finding Inferolateral myocardial infarct MONDO MONDO:0003676 17 Apr 2020 Disease Infertility Human Phenotype Ontology C0021359 HP:0000789 16 Feb 2016 Disease Infertility associated with multi-tailed spermatozoa and excessive DNA C0403812 243060 16 Feb 2016 Disease Infertility disorder MONDO MONDO:0005047 17 Apr 2020 Disease Infertility due to extratesticular cause MONDO C0021360 MONDO:0001877 17 Apr 2020 Disease Infertility due to oligospermia NCBI curation C0268980 16 Feb 2016 Disease Infertility, male and female NCBI curation 16 Feb 2016 Disease Infiltrating angiolipoma MONDO C1305256 MONDO:0002710 17 Apr 2020 Disease Infiltrating bladder lymphoepithelioma-like carcinoma MONDO C1512736 MONDO:0004299 17 Apr 2020 Disease Infiltrating bladder urothelial carcinoma MONDO C1334281 MONDO:0003890 17 Apr 2020 Disease Infiltrating bladder urothelial carcinoma sarcomatoid variant MONDO C1512743 MONDO:0004278 17 Apr 2020 Disease Infiltrating bladder urothelial carcinoma, clear cell variant MONDO C1512737 MONDO:0003889 17 Apr 2020 Disease Infiltrating duct carcinoma of breast NCBI curation C1134719 17 Sep 2018 Disease Infiltrating lipoma MONDO C0334473 MONDO:0004075 17 Apr 2020 Disease Infiltrating nipple syringomatous adenoma MONDO C1518329 MONDO:0004376 17 Apr 2020 Disease Infiltrating renal pelvis transitional cell carcinoma MONDO MONDO:0000381 17 Apr 2020 Disease Infiltrating renal pelvis/ureter urothelial carcinoma MONDO C1512750 MONDO:0004010 17 Apr 2020 Disease Infiltrating ureter transitional cell carcinoma MONDO MONDO:0020658 17 Apr 2020 Disease Infiltrating urothelial carcinoma MONDO C1512751 MONDO:0040678 17 Apr 2020 Disease Inflamed seborrheic keratosis MONDO C0376117 MONDO:0001337 17 Apr 2020 Disease Inflammation PharmGKB C0021368 18 May 2016 Disease Inflammation of heart layer MONDO MONDO:0024636 17 Apr 2020 Disease Inflammation of the large intestine Human Phenotype Ontology C0578878 HP:0002037 16 Feb 2016 Finding Inflammatory abnormality of the eye Human Phenotype Ontology C4020969 HP:0100533 16 Feb 2016 Finding Inflammatory abnormality of the skin Human Phenotype Ontology C3875321 HP:0011123 16 Feb 2016 Finding Inflammatory and autoimmune disease with epilepsy MONDO CN200066 MONDO:0015657 17 Apr 2020 Disease inflammatory and neurotoxic neuropathy 14 Mar 2019 Finding Inflammatory and toxic neuropathy MONDO C0154758 MONDO:0002336 17 Apr 2020 Disease Inflammatory arteriopathy Human Phenotype Ontology C4025222 HP:0005291 16 Feb 2016 Finding Inflammatory bowel disease OMIM phenotypic series C0021390 PS266600 06 Jul 2018 Disease Inflammatory bowel disease 1 NCBI curation C0678202 266600 16 Feb 2016 Disease Inflammatory bowel disease 1, Crohn disease CN260071 19 Jun 2019 Disease Inflammatory bowel disease 10 NCBI curation C1970207 611081 16 Feb 2016 Disease Inflammatory bowel disease 10, susceptibility to NCBI curation 16 Feb 2016 Disease Inflammatory bowel disease 11 NCBI curation C2674051 191390 16 Feb 2016 Disease Inflammatory bowel disease 12 NCBI curation C2677105 612241 16 Feb 2016 Disease Inflammatory bowel disease 13 NCBI curation C2677101 612244 16 Feb 2016 Disease Inflammatory bowel disease 14 NCBI curation C2677100 612245 16 Feb 2016 Disease Inflammatory bowel disease 14, susceptibility to NCBI curation 16 Feb 2016 Disease Inflammatory bowel disease 15 NCBI curation C2677094 612255 16 Feb 2016 Disease Inflammatory bowel disease 16 NCBI curation C2677093 612259 16 Feb 2016 Disease Inflammatory bowel disease 17 NCBI curation C2677091 612261 16 Feb 2016 Disease Inflammatory bowel disease 17, protection against NCBI curation C4017090 16 Feb 2016 Disease Inflammatory bowel disease 18 NCBI curation C2677090 612262 16 Feb 2016 Disease Inflammatory bowel disease 19 NCBI curation C2677079 612278 16 Feb 2016 Disease Inflammatory bowel disease 2 NCBI curation C1832321 601458 16 Feb 2016 Disease Inflammatory bowel disease 20 NCBI curation C2676781 612288 16 Feb 2016 Disease Inflammatory bowel disease 21 NCBI curation C2676507 612354 16 Feb 2016 Disease Inflammatory bowel disease 22 NCBI curation C2676485 612380 16 Feb 2016 Disease Inflammatory bowel disease 23 NCBI curation C2676484 612381 16 Feb 2016 Disease Inflammatory bowel disease 24 NCBI curation C2675509 612566 16 Feb 2016 Disease Inflammatory bowel disease 25, autosomal recessive NCBI curation C2675508 612567 16 Feb 2016 Disease Inflammatory bowel disease 25, early onset, autosomal recessive CN260072 19 Jun 2019 Disease Inflammatory bowel disease 26 NCBI curation C2675249 612639 16 Feb 2016 Disease Inflammatory bowel disease 27 NCBI curation C2748550 612796 16 Feb 2016 Disease Inflammatory bowel disease 28 NCBI curation C4016214 16 Feb 2016 Disease Inflammatory bowel disease 28, autosomal recessive NCBI curation C2751053 613148 16 Feb 2016 Disease Inflammatory bowel disease 28, early onset, autosomal recessive CN260073 19 Jun 2019 Disease INFLAMMATORY BOWEL DISEASE 29 OMIM C4748083 618077 618077 08 Aug 2018 Disease Inflammatory bowel disease 3 NCBI curation C1858303 604519 16 Feb 2016 Disease Inflammatory bowel disease 4 NCBI curation C1847691 606675 16 Feb 2016 Disease Inflammatory bowel disease 5 NCBI curation C1853438 606348 16 Feb 2016 Disease Inflammatory bowel disease 6 NCBI curation C1847692 606674 16 Feb 2016 Disease Inflammatory bowel disease 7 NCBI curation C1854573 605225 16 Feb 2016 Disease Inflammatory bowel disease 8 NCBI curation C1847719 606668 16 Feb 2016 Disease Inflammatory bowel disease 9 NCBI curation C1838019 608448 16 Feb 2016 Disease INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY OMIM C4748708 618213 618213 08 Dec 2018 Disease Inflammatory bowel disease-recurrent sinopulmonary infections syndrome MONDO CN261072 MONDO:0033969 17 Apr 2020 Disease Inflammatory Bowel Diseases;Precursor Cell Lymphoblastic Leukemia-Lymphoma PharmGKB 17 Feb 2017 Disease Inflammatory breast cancer 16 Feb 2016 Disease Inflammatory breast carcinoma MONDO C0278601 MONDO:0006804 17 Apr 2020 Disease Inflammatory cap polyp Human Phenotype Ontology C4476647 HP:0025198 02 Apr 2017 Finding Inflammatory component in muscle, irritable myopathy 15 Sep 2017 Finding Inflammatory diarrhea MONDO C0521604 MONDO:0000252 17 Apr 2020 Disease Inflammatory disease MONDO C1290884 MONDO:0021166 17 Apr 2020 Disease Inflammatory leiomyosarcoma MONDO C1334179 MONDO:0003347 17 Apr 2020 Disease Inflammatory linear verrucous epidermal nevus 16 Feb 2016 Disease Inflammatory liposarcoma MONDO C1370890 MONDO:0004510 17 Apr 2020 Disease Inflammatory myofibroblastic tumor C0334121 16 Feb 2016 Disease Inflammatory myopathy Human Phenotype Ontology CN971896 HP:0009071 16 Feb 2016 Disease Inflammatory myopathy with abundant macrophages MONDO C4707791 MONDO:0016609 17 Apr 2020 Disease Inflammatory response, modulation of NCBI curation 16 Feb 2016 Disease Inflammatory skin and bowel disease, neonatal 1 NCBI curation C3280501 614328 16 Feb 2016 Disease Inflammatory skin and bowel disease, neonatal, 2 NCBI curation C4015130 616069 16 Feb 2016 Disease Inflammatory spondylopathy MONDO MONDO:0001434 17 Apr 2020 Disease Inflexible adherence to routines or rituals Human Phenotype Ontology C1837653 HP:0000732 16 Feb 2016 Finding infliximab response - Efficacy PharmGKB CN236560 655384799 18 May 2016 Pharmacological response Influenza NCBI curation C3553462 614680 16 Feb 2016 Disease Infra-aortic superior vena cava Human Phenotype Ontology C4023232 HP:0011685 16 Feb 2016 Finding Infra-orbital crease Human Phenotype Ontology C1857280 HP:0100876 16 Feb 2016 Finding Infra-orbital fold Human Phenotype Ontology C4023449 HP:0011232 16 Feb 2016 Finding Infracardiac total anomalous pulmonary venous connection Human Phenotype Ontology C4021129 HP:0011721 16 Feb 2016 Finding Infratentorial cancer MONDO C0751593 MONDO:0003107 17 Apr 2020 Disease Infratentorial ependymal tumor MONDO C4330489 MONDO:0020685 17 Apr 2020 Disease Infratentorial neoplasm MONDO C0021432 MONDO:0037736 17 Apr 2020 Disease Infundibulo-neurohypophysitis MONDO C5190834 MONDO:0016534 17 Apr 2020 Disease Infundibulopelvic stenosis-multicystic kidney syndrome MONDO C1832949 MONDO:0010971 600989 17 Apr 2020 Disease Ingrown nail Human Phenotype Ontology C0027343 HP:0012710 16 Feb 2016 Finding Inguinal freckling Human Phenotype Ontology C1834297 HP:0030052 16 Feb 2016 Finding Inguinal hernia Human Phenotype Ontology C0019294 HP:0000023 16 Feb 2016 Finding Inh inactivation, fast NCBI curation 16 Feb 2016 Disease Inhalational anthrax MONDO C0155866 MONDO:0016595 04 Jun 2020 Infectious disease Inhalational botulism MONDO C1443900 MONDO:0016777 04 Jun 2020 Infectious disease Inherited MONDO MONDO:0021152 17 Apr 2020 Disease Inherited acute myeloid leukemia MONDO C4707228 MONDO:0017893 17 Apr 2020 Disease Inherited amino acid metabolic disorder MONDO MONDO:0004736 17 Apr 2020 Disease Inherited aplastic anemia MONDO CN227566 MONDO:0001713 17 Apr 2020 Disease Inherited auditory system disease MONDO C1285174 MONDO:0037940 17 Apr 2020 Disease Inherited bleeding disorder, platelet-type MONDO C0005818 MONDO:0000009 28 May 2020 Disease Inherited bone marrow failure syndrome C2986691 19 Feb 2016 Disease Inherited cardiac tumor MONDO CN202528 MONDO:0017129 17 Apr 2020 Disease Inherited deficiency anemia MONDO CN229055 MONDO:0016624 17 Apr 2020 Disease Inherited digestive cancer-predisposing syndrome MONDO CN237539 MONDO:0018538 17 Apr 2020 Disease Inherited digestive tract tumor MONDO CN202527 MONDO:0017128 17 Apr 2020 Disease Inherited disease susceptibility MONDO MONDO:0020573 17 Apr 2020 Disease Inherited dystonia MONDO CN227322 MONDO:0044807 17 Apr 2020 Disease Inherited epidermolysis bullosa MONDO CN277393 MONDO:0019276 17 Apr 2020 Disease Inherited Erythromelalgia CN239438 02 Dec 2016 Disease Inherited fatty acid metabolism disorder MONDO MONDO:0037858 17 Apr 2020 Disease Inherited glutathione metabolism disease MONDO C0268518 MONDO:0040566 17 Apr 2020 Disease Inherited gynecological tumor MONDO CN200581 MONDO:0015981 17 Apr 2020 Disease Inherited ichthyosis MONDO C0856562 MONDO:0015947 17 Apr 2020 Disease Inherited ichthyosis syndromic form MONDO CN227103 MONDO:0017263 17 Apr 2020 Disease Inherited Immunodeficiency Diseases 18 Mar 2020 Disease Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency MONDO C4707238 MONDO:0017337 17 Apr 2020 Disease Inherited lipid metabolism disorder MONDO C0154251 MONDO:0002525 17 Apr 2020 Disease Inherited lipoic acid biosynthesis defect MONDO CN227359 MONDO:0018424 17 Apr 2020 Disease Inherited lung disorders NCBI curation CN163264 16 Feb 2016 Disease Inherited mitral valve disease MONDO MONDO:0042966 17 Apr 2020 Disease Inherited nervous system cancer-predisposing syndrome MONDO CN202004 MONDO:0016756 17 Apr 2020 Disease Inherited neuroendocrine tumor MONDO CN202530 MONDO:0025511 17 Apr 2020 Disease Inherited non-syndromic ichthyosis MONDO CN227102 MONDO:0017262 17 Apr 2020 Disease Inherited odontologic disease MONDO CN205756 MONDO:0019183 17 Apr 2020 Disease Inherited peripheral neuropathy 16 Feb 2016 Disease Inherited primary ovarian failure MONDO CN261849 MONDO:0019852 17 Apr 2020 Disease Inherited prion disease MONDO CN266569 MONDO:0017234 04 Jun 2020 Infectious disease Inherited pseudoxanthoma elasticum MONDO C1274225 MONDO:0100091 17 Apr 2020 Disease Inherited reflex epilepsy MONDO MONDO:0023224 17 Apr 2020 Disease Inherited renal cancer-predisposing syndrome MONDO CN203941 MONDO:0017891 17 Apr 2020 Disease Inherited renal tubular disease MONDO CN262427 MONDO:0015962 17 Apr 2020 Disease Inherited renal tumor MONDO CN200562 MONDO:0015963 17 Apr 2020 Disease Inherited skin tumor MONDO CN200547 MONDO:0015950 17 Apr 2020 Disease Inherited soft tissue tumor MONDO CN202526 MONDO:0017127 17 Apr 2020 Disease Inherited susceptibility to mycobacterial diseases MONDO C3266863 MONDO:0019146 17 Apr 2020 Disease Inherited thyroid metabolism disease MONDO C0271824 MONDO:0045046 17 Apr 2020 Disease Inherited tremor disorder MONDO MONDO:0017663 17 Apr 2020 Disease Inherited vitreous-retinal disease MONDO MONDO:0020238 17 Apr 2020 Disease Iniencephaly C0152234 16 Feb 2016 Disease Injury MONDO MONDO:0021178 17 Apr 2020 Disease Inner ear cancer MONDO MONDO:0003278 17 Apr 2020 Disease Inner ear disease MONDO MONDO:0002467 17 Apr 2020 Disease Inner ear Malformation 07 Dec 2017 Disease Inner ear malformation 07 Dec 2017 Finding Inner retinal layer loss on macular OCT Human Phenotype Ontology C4073090 HP:0030620 16 Feb 2016 Finding Inosine phosphorylase deficiency, immune defect due to NCBI curation C1855737 243080 16 Feb 2016 Disease Inosine triphosphatase deficiency NCBI curation C0342800 613850 16 Feb 2016 Disease Insatiable appetite 22 Jun 2020 Finding Insect stings, hypersensitivity to NCBI curation C1840171 147540 16 Feb 2016 Disease Insensitivity to pain with hyperplastic myelinopathy NCBI curation C1840172 147530 16 Feb 2016 Disease Insomnia Human Phenotype Ontology C0917801 HP:0100785 16 Feb 2016 Disease Inspiratory stridor Human Phenotype Ontology C0677600 HP:0005348 16 Feb 2016 Finding INSR-related disorder 21 Dec 2019 Disease Insufficient response to short acting pulmonary vasodilator Human Phenotype Ontology C4293683 HP:0030894 02 Apr 2017 Finding insufficient sleep 05 Sep 2019 Finding Insulin autoimmune syndrome MONDO C0854359 MONDO:0018465 17 Apr 2020 Disease Insulin insensitivity Human Phenotype Ontology C1864570 HP:0008189 16 Feb 2016 Finding Insulin receptor antibody positivity Human Phenotype Ontology C4476973 HP:0031104 04 Apr 2018 Finding Insulin receptor, defect in NCBI curation 16 Feb 2016 Disease Insulin receptors, familial increase in NCBI curation C1840226 147320 16 Feb 2016 Disease Insulin resistance Human Phenotype Ontology C0021655 HP:0000855 16 Feb 2016 Disease Insulin resistance syndrome, type A C0342336 16 Feb 2016 Disease Insulin resistance, severe, digenic NCBI curation C4016701 16 Feb 2016 Disease Insulin resistance, susceptibility to NCBI curation C1852091 13 Dec 2018 Disease Insulin-dependent but ketosis-resistant diabetes Human Phenotype Ontology C1842404 HP:0008205 16 Feb 2016 Finding INSULIN-DEPENDENT DIABETES MELLITUS 1 CN970373 16 Feb 2016 Disease Insulin-dependent diabetes mellitus secretory diarrhea syndrome C0342288 304790 16 Feb 2016 Disease Insulin-like growth factor i, resistance to, due to increased binding protein NCBI curation 16 Feb 2016 Disease INSULIN-LIKE GROWTH FACTOR II POLYMORPHISM 16 Feb 2016 Disease Insulin-resistance syndrome type B MONDO C0342337 MONDO:0016464 17 Apr 2020 Disease Insulin-resistance type B 16 Feb 2016 Disease Insulin-resistant acanthosis nigricans, type A 16 Feb 2016 Disease Insulin-resistant diabetes mellitus Human Phenotype Ontology C0854110 HP:0000831 04 Apr 2018 Disease Insulin-resistant diabetes mellitus AND acanthosis nigricans C0342278 610549 16 Feb 2016 Disease Insulin-resistant diabetes mellitus at puberty Human Phenotype Ontology C1837792 HP:0000877 16 Feb 2016 Finding Integrative agnosia MONDO MONDO:0000673 17 Apr 2020 Disease Integumentary system benign neoplasm MONDO MONDO:0000652 17 Apr 2020 Disease Integumentary system cancer MONDO MONDO:0000653 17 Apr 2020 Disease Integumentary system disease MONDO C1290011 MONDO:0002051 17 Apr 2020 Disease intellectual deficiency CN228659 16 Feb 2016 Finding Intellectual delay 18 Jan 2019 Finding INTELLECTUAL DEVELOPMENTAL DISORDER 59 OMIM C5193140 618522 618522 01 Aug 2019 Disease INTELLECTUAL DEVELOPMENTAL DISORDER 60 WITH SEIZURES OMIM C5231497 618587 618587 19 Sep 2019 Disease INTELLECTUAL DEVELOPMENTAL DISORDER 61 OMIM C5231400 618009 618009 02 Feb 2020 Disease INTELLECTUAL DEVELOPMENTAL DISORDER 62 OMIM CN263332 618793 618793 29 Feb 2020 Disease Intellectual developmental disorder and retinitis pigmentosa; IDDRP MONDO C4748658 MONDO:0032594 618195 27 May 2020 Disease INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE OMIM C5193039 618342 618342 07 Mar 2019 Disease INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITH SEIZURES 20 Jun 2020 Disease INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES 20 Jun 2020 Disease INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES OMIM CN282600 618906 618906 21 Jun 2020 Disease INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES OMIM C5231476 618725 618725 13 Feb 2020 Disease Intellectual developmental disorder with cardiac arrhythmia NCBI curation C4310682 617173 20 Jun 2017 Disease Intellectual developmental disorder with cardiac defects and dysmorphic facies NCBI curation C5193024 618316 08 Mar 2019 Disease INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES OMIM C4748135 618089 618089 19 Aug 2018 Disease Intellectual developmental disorder with dysmorphic facies and ptosis NCBI curation C4310617 617333 20 Jun 2017 Disease Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies NCBI curation C4479520 617452 20 Jun 2017 Disease Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold NCBI curation C4479517 617450 20 Jun 2017 Disease INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES OMIM C4748381 618147 618147 18 Oct 2018 Disease INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES OMIM C5231489 618748 618748 29 Jan 2020 Disease INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES OMIM C5231444 618653 618653 10 Nov 2019 Disease INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY OMIM C4748428 618158 618158 01 Nov 2018 Disease INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES OMIM C5231426 618608 618608 06 Oct 2019 Disease INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES OMIM C4479636 617532 617532 28 Jun 2017 Disease INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA OMIM C4748041 618060 618060 29 Jul 2018 Disease Intellectual developmental disorder with persistence of fetal hemoglobin NCBI curation C4310833 617101 20 Jun 2017 Disease INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA OMIM CN263395 618808 618808 28 Mar 2020 Disease INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS OMIM C5193115 618470 618470 21 Jun 2019 Disease INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES OMIM C5231462 618687 618687 06 Dec 2019 Disease INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES OMIM C5193105 618453 618453 01 Jun 2019 Disease INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES OMIM C5231456 618672 618672 29 Nov 2019 Disease INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES OMIM C4748152 618092 618092 30 Aug 2018 Disease INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY OMIM CN263464 618825 618825 02 Apr 2020 Disease INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 OMIM C4749019 618295 618295 26 Jan 2019 Disease INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 OMIM C4749033 618302 618302 01 Feb 2019 Disease INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69 OMIM C5193067 618383 618383 12 Apr 2019 Disease INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 OMIM C5193077 618402 618402 28 Apr 2019 Disease INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71 OMIM C5193133 618504 618504 21 Jul 2019 Disease INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72 OMIM C5231452 618665 618665 24 Nov 2019 Disease INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 OMIM C5193009 301024 301024 07 Apr 2019 Disease INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE OMIM CN263370 301039 301039 18 Mar 2020 Disease intellectual disabilites 05 Sep 2019 Finding Intellectual disability Human Phenotype Ontology C1843367 HP:0001249 16 Feb 2016 Finding Intellectual disability (mild) CN240508 09 Feb 2017 Disease Intellectual disability (severe) CN236730 09 Jun 2016 Finding Intellectual disability and seizures CN231403 16 Feb 2016 Disease intellectual disability auditory processing disorder 05 Sep 2019 Finding Intellectual disability syndrome due to a DYRK1A point mutation CN244919 11 May 2018 Disease Intellectual disability with episodic ataxia and congenital arthrogryposis CN228792 16 Feb 2016 Disease Intellectual Disability with Language Impairment and Autistic Features CN239203 02 Dec 2016 Disease intellectual disability with severe speech impairment CN232368 16 Feb 2016 Disease Intellectual disability, autosomal dominant 45 MONDO C4539848 MONDO:0030910 617600 17 Apr 2020 Disease Intellectual disability, autosomal dominant 46 MONDO C4539851 MONDO:0030911 617601 17 Apr 2020 Disease Intellectual disability, autosomal dominant 47 MONDO C4539951 MONDO:0030912 617635 27 May 2020 Disease Intellectual disability, autosomal dominant 48 MONDO C4540321 MONDO:0030913 617751 17 Apr 2020 Disease Intellectual disability, autosomal dominant 50 MONDO C4540470 MONDO:0030916 617787 17 Apr 2020 Disease Intellectual disability, autosomal dominant 51 MONDO C4540474 MONDO:0030917 617788 17 Apr 2020 Disease Intellectual disability, autosomal dominant 52 MONDO C4540478 MONDO:0030918 617796 17 Apr 2020 Disease Intellectual disability, autosomal dominant 53 MONDO C4540481 MONDO:0030919 617798 17 Apr 2020 Disease Intellectual disability, autosomal dominant 54 MONDO C4540484 MONDO:0030920 617799 17 Apr 2020 Disease Intellectual disability, autosomal dominant 55, with seizures MONDO C4693371 MONDO:0030921 617831 17 Apr 2020 Disease Intellectual disability, autosomal dominant 56 MONDO C4693389 MONDO:0030922 617854 17 Apr 2020 Disease Intellectual disability, autosomal dominant 9 MONDO C3280283 MONDO:0013656 614255 20 Jun 2020 Disease Intellectual disability, autosomal dominant 9 MONDO C3280283 MONDO:0013656 614255 20 Jun 2020 Disease Intellectual disability, autosomal recessive 61 MONDO C4540424 MONDO:0030915 617773 17 Apr 2020 Disease Intellectual disability, autosomal recessive 63 MONDO C4748167 MONDO:0054861 618095 17 Apr 2020 Disease Intellectual disability, autosomal recessive 65 MONDO C4748219 MONDO:0020850 618109 17 Apr 2020 Disease Intellectual disability, borderline Human Phenotype Ontology C0006009 HP:0006889 16 Feb 2016 Finding Intellectual disability, Buenos-Aires type MONDO C0796080 MONDO:0009584 249630 17 Apr 2020 Disease Intellectual Disability, Dominant CN239282 02 Dec 2016 Disease Intellectual disability, keratoconus, febrile seizures, and sinoatrial block MONDO C1836202 MONDO:0012272 609438 17 Apr 2020 Disease Intellectual disability, mild Human Phenotype Ontology C0026106 HP:0001256 16 Feb 2016 Finding Intellectual disability, moderate Human Phenotype Ontology C0026351 HP:0002342 16 Feb 2016 Finding Intellectual disability, obesity, retinal dystrophy 10 Sep 2018 Finding Intellectual disability, profound Human Phenotype Ontology C3161330 HP:0002187 16 Feb 2016 Finding Intellectual disability, progressive Human Phenotype Ontology C1846149 HP:0006887 16 Feb 2016 Finding Intellectual disability, Psychomotor delay, Short stature, Craniofacial, eye, and hand anomalies 13 Nov 2017 Finding Intellectual Disability, Recessive CN239290 02 Dec 2016 Disease Intellectual disability, seizures, abnormal gait and distinctive facial features 06 Feb 2018 Disease Intellectual disability, severe Human Phenotype Ontology C0036857 HP:0010864 16 Feb 2016 Finding Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations CN239216 02 Dec 2016 Disease Intellectual disability, TBR1 related CN236386 29 Apr 2016 Disease Intellectual disability, Wolff type MONDO C1848439 MONDO:0010203 277990 17 Apr 2020 Disease Intellectual disability, X-linked 106 MONDO C4478379 MONDO:0030907 300997 17 Apr 2020 Disease Intellectual disability, x-linked 107 MONDO C4692652 MONDO:0049222 301013 17 Apr 2020 Disease Intellectual disability, X-linked, syndromic, Houge type MONDO C4538788 MONDO:0030909 301008 17 Apr 2020 Disease Intellectual disability-balding-patella luxation-acromicria syndrome MONDO C1866985 MONDO:0010505 300977 17 Apr 2020 Disease Intellectual disability-cataracts-calcified pinnae-myopathy syndrome MONDO C0796121 MONDO:0009798 259050 17 Apr 2020 Disease Intellectual disability-cataracts-kyphosis syndrome MONDO CN226733 MONDO:0015752 17 Apr 2020 Disease Intellectual disability-developmental delay-contractures syndrome MONDO C0796200 MONDO:0010758 314580 29 May 2020 Disease Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome MONDO C1855303 MONDO:0009581 249599 17 Apr 2020 Disease Intellectual disability-expressive aphasia-facial dysmorphism syndrome MONDO CN237587 MONDO:0018574 17 Apr 2020 Disease Intellectual disability-facial dysmorphism-hand anomalies syndrome MONDO C4750848 MONDO:0018253 17 Apr 2020 Disease Intellectual disability-hyperkinetic movement-truncal ataxia syndrome MONDO C5192595 MONDO:0018243 17 Apr 2020 Disease Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome MONDO C4302530 MONDO:0015458 17 Apr 2020 Disease Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome MONDO C4751073 MONDO:0017805 17 Apr 2020 Disease Intellectual disability-hypotonia-skin hyperpigmentation syndrome MONDO MONDO:0017613 17 Apr 2020 Disease Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome MONDO MONDO:0017642 17 Apr 2020 Disease Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome MONDO CN242088 MONDO:0018711 17 Apr 2020 Disease Intellectual disability-myopathy-short stature-endocrine defect syndrome MONDO C1854663 MONDO:0009671 253320 17 Apr 2020 Disease Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome MONDO CN204496 MONDO:0018123 17 Apr 2020 Disease Intellectual disability-polydactyly-uncombable hair syndrome MONDO C2931547 MONDO:0017682 17 Apr 2020 Disease Intellectual disability-seizures-macrocephaly-obesity syndrome MONDO C4749455 MONDO:0018248 17 Apr 2020 Disease Intellectual disability-short stature-hypertelorism syndrome MONDO C4749650 MONDO:0017668 17 Apr 2020 Disease Intellectual disability. 20 Jun 2019 Finding Intellectual disabilty 18 Apr 2019 Finding Intellectual functioning disability NCBI curation C0025362 16 Feb 2016 Disease Intellecutal disability CN234671 16 Feb 2016 Finding Intellecutal disability, seizures CN234672 16 Feb 2016 Finding Intelligence quantitative trait locus 1 NCBI curation C1863535 603783 16 Feb 2016 Disease Intelligence quantitative trait locus 2 NCBI curation C1853204 610294 16 Feb 2016 Disease Intelligence quantitative trait locus 3 NCBI curation C1853203 610295 16 Feb 2016 Disease Intention tremor Human Phenotype Ontology C4551520 HP:0002080 16 Feb 2016 Finding INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 1 POLYMORPHISM 16 Feb 2016 Disease Intercalary limb defects MONDO CN227127 MONDO:0017420 17 Apr 2020 Disease Intercellular cholesterol esterification disease 16 Feb 2016 Disease Intercostal muscle weakness Human Phenotype Ontology C0240017 HP:0004878 16 Feb 2016 Finding Intercostal retractions Human Phenotype Ontology C0425470 HP:0030864 02 Apr 2017 Finding Intercrural pterygium Human Phenotype Ontology C3810471 HP:0009757 16 Feb 2016 Finding Interdigital loops Human Phenotype Ontology C4021944 HP:0100888 16 Feb 2016 Finding Interdigitating dendritic cell sarcoma MONDO C1260326 MONDO:0005813 17 Apr 2020 Disease interferon alfa-2b, recombinant and ribavirin response - Dosage, Toxicity/ADR PharmGKB CN236452 981237907 18 May 2016 Pharmacological response Interferon antiviral depressor NCBI curation C1840150 147560 16 Feb 2016 Disease Interferon gamma receptor deficiency NCBI curation C1112429 16 Feb 2016 Disease Interferon, beta-3 NCBI curation CN220450 147860 16 Feb 2016 Disease interferons, peginterferon alfa-2a, peginterferon alfa-2b, and ribavirin response - Efficacy PharmGKB CN236449 981239773 18 May 2016 Pharmacological response Interfrontal craniofaciosynostosis NCBI curation CN236409 04 May 2016 Disease Interictal EEG abnormality Human Phenotype Ontology C4476738 HP:0025373 04 Apr 2018 Finding Interleukin 2 receptor, alpha, deficiency of NCBI curation C1853392 606367 16 Feb 2016 Disease INTERLEUKIN 6 POLYMORPHISM 16 Feb 2016 Disease Interleukin 6, serum level of, quantitative trait locus NCBI curation C3540094 614752 24 Aug 2016 Disease Interlobular bile duct destruction Human Phenotype Ontology C4476714 HP:0025344 02 Apr 2017 Finding Interlobular septal thickening on pulmonary HRCT Human Phenotype Ontology C4280727 HP:0030879 04 Apr 2018 Finding Intermediate atrioventricular canal defect Human Phenotype Ontology C4023291 HP:0011576 16 Feb 2016 Finding Intermediate cell type choroid melanoma MONDO C1334208 MONDO:0004065 17 Apr 2020 Disease Intermediate cell type ciliary body melanoma MONDO C1334209 MONDO:0004066 17 Apr 2020 Disease Intermediate cell type iris melanoma MONDO C1334210 MONDO:0004063 17 Apr 2020 Disease Intermediate cell type uveal melanoma MONDO C0279693 MONDO:0004062 17 Apr 2020 Disease Intermediate Charcot-Marie-Tooth Neuropathy CN230156 16 Feb 2016 Disease Intermediate coronary syndrome MONDO C0002965 MONDO:0006805 17 Apr 2020 Disease Intermediate DEND syndrome MONDO CN207495 MONDO:0020569 17 Apr 2020 Disease Intermediate malignant teratoma MONDO C0334522 MONDO:0004140 17 Apr 2020 Disease Intermediate maple syrup urine disease NCBI curation C1621920 16 Feb 2016 Disease Intermediate maple syrup urine disease type 2 NCBI curation CN069615 16 Feb 2016 Disease Intermediate muscular dystrophy NCBI curation C4016477 16 Feb 2016 Disease Intermediate nemaline myopathy MONDO CN200270 MONDO:0015736 17 Apr 2020 Disease Intermediate phenotype NCBI curation CN118023 16 Feb 2016 Disease Intermediate severe Salla disease MONDO CN203640 MONDO:0017737 17 Apr 2020 Disease Intermediate uveitis Human Phenotype Ontology C0042166 HP:0012124 16 Feb 2016 Finding Intermittent claudication Human Phenotype Ontology C0021775 HP:0004417 16 Feb 2016 Finding Intermittent diarrhea Human Phenotype Ontology C0239181 HP:0002254 16 Feb 2016 Finding Intermittent episodes of respiratory insufficiency due to muscle weakness Human Phenotype Ontology C3807025 HP:0004889 16 Feb 2016 Finding intermittent explosive disorder C0021776 05 Sep 2019 Finding Intermittent generalized erythematous papular rash Human Phenotype Ontology C2749995 HP:0007432 16 Feb 2016 Finding Intermittent hydrarthrosis MONDO C0149910 MONDO:0018015 17 Apr 2020 Disease Intermittent hyperpnea at rest Human Phenotype Ontology C4025098 HP:0005941 16 Feb 2016 Finding Intermittent hyperventilation Human Phenotype Ontology C1828017 HP:0004879 16 Feb 2016 Finding Intermittent hypothermia Human Phenotype Ontology C1837639 HP:0005964 16 Feb 2016 Finding intermittent irregular jerking 13 Feb 2020 Finding Intermittent jaundice Human Phenotype Ontology C4025805 HP:0001046 16 Feb 2016 Finding Intermittent lactic acidemia Human Phenotype Ontology C1844917 HP:0004913 16 Feb 2016 Finding Intermittent maple syrup urine disease Orphanet C0268569 ORPHA268162 06 Oct 2018 Disease Intermittent microsaccadic pursuits Human Phenotype Ontology C4024768 HP:0007944 16 Feb 2016 Finding Intermittent painful muscle spasms Human Phenotype Ontology C4023104 HP:0011964 16 Feb 2016 Finding Intermittent proptosis MONDO C0155270 MONDO:0001512 17 Apr 2020 Disease Intermittent squint MONDO C0152210 MONDO:0002152 17 Apr 2020 Disease Intermittent thrombocytopenia Human Phenotype Ontology C1839167 HP:0004854 16 Feb 2016 Finding Intermixed schwannian stroma-rich ganglioneuroblastoma MONDO C1517444 MONDO:0003326 17 Apr 2020 Disease Internal auditory canal lipoma MONDO C1334226 MONDO:0003984 17 Apr 2020 Disease Internal auditory canal meningioma MONDO C1334227 MONDO:0003722 17 Apr 2020 Disease Internal carotid agenesis CN269119 16 Feb 2016 Disease Internal carotid arteries, hypoplasia of MONDO C1855736 MONDO:0009463 243100 17 Apr 2020 Disease Internal carotid artery calcification Human Phenotype Ontology C4531211 HP:0031307 04 Apr 2018 Finding Internal carotid artery dissection Human Phenotype Ontology C0751815 HP:0012159 16 Feb 2016 Finding Internal carotid artery stenosis MONDO C0340569 MONDO:0005189 17 Apr 2020 Disease Internal carotid artery, spontaneous dissection of NCBI curation C1840073 147820 16 Feb 2016 Disease Internal hemorrhage Human Phenotype Ontology C1390214 HP:0011029 16 Feb 2016 Finding Internal hemorrhoid MONDO C0265034 MONDO:0004873 17 Apr 2020 Disease Internal hirudiniasis MONDO C0348999 MONDO:0024302 04 Jun 2020 Infectious disease Internal malformations 18 Jul 2019 Disease Internal notch of the femoral head Human Phenotype Ontology C3276320 HP:0031027 04 Apr 2018 Finding Internal ophthalmoplegia Human Phenotype Ontology C0339693 HP:0007942 16 Feb 2016 Finding Internal pathological resorption of tooth MONDO MONDO:0001668 17 Apr 2020 Disease Internally nucleated skeletal muscle fibers Human Phenotype Ontology C4531255 HP:0031237 04 Apr 2018 Finding Internally rotated shoulders Human Phenotype Ontology C1862491 HP:0006659 16 Feb 2016 Finding Internuclear ophthalmoplegia Human Phenotype Ontology C0152134 HP:0030773 02 Apr 2017 Finding Interosseus muscle atrophy Human Phenotype Ontology C1846829 HP:0007181 16 Feb 2016 Finding Interphalangeal joint contracture of finger Human Phenotype Ontology C4021784 HP:0001220 16 Feb 2016 Finding Interphalangeal joint erosions Human Phenotype Ontology C1850158 HP:0006252 16 Feb 2016 Finding Interrupted aortic arch Human Phenotype Ontology C0152419 HP:0011611 16 Feb 2016 Disease Interrupted aortic arch type A Human Phenotype Ontology C0345092 HP:0011612 16 Feb 2016 Finding Interrupted aortic arch type B Human Phenotype Ontology C0345093 HP:0011613 16 Feb 2016 Finding Interrupted aortic arch type C Human Phenotype Ontology C0345094 HP:0011614 16 Feb 2016 Finding Interrupted inferior vena cava with azygous continuation Human Phenotype Ontology C4023237 HP:0011671 16 Feb 2016 Finding Interstitial cardiac fibrosis Human Phenotype Ontology C4531194 HP:0031329 04 Apr 2018 Finding Interstitial cystitis MONDO C0282488 MONDO:0018301 17 Apr 2020 Disease Interstitial emphysema MONDO C1370824 MONDO:0000923 17 Apr 2020 Disease Interstitial granulomatous dermatitis with arthritis MONDO C4751206 MONDO:0019199 07 Jun 2020 Disease Interstitial keratitis MONDO C0155088 MONDO:0004902 17 Apr 2020 Disease Interstitial lung and liver disease NCBI curation C4225400 615486 16 Feb 2016 Disease Interstitial lung disease in childhood and adulthood MONDO CN202341 MONDO:0017030 17 Apr 2020 Disease Interstitial lung disease specific to adulthood MONDO CN202338 MONDO:0017026 17 Apr 2020 Disease Interstitial lung disease specific to childhood MONDO CN202324 MONDO:0017014 17 Apr 2020 Disease Interstitial lung disease specific to infancy MONDO CN202332 MONDO:0017019 17 Apr 2020 Disease Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital NCBI curation C3553636 614748 16 Feb 2016 Disease Interstitial myocarditis MONDO C0027060 MONDO:0004485 17 Apr 2020 Disease Interstitial nephritis MONDO C0041349 MONDO:0001085 17 Apr 2020 Disease Interstitial nephritis Human Phenotype Ontology C0041349 HP:0001970 17 Apr 2020 Disease Interstitial nephritis, karyomegalic NCBI curation C3553774 614817 16 Feb 2016 Disease Interstitial pneumonitis Human Phenotype Ontology C0206061 HP:0006515 16 Feb 2016 Finding Interstitial pulmonary abnormality Human Phenotype Ontology C0206062 HP:0006530 02 Apr 2017 Finding Intertrigo MONDO C0021807 MONDO:0021340 17 Apr 2020 Disease Interval angle-closure glaucoma MONDO C0154945 MONDO:0001742 17 Apr 2020 Disease Intervertebral disc degeneration Human Phenotype Ontology C0158266 HP:0008419 16 Feb 2016 Finding Intervertebral disc disease, susceptibility to NCBI curation 16 Feb 2016 Disease Intervertebral disc disorder C0158252 603932 16 Feb 2016 Disease Intervertebral disk calcification Human Phenotype Ontology C0410607 HP:0005645 16 Feb 2016 Finding Intervertebral space narrowing Human Phenotype Ontology C0263870 HP:0002945 16 Feb 2016 Finding Intestinal atresia Human Phenotype Ontology C0021828 HP:0011100 16 Feb 2016 Finding Intestinal benign neoplasm MONDO C0347269 MONDO:0003062 17 Apr 2020 Disease Intestinal bleeding Human Phenotype Ontology C0267373 HP:0002584 16 Feb 2016 Finding Intestinal botulism MONDO C1443901 MONDO:0015805 04 Jun 2020 Infectious disease Intestinal cancer MONDO C0346627 MONDO:0005814 17 Apr 2020 Disease Intestinal carcinoid Human Phenotype Ontology C4024988 HP:0006723 16 Feb 2016 Finding Intestinal disaccharidase deficiency MONDO MONDO:0004905 17 Apr 2020 Disease Intestinal disease MONDO MONDO:0005020 17 Apr 2020 Disease Intestinal disease due to fat malabsorption MONDO CN197522 MONDO:0015180 17 Apr 2020 Disease Intestinal disease due to vitamin absorption anomaly MONDO CN197521 MONDO:0015179 17 Apr 2020 Disease Intestinal duplication Human Phenotype Ontology C0266166 HP:0100668 16 Feb 2016 Finding Intestinal edema Human Phenotype Ontology C1142262 HP:0005225 16 Feb 2016 Finding Intestinal fistula Human Phenotype Ontology C0021833 HP:0100819 16 Feb 2016 Finding Intestinal hypoplasia Human Phenotype Ontology C4021640 HP:0005245 16 Feb 2016 Finding Intestinal impaction MONDO MONDO:0004571 17 Apr 2020 Disease Intestinal infectious disease MONDO C0178238 MONDO:0000916 04 Jun 2020 Infectious disease Intestinal lymphangiectasis C0024215 152800 16 Feb 2016 Disease Intestinal lymphedema Human Phenotype Ontology C4025292 HP:0004788 16 Feb 2016 Finding Intestinal lymphoid nodular hyperplasia Human Phenotype Ontology C4023109 HP:0011956 02 Apr 2017 Finding Intestinal malformation MONDO CN227726 MONDO:0019999 17 Apr 2020 Disease Intestinal malrotation Human Phenotype Ontology C2749839 HP:0002566 16 Feb 2016 Finding intestinal malrotation (operated) 22 Aug 2019 Finding Intestinal motility disease MONDO MONDO:0021189 17 Apr 2020 Disease Intestinal neoplasm MONDO C0021841 MONDO:0021118 17 Apr 2020 Disease Intestinal neuroendocrine neoplasm MONDO C1334231 MONDO:0002883 17 Apr 2020 Disease Intestinal neuroendocrine tumor G1 MONDO MONDO:0021533 17 Apr 2020 Disease Intestinal obstruction Human Phenotype Ontology C0021843 HP:0005214 16 Feb 2016 Finding Intestinal perforation Human Phenotype Ontology C0021845 HP:0031368 04 Apr 2018 Finding Intestinal polyp Human Phenotype Ontology C0021846 HP:0005266 16 Feb 2016 Finding Intestinal polyp (disease) MONDO MONDO:0005288 17 Apr 2020 Disease Intestinal polyposis Human Phenotype Ontology C1257915 HP:0200008 16 Feb 2016 Finding Intestinal polyposis syndrome MONDO C0345891 MONDO:0015185 17 Apr 2020 Disease Intestinal pseudo-obstruction Human Phenotype Ontology C0021847 HP:0004389 615237 04 Apr 2018 Disease Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked MONDO C2746068 MONDO:0010232 300048 22 Apr 2020 Disease Intestinal tuberculosis MONDO C0275911 MONDO:0001678 04 Jun 2020 Infectious disease Intestinal type adenocarcinoma MONDO C0334279 MONDO:0006254 17 Apr 2020 Disease Intestinal variant cervical mucinous adenocarcinoma MONDO C1516422 MONDO:0004537 17 Apr 2020 Disease Intestine carcinoma in situ MONDO C0685941 MONDO:0004698 17 Apr 2020 Disease Intimal medial thickness of internal carotid artery, modifier of NCBI curation 16 Feb 2016 Disease Intimal sarcoma MONDO C1708550 MONDO:0006255 17 Apr 2020 Disease Intimal thickening in the coronary arteries Human Phenotype Ontology C1968633 HP:0005292 16 Feb 2016 Finding Intolerance to protein Human Phenotype Ontology C1396243 HP:0001984 16 Feb 2016 Finding intra uterine drug exposure 05 Sep 2019 Finding Intra-abdominal hemangioma MONDO C0154052 MONDO:0002337 17 Apr 2020 Disease Intra-abdominal lymph node mast cell malignancy MONDO C0153844 MONDO:0001614 17 Apr 2020 Disease Intra-articular bleeding CN240391 03 Feb 2017 Finding Intra-oral hyperpigmentation Human Phenotype Ontology C0399483 HP:0010284 16 Feb 2016 Finding Intra-uterine growth retardation CN235250 19 Feb 2016 Finding Intraalveolar nodular calcifications Human Phenotype Ontology C4025028 HP:0006514 16 Feb 2016 Finding Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material Human Phenotype Ontology C4024964 HP:0006916 16 Feb 2016 Finding Intracellular accumulation of autofluorescent lipopigment storage material Human Phenotype Ontology C4025642 HP:0003204 16 Feb 2016 Finding Intracerebral cystic meningioma MONDO C1334236 MONDO:0003773 17 Apr 2020 Disease Intracerebral periventricular calcifications Human Phenotype Ontology C1837246 HP:0007229 16 Feb 2016 Finding Intracranial abscess MONDO C0021874 MONDO:0000939 04 Jun 2020 Infectious disease Intracranial aneurysms multiple congenital anomaly 16 Feb 2016 Disease Intracranial arterial calcification Human Phenotype Ontology C4531212 HP:0031306 04 Apr 2018 Finding Intracranial arterial disease MONDO C0752138 MONDO:0006808 17 Apr 2020 Disease Intracranial arteriosclerosis MONDO C0007771 MONDO:0001632 17 Apr 2020 Disease Intracranial arteriovenous malformation 16 Feb 2016 Disease Intracranial berry aneurysm NCBI curation CN230268 16 Feb 2016 Disease Intracranial cavernous angioma MONDO C1334237 MONDO:0002327 17 Apr 2020 Disease Intracranial cystic lesion Human Phenotype Ontology C4021250 HP:0010576 16 Feb 2016 Finding Intracranial dermoid cyst Human Phenotype Ontology C4023044 HP:0012097 16 Feb 2016 Finding Intracranial embolism MONDO C0752140 MONDO:0006809 17 Apr 2020 Disease Intracranial epidermoid cyst Human Phenotype Ontology C4023045 HP:0012096 16 Feb 2016 Finding Intracranial extraskeletal myxoid chondrosarcoma MONDO C1334238 MONDO:0004392 17 Apr 2020 Disease Intracranial haemorrhage CN239965 23 Jan 2017 Finding Intracranial hemangioma MONDO C0154050 MONDO:0002328 17 Apr 2020 Disease Intracranial hemorrhage Human Phenotype Ontology C0151699 HP:0002170 27 Apr 2020 Finding Intracranial hemorrhage in brain arteriovenous malformations, susceptibility to NCBI curation 16 Feb 2016 Disease Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to NCBI curation 16 Feb 2016 Disease Intracranial internal carotid artery dissection Human Phenotype Ontology C4023017 HP:0012160 16 Feb 2016 Finding Intracranial liposarcoma MONDO C1334242 MONDO:0003602 17 Apr 2020 Disease Intracranial meningioma Human Phenotype Ontology C0349604 HP:0100009 16 Feb 2016 Finding Intracranial neurenteric cyst Human Phenotype Ontology C4280680 HP:0030727 02 Apr 2017 Finding Intracranial primitive neuroectodermal tumor MONDO C1334246 MONDO:0003142 17 Apr 2020 Disease Intracranial sinus thrombosis MONDO C0037198 MONDO:0002692 17 Apr 2020 Disease Intracranial thrombosis MONDO C0752143 MONDO:0002907 17 Apr 2020 Disease Intracranial vasospasm MONDO C0751895 MONDO:0006812 17 Apr 2020 Disease intractable absence epilepsy 05 Sep 2019 Finding intractable absence seizures C3662031 18 Jan 2019 Finding Intractable diarrhea Human Phenotype Ontology C0743178 HP:0002041 16 Feb 2016 Finding Intractable diarrhea-choanal atresia-eye anomalies syndrome MONDO CN226653 MONDO:0015295 17 Apr 2020 Disease intractable epilepsy C1096063 16 Feb 2016 Finding Intractable hiccups 16 Feb 2016 Disease Intractable seizure C2674422 16 Feb 2016 Finding Intractable status epilepticus 12 Sep 2018 Disease intractable withoutut status migraius 05 Sep 2019 Finding Intracystic papillary adenoma MONDO C0334374 MONDO:0002388 17 Apr 2020 Disease Intradermal nevus MONDO C0206737 MONDO:0006813 17 Apr 2020 Disease Intraductal breast myoepitheliosis MONDO C1512935 MONDO:0004449 17 Apr 2020 Disease Intraductal breast neoplasm MONDO C0948967 MONDO:0002488 17 Apr 2020 Disease Intraductal breast papilloma MONDO C0238034 MONDO:0021097 17 Apr 2020 Disease Intraductal breast papillomatosis MONDO C1334247 MONDO:0004253 17 Apr 2020 Disease Intraductal cribriform breast adenocarcinoma MONDO C1334248 MONDO:0045060 17 Apr 2020 Disease Intraductal papillary breast neoplasm MONDO C1334252 MONDO:0002061 17 Apr 2020 Disease Intraductal papilloma MONDO C0206713 MONDO:0002060 17 Apr 2020 Disease Intraductal papillomatosis MONDO C0334377 MONDO:0021099 17 Apr 2020 Disease Intradural extramedullary spinal canal neoplasm MONDO C1334255 MONDO:0003545 17 Apr 2020 Disease Intradural spinal arachnoid cyst C0344485 182990 16 Feb 2016 Disease Intraepithelial neoplasia MONDO C0878500 MONDO:0024474 17 Apr 2020 Disease Intrahepatic bile duct adenoma MONDO C1331535 MONDO:0003444 17 Apr 2020 Disease Intrahepatic bile duct cancer MONDO C0546835 MONDO:0001487 17 Apr 2020 Disease Intrahepatic bile duct cystadenoma MONDO C1334257 MONDO:0003979 17 Apr 2020 Disease Intrahepatic bile duct cysts Human Phenotype Ontology C0400991 HP:0005209 16 Feb 2016 Finding Intrahepatic biliary atresia Human Phenotype Ontology C1855284 HP:0005248 16 Feb 2016 Finding Intrahepatic biliary dysgenesis Human Phenotype Ontology C1859235 HP:0001401 16 Feb 2016 Finding Intrahepatic biliary papillomatosis MONDO C1334258 MONDO:0004509 17 Apr 2020 Disease Intrahepatic cholangiocarcinoma C0345905 24 Jul 2019 Disease Intrahepatic Cholestasis NCBI curation C0008372 24 Jul 2019 Disease Intrahepatic cholestasis of pregnancy, NR1H4 related CN236385 29 Apr 2016 Disease Intrahepatic cholestasis with episodic jaundice Human Phenotype Ontology C4025019 HP:0006575 16 Feb 2016 Finding Intrahepatic portal vein sclerosis Human Phenotype Ontology C4476911 HP:0031015 04 Apr 2018 Finding Intralobar congenital pulmonary sequestration MONDO CN202763 MONDO:0017245 17 Apr 2020 Disease Intralobar nephroblastomatosis Human Phenotype Ontology C4551835 HP:0011795 16 Feb 2016 Finding Intralobar nephrogenic rest Human Phenotype Ontology C1319016 HP:0012783 16 Feb 2016 Finding Intralobar sequestration Human Phenotype Ontology C4023627 HP:0010961 16 Feb 2016 Finding Intralobular interstitial thickening Human Phenotype Ontology C4476636 HP:0025176 02 Apr 2017 Finding Intramural coronary arterial course MONDO MONDO:0020424 17 Apr 2020 Disease Intramuscular hemangioma MONDO C0205789 MONDO:0003088 17 Apr 2020 Disease Intramuscular hematoma Human Phenotype Ontology C0240412 HP:0012233 16 Feb 2016 Finding Intramuscular Myxoma Human Phenotype Ontology C1334260 HP:0031461 04 Apr 2018 Finding Intraneural perineurioma MONDO C1370658 MONDO:0015032 17 Apr 2020 Disease Intranuclear cardiomyocyte mitochondria Human Phenotype Ontology C4531187 HP:0031336 04 Apr 2018 Finding Intraocular lymphoma MONDO C0281658 MONDO:0004351 17 Apr 2020 Disease Intraocular medulloepithelioma MONDO C1883694 MONDO:0017050 17 Apr 2020 Disease Intraocular pressure quantitative trait locus NCBI curation C1969085 611522 16 Feb 2016 Disease Intraocular retinoblastoma MONDO C0278717 MONDO:0003077 17 Apr 2020 Disease Intraoperative floppy iris syndrome MONDO C1688637 MONDO:0041775 17 Apr 2020 Disease Intraorbital meningioma MONDO C1334261 MONDO:0002888 17 Apr 2020 Disease Intrapartum fever Human Phenotype Ontology C3829514 HP:0030245 16 Feb 2016 Finding Intrapelvic lymph node leukemic reticuloendotheliosis MONDO C0153831 MONDO:0001607 17 Apr 2020 Disease Intrapulmonary sequestration Human Phenotype Ontology C4023436 HP:0011278 16 Feb 2016 Finding Intrapulmonary shunt Human Phenotype Ontology C0489642 HP:0031225 04 Apr 2018 Finding Intraretinal exudate Human Phenotype Ontology C4024758 HP:0007989 16 Feb 2016 Finding Intraretinal fluid Human Phenotype Ontology C4531067 HP:0031527 04 Apr 2018 Finding Intraretinal hyporeflective spaces on macular OCT Human Phenotype Ontology C4073093 HP:0030623 16 Feb 2016 Finding Intraspinal meningioma MONDO C1334264 MONDO:0001279 17 Apr 2020 Disease Intratesticular abscess Human Phenotype Ontology C0521631 HP:0025038 02 Apr 2017 Finding Intrathoracic kidney vertebral fusion 16 Feb 2016 Disease Intratubular embryonal carcinoma MONDO C1336096 MONDO:0004520 17 Apr 2020 Disease Intrauterine and postnatal growth restriction CN236427 13 May 2016 Finding Intrauterine fetal demise CN231398 16 Feb 2016 Finding Intrauterine fetal demise at 13 weeks gestation 24 Nov 2017 Finding Intrauterine fetal demise MedGen UID:850702 22 Jun 2020 Finding Intrauterine fetal demise of one twin after midgestation Human Phenotype Ontology C4280785 HP:0030753 02 Apr 2017 Finding Intrauterine growth restriction C0015934 16 Feb 2016 Disease Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies CN868259 16 Mar 2018 Disease Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome MONDO CN237586 MONDO:0018573 17 Apr 2020 Disease Intrauterine growth retardation Human Phenotype Ontology C1386048 HP:0001511 16 Feb 2016 Finding Intrauterine growth retardation mandibular malar hypoplasia 16 Feb 2016 Disease Intrauterine growth retardation with increased mitomycin C sensitivity C2931307 600546 16 Feb 2016 Disease Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies NCBI curation C1846009 614732 16 Feb 2016 Disease INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY OMIM C5193036 618336 618336 23 Feb 2019 Disease Intrauterine growth retardation; abnormal maternal serum screening 16 Feb 2016 Finding Intrauterine infections 16 Feb 2016 Disease Intravascular angioleiomyoma MONDO C1334267 MONDO:0002934 17 Apr 2020 Disease Intravascular fasciitis MONDO C0432529 MONDO:0004836 17 Apr 2020 Disease Intravascular large B-cell lymphoma MONDO C0334660 MONDO:0020324 17 Apr 2020 Disease Intravascular papillary endothelial hyperplasia 16 Feb 2016 Disease Intravenous leiomyomatosis MONDO C0346200 MONDO:0003614 17 Apr 2020 Disease Intraventricular arachnoid cyst Human Phenotype Ontology C4022883 HP:0012488 16 Feb 2016 Finding Intraventricular hemorrhage Human Phenotype Ontology C0240059 HP:0030746 02 Apr 2017 Finding Intraventricular meningioma MONDO C1334271 MONDO:0002772 17 Apr 2020 Disease Intrinsic asthma MONDO C0155880 MONDO:0004765 17 Apr 2020 Disease Intrinsic cardiomyopathy MONDO MONDO:0000591 17 Apr 2020 Disease Intrinsic factor and r binder, combined congenital deficiency of NCBI curation C1855721 243320 16 Feb 2016 Disease Intrinsic factor deficiency NCBI curation C1394891 261000 16 Feb 2016 Disease Intrinsic factor deficiency, congenital, susceptibility to NCBI curation 16 Feb 2016 Disease Intrinsic factor, congenital deficiency of 16 Feb 2016 Disease Intrinsic hand muscle atrophy Human Phenotype Ontology C1864716 HP:0008954 16 Feb 2016 Finding Intussusception Human Phenotype Ontology C0021933 HP:0002576 147710 16 Feb 2016 Disease Invasive aspergillosis MONDO C0238013 MONDO:0000240 04 Jun 2020 Infectious disease Invasive Breast Carcinoma NCBI curation C0853879 24 Aug 2018 Disease Invasive carcinoma MONDO C1334274 MONDO:0040677 17 Apr 2020 Disease Invasive ductal and lobular carcinoma MONDO C1334277 MONDO:0005050 17 Apr 2020 Disease Invasive ductal breast carcinoma MONDO MONDO:0004953 17 Apr 2020 Disease Invasive ductal carcinoma 08 May 2020 Finding Invasive ductal carcinoma, Basal 08 May 2020 Finding Invasive ductal carcinoma, grade 1, luminal A 08 May 2020 Finding Invasive ductal carcinoma, grade 2, luminal A 08 May 2020 Finding Invasive ductal carcinoma, grade 3, luminal A 08 May 2020 Finding Invasive ductal carcinoma, grade 3, luminal B 08 May 2020 Finding Invasive ductal carcinoma, grade2, basal 08 May 2020 Finding Invasive ductal carcinoma, grade3, luminal A 08 May 2020 Finding Invasive ductal carcinoma, luminal A 08 May 2020 Finding Invasive hydatidiform mole MONDO C0008493 MONDO:0020549 17 Apr 2020 Disease Invasive Lobular Breast Carcinoma NCBI curation C0279565 24 Aug 2018 Disease Invasive malignant thymoma MONDO C0278846 MONDO:0002592 17 Apr 2020 Disease Invasive non-typhoidal salmonellosis MONDO C4706572 MONDO:0017944 04 Jun 2020 Infectious disease Invasive pneumococcal disease, protection against NCBI curation C1970686 16 Feb 2016 Disease Invasive pneumococcal disease, recurrent isolated OMIM phenotypic series CN228622 PS610799 16 Feb 2016 Disease Invasive pneumococcal disease, recurrent isolated, 1 NCBI curation C1835828 610799 16 Feb 2016 Disease Invasive pneumococcal disease, recurrent isolated, 2 NCBI curation C1845073 300640 16 Feb 2016 Disease Invasive tubular breast carcinoma MONDO C1328544 MONDO:0003936 17 Apr 2020 Disease Inverse Klippel-Trenaunay syndrome MONDO CN204209 MONDO:0018001 17 Apr 2020 Disease Inverse Marcus-Gunn phenomenon MONDO CN207213 MONDO:0020362 17 Apr 2020 Disease Inversion of nipple NCBI curation C0269269 163600 16 Feb 2016 Disease Inverted follicular keratosis MONDO C0334019 MONDO:0006563 17 Apr 2020 Disease Inverted papilloma MONDO C0206721 MONDO:0002537 17 Apr 2020 Disease Inverted transitional cell papilloma MONDO C0334269 MONDO:0003064 17 Apr 2020 Disease Inverted urothelial papilloma MONDO C1334282 MONDO:0021109 17 Apr 2020 Disease inverted V shaped and wide mouth 11 May 2019 Finding Involuntary jerking movements C1854302 16 Feb 2016 Finding Involuntary movements Human Phenotype Ontology C0427086 HP:0004305 16 Feb 2016 Finding Involuntary writhing movements C1845265 16 Feb 2016 Finding Iodine antenatal infection 16 Feb 2016 Disease Iodine contrast allergy Human Phenotype Ontology C4022917 HP:0012394 16 Feb 2016 Finding Iodine hypothyroidism MONDO C0154159 MONDO:0003271 17 Apr 2020 Disease iodothyronine deiodinase type I deficiency NCBI curation 16 Feb 2016 Disease Iodotyrosine deiodination defect C0342195 274800 16 Feb 2016 Disease Iodotyrosyl coupling defect C0342194 274700 16 Feb 2016 Disease Ipsilateral lack of facial sweating Human Phenotype Ontology C4024874 HP:0007451 16 Feb 2016 Finding IQCB1-Related Leber Congenital Amaurosis CN230158 16 Feb 2016 Disease IRF2BPL-related condition 27 Apr 2018 Finding Iridescent posterior subcapsular cataract Human Phenotype Ontology C1864573 HP:0007889 16 Feb 2016 Finding Irido-corneo-trabecular dysgenesis C4310809 604229 16 Feb 2016 Disease Irido-fundal coloboma Human Phenotype Ontology HP:0007748 16 Feb 2016 Finding Iridocorneal endothelial syndrome C1840283 146720 16 Feb 2016 Disease Iridocyclitis Human Phenotype Ontology C0022073 HP:0001094 16 Feb 2016 Finding Iridodonesis Human Phenotype Ontology C0423320 HP:0100693 16 Feb 2016 Finding Iridogoniodysgenesis MONDO CN229286 MONDO:0011119 17 Apr 2020 Disease Iridogoniodysgenesis and skeletal anomalies C1836074 609515 16 Feb 2016 Disease Irinotecan response NCBI curation CN077989 16 Feb 2016 Pharmacological response irinotecan response - Other PharmGKB CN236597 981201713 18 May 2016 Pharmacological response irinotecan response - Toxicity/ADR PharmGKB CN236598 1183704248 18 May 2016 Pharmacological response iris and fundal colobomas CN228390 16 Feb 2016 Finding Iris atrophy Human Phenotype Ontology C0423319 HP:0001089 16 Feb 2016 Finding Iris cancer MONDO C0346372 MONDO:0002658 17 Apr 2020 Disease Iris coloboma Human Phenotype Ontology C0240063 HP:0000612 16 Feb 2016 Finding Iris cyst Human Phenotype Ontology C0271119 HP:0011523 16 Feb 2016 Finding Iris disease MONDO C0022078 MONDO:0002289 17 Apr 2020 Disease Iris dysplasia hypertelorism deafness 16 Feb 2016 Disease Iris flocculi Human Phenotype Ontology C4477072 HP:0500007 04 Apr 2018 Finding Iris hypoperfusion Human Phenotype Ontology C4022812 HP:0012635 16 Feb 2016 Finding Iris hypopigmentation Human Phenotype Ontology C0154920 HP:0007730 16 Feb 2016 Finding Iris hypoplasia with glaucoma MONDO C1839928 MONDO:0010633 308500 22 Apr 2020 Disease Iris melanoma Human Phenotype Ontology C0346373 HP:0011524 16 Feb 2016 Finding Iris neoplasm MONDO C0022079 MONDO:0021224 17 Apr 2020 Disease Iris neovascularization Human Phenotype Ontology C0154916 HP:0011497 16 Feb 2016 Finding Iris nevus Human Phenotype Ontology C0346376 HP:0011525 16 Feb 2016 Finding Iris pattern NCBI curation C1853115 610744 16 Feb 2016 Disease Iris pigment dispersion Human Phenotype Ontology C4022813 HP:0012634 16 Feb 2016 Finding Iris pigment epithelium anomalies NCBI curation C1866608 601616 16 Feb 2016 Disease Iris pigment layer, cleavage of NCBI curation C1840140 147610 16 Feb 2016 Disease iris processes to lens CN228393 16 Feb 2016 Finding Iris spindle cell melanoma MONDO C1334287 MONDO:0004188 17 Apr 2020 Disease Iris transillumination defect Human Phenotype Ontology C1096099 HP:0012805 16 Feb 2016 Finding irises atrophy 04 Dec 2019 Finding Iritis Human Phenotype Ontology C0022081 HP:0001101 16 Feb 2016 Finding Iron accumulation in brain Human Phenotype Ontology C4021076 HP:0012675 16 Feb 2016 Finding Iron accumulation in globus pallidus Human Phenotype Ontology C4022786 HP:0012677 16 Feb 2016 Finding Iron accumulation in substantia nigra Human Phenotype Ontology C4022785 HP:0012678 16 Feb 2016 Finding Iron deficiency anemia Human Phenotype Ontology C0162316 HP:0001891 16 Feb 2016 Disease iron deficiency anemia due to dietary causes C0472714 18 Jan 2019 Finding Iron deposition in globus pallidus CN228287 16 Feb 2016 Finding Iron metabolism disease MONDO C0012715 MONDO:0002279 17 Apr 2020 Disease iron metabolism disorder 14 Mar 2019 Finding Iron Overload C0282193 02 Dec 2016 Disease Iron overload, autosomal dominant NCBI curation C1851316 16 Feb 2016 Disease Irons Bhan syndrome 16 Feb 2016 Disease Irregular acetabular roof Human Phenotype Ontology C1834975 HP:0008833 16 Feb 2016 Finding Irregular articular surfaces of the elbow joints Human Phenotype Ontology C4025489 HP:0003945 16 Feb 2016 Finding Irregular astigmatism MONDO C0152194 MONDO:0001831 17 Apr 2020 Disease Irregular capital femoral epiphysis Human Phenotype Ontology C4020825 HP:0005041 16 Feb 2016 Finding Irregular carpal bones Human Phenotype Ontology C4025401 HP:0004236 16 Feb 2016 Finding Irregular central macular autofluorescence Human Phenotype Ontology C4073100 HP:0030630 16 Feb 2016 Finding Irregular chondrocostal junctions Human Phenotype Ontology C1861199 HP:0006606 16 Feb 2016 Finding Irregular dentition Human Phenotype Ontology C1856765 HP:0040079 16 Feb 2016 Finding Irregular distal femoral epiphysis Human Phenotype Ontology C4025050 HP:0006407 16 Feb 2016 Finding Irregular epiphyses Human Phenotype Ontology C1846449 HP:0010582 16 Feb 2016 Finding Irregular epiphyses of the 2nd finger Human Phenotype Ontology C4024332 HP:0009493 16 Feb 2016 Finding Irregular epiphyses of the 2nd toe Human Phenotype Ontology C4022372 HP:0100049 16 Feb 2016 Finding Irregular epiphyses of the 3rd finger Human Phenotype Ontology C4024378 HP:0009415 16 Feb 2016 Finding Irregular epiphyses of the 3rd toe Human Phenotype Ontology C4022361 HP:0100060 16 Feb 2016 Finding Irregular epiphyses of the 4th finger Human Phenotype Ontology C4024392 HP:0009398 16 Feb 2016 Finding Irregular epiphyses of the 4th toe Human Phenotype Ontology C4022350 HP:0100071 16 Feb 2016 Finding Irregular epiphyses of the 5th finger Human Phenotype Ontology C4024402 HP:0009387 16 Feb 2016 Finding Irregular epiphyses of the 5th toe Human Phenotype Ontology C4022339 HP:0100082 16 Feb 2016 Finding Irregular epiphyses of the distal phalanges of the hand Human Phenotype Ontology C4023948 HP:0010251 16 Feb 2016 Finding Irregular epiphyses of the elbow Human Phenotype Ontology C4025486 HP:0003948 16 Feb 2016 Finding Irregular epiphyses of the hallux Human Phenotype Ontology C4024041 HP:0010118 16 Feb 2016 Finding Irregular epiphyses of the metacarpals Human Phenotype Ontology C4024546 HP:0009190 16 Feb 2016 Finding Irregular epiphyses of the middle phalanges of the hand Human Phenotype Ontology C4023939 HP:0010262 16 Feb 2016 Finding Irregular epiphyses of the phalanges of the hand Human Phenotype Ontology C4021307 HP:0010233 16 Feb 2016 Finding Irregular epiphyses of the proximal phalanges of the hand Human Phenotype Ontology C4023928 HP:0010273 16 Feb 2016 Finding Irregular epiphyses of the toes Human Phenotype Ontology C4023992 HP:0010167 16 Feb 2016 Finding Irregular epiphyses of the upper limbs Human Phenotype Ontology C4025558 HP:0003842 16 Feb 2016 Finding Irregular epiphysis of the 1st metacarpal Human Phenotype Ontology C4024103 HP:0010020 16 Feb 2016 Finding Irregular epiphysis of the 1st metatarsal Human Phenotype Ontology C4024005 HP:0010154 16 Feb 2016 Finding Irregular epiphysis of the distal phalanx of the 2nd finger Human Phenotype Ontology C4024323 HP:0009507 16 Feb 2016 Finding Irregular epiphysis of the distal phalanx of the 2nd toe Human Phenotype Ontology C4022316 HP:0100105 16 Feb 2016 Finding Irregular epiphysis of the distal phalanx of the 3rd finger Human Phenotype Ontology C4024427 HP:0009340 16 Feb 2016 Finding Irregular epiphysis of the distal phalanx of the 3rd toe Human Phenotype Ontology C4022281 HP:0100140 16 Feb 2016 Finding Irregular epiphysis of the distal phalanx of the 4th finger Human Phenotype Ontology C4024492 HP:0009255 16 Feb 2016 Finding Irregular epiphysis of the distal phalanx of the 4th toe Human Phenotype Ontology C4022247 HP:0100174 16 Feb 2016 Finding Irregular epiphysis of the distal phalanx of the 5th finger Human Phenotype Ontology C4024561 HP:0009167 16 Feb 2016 Finding Irregular epiphysis of the distal phalanx of the 5th toe Human Phenotype Ontology C4022214 HP:0100207 16 Feb 2016 Finding Irregular epiphysis of the distal phalanx of the hallux Human Phenotype Ontology C4024016 HP:0010143 16 Feb 2016 Finding Irregular epiphysis of the distal phalanx of the thumb Human Phenotype Ontology C4024239 HP:0009680 16 Feb 2016 Finding Irregular epiphysis of the middle phalanx of the 2nd finger Human Phenotype Ontology C4024315 HP:0009518 16 Feb 2016 Finding Irregular epiphysis of the middle phalanx of the 2nd toe Human Phenotype Ontology C4022305 HP:0100116 16 Feb 2016 Finding Irregular epiphysis of the middle phalanx of the 3rd finger Human Phenotype Ontology C4024439 HP:0009326 16 Feb 2016 Finding Irregular epiphysis of the middle phalanx of the 3rd toe Human Phenotype Ontology C4022270 HP:0100151 16 Feb 2016 Finding Irregular epiphysis of the middle phalanx of the 4th finger Human Phenotype Ontology C4024522 HP:0009219 16 Feb 2016 Finding Irregular epiphysis of the middle phalanx of the 4th toe Human Phenotype Ontology C4022236 HP:0100185 16 Feb 2016 Finding Irregular epiphysis of the middle phalanx of the 5th finger Human Phenotype Ontology C4024532 HP:0009208 16 Feb 2016 Finding Irregular epiphysis of the middle phalanx of the 5th toe Human Phenotype Ontology C4022203 HP:0100218 16 Feb 2016 Finding Irregular epiphysis of the proximal phalanx of the 2nd finger Human Phenotype Ontology C4024307 HP:0009529 16 Feb 2016 Finding Irregular epiphysis of the proximal phalanx of the 2nd toe Human Phenotype Ontology C4022294 HP:0100127 16 Feb 2016 Finding Irregular epiphysis of the proximal phalanx of the 3rd finger Human Phenotype Ontology C4024418 HP:0009351 16 Feb 2016 Finding Irregular epiphysis of the proximal phalanx of the 3rd toe Human Phenotype Ontology C4022259 HP:0100162 16 Feb 2016 Finding Irregular epiphysis of the proximal phalanx of the 4th finger Human Phenotype Ontology C4024483 HP:0009266 16 Feb 2016 Finding Irregular epiphysis of the proximal phalanx of the 4th toe Human Phenotype Ontology C4022225 HP:0100196 16 Feb 2016 Finding Irregular epiphysis of the proximal phalanx of the 5th finger Human Phenotype Ontology C4024541 HP:0009199 16 Feb 2016 Finding Irregular epiphysis of the proximal phalanx of the 5th toe Human Phenotype Ontology C4022192 HP:0100229 16 Feb 2016 Finding Irregular epiphysis of the proximal phalanx of the hallux Human Phenotype Ontology C4024027 HP:0010132 16 Feb 2016 Finding Irregular epiphysis of the proximal phalanx of the thumb Human Phenotype Ontology C4024248 HP:0009669 16 Feb 2016 Finding irregular eye movement 05 Sep 2019 Finding Irregular femoral epiphysis Human Phenotype Ontology C1850658 HP:0006361 16 Feb 2016 Finding Irregular humeral epiphyses Human Phenotype Ontology C4025524 HP:0003896 16 Feb 2016 Finding Irregular hyperpigmentation Human Phenotype Ontology C1860236 HP:0007400 16 Feb 2016 Finding Irregular hyperpigmentation of back Human Phenotype Ontology C4024854 HP:0007521 16 Feb 2016 Finding Irregular iliac crest Human Phenotype Ontology C1855180 HP:0003796 16 Feb 2016 Finding irregular menstrual cycle 05 Sep 2019 Finding Irregular metacarpals Human Phenotype Ontology C4025086 HP:0006160 16 Feb 2016 Finding Irregular myelin loops Human Phenotype Ontology C4024922 HP:0007208 16 Feb 2016 Finding Irregular olecranon Human Phenotype Ontology C4025428 HP:0004034 16 Feb 2016 Finding Irregular ossification at anterior rib ends Human Phenotype Ontology C1850083 HP:0006598 16 Feb 2016 Finding Irregular ossification of hand bones Human Phenotype Ontology C4025374 HP:0004280 16 Feb 2016 Finding Irregular ossification of humeral metaphyses Human Phenotype Ontology C4025513 HP:0003914 16 Feb 2016 Finding Irregular ossification of the humeral epiphyses Human Phenotype Ontology C4025523 HP:0003897 16 Feb 2016 Finding Irregular ossification of the radial metaphysis Human Phenotype Ontology C4025440 HP:0004020 16 Feb 2016 Finding Irregular patellae Human Phenotype Ontology C1836870 HP:0006369 16 Feb 2016 Finding Irregular phalanges Human Phenotype Ontology C4025081 HP:0006205 16 Feb 2016 Finding Irregular proximal tibial epiphyses Human Phenotype Ontology C4025045 HP:0006456 16 Feb 2016 Finding Irregular radial epiphyses Human Phenotype Ontology C4025453 HP:0004004 16 Feb 2016 Finding Irregular respiration Human Phenotype Ontology C0425492 HP:0012195 16 Feb 2016 Finding Irregular sclerosis of hand bones Human Phenotype Ontology C4025373 HP:0004281 16 Feb 2016 Finding Irregular sclerotic endplates Human Phenotype Ontology C1868554 HP:0008476 16 Feb 2016 Finding Irregular septal thickening on pulmonary HRCT Human Phenotype Ontology C4476635 HP:0025174 04 Apr 2018 Finding Irregular tarsal bones Human Phenotype Ontology C1855240 HP:0004688 16 Feb 2016 Finding Irregular tarsal ossification Human Phenotype Ontology C4021554 HP:0008134 16 Feb 2016 Finding Irregular thumb epiphysis Human Phenotype Ontology C4021404 HP:0009691 16 Feb 2016 Finding Irregular vertebral endplates Human Phenotype Ontology C1842153 HP:0003301 16 Feb 2016 Finding Irregular, rachitic-like metaphyses Human Phenotype Ontology C1866700 HP:0005042 16 Feb 2016 Finding Irregularity of vertebral bodies Human Phenotype Ontology C4025311 HP:0004582 16 Feb 2016 Finding Irregularly spaced teeth Human Phenotype Ontology C1845878 HP:0006316 16 Feb 2016 Finding Irritability Human Phenotype Ontology C2700617 HP:0000737 16 Feb 2016 Finding Irritable bowel syndrome MONDO C0022104 MONDO:0005052 17 Apr 2020 Disease Irritant dermatitis MONDO C0162823 MONDO:0006564 17 Apr 2020 Disease IRVAN syndrome MONDO C3665812 MONDO:0016205 17 Apr 2020 Disease Isaac's syndrome C0242287 16 Feb 2016 Disease Ischemia reperfusion injury MONDO MONDO:0005203 17 Apr 2020 Disease Ischemic bowel disease MONDO MONDO:0020675 17 Apr 2020 Disease Ischemic colitis MONDO C0162529 MONDO:0000701 17 Apr 2020 Disease Ischemic disease MONDO MONDO:0005053 17 Apr 2020 Disease Ischemic fasciitis MONDO C1304514 MONDO:0004834 17 Apr 2020 Disease Ischemic heart disease, susceptibility to NCBI curation 16 Feb 2016 Disease Ischemic neuropathy MONDO C0238309 MONDO:0001408 17 Apr 2020 Disease Ischemic stroke Human Phenotype Ontology C0948008 HP:0002140 601367 16 Feb 2016 Disease Ischemic stroke, susceptibility to NCBI curation 16 Feb 2016 Disease Ischiadic hypoplasia renal dysfunction immunodeficiency 16 Feb 2016 Disease Islet cell adenomatosis NCBI curation C1578917 147630 16 Feb 2016 Disease Islet cell hyperplasia C2931833 601820 16 Feb 2016 Disease Islets of langerhans, absence of NCBI curation 16 Feb 2016 Disease Isochromosome Y MONDO CN229250 MONDO:0019935 17 Apr 2020 Disease Isochromosomy Yp MONDO C4707793 MONDO:0020304 17 Apr 2020 Disease Isochromosomy Yq MONDO C4749291 MONDO:0020305 17 Apr 2020 Disease Isocyanate induced asthma MONDO C1321273 MONDO:0025556 17 Apr 2020 Disease Isoflurane response CN263358 10 Mar 2020 Pharmacological response isoflurane response - Toxicity/ADR PharmGKB 1447676001PA450106 28 Jun 2019 Pharmacological response Isolated 17,20-lyase deficiency NCBI curation C3277849 16 Feb 2016 Disease Isolated 17-Linked Lissencephaly CN229786 16 Feb 2016 Disease Isolated agammaglobulinemia MONDO C4707181 MONDO:0016462 17 Apr 2020 Disease Isolated amyelia MONDO CN227075 MONDO:0017088 17 Apr 2020 Disease Isolated anophthalmia-microphthalmia syndrome CN257736 17 Oct 2018 Disease Isolated anorectal malformation MONDO CN227551 MONDO:0018916 17 Apr 2020 Disease Isolated anterior cervical hypertrichosis MONDO C1838123 MONDO:0010887 600457 17 Apr 2020 Disease Isolated asymptomatic elevation of creatine phosphokinase MONDO C4751434 MONDO:0016103 17 Apr 2020 Disease Isolated autosomal dominant hypomagnesemia, Glaudemans type MONDO C4305155 MONDO:0016048 17 Apr 2020 Disease Isolated bilateral hemispheric cerebellar hypoplasia MONDO C4749791 MONDO:0017113 17 Apr 2020 Disease Isolated blepharochalasis MONDO CN258739 MONDO:0033809 17 Apr 2020 Disease Isolated bone marrow mastocytosis MONDO C4509020 MONDO:0015558 17 Apr 2020 Disease Isolated cerebellar vermis agenesis MONDO CN227083 MONDO:0017107 17 Apr 2020 Disease Isolated cerebellar vermis hypoplasia MONDO C4707794 MONDO:0016053 17 Apr 2020 Disease Isolated congenital alacrima MONDO C4273963 MONDO:0019627 17 Apr 2020 Disease Isolated congenital auditory ossicle malformation MONDO CN199934 MONDO:0015570 17 Apr 2020 Disease Isolated congenital ectropion MONDO CN207326 MONDO:0020463 17 Apr 2020 Disease Isolated congenital hypogonadotropic hypogonadism Orphanet CN924907 ORPHA238666 08 Apr 2018 Disease Isolated congenital microcephaly MONDO C0025958 MONDO:0016056 17 Apr 2020 Disease Isolated congenital nasal pyriform aperture stenosis MONDO CN226701 MONDO:0015568 17 Apr 2020 Disease Isolated congenital syngnathia MONDO C4706392 MONDO:0015409 17 Apr 2020 Disease Isolated congenitally uncorrected transposition of the great arteries MONDO CN201101 MONDO:0016302 17 Apr 2020 Disease Isolated constitutional thrombocytopenia MONDO CN776866 MONDO:0018796 17 Apr 2020 Disease Isolated coronal synostosis NCBI curation CN043619 16 Feb 2016 Disease Isolated craniosynostosis MONDO CN228925 MONDO:0015337 17 Apr 2020 Disease Isolated Dandy-Walker malformation with hydrocephalus MONDO CN202463 MONDO:0017110 17 Apr 2020 Disease Isolated Dandy-Walker malformation without hydrocephalus MONDO CN202464 MONDO:0017111 17 Apr 2020 Disease Isolated delta-storage pool disease MONDO CN201837 MONDO:0016630 17 Apr 2020 Disease Isolated diffuse palmoplantar keratoderma MONDO CN229099 MONDO:0017667 17 Apr 2020 Disease Isolated dystonia MONDO CN228957 MONDO:0015494 17 Apr 2020 Disease Isolated encephalocele MONDO CN776867 MONDO:0016057 17 Apr 2020 Disease Isolated focal cortical dysplasia MONDO C4707795 MONDO:0019009 17 Apr 2020 Disease Isolated focal cortical dysplasia type I MONDO CN202452 MONDO:0017095 17 Apr 2020 Disease Isolated focal cortical dysplasia type Ia MONDO CN202453 MONDO:0017096 17 Apr 2020 Disease Isolated focal cortical dysplasia type Ib MONDO CN202454 MONDO:0017097 17 Apr 2020 Disease Isolated focal cortical dysplasia type Ic MONDO CN202455 MONDO:0017098 17 Apr 2020 Disease Isolated focal cortical dysplasia type IIa Orphanet C1846386 ORPHA269001 06 Sep 2016 Disease Isolated focal cortical dysplasia type IIb MONDO CN202460 MONDO:0017102 17 Apr 2020 Disease Isolated focal palmoplantar keratoderma MONDO CN229102 MONDO:0017673 17 Apr 2020 Disease isolated follicle-stimulating hormone deficiency CN221143 16 Feb 2016 Finding Isolated genetic hair shaft abnormality MONDO CN261814 MONDO:0019281 17 Apr 2020 Disease Isolated GnRH Deficiency CN239347 02 Dec 2016 Disease Isolated growth hormone deficiency OMIM phenotypic series PS262400 21 Dec 2019 Disease Isolated growth hormone deficiency type 1B C2748571 612781 16 Feb 2016 Disease Isolated growth hormone deficiency, type 4 MONDO C4722273 MONDO:0032567 618157 28 May 2020 Disease Isolated growth hormone deficiency, type 5 MONDO C4748435 MONDO:0032569 618160 28 May 2020 Disease Isolated hand syndactyly 07 Apr 2020 Disease Isolated hemihyperplasia NCBI curation C1856184 235000 16 Feb 2016 Disease Isolated hereditary giant platelet disorder MONDO CN226911 MONDO:0016361 17 Apr 2020 Disease Isolated hyperCKaemia,Long QT syndrome CN231075 16 Feb 2016 Disease Isolated Hyperparathyroidism CN239442 02 Dec 2016 Disease isolated hypomyelination CN852728 09 Mar 2018 Disease Isolated iridoschisis MONDO CN258743 MONDO:0033810 17 Apr 2020 Disease Isolated lissencephaly type 1 without known genetic defect NCBI curation C4275151 26 May 2020 Disease Isolated lutropin deficiency C0271582 228300 16 Feb 2016 Disease Isolated macular dystrophy CN273086 25 Feb 2020 Finding Isolated Methylmalonic Acidemia CN868254 16 Mar 2018 Disease Isolated microcephaly MONDO MONDO:0043137 17 Apr 2020 Disease Isolated micropenis MONDO CN206795 MONDO:0019849 17 Apr 2020 Disease Isolated microphthalmia NCBI curation CN263237 02 Feb 2020 Disease Isolated nail anomaly Orphanet CN353478 ORPHA79369 30 Jul 2017 Disease Isolated Nonsyndromic Congenital Heart Disease CN239319 02 Dec 2016 Disease Isolated Nonsyndromic Congenital Heart Disease/Defects CN118843 16 Feb 2016 Disease Isolated optic neuritis MONDO MONDO:0044688 17 Apr 2020 Disease Isolated oxidative phosphorylation complex disorder MONDO CN227005 MONDO:0016805 17 Apr 2020 Disease Isolated partial cerebellar vermis agenesis MONDO CN227085 MONDO:0017109 17 Apr 2020 Disease Isolated partial vaginal agenesis MONDO C1261251 MONDO:0019932 17 Apr 2020 Disease Isolated plagiocephaly MONDO CN204475 MONDO:0018113 17 Apr 2020 Disease Isolated prolactin deficiency C0271586 264110 16 Feb 2016 Disease Isolated pulmonary capillaritis MONDO C3873357 MONDO:0017018 17 Apr 2020 Disease Isolated punctate palmoplantar keratoderma MONDO CN201560 MONDO:0016518 17 Apr 2020 Disease Isolated right ventricular hypoplasia MONDO C1848587 MONDO:0010179 277200 17 Apr 2020 Disease Isolated splenogonadal fusion MONDO CN242095 MONDO:0018703 17 Apr 2020 Disease Isolated total cerebellar vermis agenesis MONDO CN227084 MONDO:0017108 17 Apr 2020 Disease Isolated unilateral hemispheric cerebellar hypoplasia C4707885 29 May 2019 Finding Isometric tremor Human Phenotype Ontology C4022594 HP:0030185 16 Feb 2016 Finding Isoniazid response CN078007 16 Feb 2016 Pharmacological response Isoproterenol-mediated vasodilatation NCBI curation C1833276 600801 16 Feb 2016 Disease Isosexual precocious puberty Human Phenotype Ontology C0271528 HP:0008236 16 Feb 2016 Finding Isosorbide response CN077990 16 Feb 2016 Pharmacological response Isosporiasis C0311386 16 Feb 2016 Infectious disease Isothenuria Human Phenotype Ontology C4022665 HP:0030036 16 Feb 2016 Finding Isotretinoin syndrome MONDO C2930972 MONDO:0016467 17 Apr 2020 Disease Isotretinoin-like syndrome MONDO C0432364 MONDO:0009473 243440 17 Apr 2020 Disease Isovaleric acid, inability to smell NCBI curation C1855714 243450 16 Feb 2016 Disease Isovaleric acidemia, type I NCBI curation C4017056 10 Feb 2018 Disease Isovaleric acidemia, type II NCBI curation C4017842 10 Feb 2018 Disease Isovaleric acidemia, type III NCBI curation C4017057 10 Feb 2018 Disease Isovaleryl-CoA dehydrogenase deficiency C0268575 243500 16 Feb 2016 Disease ISPD-Related Disorder 29 Aug 2019 Disease Israel 30 Aug 2017 Finding Israeli tick typhus MONDO CN281908 MONDO:0000230 04 Jun 2020 Infectious disease Isthmian coarctation 16 Feb 2016 Disease ITM2B amyloidosis MONDO C0268393 MONDO:0018591 17 Apr 2020 Disease ITPR1-associated cerebellar ataxia spectrum disorder 21 Aug 2018 Disease ITPR1-related syndromic and non-syndromic hereditary ataxias 21 May 2020 Disease IUGR CN235083 16 Feb 2016 Finding ivacaftor / lumacaftor response - Efficacy PharmGKB CN240582 1447979749 17 Feb 2017 Pharmacological response Ivacaftor response NCBI curation CN185459 06 Jul 2018 Pharmacological response ivacaftor response - Efficacy PharmGKB CN236562 1183960318 18 May 2016 Pharmacological response IVIC syndrome C1327918 147750 16 Feb 2016 Disease Ivory epiphyses Human Phenotype Ontology C1856911 HP:0010583 16 Feb 2016 Finding Ivory epiphyses of the 2nd finger Human Phenotype Ontology C4024331 HP:0009494 16 Feb 2016 Finding Ivory epiphyses of the 2nd toe Human Phenotype Ontology C4022371 HP:0100050 16 Feb 2016 Finding Ivory epiphyses of the 3rd finger Human Phenotype Ontology C4024377 HP:0009416 16 Feb 2016 Finding Ivory epiphyses of the 3rd toe Human Phenotype Ontology C4022360 HP:0100061 16 Feb 2016 Finding Ivory epiphyses of the 4th finger Human Phenotype Ontology C4024391 HP:0009399 16 Feb 2016 Finding Ivory epiphyses of the 4th toe Human Phenotype Ontology C4022349 HP:0100072 16 Feb 2016 Finding Ivory epiphyses of the 5th finger Human Phenotype Ontology C4024401 HP:0009388 16 Feb 2016 Finding Ivory epiphyses of the 5th toe Human Phenotype Ontology C4022338 HP:0100083 16 Feb 2016 Finding Ivory epiphyses of the distal phalanges of the hand Human Phenotype Ontology C4021301 HP:0010252 16 Feb 2016 Finding Ivory epiphyses of the hallux Human Phenotype Ontology C4024040 HP:0010119 16 Feb 2016 Finding Ivory epiphyses of the metacarpals Human Phenotype Ontology C4024545 HP:0009191 16 Feb 2016 Finding Ivory epiphyses of the middle phalanges of the hand Human Phenotype Ontology C4023938 HP:0010263 16 Feb 2016 Finding Ivory epiphyses of the phalanges of the hand Human Phenotype Ontology C1857651 HP:0010234 16 Feb 2016 Finding Ivory epiphyses of the proximal phalanges of the hand Human Phenotype Ontology C4023927 HP:0010274 16 Feb 2016 Finding Ivory epiphyses of the toes Human Phenotype Ontology C4023991 HP:0010168 16 Feb 2016 Finding Ivory epiphysis of the 1st metacarpal Human Phenotype Ontology C4024102 HP:0010021 16 Feb 2016 Finding Ivory epiphysis of the 1st metatarsal Human Phenotype Ontology C4024004 HP:0010155 16 Feb 2016 Finding Ivory epiphysis of the distal phalanx of the 2nd finger Human Phenotype Ontology C4021460 HP:0009508 16 Feb 2016 Finding Ivory epiphysis of the distal phalanx of the 2nd toe Human Phenotype Ontology C4022315 HP:0100106 16 Feb 2016 Finding Ivory epiphysis of the distal phalanx of the 3rd finger Human Phenotype Ontology C4024426 HP:0009341 16 Feb 2016 Finding Ivory epiphysis of the distal phalanx of the 3rd toe Human Phenotype Ontology C4022280 HP:0100141 16 Feb 2016 Finding Ivory epiphysis of the distal phalanx of the 4th finger Human Phenotype Ontology C4024491 HP:0009256 16 Feb 2016 Finding Ivory epiphysis of the distal phalanx of the 4th toe Human Phenotype Ontology C4022246 HP:0100175 16 Feb 2016 Finding Ivory epiphysis of the distal phalanx of the 5th finger Human Phenotype Ontology C4021674 HP:0004223 16 Feb 2016 Finding Ivory epiphysis of the distal phalanx of the 5th toe Human Phenotype Ontology C4022213 HP:0100208 16 Feb 2016 Finding Ivory epiphysis of the distal phalanx of the hallux Human Phenotype Ontology C4024015 HP:0010144 16 Feb 2016 Finding Ivory epiphysis of the distal phalanx of the thumb Human Phenotype Ontology C4024238 HP:0009681 16 Feb 2016 Finding Ivory epiphysis of the middle phalanx of the 2nd finger Human Phenotype Ontology C4024314 HP:0009519 16 Feb 2016 Finding Ivory epiphysis of the middle phalanx of the 2nd toe Human Phenotype Ontology C4022304 HP:0100117 16 Feb 2016 Finding Ivory epiphysis of the middle phalanx of the 3rd finger Human Phenotype Ontology C4024438 HP:0009327 16 Feb 2016 Finding Ivory epiphysis of the middle phalanx of the 3rd toe Human Phenotype Ontology C4022269 HP:0100152 16 Feb 2016 Finding Ivory epiphysis of the middle phalanx of the 4th finger Human Phenotype Ontology C4024521 HP:0009220 16 Feb 2016 Finding Ivory epiphysis of the middle phalanx of the 4th toe Human Phenotype Ontology C4022235 HP:0100186 16 Feb 2016 Finding Ivory epiphysis of the middle phalanx of the 5th finger Human Phenotype Ontology C4024531 HP:0009209 16 Feb 2016 Finding Ivory epiphysis of the middle phalanx of the 5th toe Human Phenotype Ontology C4022202 HP:0100219 16 Feb 2016 Finding Ivory epiphysis of the proximal phalanx of the 2nd finger Human Phenotype Ontology C4024306 HP:0009530 16 Feb 2016 Finding Ivory epiphysis of the proximal phalanx of the 2nd toe Human Phenotype Ontology C4022293 HP:0100128 16 Feb 2016 Finding Ivory epiphysis of the proximal phalanx of the 3rd finger Human Phenotype Ontology C4024417 HP:0009352 16 Feb 2016 Finding Ivory epiphysis of the proximal phalanx of the 3rd toe Human Phenotype Ontology C4022258 HP:0100163 16 Feb 2016 Finding Ivory epiphysis of the proximal phalanx of the 4th finger Human Phenotype Ontology C4024482 HP:0009267 16 Feb 2016 Finding Ivory epiphysis of the proximal phalanx of the 4th toe Human Phenotype Ontology C4022224 HP:0100197 16 Feb 2016 Finding Ivory epiphysis of the proximal phalanx of the 5th finger Human Phenotype Ontology C4024567 HP:0009157 16 Feb 2016 Finding Ivory epiphysis of the proximal phalanx of the 5th toe Human Phenotype Ontology C4022191 HP:0100230 16 Feb 2016 Finding Ivory epiphysis of the proximal phalanx of the hallux Human Phenotype Ontology C4024026 HP:0010133 16 Feb 2016 Finding Ivory epiphysis of the proximal phalanx of the thumb Human Phenotype Ontology C4024247 HP:0009670 16 Feb 2016 Finding Ivory epiphysis of the thumb Human Phenotype Ontology C4021403 HP:0009692 16 Feb 2016 Finding J wave Human Phenotype Ontology C4018858 HP:0012272 16 Feb 2016 Finding J-shaped sella turcica Human Phenotype Ontology C1854718 HP:0002680 16 Feb 2016 Finding JABERI-ELAHI SYNDROME OMIM C4693848 617988 617988 24 May 2018 Disease Jaccoud syndrome MONDO C0152084 MONDO:0001629 17 Apr 2020 Disease Jackson-Weiss syndrome C0795998 123150 16 Feb 2016 Disease Jaffer-Beighton syndrome MONDO C2931533 MONDO:0023510 22 Apr 2020 Disease Jakob-Creutzfeldt disease C0022336 123400 16 Feb 2016 Disease Jalili syndrome MONDO C3495589 MONDO:0009007 217080 17 Apr 2020 Disease Jamaican vomiting sickness 16 Feb 2016 Disease Jamais vu Human Phenotype Ontology C0233803 HP:0012006 16 Feb 2016 Finding Janus kinase-3 deficiency MONDO MONDO:0005511 17 Apr 2020 Disease Japanese encephalitis virus disease C0014057 16 Feb 2016 Infectious disease Japanese spotted fever MONDO C2108396 MONDO:0000233 04 Jun 2020 Infectious disease Jarcho-Levin syndrome NCBI curation C0265343 16 Feb 2016 Disease Jaundice Human Phenotype Ontology C0022346 HP:0000952 16 Feb 2016 Finding Jaundice, familial obstructive, of infancy NCBI curation C1839927 308600 16 Feb 2016 Disease Jaw ankylosis Human Phenotype Ontology C4280688 HP:0040263 02 Apr 2017 Finding jaw asymmetry 05 Sep 2019 Finding Jaw cancer MONDO MONDO:0002131 17 Apr 2020 Disease Jaw claudication Human Phenotype Ontology C0239064 HP:0030164 16 Feb 2016 Finding Jaw fracture MONDO MONDO:0100075 17 Apr 2020 Disease Jaw hyporeflexia Human Phenotype Ontology C4022918 HP:0012392 16 Feb 2016 Finding Jaw neoplasm Human Phenotype Ontology C0022364 HP:0030792 02 Apr 2017 Finding Jaw pain Human Phenotype Ontology C0236000 HP:0040264 02 Apr 2017 Finding jaw size abnormality 05 Sep 2019 Finding Jaw swelling Human Phenotype Ontology C4280766 HP:0030793 02 Apr 2017 Finding Jaw-winking syndrome NCBI curation C0266521 154600 16 Feb 2016 Disease Jeavons syndrome MONDO C4274731 MONDO:0015346 17 Apr 2020 Disease Jeb-i NCBI curation 16 Feb 2016 Disease Jejunal adenocarcinoma Human Phenotype Ontology C4072935 HP:0030411 16 Feb 2016 Finding Jejunal arteriovenous malformation Human Phenotype Ontology C4531182 HP:0031343 04 Apr 2018 Finding Jejunal atresia Human Phenotype Ontology C0266175 HP:0005235 243600 16 Feb 2016 Disease Jejunal atresia with renal adysplasia C1865209 602551 16 Feb 2016 Disease Jejunal cancer MONDO C0153427 MONDO:0006815 17 Apr 2020 Disease Jejunal diverticula Human Phenotype Ontology C4025293 HP:0004786 16 Feb 2016 Finding Jejunal neoplasm MONDO C0022374 MONDO:0002564 17 Apr 2020 Disease Jejunal neuroendocrine tumor G1 MONDO C1334296 MONDO:0006257 17 Apr 2020 Disease Jejunal neuroendocrine tumor, well differentiated, low or intermediate grade MONDO C4525626 MONDO:0015064 17 Apr 2020 Disease Jejunal somatostatinoma MONDO C1334297 MONDO:0002563 17 Apr 2020 Disease Jejunoileal diverticula Human Phenotype Ontology C4025290 HP:0004799 16 Feb 2016 Finding Jejunoileal ulceration Human Phenotype Ontology C4025232 HP:0005229 16 Feb 2016 Finding Jerk-locked premyoclonus spikes Human Phenotype Ontology C3552825 HP:0001351 16 Feb 2016 Finding Jerky head movements Human Phenotype Ontology C1855568 HP:0006961 16 Feb 2016 Finding Jerky ocular pursuit movements Human Phenotype Ontology C1853558 HP:0008003 16 Feb 2016 Finding Jervell and Lange-Nielsen syndrome OMIM phenotypic series C0022387 PS220400 16 Feb 2016 Disease Jervell and Lange-Nielsen syndrome 1 NCBI curation C4551509 220400 16 Feb 2016 Disease Jervell and Lange-Nielsen syndrome 2 C2676723 612347 16 Feb 2016 Disease Jessner lymphocytic infiltration of the skin MONDO C0580181 MONDO:0018051 17 Apr 2020 Disease Jeune syndrome situs inversus C2931535 16 Feb 2016 Disease Jeune thoracic dystrophy C0265275 16 Feb 2016 Disease Jittery newborn C0233253 18 Jan 2019 Finding Jk-null variant NCBI curation 16 Feb 2016 Disease Jk-null variant, finnish type NCBI curation 16 Feb 2016 Disease Johanson-Blizzard syndrome C0175692 243800 16 Feb 2016 Disease John Milton Hagen blood group system NCBI curation C3553633 614745 16 Feb 2016 Blood group Johnson Hall Krous syndrome 16 Feb 2016 Disease Johnson neuroectodermal syndrome C0796002 147770 16 Feb 2016 Disease Joint contracture of the 3rd finger Human Phenotype Ontology C4021492 HP:0009319 16 Feb 2016 Finding Joint contracture of the 4th finger Human Phenotype Ontology C4021504 HP:0009274 16 Feb 2016 Finding Joint contracture of the 5th finger Human Phenotype Ontology C1865702 HP:0009183 16 Feb 2016 Finding Joint contracture of the hand Human Phenotype Ontology C0158113 HP:0009473 16 Feb 2016 Finding joint contractures at the knee, fingers, elbow and shoulder 13 Feb 2020 Finding Joint contractures involving the joints of the feet Human Phenotype Ontology C4022042 HP:0100492 16 Feb 2016 Finding Joint derangement C0158140 18 Jan 2019 Finding Joint dislocation Human Phenotype Ontology C0012691 HP:0001373 16 Feb 2016 Finding Joint formation defects MONDO CN203179 MONDO:0017429 17 Apr 2020 Disease Joint hemorrhage Human Phenotype Ontology C0018924 HP:0005261 16 Feb 2016 Finding Joint hyperflexibility Human Phenotype Ontology C3553764 HP:0005692 16 Feb 2016 Finding Joint hypermobility Human Phenotype Ontology C1844820 HP:0001382 16 Feb 2016 Finding Joint laxity Human Phenotype Ontology C0086437 HP:0001388 16 Feb 2016 Finding Joint laxity (fingers) CN235285 20 Feb 2016 Finding JOINT LAXITY, SHORT STATURE, AND MYOPIA OMIM C4540020 617662 617662 10 Sep 2017 Disease Joint pain of pelvic region 19 Jul 2018 Finding Joint stiffness Human Phenotype Ontology C0162298 HP:0001387 16 Feb 2016 Finding Joint swelling Human Phenotype Ontology C0152031 HP:0001386 16 Feb 2016 Finding Joint swelling onset late infancy 16 Feb 2016 Finding Jones Hersh Yusk syndrome C2931054 16 Feb 2016 Disease Jorgenson Lenz syndrome 16 Feb 2016 Disease Joubert syndrome OMIM phenotypic series C0431399 PS213300 28 Mar 2017 Disease Joubert syndrome 1 NCBI curation C4551568 213300 16 Feb 2016 Disease Joubert syndrome 10 NCBI curation C2749019 300804 16 Feb 2016 Disease Joubert syndrome 11 NCBI curation C3279203 16 Feb 2016 Disease Joubert syndrome 12 NCBI curation C3277723 16 Feb 2016 Disease Joubert syndrome 12/15, digenic NCBI curation C3280899 16 Feb 2016 Disease Joubert syndrome 13 NCBI curation C3280031 614173 16 Feb 2016 Disease Joubert syndrome 14 NCBI curation C3280766 614424 16 Feb 2016 Disease Joubert syndrome 15 NCBI curation C3280897 614464 16 Feb 2016 Disease Joubert syndrome 16 NCBI curation C3280906 614465 16 Feb 2016 Disease Joubert syndrome 17 NCBI curation C3553264 614615 16 Feb 2016 Disease Joubert syndrome 18 NCBI curation C3553758 614815 16 Feb 2016 Disease Joubert syndrome 19 NCBI curation C3553846 16 Feb 2016 Disease Joubert syndrome 2 C1842577 608091 16 Feb 2016 Disease Joubert syndrome 20 NCBI curation C3554235 614970 16 Feb 2016 Disease Joubert syndrome 21 NCBI curation C3810212 615636 16 Feb 2016 Disease Joubert syndrome 22 NCBI curation C3810278 615665 16 Feb 2016 Disease Joubert syndrome 23 NCBI curation C4084822 616490 16 Feb 2016 Disease Joubert syndrome 24 NCBI curation C4084841 616654 16 Feb 2016 Disease Joubert syndrome 25 NCBI curation C4084842 616781 16 Feb 2016 Disease Joubert syndrome 26 NCBI curation C4084843 616784 16 Feb 2016 Disease Joubert syndrome 27 NCBI curation C4310706 617120 20 Jun 2017 Disease Joubert syndrome 28 NCBI curation C4310705 617121 20 Jun 2017 Disease JOUBERT SYNDROME 29 CN317537 15 Jul 2017 Disease Joubert syndrome 3 NCBI curation C1837713 608629 16 Feb 2016 Disease JOUBERT SYNDROME 30 OMIM C4539937 617622 617622 17 Aug 2017 Disease JOUBERT SYNDROME 31 OMIM C4540355 617761 617761 08 Nov 2017 Disease JOUBERT SYNDROME 32 OMIM C4540342 617757 617757 09 Nov 2017 Disease JOUBERT SYNDROME 33 OMIM C4540389 617767 617767 11 Nov 2017 Disease JOUBERT SYNDROME 34 CN620433 17 Nov 2017 Disease JOUBERT SYNDROME 35 OMIM C4748442 618161 618161 01 Nov 2018 Disease JOUBERT SYNDROME 36 OMIM C5231493 618763 618763 06 Feb 2020 Disease Joubert syndrome 4 NCBI curation C1846790 609583 16 Feb 2016 Disease Joubert syndrome 5 NCBI curation C1857780 610188 16 Feb 2016 Disease Joubert syndrome 6 NCBI curation C1853153 610688 16 Feb 2016 Disease Joubert syndrome 7 NCBI curation C1969053 611560 16 Feb 2016 Disease Joubert syndrome 8 NCBI curation C2676771 612291 16 Feb 2016 Disease Joubert syndrome 9 NCBI curation C2676788 612285 16 Feb 2016 Disease Joubert syndrome 9/15, digenic NCBI curation C3280898 16 Feb 2016 Disease Joubert Syndrome and Related Disorders CN199461 16 Feb 2016 Disease Joubert syndrome with hepatic defect MONDO C1857662 MONDO:0008996 216360 17 Apr 2020 Disease Joubert syndrome with Jeune asphyxiating thoracic dystrophy C4518774 04 May 2018 Disease Joubert syndrome with ocular defect MONDO C4274118 MONDO:0016364 17 Apr 2020 Disease Joubert syndrome, EXOC8 related CN240378 31 Jan 2017 Disease Joubert syndrome, EXOSC8 related CN240379 31 Jan 2017 Disease JP and JP/HHT 16 Feb 2016 Disease JP, JP/HHT, and HHT 16 Feb 2016 Disease Juberg Hayward syndrome 16 Feb 2016 Disease Juberg Marsidi syndrome 16 Feb 2016 Disease Judge Misch Wright syndrome C2931590 16 Feb 2016 Disease Jugular foramen meningioma MONDO C1334298 MONDO:0003771 17 Apr 2020 Disease Jumping Frenchmen of Maine C1280764 244100 16 Feb 2016 Disease Junctional ectopic tachycardia Human Phenotype Ontology C0039235 HP:0011716 16 Feb 2016 Finding Junctional epidermolysis bullosa MONDO C0079301 MONDO:0017612 22 Apr 2020 Disease Junctional epidermolysis bullosa gravis of Herlitz NCBI curation C0079683 226700 16 Feb 2016 Disease Junctional epidermolysis bullosa inversa C2673609 16 Feb 2016 Disease Junctional epidermolysis bullosa, non-Herlitz type MONDO C0268374 MONDO:0009180 226650 13 May 2020 Disease Junctional split Human Phenotype Ontology C4021730 HP:0003341 16 Feb 2016 Finding Juvenile (Subacute) Hexosaminidase A Deficiency NCBI curation CN120377 16 Feb 2016 Disease Juvenile amyotrophic lateral sclerosis Orphanet C3468114 ORPHA300605 24 Dec 2016 Disease Juvenile ankylosing spondylitis MONDO C0409675 MONDO:0020655 17 Apr 2020 Disease Juvenile arthritis due to defect in LACC1 MONDO C3495559 MONDO:0032920 618795 27 May 2020 Disease Juvenile aseptic necrosis Human Phenotype Ontology C4022146 HP:0100323 16 Feb 2016 Finding Juvenile breast papillomatosis MONDO C1334303 MONDO:0003955 17 Apr 2020 Disease Juvenile cataract Human Phenotype Ontology C0302254 HP:0001118 16 Feb 2016 Finding Juvenile chronic polyarthritis MONDO C0409667 MONDO:0024281 17 Apr 2020 Disease Juvenile colonic polyposis Human Phenotype Ontology C4023006 HP:0012198 16 Feb 2016 Finding Juvenile cortical cataract C1863409 16 Feb 2016 Finding Juvenile dermatitis herpetiformis MONDO C0152092 MONDO:0006565 17 Apr 2020 Disease Juvenile gastrointestinal polyposis Human Phenotype Ontology C4025294 HP:0004784 16 Feb 2016 Finding Juvenile hemochromatosis NCBI curation C0268060 16 Feb 2016 Disease Juvenile hyaline fibromatosis CN969884 16 Feb 2016 Disease Juvenile idiopathic inflammatory myopathy MONDO CN229123 MONDO:0018010 17 Apr 2020 Disease Juvenile idiopathic scoliosis MONDO MONDO:0100076 17 Apr 2020 Disease Juvenile myasthenia gravis MONDO CN204980 MONDO:0018325 17 Apr 2020 Disease Juvenile myelomonocytic leukemia Human Phenotype Ontology C0349639 HP:0012209 607785 16 Feb 2016 Disease Juvenile myoclonic epilepsy C0270853 254770 16 Feb 2016 Disease Juvenile myopathy, encephalopathy, lactic acidosis AND stroke C0162671 540000 16 Feb 2016 Disease Juvenile nasopharyngeal angiofibroma Human Phenotype Ontology C1367536 HP:0030429 16 Feb 2016 Finding Juvenile nephropathic cystinosis C0268626 219900 16 Feb 2016 Disease Juvenile neuronal ceroid lipofuscinosis C0751383 204200 16 Feb 2016 Disease Juvenile onset 22 Feb 2016 Finding Juvenile onset Huntington's disease C0751208 16 Feb 2016 Disease Juvenile onset psychosis CN236437 14 May 2016 Disease Juvenile osteochondrosis of spine NCBI curation C0036310 181440 16 Feb 2016 Disease Juvenile overlap myositis MONDO C4707728 MONDO:0018011 17 Apr 2020 Disease Juvenile paralysis agitans of Hunt C0238344 168100 16 Feb 2016 Disease Juvenile pilocytic astrocytoma MONDO C0280783 MONDO:0003999 17 Apr 2020 Disease Juvenile Polyposis CN239474 02 Dec 2016 Disease Juvenile polyposis coli NCBI curation C1868081 16 Feb 2016 Disease Juvenile polyposis of infancy NCBI curation CN069147 16 Feb 2016 Disease Juvenile polyposis of stomach NCBI curation C1832940 16 Feb 2016 Disease Juvenile polyposis syndrome NCBI curation C0345893 174900 16 Feb 2016 Disease Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome NCBI curation C1832942 175050 16 Feb 2016 Disease Juvenile polyps C0221273 01 Jun 2017 Finding Juvenile posterior subcapsular lenticular opacities Human Phenotype Ontology C1863408 HP:0007935 16 Feb 2016 Finding Juvenile primary lateral sclerosis C1853396 606353 16 Feb 2016 Disease Juvenile retinitis pigmentosa, AIPL1-related NCBI curation C2751763 16 Feb 2016 Disease Juvenile retinoschisis C3714753 312700 16 Feb 2016 Disease Juvenile rheumatoid arthritis Human Phenotype Ontology C3714757 HP:0005681 16 Feb 2016 Finding Juvenile Scleroderma 16 Feb 2016 Disease Juvenile spondyloarthropathy MONDO C0409676 MONDO:0043377 17 Apr 2020 Disease Juvenile spring eruption of ears NCBI curation 16 Feb 2016 Disease Juvenile temporal arteritis C0751547 16 Feb 2016 Disease Juvenile type testicular granulosa cell tumor MONDO C1515285 MONDO:0003741 17 Apr 2020 Disease Juvenile xanthogranuloma MONDO C0043324 MONDO:0015534 17 Apr 2020 Disease Juvenile zonular cataracts Human Phenotype Ontology C1849324 HP:0007713 16 Feb 2016 Finding Juvenile-onset Parkinson disease MONDO MONDO:0000828 17 Apr 2020 Disease Juxtacortical osteosarcoma MONDO C0206642 MONDO:0006817 17 Apr 2020 Disease Juxtaductal coarctation of the aorta Human Phenotype Ontology C4023250 HP:0011646 16 Feb 2016 Finding Juxtafoveal choroidal neovascularization Human Phenotype Ontology C4531252 HP:0031240 04 Apr 2018 Finding Juxtaposition of the atrial appendages MONDO CN227872 MONDO:0020431 17 Apr 2020 Disease Kabuki syndrome OMIM phenotypic series C0796004 PS147920 16 Feb 2016 Disease Kabuki syndrome 1 NCBI curation CN030661 147920 26 Dec 2016 Disease Kabuki syndrome 2 NCBI curation C3275495 300867 16 Feb 2016 Disease Kahrizi syndrome NCBI curation C2675185 612713 16 Feb 2016 Disease Kala-azar susceptibility NCBI curation CN234686 16 Feb 2016 Finding Kala-azar susceptibility 1 NCBI curation C1969520 608207 16 Feb 2016 Finding Kala-azar susceptibility 2 NCBI curation C1969649 611381 16 Feb 2016 Finding Kala-azar susceptibility 3 NCBI curation C1969648 611382 16 Feb 2016 Finding Kallikrein hypertension C1171349 16 Feb 2016 Disease Kallikrein, decreased urinary activity of NCBI curation C1835808 615953 16 Feb 2016 Disease Kallmann syndrome 2 with selective tooth agenesis NCBI curation 16 Feb 2016 Disease Kallmann syndrome 3 NCBI curation C3550478 244200 16 Feb 2016 Disease Kallmann syndrome with spastic paraplegia NCBI curation C1839911 308750 16 Feb 2016 Disease Kallmann syndrome-heart disease syndrome MONDO CN201538 MONDO:0016515 17 Apr 2020 Disease Kanamycin response NCBI curation CN184547 16 Feb 2016 Pharmacological response kanamycin response - Toxicity/ADR PharmGKB 1444699743PA450137 06 Jul 2018 Pharmacological response Kandori's syndrome C0271257 228990 16 Feb 2016 Disease KANK1- Related Disorder 11 Oct 2018 Disease Kaolinosis C0264435 16 Feb 2016 Disease Kaplowitz-Bodurtha syndrome MONDO C2931361 MONDO:0023538 22 Apr 2020 Disease Kaposi sarcoma, susceptibility to NCBI curation C3538945 148000 21 Sep 2019 Disease Kaposiform hemangioendothelioma Orphanet C1367420 ORPHA2122 20 Jul 2018 Disease Kaposiform lymphangiomatosis MONDO CN242101 MONDO:0018736 17 Apr 2020 Disease Kapur-Toriello syndrome MONDO C0796005 MONDO:0009483 244300 22 Apr 2020 Disease Karak syndrome C2750220 16 Feb 2016 Disease Karandikar Maria Kamble syndrome 16 Feb 2016 Disease Karsch-Neugebauer syndrome MONDO C1866740 MONDO:0008466 183800 17 Apr 2020 Disease Kartagener syndrome NCBI curation C4551906 244400 16 Feb 2016 Disease Kasabach-Merritt syndrome C0221025 141000 16 Feb 2016 Disease Kashani-Strom-Utley syndrome MONDO C2931392 MONDO:0023540 22 Apr 2020 Disease Kashin-Beck disease MONDO C2745963 MONDO:0005610 17 Apr 2020 Disease Kasznica-Carlson-Coppedge syndrome MONDO C2931393 MONDO:0023541 22 Apr 2020 Disease KAT6A syndrome CN225587 16 Feb 2016 Disease KAT6B-Related Spectrum Disorders CN239406 02 Dec 2016 Disease Katsantoni-Papadakou-Lagoyanni syndrome MONDO C2931394 MONDO:0023543 22 Apr 2020 Disease Kaufman oculocerebrofacial syndrome NCBI curation C1855663 244450 28 Feb 2017 Disease Kawasaki disease, susceptibility to NCBI curation 16 Feb 2016 Disease Kayser-Fleischer ring Human Phenotype Ontology C0152457 HP:0200032 16 Feb 2016 Finding KBG syndrome C0220687 148050 16 Feb 2016 Disease KCNB1-related disorder 21 Aug 2018 Disease KCNE2-Related Disorders CN239320 02 Dec 2016 Disease KCNH1-related disorders 21 May 2020 Disease KCNH1-related phenotype 12 Sep 2018 Disease KCNJ10-Related Disorders CN239321 02 Dec 2016 Disease KCNJ11-Related Disorders 23 May 2019 Disease KCNQ1-related acquired long QT syndrome CN177653 16 Feb 2016 Disease KCNQ1-Related Disorders CN239322 02 Dec 2016 Disease KCNQ2-Related Disorders CN169299 16 Feb 2016 Disease KCNQ3-related developmental disability CN868255 16 Mar 2018 Disease KCNT2-related condition CN236796 24 Jun 2016 Disease Kearns Sayre syndrome NCBI curation C0022541 530000 16 Feb 2016 Disease Keipert syndrome NCBI curation C1850627 301026 16 Jun 2019 Disease Kel6 antigen NCBI curation C4017346 26 May 2016 Disease Kell blood group system NCBI curation C0022546 110900 16 Feb 2016 Blood group KELL K/k BLOOD GROUP POLYMORPHISM 16 Feb 2016 Blood group Kell-null NCBI curation 16 Feb 2016 Disease KELL-NULL PHENOTYPE 16 Feb 2016 Disease Keloid MONDO MONDO:0005348 17 Apr 2020 Disease Keloid formation NCBI curation C3149494 148100 16 Feb 2016 Disease Kennedy disease) CN218995 16 Feb 2016 Disease Kennerknecht syndrome NCBI curation C1833162 600908 24 Apr 2016 Disease Kennerknecht Vogel syndrome 16 Feb 2016 Disease Kenny-Caffey syndrome OMIM phenotypic series C0265291 PS127000 16 Feb 2016 Disease Kenny-Caffey syndrome type 2 NCBI curation C4316787 127000 16 Feb 2016 Disease Keppen-Lubinsky syndrome NCBI curation C3279800 614098 16 Feb 2016 Disease Keratan sulfate excretion in urine Human Phenotype Ontology C4023060 HP:0012069 16 Feb 2016 Finding Keratinization disease MONDO C0475811 MONDO:0045011 17 Apr 2020 Disease Keratinizing squamous cell carcinoma MONDO C0334247 MONDO:0005056 17 Apr 2020 Disease Keratinopathic ichthyosis MONDO C4511307 MONDO:0017266 17 Apr 2020 Disease Keratitis Human Phenotype Ontology C0022568 HP:0000491 16 Feb 2016 Finding Keratitis fugax hereditaria NCBI curation C1835697 148200 16 Feb 2016 Disease Keratitis ichthyosis and deafness syndrome NCBI curation C3665333 08 Feb 2020 Disease Keratitis, autosomal dominant NCBI curation C4017065 16 Feb 2016 Disease Keratitis, hereditary C1835698 148190 16 Feb 2016 Disease Keratitis-ichthyosis-deafness syndrome, autosomal dominant NCBI curation C0265336 148210 16 Feb 2016 Disease Keratoacanthoma Human Phenotype Ontology C0022572 HP:0031525 04 Apr 2018 Finding Keratoconjunctivitis Human Phenotype Ontology C0022573 HP:0001096 16 Feb 2016 Finding Keratoconjunctivitis sicca Human Phenotype Ontology C0022575 HP:0001097 16 Feb 2016 Finding Keratoconjunctivitis, infectious MONDO C0022576 MONDO:0025431 17 Apr 2020 Disease Keratoconus OMIM phenotypic series C0022578 PS148300 16 Feb 2016 Disease Keratoconus Human Phenotype Ontology C0022578 HP:0000563 16 Feb 2016 Disease Keratoconus 1 NCBI curation C1835677 148300 16 Feb 2016 Disease Keratoconus 2 NCBI curation C1837090 608932 16 Feb 2016 Disease Keratoconus 3 NCBI curation C1837809 608586 16 Feb 2016 Disease Keratoconus 4 NCBI curation C1836473 609271 16 Feb 2016 Disease Keratoconus 5 NCBI curation C3553302 614622 16 Feb 2016 Disease Keratoconus 6 NCBI curation C3553306 614623 16 Feb 2016 Disease Keratoconus 7 NCBI curation C3553308 614629 16 Feb 2016 Disease Keratoconus 8 NCBI curation C3553307 614628 16 Feb 2016 Disease KERATOCONUS 9 OMIM C4693660 617928 617928 05 Apr 2018 Disease Keratoconus and congenital hip dysplasia NCBI curation C1855647 244510 16 Feb 2016 Disease Keratoconus posticus circumscriptus C1855645 244600 16 Feb 2016 Disease Keratoconus, stable condition MONDO C0155131 MONDO:0001030 17 Apr 2020 Disease Keratocystic odontogenic tumors of jaws CN233176 16 Feb 2016 Finding Keratoderma palmoplantar spastic paralysis C1835671 148360 16 Feb 2016 Disease Keratoderma palmoplantaris transgrediens NCBI curation 16 Feb 2016 Disease Keratoderma with scleroatrophy of the extremities C0406767 181600 16 Feb 2016 Disease Keratoderma, palmoplantar, Norrbotten recessive type NCBI curation C1855644 244850 16 Feb 2016 Disease Keratoglobus Human Phenotype Ontology C3887531 HP:0001119 16 Feb 2016 Finding Keratolytic winter erythema C0406756 148370 16 Feb 2016 Disease Keratomalacia C0152455 16 Feb 2016 Disease Keratopathy MONDO C0235270 MONDO:0002261 17 Apr 2020 Disease Keratosis C0022593 18 Jan 2019 Finding Keratosis follicularis C0022595 124200 16 Feb 2016 Disease Keratosis follicularis spinulosa decalvans Orphanet C0343057 ORPHA2340 05 Mar 2020 Disease Keratosis follicularis spinulosa decalvans, autosomal dominant NCBI curation C2748527 612843 16 Feb 2016 Disease Keratosis follicularis spinulosa decalvans, X-linked NCBI curation C3887525 308800 05 Mar 2020 Disease Keratosis follicularis-dwarfism-cerebral atrophy syndrome MONDO C1839910 MONDO:0010638 308830 17 Apr 2020 Disease Keratosis linearis with ichthyosis congenita and sclerosing keratoderma NCBI curation C1866029 601952 16 Feb 2016 Disease Keratosis palmaris et plantaris with clinodactyly NCBI curation C1835663 148520 16 Feb 2016 Disease Keratosis palmoplantaris adenocarcinoma of the colon 16 Feb 2016 Disease Keratosis palmoplantaris papulosa C1835662 148600 16 Feb 2016 Disease Keratosis palmoplantaris striata 3 C2931123 607654 16 Feb 2016 Disease Keratosis Palmoplantaris Striata I, AD CN229777 16 Feb 2016 Disease Keratosis palmoplantaris striata II NCBI curation C1852127 612908 26 May 2016 Disease Keratosis pilaris NCBI curation C0263383 604093 16 Feb 2016 Disease Keratosis, familial actinic NCBI curation C2675099 148390 16 Feb 2016 Disease Kernicterus Human Phenotype Ontology C0022610 HP:0001343 16 Feb 2016 Disease Kernicterus due to isoimmunization MONDO C0270204 MONDO:0006567 17 Apr 2020 Disease Keshan disease C0268095 16 Feb 2016 Infectious disease Ketamine-induced biliary dilatation MONDO C4512018 MONDO:0017394 17 Apr 2020 Disease Ketoacidosis Human Phenotype Ontology C0220982 HP:0001993 16 Feb 2016 Finding Ketoadipicaciduria NCBI curation C1855626 245130 16 Feb 2016 Disease Ketonuria Human Phenotype Ontology C0162275 HP:0002919 16 Feb 2016 Finding Ketosis Human Phenotype Ontology C0022638 HP:0001946 16 Feb 2016 Finding Ketotic hypoglycemia Human Phenotype Ontology C0271713 HP:0012734 16 Feb 2016 Finding Keutel syndrome C1855607 245150 16 Feb 2016 Disease KHAN-KHAN-KATSANIS SYNDROME OMIM C5193110 618460 618460 18 Jul 2019 Disease KIDD BLOOD POLYMORPHISM Jk(a)/Jk(b) 16 Feb 2016 Disease Kidney benign neoplasm MONDO MONDO:0002513 17 Apr 2020 Disease Kidney cancer, childhood 16 Feb 2016 Disease Kidney Carcinoma NCBI curation C1378703 02 Mar 2017 Disease Kidney carcinoma in situ MONDO C0686172 MONDO:0004732 17 Apr 2020 Disease Kidney cortex necrosis MONDO MONDO:0006820 17 Apr 2020 Disease Kidney Disease 16 Feb 2016 Disease Kidney dysfunction C0151746 16 Feb 2016 Finding Kidney failure MONDO MONDO:0001106 17 Apr 2020 Disease Kidney fibrosarcoma MONDO C0238208 MONDO:0003720 17 Apr 2020 Disease Kidney hemangiopericytoma MONDO C0346256 MONDO:0002365 17 Apr 2020 Disease Kidney hypertrophy MONDO C0156259 MONDO:0004841 17 Apr 2020 Disease Kidney leiomyosarcoma MONDO C1335743 MONDO:0003373 17 Apr 2020 Disease Kidney lipoma MONDO C1335744 MONDO:0000968 17 Apr 2020 Disease Kidney liposarcoma MONDO C1335745 MONDO:0003591 17 Apr 2020 Disease Kidney medullary carcinoma MONDO C4049328 MONDO:0006260 17 Apr 2020 Disease Kidney neoplasm MONDO MONDO:0021163 17 Apr 2020 Disease Kidney osteogenic sarcoma MONDO C1335747 MONDO:0003721 17 Apr 2020 Disease Kidney papillary necrosis MONDO C0022667 MONDO:0006821 17 Apr 2020 Disease Kidney pelvis sarcomatoid transitional cell carcinoma MONDO C1335752 MONDO:0004009 17 Apr 2020 Disease kidney stones 18 Jan 2019 Finding Kidney Transplantation PharmGKB CN236685 18 May 2016 Disease Kifafa seizure disorder C0796010 245180 16 Feb 2016 Disease Kikuchi disease 16 Feb 2016 Disease Kikuchi-Fujimoto disease MONDO C0398367 MONDO:0018864 17 Apr 2020 Disease Kilquist Syndrome 29 Jan 2019 Disease Kimura's disease C0033838 16 Feb 2016 Disease Kindler's syndrome NCBI curation C0406557 173650 16 Feb 2016 Disease Kinetic eyelid anomaly MONDO MONDO:0020168 17 Apr 2020 Disease Kinetic tremor Human Phenotype Ontology C4551521 HP:0030186 16 Feb 2016 Finding King Denborough syndrome NCBI curation C1840365 16 Feb 2016 Disease Kingella infections 16 Feb 2016 Disease Kininogen deficiency, high molecular weight and low molecular weight NCBI curation C2673570 16 Feb 2016 Disease Kininogen deficiency, total NCBI curation C1856719 16 Feb 2016 Disease Kinked brainstem Human Phenotype Ontology C4021068 HP:0012793 16 Feb 2016 Finding Klatskin tumor Orphanet C0206702 ORPHA99978 15 Nov 2018 Disease Klebsiella 16 Feb 2016 Disease Klebsiella infectious disease MONDO CN281887 MONDO:0030603 04 Jun 2020 Infectious disease Klebsiella pneumonia MONDO C0519030 MONDO:0030602 04 Jun 2020 Infectious disease Kleefstra syndrome OMIM phenotypic series C4551771 PS610253 02 Jan 2020 Disease Kleefstra syndrome 1 NCBI curation C0795833 610253 02 Jan 2020 Disease Kleefstra syndrome 2 NCBI curation C4540395 617768 02 Jan 2020 Disease Kleefstra syndrome due to 9q34 microdeletion NCBI curation CN970821 12 Mar 2020 Disease Kleefstra syndrome due to a point mutation CN279272 23 Aug 2019 Disease Klein-Waardenberg's syndrome NCBI curation C0079661 148820 16 Feb 2016 Disease Kleine-Levin syndrome C0206085 148840 16 Feb 2016 Disease Kleptomania MONDO C0022734 MONDO:0001520 17 Apr 2020 Disease KLF7-related disorder 07 May 2020 Finding KLHL9-related early-onset distal myopathy MONDO C4706574 MONDO:0018370 17 Apr 2020 Disease Klinefelter's syndrome, XXY C0022735 16 Feb 2016 Disease Klippel Feil syndrome C0022738 16 Feb 2016 Disease Klippel-Feil syndrome 1, autosomal dominant NCBI curation C1861689 118100 16 Feb 2016 Disease Klippel-Feil syndrome 2, autosomal recessive NCBI curation C1859209 214300 16 Feb 2016 Disease Klippel-Feil syndrome 3, autosomal dominant NCBI curation C3150967 613702 16 Feb 2016 Disease Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism CN259048 13 Jun 2019 Disease Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism NCBI curation C4225285 616549 24 Aug 2016 Disease Klippel-Feil syndrome, RIPPLY2 related CN236439 16 May 2016 Disease Klippel-Trénaunay syndrome CN282527 12 Jun 2020 Disease KLOTHO POLYMORPHISM 25 May 2018 Disease Klumpke's paralysis MONDO C0270898 MONDO:0023054 17 Apr 2020 Disease Klumpke-Déjerine paralysis 16 Feb 2016 Disease Kluver-Bucy syndrome MONDO C0270707 MONDO:0005817 22 Apr 2020 Infectious disease KMT2C-related condition 10 Jan 2020 Finding KMT2C-related disorders 21 May 2020 Disease Knee clonus Human Phenotype Ontology C0520823 HP:0011449 16 Feb 2016 Finding Knee dislocation Human Phenotype Ontology C0159970 HP:0004976 16 Feb 2016 Finding Knee flexion contracture Human Phenotype Ontology C0409355 HP:0006380 16 Feb 2016 Finding Knee joint hypermobility Human Phenotype Ontology C0574978 HP:0045086 04 Apr 2018 Finding knee joint laxity 05 Sep 2019 Finding Knee pain Human Phenotype Ontology C0231749 HP:0030839 02 Apr 2017 Finding Kniest dysplasia C0265279 156550 16 Feb 2016 Disease Kniest-like dysplasia with pursed lips and ectopia lentis C1855606 245160 16 Feb 2016 Disease Knobloch syndrome 1 NCBI curation C4551775 267750 16 Feb 2016 Disease KNOPS BLOOD GROUP SYSTEM OMIM C1292327 607486 607486 16 Feb 2016 Blood group Known OR suspected fetal abnormality affecting management of mother NCBI curation C0157063 16 Feb 2016 Disease Knuckle pads NCBI curation C0264000 149100 16 Feb 2016 Disease Knuckle pads, deafness AND leukonychia syndrome C0266004 149200 16 Feb 2016 Disease Kocher-Debre-Semelaigne syndrome 16 Feb 2016 Disease Kohler disease 16 Feb 2016 Disease Kohlschutter's syndrome C0406740 226750 16 Feb 2016 Disease Koilonychia with leukonychia NCBI curation 16 Feb 2016 Disease Konigsmark Knox Hussels syndrome 16 Feb 2016 Disease Koolen-de Vries syndrome NCBI curation C1864871 610443 16 Feb 2016 Disease Koolen-de Vries syndrome due to a point mutation MONDO CN204741 MONDO:0018217 17 Apr 2020 Disease Koone-Rizzo-Elias syndrome MONDO C2931397 MONDO:0023561 22 Apr 2020 Disease Korsakoff's psychosis C0349464 277730 16 Feb 2016 Disease Kosaki overgrowth syndrome NCBI curation C4225270 616592 16 Feb 2016 Disease Kosztolanyi syndrome 16 Feb 2016 Disease Kotzot-Richter syndrome C2931399 16 Feb 2016 Disease Kousseff Nichols syndrome 16 Feb 2016 Disease Kousseff syndrome MONDO C2931444 MONDO:0016522 17 Apr 2020 Disease Kozlowski Brown Hardwick syndrome C2931511 16 Feb 2016 Disease Kozlowski Ouvrier syndrome C2931512 16 Feb 2016 Disease Kozlowski Rafinski Klicharska syndrome C2931513 16 Feb 2016 Disease Kozlowski Warren Fisher syndrome C2931546 16 Feb 2016 Disease Kozlowski-Krajewska syndrome 16 Feb 2016 Disease Kozlowski-Reardon mesomelic displasia NCBI curation CN120386 16 Feb 2016 Disease Kpc with associated malformations NCBI curation 16 Feb 2016 Disease Krabbe disease, atypical, due to saposin A deficiency MONDO C2673266 MONDO:0012720 611722 22 Apr 2020 Disease Krasnow Qazi syndrome 16 Feb 2016 Disease Krauss Herman Holmes syndrome C2931549 16 Feb 2016 Disease Krebs 2 carcinoma MONDO C0007128 MONDO:0006824 17 Apr 2020 Disease Krieble Bixler syndrome C2931550 16 Feb 2016 Disease Krukenberg carcinoma C0022790 16 Feb 2016 Disease KSHV inflammatory cytokine syndrome MONDO C4086533 MONDO:0023528 17 Apr 2020 Disease KTS; Vascular overgrowth 16 Feb 2016 Finding Kufor-Rakeb syndrome MONDO C1847640 MONDO:0011706 606693 22 Apr 2020 Disease Kugelberg-Welander disease C0152109 253400 16 Feb 2016 Disease Kummell disease MONDO C0152088 MONDO:0003940 17 Apr 2020 Disease Kunjin virus infectous disease MONDO CN281917 MONDO:0000273 04 Jun 2020 Infectious disease Kurczynski Casperson syndrome 16 Feb 2016 Disease Kuru C0022802 16 Feb 2016 Infectious disease Kuru, protection against NCBI curation C4016338 16 Feb 2016 Disease Kuru, susceptibility to NCBI curation C1855588 245300 16 Feb 2016 Disease Kuster Majewski Hammerstein syndrome C2931740 16 Feb 2016 Disease Kuster syndrome C2931741 16 Feb 2016 Disease Kwashiorkor MONDO C0022806 MONDO:0006826 17 Apr 2020 Disease Kyasanur forest disease C0022810 16 Feb 2016 Infectious disease Kyphomelic dysplasia C0432239 211350 16 Feb 2016 Disease Kyphoscoliosis Human Phenotype Ontology C0575158 HP:0002751 16 Feb 2016 Finding Kyphoscoliosis 1 NCBI curation C1857795 610170 16 Feb 2016 Disease Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome MONDO CN258510 MONDO:0044648 17 Apr 2020 Disease Kyphoscoliotic heart disease MONDO C0152102 MONDO:0001492 17 Apr 2020 Disease Kyphosis Human Phenotype Ontology C0022821 HP:0002808 16 Feb 2016 Finding L-2-hydroxyglutaric acidemia Human Phenotype Ontology C3888081 HP:0040147 16 Feb 2016 Finding L-2-hydroxyglutaric aciduria Human Phenotype Ontology C1855995 HP:0040144 236792 16 Feb 2016 Disease L-cell glucagon-like peptide-producing neuroendocrine tumor MONDO C3274140 MONDO:0004211 17 Apr 2020 Disease L-ferritin deficiency NCBI curation C3810090 615604 16 Feb 2016 Disease L-ferritin deficiency, autosomal recessive NCBI curation C4016051 14 Jan 2018 Disease L-gulonolactone oxidase pseudogene NCBI curation CN177973 16 Feb 2016 Disease L-looping of the right ventricle Human Phenotype Ontology C4023307 HP:0011544 16 Feb 2016 Finding L1 syndrome NCBI curation CN118845 19 Jul 2018 Disease La Crosse encephalitis MONDO C0276379 MONDO:0019378 04 Jun 2020 Infectious disease Labia majora carcinoma MONDO C1334356 MONDO:0001702 17 Apr 2020 Disease Labia minora cancer MONDO C0496815 MONDO:0001526 17 Apr 2020 Disease Labia minora carcinoma MONDO C1334357 MONDO:0001602 17 Apr 2020 Disease Labia minora, incomplete adhesion of NCBI curation C1835613 149600 16 Feb 2016 Disease labial adhesions C0240140 18 Jan 2019 Finding Labial hypertrophy Human Phenotype Ontology C0404531 HP:0000065 16 Feb 2016 Finding Labial hypoplasia Human Phenotype Ontology C1850325 HP:0000066 16 Feb 2016 Finding Labial pseudohypertrophy Human Phenotype Ontology C1835380 HP:0008739 16 Feb 2016 Finding Labium majus cancer MONDO C0496814 MONDO:0001403 17 Apr 2020 Disease Labyrinthine bilateral reactive loss MONDO C0155520 MONDO:0001959 17 Apr 2020 Disease Labyrinthine dysfunction MONDO C0155514 MONDO:0003571 17 Apr 2020 Disease Labyrinthine fistula 16 Feb 2016 Disease Labyrinthine unilateral reactive loss MONDO C0155519 MONDO:0002106 17 Apr 2020 Disease Labyrinthitis MONDO C0022893 MONDO:0002008 17 Apr 2020 Disease Labyrinthitis syndrome 16 Feb 2016 Disease Lachiewicz Sibley syndrome C2931742 16 Feb 2016 Disease Lack of bowel sounds Human Phenotype Ontology C4022606 HP:0030145 16 Feb 2016 Finding lack of coordination 14 Mar 2019 Finding lack of development 05 Sep 2019 Finding lack of expected normal physiological development 05 Sep 2019 Finding lack of expected physiological development in childhood 05 Sep 2019 Finding Lack of facial subcutaneous fat Human Phenotype Ontology C3277426 HP:0005320 16 Feb 2016 Finding Lack of gonadotropin-releasing hormone pulsatility Human Phenotype Ontology C4477074 HP:0500013 04 Apr 2018 Finding Lack of insight Human Phenotype Ontology C0233824 HP:0000757 16 Feb 2016 Finding Lack of peer relationships Human Phenotype Ontology C1845337 HP:0002332 16 Feb 2016 Finding lack of physiological development in childhood 05 Sep 2019 Finding lack of proprioception 11 Oct 2017 Finding Lack of skin elasticity Human Phenotype Ontology C4021998 HP:0100679 16 Feb 2016 Finding Lack of spontaneous play Human Phenotype Ontology C1837650 HP:0000721 16 Feb 2016 Finding Lack of subcutaneous fatty tissue Human Phenotype Ontology HP:0007519 16 Feb 2016 Finding Lacosamide response NCBI curation CN781942 01 Feb 2018 Pharmacological response Lacrimal apparatus disease MONDO MONDO:0001854 17 Apr 2020 Disease Lacrimal duct aplasia Human Phenotype Ontology C4024773 HP:0007925 16 Feb 2016 Finding Lacrimal duct atresia Human Phenotype Ontology C0344511 HP:0000564 16 Feb 2016 Finding Lacrimal duct cancer MONDO C0153631 MONDO:0001580 17 Apr 2020 Disease Lacrimal duct defect NCBI curation C1835612 149700 16 Feb 2016 Disease Lacrimal duct stenosis Human Phenotype Ontology C0238300 HP:0007678 16 Feb 2016 Finding Lacrimal gland adenocarcinoma MONDO C0346341 MONDO:0002475 17 Apr 2020 Disease Lacrimal gland adenoid cystic carcinoma MONDO C0346340 MONDO:0006262 17 Apr 2020 Disease Lacrimal gland aplasia Human Phenotype Ontology C4024822 HP:0007656 16 Feb 2016 Finding Lacrimal gland cancer MONDO MONDO:0002464 17 Apr 2020 Disease Lacrimal gland carcinoma MONDO C1334358 MONDO:0002463 17 Apr 2020 Disease Lacrimal gland carcinoma ex pleomorphic adenoma MONDO C0346342 MONDO:0002469 17 Apr 2020 Disease Lacrimal gland hypoplasia Human Phenotype Ontology C1863200 HP:0007732 16 Feb 2016 Finding Lacrimal gland mucoepidermoid carcinoma MONDO C1334359 MONDO:0003092 17 Apr 2020 Disease Lacrimal gland neoplasm MONDO C0339124 MONDO:0021222 17 Apr 2020 Disease Lacrimal gland squamous cell carcinoma MONDO C1334360 MONDO:0003492 17 Apr 2020 Disease lacrimal obstruction 22 Aug 2019 Finding Lacrimal passage granuloma MONDO C0155253 MONDO:0000957 17 Apr 2020 Disease Lacrimal puncta, absence of NCBI curation 16 Feb 2016 Disease Lacrimal system cancer MONDO C1334361 MONDO:0002460 17 Apr 2020 Disease Lacrimation abnormality Human Phenotype Ontology C4021801 HP:0000632 16 Feb 2016 Finding Lactase persistence NCBI curation C1857231 25 May 2017 Disease Lactate dehydrogenase B deficiency NCBI curation C3279904 614128 16 Feb 2016 Disease Lactate dehydrogenase deficiency type A C2931743 16 Feb 2016 Disease Lactate dehydrogenase deficiency type C 16 Feb 2016 Disease Lactate peak on MRI CN239551 08 Dec 2016 Finding Lactate peak on MRS CN239552 08 Dec 2016 Finding Lactate peaks in Magnetic Resonance Spectroscopy CN235378 02 Mar 2016 Finding Lactation disease MONDO C0022927 MONDO:0045019 17 Apr 2020 Disease Lactescent serum Human Phenotype Ontology C1096710 HP:0031028 04 Apr 2018 Finding Lactic acidemia, thiamine-responsive NCBI curation 16 Feb 2016 Disease Lactic acidosis Human Phenotype Ontology C0001125 HP:0003128 16 Feb 2016 Finding Lactic acidosis congenital infantile 16 Feb 2016 Disease Lactic acidosis, chronic adult form NCBI curation C1835591 150170 16 Feb 2016 Disease Lactic aciduria due to d-lactic acid NCBI curation C5193006 245450 24 Aug 2016 Disease Lacticaciduria Human Phenotype Ontology C4025585 HP:0003648 16 Feb 2016 Finding Lactocele 16 Feb 2016 Disease Lactose intolerance Human Phenotype Ontology C0022951 HP:0004789 16 Feb 2016 Finding Ladda Zonana Ramer syndrome 16 Feb 2016 Disease Lafora bodies Human Phenotype Ontology C0333749 HP:0100318 16 Feb 2016 Finding Lafora disease C0751783 254780 16 Feb 2016 Disease Lagophthalmia cleft lip palate 16 Feb 2016 Disease Lagophthalmos MONDO C0152226 MONDO:0001604 17 Apr 2020 Disease Lagopthalmos Human Phenotype Ontology C4022680 HP:0030001 16 Feb 2016 Finding LAMA3-Related Disorders 23 May 2019 Disease Lama5-related multisystemic syndrome MONDO CN258749 MONDO:0033856 17 Apr 2020 Disease Lamb-shaffer syndrome NCBI curation C4225202 616803 16 Feb 2016 Disease Lambda 5 deficiency MONDO MONDO:0000581 17 Apr 2020 Disease Lambert syndrome C1855551 245550 16 Feb 2016 Disease Lambotte syndrome MONDO C1855550 MONDO:0009508 245552 17 Apr 2020 Disease Lamellar ichthyosis CN186176 16 Feb 2016 Disease Lamellar pulverulent cataract Human Phenotype Ontology C4023735 HP:0010694 16 Feb 2016 Finding Laminin alpha 2-related dystrophy NCBI curation CN117977 16 Feb 2016 Disease Laminopathy Orphanet CN236383 ORPHA98301 27 Apr 2016 Disease Laminopathy type Decaudain-Vigouroux MONDO MONDO:0015308 17 Apr 2020 Disease Lamotrigine response NCBI curation CN221266 16 Feb 2016 Pharmacological response lamotrigine response - Other PharmGKB CN236599 1184986623 18 May 2016 Pharmacological response LAMP2-Related Cardiomyopathy CN164371 16 Feb 2016 Disease Landsteiner-Wiener phenotype NCBI curation C3887952 111250 16 Feb 2016 Blood group Landy-Donnai syndrome MONDO C2931460 MONDO:0043114 22 Apr 2020 Disease Langer mesomelic dysplasia syndrome C0432230 249700 16 Feb 2016 Disease Langer-Giedion syndrome C0023003 150230 16 Feb 2016 Disease Langereis blood group NCBI curation C3276339 111600 16 Feb 2016 Blood group Langerhans cell histiocytosis NCBI curation C0019621 604856 29 Oct 2018 Disease Langerhans cell histiocytosis in childhood and adulthood MONDO MONDO:0017036 17 Apr 2020 Disease Langerhans cell histiocytosis specific to adulthood MONDO C3900100 MONDO:0017029 17 Apr 2020 Disease Langerhans cell histiocytosis specific to childhood MONDO C3899655 MONDO:0017025 17 Apr 2020 Disease Langerhans cell sarcoma C1260327 16 Feb 2016 Disease Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia NCBI curation C4310678 617182 20 Jun 2017 Disease language development delay 22 Aug 2019 Finding Language disorder 30 Nov 2018 Finding Language impairment Human Phenotype Ontology C0023015 HP:0002463 16 Feb 2016 Finding Language retardation CN239860 11 Jan 2017 Disease Lansoprazole response NCBI curation CN474477 20 Sep 2017 Pharmacological response Laparoschisis 16 Feb 2016 Disease Lapatinib response CN077992 16 Feb 2016 Pharmacological response Laplane Fontaine Lagardere syndrome 16 Feb 2016 Disease Large and prominent ears with wide lobes 21 Dec 2019 Finding Large artery stroke MONDO MONDO:0005490 17 Apr 2020 Disease Large basal ganglia Human Phenotype Ontology C1859470 HP:0007048 16 Feb 2016 Finding Large beaked nose Human Phenotype Ontology C4025579 HP:0003683 16 Feb 2016 Finding Large cafe-au-lait macules with irregular margins Human Phenotype Ontology C4025174 HP:0005605 16 Feb 2016 Finding Large capillary hemangioma on scalp 08 Jun 2018 Finding Large capitate bone Human Phenotype Ontology C4025383 HP:0004263 16 Feb 2016 Finding Large carpal bones Human Phenotype Ontology C4021671 HP:0004237 16 Feb 2016 Finding Large cell acanthoma MONDO C1334362 MONDO:0002961 17 Apr 2020 Disease Large cell carcinoma MONDO C0206704 MONDO:0005232 17 Apr 2020 Disease Large cell carcinoma with rhabdoid phenotype MONDO C1265997 MONDO:0004237 17 Apr 2020 Disease Large cell keratinizing variant squamous cell breast carcinoma MONDO C1519486 MONDO:0004232 17 Apr 2020 Disease Large cell lung carcinoma Human Phenotype Ontology C0345958 HP:0030360 16 Feb 2016 Finding Large cell lung carcinoma, clear cell variant MONDO C1707407 MONDO:0024386 17 Apr 2020 Disease Large cell medulloblastoma MONDO C1266180 MONDO:0002791 17 Apr 2020 Disease Large cell neuroendocrine carcinoma MONDO C1265996 MONDO:0005057 17 Apr 2020 Disease Large central visual field defect Human Phenotype Ontology C4025800 HP:0001129 16 Feb 2016 Finding Large clumps of pigment irregularly distributed along hair shaft Human Phenotype Ontology C4025315 HP:0004527 16 Feb 2016 Finding Large congenital melanocytic nevus MONDO C1842036 MONDO:0044792 137550 17 Apr 2020 Disease Large earlobe Human Phenotype Ontology C1844573 HP:0009748 16 Feb 2016 Finding Large elbow Human Phenotype Ontology C4280737 HP:0030865 02 Apr 2017 Finding Large eyes Human Phenotype Ontology C1855852 HP:0001090 16 Feb 2016 Finding Large face Human Phenotype Ontology C2748652 HP:0100729 16 Feb 2016 Finding Large fleshy ears Human Phenotype Ontology C3808403 HP:0002265 16 Feb 2016 Finding Large fontanelles Human Phenotype Ontology C0456132 HP:0000239 16 Feb 2016 Finding Large for gestational age Human Phenotype Ontology C1848395 HP:0001520 16 Feb 2016 Finding Large foramen magnum Human Phenotype Ontology C1844508 HP:0002700 16 Feb 2016 Finding Large forehead Human Phenotype Ontology C1839783 HP:0002003 16 Feb 2016 Finding Large hamate bone Human Phenotype Ontology C4025385 HP:0004260 16 Feb 2016 Finding Large hands Human Phenotype Ontology C0426870 HP:0001176 16 Feb 2016 Finding large head CN238745 19 Oct 2016 Finding Large humeral epiphyses Human Phenotype Ontology C4025522 HP:0003898 16 Feb 2016 Finding Large hyperpigmented retinal spots Human Phenotype Ontology C4024820 HP:0007658 16 Feb 2016 Finding Large iliac wings Human Phenotype Ontology C4024618 HP:0008818 16 Feb 2016 Finding large incisors 22 Aug 2019 Finding Large intestinal polyposis Human Phenotype Ontology C4022556 HP:0030255 16 Feb 2016 Finding Large intestine disease MONDO C0341321 MONDO:0024634 17 Apr 2020 Disease Large joint dislocations Human Phenotype Ontology C4025260 HP:0005008 16 Feb 2016 Finding Large knee Human Phenotype Ontology C4280736 HP:0030866 02 Apr 2017 Finding Large malaligned teeth 21 Dec 2019 Finding Large nasal bridge 23 Jan 2020 Finding large nevus 05 Sep 2019 Finding Large pelvis bone Human Phenotype Ontology C4072882 HP:0010779 16 Feb 2016 Finding Large placenta Human Phenotype Ontology C0566693 HP:0006267 16 Feb 2016 Finding Large posterior fontanelle Human Phenotype Ontology C1855233 HP:0004491 16 Feb 2016 Finding Large radial epiphyses Human Phenotype Ontology C4025452 HP:0004005 16 Feb 2016 Finding large sacral dimple with prominent coccyx 22 Oct 2019 Finding Large sella turcica Human Phenotype Ontology C1843677 HP:0002690 16 Feb 2016 Finding Large sternal ossification centers Human Phenotype Ontology C1865241 HP:0006642 16 Feb 2016 Finding Large tarsal bones Human Phenotype Ontology C1859116 HP:0004679 16 Feb 2016 Finding Large vessel vasculitis Human Phenotype Ontology C4025218 HP:0005310 16 Feb 2016 Finding Large-cell immunoblastic lymphoma MONDO C0079746 MONDO:0022037 22 Apr 2020 Disease LARGE-related disorders 23 May 2019 Disease Laron syndrome with elevated serum GH-binding protein NCBI curation C4016705 06 Mar 2016 Disease Laron syndrome with immunodeficiency MONDO C1855548 MONDO:0009510 245590 17 Apr 2020 Disease Laron syndrome with undetectable serum GH-binding protein NCBI curation C4016706 16 Feb 2016 Disease Laron-type isolated somatotropin defect C0271568 262500 16 Feb 2016 Disease Larsen syndrome NCBI curation C0175778 16 Feb 2016 Disease Larsen syndrome, dominant type C1835564 150250 16 Feb 2016 Disease Larsen syndrome, recessive type 16 Feb 2016 Disease Larsen-like osseous dysplasia-short stature syndrome MONDO C1837884 MONDO:0012055 608545 17 Apr 2020 Disease Larsen-like syndrome, lethal type NCBI curation C1855535 245650 16 Feb 2016 Disease Larva migrans, visceral MONDO C0023049 MONDO:0024954 04 Jun 2020 Infectious disease Laryngeal abductor paralysis mental retardation 16 Feb 2016 Disease Laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy NCBI curation C1853556 606183 16 Feb 2016 Disease Laryngeal abductor paralysis with intellectual disability syndrome NCBI curation C4319572 308850 25 Oct 2018 Disease Laryngeal adenoid cystic carcinoma MONDO C1334368 MONDO:0006264 17 Apr 2020 Disease Laryngeal atresia Human Phenotype Ontology C0265756 HP:0008750 16 Feb 2016 Finding Laryngeal atresia, encephalocele, and limb deformities NCBI curation C1846721 607132 16 Feb 2016 Disease Laryngeal calcification Human Phenotype Ontology C1859158 HP:0008754 16 Feb 2016 Finding Laryngeal cancer 16 Feb 2016 Disease Laryngeal cancer, childhood 16 Feb 2016 Disease Laryngeal carcinoma Human Phenotype Ontology C0595989 HP:0012118 16 Feb 2016 Finding Laryngeal cartilage cancer MONDO C0153486 MONDO:0001691 17 Apr 2020 Disease Laryngeal cartilage malformation Human Phenotype Ontology C4021530 HP:0008752 16 Feb 2016 Finding Laryngeal cleft Human Phenotype Ontology C1840311 HP:0008751 16 Feb 2016 Finding Laryngeal cyst Human Phenotype Ontology C0339880 HP:0100640 16 Feb 2016 Finding Laryngeal diphtheria MONDO C0012557 MONDO:0020863 04 Jun 2020 Infectious disease Laryngeal disease MONDO C0023051 MONDO:0004382 17 Apr 2020 Disease Laryngeal dystonia Human Phenotype Ontology C1963946 HP:0012049 16 Feb 2016 Finding Laryngeal edema Human Phenotype Ontology C0023052 HP:0012027 16 Feb 2016 Finding Laryngeal granuloma MONDO C0018196 MONDO:0020974 17 Apr 2020 Disease Laryngeal hypoplasia Human Phenotype Ontology C0431527 HP:0008749 16 Feb 2016 Finding Laryngeal leiomyoma MONDO C1334370 MONDO:0000934 17 Apr 2020 Disease Laryngeal leiomyosarcoma MONDO C1334371 MONDO:0003374 17 Apr 2020 Disease Laryngeal mucoepidermoid carcinoma MONDO C1334373 MONDO:0003095 17 Apr 2020 Disease Laryngeal obstruction Human Phenotype Ontology C0264306 HP:0005945 16 Feb 2016 Finding Laryngeal papillomatosis C0396072 16 Feb 2016 Disease Laryngeal sarcoma MONDO C1334377 MONDO:0002448 17 Apr 2020 Disease Laryngeal small cell carcinoma MONDO C1334378 MONDO:0006265 17 Apr 2020 Disease Laryngeal stenosis Human Phenotype Ontology C0023075 HP:0001602 16 Feb 2016 Finding Laryngeal stridor Human Phenotype Ontology C4551676 HP:0006511 16 Feb 2016 Finding Laryngeal tuberculosis MONDO C0041315 MONDO:0005819 04 Jun 2020 Infectious disease Laryngeal web Human Phenotype Ontology C0281890 HP:0005950 16 Feb 2016 Finding Laryngeal web congenital heart disease short stature 16 Feb 2016 Disease Laryngeal web, familial NCBI curation C1835494 150360 16 Feb 2016 Disease Laryngitis MONDO C0023067 MONDO:0002647 17 Apr 2020 Disease Laryngo-onycho-cutaneous syndrome MONDO C1328355 MONDO:0009513 245660 22 Apr 2020 Disease Laryngocele C0265761 16 Feb 2016 Disease Laryngomalacia Human Phenotype Ontology C0264303 HP:0001601 150280 16 Feb 2016 Disease Laryngospasm Human Phenotype Ontology C0023066 HP:0025425 04 Apr 2018 Finding Laryngospasm, severe neonatal episodic NCBI curation 16 Feb 2016 Disease Laryngotracheal angioma MONDO C3839574 MONDO:0015317 17 Apr 2020 Disease Laryngotracheal stenosis Human Phenotype Ontology C3806280 HP:0004894 16 Feb 2016 Finding Laryngotracheitis MONDO C0023076 MONDO:0000263 04 Jun 2020 Infectious disease Laryngotracheoesophageal cleft type 0 MONDO CN202702 MONDO:0017220 17 Apr 2020 Disease Laryngotracheoesophageal cleft type 1 MONDO CN206696 MONDO:0019761 17 Apr 2020 Disease Laryngotracheoesophageal cleft type 2 MONDO CN206697 MONDO:0019762 17 Apr 2020 Disease Laryngotracheoesophageal cleft type 4 MONDO CN206699 MONDO:0019764 17 Apr 2020 Disease Laryngotracheomalacia Human Phenotype Ontology C0585984 HP:0008755 16 Feb 2016 Finding Larynx anomaly MONDO CN226693 MONDO:0015504 17 Apr 2020 Disease Larynx atresia 16 Feb 2016 Disease Larynx cancer MONDO C0007107 MONDO:0002352 17 Apr 2020 Disease Larynx carcinoma in situ MONDO C0154069 MONDO:0004696 17 Apr 2020 Disease Larynx liposarcoma MONDO C1334372 MONDO:0003588 17 Apr 2020 Disease Larynx squamous papilloma MONDO C0240164 MONDO:0000935 17 Apr 2020 Disease larynx thickened with nodules 13 Feb 2020 Finding Larynx verrucous carcinoma MONDO C0280328 MONDO:0002766 17 Apr 2020 Disease Larynx, congenital partial atresia of C1835555 150300 16 Feb 2016 Disease Lassa fever MONDO C0023092 MONDO:0005820 04 Jun 2020 Infectious disease Lassa virus infectious disease MONDO C1617072 MONDO:0044750 04 Jun 2020 Infectious disease Lassueur-Graham-Little syndrome 16 Feb 2016 Disease latanoprost response - Efficacy PharmGKB CN236563 1444667668 18 May 2016 Pharmacological response Late congenital syphilis MONDO C0554634 MONDO:0005821 04 Jun 2020 Infectious disease Late latent syphilis MONDO C1260915 MONDO:0040923 04 Jun 2020 Infectious disease Late onset atopic dermatitis Human Phenotype Ontology C4024843 HP:0007573 16 Feb 2016 Finding Late onset congenital glaucoma Human Phenotype Ontology C1856441 HP:0008041 16 Feb 2016 Finding Late spermatogenesis maturation arrest Human Phenotype Ontology C4476926 HP:0031040 04 Apr 2018 Finding Late yaws MONDO C1517744 MONDO:0001066 04 Jun 2020 Infectious disease Late-infantile neuronal ceroid lipofuscinosis C0022340 16 Feb 2016 Disease Late-onset ataxia with dementia MONDO CN229276 MONDO:0020140 17 Apr 2020 Disease Late-onset distal muscle weakness Human Phenotype Ontology C4025565 HP:0003810 16 Feb 2016 Finding Late-Onset Familial Alzheimer Disease CN043623 16 Feb 2016 Disease Late-onset focal dermal elastosis MONDO C4751167 MONDO:0016437 17 Apr 2020 Disease Late-onset isolated ACTH deficiency MONDO C4751433 MONDO:0016042 17 Apr 2020 Disease Late-onset junctional epidermolysis bullosa MONDO C4304724 MONDO:0019309 17 Apr 2020 Disease Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome MONDO C1856969 MONDO:0009177 226440 17 Apr 2020 Disease Late-onset muscular dystrophy Human Phenotype Ontology C4024942 HP:0007081 16 Feb 2016 Finding Late-onset nephronophthisis MONDO CN206656 MONDO:0019742 17 Apr 2020 Disease Late-onset proximal muscle weakness Human Phenotype Ontology C4025578 HP:0003694 16 Feb 2016 Finding Late-onset retinal degeneration NCBI curation C1854065 605670 16 Feb 2016 Disease Late-onset scapuloperoneal muscular dystrophy with hyaline bodies MONDO CN237548 MONDO:0018549 17 Apr 2020 Disease Late-onset spinocerebellar degeneration Human Phenotype Ontology C1856604 HP:0006904 16 Feb 2016 Finding Latent early syphilis MONDO C0275842 MONDO:0040922 04 Jun 2020 Infectious disease Latent syphilis MONDO C0039133 MONDO:0005822 04 Jun 2020 Infectious disease Latent yaws MONDO C0153240 MONDO:0040925 04 Jun 2020 Infectious disease Lateral body wall defect 16 Feb 2016 Disease Lateral clavicle hook Human Phenotype Ontology C0426805 HP:0000895 16 Feb 2016 Finding Lateral cystocele MONDO C2711750 MONDO:0001885 17 Apr 2020 Disease Lateral displacement of eye MONDO C0155272 MONDO:0001510 17 Apr 2020 Disease Lateral displacement of patellae Human Phenotype Ontology C1860156 HP:0006397 16 Feb 2016 Finding Lateral displacement of the femoral head Human Phenotype Ontology C1855758 HP:0006453 16 Feb 2016 Finding Lateral femoral bowing Human Phenotype Ontology C1866737 HP:0005090 16 Feb 2016 Finding Lateral humeral condyle aplasia Human Phenotype Ontology C1833878 HP:0006441 16 Feb 2016 Finding Lateral meningocele syndrome MONDO C1851710 MONDO:0007537 130720 17 Apr 2020 Disease Lateral myocardial infarction MONDO MONDO:0003677 17 Apr 2020 Disease Lateral sclerosis MONDO C0154682 MONDO:0018155 17 Apr 2020 Disease Lateral semicircular canal malformation, familial, with external and middle ear abnormalities C1837314 608814 16 Feb 2016 Disease Lateral sinus thrombosis MONDO C0270639 MONDO:0002693 17 Apr 2020 Disease Lateral venous anomaly Human Phenotype Ontology C4020945 HP:0100885 16 Feb 2016 Finding Lateral ventricle meningioma MONDO C1334380 MONDO:0003775 17 Apr 2020 Disease lateral ventricular asymmetry 22 Aug 2019 Finding Laterality defects, autosomal dominant MONDO C1832813 MONDO:0010991 601086 22 Apr 2020 Disease Laterally curved eyebrow Human Phenotype Ontology C1846266 HP:0007733 16 Feb 2016 Finding Laterally deficient tibial plateaux Human Phenotype Ontology C4025563 HP:0003833 16 Feb 2016 Finding Laterally extended eyebrow Human Phenotype Ontology C4023451 HP:0011230 16 Feb 2016 Finding Laterally sloping humeral metaphysis Human Phenotype Ontology C4025506 HP:0003921 16 Feb 2016 Finding Latex allergy MONDO C0577628 MONDO:0000807 17 Apr 2020 Disease Lathosterolosis NCBI curation C1846421 607330 04 Jun 2020 Disease Lathyrism 16 Feb 2016 Disease Lattice corneal dystrophy Human Phenotype Ontology C0155127 HP:0001149 16 Feb 2016 Finding Lattice corneal dystrophy Type I C1690006 122200 16 Feb 2016 Disease Lattice corneal dystrophy Type II NCBI curation 16 Feb 2016 Disease Lattice corneal dystrophy Type III NCBI curation C0339273 204870 16 Feb 2016 Disease Lattice degeneration of retina leading to retinal detachment NCBI curation C1835491 150500 16 Feb 2016 Disease Lattice retinal degeneration Human Phenotype Ontology C0154856 HP:0007992 16 Feb 2016 Finding Laubry-Pezzi syndrome MONDO C4707235 MONDO:0020427 17 Apr 2020 Disease Laugier-Hunziker syndrome C0406425 16 Feb 2016 Disease Launois-Bensaude adenolipomatosis 16 Feb 2016 Disease Laurence-Moon syndrome C0023138 245800 16 Feb 2016 Disease Laurence-Prosser-Rocker syndrome MONDO C2931651 MONDO:0023607 22 Apr 2020 Disease Laurin-Sandrow syndrome MONDO C1851100 MONDO:0007615 135750 17 Apr 2020 Disease Laurin-Sandrow syndrome, segmental NCBI curation 16 Feb 2016 Disease Lax palmar skin CN235259 19 Feb 2016 Finding laxity of fingers of the hand 05 Sep 2018 Finding laxity of ligaments 05 Sep 2019 Finding Lazy leukocyte syndrome C0272174 150550 16 Feb 2016 Disease LBWD syndrome 16 Feb 2016 Disease LCHAD Deficiency CN239369 02 Dec 2016 Disease Lchad deficiency with maternal acute fatty liver of pregnancy NCBI curation C1833202 16 Feb 2016 Disease Le Marec-Bracq-Picaud syndrome MONDO C2931385 MONDO:0023609 22 Apr 2020 Disease Le(-) PHENOTYPE 16 Feb 2016 Disease Lead poisoning MONDO MONDO:0018019 17 Apr 2020 Disease Lead poisoning, susceptibility to NCBI curation 16 Feb 2016 Disease Leakage of dye on fundus fluorescein angiography Human Phenotype Ontology C4476700 HP:0025320 02 Apr 2017 Finding leaky SCID CN238516 24 Sep 2016 Finding Leaky severe combined immune deficiency CN262220 26 Aug 2019 Disease Lean body mass quantitative trait locus 1 NCBI curation C2674799 612729 16 Feb 2016 Disease Leanness, inherited NCBI curation C0039870 16 Feb 2016 Disease Leanness, susceptibility to NCBI curation 16 Feb 2016 Disease Leao Ribeiro Da Silva syndrome 16 Feb 2016 Disease Learning difficulties NCBI curation C0424939 16 Feb 2016 Finding Learning difficulty 08 Sep 2017 Disease learning disabilities CN229495 16 Feb 2016 Disease learning disorder 05 Sep 2019 Finding learning disorder reading 05 Sep 2019 Finding learning disorder writing 05 Sep 2019 Finding learning impairment CN228660 16 Feb 2016 Finding learning problems 18 Jan 2019 Finding Leather-bottle stomach MONDO C0023743 MONDO:0002839 17 Apr 2020 Disease Leber congenital amaurosis OMIM phenotypic series C0339527 PS204000 04 Sep 2016 Disease Leber congenital amaurosis 1 NCBI curation C2931258 204000 16 Feb 2016 Disease Leber congenital amaurosis 10 NCBI curation C1857821 611755 16 Feb 2016 Disease Leber congenital amaurosis 11 NCBI curation C1840284 613837 16 Feb 2016 Disease Leber congenital amaurosis 12 NCBI curation C1857743 610612 16 Feb 2016 Disease Leber congenital amaurosis 13 NCBI curation C2675186 612712 16 Feb 2016 Disease Leber congenital amaurosis 14 NCBI curation C2750063 613341 16 Feb 2016 Disease Leber congenital amaurosis 15 NCBI curation C3151206 613843 16 Feb 2016 Disease Leber congenital amaurosis 16 NCBI curation C3280062 614186 16 Feb 2016 Disease Leber congenital amaurosis 17 NCBI curation C3715164 615360 16 Feb 2016 Disease Leber congenital amaurosis 18 NCBI curation C4013102 16 Feb 2016 Disease LEBER CONGENITAL AMAUROSIS 19 OMIM C5193139 618513 618513 26 Jul 2019 Disease Leber congenital amaurosis 2 NCBI curation C1859844 204100 16 Feb 2016 Disease Leber congenital amaurosis 3 NCBI curation C1858677 604232 16 Feb 2016 Disease Leber congenital amaurosis 4 NCBI curation C1858386 604393 16 Feb 2016 Disease Leber congenital amaurosis 5 NCBI curation C1858301 604537 16 Feb 2016 Disease Leber congenital amaurosis 6 NCBI curation C1854260 613826 16 Feb 2016 Disease Leber congenital amaurosis 7 NCBI curation C3151192 613829 16 Feb 2016 Disease Leber congenital amaurosis 8 NCBI curation C3151202 613835 16 Feb 2016 Disease Leber congenital amaurosis 9 NCBI curation C1837873 608553 16 Feb 2016 Disease LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS OMIM C4693498 617879 617879 18 Feb 2018 Disease Leber miliary aneurysm 16 Feb 2016 Disease Leber optic atrophy and dystonia MONDO C1839040 MONDO:0010772 500001 17 Apr 2020 Disease Leber optic atrophy, susceptibility to NCBI curation C1839891 308905 16 Feb 2016 Disease Leber plus disease Orphanet C4304725 ORPHA99718 26 Feb 2017 Disease Leber's optic atrophy C0917796 535000 16 Feb 2016 Disease Lectin complement activation pathway defect NCBI curation CN238504 22 Sep 2016 Disease Ledderhose disease C0158360 16 Feb 2016 Disease Left anophthalmia 22 Jun 2020 Finding Left anterior fascicular block Human Phenotype Ontology C0264912 HP:0011711 16 Feb 2016 Finding Left aortic arch with cervical origin of the right subclavian artery Human Phenotype Ontology C4023281 HP:0011591 16 Feb 2016 Finding Left aortic arch with isolated subclavian artery Human Phenotype Ontology C4023280 HP:0011592 16 Feb 2016 Finding Left aortic arch with retroesophageal diverticulum of Kommerell Human Phenotype Ontology C0265885 HP:0011593 16 Feb 2016 Finding Left aortic arch with retroesophageal right subclavian artery Human Phenotype Ontology C4023278 HP:0011595 16 Feb 2016 Finding Left aortic arch with right descending aorta and right ductus arteriosus Human Phenotype Ontology C4023277 HP:0011596 16 Feb 2016 Finding Left atrial enlargement Human Phenotype Ontology C0238705 HP:0031295 04 Apr 2018 Finding Left atrial isomerism Human Phenotype Ontology C3178807 HP:0011537 16 Feb 2016 Finding Left bundle branch block Human Phenotype Ontology C0023211 HP:0011713 16 Feb 2016 Finding left clubfoot 08 May 2020 Finding left diaphragmatic hernia 02 Mar 2020 Finding Left ear abnormality 22 Jun 2020 Finding left foot valgus 22 Aug 2019 Finding Left genu recurvatum NCBI curation CN240898 08 Mar 2017 Finding left hemiparesis C0457436 18 Jan 2019 Finding Left hemiplegia Human Phenotype Ontology C0457434 HP:0040292 04 Apr 2018 Finding left multicystic dyplastic kidney 10 Jun 2020 Finding left multicystic dysplastic kidney 10 Jun 2020 Finding Left posterior fascicular block Human Phenotype Ontology C0264913 HP:0005172 02 Apr 2017 Finding left side weakness 05 Sep 2019 Finding Left superior vena cava CN234583 16 Feb 2016 Finding Left superior vena cava draining directly to the left atrium Human Phenotype Ontology C4023238 HP:0011669 16 Feb 2016 Finding Left superior vena cava draining to coronary sinus Human Phenotype Ontology C2677768 HP:0011670 16 Feb 2016 Finding Left superior vena cava persisting to left-sided atrium MONDO CN207304 MONDO:0020442 17 Apr 2020 Disease Left temporal arachnoid cyst 23 Jan 2020 Finding Left unicoronal synostosis Human Phenotype Ontology C4023417 HP:0011316 16 Feb 2016 Finding Left unilambdoid synostosis Human Phenotype Ontology C4023415 HP:0011321 16 Feb 2016 Finding Left ventricle-aorta tunnel 16 Feb 2016 Disease Left ventricular diastolic dysfunction Human Phenotype Ontology C1273070 HP:0025168 02 Apr 2017 Finding left ventricular dilation 07 Nov 2019 Finding left ventricular dysfunction C0242698 18 Jan 2019 Finding Left ventricular failure Human Phenotype Ontology C0023212 HP:0005162 02 Apr 2017 Finding Left ventricular hypertrophy Human Phenotype Ontology C0149721 HP:0001712 16 Feb 2016 Finding Left ventricular noncompaction OMIM phenotypic series C1960469 PS604169 16 Feb 2016 Disease Left ventricular noncompaction Human Phenotype Ontology C1960469 HP:0030682 16 Feb 2016 Disease Left ventricular noncompaction 1 NCBI curation C1858725 604169 16 Feb 2016 Disease Left ventricular noncompaction 10 NCBI curation C3715165 615396 16 Feb 2016 Disease Left ventricular noncompaction 2 NCBI curation C1836118 609470 16 Feb 2016 Disease Left ventricular noncompaction 3 NCBI curation C3152137 16 Feb 2016 Disease Left Ventricular Noncompaction 3, with or without Dilated Cardiomyopathy CN230139 16 Feb 2016 Disease Left ventricular noncompaction 4 NCBI curation C3150682 16 Feb 2016 Disease Left ventricular noncompaction 5 NCBI curation C3150690 16 Feb 2016 Disease Left ventricular noncompaction 6 NCBI curation C1832243 601494 16 Feb 2016 Disease Left ventricular noncompaction 7 NCBI curation C3554496 615092 16 Feb 2016 Disease Left ventricular noncompaction 8 NCBI curation C3809288 615373 16 Feb 2016 Disease Left ventricular noncompaction 9 NCBI curation C3808145 16 Feb 2016 Disease Left ventricular noncompaction cardiomyopathy Human Phenotype Ontology C4021133 HP:0011664 04 Apr 2020 Disease left ventricular outflow tract obstruction C0344917 18 Jan 2019 Finding Left Ventricular Outflow Tract Obstruction (LVOTO) CN118831 16 Feb 2016 Disease Left ventricular septal hypertrophy Human Phenotype Ontology C0344955 HP:0005144 16 Feb 2016 Finding Left ventricular systolic dysfunction Human Phenotype Ontology C1277187 HP:0025169 02 Apr 2017 Finding Left ventricular thrombus C0587044 12 Sep 2019 Finding left vureflux 05 Sep 2019 Finding Left-right axis malformations NCBI curation C1866091 16 Feb 2016 Disease Left-sided congenital diaphragmatic hernia 28 Jun 2019 Finding Left-sided gallbladder 16 Feb 2016 Disease Left-to-right shunt Human Phenotype Ontology C0428870 HP:0012382 16 Feb 2016 Finding Leg absence deformity cataract 16 Feb 2016 Disease Leg dermatosis MONDO C0023219 MONDO:0006569 17 Apr 2020 Disease Leg muscle stiffness Human Phenotype Ontology C4024610 HP:0008969 16 Feb 2016 Finding leg numbness 05 Sep 2019 Finding Leg ulcers, familial, of juvenile onset NCBI curation C1835489 150590 16 Feb 2016 Disease Leg, absence deformity of, with congenital cataract NCBI curation C1855523 246000 16 Feb 2016 Disease Legionellosis C1837872 608556 16 Feb 2016 Disease Legionnaires' disease MONDO C0023241 MONDO:0005824 04 Jun 2020 Infectious disease Legius syndrome C1969623 611431 16 Feb 2016 Disease Leichtman Wood Rohn syndrome 16 Feb 2016 Disease Leifer Lai Buyse syndrome 16 Feb 2016 Disease Leigh syndrome Orphanet C0023264 ORPHA506 256000 16 Feb 2016 Disease Leigh Syndrome (mtDNA mutation) CN230159 16 Feb 2016 Disease Leigh Syndrome (nuclear DNA mutation) CN043625 16 Feb 2016 Disease Leigh syndrome due to COX IV deficiency 25 Aug 2017 Disease Leigh syndrome due to mitochondrial complex I deficiency NCBI curation C1838951 16 Feb 2016 Disease Leigh syndrome due to mitochondrial complex II deficiency NCBI curation C1850597 16 Feb 2016 Disease Leigh syndrome due to mitochondrial complex III deficiency NCBI curation C1850598 16 Feb 2016 Disease Leigh syndrome due to mitochondrial complex IV deficiency NCBI curation C1850599 03 Jan 2018 Disease Leigh syndrome due to mitochondrial complex V deficiency NCBI curation C1850600 16 Feb 2016 Disease Leigh syndrome with cardiomyopathy MONDO CN205578 MONDO:0019083 17 Apr 2020 Disease Leigh syndrome with leukodystrophy MONDO CN202083 MONDO:0016815 17 Apr 2020 Disease Leigh syndrome with nephrotic syndrome MONDO C5190833 MONDO:0016816 17 Apr 2020 Disease Leiner disease C0343047 609536 16 Feb 2016 Disease Leiomyoma MONDO C0023267 MONDO:0001572 17 Apr 2020 Disease Leiomyoma of ciliary body MONDO C0346386 MONDO:0021273 17 Apr 2020 Disease Leiomyoma of vulva and esophagus C1835488 150700 16 Feb 2016 Disease Leiomyomatosis MONDO C0206654 MONDO:0003295 17 Apr 2020 Disease Leiomyomatosis of esophagus, cataract and hematuria 16 Feb 2016 Disease Leiomyosarcoma Human Phenotype Ontology C0023269 HP:0100243 16 Feb 2016 Disease Leiomyosarcoma of the cervix uteri MONDO C4289817 MONDO:0016283 17 Apr 2020 Disease Leishmaniasis Orphanet C0023281 ORPHA507 16 Feb 2016 Infectious disease Leishmaniasis, diffuse cutaneous MONDO C0085311 MONDO:0043904 04 Jun 2020 Infectious disease Leisti Hollister Rimoin syndrome 16 Feb 2016 Disease Lelis syndrome C1842307 608290 16 Feb 2016 Disease Lenalidomide response CN077993 16 Feb 2016 Pharmacological response Lenegre disease 16 Feb 2016 Disease Lennox-Gastaut syndrome NCBI curation C0238111 12 Sep 2018 Disease Lens and zonula anomaly MONDO CN227827 MONDO:0020223 17 Apr 2020 Disease Lens coloboma Human Phenotype Ontology C0344516 HP:0100719 16 Feb 2016 Finding Lens luxation Human Phenotype Ontology C0023309 HP:0012019 16 Feb 2016 Finding Lens position anomaly MONDO CN227833 MONDO:0020236 17 Apr 2020 Disease Lens shape anomaly MONDO CN207062 MONDO:0020237 17 Apr 2020 Disease Lens size anomaly MONDO CN227832 MONDO:0020235 17 Apr 2020 Disease Lens subluxation Human Phenotype Ontology C0023316 HP:0001132 16 Feb 2016 Finding Lens-induced iridocyclitis MONDO C0339320 MONDO:0004775 17 Apr 2020 Disease Lenticonus Human Phenotype Ontology C0239119 HP:0001142 16 Feb 2016 Finding lenticulostriate vasculopathy 22 Mar 2019 Finding Lentigines NCBI curation C0023321 150900 16 Feb 2016 Disease Lentiginosis, centrofacial neurodysraphic NCBI curation C1835484 151000 16 Feb 2016 Disease Lentiginosis, inherited patterned NCBI curation C3492944 151001 16 Feb 2016 Disease Lentiglobus Human Phenotype Ontology C1622439 HP:0011527 16 Feb 2016 Finding Lentigo maligna melanoma Human Phenotype Ontology C2739810 HP:0012059 16 Feb 2016 Disease Lentivirus infection MONDO C0079680 MONDO:0022034 04 Jun 2020 Infectious disease Lenz microphthalmia syndrome C0796016 309800 16 Feb 2016 Disease Lenz-Majewski hyperostosis syndrome C0432269 151050 16 Feb 2016 Disease LEOPARD syndrome 1 NCBI curation C4551484 151100 16 Feb 2016 Disease LEOPARD syndrome 2 NCBI curation C1969056 611554 16 Feb 2016 Disease LEOPARD syndrome 3 NCBI curation C3150971 613707 16 Feb 2016 Disease LEPR-Related Disorders 23 May 2019 Disease Leprechaunism syndrome C0265344 246200 16 Feb 2016 Disease Lepromatous leprosy MONDO C0023348 MONDO:0005127 04 Jun 2020 Infectious disease Leprosy C0023343 16 Feb 2016 Infectious disease Leprosy 1 NCBI curation C1835932 609888 16 Feb 2016 Disease Leprosy 2 NCBI curation C1843632 607572 16 Feb 2016 Disease Leprosy 3 NCBI curation C1968668 246300 16 Feb 2016 Disease Leprosy 4 NCBI curation C1970254 610988 16 Feb 2016 Disease Leprosy 5 NCBI curation C2750733 613223 16 Feb 2016 Disease Leprosy 6 NCBI curation C3150676 613407 16 Feb 2016 Disease Leprosy, early-onset, susceptibility to NCBI curation C2750103 16 Feb 2016 Disease Leprosy, protection against NCBI curation C2750734 26 May 2016 Disease Leptin deficiency or dysfunction NCBI curation C3554224 614962 24 Aug 2016 Disease Leptin dysfunction NCBI curation C4016279 26 May 2016 Disease Leptin receptor deficiency NCBI curation C3554225 614963 16 Feb 2016 Disease LEPTIN RECEPTOR POLYMORPHISM 16 Feb 2016 Disease Leptin, serum level of, quantitative trait locus 1 NCBI curation C1866431 601694 16 Feb 2016 Disease Leptomeningeal melanoma MONDO C1334386 MONDO:0003761 17 Apr 2020 Disease Leptomeningeal sarcoma MONDO C1384416 MONDO:0004330 17 Apr 2020 Disease Leptomyelolipoma MONDO C4749649 MONDO:0017084 17 Apr 2020 Disease Leptospirosis C0023364 16 Feb 2016 Infectious disease Leri pleonosteosis C1835450 151200 16 Feb 2016 Disease Leri-Weill dyschondrosteosis MONDO C0265309 MONDO:0007481 127300 22 Apr 2020 Disease Leriche syndrome MONDO C0023370 MONDO:0043683 17 Apr 2020 Disease Lesch-nyhan phenotype with normal hgprt NCBI curation C1839883 308950 26 May 2016 Disease Lesch-Nyhan syndrome NCBI curation C0023374 300322 16 Feb 2016 Disease Lesch-nyhan syndrome, neurologic variant NCBI curation C1845892 16 Feb 2016 Disease Lesinurad response NCBI curation CN248784 03 Jul 2018 Pharmacological response Lesion of sciatic nerve MONDO C0154748 MONDO:0001543 17 Apr 2020 Disease LESSEL-KUBISCH SYNDROME OMIM C5231460 618681 618681 28 Nov 2019 Disease Lester's sign Human Phenotype Ontology C4024210 HP:0009781 16 Feb 2016 Finding Lethal acantholytic epidermolysis bullosa MONDO C1864826 MONDO:0012323 609638 22 Apr 2020 Disease Lethal arteriopathy syndrome due to fibulin-4 deficiency MONDO C5190604 MONDO:0017818 17 Apr 2020 Disease Lethal arthrogryposis with anterior horn cell disease NCBI curation C5193016 611890 16 Feb 2016 Disease Lethal chondrodysplasia MONDO CN229217 MONDO:0019718 17 Apr 2020 Disease Lethal chondrodysplasia Seller type 16 Feb 2016 Disease Lethal chondrodysplasia, Moerman type MONDO MONDO:0015424 22 Apr 2020 Disease Lethal congenital contractural syndrome 2 CN260094 20 Jun 2019 Disease Lethal congenital contractural syndrome 3 NCBI curation C1969655 611369 16 Feb 2016 Disease Lethal congenital contracture syndrome OMIM phenotypic series CN239241 PS253310 21 Dec 2019 Disease Lethal congenital contracture syndrome 1 C1854664 253310 16 Feb 2016 Disease Lethal congenital contracture syndrome 10 NCBI curation C4310760 617022 24 Aug 2016 Disease Lethal congenital contracture syndrome 11 NCBI curation C4310670 617194 20 Jun 2017 Disease Lethal congenital contracture syndrome 2 C1843478 607598 16 Feb 2016 Disease Lethal congenital contracture syndrome 4 NCBI curation C3554046 614915 16 Feb 2016 Disease Lethal congenital contracture syndrome 5 NCBI curation C3809272 615368 16 Feb 2016 Disease Lethal congenital contracture syndrome 6 NCBI curation C4015686 616248 16 Feb 2016 Disease Lethal congenital contracture syndrome 7 NCBI curation C4225386 616286 16 Feb 2016 Disease Lethal congenital contracture syndrome 8 NCBI curation C4225385 616287 16 Feb 2016 Disease Lethal congenital contracture syndrome 9 NCBI curation C4225303 616503 19 Mar 2016 Disease Lethal cystic kidney disease 20 Jun 2019 Finding Lethal Encephalopathy CN239368 02 Dec 2016 Disease Lethal hemolytic anemia-genital anomalies syndrome MONDO C1838120 MONDO:0010891 600461 17 Apr 2020 Disease Lethal hydranencephaly-diaphragmatic hernia syndrome MONDO CN776878 MONDO:0018810 17 Apr 2020 Disease Lethal idiopathic viral infection MONDO CN281665 MONDO:0018110 04 Jun 2020 Infectious disease Lethal infantile mitochondrial myopathy Human Phenotype Ontology C1838876 HP:0009069 551000 04 Apr 2018 Disease Lethal Kniest-like dysplasia MONDO C1855605 MONDO:0009498 245190 22 Apr 2020 Disease Lethal Kniest-like syndrome C0432208 224410 16 Feb 2016 Disease Lethal multiple congenital anomalies/dysmorphic syndrome MONDO CN242114 MONDO:0018731 17 Apr 2020 Disease Lethal multiple pterygium syndrome C1854678 253290 16 Feb 2016 Disease Lethal omphalocele-cleft palate syndrome MONDO C1850317 MONDO:0009780 258320 22 Apr 2020 Disease Lethal osteosclerotic bone dysplasia MONDO C1850106 MONDO:0009821 259775 17 Apr 2020 Disease Lethal polycystic kidney disease CN238732 19 Oct 2016 Finding Lethal polycystic kidney disease with positive family history CN238731 19 Oct 2016 Finding Lethal short-limb skeletal dysplasia, Al Gazali type MONDO C1832435 MONDO:0011051 601356 22 Apr 2020 Disease Lethal short-limbed short stature Human Phenotype Ontology C2674171 HP:0008909 16 Feb 2016 Finding Lethal short-trunk short stature Human Phenotype Ontology C4021151 HP:0011404 16 Feb 2016 Finding Lethal skeletal dysplasia Human Phenotype Ontology C4021626 HP:0005716 16 Feb 2016 Finding Lethal tight skin contracture syndrome C0406585 275210 16 Feb 2016 Disease Lethargy Human Phenotype Ontology C0023380 HP:0001254 16 Feb 2016 Finding Letterer-siwe disease NCBI curation C0023381 246400 16 Feb 2016 Disease Leucine-induced hypoglycemia C0271714 240800 16 Feb 2016 Disease Leucocyte adhesion defect 16 Feb 2016 Disease Leucocytoclastic vasculitis 31 Aug 2018 Finding Leucoencephalopathy 29 Sep 2017 Finding leucovorin response - Toxicity/ADR PharmGKB CN236600 981204941 18 May 2016 Pharmacological response Leukemia Human Phenotype Ontology C0023418 HP:0001909 16 Feb 2016 Finding Leukemia, acute lymphoblastic 1 NCBI curation 16 Feb 2016 Disease Leukemia, acute lymphoblastic 2 NCBI curation C2751593 613067 16 Feb 2016 Disease Leukemia, acute lymphoblastic, b-hyperdiploid, susceptibility to NCBI curation 16 Feb 2016 Disease Leukemia, acute lymphoblastic, susceptibility to NCBI curation CN070080 16 Feb 2016 Disease Leukemia, acute lymphoblastic, susceptibility to, 3 NCBI curation C3809874 615545 16 Feb 2016 Disease Leukemia, acute lymphocytic 1 NCBI curation 16 Feb 2016 Disease LEUKEMIA, ACUTE LYMPHOCYTIC, SUSCEPTIBILITY TO, 1 C2751595 12 Aug 2017 Disease Leukemia, acute myelocytic, with polyposis coli and colon cancer NCBI curation C1855505 246470 16 Feb 2016 Disease Leukemia, acute myeloid, m0 subtype NCBI curation C1835434 16 Feb 2016 Disease Leukemia, acute myeloid, reduced survival in NCBI curation 16 Feb 2016 Disease Leukemia, acute myeloid, susceptibility to NCBI curation C3275959 16 Feb 2016 Disease Leukemia, acute, ?X-linked NCBI curation C3501854 308960 16 Feb 2016 Disease Leukemia, B-cell acute lymphoblastic, susceptibility to NCBI curation 16 Feb 2016 Disease Leukemia, chronic lymphocytic 1 NCBI curation C1864995 609630 16 Feb 2016 Disease Leukemia, chronic lymphocytic 2 NCBI curation C1868683 109543 16 Feb 2016 Disease Leukemia, chronic lymphocytic 3 NCBI curation C2675516 612557 16 Feb 2016 Disease Leukemia, chronic lymphocytic 4 NCBI curation C2675515 612558 16 Feb 2016 Disease LEUKEMIA, CHRONIC LYMPHOCYTIC, SOMATIC 12 Mar 2020 Disease Leukemia, chronic lymphocytic, susceptibility to, 5 NCBI curation C2675514 612559 24 Aug 2016 Disease Leukemia, feline MONDO C0085164 MONDO:0025488 17 Apr 2020 Disease Leukemia, megakaryoblastic, of Down syndrome NCBI curation C1860789 16 Feb 2016 Disease Leukemia, myeloid, accelerated-phase MONDO C0023472 MONDO:0021367 17 Apr 2020 Disease LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATANIB CN261028 24 Jul 2019 Disease Leukemia, Philadelphia chromosome-positive, resistant to imatinib NCBI curation C4016396 06 Mar 2016 Disease Leukemia, post-chemotherapy, susceptibility to NCBI curation C2675719 16 Feb 2016 Disease Leukemia, T-cell, chronic 16 Feb 2016 Disease Leukemia-Lymphoma, Adult T-Cell NCBI curation C0023493 02 Mar 2017 Disease Leukemia/lymphoma, b-cell, 2 NCBI curation C3887918 24 Jul 2019 Disease Leukemoid Reaction NCBI curation C0023501 02 Mar 2017 Disease Leukocoria Human Phenotype Ontology C0152458 HP:0000555 16 Feb 2016 Finding Leukocyte adhesion deficiency NCBI curation C0272187 16 Feb 2016 Disease Leukocyte adhesion deficiency 1 MONDO C0398738 MONDO:0007293 116920 22 Apr 2020 Disease Leukocyte adhesion deficiency type II MONDO C0398739 MONDO:0009953 266265 22 Apr 2020 Disease Leukocyte adhesion deficiency, type III NCBI curation C2748536 612840 15 Nov 2018 Disease Leukocyte cylindruria Human Phenotype Ontology C4022819 HP:0012616 16 Feb 2016 Finding Leukocyte disease MONDO C0023510 MONDO:0004805 17 Apr 2020 Disease Leukocyte inclusion bodies Human Phenotype Ontology C4280711 HP:0040235 02 Apr 2017 Finding Leukocyte nuclear appendages, hereditary prevalence of NCBI curation C1835405 151500 16 Feb 2016 Disease Leukocytosis Human Phenotype Ontology C0023518 HP:0001974 16 Feb 2016 Finding Leukodystrophy Human Phenotype Ontology C0023520 HP:0002415 16 Feb 2016 Disease Leukodystrophy and acquired microcephaly with or without dystonia NCBI curation C4225213 616763 16 Feb 2016 Disease Leukodystrophy reunion type 16 Feb 2016 Disease Leukodystrophy, Adult-Onset CN239186 02 Dec 2016 Disease Leukodystrophy, adult-onset, autosomal dominant NCBI curation C1868512 169500 16 Feb 2016 Disease Leukodystrophy, hypomyelinating, 10 NCBI curation C4225332 616420 16 Feb 2016 Disease Leukodystrophy, hypomyelinating, 11 NCBI curation C4225305 616494 16 Feb 2016 Disease Leukodystrophy, hypomyelinating, 12 NCBI curation C4225247 616683 16 Feb 2016 Disease Leukodystrophy, hypomyelinating, 13 NCBI curation C4225170 616881 13 Aug 2017 Disease LEUKODYSTROPHY, HYPOMYELINATING, 14 OMIM C4693535 617899 617899 07 Mar 2018 Disease LEUKODYSTROPHY, HYPOMYELINATING, 15 OMIM C4693733 617951 617951 04 May 2018 Disease LEUKODYSTROPHY, HYPOMYELINATING, 16 OMIM C4693779 617964 617964 10 May 2018 Disease LEUKODYSTROPHY, HYPOMYELINATING, 17 OMIM C4693912 618006 618006 07 Jun 2018 Disease LEUKODYSTROPHY, HYPOMYELINATING, 18 OMIM C5193078 618404 618404 02 May 2019 Disease LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE OMIM C5231463 618688 618688 11 Dec 2019 Disease Leukodystrophy, hypomyelinating, 2 NCBI curation C1837355 608804 16 Feb 2016 Disease Leukodystrophy, hypomyelinating, 4 NCBI curation C2677109 612233 16 Feb 2016 Disease Leukodystrophy, hypomyelinating, 6 NCBI curation C2676244 612438 16 Feb 2016 Disease Leukodystrophy, hypomyelinating, 9 NCBI curation C4015323 616140 16 Feb 2016 Disease Leukodystrophy, psuedometachromatic 16 Feb 2016 Disease Leukoencephalopathy Human Phenotype Ontology C0270612 HP:0002352 16 Feb 2016 Disease Leukoencephalopathy palmoplantar keratoderma 16 Feb 2016 Disease Leukoencephalopathy with ataxia NCBI curation C4554120 615651 16 Feb 2016 Disease Leukoencephalopathy with Ataxia due to ClC-2 Deficiency CN229794 16 Feb 2016 Disease Leukoencephalopathy with axenfeld-rieger anomaly NCBI curation 16 Feb 2016 Disease Leukoencephalopathy with bilateral anterior temporal lobe cysts MONDO CN199402 MONDO:0015348 17 Apr 2020 Disease Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation NCBI curation CN230084 08 Apr 2016 Disease Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome MONDO C1970180 MONDO:0012622 611105 17 Apr 2020 Disease Leukoencephalopathy with dystonia and motor neuropathy NCBI curation C3150990 613724 16 Feb 2016 Disease Leukoencephalopathy with neuroaxonal spheroids, autosomal dominant NCBI curation 16 Feb 2016 Disease Leukoencephalopathy with vanishing white matter C1858991 603896 16 Feb 2016 Disease LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE OMIM C5193068 618384 618384 14 Apr 2019 Disease Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema C1837329 608809 16 Feb 2016 Disease Leukoencephalopathy, brain calcifications, and cysts NCBI curation C3281200 614561 16 Feb 2016 Disease Leukoencephalopathy, cerebral calcifications, and cysts 16 Feb 2016 Disease Leukoencephalopathy, cystic, without megalencephaly NCBI curation C2751843 612951 16 Feb 2016 Disease LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME OMIM CN280926 618877 618877 15 May 2020 Disease Leukoencephalopathy, megalencephalic OMIM phenotypic series CN263117 PS604004 09 Jan 2020 Disease LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME OMIM CN280927 618878 618878 15 May 2020 Disease Leukoencephalopathy, progressive, with ovarian failure NCBI curation C4014588 615889 16 Feb 2016 Disease Leukoencephalopathy-palmoplantar keratoderma syndrome MONDO C4749769 MONDO:0016545 17 Apr 2020 Disease Leukomalacia 16 Feb 2016 Disease Leukomelanoderma mental redardation hypotrichosis 16 Feb 2016 Disease Leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis NCBI curation C1855504 246500 16 Feb 2016 Disease Leukonychia Human Phenotype Ontology C0240182 HP:0001820 16 Feb 2016 Finding Leukonychia punctata NCBI curation 16 Feb 2016 Disease Leukonychia striatus NCBI curation 16 Feb 2016 Disease Leukonychia totalis C0544855 151600 16 Feb 2016 Disease Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome MONDO C4751169 MONDO:0016213 17 Apr 2020 Disease Leukopenia Human Phenotype Ontology C0023530 HP:0001882 16 Feb 2016 Finding Leukopenia PharmGKB C0023530 16 Feb 2016 Finding Leukoplakia C0023531 16 Feb 2016 Disease Leukoplakia of gingiva MONDO C0239737 MONDO:0022538 17 Apr 2020 Disease Leukoplakia of penis MONDO C0022782 MONDO:0006830 17 Apr 2020 Disease Leukoplakia of vagina MONDO C0156385 MONDO:0004679 17 Apr 2020 Disease Leukoregulin NCBI curation C1864303 602994 16 Feb 2016 Disease Leukorrhea MONDO MONDO:0002769 17 Apr 2020 Disease Leukostasis MONDO C0282548 MONDO:0006831 17 Apr 2020 Disease Leukotriene c4 synthase deficiency NCBI curation C3279662 614037 16 Feb 2016 Disease Levator palpebrae superioris atrophy Human Phenotype Ontology C1851107 HP:0012241 16 Feb 2016 Finding Levator syndrome 16 Feb 2016 Disease Levator-medial rectus synkinesis NCBI curation C1835403 151610 16 Feb 2016 Disease Levic Stefanovic Nikolic syndrome 16 Feb 2016 Disease Levotransposition of the great arteries Human Phenotype Ontology C1275809 HP:0031349 04 Apr 2018 Disease Levy-Hollister syndrome NCBI curation C0265269 149730 08 Apr 2016 Disease Levy-Yeboa syndrome 16 Feb 2016 Disease Lewandowski Kikolich syndrome 16 Feb 2016 Disease Lewis blood group phenotype NCBI curation C1292156 16 Feb 2016 Blood group Lewis-Sumner syndrome MONDO C1695985 MONDO:0018826 17 Apr 2020 Disease Lewy bodies Human Phenotype Ontology C0085200 HP:0100315 16 Feb 2016 Finding Lewy body dementia NCBI curation C0752347 127750 26 Jun 2020 Disease Lewy body variant of Alzheimer disease NCBI curation 16 Feb 2016 Disease Leydig cell adenoma, somatic, with male-limited precocious puberty NCBI curation C2674612 16 Feb 2016 Disease Leydig cell agenesis NCBI curation C0266432 238320 16 Feb 2016 Disease leydig cell hyperplasia CN860318 13 Mar 2018 Disease Leydig cell hypoplasia due to complete LH resistance MONDO CN206847 MONDO:0019930 17 Apr 2020 Disease Leydig cell hypoplasia due to partial LH resistance MONDO CN206848 MONDO:0019931 17 Apr 2020 Disease Leydig cell hypoplasia, partial NCBI curation C2673497 16 Feb 2016 Disease Leydig cell insensitivity to gonadotropin Human Phenotype Ontology C4025668 HP:0002929 16 Feb 2016 Finding Leydig cell neoplasia Human Phenotype Ontology C4022011 HP:0100618 16 Feb 2016 Finding Leydig cell tumor MONDO C0023601 MONDO:0006266 17 Apr 2020 Disease Leydig hypoplasia, type I NCBI curation C4016252 13 Aug 2017 Disease Lhermitte-Duclos disease NCBI curation C0391826 22 Jan 2017 Disease Lhermitte-Duclos syndrome CN258999 12 Jun 2019 Disease Li-Fraumeni syndrome OMIM phenotypic series C0085390 PS151623 16 Feb 2016 Disease Li-Fraumeni syndrome 1 NCBI curation C1835398 151623 16 Feb 2016 Disease Li-Fraumeni syndrome 2 NCBI curation C1836482 609265 16 Feb 2016 Disease Li-Fraumeni-like syndrome NCBI curation C2675080 16 Feb 2016 Disease LIANG-WANG SYNDROME OMIM C5231479 618729 618729 12 Jan 2020 Disease Liberfarb syndrome NCBI curation CN281158 618889 19 Jun 2020 Disease Libman-Sacks lesions Human Phenotype Ontology C4023221 HP:0011714 16 Feb 2016 Finding Lice infestation MONDO CN281747 MONDO:0003472 04 Jun 2020 Infectious disease Lichen amyloidosis MONDO CN205165 MONDO:0018856 17 Apr 2020 Disease Lichen disease MONDO C0023643 MONDO:0006570 17 Apr 2020 Disease Lichen nitidus MONDO C0162849 MONDO:0006571 17 Apr 2020 Disease Lichen planopilaris C0023645 16 Feb 2016 Disease Lichen planus MONDO C0023646 MONDO:0006572 17 Apr 2020 Disease Lichen planus pemphigoides MONDO C0406369 MONDO:0016775 17 Apr 2020 Disease Lichen planus pigmentosus MONDO C0406366 MONDO:0016774 17 Apr 2020 Disease Lichen planus, familial NCBI curation C1835402 151620 16 Feb 2016 Disease Lichen sclerosus et atrophicus C0023652 151590 16 Feb 2016 Disease Lichenification Human Phenotype Ontology C0023653 HP:0100725 16 Feb 2016 Finding Lichenoid skin lesion Human Phenotype Ontology C4531107 HP:0031452 04 Apr 2018 Finding Lichtenstein syndrome C1855502 246550 16 Feb 2016 Disease Lichtenstein-knorr syndrome NCBI curation C4225383 616291 16 Feb 2016 Disease Liddle syndrome OMIM phenotypic series C0221043 PS177200 19 Jan 2020 Disease Liddle syndrome 1 NCBI curation CN031472 177200 19 Jan 2020 Disease LIDDLE SYNDROME 2 OMIM C4748251 618114 618114 14 Sep 2018 Disease LIDDLE SYNDROME 3 OMIM C4748292 618126 618126 19 Sep 2018 Disease Liebenberg syndrome NCBI curation C1861313 186550 16 Feb 2016 Disease lifelong axonal polyneuropathy 18 Aug 2017 Finding Lig4 syndrome NCBI curation C1847827 606593 16 Feb 2016 Disease LIG4-Related Disorders CN239380 02 Dec 2016 Disease Ligament disease MONDO C0263976 MONDO:0045044 17 Apr 2020 Disease Ligamentous laxity 16 Feb 2016 Finding Light and heavy chain deposition disease MONDO C5204117 MONDO:0019729 17 Apr 2020 Disease Light chain deposition disease NCBI curation C0238239 16 Feb 2016 Disease Light complexion C3554634 16 Feb 2016 Finding Light fixation seizure syndrome NCBI curation C1863767 603530 16 Feb 2016 Disease Light-chain paraproteinemia Human Phenotype Ontology C4476929 HP:0031048 04 Apr 2018 Finding Ligneous conjunctivitis MONDO C1274789 MONDO:0019946 22 Apr 2020 Disease LIM DOMAIN ONLY-1 POLYMORPHISM 16 Feb 2016 Disease limb anomalies 05 Sep 2019 Finding Limb apraxia Human Phenotype Ontology C4022574 HP:0030217 16 Feb 2016 Finding Limb ataxia Human Phenotype Ontology C0750937 HP:0002070 16 Feb 2016 Finding Limb defects, distal transverse, with mental retardation and spasticity NCBI curation C1855501 246555 16 Feb 2016 Disease Limb disorder MONDO C1290877 MONDO:0044967 17 Apr 2020 Disease Limb duplication Human Phenotype Ontology C0265551 HP:0100524 16 Feb 2016 Finding Limb dysmetria Human Phenotype Ontology C1854489 HP:0002406 16 Feb 2016 Finding Limb dystonia Human Phenotype Ontology C0751093 HP:0002451 16 Feb 2016 Disease Limb fasciculations Human Phenotype Ontology C1854657 HP:0007289 16 Feb 2016 Finding Limb hypertonia Human Phenotype Ontology C1838391 HP:0002509 16 Feb 2016 Finding Limb ischemia MONDO C2945695 MONDO:0000491 17 Apr 2020 Disease Limb joint contracture Human Phenotype Ontology C1969879 HP:0003121 16 Feb 2016 Finding Limb muscle weakness Human Phenotype Ontology C0587246 HP:0003690 16 Feb 2016 Finding Limb myoclonus Human Phenotype Ontology C4477055 HP:0045084 02 Apr 2017 Finding Limb pain Human Phenotype Ontology C0030196 HP:0009763 16 Feb 2016 Finding Limb reduction defect 16 Feb 2016 Disease Limb scalp and skull defects 16 Feb 2016 Disease Limb spasticity 07 Sep 2019 Finding Limb transversal defect cardiac anomaly 16 Feb 2016 Disease Limb tremor Human Phenotype Ontology C0235081 HP:0200085 16 Feb 2016 Finding Limb undergrowth Human Phenotype Ontology CN214331 HP:0009826 16 Feb 2016 Finding Limb-Body Wall complex 24 Nov 2017 Finding Limb-body wall complex 16 Feb 2016 Disease Limb-girdle muscle atrophy Human Phenotype Ontology C1842552 HP:0003797 16 Feb 2016 Finding Limb-girdle muscle weakness Human Phenotype Ontology C1858127 HP:0003325 16 Feb 2016 Finding Limb-girdle muscular dystrophy Orphanet C0686353 ORPHA263 16 Feb 2016 Disease Limb-girdle muscular dystrophy Human Phenotype Ontology C0686353 HP:0006785 16 Feb 2016 Disease Limb-girdle muscular dystrophy autosomal dominant NCBI curation CN043626 27 Apr 2020 Disease Limb-girdle muscular dystrophy with delta-sarcoglyan deficiency 16 Feb 2016 Disease Limb-girdle muscular dystrophy, autosomal recessive NCBI curation C2931907 16 Feb 2016 Disease Limb-Girdle Muscular Dystrophy, Dominant CN239426 02 Dec 2016 Disease Limb-Girdle Muscular Dystrophy, Recessive CN239352 02 Dec 2016 Disease Limb-girdle muscular dystrophy, type 1B C1834653 159001 16 Feb 2016 Disease Limb-girdle muscular dystrophy, type 1E NCBI curation C4721885 603511 16 Feb 2016 Disease Limb-girdle muscular dystrophy, type 1F NCBI curation C1842062 608423 16 Feb 2016 Disease Limb-girdle muscular dystrophy, type 1G NCBI curation C1836765 609115 16 Feb 2016 Disease Limb-girdle muscular dystrophy, type 1H NCBI curation C3150786 613530 16 Feb 2016 Disease Limb-girdle muscular dystrophy, type 2A NCBI curation C1869123 253600 06 Mar 2016 Disease Limb-girdle muscular dystrophy, type 2J NCBI curation C1837342 608807 16 Feb 2016 Disease Limb-girdle muscular dystrophy, type 2L NCBI curation C1969785 611307 16 Feb 2016 Disease Limb-girdle muscular dystrophy, type 2Q NCBI curation C3150989 613723 16 Feb 2016 Disease Limb-girdle muscular dystrophy, type 2S NCBI curation C3809236 615356 16 Feb 2016 Disease Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 NCBI curation C1836373 609308 16 Feb 2016 Disease Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 NCBI curation C3150418 613158 16 Feb 2016 Disease Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 NCBI curation C3150417 613157 16 Feb 2016 Disease Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 NCBI curation C1969040 611588 16 Feb 2016 Disease Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 NCBI curation C1846672 607155 16 Feb 2016 Disease Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 NCBI curation C3151184 613818 16 Feb 2016 Disease Limb-girdle myasthenia, autoimmune NCBI curation C1834635 159400 16 Feb 2016 Disease Limb-mammary syndrome NCBI curation C1863753 603543 03 May 2020 Disease Limbal edema Human Phenotype Ontology C4476719 HP:0025349 02 Apr 2017 Finding Limbic encephalitis C0338430 16 Feb 2016 Disease Limbic encephalitis associated with antibodies to cell membrane antigens MONDO CN228965 MONDO:0015591 17 Apr 2020 Disease Limbic encephalitis with caspr2 antibodies MONDO C4706582 MONDO:0017179 17 Apr 2020 Disease Limbic encephalitis with DPP6 antibodies MONDO C4750833 MONDO:0018003 17 Apr 2020 Disease Limbic encephalitis with LGI1 antibodies MONDO C4706583 MONDO:0015592 04 Jun 2020 Infectious disease Limbic encephalitis with nCMAgs antibodies MONDO MONDO:0015593 17 Apr 2020 Disease Limbic encephalitis with neurexin-3 antibodies MONDO CN258529 MONDO:0044683 17 Apr 2020 Disease Limbic encephalitis with NMDA receptor antibodies MONDO C4274344 MONDO:0016317 17 Apr 2020 Disease Limitation of joint mobility Human Phenotype Ontology C1857108 HP:0001376 16 Feb 2016 Finding Limitation of knee mobility Human Phenotype Ontology C4021259 HP:0010501 16 Feb 2016 Finding Limitation of movement at ankles Human Phenotype Ontology C4023800 HP:0010505 16 Feb 2016 Finding Limitation of neck motion Human Phenotype Ontology C1847392 HP:0005986 16 Feb 2016 Finding limited central vision 20 Jun 2019 Finding Limited cutaneous systemic sclerosis MONDO C0748540 MONDO:0016358 17 Apr 2020 Disease Limited elbow extension Human Phenotype Ontology C1867103 HP:0001377 16 Feb 2016 Finding Limited elbow extension and supination Human Phenotype Ontology C4025124 HP:0005852 16 Feb 2016 Finding Limited elbow flexion Human Phenotype Ontology C1856922 HP:0006376 16 Feb 2016 Finding Limited elbow flexion/extension Human Phenotype Ontology C1968605 HP:0005060 16 Feb 2016 Finding Limited elbow movement Human Phenotype Ontology C1849955 HP:0002996 16 Feb 2016 Finding Limited extraocular movements Human Phenotype Ontology C1858427 HP:0007941 16 Feb 2016 Finding Limited hip extension Human Phenotype Ontology C3553368 HP:0003093 16 Feb 2016 Finding Limited hip movement Human Phenotype Ontology C1851542 HP:0008800 16 Feb 2016 Finding Limited interphalangeal movement Human Phenotype Ontology C1840089 HP:0006064 16 Feb 2016 Finding Limited knee extension Human Phenotype Ontology C1844690 HP:0003066 16 Feb 2016 Finding Limited knee flexion Human Phenotype Ontology C1839512 HP:0006389 16 Feb 2016 Finding Limited knee flexion/extension Human Phenotype Ontology C1968606 HP:0005085 16 Feb 2016 Finding Limited mobility of proximal interphalangeal joint Human Phenotype Ontology C1857288 HP:0006217 16 Feb 2016 Finding Limited neck flexion Human Phenotype Ontology C1864449 HP:0005991 16 Feb 2016 Finding Limited neck range of motion Human Phenotype Ontology C1859212 HP:0000466 16 Feb 2016 Finding Limited pronation/supination of forearm Human Phenotype Ontology C1861331 HP:0006394 16 Feb 2016 Finding Limited shoulder movement Human Phenotype Ontology C1851313 HP:0006467 16 Feb 2016 Finding Limited systemic sclerosis MONDO C1290138 MONDO:0016359 07 Jun 2020 Disease Limited talent 02 Feb 2019 Finding limited thumb abduction 18 Aug 2017 Finding Limited wrist extension Human Phenotype Ontology C1862481 HP:0006251 16 Feb 2016 Finding Limited wrist movement Human Phenotype Ontology C1840088 HP:0006248 16 Feb 2016 Finding Lindsay Burn syndrome 16 Feb 2016 Disease Lindstrom syndrome 16 Feb 2016 Disease Linear arrays of macular hyperkeratoses in flexural areas Human Phenotype Ontology C1866031 HP:0007490 16 Feb 2016 Finding Linear atrophoderma of Moulin MONDO C1274753 MONDO:0015371 17 Apr 2020 Disease Linear C3 deposits along the epidermal basement membrane zone Human Phenotype Ontology C4531055 HP:0031541 04 Apr 2018 Finding Linear earlobe crease Human Phenotype Ontology C4531075 HP:0031510 04 Apr 2018 Finding Linear focal dermal elastosis MONDO C4751166 MONDO:0016438 17 Apr 2020 Disease Linear hamartoma syndrome 16 Feb 2016 Disease Linear hyperpigmentation Human Phenotype Ontology C3278658 HP:0007546 16 Feb 2016 Finding Linear IgA deposits along the epidermal basement membrane zone Human Phenotype Ontology C4531057 HP:0031539 04 Apr 2018 Finding Linear IgA Dermatosis MONDO C0406650 MONDO:0018748 17 Apr 2020 Disease Linear IgG deposits along the epidermal basement membrane zone Human Phenotype Ontology C4531056 HP:0031540 04 Apr 2018 Finding Linear lichen planus MONDO C0023650 MONDO:0016769 17 Apr 2020 Disease Linear nevus sebaceous Human Phenotype Ontology C4552097 HP:0010817 16 Feb 2016 Finding Linear porokeratosis C0302319 16 Feb 2016 Disease Linear scleroderma MONDO C0263409 MONDO:0043294 22 Apr 2020 Disease Linear skin defects with multiple congenital anomalies OMIM phenotypic series CN263260 PS309801 08 Feb 2020 Disease Linear skin defects with multiple congenital anomalies 1 NCBI curation C0796070 309801 24 Aug 2016 Disease Linear skin defects with multiple congenital anomalies 2 NCBI curation C3550921 300887 24 Aug 2016 Disease Linear skin defects with multiple congenital anomalies 3 NCBI curation C4225421 300952 16 Feb 2016 Disease Linear verrucous nevus syndrome MONDO CN202159 MONDO:0016831 17 Apr 2020 Disease Lingual dystonia Human Phenotype Ontology C2242579 HP:0031008 04 Apr 2018 Finding Lingual goiter MONDO C0271760 MONDO:0006833 17 Apr 2020 Disease Lingual thyroid Human Phenotype Ontology C0266284 HP:0100029 16 Feb 2016 Finding Lip and oral cavity cancer 16 Feb 2016 Disease Lip and oral cavity carcinoma NCBI curation C0220641 22 Jun 2016 Disease Lip cancer MONDO MONDO:0006834 17 Apr 2020 Disease Lip carcinoma in situ MONDO MONDO:0004636 17 Apr 2020 Disease Lip discoloration Human Phenotype Ontology C0854373 HP:0025118 02 Apr 2017 Finding Lip disease MONDO C0023760 MONDO:0004748 17 Apr 2020 Disease Lip fissure Human Phenotype Ontology C0240200 HP:0031250 04 Apr 2018 Finding Lip freckle Human Phenotype Ontology C0406814 HP:0010798 16 Feb 2016 Finding Lip hyperpigmentation Human Phenotype Ontology C4021963 HP:0100816 16 Feb 2016 Finding Lip lit syndrome 16 Feb 2016 Disease Lip neoplasm MONDO MONDO:0021249 17 Apr 2020 Disease Lip pit Human Phenotype Ontology C0341059 HP:0100267 16 Feb 2016 Finding Lip prints NCBI curation C1855497 247150 16 Feb 2016 Disease Lip telangiectasia Human Phenotype Ontology C1857697 HP:0000214 16 Feb 2016 Finding Lip, hamartomatous NCBI curation C1835395 151640 16 Feb 2016 Disease Lip, median nodule of upper NCBI curation C1835396 151630 16 Feb 2016 Disease LIPA-Related Disorders 23 May 2019 Disease LIPASE AND COLIPASE, CONGENITAL ABSENCE OF PANCREATIC 16 Feb 2016 Disease LIPASE AND COLIPASE, DEFICIENCY OF 16 Feb 2016 Disease Lipase deficiency, combined MONDO C1855498 MONDO:0009527 246650 22 Apr 2020 Disease Lipedema Human Phenotype Ontology C0398370 HP:0100695 614103 16 Feb 2016 Finding Lipemia retinalis Human Phenotype Ontology C0339477 HP:0000660 16 Feb 2016 Finding Lipid accumulation in hepatocytes Human Phenotype Ontology C1837257 HP:0006561 16 Feb 2016 Finding Lipid pneumonia MONDO C0032298 MONDO:0005826 22 Apr 2020 Disease Lipid proteinosis C0023795 247100 16 Feb 2016 Disease Lipid storage myopathy NCBI curation C0410214 03 Jul 2016 Disease Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency NCBI curation C4310822 255100 03 Jul 2016 Disease Lipid-cell variant infiltrating bladder urothelial carcinoma MONDO C1512738 MONDO:0004415 17 Apr 2020 Disease Lipid-rich breast carcinoma MONDO C1517894 MONDO:0021090 17 Apr 2020 Disease Lipid-rich carcinoma MONDO C0334318 MONDO:0003570 17 Apr 2020 Disease Lipidosis with triglycerid storage disease 16 Feb 2016 Disease Lipoadenoma MONDO C0334325 MONDO:0003431 17 Apr 2020 Disease Lipoamide dehydrogenase deficiency CN257888 16 Feb 2016 Disease Lipoamide dehydrogenase deficiency, lactic acidosis due to NCBI curation 16 Feb 2016 Disease Lipoatrophy Human Phenotype Ontology C1280433 HP:0100578 16 Feb 2016 Finding Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and leukomelanodermic papules 16 Feb 2016 Disease Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules CN239184 02 Dec 2016 Disease Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy MONDO CN228956 MONDO:0015493 17 Apr 2020 Disease Lipoblastoma MONDO C1260965 MONDO:0016611 17 Apr 2020 Disease Lipochrome histiocytosis - familial NCBI curation C0334125 235900 16 Feb 2016 Disease Lipodermatosclerosis C0406500 16 Feb 2016 Disease Lipodystrophy (disease) MONDO C0023787 MONDO:0006573 17 Apr 2020 Disease Lipodystrophy, congenital generalized, type 3 NCBI curation C2675861 612526 16 Feb 2016 Disease Lipodystrophy, congenital generalized, type 4 NCBI curation C2750069 613327 16 Feb 2016 Disease Lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones NCBI curation C1842465 608154 16 Feb 2016 Disease Lipodystrophy, partial, acquired, susceptibility to NCBI curation C3887501 26 Dec 2017 Finding Lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis NCBI curation C3151347 613913 16 Feb 2016 Disease Lipogranulomatosis Human Phenotype Ontology C1704214 HP:0040139 16 Feb 2016 Disease Lipoid adrenal hyperplasia CN860316 13 Mar 2018 Disease Lipoma Human Phenotype Ontology C0023798 HP:0012032 16 Feb 2016 Finding Lipoma associated with neurospinal dysraphism MONDO CN229070 MONDO:0017083 17 Apr 2020 Disease Lipoma of colon MONDO C0940607 MONDO:0001091 17 Apr 2020 Disease Lipoma of corpus callosum Human Phenotype Ontology C1333160 HP:0006931 16 Feb 2016 Finding Lipoma of face MONDO MONDO:0021630 17 Apr 2020 Disease Lipoma of spermatic cord MONDO C0153972 MONDO:0000975 17 Apr 2020 Disease Lipoma of stomach MONDO C1333777 MONDO:0021437 17 Apr 2020 Disease Lipoma of the conjunctiva NCBI curation C1835373 151700 16 Feb 2016 Disease Lipoma of the rectum MONDO C1335684 MONDO:0003884 17 Apr 2020 Disease Lipoma of the tongue Human Phenotype Ontology C0238467 HP:0030815 02 Apr 2017 Finding Lipoma, somatic NCBI curation C4017330 16 Feb 2016 Disease Lipomas of the central neryous system Human Phenotype Ontology C4022180 HP:0100251 16 Feb 2016 Finding Lipomas of upper eyelids Human Phenotype Ontology C0347418 HP:0040164 16 Feb 2016 Finding Lipomatosis central non-encapsulated 16 Feb 2016 Disease Lipomatosis dolorosa C0001529 103200 16 Feb 2016 Disease Lipomatosis familial benign cervical C0023804 151800 16 Feb 2016 Disease Lipomatosis, multiple NCBI curation C3489413 151900 16 Feb 2016 Disease Lipomatous cancer MONDO C0346117 MONDO:0002813 17 Apr 2020 Disease Lipomatous tumor Human Phenotype Ontology C0206631 HP:0012031 16 Feb 2016 Finding Lipomeningocele Human Phenotype Ontology C0431344 HP:0030710 02 Apr 2017 Finding Lipomyelomeningocele Human Phenotype Ontology C1836022 HP:0025480 609537 24 Aug 2016 Disease Lipoprotein glomerulopathy NCBI curation C2673196 611771 16 Feb 2016 Disease LIPOPROTEIN LIPASE (OLBIA) 16 Feb 2016 Disease LIPOPROTEIN LIPASE POLYMORPHISM 16 Feb 2016 Disease Lipoprotein types--ld system NCBI curation C1835371 152100 16 Feb 2016 Disease Lipoprotein types--lt system NCBI curation C1835359 152300 16 Feb 2016 Disease Lipoprotein(a) deficiency, congenital NCBI curation C1835362 24 Aug 2016 Disease LIPOPROTEIN(a) QUANTITATIVE TRAIT LOCUS OMIM CN263361 618807 618807 13 Mar 2020 Disease LIPOPROTEIN(a), ELEVATION OF CN263362 13 Mar 2020 Disease Lipoprotein, variant of beta NCBI curation C1835357 152400 16 Feb 2016 Disease Liposarcoma Human Phenotype Ontology C0023827 HP:0012034 16 Feb 2016 Disease Liposarcoma of bone MONDO C1332581 MONDO:0002634 17 Apr 2020 Disease Liposarcoma of the ovary MONDO C1335165 MONDO:0003589 17 Apr 2020 Disease Lipoyl transferase 2 deficiency MONDO CN237709 MONDO:0018651 17 Apr 2020 Disease Lipoyltransferase 1 deficiency NCBI curation C4225379 616299 16 Feb 2016 Disease Lisch nodules Human Phenotype Ontology C1860334 HP:0009737 16 Feb 2016 Finding Lissencephaly Human Phenotype Ontology C0266463 HP:0001339 16 Feb 2016 Disease Lissencephaly OMIM phenotypic series C0266463 PS607432 16 Feb 2016 Disease LISSENCEPHALY 10 OMIM CN280891 618873 618873 10 May 2020 Disease Lissencephaly 2, X-linked NCBI curation C1846171 300215 16 Feb 2016 Disease Lissencephaly 3 NCBI curation C1969029 611603 16 Feb 2016 Disease Lissencephaly 4 NCBI curation C3151461 614019 16 Feb 2016 Disease Lissencephaly 4 (with microcephaly) CN260099 20 Jun 2019 Disease Lissencephaly 5 NCBI curation C3554657 615191 26 May 2016 Disease Lissencephaly 6, with microcephaly NCBI curation C4015525 616212 16 Feb 2016 Disease Lissencephaly 7 with cerebellar hypoplasia NCBI curation C4225359 616342 16 Feb 2016 Disease Lissencephaly 8 NCBI curation C4310646 617255 20 Jun 2017 Disease LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION OMIM C5193029 618325 618325 20 Feb 2019 Disease Lissencephaly due to LIS1 mutation MONDO C0431375 MONDO:0011830 607432 26 May 2020 Disease Lissencephaly immunodeficiency 16 Feb 2016 Disease Lissencephaly syndrome type 1 16 Feb 2016 Disease Lissencephaly type 3-familial fetal akinesia sequence syndrome MONDO C4305255 MONDO:0019449 17 Apr 2020 Disease Lissencephaly type III and bone dysplasia NCBI curation C1832678 601160 26 May 2016 Disease Lissencephaly with cerebellar hypoplasia MONDO C4274995 MONDO:0019450 17 Apr 2020 Disease Lissencephaly with cerebellar hypoplasia type A MONDO C5191423 MONDO:0015034 17 Apr 2020 Disease Lissencephaly with cerebellar hypoplasia type B MONDO C4274993 MONDO:0015035 17 Apr 2020 Disease Lissencephaly with cerebellar hypoplasia type C MONDO C4274992 MONDO:0015036 17 Apr 2020 Disease Lissencephaly with cerebellar hypoplasia type D MONDO C4274991 MONDO:0015037 17 Apr 2020 Disease Lissencephaly with cerebellar hypoplasia type E MONDO C5191422 MONDO:0015038 17 Apr 2020 Disease Lissencephaly with cerebellar hypoplasia type F MONDO C4274989 MONDO:0015039 17 Apr 2020 Disease Lissencephaly with decussation defect 18 Oct 2018 Disease Lissencephaly, Dominant CN239306 02 Dec 2016 Disease Lissencephaly, familial, with cleft palate and cerebellar hypoplasia NCBI curation C1858419 604382 16 Feb 2016 Disease Lissencephaly, isolated 16 Feb 2016 Disease Lissencephaly, Recessive CN239458 02 Dec 2016 Disease Lissencephaly, X-linked NCBI curation C4551968 300067 16 Feb 2016 Disease Lissencephaly/Subcortical Band Heterotopia CN239259 02 Dec 2016 Disease Listeria meningitis MONDO C0025293 MONDO:0006836 04 Jun 2020 Infectious disease Listeriosis NCBI curation C0023860 16 Feb 2016 Infectious disease Lithium transport NCBI curation C1835356 152420 16 Feb 2016 Disease Littoral cell angioma C1627365 16 Feb 2016 Disease Littre gland carcinoma MONDO C1516285 MONDO:0003975 17 Apr 2020 Disease Livedoid vasculopathy MONDO C0343081 MONDO:0025514 17 Apr 2020 Disease Liver abscess Human Phenotype Ontology C0023885 HP:0100523 16 Feb 2016 Finding Liver adenosquamous carcinoma MONDO C3898586 MONDO:0056815 17 Apr 2020 Disease Liver and intrahepatic bile duct neoplasm MONDO C1333976 MONDO:0024477 17 Apr 2020 Disease Liver angiosarcoma MONDO C0345907 MONDO:0002387 17 Apr 2020 Disease Liver carcinoma in situ MONDO C0345908 MONDO:0004715 17 Apr 2020 Disease Liver cavernous hemangioma MONDO C3282904 MONDO:0006267 17 Apr 2020 Disease Liver diffuse large B-cell lymphoma MONDO C2184126 MONDO:0006268 17 Apr 2020 Disease Liver disease, alcoholic 1 NCBI curation 16 Feb 2016 Disease Liver extraskeletal osteosarcoma MONDO C1333974 MONDO:0003866 17 Apr 2020 Disease Liver fibrocystic disease and polydactyly NCBI curation C1853827 605944 16 Feb 2016 Disease Liver fibrosarcoma MONDO C1333966 MONDO:0004435 17 Apr 2020 Disease Liver fibrosis, susceptibility to NCBI curation CN071395 16 Feb 2016 Disease Liver glycogenosis, X-linked, type ii C1844412 26 May 2016 Disease Liver hyperechogenicity 01 Nov 2018 Finding Liver kidney microsome type 1 antibody positivity Human Phenotype Ontology C4293677 HP:0030908 02 Apr 2017 Finding Liver leiomyoma MONDO C1333968 MONDO:0004723 17 Apr 2020 Disease Liver leiomyosarcoma MONDO C1333969 MONDO:0003378 17 Apr 2020 Disease Liver lipoma MONDO C1333970 MONDO:0000965 17 Apr 2020 Disease Liver lymphoma MONDO C1112746 MONDO:0004695 17 Apr 2020 Disease Liver mass C0240225 18 Jan 2019 Finding Liver neuroendocrine carcinoma MONDO C3273031 MONDO:0015072 17 Apr 2020 Disease Liver rhabdomyosarcoma MONDO C1333975 MONDO:0002849 17 Apr 2020 Disease Liver sarcoma MONDO C0345906 MONDO:0002397 17 Apr 2020 Disease Liver solitary fibrous tumor MONDO C1333965 MONDO:0004705 17 Apr 2020 Disease liver transplantation PharmGKB CN236686 06 Jul 2018 Disease Liver X Receptor beta Agonist RGX-104 C4330586 01 Nov 2018 Pharmacological response LMNA-associated condition 18 Sep 2019 Finding LMNA-related cardiocutaneous progeria syndrome MONDO C4750858 MONDO:0018203 17 Apr 2020 Disease LMNA-Related Disorders 23 May 2019 Disease Lobar holoprosencephaly Human Phenotype Ontology C0431362 HP:0006870 16 Feb 2016 Finding Lobodontia NCBI curation C1861275 16 Feb 2016 Disease Lobomycosis MONDO C0152066 MONDO:0001616 04 Jun 2020 Infectious disease lobular breast cancer CN235591 19 Mar 2016 Finding Lobular breast carcinoma in situ MONDO MONDO:0006270 17 Apr 2020 Disease Lobular capillary hemangioma 12 Jul 2018 Disease Lobular capillary hemangiomas 12 Jul 2018 Disease Lobular carcinoma in situ Human Phenotype Ontology C0279563 HP:0030076 16 Feb 2016 Finding Lobular glomerulopathy Human Phenotype Ontology C4024651 HP:0008636 16 Feb 2016 Finding Lobular neoplasia MONDO C0861352 MONDO:0002486 17 Apr 2020 Disease Lobulated tongue Human Phenotype Ontology C0431564 HP:0000180 16 Feb 2016 Finding Localization-related (focal or partial) symptomatic epilepsy 05 Sep 2019 Finding localization-related focal partial idiopathic epilepsy 05 Sep 2019 Finding Localized MONDO C0392752 MONDO:0045042 17 Apr 2020 Disease Localized anterior staphyloma MONDO C0155362 MONDO:0001799 17 Apr 2020 Disease Localized AR Hypotrichosis CN239201 02 Dec 2016 Disease Localized area of pendulous skin Human Phenotype Ontology C4476642 HP:0025182 02 Apr 2017 Finding Localized Castleman disease MONDO C3898582 MONDO:0019753 17 Apr 2020 Disease Localized chondrosarcoma MONDO C0855011 MONDO:0003682 17 Apr 2020 Disease Localized epidermolysis bullosa simplex MONDO C0080333 MONDO:0007551 131800 22 Apr 2020 Disease Localized epiphyseal dysplasia 16 Feb 2016 Disease Localized hirsutism Human Phenotype Ontology C4024170 HP:0009889 16 Feb 2016 Finding Localized hypoplasia of dental enamel Human Phenotype Ontology C4023550 HP:0011074 16 Feb 2016 Finding Localized junctional epidermolysis bullosa, non-Herlitz type MONDO CN201914 MONDO:0016673 17 Apr 2020 Disease Localized lichen myxedematosus with mixed features of different subtypes MONDO MONDO:0019583 17 Apr 2020 Disease Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms MONDO MONDO:0019584 17 Apr 2020 Disease Localized lipodystrophy MONDO C4329999 MONDO:0019194 07 Jun 2020 Disease Localized neuroblastoma Human Phenotype Ontology C4024981 HP:0006768 16 Feb 2016 Finding Localized osteoporosis Human Phenotype Ontology C1398367 HP:0040161 16 Feb 2016 Finding Localized osteosarcoma MONDO C0278511 MONDO:0002620 17 Apr 2020 Disease Localized pagetoid reticulosis MONDO C1276140 MONDO:0015809 17 Apr 2020 Disease Localized periodontitis Human Phenotype Ontology C4023559 HP:0011059 16 Feb 2016 Finding Localized pulmonary fibrosis MONDO C0340127 MONDO:0003564 17 Apr 2020 Disease Localized scleroderma C0036420 16 Feb 2016 Disease Localized skin lesion Human Phenotype Ontology C0850826 HP:0011355 16 Feb 2016 Finding Locational disease characteristic MONDO MONDO:0045040 17 Apr 2020 Disease Locked-in syndrome C0023944 16 Feb 2016 Disease Lockwood Feingold syndrome 16 Feb 2016 Disease Loeffler endocarditis MONDO C0206143 MONDO:0019159 17 Apr 2020 Disease Loeys-Dietz syndrome OMIM phenotypic series C2697932 PS609192 16 Feb 2016 Disease Loeys-Dietz syndrome 1 NCBI curation C4551955 609192 16 Feb 2016 Disease Loeys-Dietz syndrome 2 NCBI curation C2674574 610168 16 Feb 2016 Disease Loeys-Dietz syndrome 3 NCBI curation C3151087 613795 16 Feb 2016 Disease Loeys-Dietz syndrome 4 NCBI curation C3553762 614816 16 Feb 2016 Disease Loeys-Dietz syndrome 5 NCBI curation C3810012 615582 24 Aug 2016 Disease Lofexidine Response CN282561 17 Jun 2020 Pharmacological response Loffredo Cennamo Cecio syndrome 16 Feb 2016 Disease Loiasis C0023968 16 Feb 2016 Infectious disease Loin pain hematuria syndrome 16 Feb 2016 Disease long and broad nasal bridge 22 Aug 2019 Finding long and smooth philtrum 22 Aug 2019 Finding Long chain acyl-CoA dehydrogenase deficiency C0220711 16 Feb 2016 Disease Long chain fatty acids, defect in transport of NCBI curation C1863958 603376 16 Feb 2016 Disease Long clavicles Human Phenotype Ontology C0426808 HP:0000890 16 Feb 2016 Finding Long coccyx Human Phenotype Ontology C3277116 HP:0002831 16 Feb 2016 Finding Long curly eyelashes 23 Feb 2018 Finding Long digits 30 Mar 2018 Finding Long distal phalanx of finger Human Phenotype Ontology C4021865 HP:0012299 16 Feb 2016 Finding long downslanting palpebral fissures CN234772 16 Feb 2016 Finding Long ear Human Phenotype Ontology C1848657 HP:0400004 16 Feb 2016 Finding Long eyebrows Human Phenotype Ontology C3280131 HP:0004523 16 Feb 2016 Finding Long eyelashes Human Phenotype Ontology C1853738 HP:0000527 16 Feb 2016 Finding Long eyelashes in irregular rows Human Phenotype Ontology C1850640 HP:0007740 16 Feb 2016 Finding Long face Human Phenotype Ontology C1836047 HP:0000276 16 Feb 2016 Finding Long fibula Human Phenotype Ontology C1848109 HP:0003085 16 Feb 2016 Finding Long fingers Human Phenotype Ontology C1858091 HP:0100807 16 Feb 2016 Finding long fingers and toes 22 Aug 2019 Finding Long foot Human Phenotype Ontology C0576225 HP:0001833 16 Feb 2016 Finding Long full chin 23 Jan 2020 Finding Long hairs growing from helix of pinna Human Phenotype Ontology C4024657 HP:0008528 16 Feb 2016 Finding Long hallux Human Phenotype Ontology C1864375 HP:0001847 16 Feb 2016 Finding Long lower eyelashes Human Phenotype Ontology C4022465 HP:0040053 16 Feb 2016 Finding Long metacarpals Human Phenotype Ontology C4021260 HP:0010493 16 Feb 2016 Finding Long middle phalanx of finger Human Phenotype Ontology C4022960 HP:0012298 16 Feb 2016 Finding Long neck Human Phenotype Ontology C1839816 HP:0000472 16 Feb 2016 Finding Long nose Human Phenotype Ontology C1839798 HP:0003189 16 Feb 2016 Finding Long palm Human Phenotype Ontology C4023422 HP:0011302 16 Feb 2016 Finding Long palpebral fissure Human Phenotype Ontology C1849340 HP:0000637 16 Feb 2016 Finding Long penis Human Phenotype Ontology C0269011 HP:0000040 16 Feb 2016 Finding Long phalanx of finger Human Phenotype Ontology C4025087 HP:0006155 16 Feb 2016 Finding long philthrum 24 Nov 2017 Finding Long philtrum Human Phenotype Ontology C1865014 HP:0000343 16 Feb 2016 Finding Long proximal phalanx of finger Human Phenotype Ontology C4025090 HP:0006127 16 Feb 2016 Finding Long QT interval, drug induced, association with CN231068 16 Feb 2016 Disease Long QT syndrome OMIM phenotypic series C0023976 PS192500 16 Feb 2016 Disease Long QT syndrome 1 NCBI curation C4551647 192500 16 Feb 2016 Disease Long QT syndrome 1, recessive NCBI curation C4017089 16 Feb 2016 Disease Long QT syndrome 1/2, digenic NCBI curation C3277700 16 Feb 2016 Disease Long QT syndrome 10 C2678484 611819 16 Feb 2016 Disease Long QT syndrome 11 C2678483 611820 16 Feb 2016 Disease Long QT syndrome 12 NCBI curation C2751830 612955 16 Feb 2016 Disease Long QT syndrome 13 NCBI curation C3150733 613485 16 Feb 2016 Disease Long QT syndrome 14 NCBI curation C4015671 616247 16 Feb 2016 Disease Long QT syndrome 15 NCBI curation C4015695 616249 16 Feb 2016 Disease LONG QT SYNDROME 16 OMIM CN263287 618782 618782 21 Feb 2020 Disease Long QT syndrome 2 C3150943 613688 16 Feb 2016 Disease Long QT syndrome 2, acquired, susceptibility to NCBI curation C3888153 16 Feb 2016 Disease Long QT syndrome 2/3, digenic NCBI curation C3276240 27 Jun 2016 Disease Long QT syndrome 2/5 NCBI curation C3279092 16 Feb 2016 Disease Long QT syndrome 2/9, digenic NCBI curation C3279093 16 Feb 2016 Disease Long QT syndrome 3 NCBI curation C1859062 603830 31 Oct 2016 Disease Long qt syndrome 3, acquired, susceptibility to NCBI curation C1838527 11 Nov 2018 Disease Long QT syndrome 3/6 NCBI curation 16 Feb 2016 Disease Long qt syndrome 3/6, digenic NCBI curation C3276241 11 Nov 2018 Disease Long QT syndrome 4 C1833154 16 Feb 2016 Disease Long QT syndrome 5 C1867904 613695 16 Feb 2016 Disease Long QT syndrome 5, acquired, susceptibility to NCBI curation C3150956 16 Feb 2016 Disease Long QT syndrome 6 C3150953 613693 16 Feb 2016 Disease Long QT syndrome 6, acquired, susceptibility to NCBI curation C3150954 16 Feb 2016 Disease Long QT syndrome 8 NCBI curation CN260585 618447 10 Jul 2019 Disease Long QT syndrome 9 C2678485 611818 16 Feb 2016 Disease Long QT syndrome 9, acquired, susceptibility to NCBI curation 16 Feb 2016 Disease Long QT syndrome, acquired, reduced susceptibility to CN260097 20 Jun 2019 Disease Long QT syndrome, bradycardia-induced NCBI curation C4016248 16 Feb 2016 Disease Long QT syndrome, drug-associated CN221566 16 Feb 2016 Disease Long QT syndrome, drugNot providedassociated NCBI curation 16 Feb 2016 Disease Long QT syndrome, LQT1 subtype CN177655 16 Feb 2016 Disease Long second metacarpal Human Phenotype Ontology C1861531 HP:0006040 16 Feb 2016 Finding Long segment coarctation of the aorta Human Phenotype Ontology C4476935 HP:0031054 04 Apr 2018 Finding Long smooth philtrum 23 Feb 2018 Finding Long styloid process of ulna Human Phenotype Ontology C4025426 HP:0004036 16 Feb 2016 Finding long term drug therapy 05 Sep 2019 Finding Long thin condyles CN236318 13 Apr 2016 Finding long third fingers and right thumb 18 Aug 2017 Finding Long thorax Human Phenotype Ontology C0575484 HP:0100818 16 Feb 2016 Finding Long toe Human Phenotype Ontology C3150613 HP:0010511 16 Feb 2016 Finding Long ulna Human Phenotype Ontology C1848108 HP:0003988 16 Feb 2016 Finding Long umbilical cord Human Phenotype Ontology C0405028 HP:0011417 16 Feb 2016 Finding Long upper eyelashes Human Phenotype Ontology C4024785 HP:0007840 16 Feb 2016 Finding Long upper lip Human Phenotype Ontology C3151495 HP:0011341 16 Feb 2016 Finding Long uvula Human Phenotype Ontology C4023697 HP:0010810 16 Feb 2016 Finding Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency NCBI curation C3711645 609016 16 Feb 2016 Disease Long-chain dicarboxylic aciduria Human Phenotype Ontology C1837273 HP:0008293 16 Feb 2016 Finding Long-segment aganglionic megacolon Human Phenotype Ontology C4023430 HP:0011285 16 Feb 2016 Finding Long-tract signs Human Phenotype Ontology C1865903 HP:0002423 16 Feb 2016 Finding Longevity 1 NCBI curation C2750617 152430 16 Feb 2016 Disease Longevity 2 NCBI curation C2751375 606460 16 Feb 2016 Disease longiline appearance 22 Oct 2019 Finding Longitudinal vaginal septum Human Phenotype Ontology C1841680 HP:0008740 16 Feb 2016 Finding LONP1-related condition 19 Jul 2019 Finding Loose anagen hair Human Phenotype Ontology C3554793 HP:0040169 16 Feb 2016 Finding Loose anagen hair syndrome C0406468 600628 16 Feb 2016 Disease Lop ear Human Phenotype Ontology C0266614 HP:0000394 16 Feb 2016 Finding Lopes Marques de Faria syndrome 16 Feb 2016 Disease Lopes-Maciel-Rodan syndrome NCBI curation C4479491 617435 26 Nov 2017 Disease Lopez Hernandez syndrome 16 Feb 2016 Disease lorazepam response - Other PharmGKB CN240605 655387798 17 Feb 2017 Pharmacological response Loss of ability to walk Human Phenotype Ontology C1849097 HP:0006957 16 Feb 2016 Finding Loss of ability to walk in early childhood Human Phenotype Ontology C1835993 HP:0008945 16 Feb 2016 Finding Loss of ability to walk in first decade Human Phenotype Ontology C1846133 HP:0006794 16 Feb 2016 Finding Loss of consciousness Human Phenotype Ontology C0041657 HP:0007185 16 Feb 2016 Finding Loss of eyelashes Human Phenotype Ontology C4316878 HP:0011457 16 Feb 2016 Finding Loss of facial adipose tissue Human Phenotype Ontology C1837767 HP:0000292 16 Feb 2016 Finding Loss of facial expression Human Phenotype Ontology C1852476 HP:0005327 16 Feb 2016 Finding Loss of gluteal subcutaneous adipose tissue Human Phenotype Ontology C4024606 HP:0009017 16 Feb 2016 Finding Loss of Purkinje cells in the cerebellar vermis Human Phenotype Ontology C1849146 HP:0007001 16 Feb 2016 Finding Loss of speech Human Phenotype Ontology C0542223 HP:0002371 16 Feb 2016 Finding Loss of subcutaneous adipose tissue from upper limbs Human Phenotype Ontology C4024602 HP:0009056 16 Feb 2016 Finding Loss of subcutaneous adipose tissue in limbs Human Phenotype Ontology C1837764 HP:0003635 16 Feb 2016 Finding Loss of truncal subcutaneous adipose tissue Human Phenotype Ontology C1835384 HP:0009002 16 Feb 2016 Finding Loss of voice Human Phenotype Ontology C0003564 HP:0001686 16 Feb 2016 Finding Loss of weight 11 Sep 2019 Finding Loud snoring Human Phenotype Ontology C2219850 HP:0025372 04 Apr 2018 Finding Louping ill MONDO C0024025 MONDO:0005829 04 Jun 2020 Infectious disease Louse-borne relapsing fever MONDO C0152061 MONDO:0001620 04 Jun 2020 Infectious disease lovastatin response - Efficacy PharmGKB 1183492035PA450272 06 Jul 2018 Pharmacological response Low 1-minute APGAR score Human Phenotype Ontology C4476848 HP:0030918 02 Apr 2017 Finding Low 5-minute APGAR score Human Phenotype Ontology C4476849 HP:0030919 02 Apr 2017 Finding Low alkaline phosphatase Human Phenotype Ontology C1860130 HP:0003282 16 Feb 2016 Finding Low alkaline phosphatase of bone origin Human Phenotype Ontology C4023741 HP:0010684 16 Feb 2016 Finding Low alkaline phosphatase of hepatic origin Human Phenotype Ontology C4023739 HP:0010686 16 Feb 2016 Finding Low alkaline phosphatase of renal origin Human Phenotype Ontology C4023740 HP:0010685 16 Feb 2016 Finding Low anorectal malformation MONDO C0345218 MONDO:0015733 17 Apr 2020 Disease Low anterior hairline Human Phenotype Ontology C1842366 HP:0000294 16 Feb 2016 Finding Low APGAR score Human Phenotype Ontology C0549400 HP:0030917 02 Apr 2017 Finding Low appetite 21 Mar 2019 Finding Low back pain Human Phenotype Ontology C0024031 HP:0003419 16 Feb 2016 Finding Low blood neutrophil counts (ANC < 1.5 x 109/L) and recurrent bacterial infections usually beginning very early in childhood CN186324 16 Feb 2016 Finding Low bone mineral density 27 Sep 2018 Disease Low cholesterol esterification rates Human Phenotype Ontology C1843371 HP:0003349 16 Feb 2016 Finding Low compliance bladder MONDO C0489967 MONDO:0001446 17 Apr 2020 Disease Low CSF 5-methyltetrahydrofolate Human Phenotype Ontology C4022901 HP:0012446 16 Feb 2016 Finding Low density lipoprotein cholesterol level quantitative trait locus 1 NCBI curation C3276239 16 Feb 2016 Disease Low density lipoprotein cholesterol level quantitative trait locus 2 NCBI curation 16 Feb 2016 Disease Low density lipoprotein cholesterol level quantitative trait locus 3 NCBI curation C3888197 16 Feb 2016 Disease Low density lipoprotein cholesterol level quantitative trait locus 4 NCBI curation 16 Feb 2016 Disease Low density lipoprotein cholesterol level quantitative trait locus 5 NCBI curation 16 Feb 2016 Disease Low density lipoprotein cholesterol level quantitative trait locus 6 NCBI curation C3150834 613589 16 Feb 2016 Disease LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7 OMIM C4693795 617966 617966 11 May 2018 Disease LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8 OMIM C4748092 618079 618079 10 Aug 2018 Disease Low density lipoprotein cholesterol, mild elevation of NCBI curation C1857956 605028 16 Feb 2016 Disease Low density lipoprotein, variation in molecular weight of NCBI curation C1835321 152450 16 Feb 2016 Disease Low density serum cholesterol level NCBI curation CN185700 16 Feb 2016 Finding Low femoral bone density Human Phenotype Ontology C4477014 HP:0031163 04 Apr 2018 Finding Low frustration tolerance Human Phenotype Ontology C0548883 HP:0000744 16 Feb 2016 Finding Low gamma-glutamyl-transferase cholestasis 22 Nov 2017 Finding Low Gamma-GT Familial Intrahepatic Cholestasis NCBI curation CN043628 16 Feb 2016 Disease Low grade astrocytic tumor MONDO C3898569 MONDO:0021638 17 Apr 2020 Disease Low grade central osteosarcoma MONDO C3814534 MONDO:0006271 17 Apr 2020 Disease Low grade ependymoma MONDO MONDO:0016697 17 Apr 2020 Disease Low Grade Fibromyxoid Sarcoma C1275282 15 Mar 2019 Disease Low grade fibromyxoid sarcoma with giant collagen rosettes MONDO C1708749 MONDO:0006273 17 Apr 2020 Disease Low Grade Glioma C1997217 15 Mar 2019 Disease Low grade vulvar intraepithelial neoplasia MONDO C0495106 MONDO:0006274 17 Apr 2020 Disease Low hairline posteriorly CN235527 15 Mar 2016 Finding Low hanging columella Human Phenotype Ontology C1856119 HP:0009765 16 Feb 2016 Finding Low immunoglobulin D level in plasma NCBI curation C1855761 242890 16 Feb 2016 Disease Low implantation of placenta MONDO MONDO:0002077 17 Apr 2020 Disease Low insertion of columella Human Phenotype Ontology C4021229 HP:0010763 16 Feb 2016 Finding Low insulin growth factor 1 15 Mar 2018 Finding Low intestinal alkaline phosphatase Human Phenotype Ontology C4023738 HP:0010687 16 Feb 2016 Finding Low IQ CN235223 19 Feb 2016 Finding Low maternal serum alpha-fetoprotein Human Phenotype Ontology C4023787 HP:0010570 16 Feb 2016 Finding Low maternal serum chorionic gonadotropin Human Phenotype Ontology C4021149 HP:0011434 16 Feb 2016 Finding Low maternal serum estriol Human Phenotype Ontology C4024734 HP:0008073 16 Feb 2016 Finding Low maternal serum PAPP-A Human Phenotype Ontology C4023360 HP:0011435 16 Feb 2016 Finding Low placental alkaline phosphatase Human Phenotype Ontology C4023737 HP:0010688 16 Feb 2016 Finding Low plasma citrulline Human Phenotype Ontology C1839532 HP:0003572 16 Feb 2016 Finding Low posterior hairline Human Phenotype Ontology C1855728 HP:0002162 16 Feb 2016 Finding Low pulse pressure Human Phenotype Ontology C4280743 HP:0030851 02 Apr 2017 Finding Low renin C0855389 16 Feb 2016 Finding Low renin, low aldosterone hypertension 20 Sep 2018 Disease low rotated and dysplastic ears 22 Aug 2019 Finding Low self esteem Human Phenotype Ontology C0679136 HP:0031469 04 Apr 2018 Finding Low serum calcifediol Human Phenotype Ontology C4023064 HP:0012053 02 Apr 2017 Finding Low serum calcitriol Human Phenotype Ontology C4023065 HP:0012052 02 Apr 2017 Finding low serum IgG, IgA, and IgM since age 3 CN280278 29 Jun 2017 Finding Low serum IgM CN235538 16 Mar 2016 Finding low set and rotated ears 22 Aug 2019 Finding low set large ears 05 Sep 2019 Finding Low tension glaucoma MONDO C0152136 MONDO:0006837 17 Apr 2020 Disease Low tissue non-specific alkaline phosphatase Human Phenotype Ontology C4023742 HP:0010683 16 Feb 2016 Finding Low urinary cyclic AMP response to PTH administration Human Phenotype Ontology C1864105 HP:0003456 16 Feb 2016 Finding Low voltage EEG Human Phenotype Ontology C1851759 HP:0011181 130180 04 Apr 2018 Disease low weight to height ratio CN239581 23 Dec 2016 Finding Low-frequency hearing loss Human Phenotype Ontology C0271514 HP:0008542 16 Feb 2016 Finding Low-frequency sensorineural hearing impairment Human Phenotype Ontology C3810445 HP:0008573 16 Feb 2016 Finding Low-grade astrocytoma MONDO C1314694 MONDO:0016685 17 Apr 2020 Disease Low-grade fever Human Phenotype Ontology C0239574 HP:0011134 16 Feb 2016 Finding Low-grade neuroendocrine tumor of the corpus uteri MONDO C5190779 MONDO:0016270 17 Apr 2020 Disease Low-molecular-weight proteinuria Human Phenotype Ontology C1839606 HP:0003126 16 Feb 2016 Finding Low-normal intellect 23 Jan 2020 Finding Low-output congestive heart failure Human Phenotype Ontology C4024201 HP:0009805 16 Feb 2016 Finding Low-set ears Human Phenotype Ontology C0239234 HP:0000369 16 Feb 2016 Finding Low-set ears, Triangular shaped head, Anterior anus, Large fontanel 22 Jun 2020 Finding Low-set nipples Human Phenotype Ontology C1836933 HP:0002562 16 Feb 2016 Finding Low-set, posteriorly rotated ears Human Phenotype Ontology C1857486 HP:0000368 16 Feb 2016 Finding Low-to-normal blood pressure Human Phenotype Ontology C1866500 HP:0002632 16 Feb 2016 Finding Lowe syndrome C0028860 309000 16 Feb 2016 Disease Lowe-Kohn-Cohen syndrome MONDO C2931080 MONDO:0016568 07 Jun 2020 Disease Lower clivus meningioma MONDO C1334434 MONDO:0004511 17 Apr 2020 Disease Lower esophageal ring C0341137 133240 16 Feb 2016 Disease lower extremity contractures 20 Jun 2019 Finding Lower extremity joint dislocation Human Phenotype Ontology C4022516 HP:0030311 16 Feb 2016 Finding Lower extremity peripheral arterial calcification Human Phenotype Ontology C4531216 HP:0031302 04 Apr 2018 Finding Lower extremity subcutanous fat hypertrophy Human Phenotype Ontology C4531108 HP:0031451 04 Apr 2018 Finding Lower eyelid coloboma Human Phenotype Ontology C1837826 HP:0000652 16 Feb 2016 Finding Lower eyelid edema Human Phenotype Ontology C3839997 HP:0012568 16 Feb 2016 Finding Lower eyelid retraction Human Phenotype Ontology C1861656 HP:0030802 02 Apr 2017 Finding Lower gum cancer MONDO C0432581 MONDO:0004713 17 Apr 2020 Disease Lower limb amyotrophy Human Phenotype Ontology C4024921 HP:0007210 16 Feb 2016 Finding Lower limb anomaly ureteral obstruction 16 Feb 2016 Disease Lower limb asymmetry Human Phenotype Ontology C0023221 HP:0100559 16 Feb 2016 Finding Lower limb deficiency hypospadias 16 Feb 2016 Disease Lower limb deficiency-hypospadias syndrome MONDO C2930962 MONDO:0016639 17 Apr 2020 Disease Lower limb dysmetria Human Phenotype Ontology C4703378 HP:0020035 04 Apr 2018 Finding Lower limb hyperreflexia Human Phenotype Ontology C1836696 HP:0002395 16 Feb 2016 Finding Lower limb hypertonia Human Phenotype Ontology C1845245 HP:0006895 16 Feb 2016 Finding Lower limb hypertrophy MONDO CN261036 MONDO:0017477 17 Apr 2020 Disease Lower limb muscle weakness Human Phenotype Ontology C1836296 HP:0007340 16 Feb 2016 Finding Lower limb pain Human Phenotype Ontology C0023222 HP:0012514 16 Feb 2016 Finding Lower limb peromelia Human Phenotype Ontology C4024196 HP:0009820 16 Feb 2016 Finding Lower limb phocomelia Human Phenotype Ontology C0265625 HP:0009819 16 Feb 2016 Finding Lower limb spasticity Human Phenotype Ontology C1271100 HP:0002061 16 Feb 2016 Finding Lower limb undergrowth Human Phenotype Ontology C0345371 HP:0009816 16 Feb 2016 Finding Lower limbs spasticity 07 Sep 2018 Finding Lower lip cancer MONDO C0432520 MONDO:0004673 17 Apr 2020 Disease Lower lip fistula MONDO CN228937 MONDO:0015382 17 Apr 2020 Disease Lower lip pit Human Phenotype Ontology C1861544 HP:0000196 16 Feb 2016 Finding Lower mesodermal defects 16 Feb 2016 Disease lower motor neuron disorder 21 May 2020 Finding Lower respiratory tract disease MONDO C1290325 MONDO:0000270 17 Apr 2020 Disease Lower thoracic interpediculate narrowness Human Phenotype Ontology C1854940 HP:0008470 16 Feb 2016 Finding Lower thoracic kyphosis Human Phenotype Ontology C1864361 HP:0004633 16 Feb 2016 Finding Lower urinary tract calculus MONDO C0156264 MONDO:0004828 17 Apr 2020 Disease Lower Urinary Tract Obstruction 11 Jan 2019 Disease LOWER URINARY TRACT OBSTRUCTION, CONGENITAL OMIM C5231427 618612 618612 06 Oct 2019 Disease lower-extremity predominant spinal muscular atrophy 26 Feb 2020 Finding Lower-limb metaphyseal irregularity Human Phenotype Ontology C4022534 HP:0030291 16 Feb 2016 Finding Lowry syndrome 16 Feb 2016 Disease Lowry Yong syndrome 16 Feb 2016 Disease Lowry-MacLean syndrome MONDO C0796020 MONDO:0010851 600252 22 Apr 2020 Disease Lowry-wood syndrome MONDO C0796021 MONDO:0009191 226960 22 Apr 2020 Disease LOX-Related Disorder 29 Aug 2019 Disease Lpl-arita NCBI curation 16 Feb 2016 Disease LRP5-related primary osteoporosis MONDO CN258512 MONDO:0044675 17 Apr 2020 Disease LTBP2-related Disorder 13 Oct 2017 Disease LTBP2-Related Disorders 23 May 2019 Disease Lucey-Driscoll syndrome C0270210 237900 16 Feb 2016 Disease Lucky Gelehrter syndrome 16 Feb 2016 Disease Luder-Sheldon syndrome NCBI curation 16 Feb 2016 Disease Ludwig's angina MONDO C0024081 MONDO:0006576 04 Jun 2020 Infectious disease Lujo hemorrhagic fever MONDO C4274433 MONDO:0017872 04 Jun 2020 Infectious disease LuLu phenotype NCBI curation C1292230 247420 16 Feb 2016 Disease Lumbar disc degeneration, susceptibility to NCBI curation C2675551 16 Feb 2016 Disease Lumbar disc disease NCBI curation 16 Feb 2016 Disease Lumbar disc disease, susceptibility to NCBI curation 16 Feb 2016 Disease Lumbar disc herniation, susceptibility to NCBI curation C2676840 16 Feb 2016 Disease Lumbar hemivertebrae Human Phenotype Ontology C0432149 HP:0008439 16 Feb 2016 Finding Lumbar hyperlordosis Human Phenotype Ontology C1184923 HP:0002938 16 Feb 2016 Finding Lumbar hypertrichosis Human Phenotype Ontology C4023130 HP:0011913 16 Feb 2016 Finding Lumbar interpedicular narrowing Human Phenotype Ontology C1849079 HP:0008486 16 Feb 2016 Finding Lumbar kyphoscoliosis Human Phenotype Ontology C1834953 HP:0004619 16 Feb 2016 Finding Lumbar kyphosis Human Phenotype Ontology C1844818 HP:0008454 16 Feb 2016 Finding Lumbar kyphosis in infancy Human Phenotype Ontology C1863423 HP:0008414 16 Feb 2016 Finding Lumbar malsegmentation short stature 16 Feb 2016 Disease Lumbar platyspondyly Human Phenotype Ontology C4025136 HP:0005787 16 Feb 2016 Finding Lumbar plexus neoplasm MONDO C1334437 MONDO:0004546 17 Apr 2020 Disease Lumbar scoliosis Human Phenotype Ontology C2748518 HP:0004626 16 Feb 2016 Finding Lumbar spinal canal and spinal cord meningioma MONDO C1334436 MONDO:0004256 17 Apr 2020 Disease Lumbar spinal canal stenosis Human Phenotype Ontology C0158288 HP:0004610 16 Feb 2016 Finding Lumbar stenosis, familial NCBI curation C1835320 152550 16 Feb 2016 Disease Lumbosacral hirsutism Human Phenotype Ontology C1851095 HP:0009747 16 Feb 2016 Finding Lumbosacral lipoma MONDO C1334438 MONDO:0004077 17 Apr 2020 Disease Lumbosacral meningocele Human Phenotype Ontology C2675557 HP:0200133 16 Feb 2016 Finding Lumbosacral myelomeningocele CN228305 16 Feb 2016 Finding Lumbosacral plexus lesion MONDO C0154735 MONDO:0001829 17 Apr 2020 Disease Lumbosacral spina bifida aperta MONDO CN202424 MONDO:0017065 17 Apr 2020 Disease Lumbosacral spina bifida cystica MONDO CN202432 MONDO:0017072 17 Apr 2020 Disease lumbosacral transitional vertebrae with disc protrusion at L3-L4 22 Aug 2019 Finding Luminal A breast carcinoma MONDO C3642345 MONDO:0021116 17 Apr 2020 Disease Luminal B breast carcinoma MONDO C3642346 MONDO:0021115 17 Apr 2020 Disease Lumpy skin disease MONDO C0024106 MONDO:0005830 04 Jun 2020 Infectious disease Lunate-triquetral fusion Human Phenotype Ontology C1867930 HP:0004251 16 Feb 2016 Finding Lundberg syndrome 16 Feb 2016 Disease Lung abscess Human Phenotype Ontology C0024110 HP:0025044 02 Apr 2017 Infectious disease Lung adenocarcinoma Human Phenotype Ontology C0152013 HP:0030078 04 Apr 2018 Disease Lung adenocarcinoma in situ MONDO C4521520 MONDO:0000503 17 Apr 2020 Disease Lung adenoid cystic carcinoma MONDO C1334439 MONDO:0003181 17 Apr 2020 Disease Lung adenoma MONDO C0345964 MONDO:0003422 17 Apr 2020 Disease Lung benign neoplasm MONDO MONDO:0002732 17 Apr 2020 Disease Lung cancer NCBI curation C0684249 211980 16 Feb 2016 Disease Lung cancer susceptibility 1 NCBI curation C1837089 608935 16 Feb 2016 Disease Lung cancer susceptibility 2 NCBI curation C2677571 16 Feb 2016 Disease Lung cancer susceptibility 3 NCBI curation C2675497 612571 16 Feb 2016 Disease Lung cancer susceptibility 4 NCBI curation C2675479 612593 16 Feb 2016 Disease Lung cancer susceptibility 5 NCBI curation C3280156 614210 16 Feb 2016 Disease Lung cancer, protection against NCBI curation C1968897 16 Feb 2016 Disease Lung cancer, protection against, in smokers NCBI curation C1969821 16 Feb 2016 Disease LUNG CANCER, SUSCEPTIBILITY TO NCBI curation 13 May 2016 Disease Lung carcinoid tumor MONDO C0280089 MONDO:0006041 17 Apr 2020 Disease Lung carcinoid tumor Human Phenotype Ontology C0280089 HP:0030445 17 Apr 2020 Disease Lung carcinoma in situ MONDO C0685053 MONDO:0004660 17 Apr 2020 Disease Lung colloid adenocarcinoma MONDO C1708776 MONDO:0027772 17 Apr 2020 Disease Lung combined large cell neuroendocrine carcinoma MONDO C1333122 MONDO:0004142 17 Apr 2020 Disease Lung combined type small cell adenocarcinoma MONDO MONDO:0000532 17 Apr 2020 Disease Lung damage, immunodeficiency and chromosome breakage syndrome CN239026 08 Nov 2016 Disease Lung disease, immunodeficiency, and chromosome breakage syndrome NCBI curation C4310653 617241 20 Jun 2017 Disease Lung disease, non-specific NCBI curation C3279211 16 Feb 2018 Finding Lung epithelial-myoepithelial carcinoma MONDO C1708770 MONDO:0020697 17 Apr 2020 Disease Lung fibroma Human Phenotype Ontology C1334444 HP:0010616 16 Feb 2016 Finding LUNG FUNCTION, SMOKING-RELATED ACCELERATED RATE OF DECLINE IN CN262922 28 Nov 2019 Disease Lung germ cell tumor MONDO C1708771 MONDO:0037105 17 Apr 2020 Disease Lung giant cell carcinoma MONDO C0345960 MONDO:0006275 17 Apr 2020 Disease Lung herniation congenital defect of sternem 16 Feb 2016 Disease Lung hilum cancer MONDO MONDO:0004332 17 Apr 2020 Disease Lung hilum carcinoma MONDO C1334445 MONDO:0004499 17 Apr 2020 Disease Lung hilum neoplasm MONDO C1290358 MONDO:0003639 17 Apr 2020 Disease Lung inflammatory myofibroblastic tumor MONDO C1518038 MONDO:0006276 17 Apr 2020 Disease Lung leiomyoma MONDO C1334447 MONDO:0003293 17 Apr 2020 Disease Lung leiomyosarcoma MONDO C1334448 MONDO:0003357 17 Apr 2020 Disease Lung lymphoma MONDO C1704383 MONDO:0003987 17 Apr 2020 Disease Lung meningioma MONDO C1334450 MONDO:0003638 17 Apr 2020 Disease Lung mixed small cell and squamous cell carcinoma MONDO C1334788 MONDO:0004100 17 Apr 2020 Disease Lung mucous gland adenoma MONDO C1332640 MONDO:0004079 17 Apr 2020 Disease Lung neoplasm MONDO MONDO:0021117 17 Apr 2020 Disease Lung non-Hodgkin lymphoma MONDO C1334453 MONDO:0020644 17 Apr 2020 Disease Lung oat cell carcinoma MONDO C0262584 MONDO:0003436 17 Apr 2020 Disease Lung occult adenocarcinoma MONDO C1335096 MONDO:0004127 17 Apr 2020 Disease Lung occult large cell carcinoma MONDO C1335095 MONDO:0004128 17 Apr 2020 Disease Lung occult squamous cell carcinoma MONDO C1335100 MONDO:0003904 17 Apr 2020 Disease Lung papilloma MONDO C0281373 MONDO:0006278 17 Apr 2020 Disease Lung PEComa MONDO C4684821 MONDO:0020588 17 Apr 2020 Disease Lung sarcoma MONDO C0598790 MONDO:0002426 17 Apr 2020 Disease Lung sarcomatoid carcinoma MONDO C1708781 MONDO:0006279 17 Apr 2020 Disease Lung sclerosing hemangioma MONDO C1509148 MONDO:0006280 17 Apr 2020 Disease Lung segmentation defects C0685695 16 Feb 2016 Finding Lung signet ring cell carcinoma MONDO C1708782 MONDO:0006281 17 Apr 2020 Disease Lung superior sulcus carcinoma MONDO C1336529 MONDO:0004500 17 Apr 2020 Disease lung transplantation PharmGKB CN236687 06 Jul 2018 Disease Lunulae of fingernails NCBI curation C1186306 152600 16 Feb 2016 Disease Lupus anticoagulant Human Phenotype Ontology C4321325 HP:0025343 02 Apr 2017 Finding Lupus erythematosus MONDO C0409974 MONDO:0004670 17 Apr 2020 Disease Lupus erythematosus panniculitis MONDO C0030327 MONDO:0019561 17 Apr 2020 Disease Lupus erythematosus tumidus MONDO C0406636 MONDO:0019560 17 Apr 2020 Disease Lupus nephritis C0024143 16 Feb 2016 Disease Lupus nephritis, susceptibility to NCBI curation 16 Feb 2016 Disease Lupus vulgaris MONDO C0024131 MONDO:0006838 04 Jun 2020 Infectious disease Lurie Kletsky syndrome 16 Feb 2016 Disease Luscan-lumish syndrome NCBI curation C4085873 616831 23 Oct 2016 Disease Luse bodies Human Phenotype Ontology C4531072 HP:0031513 04 Apr 2018 Finding LUTEINIZING HORMONE POLYMORPHISM 16 Feb 2016 Disease Luteinizing hormone releasing hormone, deficiency of with ataxia 16 Feb 2016 Disease Luteinizing hormone resistance, female NCBI curation C3668935 16 Feb 2016 Disease Luteinizing hormone/choriogonadotropin receptor, lq variant NCBI curation 16 Feb 2016 Disease Lutembacher syndrome MONDO C0024164 MONDO:0006839 17 Apr 2020 Disease Luteoma of pregnancy MONDO MONDO:0004387 17 Apr 2020 Disease LUTHERAN BLOOD GROUP POLYMORPHISM Lu(a)/Lu(b) 16 Feb 2016 Blood group Lutz-Lewandowsky epidermodysplasia verruciformis 16 Feb 2016 Disease Luxation of globe MONDO C0154806 MONDO:0001523 17 Apr 2020 Disease Lyme disease MONDO C0024198 MONDO:0019632 04 Jun 2020 Infectious disease Lymph node adenoid cystic carcinoma MONDO MONDO:0000715 17 Apr 2020 Disease Lymph node cancer MONDO MONDO:0001082 17 Apr 2020 Disease Lymph node disease MONDO C0272394 MONDO:0004928 17 Apr 2020 Disease Lymph node hypoplasia Human Phenotype Ontology C4025683 HP:0002732 16 Feb 2016 Finding Lymph node neoplasm C0596869 16 Feb 2016 Disease Lymph node palisaded myofibroblastoma MONDO C1335295 MONDO:0004528 17 Apr 2020 Disease Lymph node tuberculosis MONDO C0041316 MONDO:0005831 04 Jun 2020 Infectious disease Lymphadenitis Human Phenotype Ontology C0024205 HP:0002840 16 Feb 2016 Finding Lymphadenitis (disease) MONDO MONDO:0002052 17 Apr 2020 Disease Lymphadenopathy Human Phenotype Ontology C0497156 HP:0002716 16 Feb 2016 Finding Lymphadenopathy, angioimmunoblastic with dysproteinemia 16 Feb 2016 Disease Lymphangiectasis C0024214 16 Feb 2016 Disease Lymphangioendothelioma MONDO MONDO:0006841 17 Apr 2020 Disease Lymphangioma Human Phenotype Ontology C0024221 HP:0100764 16 Feb 2016 Disease Lymphangiomas CN244042 01 Jun 2017 Finding Lymphangiomyoma MONDO C0024223 MONDO:0006842 17 Apr 2020 Disease Lymphangiomyomatosis NCBI curation C0751674 606690 16 Feb 2016 Disease Lymphangiosarcoma MONDO C0024224 MONDO:0006282 17 Apr 2020 Disease Lymphangitis MONDO C0024225 MONDO:0005832 17 Apr 2020 Disease Lymphatic abnormalities 24 Nov 2017 Finding Lymphatic filariasis 16 Feb 2016 Disease Lymphatic malformation C0398368 16 Feb 2016 Disease Lymphatic malformation 3 NCBI curation C4747646 613480 08 Jul 2019 Disease LYMPHATIC MALFORMATION 8 OMIM C5231496 618773 618773 14 Feb 2020 Disease Lymphatic neoplasm 16 Feb 2016 Disease Lymphatic system cancer MONDO MONDO:0000612 17 Apr 2020 Disease Lymphatic vessel neoplasm Human Phenotype Ontology C0206619 HP:0012797 16 Feb 2016 Finding Lymphedema Human Phenotype Ontology C0240278 HP:0001004 16 Feb 2016 Finding Lymphedema hereditary type 2 C1704424 16 Feb 2016 Disease Lymphedema praecox NCBI curation C4746631 153200 16 Feb 2016 Disease Lymphedema ptosis 16 Feb 2016 Disease Lymphedema, cardiac septal defects, and characteristic facies NCBI curation C2677167 601927 16 Feb 2016 Disease Lymphedema, congenital 16 Feb 2016 Disease Lymphedema, congenital recessive NCBI curation C1855475 247440 16 Feb 2016 Disease Lymphedema, hereditary, IB NCBI curation C4747568 611944 10 Mar 2016 Disease Lymphedema, hereditary, ID NCBI curation C4747769 615907 10 Mar 2016 Disease Lymphedema, hereditary, III NCBI curation C4225184 616843 05 Jun 2016 Disease Lymphedema, primary, with myelodysplasia NCBI curation C3279664 614038 16 Feb 2016 Disease Lymphedema-cerebral arteriovenous anomaly syndrome MONDO C1835272 MONDO:0007917 152900 17 Apr 2020 Disease Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus NCBI curation C2675066 16 Feb 2016 Disease Lymphoadenopathic mastocytosis with eosinophilia MONDO MONDO:0015559 17 Apr 2020 Disease Lymphoblastic leukemia MONDO MONDO:0001018 17 Apr 2020 Disease Lymphoblastic leukemia, acute, with lymphomatous features NCBI curation C1855472 247640 16 Feb 2016 Disease Lymphoblastic lymphoma MONDO C0079748 MONDO:0000873 16 Feb 2016 Disease Lymphoblastic transformation, inhibition of NCBI curation C1855476 247430 16 Feb 2016 Disease Lymphoblastic transformation, intrinsic defect in NCBI curation C1855474 247450 16 Feb 2016 Disease Lymphocele MONDO C0024248 MONDO:0002968 17 Apr 2020 Disease Lymphocytes absent 16 Feb 2016 Disease Lymphocytic choriomeningitis MONDO C0024266 MONDO:0001449 04 Jun 2020 Infectious disease Lymphocytic colitis C0400822 16 Feb 2016 Disease Lymphocytic gastritis MONDO C1283271 MONDO:0002844 17 Apr 2020 Disease Lymphocytic hypereosinophilic syndrome MONDO CN203810 MONDO:0017835 17 Apr 2020 Disease Lymphocytic hypophysitis 16 Feb 2016 Disease Lymphocytic infiltrate of Jessner 16 Feb 2016 Disease Lymphocytoma cutis Human Phenotype Ontology C0311220 HP:0031549 04 Apr 2018 Finding Lymphocytosis Human Phenotype Ontology C0024282 HP:0100827 16 Feb 2016 Finding Lymphoedema C0024236 16 Feb 2016 Disease Lymphoepithelioma-like acinar prostate adenocarcinoma MONDO C1515864 MONDO:0004164 17 Apr 2020 Disease Lymphoepithelioma-like lung carcinoma MONDO C1708792 MONDO:0006283 17 Apr 2020 Disease Lymphoepithelioma-like thymic carcinoma MONDO C0279706 MONDO:0004297 17 Apr 2020 Disease Lymphogranuloma venereum C0024286 16 Feb 2016 Infectious disease Lymphohistiocytoid mesothelioma MONDO C1334464 MONDO:0004205 17 Apr 2020 Disease Lymphoid cholangitis Human Phenotype Ontology C4476898 HP:0030989 04 Apr 2018 Finding Lymphoid hemopathy MONDO CN228978 MONDO:0015757 17 Apr 2020 Disease Lymphoid interstitial pneumonia Human Phenotype Ontology C0264511 HP:0006527 247610 16 Feb 2016 Disease Lymphoid leukemia Human Phenotype Ontology C0023448 HP:0005526 16 Feb 2016 Disease Lymphoid leukemia (disease) MONDO MONDO:0005402 17 Apr 2020 Disease Lymphoid neoplasm MONDO C0598798 MONDO:0005157 17 Apr 2020 Disease Lymphoid system deterioration, progressive NCBI curation C1855473 247630 16 Feb 2016 Disease Lymphoid system disease MONDO MONDO:0044986 17 Apr 2020 Disease Lymphokine deficiency NCBI curation C1855471 247650 16 Feb 2016 Disease Lymphoma Orphanet C0024299 ORPHA223735 16 Feb 2016 Disease Lymphoma Human Phenotype Ontology C0024299 HP:0002665 16 Feb 2016 Disease Lymphoma AIDSrelated 16 Feb 2016 Disease lymphoma cancer CN235598 19 Mar 2016 Finding Lymphoma, B-Cell 06 Jul 2018 Disease Lymphoma, B-Cell;Lymphoma, Follicular;Lymphoma, Large-Cell, Diffuse;Lymphoma, Non-Hodgkin PharmGKB 17 Feb 2017 Disease Lymphoma, gastric non Hodgkins type 16 Feb 2016 Disease Lymphoma, Hodgkin, X-linked pseudoautosomal MONDO C1846167 MONDO:0010273 300221 22 Apr 2020 Disease Lymphoma, hodgkin, Y-linked pseudoautosomal NCBI curation C1839076 400021 24 Aug 2016 Disease Lymphoma, large-cell 16 Feb 2016 Disease Lymphoma, Large-Cell, Diffuse PharmGKB CN236674 18 May 2016 Disease Lymphoma, small cleaved-cell, diffuse 16 Feb 2016 Disease Lymphoma, small cleaved-cell, follicular 16 Feb 2016 Disease Lymphoma, somatic NCBI curation C4016806 16 Feb 2016 Disease Lymphoma, T-Cell PharmGKB CN236634 18 May 2016 Disease Lymphoma-like variant infiltrating bladder urothelial carcinoma MONDO C1512739 MONDO:0004419 17 Apr 2020 Disease Lymphomatoid granulomatosis C0024307 16 Feb 2016 Disease Lymphomatoid papulosis C0206182 16 Feb 2016 Disease Lymphomatous thyroiditis 16 Feb 2016 Disease Lymphopenia Human Phenotype Ontology C0024312 HP:0001888 16 Feb 2016 Finding Lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis NCBI curation C1855470 247800 16 Feb 2016 Disease Lymphoplasmacyte-rich meningioma MONDO C0431119 MONDO:0003056 17 Apr 2020 Disease Lymphoplasmacytic lymphoma without IgM production MONDO CN237661 MONDO:0018621 17 Apr 2020 Disease Lymphoproliferative disease associated with primary immune disease MONDO CN206986 MONDO:0020084 17 Apr 2020 Disease Lymphoproliferative disorder Human Phenotype Ontology C0024314 HP:0005523 16 Feb 2016 Finding Lymphoproliferative disorders, susceptibility to NCBI curation 16 Feb 2016 Disease Lymphoproliferative syndrome OMIM phenotypic series CN228424 PS308240 16 Feb 2016 Disease Lymphoproliferative syndrome 1 NCBI curation C3552634 613011 16 Feb 2016 Disease Lymphoproliferative syndrome 1, X-linked NCBI curation C1868674 308240 16 Feb 2016 Disease Lymphoproliferative syndrome 2 NCBI curation C3554540 615122 16 Feb 2016 Disease Lymphoproliferative syndrome 2, X-linked NCBI curation C1845076 300635 16 Feb 2016 Disease Lymphosarcoma C3714542 16 Feb 2016 Disease Lynch Lee Murday syndrome 16 Feb 2016 Disease Lynch syndrome NCBI curation C4552100 Lynch syndrome 16 Feb 2016 Disease Lynch syndrome C1333990 19 Jun 2020 Disease Lynch syndrome I NCBI curation C2936783 120435 16 Feb 2016 Disease Lynch syndrome II NCBI curation C1333991 609310 16 Feb 2016 Disease Lysine malabsorption syndrome NCBI curation C0796023 247950 16 Feb 2016 Disease Lysinuric protein intolerance C0268647 222700 16 Feb 2016 Disease Lysosomal acid lipase deficiency NCBI curation C0043208 278000 16 Feb 2016 Disease Lysosomal disease with epilepsy MONDO CN201328 MONDO:0016397 17 Apr 2020 Disease Lysosomal disease with hypertrophic cardiomyopathy MONDO CN201159 MONDO:0016326 17 Apr 2020 Disease Lysosomal disease with restrictive cardiomyopathy MONDO CN201171 MONDO:0016341 17 Apr 2020 Disease Lysosomal glycogen storage disease MONDO CN203642 MONDO:0017738 17 Apr 2020 Disease Lysosomal lipid storage disorder MONDO C0023794 MONDO:0019245 17 Apr 2020 Disease Lysteria monocytoigeneses meningitis 16 Feb 2016 Disease LYSYL OXIDASE POLYMORPHISM 16 Feb 2016 Disease Lytic defects in metaphyses of the upper limbs Human Phenotype Ontology C4025554 HP:0003851 16 Feb 2016 Finding Lytic defects of carpal bones Human Phenotype Ontology C4025400 HP:0004238 16 Feb 2016 Finding Lytic defects of humeral diaphysis Human Phenotype Ontology C4021705 HP:0003930 16 Feb 2016 Finding Lytic defects of radial diaphysis Human Phenotype Ontology C4025432 HP:0004029 16 Feb 2016 Finding Lytic defects of radial metaphysis Human Phenotype Ontology C4025439 HP:0004021 16 Feb 2016 Finding Lytic defects of the forearm bones Human Phenotype Ontology C4025476 HP:0003963 16 Feb 2016 Finding Lytic defects of the humeral metaphysis Human Phenotype Ontology C4025512 HP:0003915 16 Feb 2016 Finding Lytic defects of the radius Human Phenotype Ontology C4021841 HP:0003979 16 Feb 2016 Finding Lytic defects of ulnar metaphysis Human Phenotype Ontology C4025421 HP:0004043 16 Feb 2016 Finding Lytic metastatic bone lesion MONDO MONDO:0043731 17 Apr 2020 Disease LZTR1-Related Disorder 13 Oct 2017 Disease Löfgren syndrome MONDO MONDO:0020666 17 Apr 2020 Disease Machado-Joseph disease type 1 MONDO C0751668 MONDO:0017174 17 Apr 2020 Disease Machado-Joseph disease type 2 MONDO C0751669 MONDO:0017175 17 Apr 2020 Disease Machado-Joseph disease type 3 MONDO C0751670 MONDO:0017176 17 Apr 2020 Disease Machado-Joseph disease type 4 MONDO C0686352 MONDO:0042964 17 Apr 2020 Disease Machado-Joseph disease type 5 MONDO MONDO:0042965 17 Apr 2020 Disease MacInnes syndrome NCBI curation C4479431 617412 20 Jun 2017 Disease Macrocephalic sperm head Human Phenotype Ontology C4476776 HP:0025437 04 Apr 2018 Finding Macrocephalus NCBI curation C2243051 15 Aug 2018 Disease macrocephalus with trigonocephaly 22 Oct 2019 Finding Macrocephaly at birth Human Phenotype Ontology C1836599 HP:0004488 16 Feb 2016 Finding Macrocephaly with multiple epiphyseal dysplasia and distinctive facies NCBI curation C1846722 607131 16 Feb 2016 Disease MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT OMIM C4748993 618286 618286 24 Jan 2019 Disease Macrocephaly, alopecia, cutis laxa, and scoliosis NCBI curation C2751321 613075 16 Feb 2016 Disease Macrocephaly, benign familial C0220690 153470 16 Feb 2016 Disease Macrocephaly, dysmorphic facies, and psychomotor retardation NCBI curation C4310766 617011 24 Aug 2016 Disease Macrocephaly, macrosomia, facial dysmorphism syndrome NCBI curation 16 Feb 2016 Disease Macrocephaly, mental retardation, short stature, spastic paraplegia and CNS malformations 16 Feb 2016 Disease Macrocephaly-short stature-paraplegia syndrome MONDO C2931595 MONDO:0016571 17 Apr 2020 Disease Macrocephaly/autism syndrome NCBI curation C1854416 605309 16 Feb 2016 Disease Macrocephaly/megalencephaly syndrome, autosomal recessive NCBI curation C3806412 248000 05 Mar 2019 Disease Macrocystic lymphatic malformation MONDO C0205828 MONDO:0019328 17 Apr 2020 Disease Macrocytic anemia Human Phenotype Ontology C0002886 HP:0001972 16 Feb 2016 Finding Macrocytic dyserythropoietic anemia Human Phenotype Ontology C4025183 HP:0005532 16 Feb 2016 Finding Macrocytic hemolytic disease Human Phenotype Ontology C4025185 HP:0005524 16 Feb 2016 Finding Macrocytosis, familial NCBI curation C1838656 600084 16 Feb 2016 Disease Macrodactyly Human Phenotype Ontology C2117323 HP:0004099 16 Feb 2016 Finding Macrodactyly of finger Human Phenotype Ontology C0158763 HP:0100746 16 Feb 2016 Finding Macrodactyly of fingers CN234997 16 Feb 2016 Finding Macrodactyly of fingers, bilateral MONDO CN260710 MONDO:0017565 17 Apr 2020 Disease Macrodactyly of fingers, unilateral MONDO MONDO:0017564 17 Apr 2020 Disease Macrodactyly of the foot 16 Feb 2016 Disease Macrodactyly of the hand 16 Feb 2016 Disease Macrodactyly of toe Human Phenotype Ontology C0158768 HP:0100747 16 Feb 2016 Finding Macrodactyly of toes, bilateral MONDO CN260712 MONDO:0017567 17 Apr 2020 Disease Macrodactyly of toes, unilateral MONDO MONDO:0017566 17 Apr 2020 Disease MACRODACTYLY, SOMATIC 11 Oct 2018 Disease Macrodontia Human Phenotype Ontology C0266036 HP:0001572 16 Feb 2016 Finding Macrodontia of permanent maxillary central incisor Human Phenotype Ontology C1835095 HP:0000675 16 Feb 2016 Finding Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance C2931597 248010 16 Feb 2016 Disease Macroglobulinemia MONDO MONDO:0005190 17 Apr 2020 Disease Macroglobulinemia, waldenstrom 2 NCBI curation C1864876 610430 16 Feb 2016 Disease Macroglobulinemia, waldenstrom, somatic NCBI curation C3549870 23 Sep 2018 Disease Macroglossia C0024421 153630 16 Feb 2016 Disease Macrogyria Human Phenotype Ontology C0266483 HP:0007227 16 Feb 2016 Disease Macrogyria, pseudobulbar palsy and mental retardation C2931598 16 Feb 2016 Disease Macronodular adrenal hyperplasia Human Phenotype Ontology C0342495 HP:0008231 16 Feb 2016 Finding Macronodular cirrhosis Human Phenotype Ontology C2004456 HP:0006577 16 Feb 2016 Finding Macroorchidism Human Phenotype Ontology C1263023 HP:0000053 16 Feb 2016 Finding Macroorchidism, postpubertal Human Phenotype Ontology C1839782 HP:0002050 16 Feb 2016 Finding Macrophage activation syndrome MONDO C1096155 MONDO:0015545 17 Apr 2020 Disease Macrophage or histiocytic tumor MONDO CN206983 MONDO:0020081 17 Apr 2020 Disease Macrophagic myofasciitis C2931639 16 Feb 2016 Disease Macrophthalmia, colobomatous, with microcornea NCBI curation C1865286 602499 16 Feb 2016 Disease Macroprolactinoma Human Phenotype Ontology C0344453 HP:0012342 16 Feb 2016 Finding Macroscopic hematuria Human Phenotype Ontology C0473237 HP:0012587 16 Feb 2016 Finding Macrosomia adiposa congenita NCBI curation C1855468 248100 16 Feb 2016 Disease Macrosomia-microphthalmia-cleft palate syndrome MONDO C1855467 MONDO:0009547 248110 17 Apr 2020 Disease Macrosomy CN233366 16 Feb 2016 Finding Macrostomia, isolated NCBI curation C3150792 613545 16 Feb 2016 Disease Macrostomia-preauricular tags-external ophthalmoplegia syndrome MONDO CN206081 MONDO:0019387 17 Apr 2020 Disease Macrothrombocytopenia Human Phenotype Ontology C2751260 HP:0040185 02 Apr 2017 Finding Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss NCBI curation C0340978 155100 22 Jun 2018 Disease Macrothrombocytopenia progressive deafness 16 Feb 2016 Disease Macrothrombocytopenia, familial, Bernard-Soulier type NCBI curation C4016131 16 Feb 2016 Disease Macrothrombocytopenia/stomatocytosis, mediterranean NCBI curation 16 Feb 2016 Disease Macrotia Human Phenotype Ontology C0152421 HP:0000400 16 Feb 2016 Finding Macrotrabecular hepatoblastoma MONDO C1334543 MONDO:0003651 17 Apr 2020 Disease Macrovesicular hepatic steatosis Human Phenotype Ontology C1837256 HP:0001403 16 Feb 2016 Finding Macular atrophy Human Phenotype Ontology C0423421 HP:0007401 16 Feb 2016 Finding Macular corneal dystrophy Type I C1636149 217800 16 Feb 2016 Disease Macular corneal dystrophy, type II NCBI curation C1691013 26 May 2016 Disease Macular cotton wool spot Human Phenotype Ontology C4072985 HP:0030497 04 Apr 2018 Finding Macular crystals Human Phenotype Ontology C4072988 HP:0030501 16 Feb 2016 Finding Macular degeneration Human Phenotype Ontology C0024437 HP:0000608 16 Feb 2016 Disease MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO 16 Feb 2016 Disease MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO C4016436 16 Feb 2016 Disease Macular degeneration, age-related, 15 NCBI curation C3810042 615591 24 Aug 2016 Disease MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO 16 Feb 2016 Disease MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO 16 Feb 2016 Disease Macular degeneration, age-related, neovascular type} CN260105 20 Jun 2019 Disease Macular degeneration, early-onset NCBI curation C4015286 616118 16 Feb 2016 Disease Macular degeneration, X-linked atrophic NCBI curation C3151784 300834 16 Feb 2016 Disease Macular drusen Human Phenotype Ontology C0677628 HP:0030499 16 Feb 2016 Finding Macular dystrophy Human Phenotype Ontology C0730292 HP:0007754 16 Feb 2016 Finding Macular dystrophy with central cone involvement NCBI curation C4015371 616170 16 Feb 2016 Disease Macular dystrophy, fenestrated sheen type NCBI curation C1835173 153890 16 Feb 2016 Disease Macular dystrophy, patterned OMIM phenotypic series CN069802 PS169150 16 Feb 2016 Disease Macular dystrophy, patterned, 2 NCBI curation C1837029 608970 24 Aug 2016 Disease Macular dystrophy, patterned, 3 NCBI curation C4310713 617111 20 Jun 2017 Disease Macular dystrophy, retinal, 3 NCBI curation C3888009 608850 16 Feb 2016 Disease Macular dystrophy, vitelliform, 4 NCBI curation C4015342 616151 16 Feb 2016 Disease Macular dystrophy, vitelliform, 5 NCBI curation C4015343 616152 16 Feb 2016 Disease Macular dystrophy, vitelliform, adult-onset NCBI curation C1842914 608161 16 Feb 2016 Disease Macular dystrophy, X-linked NCBI curation C1839842 309100 16 Feb 2016 Disease Macular edema Human Phenotype Ontology C0271051 HP:0040049 16 Feb 2016 Finding Macular exudate Human Phenotype Ontology C1827223 HP:0030496 04 Apr 2018 Finding Macular flecks Human Phenotype Ontology C4023322 HP:0011507 16 Feb 2016 Finding Macular hole Human Phenotype Ontology C0024441 HP:0011508 16 Feb 2016 Finding Macular hyperpigmentation Human Phenotype Ontology C0745109 HP:0011509 16 Feb 2016 Finding Macular hyperpigmented dermopathy Human Phenotype Ontology C4024885 HP:0007412 16 Feb 2016 Finding Macular hypopigmentation Human Phenotype Ontology C4024759 HP:0007988 16 Feb 2016 Finding Macular hypopigmented whorls, streaks, and patches Human Phenotype Ontology C3806616 HP:0005593 16 Feb 2016 Finding Macular hypoplasia Human Phenotype Ontology C1849412 HP:0001104 16 Feb 2016 Finding Macular keratitis MONDO C0155076 MONDO:0001395 17 Apr 2020 Disease Macular microaneurysm/hemorrhage Human Phenotype Ontology C4072982 HP:0030494 16 Feb 2016 Finding Macular purpura Human Phenotype Ontology C4531173 HP:0031365 04 Apr 2018 Finding Macular scar Human Phenotype Ontology C0423428 HP:0200056 02 Apr 2017 Finding Macular schisis Human Phenotype Ontology C4023321 HP:0011511 16 Feb 2016 Finding Macular telangiectasia Human Phenotype Ontology C0339480 HP:0030503 16 Feb 2016 Finding Macular thickening Human Phenotype Ontology C4072986 HP:0030498 16 Feb 2016 Finding Macule Human Phenotype Ontology C0332573 HP:0012733 16 Feb 2016 Finding Maculopapular exanthema Human Phenotype Ontology C0423791 HP:0040186 16 Feb 2016 Finding maculopathy 22 Oct 2019 Finding Mada deficiency NCBI curation 16 Feb 2016 Disease Madelung deformity Human Phenotype Ontology C0152441 HP:0003067 16 Feb 2016 Disease Madelung deformity, bilateral MONDO MONDO:0017557 17 Apr 2020 Disease Madelung deformity, unilateral MONDO MONDO:0017556 17 Apr 2020 Disease Madelung disease 16 Feb 2016 Disease Madelung-like forearm deformities Human Phenotype Ontology C1851419 HP:0003068 16 Feb 2016 Finding Madokoro Ohdo Sonoda syndrome 16 Feb 2016 Disease Madras motor neuron disease MONDO C0393551 MONDO:0015307 17 Apr 2020 Disease Maffucci syndrome NCBI curation C0024454 614569 16 Feb 2016 Disease Magic syndrome MONDO C0406568 MONDO:0017958 17 Apr 2020 Disease Magnesium deficiency MONDO C0024473 MONDO:0006844 17 Apr 2020 Disease Magnesium, elevated red cell NCBI curation C1855464 248260 16 Feb 2016 Disease Main bronchus cancer MONDO C0153490 MONDO:0002811 17 Apr 2020 Disease Maintenance insomnia Human Phenotype Ontology C4531176 HP:0031355 04 Apr 2018 Finding Majeed syndrome C1864997 609628 16 Feb 2016 Disease Major affective disorder 1 NCBI curation C1852197 125480 16 Feb 2016 Disease Major affective disorder 2 NCBI curation C1839839 309200 16 Feb 2016 Disease Major affective disorder 3 NCBI curation C1864994 609633 16 Feb 2016 Disease Major affective disorder 4 NCBI curation C1970943 611247 16 Feb 2016 Disease Major affective disorder 5 NCBI curation C1970944 611535 16 Feb 2016 Disease Major affective disorder 6 NCBI curation C1970945 611536 16 Feb 2016 Disease Major affective disorder 7 NCBI curation C2700438 612371 16 Feb 2016 Disease Major affective disorder 7, susceptibility to NCBI curation 16 Feb 2016 Disease Major affective disorder 8 NCBI curation C2700439 612357 16 Feb 2016 Disease Major affective disorder 9 NCBI curation C2700440 612372 16 Feb 2016 Disease major depression 05 Sep 2019 Finding Major depressive disorder NCBI curation C1269683 608516 06 Jul 2018 Disease Major depressive disorder 1 NCBI curation C1837929 608520 16 Feb 2016 Disease Major depressive disorder 2 NCBI curation C1837529 608691 16 Feb 2016 Disease Major depressive disorder, increased recurrence of depressive episodes in, susceptibility to NCBI curation 16 Feb 2016 Disease Major depressive disorder, response to citalopram therapy in NCBI curation C4016374 16 Feb 2016 Disease Major hypertriglyceridemia MONDO MONDO:0015902 17 Apr 2020 Disease Major induction processes eye anomaly MONDO MONDO:0020146 17 Apr 2020 Disease Major salivary gland adenoid cystic carcinoma MONDO C1334548 MONDO:0045063 17 Apr 2020 Disease Major salivary gland cancer MONDO C0496763 MONDO:0044743 17 Apr 2020 Disease Major salivary gland carcinoma MONDO C1334549 MONDO:0006284 17 Apr 2020 Disease Major salivary gland carcinoma ex pleomorphic adenoma MONDO C1334550 MONDO:0006285 17 Apr 2020 Disease Major salivary gland mucoepidermoid carcinoma MONDO C1334551 MONDO:0006286 17 Apr 2020 Disease Mal de debarquement C1608983 16 Feb 2016 Disease Malabsorption Human Phenotype Ontology C3714745 HP:0002024 16 Feb 2016 Finding Malabsorption of Vitamin B12 Human Phenotype Ontology C0750292 HP:0200118 16 Feb 2016 Finding Malabsorption syndrome MONDO C0024523 MONDO:0020598 17 Apr 2020 Disease malaise and fatigue 14 Mar 2019 Finding Malakoplakia C0024525 16 Feb 2016 Disease Malaligned carpal bone Human Phenotype Ontology C1856742 HP:0006092 16 Feb 2016 Finding Malaligned philtral ridges Human Phenotype Ontology C4021117 HP:0011827 16 Feb 2016 Finding Malalignment of the great toenail Human Phenotype Ontology C4531228 HP:0031282 04 Apr 2018 Finding Malar flattening Human Phenotype Ontology C1858085 HP:0000272 16 Feb 2016 Finding Malar prominence Human Phenotype Ontology C1858732 HP:0010620 16 Feb 2016 Finding Malar rash Human Phenotype Ontology C0277942 HP:0025300 02 Apr 2017 Finding Malaria C0024530 16 Feb 2016 Infectious disease Malaria, avian MONDO C0024533 MONDO:0025095 04 Jun 2020 Infectious disease Malaria, cerebral, resistance to NCBI curation C1969379 16 Feb 2016 Disease Malaria, cerebral, susceptibility to NCBI curation C1855457 16 Feb 2016 Disease Malaria, mild, susceptibility to NCBI curation C1836721 609148 16 Feb 2016 Disease Malaria, protection against NCBI curation 16 Feb 2016 Disease Malaria, resistance to NCBI curation C2720293 16 Feb 2016 Disease Malaria, severe, resistance to NCBI curation C1970030 16 Feb 2016 Disease Malaria, severe, susceptibility to NCBI curation C1970029 16 Feb 2016 Disease Malattia leventinese NCBI curation C1852020 16 Feb 2016 Disease Maldevelopment of radioulnar joint Human Phenotype Ontology C3149879 HP:0005829 16 Feb 2016 Finding Male anorgasmia Human Phenotype Ontology C4477043 HP:0040308 04 Apr 2018 Finding Male genital organ stricture MONDO C0156316 MONDO:0001496 17 Apr 2020 Disease Male genital organ vascular disease MONDO C0042374 MONDO:0001497 17 Apr 2020 Disease Male genital tuberculosis MONDO C0041317 MONDO:0006845 04 Jun 2020 Infectious disease Male germ cell tumor NCBI curation 16 Feb 2016 Disease Male germ cell tumor, somatic NCBI curation C3276200 11 Nov 2018 Disease Male hypogonadism Human Phenotype Ontology C0151721 HP:0000026 241100 16 Feb 2016 Disease Male infertility Human Phenotype Ontology C0021364 HP:0003251 16 Feb 2016 Disease Male infertility due to globozoospermia MONDO CN200297 MONDO:0015746 17 Apr 2020 Disease Male infertility due to gonadal dysgenesis MONDO CN229265 MONDO:0020090 17 Apr 2020 Disease Male infertility due to gonadal dysgenesis or sperm disorder MONDO CN227337 MONDO:0018389 17 Apr 2020 Disease Male infertility due to obstructive azoospermia CN229267 12 Apr 2019 Disease Male infertility due to obstructive azoospermia of genetic origin MONDO CN229165 MONDO:0018407 17 Apr 2020 Disease Male infertility due to sperm disorder MONDO CN227338 MONDO:0018390 17 Apr 2020 Disease Male infertility due to sperm motility disorder MONDO CN227341 MONDO:0018395 17 Apr 2020 Disease Male infertility with azoospermia or oligozoospermia due to single gene mutation MONDO CN225947 MONDO:0018393 17 Apr 2020 Disease Male infertility with spermatogenesis disorder MONDO CN227339 MONDO:0018391 17 Apr 2020 Disease Male infertility with spermatogenesis disorder due to single gene mutation MONDO CN227340 MONDO:0018392 17 Apr 2020 Disease Male infertility with teratozoospermia due to single gene mutation Orphanet C4706677 ORPHA399808 12 Jul 2018 Disease Male orgasm disorder MONDO MONDO:0003522 17 Apr 2020 Disease Male pseudohermaphroditism Human Phenotype Ontology C0238395 HP:0000037 16 Feb 2016 Finding Male pseudohermaphroditism due to defective LH molecule C1835303 16 Feb 2016 Disease Male reproductive organ cancer MONDO MONDO:0005836 17 Apr 2020 Disease Male reproductive system disease MONDO MONDO:0003150 17 Apr 2020 Disease Male reproductive system neoplasm MONDO C0017417 MONDO:0024582 17 Apr 2020 Disease Male sexual dysfunction Human Phenotype Ontology C1112443 HP:0040307 04 Apr 2018 Finding Male urethral cancer MONDO C1518164 MONDO:0004197 17 Apr 2020 Disease MALEYLACETOACETATE ISOMERASE DEFICIENCY OMIM C1291607 617596 617596 29 Jul 2017 Disease Malformation of cortical development NCBI curation C1955869 16 Feb 2016 Disease Malformation of mandibular premolar Human Phenotype Ontology C4025061 HP:0006338 16 Feb 2016 Finding malformation of nervous system 05 Sep 2019 Finding Malformation of the cerebellar hemispheres MONDO CN227791 MONDO:0020131 17 Apr 2020 Disease Malformation of the cerebellar vermis MONDO CN227790 MONDO:0020130 17 Apr 2020 Disease Malformation of the heart and great vessels CN221285 16 Feb 2016 Disease Malformation of the hepatic ductal plate Human Phenotype Ontology C1857519 HP:0006563 16 Feb 2016 Finding Malformation of the leg bones CN232371 16 Feb 2016 Finding Malformation of the neurenteric canal, spinal cord and column MONDO CN227074 MONDO:0017085 17 Apr 2020 Disease Malformation syndrome with hamartosis MONDO CN206967 MONDO:0020063 17 Apr 2020 Disease Malformation syndrome with odontal and/or periodontal component MONDO CN199366 MONDO:0015336 17 Apr 2020 Disease Malformation syndrome with short stature MONDO CN199359 MONDO:0015329 17 Apr 2020 Disease Malformation syndrome with skin/mucosae involvement MONDO CN199361 MONDO:0015331 17 Apr 2020 Disease Malformations in neuronal migration 16 Feb 2016 Disease Malformative syndrome with dentinogenesis imperfecta MONDO CN200485 MONDO:0015877 17 Apr 2020 Disease Malformed lacrimal ducts Human Phenotype Ontology C4024757 HP:0007993 16 Feb 2016 Finding Malignancy diagnosed during pregnancy MONDO CN227116 MONDO:0017330 17 Apr 2020 Disease Malignancy in giant cell tumor of bone MONDO C0334552 MONDO:0006287 17 Apr 2020 Disease Malignant adrenal gland pheochromocytoma MONDO C0334419 MONDO:0006288 17 Apr 2020 Disease Malignant atrophic papulosis MONDO C0221011 MONDO:0011208 602248 22 Apr 2020 Disease Malignant biphasic mesothelioma MONDO C0334515 MONDO:0006109 17 Apr 2020 Disease Malignant breast melanoma MONDO C0346787 MONDO:0002975 17 Apr 2020 Disease Malignant breast myoepithelioma MONDO C1518167 MONDO:0003990 17 Apr 2020 Disease Malignant breast phyllodes tumor MONDO C0346154 MONDO:0002489 17 Apr 2020 Disease Malignant cardiac germ cell tumor MONDO C1334566 MONDO:0001991 17 Apr 2020 Disease Malignant cardiac peripheral nerve sheath neoplasm MONDO C1334569 MONDO:0001990 17 Apr 2020 Disease Malignant carotid body paraganglioma MONDO C0153656 MONDO:0004650 17 Apr 2020 Disease Malignant catarrh MONDO C0276241 MONDO:0025096 04 Jun 2020 Infectious disease Malignant central nervous system mesenchymal, non-meningothelial neoplasm MONDO C1334571 MONDO:0037740 17 Apr 2020 Disease Malignant childhood germ cell neoplasm MONDO C1334574 MONDO:0004479 17 Apr 2020 Disease Malignant Colorectal Neoplasm NCBI curation C0346629 15 Mar 2018 Disease Malignant conjunctival melanoma MONDO C0346360 MONDO:0002096 17 Apr 2020 Disease Malignant cornea melanoma MONDO C0346367 MONDO:0004550 17 Apr 2020 Disease Malignant cranial nerve neoplasm MONDO C0153644 MONDO:0002433 17 Apr 2020 Disease Malignant cutaneous granular cell skin tumor MONDO C1334575 MONDO:0004314 17 Apr 2020 Disease Malignant cylindroma 16 Feb 2016 Disease Malignant dermis tumor MONDO C0346811 MONDO:0003363 17 Apr 2020 Disease Malignant dysgerminomatous germ cell tumor of ovary MONDO CN207439 MONDO:0020538 17 Apr 2020 Disease Malignant eccrine spiradenoma 16 Feb 2016 Disease Malignant endocrine neoplasm MONDO MONDO:0021069 17 Apr 2020 Disease Malignant ependymoma MONDO MONDO:0021191 17 Apr 2020 Disease Malignant epithelial tumor of ovary MONDO C0346161 MONDO:0018364 17 Apr 2020 Disease Malignant epithelial tumor of salivary glands MONDO CN202591 MONDO:0017167 17 Apr 2020 Disease Malignant epithelioid mesothelioma MONDO C0862312 MONDO:0005599 17 Apr 2020 Disease Malignant essential hypertension MONDO C0024588 MONDO:0001133 17 Apr 2020 Disease Malignant exocrine pancreas neoplasm MONDO C0346648 MONDO:0002116 17 Apr 2020 Disease Malignant fibrous histiocytoma 16 Feb 2016 Disease Malignant gastric germ cell tumor MONDO C1334584 MONDO:0003112 17 Apr 2020 Disease Malignant gastric granular cell tumor MONDO C1334585 MONDO:0001057 17 Apr 2020 Disease malignant gastrointestinal stromal tumor resected CN235341 26 Feb 2016 Finding Malignant gastrointestinal tract tumors Human Phenotype Ontology C0685938 HP:0006749 16 Feb 2016 Finding Malignant genitourinary tract tumor Human Phenotype Ontology C1834728 HP:0006758 16 Feb 2016 Finding Malignant germ cell tumor 16 Feb 2016 Disease Malignant germ cell tumor of cervix uteri MONDO C4750752 MONDO:0016289 17 Apr 2020 Disease Malignant germ cell tumor of corpus uteri MONDO CN201062 MONDO:0016273 17 Apr 2020 Disease Malignant germ cell tumor of ovary NCBI curation C0346180 603737 16 Feb 2016 Disease Malignant giant cell tumor MONDO C0334229 MONDO:0002402 17 Apr 2020 Disease Malignant giant cell tumor of soft parts MONDO C0334554 MONDO:0003561 17 Apr 2020 Disease Malignant glandular tumor of peripheral nerve sheath MONDO C1333821 MONDO:0004559 17 Apr 2020 Disease Malignant Glioma C0555198 15 Mar 2019 Disease Malignant glomus tumor MONDO C1266111 MONDO:0003340 17 Apr 2020 Disease Malignant hemangioma MONDO C0474836 MONDO:0000898 17 Apr 2020 Disease Malignant hematological disorder CN873441 19 Mar 2018 Disease Malignant histiocytosis MONDO C0019623 MONDO:0004612 17 Apr 2020 Disease Malignant hypertension MONDO C0020540 MONDO:0006846 17 Apr 2020 Disease Malignant hypertensive renal disease MONDO C0155593 MONDO:0000959 17 Apr 2020 Disease Malignant hyperthermia Human Phenotype Ontology CN209346 HP:0002047 16 Feb 2016 Finding Malignant hyperthermia and exertional rhabdomyolosis NCBI curation CN221545 16 Feb 2016 Disease Malignant hyperthermia arthrogryposis torticollis 16 Feb 2016 Disease Malignant hyperthermia equivocal with halotane CN221590 16 Feb 2016 Disease Malignant hyperthermia susceptibility NCBI curation C0024591 16 Feb 2016 Pharmacological response Malignant hyperthermia, susceptibility to, 1 NCBI curation C2930980 145600 24 Aug 2016 Disease Malignant hyperthermia, susceptibility to, 2 MONDO C2930981 MONDO:0007939 154275 22 Apr 2020 Disease Malignant hyperthermia, susceptibility to, 3 MONDO C2930982 MONDO:0007940 154276 22 Apr 2020 Disease Malignant hyperthermia, susceptibility to, 4 MONDO C1838102 MONDO:0010893 600467 22 Apr 2020 Disease Malignant hyperthermia, susceptibility to, 5 MONDO C1866077 MONDO:0011163 601887 22 Apr 2020 Disease Malignant hyperthermia, susceptibility to, 6 MONDO C1866076 MONDO:0011164 601888 22 Apr 2020 Disease Malignant hypothermia CN234658 16 Feb 2016 Disease Malignant jugulotympanic paraganglioma MONDO C0347856 MONDO:0006291 17 Apr 2020 Disease Malignant leptomeningeal tumor MONDO C1334596 MONDO:0003762 17 Apr 2020 Disease Malignant Leydig cell tumor MONDO C0334410 MONDO:0000377 17 Apr 2020 Disease Malignant lymphatic vessel tumor MONDO MONDO:0006847 17 Apr 2020 Disease Malignant lymphoma with peripheral neuropathy MONDO CN229030 MONDO:0016138 17 Apr 2020 Disease Malignant lymphoma, large B-cell, diffuse NCBI curation C0079744 16 Feb 2016 Disease Malignant mediastinal neural neoplasm MONDO C0349665 MONDO:0021577 17 Apr 2020 Disease Malignant mediastinum hemangiopericytoma MONDO C1334598 MONDO:0003809 17 Apr 2020 Disease Malignant melanocytic neoplasm of the peripheral nerve sheath MONDO C0474847 MONDO:0003863 17 Apr 2020 Disease Malignant melanocytic peripheral nerve sheath tumor of mediastinum MONDO C1334600 MONDO:0004098 17 Apr 2020 Disease Malignant melanoma of skin NCBI curation C0151779 16 Feb 2016 Disease Malignant melanoma of the mucosa MONDO CN200193 MONDO:0015694 17 Apr 2020 Disease Malignant Melanoma Susceptibility C3836884 02 Dec 2016 Disease Malignant melanoma, childhood 16 Feb 2016 Disease Malignant mesenchymoma MONDO C0334492 MONDO:0003633 17 Apr 2020 Disease Malignant migrating partial seizures of infancy NCBI curation CN240507 09 Feb 2017 Disease Malignant mixed epithelial and mesenchymal tumor of cervix uteri MONDO CN201067 MONDO:0016277 17 Apr 2020 Disease Malignant mixed epithelial stromal tumor of the kidney MONDO C1334602 MONDO:0024711 17 Apr 2020 Disease Malignant mixed Mullerian tumor 16 Feb 2016 Disease Malignant mixed neoplasm MONDO C0206625 MONDO:0005853 17 Apr 2020 Disease Malignant myoepithelioma MONDO C0334699 MONDO:0003158 17 Apr 2020 Disease Malignant neoplasm of abdominal esophagus MONDO C0496775 MONDO:0021324 17 Apr 2020 Disease Malignant neoplasm of acoustic nerve MONDO C0346331 MONDO:0002432 17 Apr 2020 Disease Malignant neoplasm of body of uterus NCBI curation C0153574 02 Mar 2017 Disease Malignant neoplasm of brain NCBI curation C0153633 16 Feb 2016 Disease Malignant neoplasm of cervical esophagus MONDO C0496773 MONDO:0021326 17 Apr 2020 Disease Malignant neoplasm of chest wall MONDO C0346948 MONDO:0021323 17 Apr 2020 Disease Malignant neoplasm of endocervix MONDO MONDO:0021309 17 Apr 2020 Disease Malignant neoplasm of other specified sites of female breast NCBI curation C0153555 16 Feb 2016 Disease Malignant neoplasm of the central nervous system Human Phenotype Ontology C0348374 HP:0100836 16 Feb 2016 Finding Malignant neoplasm of thoracic esophagus MONDO C0153411 MONDO:0021325 17 Apr 2020 Disease Malignant non-epithelial tumor of ovary MONDO CN205032 MONDO:0018365 17 Apr 2020 Disease Malignant otitis externa MONDO C0155395 MONDO:0001050 04 Jun 2020 Infectious disease Malignant otitis externa caused by Pseudomonas aeruginosa MONDO C0395818 MONDO:0041095 04 Jun 2020 Infectious disease Malignant ovarian Brenner tumor MONDO C0334495 MONDO:0002920 17 Apr 2020 Disease Malignant ovarian cyst MONDO C0235770 MONDO:0002224 17 Apr 2020 Disease Malignant ovarian serous tumor MONDO C1518234 MONDO:0024885 17 Apr 2020 Disease Malignant pancreatic neoplasm MONDO MONDO:0009831 17 Apr 2020 Disease Malignant parietal pleura tumor MONDO C0153495 MONDO:0001861 17 Apr 2020 Disease Malignant paroxysmal ventricular tachycardia 16 Feb 2016 Disease Malignant pericardial mesothelioma MONDO MONDO:0003805 17 Apr 2020 Disease Malignant perineurioma MONDO C1266188 MONDO:0016751 17 Apr 2020 Disease Malignant peritoneal germ cell tumor MONDO C4526657 MONDO:0040673 17 Apr 2020 Disease Malignant peritoneal solitary fibrous tumor MONDO MONDO:0003017 17 Apr 2020 Disease Malignant phyllodes tumor MONDO C0600066 MONDO:0037003 17 Apr 2020 Disease Malignant pineal area germ cell neoplasm MONDO MONDO:0002073 17 Apr 2020 Disease Malignant pleural solitary fibrous tumor MONDO MONDO:0000407 17 Apr 2020 Disease Malignant prostate phyllodes tumor MONDO C1334615 MONDO:0000994 17 Apr 2020 Disease Malignant renal pelvis neoplasm MONDO C0153618 MONDO:0044919 17 Apr 2020 Disease Malignant renovascular hypertension MONDO MONDO:0001784 17 Apr 2020 Disease Malignant rhabdoid tumor, somatic NCBI curation C2750405 16 Feb 2016 Disease Malignant secondary hypertension MONDO C0155617 MONDO:0001785 17 Apr 2020 Disease Malignant Sertoli cell tumor MONDO C0334406 MONDO:0000378 17 Apr 2020 Disease Malignant Sertoli-Leydig cell tumor MONDO MONDO:0000379 17 Apr 2020 Disease Malignant sex cord stromal tumor of ovary MONDO C1334609 MONDO:0018172 17 Apr 2020 Disease Malignant soft tissue neoplasm MONDO C4551686 MONDO:0024637 17 Apr 2020 Disease Malignant spindle cell neoplasm MONDO C0334230 MONDO:0020663 17 Apr 2020 Disease Malignant spiradenoma MONDO C1266063 MONDO:0004412 17 Apr 2020 Disease Malignant struma ovarii MONDO C0334525 MONDO:0003332 17 Apr 2020 Disease Malignant superior sulcus neoplasm MONDO C0549471 MONDO:0006883 17 Apr 2020 Disease Malignant syringoma MONDO C0346027 MONDO:0003519 17 Apr 2020 Disease Malignant tenosynovial giant cell tumor MONDO C1266168 MONDO:0002401 17 Apr 2020 Disease Malignant Teratocarcinosarcoma 16 Feb 2016 Disease Malignant teratoma MONDO C4722083 MONDO:0003514 17 Apr 2020 Disease Malignant teratoma of mediastinum MONDO C0349663 MONDO:0021283 17 Apr 2020 Disease Malignant teratoma of testis MONDO C1334154 MONDO:0021282 17 Apr 2020 Disease Malignant testicular germ cell tumor MONDO C0855197 MONDO:0003510 17 Apr 2020 Disease Malignant testicular Leydig cell tumor MONDO C1515288 MONDO:0003737 17 Apr 2020 Disease Malignant thyroid stimulating hormone producing neoplasm of pituitary gland MONDO C1334627 MONDO:0003836 17 Apr 2020 Disease Malignant triton tumor MONDO C0334616 MONDO:0016757 17 Apr 2020 Disease Malignant tumor of adrenal cortex MONDO MONDO:0021312 17 Apr 2020 Disease Malignant tumor of ascending colon NCBI curation C0153439 24 Aug 2018 Disease Malignant tumor of esophagus NCBI curation C0546837 133239 16 Feb 2016 Disease Malignant tumor of extrahepatic bile duct MONDO C0153453 MONDO:0021321 17 Apr 2020 Disease Malignant tumor of floor of mouth NCBI curation C0153368 02 Mar 2017 Disease Malignant tumor of meninges MONDO C0348375 MONDO:0021322 17 Apr 2020 Disease Malignant tumor of minor salivary gland MONDO C0345614 MONDO:0021316 17 Apr 2020 Disease Malignant tumor of nasopharynx MONDO MONDO:0021315 17 Apr 2020 Disease Malignant tumor of neck MONDO C0746787 MONDO:0021310 17 Apr 2020 Disease Malignant tumor of palpebral epidermis MONDO MONDO:0020175 17 Apr 2020 Disease Malignant tumor of parathyroid gland MONDO MONDO:0021311 17 Apr 2020 Disease Malignant tumor of prostate NCBI curation C0376358 176807 16 Feb 2016 Disease Malignant tumor of sigmoid colon NCBI curation C0153436 24 Aug 2018 Disease Malignant tumor of testis NCBI curation C0153594 273300 16 Feb 2016 Disease Malignant tumor of undescended testis MONDO C0153595 MONDO:0001480 17 Apr 2020 Disease Malignant tumor of unknown origin NCBI curation C0027667 16 Feb 2016 Disease Malignant tumor of ureter NCBI curation C0153619 191600 16 Feb 2016 Disease Malignant type A thymoma MONDO C0279707 MONDO:0004400 17 Apr 2020 Disease Malignant type AB thymoma MONDO C1266093 MONDO:0003976 17 Apr 2020 Disease Malignant urinary system neoplasm MONDO C0751571 MONDO:0006295 17 Apr 2020 Disease Malignant vaginal mixed epithelial and mesenchymal neoplasm MONDO C1512974 MONDO:0037746 17 Apr 2020 Disease Malignant visceral pleura tumor MONDO C0153496 MONDO:0001862 17 Apr 2020 Disease Mallet finger Human Phenotype Ontology C0158473 HP:0030771 02 Apr 2017 Finding Mallory-Weiss syndrome C0024633 16 Feb 2016 Disease Malnutrition Human Phenotype Ontology C0162429 HP:0004395 16 Feb 2016 Finding Malocclusion and short stature NCBI curation C1855453 248350 16 Feb 2016 Disease Malocclusion due to protuberant upper front teeth NCBI curation C1835159 154300 16 Feb 2016 Disease Malposition of external canthus MONDO CN258545 MONDO:0020167 17 Apr 2020 Disease Malposition of teeth with or without hypodontia/oligodontia NCBI curation C2752157 189490 16 Feb 2016 Disease Malposition of the coronary ostium MONDO CN261824 MONDO:0020426 17 Apr 2020 Disease Malposition of the stomach Human Phenotype Ontology C1402983 HP:0100802 16 Feb 2016 Finding Malpositions of #17, #32 CN236308 13 Apr 2016 Finding Malrotation of colon Human Phenotype Ontology C0266196 HP:0004785 16 Feb 2016 Finding Malrotation of small bowel Human Phenotype Ontology C1860244 HP:0004794 16 Feb 2016 Finding Malt worker's lung MONDO C0155888 MONDO:0002266 04 Jun 2020 Infectious disease Mammalian Susceptibility to Mycobacterial Disease CN181681 16 Feb 2016 Disease Mammary neoplasms, animal MONDO MONDO:0025483 17 Apr 2020 Disease Mammary Paget disease MONDO C0030185 MONDO:0002648 17 Apr 2020 Disease Mammary-digital-nail syndrome NCBI curation C3150946 613689 16 Feb 2016 Disease Mammastatin NCBI curation C3887696 154370 16 Feb 2016 Disease Mammographic density NCBI curation C1268717 607308 16 Feb 2016 Disease MAN1B1-CDG MONDO C4518783 MONDO:0018349 17 Apr 2020 Disease MAN1B1-Related Disorders 23 May 2019 Disease Mandibular aplasia Human Phenotype Ontology C0685776 HP:0009939 16 Feb 2016 Finding Mandibular arteriovenous malformation MONDO C3839452 MONDO:0015402 17 Apr 2020 Disease Mandibular cancer MONDO MONDO:0005837 17 Apr 2020 Disease Mandibular condyle aplasia Human Phenotype Ontology C0399570 HP:0007627 16 Feb 2016 Finding Mandibular condyle hypoplasia Human Phenotype Ontology C0399572 HP:0007628 16 Feb 2016 Finding mandibular enlargement 22 Oct 2019 Finding Mandibular hyperostosis Human Phenotype Ontology C4025321 HP:0004472 16 Feb 2016 Finding Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome NCBI curation C3715192 615381 16 Feb 2016 Disease Mandibular osteomyelitis Human Phenotype Ontology C1290708 HP:0007626 16 Feb 2016 Finding Mandibular pain Human Phenotype Ontology C4552061 HP:0200025 16 Feb 2016 Finding Mandibular prognathia Human Phenotype Ontology C0399526 HP:0000303 16 Feb 2016 Finding Mandibular prognathism C0266075 176700 16 Feb 2016 Disease Mandibular recession, 23 Jan 2020 Finding Mandibuloacral dysplasia NCBI curation C0432291 16 Feb 2016 Disease Mandibuloacral dysplasia and progeria syndrome NCBI curation CN221544 16 Feb 2016 Disease Mandibuloacral dysplasia with type A lipodystrophy NCBI curation CN031507 248370 02 Feb 2020 Disease Mandibuloacral dysplasia with type A lipodystrophy, atypical NCBI curation CN043412 16 Feb 2016 Disease Mandibuloacral dysplasia with type B lipodystrophy C1837756 608612 16 Feb 2016 Disease Mandibulofacial dysostosis CN004722 16 Feb 2016 Disease Mandibulofacial dysostosis syndrome, bauru type NCBI curation C1858101 604830 16 Feb 2016 Disease Mandibulofacial dysostosis with alopecia NCBI curation C4225349 616367 16 Feb 2016 Disease Mandibulofacial dysostosis with macroblepharon and macrostomia NCBI curation C1865181 602562 16 Feb 2016 Disease Mandibulofacial dysostosis with mental deficiency NCBI curation C4692584 248400 16 Feb 2016 Disease Mandibulofacial dysostosis with ptosis, autosomal dominant NCBI curation C1842349 608257 16 Feb 2016 Disease Mandibulofacial dysostosis-microcephaly syndrome MONDO C1864652 MONDO:0012516 610536 17 Apr 2020 Disease Manganese poisoning MONDO MONDO:0017638 17 Apr 2020 Disease Mania Human Phenotype Ontology C0564408 HP:0100754 16 Feb 2016 Finding Manic bipolar affective disorder MONDO MONDO:0024612 17 Apr 2020 Disease manifest conjugate horizontal jerk nystagmus CN231226 16 Feb 2016 Finding Mannose 6-phosphate receptor recognition defect, Lebanese type NCBI curation C1835134 154570 16 Feb 2016 Disease Mannose-binding protein deficiency NCBI curation C3280586 614372 16 Feb 2016 Disease Manouvrier syndrome 16 Feb 2016 Disease Mansonella ozzardi infection MONDO C0016089 MONDO:0020959 04 Jun 2020 Infectious disease Mansonelliasis C0024759 16 Feb 2016 Infectious disease Mantle cell lymphoma NCBI curation C0334634 16 Feb 2016 Disease Manz syndrome 16 Feb 2016 Disease Map-dot-fingerprint corneal dystrophy Human Phenotype Ontology C0271285 HP:0007690 16 Feb 2016 Finding MAP2K1-Related Disorder 30 Apr 2020 Disease MAP2K1-Related Disorders 23 May 2019 Disease MAP2K1-related RASopathy 21 May 2020 Disease MAP3K7-related disorder 21 Dec 2019 Disease MAPK8IP3-related disorder 13 Dec 2018 Finding Maple bark strippers' lung MONDO C0155890 MONDO:0004584 04 Jun 2020 Infectious disease Maple syrup urine disease OMIM phenotypic series C0024776 PS248600 248600 16 Feb 2016 Disease Maple syrup urine disease Orphanet C0024776 ORPHA511 248600 16 Feb 2016 Disease Maple syrup urine disease type 1A NCBI curation C2930989 16 Feb 2016 Disease Maple syrup urine disease type 1B C2930990 16 Feb 2016 Disease Maple syrup urine disease type 2 C1855371 16 Feb 2016 Disease MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB C4016442 16 Feb 2016 Disease MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA C4017152 16 Feb 2016 Disease Maple syrup urine disease, mild variant NCBI curation C3554575 615135 16 Feb 2016 Disease Maple syrup urine disease, thiamine-responsive, type II NCBI curation C4016440 26 May 2016 Disease Maple syrup urine disease, type 3 NCBI curation CN043137 246900 16 Feb 2016 Disease MAPT-Related Spectrum Disorders CN239327 02 Dec 2016 Disease Marantic endocarditis MONDO MONDO:0000610 17 Apr 2020 Disease Marasmus MONDO C0086588 MONDO:0006848 17 Apr 2020 Disease Maraviroc response NCBI curation CN077994 16 Feb 2016 Pharmacological response Marburg acute multiple sclerosis MONDO C4707723 MONDO:0016429 17 Apr 2020 Disease Marburg virus disease C0024788 16 Feb 2016 Infectious disease Marchiafava-Bignami disease MONDO C0238265 MONDO:0016370 22 Apr 2020 Disease Marchiafava-Micheli disease 16 Feb 2016 Disease Marcothrombocytopenia with mitral valve insufficiency MONDO C4749648 MONDO:0016360 17 Apr 2020 Disease Marcus Gunn jaw winking synkinesis Human Phenotype Ontology CN241271 HP:0025186 02 Apr 2017 Finding Marcus Gunn pupil Human Phenotype Ontology C0549122 HP:0200057 16 Feb 2016 Finding Marden-Walker syndrome C0796033 248700 16 Feb 2016 Disease Marfan and Marfan-related disorder MONDO CN227112 MONDO:0017310 17 Apr 2020 Disease Marfan lipodystrophy syndrome NCBI curation C4310796 616914 07 Jan 2018 Disease Marfan syndrome NCBI curation C0024796 154700 16 Feb 2016 Disease Marfan Syndrome type 2 C2931058 16 Feb 2016 Disease Marfan Syndrome type 3 CN035813 16 Feb 2016 Disease Marfan Syndrome type 4 16 Feb 2016 Disease Marfan Syndrome type 5 16 Feb 2016 Disease Marfan syndrome, atypical NCBI curation C4016055 16 Feb 2016 Disease Marfan syndrome, autosomal recessive NCBI curation C4016059 16 Feb 2016 Disease Marfan syndrome, incomplete CN221598 16 Feb 2016 Disease Marfan syndrome, mild NCBI curation C4016056 16 Feb 2016 Disease Marfan syndrome, mild variable NCBI curation C4016053 16 Feb 2016 Disease Marfan syndrome, neonatal NCBI curation C4016054 16 Feb 2016 Disease Marfan syndrome, severe classic NCBI curation C4016052 16 Feb 2016 Disease Marfan syndrome, subdiagnostic variant of NCBI curation 16 Feb 2016 Disease Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections CN229799 16 Feb 2016 Disease Marfan-Like syndrome 16 Feb 2016 Disease Marfan-like syndrome, Boileau type 16 Feb 2016 Disease Marfanoid habitus CN225657 16 Feb 2016 Finding Marfanoid habitus and intellectual disability NCBI curation CN263130 18 Sep 2019 Disease Marfanoid habitus with microcephaly and glomerulonephritis NCBI curation C1855348 248760 16 Feb 2016 Disease Marfanoid habitus with situs inversus NCBI curation C1836994 609008 16 Feb 2016 Disease Marfanoid habitus-inguinal hernia-advanced bone age syndrome MONDO C5190606 MONDO:0017793 17 Apr 2020 Disease Marfanoid hypermobility 16 Feb 2016 Disease Marfanoid joint hypermobility syndrome C0268365 154750 16 Feb 2016 Disease Marfanoid mental retardation syndrome, autosomal NCBI curation C1855347 248770 16 Feb 2016 Disease Marginal corneal dystrophy Human Phenotype Ontology C4024779 HP:0007880 16 Feb 2016 Finding Marginal corneal ulcer MONDO C0155067 MONDO:0001034 17 Apr 2020 Disease Marginal glioneuronal heterotopia 16 Feb 2016 Disease Marginal papular palmoplantar keratoderma MONDO CN227175 MONDO:0017676 17 Apr 2020 Disease Marginal umbilical cord insertion Human Phenotype Ontology C0266788 HP:0030658 02 Apr 2017 Finding Marginal zone lymphoma MONDO C1367654 MONDO:0017604 17 Apr 2020 Disease Marie type ataxia 16 Feb 2016 Disease Marin-Amat syndrome MONDO CN197448 MONDO:0015101 17 Apr 2020 Disease Marinesco-Sjogren-like syndrome MONDO C0796036 MONDO:0023696 17 Apr 2020 Disease Marinesco-Sjogren-like syndrome (MSLS) 16 Feb 2016 Disease Marinesco-Sjögren syndrome NCBI curation C0024814 248800 16 Feb 2016 Disease Marked delay in bone age Human Phenotype Ontology C1868549 HP:0003799 16 Feb 2016 Finding Marked delay in eruption of permanent teeth Human Phenotype Ontology C1863009 HP:0006291 16 Feb 2016 Finding Marked Hypotonia CN228301 16 Feb 2016 Finding Marked muscular hypertrophy Human Phenotype Ontology C1846013 HP:0009042 16 Feb 2016 Finding Markedly reduced T cell function C1834098 16 Feb 2016 Finding Markel Vikkula Mulliken syndrome 16 Feb 2016 Disease Marmorata 15 Mar 2018 Finding Maroteaux Fonfria syndrome C2931088 16 Feb 2016 Disease Maroteaux Stanescu Cousin syndrome 16 Feb 2016 Disease Maroteaux Verloes Stanescu syndrome 16 Feb 2016 Disease Marphanoid syndrome type De Silva 16 Feb 2016 Disease MARS-Related Disorder 11 Oct 2018 Disease Marsden Nyhan Sakati syndrome 16 Feb 2016 Disease Marshall syndrome C0265235 154780 16 Feb 2016 Disease Marshall-Smith syndrome C0265211 602535 16 Feb 2016 Disease Marshall/Stickler syndrome NCBI curation C4015965 12 May 2017 Disease Martinez Monasterio Pinheiro syndrome C2931089 16 Feb 2016 Disease Martinez-Frias syndrome MONDO C1832443 MONDO:0011042 601346 09 Jun 2020 Disease MASA syndrome MONDO C0795953 MONDO:0010559 303350 22 Apr 2020 Disease Mask-like facies Human Phenotype Ontology C0424448 HP:0000298 16 Feb 2016 Finding MASP2 deficiency NCBI curation C3151085 613791 16 Feb 2016 Disease MASS syndrome C1858556 604308 16 Feb 2016 Disease Massa Casaer Ceulemans syndrome C2931090 16 Feb 2016 Disease massive histiocytic infiltration in liver, spleen, bone marrow, lymph nodes, thymus, parotid gland and adrenal medulla 13 Feb 2020 Finding Massive neonatal aspiration syndrome MONDO MONDO:0024262 17 Apr 2020 Disease Massive splenomegaly 19 Sep 2017 Finding Massively thickened long bone cortices Human Phenotype Ontology C4025160 HP:0005665 16 Feb 2016 Finding Mast cell activation syndrome MONDO MONDO:0100004 17 Apr 2020 Disease Mast cell disease, systemic NCBI curation C0221013 16 Feb 2016 Disease Mast cell leukemia NCBI curation C0023461 16 Feb 2016 Disease MAST CELL LEUKEMIA, SOMATIC 27 Jun 2018 Disease Mast cell neoplasm MONDO C0334664 MONDO:0002724 17 Apr 2020 Disease Mast cell sarcoma MONDO C0036221 MONDO:0019024 17 Apr 2020 Disease Mast syndrome NCBI curation C1855346 248900 16 Feb 2016 Disease Masticatory muscles, hypertrophy of NCBI curation C1835093 154850 16 Feb 2016 Disease Mastitis MONDO C0024894 MONDO:0006849 17 Apr 2020 Disease Mastocytic enterocolitis 16 Feb 2016 Disease Mastocytosis Human Phenotype Ontology C0024899 HP:0100495 154800 16 Feb 2016 Disease Mastocytosis with associated hematologic disorder NCBI curation 16 Feb 2016 Disease MASTOCYTOSIS WITH ASSOCIATED HEMATOLOGIC DISORDER, SOMATIC 27 Jun 2018 Disease MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC 14 Jul 2018 Disease MASTOCYTOSIS, INDOLENT CN248530 27 Jun 2018 Disease Mastocytosis, sporadic, childhood-onset NCBI curation 16 Feb 2016 Disease MASTOCYTOSIS, SYSTEMIC, SOMATIC 27 Jun 2018 Disease Mastoiditis Human Phenotype Ontology C0024904 HP:0000265 16 Feb 2016 Finding Mastroiacovo De Rosa Satta syndrome 16 Feb 2016 Disease Mastroiacovo Gambi Segni syndrome 16 Feb 2016 Disease Maternal 14q32.2 hypermethylation syndrome MONDO CN202039 MONDO:0016783 17 Apr 2020 Disease Maternal 14q32.2 microdeletion syndrome MONDO CN202037 MONDO:0016781 17 Apr 2020 Disease Maternal anticardiolipin antibody positive Human Phenotype Ontology C4022860 HP:0012536 16 Feb 2016 Finding Maternal autoimmune disease Human Phenotype Ontology C4023358 HP:0011437 16 Feb 2016 Finding Maternal care for suspected chromosomal abnormality in fetus NCBI curation C0495229 16 Feb 2016 Disease Maternal disease-related embryofetopathy MONDO CN201921 MONDO:0016678 17 Apr 2020 Disease Maternal fever in pregnancy Human Phenotype Ontology C4021041 HP:0030244 16 Feb 2016 Finding Maternal first trimester fever Human Phenotype Ontology C4022561 HP:0030246 16 Feb 2016 Finding Maternal hyperphenylalaninemia Human Phenotype Ontology C4022014 HP:0100610 16 Feb 2016 Finding Maternal hypertension Human Phenotype Ontology C0565599 HP:0008071 16 Feb 2016 Finding Maternal hyperthermia induced birth defects MONDO CN201270 MONDO:0016378 17 Apr 2020 Disease Maternal phenylketonuria C0085547 16 Feb 2016 Disease Maternal riboflavin deficiency MONDO C0035528 MONDO:0014013 615026 17 Apr 2020 Disease Maternal seizures Human Phenotype Ontology C4022010 HP:0100622 16 Feb 2016 Finding Maternal teratogenic exposure Human Phenotype Ontology C4023357 HP:0011438 16 Feb 2016 Finding Maternal thrombophilia Human Phenotype Ontology C4280721 HP:0040222 02 Apr 2017 Finding Maternal uniparental disomy of chromosome 1 MONDO C4749302 MONDO:0016651 17 Apr 2020 Disease Maternal uniparental disomy of chromosome 13 MONDO CN036719 MONDO:0019994 17 Apr 2020 Disease Maternal uniparental disomy of chromosome 14 MONDO CN227718 MONDO:0019915 17 Apr 2020 Disease Maternal uniparental disomy of chromosome 16 MONDO C4750769 MONDO:0019916 17 Apr 2020 Disease Maternal uniparental disomy of chromosome 2 MONDO C4707718 MONDO:0019910 17 Apr 2020 Disease Maternal uniparental disomy of chromosome 21 MONDO C5190523 MONDO:0019918 17 Apr 2020 Disease Maternal uniparental disomy of chromosome 22 MONDO C5190524 MONDO:0019919 17 Apr 2020 Disease Maternal uniparental disomy of chromosome 4 MONDO C4707719 MONDO:0019911 17 Apr 2020 Disease Maternal uniparental disomy of chromosome 6 MONDO C4707720 MONDO:0019912 17 Apr 2020 Disease Maternal uniparental disomy of chromosome 9 MONDO C4707721 MONDO:0019914 17 Apr 2020 Disease Maternal uniparental disomy of chromosome X MONDO C5191056 MONDO:0016851 17 Apr 2020 Disease maternal use of alcohol 05 Sep 2019 Finding Maternal virilization in pregnancy Human Phenotype Ontology C4024735 HP:0008072 16 Feb 2016 Finding Maternally-inherited cardiomyopathy and hearing loss MONDO CN199218 MONDO:0015283 17 Apr 2020 Disease Maternally-inherited Leigh syndrome MONDO C2931092 MONDO:0016814 22 Apr 2020 Disease Maternally-inherited mitochondrial myopathy MONDO CN229061 MONDO:0016794 17 Apr 2020 Disease Maternally-inherited progressive external ophthalmoplegia Orphanet CN924917 ORPHA663 08 Apr 2018 Disease Maternally-inherited spastic paraplegia MONDO C4755299 MONDO:0017917 17 Apr 2020 Disease math disorder 05 Sep 2019 Finding Mathieu De Broca Bony syndrome 16 Feb 2016 Disease MATR3-Related Disorder 13 Oct 2017 Disease Matsoukas Liarikos Giannika syndrome 16 Feb 2016 Disease Matthew-Wood syndrome CN235159 16 Feb 2016 Finding Mature cataract MONDO MONDO:0001782 17 Apr 2020 Disease Mature gastric teratoma MONDO C1334635 MONDO:0004467 17 Apr 2020 Disease Mature ovarian teratoma MONDO C1334637 MONDO:0003820 17 Apr 2020 Disease Mature pericardial teratoma MONDO C1334638 MONDO:0004432 17 Apr 2020 Disease Mature T-cell and NK-cell non-Hodgkin lymphoma MONDO MONDO:0000430 17 Apr 2020 Disease Mature teratoma MONDO C1368910 MONDO:0003517 17 Apr 2020 Disease Maturity onset diabetes mellitus in young C0342276 606391 16 Feb 2016 Disease Maturity-onset diabetes of the young type 4 MONDO C1833382 MONDO:0011667 606392 22 Apr 2020 Disease Maturity-onset diabetes of the young type 6 MONDO C1853371 MONDO:0011668 606394 22 Apr 2020 Disease Maturity-onset diabetes of the young type 7 MONDO C1864839 MONDO:0012513 610508 22 Apr 2020 Disease Maturity-onset diabetes of the young type 8 MONDO C1853297 MONDO:0012348 609812 22 Apr 2020 Disease Maturity-onset diabetes of the young type 9 MONDO C2677132 MONDO:0012818 612225 22 Apr 2020 Disease Maturity-onset diabetes of the young, MODY 07 Nov 2018 Finding Maturity-onset diabetes of the young, type 1 NCBI curation C1852093 125850 31 Dec 2019 Disease Maturity-onset diabetes of the young, type 10 NCBI curation C3150617 613370 16 Feb 2016 Disease Maturity-onset diabetes of the young, type 11 NCBI curation C3150618 613375 16 Feb 2016 Disease Maturity-onset diabetes of the young, type 13 NCBI curation C4225365 616329 16 Feb 2016 Disease Maturity-onset diabetes of the young, type 14 NCBI curation C4225299 616511 16 Feb 2016 Disease Maturity-onset diabetes of the young, type 2 NCBI curation C1841962 125851 31 Dec 2019 Disease Maturity-onset diabetes of the young, type 3 NCBI curation C1838100 600496 13 Dec 2018 Disease Maumenee syndrome 16 Feb 2016 Disease Mauriac syndrome NCBI curation C0221005 22 Jul 2016 Disease Maxillary arteriovenous malformation MONDO C3839810 MONDO:0015401 17 Apr 2020 Disease Maxillary double lip 16 Feb 2016 Disease Maxillary lateral incisor microdontia Human Phenotype Ontology C1845111 HP:0001593 16 Feb 2016 Finding Maxillary neoplasm MONDO C0024954 MONDO:0005841 17 Apr 2020 Disease Maxillary sinus adenocarcinoma MONDO C1334642 MONDO:0004328 17 Apr 2020 Disease Maxillary sinus adenoid cystic carcinoma MONDO C1334643 MONDO:0006297 17 Apr 2020 Disease Maxillary sinus carcinoma MONDO C0740487 MONDO:0001748 17 Apr 2020 Disease Maxillary sinus cholesteatoma MONDO C1334644 MONDO:0006577 17 Apr 2020 Disease Maxillary sinus inverted papilloma MONDO C1334645 MONDO:0004384 17 Apr 2020 Disease Maxillary sinus neoplasm MONDO C0024958 MONDO:0006850 17 Apr 2020 Disease Maxillary sinus Schneiderian papilloma MONDO C1334646 MONDO:0004457 17 Apr 2020 Disease Maxillary sinus squamous cell carcinoma MONDO C1334647 MONDO:0004394 17 Apr 2020 Disease Maxillary sinusitis MONDO C0024959 MONDO:0005842 17 Apr 2020 Disease Maxillofacial dysostosis C1835088 155000 16 Feb 2016 Disease Maxillozygomatic hypoplasia Human Phenotype Ontology C1848908 HP:0005439 16 Feb 2016 Finding May-Hegglin Disorder 15 Jun 2020 Disease May-Thurner syndrome MONDO C3165062 MONDO:0043361 17 Apr 2020 Disease Mayer-Rokitansky-Küster-Hauser syndrome type 2 MONDO C1832817 MONDO:0010989 601076 17 Apr 2020 Disease Mazabraud syndrome MONDO C3697137 MONDO:0018933 17 Apr 2020 Disease MBD5 associated neurodevelopmental disorder CN241843 07 Apr 2017 Disease MCAD deficiency, modifier of NCBI curation 16 Feb 2016 Disease McAlister Crane syndrome 16 Feb 2016 Disease MCAP CN233168 16 Feb 2016 Finding McArdle disease, mild NCBI curation C4017156 16 Feb 2016 Disease McCallum Macadam Johnston syndrome 16 Feb 2016 Disease McCune-Albright syndrome NCBI curation C0242292 174800 16 Feb 2016 Disease McDonough syndrome C0796038 248950 16 Feb 2016 Disease McDowall syndrome 16 Feb 2016 Disease McGillivray syndrome 16 Feb 2016 Disease McKusick-Kaufman syndrome MONDO C0948368 MONDO:0009367 236700 22 Apr 2020 Disease McLain Debakian syndrome 16 Feb 2016 Disease McLeod neuroacanthocytosis syndrome C0398568 300842 16 Feb 2016 Disease McLeod syndrome with chronic granulomatous disease NCBI curation 16 Feb 2016 Disease MCOPCT1 OMIM C1834919 156850 156850 17 Apr 2020 Disease MCOPCT1 MONDO C1834919 MONDO:0007995 156850 17 Apr 2020 Disease McPherson Clemens syndrome 16 Feb 2016 Disease McPherson Robertson Cammarano syndrome C2931751 16 Feb 2016 Disease MDR1 POLYMORPHISM 16 Feb 2016 Disease Meacham syndrome NCBI curation C1837026 608978 16 Feb 2016 Disease Meacham Winn Culler syndrome 16 Feb 2016 Disease Meadows syndrome 16 Feb 2016 Disease Mean platelet volume quantitative trait locus 1 NCBI curation C2675495 612573 16 Feb 2016 Disease Mean platelet volume quantitative trait locus 2 NCBI curation C2675494 612574 16 Feb 2016 Disease Mean platelet volume quantitative trait locus 3 NCBI curation C2675493 612575 16 Feb 2016 Disease Mean platelet volume quantitative trait locus 4 NCBI curation C3553339 614644 16 Feb 2016 Disease Mean platelet volume quantitative trait locus 5 NCBI curation C3553340 614645 16 Feb 2016 Disease Mean platelet volume quantitative trait locus 6 NCBI curation C3553341 614646 16 Feb 2016 Disease Measles C0025007 16 Feb 2016 Infectious disease Mechanical ectropion MONDO C0155194 MONDO:0002042 17 Apr 2020 Disease Mechanical entropion MONDO C0155189 MONDO:0001636 17 Apr 2020 Disease Mechanical ileus Human Phenotype Ontology C0400843 HP:0010676 16 Feb 2016 Finding Mechanical lagophthalmos MONDO C0155198 MONDO:0001622 17 Apr 2020 Disease Mechanical strabismus MONDO C0152223 MONDO:0004753 17 Apr 2020 Disease Meckel diverticulitis MONDO C0267497 MONDO:0004551 17 Apr 2020 Disease Meckel diverticulum Human Phenotype Ontology C0025037 HP:0002245 155140 16 Feb 2016 Disease Meckel diverticulum cancer MONDO C0153429 MONDO:0000954 17 Apr 2020 Disease Meckel diverticulum neoplasm MONDO C0345839 MONDO:0021082 17 Apr 2020 Disease Meckel syndrome 10 CN260074 19 Jun 2019 Disease Meckel syndrome 12 NCBI curation C4015701 616258 16 Feb 2016 Disease Meckel syndrome 13 NCBI curation C4539714 617562 29 Aug 2017 Disease Meckel syndrome 2 CN260101 20 Jun 2019 Disease Meckel syndrome 5 CN260102 20 Jun 2019 Disease Meckel syndrome 7 CN260103 20 Jun 2019 Disease Meckel syndrome 9 CN260104 20 Jun 2019 Disease Meckel syndrome type 1 NCBI curation C3714506 249000 16 Feb 2016 Disease Meckel syndrome type 6 NCBI curation C2676790 612284 16 Feb 2016 Disease Meckel syndrome type 7 NCBI curation C2673885 267010 16 Feb 2016 Disease Meckel syndrome type 8 NCBI curation C3836857 613885 16 Feb 2016 Disease Meckel syndrome, type 10 NCBI curation C3280036 614175 16 Feb 2016 Disease Meckel syndrome, type 11 NCBI curation C3809352 615397 16 Feb 2016 Disease Meckel syndrome, type 2 MONDO C1864148 MONDO:0011296 603194 22 Apr 2020 Disease Meckel syndrome, type 3 MONDO C1846357 MONDO:0011821 607361 22 Apr 2020 Disease Meckel syndrome, type 4 MONDO C1970161 MONDO:0012626 611134 09 May 2020 Disease Meckel syndrome, type 5 MONDO C1969052 MONDO:0012695 611561 09 May 2020 Disease Meckel syndrome, type 6, modifier of NCBI curation 16 Feb 2016 Disease Meckel syndrome, type 9 NCBI curation C3280155 614209 16 Feb 2016 Disease Meckel-Gruber syndrome NCBI curation C0265215 26 Dec 2016 Disease Meckel-like cerebrorenodigital syndrome NCBI curation 16 Feb 2016 Disease Meclizine Response CN282562 17 Jun 2020 Pharmacological response Meconium aspiration syndrome C0025048 16 Feb 2016 Disease Meconium ileus Human Phenotype Ontology C2939175 HP:0004401 614665 16 Feb 2016 Disease Meconium ileus in cystic fibrosis, susceptibility to NCBI curation 16 Feb 2016 Disease Meconium peritonitis Human Phenotype Ontology C0270250 HP:0030717 02 Apr 2017 Finding meconium plug 05 Sep 2019 Disease Meconium stained amniotic fluid Human Phenotype Ontology C0426209 HP:0012420 16 Feb 2016 Finding MECP2-Related Angelman-like Syndrome CN235511 15 Mar 2016 Disease MED12-related intellectual disability syndrome MONDO MONDO:0100000 17 Apr 2020 Disease MED13-related neurodevelopmental disorder 21 May 2020 Disease MED13L-related neurodevelopmental disorder 21 May 2020 Disease Medeira Dennis Donnai syndrome 16 Feb 2016 Disease Medial arterial calcification Human Phenotype Ontology C4022896 HP:0012456 16 Feb 2016 Finding Medial calcification of large arteries Human Phenotype Ontology C4025265 HP:0004966 16 Feb 2016 Finding Medial calcification of medium-sized arteries Human Phenotype Ontology C4022895 HP:0012457 16 Feb 2016 Finding Medial calcification of small arteries Human Phenotype Ontology C4022894 HP:0012458 16 Feb 2016 Finding Medial condensing osteitis of the clavicle MONDO CN230280 MONDO:0018929 17 Apr 2020 Disease Medial deviation of the foot Human Phenotype Ontology C2673401 HP:0008082 16 Feb 2016 Finding Medial flaring of the eyebrow Human Phenotype Ontology C1844562 HP:0010747 16 Feb 2016 Finding Medial Medullary Syndrome 16 Feb 2016 Disease medial pointed notch 22 Aug 2019 Finding Medial rotation of the medial malleolus Human Phenotype Ontology C3805726 HP:0008132 16 Feb 2016 Finding medial tongue groove 22 Aug 2019 Finding Medial widening of clavicles Human Phenotype Ontology C1866729 HP:0006599 16 Feb 2016 Finding Medially deficient radial epiphyses Human Phenotype Ontology C4025456 HP:0004001 16 Feb 2016 Finding Medially deviated second toe Human Phenotype Ontology C1862147 HP:0008096 16 Feb 2016 Finding Medially flattened radial epiphyses Human Phenotype Ontology C4025454 HP:0004003 16 Feb 2016 Finding Medially fused radial epiphyseal plates Human Phenotype Ontology C4025445 HP:0004013 16 Feb 2016 Finding Medially sloping radial epiphyses Human Phenotype Ontology C4025448 HP:0004009 16 Feb 2016 Finding Medially sloping radial metaphysis Human Phenotype Ontology C4025436 HP:0004024 16 Feb 2016 Finding Median cleft lip Human Phenotype Ontology C1850256 HP:0000161 16 Feb 2016 Finding Median cleft lip and palate Human Phenotype Ontology C2750604 HP:0008501 16 Feb 2016 Finding Median cleft lip/mandibule MONDO C4518460 MONDO:0016062 17 Apr 2020 Disease Median cleft of the upper lip and maxilla MONDO CN199508 MONDO:0015413 17 Apr 2020 Disease Median cleft palate Human Phenotype Ontology C1850968 HP:0009099 16 Feb 2016 Finding Median nerve neuropathy MONDO MONDO:0003598 17 Apr 2020 Disease Median nodule of the upper lip 16 Feb 2016 Disease Median rhomboid glossitis MONDO MONDO:0001880 17 Apr 2020 Disease Median-ulnar nerve communications NCBI curation C1835086 155150 16 Feb 2016 Disease Mediastinal cancer MONDO MONDO:0005843 17 Apr 2020 Disease Mediastinal cystic lymphangioma Human Phenotype Ontology C4280770 HP:0030785 02 Apr 2017 Finding Mediastinal disease MONDO C0025061 MONDO:0043707 17 Apr 2020 Disease Mediastinal endodermal sinus tumors 16 Feb 2016 Disease Mediastinal extraskeletal osteosarcoma MONDO C1334675 MONDO:0003808 17 Apr 2020 Disease Mediastinal germ cell tumor NCBI curation C1334655 16 Feb 2016 Disease Mediastinal granular cell myoblastoma MONDO C1334656 MONDO:0003255 17 Apr 2020 Disease Mediastinal gray zone lymphoma MONDO C1334657 MONDO:0004020 17 Apr 2020 Disease Mediastinal lipomatosis MONDO C1334662 MONDO:0006578 17 Apr 2020 Disease Mediastinal lymphadenopathy Human Phenotype Ontology C0520743 HP:0100721 16 Feb 2016 Finding Mediastinal malignant germ cell tumor MONDO C1334597 MONDO:0006298 17 Apr 2020 Disease Mediastinal malignant lymphoma MONDO C1334665 MONDO:0004021 17 Apr 2020 Disease Mediastinal melanocytic neurilemmoma MONDO C1334668 MONDO:0003894 17 Apr 2020 Disease Mediastinal mesenchymal tumor MONDO C1334669 MONDO:0003512 17 Apr 2020 Disease Mediastinal neural neoplasm MONDO C1334672 MONDO:0003098 17 Apr 2020 Disease Mediastinal schwannoma MONDO C1334679 MONDO:0004398 17 Apr 2020 Disease Mediastinal soft tissue cancer MONDO C1334599 MONDO:0037743 17 Apr 2020 Disease Mediastinal teratoma Human Phenotype Ontology C1334682 HP:0030741 02 Apr 2017 Finding Mediastinal yolk sac tumor MONDO C1334683 MONDO:0023726 17 Apr 2020 Disease Mediastinitis MONDO C0025064 MONDO:0004492 17 Apr 2020 Disease Mediastinum angiosarcoma MONDO C1334649 MONDO:0003034 17 Apr 2020 Disease Mediastinum ganglioneuroblastoma MONDO C1334653 MONDO:0001096 17 Apr 2020 Disease Mediastinum leiomyoma MONDO C1334659 MONDO:0003284 17 Apr 2020 Disease Mediastinum leiomyosarcoma MONDO C1334660 MONDO:0003376 17 Apr 2020 Disease Mediastinum liposarcoma MONDO C1334663 MONDO:0003601 17 Apr 2020 Disease Mediastinum neuroblastoma MONDO C1334673 MONDO:0001095 17 Apr 2020 Disease Mediastinum neurofibroma MONDO C1334674 MONDO:0001426 17 Apr 2020 Disease Mediastinum rhabdomyosarcoma MONDO C1334677 MONDO:0002851 17 Apr 2020 Disease Mediastinum sarcoma MONDO C1334678 MONDO:0002852 17 Apr 2020 Disease Mediastinum seminoma MONDO C1334680 MONDO:0003826 17 Apr 2020 Disease Mediastinum synovial sarcoma MONDO C1334681 MONDO:0003467 17 Apr 2020 Disease Medically refractory epilepsy 23 Jan 2020 Finding Medically refractory epileptic encephalopathy 23 Jan 2020 Finding Medich giant platelet syndrome MONDO C4305375 MONDO:0018268 17 Apr 2020 Disease Medionecrosis of aorta NCBI curation 16 Feb 2016 Disease Mediosternal depigmentation line NCBI curation C1835085 155200 16 Feb 2016 Disease Mediosternal, longitudinal streak of hypopigmentation Human Phenotype Ontology C4024840 HP:0007581 16 Feb 2016 Finding Medium chain dicarboxylic aciduria Human Phenotype Ontology C1860081 HP:0008309 16 Feb 2016 Finding Medium-chain 3-ketoacyl-CoA thiolase deficiency NCBI curation C1865781 602199 16 Feb 2016 Disease Medium-chain acyl-coenzyme A dehydrogenase deficiency NCBI curation C0220710 201450 16 Feb 2016 Disease Medium/large size posterior uveal melanoma MONDO C0278868 MONDO:0024864 17 Apr 2020 Disease MEDNIK Syndrome CN229776 16 Feb 2016 Disease Medrano Roldan syndrome 16 Feb 2016 Disease Medullary breast carcinoma MONDO C0860580 MONDO:0005063 17 Apr 2020 Disease Medullary cystic kidney disease 1 C1868139 174000 16 Feb 2016 Disease Medullary cysts 20 Jun 2019 Finding Medullary nephrocalcinosis Human Phenotype Ontology C0403477 HP:0012408 16 Feb 2016 Finding Medullary sponge kidney C0022681 16 Feb 2016 Disease Medullary thyroid carcinoma Human Phenotype Ontology C0238462 HP:0002865 16 Feb 2016 Disease Medulloadrenal hyperfunction MONDO C0154206 MONDO:0001473 17 Apr 2020 Disease Medulloblastoma Human Phenotype Ontology C0025149 HP:0002885 155255 16 Feb 2016 Disease Medulloblastoma with extensive nodularity NCBI curation C1334970 16 Feb 2016 Disease Medulloblastoma, desmoplastic NCBI curation C0751291 16 Feb 2016 Disease Medulloepithelioma Human Phenotype Ontology C0334596 HP:0030071 16 Feb 2016 Finding Medullomyoblastoma with myogenic differentiation MONDO C0205833 MONDO:0006300 17 Apr 2020 Disease Meesmann corneal dystrophy NCBI curation C0339277 08 Feb 2020 Disease Meesmann corneal dystrophy 1 NCBI curation C5231499 122100 21 Feb 2020 Disease Meesmann corneal dystrophy 2 NCBI curation C5231495 618767 22 Feb 2020 Disease Meester-loeys syndrome NCBI curation C4310811 300989 20 Jun 2017 Disease MEF2C-related complex neurodevelopmental disorder 21 May 2020 Disease MEF2C-Related Disorder 13 Oct 2017 Disease MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS OMIM C4748927 618273 618273 12 Jan 2019 Disease MEGABLADDER, CONGENITAL OMIM C5231472 618719 618719 25 Dec 2019 Disease Megaconial type congenital muscular dystrophy MONDO C1865233 MONDO:0011246 602541 22 Apr 2020 Disease Megacystic-microcolon-hyperperistalsis syndrome 19 Jul 2018 Finding Megacystis Human Phenotype Ontology C1855311 HP:0000021 16 Feb 2016 Finding Megacystis-megaureter syndrome MONDO C0431752 MONDO:0016548 17 Apr 2020 Disease Megaduodenum Human Phenotype Ontology C0266177 HP:0030996 04 Apr 2018 Finding Megaepiphyseal dwarfism C1855310 249230 16 Feb 2016 Disease Megaesophagus MONDO C0025164 MONDO:0001656 17 Apr 2020 Disease Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) MONDO C4706584 MONDO:0018436 17 Apr 2020 Disease Megakaryocyte nucleus hyperlobulation Human Phenotype Ontology C4531159 HP:0031388 04 Apr 2018 Finding Megakaryocyte nucleus hypolobulation Human Phenotype Ontology C4531162 HP:0031385 04 Apr 2018 Finding Megakaryocytes, unilobular nucleated NCBI curation 16 Feb 2016 Disease Megakaryocytopenia Human Phenotype Ontology C1858312 HP:0005548 16 Feb 2016 Finding Megalencephalic leukoencephalopathy with subcortical cysts NCBI curation C1858854 16 Feb 2016 Disease Megalencephalic leukoencephalopathy with subcortical cysts 1 NCBI curation CN034246 604004 16 Feb 2016 Disease Megalencephalic leukoencephalopathy with subcortical cysts 2a NCBI curation C3151355 613925 16 Feb 2016 Disease Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with mental retardation NCBI curation C4017257 26 May 2016 Disease Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation NCBI curation C3151356 613926 16 Feb 2016 Disease Megalencephaly Human Phenotype Ontology C3805727 HP:0001355 155350 16 Feb 2016 Disease Megalencephaly with dysmyelination NCBI curation C1855309 249240 16 Feb 2016 Disease Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability NCBI curation CN228136 16 Feb 2016 Disease Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome 16 Feb 2016 Disease Megalencephaly-capillary malformation-polymicrogyria syndrome MONDO C1865285 MONDO:0011240 602501 22 Apr 2020 Disease Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 NCBI curation C4012727 603387 24 Aug 2016 Disease Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 NCBI curation C4014738 615937 16 Feb 2016 Disease Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 NCBI curation C4014742 615938 16 Feb 2016 Disease Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome, Somatic CN229784 16 Feb 2016 Disease Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome Orphanet C4302893 ORPHA83473 11 Jan 2020 Disease Megaloblastic anemia Human Phenotype Ontology C0002888 HP:0001889 16 Feb 2016 Finding Megaloblastic anemia 1, Finnish type NCBI curation C4016819 16 Feb 2016 Disease Megaloblastic anemia 1, Norwegian type NCBI curation C4016948 16 Feb 2016 Disease Megaloblastic anemia due to dihydrofolate reductase deficiency NCBI curation C3151205 613839 16 Feb 2016 Disease Megaloblastic anemia due to inborn errors of metabolism NCBI curation C4551825 16 Feb 2016 Disease Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness C0342287 249270 16 Feb 2016 Disease Megaloblastic bone marrow Human Phenotype Ontology C0238801 HP:0001980 16 Feb 2016 Finding Megaloblastic erythroid hyperplasia Human Phenotype Ontology C1334688 HP:0200143 16 Feb 2016 Finding Megalocornea Human Phenotype Ontology C0344530 HP:0000485 249300 16 Feb 2016 Disease Megalocornea Human Phenotype Ontology C0344530 HP:0000485 309300 16 Feb 2016 Disease Megalocornea-intellectual disability syndrome MONDO C0796086 MONDO:0009577 249310 17 Apr 2020 Disease Megalocytic interstitial nephritis 16 Feb 2016 Disease Megarbane syndrome C1847871 606527 16 Feb 2016 Disease Megarbane-Jalkh syndrome MONDO C2748555 MONDO:0013009 612785 22 Apr 2020 Disease Megarectum Human Phenotype Ontology C1456333 HP:0025024 02 Apr 2017 Finding Mehes syndrome 16 Feb 2016 Disease MEHMO syndrome NCBI curation C1846278 300148 20 Jan 2018 Disease Mehta Lewis Patton syndrome C2931120 16 Feb 2016 Disease Meier Blumberg Imahorn syndrome 16 Feb 2016 Disease Meier Rotschild syndrome 16 Feb 2016 Disease Meier-Gorlin syndrome OMIM phenotypic series C1868684 PS224690 16 Feb 2016 Disease Meier-Gorlin syndrome 1 NCBI curation C4552001 224690 16 Feb 2016 Disease Meier-Gorlin syndrome 2 NCBI curation C3151097 613800 16 Feb 2016 Disease Meier-Gorlin syndrome 3 NCBI curation C3151113 613803 16 Feb 2016 Disease Meier-Gorlin syndrome 4 NCBI curation C3151120 613804 16 Feb 2016 Disease Meier-Gorlin syndrome 5 NCBI curation C3151126 613805 16 Feb 2016 Disease Meier-gorlin syndrome 6 NCBI curation C4225188 616835 26 May 2016 Disease Meier-gorlin syndrome 7 NCBI curation C4310738 617063 24 Aug 2016 Disease MEIER-GORLIN SYNDROME 8 OMIM C4479655 617564 617564 12 Jul 2017 Disease Meigel disease C1859850 203760 16 Feb 2016 Disease Meigs syndrome MONDO C0025184 MONDO:0017799 17 Apr 2020 Disease Meinecke Pepper syndrome 16 Feb 2016 Disease Meinecke syndrome 16 Feb 2016 Disease MEIS2-related disorder 13 Oct 2017 Disease MEK Inhibitor response 04 May 2018 Pharmacological response Melancholia MONDO MONDO:0002444 17 Apr 2020 Disease Melanin pigment aggregation in hair shafts Human Phenotype Ontology C1843390 HP:0002220 16 Feb 2016 Finding Melanoacanthoma MONDO C1321683 MONDO:0006579 17 Apr 2020 Disease MELANOCORTIN 4 RECEPTOR POLYMORPHISM 03 May 2019 Disease Melanocytic lesions of CNS 16 Feb 2016 Disease Melanocytic neoplasm MONDO C1302746 MONDO:0021143 17 Apr 2020 Disease Melanocytic nevus Human Phenotype Ontology C0027962 HP:0000995 16 Feb 2016 Finding Melanocytic skin neoplasm MONDO C0349501 MONDO:0021583 17 Apr 2020 Disease Melanoma NCBI curation CN971653 16 Feb 2016 Disease Melanoma and neural system tumor syndrome MONDO C1835042 MONDO:0007967 155755 17 Apr 2020 Disease Melanoma associated retinopathy MONDO C0730308 MONDO:0023868 17 Apr 2020 Disease melanoma cancer CN235599 19 Mar 2016 Finding Melanoma tumor antigen gp90 NCBI curation C1835040 155770 16 Feb 2016 Disease Melanoma, cutaneous malignant, susceptibility to, 10 NCBI curation C4014476 615848 16 Feb 2016 Disease Melanoma, malignant familial intraocular NCBI curation C1835043 155700 16 Feb 2016 Disease Melanoma, uveal 1 NCBI curation C1847724 606660 16 Feb 2016 Disease Melanoma, uveal 2 NCBI curation C1847723 606661 16 Feb 2016 Disease Melanoma-pancreatic cancer syndrome NCBI curation C1838547 606719 16 Feb 2016 Disease Melanomatosis MONDO C1334691 MONDO:0004141 17 Apr 2020 Disease Melanonychia Human Phenotype Ontology C1142305 HP:0100644 16 Feb 2016 Finding Melanosis, universal NCBI curation C1835039 16 Feb 2016 Disease Melanotic medulloblastoma MONDO C1275668 MONDO:0002796 17 Apr 2020 Disease Melanotic neurilemmoma MONDO C1306247 MONDO:0002558 17 Apr 2020 Disease Melanotic neuroectodermal tumor MONDO C0206094 MONDO:0002072 17 Apr 2020 Disease Melanotic psammomatous malignant peripheral nerve sheath tumor MONDO C1513101 MONDO:0003862 17 Apr 2020 Disease Melasma Human Phenotype Ontology C0025218 HP:0025272 02 Apr 2017 Finding Melena Human Phenotype Ontology C0025222 HP:0002249 16 Feb 2016 Finding Melhem-Fahl syndrome MONDO C2931453 MONDO:0016622 22 Apr 2020 Disease Meliodosis 16 Feb 2016 Disease Melioidosis MONDO C0025229 MONDO:0017775 04 Jun 2020 Infectious disease Melioidosis, resistance to NCBI curation C3715193 16 Feb 2016 Disease Melioidosis, susceptibility to NCBI curation C3809925 615557 16 Feb 2016 Disease Melkersson-Rosenthal syndrome C0025235 155900 16 Feb 2016 Disease Melnick-Fraser syndrome NCBI curation C4551702 113650 16 Feb 2016 Disease Melnick-Needles syndrome C0025237 309350 16 Feb 2016 Disease Melon allergy MONDO MONDO:0000784 17 Apr 2020 Disease Melorheostosis C3149631 155950 16 Feb 2016 Disease MELORHEOSTOSIS, ISOLATED, SOMATIC MOSAIC 25 Jun 2020 Disease Meloxicam response NCBI curation CN533582 16 Oct 2017 Pharmacological response Membranoproliferative glomerulonephritis (disease) MONDO MONDO:0002461 17 Apr 2020 Disease Membranoproliferative glomerulonephritis with complement factor h deficiency NCBI curation CN071292 16 Feb 2016 Disease Membranoproliferative glomerulonephritis, X-linked NCBI curation C1844501 305800 16 Feb 2016 Disease Membranous choanal atresia Human Phenotype Ontology C4023174 HP:0011820 16 Feb 2016 Finding Membranous cranial ossification, delayed NCBI curation C1835030 155980 16 Feb 2016 Disease Membranous glomerulonephritis 16 Feb 2016 Disease Membranous nephropathy Human Phenotype Ontology C0017665 HP:0012578 16 Feb 2016 Finding Membranous nephropathy, susceptibility to NCBI curation C3553496 614692 16 Feb 2016 Disease Membranous obstruction of inferior vena cava NCBI curation 109380002 16 Feb 2016 Disease Membranous subvalvular aortic stenosis Human Phenotype Ontology C1848978 HP:0005174 16 Feb 2016 Finding Membranous ventricular septal aneurysm Human Phenotype Ontology C4476874 HP:0030958 04 Apr 2018 Finding Membranous vitreous appearance Human Phenotype Ontology C4477006 HP:0031153 04 Apr 2018 Finding memory disturbance 13 Feb 2020 Finding Memory impairment Human Phenotype Ontology C0233794 HP:0002354 16 Feb 2016 Finding Memory impairment, susceptibility to NCBI curation 16 Feb 2016 Disease Memory quantitative trait locus NCBI curation C3810089 615602 16 Feb 2016 Disease Men1 somatic mutations NCBI curation 16 Feb 2016 Disease MEN2 phenotype: Unclassified NCBI curation CN076152 16 Feb 2016 Disease MEN2 phenotype: Unknown NCBI curation CN076151 16 Feb 2016 Disease MEN2A and FMTC 16 Feb 2016 Disease MEN2A and Unclassified 16 Feb 2016 Disease menace reflex 11 May 2019 Finding Menarche, age at, quantitative trait locus 1 NCBI curation C1970484 610873 16 Feb 2016 Disease Menarche, age at, quantitative trait locus 2 NCBI curation C2752070 612882 16 Feb 2016 Disease Menarche, age at, quantitative trait locus 3 NCBI curation C2752069 612883 16 Feb 2016 Disease MEND syndrome NCBI curation C4085243 300960 16 Feb 2016 Disease Mendelian susceptibility to mycobacterial diseases due to a complete deficiency MONDO MONDO:0020636 17 Apr 2020 Disease Mendelian susceptibility to mycobacterial diseases due to a partial deficiency MONDO MONDO:0020637 17 Apr 2020 Disease Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency MONDO C2930924 MONDO:0020530 17 Apr 2020 Disease Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 13 Oct 2017 Finding Mengel Konigsmark syndrome 16 Feb 2016 Disease Meningeal angiomatosis cleft hypoplastic left heart 16 Feb 2016 Disease Meningeal calcification Human Phenotype Ontology C4022181 HP:0100250 16 Feb 2016 Finding Meningeal melanocytoma MONDO C1266113 MONDO:0016746 17 Apr 2020 Disease Meningeal melanomatosis MONDO C1266114 MONDO:0004512 17 Apr 2020 Disease Meningeal Neoplasms NCBI curation C0025284 02 Mar 2017 Disease Meningeal sarcoma MONDO C0302327 MONDO:0004308 17 Apr 2020 Disease Meninges hemangiopericytoma MONDO C0349622 MONDO:0003223 17 Apr 2020 Disease Meningioma Human Phenotype Ontology C0025286 HP:0002858 16 Feb 2016 Disease Meningioma, familial NCBI curation C3551915 607174 16 Feb 2016 Disease Meningitis Human Phenotype Ontology C0025289 HP:0001287 16 Feb 2016 Finding Meningitis (disease) MONDO MONDO:0021108 17 Apr 2020 Disease Meningitis caused by poliovirus MONDO C4303134 MONDO:0024620 04 Jun 2020 Infectious disease Meningocele Human Phenotype Ontology C0025299 HP:0002435 16 Feb 2016 Finding Meningococcal infection CN281710 16 Feb 2016 Infectious disease Meningococcal meningitis MONDO C0025294 MONDO:0018059 04 Jun 2020 Infectious disease Meningococcemia C0025306 16 Feb 2016 Infectious disease Meningoencephalitis MONDO C0025309 MONDO:0005845 17 Apr 2020 Disease Meningoencephalocele Human Phenotype Ontology C0266456 HP:0006888 16 Feb 2016 Disease Meningoencephalocele-arthrogryposis-hypoplastic thumb 16 Feb 2016 Disease Meningothelial meningioma MONDO C0334605 MONDO:0004145 17 Apr 2020 Disease Meningovascular neurosyphilis MONDO CN281932 MONDO:0000336 04 Jun 2020 Infectious disease Menke-Hennekam syndrome OMIM phenotypic series CN262173 PS618332 05 Aug 2019 Disease Menke-Hennekam syndrome 1 NCBI curation C5193034 618332 25 Feb 2019 Disease Menke-Hennekam syndrome 2 NCBI curation C5193035 618333 25 Feb 2019 Disease Menkes disease, copper-replacement responsive NCBI curation C4016447 16 Feb 2016 Disease Menkes disease, mild NCBI curation C4016446 16 Feb 2016 Disease Menkes kinky-hair syndrome C0022716 309400 16 Feb 2016 Disease Menometrorrhagia Human Phenotype Ontology C0232943 HP:0400008 16 Feb 2016 Finding Menopause PharmGKB 06 Jul 2018 Disease Menopause, natural, age at, quantitative trait locus 1 NCBI curation C1970897 300488 16 Feb 2016 Disease Menopause, natural, age at, quantitative trait locus 2 NCBI curation C2752068 612884 16 Feb 2016 Disease Menopause, natural, age at, quantitative trait locus 4 NCBI curation C2752066 612886 16 Feb 2016 Disease Menorrhagia Human Phenotype Ontology C0025323 HP:0000132 16 Feb 2016 Finding Menstrual irregularities Human Phenotype Ontology C0156404 HP:0000858 16 Feb 2016 Finding Mental and growth retardation with amblyopia NCBI curation C1835028 156190 16 Feb 2016 Disease Mental deficiency-epilepsy-endocrine disorders 16 Feb 2016 Disease Mental delay 26 Oct 2019 Finding Mental depression NCBI curation C0011570 17 Jan 2020 Disease Mental deterioration Human Phenotype Ontology C0234985 HP:0001268 16 Feb 2016 Finding Mental disorder NCBI curation C0004936 16 Feb 2016 Disease Mental Disorders PharmGKB CN240636 17 Feb 2017 Disease Mental health wellness 1 NCBI curation C1863621 603663 16 Feb 2016 Disease Mental health wellness 2 NCBI curation C1863620 603664 16 Feb 2016 Disease Mental instability 01 May 2019 Finding Mental mixed retardation deafnes clubbed digits 16 Feb 2016 Disease Mental Retardation 30 Nov 2018 Finding Mental retardation 17, X-linked NCBI curation C0796238 300705 16 Feb 2016 Disease Mental retardation 21, X-linked NCBI curation C0796227 300143 16 Feb 2016 Disease Mental retardation 23, X-linked NCBI curation C0796229 300046 16 Feb 2016 Disease Mental retardation 3, X-linked NCBI curation C0796208 309541 16 Feb 2016 Disease Mental retardation 30, X-linked NCBI curation C0796237 300558 16 Feb 2016 Disease Mental retardation 42, X-linked NCBI curation C1845810 300372 16 Feb 2016 Disease Mental retardation 46, X-linked NCBI curation C1845526 300436 16 Feb 2016 Disease Mental retardation 49, X-linked NCBI curation C0796221 300114 16 Feb 2016 Disease Mental retardation 58, X-linked NCBI curation C1846174 300210 16 Feb 2016 Disease Mental retardation 63, X-linked NCBI curation C1845672 300387 16 Feb 2016 Disease Mental retardation 9, X-linked NCBI curation C0796215 309549 16 Feb 2016 Disease Mental retardation 91, X-linked NCBI curation C1845142 300577 16 Feb 2016 Disease Mental retardation 92, X-linked NCBI curation C1845144 300851 16 Feb 2016 Disease Mental retardation 95, X-linked NCBI curation C2678034 300716 16 Feb 2016 Disease Mental retardation and distinctive facial features with or without cardiac defects NCBI curation C4225208 616789 16 Feb 2016 Disease Mental retardation and macro-orchidism, X-linked 16 Feb 2016 Disease Mental retardation and microcephaly with pontine and cerebellar hypoplasia NCBI curation C2677903 300749 16 Feb 2016 Disease Mental retardation and psoriasis NCBI curation C3275610 309480 16 Feb 2016 Disease Mental retardation anophthalmia craniosynostosis 16 Feb 2016 Disease Mental retardation arachnodactyly hypotonia telangiectasia 16 Feb 2016 Disease Mental retardation athetosis microphthalmia 16 Feb 2016 Disease Mental retardation blepharophimosis obesity web neck 16 Feb 2016 Disease Mental retardation cataracts calcified pinnae myopathy 16 Feb 2016 Disease Mental retardation coloboma slimness 16 Feb 2016 Disease Mental retardation contractural arachnodactyly 16 Feb 2016 Disease Mental retardation craniofacial abnormal microcephaly club, X-linked 16 Feb 2016 Disease Mental retardation De Silva type, X-linked NCBI curation CN074057 16 Feb 2016 Disease Mental retardation dysmorphism hypogonadism diabetes 16 Feb 2016 Disease Mental retardation epilepsy 16 Feb 2016 Disease Mental retardation epilepsy bulbous nose 16 Feb 2016 Disease Mental retardation gynecomastia obesity X-linked 16 Feb 2016 Disease Mental retardation hip luxation G6PD variant 16 Feb 2016 Disease Mental retardation hypocupremia hypobetalipoproteinemia 16 Feb 2016 Disease Mental retardation hypotonia skin hyperpigmentation 16 Feb 2016 Disease Mental retardation macrocephaly coarse facies hypotonia 16 Feb 2016 Disease Mental retardation microcephaly phalangeal facial 16 Feb 2016 Disease Mental retardation microcephaly unusual facies 16 Feb 2016 Disease Mental retardation multiple nevi 16 Feb 2016 Disease Mental retardation myopathy short stature endocrine defect 16 Feb 2016 Disease Mental retardation nasal hypoplasia obesity genital hypoplasia 16 Feb 2016 Disease Mental retardation nasal papillomata 16 Feb 2016 Disease Mental retardation non-syndromic CN240380 31 Jan 2017 Disease Mental retardation of unknown origin 02 Feb 2019 Finding Mental retardation osteosclerosis 16 Feb 2016 Disease Mental retardation progressive spasticity 16 Feb 2016 Disease Mental retardation psychosis macroorchidism 16 Feb 2016 Disease Mental retardation short broad thumbs 16 Feb 2016 Disease Mental retardation short stature absent phalanges 16 Feb 2016 Disease Mental retardation short stature Bombay phenotype 16 Feb 2016 Disease Mental retardation short stature cleft palate unusual facies 16 Feb 2016 Disease Mental retardation short stature deafness genital 16 Feb 2016 Disease Mental retardation short stature hand contractures genital anomalies 16 Feb 2016 Disease Mental retardation short stature heart and skeletal anomalies 16 Feb 2016 Disease Mental retardation short stature hypertelorism 16 Feb 2016 Disease Mental retardation short stature microcephaly eye 16 Feb 2016 Disease Mental retardation short stature ocular and articular anomalies 16 Feb 2016 Disease Mental retardation short stature scoliosis 16 Feb 2016 Disease Mental retardation short stature unusual facies 16 Feb 2016 Disease Mental retardation spasticity ectrodactyly 16 Feb 2016 Disease Mental retardation syndrome, X-linked, Siderius type CN260154 20 Jun 2019 Disease Mental retardation type Martinez, X-linked 16 Feb 2016 Disease Mental retardation type Raynaud, X-linked 16 Feb 2016 Disease Mental retardation type Schutz, X-linked 16 Feb 2016 Disease Mental retardation type Wittwer, X-linked 16 Feb 2016 Disease Mental retardation unusual facies 16 Feb 2016 Disease Mental retardation unusual facies talipes hand anomalies 16 Feb 2016 Disease Mental retardation with language impairment and with or without autistic features NCBI curation C4013764 613670 16 Feb 2016 Disease Mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature NCBI curation C1836915 609037 16 Feb 2016 Disease Mental retardation with panhypopituitarism, X-linked NCBI curation C2678223 300123 16 Feb 2016 Disease Mental retardation with psychosis, pyramidal signs, and macroorchidism NCBI curation C1848211 16 Feb 2016 Disease Mental retardation with spastic paraplegia NCBI curation C1839727 309640 16 Feb 2016 Disease Mental retardation with spastic paraplegia and palmoplantar hyperkeratosis NCBI curation C2745996 309560 16 Feb 2016 Disease Mental retardation X-linked borderline Maoa metabolism anomaly 16 Feb 2016 Disease Mental retardation X-linked Brunner type 16 Feb 2016 Disease Mental retardation X-linked dysmorphism 16 Feb 2016 Disease Mental retardation X-linked dystonia dysarthria 16 Feb 2016 Disease Mental retardation X-linked short stature obesity 16 Feb 2016 Disease Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance NCBI curation C1845366 300486 16 Feb 2016 Disease Mental retardation X-linked, South African type 16 Feb 2016 Disease Mental retardation, anterior maxillary protrusion, and strabismus NCBI curation C3150924 613671 16 Feb 2016 Disease Mental retardation, autosomal dominant OMIM phenotypic series CN240835 PS156200 03 Mar 2017 Disease Mental retardation, autosomal dominant 1 NCBI curation C1969562 156200 16 Feb 2016 Disease Mental retardation, autosomal dominant 10 NCBI curation C3280284 614256 16 Feb 2016 Disease Mental retardation, autosomal dominant 11 NCBI curation C3280285 614257 16 Feb 2016 Disease Mental retardation, autosomal dominant 13 NCBI curation C3281202 614563 16 Feb 2016 Disease Mental retardation, autosomal dominant 14 NCBI curation C3553247 614607 16 Feb 2016 Disease Mental retardation, autosomal dominant 15 NCBI curation C3553248 614608 16 Feb 2016 Disease Mental retardation, autosomal dominant 16 NCBI curation C3553249 614609 16 Feb 2016 Disease Mental retardation, autosomal dominant 18 NCBI curation C3554448 615074 16 Feb 2016 Disease Mental retardation, autosomal dominant 19 NCBI curation C3554449 615075 16 Feb 2016 Disease Mental retardation, autosomal dominant 2 NCBI curation C3279842 614113 16 Feb 2016 Disease Mental retardation, autosomal dominant 21 NCBI curation C3809686 615502 16 Feb 2016 Disease Mental retardation, autosomal dominant 22 NCBI curation C3808184 612337 24 Aug 2016 Disease Mental retardation, autosomal dominant 23 NCBI curation C3810406 615761 16 Feb 2016 Disease Mental retardation, autosomal dominant 24 NCBI curation C4014414 615828 16 Feb 2016 Disease Mental retardation, autosomal dominant 26 NCBI curation C4014435 615834 16 Feb 2016 Disease Mental retardation, autosomal dominant 27 NCBI curation C4014528 615866 16 Feb 2016 Disease Mental retardation, autosomal dominant 29 NCBI curation C4015141 616078 16 Feb 2016 Disease Mental retardation, autosomal dominant 3 NCBI curation C2675488 612580 16 Feb 2016 Disease Mental retardation, autosomal dominant 30 NCBI curation C4015167 616083 16 Feb 2016 Disease Mental retardation, autosomal dominant 31 NCBI curation C4015357 616158 16 Feb 2016 Disease Mental retardation, autosomal dominant 32 NCBI curation C4225396 616268 16 Feb 2016 Disease Mental retardation, autosomal dominant 33 NCBI curation C4225375 616311 16 Feb 2016 Disease Mental retardation, autosomal dominant 34 NCBI curation C4225156 616351 16 Feb 2016 Disease Mental retardation, autosomal dominant 35 NCBI curation C4225354 616355 16 Feb 2016 Disease Mental retardation, autosomal dominant 36 NCBI curation C4225352 616362 16 Feb 2016 Disease Mental retardation, autosomal dominant 38 NCBI curation C4225343 616393 16 Feb 2016 Disease Mental retardation, autosomal dominant 39 NCBI curation C4225296 616521 16 Feb 2016 Disease Mental retardation, autosomal dominant 4 NCBI curation C2675487 612581 16 Feb 2016 Disease Mental retardation, autosomal dominant 40 NCBI curation C4225275 616579 16 Feb 2016 Disease Mental retardation, autosomal dominant 41 NCBI curation C4310784 616944 23 Aug 2019 Disease Mental retardation, autosomal dominant 42 NCBI curation C4310774 616973 24 Aug 2016 Disease Mental retardation, autosomal dominant 43 NCBI curation C4310771 616977 13 Aug 2017 Disease Mental retardation, autosomal dominant 44 NCBI curation C4310740 617061 20 Jun 2017 Disease Mental retardation, autosomal dominant 5 NCBI curation C2675473 612621 16 Feb 2016 Disease MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 OMIM C4748003 618050 618050 14 Jul 2018 Disease MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 OMIM C4748195 618106 618106 02 Sep 2018 Disease Mental retardation, autosomal dominant 6 NCBI curation C3151411 613970 16 Feb 2016 Disease Mental retardation, autosomal dominant 7 NCBI curation C3279839 614104 16 Feb 2016 Disease Mental retardation, autosomal recessive 1 NCBI curation C1855304 249500 26 May 2016 Disease Mental retardation, autosomal recessive 10 NCBI curation C1970194 611096 16 Feb 2016 Disease Mental retardation, autosomal recessive 11 NCBI curation C1970193 611097 16 Feb 2016 Disease Mental retardation, autosomal recessive 12 NCBI curation C1970200 611090 16 Feb 2016 Disease Mental retardation, autosomal recessive 13 NCBI curation C2750791 613192 16 Feb 2016 Disease Mental retardation, autosomal recessive 14 NCBI curation C3151462 614020 16 Feb 2016 Disease Mental retardation, autosomal recessive 15 NCBI curation C3280127 614202 16 Feb 2016 Disease Mental retardation, autosomal recessive 16 NCBI curation C3280154 614208 16 Feb 2016 Disease Mental retardation, autosomal recessive 18 NCBI curation C3280265 614249 16 Feb 2016 Disease Mental retardation, autosomal recessive 19 NCBI curation C3280541 614343 16 Feb 2016 Disease Mental retardation, autosomal recessive 2 NCBI curation C1843942 607417 16 Feb 2016 Disease Mental retardation, autosomal recessive 23 NCBI curation C3280542 614344 16 Feb 2016 Disease Mental retardation, autosomal recessive 24 NCBI curation C3280543 614345 16 Feb 2016 Disease Mental retardation, autosomal recessive 25 NCBI curation C3280544 614346 16 Feb 2016 Disease Mental retardation, autosomal recessive 27 NCBI curation C3280538 614340 16 Feb 2016 Disease Mental retardation, autosomal recessive 28 NCBI curation C3280545 614347 16 Feb 2016 Disease Mental retardation, autosomal recessive 29 NCBI curation C3280525 614333 16 Feb 2016 Disease Mental retardation, autosomal recessive 3 NCBI curation C1838023 608443 16 Feb 2016 Disease Mental retardation, autosomal recessive 30 NCBI curation C3280540 614342 16 Feb 2016 Disease Mental retardation, autosomal recessive 31 NCBI curation C3280523 614329 16 Feb 2016 Disease Mental retardation, autosomal recessive 33 NCBI curation C3280539 614341 16 Feb 2016 Disease Mental retardation, autosomal recessive 34 NCBI curation C3281044 614499 16 Feb 2016 Disease Mental retardation, autosomal recessive 35 NCBI curation C3554609 615162 16 Feb 2016 Disease Mental retardation, autosomal recessive 36 NCBI curation C3809039 615286 16 Feb 2016 Disease Mental retardation, autosomal recessive 37 NCBI curation C3809672 615493 16 Feb 2016 Disease Mental retardation, autosomal recessive 38 NCBI curation C3809753 615516 16 Feb 2016 Disease Mental retardation, autosomal recessive 39 NCBI curation C3809853 615541 16 Feb 2016 Disease Mental retardation, autosomal recessive 4 NCBI curation C1970179 611107 16 Feb 2016 Disease Mental retardation, autosomal recessive 40 NCBI curation C3810080 615599 16 Feb 2016 Disease Mental retardation, autosomal recessive 41 NCBI curation C3810225 615637 16 Feb 2016 Disease Mental retardation, autosomal recessive 42 NCBI curation C4014343 615802 16 Feb 2016 Disease Mental retardation, autosomal recessive 43 NCBI curation C4014386 615817 16 Feb 2016 Disease Mental retardation, autosomal recessive 44 NCBI curation C4014745 615942 16 Feb 2016 Disease Mental retardation, autosomal recessive 45 NCBI curation C4014864 615979 16 Feb 2016 Disease Mental retardation, autosomal recessive 46 NCBI curation C4015283 616116 16 Feb 2016 Disease Mental retardation, autosomal recessive 47 NCBI curation C4015444 616193 16 Feb 2016 Disease Mental retardation, autosomal recessive 48 NCBI curation C4225395 616269 16 Feb 2016 Disease Mental retardation, autosomal recessive 49 NCBI curation C4225388 616281 16 Feb 2016 Disease Mental retardation, autosomal recessive 5 NCBI curation C1970199 611091 16 Feb 2016 Disease Mental retardation, autosomal recessive 50 NCBI curation C4225319 616460 16 Feb 2016 Disease Mental retardation, autosomal recessive 51 NCBI curation C4225220 616739 16 Feb 2016 Disease Mental retardation, autosomal recessive 52 NCBI curation C4225168 616887 26 May 2016 Disease Mental retardation, autosomal recessive 53 NCBI curation C4310794 616917 26 May 2016 Disease Mental retardation, autosomal recessive 54 NCBI curation C4310755 617028 24 Aug 2016 Disease Mental retardation, autosomal recessive 55 NCBI curation C4310745 617051 24 Aug 2016 Disease Mental retardation, autosomal recessive 56 NCBI curation C4310703 617125 20 Jun 2017 Disease Mental retardation, autosomal recessive 57 NCBI curation C4310673 617188 20 Jun 2017 Disease Mental retardation, autosomal recessive 58 NCBI curation C4310641 617270 20 Jun 2017 Disease Mental retardation, autosomal recessive 59 NCBI curation C4310619 617323 20 Jun 2017 Disease Mental retardation, autosomal recessive 6 NCBI curation C1970198 611092 16 Feb 2016 Disease Mental retardation, autosomal recessive 60 NCBI curation C4479476 617432 20 Jun 2017 Disease MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64 OMIM C4748192 618103 618103 31 Aug 2018 Disease MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66 OMIM C4748732 618221 618221 08 Dec 2018 Disease Mental retardation, autosomal recessive 7 NCBI curation C1970197 611093 16 Feb 2016 Disease Mental retardation, autosomal recessive 9 NCBI curation C1970195 611095 16 Feb 2016 Disease Mental retardation, CASK-related, X-linked NCBI curation CN043158 16 Feb 2016 Disease Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth C0796094 249620 16 Feb 2016 Disease Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma NCBI curation C1836330 609313 24 Aug 2016 Disease Mental retardation, fra12a type NCBI curation C1969893 136630 16 Feb 2016 Disease Mental retardation, macrocephaly, short stature and craniofacial dysmorphism 16 Feb 2016 Disease Mental retardation, microcephaly, epilepsy, and coarse face NCBI curation C1832437 601352 16 Feb 2016 Disease Mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism NCBI curation C1853480 606242 16 Feb 2016 Disease Mental retardation, obesity, mandibular prognathism, and eye and skin anomalies NCBI curation C1847522 606772 16 Feb 2016 Disease Mental Retardation, Psychosocial 27 Aug 2019 Disease Mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration NCBI curation C1864549 602685 16 Feb 2016 Disease Mental retardation, short stature, facial anomalies, and joint dislocations NCBI curation C1853507 606220 16 Feb 2016 Disease Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations NCBI curation C3150700 613443 16 Feb 2016 Disease Mental retardation, syndromic 14, X-linked NCBI curation C1970822 300676 16 Feb 2016 Disease Mental retardation, syndromic 9, X-linked NCBI curation C2678039 300709 16 Feb 2016 Disease Mental retardation, syndromic, Claes-Jensen type, X-linked NCBI curation C1845243 300534 16 Feb 2016 Disease Mental retardation, with or without seizures, ARX-related, X-linked NCBI curation C0796244 300419 16 Feb 2016 Disease Mental retardation, X-linked C1136249 19 Jun 2019 Disease Mental retardation, X-linked 1 NCBI curation C2931498 309530 20 May 2016 Disease Mental retardation, X-linked 1/78 CN260158 20 Jun 2019 Disease Mental retardation, X-linked 100 NCBI curation C3890167 300923 16 Feb 2016 Disease Mental retardation, X-linked 101 NCBI curation C3890168 300928 16 Feb 2016 Disease Mental retardation, X-linked 102 NCBI curation C4085582 300958 16 Feb 2016 Disease Mental retardation, X-linked 103 NCBI curation C4310818 300982 20 Jun 2017 Disease Mental retardation, X-linked 104 NCBI curation C4310817 300983 20 Jun 2017 Disease Mental retardation, X-linked 105 NCBI curation C4310816 300984 20 Jun 2017 Disease Mental retardation, X-linked 12 NCBI curation C0796218 300957 16 Feb 2016 Disease Mental retardation, X-linked 12/35 CN260159 20 Jun 2019 Disease Mental retardation, X-linked 18 NCBI curation C0796224 09 Jan 2017 Disease Mental retardation, X-linked 19 NCBI curation C0796225 300844 16 Feb 2016 Disease Mental retardation, X-linked 2 NCBI curation C0796207 300428 16 Feb 2016 Disease Mental retardation, X-linked 20 NCBI curation C0796226 300047 16 Feb 2016 Disease Mental retardation, X-linked 29 and others CN260160 20 Jun 2019 Disease Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) CN260161 20 Jun 2019 Disease Mental retardation, X-linked 30/47 CN260162 20 Jun 2019 Disease Mental retardation, X-linked 45 NCBI curation C1845333 300498 16 Feb 2016 Disease Mental retardation, X-linked 50 NCBI curation C1848087 300115 16 Feb 2016 Disease Mental retardation, X-linked 53 NCBI curation C1845889 300324 16 Feb 2016 Disease Mental retardation, X-linked 61 NCBI curation C4283894 300978 24 Aug 2016 Disease Mental retardation, X-linked 72 NCBI curation C1846038 300271 16 Feb 2016 Disease Mental retardation, X-linked 73 NCBI curation C1845860 300355 16 Feb 2016 Disease Mental retardation, X-linked 77 NCBI curation C1845499 300454 16 Feb 2016 Disease Mental retardation, X-linked 81 NCBI curation C1845531 300433 16 Feb 2016 Disease Mental retardation, X-linked 82 NCBI curation C1845286 300518 16 Feb 2016 Disease Mental retardation, X-linked 84 NCBI curation C1845297 300505 16 Feb 2016 Disease Mental retardation, X-linked 9/44 CN260163 20 Jun 2019 Disease Mental retardation, X-linked 93 NCBI curation C1970841 300659 16 Feb 2016 Disease Mental retardation, X-linked 96 NCBI curation C3275408 300802 16 Feb 2016 Disease Mental retardation, X-linked 98 NCBI curation C3806730 300912 16 Feb 2016 Disease Mental retardation, X-linked 99 NCBI curation C3806746 300919 16 Feb 2016 Disease Mental retardation, X-linked 99, syndromic, female-restricted NCBI curation C4225416 300968 26 May 2016 Disease Mental retardation, X-linked, FRAXE type CN239950 20 Jan 2017 Disease Mental retardation, X-linked, syndromic 10 NCBI curation CN034279 16 Feb 2016 Disease Mental retardation, X-linked, syndromic 11, Shashi type CN260155 20 Jun 2019 Disease Mental retardation, X-linked, syndromic 12 NCBI curation C1839792 309545 16 Feb 2016 Disease Mental retardation, X-linked, syndromic 13 NCBI curation C1968550 300055 16 Feb 2016 Disease Mental retardation, X-linked, syndromic 15 (Cabezas type) CN260156 20 Jun 2019 Disease Mental retardation, X-linked, syndromic 17 NCBI curation C3275460 300858 16 Feb 2016 Disease Mental retardation, X-linked, syndromic 32 NCBI curation C3550913 300886 16 Feb 2016 Disease Mental retardation, X-linked, syndromic 33 NCBI curation C4225418 300966 16 Feb 2016 Disease Mental retardation, X-linked, syndromic 34 NCBI curation C4225417 300967 22 Jun 2017 Disease MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 OMIM C4478383 300998 300998 07 Jul 2017 Disease Mental retardation, X-linked, syndromic, Bain type NCBI curation C4310814 300986 20 Jun 2017 Disease Mental retardation, X-linked, syndromic, chudley-schwartz type NCBI curation C3275471 300861 16 Feb 2016 Disease Mental retardation, X-linked, syndromic, Hedera type NCBI curation C1845543 300423 16 Feb 2016 Disease Mental retardation, X-linked, syndromic, martin-probst type NCBI curation C1845285 300519 24 Aug 2016 Disease Mental retardation, X-linked, syndromic, Raymond type NCBI curation C3275406 300799 10 Jul 2017 Disease Mental retardation, X-linked, syndromic, Turner type NCBI curation C2678046 309590 09 May 2019 Disease Mental retardation, X-linked, syndromic, wu type NCBI curation C2678051 300699 16 Feb 2016 Disease Mental retardation, X-linked, with isolated growth hormone deficiency NCBI curation C1848068 16 Feb 2016 Disease Mental retardation, X-linked, with or without nystagmus NCBI curation C3275356 16 Feb 2016 Disease Mental retardation-hypotonic facies syndrome X-linked, 1 C0796003 309580 16 Feb 2016 Disease Mental retardation-hypotonic facies syndrome, X-linked NCBI curation C4016452 26 May 2016 Disease Mental retardation-polydactyly-uncombable hair 16 Feb 2016 Disease Meperidine response NCBI curation CN185915 16 Feb 2016 Pharmacological response meperidine response - Dosage PharmGKB CN236533 1183574175 18 May 2016 Pharmacological response Mephenytoin, poor metabolism of NCBI curation C1836024 16 Feb 2016 Disease Meralgia paraesthetica, familial NCBI curation C1835026 156220 16 Feb 2016 Disease Meralgia paresthetica C0152110 16 Feb 2016 Disease Mercaptolactate-cysteine disulfiduria NCBI curation C0796055 249650 16 Feb 2016 Disease Mercaptopurine response NCBI curation CN077995 16 Feb 2016 Pharmacological response mercaptopurine response - Dosage, Toxicity/ADR PharmGKB CN236534 1184514050 18 May 2016 Pharmacological response Mercury poisoning 16 Feb 2016 Disease Meretoja syndrome NCBI curation C1622345 105120 16 Feb 2016 Disease MERFF syndrome NCBI curation C4016625 16 Feb 2016 Disease Merlob Grunebaum Reisner syndrome C2931499 16 Feb 2016 Disease Merlob syndrome 16 Feb 2016 Disease Meromelia Human Phenotype Ontology C0265549 HP:0030728 02 Apr 2017 Finding Merosin deficient congenital muscular dystrophy C1263858 607855 16 Feb 2016 Disease MERRF syndrome MONDO C0162672 MONDO:0010790 545000 22 Apr 2020 Disease MERRF/MELAS overlap syndrome NCBI curation C3151970 16 Feb 2016 Disease Mesangial abnormality Human Phenotype Ontology C4025733 HP:0001966 16 Feb 2016 Finding Mesangial hypercellularity Human Phenotype Ontology C4281741 HP:0012574 02 Apr 2017 Finding Mesangial proliferative glomerulonephritis C0221238 16 Feb 2016 Disease Mesangial sclerosis, diffuse renal, with ocular abnormalities NCBI curation C1855282 249660 16 Feb 2016 Disease Mesangiocapillary glomerulonephritis NCBI curation C0017662 16 Feb 2016 Disease Mesangiocapillary glomerulonephritis, type II NCBI curation C0268743 16 Feb 2016 Disease Mesangiolysis Human Phenotype Ontology C4054531 HP:0030762 02 Apr 2017 Finding Mesenchymal cell neoplasm MONDO C1334699 MONDO:0002616 17 Apr 2020 Disease Mesenchymal chondrosarcoma MONDO C0206637 MONDO:0006853 17 Apr 2020 Disease Mesenchymal glioblastoma MONDO C3829122 MONDO:0000459 17 Apr 2020 Disease Mesenchymal hamartoma MONDO C0334090 MONDO:0024478 17 Apr 2020 Disease Mesenchymal tumor of small intestine MONDO CN237511 MONDO:0018506 17 Apr 2020 Disease Mesenchymatous palpebral tumor MONDO MONDO:0020181 17 Apr 2020 Disease Mesenchymoma MONDO C0025464 MONDO:0006854 17 Apr 2020 Disease Mesenteric artery ischemia 16 Feb 2016 Disease Mesenteric cyst Human Phenotype Ontology C0025467 HP:0030451 16 Feb 2016 Finding Mesenteric lymphadenitis MONDO C0025469 MONDO:0001116 17 Apr 2020 Disease Mesenteric lymphadenitis due to Yersinia infection MONDO C0275758 MONDO:0041535 04 Jun 2020 Infectious disease Mesenteric varices MONDO C0267791 MONDO:0021643 17 Apr 2020 Disease Mesenteric vascular occlusion MONDO C0025472 MONDO:0006855 17 Apr 2020 Disease Mesenteric venous thrombosis Human Phenotype Ontology C0267412 HP:0030248 16 Feb 2016 Finding Mesial temporal lobe epilepsy with hippocampal sclerosis MONDO C4749367 MONDO:0020476 17 Apr 2020 Disease Mesiodens Human Phenotype Ontology C0266030 HP:0011067 16 Feb 2016 Finding Mesoaxial foot polydactyly Human Phenotype Ontology C4021333 HP:0010112 16 Feb 2016 Finding Mesoaxial hand polydactyly Human Phenotype Ontology C4021606 HP:0006159 16 Feb 2016 Finding Mesoaxial hexadactyly and cardiac malformation NCBI curation C0796057 249670 16 Feb 2016 Disease Mesoaxial polydactyly Human Phenotype Ontology C1848595 HP:0100260 16 Feb 2016 Finding Mesoaxial synostotic syndactyly with phalangeal reduction MONDO C1836206 MONDO:0012271 609432 22 Apr 2020 Disease Mesoblastic nephroma MONDO C0206628 MONDO:0003130 17 Apr 2020 Disease Mesocardia Human Phenotype Ontology C0265865 HP:0011599 16 Feb 2016 Finding Mesocestoidiasis MONDO C0277108 MONDO:0000294 04 Jun 2020 Infectious disease Mesodermal defects lower type 16 Feb 2016 Disease Mesomelia Human Phenotype Ontology C0549306 HP:0003027 16 Feb 2016 Disease Mesomelia-synostoses syndrome C1838162 600383 16 Feb 2016 Disease Mesomelic and rhizo-mesomelic dysplasia MONDO CN229208 MONDO:0019697 17 Apr 2020 Disease Mesomelic arm shortening Human Phenotype Ontology C1862087 HP:0005011 16 Feb 2016 Finding Mesomelic dwarfism cleft palate camptodactyly 16 Feb 2016 Disease Mesomelic dwarfism of hypoplastic tibia and radius type C1835010 156230 16 Feb 2016 Disease Mesomelic dwarfism, Reinhardt-Pfeiffer type MONDO C1860616 MONDO:0008618 191400 17 Apr 2020 Disease Mesomelic dysplasia MONDO C0410536 MONDO:0023599 17 Apr 2020 Disease Mesomelic dysplasia skin dimples 16 Feb 2016 Disease Mesomelic dysplasia, Camera type NCBI curation C2678472 611886 16 Feb 2016 Disease Mesomelic dysplasia, Kantaputra type MONDO C1835009 MONDO:0007977 156232 22 Apr 2020 Disease Mesomelic dysplasia, Savarirayan type MONDO C1854470 MONDO:0011530 605274 22 Apr 2020 Disease Mesomelic leg shortening Human Phenotype Ontology C1969178 HP:0004987 16 Feb 2016 Finding Mesomelic limb shortening and bowing NCBI curation C1855273 249710 16 Feb 2016 Disease Mesomelic short stature Human Phenotype Ontology C1855274 HP:0008845 16 Feb 2016 Finding mesomelic shortening of the limbs CN225192 16 Feb 2016 Finding Mesomelic syndrome Pfeiffer type 16 Feb 2016 Disease Mesomelic/rhizomelic limb shortening Human Phenotype Ontology C1866239 HP:0005026 16 Feb 2016 Finding Mesonephric adenocarcinoma MONDO C0025490 MONDO:0005613 17 Apr 2020 Disease Mesonephric neoplasm MONDO C0334531 MONDO:0024888 17 Apr 2020 Disease Mesothelial neoplasm MONDO C3714739 MONDO:0006856 17 Apr 2020 Disease Mesothelioma NCBI curation C0025500 16 Feb 2016 Disease Mesothelioma, malignant C0345967 156240 16 Feb 2016 Disease Metabolic acidosis Human Phenotype Ontology C0220981 HP:0001942 16 Feb 2016 Finding Metabolic alkalosis Human Phenotype Ontology C0220983 HP:0200114 16 Feb 2016 Finding METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION OMIM C4225171 616878 616878 11 May 2019 Disease METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION OMIM C5193083 618416 618416 12 May 2019 Disease Metabolic disease NCBI curation C0025517 16 Feb 2016 Disease Metabolic disease associated with ocular features MONDO MONDO:0020278 17 Apr 2020 Disease Metabolic disease due to other fatty acid oxidation disorder MONDO CN203613 MONDO:0017717 17 Apr 2020 Disease Metabolic disease involving other neurotransmitter deficiency MONDO CN205839 MONDO:0019253 17 Apr 2020 Disease Metabolic disease with corneal opacity MONDO MONDO:0020279 17 Apr 2020 Disease Metabolic disease with dementia MONDO CN207023 MONDO:0020142 17 Apr 2020 Disease Metabolic disease with epilepsy MONDO C1299598 MONDO:0015656 17 Apr 2020 Disease Metabolic disease with intestinal involvement MONDO CN197528 MONDO:0015188 17 Apr 2020 Disease Metabolic disease with macular cherry-red spot MONDO MONDO:0020282 17 Apr 2020 Disease Metabolic disease with pigmentary retinitis MONDO MONDO:0020281 17 Apr 2020 Disease Metabolic disease with skin involvement MONDO CN205935 MONDO:0019301 17 Apr 2020 Disease metabolic disorder 05 Sep 2019 Finding Metabolic encephalopathy C0006112 22 Aug 2019 Finding Metabolic epilepsy MONDO MONDO:0100033 17 Apr 2020 Disease Metabolic ketoacidosis Human Phenotype Ontology C1854704 HP:0005979 16 Feb 2016 Finding Metabolic myopathy NCBI curation C0270984 16 Feb 2016 Disease Metabolic neurotransmission anomaly with epilepsy MONDO CN226917 MONDO:0016404 17 Apr 2020 Disease Metabolic phenotype CN230743 16 Feb 2016 Finding Metabolic phenotype;Neurological phenotype 16 Feb 2016 Finding Metabolic stroke 22 Aug 2019 Finding Metabolic Syndrome PharmGKB 06 Jul 2018 Disease Metabolic syndrome X C4552048 605552 16 Feb 2016 Disease Metabolic Syndrome X;Schizophrenia PharmGKB 17 Feb 2017 Disease Metabolic syndrome, protection against NCBI curation C1970051 16 Feb 2016 Disease Metabolic syndrome, susceptibility to NCBI curation C2676079 16 Feb 2016 Disease Metabolic/ Biochemical (adult onset) CN235929 08 Apr 2016 Finding Metabolic/ Biochemical (child onset) CN232534 16 Feb 2016 Finding Metacarpal 4-5 fusion NCBI curation C1839728 309630 16 Feb 2016 Disease Metacarpal diaphyseal endosteal sclerosis Human Phenotype Ontology C1840419 HP:0006174 16 Feb 2016 Finding Metacarpal osteolysis Human Phenotype Ontology C1854610 HP:0001504 16 Feb 2016 Finding Metacarpal periosteal thickening Human Phenotype Ontology C1834347 HP:0006051 16 Feb 2016 Finding Metacarpal synostosis Human Phenotype Ontology C4021398 HP:0009701 16 Feb 2016 Finding Metacarpophalangeal joint contracture Human Phenotype Ontology C2677209 HP:0006070 16 Feb 2016 Finding Metacarpophalangeal joint hyperextensibility Human Phenotype Ontology C4025092 HP:0006099 16 Feb 2016 Finding Metacarpophalangeal synostosis Human Phenotype Ontology C4025117 HP:0005880 16 Feb 2016 Finding Metachondromatosis C0410530 156250 16 Feb 2016 Disease Metachromasia of fibroblasts MONDO C1835008 MONDO:0007980 156300 17 Apr 2020 Disease Metachromatic leukodystrophy C0023522 250100 16 Feb 2016 Disease Metachromatic leukodystrophy variant Human Phenotype Ontology C4024961 HP:0006926 16 Feb 2016 Finding Metachromatic leukodystrophy, adult type NCBI curation C0751279 16 Feb 2016 Disease Metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a NCBI curation C1835007 156310 16 Feb 2016 Disease Metachromatic leukodystrophy, juvenile type NCBI curation C0751276 16 Feb 2016 Disease Metachromatic leukodystrophy, late infantile NCBI curation C0751278 16 Feb 2016 Disease Metachromatic leukodystrophy, late infantile (R/O) 26 Aug 2019 Finding Metachromatic leukodystrophy, late-onset NCBI curation C4017093 16 Feb 2016 Disease Metachromatic leukodystrophy, mild NCBI curation C4017847 16 Feb 2016 Disease Metachromatic leukodystrophy, severe NCBI curation C4017094 16 Feb 2016 Disease Metachronous kidney Wilms' tumor MONDO C1334705 MONDO:0003317 17 Apr 2020 Disease Metachronous osteosarcoma of the bone MONDO C1334704 MONDO:0002632 17 Apr 2020 Disease Metageria C0406584 201200 16 Feb 2016 Disease metahyseal flaring CN225191 16 Feb 2016 Finding Metal allergy MONDO C0577627 MONDO:0000776 17 Apr 2020 Disease Metal transport or utilization disorder with epilepsy MONDO CN226914 MONDO:0016400 17 Apr 2020 Disease Metamorphopsia Human Phenotype Ontology C0271185 HP:0012508 16 Feb 2016 Finding Metamphetamine dependence MONDO MONDO:0005419 17 Apr 2020 Disease Metanephric adenoma MONDO C1266045 MONDO:0006301 17 Apr 2020 Disease Metaphyseal acroscyphodysplasia C1855243 250215 16 Feb 2016 Disease Metaphyseal anadysplasia NCBI curation C0432226 16 Feb 2016 Disease Metaphyseal anadysplasia 1, autosomal dominant NCBI curation C4016643 16 Feb 2016 Disease Metaphyseal anadysplasia 2 NCBI curation C2751322 613073 16 Feb 2016 Disease Metaphyseal chondrodysplasia Human Phenotype Ontology CN005173 HP:0005871 16 Feb 2016 Finding Metaphyseal chondrodysplasia (disease) MONDO MONDO:0000138 17 Apr 2020 Disease Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands C1864944 609989 16 Feb 2016 Disease Metaphyseal chondrodysplasia, Jansen type C0265295 156400 16 Feb 2016 Disease Metaphyseal chondrodysplasia, kaitila type NCBI curation C1855217 250230 16 Feb 2016 Disease Metaphyseal chondrodysplasia, McKusick type C0220748 250250 16 Feb 2016 Disease Metaphyseal chondrodysplasia, others 16 Feb 2016 Disease Metaphyseal chondrodysplasia, pena type NCBI curation C1855195 250300 16 Feb 2016 Disease Metaphyseal chondrodysplasia, Schmid type C0265289 156500 16 Feb 2016 Disease Metaphyseal chondrodysplasia, Spahr type C0432225 250400 16 Feb 2016 Disease Metaphyseal chondromatosis of femur Human Phenotype Ontology C4022530 HP:0030295 16 Feb 2016 Finding Metaphyseal chondromatosis of humerus Human Phenotype Ontology C4021860 HP:0030298 16 Feb 2016 Finding Metaphyseal chondromatosis of radius Human Phenotype Ontology C4022529 HP:0030296 16 Feb 2016 Finding Metaphyseal chondromatosis of tibia Human Phenotype Ontology C4022531 HP:0030294 16 Feb 2016 Finding Metaphyseal chondromatosis of ulna Human Phenotype Ontology C4022528 HP:0030297 16 Feb 2016 Finding Metaphyseal cupping Human Phenotype Ontology C1837082 HP:0003021 16 Feb 2016 Finding Metaphyseal cupping of metacarpals Human Phenotype Ontology C1855171 HP:0006028 16 Feb 2016 Finding Metaphyseal cupping of proximal phalanges Human Phenotype Ontology C1834980 HP:0006208 16 Feb 2016 Finding Metaphyseal dappling Human Phenotype Ontology C4020907 HP:0011860 16 Feb 2016 Finding Metaphyseal dysostosis Human Phenotype Ontology C0265290 HP:0005899 16 Feb 2016 Finding Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome MONDO C1855175 MONDO:0009599 250420 17 Apr 2020 Disease Metaphyseal dysplasia maxillary hypoplasia brachydactyly 16 Feb 2016 Disease Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly NCBI curation C3549874 156510 16 Feb 2016 Disease Metaphyseal dysplasia without hypotrichosis C1834821 250460 16 Feb 2016 Disease Metaphyseal dysplasia, anetoderma, and optic atrophy NCBI curation C1855174 250450 16 Feb 2016 Disease Metaphyseal dysplasia, braun-tinschert type NCBI curation C1853825 605946 16 Feb 2016 Disease Metaphyseal enchondromatosis Human Phenotype Ontology C4025121 HP:0005868 16 Feb 2016 Finding Metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria NCBI curation C3553958 614875 16 Feb 2016 Disease Metaphyseal fractures 13 Mar 2020 Disease Metaphyseal irregularity Human Phenotype Ontology C1838662 HP:0003025 16 Feb 2016 Finding Metaphyseal modeling abnormality, skin lesions, and spastic paraplegia MONDO C1855164 MONDO:0009602 250500 22 Apr 2020 Disease Metaphyseal rarefaction Human Phenotype Ontology C1832146 HP:0004980 16 Feb 2016 Finding Metaphyseal sclerosis Human Phenotype Ontology C3552526 HP:0004979 16 Feb 2016 Finding Metaphyseal spurs Human Phenotype Ontology C1832988 HP:0005054 16 Feb 2016 Finding Metaphyseal striations Human Phenotype Ontology C1849081 HP:0031367 04 Apr 2018 Finding Metaphyseal undermodeling, spondylar dysplasia, and overgrowth C1837316 608811 16 Feb 2016 Disease Metaphyseal widening Human Phenotype Ontology C1849039 HP:0003016 16 Feb 2016 Finding Metaplastic breast carcinoma MONDO C1334708 MONDO:0006043 17 Apr 2020 Disease Metastasis from malignant tumor of colon MONDO C1282500 MONDO:0041448 17 Apr 2020 Disease Metastatic angiosarcoma Human Phenotype Ontology C0854892 HP:0200059 16 Feb 2016 Finding Metastatic carcinoma MONDO C1384494 MONDO:0024879 17 Apr 2020 Disease Metastatic carcinoma in the adrenal medulla MONDO C1334717 MONDO:0024868 17 Apr 2020 Disease Metastatic carcinoma in the bone MONDO C0700110 MONDO:0024884 17 Apr 2020 Disease Metastatic insulinoma 16 Feb 2016 Disease Metastatic malignant neoplasm MONDO MONDO:0024880 17 Apr 2020 Disease Metastatic malignant neoplasm in the colon MONDO C0346974 MONDO:0041447 17 Apr 2020 Disease Metastatic malignant neoplasm in the eye MONDO C0347019 MONDO:0044913 17 Apr 2020 Disease Metastatic malignant neoplasm in the lymph nodes MONDO C0686619 MONDO:0005438 17 Apr 2020 Disease Metastatic malignant neoplasm in the spinal cord MONDO C0347016 MONDO:0044912 17 Apr 2020 Disease Metastatic melanoma MONDO C0278883 MONDO:0005191 17 Apr 2020 Disease Metastatic neoplasm MONDO C2939420 MONDO:0024883 17 Apr 2020 Disease Metastatic pancreatic neuroendocrine tumours 21 Nov 2017 Disease Metastatic prostate carcinoma NCBI curation C0936223 03 Mar 2017 Disease Metastatic squamous cell carcinoma MONDO C0334246 MONDO:0044907 17 Apr 2020 Disease Metastatic squamous neck cancer with occult primary 16 Feb 2016 Disease Metatarsal diaphyseal endosteal sclerosis Human Phenotype Ontology C1840420 HP:0008114 16 Feb 2016 Finding Metatarsal osteolysis Human Phenotype Ontology C1854614 HP:0001473 16 Feb 2016 Finding Metatarsal periosteal thickening Human Phenotype Ontology C1834349 HP:0008074 16 Feb 2016 Finding Metatarsal synostosis Human Phenotype Ontology C1862697 HP:0001440 16 Feb 2016 Finding Metatarsus adductus Human Phenotype Ontology C4082169 HP:0001840 16 Feb 2016 Disease Metatarsus valgus Human Phenotype Ontology C4082144 HP:0010508 16 Feb 2016 Finding Metatarsus varus, type I NCBI curation C1834968 156520 26 May 2016 Disease Metatrophic dysplasia C0265281 156530 16 Feb 2016 Disease Metatypical basal cell carcinoma MONDO MONDO:0002938 17 Apr 2020 Disease Metformin response NCBI curation C3547187 01 Sep 2017 Pharmacological response metformin response - Efficacy PharmGKB CN236564 981237900 18 May 2016 Pharmacological response Methadone response NCBI curation CN221249 16 Feb 2016 Pharmacological response methadone response - Dosage PharmGKB CN236536 1183702975 18 May 2016 Pharmacological response methadone response - Dosage, Efficacy PharmGKB 1444704833PA450401 06 Jul 2018 Pharmacological response Methamphetamine-induced psychosis MONDO MONDO:0005465 17 Apr 2020 Disease Methane production NCBI curation C1855163 250650 16 Feb 2016 Disease Methanol poisoning MONDO MONDO:0017860 17 Apr 2020 Disease Methemoglobin reductase deficiency NCBI curation C0472786 250700 16 Feb 2016 Disease Methemoglobinemia Human Phenotype Ontology C0025637 HP:0012119 16 Feb 2016 Finding Methemoglobinemia type 2 NCBI curation C2749560 16 Feb 2016 Disease Methemoglobinemia type 4 NCBI curation C4285231 250790 16 Feb 2016 Disease METHEMOGLOBINEMIA, ALPHA TYPE OMIM C4693798 617973 617973 12 May 2018 Disease Methemoglobinemia, alpha-globin type NCBI curation 16 Feb 2016 Disease Methemoglobinemia, beta-globin type NCBI curation C1840779 617971 16 Feb 2016 Disease Methemoglobinemia, type I NCBI curation C2749559 26 May 2016 Disease Methicillin-resistant staphylococcus aureus infectious disease MONDO CN281903 MONDO:0100073 04 Jun 2020 Infectious disease Methimazole antenatal infection 16 Feb 2016 Disease Methimazole embryofetopathy MONDO C4510379 MONDO:0016017 17 Apr 2020 Disease Methionine adenosyltransferase deficiency 16 Feb 2016 Disease Methionine adenosyltransferase deficiency, autosomal dominant NCBI curation CN068480 16 Feb 2016 Disease Methionine adenosyltransferase deficiency, autosomal recessive NCBI curation CN068479 16 Feb 2016 Disease Methotrexate poisoning NCBI curation C0568062 16 Feb 2016 Disease methotrexate response - Dosage, Efficacy, Toxicity/ADR PharmGKB CN240598 827848365 17 Feb 2017 Pharmacological response methotrexate response - Efficacy PharmGKB CN236565 981202609 18 May 2016 Pharmacological response methotrexate response - Toxicity/ADR PharmGKB CN236607 1296599132 18 May 2016 Pharmacological response Methotrexate-associated lymphoproliferative disorders MONDO C1334749 MONDO:0019483 03 Jun 2020 Disease Methoxyflurane CN263359 10 Mar 2020 Pharmacological response methoxyflurane response - Toxicity/ADR PharmGKB 1445400924PA450434 28 Jun 2019 Pharmacological response Methyl mercury antenatal infection 16 Feb 2016 Disease Methylcobalamin deficiency cbl G type 16 Feb 2016 Disease Methylcobalamin deficiency type cblG MONDO C1855128 MONDO:0009609 250940 22 Apr 2020 Disease Methylcobalamin deficiency, cbl E complementation type 16 Feb 2016 Disease Methylcrotonyl-CoA carboxylase deficiency NCBI curation C4551505 16 Feb 2016 Disease Methylmalonate semialdehyde dehydrogenase deficiency NCBI curation C3279840 614105 16 Feb 2016 Disease Methylmalonic acidemia Human Phenotype Ontology C0268583 HP:0002912 16 Feb 2016 Disease Methylmalonic acidemia with homocystinuria C1848561 277400 16 Feb 2016 Disease Methylmalonic acidemia with homocystinuria cblC CN239025 08 Nov 2016 Disease Methylmalonic acidemia with homocystinuria cblD NCBI curation C1848552 277410 16 Feb 2016 Disease Methylmalonic acidemia with homocystinuria, type cblJ MONDO C3553915 MONDO:0013925 614857 17 Apr 2020 Disease Methylmalonic acidemia without homocystinuria MONDO CN227121 MONDO:0017390 17 Apr 2020 Disease Methylmalonic aciduria Human Phenotype Ontology C1855119 HP:0012120 16 Feb 2016 Finding Methylmalonic aciduria and homocystinuria type cblF MONDO C1848578 MONDO:0010183 277380 22 Apr 2020 Disease METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC CN847584 08 Mar 2018 Disease Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency NCBI curation C1855114 251000 16 Feb 2016 Disease Methylmalonic aciduria due to transcobalamin receptor defect NCBI curation C3150900 613646 16 Feb 2016 Disease Methylmalonic aciduria microcephaly cataract 16 Feb 2016 Disease Methylmalonic aciduria, cblD type, variant 2 NCBI curation C1848554 16 Feb 2016 Disease METHYLMALONIC ACIDURIA, mut(-) TYPE C1855116 16 Feb 2016 Disease METHYLMALONIC ACIDURIA, mut(0) TYPE C1855115 16 Feb 2016 Disease Methylmalonicaciduria with homocystinuria cbl f 16 Feb 2016 Disease Methylmalonyl-CoA epimerase deficiency NCBI curation C1855100 251120 16 Feb 2016 Disease Methylmalonyl-coa epimerase deficiency with sepiapterin reductase deficiency NCBI curation 16 Feb 2016 Disease Methylmalonyl-Coenzyme A mutase deficiency 16 Feb 2016 Disease Methylphenidate response NCBI curation CN165241 16 Feb 2016 Pharmacological response Metoclopramide Response CN282563 17 Jun 2020 Pharmacological response metopic craniosynostosis 19 Jan 2019 Finding Metopic depression Human Phenotype Ontology C4023454 HP:0011223 16 Feb 2016 Finding Metopic ridge 23 Jan 2020 Finding Metopic ridging-ptosis-facial dysmorphism syndrome MONDO CN258725 MONDO:0044715 17 Apr 2020 Disease Metopic suture patent to nasal root Human Phenotype Ontology C4025189 HP:0005495 16 Feb 2016 Finding Metopic synostosis Human Phenotype Ontology C1860819 HP:0011330 16 Feb 2016 Finding Metoprolol response NCBI curation CN077996 16 Feb 2016 Pharmacological response Metrorrhagia Human Phenotype Ontology C0025874 HP:0100608 16 Feb 2016 Finding Mevalonic aciduria C1959626 610377 16 Feb 2016 Disease MFN2-Related Disorders 23 May 2019 Disease MFRP-related disorders 23 May 2019 Disease MFSD12 POLYMORPHISM 18 Feb 2018 Disease MHC class 1 deficiency 16 Feb 2016 Disease Michelin-tire baby C0473586 16 Jan 2020 Disease Michels Caskey syndrome C2931537 16 Feb 2016 Disease Mickleson syndrome 16 Feb 2016 Disease Micrencephaly corpus callosum agenesis 16 Feb 2016 Disease microagnathia 05 Sep 2019 Finding Microalbuminuria Human Phenotype Ontology C0730345 HP:0012594 16 Feb 2016 Finding Microangiopathic hemolytic anemia Human Phenotype Ontology C3550398 HP:0001937 237800 16 Feb 2016 Disease MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT OMIM C5231411 618564 618564 08 Sep 2019 Disease Microarray Confirmation CN231464 16 Feb 2016 Finding Microblepharia Human Phenotype Ontology C0685873 HP:0430010 16 Feb 2016 Finding Microblepharon-ablephara syndrome MONDO CN237783 MONDO:0020154 17 Apr 2020 Disease Microbrachycephaly 21 Dec 2018 Finding Microbrachycephaly ptosis cleft lip 16 Feb 2016 Disease Microcephalic osteodysplastic dysplasia, Saul-Wilson type MONDO C1300285 MONDO:0019407 618150 27 May 2020 Disease Microcephalic Osteodysplastic Primordial Dwarfism CN239360 02 Dec 2016 Disease Microcephalic osteodysplastic primordial dwarfism type II MONDO C0432246 MONDO:0008872 210720 22 Apr 2020 Disease Microcephalic osteodysplastic primordial dwarfism types I and III MONDO C4319565 MONDO:0016994 17 Apr 2020 Disease Microcephalic osteodysplastic primordial dwarfism, type 3 MONDO C1859439 MONDO:0008873 210730 22 Apr 2020 Disease Microcephalic primordial dwarfism Orphanet CN437676 ORPHA324761 05 Sep 2017 Disease Microcephalic primordial dwarfism, Toriello type MONDO C1855089 MONDO:0009616 251190 22 Apr 2020 Disease Microcephalic primordial dwarfism-insulin resistance syndrome MONDO CN237592 MONDO:0018575 17 Apr 2020 Disease Microcephaly Human Phenotype Ontology C4551563 HP:0000252 16 Feb 2016 Finding Microcephaly (disease) MONDO MONDO:0001149 17 Apr 2020 Disease Microcephaly 16, primary, autosomal recessive NCBI curation C4225249 616681 16 Feb 2016 Disease Microcephaly 17, primary, autosomal recessive NCBI curation C4310723 617090 20 Jun 2017 Disease Microcephaly 18, primary, autosomal dominant NCBI curation C4479608 617520 20 Jun 2017 Disease MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE OMIM C4540488 617800 617800 09 Dec 2017 Disease MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE OMIM C4693572 617914 617914 30 Mar 2018 Disease MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE OMIM C4693831 617983 617983 19 May 2018 Disease MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE OMIM C4693834 617984 617984 19 May 2018 Disease MICROCEPHALY 23, PRIMARY, AUTOSOMAL RECESSIVE OMIM C4693843 617985 617985 19 May 2018 Disease MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE OMIM C4748555 618179 618179 14 Nov 2018 Disease MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE OMIM C5193046 618351 618351 09 Mar 2019 Disease Microcephaly and chorioretinopathy OMIM phenotypic series CN263236 PS251270 02 Feb 2020 Disease Microcephaly and chorioretinopathy with or without mental retardation CN233046 16 Feb 2016 Disease Microcephaly and chorioretinopathy, autosomal recessive, 1 NCBI curation C3278481 251270 02 Feb 2020 Disease Microcephaly and chorioretinopathy, autosomal recessive, 2 NCBI curation C4015388 616171 16 Feb 2016 Disease Microcephaly and chorioretinopathy, autosomal recessive, 3 NCBI curation C4225362 616335 16 Feb 2016 Disease Microcephaly brachydactyly kyphoscoliosis 16 Feb 2016 Disease Microcephaly brain defect spasticity hypernatremia 16 Feb 2016 Disease Microcephaly cardiac defect lung malsegmentation 16 Feb 2016 Disease Microcephaly cardiomyopathy 16 Feb 2016 Disease Microcephaly developmental delay pancytopenia 16 Feb 2016 Disease Microcephaly glomerulonephritis Marfanoid habitus 16 Feb 2016 Disease Microcephaly immunodeficiency lymphoreticuloma 16 Feb 2016 Disease Microcephaly mental retardation retinopathy 16 Feb 2016 Disease Microcephaly mental retardation spasticity epilepsy 16 Feb 2016 Disease Microcephaly mesobrachyphalangy tracheoesophageal fistula syndrome 16 Feb 2016 Disease Microcephaly micropenis convulsions C2931525 16 Feb 2016 Disease Microcephaly microphthalmos blindness C2931526 16 Feb 2016 Disease Microcephaly pontocerebellar hypoplasia dyskinesia 16 Feb 2016 Disease Microcephaly seizures mental retardation heart disorders 16 Feb 2016 Disease Microcephaly sparse hair mental retardation seizures C2931530 16 Feb 2016 Disease Microcephaly with chorioretinopathy, autosomal dominant form NCBI curation C3501946 16 Feb 2016 Disease microcephaly with craniosynostosis 18 Aug 2017 Finding Microcephaly with mental retardation and digital anomalies NCBI curation C0796063 251255 16 Feb 2016 Disease Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation NCBI curation C1835265 152950 16 Feb 2016 Disease Microcephaly with Polymicrogyria CN229781 16 Feb 2016 Disease Microcephaly with simplified gyral pattern NCBI curation C1863516 603802 16 Feb 2016 Disease MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM OMIM C4748984 618284 618284 18 Jan 2019 Disease Microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome NCBI curation C3280692 614407 16 Feb 2016 Disease Microcephaly, congenital cataract, and psoriasiform dermatitis NCBI curation C4225189 616834 22 Jun 2016 Disease Microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs NCBI curation C1832436 601355 16 Feb 2016 Disease Microcephaly, corpus callosum dysgenesis, and cleft lip/palate MONDO C1832369 MONDO:0011077 601420 22 Apr 2020 Disease Microcephaly, Cortical Malformations, and Intellectual Disability CN239185 02 Dec 2016 Disease Microcephaly, cortical malformations, and mental retardation NCBI curation CN068381 16 Feb 2016 Disease MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME OMIM CN280942 618891 618891 23 May 2020 Disease Microcephaly, epilepsy, and diabetes syndrome NCBI curation C3280240 614231 16 Feb 2016 Disease Microcephaly, facial abnormalities, micromelia, and mental retardation NCBI curation C1863702 603572 16 Feb 2016 Disease MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME OMIM C4748348 618142 618142 07 Oct 2018 Disease MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS OMIM C5193042 618346 618346 10 Mar 2019 Disease Microcephaly, growth restriction and increased sister chromatid exchange OMIM phenotypic series CN263194 PS210900 22 Jan 2020 Disease MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 OMIM C4748176 618097 618097 01 Sep 2018 Disease Microcephaly, growth retardation, cataract, hearing loss, and unusual appearance NCBI curation C2751870 612947 16 Feb 2016 Disease Microcephaly, macrotia, and mental retardation NCBI curation C1865204 602555 16 Feb 2016 Disease Microcephaly, normal intelligence and immunodeficiency C0398791 251260 16 Feb 2016 Disease Microcephaly, postnatal progressive, with seizures and brain atrophy NCBI curation C3150921 613668 16 Feb 2016 Disease Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy NCBI curation C4014239 615760 16 Feb 2016 Disease Microcephaly, retinitis pigmentosa, and sutural cataract NCBI curation C1832214 601537 16 Feb 2016 Disease Microcephaly, severe, with skeletal anomalies including posterior rib-gap defects NCBI curation C1863919 603394 16 Feb 2016 Disease Microcephaly, short stature, and impaired glucose metabolism 1 NCBI curation C4014997 616033 24 Aug 2016 Disease Microcephaly, short stature, and impaired glucose metabolism 2 NCBI curation C4225195 616817 26 May 2016 Disease MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES OMIM C4539873 617604 617604 06 Aug 2017 Disease Microcephaly, short stature, and polymicrogyria with or without seizures NCBI curation C3553831 614833 24 Aug 2016 Disease MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES C4225499 28 Feb 2020 Disease Microcephaly-albinism-digital anomalies syndrome MONDO C1859910 MONDO:0008750 203340 22 Apr 2020 Disease Microcephaly-brachydactyly-kyphoscoliosis syndrome MONDO C2931177 MONDO:0018091 17 Apr 2020 Disease Microcephaly-brain defect-spasticity-hypernatremia syndrome MONDO CN202009 MONDO:0016758 17 Apr 2020 Disease Microcephaly-capillary malformation syndrome NCBI curation C3280296 614261 16 Feb 2016 Disease Microcephaly-cervical spine fusion anomalies syndrome MONDO C0796066 MONDO:0009621 251250 17 Apr 2020 Disease Microcephaly-cleft palate syndrome MONDO C2930954 MONDO:0016750 17 Apr 2020 Disease Microcephaly-complex motor and sensory axonal neuropathy syndrome CN273084 14 Feb 2020 Disease Microcephaly-deafness-intellectual disability syndrome MONDO C0796062 MONDO:0007991 156620 17 Apr 2020 Disease Microcephaly-digital anomalies-intellectual disability syndrome MONDO CN199250 MONDO:0015297 17 Apr 2020 Disease Microcephaly-microcornea syndrome, Seemanova type MONDO C2931524 MONDO:0016760 22 Apr 2020 Disease Microcephaly-micromelia syndrome NCBI curation C1855079 251230 16 Feb 2016 Disease Microcephaly-polymicrogyria-corpus callosum agenesis syndrome MONDO C4750772 MONDO:0015745 17 Apr 2020 Disease Microcephaly-seizures-intellectual disability-heart disease syndrome MONDO C2931529 MONDO:0016719 17 Apr 2020 Disease Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome MONDO C4749647 MONDO:0018494 17 Apr 2020 Disease Microcolon Human Phenotype Ontology C0266200 HP:0004388 251400 16 Feb 2016 Disease Microcoria Human Phenotype Ontology C4476808 HP:0025492 04 Apr 2018 Finding Microcornea Human Phenotype Ontology C0266544 HP:0000482 16 Feb 2016 Finding Microcornea corectopia macular hypoplasia 16 Feb 2016 Disease Microcornea, myopic chorioretinal atrophy, and telecanthus NCBI curation C3809567 615458 16 Feb 2016 Disease Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma NCBI curation C2674009 16 Feb 2016 Disease Microcornea-corectopia-macular hypoplasia syndrome MONDO C2931531 MONDO:0016762 17 Apr 2020 Disease Microcornea-glaucoma-absent frontal sinuses syndrome MONDO C1834935 MONDO:0007992 156700 17 Apr 2020 Disease Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome MONDO C4751163 MONDO:0016509 17 Apr 2020 Disease Microcystic adenoma MONDO C0205648 MONDO:0003435 17 Apr 2020 Disease Microcystic adnexal carcinoma 16 Feb 2016 Disease Microcystic meningioma MONDO C1384408 MONDO:0003058 17 Apr 2020 Disease Microcystic variant infiltrating bladder urothelial carcinoma MONDO C1512740 MONDO:0004418 17 Apr 2020 Disease Microcystic/reticular schwannoma MONDO C4054526 MONDO:0002556 17 Apr 2020 Disease Microcytic anemia Human Phenotype Ontology C0085576 HP:0001935 206200 16 Feb 2016 Disease Microdeletion syndromes NCBI curation C1954751 16 Feb 2016 Finding Microdontia Human Phenotype Ontology C0240340 HP:0000691 16 Feb 2016 Finding Microdontia hypodontia short stature C2931532 16 Feb 2016 Disease Microdontia of primary teeth Human Phenotype Ontology C1856203 HP:0006347 16 Feb 2016 Finding Microduplication syndromes NCBI curation CN169863 16 Feb 2016 Finding microform holoprosencephaly CN236719 01 Jun 2016 Disease Microgastria Human Phenotype Ontology C0266150 HP:0100841 16 Feb 2016 Finding Microgastria-limb reduction defect syndrome MONDO C1834929 MONDO:0007993 156810 17 Apr 2020 Disease Microglandular adenosis of breast MONDO C1334753 MONDO:0004534 17 Apr 2020 Disease Microglossia Human Phenotype Ontology C0025988 HP:0000171 16 Feb 2016 Finding Micrognathia Human Phenotype Ontology C0025990 HP:0000347 16 Feb 2016 Finding Microinvasive cervical squamous cell carcinoma MONDO C1333370 MONDO:0004552 17 Apr 2020 Disease Microinvasive gastric cancer MONDO C0349530 MONDO:0001060 17 Apr 2020 Disease Microlissencephaly NCBI curation C1956147 16 Feb 2016 Disease Microlissencephaly-micromelia syndrome MONDO C4509878 MONDO:0018860 17 Apr 2020 Disease Micromelia Human Phenotype Ontology C0025995 HP:0002983 16 Feb 2016 Finding Micromelic bone dysplasia with cloverleaf skull C1834928 156830 16 Feb 2016 Disease Micromelic dwarfism, Fryns type MONDO C1832800 MONDO:0010994 601096 17 Apr 2020 Disease Micronodular basal cell carcinoma MONDO C1367861 MONDO:0002945 17 Apr 2020 Disease Micronodular cirrhosis Human Phenotype Ontology C0267812 HP:0001413 16 Feb 2016 Finding Micropapillary serous carcinoma MONDO MONDO:0006302 17 Apr 2020 Disease Micropapillary variant infiltrating bladder urothelial carcinoma MONDO C1517579 MONDO:0004057 17 Apr 2020 Disease Micropenis Human Phenotype Ontology C4551492 HP:0000054 16 Feb 2016 Finding Microphakia Human Phenotype Ontology C0266541 HP:0012376 16 Feb 2016 Finding Microphallus Human Phenotype Ontology C0240701 HP:0030260 16 Feb 2016 Finding Microphthalmia Human Phenotype Ontology C0026010 HP:0000568 19 Mar 2018 Disease Microphthalmia and cataract 15 Mar 2018 Disease MICROPHTHALMIA AND/OR COLOBOMA WITH DEVELOPMENTAL DELAY CN262161 31 Jul 2019 Disease Microphthalmia associated with colobomatous cyst 16 Feb 2016 Disease Microphthalmia camptodactyly mental retardation 16 Feb 2016 Disease Microphthalmia cataract CN235151 24 Jul 2019 Disease Microphthalmia cataract, partial aniridia CN235143 16 Feb 2016 Finding Microphthalmia Cataract, Sclerocornea CN235152 16 Feb 2016 Finding Microphthalmia diaphragmatic hernia Fallot 16 Feb 2016 Disease Microphthalmia mental deficiency 16 Feb 2016 Disease Microphthalmia microtia fetal akinesia C2931224 16 Feb 2016 Disease Microphthalmia Sclerocornea CN235160 16 Feb 2016 Finding Microphthalmia Sclerocornea, Hypospadias, ectopic kidney CN235157 16 Feb 2016 Finding Microphthalmia sclerocornea, psychomotor delay CN235156 16 Feb 2016 Finding Microphthalmia syndromic 9 C1832661 601186 16 Feb 2016 Disease Microphthalmia with brain and digit anomalies MONDO C1864689 MONDO:0011936 607932 17 Apr 2020 Disease Microphthalmia with coloboma 3 CN260121 20 Jun 2019 Disease Microphthalmia with Coloboma 5 CN230144 16 Feb 2016 Disease Microphthalmia with coloboma 6 CN260123 20 Jun 2019 Disease Microphthalmia with coloboma 6, digenic CN260122 20 Jun 2019 Disease Microphthalmia with cyst, bilateral facial clefts, and limb anomalies NCBI curation C1843492 607597 16 Feb 2016 Disease Microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies NCBI curation C1968637 251700 16 Feb 2016 Disease Microphthalmia with limb anomalies MONDO C0599973 MONDO:0008800 206920 22 Apr 2020 Disease Microphthalmia, Cataract, Peters anomaly CN235146 16 Feb 2016 Finding Microphthalmia, cataracts, and iris abnormalities NCBI curation C1864722 16 Feb 2016 Disease Microphthalmia, isolated 1 NCBI curation C1855052 251600 16 Feb 2016 Disease Microphthalmia, isolated 2 NCBI curation C1864720 610093 16 Feb 2016 Disease Microphthalmia, isolated 3 NCBI curation C1970237 611038 16 Feb 2016 Disease Microphthalmia, isolated 4 NCBI curation C2751307 613094 16 Feb 2016 Disease Microphthalmia, isolated 5 NCBI curation C1970236 611040 16 Feb 2016 Disease Microphthalmia, isolated 6 NCBI curation C3150757 613517 16 Feb 2016 Disease Microphthalmia, isolated 7 NCBI curation C3150969 613704 16 Feb 2016 Disease Microphthalmia, isolated 8 NCBI curation C3554524 615113 16 Feb 2016 Disease Microphthalmia, isolated, with cataract MONDO MONDO:0000169 17 Apr 2020 Disease Microphthalmia, isolated, with coloboma OMIM phenotypic series CN228419 PS300345 16 Feb 2016 Disease Microphthalmia, isolated, with coloboma 1 NCBI curation C1845877 300345 16 Feb 2016 Disease Microphthalmia, isolated, with coloboma 10 NCBI curation C4225330 616428 16 Feb 2016 Disease Microphthalmia, isolated, with coloboma 2 NCBI curation C1854018 605738 16 Feb 2016 Disease Microphthalmia, isolated, with coloboma 3 NCBI curation C1864721 610092 16 Feb 2016 Disease Microphthalmia, isolated, with coloboma 4 NCBI curation C1855053 251505 16 Feb 2016 Disease Microphthalmia, isolated, with coloboma 5 NCBI curation C1968843 611638 16 Feb 2016 Disease Microphthalmia, isolated, with coloboma 6 NCBI curation C3150968 613703 16 Feb 2016 Disease Microphthalmia, isolated, with coloboma 7 NCBI curation C3281027 614497 16 Feb 2016 Disease Microphthalmia, isolated, with coloboma 8 NCBI curation C3540845 16 Feb 2016 Disease Microphthalmia, isolated, with coloboma 9 NCBI curation C3554592 615145 16 Feb 2016 Disease Microphthalmia, isolated, with corectopia C1834918 156900 16 Feb 2016 Disease Microphthalmia, IUGR, Sexual ambiguity, arthrogryposis, psychomotor delay CN235142 16 Feb 2016 Finding Microphthalmia, micrognathia, microglossia, and small teeth. Bilateral basal ganglia calcification and cerebellar calcification on brain MRI CN186929 16 Feb 2016 Finding Microphthalmia, psychomotor delay CN235155 16 Feb 2016 Finding Microphthalmia, syndromic 11 NCBI curation C3553077 614402 16 Feb 2016 Disease Microphthalmia, syndromic 12 NCBI curation C3809803 615524 16 Feb 2016 Disease Microphthalmia, syndromic 13 NCBI curation C3806742 300915 16 Feb 2016 Disease MICROPHTHALMIA, SYNDROMIC 15 CN262160 31 Jul 2019 Disease Microphthalmia-ankyloblepharon-intellectual disability syndrome MONDO C1844948 MONDO:0010527 301590 17 Apr 2020 Disease Microphthalmia-brain atrophy syndrome MONDO C1970013 MONDO:0012638 611222 17 Apr 2020 Disease Microphthalmia/coloboma and skeletal dysplasia syndrome NCBI curation C4014540 615877 20 Jun 2017 Disease Microprolactinoma Human Phenotype Ontology C0344452 HP:0012341 16 Feb 2016 Finding micropthalmia CN238753 19 Oct 2016 Finding Microretrognathia Human Phenotype Ontology C1839546 HP:0000308 16 Feb 2016 Finding Microsaccadic pursuit Human Phenotype Ontology C1843892 HP:0007792 16 Feb 2016 Finding Microscopic breast papilloma MONDO C1335390 MONDO:0004506 17 Apr 2020 Disease Microscopic colitis MONDO C0400821 MONDO:0000702 17 Apr 2020 Disease Microscopic hematuria Human Phenotype Ontology C0239937 HP:0002907 16 Feb 2016 Finding Microscopic nephrocalcinosis Human Phenotype Ontology C0403474 HP:0008327 16 Feb 2016 Finding Microscopic polyangiitis C2347126 16 Feb 2016 Disease Microspherocytosis Human Phenotype Ontology C4025285 HP:0004835 16 Feb 2016 Finding Microspherophakia Human Phenotype Ontology C3538951 HP:0030961 251750 16 Feb 2016 Disease Microspherophakia with hernia C1834881 157150 16 Feb 2016 Disease Microspherophakia-metaphyseal dysplasia syndrome MONDO C1834880 MONDO:0007998 157151 17 Apr 2020 Disease Microsporidiosis C0085407 16 Feb 2016 Infectious disease Microtia Human Phenotype Ontology C0152423 HP:0008551 16 Feb 2016 Finding Microtia eye coloboma and imperforation of the nasolacrimal duct 16 Feb 2016 Disease Microtia with meatal atresia and conductive deafness MONDO C2931502 MONDO:0009634 251800 17 Apr 2020 Disease Microtia with nasolacrimal duct imperforation and eye coloboma NCBI curation C2678482 611863 16 Feb 2016 Disease Microtia with or without hearing impairment NCBI curation C3808166 16 Feb 2016 Disease MICROTIA WITHOUT HEARING IMPAIRMENT 22 Apr 2018 Disease Microtia, first degree Human Phenotype Ontology C4021175 HP:0011266 16 Feb 2016 Finding Microtia, hearing impairment, and cleft palate NCBI curation C2676772 612290 16 Feb 2016 Disease Microtia, meatal atresia and conductive deafness 16 Feb 2016 Disease Microtia, second degree Human Phenotype Ontology C4020797 HP:0008569 16 Feb 2016 Finding Microtia, third degree Human Phenotype Ontology C4021174 HP:0011267 16 Feb 2016 Finding Microtia-Anotia C1833486 600674 16 Feb 2016 Disease Microtriplication 11q24.1 MONDO C4749373 MONDO:0017335 17 Apr 2020 Disease Microvascular complications of diabetes OMIM phenotypic series CN357508 PS603933 31 Jul 2017 Disease Microvascular complications of diabetes 1 NCBI curation C2676832 603933 16 Feb 2016 Disease Microvascular complications of diabetes 2 NCBI curation C2675471 612623 16 Feb 2016 Disease Microvascular complications of diabetes 3 NCBI curation C2675470 612624 16 Feb 2016 Disease Microvascular complications of diabetes 4 NCBI curation C2675112 612628 16 Feb 2016 Disease Microvascular complications of diabetes 5 NCBI curation C2674665 612633 16 Feb 2016 Disease Microvascular complications of diabetes 6 NCBI curation C2675128 612634 16 Feb 2016 Disease Microvascular complications of diabetes 7 NCBI curation C2673520 612635 16 Feb 2016 Disease Microvascular complications of diabetes, protection against NCBI curation C4017829 16 Feb 2016 Disease Microvascular complications of diabetes, susceptibility to NCBI curation C2676833 16 Feb 2016 Disease Microvesicular hepatic steatosis Human Phenotype Ontology C1850415 HP:0001414 16 Feb 2016 Finding Micturation-induced seizures MONDO CN200059 MONDO:0015649 17 Apr 2020 Disease Mid-dermal elastolysis MONDO C4728147 MONDO:0016449 17 Apr 2020 Disease mid-face hypoplasia 22 Aug 2019 Finding Mid-frequency hearing loss Human Phenotype Ontology C4022723 HP:0012781 16 Feb 2016 Finding Midaortic syndrome NCBI curation C3805239 29 Aug 2019 Disease Midbrain disease MONDO C0521655 MONDO:0044997 17 Apr 2020 Disease Midclavicular aplasia Human Phenotype Ontology C1844529 HP:0006638 16 Feb 2016 Finding Midclavicular hypoplasia Human Phenotype Ontology C1844530 HP:0006608 16 Feb 2016 Finding Middle cerebral artery calcification Human Phenotype Ontology C4531208 HP:0031311 04 Apr 2018 Finding Middle cerebral artery infarction MONDO C0740392 MONDO:0006857 17 Apr 2020 Disease Middle cerebral artery stenosis Human Phenotype Ontology C1504568 HP:0012493 16 Feb 2016 Finding Middle cranial fossa meningioma MONDO C1334757 MONDO:0003121 17 Apr 2020 Disease Middle ear adenocarcinoma MONDO C1334758 MONDO:0003189 17 Apr 2020 Disease Middle ear adenoma MONDO C1334759 MONDO:0003423 17 Apr 2020 Disease Middle ear anomaly MONDO C0266599 MONDO:0015604 17 Apr 2020 Disease Middle ear cancer MONDO MONDO:0003275 17 Apr 2020 Disease Middle ear carcinoma MONDO C1334760 MONDO:0003190 17 Apr 2020 Disease Middle ear cholesterol granuloma MONDO C0155492 MONDO:0001141 17 Apr 2020 Disease Middle ear disease MONDO C0271428 MONDO:0003276 17 Apr 2020 Disease Middle ear squamous cell carcinoma MONDO C1334762 MONDO:0006303 17 Apr 2020 Disease Middle East respiratory syndrome MONDO C3694279 MONDO:0100116 04 Jun 2020 Infectious disease middle face hypoplasia 22 Oct 2019 Finding Middle lobe syndrome MONDO C0026069 MONDO:0005847 17 Apr 2020 Disease Midface capillary hemangioma Human Phenotype Ontology C1849377 HP:0007452 16 Feb 2016 Finding Midface dysplasia MONDO MONDO:0000446 17 Apr 2020 Disease Midface hypoplasia C1853242 27 Jan 2017 Finding Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis NCBI curation C4310810 300990 20 Jun 2017 Disease Midface hypoplasia, obesity, developmental delay, and neonatal hypotonia NCBI curation C1837730 608624 16 Feb 2016 Disease Midface retrusion Human Phenotype Ontology C2673410 HP:0011800 02 Apr 2017 Finding midfacial hypoplasia 22 Aug 2019 Finding Midfrontal capillary hemangioma Human Phenotype Ontology C1859339 HP:0007466 16 Feb 2016 Finding Midgut malrotation Human Phenotype Ontology C1849706 HP:0005211 16 Feb 2016 Finding Midline brain calcifications Human Phenotype Ontology C1855487 HP:0007045 16 Feb 2016 Finding Midline central nervous system lipomas Human Phenotype Ontology C4024973 HP:0006866 16 Feb 2016 Finding Midline cerebral malformation MONDO CN227078 MONDO:0017090 17 Apr 2020 Disease Midline cervical cleft MONDO C1274890 MONDO:0015419 17 Apr 2020 Disease Midline cleft of lower lip 16 Feb 2016 Disease midline cleft tongue CN238727 19 Oct 2016 Finding Midline cystocele MONDO C1456248 MONDO:0001886 17 Apr 2020 Disease Midline defect of mandible Human Phenotype Ontology C4023714 HP:0010753 16 Feb 2016 Finding Midline defect of the nose Human Phenotype Ontology C4025411 HP:0004122 16 Feb 2016 Finding Midline defects autosomal type 16 Feb 2016 Disease Midline defects recessive type 16 Feb 2016 Disease MIDLINE DEFECTS, X-LINKED 16 Feb 2016 Disease Midline developmental field defects 16 Feb 2016 Disease Midline direction of ventricular apex Human Phenotype Ontology C4023273 HP:0011602 16 Feb 2016 Finding Midline facial capillary hemangioma Human Phenotype Ontology C1840310 HP:0007601 16 Feb 2016 Finding Midline facial cleft Human Phenotype Ontology C4022007 HP:0100629 16 Feb 2016 Finding Midline field defects 16 Feb 2016 Disease Midline interhemispheric variant of holoprosencephaly MONDO CN206692 MONDO:0019758 17 Apr 2020 Disease Midline lethal granuloma 16 Feb 2016 Disease Midline malformations, multiple, with limb abnormalities and hypopituitarism MONDO C1832874 MONDO:0010980 601016 17 Apr 2020 Disease Midline nasal groove Human Phenotype Ontology C4025412 HP:0004112 16 Feb 2016 Finding Midline notch of upper alveolar ridge Human Phenotype Ontology C1851853 HP:0009084 16 Feb 2016 Finding Midline sinus of philtrum Human Phenotype Ontology C4021116 HP:0011828 16 Feb 2016 Finding Midline skin dimples over anterior/posterior fontanelles Human Phenotype Ontology C1855690 HP:0005498 16 Feb 2016 Finding Midnasal atresia Human Phenotype Ontology C4023762 HP:0010643 16 Feb 2016 Finding Midnasal stenosis Human Phenotype Ontology C1840238 HP:0010644 16 Feb 2016 Finding Midphalangeal hair C1834876 157200 16 Feb 2016 Disease Midshaft hypospadias Human Phenotype Ontology C4022708 HP:0012854 16 Feb 2016 Finding Mietens syndrome C0265249 249600 16 Feb 2016 Disease Migraine Human Phenotype Ontology C3887485 HP:0002076 157300 16 Feb 2016 Disease Migraine disorder MONDO MONDO:0005277 17 Apr 2020 Disease Migraine with aura Human Phenotype Ontology C0154723 HP:0002077 16 Feb 2016 Finding Migraine with aura 7 NCBI curation C1836670 609179 16 Feb 2016 Disease Migraine with aura 9 NCBI curation C1864772 609670 16 Feb 2016 Disease Migraine with brainstem aura MONDO MONDO:0043219 17 Apr 2020 Disease Migraine with or without aura 10 NCBI curation C1857752 610208 16 Feb 2016 Disease Migraine with or without aura 11 NCBI curation C1857751 610209 16 Feb 2016 Disease Migraine with or without aura 3 NCBI curation C1843782 607498 16 Feb 2016 Disease Migraine with or without aura 5 NCBI curation C1843771 607508 16 Feb 2016 Disease Migraine with or without aura 6 NCBI curation C1843765 607516 16 Feb 2016 Disease Migraine with or without aura 8 NCBI curation C1835968 609570 16 Feb 2016 Disease Migraine with or without aura, susceptibility to, 2 NCBI curation C1848066 300125 24 Aug 2016 Disease Migraine without aura Human Phenotype Ontology C0338480 HP:0002083 16 Feb 2016 Finding Migraine without aura 4 NCBI curation C1843773 607501 16 Feb 2016 Disease Migraine without aura, susceptibility to NCBI curation 16 Feb 2016 Disease migraine withoutut aura 05 Sep 2019 Finding Migraine, familial basilar NCBI curation C1865323 16 Feb 2016 Disease Migraine, familial hemiplegic, 4 NCBI curation 16 Feb 2016 Disease Migraine, resistance to NCBI curation C4016030 16 Feb 2016 Disease Migraine, sporadic hemiplegic NCBI curation C1832903 16 Feb 2016 Disease Migraine, sporadic hemiplegic, with progressive cerebellar ataxia NCBI curation C1832885 16 Feb 2016 Disease Migraine, susceptibility to NCBI curation 16 Feb 2016 Disease Migraine, with or without aura 12 NCBI curation C2673676 611706 16 Feb 2016 Disease Migraine, with or without aura 13 NCBI curation C3150908 613656 16 Feb 2016 Disease migraines 05 Sep 2019 Finding Migrating partial seizures in infancy C3494976 15 Oct 2019 Disease Mikati-Najjar-Sahli syndrome MONDO C0796064 MONDO:0016818 22 Apr 2020 Disease Mikulicz disease 16 Feb 2016 Disease Mild 18 Jan 2019 Finding Mild assymetric left ventricular hypertrophy CN235478 11 Mar 2016 Finding mild ataxia CN242258 26 Apr 2017 Finding mild axonal motor neuropathy CN196732 16 Feb 2016 Finding Mild brain atrophy CN232346 16 Feb 2016 Finding mild cerbral atrophy 05 Sep 2019 Finding mild cerebellar hypoplasia 18 Jan 2019 Finding Mild cerebral atrophy CN234858 16 Feb 2016 Finding Mild clinodactyly of 5th digit, bilaterally 23 Jan 2020 Finding mild cognitive disorder C1270972 18 Jan 2019 Finding mild cognitive impairment 10 Jan 2020 Finding Mild conductive hearing impairment Human Phenotype Ontology C4021536 HP:0008598 16 Feb 2016 Finding Mild deep palmar and plantar creases CN235243 19 Feb 2016 Finding Mild developmental delay C1848735 11 Mar 2016 Finding Mild downslanting palpebral fissures 23 Jan 2020 Finding Mild dysmorphic ears CN236320 13 Apr 2016 Finding mild dysmorphic features C2749190 07 Apr 2016 Finding Mild eczema C1848959 16 Mar 2016 Finding mild effusions in the elbows 13 Feb 2020 Finding Mild expressive language delay Human Phenotype Ontology C3532934 HP:0011346 16 Feb 2016 Finding Mild facial dysmorphism 18 Apr 2019 Finding Mild fetal ventriculomegaly Human Phenotype Ontology C4023628 HP:0010952 16 Feb 2016 Finding Mild global developmental delay Human Phenotype Ontology C4012968 HP:0011342 16 Feb 2016 Finding Mild hearing impairment Human Phenotype Ontology C4022758 HP:0012712 16 Feb 2016 Finding Mild heart failure MONDO MONDO:0005255 17 Apr 2020 Disease Mild hemophilia A MONDO C0272324 MONDO:0015721 28 May 2020 Disease Mild hemophilia B MONDO CN200229 MONDO:0015717 17 Apr 2020 Disease mild hepatomegaly 13 Feb 2020 Finding Mild Hepatomegaly with peripancreatic nodus CN236800 24 Jun 2016 Finding Mild hyperphenylalaninemia MONDO CN206004 MONDO:0019335 17 Apr 2020 Disease mild intellectual impairment 13 Feb 2020 Finding Mild intrauterine growth retardation Human Phenotype Ontology C1840006 HP:0008883 16 Feb 2016 Finding Mild joint laxity 23 Jan 2020 Finding mild kyphoscoliosis 13 Feb 2020 Finding mild language delay 13 Feb 2020 Finding Mild late-onset parkinsonism CN868258 16 Mar 2018 Disease Mild liver congestion CN239813 30 Dec 2016 Disease Mild masseter myotonia 18 May 2018 Finding Mild microcephaly Human Phenotype Ontology C1836806 HP:0040196 16 Feb 2016 Finding Mild micrognathia 23 Jan 2020 Finding Mild microretrognatia 23 Jan 2020 Finding Mild muscular wasting CN236734 09 Jun 2016 Finding Mild neurosensory hearing impairment Human Phenotype Ontology C4021538 HP:0008587 16 Feb 2016 Finding Mild non-PKU hyperphenylalanemia NCBI curation C2678416 16 Feb 2016 Disease mild nystagmus 13 Feb 2020 Finding Mild obesity CN228310 16 Feb 2016 Finding mild optic nerve hypoplasia 05 Sep 2019 Finding Mild pectus carinatum CN240361 27 Jan 2017 Finding Mild pectus excavatum 23 Jan 2020 Finding Mild phenylketonuria MONDO CN205855 MONDO:0019258 17 Apr 2020 Disease Mild phosphoribosylpyrophosphate synthetase superactivity MONDO CN237443 MONDO:0018463 17 Apr 2020 Disease Mild postnatal growth retardation Human Phenotype Ontology C1835580 HP:0001530 16 Feb 2016 Finding Mild pre-eclampsia MONDO C0269658 MONDO:0001072 17 Apr 2020 Disease Mild proteinuria Human Phenotype Ontology C4022832 HP:0012595 16 Feb 2016 Finding mild pulmonic stenosis 13 Oct 2017 Finding Mild receptive language delay Human Phenotype Ontology C3532948 HP:0011350 16 Feb 2016 Finding Mild sagging of lateral lower eyelid 23 Jan 2020 Finding mild sensory-motor peripheral neuropathy CN196731 16 Feb 2016 Finding Mild short stature Human Phenotype Ontology C3150077 HP:0003502 16 Feb 2016 Finding Mild splenomegaly C1865190 19 Oct 2016 Finding mild strabismus 05 Sep 2018 Finding Mild ulnar deviation of wrist and fingers CN235244 19 Feb 2016 Finding mild waxy disc pallor 19 Mar 2020 Finding mild-moderate hearing loss CN228811 16 Feb 2016 Finding mild-moderate intellectual disability CN234771 16 Feb 2016 Finding Mildly elevated creatine phosphokinase Human Phenotype Ontology C1850309 HP:0008180 16 Feb 2016 Finding Mildly reduced ejection fraction Human Phenotype Ontology C4022793 HP:0012663 16 Feb 2016 Finding Mildly thick right earlobe 23 Jan 2020 Finding Miles-Carpenter syndrome MONDO C1839735 MONDO:0010666 30 May 2020 Disease Milia Human Phenotype Ontology C0345996 HP:0001056 16 Feb 2016 Finding Miliaria MONDO C0026113 MONDO:0006580 17 Apr 2020 Disease Miliaria rubra MONDO MONDO:0006581 17 Apr 2020 Disease Miliary tuberculosis MONDO C0041321 MONDO:0005848 04 Jun 2020 Infectious disease Milk allergic reaction MONDO C0079840 MONDO:0005849 17 Apr 2020 Disease Milker's nodule MONDO C0026143 MONDO:0005850 04 Jun 2020 Infectious disease Miller Dieker syndrome C0265219 247200 16 Feb 2016 Disease Miller Fisher syndrome C0393799 16 Feb 2016 Disease Miller syndrome NCBI curation C0265257 263750 16 Feb 2016 Disease Mills syndrome MONDO C5191669 MONDO:0035892 17 Apr 2020 Disease Milner-Khallouf-Gibson syndrome MONDO C2931503 MONDO:0023809 22 Apr 2020 Disease Minamata disease MONDO MONDO:0024251 17 Apr 2020 Disease Mineral metabolism disease MONDO MONDO:0000226 17 Apr 2020 Disease Mineralocorticoid deficiency, isolated NCBI curation C2749175 16 Feb 2016 Disease Minicore myopathy Human Phenotype Ontology C1850674 HP:0003789 255320 19 Mar 2018 Disease Minicore myopathy, moderate, with hand involvement NCBI curation 16 Feb 2016 Disease Minifascicle formation Human Phenotype Ontology C4476904 HP:0031001 04 Apr 2018 Finding Minimal change disease NCBI curation C0027721 16 Feb 2016 Disease Minimal change glomerulonephritis Human Phenotype Ontology C1704320 HP:0012579 16 Feb 2016 Finding Minimal pigment oculocutaneous albinism type 1 MONDO CN204521 MONDO:0018136 17 Apr 2020 Disease Minimal subcutaneous fat Human Phenotype Ontology C1859442 HP:0003717 16 Feb 2016 Finding Minimally invasive lung adenocarcinoma MONDO MONDO:0004991 17 Apr 2020 Disease MINISATELLITE 33.15 OMIM CN263291 157570 157570 23 Feb 2020 Disease Mink viral enteritis MONDO C1720999 MONDO:0025505 04 Jun 2020 Infectious disease Minor salivary gland adenocarcinoma MONDO C1334768 MONDO:0006304 17 Apr 2020 Disease Minor salivary gland adenoid cystic carcinoma MONDO C1334769 MONDO:0045068 17 Apr 2020 Disease Minor salivary gland carcinoma MONDO C1334771 MONDO:0045069 17 Apr 2020 Disease Minor skeletal anomalies CN231475 16 Feb 2016 Finding Minor strokes 29 Aug 2018 Finding Minor vestibular glands adenoma MONDO C1510791 MONDO:0002197 17 Apr 2020 Disease Miosis Human Phenotype Ontology C0026205 HP:0000616 16 Feb 2016 Finding Mirabegron Response CN282564 17 Jun 2020 Pharmacological response Mirage syndrome NCBI curation C4284088 617053 24 Aug 2016 Disease Mirizzi's syndrome C0267878 16 Feb 2016 Disease Mirror agnosia MONDO MONDO:0000674 17 Apr 2020 Disease Mirror image foot polydactyly Human Phenotype Ontology C4021238 HP:0010691 16 Feb 2016 Finding Mirror image hand polydactyly Human Phenotype Ontology C4021239 HP:0010690 16 Feb 2016 Finding Mirror movements OMIM phenotypic series CN238805 PS157600 23 Oct 2016 Disease Mirror movements 1 NCBI curation C1834870 157600 23 Oct 2016 Disease Mirror movements 2 NCBI curation C3281089 614508 16 Feb 2016 Disease Mirror movements 3 NCBI curation C4015124 616059 16 Feb 2016 Disease MIRROR MOVEMENTS 4 OMIM C4748869 618264 618264 10 Jan 2019 Disease Mirror polydactyly segmentation and limbs defects 16 Feb 2016 Disease Mirror polydactyly-vertebral segmentation-limbs defects syndrome MONDO CN203387 MONDO:0017583 17 Apr 2020 Disease Mirtazapine response NCBI curation CN221253 16 Feb 2016 Pharmacological response mirtazapine response - Efficacy PharmGKB CN236566 1183617724 18 May 2016 Pharmacological response Misalignment of incisors Human Phenotype Ontology C4023556 HP:0011062 16 Feb 2016 Finding Misalignment of teeth Human Phenotype Ontology C1852504 HP:0000692 16 Feb 2016 Finding Miscarriage in second trimester 26 Jul 2019 Finding Miscellaneous movement disorder due to genetic neurodegenerative disease MONDO CN203549 MONDO:0017662 17 Apr 2020 Disease Miscellaneous movement disorder due to neurodegenerative disease MONDO CN203537 MONDO:0017641 17 Apr 2020 Disease Misophonia Human Phenotype Ontology C4324623 HP:0025113 02 Apr 2017 Finding missed milestones 27 Apr 2018 Finding Missing ribs Human Phenotype Ontology C0426816 HP:0000921 16 Feb 2016 Finding MIT family translocation renal cell carcinoma MONDO C4518356 MONDO:0017886 17 Apr 2020 Disease Mitchell-Riley syndrome NCBI curation C2748662 615710 16 Feb 2016 Disease Mite infestation MONDO C0026229 MONDO:0004389 04 Jun 2020 Infectious disease mitochondrial 05 Sep 2019 Finding mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency NCBI curation C2751532 605911 16 Feb 2016 Disease Mitochondrial complex 1 deficiency, mitochondrial type 1 MONDO C4746992 MONDO:0027068 500014 27 May 2020 Disease Mitochondrial complex 1 deficiency, nuclear type 10 MONDO C4748768 MONDO:0032616 618233 27 May 2020 Disease Mitochondrial complex 1 deficiency, nuclear type 11 MONDO C4748769 MONDO:0032617 618234 27 May 2020 Disease Mitochondrial complex 1 deficiency, nuclear type 12 MONDO C4746984 MONDO:0026720 301020 27 May 2020 Disease Mitochondrial complex 1 deficiency, nuclear type 13 MONDO C4748770 MONDO:0032618 618235 27 May 2020 Disease Mitochondrial complex 1 deficiency, nuclear type 14 MONDO C4748777 MONDO:0032619 618236 27 May 2020 Disease Mitochondrial complex 1 deficiency, nuclear type 15 MONDO C4748778 MONDO:0032620 618237 27 May 2020 Disease Mitochondrial complex 1 deficiency, nuclear type 16 MONDO C4748785 MONDO:0032621 618238 27 May 2020 Disease Mitochondrial complex 1 deficiency, nuclear type 17 MONDO C4748786 MONDO:0032622 618239 27 May 2020 Disease Mitochondrial complex 1 deficiency, nuclear type 18 MONDO C4748790 MONDO:0032623 618240 27 May 2020 Disease Mitochondrial complex 1 deficiency, nuclear type 19 MONDO C4748791 MONDO:0032624 618241 27 May 2020 Disease Mitochondrial complex 1 deficiency, nuclear type 2 MONDO C4748737 MONDO:0032606 618222 27 May 2020 Disease Mitochondrial complex 1 deficiency, nuclear type 21 MONDO C4748792 MONDO:0032625 618242 27 May 2020 Disease Mitochondrial complex 1 deficiency, nuclear type 22 MONDO C4748796 MONDO:0032626 618243 27 May 2020 Disease Mitochondrial complex 1 deficiency, nuclear type 23 MONDO C4748799 MONDO:0032627 618244 27 May 2020 Disease Mitochondrial complex 1 deficiency, nuclear type 24 MONDO C4748803 MONDO:0032628 618245 27 May 2020 Disease Mitochondrial complex 1 deficiency, nuclear type 25 MONDO C4748806 MONDO:0032629 618246 27 May 2020 Disease Mitochondrial complex 1 deficiency, nuclear type 26 MONDO C4748809 MONDO:0032630 618247 27 May 2020 Disease Mitochondrial complex 1 deficiency, nuclear type 27 MONDO C4748826 MONDO:0032631 618248 27 May 2020 Disease Mitochondrial complex 1 deficiency, nuclear type 28 MONDO C4748827 MONDO:0032632 618249 27 May 2020 Disease Mitochondrial complex 1 deficiency, nuclear type 29 MONDO C4748830 MONDO:0032633 618250 27 May 2020 Disease Mitochondrial complex 1 deficiency, nuclear type 3 MONDO C4748752 MONDO:0032608 618224 27 May 2020 Disease Mitochondrial complex 1 deficiency, nuclear type 30 MONDO C4746985 MONDO:0026721 301021 27 May 2020 Disease Mitochondrial complex 1 deficiency, nuclear type 31 MONDO C4748838 MONDO:0032634 618251 27 May 2020 Disease Mitochondrial complex 1 deficiency, nuclear type 32 MONDO C4748839 MONDO:0032635 618252 27 May 2020 Disease Mitochondrial complex 1 deficiency, nuclear type 33 MONDO C4748840 MONDO:0032636 618253 27 May 2020 Disease Mitochondrial complex 1 deficiency, nuclear type 34 MONDO CN263285 MONDO:0032910 618776 27 May 2020 Disease Mitochondrial complex 1 deficiency, nuclear type 4 MONDO C4748753 MONDO:0032609 618225 27 May 2020 Disease Mitochondrial complex 1 deficiency, nuclear type 5 MONDO C4748754 MONDO:0032610 618226 27 May 2020 Disease Mitochondrial complex 1 deficiency, nuclear type 6 MONDO C4748759 MONDO:0032611 618228 27 May 2020 Disease Mitochondrial complex 1 deficiency, nuclear type 7 MONDO C4748760 MONDO:0032612 618229 27 May 2020 Disease Mitochondrial complex 1 deficiency, nuclear type 8 MONDO C4748766 MONDO:0032613 618230 27 May 2020 Disease Mitochondrial complex 1 deficiency, nuclear type 9 MONDO C4748767 MONDO:0032615 618232 27 May 2020 Disease Mitochondrial complex 3 deficiency, nuclear type 10 MONDO CN263279 MONDO:0032909 618775 27 May 2020 Disease Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 MONDO C4748269 MONDO:0020858 618120 17 Apr 2020 Disease Mitochondrial complex 5 (atp synthase) deficiency, nuclear type 6 MONDO C5231461 MONDO:0032869 618683 27 May 2020 Disease Mitochondrial complex deficiency MONDO MONDO:0000066 17 Apr 2020 Disease Mitochondrial complex I deficiency CN031990 16 Feb 2016 Disease MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 2 15 Dec 2018 Disease MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3 15 Dec 2018 Disease Mitochondrial complex I deficiency, nuclear type OMIM phenotypic series CN263238 PS252010 02 Feb 2020 Disease Mitochondrial complex I deficiency, nuclear type 1 NCBI curation C1838979 252010 17 Dec 2018 Disease Mitochondrial complex II deficiency C1855008 252011 16 Feb 2016 Disease Mitochondrial complex III deficiency C1852372 28 Dec 2019 Disease Mitochondrial complex III deficiency, nuclear type OMIM phenotypic series CN263088 PS124000 28 Dec 2019 Disease Mitochondrial complex III deficiency, nuclear type 1 NCBI curation C3541471 124000 28 Dec 2019 Disease Mitochondrial complex III deficiency, nuclear type 2 NCBI curation C3554605 615157 16 Feb 2016 Disease Mitochondrial complex III deficiency, nuclear type 3 NCBI curation C3554606 615158 16 Feb 2016 Disease Mitochondrial complex III deficiency, nuclear type 4 NCBI curation C3554607 615159 16 Feb 2016 Disease Mitochondrial complex III deficiency, nuclear type 5 NCBI curation C3554608 615160 16 Feb 2016 Disease Mitochondrial complex III deficiency, nuclear type 6 NCBI curation C3809553 615453 26 May 2016 Disease Mitochondrial complex III deficiency, nuclear type 7 NCBI curation C4014408 615824 19 Oct 2018 Disease Mitochondrial complex III deficiency, nuclear type 8 NCBI curation C4014440 615838 01 Dec 2018 Disease Mitochondrial complex III deficiency, nuclear type 9 NCBI curation C4015253 616111 26 May 2016 Disease Mitochondrial complex IV deficiency NCBI curation C0268237 220110 04 Apr 2020 Disease Mitochondrial complex IV deficiency with recurrent myoglobinuria NCBI curation C4017626 17 Jul 2016 Disease Mitochondrial complex v (atp synthase) deficiency, mitochondrial type 1 NCBI curation C3275684 500015 24 Aug 2016 Disease Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type CN239153 09 Aug 2018 Disease Mitochondrial complex v (atp synthase) deficiency, nuclear type 4 NCBI curation C3808899 615228 24 Aug 2016 Disease Mitochondrial cytochrome c oxidase deficiency NCBI curation C4016626 16 Feb 2016 Disease Mitochondrial cytopathy NCBI curation C2931928 02 Jan 2017 Disease Mitochondrial depletion Human Phenotype Ontology C4022659 HP:0030059 16 Feb 2016 Finding Mitochondrial disease with dilated cardiomyopathy MONDO CN201166 MONDO:0016335 17 Apr 2020 Disease Mitochondrial disease with epilepsy MONDO CN201331 MONDO:0016402 17 Apr 2020 Disease Mitochondrial disease with eye involvement MONDO MONDO:0020265 17 Apr 2020 Disease Mitochondrial disease with hypertrophic cardiomyopathy MONDO CN201160 MONDO:0016327 17 Apr 2020 Disease Mitochondrial disease with peripheral neuropathy MONDO CN201332 MONDO:0016403 17 Apr 2020 Disease Mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia 16 Feb 2016 Disease Mitochondrial diseases NCBI curation C0751651 16 Feb 2016 Disease mitochondrial disorder 05 Sep 2019 Finding Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes MONDO CN227185 MONDO:0017718 17 Apr 2020 Disease Mitochondrial disorder due to a defect in mitochondrial protein synthesis MONDO C4700505 MONDO:0018157 17 Apr 2020 Disease mitochondrial disorder with lactic acidosis CN232681 16 Feb 2016 Finding Mitochondrial DNA Deletion Syndromes CN043632 16 Feb 2016 Disease Mitochondrial DNA depletion syndrome OMIM phenotypic series C0342782 PS603041 08 Apr 2018 Disease Mitochondrial DNA depletion syndrome 1 (MNGIE type) NCBI curation C4551995 603041 26 Aug 2016 Disease Mitochondrial DNA depletion syndrome 11 NCBI curation C3554462 615084 16 Feb 2016 Disease Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD CN260118 20 Jun 2019 Disease Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant NCBI curation C4310676 617184 20 Jun 2017 Disease Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR CN260119 20 Jun 2019 Disease Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive NCBI curation C3809443 615418 20 Jun 2017 Disease Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) NCBI curation C3809592 615471 16 Feb 2016 Disease Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) NCBI curation C4225163 616896 24 Aug 2016 Disease Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) CN260120 20 Jun 2019 Disease Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) NCBI curation C4310690 617156 20 Jun 2017 Disease MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) OMIM C5193142 618528 618528 14 Aug 2019 Disease MITOCHONDRIAL DNA DEPLETION SYNDROME 17 OMIM C5231412 618567 618567 06 Sep 2019 Disease MITOCHONDRIAL DNA DEPLETION SYNDROME 18 OMIM CN263372 618811 618811 20 Mar 2020 Disease Mitochondrial DNA depletion syndrome 2 NCBI curation C3149750 609560 16 Feb 2016 Disease MITOCHONDRIAL DNA DEPLETION SYNDROME 3 20 Aug 2016 Disease Mitochondrial DNA depletion syndrome 4B, MNGIE type NCBI curation C3150914 613662 16 Feb 2016 Disease Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) NCBI curation C2749864 612073 16 Feb 2016 Disease Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) NCBI curation C1849096 271245 16 Feb 2016 Disease Mitochondrial DNA depletion syndrome 8B (MNGIE type) NCBI curation C3150172 16 Feb 2016 Disease Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) NCBI curation C3151476 245400 16 Feb 2016 Disease Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form C4707428 16 Feb 2016 Disease Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy NCBI curation C2749861 612075 16 Feb 2016 Disease Mitochondrial DNA depletion syndrome, hepatocerebral form NCBI curation CN069134 16 Feb 2016 Disease Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Orphanet C5191055 ORPHA279934 08 Apr 2018 Disease Mitochondrial DNA depletion syndrome, hepatocerebrorenal form MONDO C5190602 MONDO:0018197 17 Apr 2020 Disease Mitochondrial DNA maintenance syndrome MONDO CN204491 MONDO:0018121 17 Apr 2020 Disease Mitochondrial DNA-Associated Leigh Syndrome and NARP CN043634 16 Feb 2016 Disease Mitochondrial DNA-depletion syndrome 3, hepatocerebral NCBI curation C3151513 251880 16 Feb 2016 Disease Mitochondrial DNA-related disorder NCBI curation CN552492 22 Oct 2017 Disease Mitochondrial encephalomyopathy NCBI curation C0162666 16 Feb 2016 Disease Mitochondrial encephalopathy Human Phenotype Ontology C1852373 HP:0006789 04 Apr 2018 Disease Mitochondrial hepato-encephalopathy 04 Feb 2019 Disease mitochondrial hepatopathy C1328348 15 Nov 2019 Finding Mitochondrial import-stimulating factor NCBI curation C1833246 600851 16 Feb 2016 Disease Mitochondrial intermembrane space protein tim12, yeast, homolog of NCBI curation C1865698 602252 16 Feb 2016 Disease Mitochondrial lysine transport defect Human Phenotype Ontology C4024715 HP:0008265 16 Feb 2016 Finding Mitochondrial malic enzyme reduced Human Phenotype Ontology C1856697 HP:0003232 16 Feb 2016 Finding Mitochondrial membrane transport disorder MONDO CN227001 MONDO:0016800 17 Apr 2020 Disease Mitochondrial myopathy Human Phenotype Ontology C0162670 HP:0003737 251900 16 Feb 2016 Disease Mitochondrial myopathy and sideroblastic anemia Orphanet C1838103 ORPHA2598 16 Feb 2016 Disease Mitochondrial myopathy with a defect in mitochondrial-protein transport NCBI curation C1855034 251945 16 Feb 2016 Disease Mitochondrial myopathy with diabetes NCBI curation C1839028 500002 16 Feb 2016 Disease Mitochondrial myopathy, infantile, transient NCBI curation C3151898 500009 24 Aug 2016 Disease Mitochondrial myopathy, isolated NCBI curation C4016606 16 Feb 2016 Disease Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO C4540096 MONDO:0044714 617675 17 Apr 2020 Disease Mitochondrial myopathy-lactic acidosis-deafness syndrome MONDO C1855033 MONDO:0016825 251950 17 Apr 2020 Disease Mitochondrial neurogastrointestinal encephalomyopathy Orphanet CN918676 ORPHA298 06 Apr 2018 Disease MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED 16 Feb 2016 Disease Mitochondrial oxidative phosphorylation disorder Orphanet CN924906 ORPHA223713 08 Apr 2018 Disease Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA MONDO CN202051 MONDO:0016795 17 Apr 2020 Disease Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA MONDO CN202049 MONDO:0016792 17 Apr 2020 Disease Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA MONDO CN202050 MONDO:0016793 17 Apr 2020 Disease Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies MONDO CN202048 MONDO:0016791 17 Apr 2020 Disease Mitochondrial oxidative phosphorylation disorder with no known mechanism MONDO CN202054 MONDO:0016799 17 Apr 2020 Disease Mitochondrial phosphate carrier deficiency NCBI curation C1835845 610773 16 Feb 2016 Disease Mitochondrial propionyl-CoA carboxylase defect Human Phenotype Ontology C4025634 HP:0003288 02 Apr 2017 Finding Mitochondrial protein import disorder MONDO CN227003 MONDO:0016802 17 Apr 2020 Disease Mitochondrial proton-transporting ATP synthase complex deficiency MONDO C4757950 MONDO:0014471 28 May 2020 Disease Mitochondrial pyruvate carrier deficiency NCBI curation C3553607 614741 16 Feb 2016 Disease Mitochondrial respiratory chain defects Human Phenotype Ontology C2751582 HP:0200125 16 Feb 2016 Finding Mitochondrial short-chain enoyl-coa hydratase 1 deficiency NCBI curation C4225391 616277 16 Feb 2016 Disease Mitochondrial substrate carrier disorder MONDO CN227002 MONDO:0016801 17 Apr 2020 Disease Mitochondrial swelling Human Phenotype Ontology C0026244 HP:0030774 02 Apr 2017 Finding Mitochondrial trifunctional protein deficiency NCBI curation C1969443 609015 02 Nov 2018 Disease Mitochondrial-DNA disorder 11 Oct 2018 Disease Mitral annular calcification Human Phenotype Ontology C1835130 HP:0005136 04 Apr 2018 Finding Mitral atresia disorder MONDO C0344760 MONDO:0015249 17 Apr 2020 Disease Mitral regurgitation Human Phenotype Ontology C0026266 HP:0001653 16 Feb 2016 Finding Mitral regurgitation deafness skeletal anomalies 16 Feb 2016 Disease Mitral stenosis Human Phenotype Ontology C0026269 HP:0001718 16 Feb 2016 Finding Mitral valve arcade Human Phenotype Ontology C4021143 HP:0011564 16 Feb 2016 Finding Mitral valve calcification Human Phenotype Ontology C0919718 HP:0004382 16 Feb 2016 Finding Mitral valve disease MONDO MONDO:0003767 17 Apr 2020 Disease Mitral valve prolapse Human Phenotype Ontology C0026267 HP:0001634 16 Feb 2016 Finding Mitral valve prolapse 1 NCBI curation C1834819 157700 06 Nov 2017 Disease Mitral valve prolapse 2 NCBI curation C1843003 607829 24 Aug 2016 Disease Mitral valve prolapse 3 NCBI curation C1835814 610840 24 Aug 2016 Disease Mitten deformity Human Phenotype Ontology C1969236 HP:0004057 16 Feb 2016 Finding Miura syndrome 16 Feb 2016 Disease Mixed anxiety and depressive disorder MONDO C0338908 MONDO:0041086 17 Apr 2020 Disease Mixed astrocytoma-ependymoma MONDO C0280791 MONDO:0004393 17 Apr 2020 Disease Mixed astrocytoma-ependymoma-oligodendroglioma MONDO C0280792 MONDO:0004366 17 Apr 2020 Disease Mixed autoinflammatory and autoimmune syndrome MONDO CN204102 MONDO:0017956 17 Apr 2020 Disease Mixed cell adenoma MONDO C0334323 MONDO:0003421 17 Apr 2020 Disease Mixed cell type adenoma of parathyroid MONDO C0279701 MONDO:0004304 17 Apr 2020 Disease Mixed cell type kidney Wilms' tumor MONDO C0279611 MONDO:0003318 17 Apr 2020 Disease Mixed cell uveal melanoma MONDO C1334782 MONDO:0003910 17 Apr 2020 Disease Mixed cerebral palsy MONDO C0751024 MONDO:0000400 22 Apr 2020 Disease Mixed cirrhosis Human Phenotype Ontology C1392669 HP:0011005 16 Feb 2016 Finding mixed conductive sensorineural hearing loss 05 Sep 2019 Finding Mixed connective tissue disease C0026272 16 Feb 2016 Disease Mixed cryoglobulinemia type III MONDO CN206634 MONDO:0019727 17 Apr 2020 Disease Mixed cystic lymphatic malformation MONDO CN242149 MONDO:0018717 17 Apr 2020 Disease Mixed demyelinating and axonal polyneuropathy Human Phenotype Ontology C4024907 HP:0007327 16 Feb 2016 Finding Mixed dermis disorder MONDO CN227617 MONDO:0019294 17 Apr 2020 Disease mixed development disorder 05 Sep 2019 Finding mixed developmental disorder 05 Sep 2019 Finding Mixed ductal-endocrine carcinoma of pancreas MONDO C1301048 MONDO:0004340 17 Apr 2020 Disease Mixed dust pneumoconiosis C0264436 16 Feb 2016 Disease mixed dyslipidemia 05 Sep 2019 Finding Mixed endometrial stromal and smooth muscle tumor MONDO MONDO:0004526 17 Apr 2020 Disease Mixed epithelial stromal tumor MONDO MONDO:0003272 17 Apr 2020 Disease Mixed epithelial stromal tumor of the kidney MONDO C1272677 MONDO:0002386 17 Apr 2020 Disease Mixed epithelial/mesenchymal metaplastic breast carcinoma MONDO C1513365 MONDO:0004274 17 Apr 2020 Disease Mixed epithelioid and spindle cell melanoma MONDO C0334442 MONDO:0006749 17 Apr 2020 Disease Mixed extragonadal germ cell cancer MONDO MONDO:0000524 17 Apr 2020 Disease Mixed fibrolamellar hepatocellular carcinoma MONDO MONDO:0000891 17 Apr 2020 Disease Mixed functioning pituitary adenoma MONDO C0346305 MONDO:0017822 17 Apr 2020 Disease Mixed germ cell tumor MONDO C0334524 MONDO:0015864 17 Apr 2020 Disease Mixed germ cell tumor of central nervous system MONDO C1334785 MONDO:0016742 17 Apr 2020 Disease Mixed germ cell tumor of vulva MONDO MONDO:0020651 17 Apr 2020 Disease Mixed germ cell-sex cord-stromal tumor MONDO C1321220 MONDO:0002478 17 Apr 2020 Disease Mixed glioma MONDO C0259783 MONDO:0003268 17 Apr 2020 Disease Mixed hearing impairment Human Phenotype Ontology C0155552 HP:0000410 16 Feb 2016 Finding Mixed hepatoblastoma MONDO C1334784 MONDO:0003650 17 Apr 2020 Disease Mixed hypo- and hyperpigmentation of the skin Human Phenotype Ontology C4024584 HP:0009123 16 Feb 2016 Finding Mixed lineage leukemia NCBI curation C3888194 16 Feb 2016 Disease Mixed liposarcoma MONDO C0334472 MONDO:0003594 17 Apr 2020 Disease Mixed lobular and ductal breast carcinoma MONDO C0334384 MONDO:0006306 17 Apr 2020 Disease Mixed malaria MONDO C0153121 MONDO:0001944 04 Jun 2020 Infectious disease Mixed mineral dust pneumoconiosis MONDO C0340184 MONDO:0001000 17 Apr 2020 Disease Mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma MONDO C1266036 MONDO:0000893 17 Apr 2020 Disease Mixed neoplasm MONDO C1368354 MONDO:0021043 17 Apr 2020 Disease Mixed Phenotype Acute Leukemia with t(v;11q23.3); KMT2A Rearranged C2826048 15 Mar 2019 Disease Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified C2826055 15 Mar 2019 Disease mixed receptive-expressive language disorder C0236827 05 Sep 2019 Finding Mixed receptive-expresssive language disorder 21 Dec 2019 Finding Mixed respiratory and metabolic acidosis Human Phenotype Ontology C1840372 HP:0005967 16 Feb 2016 Finding Mixed sclerosing bone dystrophy 16 Feb 2016 Disease Mixed sclerosing bone dystrophy with extra-skeletal manifestations MONDO MONDO:0017930 17 Apr 2020 Disease Mixed sclerosis of humeral metaphyses Human Phenotype Ontology C4025128 HP:0005825 16 Feb 2016 Finding Mixed somatotroph-lactotroph pituitary gland adenoma MONDO C1709052 MONDO:0006307 17 Apr 2020 Disease Mixed teratoma and seminoma MONDO MONDO:0024861 17 Apr 2020 Disease Mixed testicular germ cell cancer MONDO C1336720 MONDO:0003120 17 Apr 2020 Disease mixed tone spasticity CN224083 16 Feb 2016 Finding Mixed total anomalous pulmonary venous connection Human Phenotype Ontology C4021128 HP:0011722 16 Feb 2016 Finding Miyoshi muscular dystrophy 1 NCBI curation C1850808 254130 16 Feb 2016 Disease Miyoshi muscular dystrophy 2 NCBI curation C2750077 613318 16 Feb 2016 Disease Miyoshi muscular dystrophy 3 NCBI curation C2750076 613319 16 Feb 2016 Disease Miyoshi myopathy NCBI curation CN230453 16 Feb 2016 Disease Mizuo phenomenon Human Phenotype Ontology C4280748 HP:0030824 02 Apr 2017 Finding MKKS-Related Disorders 23 May 2019 Disease MKS1-Related Disorders CN239382 02 Dec 2016 Disease MLH3-Related Lynch Syndrome CN229796 16 Feb 2016 Disease MMEP syndrome MONDO C1832440 MONDO:0011045 601349 17 Apr 2020 Disease MMP13-Related Disorders 23 May 2019 Disease Mnemonic auras Human Phenotype Ontology C4023085 HP:0012004 16 Feb 2016 Finding MNGIE, RRM2B-RELATED 16 Feb 2016 Disease MNS BLOOD GROUP SYSTED CN244933 20 May 2018 Disease MNSs BLOOD GROUP SYSTEM NCBI curation CN934856 10 Apr 2018 Disease Mo ALLOANTIGEN POLYMORPHISM 16 Feb 2016 Disease Mobitz I atrioventricular block Human Phenotype Ontology C0264907 HP:0011707 16 Feb 2016 Finding Mobitz II atrioventricular block Human Phenotype Ontology C0155700 HP:0011708 16 Feb 2016 Finding Moderae intellectual disability 23 Jan 2020 Finding Moderate cerebellum atrophy in Magnetic Resonance Imaging CN235373 02 Mar 2016 Finding Moderate coarctation of transverse aortic arch 22 Jun 2020 Finding Moderate conductive hearing impairment Human Phenotype Ontology C4021075 HP:0012716 16 Feb 2016 Finding Moderate expressive language delay Human Phenotype Ontology C3532933 HP:0011345 16 Feb 2016 Finding Moderate generalized osteoporosis Human Phenotype Ontology C4025163 HP:0005653 16 Feb 2016 Finding Moderate global developmental delay Human Phenotype Ontology C2237142 HP:0011343 16 Feb 2016 Finding Moderate hearing impairment Human Phenotype Ontology C4022757 HP:0012713 16 Feb 2016 Finding Moderate heart failure MONDO MONDO:0005256 17 Apr 2020 Disease Moderate intellectual deficiency CN239857 11 Jan 2017 Disease Moderate intellectual disability, axial and peripheral hypotonia, episodic ataxia, speech impairement. NCBI curation 16 Feb 2016 Finding Moderate intrauterine growth retardation Human Phenotype Ontology C4023370 HP:0011408 16 Feb 2016 Finding moderate joint hypermobility 22 Aug 2019 Finding Moderate postnatal growth retardation Human Phenotype Ontology C4024616 HP:0008855 16 Feb 2016 Finding Moderate proteinuria Human Phenotype Ontology C4022831 HP:0012596 16 Feb 2016 Finding Moderate receptive language delay Human Phenotype Ontology C3532946 HP:0011351 16 Feb 2016 Finding Moderate sensorineural hearing impairment Human Phenotype Ontology C4024664 HP:0008504 16 Feb 2016 Finding Moderate to profound mental retardation CN235282 19 Feb 2016 Finding Moderate visual impairment Human Phenotype Ontology C1301510 HP:0030515 16 Feb 2016 Finding Moderately reduced ejection fraction Human Phenotype Ontology C4022791 HP:0012665 16 Feb 2016 Finding Moderately severe hemophilia A MONDO CN200231 MONDO:0015720 17 Apr 2020 Disease Moderately severe hemophilia B MONDO CN200228 MONDO:0015716 17 Apr 2020 Disease Moderately short stature Human Phenotype Ontology C1861519 HP:0008848 16 Feb 2016 Finding Moderately-differentiated thymic neuroendocrine carcinoma MONDO CN202279 MONDO:0016977 17 Apr 2020 Disease Modic type I vertebral endplate changes Human Phenotype Ontology C4280777 HP:0030776 02 Apr 2017 Finding Modic type II vertebral endplate changes Human Phenotype Ontology C4280776 HP:0030777 02 Apr 2017 Finding Modic type III vertebral endplate changes Human Phenotype Ontology C4280775 HP:0030778 02 Apr 2017 Finding Modic type vertebral endplate changes Human Phenotype Ontology C4280778 HP:0030775 02 Apr 2017 Finding Modifier of PXE severity NCBI curation 16 Feb 2016 Disease Modifier, X-linked, for neurofunctional defects NCBI curation C1839708 309840 16 Feb 2016 Disease Moebius axonal neuropathy hypogonadism 16 Feb 2016 Disease Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome MONDO C2931024 MONDO:0016819 17 Apr 2020 Disease Mohr syndrome C0026363 252100 16 Feb 2016 Disease Molar tooth sign on MRI Human Phenotype Ontology C1865060 HP:0002419 16 Feb 2016 Finding Molar-incisor hypomineralization MONDO MONDO:0005482 17 Apr 2020 Disease Molarization of premolar Human Phenotype Ontology C1404304 HP:0011093 16 Feb 2016 Finding Mollusc allergy MONDO MONDO:0000798 17 Apr 2020 Disease Molluscoid pseudotumors Human Phenotype Ontology C1844597 HP:0000993 16 Feb 2016 Finding Molluscum contagiosum MONDO C0026393 MONDO:0005855 04 Jun 2020 Infectious disease Moloney syndrome 16 Feb 2016 Disease Molybdenum Cofactor Deficiency A CN229758 16 Feb 2016 Disease Molybdenum cofactor deficiency B CN259053 14 Jun 2019 Disease Molybdenum cofactor deficiency C CN259054 14 Jun 2019 Disease Molybdenum cofactor deficiency, complementation group A NCBI curation C1854988 252150 16 Feb 2016 Disease Molybdenum cofactor deficiency, complementation group B NCBI curation C1854989 252160 16 Feb 2016 Disease Molybdenum cofactor deficiency, complementation group C NCBI curation C1854990 615501 16 Feb 2016 Disease MOMO syndrome C1834759 157980 16 Feb 2016 Disease Monckeberg arteriosclerosis MONDO C0887866 MONDO:0003310 17 Apr 2020 Disease Mondini Dysplasia CN036232 16 Feb 2016 Disease Mondor's disease 16 Feb 2016 Disease Mongolian blue spot Human Phenotype Ontology C0265985 HP:0011369 16 Feb 2016 Finding Monieziasis MONDO C0026414 MONDO:0004755 04 Jun 2020 Infectious disease Monkey disease MONDO MONDO:0025102 17 Apr 2020 Disease Monkeypox C0276180 16 Feb 2016 Infectious disease Monocarboxylate transporter 1 deficiency NCBI curation C4015186 616095 16 Feb 2016 Disease Monocarboxylate transporter 1 deficiency, autosomal dominant NCBI curation C4016684 26 May 2016 Disease Monocarboxylate transporter 1 deficiency, autosomal recessive NCBI curation C4016683 26 May 2016 Disease Monochromacy Human Phenotype Ontology C5201048 HP:0007803 16 Feb 2016 Finding Monoclonal B-Cell Lymphocytosis C2698259 26 Feb 2016 Finding monoclonal gammopathy C1136085 14 Feb 2020 Finding Monoclonal gammopathy of uncertain significance MONDO C0026470 MONDO:0004225 17 Apr 2020 Disease Monoclonal gammopathy of undetermined significance 16 Feb 2016 Disease Monoclonal immunoglobulin M proteinemia Human Phenotype Ontology C4477091 HP:0005508 04 Apr 2018 Finding Monoclonal light chain cardiac amyloidosis Human Phenotype Ontology C4531197 HP:0031326 04 Apr 2018 Finding Monoclonal mast cell activation syndrome MONDO C4267893 MONDO:0033954 17 Apr 2020 Disease Monoclonal paraproteinemia disease MONDO C0026471 MONDO:0002274 17 Apr 2020 Disease Monocular esotropia MONDO C0152204 MONDO:0000997 17 Apr 2020 Disease Monocular exotropia MONDO C0152206 MONDO:0001392 17 Apr 2020 Disease Monocular horizontal nystagmus Human Phenotype Ontology C4024807 HP:0007747 16 Feb 2016 Finding Monocyte carboxylesterase deficiency NCBI curation 16 Feb 2016 Disease Monocyte chemotactic disorder NCBI curation C1854982 252250 16 Feb 2016 Disease Monocyte esterase deficiency NCBI curation 16 Feb 2016 Disease Monocytic leukemia MONDO C0598894 MONDO:0004600 17 Apr 2020 Disease Monocytopenia Human Phenotype Ontology C0427544 HP:0012312 16 Feb 2016 Finding Monocytosis Human Phenotype Ontology C0085702 HP:0012311 16 Feb 2016 Finding Monodactyly tetramelic 16 Feb 2016 Disease Monofixation syndrome MONDO C0339611 MONDO:0004899 17 Apr 2020 Disease Monogenic diabetes C3888631 11 Mar 2017 Disease Monogenic disease MONDO MONDO:0000275 17 Apr 2020 Disease Monogenic disease with epilepsy MONDO CN200063 MONDO:0015653 17 Apr 2020 Disease Monogenic Non-Syndromic Obesity CN239457 02 Dec 2016 Disease Monogenic Non-Syndromic Obesity, Autosomal Recessive CN043636 16 Feb 2016 Disease Monomelic amyotrophy C1865384 602440 16 Feb 2016 Disease Mononegavirales infectious disease MONDO C0242916 MONDO:0005856 04 Jun 2020 Infectious disease Mononeuritis multiplex C0151295 16 Feb 2016 Disease Mononeuritis of lower limb MONDO MONDO:0004797 17 Apr 2020 Disease Mononeuritis simplex MONDO C0235880 MONDO:0002121 17 Apr 2020 Disease Mononeuropathy Human Phenotype Ontology C0494491 HP:0009831 16 Feb 2016 Finding Mononeuropathy of the Median Nerve C3150597 02 Dec 2016 Finding Mononeuropathy of the median nerve, mild NCBI curation C3150596 613353 16 Feb 2016 Disease Monophalangy of great toe NCBI curation C1834753 158100 16 Feb 2016 Disease Monophasic synovial sarcoma MONDO C1334801 MONDO:0005067 17 Apr 2020 Disease Monorchism Human Phenotype Ontology C0266429 HP:0030868 02 Apr 2017 Finding Monosomy 13q34 MONDO C4707797 MONDO:0019902 17 Apr 2020 Disease Monosomy 21 MONDO C0795875 MONDO:0018930 17 Apr 2020 Disease Monosomy 22 MONDO C0795878 MONDO:0019891 17 Apr 2020 Disease Monosomy 7 of bone marrow NCBI curation C1854978 252270 16 Feb 2016 Disease Monosomy 8q12 21 CN036605 16 Feb 2016 Disease Monosomy 8q21 q22 CN036327 16 Feb 2016 Disease Monosomy X NCBI curation C0242526 13 Mar 2020 Disease Monostotic fibrous dysplasia Human Phenotype Ontology C0016064 HP:0010736 16 Feb 2016 Finding Monotonic speech Human Phenotype Ontology C4531121 HP:0031435 04 Apr 2018 Finding Montefiore syndrome 16 Feb 2016 Disease Monteggia's fracture MONDO MONDO:0043723 17 Apr 2020 Disease Mood changes Human Phenotype Ontology C0554980 HP:0001575 16 Feb 2016 Finding Mood disorder C0525045 18 Jan 2019 Finding mood disorder with psychosis 05 Sep 2019 Finding Mood Disorders PharmGKB CN236678 18 May 2016 Disease Mood swings Human Phenotype Ontology C0085633 HP:0000720 16 Feb 2016 Finding Moon facies Human Phenotype Ontology C0332601 HP:0500011 04 Apr 2018 Finding Moore Smith Weaver syndrome 16 Feb 2016 Disease Moore-Federman syndrome C0265349 127200 16 Feb 2016 Disease Mooren ulcer MONDO C0155072 MONDO:0001032 17 Apr 2020 Disease Moraxellaceae infectious disease MONDO CN281656 MONDO:0006878 04 Jun 2020 Infectious disease Morbid obesity NCBI curation C0028756 16 Feb 2016 Disease Morbid obesity and spermatogenic failure NCBI curation C3810324 615703 16 Feb 2016 Disease Morbilliform rash Human Phenotype Ontology C0234918 HP:0012282 16 Feb 2016 Finding Morbillivirus infectious disease MONDO C0206614 MONDO:0005857 04 Jun 2020 Infectious disease Morbus Kienboeck Human Phenotype Ontology C0022682 HP:0010889 16 Feb 2016 Finding Morbus Koehler Human Phenotype Ontology C4023674 HP:0010888 16 Feb 2016 Finding Morbus Osgood-Schlatter Human Phenotype Ontology C0029376 HP:0010890 16 Feb 2016 Finding Morbus Osler 06 Jul 2018 Finding MORC2-related developmental disorder 10 Jan 2020 Finding Morel's ear 16 Feb 2016 Disease Moreno Zachai Kaufman syndrome 16 Feb 2016 Disease Morgagni cataract MONDO C0152258 MONDO:0001848 17 Apr 2020 Disease Morgagni diaphragmatic hernia Human Phenotype Ontology C0265699 HP:0025194 02 Apr 2017 Finding Morgellons 16 Feb 2016 Disease Morillo-Cucci Passarge syndrome 16 Feb 2016 Disease MORM syndrome C1857802 610156 16 Feb 2016 Disease Morning Glory CN235158 16 Feb 2016 Finding Morning glory anomaly Human Phenotype Ontology C3554721 HP:0025514 04 Apr 2018 Finding Morning glory disc NCBI curation C0393782 24 Jul 2019 Disease Morning glory disc anomaly NCBI curation 16 Feb 2016 Disease Morning glory syndrome MONDO C0549307 MONDO:0018169 17 Apr 2020 Disease Morning myoclonic jerks Human Phenotype Ontology C1847164 HP:0007000 16 Feb 2016 Finding Morphea Human Phenotype Ontology C1527383 HP:0012344 16 Feb 2016 Disease Morpheaform basal cell carcinoma MONDO C0555191 MONDO:0002949 17 Apr 2020 Disease Morphine dependence MONDO C0026552 MONDO:0005531 17 Apr 2020 Disease Morphine response NCBI curation CN227914 16 Feb 2016 Pharmacological response morphine response - Dosage PharmGKB CN236537 1444704833 18 May 2016 Pharmacological response morphine response - Dosage, Efficacy PharmGKB 1444704833PA450550 06 Jul 2018 Pharmacological response morphine response - Dosage, Efficacy, Metabolism/PK PharmGKB 982034197PA450550 06 Jul 2018 Pharmacological response morphine response - Metabolism/PK PharmGKB CN236601 982034197 18 May 2016 Pharmacological response Morphological abnormality of the anterior semicircular canal Human Phenotype Ontology C4022435 HP:0040108 16 Feb 2016 Finding Morphological abnormality of the central nervous system Human Phenotype Ontology C4021765 HP:0002011 16 Feb 2016 Finding Morphological abnormality of the gastrointestinal tract Human Phenotype Ontology C4021073 HP:0012718 16 Feb 2016 Finding Morphological abnormality of the inner ear Human Phenotype Ontology C4023381 HP:0011390 16 Feb 2016 Finding Morphological abnormality of the lateral semicircular canal Human Phenotype Ontology C4021034 HP:0040106 16 Feb 2016 Finding Morphological abnormality of the middle ear Human Phenotype Ontology C1857456 HP:0008609 16 Feb 2016 Finding Morphological abnormality of the nerves of the inner ear Human Phenotype Ontology C4023380 HP:0011391 16 Feb 2016 Finding Morphological abnormality of the papillary muscles Human Phenotype Ontology C4476781 HP:0025445 04 Apr 2018 Finding Morphological abnormality of the posterior semicircular canal Human Phenotype Ontology C4022436 HP:0040107 16 Feb 2016 Finding Morphological abnormality of the pyramidal tract Human Phenotype Ontology C4021761 HP:0002062 16 Feb 2016 Finding Morphological abnormality of the saccule Human Phenotype Ontology C4022433 HP:0040110 16 Feb 2016 Finding Morphological abnormality of the semicircular canal Human Phenotype Ontology C4023386 HP:0011380 16 Feb 2016 Finding Morphological abnormality of the utricle Human Phenotype Ontology C4022434 HP:0040109 16 Feb 2016 Finding Morphological abnormality of the vestibule of the inner ear Human Phenotype Ontology C0542259 HP:0011376 16 Feb 2016 Finding Morquio syndrome NCBI curation C0026707 21 Jun 2017 Disease Morquio syndrome C C2931140 252300 16 Feb 2016 Disease Morse Rawnsley Sargent syndrome 16 Feb 2016 Disease Morvan's fibrillary chorea 16 Feb 2016 Disease Mosaic attenuation pattern on pulmonary HRCT Human Phenotype Ontology C4476755 HP:0025397 04 Apr 2018 Finding Mosaic central corneal dystrophy Human Phenotype Ontology C4021996 HP:0100690 16 Feb 2016 Finding Mosaic corneal dystrophy Human Phenotype Ontology C4024786 HP:0007836 16 Feb 2016 Finding Mosaic genome-wide paternal uniparental disomy MONDO C5190828 MONDO:0018007 17 Apr 2020 Disease Mosaic neurocutaneous disorder 24 Nov 2017 Finding Mosaic sex chromosome aneuploidy CN873439 19 Mar 2018 Disease Mosaic trisomy 1 MONDO CN073987 MONDO:0015706 17 Apr 2020 Disease Mosaic trisomy 10 MONDO C2931794 MONDO:0019868 17 Apr 2020 Disease Mosaic trisomy 12 MONDO CN073989 MONDO:0015718 17 Apr 2020 Disease Mosaic trisomy 14 MONDO C2930917 MONDO:0015725 22 Apr 2020 Disease Mosaic trisomy 15 MONDO C2931707 MONDO:0015727 17 Apr 2020 Disease Mosaic trisomy 17 MONDO C1096168 MONDO:0015730 17 Apr 2020 Disease Mosaic trisomy 2 MONDO CN073991 MONDO:0015763 17 Apr 2020 Disease Mosaic trisomy 22 MONDO C2931326 MONDO:0019869 22 Apr 2020 Disease Mosaic trisomy 3 MONDO CN073992 MONDO:0015060 17 Apr 2020 Disease Mosaic trisomy 4 MONDO C4272018 MONDO:0019865 17 Apr 2020 Disease Mosaic trisomy 5 MONDO C2931603 MONDO:0019866 17 Apr 2020 Disease Mosaic trisomy 6 MONDO MONDO:0043277 17 Apr 2020 Disease Mosaic trisomy 7 MONDO C2931631 MONDO:0015771 17 Apr 2020 Disease Mosaic trisomy 8 MONDO C1096527 MONDO:0019867 17 Apr 2020 Disease Mosaic trisomy 9 MONDO C2930908 MONDO:0020490 22 Apr 2020 Disease Mosaic Turner syndrome C4040907 18 Jan 2019 Finding Mosaic variegated aneuploidy syndrome OMIM phenotypic series C1850343 PS257300 16 Aug 2017 Disease Mosaic variegated aneuploidy syndrome Orphanet C1850343 ORPHA1052 16 Aug 2017 Disease Mosaic variegated aneuploidy syndrome 1 NCBI curation CN031748 257300 16 Aug 2017 Disease Mosaic variegated aneuploidy syndrome 2 NCBI curation C3279843 614114 16 Feb 2016 Disease Mosaic variegated aneuploidy syndrome 3 NCBI curation C4539839 617598 16 Aug 2017 Disease Mosquito-borne viral encephalitis MONDO C0751098 MONDO:0020601 04 Jun 2020 Infectious disease Motheaten muscle fibers Human Phenotype Ontology C4022160 HP:0100298 16 Feb 2016 Finding Mother is a carrier for c.5899C>T (p.Arg1967Ter) in exon 41 of DMD gene. 26 Jun 2018 Finding Mother of proband affected with Adrenoleukodystrophy 01 May 2020 Finding Mother with chromosome abnormality 22 Jun 2020 Finding Motion sickness C0026603 158280 16 Feb 2016 Disease Motor and sensory neuropathy 20 Nov 2019 Disease Motor aphasia Human Phenotype Ontology C0003550 HP:0002427 16 Feb 2016 Finding motor apraxia 05 Sep 2019 Finding Motor axonal neuropathy Human Phenotype Ontology C2749625 HP:0007002 16 Feb 2016 Finding Motor conduction block Human Phenotype Ontology C4023056 HP:0012078 16 Feb 2016 Finding motor degeneration 13 Feb 2020 Finding Motor delay Human Phenotype Ontology C1854301 HP:0001270 16 Feb 2016 Finding Motor delay, mild C4314979 16 Apr 2020 Disease Motor deterioration Human Phenotype Ontology C1866284 HP:0002333 16 Feb 2016 Finding Motor development delay CN232693 16 Feb 2016 Finding Motor developmental delay with muscular hypotonia CN242286 27 Apr 2017 Finding Motor impersistence Human Phenotype Ontology C4073148 HP:0040200 02 Apr 2017 Finding Motor nerve neuritis MONDO C0235025 MONDO:0004004 17 Apr 2020 Disease Motor neuron atrophy Human Phenotype Ontology C4024896 HP:0007373 16 Feb 2016 Finding Motor neuron disease NCBI curation C0085084 16 Feb 2016 Disease Motor neuron disease with dementia and ophthalmoplegia NCBI curation C1838253 600333 16 Feb 2016 Disease Motor neuropathy 16 Feb 2016 Disease Motor polyneuropathy Human Phenotype Ontology C0271683 HP:0007178 16 Feb 2016 Finding motor regression 26 Feb 2020 Finding motor sensory neuropathy 15 Aug 2019 Finding Motor sensory neuropathy type 1 aplasia cutis congenita 16 Feb 2016 Disease motor skills delay 05 Sep 2019 Finding Motor stereotypies MONDO C3898226 MONDO:0017656 17 Apr 2020 Disease Motor tics Human Phenotype Ontology C0751900 HP:0100034 16 Feb 2016 Finding motor weakness 13 Feb 2020 Finding Mottled pigmentation Human Phenotype Ontology C0860439 HP:0001070 16 Feb 2016 Finding Mottled pigmentation of photoexposed areas Human Phenotype Ontology C3151964 HP:0007511 16 Feb 2016 Finding Mottled pigmentation of the trunk and proximal extremities Human Phenotype Ontology C1851551 HP:0007438 16 Feb 2016 Finding Mouth disease MONDO C0026636 MONDO:0006858 17 Apr 2020 Disease Mouth mucosa disease MONDO C1290071 MONDO:0044992 17 Apr 2020 Disease Mouth neoplasm Human Phenotype Ontology C0026640 HP:0012290 16 Feb 2016 Finding mouth with thick lower lip 22 Aug 2019 Finding Movement abnormality of the tongue Human Phenotype Ontology C4025882 HP:0000182 16 Feb 2016 Finding Movement disorder MONDO C0026650 MONDO:0005395 17 Apr 2020 Disease Movement disorder Human Phenotype Ontology C0026650 HP:0100022 17 Apr 2020 Disease Movement disorders 13 Apr 2018 Finding Mowat-Wilson syndrome C1856113 235730 16 Feb 2016 Disease Mowat-Wilson syndrome due to a ZEB2 point mutation MONDO CN202199 MONDO:0016856 17 Apr 2020 Disease Mowat-Wilson syndrome due to monosomy 2q22 MONDO CN202198 MONDO:0016855 17 Apr 2020 Disease Moyamoya disease OMIM phenotypic series C0026654 PS252350 16 Feb 2016 Disease Moyamoya disease 1 NCBI curation C2931384 252350 16 Feb 2016 Disease Moyamoya disease 2 NCBI curation C1846689 607151 16 Feb 2016 Disease Moyamoya disease 3 NCBI curation C1837418 608796 16 Feb 2016 Disease Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism NCBI curation C3151857 300845 16 Feb 2016 Disease Moyamoya disease 5 NCBI curation C3279690 614042 16 Feb 2016 Disease Moyamoya disease 6 with achalasia NCBI curation C3810403 615750 16 Feb 2016 Disease Moyamoya phenomenon Human Phenotype Ontology C4023169 HP:0011834 16 Feb 2016 Finding Moynahan's syndrome C0265328 203600 16 Feb 2016 Disease Moyomoya angiopathy MONDO CN776905 MONDO:0018791 17 Apr 2020 Disease Mozart ear Human Phenotype Ontology C4073124 HP:0030677 02 Apr 2017 Finding MPAN mimicing HSP 23 Jan 2019 Finding MPDU1-CDG MONDO C1836669 MONDO:0012211 609180 17 Apr 2020 Disease MPI-CDG MONDO C1865145 MONDO:0011257 602579 17 Apr 2020 Disease MPL-Related Disorders 23 May 2019 Disease MPV17-Related Disorders CN239328 02 Dec 2016 Disease MPV17-related mitochondrial DNA maintenance defect 13 Dec 2018 Finding MPZ-Related Disorders 23 May 2019 Disease MR/ID/DD CN232552 16 Feb 2016 Finding MR/ID/DD _ Allergy/Immunologic/Infectious (child onset) CN232473 16 Feb 2016 Finding MR/ID/DD _ Audiologic/Otolaryngologic (child onset) CN232490 16 Feb 2016 Finding MR/ID/DD _ Craniofacial (child onset) CN232506 16 Feb 2016 Finding MR/ID/DD _ Dermatologic (child onset) CN232510 16 Feb 2016 Finding MR/ID/DD _ Gastrointestinal (child onset) CN232513 16 Feb 2016 Finding MR/ID/DD _ Musculoskeletal/Structural (child onset) CN232520 16 Feb 2016 Finding MR/ID/DD _ Neurologic (child onset) CN232521 16 Feb 2016 Finding MRCS syndrome MONDO C4749856 MONDO:0016979 17 Apr 2020 Disease MRI abnormalities with periventricular hypomyelisation 20 Sep 2018 Finding MRI abnormality CN244025 01 Jun 2017 Finding MRI changes CN244030 01 Jun 2017 Finding MRI changes typical for MLD 28 Sep 2018 Finding MRI defined brain infarct MONDO MONDO:0005426 17 Apr 2020 Disease MRI findings CN244036 01 Jun 2017 Finding MRI suggested possibility of X-linked adrenoleukodystrophy CN234656 16 Feb 2016 Finding MRI: batwing appearance CN231056 16 Feb 2016 Finding MRX14 OMIM C0796220 300062 300062 17 Apr 2020 Disease MRX14 MONDO C0796220 MONDO:0010236 300062 17 Apr 2020 Disease MSBD syndrome 16 Feb 2016 Disease Mseleni joint disease NCBI curation C2931420 613342 28 Feb 2017 Disease MSH2 POLYMORPHISM 16 Feb 2016 Disease MSH2-related disorder 07 Dec 2018 Disease MSTO1-related disorder 07 May 2020 Finding mtDNA-related disorders 13 Oct 2017 Disease MTHFR deficiency, thermolabile type NCBI curation C1856059 16 Feb 2016 Disease MTHFS-related condition 27 Apr 2018 Finding mTOR Inhibitor response 04 May 2018 Pharmacological response MTOR-related megalencephaly and pigmentary mosaicism in skin 05 Oct 2018 Finding MTS CN238755 19 Oct 2016 Finding MTS like CN238752 19 Oct 2016 Finding Mu-heavy chain disease MONDO C0242310 MONDO:0015044 17 Apr 2020 Disease Mucin-producing carcinoma MONDO MONDO:0020596 17 Apr 2020 Disease Mucin-rich endometrial endometrioid adenocarcinoma MONDO C1513711 MONDO:0004175 17 Apr 2020 Disease Mucinous adenocarcinoma MONDO C0007130 MONDO:0004957 17 Apr 2020 Disease Mucinous adenocarcinoma of the appendix MONDO C1706832 MONDO:0018330 17 Apr 2020 Disease Mucinous adenofibroma MONDO C0334499 MONDO:0002398 17 Apr 2020 Disease Mucinous bronchioloalveolar adenocarcinoma MONDO MONDO:0000894 17 Apr 2020 Disease Mucinous colorectal carcinoma Human Phenotype Ontology C4531084 HP:0031497 04 Apr 2018 Finding Mucinous cystadenocarcinoma MONDO C0206699 MONDO:0005858 17 Apr 2020 Disease Mucinous cystadenofibroma MONDO C1377844 MONDO:0003886 17 Apr 2020 Disease Mucinous cystadenoma MONDO C0010635 MONDO:0006859 17 Apr 2020 Disease Mucinous cystic neoplasm of the pancreas Human Phenotype Ontology C4531085 HP:0031496 04 Apr 2018 Finding Mucinous gastric adenocarcinoma MONDO C1334809 MONDO:0006309 17 Apr 2020 Disease Mucinous gastric carcinoma Human Phenotype Ontology C4531083 HP:0031498 04 Apr 2018 Finding Mucinous histiocytosis Human Phenotype Ontology C0334126 HP:0040138 16 Feb 2016 Finding Mucinous intrahepatic cholangiocarcinoma MONDO C1513718 MONDO:0004078 17 Apr 2020 Disease Mucinous neoplasm Human Phenotype Ontology C1334811 HP:0031495 04 Apr 2018 Finding Mucinous ovarian cancer MONDO C1518233 MONDO:0024282 17 Apr 2020 Disease Mucinous ovarian cystadenoma MONDO C0346172 MONDO:0002583 17 Apr 2020 Disease Mucocele of appendix MONDO C0026684 MONDO:0001671 17 Apr 2020 Disease Mucocele of salivary gland MONDO C0026686 MONDO:0001600 17 Apr 2020 Disease Mucocutaneous leishmaniasis MONDO C1328252 MONDO:0005859 04 Jun 2020 Infectious disease Mucocutaneous ulceration 18 Oct 2019 Disease MUCOCUTANEOUS ULCERATION, CHRONIC OMIM C4748997 618287 618287 26 Jan 2019 Disease Mucoepidermoid breast carcinoma MONDO C1334813 MONDO:0003087 17 Apr 2020 Disease Mucoepidermoid carcinoma C0206694 16 Feb 2016 Disease Mucoepidermoid carcinoma of parotid gland MONDO C1335363 MONDO:0021280 17 Apr 2020 Disease Mucoepidermoid carcinoma of submandibular gland MONDO C1336524 MONDO:0021279 17 Apr 2020 Disease Mucoepidermoid esophageal carcinoma MONDO C1333461 MONDO:0003093 17 Apr 2020 Disease Mucolipidosis NCBI curation C0026697 16 Feb 2016 Disease MUCOLIPIDOSIS III ALPHA/BETA 18 Oct 2019 Disease Mucolipidosis III alpha/beta, atypical NCBI curation C2673375 26 Jul 2016 Disease Mucolipidosis IV CN868253 16 Mar 2018 Disease Mucolipidosis type II MONDO C2673377 MONDO:0009650 252500 22 Apr 2020 Disease Mucolipidosis type III gamma MONDO C1854896 MONDO:0009652 252605 22 Apr 2020 Disease Mucolipidosis type IV NCBI curation C0238286 252650 27 Dec 2017 Disease Mucolipidosis, Type III Alpha/Beta CN239170 02 Dec 2016 Disease Mucopolysaccharidoses, unclassified types NCBI curation C0220752 252700 16 Feb 2016 Disease Mucopolysaccharidosis C0026703 16 Feb 2016 Disease Mucopolysaccharidosis II CN260112 20 Jun 2019 Disease Mucopolysaccharidosis IVA CN260113 20 Jun 2019 Disease Mucopolysaccharidosis type 1 MONDO C0023786 MONDO:0001586 17 Apr 2020 Disease Mucopolysaccharidosis type 4B 12 Jul 2018 Disease Mucopolysaccharidosis type 6 MONDO C0026709 MONDO:0009661 253200 17 Apr 2020 Disease Mucopolysaccharidosis type 6, rapidly progressing MONDO CN202600 MONDO:0017171 17 Apr 2020 Disease Mucopolysaccharidosis type 6, slowly progressing MONDO CN202601 MONDO:0017172 17 Apr 2020 Disease Mucopolysaccharidosis type 7 MONDO C0085132 MONDO:0009662 253220 17 Apr 2020 Disease Mucopolysaccharidosis Type I/II CN165613 16 Feb 2016 Disease Mucopolysaccharidosis type IIIA (Sanfilippo A) CN260114 20 Jun 2019 Disease Mucopolysaccharidosis type IIIB (Sanfilippo B) CN260115 20 Jun 2019 Disease Mucopolysaccharidosis type IIIC (Sanfilippo C) CN260116 20 Jun 2019 Disease Mucopolysaccharidosis type IVB (Morquio) CN260117 20 Jun 2019 Disease Mucopolysaccharidosis with skin involvement MONDO CN261834 MONDO:0019302 17 Apr 2020 Disease Mucopolysaccharidosis, MPS-I-H/S C0086431 607015 16 Feb 2016 Disease Mucopolysaccharidosis, MPS-I-S C0026708 607016 16 Feb 2016 Disease Mucopolysaccharidosis, MPS-II NCBI curation C0026705 309900 16 Feb 2016 Disease Mucopolysaccharidosis, MPS-III-A C0086647 252900 16 Feb 2016 Disease Mucopolysaccharidosis, MPS-III-B C0086648 252920 16 Feb 2016 Disease Mucopolysaccharidosis, MPS-III-C C0086649 252930 16 Feb 2016 Disease Mucopolysaccharidosis, MPS-III-D C0086650 252940 16 Feb 2016 Disease Mucopolysaccharidosis, MPS-IV-A NCBI curation C0086651 253000 16 Feb 2016 Disease Mucopolysaccharidosis, MPS-IV-B C0086652 253010 16 Feb 2016 Disease Mucopolysaccharidosis, type II, mild form NCBI curation C0342842 09 Jan 2017 Disease Mucopolysaccharidosis, type II, severe form NCBI curation C0342841 09 Jan 2017 Disease Mucopolysaccharidosis, type vi, intermediate NCBI curation C4017252 16 Oct 2016 Disease Mucopolysaccharidosis, type vi, mild NCBI curation C4017254 16 Oct 2016 Disease Mucopolysaccharidosis, type vi, severe NCBI curation C4017253 16 Oct 2016 Disease Mucopolysaccharidosis-plus syndrome NCBI curation C4310627 617303 20 Jun 2017 Disease Mucopolysacchariduria Human Phenotype Ontology C4024726 HP:0008155 16 Feb 2016 Finding Mucosa-associated lymphoma NCBI curation C0242647 16 Feb 2016 Disease Mucosal Melanoma NCBI curation C3898222 23 Aug 2018 Disease Mucosal telangiectasiae Human Phenotype Ontology C4022020 HP:0100579 16 Feb 2016 Finding Mucositis MONDO MONDO:0020579 17 Apr 2020 Disease Mucous membrane pemphigoid MONDO C0030804 MONDO:0018746 17 Apr 2020 Disease Mucus inspissation of respiratory tract NCBI curation C1854729 253240 16 Feb 2016 Disease Muenke syndrome C1864436 602849 16 Feb 2016 Disease Muir-Torré syndrome NCBI curation C1321489 158320 16 Feb 2016 Disease Mulberry molar Human Phenotype Ontology C0266024 HP:0011092 16 Feb 2016 Finding Mulchandani-Bhoj-Conlin syndrome NCBI curation C4275029 617352 20 Jun 2017 Disease Mulibrey nanism syndrome C0524582 253250 16 Feb 2016 Disease MULLEGAMA-KLEIN-MARTINEZ SYNDROME OMIM C5193008 301022 301022 25 Oct 2019 Disease Mullerian agenesis 16 Feb 2016 Disease Mullerian aplasia C0431637 16 Feb 2016 Disease Mullerian aplasia and hyperandrogenism NCBI curation C2675014 158330 16 Feb 2016 Disease Mullerian derivatives, persistent 16 Feb 2016 Disease Mullerian derivatives-lymphangiectasia-polydactyly syndrome MONDO C1856159 MONDO:0009333 235255 17 Apr 2020 Disease Mullerian duct abnormalities galactosemia 16 Feb 2016 Disease Mullerian duct anomalies-limb anomalies syndrome MONDO C1840335 MONDO:0007795 146160 17 Apr 2020 Disease Mulliez Roux Loterman syndrome 16 Feb 2016 Disease Multi-infarct dementia C0011263 16 Feb 2016 Disease Multi-minicore disease and atypical periodic paralysis NCBI curation CN221543 16 Feb 2016 Disease Multibacillary leprosy NCBI curation C1562585 16 Feb 2016 Infectious disease Multicentric carpo-tarsal osteolysis with or without nephropathy MONDO C2674705 MONDO:0008152 166300 17 Apr 2020 Disease Multicentric femoral head ossification Human Phenotype Ontology C1846447 HP:0008835 16 Feb 2016 Finding Multicentric ossification of proximal femoral epiphyses Human Phenotype Ontology C1857193 HP:0006450 16 Feb 2016 Finding Multicentric ossification of proximal humeral epiphyses Human Phenotype Ontology C1857192 HP:0004997 16 Feb 2016 Finding Multicentric osteolysis, nodulosis and arthropathy NCBI curation C1850155 259600 16 Feb 2016 Disease Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders CN239151 02 Dec 2016 Disease Multicentric papillary thyroid carcinoma MONDO C1334817 MONDO:0004101 17 Apr 2020 Disease Multicentric plasma cell variant of Castleman's disease NCBI curation C3541461 16 Feb 2016 Disease Multicentric reticulohistiocytosis C0311284 16 Feb 2016 Disease Multicore disease 16 Feb 2016 Disease Multicore myopathy, moderate, with hand involvement NCBI curation 16 Feb 2016 Disease Multicystic kidney dysplasia Human Phenotype Ontology C3714581 HP:0000003 16 Feb 2016 Finding Multidrug-resistant nephrotic syndrome Human Phenotype Ontology C4022834 HP:0012589 16 Feb 2016 Finding Multidrug-resistant tuberculosis MONDO C0206526 MONDO:0005861 04 Jun 2020 Infectious disease Multifocal atrial tachycardia Human Phenotype Ontology C0221158 HP:0011701 16 Feb 2016 Finding Multifocal breast carcinoma Human Phenotype Ontology C2986662 HP:0006625 16 Feb 2016 Finding Multifocal cerebral white matter abnormalities Human Phenotype Ontology C1833434 HP:0007052 16 Feb 2016 Finding Multifocal choroiditis C1533060 16 Feb 2016 Disease Multifocal dystonia MONDO MONDO:0000478 17 Apr 2020 Disease Multifocal epileptiform discharges Human Phenotype Ontology C4021219 HP:0010841 16 Feb 2016 Finding Multifocal fibrosclerosis C0494949 228800 16 Feb 2016 Disease Multifocal heterotopia 16 Feb 2016 Disease Multifocal lymphangioendotheliomatosis with thrombocytopenia 16 Feb 2016 Disease Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome MONDO CN242151 MONDO:0018735 17 Apr 2020 Disease Multifocal motor neuropathy MONDO C0393847 MONDO:0018979 17 Apr 2020 Disease Multifocal motor neuropathy with conduction block 16 Feb 2016 Disease Multifocal osteogenic sarcoma MONDO C1334820 MONDO:0002622 17 Apr 2020 Disease Multifocal pattern dystrophy simulating fundus flavimaculatus MONDO C4509881 MONDO:0020382 17 Apr 2020 Disease Multifocal seizures Human Phenotype Ontology C3281034 HP:0031165 04 Apr 2018 Finding Multifocal splenic abscess Human Phenotype Ontology C4476575 HP:0025060 02 Apr 2017 Finding Multifocal sub-RPE deposits Human Phenotype Ontology C4531062 HP:0031533 04 Apr 2018 Finding Multifocal subretinal deposits Human Phenotype Ontology C4531065 HP:0031530 04 Apr 2018 Finding Multifocal ventricular premature beats 16 Feb 2016 Disease Multilocular clear cell renal cell carcinoma MONDO C0346249 MONDO:0003010 17 Apr 2020 Disease Multiloculated renal cyst MONDO C0431719 MONDO:0019983 17 Apr 2020 Disease Multiminicore congenital myopathy 20 Jun 2019 Finding Multiminicore Disease NCBI curation 16 Feb 2016 Disease Multiminicore disease, moderate, with hand involvement NCBI curation C1861753 16 Feb 2016 Disease Multiminicore/minicore/multicore disease CN221587 16 Feb 2016 Disease Multinodular goiter Human Phenotype Ontology C0342208 HP:0005987 16 Feb 2016 Disease Multinodular goiter cystic kidney polydactyly 16 Feb 2016 Disease Multinodular goiter-cystic kidney-polydactyly syndrome MONDO C1841853 MONDO:0007680 138790 17 Apr 2020 Disease Multinucleated giant chondrocytes in epiphyseal cartilage Human Phenotype Ontology C4022506 HP:0030330 16 Feb 2016 Finding Multiple acyl-CoA dehydrogenase deficiency MONDO C0268596 MONDO:0009282 231680 09 May 2020 Disease Multiple acyl-CoA dehydrogenase deficiency, mild type MONDO CN205005 MONDO:0018333 17 Apr 2020 Disease Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type MONDO CN205004 MONDO:0018332 17 Apr 2020 Disease Multiple affected family members with microcephaly, spasticity, seizures and contractures CN275196 27 Jun 2017 Finding Multiple anomalies and Developmental Delay CN232345 16 Feb 2016 Finding Multiple bilateral congenital hypertrophy of retinal pigment epithelium Human Phenotype Ontology C4021144 HP:0011529 16 Feb 2016 Finding Multiple bilateral pneumothoraces Human Phenotype Ontology C4025099 HP:0005939 16 Feb 2016 Finding Multiple biliary hamartomas Human Phenotype Ontology C4316799 HP:0025519 04 Apr 2018 Finding Multiple bladder diverticula Human Phenotype Ontology C4022817 HP:0012619 16 Feb 2016 Finding Multiple bony cystic lesions Human Phenotype Ontology C4023063 HP:0012065 16 Feb 2016 Finding Multiple cafe-au-lait spots Human Phenotype Ontology C1861975 HP:0007565 114030 04 Apr 2018 Disease multiple café au lait spots 05 Sep 2019 Finding Multiple carboxylase deficiency MONDO C0026755 MONDO:0015454 17 Apr 2020 Disease Multiple carboxylase deficiency, biotin responsive 16 Feb 2016 Disease Multiple carboxylase deficiency, juvenile-onset NCBI curation 16 Feb 2016 Disease Multiple carboxylase deficiency, late onset 16 Feb 2016 Disease Multiple carboxylase deficiency, propionic acidemia 16 Feb 2016 Disease Multiple carpal ossification centers Human Phenotype Ontology C1835573 HP:0006067 16 Feb 2016 Finding Multiple chemical sensitivity MONDO C0242992 MONDO:0005862 17 Apr 2020 Disease multiple clots by 5 months 13 Oct 2017 Finding Multiple congenital anomalies NCBI curation C0000772 16 Feb 2016 Disease Multiple congenital anomalies _ Allergy/Immunologic/Infectious (child onset) CN232471 16 Feb 2016 Finding Multiple congenital anomalies _ Audiologic/Otolaryngologic (child onset) CN232476 16 Feb 2016 Finding Multiple congenital anomalies _ Cardiovascular (child onset) CN232477 16 Feb 2016 Finding Multiple congenital anomalies _ Craniofacial (child onset) CN232478 16 Feb 2016 Finding Multiple congenital anomalies _ Gastrointestinal (child onset) CN232479 16 Feb 2016 Finding Multiple congenital anomalies _ Musculoskeletal/Structural (child onset) CN232480 16 Feb 2016 Finding Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect MONDO MONDO:0016779 17 Apr 2020 Disease Multiple congenital anomalies mental retardation, growth failure and cleft lip palate 16 Feb 2016 Disease Multiple congenital anomalies syndrome with cloverleaf skull NCBI curation C1846671 607161 16 Feb 2016 Disease Multiple congenital anomalies-hypotonia-seizures syndrome OMIM phenotypic series C5191419 PS614080 16 Feb 2016 Disease Multiple congenital anomalies-hypotonia-seizures syndrome Orphanet C5191419 ORPHA280633 16 Feb 2016 Disease Multiple congenital anomalies-hypotonia-seizures syndrome 1 NCBI curation C3279775 614080 16 Feb 2016 Disease Multiple congenital anomalies-hypotonia-seizures syndrome 2 NCBI curation C3275508 300868 16 Feb 2016 Disease Multiple congenital anomalies-hypotonia-seizures syndrome 3 NCBI curation C3809356 615398 16 Feb 2016 Disease Multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO CN197501 MONDO:0015161 17 Apr 2020 Disease Multiple congenital anomalies/dysmorphic syndrome-intellectual disability CN197499 16 Feb 2016 Disease Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome MONDO CN197500 MONDO:0015160 17 Apr 2020 Disease Multiple congenital contractures 16 Feb 2016 Disease Multiple congenital exostosis C0015306 133700 16 Feb 2016 Disease Multiple cranial nerve palsy MONDO C0154733 MONDO:0001819 17 Apr 2020 Disease Multiple Cutaneous and Mucosal Venous Malformations GeneReviews C1838437 NBK1967 600195 16 Feb 2016 Disease Multiple Cutaneous and Uterine Leiomyomas CN239164 02 Dec 2016 Disease Multiple cutaneous malignancies Human Phenotype Ontology C4024834 HP:0007606 16 Feb 2016 Finding Multiple digital exostoses Human Phenotype Ontology C4025162 HP:0005655 16 Feb 2016 Finding multiple endocrine abnormalities CN238835 27 Oct 2016 Finding Multiple endocrine neoplasia OMIM phenotypic series C0027662 PS131100 16 Feb 2016 Disease Multiple endocrine neoplasia IIA CN233048 16 Feb 2016 Disease Multiple endocrine neoplasia IIB CN259055 14 Jun 2019 Disease Multiple endocrine neoplasia, type 1 NCBI curation C0025267 131100 16 Feb 2016 Disease Multiple endocrine neoplasia, type 2 NCBI curation C4048306 16 Feb 2016 Disease Multiple endocrine neoplasia, type 2a NCBI curation C0025268 171400 16 Feb 2016 Disease Multiple endocrine neoplasia, type 2b NCBI curation C0025269 162300 16 Feb 2016 Disease Multiple endocrine neoplasia, type 4 NCBI curation C1970712 610755 16 Feb 2016 Disease MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE C4016286 16 Feb 2016 Disease MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA C4016285 16 Feb 2016 Disease Multiple endrocrine neoplasia CN234398 16 Feb 2016 Finding Multiple epiphyseal dysplasia (disease) MONDO C0026760 MONDO:0016648 17 Apr 2020 Disease Multiple epiphyseal dysplasia 1 NCBI curation C1838280 132400 17 Apr 2016 Disease Multiple epiphyseal dysplasia 6 NCBI curation C2675767 614135 16 Feb 2016 Disease Multiple epiphyseal dysplasia and pseudoachondroplasia MONDO CN229202 MONDO:0019692 17 Apr 2020 Disease Multiple epiphyseal dysplasia due to collagen 9 anomaly MONDO C4707798 MONDO:0015627 17 Apr 2020 Disease Multiple epiphyseal dysplasia type 4 MONDO C1847593 MONDO:0009189 226900 22 Apr 2020 Disease Multiple epiphyseal dysplasia type 5 MONDO C1846843 MONDO:0011765 607078 22 Apr 2020 Disease Multiple epiphyseal dysplasia with robin phenotype NCBI curation C1832112 601560 16 Feb 2016 Disease Multiple Epiphyseal Dysplasia, Dominant GeneReviews CN043640 NBK1123 16 Feb 2016 Disease Multiple episodes of seizures 20 Jun 2019 Finding Multiple eruptive milia NCBI curation C0343079 157400 16 Feb 2016 Disease Multiple exostoses type 1 NCBI curation CN263289 22 Feb 2020 Disease Multiple exostoses type 2 NCBI curation C1851413 133701 16 Feb 2016 Disease Multiple exostoses with spastic tetraparesis MONDO C1834724 MONDO:0008020 158345 17 Apr 2020 Disease Multiple fibroadenomas of the breast NCBI curation C3809918 615554 16 Feb 2016 Disease Multiple fibrofolliculomas C0346010 135150 16 Feb 2016 Disease multiple food allergies 05 Sep 2019 Finding Multiple gastrointestinal atresias C0220744 243150 16 Feb 2016 Disease Multiple glomerular cysts Human Phenotype Ontology C4022013 HP:0100611 16 Feb 2016 Finding Multiple intestinal neurofibromatosis Human Phenotype Ontology C4025233 HP:0005220 16 Feb 2016 Finding Multiple joint contractures Human Phenotype Ontology C0158118 HP:0002828 16 Feb 2016 Finding Multiple joint dislocation Human Phenotype Ontology C0332792 HP:0012095 16 Feb 2016 Finding Multiple joint dislocations metaphyseal dysplasia 16 Feb 2016 Disease MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS 07 May 2016 Disease MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS 07 May 2016 Disease Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects NCBI curation C3278404 245600 16 Feb 2016 Disease Multiple lentigines Human Phenotype Ontology C1328931 HP:0001003 16 Feb 2016 Finding Multiple lineage myelodysplasia Human Phenotype Ontology C4023021 HP:0012148 16 Feb 2016 Finding Multiple lipomas Human Phenotype Ontology C0745730 HP:0001012 16 Feb 2016 Finding Multiple long-bone exostoses Human Phenotype Ontology C1835583 HP:0005039 16 Feb 2016 Finding Multiple malformation 02 Dec 2019 Finding Multiple metaphyseal dysplasia MONDO CN229203 MONDO:0019693 17 Apr 2020 Disease Multiple mitochondrial DNA deletion syndrome MONDO CN202053 MONDO:0016797 17 Apr 2020 Disease Multiple mitochondrial DNA deletions Human Phenotype Ontology C3277376 HP:0003689 16 Feb 2016 Finding Multiple mitochondrial dysfunctions syndrome OMIM phenotypic series C3502075 PS605711 16 Feb 2016 Disease Multiple mitochondrial dysfunctions syndrome 1 NCBI curation C3276432 605711 16 Feb 2016 Disease Multiple mitochondrial dysfunctions syndrome 2 NCBI curation C3280378 614299 16 Feb 2016 Disease Multiple mitochondrial dysfunctions syndrome 3 NCBI curation C3809165 615330 16 Feb 2016 Disease Multiple mitochondrial dysfunctions syndrome 4 NCBI curation C4225348 616370 16 Feb 2016 Disease MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 OMIM C4539919 617613 617613 12 Aug 2017 Disease MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 OMIM C4693741 617954 617954 04 May 2018 Disease multiple morphologic abnormalities of the sperm flagellum 30 Jun 2018 Disease multiple morphological abnormalities of the sperm fagella 29 Apr 2020 Finding Multiple mucosal neuromas Human Phenotype Ontology C1334828 HP:0031023 04 Apr 2018 Finding Multiple muscular ventricular septal defects Human Phenotype Ontology C4023263 HP:0011625 16 Feb 2016 Finding Multiple myeloma Human Phenotype Ontology C0026764 HP:0006775 254500 16 Feb 2016 Disease Multiple myeloma, resistance to NCBI curation C4016764 16 Feb 2016 Disease MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO 05 Mar 2017 Disease Multiple myeloma, translocation 11,14 type NCBI curation CN186214 16 Feb 2016 Disease Multiple nevi C0700199 15 Mar 2016 Finding Multiple nevi, Absent eyebrows CN235287 20 Feb 2016 Finding Multiple non-erupting secondary teeth Human Phenotype Ontology C1848904 HP:0006321 16 Feb 2016 Finding Multiple organ failure MONDO C0026766 MONDO:0043726 17 Apr 2020 Disease Multiple palmar creases Human Phenotype Ontology C1861872 HP:0006114 16 Feb 2016 Finding Multiple pancreatic beta-cell adenomas Human Phenotype Ontology C4024718 HP:0008194 16 Feb 2016 Finding Multiple paragangliomas associated with polycythemia MONDO CN204064 MONDO:0017926 17 Apr 2020 Disease Multiple periventricular bifrontal cysts NCBI curation CN240897 08 Mar 2017 Finding Multiple personality disorder MONDO C0026773 MONDO:0001159 17 Apr 2020 Disease Multiple plantar creases Human Phenotype Ontology C1861873 HP:0008113 16 Feb 2016 Finding Multiple polyglandular tumor MONDO CN260830 MONDO:0015079 17 Apr 2020 Disease Multiple prenatal fractures Human Phenotype Ontology C1853171 HP:0005855 16 Feb 2016 Finding Multiple pterygia Human Phenotype Ontology C1867448 HP:0001040 16 Feb 2016 Finding Multiple pterygium syndrome, lethal type (LMPS) - CHRNG CN235361 01 Mar 2016 Disease Multiple renal cysts Human Phenotype Ontology C0431718 HP:0005562 16 Feb 2016 Finding Multiple respiratory chain enzyme deficiencies 16 Feb 2016 Disease Multiple rib fractures Human Phenotype Ontology C0272567 HP:0006640 16 Feb 2016 Finding Multiple rows of eyelashes Human Phenotype Ontology C3550336 HP:0008496 16 Feb 2016 Finding Multiple sclerosis Orphanet C0026769 ORPHA802 16 Feb 2016 Disease Multiple sclerosis ichthyosis factor 8 deficiency 16 Feb 2016 Disease Multiple sclerosis modifier of disease progression NCBI curation CN069138 16 Feb 2016 Disease Multiple sclerosis susceptibility NCBI curation C1868685 126200 16 Feb 2016 Disease Multiple sclerosis susceptibility 1 NCBI curation C3888106 16 Feb 2016 Disease Multiple sclerosis variant MONDO CN261840 MONDO:0016428 17 Apr 2020 Disease Multiple sclerosis, susceptibility to, 2 NCBI curation C2675478 612594 24 Aug 2016 Disease Multiple sclerosis, susceptibility to, 3 NCBI curation C2675477 612595 24 Aug 2016 Disease Multiple sclerosis, susceptibility to, 4 NCBI curation C2675476 612596 24 Aug 2016 Disease Multiple sclerosis, susceptibility to, 5 NCBI curation C3553728 614810 16 Feb 2016 Disease Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome MONDO C4518551 MONDO:0017837 17 Apr 2020 Disease Multiple skeletal anomalies Human Phenotype Ontology C4025138 HP:0005775 16 Feb 2016 Finding Multiple skull base meningioma MONDO C1334829 MONDO:0004094 17 Apr 2020 Disease Multiple small bowel atresias Human Phenotype Ontology C1857476 HP:0004797 16 Feb 2016 Finding Multiple small medullary renal cysts Human Phenotype Ontology C4024644 HP:0008659 16 Feb 2016 Finding Multiple small vertebral fractures Human Phenotype Ontology C4025119 HP:0005877 16 Feb 2016 Finding Multiple spinal canal and spinal cord meningioma MONDO C1334825 MONDO:0004317 17 Apr 2020 Disease Multiple sulfatase deficiency C0268263 272200 16 Feb 2016 Disease Multiple suture craniosynostosis Human Phenotype Ontology C4021161 HP:0011324 16 Feb 2016 Finding Multiple synostoses syndrome 2 C1832708 610017 16 Feb 2016 Disease Multiple synostoses syndrome 3 NCBI curation C2751826 612961 16 Feb 2016 Disease MULTIPLE SYNOSTOSES SYNDROME 4 OMIM C4693531 617898 617898 06 Mar 2018 Disease Multiple synostosis syndrome NCBI curation C0175700 20 Jan 2020 Disease Multiple system atrophy MONDO C3714927 MONDO:0007803 146500 07 May 2020 Disease Multiple system atrophy, cerebellar type MONDO CN201371 MONDO:0016418 17 Apr 2020 Disease Multiple system atrophy, parkinsonian type MONDO CN207200 MONDO:0020352 17 Apr 2020 Disease Multiple thyroid cysts 23 Jan 2020 Finding Multiple trichilemmomata Human Phenotype Ontology C4021063 HP:0012846 16 Feb 2016 Finding Multiple unerupted teeth Human Phenotype Ontology C4025069 HP:0006283 16 Feb 2016 Finding Multiple vascular aneurysms 26 Sep 2019 Finding Multiple vertebral anomalies unusual facies 16 Feb 2016 Disease multiple vertebral segmentation defects CN234770 16 Feb 2016 Finding multiple visceral malformations CN225193 16 Feb 2016 Finding Multisystem disorder NCBI curation C0559758 16 Feb 2016 Disease Multisystemic smooth muscle dysfunction syndrome NCBI curation C3151201 613834 16 Feb 2016 Disease Mumps 16 Feb 2016 Disease Mumps infectious disease MONDO C0026780 MONDO:0000989 04 Jun 2020 Infectious disease Munchausen by proxy MONDO C0085277 MONDO:0000597 17 Apr 2020 Disease Munchausen by proxy syndrome 16 Feb 2016 Disease Mungan syndrome C1969653 611376 16 Feb 2016 Disease Murine acquired immunodeficiency syndrome MONDO MONDO:0025487 17 Apr 2020 Disease Murray valley encephalitis MONDO C0153066 MONDO:0001137 04 Jun 2020 Infectious disease Muscle abnormality related to mitochondrial dysfunction Human Phenotype Ontology C4025566 HP:0003800 16 Feb 2016 Finding Muscle AMP deaminase deficiency NCBI curation C3714933 615511 16 Feb 2016 Disease Muscle cancer MONDO MONDO:0005864 17 Apr 2020 Disease Muscle cramps Human Phenotype Ontology C0037763 HP:0003394 16 Feb 2016 Finding Muscle cramps, familial NCBI curation C1834708 158400 16 Feb 2016 Disease Muscle dystrophy 18 Jul 2019 Disease Muscle eye brain disease C0457133 253280 16 Feb 2016 Disease Muscle fiber actin filament accumulation Human Phenotype Ontology C4476648 HP:0025200 02 Apr 2017 Finding Muscle fiber atrophy Human Phenotype Ontology C0333751 HP:0100295 16 Feb 2016 Finding Muscle fiber cytoplasmatic inclusion bodies Human Phenotype Ontology C4022157 HP:0100303 16 Feb 2016 Finding Muscle fiber hyaline bodies Human Phenotype Ontology C4022155 HP:0100306 16 Feb 2016 Finding Muscle fiber hypertrophy Human Phenotype Ontology C0333759 HP:0100293 16 Feb 2016 Finding Muscle fiber inclusion bodies Human Phenotype Ontology C4022159 HP:0100299 16 Feb 2016 Finding Muscle fiber intranuclear inclusion bodies Human Phenotype Ontology C4022156 HP:0100304 16 Feb 2016 Finding Muscle fiber necrosis Human Phenotype Ontology C1850848 HP:0003713 16 Feb 2016 Finding Muscle fiber splitting Human Phenotype Ontology C1836057 HP:0003555 16 Feb 2016 Finding Muscle fiber tubular inclusions Human Phenotype Ontology C4021024 HP:0100301 16 Feb 2016 Finding Muscle fiber tubuloreticular inclusions Human Phenotype Ontology C4021023 HP:0100302 16 Feb 2016 Finding Muscle fibrillation Human Phenotype Ontology C0231531 HP:0010546 16 Feb 2016 Finding Muscle flaccidity Human Phenotype Ontology C0026825 HP:0010547 16 Feb 2016 Finding Muscle haemorrhage Human Phenotype Ontology C0151702 HP:0040242 02 Apr 2017 Finding Muscle hyperirritability Human Phenotype Ontology C1853701 HP:0003559 16 Feb 2016 Finding Muscle hypertrophy NCBI curation C0236033 614160 16 Feb 2016 Disease Muscle hypertrophy of the lower extremities Human Phenotype Ontology C1850663 HP:0008968 16 Feb 2016 Finding muscle hypotonia with dystonia 15 Nov 2019 Finding Muscle mounding Human Phenotype Ontology C1853702 HP:0003719 16 Feb 2016 Finding Muscle specific kinase antibody positivity Human Phenotype Ontology C4021044 HP:0030210 16 Feb 2016 Finding Muscle stiffness Human Phenotype Ontology C0221170 HP:0003552 16 Feb 2016 Finding Muscle stiffness, painful NCBI curation C1838818 16 Feb 2016 Disease Muscle strength quantitative trait locus 1 NCBI curation C2677532 612083 16 Feb 2016 Disease Muscle weakness Human Phenotype Ontology C0151786 HP:0001324 16 Feb 2016 Finding muscle weakness and paralysis NCBI curation CN280894 12 May 2020 Disease Muscle weakness. High CK. Biopsy with fat infiltration. 24 Oct 2017 Finding Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus C0342281 158500 16 Feb 2016 Disease Muscular atrophy, malignant neurogenic NCBI curation C1834689 158650 16 Feb 2016 Disease Muscular cardiac diverticulum Human Phenotype Ontology C4022021 HP:0100573 16 Feb 2016 Finding Muscular channelopathy MONDO CN229176 MONDO:0019119 17 Apr 2020 Disease Muscular disease MONDO MONDO:0005218 17 Apr 2020 Disease Muscular Diseases;Myopathy, Central Core PharmGKB 17 Feb 2017 Disease Muscular Diseases;Rhabdomyolysis PharmGKB 17 Feb 2017 Disease Muscular dystrophy C0026850 16 Feb 2016 Disease Muscular Dystrophy - Late Onset 16 Feb 2016 Disease Muscular dystrophy and arthrogryposis CN221559 16 Feb 2016 Disease Muscular dystrophy limb girdle type 2A, Erb type 16 Feb 2016 Disease Muscular dystrophy white matter spongiosis 16 Feb 2016 Disease Muscular dystrophy, adult-onset, with leukoencephalopathy NCBI curation C1854646 253590 16 Feb 2016 Disease MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, WITH CARDIOMYOPATHY AND TRIANGULAR TONGUE CN260150 29 Sep 2018 Disease Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures CN260130 20 Jun 2019 Disease Muscular dystrophy, barnes type NCBI curation C1834688 158800 16 Feb 2016 Disease Muscular dystrophy, cardiac type NCBI curation C1442927 309930 16 Feb 2016 Disease Muscular dystrophy, congenital, 1b NCBI curation C1858118 604801 16 Feb 2016 Disease Muscular dystrophy, congenital, davignon-chauveau type NCBI curation C4310736 617066 24 Aug 2016 Disease Muscular dystrophy, congenital, due to integrin alpha-7 deficiency NCBI curation C2750786 613204 16 Feb 2016 Disease Muscular dystrophy, congenital, due to ITGA7 deficiency CN187051 16 Feb 2016 Disease Muscular dystrophy, congenital, with cataracts and intellectual disability NCBI curation C4479410 617404 20 Jun 2017 Disease Muscular dystrophy, congenital, with cerebellar atrophy NCBI curation C1864028 603323 16 Feb 2016 Disease Muscular dystrophy, congenital, with rapid progression NCBI curation C1850840 254100 16 Feb 2016 Disease Muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers NCBI curation C1832665 601170 16 Feb 2016 Disease MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD 28 Nov 2018 Disease Muscular dystrophy, EmeryNot providedDreifuss NCBI curation 16 Feb 2016 Disease Muscular dystrophy, hemizygous lethal type NCBI curation C1839671 309950 16 Feb 2016 Disease MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 OMIM C4748295 618129 618129 27 Sep 2018 Disease MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 OMIM C4748327 618138 618138 07 Oct 2018 Disease MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26 OMIM CN280722 618848 618848 22 Apr 2020 Disease MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6, DIGENIC 27 Sep 2018 Disease Muscular dystrophy, limb-girdle, type 2R NCBI curation C3809137 28 Sep 2018 Disease Muscular dystrophy, limb-girdle, type 2W NCBI curation C4225192 616827 24 Aug 2016 Disease Muscular dystrophy, limb-girdle, type 2X NCBI curation C4225199 616812 24 Aug 2016 Disease Muscular dystrophy, limb-girdle, type 2y NCBI curation C4310731 617072 24 Aug 2016 Disease Muscular dystrophy, limb-girdle, type 2z NCBI curation C4310660 617232 20 Jun 2017 Disease Muscular dystrophy, mabry type NCBI curation C1839670 310000 16 Feb 2016 Disease Muscular dystrophy, progressive pectorodorsal NCBI curation C1839669 310095 16 Feb 2016 Disease Muscular dystrophy, pseudohypertrophic, with internalized capillaries NCBI curation C1834652 159050 16 Feb 2016 Disease Muscular dystrophy-dystroglycanopathy CN229783 16 Feb 2016 Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 NCBI curation C4284790 236670 03 Jan 2019 Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 NCBI curation C3554381 615041 24 Aug 2016 Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 NCBI curation C3554638 615181 24 Aug 2016 Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 NCBI curation C3808964 615249 24 Aug 2016 Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 NCBI curation C3809042 615287 24 Aug 2016 Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 NCBI curation C3809216 615350 24 Aug 2016 Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 C3151519 16 Feb 2016 Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 CN260106 20 Jun 2019 Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 NCBI curation C3553813 614830 24 Aug 2016 Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 NCBI curation C4225291 616538 24 Aug 2016 Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 CN260107 20 Jun 2019 Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 CN260108 20 Jun 2019 Disease Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 NCBI curation C3809221 615351 20 Jun 2017 Disease Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 NCBI curation C4015184 616094 20 Jun 2017 Disease Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 NCBI curation C3714932 615352 20 Jun 2017 Disease Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 NCBI curation C4015095 616052 20 Jun 2017 Disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8 OMIM C4748320 618135 618135 03 Oct 2018 Disease Muscular dystrophy-dystroglycanopathy, type B OMIM phenotypic series CN228400 PS613155 16 Feb 2016 Disease Muscular dystrophy-dystroglycanopathy, type C OMIM phenotypic series CN262500 PS609308 18 Jun 2017 Disease Muscular dystrophy-white matter spongiosis syndrome MONDO CN200619 MONDO:0015994 17 Apr 2020 Disease Muscular edema Human Phenotype Ontology C4021979 HP:0100748 16 Feb 2016 Finding Muscular fibrosis multifocal obstructed vessels 16 Feb 2016 Disease Muscular glycogenosis MONDO CN229023 MONDO:0016118 17 Apr 2020 Disease Muscular hypertonia, lethal NCBI curation C1850827 254120 16 Feb 2016 Disease Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome MONDO C4751007 MONDO:0017932 17 Apr 2020 Disease Muscular hypoplasia, congenital universal, of krabbe NCBI curation C1834651 159100 16 Feb 2016 Disease Muscular hypotonia Human Phenotype Ontology C0026827 HP:0001252 16 Feb 2016 Finding Muscular hypotonia of the trunk Human Phenotype Ontology C1853743 HP:0008936 16 Feb 2016 Finding muscular incoordination 18 Jan 2019 Finding Muscular phosphorylase kinase deficiency 16 Feb 2016 Disease Muscular pseudohypertrophy-hypothyroidism syndrome MONDO C0270958 MONDO:0016521 17 Apr 2020 Disease Muscular subvalvular aortic stenosis Human Phenotype Ontology C3887554 HP:0001691 16 Feb 2016 Finding Muscular ventricular septal aneurysm Human Phenotype Ontology C4476876 HP:0030959 04 Apr 2018 Finding Muscular ventricular septal defect Human Phenotype Ontology C0685707 HP:0011623 16 Feb 2016 Finding muscular wasting and disuse atrophy 14 Mar 2019 Finding musculoskeletal anomaly 05 Sep 2019 Finding Musculoskeletal disease with cataract MONDO CN207060 MONDO:0020232 17 Apr 2020 Disease musculoskeletal symptoms 05 Sep 2019 Finding Musculoskeletal system benign neoplasm MONDO MONDO:0000636 17 Apr 2020 Disease Musculoskeletal system cancer MONDO MONDO:0000637 17 Apr 2020 Disease Musculoskeletal system disease MONDO C0026857 MONDO:0002081 17 Apr 2020 Disease Musculoskeletal/Structural (adult onset) 13 Apr 2018 Finding Musculoskeletal/Structural (child onset) CN232543 16 Feb 2016 Finding Musculotendinous retraction Human Phenotype Ontology C4531103 HP:0031462 04 Apr 2018 Finding Mushroom workers' lung MONDO C0155889 MONDO:0005865 17 Apr 2020 Disease Musical aptitude quantitative trait locus NCBI curation C2676725 612343 16 Feb 2016 Disease Musical perfect pitch NCBI curation C1834650 159300 16 Feb 2016 Disease Musician's dystonia NCBI curation 16 Feb 2016 Disease Musk, inability to smell NCBI curation C1850807 254150 16 Feb 2016 Disease Musty odor Human Phenotype Ontology C4477065 HP:0410021 04 Apr 2018 Finding Mutagen sensitivity C1864867 610452 16 Feb 2016 Disease Mutilating keratoderma C0265964 124500 16 Feb 2016 Disease Mutiple parosteal osteochondromatous proliferations 16 Feb 2016 Disease Mutism Human Phenotype Ontology C0026884 HP:0002300 16 Feb 2016 Finding MUTYH-associated polyposis NCBI curation C3272841 16 Mar 2018 Disease MVK-Related Disorders CN239294 02 Dec 2016 Disease Myalgia Human Phenotype Ontology C0231528 HP:0003326 16 Feb 2016 Finding Myalgia eosinophilia associated with tryptophan 16 Feb 2016 Disease Myalgia-eosinophilia syndrome associated with tryptophan MONDO C1275050 MONDO:0016822 17 Apr 2020 Disease Myalgic encephalomeyelitis/chronic fatigue syndrome MONDO C0015674 MONDO:0005404 17 Apr 2020 Disease Myasthenia gravis C0026896 254200 16 Feb 2016 Disease Myasthenia gravis with thymus hyperplasia NCBI curation C1846838 607085 16 Feb 2016 Disease Myasthenia, congenital, 12, with tubular aggregates CN259056 14 Jun 2019 Disease Myasthenia, congenital, refractory to acetylcholinesterase inhibitors NCBI curation C1850806 254190 16 Feb 2016 Disease Myasthenia, familial 16 Feb 2016 Disease Myasthenia, limb-girdle, familial NCBI curation C1850792 254300 16 Feb 2016 Disease Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency NCBI curation C4225367 616326 16 Feb 2016 Disease Myasthenic syndrome, congenital, 13, with tubular aggregates CN259057 14 Jun 2019 Disease Myasthenic syndrome, congenital, 14 NCBI curation C4015597 616228 24 Aug 2016 Disease Myasthenic syndrome, congenital, 14, with tubular aggregates CN259058 14 Jun 2019 Disease Myasthenic syndrome, congenital, 15 NCBI curation C4015596 616227 24 Aug 2016 Disease Myasthenic syndrome, congenital, 15, without tubular aggregates CN260109 20 Jun 2019 Disease Myasthenic syndrome, congenital, 17 NCBI curation C4225377 616304 16 Feb 2016 Disease Myasthenic syndrome, congenital, 18 NCBI curation C4225364 616330 16 Feb 2016 Disease Myasthenic syndrome, congenital, 19 NCBI curation C4225235 616720 16 Feb 2016 Disease Myasthenic syndrome, congenital, 20, presynaptic NCBI curation C4310694 617143 03 Nov 2016 Disease Myasthenic syndrome, congenital, 21, presynaptic NCBI curation C4310654 617239 20 Jun 2017 Disease Myasthenic syndrome, congenital, 22 NCBI curation C4479088 616224 20 Jun 2017 Disease MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC OMIM C4748678 618197 618197 30 Nov 2018 Disease MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC OMIM C4748684 618198 618198 01 Dec 2018 Disease Myasthenic syndrome, congenital, 25 CN260110 20 Jun 2019 Disease MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC OMIM C5193027 618323 618323 20 Feb 2019 Disease Myasthenic syndrome, congenital, 2a, slow-channel NCBI curation C4225374 616313 16 Feb 2016 Disease Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency NCBI curation C4225373 616314 16 Feb 2016 Disease Myasthenic syndrome, congenital, 3a, slow-channel NCBI curation C4225372 616321 16 Feb 2016 Disease Myasthenic syndrome, congenital, 3b, fast-channel NCBI curation C4225371 616322 16 Feb 2016 Disease Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency NCBI curation C4225370 616323 16 Feb 2016 Disease Myasthenic syndrome, congenital, 4a, slow-channel NCBI curation C4225413 605809 24 Aug 2016 Disease Myasthenic syndrome, congenital, 4b, fast-channel NCBI curation C4225369 616324 16 Feb 2016 Disease Myasthenic syndrome, congenital, 7, presynaptic NCBI curation C4015038 616040 24 Aug 2016 Disease Myasthenic syndrome, congenital, 8 NCBI curation C3808739 615120 24 Aug 2016 Disease Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects CN260111 20 Jun 2019 Disease Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency NCBI curation C4225368 616325 27 Jul 2016 Disease Myasthenic syndrome, congenital, with facial dysmorphism, associated with acetylcholine receptor deficiency NCBI curation C1837092 16 Feb 2016 Disease Myasthenic syndrome, slow-channel congenital NCBI curation C4084823 601462 16 Feb 2016 Disease MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome MONDO CN258557 MONDO:0044682 17 Apr 2020 Disease MYBPC1-related condition 27 Apr 2018 Finding MYBPC3-Related Disorders CN239295 02 Dec 2016 Disease Mycetoma C0024449 16 Feb 2016 Infectious disease Mycobacterial and viral infections, susceptibility to, autosomal recessive NCBI curation C3151088 613796 16 Feb 2016 Disease Mycobacterial infectious disease MONDO C0026918 MONDO:0020590 04 Jun 2020 Infectious disease Mycobacterium Abscessus 16 Feb 2016 Disease Mycobacterium Avium Complex 16 Feb 2016 Disease Mycobacterium avium complex disease MONDO C0026916 MONDO:0005866 04 Jun 2020 Infectious disease Mycobacterium Chelonae 16 Feb 2016 Disease Mycobacterium fortuitum 16 Feb 2016 Disease Mycobacterium Gordonae 16 Feb 2016 Disease Mycobacterium Kansasii 16 Feb 2016 Disease Mycobacterium Malmoense 16 Feb 2016 Disease Mycobacterium tuberculosis 1 NCBI curation C1842762 607949 16 Feb 2016 Disease Mycobacterium tuberculosis 2 NCBI curation C1970235 611046 16 Feb 2016 Disease Mycobacterium tuberculosis 3 NCBI curation C2752035 612929 16 Feb 2016 Disease Mycobacterium tuberculosis, protection against NCBI curation C1969665 16 Feb 2016 Disease Mycobacterium tuberculosis, susceptibility MONDO MONDO:0000070 17 Apr 2020 Disease Mycobacterium tuberculosis, susceptibility to NCBI curation C1834752 607948 16 Feb 2016 Disease Mycobacterium tuberculosis, susceptibility to infection by C2936833 16 Feb 2016 Disease Mycobacterium tuberculosis, susceptibility to, X-linked NCBI curation C1866629 300259 16 Feb 2016 Disease Mycobacterium xenopi infection MONDO CN281825 MONDO:0017832 07 Jun 2020 Infectious disease Mycophenolate mofetil embryopathy MONDO C4509879 MONDO:0017055 17 Apr 2020 Disease Mycoplasma encephalitis MONDO CN272866 MONDO:0019377 04 Jun 2020 Infectious disease Mycoplasma pneumoniae pneumonia MONDO C0032302 MONDO:0005867 04 Jun 2020 Infectious disease Mycoplasmal pneumonia 16 Feb 2016 Disease Mycosis fungoides C0026948 254400 16 Feb 2016 Disease Mycosis fungoides and variants MONDO CN226743 MONDO:0015821 17 Apr 2020 Disease Mycosis fungoides variant MONDO C1513782 MONDO:0045071 17 Apr 2020 Disease Mycotic corneal ulcer MONDO C0155071 MONDO:0001033 17 Apr 2020 Disease Mycotic endocarditis MONDO C0276648 MONDO:0042433 04 Jun 2020 Infectious disease Mycotoxicosis MONDO MONDO:0042497 17 Apr 2020 Disease Myd88 deficiency NCBI curation C2677092 612260 16 Feb 2016 Disease Mydriasis Human Phenotype Ontology C0026961 HP:0011499 16 Feb 2016 Finding Mydriatic response to pharmacologic agents NCBI curation C1834634 159410 16 Feb 2016 Disease Myelin outfoldings Human Phenotype Ontology C1843168 HP:0004336 16 Feb 2016 Finding Myelin tomacula Human Phenotype Ontology C4020904 HP:0030175 16 Feb 2016 Finding Myelin-dependent gliosis Human Phenotype Ontology C4024954 HP:0006990 16 Feb 2016 Finding Myelin-like whorls in vacuolated fibers Human Phenotype Ontology C4531054 HP:0031542 04 Apr 2018 Finding Myelinated optic nerve fibers NCBI curation C1834600 159500 16 Feb 2016 Disease Myelinopathies 16 Feb 2016 Disease Myelitis Human Phenotype Ontology C0026975 HP:0012486 16 Feb 2016 Disease Myelocele C0086664 12 Apr 2018 Finding Myelocystocele Human Phenotype Ontology C4551677 HP:0030709 02 Apr 2017 Finding Myelodysplasia Human Phenotype Ontology C0026985 HP:0002863 16 Feb 2016 Disease Myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay NCBI curation C1832442 601347 16 Feb 2016 Disease Myelodysplastic myeloproliferative disease 16 Feb 2016 Disease Myelodysplastic syndrome NCBI curation C3463824 614286 16 Feb 2016 Disease Myelodysplastic syndrome progressed to acute myeloid leukemia CN234857 16 Feb 2016 Disease Myelodysplastic syndrome with excess blasts MONDO C0002894 MONDO:0019454 17 Apr 2020 Disease Myelodysplastic syndrome with excess blasts-1 MONDO C1318550 MONDO:0015040 17 Apr 2020 Disease Myelodysplastic syndrome with excess blasts-2 MONDO C1318551 MONDO:0015041 17 Apr 2020 Disease Myelodysplastic Syndrome with Single Lineage Dysplasia C2826318 15 Mar 2019 Disease Myelodysplastic syndromes 16 Feb 2016 Disease Myelofibrosis Human Phenotype Ontology C0001815 HP:0011974 254450 16 Feb 2016 Disease Myelofibrosis with myeloid metaplasia NCBI curation C0026987 16 Feb 2016 Disease Myeloid and lymphoid neoplasms associated with FGFR1 abnormalities MONDO MONDO:0000884 17 Apr 2020 Disease Myeloid and lymphoid neoplasms associated with PDGFRA rearrangement MONDO C2827360 MONDO:0000882 17 Apr 2020 Disease Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 MONDO C2827356 MONDO:0000881 17 Apr 2020 Disease Myeloid hemopathy MONDO CN228977 MONDO:0015756 17 Apr 2020 Disease Myeloid leukemia Human Phenotype Ontology C0023470 HP:0012324 16 Feb 2016 Disease Myeloid Leukemia Associated with Down Syndrome C2825149 15 Mar 2019 Disease Myeloid leukemia, acute, m4eo subtype NCBI curation 16 Feb 2016 Disease Myeloid neoplasm MONDO C2939461 MONDO:0005170 17 Apr 2020 Disease Myeloid neoplasm associated with PDGFRA rearrangement MONDO C4545381 MONDO:0015689 17 Apr 2020 Disease Myeloid neoplasm associated with PDGFRB rearrangement MONDO C3472621 MONDO:0015690 17 Apr 2020 Disease Myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1 MONDO CN228971 MONDO:0015688 17 Apr 2020 Disease Myeloid neoplasms associated with PDGFRB rearrangement MONDO C2827361 MONDO:0000883 17 Apr 2020 Disease Myeloid sarcoma NCBI curation C4721505 16 Feb 2016 Disease Myeloid splenomegaly 16 Feb 2016 Disease Myeloid tumor suppressor NCBI curation C1832510 601308 16 Feb 2016 Disease Myelokathexis Human Phenotype Ontology C0272173 HP:0031160 04 Apr 2018 Finding Myelokathexis, isolated NCBI curation C1834176 16 Feb 2016 Disease Myelolymphatic insufficiency NCBI curation C1839650 310350 16 Feb 2016 Disease Myelomeningocele Human Phenotype Ontology C0025312 HP:0002475 16 Feb 2016 Finding Myelopathy Human Phenotype Ontology C0037928 HP:0002196 16 Feb 2016 Finding Myeloperoxidase deficiency NCBI curation C0398595 254600 16 Feb 2016 Disease Myelophthisic anemia MONDO C0002890 MONDO:0005868 17 Apr 2020 Disease Myeloproliferative disease, autosomal recessive NCBI curation C1850779 254700 16 Feb 2016 Disease Myeloproliferative disorder Human Phenotype Ontology C0027022 HP:0005547 16 Feb 2016 Disease Myeloproliferative disorder, chronic, with eosinophilia MONDO C1851585 MONDO:0007546 131440 17 Apr 2020 Disease Myeloproliferative Neoplasm NCBI curation C1292778 02 Mar 2017 Disease Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to NCBI curation C4225174 616871 24 Aug 2016 Disease Myeloschisis Human Phenotype Ontology C0266507 HP:0030708 02 Apr 2017 Finding Myelosuppression NCBI curation C0854467 16 Feb 2016 Disease MYH-associated polyposis NCBI curation C1837991 608456 16 Feb 2016 Disease MYH2-related myopathy 11 Oct 2018 Disease MYH3-Related Disorders CN239329 02 Dec 2016 Disease MYH6-Related Disorders 23 May 2019 Disease MYH7-Related Disorders CN239297 02 Dec 2016 Disease MYH7-related late-onset scapuloperoneal muscular dystrophy MONDO C4759774 MONDO:0008409 181430 17 Apr 2020 Disease MYH9-related disorder C1854520 02 Dec 2016 Disease Myhre Ruvalcaba Graham syndrome 16 Feb 2016 Disease Myhre Ruvalcaba Kelley syndrome 16 Feb 2016 Disease Myhre School syndrome 16 Feb 2016 Disease Myhre syndrome NCBI curation C0796081 139210 16 Feb 2016 Disease Myiasis MONDO C0027030 MONDO:0019147 04 Jun 2020 Infectious disease MYL2-Related Disorders 23 May 2019 Disease MYO16-associated developmental delay 12 Apr 2019 Disease MYO5B-related progressive familial intrahepatic cholestasis MONDO CN776887 MONDO:0018804 17 Apr 2020 Disease MYO7A-related disorder 29 Aug 2019 Disease MYO7A-Related Disorders CN239407 02 Dec 2016 Disease MYOC-Related Disorders CN239330 02 Dec 2016 Disease Myocardial bridging Human Phenotype Ontology C0948355 HP:0025490 04 Apr 2018 Finding Myocardial calcification Human Phenotype Ontology C1096561 HP:0006690 16 Feb 2016 Finding Myocardial disorder MONDO C3241958 MONDO:0024643 17 Apr 2020 Disease Myocardial eosinophilic infiltration Human Phenotype Ontology C4531200 HP:0031323 04 Apr 2018 Finding Myocardial fibrosis Human Phenotype Ontology C0151654 HP:0001685 16 Feb 2016 Finding Myocardial granulomatous infiltrates Human Phenotype Ontology C4531198 HP:0031325 04 Apr 2018 Finding Myocardial immune cell infiltration Human Phenotype Ontology C4531202 HP:0031321 04 Apr 2018 Finding Myocardial infarction Human Phenotype Ontology C0027051 HP:0001658 06 Jul 2018 Disease Myocardial infarction 1 NCBI curation C1832662 608446 16 Feb 2016 Disease Myocardial infarction 2 NCBI curation C1837871 608557 16 Feb 2016 Disease Myocardial infarction, association with CN231089 16 Feb 2016 Disease Myocardial infarction, decreased susceptibility to NCBI curation 16 Feb 2016 Disease Myocardial infarction, protection against NCBI curation C3277063 16 Feb 2016 Disease Myocardial ischemia MONDO C0151744 MONDO:0024644 17 Apr 2020 Disease Myocardial lymphocytic infiltration Human Phenotype Ontology C4531201 HP:0031322 04 Apr 2018 Finding Myocardial multinucleated giant cells Human Phenotype Ontology C4531199 HP:0031324 04 Apr 2018 Finding Myocardial necrosis Human Phenotype Ontology C1442837 HP:0001700 16 Feb 2016 Finding Myocardial rupture MONDO C0018813 MONDO:0020983 17 Apr 2020 Disease Myocardial sarcomeric disarray Human Phenotype Ontology C4531190 HP:0031333 04 Apr 2018 Finding Myocardial steatosis Human Phenotype Ontology C4025000 HP:0006693 16 Feb 2016 Finding Myocardial stunning MONDO C0206146 MONDO:0004876 17 Apr 2020 Disease Myocarditis Human Phenotype Ontology C0027059 HP:0012819 16 Feb 2016 Disease Myocardium cancer MONDO C0346611 MONDO:0004749 17 Apr 2020 Disease myoclonias 13 Feb 2020 Finding Myoclonic absences Human Phenotype Ontology C4023512 HP:0011150 16 Feb 2016 Finding Myoclonic atonic seizures Human Phenotype Ontology C0393702 HP:0011170 16 Feb 2016 Finding Myoclonic dystonia C1834570 159900 16 Feb 2016 Disease Myoclonic dystonia 15 MONDO C1843786 MONDO:0011844 607488 22 Apr 2020 Disease Myoclonic encephalopathy NCBI curation C0438414 16 Feb 2016 Disease Myoclonic encephalopathy in non-progressive disorder MONDO MONDO:0100026 17 Apr 2020 Disease myoclonic epilepsy CN263315 12 Sep 2018 Disease Myoclonic epilepsy in non-progressive encephalopathies MONDO MONDO:0019488 17 Apr 2020 Disease Myoclonic epilepsy myopathy sensory ataxia NCBI curation C1843852 16 Feb 2016 Disease Myoclonic epilepsy of infancy MONDO C0751120 MONDO:0019486 17 Apr 2020 Disease Myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders NCBI curation C1858478 604363 16 Feb 2016 Disease Myoclonic epilepsy, familial infantile NCBI curation C0917800 605021 16 Feb 2016 Disease Myoclonic epilepsy, hartung type NCBI curation C1834581 159600 16 Feb 2016 Disease Myoclonic epilepsy, juvenile 1 NCBI curation 16 Feb 2016 Disease Myoclonic epilepsy, juvenile 3 NCBI curation C1837308 608816 16 Feb 2016 Disease Myoclonic epilepsy, juvenile 4 NCBI curation C1969656 611364 16 Feb 2016 Disease Myoclonic epilepsy, juvenile, 2 NCBI curation 16 Feb 2016 Disease myoclonic seizure 13 Feb 2020 Finding Myoclonic spasms Human Phenotype Ontology C3806442 HP:0003739 16 Feb 2016 Finding Myoclonic-atonic epilepsy NCBI curation C4085238 616421 16 Feb 2016 Disease Myoclonus Human Phenotype Ontology C0027066 HP:0001336 16 Feb 2016 Finding Myoclonus and ataxia MONDO C1834580 MONDO:0008042 159700 17 Apr 2020 Disease Myoclonus ataxia 16 Feb 2016 Disease Myoclonus cerebellar ataxia deafness 16 Feb 2016 Disease Myoclonus epilepsy partial seizure 16 Feb 2016 Disease Myoclonus hereditary progressive distal muscular atrophy 16 Feb 2016 Disease Myoclonus, cerebellar ataxia, and deafness NCBI curation C1834579 159800 16 Feb 2016 Disease Myoclonus, familial 1 NCBI curation C3539916 614937 30 Dec 2019 Disease MYOCLONUS, FAMILIAL, 2 OMIM C5193056 618364 618364 23 Mar 2019 Disease Myoclonus, intractable, neonatal NCBI curation C4310658 617235 20 Jun 2017 Disease Myoepithelial tumor MONDO C0027070 MONDO:0002380 17 Apr 2020 Disease Myofascial pain syndrome MONDO C0027073 MONDO:0006862 17 Apr 2020 Disease Myofiber disarray Human Phenotype Ontology C3671015 HP:0031318 04 Apr 2018 Finding Myofibrillar lysis 16 Feb 2016 Disease Myofibrillar myopathy Human Phenotype Ontology C2678065 HP:0003715 16 Feb 2016 Disease Myofibrillar myopathy 1 NCBI curation C1832370 601419 16 Feb 2016 Disease Myofibrillar myopathy 3 NCBI curation C3714934 609200 25 Nov 2018 Disease Myofibrillar myopathy, BAG3-related NCBI curation C2751831 612954 16 Feb 2016 Disease Myofibrillar Myopathy, Dominant CN239446 02 Dec 2016 Disease Myofibrillar myopathy, filamin C-related NCBI curation C1836050 609524 16 Feb 2016 Disease Myofibrillar myopathy, ZASP-related NCBI curation C4721886 609452 16 Feb 2016 Disease Myofibroblastoma MONDO C0242404 MONDO:0040675 17 Apr 2020 Disease myofibromatosis C0206648 26 Jan 2017 Finding Myofibromatosis, juvenile NCBI curation 16 Feb 2016 Disease myoglobinopathy 05 Feb 2019 Finding Myoglobinuria Human Phenotype Ontology C0027080 HP:0002913 16 Feb 2016 Disease Myoglobinuria dominant form 16 Feb 2016 Disease Myoglobinuria, acute recurrent, autosomal recessive NCBI curation C1849386 268200 16 Feb 2016 Disease Myoglobinuria, autosomal dominant NCBI curation C1834567 160010 16 Feb 2016 Disease Myoglobinuria, recurrent Human Phenotype Ontology C1838877 HP:0003652 550500 22 Apr 2020 Disease Myoglobinuria, recurrent MONDO C1838877 MONDO:0010791 550500 22 Apr 2020 Disease Myokymia Human Phenotype Ontology C0684219 HP:0002411 16 Feb 2016 Finding Myokymia 1 NCBI curation C2674766 16 Feb 2016 Disease Myokymia 1 with hypomagnesemia NCBI curation C4016334 16 Feb 2016 Disease Myokymia 1 with or without hypomagnesemia NCBI curation CN042654 16 Feb 2016 Disease Myokymia with neonatal epilepsy 16 Feb 2016 Disease MYOM1-related disorder 13 Oct 2017 Disease Myopathic facies Human Phenotype Ontology C0332615 HP:0002058 16 Feb 2016 Finding Myopathic intestinal pseudoobstruction MONDO MONDO:0015191 17 Apr 2020 Disease Myopathy Human Phenotype Ontology C0026848 HP:0003198 29 May 2020 Disease Myopathy cataract hypogonadism 16 Feb 2016 Disease Myopathy congenital multicore with external ophthalmoplegia 16 Feb 2016 Disease Myopathy due to malate-aspartate shuttle defect NCBI curation C1850744 254960 16 Feb 2016 Disease Myopathy growth and mental retardation hypospadias 16 Feb 2016 Disease Myopathy mitochondrial cataract 16 Feb 2016 Disease Myopathy of extraocular muscle MONDO C0155286 MONDO:0004746 17 Apr 2020 Disease Myopathy ophthalmoplegia hypoacousia areflexia 16 Feb 2016 Disease Myopathy with cataract and combined respiratory-chain deficiency 16 Feb 2016 Disease Myopathy with extrapyramidal signs NCBI curation C3810285 615673 16 Feb 2016 Disease Myopathy with eye involvement MONDO MONDO:0020259 17 Apr 2020 Disease Myopathy with giant abnormal mitochondria NCBI curation C1850717 255140 16 Feb 2016 Disease Myopathy with hexagonally cross-linked tubular arrays MONDO C4707259 MONDO:0015755 17 Apr 2020 Disease Myopathy with lactic acidosis, hereditary NCBI curation C1850718 255125 16 Feb 2016 Disease Myopathy with lysis of myofibrils 16 Feb 2016 Disease Myopathy with postural muscle atrophy, X-linked NCBI curation C2678055 300696 16 Feb 2016 Disease Myopathy with storage of glycoproteins and glycosaminoglycans NCBI curation C1834532 160570 16 Feb 2016 Disease Myopathy with tubular aggregates NCBI curation C0410207 18 Jan 2020 Disease Myopathy, actin, congenital, with cores NCBI curation C2750537 16 Feb 2016 Disease Myopathy, actin, congenital, with excess of thin myofilaments NCBI curation C1834339 16 Feb 2016 Disease Myopathy, areflexia, respiratory distress, and dysphagia, early-onset NCBI curation C3280679 614399 16 Feb 2016 Disease Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant NCBI curation C3541476 16 Feb 2016 Disease Myopathy, autophagic vacuolar, infantile-onset NCBI curation C2931230 609500 16 Feb 2016 Disease Myopathy, centronuclear OMIM phenotypic series CN221282 PS160150 16 Feb 2016 Disease Myopathy, centronuclear, 1 NCBI curation C4551952 160150 16 Feb 2016 Disease Myopathy, centronuclear, 3 NCBI curation 16 Feb 2016 Disease Myopathy, centronuclear, 4 NCBI curation C3553709 614807 16 Feb 2016 Disease Myopathy, centronuclear, 5 NCBI curation C4014814 615959 16 Feb 2016 Disease MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION OMIM C4540345 617760 617760 09 Nov 2017 Disease MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF 16 Feb 2016 Disease MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS OMIM CN263394 618823 618823 27 Mar 2020 Disease Myopathy, congenital, compton-north NCBI curation C2675527 612540 16 Feb 2016 Disease MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS OMIM C5231417 618578 618578 15 Sep 2019 Disease Myopathy, congenital, with excess of muscle spindles NCBI curation C1968782 16 Feb 2016 Disease Myopathy, congenital, with fiber-type disproportion, X-linked NCBI curation C2749128 300580 26 May 2016 Disease Myopathy, congenital, with neuropathy and deafness NCBI curation C4479603 617519 20 Jun 2017 Disease MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES OMIM CN263393 618822 618822 27 Mar 2020 Disease MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES OMIM C5231445 618654 618654 10 Nov 2019 Disease MYOPATHY, CONGENITAL, WITH TREMOR OMIM C5231401 618524 618524 23 Aug 2019 Disease Myopathy, distal, 1 NCBI curation C4552004 160500 16 Feb 2016 Disease Myopathy, distal, 3 NCBI curation C1864706 610099 16 Feb 2016 Disease Myopathy, distal, 4 NCBI curation C3279722 614065 16 Feb 2016 Disease Myopathy, distal, 5 NCBI curation C4310754 617030 24 Aug 2016 Disease MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT OMIM C5203349 618655 618655 10 Nov 2019 Disease Myopathy, distal, infantile-onset NCBI curation C4011725 160300 24 Aug 2016 Disease Myopathy, distal, with anterior tibial onset NCBI curation C1847532 606768 16 Feb 2016 Disease Myopathy, early-onset, with fatal cardiomyopathy NCBI curation C2673677 611705 16 Feb 2016 Disease Myopathy, granulovacuolar lobular, with electrical myotonia NCBI curation C1850745 254950 16 Feb 2016 Disease Myopathy, isolated mitochondrial, autosomal dominant NCBI curation C4015513 616209 16 Feb 2016 Disease Myopathy, lactic acidosis, and sideroblastic anemia 1 NCBI curation C4551958 600462 16 Feb 2016 Disease Myopathy, lactic acidosis, and sideroblastic anemia 2 NCBI curation C3150802 613561 16 Feb 2016 Disease Myopathy, lactic acidosis, and sideroblastic anemia 3 NCBI curation C4225415 500011 16 Feb 2016 Disease Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay NCBI curation C2751320 613076 16 Feb 2016 Disease Myopathy, mitochondrial, late-onset NCBI curation C4016623 16 Feb 2016 Disease Myopathy, mitochondrial, with diabetes mellitus NCBI curation C4016608 16 Feb 2016 Disease Myopathy, myofibrillar, 7 NCBI curation C4310711 617114 20 Jun 2017 Disease Myopathy, myofibrillar, 8 NCBI curation C4310645 617258 20 Jun 2017 Disease Myopathy, myofibrillar, 9, with early respiratory failure NCBI curation C1863599 603689 07 Jan 2020 Disease Myopathy, myosin storage, autosomal recessive NCBI curation C1850709 255160 24 Aug 2016 Disease Myopathy, progressive axial with cataracts CN221568 16 Feb 2016 Disease Myopathy, proximal, and ophthalmoplegia MONDO C1854106 MONDO:0011577 605637 22 Apr 2020 Disease Myopathy, reducing body, X-linked, childhood-onset NCBI curation C4225159 300718 16 Feb 2016 Disease Myopathy, reducing body, X-linked, early-onset, severe NCBI curation C4225423 300717 16 Feb 2016 Disease Myopathy, RYR1-associated CN221567 16 Feb 2016 Disease Myopathy, scapulohumeroperoneal NCBI curation C4225181 616852 26 May 2016 Disease Myopathy, tubular aggregate, 1 NCBI curation C4011726 160565 18 Jan 2020 Disease Myopathy, tubular aggregate, 2 NCBI curation C4014557 615883 16 Feb 2016 Disease Myopathy, vacuolar, with casq1 aggregates NCBI curation C4015624 616231 16 Feb 2016 Disease Myopathy-growth delay-intellectual disability-hypospadias syndrome MONDO MONDO:0016827 17 Apr 2020 Disease Myopericytoma MONDO C1302808 MONDO:0017349 17 Apr 2020 Disease myopia (2 diopters) 05 Sep 2018 Finding Myopia (disease) MONDO C0027092 MONDO:0001384 17 Apr 2020 Disease Myopia 1, X-linked NCBI curation C1839612 310460 16 Feb 2016 Disease Myopia 10 NCBI curation C1836503 609259 16 Feb 2016 Disease Myopia 11, autosomal dominant NCBI curation C1864941 609994 16 Feb 2016 Disease Myopia 12, autosomal dominant NCBI curation C1864940 609995 16 Feb 2016 Disease Myopia 13, X-linked NCBI curation C1845096 300613 16 Feb 2016 Disease Myopia 14 NCBI curation C1853196 610320 16 Feb 2016 Disease Myopia 15, autosomal dominant NCBI curation C2675180 612717 16 Feb 2016 Disease Myopia 16, autosomal dominant NCBI curation C2675523 612554 16 Feb 2016 Disease Myopia 17, autosomal dominant NCBI curation C3888211 608367 16 Feb 2016 Disease Myopia 18, autosomal recessive NCBI curation C2749509 255500 16 Feb 2016 Disease Myopia 19, autosomal dominant NCBI curation C3151410 613969 16 Feb 2016 Disease Myopia 2, autosomal dominant NCBI curation C1834531 160700 16 Feb 2016 Disease Myopia 20, autosomal dominant NCBI curation C3279996 614166 16 Feb 2016 Disease Myopia 21, autosomal dominant NCBI curation C3279997 614167 16 Feb 2016 Disease Myopia 22, autosomal dominant NCBI curation C3809464 615420 16 Feb 2016 Disease Myopia 23, autosomal recessive NCBI curation C3809482 615431 16 Feb 2016 Disease Myopia 24, autosomal dominant NCBI curation C4014762 615946 16 Feb 2016 Disease Myopia 25, autosomal dominant NCBI curation C4310655 617238 20 Jun 2017 Disease MYOPIA 26, X-LINKED, FEMALE-LIMITED OMIM C4538795 301010 301010 24 Dec 2017 Disease MYOPIA 27 OMIM CN263398 618827 618827 29 Mar 2020 Disease Myopia 3, autosomal dominant NCBI curation C1864111 603221 16 Feb 2016 Disease Myopia 5, autosomal dominant NCBI curation C1837972 608474 16 Feb 2016 Disease Myopia 6 C1837148 608908 16 Feb 2016 Disease Myopia 7 NCBI curation C1836506 609256 16 Feb 2016 Disease Myopia 8 NCBI curation C1836505 609257 16 Feb 2016 Disease Myopia 9 NCBI curation C1836504 609258 16 Feb 2016 Disease Myopia, high, with cataract and vitreoretinal degeneration NCBI curation C3280346 614292 16 Feb 2016 Disease Myopia, infantile severe 16 Feb 2016 Disease myopic disc present on fundus examination 13 Feb 2020 Finding Myopic macular degeneration MONDO C0730271 MONDO:0015807 17 Apr 2020 Disease Myosclerosis C1611706 02 Dec 2016 Disease Myosclerosis, autosomal recessive NCBI curation C1850671 255600 16 Feb 2016 Disease Myosin storage myopathy NCBI curation C1842160 608358 16 Feb 2016 Disease Myosin, cardiac, heavy chain variant NCBI curation 16 Feb 2016 Disease Myositis Human Phenotype Ontology C0027121 HP:0100614 160750 01 Jun 2018 Disease Myositis fibrosa MONDO C0158362 MONDO:0004881 17 Apr 2020 Disease Myositis, eosinophilic NCBI curation C1299884 16 Feb 2016 Disease Myospherulosis MONDO C0027123 MONDO:0017628 17 Apr 2020 Disease Myostatin-related muscle hypertrophy NCBI curation C2931112 16 Feb 2016 Disease Myotonia Human Phenotype Ontology C0027125 HP:0002486 16 Feb 2016 Finding Myotonia atrophica 16 Feb 2016 Disease Myotonia congenita NCBI curation C0027127 16 Feb 2016 Disease Myotonia congenita, atypical, acetazolamide-responsive NCBI curation C4016869 16 Feb 2016 Disease Myotonia levior NCBI curation C0270959 16 Feb 2016 Disease Myotonia mental retardation skeletal anomalies 16 Feb 2016 Disease Myotonia of the face Human Phenotype Ontology C4022686 HP:0012900 16 Feb 2016 Finding Myotonia of the jaw Human Phenotype Ontology C4022685 HP:0012901 16 Feb 2016 Finding Myotonia of the lower limb Human Phenotype Ontology C4022684 HP:0012902 16 Feb 2016 Finding Myotonia of the upper limb Human Phenotype Ontology C4022683 HP:0012903 16 Feb 2016 Finding Myotonia with warm-up phenomenon Human Phenotype Ontology C4025575 HP:0003740 16 Feb 2016 Finding Myotonic cataract MONDO C0027128 MONDO:0004495 17 Apr 2020 Disease Myotonic dystrophy OMIM phenotypic series C0027126 PS160900 16 Feb 2016 Disease Myotonic dystrophy type 2 C2931689 602668 16 Feb 2016 Disease Myotonic dystrophy-like myopathy NCBI curation C4016604 16 Feb 2016 Disease Myotonic myopathy with cylindrical spirals NCBI curation C1834418 160990 16 Feb 2016 Disease Myotonic syndrome MONDO C0553604 MONDO:0016120 17 Apr 2020 Disease Myotubular myopathy with abnormal genital development NCBI curation C1846169 300219 16 Feb 2016 Disease Myringitis bullosa hemorrhagica MONDO C0155461 MONDO:0001803 17 Apr 2020 Disease Myrinotomy tubes 23 Jan 2020 Finding Myxedema C0027145 255900 16 Feb 2016 Disease Myxofibrosarcoma MONDO C3714524 MONDO:0019202 17 Apr 2020 Disease Myxoid chondrosarcoma MONDO C0334551 MONDO:0003681 17 Apr 2020 Disease Myxoid leiomyosarcoma MONDO C0205816 MONDO:0003359 17 Apr 2020 Disease Myxoid liposarcoma Human Phenotype Ontology C0206634 HP:0012268 613488 16 Feb 2016 Disease Myxoid subcutaneous tumors Human Phenotype Ontology C1834421 HP:0006769 16 Feb 2016 Finding Myxoma-spotty pigmentation-endocrine overactivity 16 Feb 2016 Disease Myxomatous mitral valve degeneration Human Phenotype Ontology C4721438 HP:0004764 16 Feb 2016 Finding Myxomatous peritonitis 16 Feb 2016 Disease Myxopapillary ependymoma C0205769 16 Feb 2016 Disease Myxosarcoma MONDO C0027155 MONDO:0006863 17 Apr 2020 Disease Myxozoa 16 Feb 2016 Disease Ménière's disease NCBI curation C0025281 156000 16 Feb 2016 Disease N acetyltransferase deficiency 16 Feb 2016 Disease N syndrome C2936859 310465 16 Feb 2016 Disease N-acetyl glucosamine 6-sulfate sulfatase deficiency 16 Feb 2016 Disease N-acetyl-alpha-D-galactosaminidase deficiency type III 16 Feb 2016 Disease N-acetylaspartate deficiency NCBI curation C3279716 614063 16 Feb 2016 Disease N-FORMYLPEPTIDE RECEPTOR POLYMORPHISM 12 Apr 2020 Disease N-terminal acetyltransferase deficiency NCBI curation C3275447 300855 16 Feb 2016 Disease Nabothian cyst MONDO C0027269 MONDO:0006313 17 Apr 2020 Disease Nadh-cytochrome b5 reductase deficiency, type I C2749561 26 May 2016 Disease NADH-cytochrome b5 reductase deficiency, type II NCBI curation C2749562 08 Apr 2018 Disease NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM 16 Feb 2016 Disease Naegeli-Franceschetti-Jadassohn syndrome C0343111 161000 16 Feb 2016 Disease Naevus flammeus of the eyelid Human Phenotype Ontology C1854409 HP:0010733 16 Feb 2016 Finding NAGA DEFICIENCY, TYPE III 16 Feb 2016 Disease NAGA-Related Disorders 23 May 2019 Disease Nager syndrome C0265245 154400 16 Feb 2016 Disease Nail anomaly MONDO CN205926 MONDO:0019283 17 Apr 2020 Disease Nail bed hemorrhage Human Phenotype Ontology C0877087 HP:0030254 16 Feb 2016 Finding Nail bed telangiectasia Human Phenotype Ontology C1838167 HP:0001232 16 Feb 2016 Finding Nail disease NCBI curation C0027339 16 Feb 2016 Disease Nail disorder, nonsyndromic congenital, 1 NCBI curation C0406443 161050 17 Apr 2020 Disease Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails) CN259060 14 Jun 2019 Disease Nail disorder, nonsyndromic congenital, 3, (leukonychia) CN259061 14 Jun 2019 Disease Nail disorder, nonsyndromic congenital, 5 NCBI curation C1833909 164800 16 Feb 2016 Disease Nail disorder, nonsyndromic congenital, 6 NCBI curation C3275544 107000 24 Aug 2016 Disease Nail disorder, nonsyndromic congenital, 8 NCBI curation C1843761 607523 16 Feb 2016 Disease Nail disorder, nonsyndromic congenital, 9 NCBI curation C3279947 614149 16 Feb 2016 Disease Nail dysplasia Human Phenotype Ontology C1834405 HP:0002164 16 Feb 2016 Finding Nail dystrophy Human Phenotype Ontology C0221260 HP:0008404 16 Feb 2016 Finding Nail growth NCBI curation 16 Feb 2016 Disease Nail high-sulfur protein NCBI curation C1834404 161070 16 Feb 2016 Disease Nail infection MONDO C0343026 MONDO:0024487 04 Jun 2020 Infectious disease Nail low-sulfur protein NCBI curation C1834403 161080 16 Feb 2016 Disease Nail patella-like renal disease C0403548 256020 16 Feb 2016 Disease Nail pits Human Phenotype Ontology C0150993 HP:0001803 16 Feb 2016 Finding Nail-biting Human Phenotype Ontology C0027338 HP:0012170 16 Feb 2016 Finding Nail-patella syndrome C0027341 161200 16 Feb 2016 Disease Nailbeds, pigmentation of NCBI curation C1834402 161100 16 Feb 2016 Disease nails of deep implantation 22 Aug 2019 Finding Nakamura Osame syndrome 16 Feb 2016 Disease naloxone response - Efficacy PharmGKB CN236567 655385241 18 May 2016 Pharmacological response naltrexone response - Metabolism/PK PharmGKB CN236602 982034197 18 May 2016 Pharmacological response Namaqualand hip dysplasia NCBI curation C0432214 16 Feb 2016 Disease Nance-Horan syndrome C0796085 302350 16 Feb 2016 Disease Nanophthalmos OMIM phenotypic series CN239917 PS600165 16 Jan 2017 Disease Nanophthalmos 1 NCBI curation C1838502 600165 16 Feb 2016 Disease Nanophthalmos 2 NCBI curation C1836006 609549 16 Feb 2016 Disease Nanophthalmos 3 NCBI curation C2678467 611897 16 Feb 2016 Disease Nanophthalmos 4 NCBI curation C4014848 615972 16 Feb 2016 Disease Naproxen response NCBI curation CN185914 16 Feb 2016 Pharmacological response Narcissistic personality disorder MONDO C0027402 MONDO:0002411 17 Apr 2020 Disease Narcolepsy Human Phenotype Ontology C0027404 HP:0030050 16 Feb 2016 Finding Narcolepsy 1 NCBI curation C1834372 161400 18 Apr 2016 Disease Narcolepsy 2, susceptibility to NCBI curation C1853901 605841 16 Feb 2016 Disease Narcolepsy 3 NCBI curation C1836907 609039 16 Feb 2016 Disease Narcolepsy 4, susceptibility to NCBI curation C2676275 612417 16 Feb 2016 Disease Narcolepsy 5, susceptibility to NCBI curation C2748508 612851 16 Feb 2016 Disease Narcolepsy 6, susceptibility to NCBI curation C3280204 614223 16 Feb 2016 Disease Narcolepsy 7 NCBI curation C3280266 614250 16 Feb 2016 Disease Narcolepsy without cataplexy MONDO C1456240 MONDO:0019371 17 Apr 2020 Disease NARP syndrome MONDO C1328349 MONDO:0010794 551500 22 Apr 2020 Disease narrow and asymmetrical thorax 22 Oct 2019 Finding Narrow anterio-posterior vertebral body diameter Human Phenotype Ontology C4021540 HP:0008473 16 Feb 2016 Finding Narrow carpal joint spaces Human Phenotype Ontology C4021666 HP:0004264 16 Feb 2016 Finding Narrow chest Human Phenotype Ontology C0426790 HP:0000774 16 Feb 2016 Finding Narrow face Human Phenotype Ontology C1837463 HP:0000275 16 Feb 2016 Finding Narrow femoral neck Human Phenotype Ontology C1863739 HP:0008819 16 Feb 2016 Finding Narrow foot Human Phenotype Ontology C0576227 HP:0001786 16 Feb 2016 Finding Narrow foramen obturatorium Human Phenotype Ontology C4021910 HP:0100958 16 Feb 2016 Finding Narrow forehead Human Phenotype Ontology C1839758 HP:0000341 16 Feb 2016 Finding Narrow greater sacrosciatic notches Human Phenotype Ontology C0566888 HP:0003375 16 Feb 2016 Finding Narrow iliac wings Human Phenotype Ontology C1836688 HP:0002868 16 Feb 2016 Finding Narrow incisura width Human Phenotype Ontology C4531260 HP:0031231 04 Apr 2018 Finding Narrow internal auditory canal Human Phenotype Ontology C4023383 HP:0011386 16 Feb 2016 Finding Narrow jaw Human Phenotype Ontology C4021066 HP:0012801 16 Feb 2016 Finding Narrow joint spaces of the elbow Human Phenotype Ontology C4025490 HP:0003944 16 Feb 2016 Finding Narrow joint spaces of wrist Human Phenotype Ontology C4025417 HP:0004048 16 Feb 2016 Finding Narrow maxilla Human Phenotype Ontology C1851835 HP:0002010 16 Feb 2016 Finding Narrow mouth Human Phenotype Ontology C0026034 HP:0000160 16 Feb 2016 Finding Narrow nail Human Phenotype Ontology C4021829 HP:0011313 16 Feb 2016 Finding Narrow naris Human Phenotype Ontology C0426439 HP:0009933 16 Feb 2016 Finding Narrow nasal base Human Phenotype Ontology C4022717 HP:0012809 16 Feb 2016 Finding Narrow nasal bridge Human Phenotype Ontology C4551564 HP:0000446 16 Feb 2016 Finding narrow nasal bridge with hypoplastic nostrils and rounded tip 22 Aug 2019 Finding Narrow nasal ridge Human Phenotype Ontology C1837761 HP:0000418 16 Feb 2016 Finding Narrow nasal septum Human Phenotype Ontology C4024155 HP:0009936 16 Feb 2016 Finding Narrow nasal tip Human Phenotype Ontology C0426433 HP:0011832 16 Feb 2016 Finding Narrow nose Human Phenotype Ontology C0426422 HP:0000460 16 Feb 2016 Finding Narrow oral fissure short stature cone shaped epiphyses 16 Feb 2016 Disease Narrow palate Human Phenotype Ontology C1398312 HP:0000189 16 Feb 2016 Finding Narrow palm Human Phenotype Ontology C1857632 HP:0004283 16 Feb 2016 Finding Narrow palpebral fissure Human Phenotype Ontology C2675021 HP:0045025 02 Apr 2017 Finding Narrow pelvis bone Human Phenotype Ontology C1848103 HP:0003275 16 Feb 2016 Finding Narrow penis Human Phenotype Ontology C4022552 HP:0030262 16 Feb 2016 Finding Narrow philtrum Human Phenotype Ontology C4021115 HP:0011829 16 Feb 2016 Finding Narrow sacroiliac notch Human Phenotype Ontology C1850087 HP:0008803 16 Feb 2016 Finding Narrow small joints of the hand Human Phenotype Ontology C4025382 HP:0004267 16 Feb 2016 Finding Narrow uvula Human Phenotype Ontology C4023696 HP:0010811 16 Feb 2016 Finding Narrow vertebral interpedicular distance Human Phenotype Ontology C1832598 HP:0008450 16 Feb 2016 Finding Nasal alar collapse, bilateral NCBI curation C1834371 161470 16 Feb 2016 Disease Nasal cavity adenocarcinoma MONDO C1334920 MONDO:0003211 17 Apr 2020 Disease Nasal cavity and paranasal sinus carcinoma MONDO C1710095 MONDO:0056819 17 Apr 2020 Disease Nasal cavity and paranasal sinus lethal midline granuloma MONDO C0018197 MONDO:0006828 17 Apr 2020 Disease Nasal cavity and paranasal sinus neoplasm MONDO C1334925 MONDO:0056820 17 Apr 2020 Disease Nasal cavity and paranasal sinus squamous cell carcinoma MONDO C0280332 MONDO:0044787 17 Apr 2020 Disease Nasal cavity cancer MONDO C0728864 MONDO:0001128 17 Apr 2020 Disease Nasal cavity cancer, childhood 16 Feb 2016 Disease Nasal cavity carcinoma MONDO C1377785 MONDO:0003212 17 Apr 2020 Disease Nasal cavity carcinoma in situ MONDO C0347095 MONDO:0003784 17 Apr 2020 Disease Nasal cavity disease MONDO C0339820 MONDO:0002232 17 Apr 2020 Disease Nasal cavity inverting papilloma MONDO C0280336 MONDO:0003065 17 Apr 2020 Disease Nasal cavity lymphoma MONDO C1334921 MONDO:0001130 17 Apr 2020 Disease Nasal cavity neoplasm MONDO C0345630 MONDO:0004756 17 Apr 2020 Disease Nasal cavity olfactory neuroblastoma MONDO C1334923 MONDO:0001129 17 Apr 2020 Disease Nasal cavity squamous cell carcinoma MONDO C0280333 MONDO:0006059 17 Apr 2020 Disease Nasal disorder MONDO C0028432 MONDO:0002436 17 Apr 2020 Disease Nasal dorsum fistula/cyst MONDO CN228939 MONDO:0015410 17 Apr 2020 Disease Nasal encephalocele MONDO C0014066 MONDO:0015394 17 Apr 2020 Disease Nasal fistula 07 Sep 2019 Finding Nasal flaring Human Phenotype Ontology C0277873 HP:0030863 02 Apr 2017 Finding Nasal ganglioglioma MONDO CN261841 MONDO:0015393 17 Apr 2020 Disease Nasal glial heterotopia MONDO C0266490 MONDO:0015392 17 Apr 2020 Disease Nasal groove, familial transverse NCBI curation C1834370 161500 16 Feb 2016 Disease Nasal hyperpigmentation, familial transverse NCBI curation C1834369 161530 16 Feb 2016 Disease Nasal mucosa telangiectasia Human Phenotype Ontology C4025853 HP:0000434 16 Feb 2016 Finding Nasal obstruction Human Phenotype Ontology C0027429 HP:0001742 16 Feb 2016 Finding Nasal polyposis Human Phenotype Ontology C0027430 HP:0100582 16 Feb 2016 Finding Nasal polyposis, familial 16 Feb 2016 Disease Nasal regurgitation Human Phenotype Ontology C0232608 HP:0011469 16 Feb 2016 Finding Nasal speech Human Phenotype Ontology C0566620 HP:0001611 16 Feb 2016 Finding Nasal vestibule squamous papilloma MONDO C0339826 MONDO:0003753 17 Apr 2020 Disease Nasal, dysarthic speech Human Phenotype Ontology C1834664 HP:0008376 16 Feb 2016 Finding Nasofrontal encephalocele Human Phenotype Ontology C0431291 HP:0011818 16 Feb 2016 Finding Nasogastric feeding tube CN235237 19 Feb 2016 Finding Nasogastric tube as needed CN235245 19 Feb 2016 Finding Nasogastric tube feeding Human Phenotype Ontology C3853581 HP:0040288 04 Apr 2018 Finding Nasogastric tube feeding in infancy Human Phenotype Ontology C4023343 HP:0011470 16 Feb 2016 Finding Nasolacrimal duct disease MONDO C0521744 MONDO:0044984 17 Apr 2020 Disease Nasolacrimal duct obstruction Human Phenotype Ontology C1281931 HP:0000579 16 Feb 2016 Finding Nasopalpebral lipoma-coloboma syndrome MONDO C1868660 MONDO:0008182 167730 22 Apr 2020 Disease Nasopharyngeal cancer, childhood 16 Feb 2016 Disease Nasopharyngeal carcinoma NCBI curation C2931822 607107 16 Feb 2016 Disease Nasopharyngeal carcinoma 1 NCBI curation 16 Feb 2016 Disease Nasopharyngeal carcinoma 2 NCBI curation C2750548 161550 16 Feb 2016 Disease Nasopharyngeal carcinoma, susceptibility to, 3 NCBI curation C4310729 617075 24 Aug 2016 Disease Nasopharyngeal diphtheria MONDO C0012558 MONDO:0020866 04 Jun 2020 Infectious disease Nasopharyngeal disease MONDO C0027438 MONDO:0004821 17 Apr 2020 Disease Nasopharyngeal Neoplasms NCBI curation C0027439 02 Mar 2017 Disease Nasopharyngeal squamous cell carcinoma MONDO MONDO:0006060 17 Apr 2020 Disease Nasopharyngeal teratoma Human Phenotype Ontology C4531264 HP:0031227 04 Apr 2018 Finding Nasopharyngitis MONDO C0027441 MONDO:0001040 17 Apr 2020 Disease Nasu-Hakola disease MONDO C1857316 MONDO:0009092 17 Apr 2020 Disease NAT1*10 ALLELE 16 Feb 2016 Named protein variant NAT1*17 ALLELE 16 Feb 2016 Named protein variant Natal teeth-intestinal pseudoobstruction-patent ductus syndrome MONDO C1855732 MONDO:0009467 243185 17 Apr 2020 Disease Natal tooth Human Phenotype Ontology C0027443 HP:0000695 187050 16 Feb 2016 Disease Nathalie syndrome C1850626 255990 16 Feb 2016 Disease Natural killer cell and glucocorticoid deficiency with DNA repair defect NCBI curation C1864947 609981 24 Aug 2016 Disease Nausea Human Phenotype Ontology C0027497 HP:0002018 16 Feb 2016 Finding Nausea and vomiting Human Phenotype Ontology C0027498 HP:0002017 16 Feb 2016 Finding nausea with vomiting 05 Sep 2019 Finding Navajo familial neurogenic arthropathy NCBI curation 16 Feb 2016 Disease Navajo neurohepatopathy NCBI curation C1850406 256810 16 Feb 2016 Disease Navajo poikiloderma 16 Feb 2016 Disease Navicular bone, accessory NCBI curation C1267087 161600 16 Feb 2016 Disease Naxos disease C1832600 601214 16 Feb 2016 Disease NBEA-related developmental delay and generalized epilepsy 19 Jul 2019 Finding NDE1-related microhydranencephaly MONDO C1857977 MONDO:0011504 605013 17 Apr 2020 Disease NDUFAF2-Related Disorders 23 May 2019 Disease NDUFS3-Related Disorders 23 May 2019 Disease NDUFV1-Related Disorders 23 May 2019 Disease Nebivolol Response CN282565 17 Jun 2020 Pharmacological response Nebulin-related early-onset distal myopathy MONDO C5190827 MONDO:0018371 17 Apr 2020 Disease Necatoriasis MONDO C0027528 MONDO:0005870 04 Jun 2020 Infectious disease Neck flexor weakness Human Phenotype Ontology C1843637 HP:0003722 16 Feb 2016 Finding Neck muscle hypertrophy Human Phenotype Ontology C4022690 HP:0012893 16 Feb 2016 Finding Neck muscle hypoplasia Human Phenotype Ontology C1969000 HP:0008984 16 Feb 2016 Finding Neck muscle weakness Human Phenotype Ontology C0240479 HP:0000467 16 Feb 2016 Finding Neck pain Human Phenotype Ontology C0007859 HP:0030833 02 Apr 2017 Finding Neck pterygia Human Phenotype Ontology C1849577 HP:0009759 16 Feb 2016 Finding Necklace skeletal muscle fibers Human Phenotype Ontology C4531254 HP:0031238 04 Apr 2018 Finding Necrobacillosis C0027537 16 Feb 2016 Infectious disease Necrobiotic xanthogranuloma MONDO C1275339 MONDO:0015537 17 Apr 2020 Disease Necrolytic migratory erythema Human Phenotype Ontology C0221243 HP:0031181 04 Apr 2018 Finding Necrosis of ear ossicle MONDO MONDO:0001365 17 Apr 2020 Disease Necrosis of pituitary MONDO C0271558 MONDO:0002721 17 Apr 2020 Disease Necrotic uveal melanoma MONDO C0279695 MONDO:0004365 17 Apr 2020 Disease Necrotizing encephalomyelopathy, subacute, of Leigh, adult NCBI curation C1834340 161700 13 Aug 2016 Disease Necrotizing encephalopathy Human Phenotype Ontology C1396481 HP:0006976 16 Feb 2016 Finding Necrotizing enterocolitis 16 Feb 2016 Disease Necrotizing fasciitis C0238124 16 Feb 2016 Disease Necrotizing gastritis MONDO C0877152 MONDO:0002845 17 Apr 2020 Disease Necrotizing myopathy Human Phenotype Ontology C4024608 HP:0008978 16 Feb 2016 Finding Necrotizing scleritis MONDO C0027547 MONDO:0040699 17 Apr 2020 Disease Necrotizing sialometaplasia MONDO C0037033 MONDO:0006864 17 Apr 2020 Disease Necrotizing soft tissue infection MONDO C2732890 MONDO:0018602 04 Jun 2020 Infectious disease Necrotizing ulcerative gingivitis MONDO C0017575 MONDO:0006865 22 Apr 2020 Disease Negative affectivity Human Phenotype Ontology C4531100 HP:0031467 04 Apr 2018 Finding Negative nitroblue tetrazolium reduction test Human Phenotype Ontology C4280805 HP:0003203 02 Apr 2017 Finding Negative rheumatoid factor polyarthritis C2931825 16 Feb 2016 Disease Neisseria meningitidis 16 Feb 2016 Disease Nelfinavir response CN077997 16 Feb 2016 Pharmacological response Nelson syndrome C1852159 125550 16 Feb 2016 Disease Nemaline bodies Human Phenotype Ontology C3808039 HP:0003798 16 Feb 2016 Finding Nemaline myopathy OMIM phenotypic series C0206157 PS161800 16 Feb 2016 Disease Nemaline myopathy 1 C1836448 609284 16 Feb 2016 Disease Nemaline myopathy 1, autosomal dominant or recessive CN260048 19 Jun 2019 Disease Nemaline myopathy 10 NCBI curation C4015360 616165 16 Feb 2016 Disease Nemaline myopathy 11, autosomal recessive NCBI curation C4479186 617336 20 Jun 2017 Disease Nemaline myopathy 2 C1850569 256030 16 Feb 2016 Disease Nemaline myopathy 2, autosomal recessive CN187052 16 Feb 2016 Disease Nemaline myopathy 3, autosomal dominant or recessive CN187050 16 Feb 2016 Disease Nemaline myopathy 3, with intranuclear rods NCBI curation 16 Feb 2016 Disease Nemaline myopathy 4 C1836447 609285 16 Feb 2016 Disease Nemaline myopathy 4, autosomal dominant CN260049 19 Jun 2019 Disease Nemaline myopathy 5 NCBI curation C1854380 605355 16 Feb 2016 Disease Nemaline myopathy 5, Amish type CN260050 19 Jun 2019 Disease Nemaline myopathy 6 C1836472 609273 16 Feb 2016 Disease Nemaline myopathy 6, autosomal dominant CN260051 19 Jun 2019 Disease Nemaline myopathy 7 NCBI curation C1853154 610687 16 Feb 2016 Disease Nemaline myopathy 7, autosomal recessive CN260052 19 Jun 2019 Disease Nemaline myopathy 8 NCBI curation C3809209 615348 16 Feb 2016 Disease Nemaline myopathy 8, autosomal recessive CN260053 19 Jun 2019 Disease Nemaline myopathy 9 NCBI curation C3810384 615731 16 Feb 2016 Disease Nemaline Myopathy, Dominant CN239448 02 Dec 2016 Disease Nemaline Myopathy, Recessive CN239479 02 Dec 2016 Disease Nematoda infectious disease MONDO C0027583 MONDO:0005871 04 Jun 2020 Infectious disease NEMO mutation with immunodeficiency 16 Feb 2016 Disease Neo vascularization CN232384 16 Feb 2016 Finding neomycin response - Toxicity/ADR PharmGKB 1444608367PA450608 06 Jul 2018 Pharmacological response neonatal abstinence syndrome C0027609 18 Jan 2019 Finding Neonatal adrenoleucodystrophy C3550234 202370 16 Feb 2016 Disease Neonatal alloimmune thrombocytopenia Human Phenotype Ontology C3853779 HP:0004809 16 Feb 2016 Finding Neonatal anemia MONDO C0002891 MONDO:0001240 17 Apr 2020 Disease Neonatal antiphospholipid syndrome MONDO C4751518 MONDO:0018357 17 Apr 2020 Disease Neonatal asphyxia Human Phenotype Ontology CN217169 HP:0012768 16 Feb 2016 Finding Neonatal aspiration syndrome MONDO C0349468 MONDO:0024263 17 Apr 2020 Disease Neonatal autoimmune hemolytic anemia MONDO C4751517 MONDO:0018358 17 Apr 2020 Disease Neonatal brainstem dysfunction MONDO C4749374 MONDO:0015315 17 Apr 2020 Disease Neonatal breathing dysregulation Human Phenotype Ontology C3806216 HP:0002790 16 Feb 2016 Finding Neonatal candidiasis MONDO C0276682 MONDO:0004824 04 Jun 2020 Infectious disease Neonatal cholestatic liver disease Human Phenotype Ontology C1859162 HP:0006566 16 Feb 2016 Finding Neonatal dacryocystitis MONDO C0270178 MONDO:0023023 17 Apr 2020 Disease Neonatal death Human Phenotype Ontology C0410916 HP:0003811 16 Feb 2016 Finding Neonatal dermatomyositis MONDO C4751516 MONDO:0018359 17 Apr 2020 Disease Neonatal diabetes mellitus NCBI curation C0158981 16 Feb 2016 Disease Neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts MONDO MONDO:0100072 17 Apr 2020 Disease Neonatal epilepsy syndrome MONDO CN206974 MONDO:0020070 17 Apr 2020 Disease Neonatal epileptic encephalopathy 18 Mar 2020 Finding Neonatal epileptic encephalopathy due to glutaminase deficiency MONDO CN262960 MONDO:0034147 17 Apr 2020 Disease Neonatal epiphyseal stippling Human Phenotype Ontology C4021623 HP:0005756 16 Feb 2016 Finding Neonatal glycine encephalopathy MONDO CN203016 MONDO:0017353 17 Apr 2020 Disease Neonatal hemochromatosis C0268059 231100 16 Feb 2016 Disease Neonatal herpes 16 Feb 2016 Disease Neonatal hyperbilirubinemia Human Phenotype Ontology C0857007 HP:0003265 16 Feb 2016 Finding Neonatal hypoglycemia Human Phenotype Ontology C0158986 HP:0001998 16 Feb 2016 Finding Neonatal hypoproteinemia Human Phenotype Ontology C4024691 HP:0008360 16 Feb 2016 Finding Neonatal hypotonia Human Phenotype Ontology C2267233 HP:0001319 16 Feb 2016 Finding Neonatal ichthyosis-sclerosing cholangitis syndrome MONDO C1843355 MONDO:0011874 607626 17 Apr 2020 Disease Neonatal infective mastitis MONDO C0158948 MONDO:0001736 17 Apr 2020 Disease Neonatal inflammatory skin and bowel disease OMIM phenotypic series C4751120 PS614328 16 Feb 2016 Disease Neonatal inflammatory skin and bowel disease Orphanet C4751120 ORPHA294023 16 Feb 2016 Disease Neonatal inspiratory stridor Human Phenotype Ontology C4025281 HP:0004875 16 Feb 2016 Finding Neonatal insulin-dependent diabetes mellitus Human Phenotype Ontology C3278636 HP:0000857 16 Feb 2016 Finding Neonatal intestinal obstruction Human Phenotype Ontology C0859974 HP:0005234 16 Feb 2016 Finding Neonatal intrahepatic cholestasis caused by citrin deficiency NCBI curation C1853942 605814 16 Feb 2016 Disease Neonatal iodine exposure MONDO C4751432 MONDO:0016554 17 Apr 2020 Disease Neonatal jaundice requiring phototherapy 23 Jan 2020 Finding neonatal lactic acidosis CN231227 16 Feb 2016 Finding Neonatal leukemia MONDO C0235813 MONDO:0004354 17 Apr 2020 Disease Neonatal lupus erythematosus MONDO C0409979 MONDO:0018360 17 Apr 2020 Disease Neonatal meningitis 16 Feb 2016 Disease Neonatal myasthenia gravis MONDO C0158982 MONDO:0006866 17 Apr 2020 Disease Neonatal onset NCBI curation C1855106 27 Feb 2018 Finding Neonatal osteosclerotic dysplasia MONDO C1300205 MONDO:0019702 17 Apr 2020 Disease Neonatal ovarian cyst C2931186 16 Feb 2016 Disease Neonatal period electroclinical syndrome MONDO MONDO:0000412 17 Apr 2020 Disease Neonatal polycythemia 23 Jan 2020 Finding Neonatal pseudo-hydrocephalic progeroid syndrome C0406586 264090 16 Feb 2016 Disease Neonatal respiratory distress Human Phenotype Ontology C4281993 HP:0002643 16 Feb 2016 Finding Neonatal respiratory failure MONDO C0521648 MONDO:0001207 17 Apr 2020 Disease Neonatal scleroderma MONDO C4509425 MONDO:0018361 17 Apr 2020 Disease neonatal seizures 12 Sep 2018 Disease Neonatal sepsis Human Phenotype Ontology C0456103 HP:0040187 16 Feb 2016 Finding Neonatal severe hyperparathyroidism NCBI curation C1832615 239200 24 Mar 2016 Disease Neonatal short-limb short stature Human Phenotype Ontology C1850171 HP:0008921 16 Feb 2016 Finding Neonatal short-trunk short stature Human Phenotype Ontology C3149908 HP:0008857 16 Feb 2016 Finding Neonatal stroke C1299567 16 Feb 2016 Disease Neonatal systemic lupus erythematosus 16 Feb 2016 Disease Neonatal tachycardia, one episode 23 Jan 2020 Finding Neonatal thrombocytopenia MONDO C0221028 MONDO:0024277 17 Apr 2020 Disease Neonatal thyrotoxicosis MONDO C0158983 MONDO:0001555 17 Apr 2020 Disease Neonatal unconjugated hyperbilirubinemia Human Phenotype Ontology C0559506 HP:0008176 16 Feb 2016 Finding Neonatal urinary tract infectious disease MONDO C0235815 MONDO:0001791 04 Jun 2020 Infectious disease Neonatal wrinkled skin of hands and feet Human Phenotype Ontology C4024884 HP:0007414 16 Feb 2016 Finding Neonatal/infantile epilepsy syndrome MONDO MONDO:0100022 17 Apr 2020 Disease Neonate with signs and symptoms of Cotello Syndrome CN235271 19 Feb 2016 Finding Neoplasia of the nasopharynx Human Phenotype Ontology C4022006 HP:0100630 16 Feb 2016 Finding Neoplasia of the pleura Human Phenotype Ontology C4022033 HP:0100527 16 Feb 2016 Finding Neoplasm Human Phenotype Ontology C0027651 HP:0002664 16 Feb 2016 Disease Neoplasm (disease) MONDO CN236628 MONDO:0005070 17 Apr 2020 Disease Neoplasm by anatomical site Human Phenotype Ontology C4023185 HP:0011793 16 Feb 2016 Finding Neoplasm by histology Human Phenotype Ontology C4023186 HP:0011792 16 Feb 2016 Finding Neoplasm of aortic body MONDO C0334417 MONDO:0021389 17 Apr 2020 Disease Neoplasm of brain NCBI curation C0006118 16 Feb 2016 Disease Neoplasm of cerebral hemisphere MONDO MONDO:0021374 17 Apr 2020 Disease Neoplasm of chest wall MONDO C1290309 MONDO:0021388 17 Apr 2020 Disease Neoplasm of endocardium MONDO C1290401 MONDO:0021378 17 Apr 2020 Disease Neoplasm of epicardium MONDO C1290403 MONDO:0021379 17 Apr 2020 Disease Neoplasm of fallopian tube NCBI curation C0015558 16 Feb 2016 Disease Neoplasm of fatty tissue Human Phenotype Ontology C4021901 HP:0200013 16 Feb 2016 Finding Neoplasm of femur MONDO C0015807 MONDO:0021579 17 Apr 2020 Disease Neoplasm of floor of mouth MONDO C0345538 MONDO:0021383 17 Apr 2020 Disease Neoplasm of head and neck Human Phenotype Ontology C0278996 HP:0012288 16 Feb 2016 Disease Neoplasm of hypopharynx MONDO MONDO:0021358 17 Apr 2020 Disease Neoplasm of immature B and T cells MONDO MONDO:0005168 17 Apr 2020 Disease Neoplasm of jaw MONDO MONDO:0021580 17 Apr 2020 Disease Neoplasm of lung NCBI curation C0024121 16 Feb 2016 Disease Neoplasm of major salivary gland MONDO C0345599 MONDO:0021368 17 Apr 2020 Disease Neoplasm of mature B-cells MONDO C1334633 MONDO:0004949 17 Apr 2020 Disease Neoplasm of mature T-cells or NK-cells MONDO C1334640 MONDO:0005169 17 Apr 2020 Disease Neoplasm of mediastinum MONDO MONDO:0021386 17 Apr 2020 Disease Neoplasm of middle ear MONDO MONDO:0021366 17 Apr 2020 Disease Neoplasm of minor salivary gland MONDO C0345613 MONDO:0021370 17 Apr 2020 Disease Neoplasm of myocardium MONDO C1290402 MONDO:0021380 17 Apr 2020 Disease Neoplasm of neck MONDO C0027533 MONDO:0021351 17 Apr 2020 Disease Neoplasm of oropharynx MONDO C0029295 MONDO:0021364 17 Apr 2020 Disease Neoplasm of ovary NCBI curation C0919267 167000 16 Feb 2016 Disease Neoplasm of parietal lobe MONDO C1263888 MONDO:0021373 17 Apr 2020 Disease Neoplasm of pericardium MONDO MONDO:0021381 17 Apr 2020 Disease Neoplasm of retromolar area MONDO C0345590 MONDO:0037744 17 Apr 2020 Disease Neoplasm of stomach NCBI curation C0038356 613659 16 Feb 2016 Disease Neoplasm of striated muscle Human Phenotype Ontology C4021396 HP:0009728 16 Feb 2016 Finding Neoplasm of temporal lobe MONDO C1263887 MONDO:0021372 17 Apr 2020 Disease Neoplasm of testis MONDO MONDO:0021348 17 Apr 2020 Disease Neoplasm of the adrenal cortex Human Phenotype Ontology C0001618 HP:0100641 16 Feb 2016 Finding Neoplasm of the adrenal gland Human Phenotype Ontology C0001624 HP:0100631 16 Feb 2016 Finding Neoplasm of the adrenal medulla Human Phenotype Ontology C0596046 HP:0100642 16 Feb 2016 Finding Neoplasm of the anterior pituitary Human Phenotype Ontology C4023205 HP:0011750 16 Feb 2016 Finding Neoplasm of the breast Human Phenotype Ontology C1458155 HP:0100013 18 Jul 2017 Disease Neoplasm of the central nervous system Human Phenotype Ontology C0085136 HP:0100006 16 Feb 2016 Finding Neoplasm of the ceruminal gland Human Phenotype Ontology C0334352 HP:0040097 16 Feb 2016 Finding Neoplasm of the ear Human Phenotype Ontology C0013449 HP:0012780 16 Feb 2016 Finding Neoplasm of the endocrine system Human Phenotype Ontology C0014132 HP:0100568 16 Feb 2016 Finding Neoplasm of the eye Human Phenotype Ontology C0015414 HP:0100012 16 Feb 2016 Finding Neoplasm of the gallbladder Human Phenotype Ontology C0016978 HP:0100575 16 Feb 2016 Finding Neoplasm of the gastrointestinal tract Human Phenotype Ontology C0017185 HP:0007378 16 Feb 2016 Finding Neoplasm of the genitourinary tract Human Phenotype Ontology C0042065 HP:0007379 04 Apr 2018 Disease Neoplasm of the heart Human Phenotype Ontology C0018809 HP:0100544 16 Feb 2016 Finding Neoplasm of the inner ear Human Phenotype Ontology C1512779 HP:0040096 16 Feb 2016 Finding Neoplasm of the large intestine Human Phenotype Ontology C0009404 HP:0100834 16 Feb 2016 Disease Neoplasm of the larynx Human Phenotype Ontology C0023055 HP:0100605 16 Feb 2016 Finding Neoplasm of the lip Human Phenotype Ontology C0023761 HP:0100604 16 Feb 2016 Finding Neoplasm of the liver Human Phenotype Ontology C0023903 HP:0002896 16 Feb 2016 Finding Neoplasm of the male external genitalia Human Phenotype Ontology C4020950 HP:0100848 16 Feb 2016 Finding Neoplasm of the middle ear Human Phenotype Ontology C0345617 HP:0100799 16 Feb 2016 Finding Neoplasm of the nail Human Phenotype Ontology C4021961 HP:0100826 16 Feb 2016 Finding Neoplasm of the nervous system Human Phenotype Ontology C0027766 HP:0004375 16 Feb 2016 Finding Neoplasm of the nose Human Phenotype Ontology C0028433 HP:0012720 16 Feb 2016 Finding Neoplasm of the oral cavity Human Phenotype Ontology C0149744 HP:0100649 16 Feb 2016 Finding Neoplasm of the outer ear Human Phenotype Ontology C4022443 HP:0040095 16 Feb 2016 Finding Neoplasm of the pancreas Human Phenotype Ontology C1842408 HP:0002894 16 Feb 2016 Finding Neoplasm of the parathyroid gland Human Phenotype Ontology C0030521 HP:0100733 04 Apr 2018 Disease Neoplasm of the penis Human Phenotype Ontology C0030849 HP:0100850 16 Feb 2016 Finding Neoplasm of the peripheral nervous system Human Phenotype Ontology C0031118 HP:0100007 16 Feb 2016 Finding Neoplasm of the pharynx Human Phenotype Ontology C0031347 HP:0100638 16 Feb 2016 Finding Neoplasm of the pituitary gland Human Phenotype Ontology C0032019 HP:0040277 02 Apr 2017 Finding Neoplasm of the posterior pituitary Human Phenotype Ontology C1334957 HP:0011752 16 Feb 2016 Finding Neoplasm of the rectum Human Phenotype Ontology C0034885 HP:0100743 04 Jan 2019 Disease Neoplasm of the respiratory system Human Phenotype Ontology C0035244 HP:0100606 16 Feb 2016 Finding Neoplasm of the scrotum Human Phenotype Ontology C0341790 HP:0100849 16 Feb 2016 Finding Neoplasm of the skeletal system Human Phenotype Ontology C2732838 HP:0010622 16 Feb 2016 Finding Neoplasm of the skin Human Phenotype Ontology C0037286 HP:0008069 16 Feb 2016 Finding Neoplasm of the small intestine Human Phenotype Ontology C0345832 HP:0100833 16 Feb 2016 Finding Neoplasm of the thymus Human Phenotype Ontology C3714644 HP:0100521 16 Feb 2016 Finding Neoplasm of the thyroid gland Human Phenotype Ontology C0040136 HP:0100031 05 Aug 2016 Disease Neoplasm of the tongue Human Phenotype Ontology C0040411 HP:0100648 16 Feb 2016 Finding Neoplasm of the trachea Human Phenotype Ontology C0040582 HP:0100551 16 Feb 2016 Finding Neoplasm of the tracheobronchial system Human Phenotype Ontology C4022026 HP:0100552 16 Feb 2016 Finding Neoplasm of the ureter Human Phenotype Ontology C0041955 HP:0100516 16 Feb 2016 Finding Neoplasm of the urethra Human Phenotype Ontology C0041971 HP:0100517 16 Feb 2016 Finding Neoplasm of thorax MONDO C0039981 MONDO:0021350 17 Apr 2020 Disease Neoplasm of uterine cervix NCBI curation C0007873 16 Feb 2016 Disease Neoplasm of uterus NCBI curation C0042138 16 Feb 2016 Disease Neoplasm with perivascular epithelioid cell differentiation MONDO C1300127 MONDO:0006359 17 Apr 2020 Disease Neoplasms;Osteosarcoma;Urinary Bladder Neoplasms PharmGKB 17 Feb 2017 Disease Neoplasms;Ovarian Neoplasms PharmGKB 17 Feb 2017 Disease Neoplastic disease or syndrome MONDO MONDO:0023370 17 Apr 2020 Disease Neoplastic medium-sized B-lymphocyte with basophilic cytoplasm MONDO MONDO:0006315 17 Apr 2020 Disease Neoplastic polyp MONDO C1334941 MONDO:0021075 17 Apr 2020 Disease Neoplastic syndrome MONDO C1882062 MONDO:0021058 17 Apr 2020 Disease Neorickettsia infectious disease MONDO C0276121 MONDO:0024416 04 Jun 2020 Infectious disease Neovascular glaucoma MONDO C0017609 MONDO:0019783 17 Apr 2020 Disease Neovascularization C0027686 16 Feb 2016 Finding Nephritis Human Phenotype Ontology C0027697 HP:0000123 16 Feb 2016 Finding nephritis or neuropathy with pathological lesion 14 Mar 2019 Finding nephritis/nephrosis/renal sclerosis 14 Mar 2019 Finding Nephroblastoma Human Phenotype Ontology C0027708 HP:0002667 16 Feb 2016 Disease Nephroblastomatosis Human Phenotype Ontology C2675558 HP:0008643 16 Feb 2016 Finding Nephrocalcinosis Human Phenotype Ontology C0027709 HP:0000121 16 Feb 2016 Disease Nephrogenic adenofibroma MONDO C1266141 MONDO:0002396 17 Apr 2020 Disease Nephrogenic adenoma MONDO C0334039 MONDO:0004191 17 Apr 2020 Disease Nephrogenic adenoma of the urethra MONDO C1336889 MONDO:0004464 17 Apr 2020 Disease Nephrogenic adenoma of urinary bladder MONDO C1336892 MONDO:0004190 17 Apr 2020 Disease Nephrogenic diabetes insipidus Human Phenotype Ontology C0162283 HP:0009806 16 Feb 2016 Disease Nephrogenic diabetes insipidus, autosomal NCBI curation C1563706 125800 16 Feb 2016 Disease Nephrogenic diabetes insipidus, X-linked NCBI curation C1563705 304800 16 Feb 2016 Disease Nephrogenic rest Human Phenotype Ontology C1320468 HP:0100880 16 Feb 2016 Finding Nephrogenic syndrome of inappropriate antidiuresis NCBI curation C1845202 300539 16 Feb 2016 Disease Nephrogenic Systemic Fibrosis C3888044 16 Feb 2016 Disease Nephrolithiasis Human Phenotype Ontology C0392525 HP:0000787 16 Feb 2016 Finding Nephrolithiasis diarrhea syndrome CN178068 16 Feb 2016 Disease Nephrolithiasis, X-linked recessive NCBI curation C4016445 26 May 2016 Disease Nephrolithiasis/nephrocalcinosis CN580796 03 Nov 2017 Disease Nephrolithiasis/osteoporosis, hypophosphatemic OMIM phenotypic series CN280257 PS612286 22 Apr 2020 Disease Nephrolithiasis/osteoporosis, hypophosphatemic MONDO CN280257 MONDO:0000079 22 Apr 2020 Disease Nephrolithiasis/osteoporosis, hypophosphatemic, 1 NCBI curation C2676786 612286 16 Feb 2016 Disease Nephrolithiasis/osteoporosis, hypophosphatemic, 2 NCBI curation C2676782 612287 16 Feb 2016 Disease Nephronophthisis OMIM phenotypic series C0687120 PS256100 16 Feb 2016 Disease Nephronophthisis Human Phenotype Ontology C0687120 HP:0000090 16 Feb 2016 Disease Nephronophthisis 1 NCBI curation C4551979 256100 16 Feb 2016 Disease Nephronophthisis 11 NCBI curation C3150796 613550 16 Feb 2016 Disease Nephronophthisis 12 NCBI curation C3151186 613820 16 Feb 2016 Disease Nephronophthisis 13 NCBI curation C3280612 614377 16 Feb 2016 Disease Nephronophthisis 14 NCBI curation C3539071 614844 16 Feb 2016 Disease Nephronophthisis 15 NCBI curation C3541853 614845 16 Feb 2016 Disease Nephronophthisis 16 NCBI curation C3809320 615382 16 Feb 2016 Disease Nephronophthisis 17 CN230110 16 Feb 2016 Disease Nephronophthisis 18 NCBI curation C3890591 615862 16 Feb 2016 Disease Nephronophthisis 19 NCBI curation C4015542 616217 16 Feb 2016 Disease Nephronophthisis 2, infantile CN260056 19 Jun 2019 Disease Nephronophthisis 20 NCBI curation C4310640 617271 02 Feb 2018 Disease Nephronophthisis 21 CN230116 16 Feb 2016 Disease Nephronophthisis 22 CN230117 16 Feb 2016 Disease Nephronophthisis 23 CN230118 16 Feb 2016 Disease Nephronophthisis 24 CN230113 16 Feb 2016 Disease Nephronophthisis 25 CN230114 16 Feb 2016 Disease Nephronophthisis 26 CN230111 16 Feb 2016 Disease Nephronophthisis 27 CN230112 16 Feb 2016 Disease Nephronophthisis 3 MONDO C1858392 MONDO:0011456 604387 21 May 2020 Disease Nephronophthisis 4 NCBI curation C1847013 606966 16 Feb 2016 Disease Nephronophthisis 7 NCBI curation C1969092 611498 16 Feb 2016 Disease Nephronophthisis 8 NCBI curation CN119610 16 Feb 2016 Disease Nephronophthisis 9 NCBI curation C3151188 613824 16 Feb 2016 Disease Nephronophthisis familial adult spastic quadriparesis 16 Feb 2016 Disease Nephronophthisis type 6 NCBI curation C2959563 16 Feb 2016 Disease Nephronophthisis-Like Nephropathy C3280617 02 Dec 2016 Disease Nephronophthisis-like nephropathy 1 NCBI curation C3150419 613159 16 Feb 2016 Disease Nephropathic cystinosis NCBI curation C2931187 219800 04 Sep 2016 Disease Nephropathy Human Phenotype Ontology C1408258 HP:0000112 16 Feb 2016 Finding Nephropathy - deafness - hyperparathyroidism syndrome MONDO C1850553 MONDO:0009729 256120 17 Apr 2020 Disease Nephropathy familial with hyperuricemia 16 Feb 2016 Disease Nephropathy secondary to a storage or other metabolic disease MONDO CN206659 MONDO:0019743 17 Apr 2020 Disease Nephropathy with pretibial epidermolysis bullosa and deafness NCBI curation C1836823 609057 16 Feb 2016 Disease Nephropathy, chronic tubulointerstitial NCBI curation C1838875 551200 16 Feb 2016 Disease Nephropathy, progressive tubulointerstitial, with cholestatic liver disease NCBI curation C1865831 602114 16 Feb 2016 Disease Nephropathy, progressive, with deafness NCBI curation C1836119 609469 16 Feb 2016 Disease Nephropathy-associated ciliopathy MONDO CN261046 MONDO:0022409 17 Apr 2020 Disease Nephroptosis Human Phenotype Ontology C1384594 HP:0011126 16 Feb 2016 Finding Nephrosclerosis Human Phenotype Ontology C0027719 HP:0009741 16 Feb 2016 Disease Nephrosis-deafness-urinary tract-digital malformations syndrome MONDO C1850552 MONDO:0009731 256200 17 Apr 2020 Disease Nephrotic range proteinuria Human Phenotype Ontology C0445118 HP:0012593 16 Feb 2016 Finding Nephrotic syndrome Human Phenotype Ontology C0027726 HP:0000100 16 Feb 2016 Disease Nephrotic syndrome ocular anomalies C2931188 16 Feb 2016 Disease Nephrotic syndrome of childhood - steroid sensitive MONDO C0403396 MONDO:0044781 17 Apr 2020 Disease Nephrotic syndrome type 14 NCBI curation C4540559 617575 24 Jul 2018 Disease Nephrotic syndrome type 15 NCBI curation C4539896 617609 24 Jul 2018 Disease Nephrotic syndrome type 16 NCBI curation C4540453 617783 24 Jul 2018 Disease Nephrotic syndrome, idiopathic, steroid-resistant CN034406 600995 16 Feb 2016 Disease Nephrotic syndrome, type 10 NCBI curation C4014507 615861 16 Feb 2016 Disease Nephrotic syndrome, type 11 NCBI curation C4225228 616730 16 Feb 2016 Disease Nephrotic syndrome, type 12 NCBI curation C4225166 616892 26 May 2016 Disease Nephrotic syndrome, type 13 NCBI curation C4225165 616893 24 Aug 2016 Disease NEPHROTIC SYNDROME, TYPE 17 OMIM C4748545 618176 618176 14 Nov 2018 Disease NEPHROTIC SYNDROME, TYPE 18 OMIM C4748549 618177 618177 14 Nov 2018 Disease NEPHROTIC SYNDROME, TYPE 19 OMIM C4748552 618178 618178 14 Nov 2018 Disease Nephrotic syndrome, type 2, susceptibility to NCBI curation 16 Feb 2016 Disease NEPHROTIC SYNDROME, TYPE 20 OMIM C5193011 301028 301028 13 Jul 2019 Disease NEPHROTIC SYNDROME, TYPE 21 OMIM C5231498 618594 618594 27 Sep 2019 Disease Nephrotic syndrome, type 3 NCBI curation C1853124 610725 16 Feb 2016 Disease Nephrotic syndrome, type 4 MONDO C3151568 MONDO:0009733 256370 09 May 2020 Disease Nephrotic syndrome, type 5, with or without ocular abnormalities NCBI curation C3280113 614199 16 Feb 2016 Disease Nephrotic syndrome, type 6 NCBI curation C3280100 614196 16 Feb 2016 Disease Nephrotic syndrome, type 7 NCBI curation C3554330 615008 16 Feb 2016 Disease Nephrotic syndrome, type 8 NCBI curation C3808953 615244 16 Feb 2016 Disease Nephrotic syndrome, type 9 NCBI curation C3809965 615573 16 Feb 2016 Disease Nerve compression syndrome MONDO MONDO:0003615 17 Apr 2020 Disease Nerve growth factor, alpha subunit NCBI curation C3887786 162020 16 Feb 2016 Disease Nerve plexus disease MONDO C1335437 MONDO:0024432 17 Apr 2020 Disease Nerve plexus neoplasm MONDO C1334945 MONDO:0003100 17 Apr 2020 Disease Nerve root neoplasm MONDO C1334946 MONDO:0003103 17 Apr 2020 Disease Nerve sheath neoplasm C0206727 16 Feb 2016 Disease nervous system anomaly 05 Sep 2019 Finding Nervous system anomaly with eye involvement MONDO MONDO:0020262 17 Apr 2020 Disease Nervous system benign neoplasm MONDO C0497550 MONDO:0000648 17 Apr 2020 Disease Nervous system disorder MONDO C0027765 MONDO:0005071 17 Apr 2020 Disease Nervous system injury MONDO MONDO:0044745 17 Apr 2020 Disease Nervous system neoplasm MONDO MONDO:0021248 17 Apr 2020 Disease Nervous tissue neoplasm Human Phenotype Ontology C0027665 HP:0030060 16 Feb 2016 Finding Nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor 16 Feb 2016 Disease Nested variant infiltrating bladder urothelial carcinoma MONDO C1512741 MONDO:0004417 17 Apr 2020 Disease Nestor-Guillermo progeria syndrome NCBI curation C3151446 614008 16 Feb 2016 Disease Netherton syndrome C0265962 256500 16 Feb 2016 Disease Neu-Laxova syndrome OMIM phenotypic series C0265218 PS256520 16 Feb 2016 Disease Neu-Laxova syndrome 1 NCBI curation C4551478 256520 16 Feb 2016 Disease Neu-laxova syndrome 2 NCBI curation C4015019 616038 16 Feb 2016 Disease Neuhauser anomaly MONDO C4707820 MONDO:0020416 17 Apr 2020 Disease Neuhauser Daly Magnelli syndrome 16 Feb 2016 Disease Neuhauser Eichner Opitz syndrome C1851708 130950 16 Feb 2016 Disease Neural crest tumor C2931189 16 Feb 2016 Disease Neural glioblastoma MONDO C3828832 MONDO:0000460 17 Apr 2020 Disease Neural tube closure defect MONDO CN202418 MONDO:0017059 17 Apr 2020 Disease Neural tube defect Human Phenotype Ontology C3891448 HP:0045005 182940 16 Feb 2016 Disease Neural tube defects, folate-sensitive NCBI curation C1866558 601634 16 Feb 2016 Disease Neural tube defects, folate-sensitive, susceptibility to NCBI curation 16 Feb 2016 Disease Neural tube defects, susceptibility to NCBI curation 16 Feb 2016 Disease Neural tube defects, X-linked MONDO C1845026 MONDO:0010525 301410 22 Apr 2020 Disease Neuralgia MONDO C0027796 MONDO:0021667 17 Apr 2020 Disease Neuralgic amyotrophy MONDO C1510479 MONDO:0017362 17 Apr 2020 Disease Neurally mediated hypotension MONDO MONDO:0005471 17 Apr 2020 Disease Neurenteric cyst Human Phenotype Ontology C0027806 HP:0030725 02 Apr 2017 Finding Neurilemmoma of the pleura MONDO C1335435 MONDO:0003926 17 Apr 2020 Disease Neuritis Human Phenotype Ontology C0027813 HP:0031002 04 Apr 2018 Finding Neuritis of upper limb MONDO MONDO:0003607 17 Apr 2020 Disease neuro-ectodermal phenotype 04 Dec 2019 Disease Neuro-ophthalmological disease MONDO CN199459 MONDO:0015368 17 Apr 2020 Disease Neuroaspergillosis MONDO C0752342 MONDO:0005873 04 Jun 2020 Infectious disease Neuroaxonal dystrophy MONDO C0338473 MONDO:0002283 17 Apr 2020 Disease Neuroaxonal dystrophy renal tubular acidosis C2931479 16 Feb 2016 Disease Neuroblastic tumors Human Phenotype Ontology C1334953 HP:0004376 16 Feb 2016 Finding Neuroblastoma Human Phenotype Ontology C0027819 HP:0003006 256700 16 Feb 2016 Disease Neuroblastoma 1 NCBI curation C2749485 16 Feb 2016 Disease Neuroblastoma 2 NCBI curation C2751682 613013 16 Feb 2016 Disease Neuroblastoma 3 NCBI curation C2751681 613014 16 Feb 2016 Disease Neuroblastoma 4 NCBI curation C2751680 613015 16 Feb 2016 Disease Neuroblastoma 5 NCBI curation C2751679 613016 16 Feb 2016 Disease Neuroblastoma 6 NCBI curation C2751678 613017 16 Feb 2016 Disease Neuroblastoma Susceptibility CN239480 02 Dec 2016 Disease Neuroblastoma with Hirschsprung disease NCBI curation C2751683 22 Apr 2020 Disease NEUROBLASTOMA, SUSCEPTIBILITY TO CN258294 20 Apr 2019 Disease Neuroblastoma, susceptibility to, 7 NCBI curation C4225207 616792 16 Feb 2016 Disease Neurocristopathy MONDO MONDO:0021635 17 Apr 2020 Disease Neurocutaneous melanocytosis MONDO C0544862 MONDO:0009578 249400 17 Apr 2020 Disease Neurocutaneous syndrome MONDO C0265316 MONDO:0042983 17 Apr 2020 Disease Neurocutaneous syndrome with epilepsy MONDO CN200062 MONDO:0015651 17 Apr 2020 Disease Neurocytoma Human Phenotype Ontology C1622510 HP:0030064 16 Feb 2016 Finding Neurodegeneration Human Phenotype Ontology C0027746 HP:0002180 16 Feb 2016 Finding Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency NCBI curation C4283745 27 Apr 2018 Disease Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset NCBI curation C4310693 617145 20 Jun 2017 Disease Neurodegeneration with brain iron accumulation OMIM phenotypic series CN043643 PS234200 16 Feb 2016 Disease Neurodegeneration with brain iron accumulation 1 CN260055 19 Jun 2019 Disease Neurodegeneration with brain iron accumulation 1, atypical NCBI curation C2751506 16 Feb 2016 Disease Neurodegeneration with brain iron accumulation 2b NCBI curation C1857747 610217 16 Feb 2016 Disease Neurodegeneration with brain iron accumulation 4 NCBI curation C3280371 614298 29 Oct 2017 Disease Neurodegeneration with brain iron accumulation 5 NCBI curation C3550973 300894 16 Feb 2016 Disease Neurodegeneration with brain iron accumulation 6 NCBI curation C3810230 615643 16 Feb 2016 Disease NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 OMIM C4693583 617916 617916 29 Mar 2018 Disease NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 OMIM C4693587 617917 617917 29 Mar 2018 Disease NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES OMIM C4748527 618170 618170 10 Nov 2018 Disease NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE OMIM CN280881 618868 618868 06 May 2020 Disease NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY OMIM C4748934 618276 618276 13 Jan 2019 Disease NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA OMIM C5193104 618451 618451 31 May 2019 Disease NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOSIS AND MICROCYTIC ANEMIA 01 Jun 2019 Disease Neurodegenerative disease with chorea MONDO CN203538 MONDO:0017646 17 Apr 2020 Disease Neurodegenerative disease with dementia MONDO CN207020 MONDO:0020136 17 Apr 2020 Disease neurodegenerative disorder 05 Sep 2019 Finding Neurodegenerative illness progressing to crippling dystonia and death with relentless cerebral atrophy CN228274 16 Feb 2016 Finding Neurodegeration CN228311 16 Feb 2016 Finding Neurodermatitis MONDO C0027822 MONDO:0006585 17 Apr 2020 Disease Neurodevelopmental abnormality Human Phenotype Ontology C4022737 HP:0012759 16 Feb 2016 Finding Neurodevelopmental and congenital anomalies 29 Aug 2019 Disease Neurodevelopmental delay Human Phenotype Ontology C4022738 HP:0012758 16 Feb 2016 Finding Neurodevelopmental Disability 15 Feb 2019 Disease Neurodevelopmental disorder C1535926 08 Sep 2017 Disease NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES OMIM C5193048 618354 618354 15 Mar 2019 Disease NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY OMIM CN280970 618890 618890 30 May 2020 Disease NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES OMIM C5231469 618707 618707 21 Dec 2019 Disease NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY OMIM C5231413 618569 618569 11 Sep 2019 Disease NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER OMIM C4540498 617807 617807 17 Dec 2017 Disease NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA OMIM C5231471 618718 618718 25 Dec 2019 Disease NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES OMIM C5231481 618731 618731 11 Jan 2020 Disease Neurodevelopmental disorder with brain malformations and multiple congenital anomalies 27 Aug 2019 Disease NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES OMIM C5231414 618571 618571 15 Sep 2019 Disease NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION OMIM C5193049 618356 618356 16 Mar 2019 Disease NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES OMIM C4748032 618056 618056 04 Aug 2018 Disease NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY OMIM C5231415 618572 618572 15 Sep 2019 Disease NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES OMIM C5193134 618505 618505 21 Jul 2019 Disease NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES OMIM C4540327 617755 617755 09 Nov 2017 Disease NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES OMIM C5231448 618659 618659 24 Nov 2019 Disease Neurodevelopmental disorder with epilepsy 29 Jan 2020 Disease NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM OMIM C4748137 618090 618090 19 Aug 2018 Disease Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination NCBI curation C4479333 617393 20 Jun 2017 Disease NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY OMIM CN263281 618741 618741 20 Feb 2020 Disease NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITHOUT SEIZURES, AUTOSOMAL RECESSIVE 11 Jan 2018 Disease NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS OMIM C5231491 618760 618760 02 Feb 2020 Disease NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES OMIM CN280934 618879 618879 20 May 2020 Disease NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES OMIM C5231423 618603 618603 29 Sep 2019 Disease NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES OMIM CN280872 618862 618862 02 May 2020 Disease NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION OMIM CN263344 618797 618797 05 Mar 2020 Disease Neurodevelopmental disorder with hypotonia, seizures, and absent language NCBI curation C4310643 617268 20 Jun 2017 Disease NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA OMIM C4749014 618292 618292 26 Jan 2019 Disease NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS OMIM C5193088 618425 618425 12 May 2019 Disease Neurodevelopmental disorder with involuntary movements NCBI curation C4479569 617493 20 Jun 2017 Disease NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES OMIM CN283239 618917 618917 27 Jun 2020 Disease Neurodevelopmental disorder with microcephaly and dysmorphic facies MONDO CN272909 MONDO:0032942 618828 28 May 2020 Disease NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES OMIM C5193123 618492 618492 04 Jul 2019 Disease NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES OMIM C5231431 618622 618622 18 Oct 2019 Disease NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES OMIM C4540188 617709 617709 12 Oct 2017 Disease NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES OMIM C4693567 617913 617913 25 Mar 2018 Disease NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY OMIM C5231480 618730 618730 16 Jan 2020 Disease NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY OMIM C4693390 617862 617862 04 Feb 2018 Disease NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION OMIM C5193057 618367 618367 29 Mar 2019 Disease Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies NCBI curation C4479566 617481 20 Jun 2017 Disease NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY OMIM C4540493 617802 617802 10 Dec 2017 Disease Neurodevelopmental disorder with midbrain and hindbrain malformations NCBI curation C4479613 617523 20 Jun 2017 Disease NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES OMIM C4693405 617865 617865 09 Feb 2018 Disease NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES OMIM C5231470 618709 618709 22 Dec 2019 Disease Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart NCBI curation C4310772 616975 20 Jan 2018 Disease NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES OMIM CN280871 618859 618859 02 May 2020 Disease Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant NCBI curation C3280282 614254 09 Mar 2018 Disease NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE OMIM C4693325 617820 617820 11 Jan 2018 Disease NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES OMIM C4693391 617864 617864 09 Feb 2018 Disease Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA MONDO C5193102 MONDO:0032755 618443 27 May 2020 Disease NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS OMIM C4693546 617903 617903 17 Mar 2018 Disease NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES OMIM C4479631 617527 617527 23 Jun 2017 Disease NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES OMIM C4748127 618088 618088 19 Aug 2018 Disease Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies MONDO CN272910 MONDO:0032943 618829 28 May 2020 Disease NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS OMIM C5193128 618497 618497 17 Jul 2019 Disease NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT OMIM C5193119 618480 618480 26 Jun 2019 Disease NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE OMIM C4540496 617804 617804 20 Dec 2017 Disease NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES OMIM C4693816 617977 617977 18 May 2018 Disease NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES OMIM C5231442 618651 618651 07 Nov 2019 Disease NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH OMIM C4748081 618076 618076 08 Aug 2018 Disease NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES OMIM C5231416 618577 618577 15 Sep 2019 Disease NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES OMIM C5231404 618547 618547 23 Aug 2019 Disease NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES OMIM C4540192 617710 617710 12 Oct 2017 Disease Neurodevelopmental disorder, MTOR related CN240381 31 Jan 2017 Disease Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion MONDO CN204512 MONDO:0018131 17 Apr 2020 Disease Neurodevelopmental disorders 18 May 2018 Finding Neurodevelopmental retardation 30 Nov 2018 Finding Neurodevelopmental, jaw, eye, and digital syndrome NCBI curation CN282599 618914 21 Jun 2020 Disease Neuroectodermal neoplasm Human Phenotype Ontology C0206093 HP:0030061 16 Feb 2016 Finding Neuroectodermal-endocrine syndrome MONDO CN266883 MONDO:0017045 22 Apr 2020 Disease Neuroendocrine carcinoma MONDO C0206695 MONDO:0002120 17 Apr 2020 Disease Neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia NCBI curation C1863649 603641 16 Feb 2016 Disease Neuroendocrine carcinoma of the cervix 16 Feb 2016 Disease Neuroendocrine cell hyperplasia of infancy MONDO C3161105 MONDO:0016322 17 Apr 2020 Disease Neuroendocrine disease MONDO MONDO:0100070 17 Apr 2020 Disease Neuroendocrine neoplasm Human Phenotype Ontology C0206754 HP:0100634 16 Feb 2016 Disease Neuroendocrine pancreatic tumor C1337011 06 Dec 2017 Finding Neuroendocrine tumor of pancreas NCBI curation C4305467 24 Aug 2018 Disease Neuroendocrine tumor of rectum, well differentiated, low or intermediate grade MONDO MONDO:0015068 17 Apr 2020 Disease Neuroendocrine tumor of the anal canal MONDO CN197362 MONDO:0015069 17 Apr 2020 Disease Neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor MONDO MONDO:0015067 17 Apr 2020 Disease Neuroendocrine tumor with other location MONDO CN197376 MONDO:0015081 17 Apr 2020 Disease Neuroepithelial neoplasm Human Phenotype Ontology C0206715 HP:0030063 16 Feb 2016 Finding Neuroepithelioma 16 Feb 2016 Disease Neurofaciodigitorenal syndrome C0796088 256690 16 Feb 2016 Disease Neuroferritinopathy C1853578 606159 16 Feb 2016 Disease Neurofibrillary tangles Human Phenotype Ontology C0085400 HP:0002185 16 Feb 2016 Finding Neurofibroma C0027830 16 Feb 2016 Disease Neurofibroma of gallbladder MONDO C1333751 MONDO:0003303 17 Apr 2020 Disease Neurofibroma of spinal cord MONDO C1336047 MONDO:0001789 17 Apr 2020 Disease Neurofibroma of the esophagus MONDO C1333463 MONDO:0004837 17 Apr 2020 Disease Neurofibroma of the heart MONDO C1096349 MONDO:0004752 17 Apr 2020 Disease Neurofibromas Human Phenotype Ontology C0162678 HP:0001067 16 Feb 2016 Finding Neurofibromas, palmar cutaneous NCBI curation 16 Feb 2016 Disease Neurofibromatosis CN252691 16 Feb 2016 Disease Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion MONDO CN204726 MONDO:0018208 17 Apr 2020 Disease Neurofibromatosis type 3A C2931480 16 Feb 2016 Disease Neurofibromatosis type 3B 16 Feb 2016 Disease Neurofibromatosis type 5 16 Feb 2016 Disease Neurofibromatosis type 6 CN035858 16 Feb 2016 Disease Neurofibromatosis, familial spinal NCBI curation C1834235 162210 16 Feb 2016 Disease Neurofibromatosis, type 1 NCBI curation C0027831 162200 16 Feb 2016 Disease Neurofibromatosis, type 2 NCBI curation C0027832 101000 16 Feb 2016 Disease Neurofibromatosis, type III, mixed central and peripheral NCBI curation C1834230 162260 26 May 2016 Disease Neurofibromatosis, type IV, of Riccardi MONDO C0220695 MONDO:0008081 162270 22 Apr 2020 Disease Neurofibromatosis-Noonan syndrome C2931482 601321 16 Feb 2016 Disease Neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome C1834232 162240 16 Feb 2016 Disease Neurofibrosarcoma Human Phenotype Ontology C0206729 HP:0100697 16 Feb 2016 Disease Neurogastrointestinal syndrome, mitochondrial NCBI curation C4016629 16 Feb 2016 Disease Neurogenic arthrogryposis multiplex congenita MONDO C1859721 MONDO:0008823 208100 22 Apr 2020 Disease Neurogenic bladder Human Phenotype Ontology C0005697 HP:0000011 16 Feb 2016 Finding Neurogenic bowel MONDO C0695242 MONDO:0006868 17 Apr 2020 Disease neurogenic damage 13 Feb 2020 Finding Neurogenic hypertension 16 Feb 2016 Disease Neurogenic palpebral tumor MONDO MONDO:0020183 17 Apr 2020 Disease Neurogenic scapuloperoneal syndrome, Kaeser type MONDO C1867005 MONDO:0008407 181400 22 Apr 2020 Disease Neurogenic thoracic outlet syndrome MONDO C0751549 MONDO:0015061 17 Apr 2020 Disease Neurohypophyseal diabetes insipidus Human Phenotype Ontology C0687720 HP:0000863 125700 10 Apr 2018 Disease Neurohypophysis granular cell tumor MONDO C1333873 MONDO:0003256 17 Apr 2020 Disease Neuroleptic malignant syndrome C0027849 16 Feb 2016 Disease Neurologic CN236425 13 May 2016 Finding Neurologic (adult onset) CN232467 16 Feb 2016 Finding Neurologic (child onset) CN232544 16 Feb 2016 Finding Neurologic disease, infantile multisystem, with osseous fragility NCBI curation C1850465 256720 16 Feb 2016 Disease Neurologic Disorders/Seipinopathy 16 Feb 2016 Disease Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset NCBI curation C4015728 616263 16 Feb 2016 Disease neurological and psychiatric features 02 May 2020 Disease Neurological conditions associated with aminoacylase 1 deficiency MONDO C1835922 MONDO:0012368 609924 17 Apr 2020 Disease Neurological deficit C0521654 16 Feb 2016 Disease Neurological disease with abnormal eye movements MONDO MONDO:0020261 17 Apr 2020 Disease neurological disorder 05 Sep 2019 Finding neurological disorders 05 Sep 2019 Finding Neurological impairment 22 Aug 2019 Finding Neurological phenotype CN230745 16 Feb 2016 Finding Neurological regression NCBI curation CN230440 16 Feb 2016 Finding Neurological speech impairment Human Phenotype Ontology C0037822 HP:0002167 16 Feb 2016 Finding neurological symptoms 05 Sep 2019 Finding Neurology CN282566 17 Jun 2020 Pharmacological response Neurolymphomatosis MONDO C4553088 MONDO:0016101 07 Jun 2020 Disease Neuroma Human Phenotype Ontology C0027858 HP:0030430 16 Feb 2016 Finding Neuroma biliary tract 16 Feb 2016 Disease Neurometabolic disease MONDO CN205539 MONDO:0019058 17 Apr 2020 Disease Neurometabolic disorder due to serine deficiency MONDO CN227274 MONDO:0018162 17 Apr 2020 Disease Neuromotor delay 12 Jul 2018 Disease Neuromuscular disease MONDO C0027868 MONDO:0019056 17 Apr 2020 Disease NEUROMUSCULAR DISEASE AND OCULAR OR AUDITORY ANOMALIES WITH OR WITHOUT SEIZURES OMIM C5231483 618733 618733 11 Jan 2020 Disease Neuromuscular disease with dilated cardiomyopathy MONDO CN201165 MONDO:0016334 17 Apr 2020 Disease Neuromuscular disease, congenital, with uniform type 1 fiber NCBI curation C2674259 16 Feb 2016 Disease Neuromuscular dysphagia Human Phenotype Ontology C4025729 HP:0002068 16 Feb 2016 Finding Neuromuscular junction disease MONDO C0751950 MONDO:0020124 17 Apr 2020 Disease Neuromyelitis optica NCBI curation C0027873 16 Feb 2016 Disease Neuromyelitis optica spectrum disorder 16 Feb 2016 Disease Neuromyopathy 03 Apr 2020 Disease Neuronal ceroid lipofuscinoses 16 Feb 2016 Disease Neuronal ceroid lipofuscinosis NCBI curation C0027877 214200 16 Feb 2016 Disease Neuronal ceroid lipofuscinosis 1 MONDO C1850451 MONDO:0009744 256730 22 Apr 2020 Disease Neuronal ceroid lipofuscinosis 10 MONDO C1864669 MONDO:0012414 610127 22 Apr 2020 Disease Neuronal ceroid lipofuscinosis 4B MONDO C1834207 MONDO:0008083 162350 17 Apr 2020 Disease Neuronal ceroid lipofuscinosis 5 MONDO C1850442 MONDO:0009745 256731 22 Apr 2020 Disease Neuronal ceroid lipofuscinosis 6 MONDO C1866282 MONDO:0011144 601780 22 Apr 2020 Disease Neuronal ceroid lipofuscinosis 7 MONDO C1838571 MONDO:0012588 610951 22 Apr 2020 Disease Neuronal ceroid lipofuscinosis 8 MONDO C1838570 MONDO:0010830 600143 22 Apr 2020 Disease Neuronal ceroid lipofuscinosis 9 MONDO C1836841 MONDO:0012188 609055 22 Apr 2020 Disease Neuronal ceroid lipofuscinosis, congenital NCBI curation C1864670 16 Feb 2016 Disease Neuronal ceroid lipofuscinosis, late infantile, variant NCBI curation 16 Feb 2016 Disease Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive CN239251 02 Dec 2016 Disease Neuronal Ceroid-Lipofuscinosis, Recessive CN239323 02 Dec 2016 Disease neuronal dysfunction 13 Feb 2020 Finding Neuronal interstitial dysplasia 16 Feb 2016 Disease Neuronal intestinal dysplasia MONDO C0345244 MONDO:0000858 17 Apr 2020 Disease Neuronal intestinal dysplasia, type b NCBI curation C1832589 601223 26 May 2016 Disease Neuronal intestinal pseudoobstruction MONDO C1855733 MONDO:0009466 243180 17 Apr 2020 Disease Neuronal intranuclear hyaline inclusion disease 16 Feb 2016 Disease Neuronal intranuclear inclusion disease MONDO C1863843 MONDO:0011327 603472 07 May 2020 Disease Neuronal loss in basal ganglia Human Phenotype Ontology C2750913 HP:0200147 16 Feb 2016 Finding Neuronal loss in central nervous system Human Phenotype Ontology C1850496 HP:0002529 16 Feb 2016 Finding Neuronal loss in the cerebral cortex Human Phenotype Ontology C1849485 HP:0007190 16 Feb 2016 Finding Neuronal tumor MONDO CN201974 MONDO:0016726 17 Apr 2020 Disease Neuronal/glioneuronal neoplasm of the central nervous system Human Phenotype Ontology C0474844 HP:0025170 02 Apr 2017 Finding Neuronitis MONDO C0027881 MONDO:0004466 17 Apr 2020 Disease Neuronopathy, distal hereditary motor, type 9 MONDO C4540265 MONDO:0060585 617721 22 Apr 2020 Disease Neuronopathy, distal hereditary motor, type I NCBI curation C1866784 182960 24 Aug 2016 Disease Neuronopathy, distal hereditary motor, type viia NCBI curation C1834703 158580 24 Aug 2016 Disease NEUROOCULOCARDIOGENITOURINARY SYNDROME OMIM C5231443 618652 618652 07 Nov 2019 Disease Neuropathic arthropathy Human Phenotype Ontology C0003892 HP:0002821 16 Feb 2016 Finding neuropathic changes on electromyogram 20 Jun 2019 Finding Neuropathology findings prompted genetic testing. NCBI curation 16 Feb 2016 Finding Neuropathy hereditary sensory and autonomic type 1 C0020071 162400 16 Feb 2016 Disease Neuropathy motor sensory type 2 deafness mental retardation 16 Feb 2016 Disease neuropathy of the distal colon 26 Feb 2020 Finding Neuropathy sensory spastic paraplegia 16 Feb 2016 Disease Neuropathy with hearing impairment MONDO C4509933 MONDO:0015351 17 Apr 2020 Disease Neuropathy, axonal, with vocal cord paresis, autosomal recessive NCBI curation C4016973 16 Feb 2016 Disease Neuropathy, congenital amyelinating NCBI curation CN166715 16 Feb 2016 Disease Neuropathy, congenital hypomyelinating, autosomal dominant NCBI curation 16 Feb 2016 Disease Neuropathy, congenital hypomyelinating, autosomal recessive NCBI curation 16 Feb 2016 Disease Neuropathy, congenital, with arthrogryposis multiplex C1834206 162370 16 Feb 2016 Disease Neuropathy, diabetic, susceptibility to NCBI curation 16 Feb 2016 Disease Neuropathy, hereditary motor and sensory, Russe type NCBI curation C1854449 605285 22 Jan 2018 Disease Neuropathy, hereditary motor and sensory, type 6B MONDO C4225302 MONDO:0014671 616505 22 Apr 2020 Disease NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY OMIM C5193137 618511 618511 21 Jul 2019 Disease Neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers NCBI curation C1861669 214370 16 Feb 2016 Disease Neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive NCBI curation C1850385 256855 16 Feb 2016 Disease Neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance NCBI curation C1834205 162380 16 Feb 2016 Disease Neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia NCBI curation C1837492 608720 16 Feb 2016 Disease Neuropathy, hereditary sensory and autonomic, type I, severe NCBI curation 26 May 2016 Disease Neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux NCBI curation C1842586 608088 26 May 2016 Disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE C4016942 16 Feb 2016 Disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID C4012054 16 Feb 2016 Disease Neuropathy, hereditary sensory and autonomic, type VI NCBI curation C3539003 614653 26 May 2016 Disease Neuropathy, hereditary sensory and autonomic, type VII NCBI curation C3809882 615548 13 Aug 2017 Disease Neuropathy, hereditary sensory and autonomic, type VIII NCBI curation C4225308 616488 04 Sep 2016 Disease Neuropathy, hereditary sensory, atypical NCBI curation C1850384 256860 16 Feb 2016 Disease NEUROPATHY, HEREDITARY SENSORY, TYPE IC CN068843 16 Feb 2016 Disease Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive NCBI curation C1850395 256840 16 Feb 2016 Disease Neuropathy, hereditary sensory, X-linked NCBI curation C1839602 310470 16 Feb 2016 Disease Neuropathy, hereditary thermosensitive NCBI curation C1865856 602107 16 Feb 2016 Disease Neuropathy, painful NCBI curation C1850383 256870 16 Feb 2016 Disease Neuropathy, with paraprotein in serum, cerebrospinal fluid and urine NCBI curation C1834180 162600 16 Feb 2016 Disease NEUROPEPTIDE Y POLYMORPHISM 16 Feb 2016 Disease Neurophysiologic defect in schizophrenia NCBI curation CN043325 16 Feb 2016 Disease Neuroplasm of the autonomic nervous system Human Phenotype Ontology C4072943 HP:0030450 16 Feb 2016 Finding Neuropsychiatric disorder and early-onset cataract NCBI curation C4016618 16 Feb 2016 Disease Neuropsychiatric disorders 18 May 2018 Finding neuropsychomotor delay 22 Oct 2019 Finding Neuroregression 05 Sep 2017 Finding Neuroretinitis MONDO C0154874 MONDO:0000958 17 Apr 2020 Disease Neurosarcoidosis MONDO C0393485 MONDO:0045047 17 Apr 2020 Disease Neuroschistosomiasis MONDO C0752191 MONDO:0005874 04 Jun 2020 Infectious disease neurosensorial hearing loss 22 Aug 2019 Finding Neurosyphilis C0027927 16 Feb 2016 Infectious disease Neurothekeoma MONDO C0206730 MONDO:0006317 17 Apr 2020 Disease Neurotic depression MONDO C0282126 MONDO:0024614 17 Apr 2020 Disease Neurotic disorder MONDO MONDO:0005379 17 Apr 2020 Disease Neurotic excoriation MONDO C1274184 MONDO:0006586 17 Apr 2020 Disease Neurotrophic keratoconjunctivitis MONDO C0155084 MONDO:0001440 17 Apr 2020 Disease Neurotrophic keratopathy MONDO C0339296 MONDO:0015290 17 Apr 2020 Disease Neurovascular disease MONDO C3898144 MONDO:0043218 17 Apr 2020 Disease Neurovascular malformation MONDO CN226608 MONDO:0015145 17 Apr 2020 Disease Neurovisceral storage disease with curvilinear bodies NCBI curation C1850382 257000 16 Feb 2016 Disease Neutral 1 amino acid transport defect NCBI curation C0018609 234500 16 Feb 2016 Disease Neutral hyperaminoaciduria Human Phenotype Ontology C1856194 HP:0008353 16 Feb 2016 Finding Neutral lipid storage myopathy MONDO C1853136 MONDO:0012545 610717 17 Apr 2020 Disease Neutropenia Human Phenotype Ontology C0853697 HP:0001875 16 Feb 2016 Finding Neutropenia monocytopenia deafness 16 Feb 2016 Disease Neutropenia, lethal congenital, with eosinophilia MONDO C1850381 MONDO:0009754 257100 22 Apr 2020 Disease Neutropenia, nonimmune chronic idiopathic, of adults NCBI curation C1842930 607847 16 Feb 2016 Disease Neutropenia, severe congenital 1, autosomal dominant NCBI curation C1859966 202700 24 Jun 2019 Disease Neutropenia, severe congenital, 7, autosomal recessive NCBI curation C4310764 617014 24 Aug 2016 Disease NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT OMIM C5203411 618752 618752 02 Feb 2020 Disease Neutropenia-monocytopenia-deafness syndrome MONDO C4518430 MONDO:0017100 17 Apr 2020 Disease Neutrophil actin dysfunction NCBI curation C1850380 257150 16 Feb 2016 Disease Neutrophil immunodeficiency syndrome NCBI curation C1842398 608203 16 Feb 2016 Disease Neutrophil inclusion bodies Human Phenotype Ontology C4021547 HP:0008264 16 Feb 2016 Finding Neutrophil migration NCBI curation C0312860 162820 24 Aug 2016 Disease NEUTROPHIL-SPECIFIC ANTIGEN: ND1 OMIM CN257785 162880 162880 16 Nov 2018 Disease Neutrophil-specific antigens NA1/NA2 NCBI curation C4017227 13 Feb 2020 Disease Neutrophilia Human Phenotype Ontology C0151683 HP:0011897 04 Apr 2018 Finding Neutrophilic infiltration of the skin Human Phenotype Ontology C4531258 HP:0031234 04 Apr 2018 Finding Nevada syndrome MONDO C4751431 MONDO:0018261 17 Apr 2020 Disease Nevi flammei, familial multiple C2931029 16 Feb 2016 Disease nevirapine response - Other PharmGKB CN236608 981202294 18 May 2016 Pharmacological response nevirapine response - Toxicity/ADR PharmGKB CN236609 1183679785 18 May 2016 Pharmacological response Nevoid hypermelanosis, linear and whorled NCBI curation C1304501 614323 16 Feb 2016 Disease Nevus Human Phenotype Ontology C0027960 HP:0003764 16 Feb 2016 Finding Nevus anemicus Human Phenotype Ontology C0265982 HP:0025105 163050 16 Feb 2016 Disease Nevus comedonicus NCBI curation C0265987 617025 24 Aug 2016 Disease Nevus flammeus Human Phenotype Ontology C0235752 HP:0001052 16 Feb 2016 Finding Nevus flammeus nuchae Human Phenotype Ontology C4024829 HP:0007616 16 Feb 2016 Finding Nevus flammeus of nape of neck NCBI curation C2697447 163100 16 Feb 2016 Disease Nevus flammeus of the forehead Human Phenotype Ontology C1848850 HP:0007413 16 Feb 2016 Finding Nevus of Ota Human Phenotype Ontology C0027961 HP:0009920 16 Feb 2016 Finding Nevus of ota retinitis pigmentosa 16 Feb 2016 Disease Nevus roseus Human Phenotype Ontology C4476594 HP:0025106 02 Apr 2017 Finding Nevus sebaceous Human Phenotype Ontology C3854181 HP:0010815 16 Feb 2016 Finding Nevus sebaceus Human Phenotype Ontology C4476818 HP:0025511 04 Apr 2018 Finding Nevus spillus Human Phenotype Ontology CN911648 HP:0025510 04 Apr 2018 Finding Nevus spilus NCBI curation C0346099 16 Feb 2016 Disease NEVUS SPILUS, SOMATIC 16 Feb 2016 Disease Nevus, woolly hair NCBI curation C0343114 16 Feb 2016 Disease new daily headache 05 Sep 2019 Finding new daily persistent headache syndrome 05 Sep 2019 Finding New-onset refractory status epilepticus MONDO C4749462 MONDO:0018199 17 Apr 2020 Disease newborn tachypnea 19 Jul 2018 Finding Newcastle disease MONDO C0027983 MONDO:0005875 04 Jun 2020 Infectious disease Newfoundland rod-cone dystrophy NCBI curation C1843815 607476 16 Feb 2016 Disease NEXN-Related Disorders 23 May 2019 Disease NF1 microduplication syndrome NCBI curation C3495679 16 Feb 2016 Disease NFIA-related disorders 29 Aug 2019 Disease Nguyen syndrome C1864823 609643 16 Feb 2016 Disease Nicolaides-Baraitser syndrome C1303073 601358 16 Feb 2016 Disease Nicotine addiction, protection against NCBI curation C4015943 16 Feb 2016 Disease Nicotine dependence C0028043 01 Mar 2017 Disease Nicotine dependence, protection against NCBI curation C4016025 16 Feb 2016 Disease nicotine response - Efficacy PharmGKB CN236568 981202618 18 May 2016 Pharmacological response nicotine response - Efficacy, Toxicity/ADR PharmGKB CN240602 1448101182 17 Feb 2017 Pharmacological response nicotine response - Metabolism/PK PharmGKB CN236603 655385004 18 May 2016 Pharmacological response nicotine response - Toxicity/ADR PharmGKB CN236610 1444700391 18 May 2016 Pharmacological response nicotine response - Toxicity/ADR, Metabolism/PK PharmGKB CN240606 1447963078 17 Feb 2017 Pharmacological response Nicotine, poor metabolism of NCBI curation C1852516 16 Feb 2016 Disease Nid a NCBI curation 16 Feb 2016 Disease Nidovirales infectious disease MONDO C0969753 MONDO:0005876 04 Jun 2020 Infectious disease Niemann-Pick disease type C, adult neurologic onset MONDO CN201116 MONDO:0016310 17 Apr 2020 Disease Niemann-Pick disease type C, juvenile neurologic onset MONDO CN201115 MONDO:0016309 17 Apr 2020 Disease Niemann-Pick disease type C, late infantile neurologic onset MONDO CN201114 MONDO:0016308 17 Apr 2020 Disease Niemann-Pick disease type C, severe early infantile neurologic onset MONDO CN201113 MONDO:0016307 17 Apr 2020 Disease Niemann-Pick disease type C, severe perinatal form MONDO CN201112 MONDO:0016306 17 Apr 2020 Disease Niemann-Pick disease type C1 NCBI curation C3179455 257220 16 Feb 2016 Disease Niemann-Pick disease type E MONDO MONDO:0020384 22 Apr 2020 Disease Niemann-pick disease, intermediate, protracted neurovisceral NCBI curation C2675646 16 Feb 2016 Disease Niemann-pick disease, intermediate, with visceral involvement and rapid progression NCBI curation 16 Feb 2016 Disease Niemann-Pick disease, type A C0268242 257200 16 Feb 2016 Disease Niemann-Pick disease, type B NCBI curation C0268243 607616 16 Feb 2016 Disease Niemann-Pick disease, type C NCBI curation C0220756 16 Feb 2016 Disease Niemann-Pick disease, type C1, adult form NCBI curation C4017105 26 Sep 2016 Disease Niemann-Pick disease, type C1, juvenile form NCBI curation C4017106 13 Aug 2017 Disease Niemann-Pick disease, type C2 MONDO C1843366 MONDO:0011873 607625 22 Apr 2020 Disease Niemann-Pick disease, type D NCBI curation C0268247 16 Feb 2016 Disease NIEMANN-PICK DISEASE, TYPE F 16 Feb 2016 Disease Nievergelt's syndrome C0432231 163400 16 Feb 2016 Disease Nifedipine response NCBI curation CN226435 16 Feb 2016 Pharmacological response Night blindness skeletal anomalies unusual facies 16 Feb 2016 Disease Night blindness, congenital stationary (complete), 1A, X-linked CN260057 19 Jun 2019 Disease Night blindness, congenital stationary (complete), 1B, autosomal recessive CN260058 19 Jun 2019 Disease Night blindness, congenital stationary (complete), 1C, autosomal recessive CN260059 19 Jun 2019 Disease Night blindness, congenital stationary (complete), 1D, autosomal recessive CN260060 19 Jun 2019 Disease Night blindness, congenital stationary (complete), 1E, autosomal recessive CN260061 19 Jun 2019 Disease Night blindness, congenital stationary (complete), 1F, autosomal recessive CN260062 19 Jun 2019 Disease Night blindness, congenital stationary (incomplete), 2A, X-linked CN260063 19 Jun 2019 Disease Night blindness, congenital stationary, type 1g NCBI curation C4225345 616389 16 Feb 2016 Disease Night blindness, congenital stationary, type 1h NCBI curation C4310758 617024 24 Aug 2016 Disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1I 07 Sep 2019 Disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I OMIM C5231408 618555 618555 30 Aug 2019 Disease Night blindness-skeletal anomalies-dysmorphism syndrome MONDO CN199356 MONDO:0015326 17 Apr 2020 Disease Night gasping Human Phenotype Ontology C4531081 HP:0031503 04 Apr 2018 Finding Night sweats Human Phenotype Ontology C0028081 HP:0030166 16 Feb 2016 Finding night terrors 05 Sep 2019 Finding Nijmegen breakage syndrome-like disorder NCBI curation C2751318 613078 16 Feb 2016 Disease NIK deficiency Orphanet CN714015 ORPHA447731 26 Dec 2017 Disease Nilotinib response CN077998 16 Feb 2016 Pharmacological response Nipah virus disease MONDO CN269513 MONDO:0020499 04 Jun 2020 Infectious disease Nipah virus encephalitis 16 Feb 2016 Disease Nipple carcinoma MONDO C1334966 MONDO:0003950 17 Apr 2020 Disease Nipple duct carcinoma MONDO C1334967 MONDO:0004409 17 Apr 2020 Disease Nipple neoplasm MONDO C1112166 MONDO:0002482 17 Apr 2020 Disease NIZON-ISIDOR SYNDROME OMIM CN280885 618872 618872 07 May 2020 Disease NK-cell enteropathy MONDO C4509932 MONDO:0016996 17 Apr 2020 Disease NO Abnormality of brain morphology 27 Apr 2018 Finding no Bench Jones protein secretion 14 Feb 2020 Finding No dysmorphism 06 Nov 2018 Finding No MEN2 disease 16 Feb 2016 Disease No permanent dentition Human Phenotype Ontology C4024666 HP:0008498 16 Feb 2016 Finding NO Slanting of the palpebral fissure 27 Apr 2018 Finding No social interaction Human Phenotype Ontology C1849683 HP:0008763 16 Feb 2016 Finding Noble Bass Sherman syndrome 16 Feb 2016 Disease Nocardiosis C0028242 16 Feb 2016 Infectious disease Nocturia Human Phenotype Ontology C0028734 HP:0000017 16 Feb 2016 Finding Nocturnal enuresis MONDO C0270327 MONDO:0000022 17 Apr 2020 Disease Nocturnal enuresis Human Phenotype Ontology C0270327 HP:0010677 17 Apr 2020 Disease Nocturnal enuresis 1 NCBI curation CN263368 600631 17 Mar 2020 Disease Nocturnal frontal lobe epilepsy NCBI curation C4313718 26 Dec 2017 Disease Nocturnal hypoventilation Human Phenotype Ontology C1843643 HP:0002877 16 Feb 2016 Finding Nocturnal lagophthalmos Human Phenotype Ontology C1563118 HP:0030002 16 Feb 2016 Finding Nocturnal paroxysmal dystonia MONDO C0393777 MONDO:0043969 17 Apr 2020 Disease Nocturnal tonic seizures 01 Nov 2018 Finding Nodal marginal zone B-cell lymphoma MONDO C0855139 MONDO:0019465 17 Apr 2020 Disease Nodal rhythm CN221601 16 Feb 2016 Disease NODAL-Related Disorders CN239298 02 Dec 2016 Disease NODAL-Related Holoprosencephaly NCBI curation CN120371 16 Feb 2016 Disease Nodular basal cell carcinoma MONDO C4083056 MONDO:0002937 17 Apr 2020 Disease Nodular changes affecting the eyelids Human Phenotype Ontology C4023716 HP:0010732 16 Feb 2016 Finding Nodular corneal dystrophy Human Phenotype Ontology C4024792 HP:0007827 16 Feb 2016 Finding Nodular cutaneous amyloidosis MONDO C4274331 MONDO:0015302 17 Apr 2020 Disease Nodular degeneration of cornea MONDO C0155122 MONDO:0002449 17 Apr 2020 Disease Nodular episcleritis MONDO C0155352 MONDO:0004170 17 Apr 2020 Disease Nodular fasciitis NCBI curation C0410005 29 Oct 2018 Disease Nodular ganglioneuroblastoma MONDO C1517445 MONDO:0003325 17 Apr 2020 Disease Nodular goiter Human Phenotype Ontology C0018023 HP:0005994 16 Feb 2016 Finding Nodular heterotopia C0431378 18 Jan 2019 Finding Nodular hidradenoma MONDO C0206671 MONDO:0002189 17 Apr 2020 Disease Nodular inflammatory vasculitis Human Phenotype Ontology C4025219 HP:0005300 16 Feb 2016 Finding Nodular lichen myxedematosus MONDO C4273968 MONDO:0019578 17 Apr 2020 Disease Nodular malignant melanoma MONDO C0334424 MONDO:0000930 17 Apr 2020 Disease Nodular medulloblastoma MONDO MONDO:0002799 17 Apr 2020 Disease Nodular neuronal heterotopia MONDO CN226894 MONDO:0016292 17 Apr 2020 Disease Nodular non-suppurative panniculitis MONDO C0030328 MONDO:0018063 17 Apr 2020 Disease Nodular pattern on pulmonary HRCT Human Phenotype Ontology C4476750 HP:0025392 04 Apr 2018 Finding Nodular regenerative hyperplasia of liver Human Phenotype Ontology C1318485 HP:0011954 16 Feb 2016 Finding Nodular regenerative hyperplasia of the liver MONDO CN205145 MONDO:0018835 17 Apr 2020 Disease Nodular sclerosis classical Hodgkin lymphoma MONDO MONDO:0004665 17 Apr 2020 Disease Nodular septal thickening on pulmonary HRCT Human Phenotype Ontology C4476634 HP:0025173 04 Apr 2018 Finding Nodular urticaria pigmentosa MONDO MONDO:0015556 17 Apr 2020 Disease Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT Human Phenotype Ontology C4476757 HP:0025399 04 Apr 2018 Finding Nodular-perilymphatic pattern on pulmonary HRCT Human Phenotype Ontology C4476756 HP:0025398 04 Apr 2018 Finding Nodular-random pattern on pulmonary HRCT Human Phenotype Ontology C4476758 HP:0025400 04 Apr 2018 Finding Noduli cutanei, multiple, with urinary tract abnormalities NCBI curation C1834143 163850 16 Feb 2016 Disease NoiseNot providedinduced hearing loss, susceptibility to, association NCBI curation 16 Feb 2016 Disease Non functioning pancreatic endocrine tumor 16 Feb 2016 Disease non paroxysmal spell 05 Sep 2019 Finding Non progressive epilepsy and/or ataxia with myoclonus as a major feature MONDO CN261847 MONDO:0017654 17 Apr 2020 Disease Non sideroblastic anemia NCBI curation CN165724 16 Feb 2016 Disease Non specific chronic endometritis MONDO C1335061 MONDO:0003051 17 Apr 2020 Disease Non syndromic Hirschsprung Disease CN868263 16 Mar 2018 Disease Non-24-hour sleep-wake syndrome MONDO C0751759 MONDO:0019137 17 Apr 2020 Disease Non-acidotic proximal tubulopathy Human Phenotype Ontology C4025176 HP:0005574 16 Feb 2016 Finding Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations MONDO CN226740 MONDO:0015789 17 Apr 2020 Disease Non-acquired combined pituitary hormone deficiency MONDO CN227542 MONDO:0018762 17 Apr 2020 Disease Non-acquired combined pituitary hormone deficiency with spine abnormalities MONDO C3489787 MONDO:0009091 221750 17 Apr 2020 Disease Non-acquired pituitary hormone deficiency MONDO CN229228 MONDO:0019824 17 Apr 2020 Disease Non-alcoholic fatty liver disease MONDO MONDO:0013209 17 Apr 2020 Disease Non-alcoholic steatohepatitis MONDO MONDO:0007027 17 Apr 2020 Disease Non-amyloid fibrillary glomerulopathy MONDO C4273674 MONDO:0019990 17 Apr 2020 Disease Non-amyloid monoclonal immunoglobulin deposition disease MONDO CN206242 MONDO:0019463 17 Apr 2020 Disease Non-autoimmune hemolytic anemia MONDO C0028283 MONDO:0021559 17 Apr 2020 Disease Non-caseating epithelioid cell granulomatosis Human Phenotype Ontology C4022999 HP:0012220 16 Feb 2016 Finding Non-central nervous system-localized embryonal carcinoma MONDO CN202968 MONDO:0017328 17 Apr 2020 Disease Non-classic congenital adrenal hyperplasia MONDO C0342467 MONDO:0023601 22 Apr 2020 Disease Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency MONDO CN204124 MONDO:0017973 17 Apr 2020 Disease Non-compaction cardiomyopathy MONDO MONDO:0005418 17 Apr 2020 Disease Non-congenital cyst of kidney MONDO C0268799 MONDO:0004840 17 Apr 2020 Disease Non-cutaneous melanoma MONDO C1334974 MONDO:0006320 17 Apr 2020 Disease Non-distal monosomy 10q MONDO C4749375 MONDO:0015546 17 Apr 2020 Disease Non-distal monosomy 12q MONDO C5190525 MONDO:0019900 17 Apr 2020 Disease Non-distal monosomy 20q MONDO CN227717 MONDO:0019901 17 Apr 2020 Disease Non-distal monosomy 7p MONDO MONDO:0019894 17 Apr 2020 Disease Non-distal trisomy 10q MONDO C4749376 MONDO:0015712 17 Apr 2020 Disease Non-distal trisomy 13q MONDO C4707260 MONDO:0015724 17 Apr 2020 Disease Non-distal trisomy 9q MONDO C4707261 MONDO:0019890 17 Apr 2020 Disease Non-dystrophic myopathy with collagen 6 anomaly MONDO MONDO:0016111 17 Apr 2020 Disease Non-dystrophic myotonic disorders 16 Feb 2016 Disease Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome MONDO C1848903 MONDO:0010104 273050 17 Apr 2020 Disease Non-familial dilated cardiomyopathy MONDO CN226906 MONDO:0016338 17 Apr 2020 Disease Non-familial hypertrophic cardiomyopathy MONDO CN226903 MONDO:0016330 17 Apr 2020 Disease Non-familial rare disease with dilated cardiomyopathy MONDO CN204097 MONDO:0017952 17 Apr 2020 Disease Non-familial restrictive cardiomyopathy MONDO CN226908 MONDO:0016345 17 Apr 2020 Disease Non-functional pancreatic neuroendocrine tumor MONDO C1334977 MONDO:0004334 17 Apr 2020 Disease Non-functioning adrenal cortex adenoma MONDO C1709240 MONDO:0006321 17 Apr 2020 Disease Non-functioning endocrine neoplasm MONDO C2986656 MONDO:0021119 17 Apr 2020 Disease Non-functioning pituitary gland neoplasm MONDO MONDO:0003603 17 Apr 2020 Disease Non-genetic MONDO MONDO:0021151 17 Apr 2020 Disease Non-genetic cardiac rhythm disease MONDO CN201186 MONDO:0016348 17 Apr 2020 Disease Non-gestational choriocarcinoma MONDO C1135873 MONDO:0006871 17 Apr 2020 Disease Non-gestational ovarian choriocarcinoma MONDO C1518355 MONDO:0004322 17 Apr 2020 Disease Non-hereditary degenerative ataxia MONDO CN226970 MONDO:0016592 17 Apr 2020 Disease Non-hereditary retinoblastoma MONDO CN204600 MONDO:0018161 17 Apr 2020 Disease Non-herpetic acute limbic encephalitis MONDO C4707262 MONDO:0015596 17 Apr 2020 Disease Non-Hodgkin lymphoma Human Phenotype Ontology C4721532 HP:0012539 605027 06 Jul 2018 Disease Non-Hodgkin lymphoma, childhood 16 Feb 2016 Disease Non-Hodgkin lymphoma, during pregnancy 16 Feb 2016 Disease Non-hypoproteinemic hypertrophic gastropathy MONDO C4750834 MONDO:0018009 17 Apr 2020 Disease Non-immune hydrops fetalis NCBI curation C0455988 236750 16 Feb 2016 Disease Non-immunoglobulin-mediated membranoproliferative glomerulonephritis MONDO C4087273 MONDO:0018013 17 Apr 2020 Disease Non-infectious anterior uveitis MONDO C0339317 MONDO:0017634 17 Apr 2020 Disease Non-infectious diarrheal disease MONDO C0267436 MONDO:0045030 17 Apr 2020 Disease Non-infectious meningitis MONDO C0393442 MONDO:0024891 17 Apr 2020 Disease Non-infectious posterior uveitis MONDO CN229191 MONDO:0019541 17 Apr 2020 Disease Non-inflammatory vasculopathy MONDO CN258440 MONDO:0024471 17 Apr 2020 Disease Non-invasive bladder papillary urothelial neoplasm MONDO C1518358 MONDO:0003822 17 Apr 2020 Disease Non-invasive bladder urothelial carcinoma MONDO C1336089 MONDO:0003930 17 Apr 2020 Disease Non-invasive verrucous carcinoma of the penis MONDO C1334984 MONDO:0003697 17 Apr 2020 Disease Non-involuting congenital hemangioma MONDO C1275417 MONDO:0015403 17 Apr 2020 Disease Non-keratinizing sinonasal squamous cell carcinoma MONDO C0334270 MONDO:0002831 17 Apr 2020 Disease Non-ketotic hyperglycinemia C0751748 605899 16 Feb 2016 Disease Non-Langerhans cell histiocytosis MONDO C0019624 MONDO:0015531 22 Apr 2020 Disease Non-lesional parietal lobe epilepsy 29 Jan 2020 Disease Non-lissencephalic cortical dysplasia 16 Feb 2016 Disease Non-medullary thyroid carcinoma Human Phenotype Ontology C3501843 HP:0040198 02 Apr 2017 Disease Non-midline cleft lip Human Phenotype Ontology C4021020 HP:0100335 16 Feb 2016 Finding Non-midline cleft palate Human Phenotype Ontology C4022142 HP:0100338 16 Feb 2016 Finding Non-neonatal early infantile epileptic encephalopathy MONDO MONDO:0100107 17 Apr 2020 Disease Non-neoplastic bile duct disorder MONDO C3275160 MONDO:0006322 17 Apr 2020 Disease Non-neoplastic nevus MONDO C0265027 MONDO:0022749 17 Apr 2020 Disease Non-obstructive azoospermia Human Phenotype Ontology C4021107 HP:0011961 16 Feb 2016 Finding Non-ossifying fibromyxoid tumor MONDO C1335063 MONDO:0004529 17 Apr 2020 Disease Non-papillary transitional cell carcinoma of the bladder MONDO CN200968 MONDO:0016211 17 Apr 2020 Disease Non-paraneoplastic limbic encephalitis MONDO CN228966 MONDO:0015594 17 Apr 2020 Disease Non-paraneoplastic sensory ganglionopathy MONDO CN229038 MONDO:0016173 17 Apr 2020 Disease Non-pregnancy related A-G syndrome C0271556 104600 16 Feb 2016 Disease Non-progressive congenital cerebellar ataxia 14 Feb 2019 Disease Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus 17 Oct 2019 Disease Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy MONDO CN237596 MONDO:0018576 17 Apr 2020 Disease Non-proliferative fibrocystic change of the breast MONDO C1332628 MONDO:0003724 17 Apr 2020 Disease Non-pruritic urticaria Human Phenotype Ontology C4023519 HP:0011137 16 Feb 2016 Finding Non-psychogenic polydipsia MONDO MONDO:0040872 17 Apr 2020 Disease Non-rapid eye movement parasomnia Human Phenotype Ontology C4476680 HP:0025235 02 Apr 2017 Finding Non-recovering obstetric brachial plexus lesion MONDO CN237616 MONDO:0018587 17 Apr 2020 Disease Non-renal secondary hyperparathyroidism MONDO MONDO:0001750 17 Apr 2020 Disease Non-restrictive ventricular septal defect Human Phenotype Ontology C1298817 HP:0011684 16 Feb 2016 Finding Non-rhizomelic chondrodysplasia punctata MONDO CN226737 MONDO:0015775 17 Apr 2020 Disease Non-secreting chemodectoma MONDO CN260630 MONDO:0015102 17 Apr 2020 Disease Non-secreting paraganglioma MONDO C4707263 MONDO:0019788 17 Apr 2020 Disease Non-secretory adrenocortical adenoma Human Phenotype Ontology C4021126 HP:0011745 16 Feb 2016 Finding Non-secretory plasma cell myeloma MONDO C3898125 MONDO:0004817 17 Apr 2020 Disease Non-seminomatous lesion MONDO C1335059 MONDO:0006323 17 Apr 2020 Disease Non-severe combined immunodeficiency MONDO CN776921 MONDO:0018814 17 Apr 2020 Disease Non-small cell lung cancer Human Phenotype Ontology C0007131 HP:0030358 10 Apr 2018 Disease Non-small cell lung cancer, childhood 16 Feb 2016 Disease Non-small cell squamous lung carcinoma MONDO MONDO:0056806 17 Apr 2020 Disease Non-specific granulomatous orchitis MONDO C0436545 MONDO:0002509 17 Apr 2020 Disease Non-specific interstitial pneumonia MONDO C1290344 MONDO:0019622 04 Jun 2020 Infectious disease Non-specific isolated abdominal echogenic focus 03 Mar 2020 Finding Non-suppurative otitis media MONDO C0271446 MONDO:0001212 17 Apr 2020 Disease Non-syndromic brachydactyly MONDO MONDO:0017424 17 Apr 2020 Disease Non-syndromic brachydactyly of fingers MONDO MONDO:0017451 17 Apr 2020 Disease Non-syndromic brachydactyly of toes MONDO MONDO:0017452 17 Apr 2020 Disease Non-syndromic central nervous system malformation MONDO CN226636 MONDO:0015219 17 Apr 2020 Disease Non-syndromic congenital joint dislocations MONDO CN227131 MONDO:0017430 17 Apr 2020 Disease Non-syndromic developmental defect of the eye MONDO MONDO:0015217 17 Apr 2020 Disease Non-syndromic diaphragmatic or abdominal wall malformation MONDO CN226632 MONDO:0015215 17 Apr 2020 Disease Non-syndromic diaphragmatic or thoracic malformation MONDO CN226769 MONDO:0015879 17 Apr 2020 Disease Non-syndromic esophageal malformation MONDO CN226624 MONDO:0015207 17 Apr 2020 Disease Non-syndromic gastroduodenal malformation MONDO CN226626 MONDO:0015209 17 Apr 2020 Disease Non-Syndromic Hereditary Hearing Impairment 07 Apr 2020 Disease Non-syndromic intellectual disability MONDO CN280315 MONDO:0000509 22 Apr 2020 Disease Non-syndromic intestinal malformation MONDO CN226628 MONDO:0015211 17 Apr 2020 Disease Non-syndromic limb malformation MONDO CN226641 MONDO:0015227 17 Apr 2020 Disease Non-syndromic limb overgrowth MONDO CN261048 MONDO:0017431 17 Apr 2020 Disease Non-syndromic limb reduction defect MONDO CN227679 MONDO:0019713 17 Apr 2020 Disease Non-syndromic male infertility due to sperm motility disorder Orphanet CN252641 ORPHA276234 12 Jul 2018 Disease Non-syndromic oligodontia CN233186 16 Feb 2016 Disease Non-syndromic polydactyly, syndactyly and/or hyperphalangy MONDO CN227680 MONDO:0019714 17 Apr 2020 Disease Non-syndromic pontocerebellar hypoplasia NCBI curation CN924922 08 Apr 2018 Disease Non-syndromic renal or urinary tract malformation MONDO CN227682 MONDO:0019720 17 Apr 2020 Disease Non-syndromic respiratory or mediastinal malformation MONDO CN226637 MONDO:0015221 17 Apr 2020 Disease Non-syndromic syndactyly MONDO C0039075 MONDO:0019530 17 Apr 2020 Disease Non-syndromic synpolydactyly MONDO MONDO:0000722 17 Apr 2020 Disease Non-syndromic terminal limb defects MONDO MONDO:0017421 17 Apr 2020 Disease Non-syndromic urogenital tract malformation MONDO CN226714 MONDO:0015619 17 Apr 2020 Disease Non-syndromic urogenital tract malformation of female MONDO CN226791 MONDO:0015932 17 Apr 2020 Disease Non-syndromic urogenital tract malformation of male MONDO CN226792 MONDO:0015933 17 Apr 2020 Disease Non-syndromic urogenital tract malformation of male and female MONDO CN226793 MONDO:0015934 17 Apr 2020 Disease Non-syndromic uterovaginal malformation MONDO CN226748 MONDO:0015829 17 Apr 2020 Disease Non-syndromic visceral malformation MONDO CN226630 MONDO:0015213 17 Apr 2020 Disease Non-syndromic X-linked intellectual disability NCBI curation C3501611 16 Feb 2016 Disease non-thyroidal illness syndrome 24 Jul 2018 Finding Non-verbal CN234402 16 Feb 2016 Finding Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature MONDO CN227302 MONDO:0018286 17 Apr 2020 Disease Nonanaplastic kidney Wilms tumor MONDO C1335062 MONDO:0003316 17 Apr 2020 Disease Nonarteriosclerotic cerebral calcification Human Phenotype Ontology C4021579 HP:0007238 16 Feb 2016 Finding Nonarteritic anterior ischemic optic neuropathy Human Phenotype Ontology C1852242 HP:0007634 16 Feb 2016 Finding Nonarteritic anterior ischemic optic neuropathy, susceptibility to NCBI curation C1847711 258660 16 Feb 2016 Disease Nonclassic cystic fibrosis NCBI curation 16 Feb 2016 Disease Noncommunicating hydrocephalus Human Phenotype Ontology C0549423 HP:0010953 16 Feb 2016 Finding Noncompaction cardiomyopathy Human Phenotype Ontology C1839832 HP:0012817 16 Feb 2016 Finding Noncompaction of left ventricular myocardium, familial isolated NCBI curation CN069569 16 Feb 2016 Disease Nonconvulsive status epilepticus Human Phenotype Ontology C0751523 HP:0031475 04 Apr 2018 Finding nondiabetic retinopathy 14 Mar 2019 Finding Nondisjunction NCBI curation C1834741 158250 16 Feb 2016 Disease Nondystrophic myotonia C2931139 16 Feb 2016 Disease none C0549184 22 Aug 2019 Finding none provided CN235283 19 Feb 2016 Finding Nonepidermolytic palmoplantar keratoderma Human Phenotype Ontology C1833030 HP:0007404 600962 04 Apr 2018 Disease Nongerminomatous germ cell tumor MONDO MONDO:0021656 17 Apr 2020 Disease Nongoitrous Euthyroid Hyperthyrotropinemia 15 Feb 2019 Disease Nongranulomatous uveitis Human Phenotype Ontology C4024795 HP:0007813 16 Feb 2016 Finding Nonimmune hydrops fetalis Human Phenotype Ontology C1856457 HP:0001790 16 Feb 2016 Finding Noninfectious dermatoses of eyelid MONDO C0155176 MONDO:0002137 17 Apr 2020 Disease Noninvasive malignant thymoma MONDO C0278847 MONDO:0004147 17 Apr 2020 Disease Nonketotic hypoglycemia Human Phenotype Ontology C1865292 HP:0001958 16 Feb 2016 Finding Nonmedullary thyroid carcinoma 1 NCBI curation C4721429 188550 14 Jan 2018 Disease Nonmotile sperm Human Phenotype Ontology C4023001 HP:0012208 16 Feb 2016 Finding Nonmucinous bronchioloalveolar adenocarcinoma MONDO MONDO:0000895 17 Apr 2020 Disease Nonnuclear polymorphic congenital cataract Human Phenotype Ontology C3888391 HP:0007692 16 Feb 2016 Finding Nonocclusive coronary artery disease Human Phenotype Ontology C4020725 HP:0012436 16 Feb 2016 Finding Nonopposable triphalangeal thumb Human Phenotype Ontology C2931238 HP:0005725 16 Feb 2016 Finding Nonossified fifth metatarsal Human Phenotype Ontology C1844712 HP:0008087 16 Feb 2016 Finding Nonpapillary renal carcinoma 1 locus NCBI curation 16 Feb 2016 Disease Nonpersistence of intestinal lactase NCBI curation C0268181 223100 16 Feb 2016 Disease Nonproductive cough Human Phenotype Ontology C0850149 HP:0031246 04 Apr 2018 Finding Nonprogressive cerebellar ataxia Human Phenotype Ontology C1845029 HP:0002470 16 Feb 2016 Finding Nonprogressive encephalopathy Human Phenotype Ontology C4024950 HP:0007030 16 Feb 2016 Finding Nonprogressive muscular atrophy Human Phenotype Ontology C4024611 HP:0008964 16 Feb 2016 Finding Nonprogressive restrictive external ophthalmoplegia Human Phenotype Ontology C4024789 HP:0007831 16 Feb 2016 Finding Nonprogressive visual loss Human Phenotype Ontology C4021893 HP:0200068 16 Feb 2016 Finding Nonsmall cell lung cancer, resistance to tyrosine kinase inhibitor in NCBI curation C4016033 16 Feb 2016 Disease Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic NCBI curation C4016032 16 Feb 2016 Disease nonspecific elevation of levels of transaminase or lactic acid dehydrogenase 14 Mar 2019 Finding Nonspherocytic hemolytic anemia Human Phenotype Ontology C4025735 HP:0001930 16 Feb 2016 Finding Nonsyndromic cleft lip palate 15 Feb 2019 Disease Nonsyndromic cleft lip with or without cleft palate NCBI curation C1861538 01 Jul 2016 Disease nonsyndromic cleft palate CN234898 16 Feb 2016 Disease Nonsyndromic congenital nail disorder 2 MONDO C0266000 MONDO:0007867 149300 22 Apr 2020 Disease Nonsyndromic congenital nail disorder 7 MONDO C1853984 MONDO:0011595 605779 22 Apr 2020 Disease Nonsyndromic Deafness C3711374 16 Feb 2016 Disease Nonsyndromic hearing loss CN237785 29 Jul 2016 Finding Nonsyndromic hearing loss and deafness NCBI curation CN043648 28 Apr 2017 Disease Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive CN043650 16 Feb 2016 Disease Nonsyndromic Hearing Loss, Dominant CN239435 02 Dec 2016 Disease Nonsyndromic Hearing Loss, Mixed CN239440 02 Dec 2016 Disease Nonsyndromic Hearing Loss, Recessive CN239439 02 Dec 2016 Disease Nonsyndromic Hearing Loss, X-Linked CN239399 02 Dec 2016 Disease Nonsyndromic hereditary sensorineural hearing loss 16 Feb 2016 Disease Nonsyndromic hypergonadotropic hypogonadism CN234670 16 Feb 2016 Disease Nonsyndromic microcephaly NCBI curation C2931527 16 Feb 2016 Disease Nonsyndromic Oculocutaneous Albinism CN263337 15 Feb 2019 Disease Nonsyndromic otitis media CN233179 16 Feb 2016 Disease nonsyndromic sensorineural hearing loss C1842137 16 Feb 2016 Finding Nonsyndromic Trigonocephaly CN239481 02 Dec 2016 Disease Nontoxic goiter MONDO C0221777 MONDO:0001658 17 Apr 2020 Disease nontraumatic separation of muscle 05 Sep 2019 Finding Nontuberculous mycobacterial pulmonary infection 09 Apr 2020 Finding Noonan syndrome OMIM phenotypic series C0028326 PS163950 16 Feb 2016 Disease Noonan syndrome 1 NCBI curation C4551602 163950 27 Apr 2020 Disease Noonan syndrome 10 NCBI curation C4225280 616564 16 Feb 2016 Disease NOONAN SYNDROME 11 OMIM C5193130 618499 618499 13 Jul 2019 Disease NOONAN SYNDROME 12 OMIM C5231432 618624 618624 17 Oct 2019 Disease Noonan syndrome 2 C1854469 605275 16 Feb 2016 Disease Noonan syndrome 3 NCBI curation C1860991 609942 16 Feb 2016 Disease Noonan syndrome 4 NCBI curation C1853120 610733 16 Feb 2016 Disease Noonan syndrome 5 C1969057 611553 16 Feb 2016 Disease Noonan syndrome 6 C2750732 613224 16 Feb 2016 Disease Noonan syndrome 7 NCBI curation C3150970 613706 16 Feb 2016 Disease Noonan syndrome 8 NCBI curation C3809233 615355 16 Feb 2016 Disease Noonan syndrome 9 NCBI curation C4225282 616559 16 Feb 2016 Disease Noonan syndrome and Noonan-related syndrome Orphanet CN260604 ORPHA98733 19 Jul 2019 Disease Noonan syndrome with multiple lentigines Orphanet C0175704 ORPHA500 26 Apr 2016 Disease Noonan syndrome-like disorder with juvenile myelomonocytic leukemia NCBI curation C4016301 13 Dec 2018 Disease Noonan syndrome-like disorder with loose anagen hair OMIM phenotypic series C1843181 PS607721 26 Nov 2017 Disease Noonan syndrome-like disorder with loose anagen hair Orphanet C1843181 ORPHA2701 26 Nov 2017 Disease Noonan syndrome-like disorder with loose anagen hair 1 NCBI curation C4478716 607721 26 Nov 2017 Disease Noonan syndrome-like disorder with loose anagen hair 2 NCBI curation C4479577 617506 20 Jun 2017 Disease Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia NCBI curation C3150803 613563 16 Feb 2016 Disease Noonan-like facies CN228297 16 Feb 2016 Finding Noonan-like syndrome C1834120 01 May 2020 Disease Noonan-Like Syndrome Disorder CN239316 02 Dec 2016 Disease NOR polyagglutination syndrome NCBI curation C3549486 16 Feb 2016 Disease Normal 3-OH butyrate levels 01 Nov 2018 Finding Normal birth length 19 Sep 2019 Finding Normal birth weight NCBI curation C0456136 16 Feb 2016 Finding normal blood indices and bone marrow CN186925 16 Feb 2016 Finding Normal breast-like subtype of breast carcinoma MONDO C3642471 MONDO:0006324 17 Apr 2020 Disease Normal chromosomes and PTPN11 testing CN235288 20 Feb 2016 Finding Normal Cognition C2712133 02 Sep 2016 Finding Normal density transverse bands in metaphyses of the upper limbs Human Phenotype Ontology C4025553 HP:0003852 16 Feb 2016 Finding Normal development and skeletal survey CN186927 16 Feb 2016 Finding normal GGT 04 Feb 2019 Disease Normal IgA and IgE CN235535 16 Mar 2016 Finding Normal interictal EEG Human Phenotype Ontology C1843146 HP:0002372 16 Feb 2016 Finding Normal karyotype on amnio CN235270 19 Feb 2016 Finding normal kidneys C1864785 19 Oct 2016 Finding Normal motor development C1851057 16 Feb 2016 Finding Normal neck length 06 Nov 2018 Finding Normal pregnancy C0232989 16 Feb 2016 Finding Normal pressure hydrocephalus Human Phenotype Ontology C0020258 HP:0002343 236690 16 Feb 2016 Disease Normal Prothrombin time/Partial thromboplastin time CN235304 20 Feb 2016 Finding Normal-density transverse humeral bands Human Phenotype Ontology C4025511 HP:0003916 02 Apr 2017 Finding Norman-Roberts syndrome MONDO C0796089 MONDO:0009760 257320 22 Apr 2020 Disease Normochromic anemia Human Phenotype Ontology C0235983 HP:0001895 16 Feb 2016 Finding Normochromic microcytic anemia Human Phenotype Ontology C0271902 HP:0004856 16 Feb 2016 Finding Normocytic anemia Human Phenotype Ontology C0085577 HP:0001897 16 Feb 2016 Finding Normocytic hypoplastic anemia Human Phenotype Ontology C1835875 HP:0004819 16 Feb 2016 Finding Normokalemic periodic paralysis, potassium-sensitive NCBI curation C1868433 16 Feb 2016 Disease Normosmia CN188071 16 Feb 2016 Finding Normosmic CN185905 16 Feb 2016 Finding Normosmic by history CN185906 16 Feb 2016 Finding Norovirus infectious disease MONDO CN281904 MONDO:0100074 04 Jun 2020 Infectious disease Norrie's disease 18 Jan 2019 Finding North american indian childhood cirrhosis NCBI curation C1858051 604901 16 Feb 2016 Disease North Carolina macular dystrophy C0730294 136550 16 Feb 2016 Disease Nortriptyline response NCBI curation C1837159 16 Feb 2016 Pharmacological response nortriptyline response - Dosage, Toxicity/ADR PharmGKB CN236538 1183617220 18 May 2016 Pharmacological response Norum disease C0023195 245900 16 Feb 2016 Disease Norwegian scabies MONDO C0028425 MONDO:0001951 04 Jun 2020 Infectious disease Nose and cavum anomaly MONDO CN226692 MONDO:0015503 17 Apr 2020 Disease Nose somewhat short and tubular 23 Jan 2020 Finding Nose somewhat short and tubular with anteverted nares 23 Jan 2020 Finding nose with bulbous tip 22 Aug 2019 Finding nose with small and round tip with anteverted nostrils 22 Aug 2019 Finding Nose, anomalous shape of MONDO C1834118 MONDO:0008105 164000 17 Apr 2020 Disease Nosocomial infection MONDO C0205721 MONDO:0043544 04 Jun 2020 Infectious disease Nosophobia MONDO C0522182 MONDO:0000600 17 Apr 2020 Disease not being able to sit without support 13 Feb 2020 Finding not intractable epilepsy withoutut status epilepticus 05 Sep 2019 Finding not provided NCBI curation CN517202 09 Oct 2017 Disease Not rare MONDO MONDO:0021137 17 Apr 2020 Disease not specified NCBI curation CN169374 16 Feb 2016 Disease Notalgia paresthetica 16 Feb 2016 Disease NOTCH1-Related Disorders 11 Oct 2018 Disease NOTCH2 N-TERMINAL-LIKE R OMIM C4747953 618026 618026 05 Sep 2019 Disease Notched hand bones Human Phenotype Ontology C4025372 HP:0004284 16 Feb 2016 Finding Notched P wave Human Phenotype Ontology C2983640 HP:0031598 04 Apr 2018 Finding Notched primary central incisor Human Phenotype Ontology C4022912 HP:0012413 16 Feb 2016 Finding notched tongue CN238488 13 Sep 2016 Finding Notched ulna Human Phenotype Ontology C4025462 HP:0003989 16 Feb 2016 Finding notched upper lip CN238487 13 Sep 2016 Finding Notochordal tumor MONDO C1335069 MONDO:0002597 17 Apr 2020 Disease Nova syndrome 16 Feb 2016 Disease Novak syndrome C1859083 215800 16 Feb 2016 Disease Novel multiple malformation syndrome 02 Dec 2019 Finding Novelty seeking personality trait NCBI curation C1866430 601696 16 Feb 2016 Disease NPHP1-Related Disorders 23 May 2019 Disease NPHP4-Related Disorders CN239384 02 Dec 2016 Disease NR2E3-Related Disorders CN239387 02 Dec 2016 Disease NRXN-Related Disorder 13 Oct 2017 Disease NSCC Adenocarcinoma 27 Mar 2018 Finding NSD2-related condition 02 Aug 2019 Finding Nuchal cord Human Phenotype Ontology C0405124 HP:0012498 16 Feb 2016 Finding Nuchal rigidity Human Phenotype Ontology C1320474 HP:0031179 04 Apr 2018 Finding nuchal translucency prenatal 05 Sep 2019 Finding Nuclear cataract Human Phenotype Ontology C0392557 HP:0100018 16 Feb 2016 Finding nuclear cataracts CN228392 16 Feb 2016 Finding Nuclear oculomotor paralysis MONDO MONDO:0015083 17 Apr 2020 Disease Nuclear pulverulent cataract Human Phenotype Ontology C1852438 HP:0010698 16 Feb 2016 Finding Nuclear punctate cataract Human Phenotype Ontology C4023649 HP:0010925 16 Feb 2016 Finding Nuclear receptor subfamily 1, group h, member 5, pseudogene NCBI curation CN240840 617386 20 Jun 2017 Disease Nuclear ribonucleic acid NCBI curation C1839581 310650 16 Feb 2016 Disease Nuclear senile cataract MONDO MONDO:0001847 17 Apr 2020 Disease Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 NCBI curation C3276276 604273 16 Feb 2016 Disease Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 NCBI curation C3279699 614052 16 Feb 2016 Disease Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3 NCBI curation C3279708 614053 16 Feb 2016 Disease NUCLEOSIDE PHOSPHORYLASE POLYMORPHISM 16 Feb 2016 Disease NUDT2-associated condition 18 Sep 2019 Finding Null pituitary adenoma MONDO CN203796 MONDO:0017826 17 Apr 2020 Disease Null syndrome MONDO CN202707 MONDO:0017225 17 Apr 2020 Disease Null-cell leukemia MONDO C0023483 MONDO:0004932 17 Apr 2020 Disease Numerous congenital melanocytic nevi Human Phenotype Ontology C3806415 HP:0005603 16 Feb 2016 Finding numerous granuloma 13 Feb 2020 Finding numerous inflammatory granulomas 13 Feb 2020 Finding Numerous nevi Human Phenotype Ontology C1849677 HP:0001054 16 Feb 2016 Finding Numerous pigmented freckles Human Phenotype Ontology C1968565 HP:0007587 16 Feb 2016 Finding Nummular pigmentation of the retina Human Phenotype Ontology C4072990 HP:0030505 16 Feb 2016 Finding Nut allergic reaction MONDO C0577620 MONDO:0006872 17 Apr 2020 Disease Nut midline carcinoma MONDO C1707291 MONDO:0005563 17 Apr 2020 Disease Nutmeg liver MONDO C0156195 MONDO:0001788 17 Apr 2020 Disease Nutritional biotin deficiency MONDO MONDO:0000461 17 Apr 2020 Disease Nutritional deficiency disease MONDO MONDO:0006873 17 Apr 2020 Disease Nutritional disorder MONDO C3714509 MONDO:0005137 17 Apr 2020 Disease Nutritional or metabolic disease MONDO C0028715 MONDO:0024297 17 Apr 2020 Disease Nyctalopia Human Phenotype Ontology C0028077 HP:0000662 16 Feb 2016 Disease NYS2 OMIM C1834079 164100 164100 17 Apr 2020 Disease NYS2 MONDO C1834079 MONDO:0008106 164100 17 Apr 2020 Disease NYS3 OMIM C1842186 608345 608345 17 Apr 2020 Disease NYS3 MONDO C1842186 MONDO:0012015 608345 17 Apr 2020 Disease NYS4 OMIM C1860433 193003 193003 17 Apr 2020 Disease NYS4 MONDO C1860433 MONDO:0008654 193003 17 Apr 2020 Disease Nystagmus Human Phenotype Ontology C0028738 HP:0000639 16 Feb 2016 Finding Nystagmus 5, congenital, X-linked NCBI curation C1845116 300589 16 Feb 2016 Disease Nystagmus 6, congenital, X-linked NCBI curation C3151752 300814 16 Feb 2016 Disease Nystagmus 7, congenital, autosomal dominant NCBI curation C3553801 614826 16 Feb 2016 Disease nystagmus and other irregular eye movements C0339666 14 Mar 2019 Finding Nystagmus, congenital, autosomal recessive MONDO C3151571 MONDO:0009762 257400 22 Apr 2020 Disease Nystagmus, hereditary vertical C1834078 164150 16 Feb 2016 Disease Nystagmus, myoclonic C1839579 310800 16 Feb 2016 Disease Nystagmus, voluntary NCBI curation C0339667 164170 16 Feb 2016 Disease Nystagmus-induced head nodding Human Phenotype Ontology C4025788 HP:0001361 16 Feb 2016 Finding O Donnell Pappas syndrome 16 Feb 2016 Disease O''''DONNELL-LURIA-RODAN SYNDROME OMIM C5193138 618512 618512 27 Jul 2019 Disease O'nyong'nyong fever MONDO C0276286 MONDO:0000342 04 Jun 2020 Infectious disease O'Sullivan-McLeod syndrome MONDO C2721741 MONDO:0020559 17 Apr 2020 Disease Obesity NCBI curation C0028754 601665 16 Feb 2016 Disease OBESITY (BMIQ14), SUSCEPTIBILITY TO 16 Feb 2016 Disease OBESITY (BMIQ17), SUSCEPTIBILITY TO 16 Feb 2016 Disease Obesity due to congenital leptin resistance MONDO CN226746 MONDO:0015825 17 Apr 2020 Disease Obesity due to melanocortin 4 receptor deficiency MONDO C4273958 MONDO:0019115 17 Apr 2020 Disease Obesity due to SIM1 deficiency MONDO C5191050 MONDO:0018244 17 Apr 2020 Disease Obesity, age at onset of NCBI curation C4016925 16 Feb 2016 Disease Obesity, association with NCBI curation C4016383 16 Feb 2016 Disease Obesity, autosomal dominant CN233047 16 Feb 2016 Disease Obesity, early-onset, susceptibility to NCBI curation C4016341 28 Feb 2020 Disease Obesity, hyperphagia, and developmental delay NCBI curation C3151303 613886 16 Feb 2016 Disease Obesity, late-onset NCBI curation C4016782 16 Feb 2016 Disease Obesity, mild, early-onset NCBI curation C4016893 16 Feb 2016 Disease Obesity, modifier of NCBI curation 16 Feb 2016 Disease OBESITY, RESISTANCE TO CN258347 03 May 2019 Disease Obesity, severe, and type II diabetes NCBI curation C4016768 26 Sep 2016 Disease Obesity, variation in NCBI curation 16 Feb 2016 Disease Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome MONDO C4302879 MONDO:0019506 17 Apr 2020 Disease Obligate Human Phenotype Ontology C4477028 HP:0040280 02 Apr 2017 Finding Oblique facial cleft MONDO CN226677 MONDO:0015415 17 Apr 2020 Disease Obliteration of the calvarial diploe Human Phenotype Ontology C1860855 HP:0030312 16 Feb 2016 Finding Obliteration of the pulp chamber Human Phenotype Ontology C4025057 HP:0006350 16 Feb 2016 Finding Obsessive-compulsive behavior Human Phenotype Ontology C0600104 HP:0000722 16 Feb 2016 Finding Obsessive-compulsive disorder NCBI curation C0028768 164230 16 Feb 2016 Disease Obsessive-compulsive disorder, susceptibility to NCBI curation 16 Feb 2016 Disease Obsessive-compulsive personality disorder MONDO MONDO:0001158 17 Apr 2020 Disease Obsessive-compulsive trait Human Phenotype Ontology C1834433 HP:0008770 16 Feb 2016 Finding Obstetric (adult onset) 13 Apr 2018 Finding Obstetric (child onset) 13 Apr 2018 Finding Obstruction of the superior vena cava Human Phenotype Ontology C1336532 HP:0031041 04 Apr 2018 Finding Obstructive azoospermia Human Phenotype Ontology C4023106 HP:0011962 16 Feb 2016 Finding Obstructive deficit on pulmonary function testing Human Phenotype Ontology C4280729 HP:0030877 02 Apr 2017 Finding Obstructive jaundice MONDO C0022354 MONDO:0006874 17 Apr 2020 Disease Obstructive lung disease Human Phenotype Ontology C0600260 HP:0006536 16 Feb 2016 Finding Obstructive nephropathy MONDO C0149939 MONDO:0056796 17 Apr 2020 Disease Obstructive shock Human Phenotype Ontology C3665783 HP:0031276 04 Apr 2018 Finding Obstructive sleep apnea 27 Apr 2018 Finding Obstructive sleep apnea syndrome C0520679 107650 16 Feb 2016 Disease Obtundation status Human Phenotype Ontology C4023511 HP:0011151 16 Feb 2016 Finding Obtuse angle of mandible Human Phenotype Ontology C4038738 HP:0005446 16 Feb 2016 Finding Occasional Human Phenotype Ontology C0521114 HP:0040283 02 Apr 2017 Finding Occasional neurofibromas Human Phenotype Ontology C3810474 HP:0009595 16 Feb 2016 Finding Occipital cortical atrophy Human Phenotype Ontology C4023040 HP:0012105 16 Feb 2016 Finding Occipital encephalocele Human Phenotype Ontology C0014067 HP:0002085 16 Feb 2016 Disease Occipital hair, white lock of NCBI curation C1839578 310900 16 Feb 2016 Disease Occipital lobe neoplasm MONDO C1263889 MONDO:0004709 17 Apr 2020 Disease Occipital meningocele Human Phenotype Ontology C1848652 HP:0002436 16 Feb 2016 Finding Occipital myelomeningocele Human Phenotype Ontology C4024912 HP:0007271 16 Feb 2016 Finding Occipital neuralgia Human Phenotype Ontology C0007863 HP:0012318 16 Feb 2016 Finding occipitalization of atlus 13 May 2019 Finding Occlusion of gallbladder MONDO C0156214 MONDO:0004858 17 Apr 2020 Disease Occlusion of tributary of retinal vein MONDO MONDO:0001733 17 Apr 2020 Disease Occlusion precerebral artery MONDO C0265090 MONDO:0003718 17 Apr 2020 Disease Occult macular dystrophy NCBI curation C3150833 613587 16 Feb 2016 Disease Occult small cell lung carcinoma MONDO C1335099 MONDO:0003437 17 Apr 2020 Disease Occupation-related stress disorder MONDO C0520683 MONDO:0005467 17 Apr 2020 Disease Occupational allergic alveolitis MONDO CN229311 MONDO:0020537 17 Apr 2020 Disease Occupational asthma MONDO C0264423 MONDO:0022742 17 Apr 2020 Disease Occupational dermatitis MONDO C0028796 MONDO:0006589 17 Apr 2020 Disease Occupational lung disease MONDO C0264421 MONDO:0022736 17 Apr 2020 Disease OCD, some symptoms 23 Jan 2020 Finding Ochoa syndrome C0403555 01 Feb 2020 Disease Ochronosis disorder MONDO C0028817 MONDO:0001910 17 Apr 2020 Disease Ocular adnexal lymphoma MONDO C2981712 MONDO:0020646 17 Apr 2020 Disease Ocular albinism Human Phenotype Ontology C0078917 HP:0001107 16 Feb 2016 Finding Ocular albinism with late-onset sensorineural deafness MONDO C1845069 MONDO:0010390 300650 22 Apr 2020 Disease Ocular albinism, type I NCBI curation C0342684 300500 16 Feb 2016 Disease Ocular albinism, type II C0268505 300600 16 Feb 2016 Disease Ocular cancer MONDO MONDO:0002236 17 Apr 2020 Disease Ocular cicatricial pemphigoid C1282359 164185 16 Feb 2016 Disease Ocular coloboma, autosomal recessive NCBI curation C4011974 216820 16 Feb 2016 Disease Ocular coloboma-imperforate anus 16 Feb 2016 Disease Ocular convergence spasm 16 Feb 2016 Disease Ocular cystinosis MONDO C2931013 MONDO:0009064 219750 17 Apr 2020 Disease Ocular dominance NCBI curation C0422883 164190 16 Feb 2016 Disease Ocular dyssynergia Human Phenotype Ontology C4023680 HP:0010868 16 Feb 2016 Finding Ocular hemorrhage CN232383 16 Feb 2016 Finding Ocular hyperemia MONDO C0155169 MONDO:0001534 17 Apr 2020 Disease Ocular hypertension MONDO C0028840 MONDO:0006875 17 Apr 2020 Disease Ocular hypotension MONDO C0028841 MONDO:0004390 17 Apr 2020 Disease Ocular impairment 06 Feb 2018 Disease Ocular melanocytosis Human Phenotype Ontology C0025210 HP:0025534 04 Apr 2018 Finding Ocular melanoma C0558356 16 Feb 2016 Disease Ocular melanoma with extraocular extension MONDO C0278869 MONDO:0006326 17 Apr 2020 Disease Ocular motility disease MONDO MONDO:0001584 17 Apr 2020 Disease Ocular muscular dystrophy 16 Feb 2016 Disease Ocular myopathy with curare sensitivity NCBI curation C1850341 257600 16 Feb 2016 Disease Ocular onchocerciasis MONDO C0029002 MONDO:0005878 04 Jun 2020 Infectious disease Ocular pain Human Phenotype Ontology C0151827 HP:0200026 16 Feb 2016 Finding Ocular sebaceous carcinoma MONDO C1709308 MONDO:0006327 17 Apr 2020 Disease Ocular siderosis MONDO C0271001 MONDO:0001355 17 Apr 2020 Disease Ocular toxoplasmosis C0040561 16 Feb 2016 Infectious disease Ocular tuberculosis MONDO C0041322 MONDO:0006876 04 Jun 2020 Infectious disease Ocular vascular disease MONDO MONDO:0005552 17 Apr 2020 Disease Oculo cerebral dysplasia 16 Feb 2016 Disease Oculo cerebro acral syndrome 16 Feb 2016 Disease Oculo cerebro osseous syndrome 16 Feb 2016 Disease Oculo digital syndrome 16 Feb 2016 Disease Oculo tricho anal syndrome 16 Feb 2016 Disease Oculo tricho dysplasia 16 Feb 2016 Disease Oculo-auriculo-vertebral spectrum MONDO CN228938 MONDO:0015397 17 Apr 2020 Disease Oculo-gastrointestinal muscular dystrophy 16 Feb 2016 Disease Oculo-skeletal-renal syndrome MONDO MONDO:0017126 22 Apr 2020 Disease Oculoauricular syndrome NCBI curation C2677500 612109 16 Feb 2016 Disease Oculoauriculofrontonasal syndrome C1832352 601452 16 Feb 2016 Disease Oculoauriculovertebral spectrum with radial defects MONDO C0220681 MONDO:0007712 141400 17 Apr 2020 Disease Oculocerebral hypopigmentation syndrome of preus NCBI curation C2931646 257790 16 Feb 2016 Disease Oculocerebral hypopigmentation syndrome type Preus 16 Feb 2016 Disease Oculocerebrocutaneous syndrome C0796092 164180 16 Feb 2016 Disease Oculocerebrodental syndrome MONDO CN262992 MONDO:0034145 07 Jun 2020 Disease Oculocutaneous albinism OMIM phenotypic series C0078918 PS203100 16 Feb 2016 Disease oculocutaneous albinism optic nerve hypoplasia 05 Sep 2019 Finding Oculocutaneous albinism type 1 NCBI curation C0268494 16 Feb 2016 Disease Oculocutaneous albinism type 1, temperature sensitive NCBI curation C1847132 16 Feb 2016 Disease Oculocutaneous albinism type 1B C1847024 606952 16 Feb 2016 Disease Oculocutaneous albinism type 3 NCBI curation C0342683 203290 10 Jun 2019 Disease Oculocutaneous albinism type 4 NCBI curation C1847836 606574 16 Feb 2016 Disease Oculocutaneous Albinism Type 8 CN230079 16 Feb 2016 Disease Oculocutaneous Albinism Type 9 CN230080 16 Feb 2016 Disease OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF C1835054 16 Feb 2016 Disease Oculocutaneous or ocular albinism MONDO CN261528 MONDO:0020275 17 Apr 2020 Disease Oculodental syndrome, Rutherfurd type MONDO C0796140 MONDO:0008396 180900 17 Apr 2020 Disease Oculodentodigital dysplasia C0812437 164200 16 Feb 2016 Disease Oculodentodigital dysplasia dominant 16 Feb 2016 Disease Oculodentodigital dysplasia, autosomal recessive NCBI curation C2749477 257850 16 Feb 2016 Disease Oculodentoosseous dysplasia dominant 16 Feb 2016 Disease Oculodentoosseous dysplasia recessive 16 Feb 2016 Disease OCULOECTODERMAL SYNDROME, SOMATIC 03 Aug 2019 Disease Oculofaciocardiodental syndrome C1846265 300166 16 Feb 2016 Disease Oculoglandular tularemia MONDO C0152944 MONDO:0001665 04 Jun 2020 Infectious disease Oculogyric crisis Human Phenotype Ontology C0085637 HP:0010553 16 Feb 2016 Finding Oculomaxillofacial dysostosis C1838348 600251 16 Feb 2016 Disease Oculomotor apraxia Human Phenotype Ontology C3489733 HP:0000657 16 Feb 2016 Finding Oculomotor apraxia or related oculomotor disease MONDO CN207073 MONDO:0020258 17 Apr 2020 Disease Oculomotor nerve cancer MONDO C0686417 MONDO:0002434 17 Apr 2020 Disease Oculomotor nerve neoplasm MONDO C1263895 MONDO:0002435 17 Apr 2020 Disease Oculomotor nerve palsy Human Phenotype Ontology C0028866 HP:0012246 16 Feb 2016 Finding oculomotoric apraxia 19 Jul 2018 Finding Oculootodental syndrome NCBI curation C2750325 16 Feb 2016 Disease Oculopalatocerebral syndrome NCBI curation C1850338 257910 16 Feb 2016 Disease Oculopharyngeal muscular dystrophy C0270952 164300 16 Feb 2016 Disease OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1 OMIM C5231436 618637 618637 25 Oct 2019 Disease Oculopharyngodistal myopathy NCBI curation C5231388 164310 16 Feb 2016 Disease Oculorenocerebellar syndrome C1850331 257970 16 Feb 2016 Disease OCULOSKELETODENTAL SYNDROME OMIM C5193101 618440 618440 23 May 2019 Disease Oculotrichoanal syndrome MONDO C1855425 MONDO:0009560 248450 17 Apr 2020 Disease Oculotrichodysplasia NCBI curation C1850332 257960 16 Feb 2016 Disease Odonto onycho dysplasia with alopecia 16 Feb 2016 Disease Odonto-onycho dysplasia-alopecia syndrome MONDO CN202534 MONDO:0017134 17 Apr 2020 Disease Odonto-onycho-dermal dysplasia MONDO C0796093 MONDO:0009773 257980 17 Apr 2020 Disease Odontoclasia MONDO C0341004 MONDO:0001349 17 Apr 2020 Disease Odontogenic cyst MONDO C0028879 MONDO:0006328 17 Apr 2020 Disease Odontogenic keratocysts of the jaw Human Phenotype Ontology C1708604 HP:0010603 02 Apr 2017 Finding Odontogenic myxoma 16 Feb 2016 Disease Odontogenic neoplasm Human Phenotype Ontology C0028880 HP:0100612 16 Feb 2016 Finding Odontohypophosphatasia NCBI curation C1840322 16 Feb 2016 Disease Odontoid hypoplasia MONDO C1846439 MONDO:0013333 613628 17 Apr 2020 Disease Odontoid hypoplasia Human Phenotype Ontology C1846439 HP:0003311 613628 17 Apr 2020 Disease Odontoleukodystrophy MONDO C3502054 MONDO:0019177 17 Apr 2020 Disease Odontoma Human Phenotype Ontology C0028882 HP:0011068 16 Feb 2016 Disease Odontomatosis-aortae esophagus stenosis syndrome MONDO C1834013 MONDO:0008118 164330 17 Apr 2020 Disease Odontomicronychial dysplasia C1832473 601319 16 Feb 2016 Disease Odontotrichomelic syndrome C0406723 230740 16 Feb 2016 Disease Odontotrichoungual-digital-palmar syndrome NCBI curation C1865998 601957 16 Feb 2016 Disease Odor, male, women's choice of NCBI curation C1847745 606632 16 Feb 2016 Disease Oesophagostomiasis MONDO C0028887 MONDO:0005880 04 Jun 2020 Infectious disease Often distended abdomen 23 Jan 2020 Finding Ogilvie syndrome 16 Feb 2016 Disease ogival palate 22 Aug 2019 Finding Oguchi disease 2 NCBI curation C3150678 613411 16 Feb 2016 Disease Oguchi's disease C4551824 258100 16 Feb 2016 Disease Ohdo syndrome and variants MONDO MONDO:0000734 17 Apr 2020 Disease Ohdo syndrome, X-linked NCBI curation C3698541 300895 16 Feb 2016 Disease Oi/eds combined syndrome NCBI curation C1852924 16 Feb 2016 Disease Okamuto Satomura syndrome 16 Feb 2016 Disease Okihiro syndrome due to 20q13 microdeletion MONDO CN202208 MONDO:0016863 17 Apr 2020 Disease Okihiro syndrome due to a point mutation MONDO CN202209 MONDO:0016864 17 Apr 2020 Disease Okt4 epitope deficiency NCBI curation C3151379 613949 16 Feb 2016 Disease Okur-chung neurodevelopmental syndrome NCBI curation C4310739 617062 24 Aug 2016 Disease Olanzapine response CN077985 16 Feb 2016 Pharmacological response olanzapine response - Toxicity/ADR PharmGKB CN236611 655384971 18 May 2016 Pharmacological response Olaparib response NCBI curation CN224080 16 Feb 2016 Pharmacological response Old-aged sensorineural hearing impairment Human Phenotype Ontology C0033074 HP:0040113 16 Feb 2016 Finding Olecranon bursitis MONDO C0263962 MONDO:0001557 17 Apr 2020 Disease Olfactory auras Human Phenotype Ontology C4023504 HP:0011161 16 Feb 2016 Finding Olfactory esthesioneuroblastoma Human Phenotype Ontology C0206717 HP:0030068 16 Feb 2016 Finding Olfactory groove meningioma MONDO C1335107 MONDO:0004446 17 Apr 2020 Disease Olfactory lobe agenesis Human Phenotype Ontology C1855331 HP:0001341 16 Feb 2016 Finding Olfactory nerve disease MONDO C0751937 MONDO:0002727 17 Apr 2020 Disease Olfactory nerve neoplasm MONDO C0346319 MONDO:0002722 17 Apr 2020 Disease Oligoarthritis Human Phenotype Ontology C3892044 HP:0040313 04 Apr 2018 Finding Oligoarticular juvenile idiopathic arthritis MONDO C3898105 MONDO:0019433 17 Apr 2020 Disease Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies MONDO CN201823 MONDO:0016615 17 Apr 2020 Disease Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies MONDO CN201824 MONDO:0016616 17 Apr 2020 Disease Oligoastrocytoma NCBI curation C0280793 16 Feb 2016 Disease Oligoclonal T cell expansion Human Phenotype Ontology C4479459 HP:0031430 04 Apr 2018 Finding Oligocone trichromacy MONDO C4302876 MONDO:0019151 17 Apr 2020 Disease Oligodactyly Human Phenotype Ontology C3887496 HP:0012165 16 Feb 2016 Finding Oligodendroglioma NCBI curation C0751396 16 Feb 2016 Disease Oligodendroglioma, anaplastic C0334590 26 Jun 2019 Disease Oligodontia Human Phenotype Ontology C4082304 HP:0000677 16 Feb 2016 Finding Oligodontia of primary teeth Human Phenotype Ontology C4022997 HP:0012225 16 Feb 2016 Finding Oligodontia-colorectal cancer syndrome NCBI curation C1837750 608615 16 Feb 2016 Disease Oligohydramnios Human Phenotype Ontology C0079924 HP:0001562 16 Feb 2016 Finding Oligohydramnios (disease) MONDO MONDO:0005881 17 Apr 2020 Disease Oligomeganephronia MONDO C0431694 MONDO:0016407 17 Apr 2020 Disease Oligomeganephronic renal hypoplasia 16 Feb 2016 Disease Oligomeganephrony 16 Feb 2016 Disease Oligomenorrhea Human Phenotype Ontology C0028949 HP:0000876 16 Feb 2016 Finding Oligophernia 16 Feb 2016 Disease Oligosaccharidosis MONDO CN229180 MONDO:0019251 17 Apr 2020 Disease Oligosacchariduria Human Phenotype Ontology C4023815 HP:0010471 16 Feb 2016 Finding Oligospermia Human Phenotype Ontology C0028960 HP:0000798 16 Feb 2016 Disease Oligosynaptic infertility C0403810 258150 16 Feb 2016 Disease Oliguria Human Phenotype Ontology C0028961 HP:0100520 16 Feb 2016 Finding Olivary degeneration Human Phenotype Ontology C4024707 HP:0008303 16 Feb 2016 Finding Oliver syndrome C1850320 258200 16 Feb 2016 Disease Olivopontocerebellar atrophy deafness 16 Feb 2016 Disease Olivopontocerebellar atrophy II, autosomal recessive NCBI curation C1850319 258300 26 May 2016 Disease Olivopontocerebellar atrophy v NCBI curation C1833995 164700 16 Feb 2016 Disease Olivopontocerebellar atrophy-deafness syndrome MONDO CN202542 MONDO:0017135 17 Apr 2020 Disease Olivopontocerebellar degeneration Human Phenotype Ontology C0028968 HP:0002542 10 Apr 2018 Disease Olivopontocerebellar hypoplasia Human Phenotype Ontology C1859341 HP:0006955 16 Feb 2016 Finding Olmsted syndrome 16 Feb 2016 Disease Omeprazole response NCBI curation CN158357 NBK100895 16 Feb 2016 Pharmacological response Omodysplasia OMIM phenotypic series C4510897 PS258315 02 Dec 2016 Finding Omphalitis C0028992 10 Mar 2016 Finding Omphalocele 30 Mar 2018 Finding Omphalomesenteric cyst C0266180 16 Feb 2016 Disease Omsk hemorrhagic fever C0019103 16 Feb 2016 Infectious disease Onchocerciasis C0029001 16 Feb 2016 Infectious disease Oncocytic breast carcinoma MONDO C1518574 MONDO:0003935 17 Apr 2020 Disease Oncocytoma of kidney NCBI curation C0346255 16 Feb 2016 Disease Oncocytoma renal 16 Feb 2016 Disease Oncogene bmyc NCBI curation C1833829 165210 16 Feb 2016 Disease Oncogene Yuasa MONDO MONDO:0008126 17 Apr 2020 Disease Oncologic (adult onset) CN232468 16 Feb 2016 Finding Oncologic (child onset) CN232545 16 Feb 2016 Finding Ondansetron response NCBI curation CN417142 28 Aug 2017 Pharmacological response ondansetron response - Efficacy PharmGKB CN236569 1183632200 18 May 2016 Pharmacological response One child affected with Epilepsy, progressive myoclonic 3 due to mutation in KCDT7 gene. 13 Jul 2018 Finding One child affected with Eplipsy, progressive myoclonic 3 due to mutation in KCDT7 gene. 13 Jul 2018 Finding Onion bulb formation Human Phenotype Ontology C1847906 HP:0003383 16 Feb 2016 Finding Onychauxis Human Phenotype Ontology C0263536 HP:0012542 16 Feb 2016 Finding Onycho-patellar syndrome with eye involvement MONDO MONDO:0020274 17 Apr 2020 Disease Onychocytic matricoma MONDO C4751108 MONDO:0017586 17 Apr 2020 Disease Onychogryposis of fingernail Human Phenotype Ontology C4022477 HP:0040036 16 Feb 2016 Finding Onychogryposis of toenails Human Phenotype Ontology C4024679 HP:0008401 16 Feb 2016 Finding Onychogryposis, pedal, with keratosis plantaris and coarse hair NCBI curation C1833997 164680 16 Feb 2016 Disease Onycholysis Human Phenotype Ontology C0085661 HP:0001806 16 Feb 2016 Finding Onycholysis of distal fingernails Human Phenotype Ontology C4024680 HP:0008400 16 Feb 2016 Finding Onycholysis of fingernails Human Phenotype Ontology C3553044 HP:0040039 16 Feb 2016 Finding Onycholysis of toenails Human Phenotype Ontology C4022476 HP:0040040 16 Feb 2016 Finding Onychomadesis Human Phenotype Ontology C0263540 HP:0025088 02 Apr 2017 Finding Onychomatricoma MONDO C4751078 MONDO:0017587 17 Apr 2020 Disease Onychomycosis Human Phenotype Ontology C0040261 HP:0012203 16 Feb 2016 Finding Onychotrichodysplasia and neutropenia C1850316 258360 16 Feb 2016 Disease Oocyte arrest at metaphase I Human Phenotype Ontology C4227845 HP:0031516 04 Apr 2018 Finding Oocyte maturation defect OMIM phenotypic series CN238505 PS615774 22 Sep 2016 Disease Oocyte maturation defect 1 NCBI curation C4014291 615774 24 Aug 2016 Disease Oocyte maturation defect 2 NCBI curation C4225210 616780 16 Feb 2016 Disease OOCYTE MATURATION DEFECT 3 OMIM C4540205 617712 617712 11 Oct 2017 Disease OOCYTE MATURATION DEFECT 4 OMIM C4540284 617743 617743 26 Oct 2017 Disease OOCYTE MATURATION DEFECT 5 OMIM CN257793 617996 617996 08 Jun 2018 Disease OOCYTE MATURATION DEFECT 6 OMIM C5193047 618353 618353 10 Mar 2019 Disease OOCYTE MATURATION DEFECT 7 OMIM C5231407 618550 618550 25 Aug 2019 Disease Oophoritis Human Phenotype Ontology C0029051 HP:0031259 04 Apr 2018 Finding Opacification of the corneal epithelium Human Phenotype Ontology C1849198 HP:0007727 16 Feb 2016 Finding Opacification of the corneal stroma Human Phenotype Ontology C0423250 HP:0007759 16 Feb 2016 Finding Open bite Human Phenotype Ontology C0266061 HP:0010807 16 Feb 2016 Finding Open comedo Human Phenotype Ontology C0333128 HP:0025251 02 Apr 2017 Finding Open iniencephaly MONDO C0431285 MONDO:0017060 17 Apr 2020 Disease Open mouth Human Phenotype Ontology C0240379 HP:0000194 16 Feb 2016 Finding Open operculum Human Phenotype Ontology C2675973 HP:0100954 16 Feb 2016 Finding open, downturned mouth CN234773 16 Feb 2016 Finding Open-angle glaucoma MONDO C0017612 MONDO:0005338 22 Apr 2020 Disease Ophthalmia neonatorum MONDO C0029076 MONDO:0004854 04 Jun 2020 Infectious disease Ophthalmia nodosa MONDO C0154775 MONDO:0004861 17 Apr 2020 Disease Ophthalmic herpes zoster MONDO C0019364 MONDO:0005883 04 Jun 2020 Infectious disease Ophthalmologic (adult onset) CN232469 16 Feb 2016 Finding Ophthalmologic (child onset) CN232546 16 Feb 2016 Finding Ophthalmomandibulomelic dysplasia MONDO C1833872 MONDO:0008127 164900 22 Apr 2020 Disease Ophthalmomyiasis MONDO C0027034 MONDO:0000301 04 Jun 2020 Infectious disease Ophthalmoparesis Human Phenotype Ontology C0751401 HP:0000597 16 Feb 2016 Finding Ophthalmoplegia Human Phenotype Ontology C0029089 HP:0000602 16 Feb 2016 Finding Ophthalmoplegia totalis with ptosis and miosis NCBI curation C1850314 258400 16 Feb 2016 Disease Ophthalmoplegia, external, and myopia NCBI curation C1839577 311000 16 Feb 2016 Disease OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES OMIM C4748418 618155 618155 26 Oct 2018 Disease Ophthalmoplegia, familial static NCBI curation C1833839 165000 16 Feb 2016 Disease Ophthalmoplegia, familial total, with iris transillumination NCBI curation C1833836 165098 16 Feb 2016 Disease Ophthalmoplegia, isolated NCBI curation C4016605 16 Feb 2016 Disease Ophthalmoplegia, progressive external, and scoliosis NCBI curation 16 Feb 2016 Disease Ophthalmoplegia, progressive, with scrotal tongue and mental deficiency NCBI curation C1833835 165150 16 Feb 2016 Disease Ophthalmoplegic Muscular dystrophy 16 Feb 2016 Disease Ophthalmoplegic neuromuscular disorder with abnormal mitochondria NCBI curation C1850302 258470 16 Feb 2016 Disease Opiate dependence MONDO MONDO:0005530 17 Apr 2020 Disease Opioid abuse MONDO C0029095 MONDO:0001225 17 Apr 2020 Disease Opioid dependence 1 NCBI curation C1864733 610064 16 Feb 2016 Disease Opioid-Related Disorders PharmGKB CN236652 18 May 2016 Disease opioids response - Dosage PharmGKB CN236539 1444704833 18 May 2016 Pharmacological response opioids response - Dosage, Efficacy PharmGKB 1444704833PA452618 06 Jul 2018 Pharmacological response opioids response - Dosage, Efficacy, Metabolism/PK PharmGKB 982034197PA452618 06 Jul 2018 Pharmacological response opioids response - Metabolism/PK PharmGKB CN236604 982034197 18 May 2016 Pharmacological response Opisthorchiasis C0029106 16 Feb 2016 Infectious disease Opisthotonus Human Phenotype Ontology C0151818 HP:0002179 16 Feb 2016 Finding Opitz G/BBB syndrome NCBI curation CN263119 10 Jan 2020 Disease Opitz GBBB syndrome, type I NCBI curation C2936904 300000 10 Jan 2020 Disease Opitz GBBB syndrome, type II NCBI curation C1801950 145410 10 Jan 2020 Disease Opitz Reynolds Fitzgerald syndrome 16 Feb 2016 Disease Oppenheim reflex Human Phenotype Ontology C1532837 HP:0030180 16 Feb 2016 Finding Opportunistic bacterial infectious disease MONDO CN281929 MONDO:0000316 04 Jun 2020 Infectious disease Opportunistic infectious MONDO MONDO:0045035 17 Apr 2020 Disease Opportunistic mycosis MONDO C0029119 MONDO:0002312 04 Jun 2020 Infectious disease Opportunistic systemic mycosis MONDO CN281902 MONDO:0045033 04 Jun 2020 Infectious disease Opposable triphalangeal thumb Human Phenotype Ontology C4025122 HP:0005866 16 Feb 2016 Finding Oppositional defiance disorder CN244034 01 Jun 2017 Finding Oppositional defiant disorder Human Phenotype Ontology C0029121 HP:0010865 16 Feb 2016 Finding Oppositional defiant disorder (disease) MONDO MONDO:0000495 17 Apr 2020 Disease Opremazole, poor metabolism of NCBI curation 16 Feb 2016 Disease Opsismodysplasia C0432219 258480 16 Feb 2016 Disease Opsoclonus Human Phenotype Ontology C0242567 HP:0010543 16 Feb 2016 Finding Opsoclonus-myoclonus syndrome MONDO C0393626 MONDO:0015247 07 Jun 2020 Disease Opthalmic icthyosis 16 Feb 2016 Disease Opthalmo acromelic syndrome 16 Feb 2016 Disease Opthalmomandibulomelic dysplasia 16 Feb 2016 Disease Opthalmoplegia mental retardation lingua scrotalis 16 Feb 2016 Disease Opthalmoplegia myalgia tubular aggregates 16 Feb 2016 Disease Opthalmoplegia progressive external scoliosis 16 Feb 2016 Disease optic and cerebellar atrophy 15 Aug 2019 Finding Optic atrophy Human Phenotype Ontology C0029124 HP:0000648 16 Feb 2016 Disease Optic atrophy OMIM phenotypic series C0029124 PS165500 16 Feb 2016 Disease Optic atrophy 1 and deafness 16 Feb 2016 Disease Optic atrophy 10 with or without ataxia, mental retardation, and seizures NCBI curation C4225227 616732 24 Aug 2016 Disease Optic atrophy 11 NCBI curation C4310628 617302 20 Jun 2017 Disease Optic atrophy 2 C1839576 311050 16 Feb 2016 Disease Optic atrophy 3 MONDO C1833809 MONDO:0008133 165300 21 Jun 2020 Disease Optic atrophy 4 NCBI curation C1854430 605293 16 Feb 2016 Disease Optic atrophy 5 NCBI curation C1853139 610708 10 Jun 2020 Disease Optic atrophy 6 C1850281 258500 16 Feb 2016 Disease Optic atrophy 7 NCBI curation C2751812 612989 16 Feb 2016 Disease Optic atrophy 8 NCBI curation C4085249 616648 16 Feb 2016 Disease Optic atrophy 9 NCBI curation C4225384 616289 16 Feb 2016 Disease Optic atrophy from cranial nerve compression Human Phenotype Ontology C4024763 HP:0007958 16 Feb 2016 Finding Optic atrophy opthalmoplegia ptosis deafness myopia 16 Feb 2016 Disease Optic Atrophy Type 11 CN230145 16 Feb 2016 Disease Optic Atrophy Type 12 CN230146 16 Feb 2016 Disease Optic atrophy with demyelinating disease of CNS NCBI curation C1833830 165200 16 Feb 2016 Disease Optic atrophy with negative electroretinograms NCBI curation C1833799 165510 16 Feb 2016 Disease Optic Atrophy, Dominant CN239213 02 Dec 2016 Disease Optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant C1833831 165199 16 Feb 2016 Disease Optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive MONDO C1850270 MONDO:0009788 258650 17 Apr 2020 Disease Optic Atrophy, Recessive CN239221 02 Dec 2016 Disease Optic atrophy--spastic paraplegia syndrome NCBI curation C1839565 311100 16 Feb 2016 Disease Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome MONDO CN262963 MONDO:0034092 17 Apr 2020 Disease Optic disc drusen Human Phenotype Ontology C0029128 HP:0012426 16 Feb 2016 Finding Optic disc hypoplasia Human Phenotype Ontology C1298695 HP:0007766 16 Feb 2016 Finding Optic disc pallor Human Phenotype Ontology C0554970 HP:0000543 16 Feb 2016 Finding Optic nerve aplasia Human Phenotype Ontology C4021084 HP:0012521 16 Feb 2016 Finding Optic nerve aplasia, bilateral NCBI curation C1833798 16 Feb 2016 Disease Optic nerve arteriovenous malformation Human Phenotype Ontology C4531243 HP:0031256 04 Apr 2018 Finding Optic nerve astrocytoma MONDO C1335114 MONDO:0003234 17 Apr 2020 Disease Optic nerve compression Human Phenotype Ontology C0271344 HP:0007807 16 Feb 2016 Finding Optic nerve disorder 16 Feb 2016 Disease Optic nerve dysplasia Human Phenotype Ontology C2676026 HP:0001093 16 Feb 2016 Finding optic nerve edema 22 Feb 2019 Finding Optic nerve glioma Human Phenotype Ontology C0346326 HP:0009734 04 Apr 2018 Finding Optic nerve hypoplasia Human Phenotype Ontology C0338502 HP:0000609 16 Feb 2016 Disease Optic nerve hypoplasia and abnormalities of the central nervous system NCBI curation C1859774 16 Feb 2016 Disease Optic nerve hypoplasia, bilateral NCBI curation C1833797 165550 16 Feb 2016 Disease Optic nerve hypoplasia, familial bilateral 16 Feb 2016 Disease Optic nerve misrouting Human Phenotype Ontology C4531296 HP:0025551 04 Apr 2018 Finding Optic nerve neoplasm MONDO C0524802 MONDO:0002640 17 Apr 2020 Disease Optic nerve sheath meningioma MONDO C0346328 MONDO:0003557 17 Apr 2020 Disease Optic neuritis Human Phenotype Ontology C0029134 HP:0100653 16 Feb 2016 Disease Optic neuropathy Human Phenotype Ontology C3887709 HP:0001138 16 Feb 2016 Finding Optic neuropathy, anterior ischemic 16 Feb 2016 Disease Optic papillitis MONDO MONDO:0006879 17 Apr 2020 Disease Optic pathway glioma C0796418 16 Feb 2016 Disease optic pit CN226012 16 Feb 2016 Finding Optic tract astrocytoma MONDO C1336971 MONDO:0024649 17 Apr 2020 Disease Optic tract meningioma MONDO C1336972 MONDO:0024648 17 Apr 2020 Disease Optically empty vitreous Human Phenotype Ontology C4073118 HP:0030663 02 Apr 2017 Finding Opticoacoustic nerve atrophy dementia 16 Feb 2016 Disease Opticocochleodentate degeneration C0520711 258700 16 Feb 2016 Disease OPTN-Related Disorders 23 May 2019 Disease oral apraxia C0454608 18 Jan 2019 Finding Oral aversion Human Phenotype Ontology C3665983 HP:0012523 16 Feb 2016 Finding Oral bleeding Human Phenotype Ontology C0029163 HP:0040184 16 Feb 2016 Finding Oral cancer 16 Feb 2016 Disease Oral candidiasis MONDO C0006849 MONDO:0005886 04 Jun 2020 Infectious disease Oral cavity bleeding Human Phenotype Ontology C4022608 HP:0030140 16 Feb 2016 Finding Oral cavity cancer MONDO MONDO:0005515 17 Apr 2020 Disease Oral cavity carcinoma MONDO C0151546 MONDO:0044925 17 Apr 2020 Disease Oral cavity carcinoma in situ MONDO C0347073 MONDO:0000371 17 Apr 2020 Disease Oral cavity mucoepidermoid carcinoma MONDO C0280309 MONDO:0044964 17 Apr 2020 Disease Oral cavity telangiectasia Human Phenotype Ontology C4025877 HP:0000228 02 Apr 2017 Finding Oral cleft Human Phenotype Ontology C4021813 HP:0000202 16 Feb 2016 Finding Oral Crohn disease MONDO C0399497 MONDO:0005535 17 Apr 2020 Disease oral dyspraxia 05 Sep 2019 Finding Oral erosive lichen MONDO CN203692 MONDO:0017772 17 Apr 2020 Disease Oral erythroplakia Human Phenotype Ontology C0267008 HP:0030934 02 Apr 2017 Finding Oral hairy leukoplakia Human Phenotype Ontology C0206186 HP:0025126 02 Apr 2017 Finding Oral herpes Human Phenotype Ontology C1274321 HP:0410028 04 Apr 2018 Finding Oral leukoedema MONDO C0023523 MONDO:0006880 17 Apr 2020 Disease Oral lichen planus C0206139 16 Feb 2016 Disease Oral lichenoid lesion Human Phenotype Ontology C4531106 HP:0031453 04 Apr 2018 Finding oral motor dysfunction 05 Sep 2019 Finding Oral motor hypotonia Human Phenotype Ontology C4022592 HP:0030190 16 Feb 2016 Finding Oral mucosa leukoplakia MONDO C0023532 MONDO:0004844 17 Apr 2020 Disease Oral mucosa nodule Human Phenotype Ontology C4531113 HP:0031445 04 Apr 2018 Finding Oral mucosal blisters Human Phenotype Ontology C0853945 HP:0200097 16 Feb 2016 Finding Oral papilloma C1262299 01 Jun 2017 Finding Oral pharyngeal disorders 16 Feb 2016 Disease oral phase dysphagia C2315800 18 Jan 2019 Finding Oral sensibility, disturbance of MONDO C1850269 MONDO:0009791 258800 22 Apr 2020 Disease Oral squamous cell carcinoma 16 Feb 2016 Disease Oral submucous fibrosis C0029172 16 Feb 2016 Disease Oral synechia Human Phenotype Ontology C4023921 HP:0010285 16 Feb 2016 Finding Oral tuberculosis MONDO C0041323 MONDO:0005887 04 Jun 2020 Infectious disease Oral ulcer Human Phenotype Ontology C0149745 HP:0000155 16 Feb 2016 Finding Oral-facial cleft 16 Feb 2016 Disease Oral-pharyngeal dysphagia Human Phenotype Ontology C0267071 HP:0200136 16 Feb 2016 Finding Orange allery MONDO MONDO:0000783 17 Apr 2020 Disease Orange discoloured tonsils Human Phenotype Ontology C4280753 HP:0030814 02 Apr 2017 Finding Orbit alveolar rhabdomyosarcoma MONDO C1335126 MONDO:0002978 17 Apr 2020 Disease Orbit embryonal rhabdomyosarcoma MONDO C1335127 MONDO:0002579 17 Apr 2020 Disease Orbit lymphoma MONDO C0271333 MONDO:0004942 17 Apr 2020 Disease Orbit neoplasm MONDO C0029185 MONDO:0024611 17 Apr 2020 Disease Orbit rhabdomyosarcoma MONDO C0346347 MONDO:0002580 17 Apr 2020 Disease Orbit sarcoma MONDO C1335131 MONDO:0004943 17 Apr 2020 Disease Orbital cancer MONDO MONDO:0002889 17 Apr 2020 Disease Orbital cellulitis MONDO C0149507 MONDO:0006881 04 Jun 2020 Infectious disease Orbital cleft Human Phenotype Ontology C1857580 HP:0031574 04 Apr 2018 Finding Orbital craniosynostosis Human Phenotype Ontology C4025192 HP:0005472 16 Feb 2016 Finding Orbital cyst Human Phenotype Ontology C0155285 HP:0001144 16 Feb 2016 Finding Orbital encephalocele Human Phenotype Ontology C0271330 HP:0007115 16 Feb 2016 Finding Orbital granuloma MONDO C0155262 MONDO:0001048 17 Apr 2020 Disease Orbital leiomyoma MONDO C4305000 MONDO:0018885 17 Apr 2020 Disease Orbital lymphangioma 16 Feb 2016 Disease Orbital lymphoma 16 Feb 2016 Disease Orbital margin, hypoplasia of NCBI curation C1833795 165600 16 Feb 2016 Disease Orbital melanoma 16 Feb 2016 Disease Orbital osteomyelitis MONDO C0155258 MONDO:0001232 17 Apr 2020 Disease Orbital periostitis MONDO C0155257 MONDO:0001231 17 Apr 2020 Disease Orbital plasma cell granuloma MONDO MONDO:0004769 17 Apr 2020 Disease Orbital tenonitis MONDO C0155259 MONDO:0001233 17 Apr 2020 Disease Orchitis Human Phenotype Ontology C0029191 HP:0100796 16 Feb 2016 Finding Organ Transplantation PharmGKB CN236669 18 May 2016 Disease Organ Transplantation;Transplantation PharmGKB 17 Feb 2017 Disease Organic aciduria Human Phenotype Ontology C0241775 HP:0001992 16 Feb 2016 Finding Organic brain syndrome 16 Feb 2016 Disease Organic mood syndrome 16 Feb 2016 Disease Organic personality syndrome 16 Feb 2016 Disease organomegaly C4054315 13 Feb 2020 Finding Organophosphate poisoning, susceptibility to NCBI curation 16 Feb 2016 Disease Orgasm disorder MONDO C0029261 MONDO:0040674 17 Apr 2020 Disease Orgasm-induced seizures MONDO CN200056 MONDO:0015646 17 Apr 2020 Disease Ornithine aminotransferase deficiency NCBI curation C0599035 258870 16 Feb 2016 Disease Ornithine carbamoyltransferase deficiency NCBI curation C0268542 311250 16 Feb 2016 Disease ORNITHINE TRANSCARBAMYLASE POLYMORPHISM 16 Feb 2016 Disease Ornithinuria Human Phenotype Ontology C4025602 HP:0003532 16 Feb 2016 Finding Oro acral syndrome 16 Feb 2016 Disease Oroacral syndrome, verloes-koulischer type NCBI curation C1863879 603446 16 Feb 2016 Disease Orofacial action-specific dystonia induced by speech Human Phenotype Ontology C4476906 HP:0031007 04 Apr 2018 Finding Orofacial cleft OMIM phenotypic series C3266076 PS119530 16 Feb 2016 Disease Orofacial cleft 1 NCBI curation C1861537 119530 16 Feb 2016 Disease Orofacial cleft 10 NCBI curation C1866070 613705 16 Feb 2016 Disease Orofacial cleft 11 NCBI curation C2677434 600625 16 Feb 2016 Disease Orofacial cleft 12 NCBI curation C2748505 612858 16 Feb 2016 Disease Orofacial cleft 13 NCBI curation C3151222 613857 16 Feb 2016 Disease Orofacial cleft 14 NCBI curation C4014596 615892 16 Feb 2016 Disease Orofacial cleft 15 NCBI curation C4225209 616788 16 Feb 2016 Disease Orofacial cleft 2 NCBI curation C1864323 602966 16 Feb 2016 Disease Orofacial cleft 3 NCBI curation C1833369 600757 16 Feb 2016 Disease Orofacial cleft 4 NCBI curation C1842143 608371 16 Feb 2016 Disease Orofacial cleft 5 NCBI curation C1837210 608874 16 Feb 2016 Disease Orofacial cleft 6, susceptibility to NCBI curation C1837213 608864 16 Feb 2016 Disease Orofacial cleft 7 NCBI curation C1833538 13 Aug 2017 Disease Orofacial cleft 8 NCBI curation C1851878 618149 16 Feb 2016 Disease Orofacial cleft 9 NCBI curation C1835894 610361 16 Feb 2016 Disease Orofacial clefting syndrome MONDO CN199365 MONDO:0015335 17 Apr 2020 Disease Orofacial dyskinesia Human Phenotype Ontology C0152115 HP:0002310 16 Feb 2016 Finding Orofacial-digital syndrome III NCBI curation C0406726 258850 16 Feb 2016 Disease Orofacial-digital syndrome IV C0406727 258860 16 Feb 2016 Disease Orofaciodigital syndrome OMIM phenotypic series C0029294 PS311200 17 Apr 2020 Disease Orofaciodigital syndrome MONDO C0029294 MONDO:0015375 17 Apr 2020 Disease Orofaciodigital syndrome 16 MONDO C4539729 MONDO:0033045 617563 17 Apr 2020 Disease Orofaciodigital syndrome 17 MONDO C4693640 MONDO:0033375 617926 17 Apr 2020 Disease Orofaciodigital syndrome 18 MONDO C4693651 MONDO:0054770 617927 17 Apr 2020 Disease Orofaciodigital syndrome I NCBI curation C1510460 311200 26 Dec 2019 Disease Orofaciodigital syndrome IX MONDO C0796102 MONDO:0009795 258865 17 Apr 2020 Disease Orofaciodigital syndrome type 12 MONDO C2932679 MONDO:0015421 22 Apr 2020 Disease Orofaciodigital syndrome type 13 MONDO C2932680 MONDO:0015422 22 Apr 2020 Disease Orofaciodigital syndrome type 6 MONDO C2745997 MONDO:0010176 277170 22 Apr 2020 Disease Orofaciodigital syndrome V MONDO C1868118 MONDO:0008267 174300 17 Apr 2020 Disease Orofaciodigital syndrome VII NCBI curation C0796100 608518 24 Aug 2016 Disease Orofaciodigital syndrome VIII MONDO C0796101 MONDO:0010336 300484 22 Apr 2020 Disease Orofaciodigital syndrome X MONDO C1833796 MONDO:0008137 165590 17 Apr 2020 Disease Orofaciodigital syndrome XI MONDO C2752048 MONDO:0013035 612913 17 Apr 2020 Disease Orofaciodigital syndrome xiv NCBI curation C4014780 615948 16 Feb 2016 Disease Orofaciodigital syndrome XV NCBI curation C4310701 617127 20 Jun 2017 Disease Oromandibular dystonia Human Phenotype Ontology C2242577 HP:0012048 16 Feb 2016 Finding Oromandibular-limb anomalies syndrome MONDO CN199634 MONDO:0015498 17 Apr 2020 Disease Oromandibular-limb hypogenesis spectrum C0221060 157900 16 Feb 2016 Disease Oromandibular-limb hypogenesis syndrome MONDO CN202556 MONDO:0017139 17 Apr 2020 Disease Oromotor apraxia Human Phenotype Ontology C4021845 HP:0007301 16 Feb 2016 Finding Oropharyngeal anthrax MONDO CN281910 MONDO:0000236 04 Jun 2020 Infectious disease Oropharyngeal cancer, adult 16 Feb 2016 Disease Oropharyngeal cancer, childhood 16 Feb 2016 Disease Oropharyngeal carcinoma MONDO C2349952 MONDO:0044926 17 Apr 2020 Disease Oropharyngeal squamous cell carcinoma Human Phenotype Ontology C0280313 HP:0012182 16 Feb 2016 Finding Oropharyngeal squamous papilloma Human Phenotype Ontology C1335141 HP:0031022 04 Apr 2018 Finding Oropharynx cancer MONDO MONDO:0004608 17 Apr 2020 Disease Oropouche fever MONDO C0276386 MONDO:0000345 04 Jun 2020 Infectious disease OROSOMUCOID POLYMORPHISM 16 Feb 2016 Disease Orotic acid crystalluria Human Phenotype Ontology C3278626 HP:0003526 16 Feb 2016 Finding Orotic aciduria Human Phenotype Ontology C0268128 HP:0003218 258900 10 Apr 2018 Disease Orotic aciduria type 1 16 Feb 2016 Disease Orotic aciduria without megaloblastic anemia NCBI curation 16 Feb 2016 Disease Oroya fever MONDO C0029307 MONDO:0018984 04 Jun 2020 Infectious disease Orthocoronavirinae infectious disease MONDO CN281668 MONDO:0020753 04 Jun 2020 Infectious disease Orthokeratosis Human Phenotype Ontology C1843359 HP:0040162 16 Feb 2016 Finding Orthokeratotic hyperkeratosis Human Phenotype Ontology C3670629 HP:0025080 02 Apr 2017 Finding Orthomyxoviridae infectious disease MONDO CN281793 MONDO:0005889 04 Jun 2020 Infectious disease Orthopnea Human Phenotype Ontology C0085619 HP:0012764 16 Feb 2016 Finding Orthostatic hypotension Human Phenotype Ontology C0020651 HP:0001278 16 Feb 2016 Finding Orthostatic hypotension OMIM phenotypic series C0020651 PS223360 16 Feb 2016 Finding Orthostatic hypotension (disease) MONDO MONDO:0005469 17 Apr 2020 Disease Orthostatic hypotension 1 NCBI curation C4746777 223360 05 Dec 2019 Disease ORTHOSTATIC HYPOTENSION 2 OMIM C4748569 618182 618182 16 Nov 2018 Disease Orthostatic hypotension due to autonomic dysfunction Human Phenotype Ontology C1868528 HP:0004926 16 Feb 2016 Finding Orthostatic hypotensive disorder, streeten type NCBI curation C1840438 143850 16 Feb 2016 Disease Orthostatic intolerance NCBI curation C1535893 604715 06 Nov 2017 Disease Orthostatic proteinuria MONDO C0232867 MONDO:0004838 17 Apr 2020 Disease Orthostatic syncope Human Phenotype Ontology C0749201 HP:0012670 16 Feb 2016 Finding Orthostatic tachycardia Human Phenotype Ontology C4021099 HP:0012173 16 Feb 2016 Finding Orthotopic os odontoideum Human Phenotype Ontology C4476740 HP:0025375 04 Apr 2018 Finding ortostatic tremor 15 Nov 2019 Finding Os odontoideum Human Phenotype Ontology C2919848 HP:0005667 16 Feb 2016 Finding Osebold skeletal dysplasia/osteolysis syndrome NCBI curation C1863922 603389 16 Feb 2016 Disease Oslam syndrome C1833792 165660 16 Feb 2016 Disease Osmotic diarrheal disease MONDO C0267556 MONDO:0000250 17 Apr 2020 Disease Osseous atresia of the external auditory canal Human Phenotype Ontology C4022439 HP:0040102 16 Feb 2016 Finding Osseous finger syndactyly Human Phenotype Ontology C0158736 HP:0010492 16 Feb 2016 Finding Osseous stenosis of the external auditory canal Human Phenotype Ontology C4022437 HP:0040104 16 Feb 2016 Finding Osseous syndactyly of toes Human Phenotype Ontology C0158738 HP:0010717 16 Feb 2016 Finding Ossicular Malformations, familial C1833790 165680 16 Feb 2016 Disease Ossification anomalies-psychomotor developmental delay syndrome MONDO CN227577 MONDO:0019131 17 Apr 2020 Disease Ossification of the posterior longitudinal ligament of the spine C1865343 602475 16 Feb 2016 Disease Ossified ear cartilages NCBI curation C1833791 165670 16 Feb 2016 Disease Ossifying fibroma Human Phenotype Ontology C0206640 HP:0030426 16 Feb 2016 Finding Ossifying fibroma of the jaw Human Phenotype Ontology C4072940 HP:0030427 16 Feb 2016 Finding Ossifying fibromyxoid tumor MONDO C1266128 MONDO:0006330 17 Apr 2020 Disease Osteitis fibrosa MONDO C0029405 MONDO:0005890 17 Apr 2020 Disease Osteoarthritis Human Phenotype Ontology C3887876 HP:0002758 165720 04 Apr 2018 Disease Osteoarthritis of distal interphalangeal joint C3887526 140600 16 Feb 2016 Disease Osteoarthritis of hip Human Phenotype Ontology C0029410 HP:0008843 612400 10 Apr 2018 Disease Osteoarthritis of knee C0409959 612401 16 Feb 2016 Disease Osteoarthritis of the elbow Human Phenotype Ontology C0409954 HP:0003940 16 Feb 2016 Finding Osteoarthritis of the first carpometacarpal joint Human Phenotype Ontology C0409956 HP:0006226 16 Feb 2016 Finding Osteoarthritis of the small joints of the hand Human Phenotype Ontology C4025381 HP:0004268 16 Feb 2016 Finding Osteoarthritis susceptibility 3 NCBI curation C2675609 607850 16 Feb 2016 Disease Osteoarthritis susceptibility 4 NCBI curation C1835815 610839 16 Feb 2016 Disease Osteoarthritis with mild chondrodysplasia NCBI curation C1858079 604864 16 Feb 2016 Disease Osteoarthritis, spine MONDO MONDO:0006630 17 Apr 2020 Disease Osteoarthritis, toe MONDO MONDO:0006631 17 Apr 2020 Disease Osteoblastic Osteosarcoma C1704328 15 Mar 2019 Disease Osteoblastoma Human Phenotype Ontology C0029417 HP:0011846 16 Feb 2016 Finding osteochondrial dysplasia CN238736 19 Oct 2016 Finding Osteochondritis deformans juvenile 16 Feb 2016 Disease Osteochondritis dissecans C3665488 165800 16 Feb 2016 Disease Osteochondritis of tarsal/metatarsal bone MONDO C0158444 MONDO:0016086 17 Apr 2020 Disease Osteochondrodysplasia NCBI curation C0029422 16 Feb 2016 Disease Osteochondrodysplasia thrombocytopenia hydrocephalus 16 Feb 2016 Disease OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS OMIM C4748496 618167 618167 01 Nov 2018 Disease Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type NCBI curation C4225162 616897 15 Apr 2018 Disease Osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension NCBI curation C1833688 166990 16 Feb 2016 Disease Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome MONDO C4302825 MONDO:0017041 17 Apr 2020 Disease Osteochondroma Human Phenotype Ontology C0029423 HP:0030431 16 Feb 2016 Disease Osteochondrosis Human Phenotype Ontology C0029429 HP:0040188 16 Feb 2016 Finding Osteochondrosis of genetic origin MONDO CN229163 MONDO:0018385 17 Apr 2020 Disease Osteoclastic giant cell tumor of pancreas MONDO CN237530 MONDO:0018527 17 Apr 2020 Disease Osteocraniostenosis MONDO C1865639 MONDO:0011215 602361 17 Apr 2020 Disease Osteodysplasia, familial, Anderson type NCBI curation C1850186 259250 16 Feb 2016 Disease Osteodysplastic dwarfism Corsello type 16 Feb 2016 Disease Osteodysplastic primordial dwarfism, type 1 C1859452 210710 16 Feb 2016 Disease Osteodysplasty, precocious, of Danks, Mayne, and Kozlowski MONDO C1850185 MONDO:0009802 259270 22 Apr 2020 Disease Osteoectasia familial 16 Feb 2016 Disease Osteofibrous dysplasia NCBI curation C4085248 607278 16 Feb 2016 Disease Osteogenesis imperfecta OMIM phenotypic series C0029434 PS166200 16 Feb 2016 Disease Osteogenesis imperfecta type 1, mild NCBI curation C4015950 16 Feb 2016 Disease Osteogenesis imperfecta type 10 NCBI curation C3151211 613848 16 Feb 2016 Disease Osteogenesis imperfecta type 12 NCBI curation C3151433 613849 28 Sep 2016 Disease Osteogenesis imperfecta type 2, thin-bone NCBI curation CN071440 16 Feb 2016 Disease Osteogenesis imperfecta type 5 C2931093 610967 16 Feb 2016 Disease Osteogenesis imperfecta type 7 C1853162 610682 16 Feb 2016 Disease Osteogenesis imperfecta type 8 C1970458 610915 16 Feb 2016 Disease Osteogenesis imperfecta type 9 C1850169 259440 16 Feb 2016 Disease Osteogenesis imperfecta type I C0023931 166200 16 Feb 2016 Disease Osteogenesis imperfecta type III C0268362 259420 16 Feb 2016 Disease Osteogenesis imperfecta with normal sclerae, dominant form C0268363 166220 16 Feb 2016 Disease Osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures NCBI curation C1833748 166230 16 Feb 2016 Disease Osteogenesis imperfecta, atypical, with joint hypermobility NCBI curation 16 Feb 2016 Disease Osteogenesis imperfecta, CREB3L1 related CN231481 16 Feb 2016 Disease Osteogenesis Imperfecta, Dominant CN239427 02 Dec 2016 Disease Osteogenesis imperfecta, mild NCBI curation C4015953 16 Feb 2016 Disease Osteogenesis Imperfecta, Recessive CN239451 02 Dec 2016 Disease Osteogenesis imperfecta, recessive perinatal lethal C0268358 166210 16 Feb 2016 Disease Osteogenesis imperfecta, type 18 MONDO C4693736 MONDO:0044329 617952 17 Apr 2020 Disease Osteogenesis imperfecta, type 19 MONDO C4746956 MONDO:0049223 301014 17 Apr 2020 Disease Osteogenesis imperfecta, type 20 MONDO C5231439 MONDO:0032846 618644 27 May 2020 Disease OSTEOGENESIS IMPERFECTA, TYPE IIC C4015949 16 Feb 2016 Disease Osteogenesis imperfecta, type III/IV NCBI curation C4015948 01 Dec 2018 Disease Osteogenesis imperfecta, type VI NCBI curation C3279564 613982 28 Sep 2016 Disease Osteogenesis imperfecta, type XI NCBI curation C3151218 610968 28 Sep 2016 Disease Osteogenesis imperfecta, type xiii NCBI curation C3553887 614856 24 Aug 2016 Disease Osteogenesis imperfecta, type xiv NCBI curation C3554428 615066 24 Aug 2016 Disease Osteogenesis imperfecta, type xv NCBI curation C3808844 615220 24 Aug 2016 Disease Osteogenesis imperfecta, type xvi NCBI curation C4015610 616229 24 Aug 2016 Disease Osteogenesis imperfecta, type xvii NCBI curation C4225301 616507 24 Aug 2016 Disease Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome MONDO C4302824 MONDO:0017196 17 Apr 2020 Disease Osteogenesis imperfecta/Ehlers-Danlos crossover syndrome NCBI curation 16 Feb 2016 Disease Osteogenic neoplasm MONDO C1335146 MONDO:0045053 17 Apr 2020 Disease Osteoglophonic dysplasia C0432283 166250 16 Feb 2016 Disease Osteoid osteoma Human Phenotype Ontology C0029441 HP:0030433 259550 16 Feb 2016 Disease Osteolysis Human Phenotype Ontology C4721411 HP:0002797 16 Feb 2016 Finding Osteolysis involving bones of the feet Human Phenotype Ontology C4024579 HP:0009134 16 Feb 2016 Finding Osteolysis involving bones of the lower limbs Human Phenotype Ontology C4024576 HP:0009139 16 Feb 2016 Finding Osteolysis involving bones of the upper limbs Human Phenotype Ontology C4073167 HP:0045039 16 Feb 2016 Finding Osteolysis involving tarsal bones Human Phenotype Ontology C1833735 HP:0006234 16 Feb 2016 Finding Osteolysis of patellae Human Phenotype Ontology C4025051 HP:0006378 16 Feb 2016 Finding Osteolysis of scaphoids Human Phenotype Ontology C4025082 HP:0006202 16 Feb 2016 Finding Osteolysis of talus Human Phenotype Ontology C4021556 HP:0008095 16 Feb 2016 Finding Osteolytic defect of the distal phalanx of the thumb Human Phenotype Ontology C4021417 HP:0009645 16 Feb 2016 Finding Osteolytic defect of the proximal phalanx of the thumb Human Phenotype Ontology C4021420 HP:0009633 16 Feb 2016 Finding Osteolytic defect of the proximal toe phalanx Human Phenotype Ontology C4021314 HP:0010207 16 Feb 2016 Finding Osteolytic defect of thumb phalanx Human Phenotype Ontology C4020905 HP:0009654 16 Feb 2016 Finding Osteolytic defects of the 1st metacarpal Human Phenotype Ontology C4024094 HP:0010030 16 Feb 2016 Finding Osteolytic defects of the 1st metatarsal Human Phenotype Ontology C4024073 HP:0010071 16 Feb 2016 Finding Osteolytic defects of the distal phalanges of the hand Human Phenotype Ontology C1849547 HP:0009839 16 Feb 2016 Finding Osteolytic defects of the distal phalanges of the toes Human Phenotype Ontology C4023979 HP:0010189 16 Feb 2016 Finding Osteolytic defects of the distal phalanx of the 2nd finger Human Phenotype Ontology C4021441 HP:0009561 16 Feb 2016 Finding Osteolytic defects of the distal phalanx of the 2nd toe Human Phenotype Ontology C4023839 HP:0010417 16 Feb 2016 Finding Osteolytic defects of the distal phalanx of the 3rd finger Human Phenotype Ontology C4021478 HP:0009424 16 Feb 2016 Finding Osteolytic defects of the distal phalanx of the 3rd toe Human Phenotype Ontology C4022069 HP:0100458 16 Feb 2016 Finding Osteolytic defects of the distal phalanx of the 4th finger Human Phenotype Ontology C4024457 HP:0009303 16 Feb 2016 Finding Osteolytic defects of the distal phalanx of the 4th toe Human Phenotype Ontology C4022068 HP:0100459 16 Feb 2016 Finding Osteolytic defects of the distal phalanx of the 5th finger Human Phenotype Ontology C4024504 HP:0009242 16 Feb 2016 Finding Osteolytic defects of the distal phalanx of the 5th toe Human Phenotype Ontology C4022067 HP:0100460 16 Feb 2016 Finding Osteolytic defects of the distal phalanx of the hallux Human Phenotype Ontology C4024065 HP:0010080 16 Feb 2016 Finding Osteolytic defects of the hand bones Human Phenotype Ontology C4021400 HP:0009699 16 Feb 2016 Finding Osteolytic defects of the middle phalanges of the hand Human Phenotype Ontology C4024185 HP:0009847 16 Feb 2016 Finding Osteolytic defects of the middle phalanges of the toes Human Phenotype Ontology C4023974 HP:0010198 16 Feb 2016 Finding Osteolytic defects of the middle phalanx of the 2nd finger Human Phenotype Ontology C4021437 HP:0009572 16 Feb 2016 Finding Osteolytic defects of the middle phalanx of the 2nd toe Human Phenotype Ontology C4023847 HP:0010408 16 Feb 2016 Finding Osteolytic defects of the middle phalanx of the 3rd finger Human Phenotype Ontology C4024365 HP:0009433 16 Feb 2016 Finding Osteolytic defects of the middle phalanx of the 3rd toe Human Phenotype Ontology C4022075 HP:0100452 16 Feb 2016 Finding Osteolytic defects of the middle phalanx of the 4th finger Human Phenotype Ontology C4024461 HP:0009297 16 Feb 2016 Finding Osteolytic defects of the middle phalanx of the 4th toe Human Phenotype Ontology C4022074 HP:0100453 16 Feb 2016 Finding Osteolytic defects of the middle phalanx of the 5th finger Human Phenotype Ontology C4024559 HP:0009170 16 Feb 2016 Finding Osteolytic defects of the middle phalanx of the 5th toe Human Phenotype Ontology C4022073 HP:0100454 16 Feb 2016 Finding Osteolytic defects of the phalanges of the 2nd finger Human Phenotype Ontology C4021443 HP:0009550 16 Feb 2016 Finding Osteolytic defects of the phalanges of the 2nd toe Human Phenotype Ontology C4023888 HP:0010351 16 Feb 2016 Finding Osteolytic defects of the phalanges of the 3rd finger Human Phenotype Ontology C4021472 HP:0009443 16 Feb 2016 Finding Osteolytic defects of the phalanges of the 3rd toe Human Phenotype Ontology C4021825 HP:0010363 16 Feb 2016 Finding Osteolytic defects of the phalanges of the 4th finger Human Phenotype Ontology C4025409 HP:0004195 16 Feb 2016 Finding Osteolytic defects of the phalanges of the 4th toe Human Phenotype Ontology C4023873 HP:0010375 16 Feb 2016 Finding Osteolytic defects of the phalanges of the 5th finger Human Phenotype Ontology C4021677 HP:0004216 16 Feb 2016 Finding Osteolytic defects of the phalanges of the 5th toe Human Phenotype Ontology C4023865 HP:0010387 16 Feb 2016 Finding Osteolytic defects of the phalanges of the hallux Human Phenotype Ontology C4024078 HP:0010062 16 Feb 2016 Finding Osteolytic defects of the phalanges of the toes Human Phenotype Ontology C4023985 HP:0010177 16 Feb 2016 Finding Osteolytic defects of the proximal phalanges of the hand Human Phenotype Ontology C1850148 HP:0009855 16 Feb 2016 Finding Osteolytic defects of the proximal phalanx of the 2nd finger Human Phenotype Ontology C4021433 HP:0009584 16 Feb 2016 Finding Osteolytic defects of the proximal phalanx of the 2nd toe Human Phenotype Ontology C4023855 HP:0010399 16 Feb 2016 Finding Osteolytic defects of the proximal phalanx of the 3rd finger Human Phenotype Ontology C4024352 HP:0009453 16 Feb 2016 Finding Osteolytic defects of the proximal phalanx of the 3rd toe Human Phenotype Ontology C4022072 HP:0100455 16 Feb 2016 Finding Osteolytic defects of the proximal phalanx of the 4th finger Human Phenotype Ontology C4024450 HP:0009312 16 Feb 2016 Finding Osteolytic defects of the proximal phalanx of the 4th toe Human Phenotype Ontology C4022071 HP:0100456 16 Feb 2016 Finding Osteolytic defects of the proximal phalanx of the 5th finger Human Phenotype Ontology C4024514 HP:0009230 16 Feb 2016 Finding Osteolytic defects of the proximal phalanx of the 5th toe Human Phenotype Ontology C4022070 HP:0100457 16 Feb 2016 Finding Osteolytic defects of the proximal phalanx of the hallux Human Phenotype Ontology C4024058 HP:0010089 16 Feb 2016 Finding Osteoma Human Phenotype Ontology C0029440 HP:0100246 16 Feb 2016 Finding Osteoma cutis Human Phenotype Ontology CN241124 HP:0025027 02 Apr 2017 Finding Osteoma of cranial vault, familial NCBI curation C1863677 603600 16 Feb 2016 Disease Osteoma of middle ear NCBI curation C1850142 259650 16 Feb 2016 Disease Osteomalacia Human Phenotype Ontology C0029442 HP:0002749 16 Feb 2016 Disease Osteomalacia (disease) MONDO MONDO:0001068 17 Apr 2020 Disease Osteomalacia, sclerosing, with cerebral calcification NCBI curation C1850141 259660 16 Feb 2016 Disease Osteomas of mandible NCBI curation C1833733 166400 16 Feb 2016 Disease Osteomyelitis (disease) MONDO C0029443 MONDO:0005246 17 Apr 2020 Disease Osteomyelitis due to immunodeficiency C3806330 16 Feb 2016 Finding Osteomyelitis leading to amputation due to slow healing fractures Human Phenotype Ontology C1864975 HP:0005010 16 Feb 2016 Finding Osteomyelitis, sterile multifocal, with periostitis and pustulosis NCBI curation C2748507 612852 16 Feb 2016 Disease Osteonecrosis C0029445 16 Feb 2016 Disease Osteonecrosis of genetic origin MONDO CN229161 MONDO:0018383 17 Apr 2020 Disease Osteonecrosis of the jaw MONDO C2711248 MONDO:0018378 17 Apr 2020 Disease Osteopathia striata Human Phenotype Ontology C0265513 HP:0010740 16 Feb 2016 Finding Osteopathia striata with cranial sclerosis C0432268 300373 16 Feb 2016 Disease Osteopathia striata with pigmentary dermopathy including white forelock 16 Feb 2016 Disease Osteopathia striata-pigmentary dermopathy-white forelock syndrome MONDO C2931096 MONDO:0017197 17 Apr 2020 Disease Osteopenia Human Phenotype Ontology C0029453 HP:0000938 16 Feb 2016 Finding Osteopenia-intellectual disability-sparse hair syndrome MONDO C1850140 MONDO:0009814 259690 17 Apr 2020 Disease Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome MONDO C4302823 MONDO:0019603 17 Apr 2020 Disease Osteopenic nonfracture syndrome NCBI curation C2674706 16 Feb 2016 Disease Osteopetrosis Human Phenotype Ontology C0029454 HP:0011002 16 Feb 2016 Finding Osteopetrosis with renal tubular acidosis C0345407 259730 16 Feb 2016 Disease Osteopetrosis, autosomal dominant OMIM phenotypic series C4272579 PS607634 26 Nov 2017 Disease OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 OMIM C4748197 618107 618107 06 Sep 2018 Disease Osteopetrosis, autosomal recessive 3, with renal tubular acidosis CN259064 14 Jun 2019 Disease Osteopetrosis, autosomal recessive 5 NCBI curation C1968603 259720 12 Sep 2018 Disease Osteopetrosis, autosomal recessive 8 NCBI curation C3554478 615085 16 Feb 2016 Disease Osteopoikilosis Human Phenotype Ontology C0029455 HP:0010739 16 Feb 2016 Disease Osteopoikilosis (disease) MONDO MONDO:0001414 17 Apr 2020 Disease Osteopoikilosis with melorheostosis NCBI curation C3149695 16 Feb 2016 Disease OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS 25 Jun 2020 Disease Osteopoikilosis, isolated NCBI curation C1833699 16 Feb 2016 Disease Osteoporosis Human Phenotype Ontology C2911643 HP:0000939 16 Feb 2016 Finding Osteoporosis macrocephaly mental retardation blindness 16 Feb 2016 Disease Osteoporosis of vertebrae Human Phenotype Ontology C4025170 HP:0005625 16 Feb 2016 Finding Osteoporosis with pseudoglioma C0432252 259770 16 Feb 2016 Disease Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome MONDO C4274786 MONDO:0017199 17 Apr 2020 Disease Osteoporosis-oculocutaneous hypopigmentation syndrome MONDO C1832592 MONDO:0011020 601220 22 Apr 2020 Disease Osteoporosis;Osteoporosis, Postmenopausal PharmGKB 17 Feb 2017 Disease Osteoporotic forearm bones Human Phenotype Ontology C4025475 HP:0003964 16 Feb 2016 Finding Osteoporotic humerus Human Phenotype Ontology C4025535 HP:0003876 16 Feb 2016 Finding Osteoporotic metatarsal Human Phenotype Ontology C1836873 HP:0004699 16 Feb 2016 Finding Osteoporotic tarsals Human Phenotype Ontology C1836872 HP:0008076 16 Feb 2016 Finding Osteoradionecrosis MONDO C0029461 MONDO:0043735 17 Apr 2020 Disease Osteoradionecrosis of the mandible MONDO C1290728 MONDO:0033839 17 Apr 2020 Disease Osteosarcoma Human Phenotype Ontology C0029463 HP:0002669 259500 16 Feb 2016 Disease Osteosarcoma (disease) MONDO MONDO:0009807 17 Apr 2020 Disease Osteosarcoma arising in bone Paget disease MONDO C1335148 MONDO:0004275 17 Apr 2020 Disease Osteosclerosis - Stanescu type C0432263 122900 16 Feb 2016 Disease Osteosclerosis abnormalities of nervous system and meninges 16 Feb 2016 Disease Osteosclerosis autosomal dominant Worth type 16 Feb 2016 Disease Osteosclerosis of ribs Human Phenotype Ontology C4025013 HP:0006634 16 Feb 2016 Finding Osteosclerosis of the base of the skull Human Phenotype Ontology C4021624 HP:0005746 16 Feb 2016 Finding Osteosclerosis of the radius Human Phenotype Ontology C4022460 HP:0040061 16 Feb 2016 Finding Osteosclerosis of the ulna Human Phenotype Ontology C4021697 HP:0003991 16 Feb 2016 Finding Osteosclerosis with ichthyosis and fractures NCBI curation C1833697 166740 16 Feb 2016 Disease Osteosclerosis-developmental delay-craniosynostosis syndrome MONDO C4302818 MONDO:0015800 17 Apr 2020 Disease Osteosclerosis-ichthyosis-premature ovarian failure syndrome MONDO C1864942 MONDO:0012387 609993 17 Apr 2020 Disease Osteosclerotic chondrodysplasia, lethal, with intracellular inclusions NCBI curation C1863920 603393 16 Feb 2016 Disease Osteosclerotic metaphyseal dysplasia NCBI curation C3554665 615198 16 Feb 2016 Disease Osteosclerotic plasma cell myeloma MONDO C3898068 MONDO:0004815 17 Apr 2020 Disease Ostertagiasis MONDO C0029471 MONDO:0005891 04 Jun 2020 Infectious disease Ostium secundum atrium septum defect 23 Jan 2020 Finding Ota Kawamura Ito syndrome 16 Feb 2016 Disease Other acquired skin disease MONDO CN206373 MONDO:0019546 17 Apr 2020 Disease other arthropathies 14 Mar 2019 Finding other cancer C1707251 19 Mar 2016 Finding other disorders of soft tissue 14 Mar 2019 Finding other disorders of testis 14 Mar 2019 Finding other dyschromia 14 Mar 2019 Finding other dyspnea 14 Mar 2019 Finding Other epidermal disorder MONDO CN227609 MONDO:0019274 17 Apr 2020 Disease Other genetic dermis disorder MONDO CN776936 MONDO:0018798 17 Apr 2020 Disease Other genetic epidermal disease MONDO CN205922 MONDO:0019275 17 Apr 2020 Disease other headache syndromes 14 Mar 2019 Finding Other immunodeficiency syndrome with predominantly antibody defects MONDO CN204282 MONDO:0018041 17 Apr 2020 Disease Other immunodeficiency syndromes due to defects in innate immunity MONDO CN204276 MONDO:0018033 17 Apr 2020 Disease Other inborn metabolic disease MONDO CN206450 MONDO:0019602 17 Apr 2020 Disease Other metabolic disease with epilepsy MONDO CN201333 MONDO:0016406 17 Apr 2020 Disease Other metabolic disease with skin involvement MONDO CN205838 MONDO:0019252 17 Apr 2020 Disease Other rare diabetes mellitus MONDO CN226773 MONDO:0015888 17 Apr 2020 Disease Other syndrome with a central nervous system malformation as major feature MONDO CN202470 MONDO:0017120 17 Apr 2020 Disease Other syndrome with lissencephaly as a major feature MONDO CN197489 MONDO:0015147 17 Apr 2020 Disease Otitis C0029877 09 Dec 2016 Finding Otitis externa Human Phenotype Ontology C0029878 HP:0410017 04 Apr 2018 Infectious disease Otitis media Human Phenotype Ontology C0029882 HP:0000388 16 Feb 2016 Finding Otitis media with effusion Human Phenotype Ontology C0456498 HP:0031353 04 Apr 2018 Finding Otitis media, susceptibility to NCBI curation C1833692 166760 16 Feb 2016 Disease Oto-palato-digital syndrome, type I C0265251 311300 16 Feb 2016 Disease Oto-palato-digital syndrome, type II C1844696 304120 16 Feb 2016 Disease Otodental syndrome MONDO C1833693 MONDO:0008161 166750 22 Apr 2020 Disease Otodental syndrome with coloboma NCBI curation 16 Feb 2016 Disease Otofaciocervical syndrome OMIM phenotypic series C1833691 PS166780 09 Oct 2017 Disease Otofaciocervical syndrome 1 NCBI curation C3714941 166780 09 Oct 2017 Disease Otofaciocervical syndrome 2 NCBI curation C3714942 615560 16 Feb 2016 Disease Otofacioosseous-gonadal syndrome NCBI curation C1865988 601976 16 Feb 2016 Disease Otomandibular dysplasia MONDO CN228951 MONDO:0015482 17 Apr 2020 Disease Otomandibular dysplasia associated with monogenic syndromes MONDO CN199632 MONDO:0015495 17 Apr 2020 Disease Otomycosis MONDO C0029895 MONDO:0000262 04 Jun 2020 Infectious disease Otoonychoperoneal syndrome C1850105 259780 16 Feb 2016 Disease Otopalatodigital spectrum disorder NCBI curation C2748918 16 Feb 2016 Disease Otopalatodigital Spectrum Disorders GeneReviews CN043653 NBK1393 16 Feb 2016 Disease Otopalatodigital syndrome MONDO MONDO:0019027 17 Apr 2020 Disease Otorhinolaryngologic disease MONDO MONDO:0024623 17 Apr 2020 Disease Otosalpingitis MONDO C0155428 MONDO:0002172 17 Apr 2020 Disease Otosclerosis OMIM phenotypic series C0029899 PS166800 16 Feb 2016 Disease Otosclerosis Human Phenotype Ontology C0029899 HP:0000362 16 Feb 2016 Disease Otosclerosis 1 NCBI curation C4551901 166800 16 Feb 2016 Disease Otosclerosis 10 NCBI curation C3888339 615589 16 Feb 2016 Disease Otosclerosis 2 NCBI curation C1854022 605727 16 Feb 2016 Disease Otosclerosis 3 NCBI curation C1842353 608244 16 Feb 2016 Disease Otosclerosis 4 NCBI curation C1969046 611571 16 Feb 2016 Disease Otosclerosis 5 NCBI curation C1837422 608787 16 Feb 2016 Disease Otosclerosis 7 NCBI curation C1969044 611572 16 Feb 2016 Disease Otosclerosis 8 NCBI curation C2677515 612096 16 Feb 2016 Disease Otospondylomegaepiphyseal dysplasia CN263158 18 Jan 2020 Disease Otospondylomegaepiphyseal dysplasia, autosomal dominant NCBI curation C1861481 184840 18 Jan 2020 Disease Otospondylomegaepiphyseal dysplasia, autosomal recessive NCBI curation C0432210 215150 18 Jan 2020 Disease Ototoxicity PharmGKB C0235280 18 May 2016 Disease OTX2-Related Syndromic Microphthalmia CN239478 02 Dec 2016 Disease Ouabain resistance NCBI curation C1839502 311350 16 Feb 2016 Disease Outlet dysfunction constipation MONDO MONDO:0002202 17 Apr 2020 Disease Ouvrier Billson syndrome 16 Feb 2016 Disease Oval face Human Phenotype Ontology C1849025 HP:0000300 16 Feb 2016 Finding Oval palate 23 Jan 2020 Finding Oval pupil Human Phenotype Ontology C4476698 HP:0025310 02 Apr 2017 Finding Oval transradiancy of humerus Human Phenotype Ontology C4025534 HP:0003877 02 Apr 2017 Finding Ovalocytosis, hereditary hemolytic, with defective erythropoiesis NCBI curation C1833689 166910 16 Feb 2016 Disease Ovalocytosis, southeast Asian NCBI curation C1862322 166900 08 Jul 2019 Disease Ovarian Adenocarcinoma NCBI curation C0948216 02 Mar 2017 Disease Ovarian adenoma benign MONDO MONDO:0005179 17 Apr 2020 Disease Ovarian adenosarcoma MONDO C1335169 MONDO:0002880 17 Apr 2020 Disease Ovarian angiosarcoma MONDO C1335152 MONDO:0003035 17 Apr 2020 Disease Ovarian benign neoplasm MONDO MONDO:0000646 17 Apr 2020 Disease Ovarian biphasic or triphasic teratoma MONDO C1518691 MONDO:0003821 17 Apr 2020 Disease Ovarian Brenner tumor MONDO MONDO:0002370 17 Apr 2020 Disease Ovarian cancer NCBI curation C1140680 16 Feb 2016 Disease Ovarian cancer 1 NCBI curation C2675601 607893 16 Feb 2016 Disease Ovarian cancer, childhood 16 Feb 2016 Disease OVARIAN CANCER, EPITHELIAL, SOMATIC C0677886 01 Jul 2020 Disease Ovarian cancer, familial 1 NCBI curation 16 Feb 2016 Disease Ovarian cancer, familial 2 NCBI curation 16 Feb 2016 Disease Ovarian cancer, familial 3 NCBI curation 16 Feb 2016 Disease Ovarian Cancers 18 Oct 2019 Disease Ovarian carcinoma Human Phenotype Ontology C4721610 HP:0025318 02 Apr 2017 Finding Ovarian carcinosarcoma C0392998 16 Feb 2016 Disease Ovarian clear cell adenocarcinoma MONDO C1518693 MONDO:0006045 17 Apr 2020 Disease Ovarian clear cell adenofibroma MONDO C1518694 MONDO:0003695 17 Apr 2020 Disease Ovarian clear cell cancer MONDO C1518230 MONDO:0000548 17 Apr 2020 Disease Ovarian clear cell cystadenocarcinoma MONDO C0279667 MONDO:0004222 17 Apr 2020 Disease Ovarian clear cell cystadenofibroma MONDO C1518695 MONDO:0003694 17 Apr 2020 Disease Ovarian clear cell malignant adenofibroma MONDO C2075522 MONDO:0003922 17 Apr 2020 Disease Ovarian clear cell tumor MONDO C0346164 MONDO:0021144 17 Apr 2020 Disease Ovarian cyst Human Phenotype Ontology C0029927 HP:0000138 16 Feb 2016 Finding Ovarian cyst (disease) MONDO MONDO:0003282 17 Apr 2020 Disease Ovarian cystadenocarcinoma MONDO C1096638 MONDO:0002702 17 Apr 2020 Disease Ovarian cystadenoma MONDO C0346169 MONDO:0005183 17 Apr 2020 Disease Ovarian cystic teratoma MONDO C1335155 MONDO:0003281 17 Apr 2020 Disease Ovarian dermoid cyst Human Phenotype Ontology C0237020 HP:0025274 02 Apr 2017 Finding Ovarian dwarfism 16 Feb 2016 Disease Ovarian dwarfism as part of Turner Syndrome 16 Feb 2016 Disease Ovarian dysfunction MONDO MONDO:0001889 17 Apr 2020 Disease Ovarian dysgenesis OMIM phenotypic series C0342510 PS233300 05 Dec 2019 Disease Ovarian dysgenesis 1 NCBI curation C0949595 233300 16 Feb 2016 Disease Ovarian dysgenesis 2 NCBI curation C1845294 300510 16 Feb 2016 Disease Ovarian dysgenesis 3 NCBI curation C3280471 614324 16 Feb 2016 Disease Ovarian dysgenesis 4 NCBI curation C4015409 616185 16 Feb 2016 Disease OVARIAN DYSGENESIS 5 OMIM C4540141 617690 617690 27 Sep 2017 Disease OVARIAN DYSGENESIS 6 OMIM C4748084 618078 618078 09 Aug 2018 Disease OVARIAN DYSGENESIS 7 OMIM C4748263 618117 618117 14 Sep 2018 Disease OVARIAN DYSGENESIS 8 OMIM C4748626 618187 618187 18 Nov 2018 Disease Ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis NCBI curation C3148970 605756 16 Feb 2016 Disease Ovarian ectopic pregnancy MONDO MONDO:0044098 17 Apr 2020 Disease Ovarian embryonal carcinoma MONDO C0346183 MONDO:0003581 17 Apr 2020 Disease Ovarian endometrial cancer MONDO C1518231 MONDO:0003812 17 Apr 2020 Disease Ovarian endometrioid adenocarcinofibroma MONDO C1518711 MONDO:0003879 17 Apr 2020 Disease Ovarian endometrioid adenocarcinoma MONDO C0346163 MONDO:0006335 17 Apr 2020 Disease Ovarian endometrioid adenocarcinoma with squamous differentiation MONDO C2212017 MONDO:0006336 17 Apr 2020 Disease Ovarian endometrioid adenofibroma MONDO C2212024 MONDO:0003463 17 Apr 2020 Disease Ovarian endometrioid cystadenofibroma MONDO C1335158 MONDO:0004214 17 Apr 2020 Disease Ovarian endometrioid cystadenoma MONDO C1518713 MONDO:0004136 17 Apr 2020 Disease Ovarian endometrioid stromal and related neoplasms MONDO C4288544 MONDO:0003312 17 Apr 2020 Disease Ovarian endometriosis MONDO C0156344 MONDO:0006337 17 Apr 2020 Disease Ovarian epithelial tumor MONDO C0341823 MONDO:0002229 17 Apr 2020 Disease Ovarian fetiform teratoma MONDO C1518715 MONDO:0003851 17 Apr 2020 Disease Ovarian fibrothecoma MONDO C4707356 MONDO:0017802 17 Apr 2020 Disease Ovarian germ cell tumor 16 Feb 2016 Disease Ovarian gonadoblastoma Human Phenotype Ontology C1518716 HP:0000149 16 Feb 2016 Finding Ovarian gynandroblastoma MONDO C0346178 MONDO:0020540 17 Apr 2020 Disease Ovarian hyperstimulation syndrome NCBI curation C0085083 608115 16 Feb 2016 Disease Ovarian insufficiency due to FSH resistance 16 Feb 2016 Disease Ovarian insufficiency, familial 16 Feb 2016 Disease Ovarian large-cell neuroendocrine carcinoma MONDO C1335174 MONDO:0003049 17 Apr 2020 Disease Ovarian low malignant potential tumor 16 Feb 2016 Disease Ovarian lymphoma MONDO C1518720 MONDO:0002227 17 Apr 2020 Disease Ovarian malignant mesothelioma MONDO C1518721 MONDO:0002223 17 Apr 2020 Disease Ovarian melanoma MONDO MONDO:0000543 17 Apr 2020 Disease Ovarian microcystic stromal tumor MONDO C4054287 MONDO:0006339 17 Apr 2020 Disease Ovarian mixed germ cell neoplasm MONDO C0280135 MONDO:0003710 17 Apr 2020 Disease Ovarian monodermal and highly specialized teratoma MONDO C0280134 MONDO:0002372 17 Apr 2020 Disease Ovarian monodermal teratoma MONDO C1302569 MONDO:0003331 17 Apr 2020 Disease Ovarian mucinous adenocarcinofibroma MONDO C2212014 MONDO:0003839 17 Apr 2020 Disease Ovarian mucinous adenocarcinoma MONDO C1335167 MONDO:0005601 17 Apr 2020 Disease Ovarian mucinous adenofibroma MONDO C1518723 MONDO:0003887 17 Apr 2020 Disease Ovarian mucinous cystadenocarcinoma MONDO C0279665 MONDO:0002701 17 Apr 2020 Disease Ovarian mucinous cystadenofibroma MONDO C1518725 MONDO:0004074 17 Apr 2020 Disease Ovarian mucinous tumor Human Phenotype Ontology C1335168 HP:0031494 04 Apr 2018 Finding Ovarian myxoid liposarcoma MONDO C1335170 MONDO:0004436 17 Apr 2020 Disease Ovarian Neoplasms PharmGKB CN236629 18 May 2016 Disease Ovarian neuroendocrine neoplasm MONDO C1335172 MONDO:0002481 17 Apr 2020 Disease Ovarian papillary adenocarcinoma Human Phenotype Ontology C4024979 HP:0006774 16 Feb 2016 Finding Ovarian papillary cystadenoma MONDO C1335175 MONDO:0003872 17 Apr 2020 Disease Ovarian papillary tumor MONDO C0476121 MONDO:0003813 17 Apr 2020 Disease Ovarian primitive germ cell tumor MONDO C1518727 MONDO:0003408 17 Apr 2020 Disease Ovarian remnant syndrome 16 Feb 2016 Disease Ovarian response to FSH stimulation NCBI curation C1848715 16 Feb 2016 Disease Ovarian sarcoma MONDO C0280746 MONDO:0002225 17 Apr 2020 Disease Ovarian seromucinous carcinoma MONDO C0279392 MONDO:0004032 17 Apr 2020 Disease Ovarian seromucinous tumor MONDO C0346166 MONDO:0003811 17 Apr 2020 Disease Ovarian serous adenocarcinoma MONDO C1335177 MONDO:0005211 17 Apr 2020 Disease Ovarian serous adenofibroma MONDO C1518729 MONDO:0006340 17 Apr 2020 Disease Ovarian Serous Cystadenocarcinoma NCBI curation C0279663 02 Mar 2017 Disease Ovarian serous cystadenofibroma MONDO C0877572 MONDO:0004185 17 Apr 2020 Disease Ovarian serous cystadenoma Human Phenotype Ontology C0346170 HP:0012887 16 Feb 2016 Finding Ovarian Serous Surface Papillary Adenocarcinoma NCBI curation C1335178 24 Aug 2018 Disease Ovarian serous tumor MONDO C0476122 MONDO:0037255 17 Apr 2020 Disease Ovarian Sertoli-Leydig cell tumor MONDO C0003810 MONDO:0036595 17 Apr 2020 Disease Ovarian sex cord-stromal tumor MONDO C0600113 MONDO:0021657 17 Apr 2020 Disease Ovarian small cell carcinoma C2212006 16 Feb 2016 Disease Ovarian solid teratoma MONDO C1335181 MONDO:0003852 17 Apr 2020 Disease Ovarian squamous cell carcinoma MONDO C2019443 MONDO:0003494 17 Apr 2020 Disease Ovarian squamous cell neoplasm MONDO C1518739 MONDO:0003495 17 Apr 2020 Disease Ovarian stromal hyperthecosis MONDO C1518743 MONDO:0004194 17 Apr 2020 Disease Ovarian surface papilloma MONDO C1335183 MONDO:0003873 17 Apr 2020 Disease Ovarian teratoma Human Phenotype Ontology C0280131 HP:0012226 166950 04 Apr 2018 Disease Ovarian thecoma Human Phenotype Ontology C1882229 HP:0030983 04 Apr 2018 Finding Ovarian transitional cell carcinoma MONDO C1335184 MONDO:0006343 17 Apr 2020 Disease Ovarian Wilms tumor MONDO C1518746 MONDO:0002230 17 Apr 2020 Disease Ovarian yolk sac tumor MONDO C0346188 MONDO:0006344 17 Apr 2020 Disease Ovarian yolk sac tumor, glandular pattern MONDO C1518747 MONDO:0003905 17 Apr 2020 Disease Ovarian yolk sac tumor, hepatoid pattern MONDO C1518748 MONDO:0003906 17 Apr 2020 Disease Ovarian yolk sac tumor, polyvesicular vitelline pattern MONDO C1518749 MONDO:0003907 17 Apr 2020 Disease Ovarioleukodystrophy NCBI curation C1847967 16 Feb 2016 Disease Ovary leiomyosarcoma MONDO C1335163 MONDO:0003355 17 Apr 2020 Disease Ovary mixed epithelial carcinoma MONDO MONDO:0004031 17 Apr 2020 Disease Ovary rhabdomyosarcoma MONDO C1335176 MONDO:0002858 17 Apr 2020 Disease over-anticoagulation PharmGKB CN236689 06 Jul 2018 Disease Overactive bladder (disease) MONDO MONDO:0006624 17 Apr 2020 Disease Overbite Human Phenotype Ontology C1305740 HP:0011094 16 Feb 2016 Finding Overfolded helix Human Phenotype Ontology C1837731 HP:0000396 16 Feb 2016 Finding Overfolding of the superior helices Human Phenotype Ontology C1865304 HP:0004453 16 Feb 2016 Finding Overfriendliness Human Phenotype Ontology C4022386 HP:0100025 16 Feb 2016 Finding Overgrowth Human Phenotype Ontology C1849265 HP:0001548 16 Feb 2016 Finding Overgrowth of external genitalia Human Phenotype Ontology C1851722 HP:0003247 16 Feb 2016 Finding Overgrowth of filiform papillae C0040414 16 Feb 2016 Disease Overgrowth of lower torso CN233166 16 Feb 2016 Finding Overgrowth or tall stature syndrome with skeletal involvement MONDO CN258448 MONDO:0028741 17 Apr 2020 Disease Overgrowth radial ray defect arthrogryposis 16 Feb 2016 Disease Overgrowth syndrome NCBI curation C2986703 16 Feb 2016 Disease Overgrowth syndrome type Fryer 16 Feb 2016 Disease Overgrowth/obesity syndrome MONDO CN199360 MONDO:0015330 17 Apr 2020 Disease Overhanging nasal tip Human Phenotype Ontology C0426430 HP:0011833 16 Feb 2016 Finding Overhydrated hereditary stomatocytosis MONDO C1861455 MONDO:0008493 185000 17 Apr 2020 Disease Overjet Human Phenotype Ontology C0596028 HP:0011095 16 Feb 2016 Finding Overlap myositis MONDO CN226835 MONDO:0016099 17 Apr 2020 Disease Overlapping connective tissue disease MONDO CN201903 MONDO:0016663 17 Apr 2020 Disease Overlapping fingers Human Phenotype Ontology C1446712 HP:0010557 16 Feb 2016 Finding Overlapping toe Human Phenotype Ontology C0920299 HP:0001845 16 Feb 2016 Finding Overmodelled hand bones Human Phenotype Ontology C4025371 HP:0004285 16 Feb 2016 Finding Overnutrition MONDO C1257763 MONDO:0003916 17 Apr 2020 Disease Overriding aorta Human Phenotype Ontology C0265886 HP:0002623 16 Feb 2016 Finding Overriding atrioventricular valve Human Phenotype Ontology C4023298 HP:0011561 16 Feb 2016 Finding overriding digits 10 Aug 2018 Disease Overtubulated long bones Human Phenotype Ontology C1848769 HP:0006391 16 Feb 2016 Finding Overweight Human Phenotype Ontology C0497406 HP:0025502 28 Mar 2018 Finding Ovoid thoracolumbar vertebrae Human Phenotype Ontology C1868556 HP:0003309 16 Feb 2016 Finding Ovoid vertebral bodies Human Phenotype Ontology C1855665 HP:0003300 16 Feb 2016 Finding OVOTESTICULAR DISORDER OF SEX DEVELOPMENT CN258766 25 May 2019 Disease Ovotesticular dsd NCBI curation 16 Feb 2016 Disease Ovotestis Human Phenotype Ontology C4551490 HP:0012861 16 Feb 2016 Finding oxaliplatin response - Efficacy PharmGKB 655386657PA131285527 06 Jul 2018 Pharmacological response oxaliplatin response - Efficacy, Toxicity/ADR PharmGKB CN236570 655386657 18 May 2016 Pharmacological response Oxalosis 16 Feb 2016 Disease oxazepam response - Other PharmGKB CN236612 655387798 18 May 2016 Pharmacological response Oxcarbazepine Response CN282567 17 Jun 2020 Pharmacological response Oxoglutaricaciduria MONDO C2752074 MONDO:0008759 203740 17 Apr 2020 Disease Oxycephaly Human Phenotype Ontology C4551646 HP:0000263 16 Feb 2016 Finding Oxycodone response NCBI curation CN221247 16 Feb 2016 Pharmacological response oxycodone response - Dosage PharmGKB CN236540 1444704833 18 May 2016 Pharmacological response oxycodone response - Dosage, Efficacy PharmGKB 1444704833PA450741 06 Jul 2018 Pharmacological response Oxygen desaturation on exertion Human Phenotype Ontology C4280731 HP:0030874 02 Apr 2017 Finding Oxyphilic adenoma NCBI curation C1510502 553000 16 Feb 2016 Disease Oxyphilic endometrial endometrioid adenocarcinoma MONDO C1518768 MONDO:0004019 17 Apr 2020 Disease P mitrale Human Phenotype Ontology C0232310 HP:0031599 04 Apr 2018 Finding p phenotype NCBI curation C3549485 111400 16 Feb 2016 Blood group P pulmonale Human Phenotype Ontology C0232308 HP:0031601 04 Apr 2018 Finding P wave inversion Human Phenotype Ontology C4703434 HP:0031600 04 Apr 2018 Finding P1 phenotype NCBI curation 16 Feb 2016 Disease P1(k) phenotype NCBI curation CN042606 20 Jun 2017 Disease P2 phenotype NCBI curation 16 Feb 2016 Disease P2(k) PHENOTYPE NCBI curation C1292199 10 Apr 2018 Disease PA POLYMORPHISM OF ALPHA-2-GLOBULIN OMIM C1850104 260100 260100 16 Feb 2016 Named protein variant Pachydermodactyly, familial NCBI curation C1838218 600356 16 Feb 2016 Disease Pachydermoperiostosis syndrome NCBI curation C0029411 05 Feb 2020 Disease Pachygyria Human Phenotype Ontology CN001193 HP:0001302 16 Feb 2016 Finding PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES OMIM C5231486 618737 618737 19 Jan 2020 Disease Pachygyria-intellectual disability-epilepsy syndrome MONDO C1838491 MONDO:0010840 600176 17 Apr 2020 Disease Pachyonychia congenita 1 NCBI curation C1706595 167200 04 Feb 2018 Disease Pachyonychia congenita 2 NCBI curation C1721007 167210 04 Feb 2018 Disease Pachyonychia congenita 3 NCBI curation C3714948 615726 04 Feb 2018 Disease Pachyonychia congenita 4 NCBI curation C3714949 615728 16 Feb 2016 Disease Pachyonychia congenita syndrome NCBI curation C0265334 16 Feb 2016 Disease Pachyonychia congenita, autosomal recessive NCBI curation C1850103 260130 24 Aug 2016 Disease Pacinian tumor MONDO C0334599 MONDO:0002383 17 Apr 2020 Disease paclitaxel response - Efficacy PharmGKB CN236571 655384573 18 May 2016 Pharmacological response paclitaxel response - Efficacy, Toxicity/ADR PharmGKB CN236572 655386635 18 May 2016 Pharmacological response Pacman dysplasia C1833676 167220 16 Feb 2016 Disease PACS1-related syndrome 21 May 2020 Disease PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia CN229785 16 Feb 2016 Disease PAGANINI-MIOZZO SYNDROME OMIM C5193010 301025 301025 20 Jun 2019 Disease Paget disease MONDO C1368019 MONDO:0021165 17 Apr 2020 Disease Paget disease of bone OMIM phenotypic series C0029401 PS167250 24 Jun 2016 Disease Paget disease of bone 2, early-onset NCBI curation C4085251 602080 17 May 2016 Disease Paget disease of bone 3 MONDO C4085252 MONDO:0008176 167250 22 Apr 2020 Disease Paget disease of bone 4 NCBI curation C1853473 606263 16 Feb 2016 Disease Paget disease of bone 6 NCBI curation C4085250 616833 26 May 2016 Disease Paget disease of the nipple Orphanet C1704323 ORPHAORPHA180275 27 Apr 2020 Disease Paget disease of the penis MONDO C0221286 MONDO:0002653 17 Apr 2020 Disease PAGOD syndrome C1859967 202660 16 Feb 2016 Disease Pagon Stephan syndrome C2931733 16 Feb 2016 Disease Pai syndrome MONDO C1835087 MONDO:0007956 155145 17 Apr 2020 Disease Pain PharmGKB C0030193 16 Feb 2016 Finding Pain Human Phenotype Ontology C0030193 HP:0012531 16 Feb 2016 Finding Pain agnosia MONDO MONDO:0000675 17 Apr 2020 Disease Pain and cramps of lower limbs 29 Aug 2018 Finding pain in joint 14 Mar 2019 Finding Pain insensitivity Human Phenotype Ontology C0344307 HP:0007021 16 Feb 2016 Finding Pain Management CN282568 17 Jun 2020 Pharmacological response PAIN SENSITIVITY QUANTITATIVE TRAIT LOCUS 1 OMIM C4760611 618377 618377 06 Apr 2019 Disease pain syndrome 05 Sep 2019 Finding pain syndrome-pain in right leg 05 Sep 2019 Finding Pain, Postoperative PharmGKB CN236653 18 May 2016 Disease Paine syndrome C1412041 311400 16 Feb 2016 Disease painful handling 13 Feb 2020 Finding painful joint swelling 13 Feb 2020 Finding painful joints 13 Feb 2020 Finding painful nodules 13 Feb 2020 Finding Painful orbital and systemic neurofibromas-marfanoid habitus syndrome MONDO CN203391 MONDO:0017585 17 Apr 2020 Disease Painful subcutaneous lipomas Human Phenotype Ontology C4024838 HP:0007596 16 Feb 2016 Finding Painless fractures due to injury Human Phenotype Ontology C1837602 HP:0002661 16 Feb 2016 Finding Palant cleft palate syndrome C1850102 260150 16 Feb 2016 Disease Palatal abnormalities CN181773 16 Feb 2016 Disease Palatal edema Human Phenotype Ontology C0240621 HP:0031089 04 Apr 2018 Finding Palatal myoclonus Human Phenotype Ontology C0030214 HP:0010530 16 Feb 2016 Finding Palate fistula Human Phenotype Ontology C2032780 HP:0010294 16 Feb 2016 Finding Palate neoplasm Human Phenotype Ontology C0030215 HP:0031366 04 Apr 2018 Finding Palate telangiectasia Human Phenotype Ontology C1857699 HP:0002707 16 Feb 2016 Finding Palate-linea alba CN235477 11 Mar 2016 Finding PALB2-Related Disorders CN239408 02 Dec 2016 Disease pale stools 11 May 2019 Finding Palindromic rheumatism MONDO C0085574 MONDO:0001332 17 Apr 2020 Disease paliperidone response - Toxicity/ADR PharmGKB CN236614 1446898992 18 May 2016 Pharmacological response Pallidal degeneration Human Phenotype Ontology C0393577 HP:0007132 16 Feb 2016 Finding Pallidal degeneration, progressive, with retinitis pigmentosa NCBI curation C1850101 260200 16 Feb 2016 Disease Pallister-Hall syndrome C0265220 146510 16 Feb 2016 Disease Pallister-Killian syndrome NCBI curation C0265449 601803 16 Feb 2016 Disease Pallister-W syndrome MONDO C0796110 MONDO:0010708 311450 22 Apr 2020 Disease Pallor Human Phenotype Ontology C0030232 HP:0000980 16 Feb 2016 Finding pallor and flushing 14 Mar 2019 Finding Pallor of dorsal columns of the spinal cord Human Phenotype Ontology C1865416 HP:0006825 16 Feb 2016 Finding Palmar edema Human Phenotype Ontology C0859238 HP:0025538 04 Apr 2018 Finding Palmar fibromatosis MONDO C4085370 MONDO:0006345 17 Apr 2020 Disease Palmar hyperhidrosis Human Phenotype Ontology C1856953 HP:0006089 16 Feb 2016 Finding Palmar hyperkeratosis Human Phenotype Ontology C4023710 HP:0010765 16 Feb 2016 Finding Palmar neurofibromas Human Phenotype Ontology C4024841 HP:0007576 16 Feb 2016 Finding Palmar pits Human Phenotype Ontology C0423776 HP:0010610 16 Feb 2016 Finding Palmar pruritus Human Phenotype Ontology C0240649 HP:0031248 04 Apr 2018 Finding Palmar telangiectasia Human Phenotype Ontology C4020948 HP:0100869 16 Feb 2016 Finding Palmaris longus muscle, absence of NCBI curation C1868661 167600 16 Feb 2016 Disease Palmer Pagon syndrome C2931734 16 Feb 2016 Disease Palmomental reflex Human Phenotype Ontology C0751470 HP:0030902 167700 16 Feb 2016 Disease Palmoplantar blistering Human Phenotype Ontology C4024876 HP:0007446 16 Feb 2016 Finding Palmoplantar carcinoma, multiple self-healing NCBI curation C3808876 615225 20 Jun 2017 Disease Palmoplantar cutis gyrata Human Phenotype Ontology C1851797 HP:0007469 16 Feb 2016 Finding Palmoplantar cutis laxa Human Phenotype Ontology C1856714 HP:0007517 16 Feb 2016 Finding Palmoplantar erythema Human Phenotype Ontology C4476809 HP:0025493 04 Apr 2018 Finding Palmoplantar hyperhidrosis Human Phenotype Ontology C1274743 HP:0007410 144110 16 Feb 2016 Disease Palmoplantar hyperkeratosis and true hermaphroditism NCBI curation C2674504 16 Feb 2016 Disease Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal NCBI curation C3149931 610644 16 Feb 2016 Disease Palmoplantar keratoderma Human Phenotype Ontology C4551675 HP:0000982 16 Feb 2016 Finding Palmoplantar keratoderma and woolly hair NCBI curation C4015202 616099 16 Feb 2016 Disease Palmoplantar keratoderma i, striate, focal, or diffuse MONDO C2931122 MONDO:0007859 148700 22 Apr 2020 Disease Palmoplantar keratoderma of Sybert 16 Feb 2016 Disease Palmoplantar keratoderma, Bothnian type MONDO C1838359 MONDO:0010849 600231 17 Apr 2020 Disease Palmoplantar keratoderma, epidermolytic, with knuckle pads NCBI curation C1840427 16 Feb 2016 Disease Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques NCBI curation C2609071 614594 16 Feb 2016 Disease Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked NCBI curation C3806745 300918 16 Feb 2016 Disease Palmoplantar keratoderma, nagashima type NCBI curation C3810072 615598 16 Feb 2016 Disease Palmoplantar keratoderma, nonepidermolytic, focal NCBI curation C4552049 613000 16 Feb 2016 Disease Palmoplantar keratoderma, nonepidermolytic, focal 2 NCBI curation C4225339 616400 16 Feb 2016 Disease Palmoplantar keratoderma, nonepidermolytic, focal or diffuse NCBI curation C3810394 615735 16 Feb 2016 Disease Palmoplantar keratoderma-deafness syndrome MONDO C1835672 MONDO:0007852 148350 17 Apr 2020 Disease Palmoplantar keratoderma-esophageal carcinoma syndrome MONDO C1835664 MONDO:0007856 148500 17 Apr 2020 Disease Palmoplantar keratosis with erythema and scale Human Phenotype Ontology C1843294 HP:0007548 16 Feb 2016 Finding Palmoplantar pustulosis Human Phenotype Ontology C0030246 HP:0100847 16 Feb 2016 Finding Palmoplantar scaling skin Human Phenotype Ontology C4476827 HP:0025524 04 Apr 2018 Finding Palpable purpura Human Phenotype Ontology C0151190 HP:0031363 04 Apr 2018 Finding Palpebral edema Human Phenotype Ontology C0162285 HP:0100540 16 Feb 2016 Finding Palpebral epidermal tumor MONDO MONDO:0020172 17 Apr 2020 Disease Palpebral fissure narrowing on adduction Human Phenotype Ontology C1846465 HP:0000661 16 Feb 2016 Finding Palpebral lentiginosis MONDO MONDO:0020178 17 Apr 2020 Disease Palpebral nevus MONDO C0239460 MONDO:0020179 17 Apr 2020 Disease Palpebral piliary tumor MONDO MONDO:0020180 17 Apr 2020 Disease Palpebral sebaceous gland tumor MONDO MONDO:0020176 17 Apr 2020 Disease Palpebral thickening Human Phenotype Ontology C4476868 HP:0030939 02 Apr 2017 Finding Palpebral tumor with a vascular malformation MONDO MONDO:0020182 17 Apr 2020 Disease Palpitations Human Phenotype Ontology C0030252 HP:0001962 16 Feb 2016 Finding Palpitations (with pheochromocytoma) C1854346 16 Feb 2016 Finding Palsy MONDO C3887651 MONDO:0006496 17 Apr 2020 Disease Pancoast syndrome MONDO C0030271 MONDO:0024674 17 Apr 2020 Disease Pancolitis MONDO MONDO:0005536 17 Apr 2020 Disease Pancreas disease MONDO MONDO:0002356 17 Apr 2020 Disease Pancreas divisum Human Phenotype Ontology C0266270 HP:0030994 04 Apr 2018 Finding Pancreas lymphoma MONDO C1335307 MONDO:0002114 17 Apr 2020 Disease Pancreas sarcoma MONDO C1096346 MONDO:0002117 17 Apr 2020 Disease Pancreas, dorsal, agenesis of NCBI curation C1868659 167755 24 Aug 2016 Disease Pancreatic abscess Human Phenotype Ontology C0238334 HP:0025079 02 Apr 2017 Finding Pancreatic acinar cell carcinoma MONDO C0279661 MONDO:0006346 17 Apr 2020 Disease Pancreatic acinar cell cystadenocarcinoma MONDO C1266087 MONDO:0004343 17 Apr 2020 Disease Pancreatic ACTH-producing neuroendocrine tumor MONDO C1335300 MONDO:0004333 17 Apr 2020 Disease Pancreatic adenocarcinoma Human Phenotype Ontology C0281361 HP:0006725 16 Feb 2016 Disease Pancreatic adenoma 16 Feb 2016 Disease Pancreatic adenosquamous carcinoma MONDO C1335299 MONDO:0005614 17 Apr 2020 Disease Pancreatic agenesis OMIM phenotypic series C5195568 PS260370 06 Feb 2020 Disease Pancreatic agenesis 1 NCBI curation C3891828 260370 06 Feb 2020 Disease Pancreatic agenesis 2 NCBI curation C4014737 615935 16 Feb 2016 Disease Pancreatic agenesis and congenital heart disease NCBI curation C4012454 600001 16 Feb 2016 Disease Pancreatic agenesis-holoprosencephaly syndrome MONDO CN262949 MONDO:0034142 17 Apr 2020 Disease Pancreatic aplasia Human Phenotype Ontology C4021967 HP:0100801 16 Feb 2016 Finding Pancreatic beta cell agenesis with neonatal diabetes mellitus C1838655 600089 16 Feb 2016 Disease Pancreatic calcification Human Phenotype Ontology C1842406 HP:0005213 16 Feb 2016 Finding Pancreatic cancer 1 NCBI curation C1847351 606856 16 Feb 2016 Disease Pancreatic cancer 2 NCBI curation C3150546 613347 16 Feb 2016 Disease Pancreatic cancer 3 NCBI curation C3150547 613348 16 Feb 2016 Disease Pancreatic cancer 4 NCBI curation C3280442 614320 16 Feb 2016 Disease Pancreatic Cancer Susceptibility 4 CN229775 16 Feb 2016 Disease Pancreatic cancer, childhood 16 Feb 2016 Disease Pancreatic cancer, susceptibility to NCBI curation 16 Feb 2016 Disease PANCREATIC CANCER, SUSCEPTIBILITY TO, 5 OMIM C5231459 618680 618680 28 Nov 2019 Disease Pancreatic cholera MONDO MONDO:0004058 17 Apr 2020 Disease PANCREATIC COLIPASE DEFICIENCY C0268241 16 Feb 2016 Disease Pancreatic cystadenocarcinoma MONDO C0238337 MONDO:0002867 17 Apr 2020 Disease Pancreatic cystadenoma MONDO C0341486 MONDO:0002809 17 Apr 2020 Disease Pancreatic cysts Human Phenotype Ontology C0030283 HP:0001737 16 Feb 2016 Finding Pancreatic delta cell neuroendocrine tumor MONDO C1335301 MONDO:0002994 17 Apr 2020 Disease Pancreatic ductal adenocarcinoma MONDO C1335302 MONDO:0005184 17 Apr 2020 Disease Pancreatic dysplasia Human Phenotype Ontology C4019084 HP:0005232 16 Feb 2016 Finding Pancreatic endocrine carcinoma MONDO C1328479 MONDO:0005893 17 Apr 2020 Disease Pancreatic endocrine tumor Human Phenotype Ontology C0242363 HP:0030405 16 Feb 2016 Finding Pancreatic exocrine neoplasm MONDO C0345920 MONDO:0021076 17 Apr 2020 Disease Pancreatic fibrosis Human Phenotype Ontology C0267952 HP:0100732 16 Feb 2016 Finding Pancreatic fistula Human Phenotype Ontology C0030290 HP:0100844 16 Feb 2016 Finding Pancreatic foamy gland adenocarcinoma MONDO C1335303 MONDO:0004287 17 Apr 2020 Disease Pancreatic gastrin-producing neuroendocrine tumor MONDO C1368066 MONDO:0003525 17 Apr 2020 Disease Pancreatic gastrinoma MONDO MONDO:0024638 17 Apr 2020 Disease Pancreatic hemi-agenesis 08 Oct 2017 Finding Pancreatic hyperplasia Human Phenotype Ontology C1851733 HP:0006277 16 Feb 2016 Finding Pancreatic hypoplasia Human Phenotype Ontology C0266267 HP:0002594 16 Feb 2016 Finding Pancreatic insufficiency, combined exocrine NCBI curation C1850081 16 Feb 2016 Disease Pancreatic insulin-producing neuroendocrine tumor MONDO C0021670 MONDO:0005048 17 Apr 2020 Disease Pancreatic insulinoma MONDO MONDO:0024677 17 Apr 2020 Disease Pancreatic intraductal papillary-mucinous carcinoma MONDO C1335304 MONDO:0004285 17 Apr 2020 Disease Pancreatic intraductal papillary-mucinous neoplasm MONDO C4511687 MONDO:0004286 17 Apr 2020 Disease Pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma MONDO C1518871 MONDO:0004481 17 Apr 2020 Disease Pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia MONDO C1518873 MONDO:0004329 17 Apr 2020 Disease Pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia MONDO C1518868 MONDO:0004381 17 Apr 2020 Disease Pancreatic islet cell adenoma Human Phenotype Ontology C1851697 HP:0008261 16 Feb 2016 Finding Pancreatic islet cell tumors 16 Feb 2016 Disease Pancreatic islet-cell hyperplasia Human Phenotype Ontology C0597167 HP:0004510 16 Feb 2016 Finding Pancreatic large cell neuroendocrine carcinoma MONDO C2987239 MONDO:0006347 17 Apr 2020 Disease Pancreatic lipase deficiency NCBI curation C3280527 614338 16 Feb 2016 Disease Pancreatic lipomatosis duodenal stenosis C2931040 16 Feb 2016 Disease Pancreatic lymphangiectasis Human Phenotype Ontology C1856162 HP:0006273 16 Feb 2016 Finding Pancreatic lymphoma, familial NCBI curation C1865139 602596 16 Feb 2016 Disease Pancreatic mucinous cystadenocarcinoma MONDO C2063873 MONDO:0004156 17 Apr 2020 Disease Pancreatic mucinous ductal ectasia MONDO C1335310 MONDO:0001683 17 Apr 2020 Disease Pancreatic mucinous-cystic neoplasm MONDO C1518872 MONDO:0044879 17 Apr 2020 Disease Pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma MONDO C1518870 MONDO:0004158 17 Apr 2020 Disease Pancreatic neoplasm MONDO MONDO:0021040 17 Apr 2020 Disease Pancreatic Neoplasms PharmGKB C0030297 18 May 2016 Disease Pancreatic neuroendocrine neoplasm MONDO CN260758 MONDO:0005815 17 Apr 2020 Disease Pancreatic neuroendocrine tumor G1 MONDO C2987241 MONDO:0021535 17 Apr 2020 Disease Pancreatic non-functioning delta cell tumor MONDO C1335311 MONDO:0004377 17 Apr 2020 Disease Pancreatic non-invasive mucinous cystadenocarcinoma MONDO C1518874 MONDO:0004159 17 Apr 2020 Disease Pancreatic pseudocyst Human Phenotype Ontology C0030299 HP:0005206 16 Feb 2016 Finding Pancreatic serous cystadenocarcinoma MONDO C1335315 MONDO:0003630 17 Apr 2020 Disease Pancreatic serous cystadenoma MONDO C1335316 MONDO:0002808 17 Apr 2020 Disease Pancreatic serous cystic neoplasm MONDO C1518875 MONDO:0002810 17 Apr 2020 Disease Pancreatic signet ring cell adenocarcinoma MONDO C1335317 MONDO:0002666 17 Apr 2020 Disease Pancreatic small cell neuroendocrine carcinoma MONDO C2987240 MONDO:0006348 17 Apr 2020 Disease Pancreatic somatostatinoma MONDO C1368041 MONDO:0002993 17 Apr 2020 Disease Pancreatic squamous cell carcinoma Human Phenotype Ontology C2675993 HP:0012142 16 Feb 2016 Finding Pancreatic steatorrhea MONDO C0152166 MONDO:0001079 17 Apr 2020 Disease Pancreatic tubular adenocarcinoma MONDO MONDO:0005603 17 Apr 2020 Disease Pancreatic vasoactive intestinal peptide producing tumor MONDO C2033037 MONDO:0003622 17 Apr 2020 Disease Pancreatitis Human Phenotype Ontology C0030305 HP:0001733 16 Feb 2016 Finding Pancreatitis, calcific NCBI curation 16 Feb 2016 Disease Pancreatitis, chronic, protection against NCBI curation C1832108 16 Feb 2016 Disease Pancreatitis, chronic, susceptibility to NCBI curation C1969419 16 Feb 2016 Disease Pancreatitis, idiopathic, susceptibility to NCBI curation 16 Feb 2016 Disease Pancreatitis, pediatric 16 Feb 2016 Disease Pancreatitis, sclerosing cholangitis, and sicca complex NCBI curation C1850080 260480 16 Feb 2016 Disease Pancreatoblastoma Human Phenotype Ontology C0334489 HP:0100757 16 Feb 2016 Disease Pancytopenia Human Phenotype Ontology C0030312 HP:0001876 16 Feb 2016 Finding Pancytopenia and occlusive vascular disease NCBI curation C1868652 167850 16 Feb 2016 Disease PANDAS MONDO C2931429 MONDO:0019020 17 Apr 2020 Disease Panhypogammaglobulinemia Human Phenotype Ontology C1328587 HP:0003139 16 Feb 2016 Finding Panhypophysitis MONDO C5190786 MONDO:0019839 17 Apr 2020 Disease Panhypopituitarism Human Phenotype Ontology C0242343 HP:0000871 16 Feb 2016 Finding Panhypopituitarism, X-linked MONDO C0342376 MONDO:0010712 312000 22 Apr 2020 Disease Panic attack Human Phenotype Ontology C0086769 HP:0025269 02 Apr 2017 Finding Panic Disorder PharmGKB C0030319 17 Feb 2017 Disease Panic disorder 1 NCBI curation C1868649 167870 16 Feb 2016 Disease Panic disorder 2 NCBI curation C1842922 607853 16 Feb 2016 Disease Panic disorder 3 NCBI curation C1864946 609985 16 Feb 2016 Disease Panic disorder with agoraphobia MONDO C0236800 MONDO:0044144 17 Apr 2020 Disease Panic disorder with bladder conditions NCBI curation 16 Feb 2016 Disease Panic disorder with joint laxity NCBI curation 16 Feb 2016 Disease Panic disorder without agoraphobia MONDO C0236794 MONDO:0044141 17 Apr 2020 Disease Panitumumab response CN077999 16 Feb 2016 Pharmacological response panitumumab response - Dosage PharmGKB CN240599 1447961082 17 Feb 2017 Pharmacological response Panner disease MONDO C4759831 MONDO:0019969 17 Apr 2020 Disease Panniculitis Human Phenotype Ontology C0030326 HP:0012490 16 Feb 2016 Finding Panniculitis and localized lipodystrophy MONDO CN227651 MONDO:0019555 17 Apr 2020 Disease Panniculitis nodular nonsuppurative 16 Feb 2016 Disease Panophthalmitis MONDO C0030332 MONDO:0006884 04 Jun 2020 Infectious disease Panostotic fibrous dysplasia C2931430 16 Feb 2016 Disease Pansynostosis Human Phenotype Ontology C4021827 HP:0011325 16 Feb 2016 Finding Pantoprazole response NCBI curation CN474478 20 Sep 2017 Pharmacological response Pantothenate kinase-associated neurodegeneration 16 Jul 2017 Finding Panuveitis Human Phenotype Ontology C0030343 HP:0012121 16 Feb 2016 Disease Papillary adenocarcinoma MONDO C0001420 MONDO:0002512 17 Apr 2020 Disease Papillary adenofibroma MONDO C1377850 MONDO:0003462 17 Apr 2020 Disease Papillary adenoma MONDO C0205650 MONDO:0002533 17 Apr 2020 Disease Papillary carcinoma MONDO C0007133 MONDO:0006509 17 Apr 2020 Disease Papillary carcinoma of the cervix uteri MONDO CN201075 MONDO:0016285 17 Apr 2020 Disease Papillary carcinoma of the corpus uteri MONDO CN201057 MONDO:0016268 17 Apr 2020 Disease Papillary carcinoma of the penis MONDO C1335322 MONDO:0004433 17 Apr 2020 Disease Papillary conjunctivitis MONDO C0854165 MONDO:0002309 17 Apr 2020 Disease Papillary craniopharyngioma MONDO C0431128 MONDO:0002788 17 Apr 2020 Disease Papillary cystadenocarcinoma C0206700 16 Feb 2016 Disease Papillary cystadenoma MONDO C0010636 MONDO:0021091 17 Apr 2020 Disease Papillary cystadenoma of the epididymis Human Phenotype Ontology C4024221 HP:0009715 16 Feb 2016 Finding Papillary cystic neoplasm MONDO C0334357 MONDO:0006349 17 Apr 2020 Disease Papillary ependymoma MONDO C0334578 MONDO:0003475 17 Apr 2020 Disease Papillary epithelial neoplasm MONDO C1335324 MONDO:0021096 17 Apr 2020 Disease Papillary extrahepatic bile duct adenocarcinoma MONDO MONDO:0004039 17 Apr 2020 Disease Papillary glioneuronal tumor MONDO C2985174 MONDO:0016735 17 Apr 2020 Disease Papillary hidradenoma MONDO C0334348 MONDO:0003446 17 Apr 2020 Disease Papillary lung adenocarcinoma MONDO C1335325 MONDO:0006049 17 Apr 2020 Disease Papillary meningioma MONDO C3163622 MONDO:0021088 17 Apr 2020 Disease Papillary meningioma of the cerebellum MONDO C1332902 MONDO:0003261 17 Apr 2020 Disease Papillary renal cell carcinoma Human Phenotype Ontology C1306837 HP:0006766 16 Feb 2016 Disease Papillary renal cell carcinoma type 1 Human Phenotype Ontology C1336839 HP:0011797 16 Feb 2016 Finding Papillary renal cell carcinoma type 2 Human Phenotype Ontology C1336840 HP:0006732 16 Feb 2016 Finding Papillary renal cell carcinoma, sporadic NCBI curation C1336078 02 Mar 2017 Disease Papillary serous cystadenocarcinoma MONDO C3839184 MONDO:0002368 17 Apr 2020 Disease Papillary squamous carcinoma MONDO C0334244 MONDO:0002979 17 Apr 2020 Disease Papillary thymic adenocarcinoma MONDO C1335327 MONDO:0003534 17 Apr 2020 Disease Papillary thyroid carcinoma Human Phenotype Ontology C0238463 HP:0002895 16 Feb 2016 Disease Papillary thyroid microcarcinoma NCBI curation C1709457 603744 16 Feb 2016 Disease Papillary transitional cell carcinoma MONDO C0334274 MONDO:0006350 07 Jun 2020 Disease Papillary tumor of the pineal region MONDO C2985219 MONDO:0016724 17 Apr 2020 Disease Papillary urothelial hyperplasia MONDO C1335328 MONDO:0024485 17 Apr 2020 Disease Papillary urothelial neoplasm MONDO C1335329 MONDO:0003443 17 Apr 2020 Disease Papilledema Human Phenotype Ontology C0030353 HP:0001085 16 Feb 2016 Disease Papilloma Human Phenotype Ontology C0030354 HP:0012740 16 Feb 2016 Finding Papilloma of buccal mucosa MONDO C1332641 MONDO:0021276 17 Apr 2020 Disease Papilloma of eyelid MONDO C1142491 MONDO:0021275 17 Apr 2020 Disease Papillomatosis MONDO C0205875 MONDO:0021098 17 Apr 2020 Disease Papillomatosis papules CN244046 01 Jun 2017 Finding Papillomatosis, confluent and reticulated NCBI curation C0263385 167900 24 Aug 2016 Disease Papillomatosis, florid, of nipple MONDO C1868647 MONDO:0008189 167950 22 Apr 2020 Disease Papillon-Lefèvre syndrome C0030360 245000 16 Feb 2016 Disease Papillorenal syndrome with macular abnormalities NCBI curation C4016304 16 Feb 2016 Disease Papular elastorrhexis MONDO CN226933 MONDO:0016443 17 Apr 2020 Disease Papular mucinosis of infancy MONDO C4273966 MONDO:0019580 17 Apr 2020 Disease Papular urticaria 16 Feb 2016 Disease Papular xanthoma MONDO C4707373 MONDO:0015536 17 Apr 2020 Disease Papule Human Phenotype Ontology C0332563 HP:0200034 16 Feb 2016 Finding Papulosquamous eruptions 29 Aug 2019 Disease Para-Bombay phenotype NCBI curation C1859411 16 Feb 2016 Finding Paracentral scotoma Human Phenotype Ontology C0271197 HP:0030528 16 Feb 2016 Finding Paracetamol poisoning MONDO MONDO:0018741 17 Apr 2020 Disease Parachordoma MONDO C1266175 MONDO:0006351 17 Apr 2020 Disease Parachute mitral valve Human Phenotype Ontology C0546965 HP:0011571 16 Feb 2016 Finding Parachute tricuspid valve MONDO CN227860 MONDO:0020397 17 Apr 2020 Disease Paracoccidioidomycosis C0030409 16 Feb 2016 Infectious disease Paradoxical increased cortisol secretion on dexamethasone suppression test Human Phenotype Ontology C1968855 HP:0003466 16 Feb 2016 Finding Paradoxical myotonia Human Phenotype Ontology C4023179 HP:0011809 16 Feb 2016 Finding Paradoxical respiration Human Phenotype Ontology C0231852 HP:0030207 16 Feb 2016 Finding Paraganglioma Human Phenotype Ontology C0030421 HP:0002668 16 Feb 2016 Disease Paraganglioma of head and neck Human Phenotype Ontology C1333944 HP:0002864 16 Feb 2016 Finding Paragangliomas 1 C1868633 168000 16 Feb 2016 Disease Paragangliomas 1 with sensorineural hearing loss NCBI curation C3276074 28 Jul 2019 Disease Paragangliomas 2 NCBI curation C1866552 601650 16 Feb 2016 Disease Paragangliomas 3 C1854336 605373 16 Feb 2016 Disease Paragangliomas 4 C1861848 115310 16 Feb 2016 Disease Paragangliomas 5 NCBI curation C3279992 614165 16 Feb 2016 Disease PARAGANGLIOMAS 6 OMIM C5193112 618464 618464 23 Jun 2019 Disease PARAGANGLIOMAS 7 OMIM C5193116 618475 618475 26 Jun 2019 Disease Paragangliomas with sensorineural hearing loss NCBI curation 16 Feb 2016 Disease Parageusia Human Phenotype Ontology C0013378 HP:0031249 04 Apr 2018 Finding Parainfluenza virus type 3 16 Feb 2016 Disease Parainfluenza virus type 3 infectious disease MONDO C0276324 MONDO:0042974 04 Jun 2020 Infectious disease Parakeratosis Human Phenotype Ontology C0030436 HP:0001036 16 Feb 2016 Finding Paralysis Human Phenotype Ontology C0522224 HP:0003470 16 Feb 2016 Finding Paralysis periodica paramyotonia NCBI curation 16 Feb 2016 Disease Paralytic facial malformation MONDO CN226689 MONDO:0015499 17 Apr 2020 Disease Paralytic ileus Human Phenotype Ontology C0030446 HP:0002590 16 Feb 2016 Finding Paralytic lagophthalmos Human Phenotype Ontology C0155197 HP:0030003 16 Feb 2016 Finding Paralytic poliomyelitis MONDO C1405301 MONDO:0000341 04 Jun 2020 Infectious disease Paralytic strabismus MONDO C0152221 MONDO:0001143 17 Apr 2020 Disease Paramedian facial cleft Human Phenotype Ontology C4703416 HP:0031571 04 Apr 2018 Finding Paramedian lip pit Human Phenotype Ontology C4022175 HP:0100269 16 Feb 2016 Finding Paramedian nasal cleft MONDO C4759655 MONDO:0015414 17 Apr 2020 Disease Parameningeal embryonal rhabdomyosarcoma MONDO MONDO:0000756 17 Apr 2020 Disease Parametritis MONDO C0030455 MONDO:0006887 17 Apr 2020 Disease Parametrium malignant neoplasm MONDO C0153581 MONDO:0001350 17 Apr 2020 Disease Paramolar tubercle of bolk NCBI curation C0266029 168200 16 Feb 2016 Disease Paramyotonia congenita of von Eulenburg NCBI curation C0221055 168300 16 Feb 2016 Disease Paramyotonia congenita without cold paralysis NCBI curation 16 Feb 2016 Disease Paramyotonia congenita/hyperkalemic periodic paralysis NCBI curation C1858891 16 Feb 2016 Disease Paramyotonia congenita/myotonia congenita NCBI curation C4016868 16 Feb 2016 Disease Paramyxoviridae infectious disease MONDO CN281794 MONDO:0005896 04 Jun 2020 Infectious disease Parana hard-skin syndrome MONDO C1850079 MONDO:0009838 260530 22 Apr 2020 Disease Paranasal sinus adenoid cystic carcinoma MONDO C1335337 MONDO:0006352 17 Apr 2020 Disease Paranasal sinus cancer MONDO MONDO:0020669 17 Apr 2020 Disease Paranasal sinus cancer, adult 16 Feb 2016 Disease Paranasal sinus cancer, childhood 16 Feb 2016 Disease Paranasal sinus carcinoma MONDO C0854995 MONDO:0000380 17 Apr 2020 Disease Paranasal sinus hypoplasia Human Phenotype Ontology C2749161 HP:0006784 16 Feb 2016 Finding Paranasal sinus lymphoma MONDO C1335339 MONDO:0001743 17 Apr 2020 Disease Paranasal sinus mucoepidermoid carcinoma MONDO C1335340 MONDO:0044956 17 Apr 2020 Disease Paranasal sinus neoplasm Human Phenotype Ontology C0030470 HP:0030072 16 Feb 2016 Finding Paranasal sinus sarcoma MONDO C1335342 MONDO:0001758 17 Apr 2020 Disease Paranasal sinus Schneiderian papilloma MONDO C1335343 MONDO:0006353 17 Apr 2020 Disease Paraneoplastic cerebellar degeneration 16 Feb 2016 Disease Paraneoplastic Neurologic Disorders 16 Feb 2016 Disease Paraneoplastic pemphigus MONDO C1112570 MONDO:0018974 17 Apr 2020 Disease Paraneoplastic polyneuropathy MONDO C0270932 MONDO:0006888 17 Apr 2020 Disease Paraneoplastic sensory ganglionopathy MONDO CN229039 MONDO:0016174 17 Apr 2020 Disease Paraneoplastic syndrome MONDO C0030472 MONDO:0021073 17 Apr 2020 Disease Paraneoplastic uveitis MONDO CN229089 MONDO:0017212 17 Apr 2020 Disease Paranoia Human Phenotype Ontology C1456784 HP:0011999 16 Feb 2016 Finding Paranoid personality disorder MONDO C0030477 MONDO:0001163 17 Apr 2020 Disease Paranoid schizophrenia MONDO C0036349 MONDO:0001484 17 Apr 2020 Disease Paraomphalocele C2931431 16 Feb 2016 Disease PARAOXONASE 2 POLYMORPHISM 16 Feb 2016 Disease Paraparesis Human Phenotype Ontology C0221166 HP:0002385 16 Feb 2016 Finding Paraparetic variant of Guillain-Barre syndrome MONDO C4707803 MONDO:0016497 17 Apr 2020 Disease Parapharyngeal meningioma MONDO C1335345 MONDO:0004502 17 Apr 2020 Disease Paraphilic disorder MONDO MONDO:0000596 17 Apr 2020 Disease Paraphimosis Human Phenotype Ontology C0030483 HP:0100588 16 Feb 2016 Finding Paraplegia Human Phenotype Ontology C0030486 HP:0010550 16 Feb 2016 Disease Paraplegia/paraparesis Human Phenotype Ontology C4023792 HP:0010551 16 Feb 2016 Finding Paraproteinemia Human Phenotype Ontology C0030489 HP:0031047 04 Apr 2018 Finding Parapsoriasis C0030491 16 Feb 2016 Disease Paraquat lung 16 Feb 2016 Disease Paraquat poisoning MONDO MONDO:0017862 17 Apr 2020 Disease Parasagittal meningioma MONDO C0751304 MONDO:0004022 17 Apr 2020 Disease Parasitemia MONDO C0242723 MONDO:0024314 04 Jun 2020 Infectious disease Parasitic conjunctivitis MONDO C0155148 MONDO:0001690 17 Apr 2020 Disease Parasitic ectoparasitic infectious disease MONDO C0013578 MONDO:0002875 04 Jun 2020 Infectious disease Parasitic endophthalmitis MONDO C0014238 MONDO:0024315 04 Jun 2020 Infectious disease Parasitic eye infection MONDO C0015406 MONDO:0020947 04 Jun 2020 Infectious disease Parasitic eyelid infestation MONDO C0155183 MONDO:0001812 04 Jun 2020 Infectious disease Parasitic Ichthyosporea infectious disease MONDO CN281924 MONDO:0000307 04 Jun 2020 Infectious disease Parasitic infection MONDO C0747256 MONDO:0005135 04 Jun 2020 Infectious disease Parasitic intestinal disease MONDO C0021832 MONDO:0024270 04 Jun 2020 Infectious disease Parasitic myositis MONDO C0263997 MONDO:0016128 04 Jun 2020 Infectious disease Parasitic skin disease MONDO C0037280 MONDO:0024610 04 Jun 2020 Infectious disease Parasomnia Human Phenotype Ontology C0030508 HP:0025234 02 Apr 2017 Finding Parasomnia, sleep terrors type NCBI curation 16 Feb 2016 Disease Parasomnia, sleeptalking type NCBI curation 16 Feb 2016 Disease Parasomnia, sleepwalking type NCBI curation C3151363 613938 16 Feb 2016 Disease Paraspinal muscle hypertrophy Human Phenotype Ontology C4022689 HP:0012894 16 Feb 2016 Finding Paraspinal neurofibromas Human Phenotype Ontology C4024985 HP:0006751 16 Feb 2016 Finding Parastremmatic dwarfism C1868616 168400 16 Feb 2016 Disease Parasympathetic nervous system disease MONDO MONDO:0044995 17 Apr 2020 Disease Parasympathetic paraganglioma MONDO C0334416 MONDO:0021052 17 Apr 2020 Disease Paratenonitis MONDO MONDO:0100012 17 Apr 2020 Disease Paratenonitis with tendinosis MONDO MONDO:0100013 17 Apr 2020 Disease Paratesticular adenocarcinoma MONDO C5190800 MONDO:0018192 17 Apr 2020 Disease Paratesticular lipoma MONDO C1335348 MONDO:0000976 17 Apr 2020 Disease Parathormone-independent increased renal tubular calcium reabsorption Human Phenotype Ontology C4025604 HP:0003529 16 Feb 2016 Finding Parathyroid adenoma Human Phenotype Ontology C0262587 HP:0002897 16 Feb 2016 Disease Parathyroid adenoma with cystic changes CN259038 13 Jun 2019 Disease Parathyroid adenoma, familial NCBI curation C1840403 16 Feb 2016 Disease Parathyroid adenoma, somatic NCBI curation C2675664 16 Feb 2016 Disease Parathyroid adenomatosis, familial cystic NCBI curation 16 Feb 2016 Disease Parathyroid agenesis Human Phenotype Ontology C1321907 HP:0008211 16 Feb 2016 Finding Parathyroid cancer, childhood 16 Feb 2016 Disease Parathyroid carcinoma Human Phenotype Ontology C0687150 HP:0006780 608266 16 Feb 2016 Disease Parathyroid dysgenesis Human Phenotype Ontology C4023197 HP:0011768 16 Feb 2016 Finding Parathyroid gland clear cell adenoma MONDO C0279700 MONDO:0004303 17 Apr 2020 Disease Parathyroid hyperplasia Human Phenotype Ontology C0271844 HP:0008208 16 Feb 2016 Finding Parathyroid hypoplasia Human Phenotype Ontology C1389851 HP:0000860 16 Feb 2016 Finding Parathyroid oncocytic adenoma MONDO C1335351 MONDO:0004305 17 Apr 2020 Disease Paratuberculosis MONDO C0030524 MONDO:0025449 17 Apr 2020 Disease Paratyphoid fever MONDO C0030528 MONDO:0018626 04 Jun 2020 Infectious disease Paraurethral gland cancer MONDO C0153621 MONDO:0001869 17 Apr 2020 Disease Paraurethral gland neoplasm MONDO C0341766 MONDO:0002219 17 Apr 2020 Disease Paravenous chorioretinal atrophy Human Phenotype Ontology C4072868 HP:0007903 16 Feb 2016 Finding PARC syndrome C1838256 600331 16 Feb 2016 Disease Parenchymatous cortical degeneration of cerebellum 16 Feb 2016 Disease Parenchymatous neurosyphilis MONDO CN281931 MONDO:0000335 04 Jun 2020 Infectious disease Parent had earlier child diedat 14 month. Child had diarrhoea, regression of mile stone after 5 months,at 7 months developed pneumonia and had lost head control at 8 months. MRI showed increase lactate peak and suspected with Leigh syndrome. Parents and prenatal study was carried out for Mitochondrial gene panel NCBI curation 30 Jun 2017 Finding Parental segregation 25 Apr 2019 Finding Parents and elder sibling carrier for c.454T>C (p.Cys152Arg) variant in exon 3 of ASPA gene which results in an autosomal recessive Canavan disease 18 Jul 2018 Finding Parents are carrier for c.454T>C (p.Cys152Arg) in exon 3 of ASPA gene which results in to an autosomal recessive Canavan disease 18 Jul 2018 Finding Parents are carrier for the mutation mutation c.104576G>A (p.Arg34859Gln) in TTN gene. 09 Aug 2018 Finding Paresis of extensor muscles of the big toe Human Phenotype Ontology C4025696 HP:0002601 16 Feb 2016 Finding Paresthesia Human Phenotype Ontology C0030554 HP:0003401 16 Feb 2016 Finding Parietal bossing Human Phenotype Ontology C1857126 HP:0000242 16 Feb 2016 Finding Parietal cortical atrophy Human Phenotype Ontology C4023041 HP:0012104 16 Feb 2016 Finding Parietal encephalocele Human Phenotype Ontology C0431294 HP:0011816 16 Feb 2016 Finding Parietal foramina Human Phenotype Ontology C0222706 HP:0002697 16 Feb 2016 Finding Parietal foramina 1 NCBI curation C1868599 168500 16 Feb 2016 Disease Parietal foramina 2 NCBI curation C1865044 609597 16 Feb 2016 Disease Parietal foramina 3 NCBI curation C1835980 609566 16 Feb 2016 Disease Parietal foramina with cleidocranial dysplasia NCBI curation C1868597 168550 16 Feb 2016 Disease Parietal hypometabolism in FDG PET Human Phenotype Ontology C4022794 HP:0012662 16 Feb 2016 Finding Parietal lobe cancer MONDO C0153637 MONDO:0001952 17 Apr 2020 Disease Parietal lobe ependymal tumor MONDO C4330935 MONDO:0000520 17 Apr 2020 Disease Parietal meningocele Human Phenotype Ontology C4280797 HP:0030730 02 Apr 2017 Finding Parinaud syndrome MONDO C0152222 MONDO:0022220 17 Apr 2020 Disease Paris-Trousseau thrombocytopenia C1956093 188025 16 Feb 2016 Disease PARK3 OMIM C1865581 602404 602404 17 Apr 2020 Disease PARK3 MONDO C1865581 MONDO:0011220 602404 17 Apr 2020 Disease Parkes Weber syndrome CN074207 16 Feb 2016 Disease Parkinson disease OMIM phenotypic series C0030567 PS168600 16 Feb 2016 Disease Parkinson disease 1 NCBI curation C1868595 168601 16 Feb 2016 Disease Parkinson disease 1, autosomal dominant Lewy body NCBI curation 16 Feb 2016 Disease Parkinson disease 10 NCBI curation C1847360 606852 16 Feb 2016 Disease Parkinson disease 11 NCBI curation C4083045 607688 16 Feb 2016 Disease Parkinson disease 12 NCBI curation C1845165 300557 16 Feb 2016 Disease Parkinson disease 13 NCBI curation C1853202 610297 16 Feb 2016 Disease Parkinson disease 14 NCBI curation C2751842 612953 16 Feb 2016 Disease Parkinson disease 15 NCBI curation C1850100 260300 16 Feb 2016 Disease Parkinson disease 16 NCBI curation C2751012 613164 16 Feb 2016 Disease Parkinson disease 17 NCBI curation C3280133 614203 16 Feb 2016 Disease Parkinson disease 18 NCBI curation C3280271 614251 16 Feb 2016 Disease Parkinson disease 19a, juvenile-onset NCBI curation C3809811 615528 24 Aug 2016 Disease Parkinson disease 19b, early-onset NCBI curation CN237819 24 Aug 2016 Disease Parkinson disease 2 NCBI curation C1868675 600116 16 Feb 2016 Disease Parkinson disease 20, early-onset NCBI curation C3809824 615530 16 Feb 2016 Disease Parkinson disease 21 NCBI curation C4225353 616361 16 Feb 2016 Disease Parkinson disease 22, autosomal dominant NCBI curation C4225238 616710 16 Feb 2016 Disease Parkinson disease 23, autosomal recessive early-onset NCBI curation C4225186 616840 26 May 2016 Disease Parkinson disease 4 NCBI curation C1854182 605543 16 Feb 2016 Disease Parkinson disease 5 NCBI curation C3150899 613643 16 Feb 2016 Disease Parkinson disease 5, susceptibility to CN260065 19 Jun 2019 Disease Parkinson disease 6 NCBI curation C1970035 16 Feb 2016 Disease Parkinson disease 6, autosomal recessive early-onset NCBI curation C1853833 605909 16 Feb 2016 Disease Parkinson disease 7 NCBI curation C1853445 606324 16 Feb 2016 Disease Parkinson disease 8, autosomal dominant NCBI curation C1846862 607060 16 Feb 2016 Disease Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 NCBI curation CN043330 16 Feb 2016 Disease Parkinson Disease, Dominant CN239359 02 Dec 2016 Disease Parkinson Disease, Dominant/Recessive CN239308 02 Dec 2016 Disease Parkinson Disease, Juvenile C0752105 02 Dec 2016 Disease Parkinson disease, juvenile, type 2 CN260066 19 Jun 2019 Disease Parkinson disease, late-onset NCBI curation C3160718 168600 16 Feb 2016 Disease Parkinson disease, mitochondrial NCBI curation C1838867 556500 16 Feb 2016 Disease Parkinson Disease, Recessive CN239372 02 Dec 2016 Disease Parkinson disease, resistance to NCBI curation C4016597 16 Feb 2016 Disease Parkinson-dementia syndrome NCBI curation C1850077 260540 16 Feb 2016 Disease Parkinsonian disorder MONDO MONDO:0021095 17 Apr 2020 Disease Parkinsonian syndrome due to neurodegenerative disease MONDO CN203530 MONDO:0017635 17 Apr 2020 Disease Parkinsonism Human Phenotype Ontology C0242422 HP:0001300 16 Feb 2016 Finding Parkinsonism due to ATP13A2 deficiency MONDO CN203776 MONDO:0017809 17 Apr 2020 Disease Parkinsonism with favorable response to dopaminergic medication Human Phenotype Ontology C1846868 HP:0002548 16 Feb 2016 Finding Parkinsonism with spasticity, X-linked NCBI curation C3806722 300911 16 Feb 2016 Disease Parkinsonism-dystonia, infantile, 1 NCBI curation C4747621 613135 30 Dec 2019 Disease Parkinsonism-dystonia, infantile, 2 NCBI curation C4747991 618049 30 Dec 2019 Disease Parkinsonism-plus CN239817 30 Dec 2016 Disease Parkinsonism/MELAS overlap syndrome NCBI curation C4016600 16 Feb 2016 Disease Parkinsonism; seizures; bipolar affective disorder; borderline personality disorder; dysmorphic facial features 16 Feb 2016 Finding Paronychia Human Phenotype Ontology C0030578 HP:0001818 16 Feb 2016 Finding Parotid aplasia or hypoplasia NCBI curation 16 Feb 2016 Disease Parotid disease MONDO C0030579 MONDO:0005899 17 Apr 2020 Disease Parotid gland acinic cell carcinoma MONDO C1335353 MONDO:0006355 17 Apr 2020 Disease Parotid gland adenoid cystic carcinoma MONDO C1335355 MONDO:0006356 17 Apr 2020 Disease Parotid gland cancer MONDO C0747273 MONDO:0004700 17 Apr 2020 Disease Parotid gland carcinoma ex pleomorphic adenoma MONDO C1335356 MONDO:0006357 17 Apr 2020 Disease Parotid gland neoplasm MONDO C0030581 MONDO:0021243 17 Apr 2020 Disease Parotid gland squamous cell carcinoma MONDO C1335367 MONDO:0006358 17 Apr 2020 Disease Parotid salivary glands, polycystic dysgenetic disease of NCBI curation C3551133 600343 24 Aug 2016 Disease Parotidomegaly, hereditary bilateral NCBI curation C1868590 168800 16 Feb 2016 Disease Parotitis Human Phenotype Ontology C0030583 HP:0011850 16 Feb 2016 Finding Parotitis, juvenile recurrent NCBI curation C1863691 603588 16 Feb 2016 Disease Parovarian cyst MONDO C0030584 MONDO:0002965 17 Apr 2020 Disease Paroxetine response NCBI curation CN221255 16 Feb 2016 Pharmacological response paroxetine response - Efficacy PharmGKB CN236573 1183617724 18 May 2016 Pharmacological response paroxysmal 05 Sep 2019 Finding Paroxysmal atrial fibrillation Human Phenotype Ontology C0235480 HP:0004757 16 Feb 2016 Finding Paroxysmal atrial tachycardia Human Phenotype Ontology C0030587 HP:0006671 16 Feb 2016 Finding Paroxysmal bursts of laughter Human Phenotype Ontology C1839749 HP:0000749 16 Feb 2016 Finding Paroxysmal choreoathetosis Human Phenotype Ontology C1851936 HP:0007098 16 Feb 2016 Finding Paroxysmal cold hemoglobinuria C0086774 16 Feb 2016 Disease Paroxysmal drowsiness Human Phenotype Ontology C4025713 HP:0002330 16 Feb 2016 Finding Paroxysmal dyskinesia Human Phenotype Ontology C0752210 HP:0007166 16 Feb 2016 Finding Paroxysmal dyspnea Human Phenotype Ontology C0013405 HP:0012763 16 Feb 2016 Finding Paroxysmal dystonia Human Phenotype Ontology C0393588 HP:0002268 16 Feb 2016 Finding Paroxysmal episodes CN234400 16 Feb 2016 Finding Paroxysmal extreme pain disorder NCBI curation C1833661 167400 16 Feb 2016 Disease Paroxysmal familial ventricular fibrillation NCBI curation C0340493 05 Sep 2016 Disease Paroxysmal familial ventricular fibrillation 1 NCBI curation C2751898 603829 05 Sep 2016 Disease Paroxysmal Hemicrania MONDO C1399352 MONDO:0015529 17 Apr 2020 Disease Paroxysmal involuntary eye movements Human Phenotype Ontology C1847515 HP:0007704 16 Feb 2016 Finding Paroxysmal kinesigenic dyskinesia Orphanet C1868682 ORPHA98809 22 Jan 2017 Disease Paroxysmal lethargy Human Phenotype Ontology C1847507 HP:0011973 16 Feb 2016 Finding Paroxysmal nocturnal hemoglobinuria OMIM phenotypic series C0024790 PS300818 16 Feb 2016 Disease Paroxysmal nocturnal hemoglobinuria Human Phenotype Ontology C0024790 HP:0004818 16 Feb 2016 Disease Paroxysmal nocturnal hemoglobinuria 1 NCBI curation C3806670 300818 16 Feb 2016 Disease Paroxysmal nocturnal hemoglobinuria 2 NCBI curation C3809369 615399 16 Feb 2016 Disease Paroxysmal non-kinesigenic dyskinesia Orphanet C1869117 ORPHA98810 08 Oct 2018 Disease Paroxysmal nonkinesigenic dyskinesia 1 NCBI curation C4551506 118800 08 Oct 2018 Disease Paroxysmal nonkinesigenic dyskinesia 2 NCBI curation C1970149 611147 16 Feb 2016 Disease Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy NCBI curation C1836173 609446 30 Mar 2020 Disease Paroxysmal ocular dyskinesia C0271396 18 Jan 2019 Finding Paroxysmal sneezing Human Phenotype Ontology C0858634 HP:0025096 02 Apr 2017 Finding Paroxysmal superventricular tachcardia CN235531 15 Mar 2016 Finding Paroxysmal supraventricular tachycardia Human Phenotype Ontology C0030590 HP:0004763 16 Feb 2016 Finding Paroxysmal tachycardia Human Phenotype Ontology C0039236 HP:0006688 16 Feb 2016 Finding paroxysmal tonic upgaze syndrome 05 Sep 2019 Finding Paroxysmal tonic upgaze, benign childhood, with ataxia NCBI curation C1868576 168885 16 Feb 2016 Disease Paroxysmal ventricular tachycardia Human Phenotype Ontology C0030591 HP:0004751 16 Feb 2016 Finding Paroxysmal vertigo Human Phenotype Ontology C0522357 HP:0010532 16 Feb 2016 Finding PARP Inhibitor response CN240833 03 Mar 2017 Pharmacological response Pars planitis C0030593 606177 16 Feb 2016 Disease PARS2-related disorder 07 Dec 2018 Disease Parsonage Turner syndrome 16 Feb 2016 Disease Partial abdominal muscle agenesis Human Phenotype Ontology C4025228 HP:0005243 16 Feb 2016 Finding Partial absence of cerebellar vermis Human Phenotype Ontology C4025667 HP:0002951 16 Feb 2016 Finding Partial absence of finger Human Phenotype Ontology C4023423 HP:0011299 16 Feb 2016 Finding Partial absence of foot Human Phenotype Ontology C4022666 HP:0030032 16 Feb 2016 Finding Partial absence of the septum pellucidum Human Phenotype Ontology C1827299 HP:0030283 16 Feb 2016 Finding Partial absence of thumb Human Phenotype Ontology C4024255 HP:0009659 16 Feb 2016 Finding Partial absence of toe Human Phenotype Ontology C4021169 HP:0011305 16 Feb 2016 Finding partial ACC CN238707 19 Oct 2016 Finding Partial adenosine deaminase deficiency NCBI curation C1863239 16 Feb 2016 Disease Partial agenesis of corpus callosum C0431368 16 Feb 2016 Disease Partial agenesis of the corpus callosum Human Phenotype Ontology C1857278 HP:0001338 16 Feb 2016 Finding Partial albinism Human Phenotype Ontology C0080024 HP:0007443 172800 16 Feb 2016 Disease Partial androgen insensitivity syndrome Orphanet C0268301 ORPHA90797 312300 13 Aug 2017 Disease Partial aniridia Human Phenotype Ontology HP:0011498 16 Feb 2016 Finding Partial anomalous pulmonary venous return Human Phenotype Ontology C0158634 HP:0010773 16 Feb 2016 Finding Partial anomalous pulmonary venous return to the inferior vena cava 28 Jun 2019 Finding Partial anosmia Human Phenotype Ontology C4023767 HP:0010633 16 Feb 2016 Finding Partial arterial retinal occlusion MONDO C0154839 MONDO:0001985 17 Apr 2020 Disease Partial atrioventricular canal defect Human Phenotype Ontology C4023290 HP:0011577 16 Feb 2016 Finding Partial autosomal monosomy MONDO CN227745 MONDO:0020054 17 Apr 2020 Disease Partial autosomal trisomy/tetrasomy MONDO CN229261 MONDO:0020052 17 Apr 2020 Disease Partial beta-EEG Human Phenotype Ontology C4023492 HP:0011180 16 Feb 2016 Finding Partial bilateral aplasia of the mullerian ducts MONDO CN262034 MONDO:0015830 17 Apr 2020 Disease Partial central choroid dystrophy MONDO C0339427 MONDO:0004890 17 Apr 2020 Disease Partial chromosome Y deletion MONDO C1507149 MONDO:0015607 17 Apr 2020 Disease Partial circumpapillary choroid dystrophy MONDO C0154895 MONDO:0004888 17 Apr 2020 Disease Partial complement factor H deficiency Human Phenotype Ontology C4024708 HP:0008290 16 Feb 2016 Finding Partial congenital absence of teeth NCBI curation C0020608 16 Feb 2016 Disease Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome MONDO C4750913 MONDO:0018430 17 Apr 2020 Disease Partial cryptophthalmia MONDO CN207212 MONDO:0020361 17 Apr 2020 Disease Partial deletion of chromosome 1 MONDO CN227009 MONDO:0016866 17 Apr 2020 Disease Partial deletion of chromosome 10 MONDO CN227018 MONDO:0016875 17 Apr 2020 Disease Partial deletion of chromosome 11 MONDO CN227019 MONDO:0016876 17 Apr 2020 Disease Partial deletion of chromosome 12 MONDO CN227105 MONDO:0017277 17 Apr 2020 Disease Partial deletion of chromosome 16 MONDO CN227021 MONDO:0016878 17 Apr 2020 Disease Partial deletion of chromosome 17 MONDO CN227022 MONDO:0016879 17 Apr 2020 Disease Partial deletion of chromosome 18 MONDO CN227023 MONDO:0016880 17 Apr 2020 Disease Partial deletion of chromosome 19 MONDO CN227024 MONDO:0016881 17 Apr 2020 Disease Partial deletion of chromosome 2 MONDO CN227010 MONDO:0016867 17 Apr 2020 Disease Partial deletion of chromosome 20 MONDO CN227025 MONDO:0016882 17 Apr 2020 Disease Partial deletion of chromosome 3 MONDO CN227011 MONDO:0016868 17 Apr 2020 Disease Partial deletion of chromosome 4 MONDO CN227012 MONDO:0016869 17 Apr 2020 Disease Partial deletion of chromosome 5 MONDO CN227013 MONDO:0016870 17 Apr 2020 Disease Partial deletion of chromosome 6 MONDO CN227014 MONDO:0016871 17 Apr 2020 Disease Partial deletion of chromosome 7 MONDO CN227015 MONDO:0016872 17 Apr 2020 Disease Partial deletion of chromosome 8 MONDO CN227016 MONDO:0016873 17 Apr 2020 Disease Partial deletion of chromosome 9 MONDO CN227017 MONDO:0016874 17 Apr 2020 Disease Partial deletion of chromosome X MONDO CN227063 MONDO:0017003 17 Apr 2020 Disease Partial deletion of the long arm of chromosome 1 MONDO CN202222 MONDO:0016900 17 Apr 2020 Disease Partial deletion of the long arm of chromosome 11 MONDO CN035778 MONDO:0016910 17 Apr 2020 Disease Partial deletion of the long arm of chromosome 12 MONDO CN227020 MONDO:0016877 17 Apr 2020 Disease Partial deletion of the long arm of chromosome 14 MONDO CN227038 MONDO:0016912 17 Apr 2020 Disease Partial deletion of the long arm of chromosome 15 MONDO CN202231 MONDO:0016913 17 Apr 2020 Disease Partial deletion of the long arm of chromosome 16 MONDO CN202232 MONDO:0016914 17 Apr 2020 Disease Partial deletion of the long arm of chromosome 17 MONDO CN227039 MONDO:0016915 17 Apr 2020 Disease Partial deletion of the long arm of chromosome 18 MONDO C0265472 MONDO:0016916 17 Apr 2020 Disease Partial deletion of the long arm of chromosome 19 MONDO CN227041 MONDO:0016917 17 Apr 2020 Disease Partial deletion of the long arm of chromosome 2 MONDO C0795804 MONDO:0016901 17 Apr 2020 Disease Partial deletion of the long arm of chromosome 20 MONDO CN227042 MONDO:0016918 17 Apr 2020 Disease Partial deletion of the long arm of chromosome 21 MONDO CN202233 MONDO:0016919 17 Apr 2020 Disease Partial deletion of the long arm of chromosome 22 MONDO CN202234 MONDO:0016920 17 Apr 2020 Disease Partial deletion of the long arm of chromosome 3 MONDO CN227035 MONDO:0016902 17 Apr 2020 Disease Partial deletion of the long arm of chromosome 4 MONDO C0265404 MONDO:0016903 17 Apr 2020 Disease Partial deletion of the long arm of chromosome 5 MONDO CN227036 MONDO:0016904 17 Apr 2020 Disease Partial deletion of the long arm of chromosome 6 MONDO C0795816 MONDO:0016905 17 Apr 2020 Disease Partial deletion of the long arm of chromosome 7 MONDO CN202224 MONDO:0016906 17 Apr 2020 Disease Partial deletion of the long arm of chromosome 8 MONDO C0795828 MONDO:0016907 17 Apr 2020 Disease Partial deletion of the long arm of chromosome X MONDO CN227067 MONDO:0017007 17 Apr 2020 Disease Partial deletion of the short arm of chromosome 1 MONDO C0795796 MONDO:0016883 17 Apr 2020 Disease Partial deletion of the short arm of chromosome 10 Orphanet C0795836 ORPHA261938 16 Feb 2016 Disease Partial deletion of the short arm of chromosome 11 MONDO CN202220 MONDO:0016893 17 Apr 2020 Disease Partial deletion of the short arm of chromosome 12 MONDO CN203834 MONDO:0017848 17 Apr 2020 Disease Partial deletion of the short arm of chromosome 16 MONDO CN227029 MONDO:0016894 17 Apr 2020 Disease Partial deletion of the short arm of chromosome 18 MONDO CN202221 MONDO:0016896 17 Apr 2020 Disease Partial deletion of the short arm of chromosome 19 MONDO CN227031 MONDO:0016897 17 Apr 2020 Disease Partial deletion of the short arm of chromosome 2 MONDO CN227026 MONDO:0016884 17 Apr 2020 Disease Partial deletion of the short arm of chromosome 3 MONDO CN202213 MONDO:0016885 17 Apr 2020 Disease Partial deletion of the short arm of chromosome 4 MONDO CN202214 MONDO:0016886 17 Apr 2020 Disease Partial deletion of the short arm of chromosome 5 MONDO CN227027 MONDO:0016887 17 Apr 2020 Disease Partial deletion of the short arm of chromosome 6 MONDO CN227028 MONDO:0016888 17 Apr 2020 Disease Partial deletion of the short arm of chromosome 7 MONDO CN202216 MONDO:0016889 17 Apr 2020 Disease Partial deletion of the short arm of chromosome 8 MONDO CN202217 MONDO:0016890 17 Apr 2020 Disease Partial deletion of the short arm of chromosome 9 MONDO CN202218 MONDO:0016891 17 Apr 2020 Disease Partial deletion of Y CN037103 16 Feb 2016 Disease Partial development of the penile shaft Human Phenotype Ontology C1837379 HP:0008708 16 Feb 2016 Finding Partial diaphragmatic absence of pericardium Human Phenotype Ontology C4023254 HP:0011635 16 Feb 2016 Finding Partial duplication of chromosome 1 MONDO C4518488 MONDO:0016921 17 Apr 2020 Disease Partial duplication of chromosome 10 MONDO C4518498 MONDO:0016931 17 Apr 2020 Disease Partial duplication of chromosome 11 MONDO C4518499 MONDO:0016932 17 Apr 2020 Disease Partial duplication of chromosome 12 MONDO MONDO:0042968 17 Apr 2020 Disease Partial duplication of chromosome 16 MONDO C4518504 MONDO:0016934 17 Apr 2020 Disease Partial duplication of chromosome 17 MONDO C4518505 MONDO:0016935 17 Apr 2020 Disease Partial duplication of chromosome 19 MONDO C4518507 MONDO:0016937 17 Apr 2020 Disease Partial duplication of chromosome 2 MONDO C4518490 MONDO:0016922 17 Apr 2020 Disease Partial duplication of chromosome 3 MONDO C4518491 MONDO:0016923 17 Apr 2020 Disease Partial duplication of chromosome 4 MONDO C4518492 MONDO:0016924 17 Apr 2020 Disease Partial duplication of chromosome 6 MONDO C4518495 MONDO:0016927 17 Apr 2020 Disease Partial duplication of chromosome 7 MONDO C4518496 MONDO:0016928 17 Apr 2020 Disease Partial duplication of chromosome 8 MONDO C2931671 MONDO:0016929 17 Apr 2020 Disease Partial duplication of chromosome X MONDO CN227068 MONDO:0017008 17 Apr 2020 Disease Partial duplication of eyebrows Human Phenotype Ontology C4022396 HP:0045018 16 Feb 2016 Finding Partial duplication of phalanx of the 2nd toe Human Phenotype Ontology C4023831 HP:0010428 16 Feb 2016 Finding Partial duplication of the 1st metatarsal Human Phenotype Ontology C4024049 HP:0010099 16 Feb 2016 Finding Partial duplication of the distal phalanges of the hand Human Phenotype Ontology C4021348 HP:0010004 16 Feb 2016 Finding Partial duplication of the distal phalanx of the 2nd finger Human Phenotype Ontology C4021365 HP:0009951 16 Feb 2016 Finding Partial duplication of the distal phalanx of the 2nd toe Human Phenotype Ontology C4023834 HP:0010425 16 Feb 2016 Finding Partial duplication of the distal phalanx of the 3rd finger Human Phenotype Ontology C4021360 HP:0009968 16 Feb 2016 Finding Partial duplication of the distal phalanx of the 3rd toe Human Phenotype Ontology C4020983 HP:0100416 16 Feb 2016 Finding Partial duplication of the distal phalanx of the 4th finger Human Phenotype Ontology C4021355 HP:0009981 16 Feb 2016 Finding Partial duplication of the distal phalanx of the 4th toe Human Phenotype Ontology C4020982 HP:0100417 16 Feb 2016 Finding Partial duplication of the distal phalanx of the 5th finger Human Phenotype Ontology C4021350 HP:0009994 16 Feb 2016 Finding Partial duplication of the distal phalanx of the 5th toe Human Phenotype Ontology C4020981 HP:0100418 16 Feb 2016 Finding Partial duplication of the distal phalanx of the hallux Human Phenotype Ontology C4021337 HP:0010097 16 Feb 2016 Finding Partial duplication of the long arm of chromosome 10 MONDO CN202259 MONDO:0016961 17 Apr 2020 Disease Partial duplication of the long arm of chromosome 11 MONDO CN202260 MONDO:0016962 17 Apr 2020 Disease Partial duplication of the long arm of chromosome 12 MONDO C0795846 MONDO:0042969 17 Apr 2020 Disease Partial duplication of the long arm of chromosome 13 MONDO CN202261 MONDO:0016963 17 Apr 2020 Disease Partial duplication of the long arm of chromosome 14 MONDO CN202262 MONDO:0016964 17 Apr 2020 Disease Partial duplication of the long arm of chromosome 15 MONDO C0795858 MONDO:0016965 17 Apr 2020 Disease Partial duplication of the long arm of chromosome 17 MONDO CN035860 MONDO:0016967 17 Apr 2020 Disease Partial duplication of the long arm of chromosome 19 MONDO C0795871 MONDO:0016969 17 Apr 2020 Disease Partial duplication of the long arm of chromosome 2 MONDO C0795805 MONDO:0016953 17 Apr 2020 Disease Partial duplication of the long arm of chromosome 22 MONDO CN202270 MONDO:0016972 17 Apr 2020 Disease Partial duplication of the long arm of chromosome 3 MONDO C0795809 MONDO:0016954 17 Apr 2020 Disease Partial duplication of the long arm of chromosome 4 MONDO C0795812 MONDO:0016955 17 Apr 2020 Disease Partial duplication of the long arm of chromosome 6 MONDO CN202255 MONDO:0016957 17 Apr 2020 Disease Partial duplication of the long arm of chromosome 7 MONDO C0795821 MONDO:0016958 17 Apr 2020 Disease Partial duplication of the long arm of chromosome 8 MONDO CN202257 MONDO:0016959 17 Apr 2020 Disease Partial duplication of the long arm of chromosome X MONDO C0795891 MONDO:0017010 17 Apr 2020 Disease Partial duplication of the middle phalanges of the hand Human Phenotype Ontology C4024115 HP:0010005 16 Feb 2016 Finding Partial duplication of the middle phalanx of the 2nd finger Human Phenotype Ontology C4024149 HP:0009953 16 Feb 2016 Finding Partial duplication of the middle phalanx of the 2nd toe Human Phenotype Ontology C4023832 HP:0010427 16 Feb 2016 Finding Partial duplication of the middle phalanx of the 3rd finger Human Phenotype Ontology C4024138 HP:0009969 16 Feb 2016 Finding Partial duplication of the middle phalanx of the 3rd toe Human Phenotype Ontology C4020980 HP:0100419 16 Feb 2016 Finding Partial duplication of the middle phalanx of the 4th finger Human Phenotype Ontology C4024130 HP:0009982 16 Feb 2016 Finding Partial duplication of the middle phalanx of the 4th toe Human Phenotype Ontology C4020979 HP:0100420 16 Feb 2016 Finding Partial duplication of the middle phalanx of the 5th finger Human Phenotype Ontology C4024123 HP:0009995 16 Feb 2016 Finding Partial duplication of the middle phalanx of the 5th toe Human Phenotype Ontology C4020978 HP:0100421 16 Feb 2016 Finding Partial duplication of the phalanges of the 2nd finger Human Phenotype Ontology C4024146 HP:0009956 16 Feb 2016 Finding Partial duplication of the phalanges of the 3rd finger Human Phenotype Ontology C4024142 HP:0009961 16 Feb 2016 Finding Partial duplication of the phalanges of the 4th finger Human Phenotype Ontology C4024134 HP:0009974 16 Feb 2016 Finding Partial duplication of the phalanges of the 5th finger Human Phenotype Ontology C4024127 HP:0009987 16 Feb 2016 Finding Partial duplication of the phalanges of the hallux Human Phenotype Ontology C1855005 HP:0010101 16 Feb 2016 Finding Partial duplication of the phalanx of hand Human Phenotype Ontology C4024120 HP:0009999 16 Feb 2016 Finding Partial duplication of the proximal phalanges of the hand Human Phenotype Ontology C4024116 HP:0010003 16 Feb 2016 Finding Partial duplication of the proximal phalanx of the 2nd finger Human Phenotype Ontology C4024147 HP:0009955 16 Feb 2016 Finding Partial duplication of the proximal phalanx of the 2nd toe Human Phenotype Ontology C4021270 HP:0010423 16 Feb 2016 Finding Partial duplication of the proximal phalanx of the 3rd finger Human Phenotype Ontology C4024137 HP:0009970 16 Feb 2016 Finding Partial duplication of the proximal phalanx of the 3rd toe Human Phenotype Ontology C4020977 HP:0100422 16 Feb 2016 Finding Partial duplication of the proximal phalanx of the 4th finger Human Phenotype Ontology C4024129 HP:0009983 16 Feb 2016 Finding Partial duplication of the proximal phalanx of the 4th toe Human Phenotype Ontology C4022103 HP:0100423 16 Feb 2016 Finding Partial duplication of the proximal phalanx of the 5th finger Human Phenotype Ontology C4024122 HP:0009996 16 Feb 2016 Finding Partial duplication of the proximal phalanx of the 5th toe Human Phenotype Ontology C4020976 HP:0100424 16 Feb 2016 Finding Partial duplication of the proximal phalanx of the hallux Human Phenotype Ontology C4024052 HP:0010095 16 Feb 2016 Finding Partial duplication of the short arm of chromosome 1 MONDO CN227071 MONDO:0017012 17 Apr 2020 Disease Partial duplication of the short arm of chromosome 10 MONDO CN202246 MONDO:0016947 17 Apr 2020 Disease Partial duplication of the short arm of chromosome 11 MONDO CN202247 MONDO:0016948 17 Apr 2020 Disease Partial duplication of the short arm of chromosome 16 MONDO C0795861 MONDO:0016949 17 Apr 2020 Disease Partial duplication of the short arm of chromosome 17 MONDO CN202249 MONDO:0016950 17 Apr 2020 Disease Partial duplication of the short arm of chromosome 19 MONDO CN237721 MONDO:0018659 17 Apr 2020 Disease Partial duplication of the short arm of chromosome 2 MONDO C0795803 MONDO:0016939 17 Apr 2020 Disease Partial duplication of the short arm of chromosome 3 MONDO CN202239 MONDO:0016940 17 Apr 2020 Disease Partial duplication of the short arm of chromosome 4 MONDO CN202240 MONDO:0016941 17 Apr 2020 Disease Partial duplication of the short arm of chromosome 6 MONDO CN036641 MONDO:0016943 17 Apr 2020 Disease Partial duplication of the short arm of chromosome 7 MONDO C0795820 MONDO:0016944 17 Apr 2020 Disease Partial duplication of the short arm of chromosome 8 MONDO CN202244 MONDO:0016945 17 Apr 2020 Disease Partial duplication of the short arm of chromosome X MONDO CN227069 MONDO:0017009 17 Apr 2020 Disease Partial duplication of thumb phalanx Human Phenotype Ontology C4082168 HP:0009944 16 Feb 2016 Finding partial epilepsy 14 Mar 2019 Finding Partial fetal alcohol syndrome MONDO C3661483 MONDO:0000393 17 Apr 2020 Disease Partial functional complement factor D deficiency Human Phenotype Ontology C4024699 HP:0008338 16 Feb 2016 Finding Partial fusion of carpals Human Phenotype Ontology C1844519 HP:0006207 16 Feb 2016 Finding Partial fusion of proximal row of carpal bones Human Phenotype Ontology C3152021 HP:0005694 16 Feb 2016 Finding Partial fusion of tarsals Human Phenotype Ontology C1844520 HP:0008097 16 Feb 2016 Finding Partial hydatidiform mole MONDO C0334529 MONDO:0016786 17 Apr 2020 Disease Partial hyposmia Human Phenotype Ontology C4023765 HP:0010635 16 Feb 2016 Finding Partial hypoxanthine-guanine phosphoribosyltransferase deficiency C0268117 300323 16 Feb 2016 Disease Partial IgA deficiency Human Phenotype Ontology C4023167 HP:0011837 16 Feb 2016 Finding Partial left sided absence of pericardium Human Phenotype Ontology C4023255 HP:0011634 16 Feb 2016 Finding Partial lipodystrophy MONDO C4316789 MONDO:0027767 17 Apr 2020 Disease Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome NCBI curation C3807567 606721 24 Aug 2016 Disease Partial lipodystrophy, Dunnigan CN221589 16 Feb 2016 Disease Partial lissencephaly C2931166 16 Feb 2016 Disease partial monosomy 16q C0795862 19 Oct 2016 Finding Partial monosomy of the long arm of chromosome 10 MONDO C0795839 MONDO:0016909 17 Apr 2020 Disease Partial monosomy of the long arm of chromosome 9 MONDO CN202226 MONDO:0016908 17 Apr 2020 Disease Partial monosomy of the short arm of chromosome 17 MONDO CN227030 MONDO:0016895 17 Apr 2020 Disease Partial monosomy of the short arm of chromosome 20 MONDO CN036364 MONDO:0016898 17 Apr 2020 Disease Partial monosomy of the short arm of chromosome X MONDO CN227064 MONDO:0017004 17 Apr 2020 Disease Partial motor epilepsy MONDO MONDO:0006891 17 Apr 2020 Disease Partial optic atrophy MONDO C0155295 MONDO:0001086 17 Apr 2020 Disease Partial or total retinal detachment C1851404 16 Feb 2016 Finding partial rectal prolapse 05 Sep 2019 Finding Partial retinal vein occlusion MONDO C0271080 MONDO:0002088 17 Apr 2020 Disease Partial RhD 20 Jun 2019 Disease Partial right sided absence of pericardium Human Phenotype Ontology C4023257 HP:0011632 16 Feb 2016 Finding partial sensorineural deafness CN220453 16 Feb 2016 Finding Partial sensory epilepsy MONDO MONDO:0006892 17 Apr 2020 Disease Partial septate uterus MONDO C0266401 MONDO:0015841 17 Apr 2020 Disease Partial third-nerve palsy MONDO C0271370 MONDO:0001144 17 Apr 2020 Disease Partial trisomy of chromosome 20 MONDO C4518509 MONDO:0016938 17 Apr 2020 Disease Partial trisomy of the long arm of chromosome 16 MONDO CN036363 MONDO:0016966 17 Apr 2020 Disease Partial trisomy of the long arm of chromosome 18 MONDO C0809935 MONDO:0016968 17 Apr 2020 Disease Partial trisomy of the long arm of chromosome 20 MONDO CN202268 MONDO:0016970 17 Apr 2020 Disease Partial trisomy of the long arm of chromosome 5 MONDO C1802398 MONDO:0016956 17 Apr 2020 Disease Partial trisomy of the long arm of chromosome 9 MONDO CN202258 MONDO:0016960 17 Apr 2020 Disease Partial trisomy of the short arm of chromosome 9 MONDO CN202245 MONDO:0016946 17 Apr 2020 Disease Partial trisomy/tetrasomy of chromosome 18 MONDO CN227055 MONDO:0016936 17 Apr 2020 Disease Partial trisomy/tetrasomy of chromosome 5 MONDO CN227047 MONDO:0016925 17 Apr 2020 Disease Partial trisomy/tetrasomy of chromosome 9 MONDO CN202236 MONDO:0016930 17 Apr 2020 Disease Partial trisomy/tetrasomy of the short arm of chromosome 12 MONDO CN202237 MONDO:0016933 17 Apr 2020 Disease Partial trisomy/tetrasomy of the short arm of chromosome 18 MONDO CN202250 MONDO:0016951 17 Apr 2020 Disease Partial trisomy/tetrasomy of the short arm of chromosome 5 MONDO CN202241 MONDO:0016942 17 Apr 2020 Disease Partial vaginal septum Human Phenotype Ontology C0750088 HP:0008670 16 Feb 2016 Finding Partial-complete absence of 5th phalanges Human Phenotype Ontology C1867928 HP:0006209 16 Feb 2016 Finding Partially duplicated kidney Human Phenotype Ontology C4024630 HP:0008738 16 Feb 2016 Finding Partially involuting congenital hemangioma MONDO C4733501 MONDO:0018716 17 Apr 2020 Disease Partington syndrome MONDO C0796250 MONDO:0010654 309510 17 Apr 2020 Disease Partington-Anderson syndrome MONDO C1850075 MONDO:0009840 260555 22 Apr 2020 Disease Parvoviridae infectious disease MONDO CN281886 MONDO:0025371 04 Jun 2020 Infectious disease Parvovirus antenatal infection 16 Feb 2016 Disease Pascual Castroviejo syndrome 16 Feb 2016 Disease Passive dorsiflexion of the 5th finger more than 90 degrees Human Phenotype Ontology C4531061 HP:0031534 04 Apr 2018 Finding Passos-Bueno syndrome 16 Feb 2016 Disease Passovoy factor defect NCBI curation C3149707 168830 16 Feb 2016 Disease Pasteurella hemorrhagic septicemia MONDO CN281657 MONDO:0006893 04 Jun 2020 Infectious disease Pasteurella multocida infection 16 Feb 2016 Disease Pasteurella multocida infectious disease MONDO C1260911 MONDO:0040998 04 Jun 2020 Infectious disease Pasteurellosis MONDO C0030636 MONDO:0005901 04 Jun 2020 Infectious disease Patchy alopecia Human Phenotype Ontology C1862862 HP:0002232 16 Feb 2016 Finding Patchy atrophy of the retinal pigment epithelium Human Phenotype Ontology C4024800 HP:0007791 16 Feb 2016 Finding Patchy changes of bone mineral density Human Phenotype Ontology C4023754 HP:0010658 16 Feb 2016 Finding Patchy demyelination of subcortical white matter Human Phenotype Ontology C1857638 HP:0002545 16 Feb 2016 Finding Patchy distortion of vertebrae Human Phenotype Ontology C4025305 HP:0004609 16 Feb 2016 Finding Patchy hypo- and hyperpigmentation Human Phenotype Ontology C4021573 HP:0007509 16 Feb 2016 Finding Patchy hypopigmentation of hair Human Phenotype Ontology C4023395 HP:0011365 16 Feb 2016 Finding Patchy osteosclerosis Human Phenotype Ontology C1855845 HP:0005686 16 Feb 2016 Finding Patchy palmoplantar keratoderma Human Phenotype Ontology C4021633 HP:0005588 16 Feb 2016 Finding Patchy reduction of bone mineral density Human Phenotype Ontology C4023755 HP:0010657 16 Feb 2016 Finding Patchy sclerosis of 2nd finger phalanx Human Phenotype Ontology C4021442 HP:0009551 16 Feb 2016 Finding Patchy sclerosis of 2nd toe phalanx Human Phenotype Ontology C4021287 HP:0010352 16 Feb 2016 Finding Patchy sclerosis of 3rd finger phalanx Human Phenotype Ontology C4021471 HP:0009444 16 Feb 2016 Finding Patchy sclerosis of 3rd toe phalanx Human Phenotype Ontology C4021283 HP:0010364 16 Feb 2016 Finding Patchy sclerosis of 4th finger phalanx Human Phenotype Ontology C4021481 HP:0009406 16 Feb 2016 Finding Patchy sclerosis of 4th toe phalanx Human Phenotype Ontology C4021279 HP:0010376 16 Feb 2016 Finding Patchy sclerosis of 5th finger phalanx Human Phenotype Ontology C4021484 HP:0009377 16 Feb 2016 Finding Patchy sclerosis of 5th toe phalanx Human Phenotype Ontology C4021275 HP:0010388 16 Feb 2016 Finding Patchy sclerosis of distal phalanx of finger Human Phenotype Ontology C4021384 HP:0009840 16 Feb 2016 Finding Patchy sclerosis of distal toe phalanx Human Phenotype Ontology C4021323 HP:0010190 16 Feb 2016 Finding Patchy sclerosis of finger phalanx Human Phenotype Ontology C1857508 HP:0009772 16 Feb 2016 Finding Patchy sclerosis of hallux phalanx Human Phenotype Ontology C4021340 HP:0010063 16 Feb 2016 Finding Patchy sclerosis of hand bones Human Phenotype Ontology C4025370 HP:0004286 16 Feb 2016 Finding Patchy sclerosis of middle phalanx of finger Human Phenotype Ontology C4021382 HP:0009848 16 Feb 2016 Finding Patchy sclerosis of middle toe phalanx Human Phenotype Ontology C4021319 HP:0010199 16 Feb 2016 Finding Patchy sclerosis of proximal phalanx of finger Human Phenotype Ontology C4021381 HP:0009856 16 Feb 2016 Finding Patchy sclerosis of proximal toe phalanx Human Phenotype Ontology C4021313 HP:0010208 16 Feb 2016 Finding Patchy sclerosis of radial diaphysis Human Phenotype Ontology C4025431 HP:0004030 16 Feb 2016 Finding Patchy sclerosis of the 1st metacarpal Human Phenotype Ontology C4024093 HP:0010031 16 Feb 2016 Finding Patchy sclerosis of the 1st metatarsal Human Phenotype Ontology C4024072 HP:0010072 16 Feb 2016 Finding Patchy sclerosis of the distal phalanx of the 2nd finger Human Phenotype Ontology C4024290 HP:0009562 16 Feb 2016 Finding Patchy sclerosis of the distal phalanx of the 2nd toe Human Phenotype Ontology C4023838 HP:0010418 16 Feb 2016 Finding Patchy sclerosis of the distal phalanx of the 3rd finger Human Phenotype Ontology C4024371 HP:0009425 16 Feb 2016 Finding Patchy sclerosis of the distal phalanx of the 3rd toe Human Phenotype Ontology C4022060 HP:0100467 16 Feb 2016 Finding Patchy sclerosis of the distal phalanx of the 4th finger Human Phenotype Ontology C4024456 HP:0009304 16 Feb 2016 Finding Patchy sclerosis of the distal phalanx of the 4th toe Human Phenotype Ontology C4022059 HP:0100468 16 Feb 2016 Finding Patchy sclerosis of the distal phalanx of the 5th finger Human Phenotype Ontology C4024503 HP:0009243 16 Feb 2016 Finding Patchy sclerosis of the distal phalanx of the 5th toe Human Phenotype Ontology C4022058 HP:0100469 16 Feb 2016 Finding Patchy sclerosis of the distal phalanx of the hallux Human Phenotype Ontology C4024064 HP:0010081 16 Feb 2016 Finding Patchy sclerosis of the distal phalanx of the thumb Human Phenotype Ontology C4024258 HP:0009646 16 Feb 2016 Finding Patchy sclerosis of the middle phalanx of the 2nd finger Human Phenotype Ontology C4024285 HP:0009573 16 Feb 2016 Finding Patchy sclerosis of the middle phalanx of the 2nd toe Human Phenotype Ontology C4023846 HP:0010409 16 Feb 2016 Finding Patchy sclerosis of the middle phalanx of the 3rd finger Human Phenotype Ontology C4024364 HP:0009434 16 Feb 2016 Finding Patchy sclerosis of the middle phalanx of the 3rd toe Human Phenotype Ontology C4022066 HP:0100461 16 Feb 2016 Finding Patchy sclerosis of the middle phalanx of the 4th finger Human Phenotype Ontology C4024454 HP:0009307 16 Feb 2016 Finding Patchy sclerosis of the middle phalanx of the 4th toe Human Phenotype Ontology C4022065 HP:0100462 16 Feb 2016 Finding Patchy sclerosis of the middle phalanx of the 5th finger Human Phenotype Ontology C4024555 HP:0009175 16 Feb 2016 Finding Patchy sclerosis of the middle phalanx of the 5th toe Human Phenotype Ontology C4022064 HP:0100463 16 Feb 2016 Finding Patchy sclerosis of the proximal phalanx of the 2nd finger Human Phenotype Ontology C4024278 HP:0009585 16 Feb 2016 Finding Patchy sclerosis of the proximal phalanx of the 2nd toe Human Phenotype Ontology C4023854 HP:0010400 16 Feb 2016 Finding Patchy sclerosis of the proximal phalanx of the 3rd finger Human Phenotype Ontology C4024351 HP:0009454 16 Feb 2016 Finding Patchy sclerosis of the proximal phalanx of the 3rd toe Human Phenotype Ontology C4022063 HP:0100464 16 Feb 2016 Finding Patchy sclerosis of the proximal phalanx of the 4th finger Human Phenotype Ontology C4024449 HP:0009313 16 Feb 2016 Finding Patchy sclerosis of the proximal phalanx of the 4th toe Human Phenotype Ontology C4022062 HP:0100465 16 Feb 2016 Finding Patchy sclerosis of the proximal phalanx of the 5th finger Human Phenotype Ontology C4024513 HP:0009231 16 Feb 2016 Finding Patchy sclerosis of the proximal phalanx of the 5th toe Human Phenotype Ontology C4022061 HP:0100466 16 Feb 2016 Finding Patchy sclerosis of the proximal phalanx of the hallux Human Phenotype Ontology C4024057 HP:0010090 16 Feb 2016 Finding Patchy sclerosis of the proximal phalanx of the thumb Human Phenotype Ontology C4024264 HP:0009634 16 Feb 2016 Finding Patchy sclerosis of thumb phalanx Human Phenotype Ontology C4021413 HP:0009655 16 Feb 2016 Finding Patchy sclerosis of toe phalanx Human Phenotype Ontology C4021329 HP:0010178 16 Feb 2016 Finding Patchy variation in bone mineral density Human Phenotype Ontology C4021245 HP:0010659 16 Feb 2016 Finding Patel Bixler syndrome 16 Feb 2016 Disease Patella aplasia/hypoplasia MONDO C1868577 MONDO:0008205 168860 17 Apr 2020 Disease Patella aplasia/hypoplasia, bilateral MONDO MONDO:0017473 17 Apr 2020 Disease Patella aplasia/hypoplasia, unilateral MONDO MONDO:0017472 17 Apr 2020 Disease Patella hypoplasia mental retardation 16 Feb 2016 Disease Patella, familial recurrent dislocation of NCBI curation C1868575 169000 16 Feb 2016 Disease Patellar aplasia Human Phenotype Ontology C1868578 HP:0006443 16 Feb 2016 Finding Patellar dislocation Human Phenotype Ontology C1135812 HP:0002999 16 Feb 2016 Finding Patellar dysostosis MONDO CN229216 MONDO:0019712 17 Apr 2020 Disease Patellar hypoplasia Human Phenotype Ontology C1840068 HP:0003065 16 Feb 2016 Finding Patellar subluxation Human Phenotype Ontology C0857276 HP:0010499 16 Feb 2016 Finding Patellar tendinitis MONDO C0158317 MONDO:0001042 17 Apr 2020 Disease Patellofemoral pain syndrome MONDO C0877149 MONDO:0006894 17 Apr 2020 Disease Patent ductus arteriosus Human Phenotype Ontology C0013274 HP:0001643 23 Oct 2016 Disease Patent ductus arteriosus OMIM phenotypic series C0013274 PS607411 23 Oct 2016 Disease Patent ductus arteriosus 1 NCBI curation C4282128 607411 23 Oct 2016 Disease Patent ductus arteriosus 2 NCBI curation C4284595 617035 24 Aug 2016 Disease Patent ductus arteriosus 3 NCBI curation C4310753 617039 24 Aug 2016 Disease Patent ductus arteriosus after birth at term Human Phenotype Ontology C4023249 HP:0011648 16 Feb 2016 Finding Patent ductus arteriosus after premature birth Human Phenotype Ontology C4023248 HP:0011649 16 Feb 2016 Finding Patent ductus arteriosus and bicuspid aortic valve with hand anomalies NCBI curation C1858420 604381 16 Feb 2016 Disease patent ductus arteriosus was performed at the age of 2 months. 13 Feb 2020 Finding Patent ductus venosus C0344688 601466 16 Feb 2016 Disease Patent foramen ovale Human Phenotype Ontology C0016522 HP:0001655 16 Feb 2016 Finding Patent tuba eustachii Human Phenotype Ontology C4021033 HP:0040124 16 Feb 2016 Finding Patent urachus Human Phenotype Ontology C0266357 HP:0010479 16 Feb 2016 Finding Paternal 14q32.2 hypomethylation syndrome MONDO CN202038 MONDO:0016782 17 Apr 2020 Disease Paternal 14q32.2 microdeletion syndrome MONDO CN202036 MONDO:0016780 17 Apr 2020 Disease Paternal 20q13.2q13.3 microdeletion syndrome Orphanet C4510306 ORPHA261304 27 Jun 2019 Disease Paternal uniparental disomy of chromosome 1 MONDO C4707800 MONDO:0016650 17 Apr 2020 Disease Paternal uniparental disomy of chromosome 13 MONDO C4722326 MONDO:0020468 17 Apr 2020 Disease Paternal uniparental disomy of chromosome 14 MONDO C1842466 MONDO:0011975 608149 17 Apr 2020 Disease Paternal uniparental disomy of chromosome 20 MONDO C4275028 MONDO:0019924 17 Apr 2020 Disease Paternal uniparental disomy of chromosome 21 MONDO C4707801 MONDO:0019925 17 Apr 2020 Disease Paternal uniparental disomy of chromosome 5 MONDO C4749377 MONDO:0019920 17 Apr 2020 Disease Paternal uniparental disomy of chromosome 6 MONDO C4749378 MONDO:0019921 17 Apr 2020 Disease Paternal uniparental disomy of chromosome 7 MONDO C4707802 MONDO:0019922 17 Apr 2020 Disease Paternal uniparental disomy of chromosome X MONDO C5191049 MONDO:0016852 17 Apr 2020 Disease Pathologic fracture Human Phenotype Ontology C0016663 HP:0002756 16 Feb 2016 Finding pathological tumor size (pT) CN221136 16 Feb 2016 Finding Patient had her sibling showed similar condition. NCBI curation 30 Jun 2017 Finding Patient met NIH clinical criteria for NF1 09 Feb 2018 Finding Patient's previous child had skeletal deformities. His ultrasonography revealed short limbs. NCBI curation 30 Jun 2017 Finding Pattern dystrophy of the retina Human Phenotype Ontology C4024762 HP:0007963 16 Feb 2016 Finding Patterned dystrophy of retinal pigment epithelium C4551999 169150 16 Feb 2016 Disease Patterson-Stevenson-Fontaine syndrome MONDO C1866741 MONDO:0008465 183700 22 Apr 2020 Disease Patulous eustachian tube MONDO C0155434 MONDO:0001508 17 Apr 2020 Disease Patulous urethra Human Phenotype Ontology C4476766 HP:0025417 04 Apr 2018 Finding Pauci-immune glomerulonephritis MONDO C4324689 MONDO:0019641 17 Apr 2020 Disease Pauci-immune glomerulonephritis with ANCA MONDO CN206923 MONDO:0019988 17 Apr 2020 Disease Pauci-immune glomerulonephritis without ANCA MONDO CN206924 MONDO:0019989 17 Apr 2020 Disease Pauciarticular chronic arthritis 16 Feb 2016 Disease Paucibacillary leprosy MONDO C1562908 MONDO:0041752 04 Jun 2020 Infectious disease Paucity of anterior horn motor neurons Human Phenotype Ontology C2673351 HP:0007277 16 Feb 2016 Finding Pavone Fiumara Rizzo syndrome MONDO C2931172 MONDO:0043170 17 Apr 2020 Disease PAX8 POLYMORPHISM 16 Feb 2016 Disease Pazopanib response CN232333 16 Feb 2016 Pharmacological response PCDH15-Related Disorders 23 May 2019 Disease PCSK9-Related Disorders 23 May 2019 Disease PDD with moderate expressive language disorder CN236732 09 Jun 2016 Finding PDE6B-Related Disorders 23 May 2019 Disease PDE6H-Related Disorders 23 May 2019 Disease PDS5A-related disorder 04 May 2018 Disease Peach allergy MONDO MONDO:0000785 17 Apr 2020 Disease Peanut allergic reaction MONDO C0559470 MONDO:0005902 17 Apr 2020 Disease Pear-shaped nose Human Phenotype Ontology C1853482 HP:0000447 16 Feb 2016 Finding Pear-shaped vertebrae Human Phenotype Ontology C1866731 HP:0004566 16 Feb 2016 Finding Pearson syndrome MONDO C0342784 MONDO:0010797 557000 09 May 2020 Disease Peau d'orange Human Phenotype Ontology C0425791 HP:0025533 04 Apr 2018 Finding Peau d'orange retinal changes NCBI curation C1867453 16 Feb 2016 Finding Pechet factor deficiency NCBI curation C1868545 169200 16 Feb 2016 Disease Pectobacterium carotovorum infection MONDO CN281753 MONDO:0005122 04 Jun 2020 Infectious disease Pectoral muscle hypoplasia/aplasia Human Phenotype Ontology C4025226 HP:0005258 16 Feb 2016 Finding Pectoralis amyotrophy Human Phenotype Ontology C4023066 HP:0012037 16 Feb 2016 Finding Pectoralis hypoplasia Human Phenotype Ontology C1846477 HP:0008998 16 Feb 2016 Finding Pectoralis major hypoplasia Human Phenotype Ontology C1840086 HP:0008953 16 Feb 2016 Finding Pectoralis muscle, absence of NCBI curation 16 Feb 2016 Disease Pectus CN235532 15 Mar 2016 Finding Pectus carinatum Human Phenotype Ontology C0158731 HP:0000768 16 Feb 2016 Finding Pectus excavatum NCBI curation C0016842 169300 16 Feb 2016 Disease Pectus excavatum of inferior sternum Human Phenotype Ontology C1864796 HP:0000915 16 Feb 2016 Finding Pectus excavatum, macrocephaly, short stature, and dysplastic nails NCBI curation C1838160 600399 24 Aug 2016 Disease Pediatric angiosarcoma MONDO C0279988 MONDO:0003022 17 Apr 2020 Disease Pediatric arterial ischemic stroke MONDO CN237614 MONDO:0018585 17 Apr 2020 Disease Pediatric Castleman disease MONDO MONDO:0019752 17 Apr 2020 Disease Pediatric cerebral ependymoblastoma MONDO C1332962 MONDO:0004378 17 Apr 2020 Disease Pediatric CNS choriocarcinoma MONDO C1377604 MONDO:0003953 17 Apr 2020 Disease Pediatric collagenous gastritis MONDO CN258480 MONDO:0044624 17 Apr 2020 Disease Pediatric Crohns disease 16 Feb 2016 Disease Pediatric extraocular retinoblastoma MONDO C1321870 MONDO:0004350 17 Apr 2020 Disease Pediatric fibrosarcoma MONDO C0279981 MONDO:0002678 17 Apr 2020 Disease Pediatric infratentorial ependymoblastoma MONDO C1332972 MONDO:0004263 17 Apr 2020 Disease Pediatric infratentorial ependymoma MONDO C0278599 MONDO:0004248 17 Apr 2020 Disease Pediatric intraocular retinoblastoma MONDO C1321869 MONDO:0004045 17 Apr 2020 Disease Pediatric leptomeningeal melanoma MONDO C1332976 MONDO:0003764 17 Apr 2020 Disease Pediatric liposarcoma MONDO C0279984 MONDO:0003587 17 Apr 2020 Disease Pediatric lymphoma MONDO C1332979 MONDO:0003659 17 Apr 2020 Disease Pediatric meningioma MONDO C0280656 MONDO:0003057 17 Apr 2020 Disease Pediatric mesenchymal chondrosarcoma MONDO C1332982 MONDO:0003041 17 Apr 2020 Disease Pediatric metastatic thyroid tumour 09 Mar 2018 Disease Pediatric multiple sclerosis CN037005 16 Feb 2016 Disease Pediatric myxoid chondrosarcoma MONDO C1332984 MONDO:0003898 17 Apr 2020 Disease Pediatric osteosarcoma MONDO C1332986 MONDO:0002623 17 Apr 2020 Disease Pediatric ovarian dysgerminoma MONDO C1332988 MONDO:0004193 17 Apr 2020 Disease Pediatric ovarian germ cell tumor MONDO C0796664 MONDO:0003760 17 Apr 2020 Disease Pediatric supratentorial ependymoma MONDO C0278650 MONDO:0004249 17 Apr 2020 Disease Pediatric systemic lupus erythematosus MONDO MONDO:0019725 17 Apr 2020 Disease Pediatric T-cell leukemia 16 Feb 2016 Disease Pediatric ulcerative colitis 16 Feb 2016 Disease Pediatric-onset Graves disease MONDO CN258632 MONDO:0033925 17 Apr 2020 Disease Pediculus humanus capitis infestation MONDO C0030757 MONDO:0003471 04 Jun 2020 Infectious disease Pediculus humanus corporis infestation MONDO C0030758 MONDO:0003482 04 Jun 2020 Infectious disease Pedophilia MONDO C0030764 MONDO:0001692 17 Apr 2020 Disease Peeling skin syndrome OMIM phenotypic series CN263120 PS270300 10 Jan 2020 Disease Peeling skin syndrome 1 NCBI curation C1849193 270300 10 Jan 2020 Disease Peeling skin syndrome 2 NCBI curation C1853354 609796 10 Jan 2020 Disease Peeling skin syndrome 3 NCBI curation C4015729 616265 16 Feb 2016 Disease Peeling skin syndrome 4 NCBI curation C4225407 607936 10 Jan 2020 Disease Peeling skin syndrome 5 NCBI curation C4310710 617115 20 Jun 2017 Disease Peeling skin syndrome 6 NCBI curation C4748093 618084 10 Jan 2020 Disease Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads NCBI curation C4225381 616295 16 Feb 2016 Disease Peg-like central prominence of distal tibial metaphyses Human Phenotype Ontology C1846160 HP:0006423 16 Feb 2016 Finding Peg-shaped maxillary lateral incisors Human Phenotype Ontology C4025060 HP:0006342 16 Feb 2016 Finding Peginterferon alfa-2a response NCBI curation CN184128 16 Feb 2016 Pharmacological response peginterferon alfa-2a response - Efficacy PharmGKB CN240583 1448102439 17 Feb 2017 Pharmacological response peginterferon alfa-2a, peginterferon alfa-2b, and ribavirin response - Efficacy PharmGKB CN236450 827862764 18 May 2016 Pharmacological response peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, and telaprevir response - Efficacy PharmGKB CN236451 1183888969 18 May 2016 Pharmacological response peginterferon alfa-2b and ribavirin response - Efficacy PharmGKB 1448102550 06 Jul 2018 Pharmacological response peginterferon alfa-2b and ribavirin response - Toxicity/ADR PharmGKB CN236453 1446905691 18 May 2016 Pharmacological response Peginterferon alfa-2b response CN078000 16 Feb 2016 Pharmacological response peginterferon alfa-2b response - Efficacy PharmGKB CN240584 1448102439 17 Feb 2017 Pharmacological response peginterferon alfa-2b response - Toxicity/ADR PharmGKB CN236454 1446905703 18 May 2016 Pharmacological response Pegloticase response NCBI curation CN575653 31 Oct 2017 Pharmacological response PEHO syndrome C1850055 260565 16 Feb 2016 Disease PEHO-like syndrome NCBI curation C1850056 617507 22 Jun 2017 Disease Pelger-Huet-like anomaly and episodic fever with abdominal pain NCBI curation C1850054 260570 16 Feb 2016 Disease Pelger-Huët anomaly C0030779 169400 16 Feb 2016 Disease Peliosis hepatis MONDO C0030781 MONDO:0004717 17 Apr 2020 Disease Pelizaeus-Merzbacher disease C0205711 312080 16 Feb 2016 Disease Pelizaeus-Merzbacher disease in female carriers MONDO CN202706 MONDO:0017224 17 Apr 2020 Disease Pelizaeus-Merzbacher disease, atypical NCBI curation C0751915 23 Mar 2017 Disease Pelizaeus-Merzbacher disease, classic form MONDO C0751916 MONDO:0017222 17 Apr 2020 Disease Pelizaeus-Merzbacher disease, connatal NCBI curation C4016483 23 Mar 2017 Disease Pelizaeus-Merzbacher disease, connatal form MONDO CN202703 MONDO:0017221 17 Apr 2020 Disease Pelizaeus-Merzbacher disease, mild NCBI curation C4016484 23 Mar 2017 Disease Pelizaeus-Merzbacher disease, transitional form MONDO C0751917 MONDO:0017223 17 Apr 2020 Disease Pellagra C0030783 16 Feb 2016 Disease Pellagra-like syndrome MONDO C1850052 MONDO:0009844 260650 22 Apr 2020 Disease Pellucid marginal degeneration MONDO CN199253 MONDO:0015298 17 Apr 2020 Disease Pelvic arteriovenous malformation Human Phenotype Ontology C4531181 HP:0031344 04 Apr 2018 Finding Pelvic bone asymmetry Human Phenotype Ontology C4021263 HP:0010453 16 Feb 2016 Finding Pelvic bone exostoses Human Phenotype Ontology C1844689 HP:0003276 16 Feb 2016 Finding Pelvic dysplasia arthrogryposis of lower limbs 16 Feb 2016 Disease Pelvic dysplasia-arthrogryposis of lower limbs syndrome MONDO C1865294 MONDO:0011235 602484 17 Apr 2020 Disease Pelvic girdle amyotrophy Human Phenotype Ontology C4021528 HP:0008946 16 Feb 2016 Finding Pelvic girdle muscle atrophy Human Phenotype Ontology C0240679 HP:0008988 16 Feb 2016 Finding Pelvic girdle muscle weakness Human Phenotype Ontology C0427064 HP:0003749 16 Feb 2016 Finding Pelvic inflammatory disease MONDO C0242172 MONDO:0000922 17 Apr 2020 Disease Pelvic kidney Human Phenotype Ontology C0221209 HP:0000125 16 Feb 2016 Finding Pelvic lipomatosis C0406608 16 Feb 2016 Disease Pelvic lipomatosis with crossed renal ectopia NCBI curation C1868511 169545 16 Feb 2016 Disease Pelvic mass Human Phenotype Ontology C0347944 HP:0031501 04 Apr 2018 Finding Pelvic muscle wasting MONDO MONDO:0001327 17 Apr 2020 Disease Pelvic obliquity C0264192 19 Feb 2016 Finding Pelvic organ prolapse Human Phenotype Ontology C0877015 HP:0031607 04 Apr 2018 Finding Pelvic organ prolapse 1 NCBI curation 16 Feb 2016 Disease Pelvic organ prolapse 2 NCBI curation C2751314 613088 16 Feb 2016 Disease Pelvic organ prolapse, susceptibility to NCBI curation C2752090 176780 16 Feb 2016 Disease Pelvic varices MONDO C0155795 MONDO:0004869 17 Apr 2020 Disease Pelvis syndrome MONDO C4510867 MONDO:0019388 17 Apr 2020 Disease Pelvis-shoulder dysplasia NCBI curation C1868508 169550 16 Feb 2016 Disease Pelviscapular dysplasia MONDO C1850040 MONDO:0009845 260660 17 Apr 2020 Disease Pemetrexed response NCBI curation CN221089 16 Feb 2016 Pharmacological response Pemigatinib (INCB054828) resistance 26 Jun 2019 Finding Pemigatinib resistance NCBI curation 15 Jul 2019 Pharmacological response Pemphigus C0030807 16 Feb 2016 Disease Pemphigus and fogo selvagem C0263314 16 Feb 2016 Disease Pemphigus erythematosus MONDO C0263312 MONDO:0019323 17 Apr 2020 Disease Pemphigus foliaceus C0263313 16 Feb 2016 Disease Pemphigus vegetans MONDO C0263316 MONDO:0019322 17 Apr 2020 Disease Pemphigus vulgaris 16 Feb 2016 Disease Pemphigus vulgaris, familial C1868502 169610 16 Feb 2016 Disease PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM 16 Feb 2016 Disease Pena-Shokeir syndrome type I C1276035 208150 16 Feb 2016 Disease Pendred syndrome NCBI curation C0271829 274600 15 Oct 2018 Disease Pendular nystagmus Human Phenotype Ontology C0271388 HP:0012043 16 Feb 2016 Finding Pendulous urethral stricture Human Phenotype Ontology C4476764 HP:0025414 04 Apr 2018 Finding Penetrating foot ulcers Human Phenotype Ontology C4025809 HP:0001026 16 Feb 2016 Finding Penicillin allergy MONDO C0030824 MONDO:0000795 17 Apr 2020 Disease Penicilliosis MONDO C1274008 MONDO:0000304 04 Jun 2020 Infectious disease Penile agenesis MONDO C1387005 MONDO:0018846 17 Apr 2020 Disease Penile cancer MONDO C0153601 MONDO:0001325 17 Apr 2020 Disease Penile cancer, adult 16 Feb 2016 Disease Penile cancer, childhood 16 Feb 2016 Disease Penile carcinoma MONDO C0853105 MONDO:0006360 17 Apr 2020 Disease Penile disease MONDO C0030846 MONDO:0002036 17 Apr 2020 Disease Penile fibromatosis MONDO MONDO:0006361 17 Apr 2020 Disease Penile freckling Human Phenotype Ontology C4531112 HP:0031447 01 Jun 2017 Finding Penile hypospadias Human Phenotype Ontology CN002931 HP:0003244 16 Feb 2016 Disease Penile sarcoma MONDO C0238352 MONDO:0001387 17 Apr 2020 Disease Penile urethral cancer MONDO C1518950 MONDO:0004504 17 Apr 2020 Disease Penis agenesis 16 Feb 2016 Disease Penis basal cell carcinoma MONDO C1518949 MONDO:0002935 17 Apr 2020 Disease Penis carcinoma in situ MONDO C0154089 MONDO:0004671 17 Apr 2020 Disease Penis mixed squamous cell carcinoma MONDO C1513369 MONDO:0004430 17 Apr 2020 Disease Penis verrucous carcinoma MONDO C1336955 MONDO:0003698 17 Apr 2020 Disease Penoscrotal hypospadias Human Phenotype Ontology C0452147 HP:0000808 16 Feb 2016 Finding Penoscrotal transposition (disease) MONDO C1868854 MONDO:0017285 17 Apr 2020 Disease PENS syndrome MONDO C4749916 MONDO:0017785 17 Apr 2020 Disease Pentalogy of Cantrell C0559483 313850 16 Feb 2016 Disease Pentasomy X MONDO CN269726 MONDO:0015228 07 Jun 2020 Disease pentazocine response - Dosage PharmGKB CN236541 1183574175 18 May 2016 Pharmacological response PEPCK 2 deficiency C2931278 16 Feb 2016 Disease Peptic esophagitis MONDO C0014869 MONDO:0006896 17 Apr 2020 Disease Peptic ulcer Human Phenotype Ontology C0030920 HP:0004398 16 Feb 2016 Finding Peptic ulcer perforation MONDO MONDO:0004260 17 Apr 2020 Disease PEPTIDE TRANSPORTER PSF1 POLYMORPHISM 16 Feb 2016 Disease PEPTIDE TRANSPORTER PSF2 POLYMORPHISM 16 Feb 2016 Disease Peptidic growth factors deficiency 16 Feb 2016 Disease Peptostreptococcus infectious disease MONDO C1096562 MONDO:0024412 04 Jun 2020 Infectious disease Perceptual disorders MONDO MONDO:0024417 17 Apr 2020 Disease PERCHING syndrome NCBI curation C4310742 617055 11 Jan 2020 Disease Percussion myotonia Human Phenotype Ontology C0751359 HP:0010548 16 Feb 2016 Finding Percussion-induced rapid rolling muscle contractions Human Phenotype Ontology C4280804 HP:0003760 02 Apr 2017 Finding Perennial allergic rhinitis MONDO C0035457 MONDO:0024332 17 Apr 2020 Disease Perforated corneal ulcer MONDO C0151844 MONDO:0001038 17 Apr 2020 Disease Perforation of bile duct MONDO C0156218 MONDO:0001710 17 Apr 2020 Disease Peri gyral ductal grey matter 20 Jun 2019 Finding Peri-orbital fullness 23 Jan 2020 Finding Periampullary adenocarcinoma MONDO C1335377 MONDO:0004465 17 Apr 2020 Disease Periampullary adenoma NCBI curation CN068444 16 Feb 2016 Disease Perianal abscess Human Phenotype Ontology C0031019 HP:0009789 16 Feb 2016 Finding Perianal Crohn disease MONDO C0341395 MONDO:0005537 17 Apr 2020 Disease Perianal hematoma MONDO MONDO:0004871 17 Apr 2020 Disease Perianal rash Human Phenotype Ontology C0240705 HP:0011131 16 Feb 2016 Finding Periapical bone loss Human Phenotype Ontology C1852169 HP:0000700 04 Apr 2018 Finding Periapical periodontitis MONDO C0031030 MONDO:0004508 17 Apr 2020 Disease Periapical tooth abscess Human Phenotype Ontology C4280782 HP:0030758 02 Apr 2017 Finding Periarteritis nodosa 16 Feb 2016 Disease Periarthritis MONDO C0031037 MONDO:0006898 17 Apr 2020 Disease Periarticular calcification Human Phenotype Ontology C0342650 HP:0025477 04 Apr 2018 Finding Periarticular subcutaneous nodules Human Phenotype Ontology C3806306 HP:0007470 16 Feb 2016 Finding Periauricular skin pits Human Phenotype Ontology C4022171 HP:0100277 16 Feb 2016 Finding Peribronchovascular interstitial thickening Human Phenotype Ontology C4476637 HP:0025177 02 Apr 2017 Finding Pericardial and diaphragmatic defect MONDO CN227108 MONDO:0017301 17 Apr 2020 Disease Pericardial constriction Human Phenotype Ontology C0240709 HP:0005132 16 Feb 2016 Finding Pericardial effusion Human Phenotype Ontology C0031039 HP:0001698 16 Feb 2016 Finding Pericardial effusion, chronic NCBI curation C1850039 260900 16 Feb 2016 Disease Pericardial lymphangiectasia Human Phenotype Ontology C1856140 HP:0005183 16 Feb 2016 Finding Pericardial mesothelioma Human Phenotype Ontology C1335381 HP:0100004 16 Feb 2016 Finding Pericardial tuberculosis MONDO C0031049 MONDO:0005903 04 Jun 2020 Infectious disease Pericarditis Human Phenotype Ontology C0031046 HP:0001701 16 Feb 2016 Finding Pericardium absent mental retardation short stature 16 Feb 2016 Disease Pericardium cancer MONDO C0346609 MONDO:0001322 17 Apr 2020 Disease Pericardium disease MONDO C0265122 MONDO:0000474 17 Apr 2020 Disease Pericardium leiomyoma MONDO C1335380 MONDO:0003294 17 Apr 2020 Disease Pericentral scotoma Human Phenotype Ontology C1321308 HP:0007761 16 Feb 2016 Finding Pericholangitis MONDO C0031052 MONDO:0001931 17 Apr 2020 Disease Perichondritis of auricle MONDO C0155389 MONDO:0002246 04 Jun 2020 Infectious disease Pericoronitis MONDO C0031055 MONDO:0006899 17 Apr 2020 Disease Pericytic neoplasm MONDO C1335392 MONDO:0002604 17 Apr 2020 Disease Pericytoma with t(7;12) MONDO MONDO:0100063 17 Apr 2020 Disease Periductal breast myoepitheliosis MONDO C1518974 MONDO:0004261 17 Apr 2020 Disease Perifascicular muscle fiber atrophy Human Phenotype Ontology C0333757 HP:0100296 16 Feb 2016 Finding Perifollicular erythema Human Phenotype Ontology C4531225 HP:0031286 04 Apr 2018 Finding Perifollicular fibrosis Human Phenotype Ontology C2748531 HP:0030054 16 Feb 2016 Finding Perifollicular hyperkeratosis Human Phenotype Ontology C4024867 HP:0007468 16 Feb 2016 Finding Perifolliculitis Human Phenotype Ontology C0263006 HP:0012322 16 Feb 2016 Finding Perifolliculitis capitis abscedens et suffodiens NCBI curation C0263506 260910 16 Feb 2016 Disease Perifoveal ring of hyperautofluorescence Human Phenotype Ontology C4073099 HP:0030629 16 Feb 2016 Finding Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence Human Phenotype Ontology C4073104 HP:0030634 16 Feb 2016 Finding Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence Human Phenotype Ontology C4073103 HP:0030633 16 Feb 2016 Finding Perihilar intrahepatic cholangiocarcinoma MONDO C3273047 MONDO:0044788 17 Apr 2020 Disease Perilobar nephroblastomatosis Human Phenotype Ontology C4551836 HP:0011796 16 Feb 2016 Finding Perilobar nephrogenic rest Human Phenotype Ontology C1319017 HP:0012782 16 Feb 2016 Finding Perilymphatic gusher during stapes surgery NCBI curation 16 Feb 2016 Disease Perimembranous ventricular septal defect Human Phenotype Ontology C0344925 HP:0011682 16 Feb 2016 Finding Perimyositis 16 Feb 2016 Disease Perinatal death (respiratory distress) 20 Jun 2019 Finding Perinatal death due to respiratory distress 15 Mar 2018 Finding Perinatal disease MONDO MONDO:0100086 17 Apr 2020 Disease perinatal femur fracture 26 Feb 2020 Finding perinatal intestinal perforation C0159006 18 Jan 2019 Finding Perinatal jaundice due to hepatocellular damage MONDO C0158976 MONDO:0006595 17 Apr 2020 Disease Perinatal necrotizing enterocolitis MONDO C4082937 MONDO:0004639 17 Apr 2020 Disease Perineal fistula Human Phenotype Ontology C0561921 HP:0004871 16 Feb 2016 Finding Perineal hemangioma Human Phenotype Ontology C4531110 HP:0031449 04 Apr 2018 Finding Perineal hypospadias Human Phenotype Ontology C0452148 HP:0000051 16 Feb 2016 Finding Perineocele MONDO MONDO:0001559 17 Apr 2020 Disease Perinephric fluid collection Human Phenotype Ontology C0747490 HP:0031226 04 Apr 2018 Finding Perinephritis Human Phenotype Ontology C0031065 HP:0012784 16 Feb 2016 Finding Perineural angioma MONDO C1335382 MONDO:0004533 17 Apr 2020 Disease Perineural cyst MONDO C0520720 MONDO:0019000 17 Apr 2020 Disease Perineurial cyst 16 Feb 2016 Disease Perineurioma MONDO C0751691 MONDO:0019404 17 Apr 2020 Disease Periocular capillary hemangioma 25 Mar 2019 Finding Periocular meningioma MONDO C1335383 MONDO:0004439 17 Apr 2020 Disease Periodic fever syndrome NCBI curation C3889979 13 Oct 2017 Disease Periodic fever, aphthous stomatitis, pharyngitis and adenitis 16 Feb 2016 Disease Periodic fever, menstrual cycle-dependent NCBI curation C3553418 614674 16 Feb 2016 Disease Periodic fever-aphtous stomatitis-pharyngitis-adenopathy NCBI curation CN243965 20 Jun 2017 Disease Periodic hypokalemic paresis Human Phenotype Ontology C4021553 HP:0008153 16 Feb 2016 Finding Periodic Limb Movement Disorder C0751774 18 Jan 2019 Finding Periodic paralysis Human Phenotype Ontology C1279412 HP:0003768 16 Feb 2016 Finding Periodic paralysis with later-onset distal motor neuropathy MONDO C4751573 MONDO:0018343 17 Apr 2020 Disease Periodic paralysis with transient compartment-like syndrome MONDO C4751572 MONDO:0018344 17 Apr 2020 Disease Periodontitis Human Phenotype Ontology C0031099 HP:0000704 16 Feb 2016 Finding Periodontitis, aggressive, 1 NCBI curation C4551681 170650 16 Feb 2016 Disease Periodontitis, aggressive, 2 NCBI curation C1969478 608526 16 Feb 2016 Disease Periodontitis, chronic NCBI curation C0266929 260950 16 Feb 2016 Disease Perioral eczema Human Phenotype Ontology C1396126 HP:0011127 16 Feb 2016 Finding Perioral hyperpigmentation Human Phenotype Ontology C4023699 HP:0010802 16 Feb 2016 Finding Perioral myoclonia with absences MONDO C4707846 MONDO:0015345 17 Apr 2020 Disease Periorbital dermoid cyst Human Phenotype Ontology C4073119 HP:0030668 02 Apr 2017 Finding Periorbital ecchymosis with tarsal plate sparing Human Phenotype Ontology C4531294 HP:0025553 04 Apr 2018 Finding Periorbital edema Human Phenotype Ontology C0151205 HP:0100539 16 Feb 2016 Finding Periorbital fullness Human Phenotype Ontology C1858036 HP:0000629 16 Feb 2016 Finding Periorbital hyperpigmentation Human Phenotype Ontology C1844606 HP:0001106 16 Feb 2016 Finding Periorbital purpura Human Phenotype Ontology C4531295 HP:0025552 04 Apr 2018 Finding Periorbital wrinkles Human Phenotype Ontology C1844605 HP:0000607 16 Feb 2016 Finding Periosteal chondroma MONDO C0334548 MONDO:0002359 17 Apr 2020 Disease Periosteal chondrosarcoma MONDO C0334549 MONDO:0003680 17 Apr 2020 Disease Periosteal new bone of humeral diaphysis Human Phenotype Ontology C4025498 HP:0003931 02 Apr 2017 Finding Periosteal new bone of humerus Human Phenotype Ontology C4025533 HP:0003878 02 Apr 2017 Finding Periosteal osteogenic sarcoma MONDO C1377843 MONDO:0003895 17 Apr 2020 Disease Periosteal thickening of long tubular bones Human Phenotype Ontology C1834345 HP:0006465 16 Feb 2016 Finding Periostitis Human Phenotype Ontology C0031111 HP:0040165 16 Feb 2016 Finding Periostosis Human Phenotype Ontology C1409412 HP:0030314 16 Feb 2016 Finding Peripapillary atrophy, beta type NCBI curation C1968838 611650 16 Feb 2016 Disease Peripapillary chorioretinal atrophy Human Phenotype Ontology C4024765 HP:0007950 16 Feb 2016 Finding Peripapillary exudate Human Phenotype Ontology C4476586 HP:0025093 02 Apr 2017 Finding Peripartum cardiomyopathy C0269972 16 Feb 2016 Disease Peripartum cardiomyopathy, susceptibility to NCBI curation C3553406 614670 16 Feb 2016 Disease Peripheral amyelination Human Phenotype Ontology C4022600 HP:0030172 16 Feb 2016 Finding Peripheral arterial calcification Human Phenotype Ontology C4531217 HP:0031301 04 Apr 2018 Finding peripheral arterial disease C1704436 14 Mar 2019 Finding Peripheral arterial occlusive disease 1 NCBI curation C1847493 606787 16 Feb 2016 Disease Peripheral arterial stenosis Human Phenotype Ontology C4025272 HP:0004950 16 Feb 2016 Finding Peripheral arterial stenosis Human Phenotype Ontology C4025272 HP:0004928 16 Feb 2016 Finding Peripheral arteriovenous fistula Human Phenotype Ontology C4021971 HP:0100784 16 Feb 2016 Finding Peripheral axonal atrophy Human Phenotype Ontology C4025619 HP:0003384 16 Feb 2016 Finding Peripheral axonal degeneration Human Phenotype Ontology C4025830 HP:0000764 16 Feb 2016 Finding Peripheral axonal neuropathy Human Phenotype Ontology C1263857 HP:0003477 16 Feb 2016 Finding Peripheral cone dystrophy NCBI curation C1836946 609021 16 Feb 2016 Disease Peripheral degeneration of cornea MONDO C0155123 MONDO:0001983 17 Apr 2020 Disease Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease NCBI curation C1836727 609136 16 Feb 2016 Disease Peripheral demyelination Human Phenotype Ontology C0878575 HP:0011096 16 Feb 2016 Finding Peripheral dysmyelination Human Phenotype Ontology C4025610 HP:0003469 16 Feb 2016 Finding Peripheral dysostosis NCBI curation C4721502 170700 16 Feb 2016 Disease Peripheral edema Human Phenotype Ontology C0085649 HP:0012398 16 Feb 2016 Finding Peripheral epithelioid sarcoma MONDO C1333306 MONDO:0004060 17 Apr 2020 Disease Peripheral focal chorioretinitis MONDO C0339394 MONDO:0001393 17 Apr 2020 Disease Peripheral ganglioneuroblastoma MONDO C1335387 MONDO:0003327 17 Apr 2020 Disease Peripheral hypermyelination Human Phenotype Ontology C4021049 HP:0030173 16 Feb 2016 Finding Peripheral hypomyelination Human Phenotype Ontology C4024927 HP:0007182 16 Feb 2016 Finding Peripheral hypothyroidism MONDO CN262036 MONDO:0016412 17 Apr 2020 Disease Peripheral ischemia MONDO C0235490 MONDO:0041114 17 Apr 2020 Disease Peripheral motor neuropathy-dysautonomia syndrome MONDO C1854961 MONDO:0009648 252320 17 Apr 2020 Disease Peripheral nerve compression Human Phenotype Ontology C1851414 HP:0003406 16 Feb 2016 Finding Peripheral nerve lesion MONDO MONDO:0024334 17 Apr 2020 Disease Peripheral nerve schwannoma MONDO C1519001 MONDO:0004820 17 Apr 2020 Disease Peripheral nervous system cancer MONDO C0751428 MONDO:0021089 17 Apr 2020 Disease Peripheral neuroepithelioma Human Phenotype Ontology C0684337 HP:0006717 16 Feb 2016 Disease Peripheral neuropathy Human Phenotype Ontology C0031117 HP:0009830 24 Mar 2017 Disease Peripheral neuropathy associated with monoclonal gammopathy MONDO CN229041 MONDO:0016178 17 Apr 2020 Disease Peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain NCBI curation C1850022 260970 16 Feb 2016 Disease PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT OMIM C4748283 618124 618124 23 Sep 2018 Disease Peripheral neuropathy, myopathy, hoarseness, and hearing loss NCBI curation C3280556 614369 16 Feb 2016 Disease Peripheral opacification of the cornea Human Phenotype Ontology C0155100 HP:0008011 16 Feb 2016 Finding peripheral or central vertigo 14 Mar 2019 Finding Peripheral osteosarcoma MONDO C1332591 MONDO:0002628 17 Apr 2020 Disease Peripheral primitive neuroectodermal tumor of bone MONDO C0855009 MONDO:0002981 17 Apr 2020 Disease Peripheral primitive neuroectodermal tumor of soft tissues MONDO C1112437 MONDO:0002982 17 Apr 2020 Disease Peripheral pulmonary artery stenosis Human Phenotype Ontology C0345030 HP:0004969 16 Feb 2016 Finding peripheral pulmonary steis 05 Sep 2019 Finding Peripheral pulmonary vessel aplasia Human Phenotype Ontology C1848877 HP:0005316 16 Feb 2016 Finding Peripheral resistance to thyroid hormones MONDO C4273673 MONDO:0019995 17 Apr 2020 Disease Peripheral retinal atrophy Human Phenotype Ontology C3553016 HP:0200070 16 Feb 2016 Finding Peripheral retinal avascularization Human Phenotype Ontology C1851406 HP:0007685 16 Feb 2016 Finding Peripheral retinal degeneration Human Phenotype Ontology C1320640 HP:0007769 16 Feb 2016 Finding Peripheral retinal detachment Human Phenotype Ontology C4024771 HP:0007929 16 Feb 2016 Finding Peripheral retinal neovascularization Human Phenotype Ontology C0474355 HP:0030667 02 Apr 2017 Finding Peripheral schisis NCBI curation C4068740 16 Feb 2016 Finding Peripheral Schwannoma Human Phenotype Ontology C4024276 HP:0009593 16 Feb 2016 Finding Peripheral T-cell lymphoma 16 Feb 2016 Disease Peripheral T-cell lymphoma, not otherwise specified MONDO MONDO:0004964 17 Apr 2020 Disease Peripheral thrombosis Human Phenotype Ontology C1849749 HP:0002641 16 Feb 2016 Finding Peripheral traction retinal detachment Human Phenotype Ontology C4024825 HP:0007643 16 Feb 2016 Finding Peripheral type neurofibromatosis 16 Feb 2016 Disease Peripheral Vascular Diseases PharmGKB C0085096 18 May 2016 Disease Peripheral vascular insufficiency C1401086 16 Feb 2016 Finding Peripheral vertigo MONDO C0155501 MONDO:0004900 17 Apr 2020 Disease Peripheral visual field constriction with 10-20 degrees central field preserved Human Phenotype Ontology C4732755 HP:0030526 16 Feb 2016 Finding Peripheral visual field constriction with 20-30 degrees central field preserved Human Phenotype Ontology C5139110 HP:0030525 16 Feb 2016 Finding Peripheral visual field constriction with 30-40 degrees central field preserved Human Phenotype Ontology CN231932 HP:0030524 16 Feb 2016 Finding Peripheral visual field constriction with 40-50 degrees central field preserved Human Phenotype Ontology CN231931 HP:0030523 16 Feb 2016 Finding Peripheral visual field constriction with <10 degrees central field preserved Human Phenotype Ontology C4073004 HP:0030527 16 Feb 2016 Finding Peripheral visual field constriction with >50 degrees central field preserved Human Phenotype Ontology C4072999 HP:0030522 16 Feb 2016 Finding Peripheral visual field loss Human Phenotype Ontology C0241688 HP:0007994 16 Feb 2016 Finding Peripheral vitreoretinal degeneration Human Phenotype Ontology C3280349 HP:0200071 16 Feb 2016 Finding Peripheral vitreous opacities Human Phenotype Ontology C4024811 HP:0007710 16 Feb 2016 Finding Periportal fibrosis Human Phenotype Ontology C1849766 HP:0001405 16 Feb 2016 Finding Perirenal hematoma Human Phenotype Ontology C0473124 HP:0030171 16 Feb 2016 Finding Perisylvian polymicrogyria Human Phenotype Ontology C3279675 HP:0012650 16 Feb 2016 Finding Peritoneal abscess Human Phenotype Ontology C0267756 HP:0100592 16 Feb 2016 Finding Peritoneal benign neoplasm MONDO C0496874 MONDO:0000650 17 Apr 2020 Disease Peritoneal carcinoma MONDO MONDO:0002113 17 Apr 2020 Disease Peritoneal effusion Human Phenotype Ontology C0003964 HP:0030995 04 Apr 2018 Finding Peritoneal Gliomatosis C2938915 30 Sep 2019 Disease Peritoneal mesothelioma Human Phenotype Ontology C0346109 HP:0100003 16 Feb 2016 Finding Peritoneal mesothelioma (disease) MONDO MONDO:0006362 17 Apr 2020 Disease Peritoneal multicystic mesothelioma MONDO C1334818 MONDO:0006363 17 Apr 2020 Disease Peritoneal neoplasm MONDO C0031149 MONDO:0006901 17 Apr 2020 Disease Peritoneal serous adenocarcinoma MONDO MONDO:0003195 17 Apr 2020 Disease Peritoneal serous papillary adenocarcinoma MONDO C1368918 MONDO:0003817 17 Apr 2020 Disease Peritoneal solitary fibrous tumor MONDO C4288403 MONDO:0037737 17 Apr 2020 Disease Peritoneal well differentiated papillary mesothelioma MONDO C1709507 MONDO:0006364 17 Apr 2020 Disease Peritoneum cancer MONDO C0153467 MONDO:0002087 17 Apr 2020 Disease Peritonitis Human Phenotype Ontology C0031154 HP:0002586 16 Feb 2016 Finding Peritonsillar abscess MONDO C0031157 MONDO:0005906 04 Jun 2020 Infectious disease Peritrigonal white matter 20 Jun 2019 Finding periumbilical abdominal pain 05 Sep 2019 Finding Periungual teleangiectasia Human Phenotype Ontology C4531293 HP:0025555 04 Apr 2018 Finding Perivascular cardiac fibrosis Human Phenotype Ontology C4531195 HP:0031328 04 Apr 2018 Finding Perivascular myocardial immune cell infiltration Human Phenotype Ontology C4531193 HP:0031330 04 Apr 2018 Finding Perivascular spaces Human Phenotype Ontology C1853618 HP:0012520 16 Feb 2016 Finding Periventricular cysts Human Phenotype Ontology C1839858 HP:0007109 16 Feb 2016 Finding Periventricular gray matter heterotopia Human Phenotype Ontology C1849173 HP:0007165 16 Feb 2016 Finding Periventricular Heterotopia C2678104 16 Feb 2016 Disease Periventricular heterotopia with microcephaly CN259065 14 Jun 2019 Disease Periventricular leukomalacia Human Phenotype Ontology C0023529 HP:0006970 16 Feb 2016 Finding Periventricular nodular heterotopia OMIM phenotypic series C1868720 PS300049 16 Feb 2016 Disease Periventricular nodular heterotopia 1 NCBI curation C1848213 300049 27 Feb 2017 Disease Periventricular nodular heterotopia 6 NCBI curation C3809872 615544 16 Feb 2016 Disease Periventricular nodular heterotopia 7 NCBI curation C4310669 617201 20 Jun 2017 Disease PERIVENTRICULAR NODULAR HETEROTOPIA 8 OMIM C4748602 618185 618185 15 Nov 2018 Disease PERIVENTRICULAR NODULAR HETEROTOPIA 9 OMIM 618918 618918 01 Jul 2020 Disease Periventricular nodular heterotopia and epilepsy 29 Jan 2020 Disease Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay CN236338 15 Apr 2016 Disease Periventricular white matter hyperdensities Human Phenotype Ontology C4293686 HP:0030891 02 Apr 2017 Finding Periventricular white matter hypodensities Human Phenotype Ontology C4022720 HP:0012794 16 Feb 2016 Finding Periventricular white matter T2 hyperintense signal 23 Jan 2020 Finding Perlecan-related bone disorder MONDO CN227675 MONDO:0019689 17 Apr 2020 Disease Perlman syndrome MONDO C0796113 MONDO:0009965 267000 17 Apr 2020 Disease Permanent atrial fibrillation Human Phenotype Ontology C2586056 HP:0004754 16 Feb 2016 Finding Permanent congenital hypothyroidism MONDO CN226919 MONDO:0016408 17 Apr 2020 Disease Permanent junctional reciprocating tachycardia Human Phenotype Ontology C0340483 HP:0011690 16 Feb 2016 Finding Permanent neonatal diabetes mellitus MONDO C1833104 MONDO:0011643 606176 27 May 2020 Disease Pernicious anemia C0002892 170900 16 Feb 2016 Disease Peromelia Human Phenotype Ontology C4024192 HP:0009828 16 Feb 2016 Finding Peroneal muscle atrophy Human Phenotype Ontology C1389118 HP:0009049 16 Feb 2016 Finding Peroneal muscle weakness Human Phenotype Ontology C0240733 HP:0011727 16 Feb 2016 Finding Peroneal nerve paralysis MONDO C0270810 MONDO:0006903 17 Apr 2020 Disease Peroneal nerve, accessory deep MONDO C1868426 MONDO:0008229 170980 22 Apr 2020 Disease Peroneal neuropathy MONDO C0747533 MONDO:0002910 17 Apr 2020 Disease Peroneus tertius muscle, absence of NCBI curation C1850001 261400 16 Feb 2016 Disease Peroxidase, salivary NCBI curation C1868425 170990 16 Feb 2016 Disease Peroxisomal acyl-CoA oxidase deficiency MONDO C1849678 MONDO:0009919 264470 22 Apr 2020 Disease Peroxisomal beta-oxidation disorder MONDO CN227598 MONDO:0019233 17 Apr 2020 Disease Peroxisomal biogenesis disorder 3b NCBI curation C3551381 13 Feb 2017 Disease Peroxisomal disease with epilepsy MONDO CN201329 MONDO:0016398 17 Apr 2020 Disease Peroxisomal disorder C0282528 02 Aug 2019 Finding Peroxisomal fatty acyl-coa reductase 1 disorder NCBI curation C4015344 616154 16 Feb 2016 Disease Peroxisome biogenesis disorder 30 Jun 2019 Disease Peroxisome biogenesis disorder 10A NCBI curation C3553999 614882 16 Feb 2016 Disease Peroxisome biogenesis disorder 10b NCBI curation C4479254 617370 20 Jun 2017 Disease Peroxisome biogenesis disorder 11A NCBI curation C3554000 614883 16 Feb 2016 Disease Peroxisome biogenesis disorder 11B NCBI curation C3554001 614885 16 Feb 2016 Disease Peroxisome biogenesis disorder 12A NCBI curation C3554002 614886 16 Feb 2016 Disease Peroxisome biogenesis disorder 13A NCBI curation C3554004 614887 16 Feb 2016 Disease Peroxisome biogenesis disorder 14B NCBI curation C3554055 614920 16 Feb 2016 Disease Peroxisome biogenesis disorder 1A (Zellweger) NCBI curation C4721541 214100 25 Jun 2019 Disease Peroxisome biogenesis disorder 1B NCBI curation C0282527 601539 16 Feb 2016 Disease Peroxisome biogenesis disorder 2A (Zellweger) NCBI curation C3550273 214110 26 Jun 2019 Disease Peroxisome biogenesis disorder 3A NCBI curation C3553929 614859 16 Feb 2016 Disease Peroxisome biogenesis disorder 4a (zellweger) NCBI curation C3553936 614862 24 Aug 2016 Disease Peroxisome biogenesis disorder 4B NCBI curation C3553937 614863 16 Feb 2016 Disease Peroxisome biogenesis disorder 5a (zellweger) NCBI curation C3553940 614866 24 Aug 2016 Disease Peroxisome biogenesis disorder 5B NCBI curation C3542026 614867 16 Feb 2016 Disease Peroxisome biogenesis disorder 6A NCBI curation C3553947 614870 16 Feb 2016 Disease Peroxisome biogenesis disorder 6B NCBI curation C3553948 614871 16 Feb 2016 Disease Peroxisome biogenesis disorder 7A NCBI curation C3888385 614872 16 Feb 2016 Disease Peroxisome biogenesis disorder 7B NCBI curation C3553951 614873 16 Feb 2016 Disease Peroxisome biogenesis disorder 8A NCBI curation C3553959 614876 16 Feb 2016 Disease Peroxisome biogenesis disorder 8B NCBI curation C3553960 614877 16 Feb 2016 Disease Peroxisome biogenesis disorder 9B NCBI curation CN159238 614879 16 Feb 2016 Disease Peroxisome biogenesis disorder, complementation group 1 NCBI curation C1865803 16 Feb 2016 Disease Peroxisome biogenesis disorder, complementation group 10 NCBI curation CN159246 16 Feb 2016 Disease Peroxisome biogenesis disorder, complementation group 12 NCBI curation C1864171 16 Feb 2016 Disease Peroxisome biogenesis disorder, complementation group 13 NCBI curation C1866259 16 Feb 2016 Disease Peroxisome biogenesis disorder, complementation group 14 NCBI curation C1838299 16 Feb 2016 Disease Peroxisome biogenesis disorder, complementation group 2 NCBI curation C3550274 16 Feb 2016 Disease Peroxisome biogenesis disorder, complementation group 3 NCBI curation C1866340 16 Feb 2016 Disease Peroxisome biogenesis disorder, complementation group 5 NCBI curation C3553941 16 Feb 2016 Disease Peroxisome biogenesis disorder, complementation group 6 NCBI curation C1832231 16 Feb 2016 Disease Peroxisome biogenesis disorder, complementation group 7 NCBI curation C1864399 16 Feb 2016 Disease Peroxisome biogenesis disorder, complementation group 9 NCBI curation C1863998 16 Feb 2016 Disease Peroxisome biogenesis disorder, complementation group A NCBI curation 16 Feb 2016 Disease Peroxisome biogenesis disorder, complementation group K NCBI curation C1866257 24 Dec 2017 Disease Peroxisome biogenesis disorder, complementation group R NCBI curation C1866352 16 Feb 2016 Disease Peroxisome biogenesis disorders NCBI curation CN168920 16 Feb 2016 Disease Peroxisome biogenesis disorders, Zellweger syndrome spectrum NCBI curation C1832200 16 Feb 2016 Disease PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA POLYMORPHISM 21 Apr 2019 Disease Perphenazine response NCBI curation CN221261 16 Feb 2016 Pharmacological response Perrault syndrome OMIM phenotypic series C0685838 PS233400 06 Apr 2018 Disease Perrault syndrome Orphanet C0685838 ORPHA2855 06 Apr 2018 Disease Perrault syndrome 1 NCBI curation C4551721 233400 06 Apr 2018 Disease Perrault syndrome 2 NCBI curation C3554105 614926 16 Feb 2016 Disease Perrault syndrome 3 NCBI curation C3808414 614129 24 Aug 2016 Disease Perrault syndrome 4 NCBI curation C3809105 615300 16 Feb 2016 Disease Perrault syndrome 5 NCBI curation C4015307 616138 16 Feb 2016 Disease Perrault syndrome 6 NCBI curation C4479656 617565 06 Apr 2018 Disease Perry syndrome C1868594 168605 16 Feb 2016 Disease Perseveration Human Phenotype Ontology C0233651 HP:0030223 16 Feb 2016 Finding Persian gulf syndrome MONDO C0282550 MONDO:0005907 17 Apr 2020 Disease Persistence of hemoglobin F Human Phenotype Ontology C0239941 HP:0011904 16 Feb 2016 Finding Persistence of primary teeth Human Phenotype Ontology C0266050 HP:0006335 16 Feb 2016 Finding persistent asthma 05 Sep 2019 Disease Persistent bleeding after trauma Human Phenotype Ontology C1844374 HP:0001934 16 Feb 2016 Finding Persistent cloaca Human Phenotype Ontology C0266225 HP:0012621 16 Feb 2016 Finding Persistent combined dystonia MONDO CN229150 MONDO:0018329 17 Apr 2020 Disease Persistent eustachian valve MONDO C5190784 MONDO:0020449 17 Apr 2020 Disease Persistent fetal circulation syndrome MONDO C0031190 MONDO:0022430 265380 22 Apr 2020 Disease Persistent fifth aortic arch MONDO C0345066 MONDO:0020414 17 Apr 2020 Disease Persistent hyperplastic primary vitreous OMIM phenotypic series C0266568 PS221900 16 Feb 2016 Disease Persistent hyperplastic primary vitreous, autosomal dominant NCBI curation C1969784 611308 16 Feb 2016 Disease Persistent hyperplastic primary vitreous, autosomal recessive NCBI curation C1969783 221900 16 Feb 2016 Disease Persistent hypotonia CN235879 02 Apr 2016 Finding Persistent idiopathic facial pain MONDO C5191641 MONDO:0018362 17 Apr 2020 Disease Persistent lactic acidosis Human Phenotype Ontology C3554538 HP:0004898 16 Feb 2016 Finding Persistent left superior vena cava Human Phenotype Ontology C0265931 HP:0005301 16 Feb 2016 Finding Persistent left superior vena cava connecting to the left-sided atrium MONDO CN207302 MONDO:0020440 17 Apr 2020 Disease Persistent Mullerian duct syndrome C1849930 261550 16 Feb 2016 Disease Persistent mullerian duct syndrome, type I NCBI curation C3897939 26 May 2016 Disease Persistent mullerian duct syndrome, type II NCBI curation C3897940 26 May 2016 Disease Persistent open anterior fontanelle Human Phenotype Ontology C1849537 HP:0004474 16 Feb 2016 Finding Persistent parvovirus infection 16 Feb 2016 Disease Persistent patent ductus venosus Human Phenotype Ontology C4023072 HP:0012021 16 Feb 2016 Finding Persistent placoid maculopathy MONDO C4304823 MONDO:0019973 17 Apr 2020 Disease Persistent polyclonal B-cell lymphocytosis NCBI curation C1847973 606445 16 Feb 2016 Disease Persistent pupillary membrane Human Phenotype Ontology C0344541 HP:0009917 16 Feb 2016 Finding Persistent repetition of actions Human Phenotype Ontology C4531123 HP:0031432 04 Apr 2018 Finding Persistent repetition of words Human Phenotype Ontology C4531124 HP:0031431 04 Apr 2018 Finding Persistent stapedial artery Human Phenotype Ontology C4023339 HP:0011475 16 Feb 2016 Finding Persistent truncus arteriosus C0041207 16 Feb 2016 Disease personal and family history of cancer 15 Apr 2019 Finding Personal and/or Family History of Cardiomyopathy 26 Oct 2017 Disease personal history of disorders of nervous system sense organs 05 Sep 2019 Finding Personality changes Human Phenotype Ontology C0240735 HP:0000751 16 Feb 2016 Finding Personality disorder Human Phenotype Ontology C0031212 HP:0012075 16 Feb 2016 Finding Personality disorder (disease) MONDO MONDO:0002028 17 Apr 2020 Disease Pertussis C0043167 16 Feb 2016 Infectious disease Pertuzumab response NCBI curation CN233145 16 Feb 2016 Pharmacological response pervasive developmental 05 Sep 2019 Finding Pervasive developmental delay CN234396 16 Feb 2016 Finding pervasive developmental developmental disorders 05 Sep 2019 Finding Pervasive developmental disorder - not otherwise specified MONDO MONDO:0005261 17 Apr 2020 Disease pervasive sensory developmental disorders 05 Sep 2019 Finding Pes anserinus tendinitis or bursitis MONDO MONDO:0001533 17 Apr 2020 Disease Pes cavus Human Phenotype Ontology C0728829 HP:0001761 16 Feb 2016 Finding Pes planus Human Phenotype Ontology C0016202 HP:0001763 16 Feb 2016 Finding Pes valgus Human Phenotype Ontology C1578482 HP:0008081 02 Apr 2017 Finding Pestis minor MONDO C0275757 MONDO:0000238 04 Jun 2020 Infectious disease Pestivirus infectious disease MONDO C0206611 MONDO:0005909 04 Jun 2020 Infectious disease Petechiae Human Phenotype Ontology C0031256 HP:0000967 16 Feb 2016 Finding Peters anomaly, psychomotor delay CN235147 16 Feb 2016 Finding Peters anomaly-cataract syndrome MONDO C2931652 MONDO:0015095 17 Apr 2020 Disease Peters plus syndrome C0796012 261540 16 Feb 2016 Disease Petit Fryns syndrome 16 Feb 2016 Disease Petroclival meningioma MONDO C1335395 MONDO:0004367 17 Apr 2020 Disease Petrositis MONDO C0155448 MONDO:0001109 17 Apr 2020 Disease Petrous apex meningioma MONDO C1335396 MONDO:0004238 17 Apr 2020 Disease Pettigrew syndrome NCBI curation C0796254 304340 24 Aug 2016 Disease Peutz-Jeghers polyp MONDO C0456487 MONDO:0006365 17 Apr 2020 Disease Peutz-Jeghers polyp of the stomach MONDO C1335398 MONDO:0006366 17 Apr 2020 Disease Peutz-Jeghers syndrome NCBI curation C0031269 175200 16 Feb 2016 Disease PEX6 POLYMORPHISM 22 Feb 2018 Disease PEX7-Related Disorders CN239409 02 Dec 2016 Disease PFAPA syndrome MONDO C4082167 MONDO:0018540 17 Apr 2020 Disease Pfeiffer Kapferer syndrome 16 Feb 2016 Disease Pfeiffer Mayer syndrome 16 Feb 2016 Disease Pfeiffer Rockelein syndrome C2931656 16 Feb 2016 Disease Pfeiffer syndrome C0220658 101600 16 Feb 2016 Disease Pfeiffer syndrome type 1 MONDO CN270734 MONDO:0019659 07 Jun 2020 Disease Pfeiffer syndrome type 2 CN257763 02 Nov 2018 Disease Pfeiffer syndrome variant NCBI curation 16 Feb 2016 Disease Pfeiffer syndrome, type III NCBI curation C4016345 26 Jul 2016 Disease Pfeiffer Tietze Welte syndrome C2931657 16 Feb 2016 Disease Pfeiffer-Palm-Teller syndrome MONDO C1849929 MONDO:0009858 261560 22 Apr 2020 Disease Pfieffer syndrome type 1 CN257765 02 Nov 2018 Disease PGM1-Related Disorders 23 May 2019 Disease Ph-positive acute lymphoblastic leukemia Human Phenotype Ontology C1709527 HP:0004848 16 Feb 2016 Finding PHACE syndrome NCBI curation C1847874 606519 16 Feb 2016 Disease Phacolytic glaucoma MONDO C0152137 MONDO:0001553 17 Apr 2020 Disease Phacomatosis fourth 16 Feb 2016 Disease Phacomatosis pigmentokeratotica 16 Feb 2016 Disease Phacomatosis pigmentovascularis 16 Feb 2016 Disease Phaeohyphomycosis MONDO C0276721 MONDO:0001867 04 Jun 2020 Infectious disease Phagocyte bactericidal dysfunction MONDO C0031306 MONDO:0005910 17 Apr 2020 Disease Phagocytic cell dysfunction MONDO C0398732 MONDO:0024627 17 Apr 2020 Disease Phagocytosis, plasma-related defect 1N MONDO C1868402 MONDO:0008232 171100 17 Apr 2020 Disease Phakodonesis Human Phenotype Ontology C2939415 HP:0012629 04 Apr 2018 Finding Phakomatosis cesioflammea MONDO C3838883 MONDO:0019325 17 Apr 2020 Disease Phakomatosis cesiomarmorata MONDO C3839296 MONDO:0019326 17 Apr 2020 Disease Phakomatosis pigmentokeratotica MONDO C2931658 MONDO:0017317 17 Apr 2020 Disease Phakomatosis spilorosea MONDO C3839763 MONDO:0019327 17 Apr 2020 Disease Phakomatosis with eye involvement MONDO MONDO:0020271 17 Apr 2020 Disease Phalangeal dislocation Human Phenotype Ontology C2673396 HP:0006243 16 Feb 2016 Finding Phalangeal microgeodic syndrome MONDO C4749465 MONDO:0018128 17 Apr 2020 Disease Phalanx chondroma MONDO MONDO:0000516 17 Apr 2020 Disease pharmacoresistant multifocal epilepsy 12 Sep 2018 Disease Pharyngeal adenoid cystic carcinoma MONDO C1335399 MONDO:0006367 17 Apr 2020 Disease Pharyngeal edema Human Phenotype Ontology C0236024 HP:0011855 16 Feb 2016 Finding Pharyngeal squamous cell carcinoma MONDO C1319317 MONDO:0000536 17 Apr 2020 Disease Pharyngeal-cervical-brachial variant of Guillain-Barre syndrome MONDO C5190783 MONDO:0016496 17 Apr 2020 Disease Pharyngitis Human Phenotype Ontology C0031350 HP:0025439 04 Apr 2018 Finding Pharyngoconjunctival fever MONDO C0031351 MONDO:0005911 04 Jun 2020 Infectious disease Pharynx cancer MONDO MONDO:0005517 17 Apr 2020 Disease Pharynx carcinoma in situ MONDO C0347098 MONDO:0000372 17 Apr 2020 Disease Pharynx neoplasm MONDO MONDO:0021246 17 Apr 2020 Disease PHAVER syndrome C1849928 261575 16 Feb 2016 Disease Phenacetin metabolism, defect in NCBI curation 16 Feb 2016 Disease Phenacetin o-deethylase, deficiency of NCBI curation 16 Feb 2016 Disease Phencyclidine abuse MONDO MONDO:0005912 17 Apr 2020 Disease Phenformin 4-hydroxylation NCBI curation C1849927 261590 16 Feb 2016 Disease Phenobarbital antenatal infection 16 Feb 2016 Disease Phenobarbital embryopathy C4275281 16 Feb 2016 Disease Phenothiazine antenatal infection 16 Feb 2016 Disease Phenotype is progressive CN235930 08 Apr 2016 Finding Phenotype modifier, association with CN231070 16 Feb 2016 Disease Phenotypic abnormality CN225383 16 Feb 2016 Finding phenprocoumon response - Dosage PharmGKB CN236542 1184661207 18 May 2016 Pharmacological response Phenylketonuria NCBI curation C0751434 261600 16 Feb 2016 Disease Phenylketonuric embryopathy 16 Feb 2016 Disease Phenylpyruvic acidemia Human Phenotype Ontology C1849926 HP:0004920 16 Feb 2016 Finding Phenylthiocarbamide tasting NCBI curation C1868398 16 Feb 2016 Finding Phenytoin response NCBI curation CN069167 16 Feb 2016 Pharmacological response phenytoin response - Dosage PharmGKB CN236543 613978937 18 May 2016 Pharmacological response Phenytoin toxicity NCBI curation C0149969 617955 24 Jul 2019 Disease Pheochromocytoma Human Phenotype Ontology C0031511 HP:0002666 171300 16 Feb 2016 Disease Pheochromocytoma, childhood CN036354 16 Feb 2016 Disease Pheochromocytoma, modifier of NCBI curation 16 Feb 2016 Disease Pheochromocytoma, susceptibility to NCBI curation C3149711 16 Feb 2016 Disease Pheochromocytoma-islet cell tumor syndrome C1868392 171420 16 Feb 2016 Disease Pheochromocytoma-Paraganglioma CN882910 22 Mar 2018 Disease Philadelphia-negative chronic myeloid leukemia 16 Feb 2016 Disease Philadelphia-positive myelogenous leukemia MONDO C0023476 MONDO:0024685 17 Apr 2020 Disease Philophthalmiasis MONDO CN281922 MONDO:0000292 04 Jun 2020 Infectious disease Philtrum with midline raphe Human Phenotype Ontology C4021118 HP:0011826 16 Feb 2016 Finding Phimosis Human Phenotype Ontology C0345326 HP:0001741 16 Feb 2016 Finding PHIP-Related Disorder 29 Aug 2019 Disease PHIP-Related disorders 29 Aug 2019 Disease Phlebectasia of lips NCBI curation C1868391 171450 16 Feb 2016 Disease Phlebitis MONDO C0031542 MONDO:0004625 17 Apr 2020 Disease phlebitis and thrombophlebitis C1367972 14 Mar 2019 Finding Phlebotomus fever MONDO C0030372 MONDO:0005913 04 Jun 2020 Infectious disease Phlegmonous dacryocystitis MONDO C0155238 MONDO:0001611 17 Apr 2020 Disease Phlyctenulosis MONDO C0155080 MONDO:0001317 17 Apr 2020 Disease phobia 05 Sep 2019 Finding Phobia, specific NCBI curation C0236801 608251 16 Feb 2016 Disease Phobic disorder MONDO C0349231 MONDO:0003699 17 Apr 2020 Disease Phocomelia Human Phenotype Ontology C0031575 HP:0009829 16 Feb 2016 Disease Phocomelia contractures absent thumb 16 Feb 2016 Disease Phocomelia ectrodactyly deafness sinus arrhythmia 16 Feb 2016 Disease Phocomelia thrombocytopenia encephalocele 16 Feb 2016 Disease Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome MONDO C1868390 MONDO:0008237 171480 17 Apr 2020 Disease Phonagnosia MONDO MONDO:0000676 17 Apr 2020 Disease Phonic tics Human Phenotype Ontology C0751901 HP:0100035 16 Feb 2016 Finding phonological disorder 05 Sep 2019 Finding Phonophobia Human Phenotype Ontology C0751466 HP:0002183 16 Feb 2016 Finding Phosphatase, acid, of tissues NCBI curation C1876163 171660 16 Feb 2016 Disease Phosphate diabetes 16 Feb 2016 Disease Phosphate transport defect C0342749 232240 16 Feb 2016 Disease Phosphaturic mesenchymal tumor MONDO C1831619 MONDO:0006368 17 Apr 2020 Disease Phosphoenolpyruvate carboxykinase (GTP) deficiency C0268194 16 Feb 2016 Disease Phosphoenolpyruvate carboxykinase deficiency, cytosolic NCBI curation C1849814 261680 16 Feb 2016 Disease Phosphoenolpyruvate carboxykinase deficiency, mitochondrial NCBI curation C1849821 261650 16 Feb 2016 Disease Phosphoglucomutase 4 NCBI curation C1868356 172110 16 Feb 2016 Disease Phosphoglucomutase deficiency 16 Feb 2016 Disease Phosphoglucomutase deficiency type 1 16 Feb 2016 Disease Phosphoglucomutase deficiency type 2 16 Feb 2016 Disease Phosphoglucomutase deficiency type 3 16 Feb 2016 Disease Phosphoglucomutase deficiency type 4 16 Feb 2016 Disease Phosphoglycerate dehydrogenase deficiency NCBI curation C1866174 601815 16 Feb 2016 Disease Phosphoglycerate kinase 1 deficiency NCBI curation C1970848 300653 16 Feb 2016 Disease Phosphoglycerate kinase electrophoretic variant PGK II NCBI curation CN069394 16 Feb 2016 Named protein variant Phosphoglycoprotein 1 NCBI curation C1868352 172290 16 Feb 2016 Disease Phosphohydroxylysinuria NCBI curation C3554344 615011 16 Feb 2016 Disease Phospholipase a2, group IV a, deficiency of NCBI curation 26 May 2016 Disease Phosphomannoisomerase deficiency 16 Feb 2016 Disease Phosphoribosylpyrophosphate synthetase deficiency C1291401 16 Feb 2016 Disease Phosphoribosylpyrophosphate synthetase superactivity NCBI curation C1970827 300661 16 Feb 2016 Disease Phosphorus metabolism disease MONDO C0031707 MONDO:0002319 17 Apr 2020 Disease Phosphoserine aminotransferase deficiency NCBI curation C1970253 610992 16 Feb 2016 Disease Photoallergic dermatitis MONDO C0162824 MONDO:0006596 17 Apr 2020 Disease Photogenic epilepsy NCBI curation C0393720 16 Feb 2016 Disease Photokeratitis MONDO C0155078 MONDO:0001760 17 Apr 2020 Disease Photomyoclonic seizures Human Phenotype Ontology C4025791 HP:0001327 16 Feb 2016 Finding Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction C1809475 172500 16 Feb 2016 Disease Photoparoxysmal response 1 NCBI curation C1868677 132100 16 Feb 2016 Disease Photoparoxysmal response 2 NCBI curation C1835967 609572 16 Feb 2016 Disease Photoparoxysmal response 3 NCBI curation C1835966 609573 16 Feb 2016 Disease Photophobia Human Phenotype Ontology C0085636 HP:0000613 16 Feb 2016 Finding Photopsia Human Phenotype Ontology C0085635 HP:0030786 02 Apr 2017 Finding Photoreceptor layer loss on macular OCT Human Phenotype Ontology C4073079 HP:0030609 16 Feb 2016 Finding Photoreceptor outer segment loss on macular OCT Human Phenotype Ontology C4073080 HP:0030610 16 Feb 2016 Finding Photosensitive epilepsy 16 Feb 2016 Disease Photosensitive occipital lobe epilepsy MONDO MONDO:0100021 17 Apr 2020 Disease Photosensitive tonic-clonic seizures Human Phenotype Ontology C1846131 HP:0007207 16 Feb 2016 Finding Photosensitivity disease MONDO C0031762 MONDO:0006597 17 Apr 2020 Disease Phototoxic dermatitis MONDO C0162830 MONDO:0006598 17 Apr 2020 Disease Phrynoderma MONDO MONDO:0400004 17 Apr 2020 Disease Phthisical cornea MONDO C0155102 MONDO:0001368 17 Apr 2020 Disease Phthisis bulbi Human Phenotype Ontology C0271007 HP:0000667 16 Feb 2016 Finding phyllodes breast cancer CN235592 19 Mar 2016 Finding Phyllodes tumor MONDO C0010701 MONDO:0005078 17 Apr 2020 Disease Phyllodes tumor of the prostate 16 Feb 2016 Disease Physical characteristics compatible with velocardiofacial syndrome CN235295 20 Feb 2016 Finding Physical features suggestive of Costello Syndrome CN235296 20 Feb 2016 Finding Physical urticaria MONDO C4551831 MONDO:0006599 17 Apr 2020 Disease Physiological malfunction arising from mental factor MONDO C0154548 MONDO:0024316 17 Apr 2020 Disease Physiological polycythemia MONDO C0856817 MONDO:0004563 17 Apr 2020 Disease Phytanic acid storage disease C0034960 266500 16 Feb 2016 Disease PI B(ALHAMBRA) 16 Feb 2016 Named protein variant PI CHRISTCHURCH 16 Feb 2016 Named protein variant PI F 16 Feb 2016 Named protein variant PI I 16 Feb 2016 Named protein variant PI KALSHEKER-POLLER 16 Feb 2016 Named protein variant PI M(HEERLEN) 16 Feb 2016 Named protein variant PI M(MALTON) 16 Feb 2016 Named protein variant PI M(MINERAL SPRINGS) 16 Feb 2016 Named protein variant PI M(NICHINAN) 16 Feb 2016 Named protein variant PI M(PROCIDA) 16 Feb 2016 Named protein variant PI M1-ALA213 16 Feb 2016 Named protein variant PI M2 16 Feb 2016 Named protein variant PI M3 16 Feb 2016 Named protein variant PI M4 16 Feb 2016 Named protein variant PI NULL(BELLINGHAM) 16 Feb 2016 Named protein variant PI NULL(BOLTON) 16 Feb 2016 Named protein variant PI NULL(CARDIFF) 16 Feb 2016 Named protein variant PI NULL(DEVON) 16 Feb 2016 Named protein variant PI NULL(HONG KONG 1) 16 Feb 2016 Named protein variant PI NULL(HONG KONG 2) 16 Feb 2016 Named protein variant PI NULL(LUDWIGSHAFEN) 16 Feb 2016 Named protein variant PI NULL(MATTAWA) 16 Feb 2016 Named protein variant PI NULL(NEWPORT) 16 Feb 2016 Named protein variant PI NULL(PROCIDA) 16 Feb 2016 Named protein variant PI NULL(RIEDENBURG) 16 Feb 2016 Named protein variant PI NULL(WEST) 16 Feb 2016 Named protein variant PI P(DUARTE) 16 Feb 2016 Named protein variant PI P(LOWELL) 16 Feb 2016 Named protein variant PI P(ST. ALBANS) 16 Feb 2016 Named protein variant PI Q0(BELLINGHAM) 16 Feb 2016 Named protein variant PI Q0(BOLTON) 16 Feb 2016 Named protein variant PI Q0(CARDIFF) 16 Feb 2016 Named protein variant PI Q0(DEVON) 16 Feb 2016 Named protein variant PI Q0(GRANITE FALLS) 16 Feb 2016 Named protein variant PI Q0(HONG KONG 1) 16 Feb 2016 Named protein variant PI Q0(HONG KONG 2) 16 Feb 2016 Named protein variant PI Q0(LUDWIGSHAFEN) 16 Feb 2016 Named protein variant PI Q0(NEWPORT) 16 Feb 2016 Named protein variant PI S 16 Feb 2016 Named protein variant PI S(IIYAMA) 16 Feb 2016 Named protein variant PI V(MUNICH) 16 Feb 2016 Named protein variant PI W(BETHESDA) 16 Feb 2016 Named protein variant PI X 16 Feb 2016 Named protein variant PI Z 16 Feb 2016 Named protein variant PI Z(AUGSBURG) 16 Feb 2016 Named protein variant PI Z(BRISTOL) 16 Feb 2016 Named protein variant PI Z(TUN) 16 Feb 2016 Named protein variant PI Z(WREXHAM) 16 Feb 2016 Named protein variant PI, M1A 16 Feb 2016 Named protein variant PI, M1V 16 Feb 2016 Named protein variant Pica Human Phenotype Ontology C0031873 HP:0011856 16 Feb 2016 Finding Pica disease MONDO MONDO:0001441 17 Apr 2020 Disease Pick complex NCBI curation 16 Feb 2016 Disease Pick's disease C0236642 172700 16 Feb 2016 Disease Picornaviridae infectious disease MONDO C0031887 MONDO:0005914 04 Jun 2020 Infectious disease Piebald trait-neurologic defects syndrome MONDO C1868311 MONDO:0008245 172850 17 Apr 2020 Disease Piebaldism Human Phenotype Ontology CN006616 HP:0007544 16 Feb 2016 Finding Piebaldism with sensorineural deafness NCBI curation C4016294 16 Feb 2016 Disease Piebaldism, progressive NCBI curation C4016297 09 Sep 2018 Disease Piedra MONDO C0031898 MONDO:0000253 04 Jun 2020 Infectious disease Piepkorn Karp Hickok syndrome C2931016 16 Feb 2016 Disease Pierpont syndrome NCBI curation C1865644 602342 24 Aug 2016 Disease Pierre Marie cerebellar ataxia 16 Feb 2016 Disease pierre robin association 05 Sep 2019 Finding Pierre Robin sequence faciodigital anomaly 16 Feb 2016 Disease Pierre robin sequence with facial and digital anomalies NCBI curation C2931064 311895 16 Feb 2016 Disease Pierre Robin sequence with pectus excavatum and rib and scapular anomalies C1865783 602196 16 Feb 2016 Disease Pierre Robin syndrome associated with a chromosomal anomaly MONDO CN199291 MONDO:0015320 17 Apr 2020 Disease Pierre Robin syndrome associated with bone disease MONDO CN199293 MONDO:0015322 17 Apr 2020 Disease Pierre Robin syndrome associated with branchial archs anomalies MONDO CN199292 MONDO:0015321 17 Apr 2020 Disease Pierre Robin syndrome associated with collagen disease MONDO CN199289 MONDO:0015318 17 Apr 2020 Disease Pierre Robin syndrome skeletal dysplasia polydactyly 16 Feb 2016 Disease Pierre Robin-like syndrome CN239861 11 Jan 2017 Disease Pierson syndrome C1836876 609049 16 Feb 2016 Disease Piezogenic pedal papules Human Phenotype Ontology C0263654 HP:0025509 04 Apr 2018 Finding Pigeon-breeder lung disease MONDO C0031903 MONDO:0020536 17 Apr 2020 Disease PIGG-related neurodevelopmental disorder 01 May 2020 Finding Pigment deposition in the trabecular meshwork Human Phenotype Ontology C3805899 HP:0012631 16 Feb 2016 Finding Pigment dispersion syndrome C1271398 600510 16 Feb 2016 Disease Pigment gallstones Human Phenotype Ontology C3278865 HP:0011981 16 Feb 2016 Finding Pigmentary disorder, reticulate, with systemic manifestations, X-linked NCBI curation C1845050 301220 24 Aug 2016 Disease Pigmentary pallidal degeneration C0018523 234200 16 Feb 2016 Disease Pigmentary retinal degeneration Human Phenotype Ontology C1833999 HP:0001146 16 Feb 2016 Finding Pigmentary retinal deposits NCBI curation C1328514 16 Feb 2016 Finding Pigmentary retinal dystrophy C0311338 136880 16 Feb 2016 Disease Pigmentary retinopathy Human Phenotype Ontology C4551715 HP:0000580 03 Apr 2018 Disease Pigmentary retinopathy and sensorineural deafness NCBI curation C4016611 16 Feb 2016 Disease Pigmentation anomalies of sun-exposed skin Human Phenotype Ontology C4024826 HP:0007623 16 Feb 2016 Finding Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome MONDO C5193062 MONDO:0018657 07 Jun 2020 Disease Pigmentation disease MONDO MONDO:0006600 17 Apr 2020 Disease Pigmentation disorder with eye involvement MONDO MONDO:0020270 17 Apr 2020 Disease Pigmentation disorder with eye involvement, excluding albinism MONDO MONDO:0020276 17 Apr 2020 Disease Pigmentation of the sclera Human Phenotype Ontology C1859882 HP:0007832 16 Feb 2016 Finding Pigmented conjunctival lesion MONDO MONDO:0020203 17 Apr 2020 Disease Pigmented dermatofibrosarcoma protuberans MONDO C0334464 MONDO:0023273 17 Apr 2020 Disease Pigmented hair 20 Jun 2019 Finding Pigmented micronodular adrenocortical disease Human Phenotype Ontology C1968851 HP:0001580 16 Feb 2016 Finding Pigmented nodular adrenocortical disease, primary, 1 NCBI curation C1864846 610489 16 Feb 2016 Disease Pigmented nodular adrenocortical disease, primary, 2 NCBI curation C1864851 610475 16 Feb 2016 Disease Pigmented nodular adrenocortical disease, primary, 3 NCBI curation C3280094 614190 16 Feb 2016 Disease Pigmented nodular adrenocortical disease, primary, 4 NCBI curation C4014425 615830 16 Feb 2016 Disease Pigmented palpebral tumor MONDO MONDO:0020177 17 Apr 2020 Disease Pigmented paravenous chorioretinal atrophy NCBI curation C1868310 172870 16 Feb 2016 Disease Pigmented purpuric lichenoid dermatitis of Gougerot and Blum C0406515 172900 16 Feb 2016 Disease Pigmented spindle cell nevus MONDO C0474967 MONDO:0006905 17 Apr 2020 Disease Pigmented villonodular synovitis C0039106 16 Feb 2016 Disease PIGQ-related condition 19 Jul 2019 Finding PIGT-related disorder 13 Oct 2017 Disease PIK3CA related overgrowth spectrum NCBI curation CN233161 04 Nov 2016 Disease Pilar sheath acanthoma MONDO C0346005 MONDO:0006907 17 Apr 2020 Disease PILAROWSKI-BJORNSSON SYNDROME OMIM C4540131 617682 617682 23 Sep 2017 Disease Pili annulati C0263489 180600 16 Feb 2016 Disease Pili canaliculi Human Phenotype Ontology C1860608 HP:0002235 16 Feb 2016 Finding Pili multigemini 16 Feb 2016 Disease Pili torti Human Phenotype Ontology C0263491 HP:0003777 261900 16 Feb 2016 Finding Pili torti onychodysplasia 16 Feb 2016 Disease Pili torti-deafness syndrome C0266006 262000 16 Feb 2016 Disease Pili torti-developmental delay-neurological abnormalities syndrome MONDO C1849811 MONDO:0009871 261990 17 Apr 2020 Disease Pili torti-onychodysplasia syndrome MONDO C2931483 MONDO:0017321 17 Apr 2020 Disease Pill-rolling tremor Human Phenotype Ontology C0751564 HP:0025387 04 Apr 2018 Finding Pilo dento ungular dysplasia microcephaly 16 Feb 2016 Disease Pilocytic astrocytoma NCBI curation C0334583 16 Feb 2016 Disease Pilodental dysplasia-refractive errors syndrome MONDO C1849805 MONDO:0009873 262020 17 Apr 2020 Disease Pilomatrixoma Human Phenotype Ontology C0206711 HP:0030434 132600 16 Feb 2016 Disease Pilomyxoid astrocytoma MONDO C1519086 MONDO:0016692 17 Apr 2020 Disease Pilonidal abscess Human Phenotype Ontology C3537055 HP:0010771 16 Feb 2016 Finding pilonidal cyst withoutut abscess 05 Sep 2019 Finding Pilonidal fistula Human Phenotype Ontology CN911513 HP:0010770 04 Apr 2018 Finding Pilosebaceous hamartoma MONDO C1335410 MONDO:0020979 17 Apr 2020 Disease Pilotto syndrome C2931484 16 Feb 2016 Disease Pineal body neoplasm MONDO MONDO:0021232 17 Apr 2020 Disease Pineal cyst Human Phenotype Ontology C1335411 HP:0012683 16 Feb 2016 Finding pineal cyst/skeletal anomalies with elbows and flexed hands 22 Aug 2019 Finding Pineal gland astrocytoma MONDO C0280795 MONDO:0003171 17 Apr 2020 Disease Pineal gland calcification Human Phenotype Ontology C1398718 HP:0012682 16 Feb 2016 Finding Pineal gland cancer MONDO MONDO:0003249 17 Apr 2020 Disease Pineal hyperplasia AND diabetes mellitus syndrome C0271695 262190 16 Feb 2016 Disease Pineal parenchymal cell neoplasm Human Phenotype Ontology CN241427 HP:0030694 02 Apr 2017 Finding Pineal parenchymal tumor of intermediate differenciation MONDO CN201973 MONDO:0016725 17 Apr 2020 Disease Pineal parenchymal tumor of intermediate differentiation MONDO C1367859 MONDO:0006369 17 Apr 2020 Disease Pineal parenchymal tumors of intermediate differentiation 16 Feb 2016 Disease Pineal region choriocarcinoma MONDO C1335414 MONDO:0003509 17 Apr 2020 Disease Pineal region dysgerminoma MONDO C1335415 MONDO:0003480 17 Apr 2020 Disease Pineal region immature teratoma MONDO C1335416 MONDO:0004017 17 Apr 2020 Disease Pineal region mature teratoma MONDO C1335417 MONDO:0004016 17 Apr 2020 Disease Pineal region meningioma MONDO C1335418 MONDO:0004440 17 Apr 2020 Disease Pineal region teratoma MONDO C1335419 MONDO:0004015 17 Apr 2020 Disease Pineal region yolk sac tumor MONDO C1335420 MONDO:0003399 17 Apr 2020 Disease Pineal tumor of neuroepithelial tissue MONDO CN201969 MONDO:0016721 17 Apr 2020 Disease Pinealoma Human Phenotype Ontology C0031941 HP:0010799 16 Feb 2016 Finding Pineoblastoma Human Phenotype Ontology C0205898 HP:0030408 16 Feb 2016 Disease Pineoblastoma, childhood 16 Feb 2016 Disease Pineocytoma (disease) MONDO C0917890 MONDO:0016723 17 Apr 2020 Disease Pinguecula MONDO C0152255 MONDO:0001179 17 Apr 2020 Disease Pinheiro Freire-Maia Miranda syndrome 16 Feb 2016 Disease Pinhole visual acuity 0.1 LogMAR Human Phenotype Ontology C4073042 HP:0030569 16 Feb 2016 Finding Pinhole visual acuity 0.2 LogMAR Human Phenotype Ontology C4073043 HP:0030570 16 Feb 2016 Finding Pinhole visual acuity 0.3 LogMAR Human Phenotype Ontology C4073044 HP:0030571 16 Feb 2016 Finding Pinhole visual acuity 0.4 LogMAR Human Phenotype Ontology C4073045 HP:0030572 16 Feb 2016 Finding Pinhole visual acuity 0.5 LogMAR Human Phenotype Ontology C4073046 HP:0030573 16 Feb 2016 Finding Pinhole visual acuity 0.6 LogMAR Human Phenotype Ontology C4073047 HP:0030574 16 Feb 2016 Finding Pinhole visual acuity 0.7 LogMAR Human Phenotype Ontology C4073048 HP:0030575 16 Feb 2016 Finding Pinhole visual acuity 0.8 LogMAR Human Phenotype Ontology C4073049 HP:0030576 16 Feb 2016 Finding Pinhole visual acuity 0.9 LogMAR Human Phenotype Ontology C4073050 HP:0030577 16 Feb 2016 Finding Pinhole visual acuity 1.0 LogMAR Human Phenotype Ontology C4073051 HP:0030578 16 Feb 2016 Finding Pinhole visual acuity 1.1 LogMAR Human Phenotype Ontology C4073052 HP:0030579 16 Feb 2016 Finding Pinhole visual acuity 1.2 LogMAR Human Phenotype Ontology C4073053 HP:0030580 16 Feb 2016 Finding Pinhole visual acuity 1.3 LogMAR Human Phenotype Ontology C4073054 HP:0030581 16 Feb 2016 Finding Pinhole visual acuity 2.0 LogMAR Human Phenotype Ontology C4073055 HP:0030582 16 Feb 2016 Finding Pinhole visual acuity 3.0 LogMAR Human Phenotype Ontology C4073056 HP:0030583 16 Feb 2016 Finding PINK1-Related Parkinsonism 13 Oct 2017 Disease Pinnae and external auditory canal anomaly MONDO CN226691 MONDO:0015502 17 Apr 2020 Disease Pinnae fistula or cyst MONDO CN228949 MONDO:0015477 17 Apr 2020 Disease Pinta 16 Feb 2016 Disease Pinta disease MONDO C0031946 MONDO:0000979 04 Jun 2020 Infectious disease Pioglitazone response NCBI curation CN427422 01 Sep 2017 Pharmacological response Piriformis syndrome C0458224 16 Feb 2016 Disease Piroxicam response NCBI curation CN258188 07 Feb 2019 Pharmacological response PISD-related mitochondrial disease 17 Jan 2019 Disease Pit and fissure surface dental caries MONDO MONDO:0005591 17 Apr 2020 Disease Pits of palms and soles C3805371 16 Feb 2016 Finding Pitt-Hopkins syndrome C1970431 610954 16 Feb 2016 Disease Pitt-Hopkins-like syndrome Orphanet C4751168 ORPHA221150 26 Dec 2016 Disease Pitt-Hopkins-like syndrome 1 NCBI curation C2750246 610042 03 Jul 2018 Disease Pitt-Hopkins-like syndrome 2 NCBI curation C3280479 614325 16 Feb 2016 Disease Pituicytoma Human Phenotype Ontology C2986550 HP:0011754 16 Feb 2016 Finding Pituitary acidophilic stem cell adenoma Human Phenotype Ontology C4023201 HP:0011758 16 Feb 2016 Finding Pituitary adenoma OMIM phenotypic series C0032000 PS102200 16 Feb 2016 Finding Pituitary adenoma Human Phenotype Ontology C0032000 HP:0002893 16 Feb 2016 Finding Pituitary adenoma 2, GH-secreting CN259066 14 Jun 2019 Disease PITUITARY ADENOMA 3, MULTIPLE TYPES OMIM C4540135 617686 617686 28 Sep 2017 Disease PITUITARY ADENOMA 5, MULTIPLE TYPES OMIM C4539685 617540 617540 28 Sep 2017 Disease Pituitary adenoma predisposition NCBI curation C1863340 16 Feb 2016 Disease Pituitary adenoma, familial isolated NCBI curation C2676191 16 Feb 2016 Disease Pituitary adenoma, growth hormone-secreting, 2 NCBI curation C4012409 300943 16 Feb 2016 Disease Pituitary apoplexy MONDO C0032001 MONDO:0006908 17 Apr 2020 Disease Pituitary calcification Human Phenotype Ontology C4023797 HP:0010513 16 Feb 2016 Finding Pituitary cancer C0496842 16 Feb 2016 Disease Pituitary carcinoma Human Phenotype Ontology C0346300 HP:0011763 16 Feb 2016 Finding Pituitary corticotropic cell adenoma Human Phenotype Ontology C1306214 HP:0008291 16 Feb 2016 Finding pituitary cyst C0342420 18 Jan 2019 Finding Pituitary deficiency due to empty sella turcica syndrome MONDO C4275064 MONDO:0019617 17 Apr 2020 Disease Pituitary deficiency due to Rathke's pouch cysts MONDO C5190782 MONDO:0019614 17 Apr 2020 Disease Pituitary dependent hypercortisolism NCBI curation C0221406 219090 16 Feb 2016 Disease Pituitary dermoid and epidermoid cysts MONDO C5190781 MONDO:0019615 17 Apr 2020 Disease Pituitary dwarfism Human Phenotype Ontology C0013338 HP:0000839 16 Feb 2016 Finding Pituitary dwarfism with large sella turcica C0271575 262710 16 Feb 2016 Disease Pituitary gigantism MONDO C0017547 MONDO:0020479 17 Apr 2020 Disease Pituitary gland acidophil adenoma MONDO C0001433 MONDO:0006634 17 Apr 2020 Disease Pituitary gland basophil adenoma MONDO C0001431 MONDO:0006673 17 Apr 2020 Disease Pituitary gland basophilic carcinoma MONDO C1704778 MONDO:0003202 17 Apr 2020 Disease Pituitary gland disease MONDO MONDO:0003381 17 Apr 2020 Disease Pituitary gland hypoplasia C0948740 15 Mar 2018 Finding Pituitary gland infarction MONDO C0342405 MONDO:0001259 17 Apr 2020 Disease Pituitary gland mixed eosinophil-basophil adenoma MONDO C0334312 MONDO:0004133 17 Apr 2020 Disease Pituitary gonadotropic cell adenoma Human Phenotype Ontology C4021122 HP:0011759 16 Feb 2016 Finding Pituitary growth hormone cell adenoma Human Phenotype Ontology C4018860 HP:0011760 16 Feb 2016 Finding Pituitary hormone deficiency from meningeal origin MONDO CN229230 MONDO:0019834 17 Apr 2020 Disease Pituitary hormone deficiency from tumoral origin MONDO CN206780 MONDO:0019833 17 Apr 2020 Disease Pituitary hormone deficiency secondary to a granulomatous disease MONDO CN206787 MONDO:0019843 17 Apr 2020 Disease Pituitary hormone deficiency secondary to storage disease MONDO CN206788 MONDO:0019844 17 Apr 2020 Disease Pituitary hormone deficiency, combined OMIM phenotypic series CN078207 PS613038 16 Feb 2016 Disease Pituitary hormone deficiency, combined 2 NCBI curation C0878683 262600 16 Feb 2016 Disease Pituitary hormone deficiency, combined 5 NCBI curation CN042968 16 Feb 2016 Disease Pituitary hormone deficiency, combined 6 NCBI curation C3151440 613986 16 Feb 2016 Disease Pituitary hormone deficiency, combined, 1 MONDO C2751608 MONDO:0024464 613038 22 Apr 2020 Disease Pituitary hormone defiency from vascular origin MONDO CN261545 MONDO:0019841 17 Apr 2020 Disease Pituitary hypothyroidism Human Phenotype Ontology C3665349 HP:0008245 16 Feb 2016 Finding Pituitary null cell adenoma Human Phenotype Ontology C0338078 HP:0011761 16 Feb 2016 Finding Pituitary resistance to thyroid hormone Human Phenotype Ontology C0342198 HP:0008227 16 Feb 2016 Finding Pituitary spindle cell oncocytoma Human Phenotype Ontology C4023200 HP:0011764 16 Feb 2016 Finding Pituitary stalk interruption syndrome NCBI curation C4053775 16 Feb 2016 Disease Pituitary stalk meningioma MONDO C1335422 MONDO:0004447 17 Apr 2020 Disease Pituitary thyrotropic cell adenoma Human Phenotype Ontology C4021121 HP:0011762 16 Feb 2016 Finding PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC 28 Sep 2017 Disease PITX2-Related Eye Abnormalities CN239168 02 Dec 2016 Disease Pityriasis alba MONDO MONDO:0024349 17 Apr 2020 Disease Pityriasis amiantacea MONDO C0343100 MONDO:0024346 17 Apr 2020 Disease Pityriasis folliculorum MONDO C0406312 MONDO:0024344 17 Apr 2020 Disease Pityriasis lichenoides C0162853 16 Feb 2016 Disease Pityriasis lichenoides chronica 16 Feb 2016 Disease Pityriasis lichenoides et varioliformis acuta 16 Feb 2016 Disease Pityriasis rosea MONDO C0032026 MONDO:0006601 17 Apr 2020 Disease Pityriasis rotunda MONDO C0343060 MONDO:0023388 17 Apr 2020 Disease Pityriasis rubra pilaris C0032027 173200 16 Feb 2016 Disease Pityriasis simplex MONDO C0423775 MONDO:0024343 17 Apr 2020 Disease Pityriasis steatoides MONDO C1274781 MONDO:0024350 17 Apr 2020 Disease Pityriasis streptogenes MONDO C0085657 MONDO:0024345 17 Apr 2020 Disease Pityriasis versicolor MONDO C0040262 MONDO:0005915 04 Jun 2020 Infectious disease Piussan Lenaerts Mathieu syndrome 16 Feb 2016 Disease PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM 16 Feb 2016 Disease PLA2G6-associated neurodegeneration Orphanet CN204472 ORPHA329303 25 Feb 2018 Disease Placenta accreta MONDO C0032044 MONDO:0005916 17 Apr 2020 Disease Placenta cancer MONDO C0153572 MONDO:0002178 17 Apr 2020 Disease Placenta disease MONDO MONDO:0005917 17 Apr 2020 Disease Placenta neoplasm 16 Feb 2016 Disease Placenta praevia MONDO MONDO:0005918 17 Apr 2020 Disease Placental abruption Human Phenotype Ontology C0000832 HP:0011419 16 Feb 2016 Finding Placental abruption (disease) MONDO MONDO:0004846 17 Apr 2020 Disease Placental choriocarcinoma MONDO C0855173 MONDO:0006374 17 Apr 2020 Disease Placental infarction Human Phenotype Ontology C0554393 HP:0011416 16 Feb 2016 Finding Placental insufficiency MONDO C0032051 MONDO:0005919 17 Apr 2020 Disease Placental villitis MONDO C1270169 MONDO:0005250 17 Apr 2020 Disease placentomegaly C2363734 16 Feb 2016 Finding Placoid macular lesion Human Phenotype Ontology C4476596 HP:0025110 02 Apr 2017 Finding Plagiocephaly Human Phenotype Ontology C0265529 HP:0001357 16 Feb 2016 Finding Plagiocephaly and X-linked mental retardation C2931516 16 Feb 2016 Disease plano valgus 05 Sep 2019 Finding Plantar crease between first and second toes Human Phenotype Ontology C1867132 HP:0008107 16 Feb 2016 Finding Plantar edema Human Phenotype Ontology C0240772 HP:0025537 04 Apr 2018 Finding Plantar fasciitis MONDO C0149756 MONDO:0004833 17 Apr 2020 Disease Plantar fibromas NCBI curation 16 Feb 2016 Disease Plantar fibromatosis MONDO MONDO:0004684 17 Apr 2020 Disease Plantar fibromatosis, familial NCBI curation 16 Feb 2016 Disease Plantar flexion contractures Human Phenotype Ontology C1861239 HP:0008112 16 Feb 2016 Finding Plantar hyperkeratosis Human Phenotype Ontology C1856954 HP:0007556 16 Feb 2016 Finding Plantar nerve lesion MONDO C0154752 MONDO:0001541 17 Apr 2020 Disease Plantar pits Human Phenotype Ontology C1852301 HP:0010612 16 Feb 2016 Finding Plantar telangiectasia Human Phenotype Ontology C4020947 HP:0100870 16 Feb 2016 Finding Plantar verrucous skin carcinoma MONDO C1335424 MONDO:0002765 17 Apr 2020 Disease Plantar wart MONDO C0042548 MONDO:0001795 04 Jun 2020 Infectious disease Plaque-form urticaria pigmentosa MONDO MONDO:0015555 17 Apr 2020 Disease Plaque-like facial hemangioma Human Phenotype Ontology C1847884 HP:0007434 16 Feb 2016 Finding Plasma beta-amyloid-42 level quantitative trait locus NCBI curation 16 Feb 2016 Disease Plasma cell leukemia C0023484 16 Feb 2016 Disease Plasma cell neoplasm MONDO C1959632 MONDO:0004959 17 Apr 2020 Disease Plasma clot retraction factor, deficiency of NCBI curation C1849778 262800 16 Feb 2016 Disease Plasma fibronectin deficiency NCBI curation C2675436 614101 16 Feb 2016 Disease Plasma glucose, 2-hour, quantitative trait locus 1 NCBI curation 16 Feb 2016 Disease Plasma glucose, 2-hour, quantitative trait locus 2 NCBI curation 16 Feb 2016 Disease Plasma level of carotenoids quantitative trait locus 1 NCBI curation 16 Feb 2016 Finding plasma Phe concentration was >120 µmol/L, and BH4 deficiency was excluded from this case. NCBI curation 12 Apr 2016 Finding Plasma protein metabolism disease MONDO MONDO:0002273 17 Apr 2020 Disease Plasma triglyceride level quantitative trait locus NCBI curation C4014553 615881 16 Feb 2016 Disease Plasmablastic lymphoma MONDO C3472614 MONDO:0017347 17 Apr 2020 Disease Plasmacytoid variant infiltrating bladder urothelial carcinoma MONDO C1512742 MONDO:0004416 17 Apr 2020 Disease Plasmacytoma Human Phenotype Ontology C0032131 HP:0011857 16 Feb 2016 Finding Plasmacytoma anaplastic 16 Feb 2016 Disease Plasmacytosis Human Phenotype Ontology C0549295 HP:0030150 16 Feb 2016 Finding Plasmalogens synthesis deficiency isolated 16 Feb 2016 Disease Plasminogen deficiency, type I NCBI curation C1968804 217090 16 Feb 2016 Disease Plasmodium falciparum blood infection level NCBI curation C1855456 248310 16 Feb 2016 Disease Plasmodium falciparum fever episodes quantitative trait locus 1 NCBI curation C1969647 611384 16 Feb 2016 Disease Plasmodium falciparum malaria MONDO C0024535 MONDO:0005920 04 Jun 2020 Infectious disease Plasmodium malariae malaria MONDO C0024536 MONDO:0001943 04 Jun 2020 Infectious disease Plasmodium ovale malaria MONDO C0152072 MONDO:0001601 04 Jun 2020 Infectious disease Plasmodium vivax malaria MONDO C0024537 MONDO:0005921 04 Jun 2020 Infectious disease Plasmodium vivax, resistance to NCBI curation C1970105 17 Dec 2017 Disease Plastic bronchitis MONDO C0264342 MONDO:0018597 17 Apr 2020 Disease PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE OMIM C4540232 617718 617718 29 Oct 2017 Disease Platelet adenylate cyclase activity NCBI curation C1868264 173395 16 Feb 2016 Disease Platelet aggregation, spontaneous MONDO C1868263 MONDO:0008253 173400 22 Apr 2020 Disease Platelet alpha/delta storage pool deficiency NCBI curation 16 Feb 2016 Disease Platelet antibody positive Human Phenotype Ontology C1858980 HP:0003454 16 Feb 2016 Finding Platelet disorder, undefined NCBI curation C1868258 173420 16 Feb 2016 Disease Platelet factor 3 deficiency NCBI curation C1868256 173450 16 Feb 2016 Disease PLATELET GLYCOPROTEIN Ib POLYMORPHISM 16 Feb 2016 Disease Platelet glycoprotein IV deficiency NCBI curation C1842090 608404 16 Feb 2016 Disease Platelet groups--ko system NCBI curation CN240900 173500 20 Jun 2017 Disease Platelet groups--pl(e) system NCBI curation C1868202 173540 24 Aug 2016 Disease Platelet membrane fluidity NCBI curation C1868201 173560 16 Feb 2016 Disease Platelet prostacyclin receptor defect NCBI curation C1849774 262875 16 Feb 2016 Disease Platelet responsiveness to adrenaline, depressed NCBI curation C1868200 173580 16 Feb 2016 Disease Platelet signal processing defect NCBI curation C1868199 173590 16 Feb 2016 Disease Platelet-activating factor acetylhydrolase deficiency Human Phenotype Ontology C3280315 HP:0040175 614278 16 Feb 2016 Finding PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM 16 Feb 2016 Disease Platelet-type bleeding disorder NCBI curation CN236380 24 Apr 2016 Disease Platelet-type bleeding disorder 11 NCBI curation C3280120 614201 16 Feb 2016 Disease Platelet-type bleeding disorder 13, susceptibility to NCBI curation C3279614 614009 16 Feb 2016 Disease Platelet-type bleeding disorder 15 NCBI curation C3554663 615193 16 Feb 2016 Disease Platelet-type bleeding disorder 16 NCBI curation C1861195 187800 20 May 2016 Disease Platelet-type bleeding disorder 17 NCBI curation C1861194 187900 16 Feb 2016 Disease Platelet-type bleeding disorder 18 NCBI curation C4014584 615888 24 Apr 2016 Disease Platelet-type bleeding disorder 19 NCBI curation C4015405 616176 24 Apr 2016 Disease Platelet-type bleeding disorder 20 NCBI curation C4310797 616913 24 Apr 2016 Disease Platelet-type bleeding disorder 8 NCBI curation C1853278 609821 16 Feb 2016 Disease Platelet-type bleeding disorder 9 NCBI curation C3280114 614200 16 Feb 2016 Disease Platinum compounds response - Efficacy PharmGKB 655386657PA164713176 06 Jul 2018 Pharmacological response Platinum compounds response - Efficacy, Toxicity/ADR PharmGKB CN236513 655386639 18 May 2016 Pharmacological response Platinum compounds response - Toxicity/ADR PharmGKB CN236514 655386661 18 May 2016 Pharmacological response platinum response - Efficacy PharmGKB 655386657PA150595617 06 Jul 2018 Pharmacological response platinum response - Efficacy, Toxicity/ADR PharmGKB CN236574 655386639 18 May 2016 Pharmacological response platinum response - Toxicity/ADR PharmGKB CN236615 655386661 18 May 2016 Pharmacological response Platonychia Human Phenotype Ontology C1853986 HP:0030803 02 Apr 2017 Finding Platybasia Human Phenotype Ontology C0032209 HP:0002691 16 Feb 2016 Finding Platyspondylic dysplasia, Torrance type MONDO C1835437 MONDO:0007895 151210 22 Apr 2020 Disease Platyspondylic lethal skeletal dysplasia, luton type NCBI curation 16 Feb 2016 Disease Platyspondyly Human Phenotype Ontology C1844704 HP:0000926 16 Feb 2016 Finding Platyspondyly (childhood) C1849030 16 Feb 2016 Finding Pleoconial myopathy with salt craving C1849773 262900 16 Feb 2016 Disease Pleomorphic adenoma of salivary gland NCBI curation C1519176 181030 16 Feb 2016 Disease Pleomorphic breast carcinoma MONDO C1514169 MONDO:0006050 17 Apr 2020 Disease Pleomorphic carcinoma MONDO C0334233 MONDO:0003573 17 Apr 2020 Disease Pleomorphic cholangitis Human Phenotype Ontology C4476899 HP:0030990 04 Apr 2018 Finding Pleomorphic lipoma MONDO C0205823 MONDO:0000966 17 Apr 2020 Disease Pleomorphic liposarcoma MONDO C0205825 MONDO:0020562 17 Apr 2020 Disease Pleomorphic malignant fibrous histiocytoma 16 Feb 2016 Disease Pleomorphic rhabdomyosarcoma MONDO C0334480 MONDO:0017386 17 Apr 2020 Disease Pleomorphic xanthoastrocytoma NCBI curation C0334586 31 Mar 2017 Disease Plethora Human Phenotype Ontology C0232370 HP:0001050 16 Feb 2016 Finding Pleural adenomatoid tumor MONDO C0346112 MONDO:0024326 17 Apr 2020 Disease Pleural biphasic mesothelioma MONDO C1709570 MONDO:0006377 17 Apr 2020 Disease Pleural cancer MONDO C0153494 MONDO:0006294 17 Apr 2020 Disease Pleural cyst Human Phenotype Ontology C0039977 HP:0025422 04 Apr 2018 Finding Pleural disease MONDO C0032226 MONDO:0002037 17 Apr 2020 Disease Pleural effusion Human Phenotype Ontology C0032227 HP:0002202 16 Feb 2016 Finding Pleural empyema Human Phenotype Ontology C0014013 HP:0011919 16 Feb 2016 Finding Pleural epithelioid mesothelioma MONDO C1709574 MONDO:0006378 17 Apr 2020 Disease Pleural lipoma MONDO C1335434 MONDO:0000969 17 Apr 2020 Disease Pleural lymphangiectasia Human Phenotype Ontology C1856139 HP:0006531 16 Feb 2016 Finding Pleural mesothelioma Human Phenotype Ontology C0812413 HP:0100002 16 Feb 2016 Finding Pleural neoplasm MONDO C0032229 MONDO:0021065 17 Apr 2020 Disease Pleural sarcomatoid mesothelioma MONDO C1709578 MONDO:0006380 17 Apr 2020 Disease Pleural tuberculosis MONDO C0041326 MONDO:0005922 04 Jun 2020 Infectious disease Pleuritis Human Phenotype Ontology C0032231 HP:0002102 16 Feb 2016 Finding Pleuro-pericardial cyst MONDO CN207317 MONDO:0020456 17 Apr 2020 Disease Pleuropneumonia MONDO C0032241 MONDO:0001940 04 Jun 2020 Infectious disease Pleuropulmonary blastoma Human Phenotype Ontology C1266144 HP:0100528 28 May 2020 Disease Pleuropulmonary blastoma type 1 MONDO C1710501 MONDO:0020555 17 Apr 2020 Disease Pleuropulmonary blastoma type 2 MONDO C1710500 MONDO:0020556 17 Apr 2020 Disease Pleuropulmonary blastoma type 3 MONDO C1710499 MONDO:0020557 17 Apr 2020 Disease Plexiform ameloblastoma MONDO C0457529 MONDO:0006381 17 Apr 2020 Disease Plexiform neurofibroma Human Phenotype Ontology C0206728 HP:0009732 16 Feb 2016 Finding Plexiform schwannoma MONDO C1370659 MONDO:0002559 17 Apr 2020 Disease Plexosarcoma 16 Feb 2016 Disease Plicated tongue NCBI curation 16 Feb 2016 Disease Plum allergy MONDO MONDO:0000786 17 Apr 2020 Disease Plummer disease MONDO C0342127 MONDO:0001252 17 Apr 2020 Disease Plummer-Vinson syndrome MONDO C0032249 MONDO:0018895 22 Apr 2020 Disease Pmp2-related charcot-marie-tooth disease type 1 MONDO C4748940 MONDO:0033135 618279 17 Apr 2020 Disease PMP22-Related Disorders 23 May 2019 Disease Pneumatosis cystoides intestinalis MONDO C0032266 MONDO:0006912 17 Apr 2020 Disease Pneumococcal infection MONDO C0032269 MONDO:0005114 04 Jun 2020 Infectious disease Pneumococcal meningitis MONDO C0025295 MONDO:0006913 04 Jun 2020 Infectious disease Pneumoconiosis C0032273 16 Feb 2016 Disease Pneumoconiosis due to talc MONDO C0238377 MONDO:0001003 17 Apr 2020 Disease Pneumocystic carinii pneumonia 16 Feb 2016 Disease Pneumocystis infectious disease MONDO C0851886 MONDO:0005923 04 Jun 2020 Infectious disease Pneumocystosis C1535939 16 Feb 2016 Infectious disease Pneumomediastinum Human Phenotype Ontology C0025062 HP:0025421 04 Apr 2018 Finding Pneumonia Human Phenotype Ontology C0032285 HP:0002090 16 Feb 2016 Infectious disease Pneumonia caused by chlamydia MONDO C0339959 MONDO:0025598 04 Jun 2020 Infectious disease Pneumonia caused by gram negative bacteria MONDO C0854248 MONDO:0041850 04 Jun 2020 Infectious disease Pneumonia of swine, mycoplasmal MONDO C1258090 MONDO:0025159 04 Jun 2020 Infectious disease Pneumonia, atypical interstitial, of cattle MONDO MONDO:0024973 17 Apr 2020 Disease Pneumonia, progressive interstitial, of sheep MONDO C0032306 MONDO:0025453 17 Apr 2020 Disease Pneumonic pasteurellosis MONDO C0036969 MONDO:0005925 04 Jun 2020 Infectious disease Pneumonic plague MONDO C0524688 MONDO:0001024 04 Jun 2020 Infectious disease Pneumonic tularemia MONDO C0339946 MONDO:0002212 04 Jun 2020 Infectious disease Pneumothorax Human Phenotype Ontology C0032326 HP:0002107 16 Feb 2016 Finding Pneumothorax (disease) MONDO MONDO:0002076 17 Apr 2020 Disease Pneumothorax, primary spontaneous NCBI curation C1868193 173600 16 Feb 2016 Disease PNPLA6-related disorders 23 May 2019 Disease Podagra Human Phenotype Ontology C0221168 HP:0001854 02 Apr 2017 Finding Podder-Tolmie syndrome C2931519 16 Feb 2016 Disease Podoconiosis MONDO MONDO:0005425 17 Apr 2020 Disease Podoconiosis, susceptibility to NCBI curation C3281245 614590 16 Feb 2016 Disease Podocyte foot process effacement Human Phenotype Ontology C3280103 HP:0031266 04 Apr 2018 Finding POEMS syndrome C0085404 16 Feb 2016 Disease Poikilocytosis Human Phenotype Ontology C0221281 HP:0004447 16 Feb 2016 Finding Poikiloderma Human Phenotype Ontology C0392777 HP:0001029 16 Feb 2016 Finding Poikiloderma with neutropenia C1858723 604173 16 Feb 2016 Disease Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis NCBI curation C3810325 615704 16 Feb 2016 Disease Poikilodermatomyositis mental retardation 16 Feb 2016 Disease Poikilodermia alopecia retrognathism cleft palate 16 Feb 2016 Disease Pointed chin Human Phenotype Ontology C1844505 HP:0000307 16 Feb 2016 Finding Pointed frontal hairline Human Phenotype Ontology C4025312 HP:0004544 16 Feb 2016 Finding Pointed hand bones Human Phenotype Ontology C4025369 HP:0004287 16 Feb 2016 Finding Pointed helix Human Phenotype Ontology C4020951 HP:0100810 16 Feb 2016 Finding Pointed humeral metaphysis Human Phenotype Ontology C4025510 HP:0003917 16 Feb 2016 Finding Pointed proximal second through fifth metacarpals Human Phenotype Ontology C1854787 HP:0001223 16 Feb 2016 Finding Pointed ulna Human Phenotype Ontology C4025461 HP:0003990 16 Feb 2016 Finding Pointed ulnar metaphysis Human Phenotype Ontology C4025420 HP:0004044 16 Feb 2016 Finding Pointer syndrome C0796118 16 Feb 2016 Disease POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME OMIM C5231482 618732 618732 17 Jan 2020 Disease Poisoning MONDO C0302332 MONDO:0029000 17 Apr 2020 Disease Pol III-related leukodystrophy NCBI curation CN168056 16 Feb 2016 Disease Poland anomaly C0032357 173800 16 Feb 2016 Disease Polar cataract Human Phenotype Ontology C2025392 HP:0010696 16 Feb 2016 Finding POLE Exonuclease Domain Mutation C4330920 11 Jul 2018 Disease POLG- Related Disorder 11 Oct 2018 Disease POLG- Related Disorders 11 Oct 2018 Disease POLG-related condition 13 Dec 2018 Finding POLG-related disorders NCBI curation CN180166 21 Jan 2020 Disease POLG-Related Spectrum Disorders C4763519 02 Dec 2016 Disease Poliomyelitis CN277397 16 Feb 2016 Infectious disease Poliosis Human Phenotype Ontology C0221262 HP:0002290 16 Feb 2016 Finding Poliovirus infection MONDO C4303135 MONDO:0024618 04 Jun 2020 Infectious disease Pollakisuria Human Phenotype Ontology C0042023 HP:0100515 16 Feb 2016 Finding Pollen allergy MONDO MONDO:0000772 17 Apr 2020 Disease Pollitt's syndrome NCBI curation C1313961 275550 16 Feb 2016 Disease POLR1C-Related Disorders CN239394 02 Dec 2016 Disease POLR3-related leukodystrophy CN234589 16 Feb 2016 Disease Polyagglutinable erythrocyte syndrome C0272137 300622 16 Feb 2016 Disease Polyarteritis nodosa NCBI curation C0031036 10 Apr 2018 Disease Polyarteritis nodosa, childhoood-onset NCBI curation C3887654 615688 26 Dec 2017 Disease polyarthritis 05 Sep 2019 Finding Polyarthritis, systemic 16 Feb 2016 Disease Polyarticular arthritis Human Phenotype Ontology C0162323 HP:0005764 16 Feb 2016 Finding Polyarticular arthropathy Human Phenotype Ontology C4025239 HP:0005195 16 Feb 2016 Finding Polyarticular chondrocalcinosis Human Phenotype Ontology C4025258 HP:0005017 16 Feb 2016 Finding Polyarticular juvenile idiopathic arthritis MONDO C4521004 MONDO:0018456 17 Apr 2020 Disease Polyarticular juvenile rheumatoid arthritis MONDO MONDO:0023249 17 Apr 2020 Disease Polyasplenia NCBI curation 16 Feb 2016 Disease Polycalycosis Human Phenotype Ontology C4476729 HP:0025360 02 Apr 2017 Finding Polyclonal elevation of IgM Human Phenotype Ontology C4025612 HP:0003459 16 Feb 2016 Finding Polyclonal hypergammaglobulinemia MONDO C0154254 MONDO:0002272 17 Apr 2020 Disease Polyclonal hyperviscosity syndrome MONDO CN237743 MONDO:0018678 17 Apr 2020 Disease Polycoria Human Phenotype Ontology C0344544 HP:0011500 16 Feb 2016 Finding Polycystic bone disease C1858143 604771 16 Feb 2016 Disease Polycystic echinococcosis MONDO CN281921 MONDO:0000288 04 Jun 2020 Infectious disease polycystic kidney 26 Oct 2019 Finding Polycystic kidney disease CN262445 15 Mar 2018 Finding Polycystic kidney disease 2 NCBI curation C2751306 613095 16 Feb 2016 Disease Polycystic kidney disease 3 NCBI curation C3887964 600666 24 Aug 2016 Disease POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE 23 Feb 2018 Disease POLYCYSTIC KIDNEY DISEASE 3 WITHOUT POLYCYSTIC LIVER DISEASE 23 Feb 2018 Disease POLYCYSTIC KIDNEY DISEASE 5 OMIM C4539903 617610 617610 09 Aug 2017 Disease POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE OMIM C4748044 618061 618061 29 Jul 2018 Disease Polycystic kidney disease, adult type NCBI curation C3149841 173900 16 Feb 2016 Disease Polycystic kidney disease, autosomal dominant NCBI curation C0085413 16 Feb 2016 Disease Polycystic kidney dysplasia Human Phenotype Ontology C0022680 HP:0000113 16 Feb 2016 Disease Polycystic kidney, cataract, and congenital blindness NCBI curation C1849771 263100 16 Feb 2016 Disease Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL) CN852733 10 Mar 2018 Disease Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 NCBI curation C4721893 221770 26 Jan 2020 Disease POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 OMIM C4748657 618193 618193 18 Nov 2018 Disease Polycystic liver disease OMIM phenotypic series C0158683 PS174050 16 Feb 2016 Disease Polycystic liver disease Human Phenotype Ontology C0158683 HP:0006557 16 Feb 2016 Disease Polycystic liver disease 1 NCBI curation C0887850 174050 13 Jun 2018 Disease Polycystic liver disease 2 NCBI curation C4310769 617004 24 Aug 2016 Disease POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS OMIM C4693472 617874 617874 23 Feb 2018 Disease POLYCYSTIC LIVER DISEASE 4 WITH KIDNEY CYSTS 23 Feb 2018 Disease POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS OMIM C4693479 617875 617875 23 Feb 2018 Disease Polycystic ovarian disease due to 17-ketosteroid reductase deficiency NCBI curation 16 Feb 2016 Disease Polycystic ovaries Human Phenotype Ontology C0032460 HP:0000147 184700 16 Feb 2016 Disease POLYCYSTIC OVARY SYNDROME DUE TO 17-KETOSTEROID REDUCTASE DEFICIENCY CN248509 02 Jun 2018 Disease Polycystic ovary syndrome, susceptibility to NCBI curation 16 Feb 2016 Disease Polycythemia (disease) MONDO C0032461 MONDO:0005571 17 Apr 2020 Disease Polycythemia due to hypoxia MONDO C0856818 MONDO:0005572 17 Apr 2020 Disease Polycythemia neonatorum MONDO C0272153 MONDO:0001238 17 Apr 2020 Disease Polycythemia vera NCBI curation C0032463 263300 16 Feb 2016 Disease polydactylity of fingers 05 Sep 2019 Finding Polydactyly C0152427 603596 16 Feb 2016 Disease Polydactyly affecting the 2nd finger Human Phenotype Ontology C4024152 HP:0009946 16 Feb 2016 Finding Polydactyly affecting the 2nd toe Human Phenotype Ontology C4023901 HP:0010328 16 Feb 2016 Finding Polydactyly affecting the 3rd finger Human Phenotype Ontology C4024144 HP:0009958 16 Feb 2016 Finding Polydactyly affecting the 3rd toe Human Phenotype Ontology C4023898 HP:0010334 16 Feb 2016 Finding Polydactyly affecting the 4th finger Human Phenotype Ontology C4024136 HP:0009971 16 Feb 2016 Finding Polydactyly affecting the 4th toe Human Phenotype Ontology C4023894 HP:0010340 16 Feb 2016 Finding Polydactyly alopecia seborrheic dermatitis 16 Feb 2016 Disease Polydactyly cleft lip palate psychomotor retardation 16 Feb 2016 Disease Polydactyly of a biphalangeal thumb, bilateral MONDO MONDO:0017524 17 Apr 2020 Disease Polydactyly of a biphalangeal thumb, unilateral MONDO MONDO:0017523 17 Apr 2020 Disease Polydactyly of a triphalangeal thumb, bilateral MONDO MONDO:0017526 17 Apr 2020 Disease Polydactyly of a triphalangeal thumb, unilateral MONDO MONDO:0017525 17 Apr 2020 Disease Polydactyly of an index finger, bilateral MONDO MONDO:0017528 17 Apr 2020 Disease Polydactyly of an index finger, unilateral MONDO MONDO:0017527 17 Apr 2020 Disease Polydactyly of the right thumb and index finger 26 Jul 2019 Finding Polydactyly postaxial dental and vertebral 16 Feb 2016 Disease Polydactyly syndrome middle ray duplication 16 Feb 2016 Disease Polydactyly visceral anomalies cleft lip palate 16 Feb 2016 Disease POLYDACTYLY, POSTAXIAL, TYPE A10 OMIM C5193129 618498 618498 11 Jul 2019 Disease POLYDACTYLY, POSTAXIAL, TYPE A7 OMIM C4539976 617642 617642 26 Aug 2017 Disease POLYDACTYLY, POSTAXIAL, TYPE A8 OMIM C4748277 618123 618123 19 Sep 2018 Disease POLYDACTYLY, POSTAXIAL, TYPE A9 OMIM C4748721 618219 618219 08 Dec 2018 Disease Polydactyly, postaxial, with dental and vertebral anomalies NCBI curation C1849732 263540 16 Feb 2016 Disease Polydactyly, preaxial I NCBI curation C1868116 174400 24 Aug 2016 Disease Polydactyly, preaxial II NCBI curation C1868114 174500 24 Aug 2016 Disease Polydactyly, preaxial III NCBI curation C1868113 174600 24 Aug 2016 Disease Polydactyly, preaxial type II CN259067 14 Jun 2019 Disease Polydactyly-myopia syndrome MONDO C1868117 MONDO:0008268 174310 22 Apr 2020 Disease Polydactyly; Syndactyly; Other specified congenital abnormalities 16 Feb 2016 Finding Polydipsia Human Phenotype Ontology C0085602 HP:0001959 16 Feb 2016 Finding Polydysspondyly NCBI curation 16 Feb 2016 Disease Polyembryoma C0334518 16 Feb 2016 Disease Polyembryoma of the ovary MONDO C1514199 MONDO:0003989 17 Apr 2020 Disease Polyendocrine-polyneuropathy syndrome NCBI curation C4015261 616113 16 Feb 2016 Disease Polyendocrinopathy MONDO CN228912 MONDO:0015126 17 Apr 2020 Disease Polyglandular autoimmune syndrome, type 1 NCBI curation C0085859 240300 16 Feb 2016 Disease Polyglandular autoimmune syndrome, type 2 C0085860 269200 16 Feb 2016 Disease Polyglandular deficiency syndrome, persian-jewish type NCBI curation 16 Feb 2016 Disease Polyglucosan body disease, adult C1849722 263570 16 Feb 2016 Disease Polyglucosan body myopathy OMIM phenotypic series CN228160 PS615895 16 Feb 2016 Disease Polyglucosan body myopathy 1 with or without immunodeficiency NCBI curation C4014605 615895 16 Feb 2016 Disease Polyglucosan body myopathy 2 NCBI curation C4015452 616199 16 Feb 2016 Disease Polygonal renal calices Human Phenotype Ontology C4476728 HP:0025359 02 Apr 2017 Finding Polyhydramnios Human Phenotype Ontology C0020224 HP:0001561 16 Feb 2016 Finding Polyhydramnios (disease) MONDO MONDO:0004585 17 Apr 2020 Disease Polyhydramnios in utero CN235281 19 Feb 2016 Finding Polyhydramnios, chronic idiopathic NCBI curation C1849720 263610 16 Feb 2016 Disease Polyhydramnios, megalencephaly, and symptomatic epilepsy NCBI curation C1970203 611087 16 Feb 2016 Disease Polyhydromnios CN238757 19 Oct 2016 Finding Polykaryocytosis inducer NCBI curation C3887935 174750 16 Feb 2016 Disease Polymalformative genetic syndrome with increased risk of developing cancer MONDO CN200541 MONDO:0015945 17 Apr 2020 Disease Polymenorrhea Human Phenotype Ontology C0032519 HP:0400007 16 Feb 2016 Finding Polymerase proofreading-related adenomatous polyposis MONDO MONDO:0018653 17 Apr 2020 Disease Polymicrogyria Human Phenotype Ontology C0266464 HP:0002126 16 Feb 2016 Finding Polymicrogyria turricephaly hypogenitalism 16 Feb 2016 Disease Polymicrogyria with optic nerve hypoplasia NCBI curation C2750798 613180 16 Feb 2016 Disease POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME OMIM C5193040 618343 618343 07 Mar 2019 Disease POLYMICROGYRIA WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME 07 Mar 2019 Disease Polymicrogyria, anterior to posterior gradient Human Phenotype Ontology C1847356 HP:0006821 16 Feb 2016 Finding Polymicrogyria, asymmetric NCBI curation C3552236 610031 16 Feb 2016 Disease Polymicrogyria, bilateral frontoparietal NCBI curation C1847352 606854 16 Feb 2016 Disease Polymicrogyria, bilateral perisylvian, autosomal recessive NCBI curation C3810405 615752 16 Feb 2016 Disease Polymicrogyria, bilateral temporooccipital NCBI curation C4013648 612691 24 Aug 2016 Disease Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis NCBI curation C4225295 616531 16 Feb 2016 Disease Polymicrogyria-turricephaly-hypogenitalism syndrome MONDO MONDO:0017378 17 Apr 2020 Disease Polymicrogyria; Macrocepahly 16 Feb 2016 Finding polyminimyoclonus 20 Jun 2019 Finding Polymorphic and polytopic ventricular extrasystoles Human Phenotype Ontology C4024998 HP:0006696 16 Feb 2016 Finding Polymorphic focal epileptiform discharges Human Phenotype Ontology C4023482 HP:0011192 16 Feb 2016 Finding Polymorphic light eruption MONDO C0031736 MONDO:0041182 17 Apr 2020 Disease Polymorphic light eruption, hereditary NCBI curation 16 Feb 2016 Disease Polymorphic reticulosis 16 Feb 2016 Disease Polymorphic ventricular tachycardia MONDO C0344432 MONDO:0020575 22 Apr 2020 Disease Polymorphous corneal dystrophy NCBI curation C0339284 30 Jun 2016 Disease Polymorphous low-grade adenocarcinoma 16 Feb 2016 Disease Polymyoclonus, infantile NCBI curation C1849731 263550 16 Feb 2016 Disease Polymyositis C0085655 16 Feb 2016 Disease Polyneuritis Human Phenotype Ontology C0032541 HP:0031003 04 Apr 2018 Disease Polyneuropathy Human Phenotype Ontology C0152025 HP:0001271 16 Feb 2016 Finding Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG MONDO C1736154 MONDO:0018977 17 Apr 2020 Disease Polyneuropathy due to drug MONDO C0154762 MONDO:0001904 17 Apr 2020 Disease Polyneuropathy hand defect 16 Feb 2016 Disease Polyneuropathy in collagen vascular disease MONDO C0154759 MONDO:0001765 17 Apr 2020 Disease Polyneuropathy mental retardation acromicria prema 16 Feb 2016 Disease Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract NCBI curation C2675204 612674 16 Feb 2016 Disease Polyneuropathy, inflammatory demyelinating NCBI curation C1832783 16 Feb 2016 Disease Polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive NCBI curation C1858353 604431 16 Feb 2016 Disease Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome MONDO C4749397 MONDO:0017379 17 Apr 2020 Disease Polyomavirus allograft nephropathy 16 Feb 2016 Disease Polyomavirus Infections 16 Feb 2016 Disease Polyomavirus infectious disease MONDO C0949804 MONDO:0005927 04 Jun 2020 Infectious disease Polyosteolysis-hyperostosis syndrome MONDO C1835818 MONDO:0012564 610830 22 Apr 2020 Disease Polyostotic fibrous dysplasia of bone NCBI curation C0016065 16 Feb 2016 Disease Polyostotic fibrous dysplasia, somatic, mosaic NCBI curation C2675383 16 Feb 2016 Disease Polyotia Human Phenotype Ontology C0266611 HP:0100687 16 Feb 2016 Finding Polyp MONDO C0032584 MONDO:0005079 17 Apr 2020 Disease Polyp of colon MONDO MONDO:0021400 17 Apr 2020 Disease Polyp of ethmoidal sinus MONDO C0264248 MONDO:0021418 17 Apr 2020 Disease Polyp of external auditory canal MONDO C0339765 MONDO:0021402 17 Apr 2020 Disease Polyp of frontal sinus MONDO C0339814 MONDO:0021408 17 Apr 2020 Disease Polyp of gallbladder MONDO C0262493 MONDO:0021416 17 Apr 2020 Disease Polyp of maxillary sinus MONDO C0264239 MONDO:0021412 17 Apr 2020 Disease Polyp of middle ear MONDO C0271466 MONDO:0004223 17 Apr 2020 Disease Polyp of sphenoidal sinus MONDO C0264255 MONDO:0021404 17 Apr 2020 Disease Polyp of ureter MONDO C0346269 MONDO:0021390 17 Apr 2020 Disease Polyp of vagina MONDO C0156390 MONDO:0021394 17 Apr 2020 Disease Polyp of vocal cord MONDO C0042929 MONDO:0021420 17 Apr 2020 Disease Polyp of vulva MONDO C0269218 MONDO:0021396 17 Apr 2020 Disease Polyphagia Human Phenotype Ontology C0020505 HP:0002591 16 Feb 2016 Finding Polyploidy MONDO C0032578 MONDO:0019934 17 Apr 2020 Disease Polyposis C0334108 22 Jun 2017 Finding Polyposis of gastric fundus without polyposis coli NCBI curation C1868001 175505 16 Feb 2016 Disease Polyposis, intestinal, scattered and discrete NCBI curation C1868006 175400 16 Feb 2016 Disease Polyposis, intestinal, with multiple exostoses NCBI curation C1868005 175450 16 Feb 2016 Disease Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal NCBI curation C5193005 175510 16 Feb 2016 Disease Polyradiculoneuropathy MONDO C0032587 MONDO:0006915 17 Apr 2020 Disease Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies MONDO CN229036 MONDO:0016171 17 Apr 2020 Disease Polyradiculopathy MONDO C0032586 MONDO:0002960 17 Apr 2020 Disease Polyrrhinia MONDO C4274730 MONDO:0015388 17 Apr 2020 Disease Polysaccharide, storage of unusual NCBI curation C1849721 263600 16 Feb 2016 Disease Polysomy of X chromosome MONDO CN229067 MONDO:0017002 17 Apr 2020 Disease Polysplenia Human Phenotype Ontology C1856659 HP:0001748 16 Feb 2016 Finding Polysplenia syndrome NCBI curation 16 Feb 2016 Disease Polysubstance abuse, susceptibility to NCBI curation C1847831 606581 16 Feb 2016 Disease polysyndactyly C0265553 19 Oct 2016 Finding Polysyndactyly cardiac malformation 16 Feb 2016 Disease Polysyndactyly microcephaly ptosis 16 Feb 2016 Disease Polysyndactyly of hallux Human Phenotype Ontology C4021618 HP:0005873 16 Feb 2016 Finding Polysyndactyly orofacial anomalies 16 Feb 2016 Disease Polysyndactyly trigonocephaly agenesis of corpus callosum 16 Feb 2016 Disease Polysyndactyly type 4 16 Feb 2016 Disease Polysyndactyly type Haas 16 Feb 2016 Disease Polysyndactyly with cardiac malformation NCBI curation C1849719 263630 16 Feb 2016 Disease Polysyndactyly, bilateral MONDO MONDO:0017530 17 Apr 2020 Disease Polysyndactyly, crossed NCBI curation C1867999 175690 16 Feb 2016 Disease Polysyndactyly, unilateral MONDO MONDO:0017529 17 Apr 2020 Disease Polyunsaturated fatty acids plasma level quantitative trait locus 1 NCBI curation C2748551 612795 16 Feb 2016 Disease Polyuria Human Phenotype Ontology C0032617 HP:0000103 16 Feb 2016 Finding Polyvalvular heart disease CN235234 19 Feb 2016 Finding Polyvalvular heart disease syndrome MONDO C4509918 MONDO:0016460 17 Apr 2020 Disease Polyvesicular vitelline pattern testicular yolk sac tumor MONDO C1515311 MONDO:0004219 17 Apr 2020 Disease POMC-Related Disorders 23 May 2019 Disease POMGNT1-Related Disorders CN239299 02 Dec 2016 Disease POMP-related condition 27 Apr 2018 Finding POMT1-Related Disorders 23 May 2019 Disease Poncet-Spiegler's cylindroma 16 Feb 2016 Disease Pontine autosomal dominant microangiopathy with leukoencephalopathy MONDO CN776825 MONDO:0018786 17 Apr 2020 Disease Pontine tegmental cap Human Phenotype Ontology C4476888 HP:0030975 04 Apr 2018 Finding Pontine tegmental cap dysplasia NCBI curation C3541340 614688 16 Feb 2016 Disease Pontocerebellar atrophy Human Phenotype Ontology C1853766 HP:0006879 16 Feb 2016 Finding Pontocerebellar hypoplasia type 1 Orphanet C1843504 ORPHA2254 10 Sep 2018 Disease Pontocerebellar hypoplasia type 1A NCBI curation CN032785 607596 25 May 2017 Disease Pontocerebellar hypoplasia type 2 C2932714 16 Feb 2016 Disease Pontocerebellar hypoplasia type 2A NCBI curation C1848526 277470 16 Feb 2016 Disease Pontocerebellar hypoplasia type 2B NCBI curation C2676466 612389 16 Feb 2016 Disease Pontocerebellar hypoplasia type 2C NCBI curation C2676465 612390 16 Feb 2016 Disease Pontocerebellar hypoplasia type 2D NCBI curation C3151140 613811 16 Feb 2016 Disease Pontocerebellar hypoplasia type 3 C1842687 608027 16 Feb 2016 Disease Pontocerebellar hypoplasia type 4 C1856974 225753 16 Feb 2016 Disease Pontocerebellar hypoplasia type 5 C1857762 610204 16 Feb 2016 Disease Pontocerebellar hypoplasia type 6 C1969084 611523 16 Feb 2016 Disease Pontocerebellar hypoplasia type 8 NCBI curation C3554209 614961 16 Feb 2016 Disease PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL OMIM CN263387 618810 618810 25 Mar 2020 Disease Pontocerebellar hypoplasia, type 10 NCBI curation C4014347 615803 16 Feb 2016 Disease PONTOCEREBELLAR HYPOPLASIA, TYPE 11 OMIM C4540164 617695 617695 01 Oct 2017 Disease PONTOCEREBELLAR HYPOPLASIA, TYPE 12 OMIM C4748873 618266 618266 11 Jan 2019 Disease PONTOCEREBELLAR HYPOPLASIA, TYPE 13 OMIM C5231425 618606 618606 04 Oct 2019 Disease Pontocerebellar hypoplasia, type 1b NCBI curation C3553449 614678 16 Feb 2016 Disease Pontocerebellar hypoplasia, type 1c NCBI curation C4015160 616081 16 Feb 2016 Disease PONTOCEREBELLAR HYPOPLASIA, TYPE 1D OMIM C4748058 618065 618065 29 Jul 2018 Disease Pontocerebellar hypoplasia, type 2e NCBI curation C4014488 615851 16 Feb 2016 Disease Pontocerebellar hypoplasia, type 2f NCBI curation C4310757 617026 24 Aug 2016 Disease Pontocerebellar hypoplasia, type 7 NCBI curation C3554226 614969 16 Feb 2016 Disease Pontocerebellar hypoplasia, type 9 NCBI curation C4014354 615809 21 Oct 2017 Disease Pontoneocerebellar hypoplasia NCBI curation C1261175 16 Feb 2016 Disease Poor appetite Human Phenotype Ontology C0232462 HP:0004396 16 Feb 2016 Finding poor autoregulation 05 Sep 2019 Finding poor balance C0234964 18 Jan 2019 Finding Poor coordination Human Phenotype Ontology C0563243 HP:0002370 16 Feb 2016 Finding poor development of white matter 22 Aug 2019 Finding Poor eye contact Human Phenotype Ontology C1445953 HP:0000817 16 Feb 2016 Finding Poor fine motor coordination Human Phenotype Ontology C1867864 HP:0007010 16 Feb 2016 Finding poor fine motor skills 05 Sep 2019 Finding Poor gross motor coordination Human Phenotype Ontology C0556280 HP:0007015 16 Feb 2016 Finding Poor hand-eye coordination Human Phenotype Ontology C1845864 HP:0007057 16 Feb 2016 Finding Poor head control Human Phenotype Ontology C1836038 HP:0002421 16 Feb 2016 Finding Poor motor coordination Human Phenotype Ontology C1848453 HP:0002275 16 Feb 2016 Finding poor muscle tone 05 Sep 2019 Finding Poor prognosis C0278252 16 Feb 2016 Finding Poor respiratory effort C3808548 19 Feb 2016 Finding Poor specific antibody responses CN228887 16 Feb 2016 Finding Poor speech Human Phenotype Ontology C1848207 HP:0002465 16 Feb 2016 Finding Poor suck Human Phenotype Ontology C1837142 HP:0002033 16 Feb 2016 Finding Poor thiopurine metabolism NCBI curation C2931223 23 Oct 2016 Disease Poor visual behavior for age Human Phenotype Ontology C4476619 HP:0025152 02 Apr 2017 Finding Poor wound healing Human Phenotype Ontology C1851789 HP:0001058 16 Feb 2016 Finding Poorly differentiated thymic neuroendocrine carcinoma MONDO CN202280 MONDO:0016978 17 Apr 2020 Disease Poorly differentiated thyroid gland carcinoma MONDO C1266050 MONDO:0006382 17 Apr 2020 Disease Poorly formed metencephalon Human Phenotype Ontology C4024951 HP:0007027 16 Feb 2016 Finding Poorly ossified cervical vertebrae Human Phenotype Ontology C4024670 HP:0008477 16 Feb 2016 Finding Poorly ossified vertebrae Human Phenotype Ontology C4021953 HP:0100856 16 Feb 2016 Finding Popliteal cyst NCBI curation C0032650 175750 16 Feb 2016 Disease Popliteal pterygium Human Phenotype Ontology C3805420 HP:0009756 16 Feb 2016 Finding Popliteal pterygium syndrome C0265259 119500 16 Feb 2016 Disease Porcine postweaning multisystemic wasting syndrome MONDO C1721016 MONDO:0025506 17 Apr 2020 Disease Porcine reproductive and respiratory syndrome MONDO C0376538 MONDO:0025494 17 Apr 2020 Disease Porcupine man C0432311 146600 16 Feb 2016 Disease Porencephaly 2 NCBI curation C3280970 614483 16 Feb 2016 Disease Porencephaly cerebellar hypoplasia internal malformations 16 Feb 2016 Disease Porencephaly, cerebellar hypoplasia, and internal malformations NCBI curation C1832472 601322 16 Feb 2016 Disease Poretti-Boltshauser syndrome NCBI curation C4014821 615960 06 Apr 2018 Disease porminent midline groove/bifid tongue CN234777 16 Feb 2016 Finding Porokeratosis 3, disseminated superficial actinic type MONDO C1867981 MONDO:0008293 175900 22 Apr 2020 Disease Porokeratosis 5, disseminated superficial actinic type NCBI curation C2676769 612293 24 Aug 2016 Disease Porokeratosis 6, multiple types NCBI curation C2676508 612353 24 Aug 2016 Disease Porokeratosis 7, multiple types NCBI curation C3553549 614714 24 Aug 2016 Disease Porokeratosis 8, disseminated superficial actinic type NCBI curation C4015128 616063 16 Feb 2016 Disease Porokeratosis 9, multiple types NCBI curation C4225262 616631 16 Feb 2016 Disease Porokeratosis of Mantoux C0162838 175850 16 Feb 2016 Disease Porokeratosis of Mibelli C0949506 175800 16 Feb 2016 Disease Porokeratosis, disseminated superficial actinic 2 C1843180 607728 16 Feb 2016 Disease Porokeratotic eccrine ostial and dermal duct nevus MONDO C0473579 MONDO:0015635 17 Apr 2020 Disease Poroma Human Phenotype Ontology C2717981 HP:0031405 04 Apr 2018 Finding Porphobilinogen synthase deficiency NCBI curation C0268328 612740 16 Feb 2016 Disease Porphyria C0032708 16 Feb 2016 Disease Porphyria cutanea tarda C0162566 16 Feb 2016 Disease Porphyria cutanea tarda, susceptibility to NCBI curation 16 Feb 2016 Disease Porphyria cutanea tarda, type I NCBI curation C1867968 176090 26 May 2016 Disease Porphyria variegata, susceptibility to NCBI curation 16 Feb 2016 Disease Porphyria, acute hepatic, digenic NCBI curation C4016013 16 Feb 2016 Disease Porphyria, acute intermittent, nonerythroid variant NCBI curation C1867969 16 Feb 2016 Disease Porphyrin metabolism disease MONDO MONDO:0037821 17 Apr 2020 Disease Porphyrinuria Human Phenotype Ontology C0151861 HP:0010473 16 Feb 2016 Finding Port-wine stain with oculocutaneous melanosis NCBI curation C1274879 24 Dec 2017 Disease Portal fibrosis Human Phenotype Ontology C3805083 HP:0006580 16 Feb 2016 Finding Portal hypertension Human Phenotype Ontology C0020541 HP:0001409 16 Feb 2016 Disease Portal hypertension due to infrahepatic block 16 Feb 2016 Disease portal hypertension secondary to hypoplastic portal venous tree 13 Oct 2017 Finding Portal hypertension, noncirrhotic NCBI curation C4310735 617068 24 Aug 2016 Disease Portal vein thrombosis Human Phenotype Ontology C0155773 HP:0030242 16 Feb 2016 Disease Portal vein, cavernous transformation of NCBI curation C1832917 601004 16 Feb 2016 Disease Portosystemic collateral veins Human Phenotype Ontology C4476620 HP:0025154 02 Apr 2017 Finding Positional foot deformity Human Phenotype Ontology C4025161 HP:0005656 16 Feb 2016 Finding Positive ferric chloride test Human Phenotype Ontology C4025589 HP:0003612 16 Feb 2016 Finding Positive pathergy test Human Phenotype Ontology C4476836 HP:0025532 04 Apr 2018 Finding Positive perchlorate discharge test Human Phenotype Ontology C4476803 HP:0025482 04 Apr 2018 Finding Positive regitine blocking test Human Phenotype Ontology C4025594 HP:0003574 16 Feb 2016 Finding Positive rheumatoid factor polyarthritis 16 Feb 2016 Disease Positive Romberg sign Human Phenotype Ontology C0240914 HP:0002403 16 Feb 2016 Finding positive thumb and wrist signs 05 Sep 2018 Finding Possible dilated ureter at birth CN235498 12 Mar 2016 Finding Possible megacystic-microcolon-intestinal-hypoperistalsis syndrome 24 Nov 2017 Finding possible polymicrogyria 26 Feb 2020 Finding Possible vascular ring 22 Jun 2020 Finding Post poliomyelitis syndrome C0080040 16 Feb 2016 Infectious disease Post-angioplasty coronary artery restenosis Human Phenotype Ontology C2676505 HP:0004761 16 Feb 2016 Finding Post-bacterial disorder MONDO MONDO:0021673 17 Apr 2020 Disease Post-infectious disorder MONDO C1264603 MONDO:0021669 17 Apr 2020 Disease Post-infectious myocarditis 16 Feb 2016 Disease Post-infectious neuralgia MONDO C0032772 MONDO:0021677 17 Apr 2020 Disease Post-infectious reactive arthropathy 16 Feb 2016 Disease Post-infectious syndrome MONDO MONDO:0021670 17 Apr 2020 Disease Post-partum hemorrhage Human Phenotype Ontology C0032797 HP:0011891 16 Feb 2016 Finding Post-Streptococcal Neurologic Disorders 16 Feb 2016 Disease Post-surgical hypoinsulinemia MONDO C0154190 MONDO:0002239 17 Apr 2020 Disease Post-thrombotic syndrome MONDO MONDO:0005928 17 Apr 2020 Disease Post-transfusion thrombocytopenia Human Phenotype Ontology C1868252 HP:0004813 16 Feb 2016 Finding Post-transplant lymphoproliferative disease C0432487 16 Feb 2016 Disease Post-traumatic epilepsy 16 Feb 2016 Disease Post-traumatic stress disorder C0038436 10 Mar 2016 Disease Post-vaccinal encephalitis MONDO C0751101 MONDO:0001773 17 Apr 2020 Disease Post-viral disorder MONDO C1264605 MONDO:0021674 17 Apr 2020 Disease Postanesthetic apnea NCBI curation C1867468 16 Feb 2016 Disease Postauricular lymphadenitis MONDO C0919638 MONDO:0003068 17 Apr 2020 Disease Postauricular pit Human Phenotype Ontology C0395905 HP:0004464 16 Feb 2016 Finding Postauricular skin tag Human Phenotype Ontology C4025323 HP:0004451 16 Feb 2016 Finding Postaxial foot polydactyly Human Phenotype Ontology C2112129 HP:0001830 16 Feb 2016 Finding Postaxial hand polydactyly Human Phenotype Ontology C0431904 HP:0001162 16 Feb 2016 Finding Postaxial oligodactyly Human Phenotype Ontology C1867927 HP:0006210 16 Feb 2016 Finding Postaxial oligodactyly, tetramelic NCBI curation C1867924 176240 16 Feb 2016 Disease Postaxial polydactyly Human Phenotype Ontology C0220697 HP:0100259 22 Jan 2019 Disease Postaxial polydactyly A5 NCBI curation C3550661 263450 16 Feb 2016 Disease Postaxial polydactyly B NCBI curation C1868120 16 Feb 2016 Disease Postaxial polydactyly mental retardation 16 Feb 2016 Disease Postaxial polydactyly of toes MONDO MONDO:0017458 17 Apr 2020 Disease Postaxial polydactyly of toes, bilateral MONDO MONDO:0017540 17 Apr 2020 Disease Postaxial polydactyly of toes, unilateral MONDO MONDO:0017539 17 Apr 2020 Disease Postaxial polydactyly type A Human Phenotype Ontology C3887487 HP:0005696 16 Feb 2016 Finding Postaxial polydactyly type A, bilateral MONDO MONDO:0017532 17 Apr 2020 Disease Postaxial polydactyly type A, unilateral MONDO MONDO:0017531 17 Apr 2020 Disease Postaxial polydactyly type A1 NCBI curation C4282400 174200 29 Aug 2019 Disease Postaxial polydactyly type A2 NCBI curation C1865883 602085 16 Feb 2016 Disease Postaxial polydactyly type A3 NCBI curation C1846452 607324 16 Feb 2016 Disease Postaxial polydactyly type A4 NCBI curation C1837868 608562 16 Feb 2016 Disease Postaxial polydactyly type A6 NCBI curation C3808889 615226 16 Feb 2016 Disease Postaxial polydactyly type B, bilateral MONDO MONDO:0017534 17 Apr 2020 Disease Postaxial polydactyly type B, unilateral MONDO MONDO:0017533 17 Apr 2020 Disease Postaxial polydactyly, type A1/B NCBI curation C4016298 09 Mar 2019 Disease Postaxial polysyndactyly of foot Human Phenotype Ontology C4021824 HP:0005817 16 Feb 2016 Finding Postcholecystectomy syndrome MONDO C0152099 MONDO:0006916 17 Apr 2020 Disease Postcricoid region cancer MONDO C0496769 MONDO:0004635 17 Apr 2020 Disease Postductal coarctation of the aorta Human Phenotype Ontology C0265879 HP:0011647 16 Feb 2016 Finding Postencephalitic Parkinson disease MONDO C0030568 MONDO:0001945 04 Jun 2020 Infectious disease Posterior capsular cataract Human Phenotype Ontology C4022388 HP:0100020 16 Feb 2016 Finding Posterior cerebral artery infarction MONDO C0752132 MONDO:0006917 17 Apr 2020 Disease Posterior cerebral artery stenosis Human Phenotype Ontology C1504569 HP:0012495 16 Feb 2016 Finding Posterior choanal atresia Human Phenotype Ontology C0220723 HP:0004496 608911 04 Apr 2018 Disease Posterior column ataxia C1867923 176250 16 Feb 2016 Disease Posterior column ataxia-retinitis pigmentosa syndrome MONDO C1836916 MONDO:0012177 609033 17 Apr 2020 Disease Posterior corneal dystrophy MONDO C2063478 MONDO:0020214 17 Apr 2020 Disease Posterior corneal pigmentation MONDO C0155106 MONDO:0001717 17 Apr 2020 Disease Posterior cortical atrophy MONDO C4275079 MONDO:0018899 17 Apr 2020 Disease Posterior cortical cataract Human Phenotype Ontology C4023650 HP:0010924 16 Feb 2016 Finding Posterior cranial fossa meningioma MONDO C1335448 MONDO:0002919 17 Apr 2020 Disease Posterior dislocation of lens MONDO C0155373 MONDO:0001906 17 Apr 2020 Disease Posterior embryotoxon Human Phenotype Ontology C0546967 HP:0000627 16 Feb 2016 Finding Posterior foramen magnum meningioma MONDO C1335449 MONDO:0003921 17 Apr 2020 Disease Posterior fossa crowding with cervical syrinx CN235294 20 Feb 2016 Finding Posterior fossa cyst Human Phenotype Ontology C1857353 HP:0007291 16 Feb 2016 Finding Posterior fossa cyst at the fourth ventricle Human Phenotype Ontology C4025816 HP:0000933 16 Feb 2016 Finding Posterior fossa malformation MONDO CN227792 MONDO:0020133 17 Apr 2020 Disease Posterior fusion of lumbosacral vertebrae Human Phenotype Ontology C4025169 HP:0005626 16 Feb 2016 Finding Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome MONDO C1860464 MONDO:0008650 192800 17 Apr 2020 Disease Posterior helix pit Human Phenotype Ontology C4021539 HP:0008523 16 Feb 2016 Finding Posterior hypospadias MONDO C5231010 MONDO:0019848 17 Apr 2020 Disease Posterior lenticonus Human Phenotype Ontology C0344263 HP:0011502 16 Feb 2016 Finding Posterior leukoencephalopathy Human Phenotype Ontology C4024975 HP:0006859 16 Feb 2016 Finding Posterior leukoencephalopathy syndrome MONDO C0878576 MONDO:0044033 17 Apr 2020 Disease Posterior mediastinum cancer MONDO C0153502 MONDO:0002972 17 Apr 2020 Disease Posterior meningocele MONDO CN202439 MONDO:0017076 17 Apr 2020 Disease Posterior myocardial infarction MONDO C0264706 MONDO:0003672 17 Apr 2020 Disease Posterior pharyngeal cleft Human Phenotype Ontology C1848389 HP:0006783 16 Feb 2016 Finding Posterior pituitary agenesis Human Phenotype Ontology C4023203 HP:0011756 16 Feb 2016 Finding Posterior pituitary dysgenesis Human Phenotype Ontology C4021123 HP:0011753 16 Feb 2016 Finding Posterior pituitary hypoplasia Human Phenotype Ontology C4023202 HP:0011757 16 Feb 2016 Finding Posterior plagiocephaly Human Phenotype Ontology C4021160 HP:0011327 16 Feb 2016 Finding Posterior polar cataract Human Phenotype Ontology C1850191 HP:0001115 16 Feb 2016 Finding Posterior Polymorphous Corneal Dystrophy CN239252 02 Dec 2016 Disease Posterior polymorphous corneal dystrophy 1 NCBI curation C1852555 122000 30 Jun 2016 Disease Posterior polymorphous corneal dystrophy 3 NCBI curation C1836724 609141 30 Jun 2016 Disease Posterior putamen signal changes 20 Jun 2019 Finding Posterior retinal neovascularization Human Phenotype Ontology C4024803 HP:0007778 02 Apr 2017 Finding Posterior rib cupping Human Phenotype Ontology C1837483 HP:0000922 16 Feb 2016 Finding Posterior rib fusion Human Phenotype Ontology C1842084 HP:0000913 16 Feb 2016 Finding Posterior rib gap Human Phenotype Ontology C1842696 HP:0030282 16 Feb 2016 Finding Posterior scalloping of vertebral bodies Human Phenotype Ontology C1850196 HP:0005121 16 Feb 2016 Finding Posterior scleritis MONDO C0155357 MONDO:0001774 17 Apr 2020 Disease Posterior staphyloma Human Phenotype Ontology CN241574 HP:0030856 02 Apr 2017 Finding Posterior subcapsular cataract Human Phenotype Ontology C0858617 HP:0007787 16 Feb 2016 Finding Posterior subluxation of radial head Human Phenotype Ontology C3149878 HP:0005739 16 Feb 2016 Finding Posterior synechiae of the anterior chamber Human Phenotype Ontology C0152253 HP:0011484 16 Feb 2016 Finding Posterior tibial tendon rupture 16 Feb 2016 Disease Posterior urethra cancer MONDO C0279931 MONDO:0004240 17 Apr 2020 Disease Posterior urethral valves 16 Feb 2016 Disease Posterior uveal melanoma MONDO MONDO:0003927 17 Apr 2020 Disease Posterior uveitis Human Phenotype Ontology C0042167 HP:0012123 16 Feb 2016 Finding Posterior valve urethra 16 Feb 2016 Disease Posterior vertebral hypoplasia Human Phenotype Ontology C1856780 HP:0008451 16 Feb 2016 Finding Posterior vitreous detachment Human Phenotype Ontology C0423361 HP:0001489 02 Apr 2017 Finding Posterior wedging of vertebral bodies Human Phenotype Ontology C1969679 HP:0008444 16 Feb 2016 Finding Posterior Y-sutural cataract Human Phenotype Ontology C4021560 HP:0008031 16 Feb 2016 Finding Posteriorly dislocated ulna Human Phenotype Ontology C4025465 HP:0003984 16 Feb 2016 Finding Posteriorly placed anus Human Phenotype Ontology C4022693 HP:0012890 16 Feb 2016 Finding Posteriorly placed tongue Human Phenotype Ontology C4024600 HP:0009087 16 Feb 2016 Finding Posteriorly rotated ears Human Phenotype Ontology C0431478 HP:0000358 16 Feb 2016 Finding posteriorly rotated ears-right 05 Sep 2019 Finding Posteroinferior myocardial infarction MONDO MONDO:0003670 17 Apr 2020 Disease Posterolateral diaphragmatic hernia Human Phenotype Ontology C0265700 HP:0025193 02 Apr 2017 Finding Posterolateral myocardial infarction MONDO MONDO:0003675 17 Apr 2020 Disease Postexertional malaise Human Phenotype Ontology C2732413 HP:0030973 04 Apr 2018 Finding Postgastrectomy syndrome MONDO C0032763 MONDO:0004566 17 Apr 2020 Disease Posthitis MONDO C0235640 MONDO:0021164 17 Apr 2020 Disease Postinfectious autoimmune disease with chorea MONDO CN203539 MONDO:0017647 17 Apr 2020 Disease Postinfectious encephalitis MONDO C0393459 MONDO:0020068 04 Jun 2020 Infectious disease Postinfectious vasculitis MONDO C4510302 MONDO:0018837 17 Apr 2020 Disease Postinflammatory pulmonary fibrosis MONDO C0175999 MONDO:0001438 17 Apr 2020 Disease Postlingual non-syndromic genetic deafness MONDO C4706678 MONDO:0016298 17 Apr 2020 Disease Postlingual sensorineural hearing impairment Human Phenotype Ontology C4024654 HP:0008596 16 Feb 2016 Finding Postmenopausal atrophic vaginitis MONDO MONDO:0001410 17 Apr 2020 Disease Postmenopausal osteoporosis NCBI curation C0029458 166710 06 Jul 2018 Disease Postnatal asphyxia C0004045 20 Feb 2016 Finding postnatal cataracts CN232327 16 Feb 2016 Finding Postnatal cystic hygroma Human Phenotype Ontology C4023677 HP:0010879 16 Feb 2016 Finding Postnatal growth restriction CN236433 13 May 2016 Finding Postnatal growth retardation Human Phenotype Ontology C1859778 HP:0008897 16 Feb 2016 Finding Postnatal macrocephaly Human Phenotype Ontology C1854417 HP:0005490 16 Feb 2016 Finding Postnatal microcephaly Human Phenotype Ontology C0431352 HP:0005484 16 Feb 2016 Finding Postnatal onset growth deficiency C1857534 20 Feb 2016 Finding postnatal overgrowth with macrocephaly 22 Aug 2019 Finding Postnatal short stature C1835465 24 Feb 2017 Finding Postnatal short stature and microcephaly CN240684 24 Feb 2017 Finding Postnatal-onset ichthyosiform erythroderma Human Phenotype Ontology C4021576 HP:0007395 16 Feb 2016 Finding Postoperative ventricular dysfunction MONDO MONDO:0005436 17 Apr 2020 Disease Postorgasmic illness syndrome MONDO C4749582 MONDO:0017213 17 Apr 2020 Disease Postpartum amenorrhea-galactorrhea syndrome MONDO C0008043 MONDO:0043226 17 Apr 2020 Disease Postpartum depression MONDO C0221074 MONDO:0005929 17 Apr 2020 Disease Postpartum psychosis MONDO C0520678 MONDO:0018623 17 Apr 2020 Disease Postpartum thyroiditis MONDO C0271815 MONDO:0044014 17 Apr 2020 Disease Postprandial hyperglycemia Human Phenotype Ontology C1855520 HP:0011998 16 Feb 2016 Finding Postprandial hyperlactemia Human Phenotype Ontology C4023089 HP:0011997 16 Feb 2016 Finding Postprandial hypotension MONDO MONDO:0005470 17 Apr 2020 Disease Postsurgical hypothyroidism MONDO C0154157 MONDO:0002002 17 Apr 2020 Disease Postsynaptic congenital myasthenic syndrome MONDO C0751883 MONDO:0020344 17 Apr 2020 Disease Postterm pregnancy Human Phenotype Ontology C4477016 HP:0031169 04 Apr 2018 Finding Posttransfusion purpura C0398648 24 Aug 2016 Disease Postural hypotension with compensatory tachycardia Human Phenotype Ontology C1850438 HP:0005307 16 Feb 2016 Finding Postural instability Human Phenotype Ontology C1843921 HP:0002172 16 Feb 2016 Finding Postural orthostatic tachycardia syndrome 16 Feb 2016 Disease Postural tremor Human Phenotype Ontology C0234378 HP:0002174 16 Feb 2016 Finding Postweaning multisystemic wasting syndrome MONDO MONDO:0006051 17 Apr 2020 Disease Potassium aggravated myotonia C2931826 608390 16 Feb 2016 Disease Potassium deficiency MONDO C0032827 MONDO:0006919 17 Apr 2020 Disease Potassium deficiency disease MONDO C1514284 MONDO:0003019 17 Apr 2020 Disease Potocki-Lupski syndrome MONDO C2931246 MONDO:0012574 610883 17 Apr 2020 Disease Potocki-Shaffer syndrome C1832588 601224 16 Feb 2016 Disease Potter facies Human Phenotype Ontology C0266619 HP:0002009 16 Feb 2016 Finding Potter sequence MONDO C0178426 MONDO:0001558 27 May 2020 Disease Potter syndrome type 1 16 Feb 2016 Disease Potter syndrome type 2 16 Feb 2016 Disease Potter syndrome type 3 16 Feb 2016 Disease Potter syndrome type 4 16 Feb 2016 Disease Potter type III polycystic kidney disease NCBI curation 20 Jun 2017 Disease Pouchitis MONDO C0376620 MONDO:0005312 17 Apr 2020 Disease Poult enteritis mortality syndrome MONDO C1135821 MONDO:0025293 17 Apr 2020 Disease Poultry disease MONDO C0032851 MONDO:0025113 17 Apr 2020 Disease Powassan encephalitis MONDO C0032858 MONDO:0000276 04 Jun 2020 Infectious disease Powell Buist Stenzel syndrome 16 Feb 2016 Disease PPKP1B OMIM C3554145 614936 614936 17 Apr 2020 Disease PPKP1B MONDO C3554145 MONDO:0013980 614936 17 Apr 2020 Disease PPoma MONDO C0346407 MONDO:0019957 17 Apr 2020 Disease PPP1R21-related neurodevelopmental disorder 01 May 2020 Finding PPP2R1A-related disorder 29 Aug 2019 Disease PR interval NCBI curation C3152251 108980 16 Feb 2016 Disease PR segment depression Human Phenotype Ontology C4553254 HP:0031594 04 Apr 2018 Finding PR segment elevation Human Phenotype Ontology C2121436 HP:0031597 04 Apr 2018 Finding Prader-Willi syndrome NCBI curation C0032897 176270 16 Feb 2016 Disease Prader-Willi syndrome due to imprinting mutation MONDO CN200368 MONDO:0015786 17 Apr 2020 Disease Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 MONDO CN207093 MONDO:0020298 17 Apr 2020 Disease Prader-Willi syndrome due to paternal 15q11q13 deletion MONDO CN207115 MONDO:0020301 17 Apr 2020 Disease Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 MONDO CN200365 MONDO:0015783 17 Apr 2020 Disease Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 MONDO CN200366 MONDO:0015784 17 Apr 2020 Disease Prader-Willi syndrome due to translocation MONDO CN200367 MONDO:0015785 17 Apr 2020 Disease Prader-Willi-like syndrome MONDO CN280971 MONDO:0018354 30 May 2020 Disease Prader-Willi-like syndrome associated with chromosome 6 NCBI curation C1867859 16 Feb 2016 Disease Prader-Willi-like syndrome due to point mutation MONDO CN226095 MONDO:0018355 17 Apr 2020 Disease Prasugrel response NCBI curation CN239061 16 Nov 2016 Pharmacological response Prata-Liberal-Goncalves syndrome MONDO C2931761 MONDO:0017568 07 Jun 2020 Disease pravastatin response - Efficacy PharmGKB CN236575 1183491425 18 May 2016 Pharmacological response pravastatin response - Metabolism/PK PharmGKB CN236605 981345293 18 May 2016 Pharmacological response PRB3M(NULL) 16 Feb 2016 Disease PRB3S(CYS) 16 Feb 2016 Disease Pre- and postnatal growth restriction CN236428 13 May 2016 Finding Pre-B-cell acute lymphoblastic leukemia Human Phenotype Ontology C0349636 HP:0004812 16 Feb 2016 Disease Pre-descemet corneal dystrophy MONDO C0339282 MONDO:0017392 17 Apr 2020 Disease Pre-malignant neoplasm MONDO MONDO:0000611 17 Apr 2020 Disease Preauricular cyst Human Phenotype Ontology C0158599 HP:0040297 04 Apr 2018 Finding Preauricular fistula NCBI curation C0546969 128700 16 Feb 2016 Disease Preauricular pit Human Phenotype Ontology C0266610 HP:0004467 16 Feb 2016 Finding Preauricular skin furrow Human Phenotype Ontology C1852411 HP:0004450 16 Feb 2016 Finding Preauricular skin tag Human Phenotype Ontology C1860816 HP:0000384 16 Feb 2016 Finding Preauricular tag, isolated, autosomal dominant, 1 NCBI curation C1968893 610420 16 Feb 2016 Disease Preaxial foot polydactyly Human Phenotype Ontology C2112942 HP:0001841 16 Feb 2016 Finding Preaxial hallucal polydactyly NCBI curation C1866339 601759 16 Feb 2016 Disease Preaxial hand polydactyly Human Phenotype Ontology C1395852 HP:0001177 16 Feb 2016 Finding Preaxial polydactyly Human Phenotype Ontology C0345354 HP:0100258 16 Feb 2016 Finding Preaxial polydactyly 4 NCBI curation C1868111 174700 16 Feb 2016 Disease Preaxial polydactyly of toes MONDO MONDO:0017457 17 Apr 2020 Disease Preaxial polydactyly of toes, bilateral MONDO MONDO:0017538 17 Apr 2020 Disease Preaxial polydactyly of toes, unilateral MONDO MONDO:0017537 17 Apr 2020 Disease Preaxial polydactyly-colobomata-intellectual disability syndrome MONDO C2931655 MONDO:0017377 17 Apr 2020 Disease Precancerous condition MONDO C0032927 MONDO:0021074 17 Apr 2020 Disease Precancerous lesion of palpebral epidermis MONDO MONDO:0020174 17 Apr 2020 Disease Precious child affected with dilated cardiomyopathy-2A 30 Jun 2018 Finding Precocious atherosclerosis Human Phenotype Ontology C4021654 HP:0004416 16 Feb 2016 Finding Precocious costochondral ossification Human Phenotype Ontology C1849049 HP:0006607 16 Feb 2016 Finding Precocious epileptic encephalopathy 16 Feb 2016 Disease Precocious myoclonic encephalopathy 16 Feb 2016 Disease Precocious puberty Human Phenotype Ontology C0034013 HP:0000826 16 Feb 2016 Finding Precocious puberty in females Human Phenotype Ontology C0271616 HP:0010465 16 Feb 2016 Finding Precocious puberty in males Human Phenotype Ontology C1859979 HP:0008185 16 Feb 2016 Finding Precocious puberty with Sertoli cell tumor Human Phenotype Ontology C1868007 HP:0008204 16 Feb 2016 Finding Precocious puberty, central, 1 NCBI curation C3805879 176400 19 Jan 2020 Disease Precocious puberty, central, 2 NCBI curation C3809199 615346 16 Feb 2016 Disease Precursor Cell Lymphoblastic Leukemia-Lymphoma PharmGKB C1961102 18 May 2016 Disease Precursor lymphoblastic lymphoma/leukemia MONDO C1335469 MONDO:0003538 17 Apr 2020 Disease Prediabetes syndrome MONDO C0362046 MONDO:0006920 17 Apr 2020 Disease Predictive testing due to different familial cancers (breast, digestive organ) 29 Jun 2018 Finding Predictive testing due to different familial cancers (breast, genital, digestive organ) CN241985 15 Apr 2017 Finding Predisposition to dissection 02 Aug 2019 Finding Prednisolone response CN236771 16 Jun 2016 Pharmacological response prednisolone response - Toxicity/ADR PharmGKB 1448632697PA451096 06 Jul 2018 Pharmacological response Predominantly dermal neutrophilic infiltrate Human Phenotype Ontology C4531256 HP:0031236 04 Apr 2018 Finding Predominantly epidermal neutrophilic infiltrate Human Phenotype Ontology C4531257 HP:0031235 04 Apr 2018 Finding predominantly hyperactive-impulsive type 05 Sep 2019 Finding Predominantly large-vessel vasculitis MONDO CN228952 MONDO:0015488 17 Apr 2020 Disease Predominantly lower limb lymphedema Human Phenotype Ontology C1835228 HP:0003550 16 Feb 2016 Finding Predominantly medium-vessel vasculitis MONDO CN228953 MONDO:0015489 17 Apr 2020 Disease Predominantly small-vessel vasculitis MONDO CN228954 MONDO:0015490 17 Apr 2020 Disease Preductal coarctation of the aorta Human Phenotype Ontology C0265878 HP:0005151 16 Feb 2016 Finding Preeclampsia Human Phenotype Ontology C0032914 HP:0100602 04 Apr 2018 Disease Preeclampsia, susceptibility to NCBI curation 16 Feb 2016 Disease Preeclampsia/eclampsia 1 NCBI curation CN263178 189800 20 Jan 2020 Disease Preeclampsia/eclampsia 2 NCBI curation C1836257 609402 16 Feb 2016 Disease Preeclampsia/eclampsia 3 NCBI curation C1836256 609403 16 Feb 2016 Disease Preeclampsia/eclampsia 4 NCBI curation C1836255 609404 16 Feb 2016 Disease Preeclampsia/eclampsia 5 NCBI curation C3281288 614595 16 Feb 2016 Disease Preexcitation syndrome NCBI curation 16 Feb 2016 Disease Preeyasombat-Varavithya syndrome MONDO C2930859 MONDO:0060781 22 Apr 2020 Disease Prefrontal hypometabolism in FDG PET Human Phenotype Ontology C4022797 HP:0012659 16 Feb 2016 Finding Pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma MONDO C1333038 MONDO:0004478 17 Apr 2020 Disease Pregnancy NCBI curation C0032961 16 Feb 2016 Disease Pregnancy adenoma MONDO C1266023 MONDO:0004271 17 Apr 2020 Disease Pregnancy disorder MONDO MONDO:0024575 17 Apr 2020 Disease Pregnancy disorder with abortive outcome MONDO MONDO:0041526 17 Apr 2020 Disease Pregnancy exposure Human Phenotype Ontology C3544104 HP:0031437 04 Apr 2018 Finding Pregnancy loss, recurrent, susceptibility MONDO MONDO:0000144 17 Apr 2020 Disease Pregnancy loss, recurrent, susceptibility to, 2 NCBI curation C3280672 614390 16 Feb 2016 Disease Pregnancy loss, recurrent, susceptibility to, 3 NCBI curation C3280674 614391 16 Feb 2016 Disease Pregnancy, cornual MONDO MONDO:0044101 17 Apr 2020 Disease Preimplantation embryonic lethality OMIM phenotypic series CN282827 PS616814 01 Jul 2017 Disease Preimplantation embryonic lethality 1 NCBI curation C4225197 616814 20 Jun 2017 Disease Preimplantation embryonic lethality 2 NCBI curation C4310659 617234 20 Jun 2017 Disease Prekallikrein deficiency C0272339 612423 16 Feb 2016 Disease Prekallikrein deficiency, congenital 16 Feb 2016 Disease Prelingual non-syndromic genetic deafness MONDO C4706679 MONDO:0016297 17 Apr 2020 Disease prelingual nonsyndromic hearing loss CN860312 13 Mar 2018 Disease Prelingual sensorineural hearing impairment Human Phenotype Ontology C4021806 HP:0000399 16 Feb 2016 Finding PRELP-related osteosclerosis 05 Oct 2018 Finding Premalignant hematological system disease MONDO C1335471 MONDO:0060782 17 Apr 2020 Disease Premature adrenarche Human Phenotype Ontology C0342546 HP:0012412 16 Feb 2016 Finding Premature aging NCBI curation C0231341 16 Feb 2016 Disease Premature aging syndrome, Okamoto type MONDO C1866183 MONDO:0011149 601811 22 Apr 2020 Disease Premature aging syndrome, Penttinen type NCBI curation C1866182 601812 26 Feb 2018 Disease Premature anterior fontanel closure Human Phenotype Ontology C4024668 HP:0008491 16 Feb 2016 Finding Premature arteriosclerosis Human Phenotype Ontology C1848486 HP:0005177 16 Feb 2016 Finding Premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, an 16 Feb 2016 Disease Premature atrial contractions Human Phenotype Ontology C0033036 HP:0006699 02 Apr 2017 Finding Premature birth Human Phenotype Ontology C0151526 HP:0001622 16 Feb 2016 Finding Premature birth following premature rupture of fetal membranes Human Phenotype Ontology C1851833 HP:0005100 16 Feb 2016 Finding Premature centromere division NCBI curation C1859308 212790 16 Feb 2016 Disease Premature chromatid separation Human Phenotype Ontology C4021899 HP:0200024 16 Feb 2016 Finding Premature chromatid separation trait NCBI curation C1864389 176430 16 Feb 2016 Disease Premature closure of fontanelles Human Phenotype Ontology C0277827 HP:0005458 16 Feb 2016 Finding Premature closure of the arterial duct MONDO CN227700 MONDO:0019823 17 Apr 2020 Disease Premature coronary artery disease Human Phenotype Ontology C1867743 HP:0005181 16 Feb 2016 Finding Premature delivery because of cervical insufficiency or membrane fragility Human Phenotype Ontology C1851808 HP:0005267 16 Feb 2016 Finding Premature ejaculation Human Phenotype Ontology C0033038 HP:0012876 16 Feb 2016 Finding Premature ejaculation (disease) MONDO MONDO:0001780 17 Apr 2020 Disease Premature epimetaphyseal fusion Human Phenotype Ontology C0151628 HP:0010588 16 Feb 2016 Finding Premature epimetaphyseal fusion in fibula Human Phenotype Ontology C4021838 HP:0012565 16 Feb 2016 Finding Premature epimetaphyseal fusion in foot Human Phenotype Ontology C4022843 HP:0012563 16 Feb 2016 Finding Premature epimetaphyseal fusion in hand Human Phenotype Ontology C4022844 HP:0012562 16 Feb 2016 Finding Premature epimetaphyseal fusion in radius Human Phenotype Ontology C4022841 HP:0012566 16 Feb 2016 Finding Premature epimetaphyseal fusion in tibia Human Phenotype Ontology C4022842 HP:0012564 16 Feb 2016 Finding Premature epimetaphyseal fusion in ulna Human Phenotype Ontology C4022840 HP:0012567 16 Feb 2016 Finding Premature eruption of permanent teeth Human Phenotype Ontology C4021601 HP:0006337 16 Feb 2016 Finding Premature fusion of phalangeal epiphyses Human Phenotype Ontology C1855620 HP:0006140 16 Feb 2016 Finding Premature fusion of the radial epiphyseal plates Human Phenotype Ontology C4025446 HP:0004012 16 Feb 2016 Finding Premature graying of body hair Human Phenotype Ontology C1849125 HP:0004771 16 Feb 2016 Finding Premature graying of hair Human Phenotype Ontology C0263498 HP:0002216 16 Feb 2016 Finding Premature loss of permanent teeth Human Phenotype Ontology C1969738 HP:0006357 16 Feb 2016 Finding Premature loss of primary teeth Human Phenotype Ontology C0266052 HP:0006323 16 Feb 2016 Finding Premature loss of teeth Human Phenotype Ontology C0232513 HP:0006480 16 Feb 2016 Finding Premature occlusive vascular stenosis Human Phenotype Ontology C4531299 HP:0005297 04 Apr 2018 Finding Premature osteoarthritis Human Phenotype Ontology C1835121 HP:0003088 16 Feb 2016 Finding Premature ovarian failure OMIM phenotypic series C0085215 PS311360 16 Feb 2016 Disease Premature ovarian failure 1 NCBI curation C4552079 311360 16 Feb 2016 Disease Premature ovarian failure 10 NCBI curation C4225402 612885 24 Aug 2016 Disease Premature ovarian failure 11 NCBI curation C4310783 616946 23 Apr 2018 Disease Premature ovarian failure 12 NCBI curation C4310782 616947 01 Jun 2016 Disease Premature ovarian failure 13 NCBI curation C4479510 617442 20 Jun 2017 Disease PREMATURE OVARIAN FAILURE 14 OMIM C4693941 618014 618014 14 Jun 2018 Disease PREMATURE OVARIAN FAILURE 15 OMIM C4748170 618096 618096 30 Aug 2018 Disease PREMATURE OVARIAN FAILURE 16 OMIM C5231474 618723 618723 29 Dec 2019 Disease Premature ovarian failure 2a NCBI curation C1845293 300511 16 Feb 2016 Disease Premature ovarian failure 2b NCBI curation C1845105 300604 16 Feb 2016 Disease Premature ovarian failure 3 NCBI curation C1837008 608996 16 Feb 2016 Disease Premature ovarian failure 4 NCBI curation C1845295 16 Feb 2016 Disease Premature ovarian failure 5 NCBI curation C1969060 611548 16 Feb 2016 Disease Premature ovarian failure 6 NCBI curation C2676742 612310 16 Feb 2016 Disease Premature ovarian failure 7 NCBI curation C2751825 612964 16 Feb 2016 Disease Premature ovarian failure 8 NCBI curation C3810367 615723 16 Feb 2016 Disease Premature ovarian failure 9 NCBI curation C3810376 615724 16 Feb 2016 Disease Premature ovarian failure, familial C2930861 16 Feb 2016 Disease Premature ovarian insufficiency Human Phenotype Ontology C0025322 HP:0008209 04 Apr 2018 Finding Premature ovaric failure 30 Nov 2018 Finding Premature posterior fontanelle closure Human Phenotype Ontology C1839126 HP:0005494 16 Feb 2016 Finding Premature pubarche Human Phenotype Ontology C0342541 HP:0012411 16 Feb 2016 Finding Premature rupture of membranes Human Phenotype Ontology C0015944 HP:0001788 16 Feb 2016 Finding Premature separation of centromeric heterochromatin Human Phenotype Ontology C1849316 HP:0003616 16 Feb 2016 Finding Premature skin wrinkling Human Phenotype Ontology C0037301 HP:0100678 16 Feb 2016 Finding Premature sternal synostosis Human Phenotype Ontology C4021590 HP:0006590 16 Feb 2016 Finding Premature thelarche Human Phenotype Ontology C0425772 HP:0010314 16 Feb 2016 Finding Premature ventricular contraction 10 Oct 2019 Disease Prematurely aged appearance Human Phenotype Ontology C1857656 HP:0007495 16 Feb 2016 Finding prematurity 05 Sep 2019 Finding Premenstrual dysphoric disorder C0520676 03 Jun 2020 Disease Premenstrual tension MONDO C0376356 MONDO:0004169 17 Apr 2020 Disease Prenatal anemia 18 Jul 2019 Disease Prenatal benign hypophosphatasia MONDO CN201801 MONDO:0016606 17 Apr 2020 Disease Prenatal bowing NCBI curation C1849701 264050 16 Feb 2016 Disease Prenatal cortical hyperostosis, lethal NCBI curation C1861980 16 Feb 2016 Disease Prenatal maternal abnormality Human Phenotype Ontology C4025690 HP:0002686 16 Feb 2016 Finding Prenatal movement abnormality Human Phenotype Ontology C1849510 HP:0001557 16 Feb 2016 Finding Prenatal onset hypertrophic cardiomyopathy CN235517 15 Mar 2016 Finding Prepapillary vascular loop NCBI curation C1828066 264060 16 Feb 2016 Disease Prepubertal anorexia nervosa MONDO CN258577 MONDO:0033926 17 Apr 2020 Disease Prepuce cancer MONDO C0153598 MONDO:0001653 17 Apr 2020 Disease Preretinal fibrosis MONDO MONDO:0002174 17 Apr 2020 Disease Preretinal hemorrhage Human Phenotype Ontology C4316879 HP:0025240 02 Apr 2017 Finding Presacral ganglioneuroma Human Phenotype Ontology C4531105 HP:0031455 04 Apr 2018 Finding Presacral teratoma Human Phenotype Ontology C4551654 HP:0009793 16 Feb 2016 Finding Presbycusis 16 Feb 2016 Disease Presbyopia MONDO C0033075 MONDO:0001330 17 Apr 2020 Disease Presence of stomatocytes on peripheral blood film 19 Sep 2017 Finding Presenile cataracts Human Phenotype Ontology C0154971 HP:0007819 16 Feb 2016 Finding Presenile dementia, Kraepelin type C1867772 176600 16 Feb 2016 Disease Pressure ulcer Human Phenotype Ontology C0011127 HP:0012399 16 Feb 2016 Finding Pressure-induced localized lipoatrophy MONDO C1260961 MONDO:0019556 17 Apr 2020 Disease Presymptomatic 13 Oct 2017 Finding Presynaptic congenital myasthenic syndrome MONDO CN257737 MONDO:0020345 17 Apr 2020 Disease Preterm intraventricular hemorrhage Human Phenotype Ontology C4280789 HP:0030747 02 Apr 2017 Finding Preterm premature rupture of membranes NCBI curation C0729264 610504 16 Feb 2016 Disease Preterm, IUGR, delayed motor and speech development, high-pitched voice and recurrent chest infections CN186932 16 Feb 2016 Finding Pretesticular azoospermia Human Phenotype Ontology C4023105 HP:0011963 16 Feb 2016 Finding Pretibial epidermolysis bullosa Human Phenotype Ontology C0432321 HP:0012221 131850 10 Apr 2018 Disease Pretibial myxedema Human Phenotype Ontology C0033103 HP:0200028 16 Feb 2016 Finding Pretragal ectopia Human Phenotype Ontology C0266609 HP:0030024 16 Feb 2016 Finding Previous baby with genodermatoses (Ichthyosis) 15 Nov 2019 Finding Previous baby with ichthyosis 15 Nov 2019 Finding Previous child affected with dilated cardiomyopathy-2A 30 Jun 2018 Finding Previous child affected with Geleophysic Dysplasia. 18 May 2018 Finding Previous child died at the age of 6 months with respiratory distress, vomiting after feeding, hypoglycemia, excessive crying, and neonatal jaundice. 30 Jun 2018 Finding Previous child died due to Canavan disease 18 Jul 2018 Finding Previous child dies due to Canavan disease 18 Jul 2018 Finding Previous child expired at 4.5 years due to glutaric aciduria type 1. He was normal up to 8 months and eventually the episodes of seizures started followed by vomiting and diarrhea. 18 May 2018 Finding Previous child expired at the age of 4.5 years due to Glutaric acidemia type 1. He was normal up to the age of 8 months and eventually the episodes of seizures started followed by vomiting and diarrhea. 18 May 2018 Finding Previous child with chrX duplication CN234791 16 Feb 2016 Finding Previous child with Down syndrome CN241077 31 Mar 2017 Finding Previous child with trisomy 21 24 Nov 2017 Finding Previous siblings are affected with Gaucher diseases with known compound heterozygous mutation L444P/D380H 17 Jan 2019 Finding Previous two children died with clinical indication of jaundice, sudden stop of feeding, septicemia, multiple spots on face and respiratory distress, multiple organ failure and hepatic encephalopathy. 02 Feb 2018 Finding Previous two children expired due to jaundice, seizures, multiple spots on face, septicemia, respiratory distress, multiple organ failure and hepatic encephalopathy 02 Feb 2018 Finding Previous two fetuses were found to have occipital meningocele and were suspected to be affected with Meckel-Gruber syndrome. 01 Jul 2018 Finding Priapism Human Phenotype Ontology C1867771 HP:0200023 176620 16 Feb 2016 Finding Prieto syndrome MONDO C1839730 MONDO:0010667 309610 17 Apr 2020 Disease Primary adrenal insufficiency Human Phenotype Ontology C0001403 HP:0008207 16 Feb 2016 Finding Primary adult heart tumor MONDO C4275152 MONDO:0019493 17 Apr 2020 Disease Primary agammaglobulinemia 16 Feb 2016 Disease primary aldosteronism 13 Oct 2017 Finding Primary aldosteronism, seizures, and neurologic abnormalities NCBI curation C3809609 615474 16 Feb 2016 Disease Primary amebic meningoencephalitis CN281820 16 Feb 2016 Infectious disease Primary amenorrhea Human Phenotype Ontology C0232939 HP:0000786 16 Feb 2016 Finding Primary anetoderma MONDO C0406550 MONDO:0016444 17 Apr 2020 Disease Primary antiphospholipid syndrome MONDO C0409980 MONDO:0005204 17 Apr 2020 Disease Primary atrial arrhythmia Human Phenotype Ontology C0085611 HP:0001692 16 Feb 2016 Finding Primary autoimmune enteropathy MONDO CN258579 MONDO:0033862 17 Apr 2020 Disease Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders CN852732 10 Mar 2018 Disease Primary autosomal recessive microcephaly NCBI curation C3711387 16 Feb 2016 Disease Primary autosomal recessive microcephaly 1 NCBI curation C1855081 251200 16 Feb 2016 Disease Primary autosomal recessive microcephaly 10 NCBI curation C3554499 615095 16 Feb 2016 Disease Primary autosomal recessive microcephaly 11 NCBI curation C3809431 615414 16 Feb 2016 Disease Primary autosomal recessive microcephaly 12 NCBI curation C4015156 616080 16 Feb 2016 Disease Primary autosomal recessive microcephaly 13 NCBI curation C4015080 616051 16 Feb 2016 Disease Primary autosomal recessive microcephaly 14 NCBI curation C4225338 616402 16 Feb 2016 Disease Primary autosomal recessive microcephaly 15 NCBI curation C4225310 616486 16 Feb 2016 Disease Primary autosomal recessive microcephaly 2 NCBI curation C1858535 604317 16 Feb 2016 Disease Primary autosomal recessive microcephaly 3 NCBI curation C1858108 604804 16 Feb 2016 Disease Primary autosomal recessive microcephaly 4 NCBI curation C1858516 604321 16 Feb 2016 Disease Primary autosomal recessive microcephaly 5 NCBI curation C1837501 608716 16 Feb 2016 Disease Primary autosomal recessive microcephaly 6 NCBI curation C1842109 608393 16 Feb 2016 Disease Primary autosomal recessive microcephaly 7 NCBI curation C2675187 612703 16 Feb 2016 Disease Primary autosomal recessive microcephaly 8 NCBI curation C3553414 614673 16 Feb 2016 Disease Primary autosomal recessive microcephaly 9 NCBI curation C3553886 614852 16 Feb 2016 Disease Primary avascular necrosis MONDO CN229157 MONDO:0018379 17 Apr 2020 Disease Primary bacterial infectious disease MONDO CN281927 MONDO:0000314 04 Jun 2020 Infectious disease Primary basilar impression NCBI curation C1862299 109500 16 Feb 2016 Disease Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome MONDO CN263015 MONDO:0034189 17 Apr 2020 Disease Primary biliary cirrhosis NCBI curation C0008312 16 Feb 2016 Disease Primary biliary cirrhosis 1 NCBI curation C4551595 109720 16 Feb 2016 Disease Primary bone dysplasia MONDO CN229140 MONDO:0018230 17 Apr 2020 Disease Primary bone dysplasia with decreased bone density MONDO CN229213 MONDO:0019704 17 Apr 2020 Disease Primary bone dysplasia with defective bone mineralization MONDO CN227677 MONDO:0019705 17 Apr 2020 Disease Primary bone dysplasia with disorganized development of skeletal components MONDO CN229215 MONDO:0019708 17 Apr 2020 Disease Primary bone dysplasia with micromelia MONDO CN229142 MONDO:0018232 17 Apr 2020 Disease Primary bone dysplasia with multiple joint dislocations MONDO CN206616 MONDO:0019700 17 Apr 2020 Disease Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments MONDO CN229141 MONDO:0018231 17 Apr 2020 Disease Primary bone lymphoma MONDO C1332582 MONDO:0017814 17 Apr 2020 Disease Primary brain neoplasm MONDO C0750974 MONDO:0021632 17 Apr 2020 Disease Primary Caesarian section Human Phenotype Ontology C4072903 HP:0030363 16 Feb 2016 Finding Primary central nervous system lymphoma Human Phenotype Ontology C0280803 HP:0030069 16 Feb 2016 Finding Primary central nervous system vasculitis MONDO CN269756 MONDO:0015374 17 Apr 2020 Disease Primary central sleep apnea syndrome MONDO C0751762 MONDO:0024356 17 Apr 2020 Disease Primary cerebellar degeneration MONDO C0033132 MONDO:0004742 17 Apr 2020 Disease Primary ciliary dyskinesia OMIM phenotypic series C0008780 PS244400 20 Jul 2019 Disease primary ciliary dyskinesia and male infertility 29 Apr 2020 Finding Primary Ciliary Dyskinesia (DNAH5-related) 06 Mar 2019 Disease Primary ciliary dyskinesia 23 NCBI curation C3809548 615451 16 Feb 2016 Disease Primary ciliary dyskinesia 24 NCBI curation C3809634 615481 16 Feb 2016 Disease Primary ciliary dyskinesia 25 NCBI curation C3809641 615482 16 Feb 2016 Disease primary ciliary dyskinesia and male infertility 29 Apr 2020 Finding Primary condylar hyperplasia MONDO CN776830 MONDO:0018793 17 Apr 2020 Disease Primary congenital glaucoma Human Phenotype Ontology C1533041 HP:0008007 16 Feb 2016 Finding Primary congenital glaucoma (disease) MONDO MONDO:0000365 17 Apr 2020 Disease Primary congenital hypothyroidism MONDO C3715197 MONDO:0016409 17 Apr 2020 Disease Primary congenital hypothyroidism without thyroid developmental anomaly MONDO CN227706 MONDO:0019856 17 Apr 2020 Disease Primary cortisol resistance NCBI curation C2930863 16 Feb 2016 Disease Primary craniosynostosis 16 Feb 2016 Disease Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma MONDO C4518232 MONDO:0015811 17 Apr 2020 Disease Primary cutaneous anaplastic large cell lymphoma MONDO C1301362 MONDO:0017598 17 Apr 2020 Disease Primary cutaneous B-cell lymphoma MONDO C1274310 MONDO:0015820 17 Apr 2020 Disease Primary cutaneous CD30+ T-cell lymphoproliferative disease MONDO CN205268 MONDO:0018897 17 Apr 2020 Disease Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma MONDO CN200409 MONDO:0015810 17 Apr 2020 Disease Primary cutaneous diffuse large B-cell lymphoma, Leg type MONDO C1709656 MONDO:0006383 17 Apr 2020 Disease Primary cutaneous follicle center lymphoma MONDO C1333171 MONDO:0015814 17 Apr 2020 Disease Primary cutaneous gamma/delta-positive T-cell lymphoma MONDO CN200410 MONDO:0015812 17 Apr 2020 Disease Primary cutaneous lymphoma MONDO C1302772 MONDO:0018898 17 Apr 2020 Disease Primary cutaneous marginal zone B-cell lymphoma MONDO C1275321 MONDO:0015813 17 Apr 2020 Disease Primary cutaneous peripheral T-cell lymphoma not otherwise specified MONDO C0079774 MONDO:0019476 17 Apr 2020 Disease Primary cutaneous plasmacytosis MONDO C4736227 MONDO:0018679 17 Apr 2020 Disease Primary cutaneous T-cell lymphoma MONDO C0079773 MONDO:0015758 17 Apr 2020 Disease Primary cutaneous T-cell non-Hodgkin lymphoma MONDO MONDO:0000607 17 Apr 2020 Disease Primary degenerative dementia of the Alzheimer type, presenile onset C0750901 23 Aug 2019 Disease Primary dilated cardiomyopathy NCBI curation C0007193 16 Feb 2016 Disease Primary dysautonomia MONDO MONDO:0021809 17 Apr 2020 Disease Primary effusion lymphoma C1292753 16 Feb 2016 Disease Primary erythromelalgia C0014805 133020 16 Feb 2016 Disease Primary essential cutis verticis gyrata MONDO C4707327 MONDO:0018167 17 Apr 2020 Disease primary exertional headache 05 Sep 2019 Finding Primary eye hypotony MONDO C0154782 MONDO:0001503 17 Apr 2020 Disease Primary Familial Brain Calcification CN852731 10 Mar 2018 Disease Primary Familial Brain Calcification 5 CN230141 16 Feb 2016 Disease Primary familial hypertrophic cardiomyopathy NCBI curation C0949658 16 Feb 2016 Disease Primary familial polycythemia due to EPO receptor mutation MONDO C4551637 MONDO:0007572 133100 17 Apr 2020 Disease Primary familial xanthomatosis with involvement and calcification of the adrenal galnds 16 Feb 2016 Disease Primary gastrointestinal melanoma 16 Feb 2016 Disease Primary generalized epilepsy 12 Sep 2018 Disease Primary germ cell tumor of central nervous system MONDO CN201986 MONDO:0016738 17 Apr 2020 Disease Primary glomerular disease MONDO MONDO:0015163 17 Apr 2020 Disease Primary gonadal insufficiency Human Phenotype Ontology C1859014 HP:0008193 16 Feb 2016 Finding Primary hereditary glaucoma MONDO CN262044 MONDO:0015485 17 Apr 2020 Disease Primary hyperaldosteronism Human Phenotype Ontology C1384514 HP:0011736 16 Feb 2016 Disease Primary hypercorticolism Human Phenotype Ontology C4025760 HP:0001579 16 Feb 2016 Finding Primary hypereosinophilic syndrome MONDO CN203808 MONDO:0017833 17 Apr 2020 Disease Primary hyperoxaluria NCBI curation C0020501 16 Feb 2016 Disease Primary hyperoxaluria, type I C0268164 259900 16 Feb 2016 Disease Primary hyperoxaluria, type II C0268165 260000 16 Feb 2016 Disease Primary hyperoxaluria, type III NCBI curation C3150878 613616 16 Feb 2016 Disease Primary hyperparathyroidism Human Phenotype Ontology C0221002 HP:0008200 16 Feb 2016 Disease Primary hyperparathyroidism (disease) MONDO MONDO:0010837 17 Apr 2020 Disease Primary hypertrophic osteoarthropathy, autosomal recessive 2 NCBI curation C3280800 614441 16 Feb 2016 Disease Primary hypomagnesemia C0268448 248250 16 Feb 2016 Disease Primary hypophysitis MONDO C0342410 MONDO:0019835 17 Apr 2020 Disease Primary hypothyroidism Human Phenotype Ontology C4316995 HP:0000832 16 Feb 2016 Finding Primary Immune Deficiency 24 Jun 2020 Disease Primary immunodeficiency NCBI curation C0398686 20 Mar 2018 Disease Primary immunodeficiency disorders 16 Feb 2016 Disease Primary immunodeficiency due to a defect in adaptive immunity MONDO CN226745 MONDO:0015823 17 Apr 2020 Disease Primary immunodeficiency due to a genetic defect in innate immunity MONDO CN226603 MONDO:0015135 17 Apr 2020 Disease Primary immunodeficiency phenotype CN230742 16 Feb 2016 Finding Primary immunodeficiency with predisposition to severe viral infection MONDO CN237545 MONDO:0018545 17 Apr 2020 Disease Primary infectious MONDO MONDO:0045036 17 Apr 2020 Disease primary insomnia 05 Sep 2019 Disease Primary interstitial lung disease in childhood and adulthood MONDO CN202342 MONDO:0017031 17 Apr 2020 Disease Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder MONDO CN202344 MONDO:0017032 17 Apr 2020 Disease Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder MONDO CN202345 MONDO:0017033 17 Apr 2020 Disease Primary interstitial lung disease specific to adulthood MONDO CN202339 MONDO:0017027 17 Apr 2020 Disease Primary interstitial lung disease specific to childhood MONDO CN202326 MONDO:0017015 17 Apr 2020 Disease Primary interstitial lung disease specific to childhood due to alveolar structure disorder MONDO CN202327 MONDO:0017016 17 Apr 2020 Disease Primary interstitial lung disease specific to childhood due to alveolar vascular disorder MONDO CN202329 MONDO:0017017 17 Apr 2020 Disease Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies Orphanet CN924904 ORPHA100049 08 Apr 2018 Disease Primary intrahepatic lithiasis MONDO CN776837 MONDO:0018806 17 Apr 2020 Disease Primary intralymphatic angioendothelioma MONDO C0346087 MONDO:0018714 17 Apr 2020 Disease Primary intraosseous squamous cell carcinoma MONDO C1709663 MONDO:0006385 17 Apr 2020 Disease Primary lacrimal atrophy MONDO C0155229 MONDO:0001851 17 Apr 2020 Disease Primary laryngeal lymphangioma MONDO C4706521 MONDO:0015314 17 Apr 2020 Disease Primary lateral sclerosis 16 Feb 2016 Disease Primary lateral sclerosis, adult, 1 NCBI curation C1968845 611637 16 Feb 2016 Disease Primary lipodystrophy MONDO MONDO:0019599 17 Apr 2020 Disease Primary localized amyloidosis MONDO CN203787 MONDO:0017817 17 Apr 2020 Disease Primary localized cutaneous amyloidosis 1 NCBI curation C4551501 105250 16 Feb 2016 Disease Primary low grade serous adenocarcinoma of ovary C4302356 27 Nov 2019 Disease Primary lymphedema with associated anomalies MONDO MONDO:0018722 17 Apr 2020 Disease Primary lymphoma of the conjunctiva MONDO C4706485 MONDO:0017907 17 Apr 2020 Disease Primary malignant lymphoma 16 Feb 2016 Disease Primary malignant melanoma of the cervix 16 Feb 2016 Disease Primary malignant melanoma of the conjunctiva 16 Feb 2016 Disease Primary malignant peritoneal tumor MONDO CN200181 MONDO:0015683 17 Apr 2020 Disease Primary mast cell activation syndrome MONDO MONDO:0100005 17 Apr 2020 Disease Primary mediastinal large B-cell lymphoma MONDO C1292754 MONDO:0020323 17 Apr 2020 Disease Primary megaureter, adult-onset form MONDO CN201632 MONDO:0016549 17 Apr 2020 Disease Primary melanocytic tumor of central nervous system MONDO CN201991 MONDO:0016744 17 Apr 2020 Disease Primary melanoma of the central nervous system MONDO C0349626 MONDO:0016747 17 Apr 2020 Disease Primary microcephaly C0431350 16 Feb 2016 Finding Primary Microcephaly 2 With or Without Cortical Malformations CN239163 02 Dec 2016 Disease Primary Microcephaly, Recessive CN239428 02 Dec 2016 Disease Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome MONDO C5190597 MONDO:0018320 17 Apr 2020 Disease Primary motor cortex epilepsy MONDO C0234978 MONDO:0041284 17 Apr 2020 Disease primary myelofibrosis CN232337 16 Feb 2016 Finding Primary myoclonus MONDO CN262050 MONDO:0017651 17 Apr 2020 Disease Primary non-essential cutis verticis gyrata MONDO C4755295 MONDO:0018168 17 Apr 2020 Disease Primary non-gestational choriocarcinoma of ovary MONDO C4274424 MONDO:0017327 17 Apr 2020 Disease Primary oculocerebral lymphoma MONDO CN202677 MONDO:0017205 17 Apr 2020 Disease Primary open angle glaucoma Human Phenotype Ontology C0339573 HP:0012108 137760 10 Apr 2018 Disease Primary Open Angle Glaucoma (Adult Onset) CN118827 16 Feb 2016 Disease primary optic atrophy C0155291 18 Jan 2019 Finding Primary orthostatic hypotension MONDO CN261549 MONDO:0015914 17 Apr 2020 Disease Primary orthostatic tremor C0878578 16 Feb 2016 Disease Primary osteolysis MONDO CN229214 MONDO:0019707 17 Apr 2020 Disease Primary ovarian failure 16 Feb 2016 Finding Primary Ovarian Insufficiency 11 Feb 2020 Disease Primary pediatric heart tumor MONDO CN206281 MONDO:0019494 17 Apr 2020 Disease primary peritoneal cancer CN235602 19 Mar 2016 Finding Primary peritoneal carcinoma Human Phenotype Ontology C1514428 HP:0030406 16 Feb 2016 Finding Primary peritoneal carcinoma (disease) MONDO C0334361 MONDO:0015686 17 Apr 2020 Disease Primary peritoneal serous adenocarcinoma MONDO C1514429 MONDO:0006386 17 Apr 2020 Disease Primary peritoneal serous/papillary carcinoma MONDO CN205035 MONDO:0018368 17 Apr 2020 Disease Primary peritoneal tumor MONDO CN200180 MONDO:0015682 17 Apr 2020 Disease Primary pigmented nodular adrenocortical disease Orphanet C4304832 ORPHA189439 01 Jul 2017 Disease Primary plasmacytoma of the bone MONDO CN197327 MONDO:0015042 17 Apr 2020 Disease Primary polyarteritis nodosa MONDO CN237623 MONDO:0018593 17 Apr 2020 Disease Primary polydipsia MONDO MONDO:0040870 17 Apr 2020 Disease Primary progressive aphasia NCBI curation C0282513 16 Feb 2016 Disease Primary progressive apraxia of speech Orphanet CN257762 ORPHA314566 02 Nov 2018 Disease Primary progressive freezing gait MONDO C4275078 MONDO:0019160 17 Apr 2020 Disease Primary progressive multiple sclerosis NCBI curation C0751964 03 Feb 2018 Disease Primary progressive non fluent aphasia NCBI curation C0751706 06 Mar 2019 Disease Primary prostate urothelial carcinoma MONDO C1514430 MONDO:0002834 17 Apr 2020 Disease Primary pulmonary diffuse large B-cell lymphoma MONDO C1709666 MONDO:0006387 17 Apr 2020 Disease Primary pulmonary hypertension C4552070 178600 16 Feb 2016 Disease Primary pulmonary hypertension 2 NCBI curation C3888002 615342 16 Feb 2016 Disease Primary pulmonary hypertension 3 NCBI curation C3809192 615343 16 Feb 2016 Disease Primary pulmonary hypertension 4 NCBI curation C3809198 615344 16 Feb 2016 Disease Primary pulmonary hypoplasia C0456891 265430 16 Feb 2016 Disease Primary pulmonary lymphoma MONDO C4273669 MONDO:0016570 17 Apr 2020 Disease Primary qualitative or quantitative defects of alpha-dystroglycan MONDO CN227299 MONDO:0018283 17 Apr 2020 Disease Primary release disorder of platelets C1867770 176630 16 Feb 2016 Disease Primary renal tubular acidosis MONDO CN229108 MONDO:0017828 17 Apr 2020 Disease Primary sclerosing cholangitis NCBI curation C0566602 613806 16 Feb 2016 Disease Primary short bowel syndrome MONDO CN204780 MONDO:0018241 17 Apr 2020 Disease Primary skin meningioma MONDO MONDO:0024663 17 Apr 2020 Disease Primary syphilis MONDO C2931317 MONDO:0002896 04 Jun 2020 Infectious disease Primary syringomyelia MONDO C1299627 MONDO:0020508 17 Apr 2020 Disease Primary systemic amyloidosis MONDO C0281479 MONDO:0017816 22 Apr 2020 Disease Primary systemic mycosis MONDO CN281925 MONDO:0000308 04 Jun 2020 Infectious disease Primary testicular failure Human Phenotype Ontology C1384582 HP:0008720 16 Feb 2016 Finding Primary tethered cord syndrome MONDO C4708602 MONDO:0017086 17 Apr 2020 Disease Primary thrombocytopenia MONDO C0701157 MONDO:0004680 17 Apr 2020 Disease Primary tubular proximal acidosis 16 Feb 2016 Disease Primary unilateral adrenal hyperplasia MONDO C4274967 MONDO:0016504 17 Apr 2020 Disease Primitive neuroectodermal tumor Human Phenotype Ontology C0206663 HP:0030065 16 Feb 2016 Finding Primitive neuroectodermal tumor of the cervix uteri MONDO CN201074 MONDO:0016284 17 Apr 2020 Disease Primitive neuroectodermal tumor of the corpus uteri MONDO CN201052 MONDO:0016263 17 Apr 2020 Disease Primitive reflex Human Phenotype Ontology C1838319 HP:0002476 02 Apr 2017 Finding Primordial dwarfism CN228289 16 Feb 2016 Finding primray hypomagnesemia with secondary hypocalcemia 11 Oct 2018 Disease Primum atrial septal defect Human Phenotype Ontology C0344735 HP:0010445 16 Feb 2016 Finding Prinzmetal angina C0002963 16 Feb 2016 Disease Prion disease MONDO CN281763 MONDO:0005429 04 Jun 2020 Infectious disease Prion disease, susceptibility to NCBI curation 16 Feb 2016 Disease PRKAG2 cardiac syndrome CN221579 16 Feb 2016 Disease PRKAG2-Related Disorders 23 May 2019 Disease PRKAR1B-related neurodegenerative dementia with intermediate filaments MONDO C4751505 MONDO:0018475 17 Apr 2020 Disease PRNP-associated condition 18 Sep 2019 Finding PROALBUMIN JAFFNA 16 Feb 2016 Named protein variant PROALBUMIN LILLE 16 Feb 2016 Named protein variant PROALBUMIN MALMO 16 Feb 2016 Named protein variant PROALBUMIN TAKEFU 16 Feb 2016 Named protein variant Proboscis Human Phenotype Ontology C0687082 HP:0012806 16 Feb 2016 Finding Proboscis lateralis MONDO C4274985 MONDO:0015390 17 Apr 2020 Disease Procainamide Response CN282569 17 Jun 2020 Pharmacological response Procarcinoma 16 Feb 2016 Disease Prochymosin NCBI curation 16 Feb 2016 Disease Proconvertin deficiency, congenital 16 Feb 2016 Disease Proctitis C0033246 16 Feb 2016 Disease Proctocolitis MONDO C0033247 MONDO:0024278 17 Apr 2020 Disease Proctosigmoiditis MONDO C0033252 MONDO:0021736 17 Apr 2020 Disease Productive cough Human Phenotype Ontology C0239134 HP:0031245 04 Apr 2018 Finding Profound global developmental delay Human Phenotype Ontology C3553450 HP:0012736 16 Feb 2016 Finding Profound hearing impairment Human Phenotype Ontology C4022756 HP:0012715 16 Feb 2016 Finding profound myopathy 15 Nov 2019 Finding Profound psychomotor developmental delay without verbal expression 01 Nov 2018 Finding Profound sensorineural hearing impairment Human Phenotype Ontology C4023338 HP:0011476 16 Feb 2016 Finding Profound static encephalopathy Human Phenotype Ontology C4024944 HP:0007069 16 Feb 2016 Finding Profuse pigmented skin lesions Human Phenotype Ontology C1834424 HP:0005587 16 Feb 2016 Finding Progeria OMIM phenotypic series CN236401 PS176670 02 May 2016 Disease Progeria variant syndrome Ruvalcaba type 16 Feb 2016 Disease Progeria-associated arthropathy MONDO MONDO:0020477 17 Apr 2020 Disease Progeroid facial appearance Human Phenotype Ontology C1857710 HP:0005328 16 Feb 2016 Finding Progeroid facial appearance with hand anomalies NCBI curation C1865699 602249 16 Feb 2016 Disease Progeroid mandibuloacral dysplasia 23 Jan 2020 Finding Progeroid short stature with pigmented nevi C1261128 176690 16 Feb 2016 Disease Progeroid syndrome MONDO CN199363 MONDO:0015333 17 Apr 2020 Disease Progeroid syndrome Petty type C2931653 16 Feb 2016 Disease Progesterone resistance NCBI curation C1849699 264080 16 Feb 2016 Disease Progesterone-receptor negative breast cancer MONDO MONDO:0000616 17 Apr 2020 Disease Progesterone-receptor positive breast cancer MONDO MONDO:0000615 17 Apr 2020 Disease progressing contractures 13 Feb 2020 Finding progressive CN232553 16 Feb 2016 Finding progressive _ Audiologic/Otolaryngologic (adult onset) CN232458 16 Feb 2016 Finding progressive _ Cardiovascular (child onset) CN232504 16 Feb 2016 Finding progressive _ Gastrointestinal (child onset) CN232515 16 Feb 2016 Finding progressive _ Genitourinary (child onset) CN232517 16 Feb 2016 Finding progressive _ Hematologic (child onset) CN232519 16 Feb 2016 Finding progressive _ Metabolic/ Biochemical (child onset) CN232493 16 Feb 2016 Finding progressive _ Musculoskeletal/Structural (child onset) CN232523 16 Feb 2016 Finding progressive _ Neurologic (child onset) CN232527 16 Feb 2016 Finding Progressive alopecia Human Phenotype Ontology C1851885 HP:0002287 16 Feb 2016 Finding Progressive alveolar ridge hypertropy Human Phenotype Ontology C1854934 HP:0009092 16 Feb 2016 Finding progressive and profound weakness and wasting of the upper and lower extremities 26 Feb 2020 Finding Progressive bifocal chorioretinal atrophy MONDO C1833321 MONDO:0010932 600790 22 Apr 2020 Disease Progressive black carbon hyperpigmentation of infancy 16 Feb 2016 Disease Progressive bowing of long bones Human Phenotype Ontology C1857137 HP:0006383 16 Feb 2016 Finding Progressive bulbar palsy of childhood C0015708 211500 16 Feb 2016 Disease Progressive calcification of costochondral cartilage Human Phenotype Ontology C1968577 HP:0006600 16 Feb 2016 Finding Progressive cataract Human Phenotype Ontology C4021566 HP:0007834 16 Feb 2016 Finding Progressive cavitating leukoencephalopathy MONDO C4304840 MONDO:0015349 17 Apr 2020 Disease Progressive cerebellar ataxia Human Phenotype Ontology C0393525 HP:0002073 16 Feb 2016 Finding progressive cerebellar atrophy C1864929 16 Feb 2016 Finding Progressive cervical vertebral spine fusion Human Phenotype Ontology C1851129 HP:0008449 16 Feb 2016 Finding Progressive childhood encephalopathy NCBI curation CN417131 20 Jul 2017 Disease Progressive choreoathetosis Human Phenotype Ontology C1860216 HP:0007326 16 Feb 2016 Finding Progressive clavicular acroosteolysis Human Phenotype Ontology C1837757 HP:0000905 16 Feb 2016 Finding Progressive conductive hearing impairment Human Phenotype Ontology C1861325 HP:0008607 16 Feb 2016 Finding Progressive cone degeneration Human Phenotype Ontology C3665342 HP:0008020 16 Feb 2016 Finding Progressive cone dystrophy (without rod involvement) NCBI curation C0271092 19 Jul 2019 Disease Progressive congenital scoliosis Human Phenotype Ontology C1857025 HP:0008458 16 Feb 2016 Finding progressive contractures of upper and lower extremities 26 Feb 2020 Finding Progressive deafness with stapes fixation MONDO C1832354 MONDO:0011080 601449 22 Apr 2020 Disease Progressive deterioration of neurologic function CN234397 16 Feb 2016 Finding progressive disease C1335499 16 Feb 2016 Finding Progressive distal muscle weakness Human Phenotype Ontology C1836609 HP:0009063 16 Feb 2016 Finding Progressive distal muscular atrophy Human Phenotype Ontology C4024613 HP:0008955 16 Feb 2016 Finding Progressive encephalomyelitis with rigidity NCBI curation 16 Feb 2016 Disease Progressive encephalomyelitis with rigidity and myoclonus MONDO C1861457 MONDO:0018581 17 Apr 2020 Disease Progressive encephalopathy Human Phenotype Ontology C1838578 HP:0002448 16 Feb 2016 Finding Progressive epilepsy and/or ataxia with myoclonus as a major feature MONDO MONDO:0017655 17 Apr 2020 Disease Progressive external ophthalmoplegia Human Phenotype Ontology C0162674 HP:0000590 16 Feb 2016 Disease Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions CN239267 02 Dec 2016 Disease Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 NCBI curation C3554599 615156 16 Feb 2016 Disease Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 NCBI curation C4225312 616479 24 Aug 2016 Disease Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 NCBI curation C4310734 617069 24 Aug 2016 Disease Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 NCBI curation C4310733 617070 24 Aug 2016 Disease PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 OMIM C4748184 618098 618098 08 Sep 2018 Disease Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic NCBI curation C1868097 24 Aug 2016 Disease Progressive external ophthalmoplegia with myoclonus NCBI curation C4016622 16 Feb 2016 Disease Progressive external ophthalmoplegia, proximal myopathy, and sudden death NCBI curation C4016616 16 Feb 2016 Disease Progressive extrapyramidal movement disorder Human Phenotype Ontology C2748610 HP:0007153 16 Feb 2016 Finding Progressive extrapyramidal muscular rigidity Human Phenotype Ontology C4021580 HP:0007158 16 Feb 2016 Finding Progressive familial heart block OMIM phenotypic series CN230454 PS113900 16 Feb 2016 Disease Progressive familial heart block type IB MONDO C1970298 MONDO:0011474 604559 22 Apr 2020 Disease Progressive familial heart block type II MONDO C1841658 MONDO:0007701 140400 22 Apr 2020 Disease Progressive familial heart block, type 1A MONDO C1879286 MONDO:0007240 113900 22 Apr 2020 Disease Progressive familial intrahepatic cholestasis NCBI curation C0268312 25 Jan 2020 Disease Progressive familial intrahepatic cholestasis 2 NCBI curation C3489789 601847 16 Feb 2016 Disease Progressive familial intrahepatic cholestasis 3 NCBI curation C1865643 602347 16 Feb 2016 Disease Progressive familial intrahepatic cholestasis 4 NCBI curation C2931067 615878 16 Feb 2016 Disease Progressive family intrahepatic cholestasis CN544764 19 Oct 2017 Disease Progressive flexion contractures Human Phenotype Ontology C3279322 HP:0005876 16 Feb 2016 Finding Progressive forearm bowing Human Phenotype Ontology C3152020 HP:0005891 16 Feb 2016 Finding Progressive forgetfulness Human Phenotype Ontology C3277688 HP:0007017 16 Feb 2016 Finding Progressive fusion 2nd-5th pip joints Human Phenotype Ontology C1861310 HP:0006147 16 Feb 2016 Finding Progressive gait ataxia Human Phenotype Ontology C1843885 HP:0007240 16 Feb 2016 Finding Progressive hearing impairment Human Phenotype Ontology C1842138 HP:0001730 16 Feb 2016 Finding Progressive hereditary glomerulonephritis without deafness C0403443 161900 16 Feb 2016 Disease progressive hoarseness 13 Feb 2020 Finding Progressive hyperpigmentation Human Phenotype Ontology C4024859 HP:0007505 16 Feb 2016 Finding progressive hypotonia CN228791 16 Feb 2016 Finding Progressive hypotrichosis Human Phenotype Ontology C1857048 HP:0002296 16 Feb 2016 Finding Progressive impairment of motor functions 29 Aug 2018 Finding Progressive inability to walk Human Phenotype Ontology C1836843 HP:0002505 16 Feb 2016 Finding Progressive inspiratory stridor Human Phenotype Ontology C4025096 HP:0005951 16 Feb 2016 Finding Progressive intervertebral space narrowing Human Phenotype Ontology C1837670 HP:0004622 16 Feb 2016 Finding Progressive joint destruction Human Phenotype Ontology C4025243 HP:0005187 16 Feb 2016 Finding Progressive kinking of the hair, acquired 16 Feb 2016 Disease Progressive language deterioration Human Phenotype Ontology C1843793 HP:0007064 16 Feb 2016 Finding Progressive leg bowing Human Phenotype Ontology C1855191 HP:0006409 16 Feb 2016 Finding Progressive leukoencephalopathy Human Phenotype Ontology C1855010 HP:0006980 16 Feb 2016 Finding Progressive limb weakness CN228304 16 Feb 2016 Finding Progressive loss of facial adipose tissue Human Phenotype Ontology C1837510 HP:0009019 16 Feb 2016 Finding Progressive macrocephaly Human Phenotype Ontology C1859896 HP:0004481 16 Feb 2016 Finding Progressive microcephaly Human Phenotype Ontology C1850456 HP:0000253 16 Feb 2016 Finding Progressive multifocal leukoencephalopathy C0023524 16 Feb 2016 Infectious disease Progressive muscle weakness Human Phenotype Ontology C0240421 HP:0003323 16 Feb 2016 Finding Progressive muscular dystrophy NCBI curation CN241791 06 Apr 2017 Disease Progressive myoclonic epilepsy C0751778 16 Feb 2016 Disease Progressive myoclonic epilepsy with dystonia MONDO C4706413 MONDO:0018126 17 Apr 2020 Disease Progressive myoclonic epilepsy, X-linked NCBI curation CN263077 310370 26 Dec 2019 Disease Progressive myoclonus epilepsy NCBI curation 16 Feb 2016 Disease Progressive myoclonus epilepsy with ataxia NCBI curation C2676254 612437 16 Feb 2016 Disease Progressive myositis ossificans C0016037 135100 16 Feb 2016 Disease Progressive neurodegenerative disease CN239854 11 Jan 2017 Disease Progressive neurologic deterioration Human Phenotype Ontology C1854838 HP:0002344 16 Feb 2016 Finding Progressive neurological disease 21 Dec 2019 Finding Progressive night blindness Human Phenotype Ontology C4024818 HP:0007675 16 Feb 2016 Finding Progressive nodular histiocytosis MONDO C4707331 MONDO:0015539 17 Apr 2020 Disease Progressive non-fluent aphasia 06 Mar 2019 Finding Progressive non-infectious anterior vertebral fusion MONDO C4304839 MONDO:0016087 17 Apr 2020 Disease Progressive ophthalmoplegia Human Phenotype Ontology C2062713 HP:0007650 16 Feb 2016 Finding Progressive osseous heteroplasia C0334041 166350 16 Feb 2016 Disease Progressive peripheral neuropathy Human Phenotype Ontology C1859178 HP:0007133 16 Feb 2016 Finding Progressive peripheral pterygium MONDO C0155155 MONDO:0001723 17 Apr 2020 Disease Progressive pes cavus Human Phenotype Ontology C1846017 HP:0008075 16 Feb 2016 Finding Progressive proximal muscle weakness Human Phenotype Ontology C1836156 HP:0009073 16 Feb 2016 Finding progressive proximal weakness 13 Feb 2020 Finding Progressive pseudorheumatoid dysplasia C0432215 208230 16 Feb 2016 Disease Progressive psychomotor deterioration Human Phenotype Ontology C1856565 HP:0007272 16 Feb 2016 Finding Progressive ptosis Human Phenotype Ontology C1834015 HP:0007838 16 Feb 2016 Finding Progressive pulmonary function impairment Human Phenotype Ontology C1849570 HP:0006520 16 Feb 2016 Finding Progressive recessive dystrophic epidermolysis bullosa C0268368 226500 16 Feb 2016 Disease Progressive relapsing multiple sclerosis MONDO C0393666 MONDO:0000452 17 Apr 2020 Disease Progressive reticulate hyperpigmentation Human Phenotype Ontology C4024872 HP:0007456 16 Feb 2016 Finding Progressive retinal degeneration Human Phenotype Ontology C1854888 HP:0007893 16 Feb 2016 Finding Progressive sclerosing poliodystrophy C0205710 203700 16 Feb 2016 Disease Progressive sclerosis of skull base Human Phenotype Ontology C1835470 HP:0005477 16 Feb 2016 Finding Progressive sensorineural hearing impairment Human Phenotype Ontology C1843156 HP:0000408 16 Feb 2016 Finding Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome MONDO C2931767 MONDO:0016424 17 Apr 2020 Disease Progressive spastic diplegia CN235484 11 Mar 2016 Finding Progressive spastic paraparesis Human Phenotype Ontology C0747251 HP:0007199 16 Feb 2016 Finding Progressive spastic paraplegia Human Phenotype Ontology C1855483 HP:0007020 16 Feb 2016 Finding Progressive spastic quadriplegia Human Phenotype Ontology C1859736 HP:0002478 16 Feb 2016 Finding progressive spastic tetraplegia CN219810 16 Feb 2016 Finding Progressive spasticity Human Phenotype Ontology C1859520 HP:0002191 16 Feb 2016 Finding Progressive spinal muscular atrophy Human Phenotype Ontology C4082951 HP:0009067 16 Feb 2016 Finding progressive spinocerebellar ataxia CN228657 16 Feb 2016 Finding Progressive supranuclear ophthalmoplegia C4551863 601104 16 Feb 2016 Disease Progressive supranuclear palsy atypical 16 Feb 2016 Disease Progressive supranuclear palsy-corticobasal syndrome MONDO CN201681 MONDO:0016563 17 Apr 2020 Disease Progressive supranuclear palsy-progressive non-fluent aphasia syndrome MONDO CN226962 MONDO:0016564 17 Apr 2020 Disease Progressive supranuclear palsy-pure akinesia with gait freezing syndrome MONDO CN226961 MONDO:0016562 17 Apr 2020 Disease Progressive transformation of germinal centers C1514481 16 Feb 2016 Disease Progressive truncal ataxia Human Phenotype Ontology C1849143 HP:0007221 16 Feb 2016 Finding Progressive ventriculomegaly Human Phenotype Ontology C1865119 HP:0007100 16 Feb 2016 Finding Progressive visual field defects Human Phenotype Ontology C4024760 HP:0007987 16 Feb 2016 Finding Progressive visual loss Human Phenotype Ontology C1839364 HP:0000529 16 Feb 2016 Finding Progressive vitiligo Human Phenotype Ontology C3806428 HP:0005602 16 Feb 2016 Finding progressive weakness 13 Feb 2020 Finding progressive-generalized dystonia CN232689 16 Feb 2016 Finding Proguanil, poor metabolism of NCBI curation C1836026 16 Feb 2016 Disease Projectile vomiting Human Phenotype Ontology C0221151 HP:0002587 16 Feb 2016 Finding Projection of scalp hair onto lateral cheek Human Phenotype Ontology C4024296 HP:0009554 16 Feb 2016 Finding Prolactin deficiency with obesity and enlarged testes NCBI curation C1849698 264120 16 Feb 2016 Disease Prolactin producing pituitary tumor MONDO C0278863 MONDO:0003430 17 Apr 2020 Disease Prolactin-producing pituitary gland adenoma MONDO C0033375 MONDO:0010911 600634 17 Apr 2020 Disease Prolactin-producing pituitary gland carcinoma MONDO C1334614 MONDO:0006388 17 Apr 2020 Disease Prolactinoma Human Phenotype Ontology CN241744 HP:0040278 02 Apr 2017 Finding Prolapse of female genital organ MONDO C0156349 MONDO:0001592 17 Apr 2020 Disease Prolapse of lacrimal gland MONDO C0155231 MONDO:0001203 17 Apr 2020 Disease Prolapsed mitral valve 25 Jan 2018 Finding Prolerating trichilemmal cyst 16 Feb 2016 Disease Prolidase deficiency NCBI curation C0268532 170100 16 Feb 2016 Disease Proliferating trichilemmal cyst MONDO C0345992 MONDO:0018850 17 Apr 2020 Disease Proliferative diabetic retinopathy MONDO C0154830 MONDO:0001660 17 Apr 2020 Disease Proliferative fasciitis MONDO C0432528 MONDO:0004831 17 Apr 2020 Disease Proliferative glomerulonephritis MONDO C0235618 MONDO:0003134 17 Apr 2020 Disease Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome NCBI curation C1856972 225790 16 Feb 2016 Disease Proline dehydrogenase deficiency C0268529 239500 16 Feb 2016 Disease Proline-negative auxotroph of hamster, complementation of NCBI curation C1867728 176770 16 Feb 2016 Disease Prolinuria Human Phenotype Ontology C0268534 HP:0003137 16 Feb 2016 Finding Prolonged bleeding after dental extraction Human Phenotype Ontology C1969572 HP:0006298 16 Feb 2016 Finding Prolonged bleeding after surgery Human Phenotype Ontology C4021646 HP:0004846 16 Feb 2016 Finding Prolonged bleeding following circumcision Human Phenotype Ontology C4022611 HP:0030137 16 Feb 2016 Finding Prolonged bleeding following procedure Human Phenotype Ontology C4023142 HP:0011890 16 Feb 2016 Finding Prolonged bleeding time Human Phenotype Ontology C0151529 HP:0003010 16 Feb 2016 Finding Prolonged bleeding time, brachydactyly, and mental retardation NCBI curation C1841727 16 Feb 2016 Disease Prolonged brainstem auditory evoked potentials Human Phenotype Ontology C4025322 HP:0004466 16 Feb 2016 Finding Prolonged euglobulin clot lysis time Human Phenotype Ontology C4280705 HP:0040243 02 Apr 2017 Finding Prolonged G2 phase of cell cycle Human Phenotype Ontology C4025639 HP:0003214 16 Feb 2016 Finding Prolonged miniature endplate currents Human Phenotype Ontology C1864238 HP:0003436 16 Feb 2016 Finding Prolonged neonatal jaundice Human Phenotype Ontology C1859236 HP:0006579 16 Feb 2016 Finding Prolonged partial thromboplastin time Human Phenotype Ontology C0240671 HP:0003645 16 Feb 2016 Finding Prolonged PR interval Human Phenotype Ontology C0600125 HP:0012248 16 Feb 2016 Finding Prolonged prothrombin time Human Phenotype Ontology C0853225 HP:0008151 16 Feb 2016 Finding Prolonged QRS complex Human Phenotype Ontology C0235475 HP:0006677 16 Feb 2016 Finding Prolonged QT interval Human Phenotype Ontology C0151878 HP:0001657 16 Feb 2016 Finding Prolonged QTc interval Human Phenotype Ontology C1560305 HP:0005184 16 Feb 2016 Finding Prolonged Russell's viper venom time Human Phenotype Ontology C4280704 HP:0040244 02 Apr 2017 Finding Prolonged somatosensory evoked potentials Human Phenotype Ontology C4024939 HP:0007104 16 Feb 2016 Finding Prolonged whole-blood clotting time Human Phenotype Ontology C0151563 HP:0005542 16 Feb 2016 Finding PROM1-Related Disorders 23 May 2019 Disease Promiment forehead 23 Jan 2020 Finding Prominence of the premaxilla Human Phenotype Ontology C2749369 HP:0010759 16 Feb 2016 Finding Prominence of the zygomatic bone Human Phenotype Ontology C0375511 HP:0012370 16 Feb 2016 Finding Prominent antihelix Human Phenotype Ontology C1845272 HP:0000395 16 Feb 2016 Finding Prominent antitragus Human Phenotype Ontology C1968811 HP:0008593 16 Feb 2016 Finding prominent broad forehead 22 Aug 2019 Finding Prominent calcaneus Human Phenotype Ontology C4021088 HP:0012428 16 Feb 2016 Finding Prominent coccyx Human Phenotype Ontology C4022490 HP:0040016 16 Feb 2016 Finding Prominent corneal nerve fibers Human Phenotype Ontology C4021233 HP:0010726 16 Feb 2016 Finding Prominent crus of helix Human Phenotype Ontology C4021377 HP:0009899 16 Feb 2016 Finding Prominent deltoid tuberosities Human Phenotype Ontology C2674600 HP:0003890 16 Feb 2016 Finding Prominent digit pad Human Phenotype Ontology C4023424 HP:0011298 16 Feb 2016 Finding Prominent ear helix Human Phenotype Ontology C4024165 HP:0009904 16 Feb 2016 Finding Prominent ears with wide lobes 21 Dec 2019 Finding Prominent epicanthal folds Human Phenotype Ontology C1697450 HP:0007930 16 Feb 2016 Finding Prominent eyelashes Human Phenotype Ontology C4023450 HP:0011231 16 Feb 2016 Finding Prominent fingertip pads Human Phenotype Ontology C1835807 HP:0001212 16 Feb 2016 Finding Prominent floating ribs Human Phenotype Ontology C4025012 HP:0006641 16 Feb 2016 Finding Prominent forehead Human Phenotype Ontology C1837260 HP:0011220 16 Feb 2016 Finding Prominent forehead, asymmetric 23 Jan 2020 Finding Prominent frontal sinuses Human Phenotype Ontology C1969404 HP:0005478 16 Feb 2016 Finding prominent gingiva 22 Aug 2019 Finding Prominent glabella Human Phenotype Ontology C1860247 HP:0002057 16 Feb 2016 Finding Prominent glabella-microcephaly-hypogenitalism syndrome MONDO C0796024 MONDO:0009543 247990 17 Apr 2020 Disease prominent incisors C3279422 16 Feb 2016 Finding Prominent inferior crus of antihelix Human Phenotype Ontology C4021195 HP:0011238 16 Feb 2016 Finding Prominent interdigital folds Human Phenotype Ontology C1866000 HP:0006189 16 Feb 2016 Finding Prominent interphalangeal joints Human Phenotype Ontology C1859115 HP:0006237 16 Feb 2016 Finding Prominent median palatal raphe Human Phenotype Ontology C1845108 HP:0002708 16 Feb 2016 Finding Prominent metopic ridge Human Phenotype Ontology C1857949 HP:0005487 16 Feb 2016 Finding prominent midline groove of tongue CN234776 16 Feb 2016 Finding Prominent nasal bridge Human Phenotype Ontology C1854113 HP:0000426 16 Feb 2016 Finding Prominent nasal bridge short philtrum 23 Jan 2020 Finding Prominent nasal septum Human Phenotype Ontology C4025216 HP:0005322 16 Feb 2016 Finding Prominent nasal tip Human Phenotype Ontology C1856118 HP:0005274 16 Feb 2016 Finding Prominent nasolabial fold Human Phenotype Ontology C1866487 HP:0005272 16 Feb 2016 Finding Prominent nipples Human Phenotype Ontology C1855513 HP:0004405 16 Feb 2016 Finding Prominent nose Human Phenotype Ontology C0426415 HP:0000448 16 Feb 2016 Finding Prominent occiput Human Phenotype Ontology C1853737 HP:0000269 16 Feb 2016 Finding Prominent palatine ridges Human Phenotype Ontology C4021300 HP:0010291 16 Feb 2016 Finding Prominent palmar flexion creases Human Phenotype Ontology C1865131 HP:0006157 16 Feb 2016 Finding prominent premaxilla 16 May 2019 Finding Prominent prostate median bar Human Phenotype Ontology C4024629 HP:0008742 16 Feb 2016 Finding Prominent protruding coccyx Human Phenotype Ontology C1850044 HP:0008472 16 Feb 2016 Finding Prominent proximal interphalangeal joints Human Phenotype Ontology C4025085 HP:0006167 16 Feb 2016 Finding Prominent scalp veins Human Phenotype Ontology C1856542 HP:0001043 16 Feb 2016 Finding Prominent scrotal raphe Human Phenotype Ontology C1852407 HP:0003246 16 Feb 2016 Finding Prominent stem of antihelix Human Phenotype Ontology C4020910 HP:0011240 16 Feb 2016 Finding Prominent sternum Human Phenotype Ontology C1846433 HP:0000884 16 Feb 2016 Finding Prominent styloid process of ulna Human Phenotype Ontology C4025262 HP:0004981 16 Feb 2016 Finding Prominent superficial blood vessels Human Phenotype Ontology C1848771 HP:0007394 16 Feb 2016 Finding Prominent superficial veins Human Phenotype Ontology C1837785 HP:0001015 16 Feb 2016 Finding Prominent superior crus of antihelix Human Phenotype Ontology C4021188 HP:0011247 16 Feb 2016 Finding Prominent supraorbital arches in adult Human Phenotype Ontology C1834993 HP:0004676 16 Feb 2016 Finding Prominent supraorbital ridges Human Phenotype Ontology C1842060 HP:0000336 16 Feb 2016 Finding Prominent tragus Human Phenotype Ontology C4021171 HP:0011271 16 Feb 2016 Finding Prominent U wave Human Phenotype Ontology C1969408 HP:0025072 02 Apr 2017 Finding Prominent umbilicus Human Phenotype Ontology C1837795 HP:0001544 16 Feb 2016 Finding Prominent veins on trunk Human Phenotype Ontology C4024871 HP:0007457 16 Feb 2016 Finding Prominent ventricles and sulci 26 Feb 2020 Finding Prominent xiphoid process Human Phenotype Ontology C4020942 HP:0100893 16 Feb 2016 Finding Pronation-supination of the forearm, impairment of NCBI curation C1867726 176800 16 Feb 2016 Disease Proneural glioblastoma MONDO C3828464 MONDO:0000458 17 Apr 2020 Disease pronounced sensimotor axonal neuropathy CN233198 16 Feb 2016 Finding Proopiomelanocortin deficiency NCBI curation C1857854 609734 16 Feb 2016 Disease Prop tasting NCBI curation 16 Feb 2016 Disease Propafenone response NCBI curation CN078001 16 Feb 2016 Pharmacological response Properdin deficiency 16 Feb 2016 Disease Properdin deficiency, type II NCBI curation C1839455 17 Jul 2016 Disease Properdin deficiency, type III NCBI curation C1839456 17 Jul 2016 Disease Properdin deficiency, X-linked C1839454 312060 16 Feb 2016 Disease Propionic acidemia MONDO C4551877 MONDO:0011628 606054 17 Apr 2020 Disease Propionicacidemia Human Phenotype Ontology CN971693 HP:0003571 16 Feb 2016 Finding Proportionate short stature Human Phenotype Ontology C0878660 HP:0003508 16 Feb 2016 Finding Proportionate short stature; mild intellectual disability; dysmorphic facial features; precocious puberty 16 Feb 2016 Finding Proportionate shortening of all digits Human Phenotype Ontology C1862157 HP:0006165 16 Feb 2016 Finding Proportionate tall stature Human Phenotype Ontology C4023371 HP:0011407 16 Feb 2016 Finding Propranolol response CN078002 16 Feb 2016 Pharmacological response Proprotein convertase 1/3 deficiency NCBI curation C1833053 600955 16 Feb 2016 Disease Proptosis Human Phenotype Ontology C0015300 HP:0000520 16 Feb 2016 Finding Propylthiouracil embryofetopathy MONDO CN258503 MONDO:0044619 17 Apr 2020 Disease Propylthiouracil tasting NCBI curation 16 Feb 2016 Disease Prosencephaly cerebellar dysgenesis 16 Feb 2016 Disease Prosopagnosia Human Phenotype Ontology C0234512 HP:0010528 16 Feb 2016 Finding Prosopagnosia (disease) MONDO MONDO:0003227 17 Apr 2020 Disease Prosopagnosia, hereditary C2931455 610382 16 Feb 2016 Disease Prostaglandin-endoperoxide synthase deficiency NCBI curation C2751535 605735 16 Feb 2016 Disease Prostate adenoid cystic carcinoma MONDO C1335502 MONDO:0003177 17 Apr 2020 Disease Prostate angiosarcoma MONDO C1335504 MONDO:0003033 17 Apr 2020 Disease Prostate calculus MONDO C0149525 MONDO:0001776 17 Apr 2020 Disease Prostate cancer 26 Jul 2018 Finding Prostate cancer aggressiveness quantitative trait locus on chromosome 19 NCBI curation C1843533 607592 16 Feb 2016 Disease Prostate cancer susceptibility NCBI curation C3469524 16 Feb 2016 Disease Prostate cancer, hereditary, 1 NCBI curation C4722327 601518 16 Feb 2016 Disease Prostate cancer, hereditary, 10 NCBI curation C1970192 611100 16 Feb 2016 Disease Prostate cancer, hereditary, 11 NCBI curation C2677773 611955 16 Feb 2016 Disease Prostate cancer, hereditary, 12 NCBI curation C2678479 611868 16 Feb 2016 Disease Prostate cancer, hereditary, 13 NCBI curation C2677821 611928 16 Feb 2016 Disease Prostate cancer, hereditary, 14 NCBI curation C2677772 611958 16 Feb 2016 Disease Prostate cancer, hereditary, 15 NCBI curation C2677771 611959 16 Feb 2016 Disease Prostate cancer, hereditary, 2 NCBI curation C3539120 614731 16 Feb 2016 Disease Prostate cancer, hereditary, 3 NCBI curation C1837595 608656 16 Feb 2016 Disease Prostate cancer, hereditary, 4 NCBI curation C1837593 608658 16 Feb 2016 Disease Prostate cancer, hereditary, 5 NCBI curation C1836436 609299 16 Feb 2016 Disease Prostate cancer, hereditary, 6 NCBI curation C1836005 609558 16 Feb 2016 Disease Prostate cancer, hereditary, 7 NCBI curation C1853195 610321 16 Feb 2016 Disease Prostate cancer, hereditary, 8 NCBI curation C1864472 602759 16 Feb 2016 Disease Prostate cancer, hereditary, 9 NCBI curation C1970250 610997 16 Feb 2016 Disease Prostate cancer, hereditary, X-linked 1 NCBI curation C1846279 300147 16 Feb 2016 Disease Prostate cancer, hereditary, X-linked 2 NCBI curation C2678047 300704 16 Feb 2016 Disease Prostate cancer, somatic NCBI curation C4015779 16 Feb 2016 Disease Prostate cancer, susceptibility to NCBI curation 16 Feb 2016 Disease Prostate cancer/brain cancer susceptibility NCBI curation C1863600 603688 16 Feb 2016 Disease Prostate carcinoma MONDO C0600139 MONDO:0005159 17 Apr 2020 Disease Prostate disease MONDO C0033575 MONDO:0003105 17 Apr 2020 Disease Prostate embryonal rhabdomyosarcoma MONDO C1335508 MONDO:0002574 17 Apr 2020 Disease Prostate intraepithelial neoplasia MONDO C0282612 MONDO:0005193 17 Apr 2020 Disease Prostate leiomyoma MONDO C1335510 MONDO:0002452 17 Apr 2020 Disease Prostate leiomyosarcoma MONDO C1335511 MONDO:0003368 17 Apr 2020 Disease Prostate lymphoma MONDO C1335512 MONDO:0000996 17 Apr 2020 Disease Prostate neoplasm Human Phenotype Ontology C0033578 HP:0100787 06 Jul 2018 Disease Prostate neuroendocrine neoplasm MONDO C1335515 MONDO:0002477 17 Apr 2020 Disease Prostate rhabdomyosarcoma MONDO C1335518 MONDO:0006389 17 Apr 2020 Disease Prostate sarcoma MONDO C0238393 MONDO:0002854 17 Apr 2020 Disease Prostate small cell carcinoma MONDO C1300585 MONDO:0006390 17 Apr 2020 Disease Prostate squamous cell carcinoma MONDO C1302530 MONDO:0000993 17 Apr 2020 Disease Prostate stromal sarcoma MONDO C1335521 MONDO:0004124 17 Apr 2020 Disease Prostatic acinar adenocarcinoma MONDO C1332139 MONDO:0002493 17 Apr 2020 Disease Prostatic adenoma MONDO C0520477 MONDO:0002450 17 Apr 2020 Disease Prostatic cyst MONDO C1443972 MONDO:0001202 17 Apr 2020 Disease Prostatic malacoplakia associated with prostatic abscess C2931457 16 Feb 2016 Disease Prostatic stromal proliferation of uncertain malignant potential 16 Feb 2016 Disease Prostatic urethra urothelial carcinoma MONDO C1514522 MONDO:0003790 17 Apr 2020 Disease Prostatic urethral cancer MONDO C1514523 MONDO:0003791 17 Apr 2020 Disease Prostatitis Human Phenotype Ontology C0033581 HP:0000024 16 Feb 2016 Finding Prostatocystitis MONDO C0156291 MONDO:0001506 17 Apr 2020 Disease Prosthesis-related infectious disease MONDO CN281896 MONDO:0043892 04 Jun 2020 Infectious disease Protan defect NCBI curation C4551767 303900 16 Feb 2016 Disease Protanomaly Human Phenotype Ontology C3887980 HP:0200018 16 Feb 2016 Disease Proteasome-associated autoinflammatory syndrome NCBI curation CN263241 05 Feb 2020 Disease Proteasome-associated autoinflammatory syndrome 1 NCBI curation C4746851 256040 13 Mar 2020 Disease Proteasome-associated autoinflammatory syndrome 1 and digenic forms CN259070 14 Jun 2019 Disease PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC CN252343 19 Jul 2018 Disease PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 OMIM C4747989 618048 618048 19 Jul 2018 Disease PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 OMIM C4747850 617591 617591 19 Jul 2018 Disease Proteasome-associated autoinflammatory syndrome 3 and digenic forms CN259071 14 Jun 2019 Disease PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3, DIGENIC CN252344 19 Jul 2018 Disease Protection against Creutzfeldt-Jakob disease NCBI curation 16 Feb 2016 Disease Protein avoidance Human Phenotype Ontology C1839531 HP:0002038 16 Feb 2016 Finding Protein c deficiency, acquired NCBI curation 16 Feb 2016 Disease Protein R deficiency 16 Feb 2016 Disease Protein S Heerlen NCBI curation 09 Mar 2018 Disease Protein Z deficiency NCBI curation C3151465 614024 16 Feb 2016 Disease Protein-deficiency anemia MONDO C0154290 MONDO:0001638 17 Apr 2020 Disease Protein-energy malnutrition MONDO MONDO:0001371 17 Apr 2020 Disease Protein-losing enteropathy (disease) MONDO C4538570 MONDO:0009174 226300 17 Apr 2020 Disease Proteinuria Human Phenotype Ontology C0033687 HP:0000093 16 Feb 2016 Finding PROTEINURIA, CHRONIC BENIGN OMIM CN280936 618884 618884 20 May 2020 Disease Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis NCBI curation C1839874 308990 16 Feb 2016 Disease Proteolytic capacity of plasma NCBI curation C1867621 176900 16 Feb 2016 Disease Proteus infectious disease MONDO C0033700 MONDO:0006929 04 Jun 2020 Infectious disease Proteus like syndrome mental retardation eye defect 16 Feb 2016 Disease Proteus syndrome NCBI curation C0085261 176920 16 Feb 2016 Disease Proteus-like syndrome NCBI curation C1866398 16 Feb 2016 Disease Prothrombin deficiency, congenital NCBI curation C0020640 613679 16 Feb 2016 Disease PROTHROMBIN TYPE 3 16 Feb 2016 Named protein variant Protocadherin 3 MONDO C1833117 MONDO:0010960 17 Apr 2020 Disease Proton-pump inhibitor-responsive esophageal eosinophilia MONDO CN237451 MONDO:0018468 17 Apr 2020 Disease Protoplasmic astrocytoma MONDO C0334580 MONDO:0016687 17 Apr 2020 Disease Protoporphyria 16 Feb 2016 Disease Protoporphyria, erythropoietic, 1 NCBI curation C4692546 177000 19 Jan 2020 Disease Protoporphyria, erythropoietic, 2 NCBI curation C4693947 618015 19 Jan 2020 Disease Protoporphyria, erythropoietic, X-linked NCBI curation C2677889 300752 16 Feb 2016 Disease Protozoa infectious disease MONDO CN281745 MONDO:0002428 04 Jun 2020 Infectious disease Protozoal dysentery MONDO CN281740 MONDO:0001955 04 Jun 2020 Infectious disease Protozoan infections, animal MONDO C0033741 MONDO:0025114 04 Jun 2020 Infectious disease Protracted diarrhea Human Phenotype Ontology C0473133 HP:0004385 16 Feb 2016 Finding Protriptyline response CN078003 16 Feb 2016 Pharmacological response Protruding coccyx Human Phenotype Ontology C4022489 HP:0040017 16 Feb 2016 Finding Protruding ear Human Phenotype Ontology C1855285 HP:0000411 16 Feb 2016 Finding Protruding nostrils CN235305 20 Feb 2016 Finding Protruding tongue Human Phenotype Ontology C0241442 HP:0010808 16 Feb 2016 Finding Protrusio acetabuli Human Phenotype Ontology C0409495 HP:0003179 177050 16 Feb 2016 Disease Protuberances at ends of long bones Human Phenotype Ontology C1851418 HP:0003105 16 Feb 2016 Finding Protuberant abdomen Human Phenotype Ontology C1854928 HP:0001538 16 Feb 2016 Finding Proximal amyotrophy Human Phenotype Ontology C1850794 HP:0007126 16 Feb 2016 Finding Proximal esophageal atresia Human Phenotype Ontology C4025325 HP:0004403 16 Feb 2016 Finding Proximal femoral focal deficiency Human Phenotype Ontology C0431996 HP:0030772 02 Apr 2017 Finding Proximal femoral metaphyseal abnormality Human Phenotype Ontology C4025047 HP:0006431 16 Feb 2016 Finding Proximal femoral metaphyseal irregularity Human Phenotype Ontology C1836320 HP:0003411 16 Feb 2016 Finding Proximal fibular overgrowth Human Phenotype Ontology C2673395 HP:0005067 16 Feb 2016 Finding Proximal finger joint hyperextensibility Human Phenotype Ontology C4025242 HP:0005190 16 Feb 2016 Finding Proximal foot symphalangism Human Phenotype Ontology C4022185 HP:0100237 02 Apr 2017 Finding Proximal humeral metaphyseal irregularity Human Phenotype Ontology C1865128 HP:0005043 16 Feb 2016 Finding Proximal limb muscle stiffness Human Phenotype Ontology C1861460 HP:0007066 16 Feb 2016 Finding proximal limbs muscles weakness and atrophy 10 Jan 2020 Finding Proximal lower limb amyotrophy Human Phenotype Ontology C1836767 HP:0008956 16 Feb 2016 Finding Proximal muscle weakness Human Phenotype Ontology C0221629 HP:0003701 16 Feb 2016 Finding Proximal muscle weakness in lower limbs Human Phenotype Ontology C1866010 HP:0008994 16 Feb 2016 Finding Proximal muscle weakness in upper limbs Human Phenotype Ontology C1866012 HP:0008997 16 Feb 2016 Finding Proximal myopathy with focal depletion of mitochondria NCBI curation C1833453 600706 16 Feb 2016 Disease Proximal phalangeal periosteal thickening Human Phenotype Ontology C1834348 HP:0006175 16 Feb 2016 Finding Proximal placement of hallux Human Phenotype Ontology C4021110 HP:0011926 16 Feb 2016 Finding Proximal placement of thumb Human Phenotype Ontology C1865572 HP:0009623 16 Feb 2016 Finding Proximal radial head dislocation Human Phenotype Ontology C1865570 HP:0005070 16 Feb 2016 Finding Proximal radio-ulnar synostosis Human Phenotype Ontology C2676443 HP:0005037 16 Feb 2016 Finding Proximal renal tubular acidosis Human Phenotype Ontology C0268435 HP:0002049 179830 16 Feb 2016 Disease Proximal scleroderma Human Phenotype Ontology C4531029 HP:0550003 04 Apr 2018 Finding Proximal spinal muscular atrophy Human Phenotype Ontology C4024957 HP:0006959 16 Feb 2016 Disease Proximal symphalangism (disease) MONDO C1861385 MONDO:0008511 17 Apr 2020 Disease Proximal symphalangism of hands Human Phenotype Ontology C4021607 HP:0006152 02 Apr 2017 Finding Proximal tapering of metacarpals Human Phenotype Ontology C1854749 HP:0006119 16 Feb 2016 Finding Proximal tibial and fibular fusion Human Phenotype Ontology C4025113 HP:0005892 16 Feb 2016 Finding Proximal tibial hypoplasia Human Phenotype Ontology C1856029 HP:0006379 02 Apr 2017 Finding Proximal tubulopathy Human Phenotype Ontology C1839603 HP:0000114 16 Feb 2016 Finding Proximal upper limb amyotrophy Human Phenotype Ontology C1866013 HP:0008948 16 Feb 2016 Finding Proximal upper limb muscle hypertrophy Human Phenotype Ontology C4280686 HP:0040266 02 Apr 2017 Finding proximal weakness 20 Jun 2019 Finding Proximal-type epithelioid sarcoma MONDO C1335563 MONDO:0004244 17 Apr 2020 Disease Proximal/middle symphalangism of 2nd toe Human Phenotype Ontology C4020972 HP:0100489 16 Feb 2016 Finding Proximal/middle symphalangism of 3rd finger Human Phenotype Ontology C4024340 HP:0009482 16 Feb 2016 Finding Proximal/middle symphalangism of 3rd toe Human Phenotype Ontology C4020975 HP:0100480 16 Feb 2016 Finding Proximal/middle symphalangism of 4th finger Human Phenotype Ontology C4024342 HP:0009477 16 Feb 2016 Finding Proximal/middle symphalangism of 4th toe Human Phenotype Ontology C4020974 HP:0100481 16 Feb 2016 Finding Proximal/middle symphalangism of 5th finger Human Phenotype Ontology C1836212 HP:0009177 16 Feb 2016 Finding Proximal/middle symphalangism of 5th toe Human Phenotype Ontology C4020973 HP:0100482 16 Feb 2016 Finding Proximal/middle symphalangism of the 2nd finger Human Phenotype Ontology C4024282 HP:0009579 16 Feb 2016 Finding Proximally placed carpal bones Human Phenotype Ontology C4025399 HP:0004239 16 Feb 2016 Finding Proximally placed lunate Human Phenotype Ontology C4025391 HP:0004250 16 Feb 2016 Finding PrP systemic amyloidosis MONDO C4518776 MONDO:0018339 04 Jun 2020 Infectious disease PRPH2-Related Disorders CN239395 02 Dec 2016 Disease PRPS1 deficiency disorder MONDO MONDO:0100061 17 Apr 2020 Disease Prune belly syndrome C0033770 100100 16 Feb 2016 Disease Prune belly syndrome with pulmonic stenosis, mental retardation and deafness C0403551 264140 16 Feb 2016 Disease Prurigo MONDO C0033771 MONDO:0021739 17 Apr 2020 Disease Prurigo nodularis C0263353 16 Feb 2016 Disease Pruritic urticarial papules and plaques of pregnancy C0269680 178995 16 Feb 2016 Disease Pruritis on abdomen Human Phenotype Ontology C4293681 HP:0030898 02 Apr 2017 Finding Pruritis on breast Human Phenotype Ontology C4293679 HP:0030901 02 Apr 2017 Finding Pruritis on hand Human Phenotype Ontology C4293680 HP:0030899 02 Apr 2017 Finding Pruritus Human Phenotype Ontology C0033774 HP:0000989 16 Feb 2016 Finding Pruritus on foot Human Phenotype Ontology C0239653 HP:0030900 02 Apr 2017 Finding Pruritus, hereditary localized NCBI curation C1867499 177100 16 Feb 2016 Disease PS607594 18 Mar 2020 Finding Psammomatous meningioma MONDO C0334607 MONDO:0004143 17 Apr 2020 Disease Pseudarthrosis of the forearm bones Human Phenotype Ontology C4025474 HP:0003965 16 Feb 2016 Finding Pseudarthrosis of the radius Human Phenotype Ontology C4025466 HP:0003980 16 Feb 2016 Finding Pseudo Pelger-Huet anomaly 16 Feb 2016 Disease Pseudo von Willebrand disease NCBI curation C1280798 177820 16 Feb 2016 Disease Pseudo-fractures Human Phenotype Ontology C4021028 HP:0100036 16 Feb 2016 Finding Pseudo-Hurler polydystrophy C0033788 252600 16 Feb 2016 Disease Pseudo-Meigs syndrome MONDO C5190824 MONDO:0017800 17 Apr 2020 Disease Pseudo-TORCH syndrome OMIM phenotypic series C3489725 PS251290 24 Dec 2019 Disease Pseudo-TORCH syndrome 1 NCBI curation C4552078 251290 24 Dec 2019 Disease Pseudo-TORCH syndrome 2 NCBI curation C4479376 617397 24 Dec 2019 Disease PSEUDO-TORCH SYNDROME 3 OMIM CN280969 618886 618886 28 May 2020 Disease Pseudoachondroplasia, severe NCBI curation 16 Feb 2016 Disease Pseudoachondroplastic dysplasia 2 C2931030 16 Feb 2016 Disease Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome C0410538 177170 16 Feb 2016 Disease Pseudoacromegaly with severe insulin resistance NCBI curation C1865284 602511 16 Feb 2016 Disease Pseudoainhum 16 Feb 2016 Disease Pseudoallergy MONDO C3662273 MONDO:0044981 17 Apr 2020 Disease Pseudoaminopterin syndrome C0795939 600325 16 Feb 2016 Disease Pseudoarthrogryposis NCBI curation C1867485 177300 16 Feb 2016 Disease Pseudoarthrosis Human Phenotype Ontology C0033785 HP:0005864 16 Feb 2016 Finding Pseudoarylsulfatase A deficiency C1855255 16 Feb 2016 Disease Pseudoatrophoderma colli C0406561 177350 16 Feb 2016 Disease Pseudobulbar behavioral symptoms Human Phenotype Ontology C4025720 HP:0002193 16 Feb 2016 Finding Pseudobulbar paralysis Human Phenotype Ontology C0033790 HP:0007024 16 Feb 2016 Finding Pseudobulbar signs Human Phenotype Ontology C1838579 HP:0002200 16 Feb 2016 Finding Pseudocholinesterase, increase in plasma level of NCBI curation C1867466 177600 16 Feb 2016 Disease Pseudocoarctation of the aorta Human Phenotype Ontology C0345088 HP:0005295 16 Feb 2016 Finding Pseudodiastrophic dysplasia C0432206 264180 16 Feb 2016 Disease Pseudoepiphyses Human Phenotype Ontology C1841685 HP:0010584 16 Feb 2016 Finding Pseudoepiphyses of hand bones Human Phenotype Ontology C4025368 HP:0004288 16 Feb 2016 Finding Pseudoepiphyses of second metacarpal Human Phenotype Ontology C1862693 HP:0006179 16 Feb 2016 Finding Pseudoepiphyses of the 2nd finger Human Phenotype Ontology C4021465 HP:0009495 16 Feb 2016 Finding Pseudoepiphyses of the 2nd toe Human Phenotype Ontology C4022370 HP:0100051 16 Feb 2016 Finding Pseudoepiphyses of the 3rd finger Human Phenotype Ontology C4021480 HP:0009417 16 Feb 2016 Finding Pseudoepiphyses of the 3rd toe Human Phenotype Ontology C4022359 HP:0100062 16 Feb 2016 Finding Pseudoepiphyses of the 4th finger Human Phenotype Ontology C4024390 HP:0009400 16 Feb 2016 Finding Pseudoepiphyses of the 4th toe Human Phenotype Ontology C4022348 HP:0100073 16 Feb 2016 Finding Pseudoepiphyses of the 5th finger Human Phenotype Ontology C4024400 HP:0009389 16 Feb 2016 Finding Pseudoepiphyses of the 5th toe Human Phenotype Ontology C4022337 HP:0100084 16 Feb 2016 Finding Pseudoepiphyses of the distal phalanges of the hand Human Phenotype Ontology C4023947 HP:0010253 16 Feb 2016 Finding Pseudoepiphyses of the hallux Human Phenotype Ontology C4024039 HP:0010120 16 Feb 2016 Finding Pseudoepiphyses of the metacarpals Human Phenotype Ontology C1860253 HP:0009193 16 Feb 2016 Finding Pseudoepiphyses of the middle phalanges of the hand Human Phenotype Ontology C4023937 HP:0010264 16 Feb 2016 Finding Pseudoepiphyses of the phalanges of the hand Human Phenotype Ontology C4021306 HP:0010235 16 Feb 2016 Finding Pseudoepiphyses of the proximal phalanges of the hand Human Phenotype Ontology C4023926 HP:0010275 16 Feb 2016 Finding Pseudoepiphyses of the toes Human Phenotype Ontology C4023990 HP:0010169 16 Feb 2016 Finding Pseudoepiphysis of the 1st metacarpal Human Phenotype Ontology C4024101 HP:0010022 16 Feb 2016 Finding Pseudoepiphysis of the 1st metatarsal Human Phenotype Ontology C4024003 HP:0010156 16 Feb 2016 Finding Pseudoepiphysis of the 2nd metacarpal Human Phenotype Ontology C4023963 HP:0010221 16 Feb 2016 Finding Pseudoepiphysis of the 3rd metacarpal Human Phenotype Ontology C4023961 HP:0010223 16 Feb 2016 Finding Pseudoepiphysis of the 4th metacarpal Human Phenotype Ontology C4023959 HP:0010225 16 Feb 2016 Finding Pseudoepiphysis of the 5th metacarpal Human Phenotype Ontology C4023957 HP:0010227 16 Feb 2016 Finding Pseudoepiphysis of the distal phalanx of the 2nd finger Human Phenotype Ontology C4024322 HP:0009509 16 Feb 2016 Finding Pseudoepiphysis of the distal phalanx of the 2nd toe Human Phenotype Ontology C4022314 HP:0100107 16 Feb 2016 Finding Pseudoepiphysis of the distal phalanx of the 3rd finger Human Phenotype Ontology C4024425 HP:0009342 16 Feb 2016 Finding Pseudoepiphysis of the distal phalanx of the 3rd toe Human Phenotype Ontology C4022279 HP:0100142 16 Feb 2016 Finding Pseudoepiphysis of the distal phalanx of the 4th finger Human Phenotype Ontology C4024490 HP:0009257 16 Feb 2016 Finding Pseudoepiphysis of the distal phalanx of the 4th toe Human Phenotype Ontology C4022245 HP:0100176 16 Feb 2016 Finding Pseudoepiphysis of the distal phalanx of the 5th finger Human Phenotype Ontology C4024548 HP:0009188 16 Feb 2016 Finding Pseudoepiphysis of the distal phalanx of the 5th toe Human Phenotype Ontology C4022212 HP:0100209 16 Feb 2016 Finding Pseudoepiphysis of the distal phalanx of the hallux Human Phenotype Ontology C4024014 HP:0010145 16 Feb 2016 Finding Pseudoepiphysis of the distal phalanx of the thumb Human Phenotype Ontology C4024237 HP:0009682 16 Feb 2016 Finding Pseudoepiphysis of the middle phalanx of the 2nd finger Human Phenotype Ontology C4024313 HP:0009520 16 Feb 2016 Finding Pseudoepiphysis of the middle phalanx of the 2nd toe Human Phenotype Ontology C4022303 HP:0100118 16 Feb 2016 Finding Pseudoepiphysis of the middle phalanx of the 3rd finger Human Phenotype Ontology C4021491 HP:0009328 16 Feb 2016 Finding Pseudoepiphysis of the middle phalanx of the 3rd toe Human Phenotype Ontology C4022268 HP:0100153 16 Feb 2016 Finding Pseudoepiphysis of the middle phalanx of the 4th finger Human Phenotype Ontology C4024520 HP:0009221 16 Feb 2016 Finding Pseudoepiphysis of the middle phalanx of the 4th toe Human Phenotype Ontology C4022234 HP:0100187 16 Feb 2016 Finding Pseudoepiphysis of the middle phalanx of the 5th finger Human Phenotype Ontology C4024530 HP:0009210 16 Feb 2016 Finding Pseudoepiphysis of the middle phalanx of the 5th toe Human Phenotype Ontology C4022201 HP:0100220 16 Feb 2016 Finding Pseudoepiphysis of the proximal phalanx of the 2nd finger Human Phenotype Ontology C4024305 HP:0009531 16 Feb 2016 Finding Pseudoepiphysis of the proximal phalanx of the 2nd toe Human Phenotype Ontology C4022292 HP:0100129 16 Feb 2016 Finding Pseudoepiphysis of the proximal phalanx of the 3rd finger Human Phenotype Ontology C4024416 HP:0009353 16 Feb 2016 Finding Pseudoepiphysis of the proximal phalanx of the 3rd toe Human Phenotype Ontology C4022257 HP:0100164 16 Feb 2016 Finding Pseudoepiphysis of the proximal phalanx of the 4th finger Human Phenotype Ontology C4024481 HP:0009268 16 Feb 2016 Finding Pseudoepiphysis of the proximal phalanx of the 4th toe Human Phenotype Ontology C4022223 HP:0100198 16 Feb 2016 Finding Pseudoepiphysis of the proximal phalanx of the 5th finger Human Phenotype Ontology C4024540 HP:0009200 16 Feb 2016 Finding Pseudoepiphysis of the proximal phalanx of the 5th toe Human Phenotype Ontology C4022190 HP:0100231 16 Feb 2016 Finding Pseudoepiphysis of the proximal phalanx of the hallux Human Phenotype Ontology C4024025 HP:0010134 16 Feb 2016 Finding Pseudoepiphysis of the proximal phalanx of the thumb Human Phenotype Ontology C4024246 HP:0009671 16 Feb 2016 Finding Pseudoepiphysis of the thumb Human Phenotype Ontology C3552484 HP:0009693 16 Feb 2016 Finding Pseudoexfoliation Human Phenotype Ontology C4022815 HP:0012627 16 Feb 2016 Finding Pseudoexfoliation glaucoma C0206368 177650 16 Feb 2016 Disease Pseudofolliculitis barbae C0549150 612318 16 Feb 2016 Disease Pseudofolliculitis barbae, susceptibility to NCBI curation 16 Feb 2016 Disease Pseudoglandular squamous cell carcinoma MONDO C0334250 MONDO:0003487 17 Apr 2020 Disease Pseudoglandular variant testicular seminoma MONDO C1515293 MONDO:0004541 17 Apr 2020 Disease Pseudohermaphrodism anorectal anomalies 16 Feb 2016 Disease Pseudohermaphroditism NCBI curation C0033804 16 Feb 2018 Disease Pseudohermaphroditism female skeletal anomalies 16 Feb 2016 Disease Pseudohermaphroditism male with gynecomastia CN073680 16 Feb 2016 Disease Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance NCBI curation C1841973 16 Feb 2016 Disease Pseudohermaphroditism, female, with skeletal anomalies NCBI curation C1849696 264270 16 Feb 2016 Disease Pseudohyperkalemia, familial, 2, due to red cell leak NCBI curation C1836705 609153 16 Feb 2016 Disease Pseudohypoaldosteronism Human Phenotype Ontology C0033805 HP:0008242 16 Feb 2016 Finding Pseudohypoaldosteronism type 1 Orphanet C0268436 ORPHA756 18 Jan 2020 Disease Pseudohypoaldosteronism type 2A NCBI curation C1840389 145260 15 Jan 2020 Disease Pseudohypoaldosteronism type 2B NCBI curation C1840390 614491 16 Feb 2016 Disease Pseudohypoaldosteronism type 2C NCBI curation C1840391 614492 16 Feb 2016 Disease Pseudohypoaldosteronism type 2D NCBI curation C3469605 614495 16 Feb 2016 Disease Pseudohypoaldosteronism type 2E NCBI curation C3469606 614496 16 Feb 2016 Disease Pseudohypoaldosteronism, type 2 C1449844 15 Jan 2020 Disease Pseudohypoparathyroidism Human Phenotype Ontology C3494506 HP:0000852 103580 04 Apr 2018 Disease Pseudohypoparathyroidism type 1B C1864100 603233 16 Feb 2016 Disease Pseudohypoparathyroidism type 1C C2932716 612462 16 Feb 2016 Disease Pseudohypoparathyroidism type II C2932717 203330 16 Feb 2016 Disease Pseudohypoparathyroidism with Albright hereditary osteodystrophy MONDO MONDO:0018699 17 Apr 2020 Disease Pseudohypoparathyroidism without Albright hereditary osteodystrophy MONDO CN262055 MONDO:0018700 17 Apr 2020 Disease PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS C4016140 16 Feb 2016 Disease Pseudoleprechaunism syndrome, Patterson type MONDO C1868546 MONDO:0008211 169170 22 Apr 2020 Disease Pseudolymphoma MONDO C0221269 MONDO:0043959 17 Apr 2020 Disease Pseudomarfanism 16 Feb 2016 Disease Pseudomembranous conjunctivitis MONDO C0155144 MONDO:0001217 04 Jun 2020 Infectious disease Pseudomembranous diphtheritic conjunctivitis MONDO C0012554 MONDO:0020843 04 Jun 2020 Infectious disease Pseudomonas aeruginosa CF5 infection MONDO CN281755 MONDO:0005142 04 Jun 2020 Infectious disease Pseudomonas aeruginosa infectious disease MONDO C0276075 MONDO:0040732 04 Jun 2020 Infectious disease Pseudomonas aeruginosa PA14 infection MONDO CN281756 MONDO:0005143 04 Jun 2020 Infectious disease Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis NCBI curation 16 Feb 2016 Disease Pseudomonas infection MONDO C0033817 MONDO:0005141 04 Jun 2020 Infectious disease Pseudomonas stutzeri infections 16 Feb 2016 Disease Pseudomongolism 16 Feb 2016 Disease Pseudomonilethrix C0432346 177750 16 Feb 2016 Disease Pseudomyotonia 16 Feb 2016 Disease Pseudomyxoma peritonei NCBI curation C0033822 16 Feb 2016 Disease Pseudopapilledema Human Phenotype Ontology C0155300 HP:0000538 177800 16 Feb 2016 Disease Pseudopapilledema blepharophimosis hand anomalies 16 Feb 2016 Disease Pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies NCBI curation C1849661 264475 16 Feb 2016 Disease Pseudopelade of Brocq C0086873 16 Feb 2016 Disease Pseudopili annulati NCBI curation C3150463 613241 16 Feb 2016 Disease Pseudoprogeria syndrome C0796125 200130 16 Feb 2016 Disease Pseudopseudohypoparathyroidism C0033835 612463 16 Feb 2016 Disease Pseudopterygium MONDO C0155161 MONDO:0001178 17 Apr 2020 Disease Pseudorabies MONDO C0033839 MONDO:0005932 04 Jun 2020 Infectious disease Pseudoretinitis pigmentosa MONDO C2053820 MONDO:0001452 17 Apr 2020 Disease pseudostrabismus C0730504 18 Jan 2019 Finding Pseudotyphus of California MONDO C4706680 MONDO:0019364 04 Jun 2020 Infectious disease Pseudounicornuate uterus MONDO C4749300 MONDO:0015833 17 Apr 2020 Disease Pseudouridinuria and mental defect NCBI curation C1849648 264500 16 Feb 2016 Disease Pseudovascular skin squamous cell carcinoma MONDO C1335974 MONDO:0004469 17 Apr 2020 Disease Pseudoxanthoma elasticum C0033847 264800 16 Feb 2016 Disease Pseudoxanthoma elasticum (inherited or acquired) MONDO MONDO:0024308 17 Apr 2020 Disease Pseudoxanthoma elasticum, dominant form 16 Feb 2016 Disease Pseudoxanthoma elasticum, forme fruste C1867450 177850 16 Feb 2016 Disease Pseudoxanthoma elasticum, modifier of severity of NCBI curation C3279392 16 Feb 2016 Disease Pseudoxanthoma elasticum, recessive form 16 Feb 2016 Disease Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency NCBI curation C1835813 610842 16 Feb 2016 Disease Pseudoxanthoma elasticum-like papillary dermal elastolysis MONDO C4049455 MONDO:0016448 17 Apr 2020 Disease Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa MONDO CN237597 MONDO:0018577 17 Apr 2020 Disease Pseudoxanthomatous diffuse cutaneous mastocytosis MONDO CN202761 MONDO:0017244 17 Apr 2020 Disease Psittacosis 16 Feb 2016 Disease PSMNSB OMIM C1847399 606840 606840 17 Apr 2020 Disease PSMNSB MONDO C1847399 MONDO:0011733 606840 17 Apr 2020 Disease Psoriasiform dermatitis NCBI curation C0262985 16 Feb 2016 Disease Psoriasiform lesion Human Phenotype Ontology C4476830 HP:0025526 04 Apr 2018 Finding Psoriasis OMIM phenotypic series C0033860 PS177900 10 Apr 2018 Disease Psoriasis Human Phenotype Ontology C0033860 HP:0003765 10 Apr 2018 Disease Psoriasis 10, susceptibility to NCBI curation C3888028 612410 24 Aug 2016 Disease Psoriasis 11, susceptibility to NCBI curation C2675475 612599 24 Aug 2016 Disease Psoriasis 12, susceptibility to NCBI curation C2751854 612950 24 Aug 2016 Disease Psoriasis 15, pustular, susceptibility to NCBI curation C4015235 616106 16 Feb 2016 Disease Psoriasis 2, pustular NCBI curation C4017074 19 Oct 2018 Disease Psoriasis 3, susceptibility to NCBI curation C1832345 601454 24 Aug 2016 Disease Psoriasis 4, susceptibility to NCBI curation C1858958 603935 24 Aug 2016 Disease Psoriasis 5, susceptibility to NCBI curation C1858536 604316 24 Aug 2016 Disease Psoriasis 6, susceptibility to NCBI curation C1854366 605364 24 Aug 2016 Disease Psoriasis 8, susceptibility to NCBI curation C1853143 610707 24 Aug 2016 Disease Psoriasis 9, susceptibility to NCBI curation C1842897 607857 24 Aug 2016 Disease Psoriasis susceptibility 1 NCBI curation C1867449 177900 16 Feb 2016 Disease Psoriasis susceptibility 13 NCBI curation C3279754 614070 16 Feb 2016 Disease Psoriasis susceptibility 2 NCBI curation C1864497 602723 16 Feb 2016 Disease Psoriasis susceptibility 7 NCBI curation C1854124 605606 16 Feb 2016 Disease Psoriasis, protection against NCBI curation C4017658 16 Feb 2016 Disease Psoriasis-related juvenile idiopathic arthritis MONDO C3714758 MONDO:0019436 17 Apr 2020 Disease Psoriatic arthritis, susceptibility to NCBI curation C1835223 607507 16 Feb 2016 Disease Psychiatric C1548428 16 Feb 2016 Finding Psychiatric _ Allergy/Immunologic/Infectious (child onset) CN232474 16 Feb 2016 Finding Psychiatric _ Craniofacial (child onset) CN232507 16 Feb 2016 Finding Psychiatric _ Metabolic/ Biochemical (child onset) CN232494 16 Feb 2016 Finding Psychiatric _ Musculoskeletal/Structural (child onset) CN232524 16 Feb 2016 Finding Psychiatric _ Neurologic (child onset) CN232528 16 Feb 2016 Finding Psychiatric disorder MONDO MONDO:0002025 17 Apr 2020 Disease Psychiatry CN282570 17 Jun 2020 Pharmacological response Psychic auras Human Phenotype Ontology C4023503 HP:0011162 16 Feb 2016 Finding Psychogenic movement disorders MONDO C3267131 MONDO:0019114 17 Apr 2020 Disease Psychogenic polydipsia MONDO C0395005 MONDO:0040871 17 Apr 2020 Disease Psychologic dyspareunia MONDO C0154466 MONDO:0001196 17 Apr 2020 Disease Psychologic vaginismus MONDO C0042266 MONDO:0000946 17 Apr 2020 Disease Psychomotor deterioration Human Phenotype Ontology C1836842 HP:0002361 16 Feb 2016 Finding Psychomotor retardation NCBI curation C0424230 24 Jul 2019 Finding Psychomotor retardation, epilepsy, and craniofacial dysmorphism NCBI curation C3281055 614501 16 Feb 2016 Disease Psychosexual disorder MONDO C0033953 MONDO:0000947 17 Apr 2020 Disease Psychosis Human Phenotype Ontology C0033975 HP:0000709 16 Feb 2016 Finding Psychosocial short stature MONDO C1455735 MONDO:0021745 17 Apr 2020 Disease Psychotic disorder MONDO MONDO:0005485 17 Apr 2020 Disease Psychotic episodes Human Phenotype Ontology C0338614 HP:0000725 16 Feb 2016 Finding Psychotic mentation Human Phenotype Ontology C4025789 HP:0001345 16 Feb 2016 Finding Ptc tasting NCBI curation 16 Feb 2016 Disease PTEN hamartoma tumor syndrome NCBI curation C1959582 601728 16 Feb 2016 Disease PTEN hamartoma tumor syndrome with granular cell tumor NCBI curation C1866376 16 Feb 2016 Disease PTEN-related disorder 21 Aug 2018 Disease Pterigium Colli 16 Feb 2016 Disease Pterygium Human Phenotype Ontology C0033999 HP:0001059 16 Feb 2016 Finding Pterygium colli, isolated NCBI curation C1867442 177990 16 Feb 2016 Disease Pterygium colli-intellectual disability-digital anomalies syndrome MONDO C1838562 MONDO:0010835 600159 17 Apr 2020 Disease Pterygium of nails Human Phenotype Ontology C0406438 HP:0002165 02 Apr 2017 Finding Pthirus pubis infestation MONDO C0030759 MONDO:0001794 04 Jun 2020 Infectious disease Ptosis Human Phenotype Ontology C0005745 HP:0000508 16 Feb 2016 Finding Ptosis (disease) MONDO MONDO:0000728 17 Apr 2020 Disease Ptosis coloboma mental retardation 16 Feb 2016 Disease ptosis of left eyelid 05 Sep 2019 Finding ptosis palpebral 22 Aug 2019 Finding Ptosis strabismus diastasis 16 Feb 2016 Disease Ptosis strabismus ectopic pupils 16 Feb 2016 Disease Ptosis, hereditary congenital 1 NCBI curation C1867438 178300 16 Feb 2016 Disease Ptosis, hereditary congenital 2 NCBI curation C1846128 300245 16 Feb 2016 Disease Ptosis, strabismus, and ectopic pupils NCBI curation C1867437 178330 16 Feb 2016 Disease Ptosis-syndactyly-learning difficulties syndrome MONDO CN201643 MONDO:0016560 17 Apr 2020 Disease Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome MONDO C4510249 MONDO:0016457 17 Apr 2020 Disease Ptosis-vocal cord paralysis syndrome MONDO C1860403 MONDO:0008665 193240 17 Apr 2020 Disease PTPN11-related disorder 07 Dec 2018 Disease PTPN23-related neurodevelopmental disorder 01 May 2020 Finding PU.1-mutated agammaglobulinemia 03 Jan 2020 Finding Pubertal developmental failure in females Human Phenotype Ontology C4024649 HP:0008647 16 Feb 2016 Finding Puberty and gonadal disorders Human Phenotype Ontology C4024685 HP:0008373 16 Feb 2016 Finding Pubic bone dysplasia NCBI curation C1867436 178350 16 Feb 2016 Disease Pudendal Neuralgia C1997249 16 Feb 2016 Disease Puerperal disorder MONDO C0034040 MONDO:0044013 17 Apr 2020 Disease Puerperal infection MONDO C0034041 MONDO:0021742 04 Jun 2020 Infectious disease Puerperal pulmonary embolism MONDO MONDO:0004594 17 Apr 2020 Disease Puerto rican infant hypotonia syndrome NCBI curation C2931142 600096 16 Feb 2016 Disease Pugilistic facies Human Phenotype Ontology C1846011 HP:0000339 16 Feb 2016 Finding Pulmonar arterioveinous aneurysm 16 Feb 2016 Disease Pulmonary (adult onset) 13 Apr 2018 Finding Pulmonary (child onset) CN232547 16 Feb 2016 Finding Pulmonary adenomatosis, ovine MONDO C0034049 MONDO:0025457 17 Apr 2020 Disease PULMONARY ALVEOLAR MICROLITHIASIS OMIM C0155912 265100 265100 26 May 2016 Disease Pulmonary alveolar proteinosis NCBI curation C0034050 16 Feb 2016 Disease PULMONARY ALVEOLAR PROTEINOSIS WITH HYPOGAMMAGLOBULINEMIA OMIM C4747984 618042 618042 07 Jul 2018 Disease Pulmonary arterial atherosclerosis Human Phenotype Ontology C4531232 HP:0031272 04 Apr 2018 Finding Pulmonary arterial hypertension Human Phenotype Ontology C2973725 HP:0002092 02 Apr 2017 Finding Pulmonary arterial hypertension associated with another disease MONDO CN202577 MONDO:0017150 17 Apr 2020 Disease Pulmonary arterial hypertension associated with chronic hemolytic anemia MONDO C3698315 MONDO:0017156 17 Apr 2020 Disease Pulmonary arterial hypertension associated with congenital heart disease NCBI curation C3697119 14 May 2017 Disease Pulmonary arterial hypertension associated with connective tissue disease MONDO C3697982 MONDO:0017151 17 Apr 2020 Disease Pulmonary arterial hypertension associated with HIV infection MONDO C3697673 MONDO:0017153 17 Apr 2020 Disease Pulmonary arterial hypertension associated with portal hypertension MONDO C1868851 MONDO:0017154 17 Apr 2020 Disease Pulmonary arterial hypertension associated with schistosomiasis MONDO C3697477 MONDO:0017155 17 Apr 2020 Disease Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia NCBI curation C1832529 16 Feb 2016 Disease Pulmonary arterial medial hypertrophy Human Phenotype Ontology C1504382 HP:0004964 16 Feb 2016 Finding Pulmonary arterio-veinous fistula 16 Feb 2016 Disease Pulmonary arteriovenous malformation Human Phenotype Ontology C1857690 HP:0006548 16 Feb 2016 Disease Pulmonary artery agenesis 16 Feb 2016 Disease Pulmonary artery aneurysm Human Phenotype Ontology C0155676 HP:0004937 16 Feb 2016 Finding Pulmonary artery atresia Human Phenotype Ontology C0265908 HP:0004935 16 Feb 2016 Finding Pulmonary artery choriocarcinoma MONDO C1335571 MONDO:0003506 17 Apr 2020 Disease Pulmonary artery coming from patent ductus arteriosus MONDO CN262057 MONDO:0020390 17 Apr 2020 Disease Pulmonary artery coming from the aorta CN271460 16 Feb 2016 Disease Pulmonary artery dilatation Human Phenotype Ontology C0428851 HP:0004927 16 Feb 2016 Finding Pulmonary artery familial dilatation 16 Feb 2016 Disease Pulmonary artery hypoplasia Human Phenotype Ontology C0265910 HP:0004971 16 Feb 2016 Finding Pulmonary artery leiomyosarcoma MONDO C1335572 MONDO:0004207 17 Apr 2020 Disease Pulmonary artery or pulmonary branch anomaly MONDO CN227849 MONDO:0020287 17 Apr 2020 Disease Pulmonary artery sling Human Phenotype Ontology C1856123 HP:0004961 16 Feb 2016 Finding Pulmonary artery stenosis Human Phenotype Ontology C0238397 HP:0004415 16 Feb 2016 Finding Pulmonary artery vasoconstriction Human Phenotype Ontology C1867424 HP:0005308 16 Feb 2016 Finding Pulmonary artery, isolated unilateral absence of (Isolated UAPA) 16 Feb 2016 Disease Pulmonary artery, unilateral absence of (UAPA) 16 Feb 2016 Disease Pulmonary aspergilloma MONDO C2350529 MONDO:0000266 04 Jun 2020 Infectious disease Pulmonary aterial intimal fibrosis Human Phenotype Ontology C4025217 HP:0005312 16 Feb 2016 Finding Pulmonary atresia with intact ventricular septum NCBI curation C0344975 265150 16 Feb 2016 Disease Pulmonary atresia with ventricular septal defect C0344976 178370 16 Feb 2016 Disease Pulmonary blastoma MONDO C0206629 MONDO:0005933 05 Jun 2020 Disease Pulmonary branches stenosis 16 Feb 2016 Disease Pulmonary bulla 14 Oct 2019 Disease Pulmonary bullae causing pneumothorax NCBI curation C1849566 265200 16 Feb 2016 Disease Pulmonary capillary hemangiomatosis Human Phenotype Ontology C0340548 HP:0005954 16 Feb 2016 Finding Pulmonary chondroma Human Phenotype Ontology C3203483 HP:0031474 16 Feb 2016 Finding Pulmonary coin lesion MONDO C0009250 MONDO:0006931 17 Apr 2020 Disease Pulmonary cyst 23 Mar 2020 Finding Pulmonary disease, chronic obstructive, rate of decline of lung function in NCBI curation C2751329 16 Feb 2016 Disease Pulmonary disease, chronic obstructive, susceptibility to NCBI curation C3838076 16 Feb 2016 Disease Pulmonary edema Human Phenotype Ontology C0034063 HP:0100598 16 Feb 2016 Finding Pulmonary embolism (disease) MONDO C0034065 MONDO:0005279 17 Apr 2020 Disease pulmonary embolism and infarction 14 Mar 2019 Finding Pulmonary eosinophilia MONDO C0034068 MONDO:0004802 17 Apr 2020 Disease Pulmonary fibrosis Human Phenotype Ontology C0034069 HP:0002206 16 Feb 2016 Finding Pulmonary fibrosis and/or bone marrow failure, telomere-related OMIM phenotypic series CN262497 PS614742 18 Jun 2017 Disease Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 NCBI curation C3553617 614742 24 Aug 2016 Disease Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 NCBI curation C3553622 614743 24 Aug 2016 Disease Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 NCBI curation C4225346 616373 24 Aug 2016 Disease Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 NCBI curation C4225347 616371 24 Aug 2016 Disease PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5 OMIM C5231457 618674 618674 29 Nov 2019 Disease Pulmonary fibrosis, idiopathic, susceptibility to NCBI curation C4016689 16 Feb 2016 Disease Pulmonary fibrosis-emphysema CN262305 13 Sep 2019 Disease Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome MONDO C4510085 MONDO:0016214 17 Apr 2020 Disease Pulmonary function NCBI curation C3160731 608852 16 Feb 2016 Disease pulmonary function decline 13 Feb 2020 Finding Pulmonary granulomatosis Human Phenotype Ontology C0856628 HP:0030250 16 Feb 2016 Finding Pulmonary hemorrhage Human Phenotype Ontology C0151701 HP:0040223 04 Apr 2018 Finding Pulmonary hypertension owing to lung disease and/or hypoxia MONDO C3698136 MONDO:0017157 17 Apr 2020 Disease Pulmonary hypertension with unclear multifactorial mechanism MONDO CN261555 MONDO:0017158 17 Apr 2020 Disease Pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to NCBI curation C2748504 612862 16 Feb 2016 Disease Pulmonary hypertension, familial primary, 1, with or without HHT CN259072 14 Jun 2019 Disease Pulmonary hypertension, neonatal, susceptibility to NCBI curation C3714958 615371 16 Feb 2016 Disease Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia NCBI curation C3714844 16 Feb 2016 Disease Pulmonary hypertension, primary, autosomal recessive NCBI curation C1849552 265400 16 Feb 2016 Disease Pulmonary hypertension, primary, dexfenfluramine-associated NCBI curation C1969342 16 Feb 2016 Disease Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated CN259073 14 Jun 2019 Disease Pulmonary hypertension, primary, fenfluramine-associated NCBI curation C1969343 16 Feb 2016 Disease Pulmonary hypoplasia Human Phenotype Ontology C0265783 HP:0002089 16 Feb 2016 Finding Pulmonary hypoplasia familial primary 16 Feb 2016 Disease Pulmonary immaturity MONDO MONDO:0002929 17 Apr 2020 Disease Pulmonary infiltrates Human Phenotype Ontology C0235896 HP:0002113 16 Feb 2016 Finding Pulmonary insufficiency Human Phenotype Ontology C0034088 HP:0010444 16 Feb 2016 Finding Pulmonary interstitial high-resolution computed tomography abnormality Human Phenotype Ontology C4476747 HP:0025389 04 Apr 2018 Finding Pulmonary large cell neuroendocrine carcinoma MONDO C1334363 MONDO:0003960 17 Apr 2020 Disease Pulmonary lymphangiectasia Human Phenotype Ontology C1855480 HP:0006521 16 Feb 2016 Finding Pulmonary lymphangiomyomatosis Human Phenotype Ontology C0238399 HP:0012798 16 Feb 2016 Finding Pulmonary lymphoma Human Phenotype Ontology C0519063 HP:0011953 16 Feb 2016 Finding Pulmonary mucoepidermoid carcinoma MONDO C1708778 MONDO:0005616 17 Apr 2020 Disease Pulmonary nodular lymphoid hyperplasia, familial NCBI curation C1867419 178610 16 Feb 2016 Disease Pulmonary non-tuberculous mycobacterial infection MONDO CN267237 MONDO:0018469 04 Jun 2020 Infectious disease Pulmonary opacity Human Phenotype Ontology C4531104 HP:0031457 04 Apr 2018 Finding Pulmonary paraglioma Human Phenotype Ontology C4022004 HP:0100636 16 Feb 2016 Finding Pulmonary plasma cell granuloma MONDO C0085269 MONDO:0006933 17 Apr 2020 Disease Pulmonary pneumatocele Human Phenotype Ontology C1504436 HP:0025419 04 Apr 2018 Finding pulmonary regurgitation 01 Aug 2019 Finding Pulmonary sarcoidosis MONDO C0036205 MONDO:0001708 17 Apr 2020 Disease Pulmonary situs ambiguus Human Phenotype Ontology C4023269 HP:0011617 16 Feb 2016 Finding Pulmonary situs ambiguus with bilateral morphologic left lungs Human Phenotype Ontology C4023267 HP:0011619 16 Feb 2016 Finding Pulmonary situs ambiguus with bilateral morphologic right lungs Human Phenotype Ontology C4023268 HP:0011618 16 Feb 2016 Finding Pulmonary situs inversus Human Phenotype Ontology C4023270 HP:0011616 16 Feb 2016 Finding Pulmonary subvalvular stenosis MONDO MONDO:0006935 17 Apr 2020 Disease Pulmonary sulcus neoplasm MONDO C1335574 MONDO:0024813 17 Apr 2020 Disease Pulmonary surfactant metabolism dysfunction NCBI curation C3711368 06 Feb 2020 Disease Pulmonary Surfactant Metabolism Dysfunction, Dominant CN239333 02 Dec 2016 Disease Pulmonary Surfactant Metabolism Dysfunction, Recessive CN239432 02 Dec 2016 Disease Pulmonary surfactant protein B, deficiency of 16 Feb 2016 Disease Pulmonary tuberculosis MONDO C0041327 MONDO:0006052 04 Jun 2020 Infectious disease Pulmonary type ovarian small cell carcinoma MONDO C1518737 MONDO:0004318 17 Apr 2020 Disease Pulmonary valve agenesis MONDO C0344983 MONDO:0020064 17 Apr 2020 Disease Pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome MONDO C4707896 MONDO:0015103 17 Apr 2020 Disease Pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome MONDO CN207270 MONDO:0020389 17 Apr 2020 Disease Pulmonary valve atresia Human Phenotype Ontology C0242855 HP:0010882 16 Feb 2016 Finding Pulmonary valve defects Human Phenotype Ontology C1860165 HP:0005148 16 Feb 2016 Finding Pulmonary valve disease MONDO C0034087 MONDO:0003628 17 Apr 2020 Disease Pulmonary valve insufficiency MONDO MONDO:0001927 17 Apr 2020 Disease Pulmonary valve stenosis NCBI curation C0034089 16 Feb 2016 Disease Pulmonary valve stenosis (rare) C3279190 16 Feb 2016 Finding Pulmonary valves agenesis 16 Feb 2016 Disease Pulmonary vein leiomyosarcoma MONDO C1335575 MONDO:0004206 17 Apr 2020 Disease Pulmonary veins stenosis 16 Feb 2016 Disease Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis MONDO C3698354 MONDO:0018554 17 Apr 2020 Disease Pulmonary venoocclusive disease OMIM phenotypic series C0034091 PS265450 25 Dec 2019 Disease Pulmonary venoocclusive disease 1 NCBI curation C3806932 24 Mar 2018 Disease Pulmonary venoocclusive disease 1, autosomal dominant NCBI curation C3887658 265450 25 Dec 2019 Disease Pulmonary venoocclusive disease 2, autosomal recessive NCBI curation C0340848 234810 25 Dec 2019 Disease Pulmonary venous hypertension Human Phenotype Ontology C4477098 HP:0030950 02 Apr 2017 Finding Pulmonary venous occlusion Human Phenotype Ontology C4280802 HP:0006518 02 Apr 2017 Finding Pulmonaryatresia intact ventricular septum 16 Feb 2016 Disease Pulmonic stenosis (disease) MONDO C1956257 MONDO:0009938 265500 17 Apr 2020 Disease Pulmonic stenosis and congenital nephrosis C0403552 265600 16 Feb 2016 Disease Pulmonic stenosis and deafness NCBI curation C1867406 178651 16 Feb 2016 Disease Pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities NCBI curation C1867407 178650 16 Feb 2016 Disease Pulmonic valve myxoma Human Phenotype Ontology C4025002 HP:0006691 16 Feb 2016 Finding Pulmonological/Respiratory phenotype CN230746 16 Feb 2016 Finding Pulp degeneration MONDO C0034100 MONDO:0001216 17 Apr 2020 Disease Pulp erosion MONDO MONDO:0001890 17 Apr 2020 Disease Pulpitis MONDO C0034103 MONDO:0006937 04 Jun 2020 Infectious disease Pulsatile tinnitus Human Phenotype Ontology C0751559 HP:0008629 16 Feb 2016 Finding Pulsatile tinnitus (tympanic paraganglioma) C1854340 16 Feb 2016 Finding Pulsating exophthalmos MONDO C0155271 MONDO:0001513 17 Apr 2020 Disease Pulverulent cataract Human Phenotype Ontology CN009519 HP:0010693 02 Apr 2017 Finding Punctate acrokeratoderma freckle-like pigmentation MONDO MONDO:0036918 22 Apr 2020 Disease Punctate cataract Human Phenotype Ontology C0271165 HP:0007648 16 Feb 2016 Finding Punctate corneal dystrophy Human Phenotype Ontology C4024796 HP:0007809 16 Feb 2016 Finding Punctate corneal epithelial erosions Human Phenotype Ontology C1832170 HP:0000584 16 Feb 2016 Finding Punctate inner choroidopathy 16 Feb 2016 Disease Punctate keratitis Human Phenotype Ontology C1562761 HP:0011859 16 Feb 2016 Finding Punctate opacification of the cornea Human Phenotype Ontology C4021565 HP:0007856 16 Feb 2016 Finding Punctate palmar hyperkeratosis Human Phenotype Ontology C4024857 HP:0007508 02 Apr 2017 Finding Punctate palmoplantar hyperkeratosis Human Phenotype Ontology C4024851 HP:0007530 16 Feb 2016 Finding Punctate palmoplantar keratoderma type 2 MONDO C1867982 MONDO:0008292 175860 27 May 2020 Disease Punctate periventricular T2 hyperintense foci Human Phenotype Ontology C4022658 HP:0030081 16 Feb 2016 Finding Punctate vasculitis skin lesions Human Phenotype Ontology C3277693 HP:0200030 16 Feb 2016 Finding Punctate vertebral calcifications Human Phenotype Ontology C4024678 HP:0008420 16 Feb 2016 Finding Punding Human Phenotype Ontology C1963933 HP:0030218 16 Feb 2016 Finding Pupil disease MONDO C0034124 MONDO:0002285 17 Apr 2020 Disease Pupil, egg-shaped MONDO C1867405 MONDO:0008351 178800 22 Apr 2020 Disease Pupillary membrane, persistence of NCBI curation C0271130 178900 16 Feb 2016 Disease PURA Syndrome C4708498 18 Oct 2019 Disease PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation Orphanet CN924912 ORPHA438216 08 Apr 2018 Disease Pure autonomic failure C0393911 16 Feb 2016 Disease Pure gonadal dysgenesis 46,XY NCBI curation C2936694 16 Feb 2016 Disease Pure hereditary spastic paraplegia MONDO C0393555 MONDO:0015149 17 Apr 2020 Disease Pure mitochondrial myopathy MONDO C4517289 MONDO:0016807 17 Apr 2020 Disease Pure myopathy CN224988 16 Feb 2016 Finding Pure or complex autosomal dominant spastic paraplegia MONDO CN229118 MONDO:0017914 17 Apr 2020 Disease Pure or complex autosomal recessive spastic paraplegia NCBI curation CN257792 23 May 2018 Finding Pure or complex hereditary spastic paraplegia MONDO CN227219 MONDO:0017913 17 Apr 2020 Disease Pure or complex X-linked spastic paraplegia MONDO CN229120 MONDO:0017916 17 Apr 2020 Disease Pure red cell aplasia Human Phenotype Ontology C0034902 HP:0012410 16 Feb 2016 Disease Pure-Tone Audiometry 26 Oct 2017 Finding Purely bicuspid aortic valve Human Phenotype Ontology C4476977 HP:0031117 04 Apr 2018 Finding Purine-nucleoside phosphorylase deficiency C0268125 613179 16 Feb 2016 Disease Purple urine Human Phenotype Ontology C4477047 HP:0040322 04 Apr 2018 Finding Purpura Human Phenotype Ontology C0034150 HP:0000979 16 Feb 2016 Finding Purpura fulminans MONDO C0085650 MONDO:0000809 17 Apr 2020 Disease Purpura simplex C0272309 179000 16 Feb 2016 Disease Pursed lips Human Phenotype Ontology C1832130 HP:0000205 16 Feb 2016 Finding Purulent acute otitis media MONDO C0271431 MONDO:0001031 17 Apr 2020 Disease Purulent endophthalmitis MONDO C0259800 MONDO:0004863 04 Jun 2020 Infectious disease Purulent labyrinthitis MONDO C0155506 MONDO:0001739 17 Apr 2020 Disease Pustular psoriasis MONDO C0152081 MONDO:0022205 17 Apr 2020 Disease Pustular psoriasis, generalized NCBI curation C0343055 614204 16 Feb 2016 Disease Pustule Human Phenotype Ontology C0241157 HP:0200039 16 Feb 2016 Finding pyelectasia C0341676 22 Aug 2019 Finding pyelectasis 10 Jun 2020 Finding Pyelitis MONDO C0034183 MONDO:0006938 17 Apr 2020 Disease Pyelocystitis MONDO C0034184 MONDO:0021746 17 Apr 2020 Disease Pyelonephritis Human Phenotype Ontology C0034186 HP:0012330 16 Feb 2016 Infectious disease Pyeloureteritis cystica MONDO C0156254 MONDO:0002410 17 Apr 2020 Disease Pygmy NCBI curation C1849524 265850 16 Feb 2016 Disease Pyknoachondrogenesis C1849523 265880 16 Feb 2016 Disease Pyknodysostosis C0238402 265800 16 Feb 2016 Disease Pyknotic bone marrow neutrophils Human Phenotype Ontology C4476916 HP:0031019 04 Apr 2018 Finding Pyle metaphyseal dysplasia C0265294 265900 16 Feb 2016 Disease Pyloric antrum cancer MONDO C0153419 MONDO:0001062 17 Apr 2020 Disease Pyloric atresia C0266159 265950 16 Feb 2016 Disease Pyloric gland adenoma MONDO C1709780 MONDO:0006391 17 Apr 2020 Disease pyloric steis 05 Sep 2019 Finding Pyloric stenosis Human Phenotype Ontology C0034194 HP:0002021 16 Feb 2016 Finding Pyloric stenosis (disease) MONDO MONDO:0001561 17 Apr 2020 Disease Pyloric stenosis, infantile hypertrophic 1 NCBI curation C1867403 179010 16 Feb 2016 Disease Pyloric stenosis, infantile hypertrophic, 2 NCBI curation C1853228 610260 16 Feb 2016 Disease Pyloric stenosis, infantile hypertrophic, 3 NCBI curation C2677588 612017 16 Feb 2016 Disease Pyloric stenosis, infantile hypertrophic, 4 NCBI curation C2678037 300711 16 Feb 2016 Disease Pyloric stenosis, infantile hypertrophic, 5 NCBI curation C2675862 612525 16 Feb 2016 Disease Pylorospasm MONDO C0152163 MONDO:0001428 17 Apr 2020 Disease Pylorus cancer MONDO C0153418 MONDO:0001061 17 Apr 2020 Disease Pyoderma Human Phenotype Ontology C0034212 HP:0000999 16 Feb 2016 Finding Pyoderma gangrenosum Human Phenotype Ontology C0085652 HP:0025452 04 Apr 2018 Disease Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome MONDO C5191642 MONDO:0017332 17 Apr 2020 Disease Pyogenic arthritis-pyoderma gangrenosum-acne syndrome MONDO C1858361 MONDO:0011462 604416 17 Apr 2020 Disease Pyogenic autoinflammatory syndrome MONDO CN204100 MONDO:0017954 17 Apr 2020 Disease Pyogenic granuloma MONDO C0085653 MONDO:0022096 17 Apr 2020 Disease Pyometritis MONDO C0034215 MONDO:0000497 17 Apr 2020 Disease Pyomyositis C0041188 16 Feb 2016 Infectious disease Pyonephrosis MONDO C0034216 MONDO:0021750 17 Apr 2020 Disease Pyosalpinx MONDO C0034220 MONDO:0003618 17 Apr 2020 Disease Pyoureter MONDO C0034223 MONDO:0001922 04 Jun 2020 Infectious disease Pyramidal skinfold extending from the base to the top of the nails Human Phenotype Ontology C4024212 HP:0009758 16 Feb 2016 Finding Pyrazinamide response CN078008 16 Feb 2016 Pharmacological response Pyridoxal phosphate-responsive seizures MONDO C1864723 MONDO:0012407 610090 17 Apr 2020 Disease Pyridoxine deficiency 16 Feb 2016 Disease Pyridoxine deficiency anemia MONDO MONDO:0004574 17 Apr 2020 Disease Pyridoxine-dependent epilepsy C1849508 266100 16 Feb 2016 Disease Pyridoxine-responsive sideroblastic anemia Human Phenotype Ontology C0272027 HP:0005522 16 Feb 2016 Disease Pyriform aperture stenosis Human Phenotype Ontology C3839990 HP:0025011 02 Apr 2017 Finding Pyriform sinus cancer MONDO C0153400 MONDO:0004733 17 Apr 2020 Disease Pyrimidine analogues response - Toxicity/ADR PharmGKB CN236468 1183630664 18 May 2016 Pharmacological response Pyrimidine analogues response - Toxicity/ADR, Metabolism/PK PharmGKB CN240586 827843617 17 Feb 2017 Pharmacological response Pyrimidine-responsive megaloblastic anemia Human Phenotype Ontology C4021731 HP:0003339 16 Feb 2016 Finding Pyromania MONDO MONDO:0001522 17 Apr 2020 Disease Pyropoikilocytosis NCBI curation 16 Feb 2016 Disease Pyrosis 16 Feb 2016 Disease Pyruvate carboxylase deficiency C0034341 266150 16 Feb 2016 Disease Pyruvate carboxylase deficiency, benign type MONDO CN204540 MONDO:0018143 17 Apr 2020 Disease Pyruvate carboxylase deficiency, infantile form MONDO CN204538 MONDO:0018141 17 Apr 2020 Disease Pyruvate carboxylase deficiency, severe neonatal type MONDO CN204539 MONDO:0018142 17 Apr 2020 Disease Pyruvate dehydrogenase complex deficiency OMIM phenotypic series C0034345 PS312170 16 Feb 2016 Disease Pyruvate dehydrogenase E1-alpha deficiency NCBI curation C1839413 312170 16 Feb 2016 Disease Pyruvate dehydrogenase E1-beta deficiency NCBI curation C3279841 614111 16 Feb 2016 Disease Pyruvate dehydrogenase E2 deficiency NCBI curation C1855565 245348 16 Feb 2016 Disease Pyruvate dehydrogenase E3-binding protein deficiency NCBI curation C1855553 245349 16 Feb 2016 Disease Pyruvate dehydrogenase lipoic acid synthetase deficiency NCBI curation C3280887 614462 16 Feb 2016 Disease Pyruvate dehydrogenase phosphatase deficiency C1837429 608782 16 Feb 2016 Disease Pyruvate kinase deficiency of red cells NCBI curation C0340968 266200 16 Feb 2016 Disease Pyruvate kinase deficiency, liver type CN073714 16 Feb 2016 Disease Pyruvate kinase deficiency, muscle type CN073715 16 Feb 2016 Disease Pyruvate metabolism disorder MONDO CN226999 MONDO:0016789 17 Apr 2020 Disease Pythiosis MONDO C0276912 MONDO:0025510 17 Apr 2020 Disease Pyuria Human Phenotype Ontology C0034359 HP:0012085 16 Feb 2016 Finding Pyuria (disease) MONDO MONDO:0001953 17 Apr 2020 Disease Q fever C0034362 16 Feb 2016 Infectious disease Qazi Markouizos syndrome 16 Feb 2016 Disease QT interval, variation in NCBI curation C1857828 610141 16 Feb 2016 Disease Quadriceps aplasia Human Phenotype Ontology C3805765 HP:0009788 16 Feb 2016 Finding Quadriceps muscle atrophy Human Phenotype Ontology C4024603 HP:0009050 16 Feb 2016 Finding Quadriceps muscle weakness Human Phenotype Ontology C0577655 HP:0003731 16 Feb 2016 Finding quadriplegic cerebral palsy 05 Sep 2019 Finding Qualitative or quantitative defects of alpha-actin MONDO CN226870 MONDO:0016193 17 Apr 2020 Disease Qualitative or quantitative defects of alpha-sarcoglycan MONDO CN226840 MONDO:0016141 17 Apr 2020 Disease Qualitative or quantitative defects of alphaB-cristallin MONDO CN226865 MONDO:0016188 17 Apr 2020 Disease Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) MONDO CN226872 MONDO:0016195 17 Apr 2020 Disease Qualitative or quantitative defects of beta-sarcoglycan MONDO C2930900 MONDO:0016142 17 Apr 2020 Disease Qualitative or quantitative defects of calpain MONDO CN226851 MONDO:0016152 17 Apr 2020 Disease Qualitative or quantitative defects of collagen 6 CN279278 27 Aug 2019 Disease Qualitative or quantitative defects of delta-sarcoglycan MONDO CN072428 MONDO:0016144 17 Apr 2020 Disease Qualitative or quantitative defects of desmin MONDO CN226864 MONDO:0016187 17 Apr 2020 Disease Qualitative or quantitative defects of dysferlin MONDO C2931687 MONDO:0016145 17 Apr 2020 Disease Qualitative or quantitative defects of emerin MONDO CN226873 MONDO:0016196 17 Apr 2020 Disease Qualitative or quantitative defects of filamin C MONDO CN226866 MONDO:0016189 17 Apr 2020 Disease Qualitative or quantitative defects of FKRP MONDO CN226855 MONDO:0016156 17 Apr 2020 Disease Qualitative or quantitative defects of fukutin MONDO CN226856 MONDO:0016157 17 Apr 2020 Disease Qualitative or quantitative defects of gamma-sarcoglycan MONDO CN226842 MONDO:0016143 17 Apr 2020 Disease Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - MONDO CN226877 MONDO:0016200 17 Apr 2020 Disease Qualitative or quantitative defects of integrin alpha-7 MONDO CN226849 MONDO:0016150 17 Apr 2020 Disease Qualitative or quantitative defects of merosin MONDO CN226848 MONDO:0016149 17 Apr 2020 Disease Qualitative or quantitative defects of myofibrillar proteins MONDO CN226863 MONDO:0016186 17 Apr 2020 Disease Qualitative or quantitative defects of myotilin MONDO CN226878 MONDO:0016201 17 Apr 2020 Disease Qualitative or quantitative defects of myotubularin MONDO CN226853 MONDO:0016154 17 Apr 2020 Disease Qualitative or quantitative defects of nebulin MONDO CN226871 MONDO:0016194 17 Apr 2020 Disease Qualitative or quantitative defects of perlecan MONDO CN226850 MONDO:0016151 17 Apr 2020 Disease Qualitative or quantitative defects of plectin MONDO CN226875 MONDO:0016198 17 Apr 2020 Disease Qualitative or quantitative defects of protein glycosyltransferase-like MONDO CN226860 MONDO:0016183 17 Apr 2020 Disease Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan MONDO CN226854 MONDO:0016155 17 Apr 2020 Disease Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase MONDO CN226859 MONDO:0016182 17 Apr 2020 Disease Qualitative or quantitative defects of protein O-mannosyltransferase 1 MONDO CN226861 MONDO:0016184 17 Apr 2020 Disease Qualitative or quantitative defects of protein O-mannosyltransferase 2 MONDO CN226862 MONDO:0016185 17 Apr 2020 Disease Qualitative or quantitative defects of protein SERCA1 MONDO CN226876 MONDO:0016199 17 Apr 2020 Disease Qualitative or quantitative defects of protein ZASP MONDO CN226867 MONDO:0016190 17 Apr 2020 Disease Qualitative or quantitative defects of selenoprotein N1 MONDO CN226874 MONDO:0016197 17 Apr 2020 Disease Qualitative or quantitative defects of telethonin MONDO CN226869 MONDO:0016192 17 Apr 2020 Disease Qualitative or quantitative defects of titin MONDO CN226868 MONDO:0016191 17 Apr 2020 Disease Qualitative or quantitative defects of Torsin-1A-interacting protein 1 MONDO CN237534 MONDO:0018529 17 Apr 2020 Disease Qualitative or quantitative defects of TRIM32 MONDO CN226852 MONDO:0016153 17 Apr 2020 Disease Qualitative or quantitative defects of tropomyosin MONDO CN227110 MONDO:0017303 17 Apr 2020 Disease Qualitative or quantitative defects of troponin MONDO CN227109 MONDO:0017302 17 Apr 2020 Disease Qualitative or quantitative protein defects in neuromuscular diseases MONDO CN200901 MONDO:0016139 17 Apr 2020 Disease Qualitative platelet defect MONDO C0235604 MONDO:0001197 17 Apr 2020 Disease Quantitative and/or qualitative congenital phagocyte defect MONDO CN237419 MONDO:0015133 17 Apr 2020 Disease Quebec platelet disorder C1866423 601709 16 Feb 2016 Disease Queensland tick typhus MONDO C2979888 MONDO:0001118 04 Jun 2020 Infectious disease Quelprud Nodule Human Phenotype Ontology C4022673 HP:0030023 16 Feb 2016 Finding Question mark ear Human Phenotype Ontology C3888103 HP:0030022 16 Feb 2016 Finding Question mark ears, isolated NCBI curation C2748545 612798 16 Feb 2016 Disease quetiapine response - Toxicity/ADR PharmGKB CN236616 1446898992 18 May 2016 Pharmacological response Quinidine response CN077976 16 Feb 2016 Pharmacological response Quinquaud's folliculitis decalvans MONDO CN269877 MONDO:0018103 22 Apr 2020 Disease R binder deficiency with lactoferrin deficiency NCBI curation 16 Feb 2016 Disease RAB3GAP2-Related Disorders 23 May 2019 Disease Rabeprazole response CN078004 16 Feb 2016 Pharmacological response Rabies C0034494 16 Feb 2016 Infectious disease Rachitic rosary Human Phenotype Ontology C4551565 HP:0000897 16 Feb 2016 Finding RAD51C-Related Disorders 23 May 2019 Disease radial anomalies 18 Jan 2019 Finding Radial aplasia-thrombocytopenia syndrome NCBI curation C0175703 274000 16 Feb 2016 Disease Radial bowing Human Phenotype Ontology C1859399 HP:0002986 16 Feb 2016 Finding Radial club hand Human Phenotype Ontology C4025414 HP:0004059 16 Feb 2016 Finding Radial defect Robin sequence C2931143 16 Feb 2016 Disease Radial deficiency-tibial hypoplasia syndrome MONDO C5190823 MONDO:0015232 17 Apr 2020 Disease Radial deviation of finger Human Phenotype Ontology C1836189 HP:0009466 16 Feb 2016 Finding Radial deviation of the 2nd finger Human Phenotype Ontology C1844709 HP:0009467 16 Feb 2016 Finding Radial deviation of the 3rd finger Human Phenotype Ontology C4024345 HP:0009462 16 Feb 2016 Finding Radial deviation of the 4th finger Human Phenotype Ontology C4024473 HP:0009279 16 Feb 2016 Finding Radial deviation of the 5th finger Human Phenotype Ontology C4022487 HP:0040020 16 Feb 2016 Finding Radial deviation of the hand Human Phenotype Ontology C0575803 HP:0009486 16 Feb 2016 Finding Radial deviation of the hand or of fingers of the hand Human Phenotype Ontology C4024337 HP:0009485 16 Feb 2016 Finding Radial deviation of the thumb Human Phenotype Ontology C2168996 HP:0040021 16 Feb 2016 Finding Radial deviation of thumb terminal phalanx Human Phenotype Ontology C4025111 HP:0005895 16 Feb 2016 Finding Radial head subluxation Human Phenotype Ontology C0149977 HP:0003048 16 Feb 2016 Finding Radial heads, posterior dislocation of MONDO C1867398 MONDO:0008356 179200 17 Apr 2020 Disease Radial hemimelia MONDO CN206567 MONDO:0019671 17 Apr 2020 Disease Radial hemimelia, bilateral MONDO MONDO:0017487 17 Apr 2020 Disease Radial hemimelia, unilateral MONDO MONDO:0017486 17 Apr 2020 Disease Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome MONDO C1867397 MONDO:0008357 179250 17 Apr 2020 Disease Radial loop, plain, on right index finger NCBI curation C1839409 312200 16 Feb 2016 Disease Radial metaphyseal irregularity Human Phenotype Ontology C4021692 HP:0004019 16 Feb 2016 Finding Radial nerve lesion MONDO C0154744 MONDO:0006940 17 Apr 2020 Disease Radial neuropathy MONDO C0748226 MONDO:0001459 17 Apr 2020 Disease Radial ray agenesis 16 Feb 2016 Disease Radial ray deficiency, X-linked NCBI curation C1845717 300378 16 Feb 2016 Disease Radial-renal syndrome NCBI curation C1867396 179280 16 Feb 2016 Disease Radially deviated wrists Human Phenotype Ontology C1861316 HP:0006190 16 Feb 2016 Finding Radiation cystitis MONDO C0156270 MONDO:0004112 17 Apr 2020 Disease Radiation induced angiosarcoma of the breast 16 Feb 2016 Disease Radiation induced brachial plexopathy 16 Feb 2016 Disease Radiation induced cancer 16 Feb 2016 Disease Radiation injury MONDO C0034535 MONDO:0043458 17 Apr 2020 Disease Radiation myelitis MONDO C4706614 MONDO:0019529 17 Apr 2020 Disease Radiation or chemically induced disorder MONDO MONDO:0045028 17 Apr 2020 Disease Radiation pneumonitis MONDO MONDO:0043919 17 Apr 2020 Disease Radiation proctitis MONDO C0400827 MONDO:0019084 17 Apr 2020 Disease Radiation sensitivity of natural killer activity NCBI curation C1839408 312210 16 Feb 2016 Disease Radiation sensitivity/chromosome instability syndrome, autosomal dominant NCBI curation C1854244 605463 16 Feb 2016 Disease Radiation-induced disorder MONDO C1527225 MONDO:0043459 17 Apr 2020 Disease Radiation-induced meningioma MONDO C1853554 MONDO:0011648 606190 22 Apr 2020 Disease Radiation-induced plexopathy MONDO CN258588 MONDO:0033838 17 Apr 2020 Disease Radiculitis MONDO C0034544 MONDO:0021765 17 Apr 2020 Disease Radiculoneuropathy, fatal neonatal NCBI curation C1849471 266250 16 Feb 2016 Disease Radiculopathy MONDO C0700594 MONDO:0002959 17 Apr 2020 Disease Radin blood group NCBI curation C1862204 111620 16 Feb 2016 Blood group Radio renal syndrome 16 Feb 2016 Disease Radio-digito-facial dysplasia MONDO MONDO:0024171 22 Apr 2020 Disease Radio-ulnar synostosis type 1 16 Feb 2016 Disease Radio-ulnar synostosis type 2 16 Feb 2016 Disease Radio-ulnar synostosis, bilateral MONDO CN203291 MONDO:0017555 17 Apr 2020 Disease Radio-ulnar synostosis, unilateral MONDO CN203290 MONDO:0017554 17 Apr 2020 Disease Radiodermatitis MONDO MONDO:0043771 17 Apr 2020 Disease Radiohumeral fusions with other skeletal and craniofacial anomalies NCBI curation C3280729 614416 16 Feb 2016 Disease radiotherapy response - Efficacy PharmGKB 1446897383PA166122986 06 Jul 2018 Pharmacological response radiotherapy response - Toxicity/ADR PharmGKB CN236617 1184514217 18 May 2016 Pharmacological response Radioulnar dislocation Human Phenotype Ontology C2673394 HP:0006439 16 Feb 2016 Finding Radioulnar synostosis Human Phenotype Ontology C0158761 HP:0002974 179300 16 Feb 2016 Disease Radioulnar synostosis retinal pigment abnormalities 16 Feb 2016 Disease Radioulnar synostosis with amegakaryocytic thrombocytopenia OMIM phenotypic series C1854273 PS605432 09 Jan 2020 Disease Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 NCBI curation C4551975 605432 09 Jan 2020 Disease Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 NCBI curation C4225221 616738 16 Feb 2016 Disease Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male NCBI curation C1846147 300233 16 Feb 2016 Disease Radioulnar synostosis, unilateral, with developmental retardation and hypotonia NCBI curation C1849470 266255 16 Feb 2016 Disease Radioulnar synostosis-microcephaly-scoliosis syndrome MONDO C1863881 MONDO:0011320 603438 17 Apr 2020 Disease Radius fracture MONDO MONDO:0005325 17 Apr 2020 Disease Radius, aplasia of, with cleft lip/palate NCBI curation C1867395 179400 16 Feb 2016 Disease RAG1-Related Disorders 23 May 2019 Disease Ragged cuticle Human Phenotype Ontology C4280756 HP:0030808 02 Apr 2017 Finding Ragged-red muscle fibers Human Phenotype Ontology C3275417 HP:0003200 16 Feb 2016 Finding Ragweed sensitivity NCBI curation C1867394 179450 16 Feb 2016 Disease RAHMAN SYNDROME OMIM C4479637 617537 617537 29 Jun 2017 Disease Rainbow trout allergy MONDO MONDO:0000793 17 Apr 2020 Disease Raindrop hypopigmentation NCBI curation C1867393 179500 16 Feb 2016 Disease Rajab interstitial lung disease with brain calcifications NCBI curation C3150910 613658 06 Jan 2020 Disease Rales Human Phenotype Ontology C0034642 HP:0030830 02 Apr 2017 Finding Raltegravir Response CN282571 17 Jun 2020 Pharmacological response Ramer Ladda syndrome 16 Feb 2016 Disease Ramon Syndrome C0796133 266270 16 Feb 2016 Disease Ramos Arroyo Clark syndrome 16 Feb 2016 Disease Ranula Human Phenotype Ontology C2242813 HP:0030706 02 Apr 2017 Finding Rapadilino syndrome C1849453 266280 16 Feb 2016 Disease RAPH BLOOD GROUP SYSTEM OMIM C1867341 179620 179620 16 Feb 2016 Blood group Rapid eye movement sleep disorder MONDO MONDO:0024363 17 Apr 2020 Disease Rapid neurologic deterioration Human Phenotype Ontology C4024908 HP:0007307 16 Feb 2016 Finding Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome MONDO C4053506 MONDO:0017408 17 Apr 2020 Disease Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation 16 Feb 2016 Disease Rapidly involuting congenital hemangioma MONDO C1275421 MONDO:0015404 17 Apr 2020 Disease Rapidly progressive glomerulonephritis MONDO C0221239 MONDO:0017236 17 Apr 2020 Disease Rapp-Hodgkin ectodermal dysplasia syndrome NCBI curation C1785148 129400 16 Feb 2016 Disease RAPSN-Related Disorders CN239397 02 Dec 2016 Disease Rare MONDO MONDO:0021136 17 Apr 2020 Disease Rare adult hypothyroidism MONDO CN226738 MONDO:0015777 17 Apr 2020 Disease Rare bone disease related to a common gene or pathway defect MONDO CN204768 MONDO:0018238 17 Apr 2020 Disease Rare breast malformation MONDO C0266008 MONDO:0015851 17 Apr 2020 Disease Rare bronchopulmonary tumor MONDO CN197476 MONDO:0015119 17 Apr 2020 Disease Rare capillary malformation with associated anomalies MONDO CN242066 MONDO:0018719 17 Apr 2020 Disease Rare cause of hypertension MONDO CN227685 MONDO:0019748 17 Apr 2020 Disease Rare combined vascular malformation MONDO CN242069 MONDO:0018721 17 Apr 2020 Disease Rare constitutional hemolytic anemia due to an enzyme disorder MONDO CN227782 MONDO:0020104 17 Apr 2020 Disease Rare cutaneous lichen planus MONDO CN226995 MONDO:0016767 17 Apr 2020 Disease Rare developmental defect with connective tissue involvement MONDO CN199362 MONDO:0015332 17 Apr 2020 Disease Rare disease with autism MONDO CN200486 MONDO:0015878 17 Apr 2020 Disease Rare disease with dentinogenesis imperfecta MONDO CN270938 MONDO:0015669 07 Jun 2020 Disease Rare disease with glaucoma as a major feature MONDO CN207054 MONDO:0020222 17 Apr 2020 Disease Rare disease with malignant hyperthermia MONDO CN242072 MONDO:0018753 17 Apr 2020 Disease Rare disease with myoclonus as a major feature MONDO CN203543 MONDO:0017652 17 Apr 2020 Disease Rare disease with odontological manifestation MONDO CN206947 MONDO:0020014 17 Apr 2020 Disease Rare disease with thoracic aortic aneurysm and aortic dissection MONDO CN202889 MONDO:0017311 17 Apr 2020 Disease Rare disorder with dystonia and other neurologic or systemic manifestation MONDO CN227296 MONDO:0018265 17 Apr 2020 Disease Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism Orphanet CN227345 ORPHA399846 03 Jun 2020 Disease Rare disorder with ptosis MONDO CN207031 MONDO:0020169 17 Apr 2020 Disease Rare endocrine growth disease MONDO CN206437 MONDO:0019590 17 Apr 2020 Disease Rare epidermal disease MONDO CN205920 MONDO:0019268 17 Apr 2020 Disease Rare epilepsy Orphanet CN244924 ORPHA101998 13 May 2018 Disease Rare epithelial tumor of liver and intrahepatic biliary tract MONDO CN237535 MONDO:0018530 17 Apr 2020 Disease Rare epithelial tumor of pancreas MONDO CN237523 MONDO:0018520 17 Apr 2020 Disease Rare epithelial tumor of small intestine MONDO CN237541 MONDO:0018539 17 Apr 2020 Disease Rare epithelial tumor of stomach Orphanet CN235187 ORPHA63443 16 Feb 2016 Disease Rare eye disease due to a differentiation anomaly MONDO MONDO:0020149 17 Apr 2020 Disease Rare eyebrow/eyelashes anomaly MONDO CN227808 MONDO:0020184 17 Apr 2020 Disease Rare eyelid malformation MONDO CN227799 MONDO:0020152 17 Apr 2020 Disease Rare female infertility due to adrenal disorder of genetic origin MONDO CN227355 MONDO:0018412 17 Apr 2020 Disease Rare female infertility due to an adrenal disorder MONDO CN227346 MONDO:0018400 17 Apr 2020 Disease Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin MONDO CN227354 MONDO:0018411 17 Apr 2020 Disease Rare form of salmonellosis MONDO CN265041 MONDO:0019331 04 Jun 2020 Infectious disease Rare gastroesophageal tumor MONDO CN200488 MONDO:0015881 17 Apr 2020 Disease Rare genetic bone development disorder MONDO CN227376 MONDO:0018457 17 Apr 2020 Disease Rare genetic deafness Orphanet CN826980 ORPHA96210 26 Feb 2018 Disease Rare genetic disease with myoclonus as a major feature MONDO CN203550 MONDO:0017665 17 Apr 2020 Disease Rare genetic disorder with obstructive azoospermia MONDO CN227352 MONDO:0018409 17 Apr 2020 Disease Rare genetic epilepsy CN262434 15 Oct 2019 Disease Rare genetic hypothalamic or pituitary disease MONDO CN200567 MONDO:0015968 17 Apr 2020 Disease Rare genetic odontal or periodontal disorder MONDO CN237489 MONDO:0018488 17 Apr 2020 Disease Rare genetic palpebral, lacrimal system and conjunctival disease MONDO MONDO:0015964 17 Apr 2020 Disease Rare genetic parathyroid disease and phosphocalcic metabolism disorder MONDO CN200569 MONDO:0015970 17 Apr 2020 Disease Rare genetic refraction anomaly MONDO MONDO:0015965 17 Apr 2020 Disease Rare genetic renal disease CN262429 15 Oct 2019 Disease Rare genetic vascular tumor MONDO CN242080 MONDO:0018729 17 Apr 2020 Disease Rare genetic venous malformation NCBI curation CN241790 06 Apr 2017 Disease Rare gynecologic or obstetric disease MONDO CN206853 MONDO:0019937 17 Apr 2020 Disease Rare head and neck malformation MONDO CN226686 MONDO:0015475 17 Apr 2020 Disease Rare hematologic disease MONDO CN206939 MONDO:0020006 17 Apr 2020 Disease Rare hemorrhagic disorder due to a constitutional coagulation factors defect MONDO CN227563 MONDO:0019039 17 Apr 2020 Disease Rare hereditary disease with avascular necrosis MONDO CN205038 MONDO:0018377 17 Apr 2020 Disease Rare hereditary disease with peripheral neuropathy MONDO C0392553 MONDO:0016132 17 Apr 2020 Disease Rare hereditary metabolic disease with peripheral neuropathy MONDO CN200897 MONDO:0016133 17 Apr 2020 Disease Rare hereditary neurologic disease with peripheral neuropathy MONDO CN200899 MONDO:0016135 17 Apr 2020 Disease Rare hereditary systemic disease with peripheral neuropathy MONDO CN200898 MONDO:0016134 17 Apr 2020 Disease Rare hyperkinetic movement disorder MONDO CN258515 MONDO:0044636 17 Apr 2020 Disease Rare hyperopia and astigmatism MONDO CN227819 MONDO:0020209 17 Apr 2020 Disease Rare hypothalamic or pituitary disease MONDO CN200503 MONDO:0015889 17 Apr 2020 Disease Rare idiopathic macular telangiectasia MONDO CN776863 MONDO:0018833 17 Apr 2020 Disease Rare idiopathic male infertility MONDO CN227777 MONDO:0020092 17 Apr 2020 Disease Rare inflammatory eye disease MONDO MONDO:0015937 17 Apr 2020 Disease Rare insulin-resistance syndrome MONDO C3714619 MONDO:0015885 17 Apr 2020 Disease Rare intoxication due to medical products MONDO CN227165 MONDO:0017633 17 Apr 2020 Disease Rare isolated myopia Orphanet C4751232 ORPHA98619 08 Apr 2018 Disease Rare lymphatic system malformation MONDO CN200997 MONDO:0016233 17 Apr 2020 Disease Rare male fertility disorder with obstructive azoospermia MONDO CN227342 MONDO:0018396 17 Apr 2020 Disease Rare male infertility due to adrenal disorder MONDO CN227335 MONDO:0018387 17 Apr 2020 Disease Rare male infertility due to adrenal disorder of genetic origin MONDO CN227351 MONDO:0018406 17 Apr 2020 Disease Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder MONDO CN227334 MONDO:0018386 17 Apr 2020 Disease Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin MONDO CN227350 MONDO:0018405 17 Apr 2020 Disease Rare male infertility due to testicular endocrine disorder MONDO CN227336 MONDO:0018388 17 Apr 2020 Disease Rare maxillo-facial surgical disease MONDO CN205523 MONDO:0019038 17 Apr 2020 Disease Rare mucosal lichen planus MONDO CN226996 MONDO:0016768 17 Apr 2020 Disease Rare neuroinflammatory or neuroimmunological disease MONDO CN200514 MONDO:0015916 17 Apr 2020 Disease Rare neurologic disease with psychiatric involvement MONDO CN206949 MONDO:0020016 17 Apr 2020 Disease Rare non surgically correctable form of primary aldosteronism MONDO CN226947 MONDO:0016508 17 Apr 2020 Disease Rare non-malformative breast disease MONDO CN200460 MONDO:0015858 17 Apr 2020 Disease Rare non-malformative gynecologic or obstetric disease MONDO CN200458 MONDO:0015857 17 Apr 2020 Disease Rare non-malformative uterine adnexal disease MONDO CN200481 MONDO:0015875 17 Apr 2020 Disease Rare non-malformative uterovaginal or vulvovaginal disease MONDO CN200461 MONDO:0015859 17 Apr 2020 Disease Rare odontal or periodontal disorder MONDO CN226712 MONDO:0015603 17 Apr 2020 Disease Rare odontologic disease MONDO CN206946 MONDO:0020013 17 Apr 2020 Disease Rare or common MONDO MONDO:0021135 17 Apr 2020 Disease Rare otorhinolaryngologic tumor MONDO CN206960 MONDO:0020035 17 Apr 2020 Disease Rare otorhinolaryngological malformation MONDO CN227722 MONDO:0019936 17 Apr 2020 Disease Rare palpebral, lacrimal system and conjunctival disease MONDO MONDO:0020150 17 Apr 2020 Disease Rare parathyroid disease and phosphocalcic metabolism anomaly MONDO CN205542 MONDO:0019061 17 Apr 2020 Disease Rare parkinsonian syndrome due to genetic neurodegenerative disease MONDO CN203548 MONDO:0017661 17 Apr 2020 Disease Rare parkinsonian syndrome due to intoxication MONDO CN203533 MONDO:0017637 17 Apr 2020 Disease Rare paroxysmal movement disorder MONDO CN227171 MONDO:0017657 17 Apr 2020 Disease Rare pervasive developmental disorder Orphanet C0524528 ORPHA168778 04 Mar 2019 Disease Rare photodermatosis MONDO C0920193 MONDO:0019304 17 Apr 2020 Disease Rare refraction anomaly MONDO C0034951 MONDO:0020206 17 Apr 2020 Disease Rare strabismus and restriction syndrome MONDO CN207070 MONDO:0020251 17 Apr 2020 Disease Rare surgically correctable form of primary aldosteronism MONDO CN226946 MONDO:0016507 17 Apr 2020 Disease Rare syndrome with cardiac malformations MONDO CN199638 MONDO:0015506 17 Apr 2020 Disease Rare syndromic intellectual disability Orphanet CN283244 ORPHA102369 29 Jun 2020 Disease Rare teratologic disease MONDO CN205231 MONDO:0018880 17 Apr 2020 Disease Rare thrombotic disease of hematologic origin MONDO CN200513 MONDO:0015913 17 Apr 2020 Disease Rare tumor of gallbladder and extrahepatic biliary tract MONDO C0750952 MONDO:0017631 17 Apr 2020 Disease Rare uterine adnexal tumor MONDO CN200464 MONDO:0015861 17 Apr 2020 Disease Rare vaginal malformation MONDO CN226752 MONDO:0015847 17 Apr 2020 Disease Rare variants of adenocarcinoma of the corpus uteri MONDO CN201043 MONDO:0016254 17 Apr 2020 Disease Rare vascular malformation of major vessels MONDO CN242093 MONDO:0018723 17 Apr 2020 Disease Rare venous malformation MONDO C0265950 MONDO:0016232 17 Apr 2020 Disease Rare vulvovaginal tumor MONDO CN200482 MONDO:0015876 17 Apr 2020 Disease Rarefied white matter in parieto-occipital regions 23 Jan 2020 Finding RAS Inhibitor response 04 May 2018 Pharmacological response RAS-associated autoimmune leukoproliferative disorder NCBI curation C2674723 614470 16 Feb 2016 Disease Rasburicase response CN078005 16 Feb 2016 Pharmacological response RASGRP1 deficiency CN262234 10 Sep 2019 Disease Rasmussen encephalitis 16 Feb 2016 Disease Rasmussen subacute encephalitis C2930868 16 Feb 2016 Infectious disease Rasmussen syndrome C0393484 16 Feb 2016 Disease Rasopathy NCBI curation CN166718 16 Feb 2016 Disease Rat-bite fever MONDO C0034686 MONDO:0006941 22 Apr 2020 Infectious disease Ravine syndrome MONDO C4275006 MONDO:0020505 17 Apr 2020 Disease RAX2-Related Disorders 23 May 2019 Disease Raynaud phenomenon Human Phenotype Ontology C0034735 HP:0030880 02 Apr 2017 Finding Raynaud's disease C0034734 179600 16 Feb 2016 Disease RBBP8-Related Disorders CN239300 02 Dec 2016 Disease RD CN238759 19 Oct 2016 Finding RDH12-Related Disorders 23 May 2019 Disease Reactive angioendotheliomatosis 16 Feb 2016 Disease Reactive arthritis MONDO C0085435 MONDO:0017376 17 Apr 2020 Disease reactive attachment disorder C0525043 18 Jan 2019 Finding Reactive attachment disorder of early childhood 16 Feb 2016 Disease Reactive attachment disorder of infancy 16 Feb 2016 Disease Reactive cutaneous fibrous lesion MONDO C1335666 MONDO:0006603 17 Apr 2020 Disease Reactive hypoglycemia Human Phenotype Ontology C0271710 HP:0012051 16 Feb 2016 Finding Reactive oxygen species generation, decreased NCBI curation 16 Feb 2016 Disease Reactive thrombocytosis MONDO C0457506 MONDO:0024518 17 Apr 2020 Disease reading disorder 05 Sep 2019 Finding Reading seizure C0278193 132300 16 Feb 2016 Disease Reardon Hall Slaney syndrome 16 Feb 2016 Disease Recalcitrant atopic dermatitis MONDO MONDO:0006514 17 Apr 2020 Disease Receptive language delay Human Phenotype Ontology C0454642 HP:0010863 16 Feb 2016 Finding receptive-expressive language disorder 05 Sep 2019 Finding Recessive aplasia cutis congenita of limbs MONDO C1838206 MONDO:0010876 600360 22 Apr 2020 Disease recessive ARS-related multisystem disease 20 Jun 2019 Disease Recessive developmental delay, small stature, microcephaly and brain calcifications 16 Feb 2016 Disease Recessive dystrophic epidermolysis bullosa NCBI curation C0079474 226600 16 Feb 2016 Disease Recessive dystrophic epidermolysis bullosa-generalized other MONDO CN229801 MONDO:0019522 22 Apr 2020 Disease Recessive Marfanoid Syndrome with Severe Herniation 02 Mar 2020 Finding Recessive mitochondrial ataxia syndrome Orphanet C4760799 ORPHA94125 27 Dec 2016 Disease Reclassified - variant of unknown significance NCBI curation 16 Feb 2016 Disease Recombinant 8 syndrome MONDO C0795822 MONDO:0008365 179613 17 Apr 2020 Disease Recombinase activating gene 1 deficiency MONDO MONDO:0000572 17 Apr 2020 Disease Recombinase activating gene 2 deficiency NCBI curation CN257931 29 Dec 2018 Disease RECOMBINATION ACTIVATING GENE 1 POLYMORPHISM 16 Feb 2016 Disease Recombination rate quantitative trait locus 1 NCBI curation C2677576 612042 16 Feb 2016 Disease Rectal abscess Human Phenotype Ontology C0149770 HP:0005224 16 Feb 2016 Finding Rectal Adenocarcinoma NCBI curation C0149978 24 Aug 2018 Disease Rectal adenosquamous carcinoma MONDO C1709865 MONDO:0056817 17 Apr 2020 Disease Rectal arteriovenous malformation Human Phenotype Ontology C4531180 HP:0031346 04 Apr 2018 Finding Rectal atresia Human Phenotype Ontology C0549173 HP:0025023 02 Apr 2017 Finding Rectal cancer MONDO MONDO:0006519 17 Apr 2020 Disease Rectal cancer, childhood 16 Feb 2016 Disease Rectal carcinoma MONDO C0007113 MONDO:0044937 17 Apr 2020 Disease Rectal cloacogenic carcinoma MONDO C1333074 MONDO:0004052 17 Apr 2020 Disease Rectal disease MONDO C0034882 MONDO:0001593 17 Apr 2020 Disease Rectal duplication MONDO C4511483 MONDO:0015734 17 Apr 2020 Disease Rectal fistula Human Phenotype Ontology C0034884 HP:0100590 16 Feb 2016 Finding Rectal hyperplastic polyp MONDO C1335679 MONDO:0006392 17 Apr 2020 Disease Rectal neoplasm 16 Feb 2016 Disease Rectal neuroendocrine tumor G1 MONDO C1335678 MONDO:0021534 17 Apr 2020 Disease Rectal perforation Human Phenotype Ontology C0341402 HP:0031371 04 Apr 2018 Finding Rectal polyposis Human Phenotype Ontology C0034887 HP:0100896 16 Feb 2016 Finding Rectal prolapse Human Phenotype Ontology C0034888 HP:0002035 16 Feb 2016 Finding Rectal sarcomatoid carcinoma MONDO C1335689 MONDO:0004196 17 Apr 2020 Disease Rectal signet ring cell adenocarcinoma MONDO C0279654 MONDO:0004336 17 Apr 2020 Disease Rectal traditional serrated adenoma MONDO C3272790 MONDO:0006393 17 Apr 2020 Disease Rectal tubular adenoma MONDO C3272804 MONDO:0006394 17 Apr 2020 Disease Rectal tubulovillous adenoma MONDO C1335691 MONDO:0006395 17 Apr 2020 Disease Rectal villous adenoma MONDO C0730199 MONDO:0006396 17 Apr 2020 Disease Rectilinear intracellular accumulation of autofluorescent lipopigment storage material Human Phenotype Ontology C1850447 HP:0003226 16 Feb 2016 Finding Rectocele Human Phenotype Ontology C0149771 HP:0100822 16 Feb 2016 Finding Rectoperineal fistula Human Phenotype Ontology C0240880 HP:0004792 16 Feb 2016 Finding Rectosigmoid carcinoma MONDO C1327709 MONDO:0002424 17 Apr 2020 Disease Rectosigmoid junction cancer MONDO C0153443 MONDO:0002425 17 Apr 2020 Disease Rectosigmoid junction neoplasm MONDO C0345873 MONDO:0002423 17 Apr 2020 Disease Rectosigmoid neoplasm 16 Feb 2016 Disease Rectourethral fistula Human Phenotype Ontology C0268875 HP:0025407 04 Apr 2018 Finding Rectovaginal fistula Human Phenotype Ontology C0034895 HP:0000143 16 Feb 2016 Finding Rectovestibular fistula Human Phenotype Ontology C4293695 HP:0025025 02 Apr 2017 Finding Rectum adenoma MONDO C1302652 MONDO:0000530 17 Apr 2020 Disease Rectum carcinoma in situ MONDO C0154062 MONDO:0004725 17 Apr 2020 Disease Rectum Kaposi sarcoma MONDO C1335681 MONDO:0003796 17 Apr 2020 Disease Rectum leiomyoma MONDO C1335682 MONDO:0004125 17 Apr 2020 Disease Rectum leiomyosarcoma MONDO C1335683 MONDO:0003379 17 Apr 2020 Disease Rectum lymphoma MONDO C1335685 MONDO:0002166 17 Apr 2020 Disease Rectum malignant melanoma MONDO C0349539 MONDO:0002167 17 Apr 2020 Disease Rectum mucinous adenocarcinoma MONDO C0279652 MONDO:0002748 17 Apr 2020 Disease Rectum rhabdomyosarcoma MONDO C1335687 MONDO:0002853 17 Apr 2020 Disease Rectum sarcoma MONDO C1335688 MONDO:0002168 17 Apr 2020 Disease Rectus femoris muscle atrophy Human Phenotype Ontology C2083352 HP:0040191 16 Feb 2016 Finding Recurrent abortion C3280670 614389 16 Feb 2016 Disease Recurrent abscess formation Human Phenotype Ontology C4025684 HP:0002722 16 Feb 2016 Finding recurrent acute otitis media C0395866 18 Jan 2019 Finding Recurrent aphthous stomatitis Human Phenotype Ontology C2937365 HP:0011107 16 Feb 2016 Finding Recurrent Aspergillus infections Human Phenotype Ontology C4021752 HP:0002724 16 Feb 2016 Finding Recurrent aspiration pneumonia Human Phenotype Ontology C0747651 HP:0002100 16 Feb 2016 Finding Recurrent bacterial chest infections CN235536 16 Mar 2016 Finding Recurrent bacterial infections Human Phenotype Ontology C1844383 HP:0002718 16 Feb 2016 Finding Recurrent bacterial meningitis Human Phenotype Ontology C1845604 HP:0007274 16 Feb 2016 Finding Recurrent bacterial skin infections Human Phenotype Ontology C1835686 HP:0005406 16 Feb 2016 Finding Recurrent bronchiolitis Human Phenotype Ontology C4015136 HP:0100501 16 Feb 2016 Finding Recurrent bronchitis Human Phenotype Ontology C0741796 HP:0002837 16 Feb 2016 Finding Recurrent bronchopulmonary infections Human Phenotype Ontology C2169795 HP:0006538 16 Feb 2016 Finding Recurrent Burkholderia cepacia infections Human Phenotype Ontology C4025673 HP:0002842 16 Feb 2016 Finding Recurrent candida infections Human Phenotype Ontology C1860128 HP:0005401 16 Feb 2016 Finding Recurrent cerebral hemorrhage Human Phenotype Ontology C4025264 HP:0004968 16 Feb 2016 Finding Recurrent corneal erosions Human Phenotype Ontology C0155119 HP:0000495 16 Feb 2016 Finding Recurrent cutaneous abscess formation Human Phenotype Ontology C4021957 HP:0100838 16 Feb 2016 Finding Recurrent cutaneous fungal infections Human Phenotype Ontology C4023394 HP:0011370 16 Feb 2016 Finding Recurrent cystitis Human Phenotype Ontology C0581366 HP:0012786 16 Feb 2016 Finding Recurrent deep vein thrombosis Human Phenotype Ontology C1735901 HP:0004850 16 Feb 2016 Finding Recurrent depression C0221480 16 Feb 2016 Finding Recurrent E. coli infections Human Phenotype Ontology C0014836 HP:0002740 16 Feb 2016 Infectious disease Recurrent ear infections Human Phenotype Ontology C0743360 HP:0410018 28 Mar 2018 Finding Recurrent encephalopathy Human Phenotype Ontology C1850719 HP:0007335 16 Feb 2016 Finding Recurrent enteroviral infections Human Phenotype Ontology C4025681 HP:0002743 16 Feb 2016 Finding recurrent episodes of diarrhea, delayed walking and progressive deformity of the legs, brief generalised tonic seizure, hypoglycaemia,Polyuria and polydipsia, proximal renal dysfunction 31 Oct 2017 Finding Recurrent external ophthalmoplegia Human Phenotype Ontology C4024915 HP:0007250 16 Feb 2016 Finding Recurrent fractures Human Phenotype Ontology C0016655 HP:0002757 16 Feb 2016 Finding Recurrent fungal infections Human Phenotype Ontology C1844384 HP:0002841 16 Feb 2016 Finding Recurrent gastroenteritis Human Phenotype Ontology C3808828 HP:0031123 04 Apr 2018 Finding Recurrent gram-negative bacterial infections Human Phenotype Ontology C4025198 HP:0005420 16 Feb 2016 Finding Recurrent Haemophilus influenzae infections Human Phenotype Ontology C4025204 HP:0005376 16 Feb 2016 Finding Recurrent hand flapping Human Phenotype Ontology C4022387 HP:0100023 16 Feb 2016 Finding Recurrent hypersomnia MONDO C0751226 MONDO:0004617 17 Apr 2020 Disease Recurrent hypoglycemia Human Phenotype Ontology C1846288 HP:0001988 16 Feb 2016 Finding Recurrent idiopathic neuroretinitis MONDO CN258627 MONDO:0044689 17 Apr 2020 Disease Recurrent infantile hypoglycemia Human Phenotype Ontology C4021644 HP:0004914 16 Feb 2016 Finding Recurrent infection of the gastrointestinal tract Human Phenotype Ontology C1854495 HP:0004798 16 Feb 2016 Finding Recurrent infections Human Phenotype Ontology C0239998 HP:0002719 16 Feb 2016 Finding Recurrent infections due to aspiration Human Phenotype Ontology C3806285 HP:0004891 16 Feb 2016 Finding Recurrent infections in infancy and early childhood Human Phenotype Ontology C1844909 HP:0005437 16 Feb 2016 Finding Recurrent infections of the middle ear Human Phenotype Ontology C4551766 HP:0040268 02 Apr 2017 Finding Recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome MONDO C1860229 MONDO:0016676 17 Apr 2020 Disease Recurrent interdigital mycosis Human Phenotype Ontology C4476721 HP:0025351 02 Apr 2017 Finding Recurrent intrapulmonary hemorrhage Human Phenotype Ontology C3805919 HP:0006535 16 Feb 2016 Finding Recurrent ischemic strokes 29 Aug 2018 Finding Recurrent Klebsiella infections Human Phenotype Ontology C4021751 HP:0002742 16 Feb 2016 Finding Recurrent loss of toenails and fingernails Human Phenotype Ontology C4021542 HP:0008390 16 Feb 2016 Finding Recurrent lower respiratory tract infections Human Phenotype Ontology C3163798 HP:0002783 16 Feb 2016 Finding Recurrent mandibular subluxations Human Phenotype Ontology C1857011 HP:0005332 16 Feb 2016 Finding Recurrent meningitis Human Phenotype Ontology C0746495 HP:0006946 16 Feb 2016 Finding Recurrent meningococcal disease Human Phenotype Ontology C1970263 HP:0005381 16 Feb 2016 Finding Recurrent mycobacterial infections Human Phenotype Ontology C4023438 HP:0011274 16 Feb 2016 Finding Recurrent mycobacterium avium complex infections Human Phenotype Ontology C1737260 HP:0011275 16 Feb 2016 Finding Recurrent Neisserial infections Human Phenotype Ontology C3151083 HP:0005430 16 Feb 2016 Finding Recurrent opportunistic infections Human Phenotype Ontology C1832324 HP:0005390 16 Feb 2016 Finding Recurrent otitis media Human Phenotype Ontology C0747085 HP:0000403 16 Feb 2016 Finding Recurrent pancreatitis Human Phenotype Ontology C4551632 HP:0100027 16 Feb 2016 Finding Recurrent parasitic infections Human Phenotype Ontology C4280726 HP:0030885 02 Apr 2017 Finding Recurrent paroxysmal headache Human Phenotype Ontology C4293708 HP:0002331 02 Apr 2017 Finding Recurrent patellar dislocation Human Phenotype Ontology C0409412 HP:0005001 16 Feb 2016 Finding Recurrent peripheral facial palsy 16 Feb 2016 Disease Recurrent pharyngitis Human Phenotype Ontology C0747556 HP:0100776 16 Feb 2016 Finding Recurrent plantar mycosis Human Phenotype Ontology C4476800 HP:0025472 04 Apr 2018 Finding Recurrent pneumonia Human Phenotype Ontology C0694550 HP:0006532 16 Feb 2016 Finding Recurrent pneumonia (disease) MONDO CN281796 MONDO:0005936 04 Jun 2020 Infectious disease Recurrent pregnancy loss 4 NCBI curation C3279437 16 Feb 2016 Disease Recurrent protozoan infections Human Phenotype Ontology C4025202 HP:0005386 16 Feb 2016 Finding Recurrent pyelonephritis Human Phenotype Ontology C0748199 HP:0012787 16 Feb 2016 Finding Recurrent respiratory infections Human Phenotype Ontology C3806482 HP:0002205 16 Feb 2016 Finding recurrent respiratory infections and aspirations CN238710 19 Oct 2016 Finding Recurrent respiratory papillomatosis C1168198 16 Feb 2016 Disease Recurrent septicemia CN239558 09 Dec 2016 Finding Recurrent Serratia marcescens infections Human Phenotype Ontology C4025682 HP:0002741 16 Feb 2016 Finding Recurrent should dislocation Human Phenotype Ontology C0409415 HP:0031610 04 Apr 2018 Finding Recurrent singultus Human Phenotype Ontology C0744897 HP:0100247 16 Feb 2016 Finding Recurrent sinopulmonary infections Human Phenotype Ontology C1846546 HP:0005425 16 Feb 2016 Finding Recurrent sinusitis Human Phenotype Ontology C0581354 HP:0011108 16 Feb 2016 Finding Recurrent skin infections Human Phenotype Ontology C1853193 HP:0001581 16 Feb 2016 Finding Recurrent spontaneous abortion Human Phenotype Ontology C3279439 HP:0200067 16 Feb 2016 Finding Recurrent staphylococcal infections Human Phenotype Ontology C4024862 HP:0007499 16 Feb 2016 Finding Recurrent Staphylococcus aureus infections Human Phenotype Ontology C2673462 HP:0002726 16 Feb 2016 Finding Recurrent streptococcus pneumoniae infections Human Phenotype Ontology C2169794 HP:0005366 16 Feb 2016 Finding Recurrent subcortical infarcts Human Phenotype Ontology C4024918 HP:0007236 16 Feb 2016 Finding Recurrent systemic pyogenic infections Human Phenotype Ontology C4025196 HP:0005429 16 Feb 2016 Finding Recurrent thromboembolism Human Phenotype Ontology C4025286 HP:0004831 16 Feb 2016 Finding Recurrent thrombophlebitis Human Phenotype Ontology C3550150 HP:0004419 16 Feb 2016 Finding Recurrent upper and lower respiratory tract infections Human Phenotype Ontology C1842777 HP:0200117 16 Feb 2016 Finding Recurrent upper respiratory tract infections Human Phenotype Ontology C0581381 HP:0002788 16 Feb 2016 Finding recurrent URI 05 Sep 2019 Finding Recurrent urinary tract infections Human Phenotype Ontology C0262655 HP:0000010 16 Feb 2016 Finding Recurrent viral infections Human Phenotype Ontology C1837066 HP:0004429 16 Feb 2016 Finding Recurrent viral skin infections Human Phenotype Ontology C4023393 HP:0011371 16 Feb 2016 Finding Recurrent vulvovaginal candidiasis Human Phenotype Ontology C4023003 HP:0012204 16 Feb 2016 Finding Red blood cell keratocytosis Human Phenotype Ontology C4021635 HP:0005540 16 Feb 2016 Finding Red cell permeability defect NCBI curation C1867340 179650 16 Feb 2016 Disease Red cell phospholipid defect with hemolysis C1867339 179700 16 Feb 2016 Disease RED CONE POLYMORPHISM 16 Feb 2016 Disease Red desaturation Human Phenotype Ontology C4073058 HP:0030585 16 Feb 2016 Finding Red eye Human Phenotype Ontology C0235267 HP:0025337 02 Apr 2017 Finding Red hair Human Phenotype Ontology C0239803 HP:0002297 16 Feb 2016 Finding Red skin pigment anomaly of New Guinea C1849451 266350 16 Feb 2016 Disease Red urine Human Phenotype Ontology C0858862 HP:0040318 04 Apr 2018 Finding Red-brown urine Human Phenotype Ontology C4477046 HP:0040320 04 Apr 2018 Finding Red-green color vision defects NCBI curation CN043660 16 Feb 2016 Disease Red-green dyschromatopsia Human Phenotype Ontology C0155016 HP:0000642 16 Feb 2016 Finding Reduced 4-Hydroxyphenylpyruvate dioxygenase activity Human Phenotype Ontology C4025587 HP:0003637 16 Feb 2016 Finding Reduced activity of beta-galactosidase enzyme in biochemical assay 12 Sep 2019 Finding Reduced activity of N-acetylglucosaminyltransferase II Human Phenotype Ontology C4021725 HP:0003655 16 Feb 2016 Finding Reduced aldolase level Human Phenotype Ontology C4022857 HP:0012545 16 Feb 2016 Finding Reduced alpha-2-antiplasmin activity Human Phenotype Ontology C4280703 HP:0040245 02 Apr 2017 Finding Reduced alpha/beta synthesis ratio Human Phenotype Ontology C4023136 HP:0011907 16 Feb 2016 Finding Reduced amplitude of dark-adapted bright flash electroretinogram a-wave Human Phenotype Ontology C4072973 HP:0030483 16 Feb 2016 Finding Reduced amygdala volume Human Phenotype Ontology C4476780 HP:0025444 04 Apr 2018 Finding Reduced antigen-specific T cell proliferation Human Phenotype Ontology C4531148 HP:0031402 04 Apr 2018 Finding Reduced antithrombin antigen Human Phenotype Ontology C4280702 HP:0040246 02 Apr 2017 Finding Reduced arm span Human Phenotype Ontology C4022730 HP:0012770 16 Feb 2016 Finding Reduced beta/alpha synthesis ratio Human Phenotype Ontology C4023137 HP:0011906 16 Feb 2016 Finding Reduced bone mineral density Human Phenotype Ontology C2674432 HP:0004349 16 Feb 2016 Finding Reduced brain choline level by MRS Human Phenotype Ontology C4476567 HP:0025048 02 Apr 2017 Finding Reduced brain creatine level by MRS Human Phenotype Ontology C4476570 HP:0025051 02 Apr 2017 Finding Reduced brain gamma-aminobutyric acid level by MRS Human Phenotype Ontology C4477080 HP:0500021 04 Apr 2018 Finding Reduced brain glutamate level by MRS Human Phenotype Ontology C4477012 HP:0031161 04 Apr 2018 Finding Reduced brain glutamine level by MRS Human Phenotype Ontology C4476893 HP:0030980 04 Apr 2018 Finding Reduced brain lactate level by MRS Human Phenotype Ontology C4476565 HP:0025046 02 Apr 2017 Finding Reduced brain N-acetyl aspartate level by MRS Human Phenotype Ontology C4022761 HP:0012708 16 Feb 2016 Finding Reduced C-peptide level Human Phenotype Ontology C4280764 HP:0030795 02 Apr 2017 Finding Reduced carnitine O-palmitoyltransferase activity Human Phenotype Ontology C4022921 HP:0012380 16 Feb 2016 Finding Reduced catalase activity Human Phenotype Ontology C4022869 HP:0012517 16 Feb 2016 Finding Reduced cell surface marker level Human Phenotype Ontology C4531049 HP:0031551 04 Apr 2018 Finding Reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration Human Phenotype Ontology C4021091 HP:0012336 16 Feb 2016 Finding Reduced circulating T-helper cells Human Phenotype Ontology C4024723 HP:0008165 16 Feb 2016 Finding Reduced consciousness/confusion Human Phenotype Ontology C0234428 HP:0004372 16 Feb 2016 Finding Reduced contraction of the left ventricular apex Human Phenotype Ontology C4531092 HP:0031483 04 Apr 2018 Finding Reduced CSF dopamine level Human Phenotype Ontology C4022800 HP:0012656 16 Feb 2016 Finding Reduced CSF lactate Human Phenotype Ontology C4022655 HP:0030086 16 Feb 2016 Finding Reduced delayed hypersensitivity Human Phenotype Ontology C1843386 HP:0002972 16 Feb 2016 Finding Reduced dihydropyrimidine dehydrogenase activity Human Phenotype Ontology C4025582 HP:0003654 16 Feb 2016 Finding Reduced ejection fraction Human Phenotype Ontology C4022792 HP:0012664 16 Feb 2016 Finding Reduced elbow extension 01 Aug 2019 Finding Reduced erythrocyte 2,3-diphosphoglycerate concentration Human Phenotype Ontology C4022546 HP:0030271 16 Feb 2016 Finding Reduced euglobulin clot lysis time Human Phenotype Ontology C4280701 HP:0040247 02 Apr 2017 Finding Reduced factor IX activity Human Phenotype Ontology C4023159 HP:0011858 16 Feb 2016 Finding Reduced factor V activity Human Phenotype Ontology C4317320 HP:0003225 16 Feb 2016 Finding Reduced factor VII activity Human Phenotype Ontology C4024722 HP:0008169 16 Feb 2016 Finding Reduced factor VIII activity Human Phenotype Ontology C4025649 HP:0003125 16 Feb 2016 Finding Reduced factor X activity Human Phenotype Ontology C4024702 HP:0008321 16 Feb 2016 Finding Reduced factor XI activity Human Phenotype Ontology C4317093 HP:0001929 16 Feb 2016 Finding Reduced factor XIII activity Human Phenotype Ontology C4024692 HP:0008357 16 Feb 2016 Finding Reduced fibroblast CD16 level Human Phenotype Ontology C4531041 HP:0031559 04 Apr 2018 Finding Reduced fibroblast CD55 level Human Phenotype Ontology C4531043 HP:0031557 04 Apr 2018 Finding Reduced fibroblast CD59 level Human Phenotype Ontology C4531042 HP:0031558 04 Apr 2018 Finding Reduced fibroblast surface marker level Human Phenotype Ontology C4531048 HP:0031552 04 Apr 2018 Finding Reduced generation of multiple motile cilia (RGMC) CN280866 01 May 2020 Disease Reduced granulocyte CD16 level Human Phenotype Ontology C4531044 HP:0031556 04 Apr 2018 Finding Reduced granulocyte CD55 level Human Phenotype Ontology C4531046 HP:0031554 04 Apr 2018 Finding Reduced granulocyte CD59 level Human Phenotype Ontology C4531045 HP:0031555 04 Apr 2018 Finding Reduced granulocyte surface marker level Human Phenotype Ontology C4531047 HP:0031553 04 Apr 2018 Finding Reduced growth-hormone binding protein level Human Phenotype Ontology C4476923 HP:0031036 04 Apr 2018 Finding Reduced hemoglobin A Human Phenotype Ontology C4023138 HP:0011905 16 Feb 2016 Finding Reduced hemolytic complement activity Human Phenotype Ontology C4476774 HP:0025434 04 Apr 2018 Finding Reduced insulin like growth factor binding protein acid labile subunit level Human Phenotype Ontology C4321359 HP:0045046 04 Apr 2018 Finding Reduced insulin-like factor 3 level Human Phenotype Ontology C4476924 HP:0031037 04 Apr 2018 Finding Reduced intraabdominal adipose tissue Human Phenotype Ontology C4476602 HP:0025128 02 Apr 2017 Finding Reduced intrathoracic adipose tissue Human Phenotype Ontology C4476537 HP:0003809 02 Apr 2017 Finding Reduced lactate dehydrogenase B level Human Phenotype Ontology C4477051 HP:0045041 04 Apr 2018 Finding Reduced leukocyte alkaline phosphatase Human Phenotype Ontology C1850780 HP:0004852 16 Feb 2016 Finding Reduced lymphocyte surface expression of CD43 Human Phenotype Ontology C4021766 HP:0001983 02 Apr 2017 Finding Reduced lysosomal acid lipase activity Human Phenotype Ontology C4531280 HP:0031205 04 Apr 2018 Finding Reduced maximal expiratory pressure Human Phenotype Ontology C4022879 HP:0012497 16 Feb 2016 Finding Reduced maximal inspiratory pressure Human Phenotype Ontology C4022880 HP:0012496 16 Feb 2016 Finding Reduced MHC II surface expression Human Phenotype Ontology C4531158 HP:0031390 04 Apr 2018 Finding reduced mobility 05 Sep 2019 Finding Reduced muscle carnitine level Human Phenotype Ontology C4072902 HP:0030362 16 Feb 2016 Finding Reduced muscle collagen VI Human Phenotype Ontology C4021054 HP:0030095 16 Feb 2016 Finding Reduced muscle dystrophin expression Human Phenotype Ontology C4021053 HP:0030098 16 Feb 2016 Finding Reduced muscle fiber alpha dystroglycan Human Phenotype Ontology C4022646 HP:0030099 16 Feb 2016 Finding Reduced muscle fiber alpha sarcoglycan Human Phenotype Ontology C4022643 HP:0030102 16 Feb 2016 Finding Reduced muscle fiber beta sarcoglycan Human Phenotype Ontology C4022638 HP:0030107 16 Feb 2016 Finding Reduced muscle fiber calpain-3 Human Phenotype Ontology C4022624 HP:0030121 16 Feb 2016 Finding Reduced muscle fiber delta sarcoglycan Human Phenotype Ontology C4022634 HP:0030111 16 Feb 2016 Finding Reduced muscle fiber dysferlin Human Phenotype Ontology C4022630 HP:0030115 16 Feb 2016 Finding Reduced muscle fiber emerin Human Phenotype Ontology C4022627 HP:0030118 16 Feb 2016 Finding Reduced muscle fiber gamma sarcoglycan Human Phenotype Ontology C4022637 HP:0030108 16 Feb 2016 Finding Reduced muscle fiber lamin A/C Human Phenotype Ontology C4022621 HP:0030124 16 Feb 2016 Finding Reduced muscle fiber laminin beta 1 Human Phenotype Ontology C4022649 HP:0030094 16 Feb 2016 Finding Reduced muscle fiber merosin Human Phenotype Ontology C4022651 HP:0030092 16 Feb 2016 Finding Reduced muscle fiber perlecan Human Phenotype Ontology C4022623 HP:0030122 16 Feb 2016 Finding Reduced natural killer cell activity Human Phenotype Ontology C1839969 HP:0012178 16 Feb 2016 Finding Reduced natural killer cell number Human Phenotype Ontology C1855767 HP:0040218 02 Apr 2017 Finding Reduced number of corneal endothelial cells Human Phenotype Ontology C4023329 HP:0011491 16 Feb 2016 Finding Reduced number of intrahepatic bile ducts Human Phenotype Ontology C4021591 HP:0006571 16 Feb 2016 Finding Reduced number of teeth Human Phenotype Ontology C4024202 HP:0009804 16 Feb 2016 Finding Reduced OCT-measured foveal thickness Human Phenotype Ontology C4073089 HP:0030619 16 Feb 2016 Finding Reduced OCT-measured macular thickness Human Phenotype Ontology C4073077 HP:0030607 16 Feb 2016 Finding Reduced orotidine 5-prime phosphate decarboxylase activity Human Phenotype Ontology C4025636 HP:0003267 16 Feb 2016 Finding Reduced pancreatic beta cells Human Phenotype Ontology C1856904 HP:0006274 16 Feb 2016 Finding Reduced phenylalanine hydroxylase activity Human Phenotype Ontology C4025094 HP:0005982 16 Feb 2016 Finding Reduced plasminogen activator inhibitor 1 activity Human Phenotype Ontology C4280700 HP:0040248 02 Apr 2017 Finding Reduced plasminogen activator inhibitor 1 antigen Human Phenotype Ontology C4280699 HP:0040249 02 Apr 2017 Finding Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells Human Phenotype Ontology C4531149 HP:0031401 04 Apr 2018 Finding Reduced proportion of naive T cells Human Phenotype Ontology C4531152 HP:0031397 04 Apr 2018 Finding Reduced protein C activity Human Phenotype Ontology C0398625 HP:0005543 16 Feb 2016 Finding Reduced protein S activity Human Phenotype Ontology C4025284 HP:0004855 16 Feb 2016 Finding Reduced prothrombin activity Human Phenotype Ontology HP:0012201 16 Feb 2016 Finding Reduced prothrombin antigen Human Phenotype Ontology C4280698 HP:0040250 02 Apr 2017 Finding Reduced prothrombin consumption Human Phenotype Ontology C4021732 HP:0003337 16 Feb 2016 Finding Reduced proximal interphalangeal joint space Human Phenotype Ontology C1861396 HP:0006019 16 Feb 2016 Finding Reduced quantity of Von Willebrand factor Human Phenotype Ontology C4023022 HP:0012147 16 Feb 2016 Finding Reduced radioactive iodine uptake Human Phenotype Ontology C4531269 HP:0031219 04 Apr 2018 Finding Reduced ratio of renal calcium clearance to creatinine clearance Human Phenotype Ontology C4025605 HP:0003513 16 Feb 2016 Finding Reduced red cell adenosine deaminase activity Human Phenotype Ontology C4022544 HP:0030273 16 Feb 2016 Finding Reduced red cell pyruvate kinase activity Human Phenotype Ontology C4476595 HP:0025109 02 Apr 2017 Finding Reduced renal corticomedullary differentiation Human Phenotype Ontology C3807131 HP:0005565 16 Feb 2016 Finding Reduced sex -hormone binding protein level Human Phenotype Ontology C4531135 HP:0031419 04 Apr 2018 Finding Reduced sperm motility Human Phenotype Ontology C0403823 HP:0012207 16 Feb 2016 Finding Reduced subcutaneous adipose tissue Human Phenotype Ontology C1857657 HP:0003758 16 Feb 2016 Finding Reduced supratentorial white matter 23 Jan 2020 Finding Reduced systolic function Human Phenotype Ontology C4025008 HP:0006673 16 Feb 2016 Finding Reduced T cell CD40 expression Human Phenotype Ontology C4531163 HP:0031384 04 Apr 2018 Finding Reduced tendon reflexes Human Phenotype Ontology C1866934 HP:0001315 16 Feb 2016 Finding Reduced thyroxin-binding globulin Human Phenotype Ontology C4022872 HP:0012509 16 Feb 2016 Finding Reduced upper to lower segment ratio Human Phenotype Ontology C4551956 HP:0012773 16 Feb 2016 Finding Reduced vision CN232349 16 Feb 2016 Finding Reduced visual accommodation Human Phenotype Ontology C4280759 HP:0030801 02 Apr 2017 Finding Reduced visual acuity Human Phenotype Ontology C0234632 HP:0007663 16 Feb 2016 Finding Reduced vital capacity Human Phenotype Ontology C0476408 HP:0002792 16 Feb 2016 Finding Reduced volume of central subdivision of bed nucleus of stria terminalis Human Phenotype Ontology C4280762 HP:0030797 02 Apr 2017 Finding Reduced von Willebrand factor activity Human Phenotype Ontology C4024701 HP:0008330 16 Feb 2016 Finding Reduced white matter volume 23 Jan 2020 Finding Reduced xanthine dehydrogenase activity Human Phenotype Ontology C4025600 HP:0003534 16 Feb 2016 Finding Reducing body myopathy MONDO C0270970 MONDO:0019948 17 Apr 2020 Disease reduction defects of lower limb 05 Sep 2019 Finding Reduction of neutrophil motility Human Phenotype Ontology C4025201 HP:0005400 16 Feb 2016 Finding Reduction of oligodendroglia Human Phenotype Ontology C4021852 HP:0100709 16 Feb 2016 Finding Reductional transverse limb defects 16 Feb 2016 Disease Redundant neck skin Human Phenotype Ontology C1840319 HP:0005989 16 Feb 2016 Finding Redundant skin Human Phenotype Ontology C0581342 HP:0001582 16 Feb 2016 Finding Redundant skin in infancy Human Phenotype Ontology C1835587 HP:0007595 16 Feb 2016 Finding Redundant skin on fingers Human Phenotype Ontology C4024856 HP:0007516 16 Feb 2016 Finding Redundant skin on scalp CN235284 19 Feb 2016 Finding Reese retinal dysplasia C1849450 266400 16 Feb 2016 Disease Refeeding syndrome MONDO C0860549 MONDO:0400005 17 Apr 2020 Disease Reflex epilepsy MONDO C0270857 MONDO:0017768 17 Apr 2020 Disease Reflex sympathetic dystrophy NCBI curation C0034931 604335 16 Feb 2016 Disease reflux C0232483 18 Jan 2019 Finding Refractive amblyopia C0152190 15 Mar 2016 Finding Refractive error MONDO MONDO:0004892 17 Apr 2020 Disease Refractory anemia Human Phenotype Ontology C0002893 HP:0005505 16 Feb 2016 Finding Refractory anemia with excess blasts in transformation MONDO C0280028 MONDO:0015692 17 Apr 2020 Disease Refractory anemia with ringed sideroblasts (clinical) C1264195 16 Feb 2016 Disease Refractory celiac disease MONDO C4749333 MONDO:0018353 17 Apr 2020 Disease Refractory cytopenia of childhood MONDO C2826323 MONDO:0044874 17 Apr 2020 Disease Refractory cytopenia with multilineage dysplasia MONDO C0796466 MONDO:0019453 17 Apr 2020 Disease refractory epilepsy CN238689 11 Oct 2016 Finding Refractory epilepsy with Lennox Gastaut syndrome 29 Jan 2020 Disease refractory epilepsy, decompensation during febrile episode CN238763 19 Oct 2016 Finding Refractory hematologic cancer MONDO C1335724 MONDO:0004111 17 Apr 2020 Disease Refractory macrocytic anemia Human Phenotype Ontology C2675059 HP:0004861 16 Feb 2016 Finding Refractory malignant neoplasm MONDO C0677936 MONDO:0036501 17 Apr 2020 Disease Refractory plasma cell neoplasm MONDO C0278620 MONDO:0004816 17 Apr 2020 Disease Refractory precursor T-lymphoblastic lymphoma/leukemia MONDO C0854859 MONDO:0004404 17 Apr 2020 Disease Refractory sideroblastic anemia Human Phenotype Ontology C4551661 HP:0004864 16 Feb 2016 Finding Refsum disease, adult, 1 NCBI curation C2749345 16 Feb 2016 Disease Refsum disease, adult, 2 NCBI curation C2749346 16 Feb 2016 Disease Refsum syndrome 12 Feb 2020 Disease Reginato Shiapachasse syndrome 16 Feb 2016 Disease Regional abnormality of skin Human Phenotype Ontology C4023402 HP:0011356 16 Feb 2016 Finding Regional left ventricular wall motion abnormality Human Phenotype Ontology C4022789 HP:0012667 16 Feb 2016 Finding Regional odontodysplasia MONDO C0206554 MONDO:0019367 17 Apr 2020 Disease Regional ureteric cancer MONDO C0854921 MONDO:0001978 17 Apr 2020 Disease Regional variant of Guillain-Barre syndrome MONDO CN201496 MONDO:0016494 17 Apr 2020 Disease Regorafenib response NCBI curation CN518174 06 Oct 2017 Pharmacological response regression development 05 Sep 2019 Finding Regression of motor development with severe dystonia and corresponding basal ganglia lesions CN228275 16 Feb 2016 Finding regression of nodules 13 Feb 2020 Finding regression of speech 05 Sep 2019 Finding Regressive spondylometaphyseal dysplasia MONDO C4747922 MONDO:0018663 618019 22 Apr 2020 Disease regular astigmatism C0152193 18 Jan 2019 Finding Reis-Bucklers' corneal dystrophy C0339278 608470 16 Feb 2016 Disease Rela fusion-positive ependymoma MONDO C4289581 MONDO:0033980 17 Apr 2020 Disease Relapse endometrium adenocarcinoma 08 May 2020 Finding Relapse melanoma 08 May 2020 Finding Relapsed/refractory diffuse large B-cell lymphoma MONDO MONDO:0000901 17 Apr 2020 Disease Relapsing epidemic typhus MONDO CN267375 MONDO:0020571 04 Jun 2020 Infectious disease Relapsing fever MONDO C0035021 MONDO:0019633 04 Jun 2020 Infectious disease Relapsing polychondritis C0032453 16 Feb 2016 Disease Relapsing remitting multiple sclerosis NCBI curation C0751967 16 Feb 2016 Disease Relative macrocephaly Human Phenotype Ontology C1849075 HP:0004482 16 Feb 2016 Finding Relative microcephaly CN236434 13 May 2016 Finding Relatively short spine Human Phenotype Ontology C3277114 HP:0002766 16 Feb 2016 Finding REM sleep behavior disorder MONDO C0751772 MONDO:0005937 17 Apr 2020 Disease remifentanil response - Dosage, Efficacy PharmGKB 655385205PA451232 28 Jun 2019 Pharmacological response Remnants of the hyaloid vascular system Human Phenotype Ontology C1846267 HP:0007968 02 Apr 2017 Finding Renal (adult onset) CN232470 16 Feb 2016 Finding Renal (child onset) CN232548 16 Feb 2016 Finding Renal abnormalities C4014891 16 Feb 2016 Finding Renal adenoma MONDO C0334684 MONDO:0002395 17 Apr 2020 Disease Renal adysplasia dominant type 16 Feb 2016 Disease Renal agenesis Human Phenotype Ontology C0542519 HP:0000104 16 Feb 2016 Finding Renal agenesis and hypodysplasia 29 Aug 2019 Disease Renal agenesis meningomyelocele mullerian defect 16 Feb 2016 Disease Renal agenesis, bilateral 16 Feb 2016 Disease Renal aminoaciduria Human Phenotype Ontology C0002534 HP:0008335 16 Feb 2016 Finding Renal amyloidosis Human Phenotype Ontology C0268382 HP:0001917 16 Feb 2016 Finding Renal and mullerian duct hypoplasia NCBI curation C1849439 266810 16 Feb 2016 Disease Renal angiomyolipoma Human Phenotype Ontology C0241961 HP:0006772 16 Feb 2016 Disease Renal artery atheroma MONDO C0155734 MONDO:0001876 17 Apr 2020 Disease Renal artery disease MONDO C3640053 MONDO:0002286 17 Apr 2020 Disease Renal artery obstruction MONDO C0035066 MONDO:0006945 17 Apr 2020 Disease Renal artery stenosis Human Phenotype Ontology C0035067 HP:0001920 16 Feb 2016 Disease Renal atrophy Human Phenotype Ontology C0341698 HP:0012585 16 Feb 2016 Finding Renal calcification 25 Oct 2017 Finding Renal calcium wasting Human Phenotype Ontology C2673441 HP:0012637 16 Feb 2016 Finding Renal caliceal diverticuli deafness 16 Feb 2016 Disease Renal caliceal diverticuli-deafness syndrome MONDO CN202834 MONDO:0017281 17 Apr 2020 Disease Renal cancer CN881103 16 Feb 2016 Disease Renal carcinoma, familial 16 Feb 2016 Disease Renal carnitine transport defect C0342788 212140 16 Feb 2016 Disease Renal cell adenocarcinoma MONDO MONDO:0005549 17 Apr 2020 Disease Renal cell carcinoma 4 16 Feb 2016 Disease Renal cell carcinoma associated with neuroblastoma MONDO C3272295 MONDO:0017887 17 Apr 2020 Disease Renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions MONDO C1337036 MONDO:0006397 17 Apr 2020 Disease Renal cell carcinoma with paraneoplastic erythrocytosis NCBI curation C4017161 16 Feb 2016 Disease Renal cell carcinoma, nonpapillary NCBI curation C3160732 144700 16 Feb 2016 Disease Renal cell carcinoma, papillary, 1 NCBI curation C0007134 605074 06 Jul 2018 Disease Renal cell carcinoma, Xp11-associated NCBI curation C3275446 300854 16 Feb 2016 Disease Renal chloride wasting Human Phenotype Ontology C4022826 HP:0012602 16 Feb 2016 Finding Renal colic 25 Oct 2017 Finding Renal coloboma syndrome C1852759 120330 16 Feb 2016 Disease Renal cortical adenoma Human Phenotype Ontology C0346253 HP:0006735 16 Feb 2016 Finding Renal cortical atrophy Human Phenotype Ontology C4025730 HP:0002048 16 Feb 2016 Finding Renal cortical cysts Human Phenotype Ontology C1969144 HP:0000803 16 Feb 2016 Finding Renal cortical microcysts Human Phenotype Ontology C1865877 HP:0004734 16 Feb 2016 Finding Renal cortical necrosis Human Phenotype Ontology C0022656 HP:0025418 04 Apr 2018 Finding Renal corticomedullary cysts Human Phenotype Ontology C1968619 HP:0000108 16 Feb 2016 Finding Renal cyst Human Phenotype Ontology C3887499 HP:0000107 16 Feb 2016 Finding Renal cysts and diabetes syndrome NCBI curation CN206512 11 Jul 2019 Disease renal disease 05 Sep 2019 Finding Renal disease with cataract MONDO CN207058 MONDO:0020230 17 Apr 2020 Disease Renal diverticulum Human Phenotype Ontology C2315541 HP:0100877 16 Feb 2016 Finding Renal duplication Human Phenotype Ontology C0266298 HP:0000075 16 Feb 2016 Finding Renal dysplasia Human Phenotype Ontology C0266313 HP:0000110 267430 16 Feb 2016 Disease Renal dysplasia and retinal aplasia NCBI curation C0403553 16 Feb 2016 Disease Renal dysplasia diffuse autosomal recessive 16 Feb 2016 Disease Renal dysplasia limb defects 16 Feb 2016 Disease Renal dysplasia megalocystis sirenomelia 16 Feb 2016 Disease Renal dysplasia mesomelia radiohumeral fusion 16 Feb 2016 Disease Renal dysplasia, cystic, susceptibility to MONDO C3275898 MONDO:0011037 601331 22 Apr 2020 Disease Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia C1849437 266920 16 Feb 2016 Disease Renal Fanconi syndrome Human Phenotype Ontology C0341703 HP:0001994 16 Feb 2016 Finding Renal fibrosis Human Phenotype Ontology C0151650 HP:0030760 02 Apr 2017 Finding Renal focal glomerulosclerosis 23 Jan 2020 Finding Renal genital middle ear anomalies 16 Feb 2016 Disease Renal hamartoma Human Phenotype Ontology C1266142 HP:0008696 16 Feb 2016 Finding Renal hypertension MONDO C0020544 MONDO:0001105 17 Apr 2020 Disease Renal hypodysplasia C3808069 06 Jul 2019 Disease Renal hypodysplasia/aplasia 1 NCBI curation C1619700 191830 20 Jan 2020 Disease Renal hypodysplasia/aplasia 2 NCBI curation C3810359 615721 16 Feb 2016 Disease Renal hypodysplasia/aplasia 3 NCBI curation C4540497 617805 20 Jan 2020 Disease Renal hypomagnesemia 2 MONDO C1835171 MONDO:0007937 154020 22 Apr 2020 Disease Renal Hypomagnesemia, Dominant CN239436 02 Dec 2016 Disease Renal Hypomagnesemia, Recessive CN239444 02 Dec 2016 Disease Renal hypophosphatemia Human Phenotype Ontology C4024631 HP:0008732 16 Feb 2016 Finding Renal hypoplasia (disease) MONDO C0266295 MONDO:0019637 17 Apr 2020 Disease Renal hypoplasia, isolated NCBI curation C2608080 16 Feb 2016 Disease Renal hypoplasia/aplasia Human Phenotype Ontology C1857453 HP:0008678 16 Feb 2016 Finding Renal hypouricemia 2 NCBI curation C2677549 612076 16 Feb 2016 Disease Renal infectious disease MONDO MONDO:0004369 17 Apr 2020 Disease Renal insufficiency Human Phenotype Ontology C1565489 HP:0000083 16 Feb 2016 Finding Renal juxtaglomerular cell hypertrophy/hyperplasia Human Phenotype Ontology C1866496 HP:0000111 16 Feb 2016 Finding Renal leiomyoma MONDO MONDO:0006053 17 Apr 2020 Disease Renal malrotation Human Phenotype Ontology C0238210 HP:0004712 16 Feb 2016 Finding Renal medullary pyramid hypoplasia Human Phenotype Ontology C4476731 HP:0025362 02 Apr 2017 Finding Renal neoplasm Human Phenotype Ontology C0022665 HP:0009726 16 Feb 2016 Finding Renal nutcracker syndrome MONDO C3178770 MONDO:0019105 17 Apr 2020 Disease Renal osteodystrophy C0035086 16 Feb 2016 Disease Renal pelvic carcinoma Human Phenotype Ontology C4024983 HP:0006762 16 Feb 2016 Finding Renal pelvis adenocarcinoma MONDO C1335748 MONDO:0003205 17 Apr 2020 Disease Renal pelvis and ureter, transitional cell cancer 16 Feb 2016 Disease Renal pelvis carcinoma MONDO C1335749 MONDO:0005519 17 Apr 2020 Disease Renal pelvis inverted papilloma MONDO C1335751 MONDO:0003776 17 Apr 2020 Disease Renal pelvis neoplasm MONDO C0346260 MONDO:0003719 17 Apr 2020 Disease Renal pelvis papillary tumor MONDO C0853688 MONDO:0003717 17 Apr 2020 Disease Renal pelvis papillary urothelial carcinoma MONDO C1377909 MONDO:0003716 17 Apr 2020 Disease Renal pelvis squamous cell carcinoma MONDO C0238409 MONDO:0003497 17 Apr 2020 Disease Renal pelvis urothelial carcinoma MONDO C4087468 MONDO:0005221 17 Apr 2020 Disease Renal pelvis urothelial papilloma MONDO C1514844 MONDO:0003777 17 Apr 2020 Disease Renal pelvis/ureter urothelial carcinoma MONDO MONDO:0020654 17 Apr 2020 Disease Renal phenotype CN230747 16 Feb 2016 Finding Renal phosphate wasting Human Phenotype Ontology C1845169 HP:0000117 16 Feb 2016 Finding Renal potassium wasting Human Phenotype Ontology C1846348 HP:0000128 16 Feb 2016 Finding Renal pyelectasis 24 Nov 2017 Finding Renal rickets 16 Feb 2016 Disease Renal salt wasting Human Phenotype Ontology C1846347 HP:0000127 16 Feb 2016 Finding Renal sarcoma Human Phenotype Ontology C0346251 HP:0008663 16 Feb 2016 Finding Renal sodium wasting Human Phenotype Ontology C2748576 HP:0012606 16 Feb 2016 Finding Renal steatosis Human Phenotype Ontology C4021796 HP:0000799 16 Feb 2016 Finding Renal transitional cell carcinoma Human Phenotype Ontology C1319314 HP:0030409 16 Feb 2016 Finding Renal tuberculosis MONDO C0041328 MONDO:0005938 04 Jun 2020 Infectious disease Renal tubular acidosis Human Phenotype Ontology C0001126 HP:0001947 16 Feb 2016 Disease Renal tubular acidosis 3 MONDO C1849435 MONDO:0009967 267200 17 Apr 2020 Disease Renal tubular acidosis progressive nerve deafness 16 Feb 2016 Disease Renal tubular acidosis with progressive nerve deafness C0403554 267300 16 Feb 2016 Disease Renal tubular acidosis, autosomal dominant NCBI curation C4015898 16 Feb 2016 Disease Renal tubular acidosis, distal 16 Feb 2016 Disease Renal tubular acidosis, distal, autosomal recessive C1864498 602722 16 Feb 2016 Disease Renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss NCBI curation C1864499 16 Feb 2016 Disease Renal tubular acidosis, distal, type 4 16 Feb 2016 Disease Renal tubular acidosis, distal, with hemolytic anemia NCBI curation C1969038 611590 16 Feb 2016 Disease Renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies NCBI curation C1969055 611555 16 Feb 2016 Disease Renal tubular acidosis, distal, with normal red cell morphology NCBI curation C1969039 16 Feb 2016 Disease Renal tubular acidosis, distal, with progressive deafness NCBI curation C4016429 16 Feb 2016 Disease Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation NCBI curation C1970309 604278 26 May 2016 Disease Renal tubular dysfunction Human Phenotype Ontology C0151747 HP:0000124 16 Feb 2016 Finding Renal tubular dysgenesis due to twin-twin transfusion MONDO CN206914 MONDO:0019984 17 Apr 2020 Disease Renal tubular dysgenesis with choanal atresia and athelia NCBI curation 16 Feb 2016 Disease Renal tubular epithelial cell casts Human Phenotype Ontology C4531283 HP:0031198 04 Apr 2018 Finding Renal tubular lysine transport defect Human Phenotype Ontology C4024714 HP:0008272 16 Feb 2016 Finding Renal tubular transport disease MONDO C0035091 MONDO:0006510 17 Apr 2020 Disease Renal tubular transport disorders inborn 16 Feb 2016 Disease Renal tubulopathy, diabetes mellitus, and cerebellar ataxia NCBI curation C3151959 560000 24 Aug 2016 Disease Renal, genital, and middle ear anomalies NCBI curation C1849432 267400 16 Feb 2016 Disease Renal-hepatic-pancreatic dysplasia OMIM phenotypic series C2673883 PS208540 21 Jan 2020 Disease Renal-hepatic-pancreatic dysplasia 1 NCBI curation C3715199 208540 21 Jan 2020 Disease Renal-hepatic-pancreatic dysplasia 2 NCBI curation C3809434 615415 16 Feb 2016 Disease Renier-Gabreels-Jasper syndrome MONDO C4759781 MONDO:0019779 22 Apr 2020 Disease Renoanogenital syndrome 16 Feb 2016 Disease Renoprival hypertension 16 Feb 2016 Disease Renovascular hypertension Human Phenotype Ontology C0020545 HP:0100817 16 Feb 2016 Finding Renpenning syndrome 1 NCBI curation C0796135 309500 16 Feb 2016 Disease Reoviridae infectious disease MONDO C0035112 MONDO:0005939 04 Jun 2020 Infectious disease repeat number of microsatellite NCBI curation CN186682 16 Feb 2016 Finding Repeated pneumothoraces Human Phenotype Ontology C4025027 HP:0006522 16 Feb 2016 Finding Repetitive compulsive behavior Human Phenotype Ontology C1969697 HP:0008762 16 Feb 2016 Finding Repressor of telomerase expression 1 NCBI curation C1842633 608045 16 Feb 2016 Disease Reproductive system cancer MONDO C1334618 MONDO:0002149 17 Apr 2020 Disease Reproductive system disease MONDO C0178829 MONDO:0005039 17 Apr 2020 Disease Reproductive system neoplasm MONDO C0178830 MONDO:0006054 17 Apr 2020 Disease Residual stage angle-closure glaucoma MONDO C0154948 MONDO:0001864 17 Apr 2020 Disease Residual stage corticosteroid-induced glaucoma MONDO C0339580 MONDO:0004931 17 Apr 2020 Disease Residual stage of open angle glaucoma MONDO C0154944 MONDO:0001094 17 Apr 2020 Disease Resiniferatoxin C0073081 01 Nov 2018 Pharmacological response Resistance to activated protein C Human Phenotype Ontology C0600433 HP:0012175 16 Feb 2016 Finding resistance to anti-inflammatory treatment 13 Feb 2020 Finding Resistance to hepatitis C virus NCBI curation C1836031 16 Feb 2016 Disease Resistance to LH (luteinizing hormone) 16 Feb 2016 Disease Resistance to Plasmodium vivax infection NCBI curation CN071507 16 Feb 2016 Finding Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha MONDO CN262953 MONDO:0034216 17 Apr 2020 Disease Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta MONDO MONDO:0034217 17 Apr 2020 Disease Resistance to thyroid stimulating hormone 16 Feb 2016 Disease Resistance to thyrotropin-releasing hormone syndrome MONDO C4511136 MONDO:0020503 17 Apr 2020 Disease Resistant hypertension MONDO MONDO:0100078 17 Apr 2020 Disease Respiratory acidosis Human Phenotype Ontology C0001127 HP:0005972 16 Feb 2016 Finding Respiratory alkalosis Human Phenotype Ontology C0002064 HP:0001950 16 Feb 2016 Finding Respiratory arrest Human Phenotype Ontology C0162297 HP:0005943 16 Feb 2016 Finding Respiratory bronchiolitis-interstitial lung disease syndrome MONDO C1735355 MONDO:0019204 04 Jun 2020 Infectious disease Respiratory distress Human Phenotype Ontology C0476273 HP:0002098 16 Feb 2016 Finding Respiratory distress associated with prematurity 18 Oct 2019 Disease Respiratory distress syndrome in premature infants NCBI curation C1968593 267450 16 Feb 2016 Disease Respiratory distress syndrome in the newborn 16 Feb 2016 Disease Respiratory failure Human Phenotype Ontology C1145670 HP:0002878 16 Feb 2016 Finding Respiratory failure requiring assisted ventilation Human Phenotype Ontology C4025279 HP:0004887 16 Feb 2016 Finding respiratory failure/insufficiency/arrest 14 Mar 2019 Finding Respiratory infections in early life Human Phenotype Ontology C4025280 HP:0004880 16 Feb 2016 Finding Respiratory insufficiency Human Phenotype Ontology C0035229 HP:0002093 16 Feb 2016 Finding Respiratory insufficiency due to defective ciliary clearance Human Phenotype Ontology C3552099 HP:0200073 16 Feb 2016 Finding Respiratory insufficiency due to muscle weakness Human Phenotype Ontology C3806467 HP:0002747 16 Feb 2016 Finding Respiratory insufficiency with need for chronic mechanical ventilation in the sequence of an acute pharyngitis CN235370 02 Mar 2016 Finding Respiratory malformation MONDO CN226790 MONDO:0015930 17 Apr 2020 Disease Respiratory or mediastinal malformation MONDO CN227734 MONDO:0020023 17 Apr 2020 Disease Respiratory or thoracic malformation MONDO CN227727 MONDO:0020001 17 Apr 2020 Disease RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL OMIM CN263365 618803 618803 15 Mar 2020 Disease Respiratory paralysis Human Phenotype Ontology C0035232 HP:0002203 16 Feb 2016 Finding Respiratory rhythmicity in sleep NCBI curation C1836764 609116 16 Feb 2016 Disease respiratory syncytial virus infection C0035235 18 Jan 2019 Infectious disease Respiratory system benign neoplasm MONDO C0497556 MONDO:0000382 17 Apr 2020 Disease Respiratory system cancer MONDO C3164456 MONDO:0000376 17 Apr 2020 Disease Respiratory system disease MONDO MONDO:0005087 17 Apr 2020 Disease Respiratory tract infection Human Phenotype Ontology C0035243 HP:0011947 16 Feb 2016 Finding Respiratory tract infectious disease MONDO CN281880 MONDO:0024355 04 Jun 2020 Infectious disease Respiratory tract neoplasm MONDO MONDO:0020641 17 Apr 2020 Disease Respiratory underresponsiveness to hypoxia and hypercapnia NCBI curation C1849430 267480 16 Feb 2016 Disease respiratory weakness CN238838 27 Oct 2016 Finding Respirovirus infectious disease MONDO C3714630 MONDO:0005940 04 Jun 2020 Infectious disease Response to drugs acting on neuromuscular transmission Human Phenotype Ontology C4022582 HP:0030201 16 Feb 2016 Finding Resting heart rate NCBI curation C1821417 607276 16 Feb 2016 Disease Resting tremor Human Phenotype Ontology C0234379 HP:0002322 16 Feb 2016 Finding Restless legs Human Phenotype Ontology C0035258 HP:0012452 16 Feb 2016 Disease Restless legs syndrome 7 NCBI curation C2748506 612853 16 Feb 2016 Disease Restless legs syndrome, susceptibility to, 1 C1876177 102300 16 Feb 2016 Disease Restless legs syndrome, susceptibility to, 2 C1837285 608831 16 Feb 2016 Disease Restless legs syndrome, susceptibility to, 3 C1864875 610438 16 Feb 2016 Disease Restless legs syndrome, susceptibility to, 4 C1864874 610439 16 Feb 2016 Disease Restless legs syndrome, susceptibility to, 5 C1970010 611242 16 Feb 2016 Disease Restless legs syndrome, susceptibility to, 6 C1970020 611185 16 Feb 2016 Disease Restless legs syndrome, susceptibility to, 8 NCBI curation C3554664 615197 16 Feb 2016 Disease Restlessness Human Phenotype Ontology C3887611 HP:0000711 16 Feb 2016 Finding Restricted chest movement Human Phenotype Ontology C4025015 HP:0006596 16 Feb 2016 Finding Restricted flexion o f knee joints 11 May 2019 Finding Restricted large joint movement Human Phenotype Ontology C4025241 HP:0005193 16 Feb 2016 Finding restricted mobility 13 Feb 2020 Finding Restricted neck movement due to contractures Human Phenotype Ontology C1867006 HP:0005997 16 Feb 2016 Finding Restrictive behavior Human Phenotype Ontology C4021799 HP:0000723 16 Feb 2016 Finding Restrictive cardiomyopathy Human Phenotype Ontology C0007196 HP:0001723 20 Jul 2019 Disease Restrictive deficit on pulmonary function testing Human Phenotype Ontology C1609528 HP:0002111 02 Apr 2017 Finding Restrictive external ophthalmoplegia Human Phenotype Ontology C1865918 HP:0007936 16 Feb 2016 Finding Restrictive heart failure Human Phenotype Ontology C1832374 HP:0005130 16 Feb 2016 Finding Restrictive partial external ophthalmoplegia Human Phenotype Ontology C4024781 HP:0007867 16 Feb 2016 Finding Restrictive ventilatory defect Human Phenotype Ontology C3277226 HP:0002091 02 Apr 2017 Finding Restrictive ventricular septal defect Human Phenotype Ontology C0344924 HP:0011683 16 Feb 2016 Finding Retarded ejaculation Human Phenotype Ontology C0234047 HP:0012878 16 Feb 2016 Finding Retching 18 Jan 2019 Finding Rete ovarii adenocarcinoma MONDO C3840223 MONDO:0003191 17 Apr 2020 Disease Rete ovarii adenoma MONDO C1514905 MONDO:0004005 17 Apr 2020 Disease Rete ovarii cystadenofibroma MONDO C1514906 MONDO:0004006 17 Apr 2020 Disease Rete ovarii cystadenoma MONDO C1514907 MONDO:0003610 17 Apr 2020 Disease Rete ovarii neoplasm MONDO C1514909 MONDO:0003192 17 Apr 2020 Disease Rete ridge flattening Human Phenotype Ontology C4476597 HP:0025117 02 Apr 2017 Finding Rete testis adenocarcinoma MONDO C0863024 MONDO:0001992 17 Apr 2020 Disease Rete testis adenoma MONDO C1514910 MONDO:0003893 17 Apr 2020 Disease Rete testis neoplasm MONDO C1514912 MONDO:0003562 17 Apr 2020 Disease Reticular dysgenesis NCBI curation C0272167 267500 16 Feb 2016 Disease Reticular dystrophy of retinal pigment epithelium NCBI curation C1867332 179840 16 Feb 2016 Disease Reticular hyperpigmentation Human Phenotype Ontology C1851972 HP:0007588 16 Feb 2016 Finding Reticular pattern on pulmonary HRCT Human Phenotype Ontology C4476748 HP:0025390 04 Apr 2018 Finding Reticular pattern testicular yolk sac tumor MONDO C1515308 MONDO:0004547 17 Apr 2020 Disease Reticular perineurioma MONDO CN197319 MONDO:0015029 17 Apr 2020 Disease Reticular pigmentary degeneration Human Phenotype Ontology C4024769 HP:0007937 16 Feb 2016 Finding Reticular retinal dystrophy Human Phenotype Ontology C4024776 HP:0007913 16 Feb 2016 Finding Reticulate acropigmentation of Kitamura NCBI curation C0406811 615537 16 Feb 2016 Disease Reticulate pigment disorder NCBI curation CN263174 20 Jan 2020 Disease Reticulate pigmentation of oral mucosa Human Phenotype Ontology C1852148 HP:0012788 16 Feb 2016 Finding Reticulated skin pigmentation Human Phenotype Ontology C3279575 HP:0007427 16 Feb 2016 Finding Reticulocytopenia Human Phenotype Ontology C0858867 HP:0001896 16 Feb 2016 Finding Reticulocytosis Human Phenotype Ontology C0206160 HP:0001923 16 Feb 2016 Finding Reticuloendotheliosis, avian MONDO C0276487 MONDO:0025167 17 Apr 2020 Disease Reticuloendotheliosis, X-linked MONDO C0035288 MONDO:0010721 312500 17 Apr 2020 Disease Reticulohistiocytic granuloma MONDO C0035290 MONDO:0002984 17 Apr 2020 Disease Reticulonodular pattern on pulmonary HRCT Human Phenotype Ontology C4476751 HP:0025393 04 Apr 2018 Finding Reticulum cell sarcoma NCBI curation C0024302 267730 16 Feb 2016 Disease Retiform hemangioendothelioma MONDO C1304512 MONDO:0018713 17 Apr 2020 Disease Retina lymphoma MONDO C0339556 MONDO:0004349 17 Apr 2020 Disease Retina neoplasm MONDO MONDO:0021231 17 Apr 2020 Disease Retinal aplasia NCBI curation C1867331 179900 16 Feb 2016 Disease Retinal arterial macroaneurysm with supravalvular pulmonic stenosis NCBI curation C3280205 614224 16 Feb 2016 Disease Retinal arterial macroaneurysm with supravascular pulmonic stenosis NCBI curation C4016816 26 May 2016 Disease Retinal arterial macroaneurysms Human Phenotype Ontology C0423402 HP:0025355 02 Apr 2017 Finding Retinal arterial occlusion Human Phenotype Ontology C0035302 HP:0025326 02 Apr 2017 Finding Retinal arterial tortuosity Human Phenotype Ontology C0423401 HP:0000631 16 Feb 2016 Finding Retinal arteries, tortuosity of NCBI curation C1867327 180000 05 Jun 2016 Disease Retinal arteriolar constriction Human Phenotype Ontology C2176208 HP:0008043 16 Feb 2016 Finding Retinal arteriolar occlusion Human Phenotype Ontology C4024761 HP:0007985 16 Feb 2016 Finding Retinal arteriolar tortuosity Human Phenotype Ontology C1843517 HP:0001136 16 Feb 2016 Finding Retinal arteritis Human Phenotype Ontology C0271069 HP:0008030 16 Feb 2016 Finding Retinal astrocytic hamartoma Human Phenotype Ontology C4022725 HP:0012778 16 Feb 2016 Finding Retinal atrophy Human Phenotype Ontology C0521694 HP:0001105 16 Feb 2016 Finding Retinal calcification Human Phenotype Ontology C1867289 HP:0007862 16 Feb 2016 Finding Retinal capillary hemangioma Human Phenotype Ontology C0730303 HP:0009711 16 Feb 2016 Finding Retinal cavernous angioma Human Phenotype Ontology C0730304 HP:0011513 16 Feb 2016 Finding Retinal cavernous hemangioma Human Phenotype Ontology CN231916 HP:0030508 16 Feb 2016 Finding Retinal cell cancer MONDO MONDO:0004338 17 Apr 2020 Disease Retinal cell neoplasm MONDO C1335765 MONDO:0024341 17 Apr 2020 Disease Retinal ciliopathy MONDO CN261058 MONDO:0022410 17 Apr 2020 Disease Retinal ciliopathy due to mutation in bardet-biedl gene MONDO CN262065 MONDO:0022407 17 Apr 2020 Disease Retinal ciliopathy due to mutation in nephronophthisis gene MONDO CN262067 MONDO:0022405 17 Apr 2020 Disease Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene NCBI curation CN244561 30 Apr 2018 Disease Retinal ciliopathy due to mutation in the rpgr gene MONDO CN261560 MONDO:0022399 17 Apr 2020 Disease Retinal ciliopathy due to mutation in the rpgrip gene MONDO CN261561 MONDO:0022400 17 Apr 2020 Disease Retinal ciliopathy due to mutation in usher gene MONDO CN262066 MONDO:0022404 17 Apr 2020 Disease Retinal coloboma Human Phenotype Ontology C3540764 HP:0000480 16 Feb 2016 Finding Retinal cone dystrophy 3A C1864900 610024 16 Feb 2016 Disease Retinal cone dystrophy 4 C1864849 610478 16 Feb 2016 Disease Retinal cone dystrophy type 1 MONDO C1867326 MONDO:0008374 180020 22 Apr 2020 Disease Retinal cotton wool spot Human Phenotype Ontology C0271053 HP:0031606 04 Apr 2018 Finding Retinal crystals Human Phenotype Ontology C4072992 HP:0030507 16 Feb 2016 Finding Retinal degeneration Human Phenotype Ontology C0035304 HP:0000546 16 Feb 2016 Disease Retinal degeneration and epilepsy NCBI curation C1849416 267740 16 Feb 2016 Disease Retinal degeneration, autosomal recessive, clumped pigment type NCBI curation C1834330 16 Feb 2016 Disease Retinal degeneration-nanophthalmos-glaucoma syndrome MONDO C2931831 MONDO:0009978 267760 17 Apr 2020 Disease Retinal detachment Human Phenotype Ontology C0035305 HP:0000541 180050 16 Feb 2016 Disease Retinal drusen MONDO C0035312 MONDO:0006949 17 Apr 2020 Disease Retinal dysplasia Human Phenotype Ontology C0035313 HP:0007973 16 Feb 2016 Finding Retinal dysplasia X-linked 16 Feb 2016 Disease Retinal dysplasia, primary NCBI curation C3887971 312550 16 Feb 2016 Disease Retinal dystrophies primarily involving Bruch's membrane MONDO MONDO:0001666 17 Apr 2020 Disease Retinal dystrophy Human Phenotype Ontology C0854723 HP:0000556 16 Feb 2016 Disease Retinal dystrophy and iris coloboma with or without congenital cataract NCBI curation C4225233 616722 16 Feb 2016 Disease Retinal dystrophy and obesity NCBI curation C4015424 616188 16 Feb 2016 Disease Retinal dystrophy in systemic or cerebroretinal lipidoses MONDO MONDO:0001925 17 Apr 2020 Disease RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES 02 Nov 2016 Disease Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities NCBI curation C4015146 616079 16 Feb 2016 Disease RETINAL DYSTROPHY WITH LEUKODYSTROPHY OMIM CN280859 618863 618863 30 Apr 2020 Disease Retinal dystrophy with or without extraocular anomalies NCBI curation C4310680 617175 20 Jun 2017 Disease RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA OMIM C4479651 617547 617547 25 Jun 2017 Disease Retinal dystrophy, early-onset severe NCBI curation C1858080 16 Feb 2016 Disease RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED C2750064 16 Feb 2016 Disease Retinal dystrophy, early-onset, with or without pituitary dysfunction NCBI curation CN230179 16 Feb 2016 Disease Retinal dystrophy, iris coloboma, and comedogenic acne syndrome NCBI curation C3554593 615147 16 Feb 2016 Disease Retinal dystrophy, juvenile cataracts, and short stature syndrome NCBI curation C4015242 616108 16 Feb 2016 Disease Retinal dystrophy, reticular pigmentary, of posterior pole NCBI curation C1849407 267800 16 Feb 2016 Disease Retinal edema MONDO C0242420 MONDO:0004037 17 Apr 2020 Disease Retinal exudate Human Phenotype Ontology C0240897 HP:0001147 16 Feb 2016 Finding Retinal flecks Human Phenotype Ontology C0423414 HP:0012045 16 Feb 2016 Finding Retinal fold Human Phenotype Ontology C0229197 HP:0008052 16 Feb 2016 Finding Retinal folds with exudation CN232382 16 Feb 2016 Finding Retinal hamartoma Human Phenotype Ontology C1863411 HP:0009594 16 Feb 2016 Finding Retinal hemorrhage Human Phenotype Ontology C0035317 HP:0000573 16 Feb 2016 Finding Retinal hole Human Phenotype Ontology C4551442 HP:0011530 16 Feb 2016 Finding Retinal infarction Human Phenotype Ontology C0281967 HP:0007866 16 Feb 2016 Finding Retinal ischemia MONDO C0162291 MONDO:0001538 17 Apr 2020 Disease Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome MONDO C1848590 MONDO:0010177 277175 17 Apr 2020 Disease Retinal Macular Dystrophy CN239469 02 Dec 2016 Disease Retinal melanoma MONDO C0853394 MONDO:0004561 17 Apr 2020 Disease Retinal microaneurysm MONDO C0154834 MONDO:0001257 17 Apr 2020 Disease Retinal neoplasm Human Phenotype Ontology C0524801 HP:0012777 16 Feb 2016 Finding Retinal neovascularization Human Phenotype Ontology C0035320 HP:0030666 02 Apr 2017 Finding Retinal nerve fibre layer disorder MONDO C3665426 MONDO:0003579 17 Apr 2020 Disease Retinal neuroblastoma MONDO MONDO:0024340 17 Apr 2020 Disease Retinal nonattachment Human Phenotype Ontology C4021563 HP:0007899 16 Feb 2016 Finding Retinal perforation Human Phenotype Ontology C0035321 HP:0011958 16 Feb 2016 Finding Retinal pigment epithelial atrophy Human Phenotype Ontology C1840457 HP:0007722 16 Feb 2016 Finding Retinal pigment epithelial loss on macular OCT Human Phenotype Ontology C4073081 HP:0030611 16 Feb 2016 Finding Retinal pigment epithelial mottling Human Phenotype Ontology C1857644 HP:0007814 16 Feb 2016 Finding Retinal racemose hemangioma Human Phenotype Ontology C4072993 HP:0030509 16 Feb 2016 Finding Retinal telangiectasia Human Phenotype Ontology C0154835 HP:0007763 16 Feb 2016 Finding Retinal telangiectasia and hypogammaglobulinemia NCBI curation C2930961 267900 16 Feb 2016 Disease Retinal telangiectasia hypogammaglobulinemia 16 Feb 2016 Disease Retinal thinning Human Phenotype Ontology C3549703 HP:0030329 16 Feb 2016 Finding Retinal vascular disease MONDO C0154833 MONDO:0002311 17 Apr 2020 Disease Retinal vascular dystrophy 19 Jul 2019 Disease Retinal vascular malformation Human Phenotype Ontology C1861791 HP:0007797 16 Feb 2016 Finding Retinal vascular occlusion MONDO C0035326 MONDO:0002089 17 Apr 2020 Disease Retinal vascular proliferation Human Phenotype Ontology C4551695 HP:0007850 16 Feb 2016 Finding Retinal vascular tortuosity Human Phenotype Ontology C1860475 HP:0012841 16 Feb 2016 Finding Retinal vasculitis Human Phenotype Ontology C0152026 HP:0025188 02 Apr 2017 Finding Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations MONDO C1860518 MONDO:0008641 192315 22 Apr 2020 Disease Retinal vein occlusion Human Phenotype Ontology C0035328 HP:0012636 16 Feb 2016 Finding Retinal venous beading NCBI curation C2939143 180080 16 Feb 2016 Disease Retinis pigmentosa deafness hypogenitalism 16 Feb 2016 Disease Retinitis MONDO C0035333 MONDO:0002708 17 Apr 2020 Disease Retinitis pigmentosa OMIM phenotypic series C0035334 PS268000 268000 16 Feb 2016 Disease Retinitis pigmentosa 1 C0220701 180100 16 Feb 2016 Disease Retinitis pigmentosa 10 NCBI curation C1867299 180105 16 Feb 2016 Disease Retinitis pigmentosa 11 NCBI curation C1838601 600138 16 Feb 2016 Disease Retinitis pigmentosa 12 C1838647 600105 16 Feb 2016 Disease Retinitis pigmentosa 13 NCBI curation C1838702 600059 16 Feb 2016 Disease Retinitis pigmentosa 14 NCBI curation C1838603 600132 16 Feb 2016 Disease Retinitis pigmentosa 15 NCBI curation C1845667 300029 16 Feb 2016 Disease Retinitis pigmentosa 17 NCBI curation C1833245 600852 16 Feb 2016 Disease Retinitis pigmentosa 18 NCBI curation C1832378 601414 16 Feb 2016 Disease Retinitis pigmentosa 19 NCBI curation C1866422 601718 16 Feb 2016 Disease Retinitis pigmentosa 2 NCBI curation C2681923 312600 16 Feb 2016 Disease Retinitis pigmentosa 20 NCBI curation C3151086 613794 16 Feb 2016 Disease Retinitis Pigmentosa 22 C3887981 602594 16 Feb 2016 Disease Retinitis Pigmentosa 23 C1419610 300424 16 Feb 2016 Disease Retinitis Pigmentosa 24 C3887982 300155 16 Feb 2016 Disease Retinitis pigmentosa 25 NCBI curation C1864446 602772 16 Feb 2016 Disease Retinitis pigmentosa 26 NCBI curation C1842127 608380 16 Feb 2016 Disease Retinitis pigmentosa 27 NCBI curation C1834329 613750 16 Feb 2016 Disease Retinitis pigmentosa 28 NCBI curation C1419614 606068 16 Feb 2016 Disease Retinitis pigmentosa 29 C2677325 612165 16 Feb 2016 Disease Retinitis pigmentosa 30 NCBI curation C1842816 607921 16 Feb 2016 Disease Retinitis pigmentosa 31 NCBI curation C1835923 609923 16 Feb 2016 Disease Retinitis Pigmentosa 32 C1835927 609913 16 Feb 2016 Disease Retinitis pigmentosa 33 NCBI curation C1835895 610359 16 Feb 2016 Disease Retinitis Pigmentosa 34 C1845104 300605 16 Feb 2016 Disease Retinitis pigmentosa 35 NCBI curation C1853214 610282 16 Feb 2016 Disease Retinitis pigmentosa 36 NCBI curation C1864621 610599 16 Feb 2016 Disease Retinitis pigmentosa 37 NCBI curation C1970163 611131 25 May 2016 Disease Retinitis pigmentosa 38 NCBI curation C3151228 613862 16 Feb 2016 Disease Retinitis pigmentosa 39 NCBI curation C3151138 613809 16 Feb 2016 Disease Retinitis pigmentosa 4 NCBI curation C3151001 613731 16 Feb 2016 Disease Retinitis pigmentosa 4, autosomal recessive NCBI curation C4016366 27 Feb 2018 Disease Retinitis pigmentosa 40 NCBI curation C3151107 613801 16 Feb 2016 Disease Retinitis pigmentosa 41 NCBI curation C2677516 612095 16 Feb 2016 Disease Retinitis pigmentosa 42 NCBI curation C2751986 612943 16 Feb 2016 Disease Retinitis pigmentosa 43 NCBI curation C3151139 613810 16 Feb 2016 Disease Retinitis pigmentosa 44 NCBI curation C3151068 613769 16 Feb 2016 Disease Retinitis pigmentosa 45 NCBI curation C3151066 613767 16 Feb 2016 Disease Retinitis pigmentosa 46 NCBI curation C2675496 612572 16 Feb 2016 Disease Retinitis pigmentosa 47 NCBI curation C3151061 613758 16 Feb 2016 Disease Retinitis pigmentosa 48 NCBI curation C3151190 613827 16 Feb 2016 Disease Retinitis pigmentosa 49 NCBI curation C3151059 613756 16 Feb 2016 Disease Retinitis pigmentosa 50 NCBI curation C2750788 613194 16 Feb 2016 Disease Retinitis pigmentosa 51 NCBI curation C3150715 613464 16 Feb 2016 Disease Retinitis pigmentosa 53 NCBI curation C3150208 16 Feb 2016 Disease Retinitis pigmentosa 54 NCBI curation C3150691 613428 16 Feb 2016 Disease Retinitis pigmentosa 55 NCBI curation C3150808 613575 16 Feb 2016 Disease Retinitis pigmentosa 56 NCBI curation C3150819 613581 16 Feb 2016 Disease Retinitis pigmentosa 57 NCBI curation C3150821 613582 16 Feb 2016 Disease Retinitis pigmentosa 58 NCBI curation C3150879 613617 16 Feb 2016 Disease Retinitis pigmentosa 59 NCBI curation C3151227 613861 16 Feb 2016 Disease Retinitis Pigmentosa 6 C1839368 312612 16 Feb 2016 Disease Retinitis pigmentosa 60 NCBI curation C3151434 613983 16 Feb 2016 Disease Retinitis pigmentosa 61 NCBI curation C3280041 614180 16 Feb 2016 Disease Retinitis pigmentosa 62 NCBI curation C3280042 614181 16 Feb 2016 Disease Retinitis pigmentosa 63 NCBI curation C3281002 614494 16 Feb 2016 Disease Retinitis pigmentosa 64 NCBI curation C3281046 16 Feb 2016 Disease Retinitis pigmentosa 65 NCBI curation C3552852 16 Feb 2016 Disease Retinitis pigmentosa 66 NCBI curation C3715216 615233 16 Feb 2016 Disease Retinitis pigmentosa 67 NCBI curation C3809954 615565 16 Feb 2016 Disease Retinitis pigmentosa 68 NCBI curation C3810380 615725 16 Feb 2016 Disease Retinitis pigmentosa 69 NCBI curation C4014312 615780 16 Feb 2016 Disease Retinitis pigmentosa 7 NCBI curation C1842475 608133 16 Feb 2016 Disease Retinitis pigmentosa 7 and digenic form CN260075 19 Jun 2019 Disease Retinitis pigmentosa 7 with bull's-eye maculopathy NCBI curation C2675553 16 Feb 2016 Disease Retinitis pigmentosa 7, digenic NCBI curation C2675552 16 Feb 2016 Disease Retinitis pigmentosa 7, digenic form CN260067 19 Jun 2019 Disease Retinitis pigmentosa 70 NCBI curation C4014681 615922 16 Feb 2016 Disease Retinitis pigmentosa 71 NCBI curation C4225342 616394 16 Feb 2016 Disease Retinitis pigmentosa 72 NCBI curation C4225315 616469 16 Feb 2016 Disease Retinitis pigmentosa 73 NCBI curation C4225287 616544 16 Oct 2016 Disease Retinitis pigmentosa 74 NCBI curation C4225281 616562 16 Feb 2016 Disease Retinitis pigmentosa 75 NCBI curation C4310759 617023 24 Aug 2016 Disease Retinitis pigmentosa 76 NCBI curation C4310704 617123 20 Jun 2017 Disease Retinitis pigmentosa 77 NCBI curation C4310626 617304 20 Jun 2017 Disease Retinitis pigmentosa 78 NCBI curation C4479481 617433 20 Jun 2017 Disease Retinitis pigmentosa 79 NCBI curation C4479526 617460 20 Jun 2017 Disease Retinitis pigmentosa 80 NCBI curation C4540439 617781 08 Mar 2019 Disease Retinitis pigmentosa 81 NCBI curation C4693443 617871 08 Mar 2019 Disease Retinitis pigmentosa 82 with or without situs inversus NCBI curation C4747737 615434 08 Mar 2019 Disease Retinitis pigmentosa 83 NCBI curation C4748536 618173 08 Mar 2019 Disease Retinitis pigmentosa 84 NCBI curation C4748725 618220 08 Mar 2019 Disease Retinitis pigmentosa 85 NCBI curation C5193041 618345 08 Mar 2019 Disease RETINITIS PIGMENTOSA 86 OMIM C5231428 618613 618613 05 Oct 2019 Disease RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT OMIM C5231465 618697 618697 13 Dec 2019 Disease RETINITIS PIGMENTOSA 88 OMIM CN263396 618826 618826 28 Mar 2020 Disease Retinitis pigmentosa 9 NCBI curation C1867300 180104 16 Feb 2016 Disease Retinitis pigmentosa and erythrocytic microcytosis NCBI curation C4310776 616959 05 Jul 2016 Disease Retinitis pigmentosa in ciliopathies, modifier of NCBI curation 16 Feb 2016 Disease Retinitis pigmentosa inversa Human Phenotype Ontology C4021559 HP:0008035 16 Feb 2016 Finding Retinitis pigmentosa inversa with deafness NCBI curation C1849405 268010 16 Feb 2016 Disease Retinitis pigmentosa with or without situs inversus CN260068 19 Jun 2019 Disease Retinitis pigmentosa with or without skeletal anomalies NCBI curation C1855188 250410 20 Jun 2017 Disease Retinitis pigmentosa without situs inversus CN235432 26 May 2016 Disease Retinitis pigmentosa, concentric NCBI curation C2750789 16 Feb 2016 Disease Retinitis Pigmentosa, Dominant CN239354 02 Dec 2016 Disease Retinitis Pigmentosa, Dominant/Recessive CN239431 02 Dec 2016 Disease Retinitis pigmentosa, juvenile CN260077 19 Jun 2019 Disease Retinitis pigmentosa, juvenile, autosomal recessive CN260076 19 Jun 2019 Disease RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED C2750065 16 Feb 2016 Disease Retinitis pigmentosa, late-adult onset NCBI curation C1849400 268025 16 Feb 2016 Disease Retinitis Pigmentosa, Recessive CN239466 02 Dec 2016 Disease Retinitis pigmentosa, X-linked, and sinorespiratory infections, with deafness NCBI curation C4016579 26 May 2016 Disease Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness NCBI curation C2749137 300455 16 Feb 2016 Disease Retinitis pigmentosa, Y-linked NCBI curation C1839079 400004 16 Feb 2016 Disease Retinitis pigmentosa-deafness syndrome NCBI curation CN033130 500004 16 Feb 2016 Disease Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome MONDO C4540367 MONDO:0044634 617763 17 Apr 2020 Disease Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome MONDO C1849401 MONDO:0009983 268020 17 Apr 2020 Disease Retinitis punctata albescens NCBI curation C1405854 16 Feb 2016 Disease Retinitis punctata albescens, autosomal dominant NCBI curation C4016358 16 Feb 2016 Disease Retinoblastoma Human Phenotype Ontology C0035335 HP:0009919 180200 16 Feb 2016 Disease Retinoblastoma, trilateral NCBI curation C2608045 16 Feb 2016 Disease Retinohepatoendocrinologic syndrome C1849399 268040 16 Feb 2016 Disease Retinol-binding protein deficiency NCBI curation C1867237 16 Feb 2016 Disease Retinopathies NCBI curation CN282531 16 Feb 2016 Disease Retinopathy Human Phenotype Ontology C0035309 HP:0000488 16 Feb 2016 Finding Retinopathy anemia CNS anomalies 16 Feb 2016 Disease Retinopathy aplastic anemia neurological abnormalities 16 Feb 2016 Disease Retinopathy of prematurity C0035344 16 Feb 2016 Disease Retinopathy, arteriosclerotic 16 Feb 2016 Disease Retinopathy, pericentral pigmentary, dominant NCBI curation C1867261 180210 16 Feb 2016 Disease Retinopathy, pigmentary, and mental retardation MONDO C0796072 MONDO:0009986 268050 22 Apr 2020 Disease Retinoschisis Human Phenotype Ontology C0152439 HP:0030502 16 Feb 2016 Finding Retinoschisis of Fovea C1849397 268080 16 Feb 2016 Disease Retinoschisis with early hemeralopia NCBI curation 16 Feb 2016 Disease Retinoschisis, autosomal dominant MONDO C1867235 MONDO:0008382 180270 22 Apr 2020 Disease Retractile testis Human Phenotype Ontology C0520578 HP:0012646 16 Feb 2016 Finding Retrobulbar optic neuritis Human Phenotype Ontology C0085582 HP:0100654 16 Feb 2016 Finding Retrocerebellar cyst Human Phenotype Ontology C1845370 HP:0006951 16 Feb 2016 Finding Retrocerebellar cyst (disease) MONDO MONDO:0017106 17 Apr 2020 Disease Retrocochlear disease MONDO C0035352 MONDO:0002453 17 Apr 2020 Disease Retrocollis Human Phenotype Ontology C3887667 HP:0002544 16 Feb 2016 Finding Retrognathia Human Phenotype Ontology C3494422 HP:0000278 16 Feb 2016 Finding Retrograde amnesia MONDO C0002624 MONDO:0003040 17 Apr 2020 Disease Retrograde ejaculation Human Phenotype Ontology C0403673 HP:0012877 16 Feb 2016 Finding Retromacular fibrosis 25 Oct 2017 Finding Retromolar area cancer MONDO MONDO:0004682 17 Apr 2020 Disease Retroperitoneal cancer MONDO MONDO:0005941 17 Apr 2020 Disease Retroperitoneal chemodectomas Human Phenotype Ontology C4024987 HP:0006729 16 Feb 2016 Finding Retroperitoneal germ cell neoplasm MONDO C1335776 MONDO:0003685 17 Apr 2020 Disease Retroperitoneal hemangiopericytoma MONDO C1335777 MONDO:0003412 17 Apr 2020 Disease Retroperitoneal inflammatory myofibroblastic tumor MONDO C1514921 MONDO:0006398 17 Apr 2020 Disease Retroperitoneal leiomyosarcoma MONDO C2187547 MONDO:0003370 17 Apr 2020 Disease Retroperitoneal liposarcoma 16 Feb 2016 Disease Retroperitoneal lymphoma MONDO C1335779 MONDO:0001499 17 Apr 2020 Disease Retroperitoneal neoplasm MONDO C0035358 MONDO:0024645 17 Apr 2020 Disease Retroperitoneal neuroblastoma MONDO MONDO:0000551 17 Apr 2020 Disease Retroperitoneal sarcoma MONDO C0585129 MONDO:0001501 17 Apr 2020 Disease Retroperitoneum carcinoma MONDO C0948749 MONDO:0001502 17 Apr 2020 Disease Rett syndrome Orphanet C0035372 ORPHA778 312750 16 Feb 2016 Disease Rett syndrome, congenital variant NCBI curation C3150705 613454 16 Feb 2016 Disease Rett syndrome, preserved speech variant NCBI curation C1839332 16 Feb 2016 Disease Rett syndrome, zappella variant NCBI curation C2677682 16 Feb 2016 Disease Rett-like phenotype 13 Nov 2017 Finding Reunion island Larsen syndrome MONDO C5190992 MONDO:0017413 17 Apr 2020 Disease Reunion variant NCBI curation 16 Feb 2016 Disease Reversed usual vertebral column curves Human Phenotype Ontology C4024676 HP:0008433 16 Feb 2016 Finding Reversible cerebral vasoconstriction syndrome MONDO C3544214 MONDO:0017291 17 Apr 2020 Disease Reversible renal failure Human Phenotype Ontology C1843276 HP:0004713 16 Feb 2016 Finding Revesz syndrome C1327916 268130 16 Feb 2016 Disease Reye syndrome C0035400 16 Feb 2016 Disease Reye syndrome-like episodes Human Phenotype Ontology C1850413 HP:0006582 16 Feb 2016 Finding Reynolds Neri Hermann syndrome 16 Feb 2016 Disease Reynolds syndrome C0748397 613471 16 Feb 2016 Disease RFT1 related CDG 26 Jun 2018 Disease RH C/c POLYMORPHISM 16 Feb 2016 Disease Rh deficiency syndrome NCBI curation 16 Feb 2016 Disease RH E/e POLYMORPHISM 16 Feb 2016 Disease Rh isoimmunization MONDO C0035404 MONDO:0006953 17 Apr 2020 Disease Rh-mod syndrome NCBI curation 16 Feb 2016 Disease Rh-null disease NCBI curation 16 Feb 2016 Disease Rh-null disease, amorph type NCBI curation C1862196 16 Feb 2016 Disease Rh-null hemolytic anemia, regulator type NCBI curation C4016364 16 Feb 2016 Disease RH-NULL, AMORPH TYPE OMIM C4693796 617970 617970 16 May 2018 Disease Rh-null, regulator type NCBI curation C1849387 268150 16 Feb 2016 Disease Rhabditida Infections 16 Feb 2016 Disease Rhabditida infectious disease MONDO C0162631 MONDO:0005943 04 Jun 2020 Infectious disease Rhabdoid meningioma MONDO C0259786 MONDO:0003262 17 Apr 2020 Disease Rhabdoid tumor C0206743 26 Dec 2016 Disease Rhabdoid tumor of the kidney MONDO C0854917 MONDO:0002729 17 Apr 2020 Disease Rhabdoid tumor predisposition syndrome 1 NCBI curation C1836327 609322 16 Feb 2016 Disease Rhabdoid tumor predisposition syndrome 2 NCBI curation C2750074 613325 16 Feb 2016 Disease Rhabdoid tumors, somatic CN259074 14 Jun 2019 Disease Rhabdomyolysis PharmGKB C0035410 18 May 2016 Disease Rhabdomyolysis Human Phenotype Ontology C0035410 HP:0003201 18 May 2016 Disease Rhabdomyolysis (disease) MONDO MONDO:0005290 17 Apr 2020 Disease Rhabdomyolysis, cerivastatin-induced NCBI curation C1832733 16 Feb 2016 Disease Rhabdomyoma Human Phenotype Ontology C0035411 HP:0009730 16 Feb 2016 Finding Rhabdomyomatous dysplasia cardiopathy genital anomalies 16 Feb 2016 Disease Rhabdomyomatous mesenchymal hamartoma 16 Feb 2016 Disease Rhabdomyosarcoma (disease) MONDO C0035412 MONDO:0005212 17 Apr 2020 Disease Rhabdomyosarcoma 1 NCBI curation C1849385 268210 16 Feb 2016 Disease Rhabdomyosarcoma of the cervix uteri MONDO C4289809 MONDO:0016282 17 Apr 2020 Disease Rhabdomyosarcoma with mixed embryonal and alveolar features MONDO C1709053 MONDO:0002863 17 Apr 2020 Disease Rhabdomyosarcoma, embryonal, 2 NCBI curation C1867234 180295 16 Feb 2016 Disease Rhabdomyosarcoma, somatic NCBI curation C4016802 16 Feb 2016 Disease Rhabdoviridae infectious disease MONDO C0206751 MONDO:0005944 04 Jun 2020 Infectious disease RhD category D-VII NCBI curation C4015919 25 Aug 2017 Disease RHD DEL 20 Jul 2017 Finding RhD negative NCBI curation C4551754 20 Jul 2017 Finding Rhd, weak d, type I NCBI curation C4015920 20 May 2018 Disease RHD-NEGATIVE POLYMORPHISM 16 Feb 2016 Disease Rhegmatogenous retinal detachment Human Phenotype Ontology C0271055 HP:0012230 16 Feb 2016 Finding Rhegmatogenous retinal detachment, autosomal dominant NCBI curation C1836081 16 Feb 2016 Disease Rheumatic congestive heart failure MONDO C0155582 MONDO:0001899 17 Apr 2020 Disease Rheumatic disease of mitral valve MONDO C0264765 MONDO:0042967 17 Apr 2020 Disease Rheumatic Fever C0035436 16 Feb 2016 Infectious disease Rheumatic heart disease MONDO C0035439 MONDO:0006955 17 Apr 2020 Disease Rheumatic myocarditis MONDO C0155557 MONDO:0004582 17 Apr 2020 Disease Rheumatic pericarditis MONDO C0264747 MONDO:0024655 17 Apr 2020 Disease Rheumatic pulmonary valve disease MONDO C0155579 MONDO:0003627 17 Apr 2020 Disease Rheumatoid arthritis Human Phenotype Ontology C0003873 HP:0001370 180300 22 Jul 2019 Disease Rheumatoid arthritis, progression of NCBI curation C1736175 16 Feb 2016 Disease Rheumatoid arthritis, systemic juvenile NCBI curation C1858558 604302 16 Feb 2016 Disease Rheumatoid arthritis, systemic juvenile, susceptibility to NCBI curation 16 Feb 2016 Disease Rheumatoid factor positive Human Phenotype Ontology C0151379 HP:0002923 16 Feb 2016 Finding rheumatoid factor seropositive 01 Oct 2018 Finding Rheumatoid factor-negative juvenile idiopathic arthritis MONDO CN206189 MONDO:0019432 17 Apr 2020 Disease Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies MONDO CN201825 MONDO:0016617 17 Apr 2020 Disease Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies MONDO CN201826 MONDO:0016618 17 Apr 2020 Disease Rheumatoid lung disease MONDO C0994344 MONDO:0004586 17 Apr 2020 Disease Rheumatoid nodulosis NCBI curation C0035450 180350 16 Feb 2016 Disease Rheumatoid vasculitis C0240903 16 Feb 2016 Disease Rheumatologic disorder MONDO C0009326 MONDO:0005554 17 Apr 2020 Disease Rheumatology CN282572 17 Jun 2020 Pharmacological response Rhinitis Human Phenotype Ontology C0035455 HP:0012384 16 Feb 2016 Finding Rhinoconjunctivitis, susceptibility to NCBI curation 16 Feb 2016 Disease Rhinophyma MONDO C0035466 MONDO:0043777 17 Apr 2020 Disease Rhinorrhea Human Phenotype Ontology C1260880 HP:0031417 04 Apr 2018 Finding Rhinoscleroma MONDO C0035468 MONDO:0005945 04 Jun 2020 Infectious disease Rhinosporidiosis MONDO C0035469 MONDO:0005946 04 Jun 2020 Infectious disease Rhiny NCBI curation C1867222 180360 16 Feb 2016 Disease Rhizo-meso-acromelic limb shortening Human Phenotype Ontology C2673654 HP:0005069 16 Feb 2016 Finding Rhizomelia Human Phenotype Ontology C1866730 HP:0008905 16 Feb 2016 Finding Rhizomelic arm shortening Human Phenotype Ontology C1969532 HP:0004991 16 Feb 2016 Finding Rhizomelic chondrodysplasia punctata OMIM phenotypic series C0282529 PS215100 16 Feb 2016 Disease Rhizomelic chondrodysplasia punctata type 1 C1859133 215100 16 Feb 2016 Disease Rhizomelic chondrodysplasia punctata type 2 C1857242 222765 16 Feb 2016 Disease Rhizomelic chondrodysplasia punctata type 3 NCBI curation C1838612 600121 16 Feb 2016 Disease Rhizomelic chondrodysplasia punctata type 5 NCBI curation C4225237 616716 16 Feb 2016 Disease Rhizomelic dysplasia, Patterson-Lowry type MONDO C1832359 MONDO:0011079 601438 22 Apr 2020 Disease Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa C1853197 610319 16 Feb 2016 Disease Rhizomelic leg shortening Human Phenotype Ontology C4023039 HP:0012106 16 Feb 2016 Finding RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES OMIM CN263374 618821 618821 22 Mar 2020 Disease Rhizomelic pseudopolyarthritis 16 Feb 2016 Disease Rhizomelic syndrome, Urbach type MONDO C1849382 MONDO:0009996 268250 17 Apr 2020 Disease Rhomboid or triangular shaped 5th finger distal phalanx Human Phenotype Ontology C4024408 HP:0009379 16 Feb 2016 Finding Rhomboid or triangular shaped 5th finger middle phalanx Human Phenotype Ontology C4021616 HP:0005910 16 Feb 2016 Finding Rhomboid or triangular shaped 5th finger proximal phalanx Human Phenotype Ontology C4024509 HP:0009236 16 Feb 2016 Finding Rhonchi Human Phenotype Ontology C0035508 HP:0030831 02 Apr 2017 Finding RHYNS syndrome C1865794 602152 16 Feb 2016 Disease Rib anomaly CN233173 16 Feb 2016 Finding Rib exostoses Human Phenotype Ontology C1835579 HP:0000896 16 Feb 2016 Finding Rib fusion Human Phenotype Ontology C0265695 HP:0000902 16 Feb 2016 Finding Rib gap Human Phenotype Ontology C0426827 HP:0030280 16 Feb 2016 Finding Rib segmentation abnormalities Human Phenotype Ontology C1968999 HP:0006655 16 Feb 2016 Finding Ribavirin response NCBI curation CN184129 16 Feb 2016 Pharmacological response ribavirin response - Efficacy PharmGKB CN240603 1183680546 17 Feb 2017 Pharmacological response ribavirin response - Toxicity/ADR PharmGKB CN236618 1446905703 18 May 2016 Pharmacological response Ribbing disease C1832273 601477 16 Feb 2016 Disease Ribbonlike corneal degeneration Human Phenotype Ontology C4021894 HP:0200066 16 Feb 2016 Finding Ribosomal protein l21 pseudogene 1 NCBI curation C1863884 603416 24 Aug 2016 Disease Richards-Rundle syndrome C0796136 245100 16 Feb 2016 Disease Richieri Costa Da Silva syndrome Orphanet C2930978 ORPHA3101 255710 27 Apr 2020 Disease Richieri Costa Guion-Almeida syndrome 16 Feb 2016 Disease Richieri Costa Orquizas syndrome 16 Feb 2016 Disease Richieri Costa-Pereira syndrome MONDO C1849348 MONDO:0009998 268305 22 Apr 2020 Disease Richieri-Costa Colletto Otto syndrome 16 Feb 2016 Disease Richieri-Costa Guion-Almeida Cohen syndrome 16 Feb 2016 Disease Richieri-costa/guion-almeida syndrome NCBI curation C0796142 268850 24 Aug 2016 Disease Richter syndrome C0349631 16 Feb 2016 Disease Rickets Human Phenotype Ontology C0035579 HP:0002748 16 Feb 2016 Disease Rickets of the lower limbs Human Phenotype Ontology C1833323 HP:0006463 16 Feb 2016 Finding Rickettsia conorii infectious disease MONDO CN281769 MONDO:0005677 04 Jun 2020 Infectious disease Rickettsia helvetica spotted fever MONDO CN281930 MONDO:0000331 04 Jun 2020 Infectious disease Rickettsia parkeri spotted fever MONDO CN281909 MONDO:0000234 04 Jun 2020 Infectious disease Rickettsiaceae infectious disease MONDO CN281660 MONDO:0006927 04 Jun 2020 Infectious disease Rickettsial disease NCBI curation 16 Feb 2016 Disease Rickettsial pneumonia MONDO C0032307 MONDO:0005947 04 Jun 2020 Infectious disease Rickettsialpox MONDO C0035597 MONDO:0019360 04 Jun 2020 Infectious disease Rickettsiosis NCBI curation C0035585 16 Feb 2016 Infectious disease Riddle syndrome NCBI curation C2677792 611943 16 Feb 2016 Disease Ridged cranial sutures Human Phenotype Ontology C4023692 HP:0010823 16 Feb 2016 Finding Ridged fingernail Human Phenotype Ontology C1849392 HP:0008402 16 Feb 2016 Finding Ridged nail Human Phenotype Ontology C0423820 HP:0001807 16 Feb 2016 Finding Riedel's fibrosing thyroiditis MONDO MONDO:0001948 17 Apr 2020 Disease Rieger syndrome NCBI curation C0265341 16 Feb 2016 Disease Rifampin response CN078006 16 Feb 2016 Pharmacological response Rift valley fever MONDO C0035613 MONDO:0017880 04 Jun 2020 Infectious disease Right aortic arch Human Phenotype Ontology C0035615 HP:0012020 16 Feb 2016 Finding Right aortic arch with left descending aorta and left ductus arteriosus Human Phenotype Ontology C4023276 HP:0011597 16 Feb 2016 Finding Right aortic arch with mirror image branching Human Phenotype Ontology C4025695 HP:0002627 16 Feb 2016 Finding Right aortic arch with retroesophageal diverticulum of Kommerell Human Phenotype Ontology C4023279 HP:0011594 16 Feb 2016 Finding Right aortic arch with retroesophageal left subclavian artery Human Phenotype Ontology C4021140 HP:0011598 16 Feb 2016 Finding Right atrial enlargement Human Phenotype Ontology C0748427 HP:0030718 02 Apr 2017 Finding Right atrial isomerism Human Phenotype Ontology C3178806 HP:0011536 16 Feb 2016 Finding Right atrium familial dilatation 16 Feb 2016 Disease Right bundle branch block Human Phenotype Ontology C0085615 HP:0011712 16 Feb 2016 Finding Right bundle branch block (disease) MONDO MONDO:0001662 17 Apr 2020 Disease Right cerebellar hypoplasia 23 Jan 2020 Finding Right facial palsy CN236733 09 Jun 2016 Finding Right hemiplegia Human Phenotype Ontology C0457433 HP:0040293 04 Apr 2018 Finding Right inferior vena cava connecting to left-sided atrium MONDO CN207308 MONDO:0020448 17 Apr 2020 Disease right isomerism CN238749 19 Oct 2016 Finding right leg hemihypertrophy 10 Jun 2020 Finding right lower extremity weakness 20 Jun 2019 Finding Right middle ear dysfunction CN235506 12 Mar 2016 Finding Right optic nerve head palilla, prominent 23 Jan 2020 Finding Right pulmonary artery, anomalous origin of, familial MONDO C1835910 MONDO:0012473 610338 22 Apr 2020 Disease Right sided atrium to left ventricle and absent left sided atrioventricular connection Human Phenotype Ontology C4023303 HP:0011551 16 Feb 2016 Finding Right superior vena cava connecting to left-sided atrium MONDO CN207303 MONDO:0020441 17 Apr 2020 Disease Right thumb hemihypertrophy CN233164 16 Feb 2016 Finding Right unicoronal synostosis Human Phenotype Ontology C4023416 HP:0011317 16 Feb 2016 Finding Right unilambdoid synostosis Human Phenotype Ontology C4023414 HP:0011322 16 Feb 2016 Finding Right ventricular cardiomyopathy Human Phenotype Ontology C2063326 HP:0011663 16 Feb 2016 Finding Right ventricular dilatation Human Phenotype Ontology C0344893 HP:0005133 16 Feb 2016 Finding Right ventricular failure Human Phenotype Ontology C2939447 HP:0001708 16 Feb 2016 Finding Right ventricular hypertrophy Human Phenotype Ontology C0162770 HP:0001667 16 Feb 2016 Finding Right ventricular noncompaction cardiomyopathy Human Phenotype Ontology C4022714 HP:0012816 16 Feb 2016 Finding Right ventricular outlet obstruction Human Phenotype Ontology C0035619 HP:0001705 16 Feb 2016 Finding Right-sided diaphragmatic elevation 28 Jun 2019 Finding Right-sided pulmonary hypoplasia 28 Jun 2019 Finding Right-to-left shunt Human Phenotype Ontology C0428871 HP:0001694 16 Feb 2016 Finding Rightward direction of ventricular apex Human Phenotype Ontology C4023274 HP:0011601 16 Feb 2016 Finding Rigidity Human Phenotype Ontology C0026837 HP:0002063 16 Feb 2016 Finding Rigidity and multifocal seizure syndrome, lethal neonatal NCBI curation C3281029 614498 16 Feb 2016 Disease Rigors Human Phenotype Ontology C0424790 HP:0025145 02 Apr 2017 Finding Rimmed vacuoles Human Phenotype Ontology C1853932 HP:0003805 16 Feb 2016 Finding Rinderpest MONDO C0035637 MONDO:0025459 17 Apr 2020 Disease Ring chromosome MONDO C0035639 MONDO:0018186 17 Apr 2020 Disease Ring chromosome 1 MONDO CN036412 MONDO:0015430 22 Apr 2020 Disease Ring chromosome 10 MONDO C0265438 MONDO:0015431 28 May 2020 Disease Ring chromosome 11 MONDO C0265444 MONDO:0019906 17 Apr 2020 Disease Ring chromosome 12 MONDO C0795843 MONDO:0015432 22 Apr 2020 Disease Ring chromosome 13 MONDO CN037068 MONDO:0019907 22 Apr 2020 Disease Ring chromosome 14 NCBI curation C2930916 16 Feb 2016 Disease Ring chromosome 14 syndrome NCBI curation CN233170 616606 16 Feb 2016 Disease Ring chromosome 15 MONDO CN035931 MONDO:0019908 22 Apr 2020 Disease Ring chromosome 16 MONDO C4706449 MONDO:0019909 17 Apr 2020 Disease Ring chromosome 17 NCBI curation C0795863 16 Feb 2016 Disease Ring chromosome 18 MONDO C0265475 MONDO:0015434 28 May 2020 Disease Ring chromosome 19 MONDO CN036553 MONDO:0015435 22 Apr 2020 Disease Ring chromosome 20 syndrome NCBI curation C0265482 16 Feb 2016 Disease Ring chromosome 21 MONDO CN037252 MONDO:0015437 22 Apr 2020 Disease Ring chromosome 22 MONDO CN036599 MONDO:0015438 22 Apr 2020 Disease Ring chromosome 4 syndrome C0265407 16 Feb 2016 Disease Ring chromosome 6 MONDO C0795814 MONDO:0015440 22 Apr 2020 Disease Ring chromosome 7 MONDO C0795818 MONDO:0015441 17 Apr 2020 Disease Ring chromosome 9 MONDO CN036105 MONDO:0019905 22 Apr 2020 Disease Ring chromosome Y MONDO C4706450 MONDO:0016853 17 Apr 2020 Disease Ring corneal ulcer MONDO C0155068 MONDO:0001037 17 Apr 2020 Disease Ring dermoid of cornea C1867155 180550 16 Feb 2016 Disease Ring fibers Human Phenotype Ontology C0333770 HP:0100305 16 Feb 2016 Finding Ring scotoma Human Phenotype Ontology C0438434 HP:0030529 16 Feb 2016 Finding Ring staphyloma MONDO C0155363 MONDO:0001320 17 Apr 2020 Disease Ringed hair disease 16 Feb 2016 Disease Rippling muscle disease NCBI curation C1853698 11 Jan 2020 Disease Rippling muscle disease 1 MONDO C1838254 MONDO:0010868 600332 22 Apr 2020 Disease Rippling muscle disease 2 NCBI curation C1832560 606072 05 Jan 2020 Disease Rippling muscle disease 2, autosomal recessive NCBI curation C4016724 16 Feb 2016 Disease Rippling muscle disease with myasthenia gravis MONDO C4749335 MONDO:0016100 17 Apr 2020 Disease risk of Toxoplasmosis infection 30 Mar 2018 Finding Risk taking Human Phenotype Ontology C0035651 HP:0031472 04 Apr 2018 Finding Risk-taking behavior NCBI curation 16 Feb 2016 Disease Risperidone response NCBI curation CN078009 16 Feb 2016 Pharmacological response risperidone response - Efficacy PharmGKB CN236576 655387652 18 May 2016 Pharmacological response risperidone response - Toxicity/ADR PharmGKB CN236619 1446898992 18 May 2016 Pharmacological response Risus sardonicus Human Phenotype Ontology C0343494 HP:0040212 02 Apr 2017 Finding Ritscher-Schinzel syndrome OMIM phenotypic series C0796137 PS220210 22 Apr 2020 Disease Ritscher-Schinzel syndrome MONDO C0796137 MONDO:0019078 22 Apr 2020 Disease Ritscher-Schinzel syndrome 1 NCBI curation C4551776 220210 26 Jan 2020 Disease Ritscher-schinzel syndrome 2 NCBI curation C4225419 300963 16 Feb 2016 Disease rituximab response - Efficacy PharmGKB CN236577 655384674 18 May 2016 Pharmacological response RLBP1-Related Disorders CN239413 02 Dec 2016 Disease Rnf13-related severe early-onset epileptic encephalopathy MONDO C5193065 MONDO:0034106 618379 17 Apr 2020 Disease RNU4ATAC-related spliceosomopathies 21 May 2020 Disease Roberts-SC phocomelia syndrome NCBI curation C0392475 269000 16 Feb 2016 Disease Roberts-SC phocomelia syndrome NCBI curation C0392475 268300 16 Feb 2016 Disease Robin sequence Human Phenotype Ontology C0031900 HP:0000201 261800 10 Apr 2018 Disease Robin sequence with distinctive facial appearance and brachydactyly NCBI curation C1837564 608670 16 Feb 2016 Disease Robin sequence-oligodactyly syndrome MONDO C1868309 MONDO:0008247 172880 17 Apr 2020 Disease Robinow syndrome OMIM phenotypic series C0265205 PS268310 21 Dec 2019 Disease Robinow syndrome Orphanet C0265205 ORPHA97360 21 Dec 2019 Disease Robinow syndrome, autosomal dominant 1 NCBI curation C4551475 180700 21 Dec 2019 Disease Robinow syndrome, autosomal dominant 2 NCBI curation C4225363 616331 16 Feb 2016 Disease Robinow syndrome, autosomal dominant 3 NCBI curation C4225164 616894 26 May 2016 Disease Robinow syndrome, autosomal recessive NCBI curation C1849334 268310 16 Feb 2016 Disease ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 OMIM C5193143 618529 618529 10 Aug 2019 Disease Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals NCBI curation C3151609 16 Feb 2016 Disease Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly NCBI curation C3151610 16 Feb 2016 Disease Robinow-like syndrome MONDO CN274558 MONDO:0017770 17 Apr 2020 Disease Robinow-Sorauf syndrome MONDO C1867146 MONDO:0008391 180750 22 Apr 2020 Disease Robinson Miller Bensimon syndrome 16 Feb 2016 Disease Roch-Leri mesosomatous lipomatosis C4274284 16 Feb 2016 Disease Rocker bottom foot Human Phenotype Ontology C1844713 HP:0001838 16 Feb 2016 Finding Rocky Mountain spotted fever C0035793 16 Feb 2016 Infectious disease Rod monochromatism NCBI curation C0302129 16 Feb 2016 Disease Rod-cone dystrophy Human Phenotype Ontology C4551714 HP:0000510 16 Feb 2016 Finding Rodent disease MONDO C0035801 MONDO:0024981 17 Apr 2020 Disease Rodini Richieri Costa syndrome 16 Feb 2016 Disease Roifman syndrome C1846059 616651 16 Feb 2016 Disease Roifman-Chitayat syndrome NCBI curation C2750068 613328 16 Feb 2016 Disease Rokitansky Kuster Hauser syndrome C1698581 277000 16 Feb 2016 Disease Rokitansky sequence 16 Feb 2016 Disease Rokitansky-Aschoff sinuses of the gallbladder C0267892 16 Feb 2016 Disease Rolandic epilepsy Orphanet CN417132 ORPHA1945 25 Aug 2017 Disease Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked NCBI curation C1845070 300643 16 Feb 2016 Disease Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome MONDO C1842531 MONDO:0011970 608105 17 Apr 2020 Disease Rolandic epilepsy-speech dyspraxia syndrome MONDO C4707308 MONDO:0015587 17 Apr 2020 Disease Rolland-Debuqois syndrome C0432209 224400 16 Feb 2016 Disease Romano-Ward syndrome C0035828 16 Feb 2016 Disease Rombo syndrome C1867147 180730 16 Feb 2016 Disease Rommen Mueller Sybert syndrome 16 Feb 2016 Disease Root caries MONDO C0162644 MONDO:0006957 17 Apr 2020 Disease Root resorption MONDO C0035851 MONDO:0001997 17 Apr 2020 Disease Rootless teeth Human Phenotype Ontology C4082200 HP:0011072 16 Feb 2016 Finding ROR2-Related Disorders 23 May 2019 Disease Rosacea conjunctivitis MONDO C0155152 MONDO:0004856 17 Apr 2020 Disease ROSAH syndrome 22 Feb 2019 Disease Rosai-Dorfman disease NCBI curation C0019625 16 Feb 2016 Disease Rosenthal fibres Human Phenotype Ontology C0333731 HP:0100320 16 Feb 2016 Finding Roseolovirus infectious disease MONDO C0376549 MONDO:0005949 04 Jun 2020 Infectious disease Rosette-forming glioneuronal tumor Human Phenotype Ontology C4331262 HP:0025171 02 Apr 2017 Finding Rosiglitazone response NCBI curation CN427421 01 Sep 2017 Pharmacological response rosiglitazone response - Dosage PharmGKB CN240600 655384653 17 Feb 2017 Pharmacological response rosiglitazone response - Metabolism/PK PharmGKB 655384653PA451283 06 Jul 2018 Pharmacological response Ross river fever MONDO C0919833 MONDO:0000344 04 Jun 2020 Infectious disease Rosselli-gulienetti syndrome C0796139 225000 24 Aug 2016 Disease rosuvastatin C0965129 01 Mar 2017 Disease Rosuvastatin Response CN282573 17 Jun 2020 Pharmacological response rosuvastatin response - Efficacy PharmGKB CN236578 1154221922 18 May 2016 Pharmacological response rosuvastatin response - Other PharmGKB CN236613 981345350 18 May 2016 Pharmacological response rosuvastatin response - Toxicity/ADR PharmGKB CN236620 981419532 18 May 2016 Pharmacological response Rotary nystagmus Human Phenotype Ontology C0240595 HP:0001583 16 Feb 2016 Finding rotated large and dysplastic ears 22 Aug 2019 Finding Rotated maxillary central incisors Human Phenotype Ontology C4025063 HP:0006330 16 Feb 2016 Finding Rotator cuff syndrome MONDO C0263912 MONDO:0007028 17 Apr 2020 Disease Rotavirus infection MONDO C0035869 MONDO:0005194 04 Jun 2020 Infectious disease Rothmund-Thomson syndrome OMIM phenotypic series C0032339 PS268400 16 Feb 2016 Disease Rothmund-Thomson syndrome type 1 NCBI curation C5231433 618625 07 Nov 2019 Disease Rothmund-Thomson syndrome type 2 NCBI curation C5203410 268400 07 Nov 2019 Disease Rotor syndrome C0220991 237450 16 Feb 2016 Disease Rough bone trabeculation Human Phenotype Ontology C4020958 HP:0100670 16 Feb 2016 Finding Round cell liposarcoma MONDO C0334471 MONDO:0005238 17 Apr 2020 Disease Round ear Human Phenotype Ontology C4021959 HP:0100830 16 Feb 2016 Finding Round epiphyses of the upper limbs Human Phenotype Ontology C4025557 HP:0003843 16 Feb 2016 Finding Round face Human Phenotype Ontology C0239479 HP:0000311 16 Feb 2016 Finding Round humeral epiphyses Human Phenotype Ontology C4025521 HP:0003899 16 Feb 2016 Finding Round ligament malignant neoplasm MONDO C0346867 MONDO:0001352 17 Apr 2020 Disease round nostrils 22 Aug 2019 Finding round pelvis C0265729 16 Feb 2016 Finding Round radial epiphyses Human Phenotype Ontology C4025451 HP:0004006 16 Feb 2016 Finding Round skull CN234614 16 Feb 2016 Finding round tip 22 Aug 2019 Finding Rounded epiphyses Human Phenotype Ontology C1850632 HP:0006026 16 Feb 2016 Finding Rounded middle phalanx of finger Human Phenotype Ontology C4025126 HP:0005844 16 Feb 2016 Finding rounded nasal tip 22 Aug 2019 Finding rounded nose with bulbous tip 22 Aug 2019 Finding rounded tip 22 Aug 2019 Finding Roussy-Lévy syndrome C0205713 180800 16 Feb 2016 Disease Rowell syndrome MONDO C0406637 MONDO:0041186 17 Apr 2020 Disease Rowley-Rosenberg syndrome C0268426 268500 16 Feb 2016 Disease RP CN238760 19 Oct 2016 Finding RP1-related retinal dystrophy 21 May 2020 Disease RPE65-Related Disorders CN239301 02 Dec 2016 Disease RPGRIP1L-Related Disorders CN239416 02 Dec 2016 Disease RRM2B-related mitochondrial disease CN187502 16 Feb 2016 Disease RTEL1-related Disorders 12 Jul 2018 Disease Rubella NCBI curation C0035920 16 Feb 2016 Infectious disease Rubella congenital NCBI curation 16 Feb 2016 Disease Rubella encephalitis MONDO C0238099 MONDO:0020648 04 Jun 2020 Infectious disease Rubeosis iridis Human Phenotype Ontology CN241340 HP:0025319 02 Apr 2017 Finding Rubinstein Taybi like syndrome C2931052 16 Feb 2016 Disease Rubinstein-Taybi syndrome OMIM phenotypic series C0035934 PS180849 13 Feb 2019 Disease Rubinstein-Taybi syndrome 1 NCBI curation C4551859 180849 13 Feb 2019 Disease Rubinstein-Taybi syndrome 2 NCBI curation C3150941 613684 16 Feb 2016 Disease Rubinstein-Taybi syndrome due to 16p13.3 microdeletion MONDO C1864648 MONDO:0012519 610543 17 Apr 2020 Disease Rubral tremor Human Phenotype Ontology C0750940 HP:0030665 02 Apr 2017 Finding Rud Syndrome 16 Feb 2016 Disease Rudd Klimek syndrome 16 Feb 2016 Disease Rudimentary fibula Human Phenotype Ontology C1844706 HP:0006381 16 Feb 2016 Finding rudimentary lens CN228394 16 Feb 2016 Finding Rudimentary postaxial polydactyly of hands Human Phenotype Ontology C4025158 HP:0005676 16 Feb 2016 Finding Rudimentary to absent tibiae Human Phenotype Ontology C1968943 HP:0006426 16 Feb 2016 Finding Ruijs-Aalfs syndrome NCBI curation C4015461 616200 24 Dec 2016 Disease Rumination disorder C0154575 16 Feb 2016 Disease Russell-Silver syndrome NCBI curation C0175693 180860 16 Feb 2016 Disease Russell-silver syndrome, X-linked NCBI curation C0220775 312780 16 Feb 2016 Disease Rutland ciliary disorientation syndrome C0340038 215518 16 Feb 2016 Disease Ruvalcaba Churesigaew Myhre syndrome C2931437 16 Feb 2016 Disease Ruvalcaba syndrome C0265248 180870 16 Feb 2016 Disease Ruzicka-Goerz-Anton syndrome MONDO C2931438 MONDO:0042498 22 Apr 2020 Disease RYR1-Related Disorder 13 Oct 2017 Disease RYR1-Related Disorders CN239331 02 Dec 2016 Disease S-shaped palpebral fissures Human Phenotype Ontology C4024787 HP:0007835 16 Feb 2016 Finding Saal-Bulas syndrome MONDO C2931439 MONDO:0042956 22 Apr 2020 Disease Sabinas brittle hair syndrome C0796271 211390 16 Feb 2016 Disease Saccadic smooth pursuit Human Phenotype Ontology C1836479 HP:0001152 16 Feb 2016 Finding Saccharopinuria C0268556 268700 16 Feb 2016 Disease Saccular conjunctival dilatations Human Phenotype Ontology C4476547 HP:0007721 04 Apr 2018 Finding Sackey-Sakati-Aur syndrome MONDO C2931442 MONDO:0042960 22 Apr 2020 Disease Sacral agenesis NCBI curation C0344490 16 Feb 2016 Disease Sacral agenesis syndrome NCBI curation 16 Feb 2016 Disease Sacral agenesis with vertebral anomalies NCBI curation C3810343 615709 16 Feb 2016 Disease Sacral agenesis, hereditary, with presacral mass, anterior meningocele, and/or teratoma, and anorectal malformation NCBI curation 16 Feb 2016 Disease Sacral dimple Human Phenotype Ontology C0426848 HP:0000960 16 Feb 2016 Finding Sacral dysplasia 24 Jun 2020 Disease Sacral hemangiomas multiple congenital abnormalities C2931443 16 Feb 2016 Disease Sacral hypertrichosis Human Phenotype Ontology C4025313 HP:0004532 16 Feb 2016 Finding Sacral lipoma Human Phenotype Ontology C4021835 HP:0012033 16 Feb 2016 Finding sacral mass 13 Feb 2020 Finding Sacral meningocele Human Phenotype Ontology C0521556 HP:0005765 16 Feb 2016 Finding Sacral nerve plexus disease MONDO C2931445 MONDO:0024454 17 Apr 2020 Disease Sacral plexopathy 16 Feb 2016 Disease Sacral segmentation defect Human Phenotype Ontology C1850329 HP:0008490 16 Feb 2016 Finding Sacral spinal canal and spinal cord meningioma MONDO C1335893 MONDO:0004498 17 Apr 2020 Disease Sacralization of the fifth lumbar vertebra Human Phenotype Ontology C0559262 HP:0030125 16 Feb 2016 Finding Sacrococcygeal pilonidal abnormality Human Phenotype Ontology C4023709 HP:0010767 16 Feb 2016 Finding Sacrococcygeal teratoma Human Phenotype Ontology C0559459 HP:0030736 02 Apr 2017 Disease Sacroiliac joint synovitis Human Phenotype Ontology C4022900 HP:0012449 16 Feb 2016 Finding Sacrum chordoma MONDO C3164279 MONDO:0000518 17 Apr 2020 Disease Saethre-Chotzen syndrome NCBI curation C0175699 101400 16 Feb 2016 Disease Saethre-Chotzen syndrome with eyelid anomalies NCBI curation C1863370 16 Feb 2016 Disease SAG-Related Disorders 23 May 2019 Disease Sagging cheeks 23 Jan 2020 Finding Sagittal craniosynostosis Human Phenotype Ontology C0432123 HP:0004442 16 Feb 2016 Finding Sagittal sinus thrombosis MONDO C0338575 MONDO:0002695 17 Apr 2020 Disease sagittal synostosis 22 Aug 2019 Finding Sagliker syndrome MONDO CN203388 MONDO:0017584 17 Apr 2020 Disease Sakoda complex C1970485 610871 16 Feb 2016 Disease Sakoda spectrum NCBI curation 16 Feb 2016 Disease Salamon's syndrome C0406718 278200 16 Feb 2016 Disease salbutamol response - Efficacy PharmGKB CN236579 655386945 18 May 2016 Pharmacological response Salivary duct carcinoma MONDO C1301194 MONDO:0044915 17 Apr 2020 Disease Salivary gland acinic cell carcinoma MONDO C0279738 MONDO:0006400 17 Apr 2020 Disease Salivary gland adenoid cystic carcinoma MONDO C0279751 MONDO:0003175 17 Apr 2020 Disease Salivary gland adenosquamous carcinoma MONDO C1335894 MONDO:0006401 17 Apr 2020 Disease Salivary gland basal cell adenocarcinoma MONDO C2243086 MONDO:0006402 17 Apr 2020 Disease Salivary gland cancer MONDO MONDO:0004669 17 Apr 2020 Disease Salivary gland cancer, adult 16 Feb 2016 Disease Salivary gland cancer, childhood 16 Feb 2016 Disease Salivary gland carcinoma MONDO C0948750 MONDO:0000521 17 Apr 2020 Disease Salivary gland carcinoma ex pleomorphic adenoma MONDO C1519172 MONDO:0006403 17 Apr 2020 Disease Salivary gland epithelial myoepithelial carcinoma MONDO C1335900 MONDO:0020694 17 Apr 2020 Disease Salivary gland large cell carcinoma MONDO C2111671 MONDO:0006404 17 Apr 2020 Disease Salivary gland mucoepidermoid carcinoma MONDO C1335903 MONDO:0021009 17 Apr 2020 Disease Salivary gland neoplasm Human Phenotype Ontology C0036095 HP:0100684 16 Feb 2016 Finding Salivary gland oncocytoma Human Phenotype Ontology C1335906 HP:0031523 04 Apr 2018 Finding Salivary gland small cell carcinoma MONDO C1335982 MONDO:0006405 17 Apr 2020 Disease Salivary gland type cancer of the breast MONDO CN201040 MONDO:0016251 17 Apr 2020 Disease Salivary glands, absence of CN235308 26 May 2016 Disease Salivary glands, absence of, include NCBI curation CN225065 16 Feb 2016 Disease Salivary substance, clostridium botulinum type NCBI curation C1867056 180950 16 Feb 2016 Disease SALL4-Related Spectrum Disorders CN239401 02 Dec 2016 Disease Salla disease C1096903 604369 16 Feb 2016 Disease salmeterol response - Efficacy PharmGKB CN236580 655385102 18 May 2016 Pharmacological response Salmonella gastroenteritis MONDO CN281797 MONDO:0005950 04 Jun 2020 Infectious disease Salmonella osteomyelitis Human Phenotype Ontology C0152491 HP:0005661 16 Feb 2016 Finding Salmonellosis MONDO C0036117 MONDO:0000827 04 Jun 2020 Infectious disease Salmonid viral hemorrhagic septicemia MONDO C1135869 MONDO:0006010 04 Jun 2020 Infectious disease Salpingitis MONDO C0036130 MONDO:0003619 17 Apr 2020 Disease Salpingitis isthmica nodosa MONDO C0269043 MONDO:0003616 17 Apr 2020 Disease Salpingo-oophoritis MONDO C0036133 MONDO:0001172 17 Apr 2020 Disease Salt and pepper developmental regression syndrome NCBI curation C1836824 609056 29 Oct 2018 Disease Salt and pepper syndrome MONDO CN204860 MONDO:0018275 17 Apr 2020 Disease Salt craving Human Phenotype Ontology C0240928 HP:0030083 16 Feb 2016 Finding Same heterozygous variant was found in husband and prenatal study from amniotic fluid is found to be homozygous for the same variant 20 Jul 2017 Finding Sammartino-Decreccio syndrome MONDO MONDO:0042600 22 Apr 2020 Disease Samson-Gardner syndrome MONDO C2931448 MONDO:0042601 22 Apr 2020 Disease Samson-Viljoen syndrome MONDO C2931449 MONDO:0042602 22 Apr 2020 Disease Sandal gap Human Phenotype Ontology C1840069 HP:0001852 16 Feb 2016 Finding Sandal gap of toes 30 Jul 2019 Finding Sanderson-Fraser syndrome MONDO C2931450 MONDO:0042603 22 Apr 2020 Disease SANDESTIG-STEFANOVA SYNDROME OMIM CN263352 618804 618804 07 Mar 2020 Disease Sandhaus-Ben-Ami syndrome MONDO C2931451 MONDO:0042604 22 Apr 2020 Disease Sandhoff disease C0036161 268800 16 Feb 2016 Disease Sandhoff disease, adult form MONDO CN203619 MONDO:0017723 17 Apr 2020 Disease Sandhoff disease, adult type NCBI curation C1849320 16 Feb 2016 Disease Sandhoff disease, chronic NCBI curation CN068767 16 Feb 2016 Disease Sandhoff disease, infantile NCBI curation C0751490 16 Feb 2016 Disease Sandhoff disease, infantile form MONDO CN203617 MONDO:0017721 17 Apr 2020 Disease Sandhoff disease, infantile type NCBI curation C1849322 16 Feb 2016 Disease Sandhoff disease, juvenile form MONDO CN203618 MONDO:0017722 17 Apr 2020 Disease Sandhoff disease, juvenile type NCBI curation C1849321 16 Feb 2016 Disease Sandifer syndrome C0338465 16 Feb 2016 Disease Sandwich appearance of vertebral bodies Human Phenotype Ontology C1850134 HP:0004618 16 Feb 2016 Finding Sanfilippo syndrome NCBI curation C0026706 16 Feb 2016 Disease Santos Mateus Leal syndrome 16 Feb 2016 Disease Santos syndrome NCBI curation C2751698 613005 16 Feb 2016 Disease SAPHO syndrome C0263859 16 Feb 2016 Disease Sarcal lesion 15 Mar 2018 Finding Sarcocystosis MONDO C0036231 MONDO:0018903 04 Jun 2020 Infectious disease Sarcoglycanopathy MONDO C2936331 MONDO:0016140 17 Apr 2020 Disease Sarcoid meningitis MONDO C0154648 MONDO:0001424 17 Apr 2020 Disease Sarcoidosis C0036202 16 Feb 2016 Disease Sarcoidosis 1 NCBI curation C2697310 181000 16 Feb 2016 Disease Sarcoidosis 2 NCBI curation C2676468 612387 16 Feb 2016 Disease Sarcoidosis 3 NCBI curation C2676467 612388 16 Feb 2016 Disease Sarcoma Human Phenotype Ontology C1261473 HP:0100242 16 Feb 2016 Disease Sarcoma botryoides 16 Feb 2016 Disease Sarcoma of cervix uteri MONDO CN201070 MONDO:0016280 17 Apr 2020 Disease Sarcoma, avian MONDO MONDO:0025382 17 Apr 2020 Disease Sarcomatoid basal cell carcinoma MONDO C1519182 MONDO:0002957 17 Apr 2020 Disease Sarcomatoid carcinoma MONDO C0205697 MONDO:0006406 17 Apr 2020 Disease Sarcomatoid carcinoma of the tongue Human Phenotype Ontology C2018408 HP:0030415 16 Feb 2016 Finding Sarcomatoid mesothelioma MONDO C0334513 MONDO:0006407 17 Apr 2020 Disease Sarcomatoid penile squamous cell carcinoma MONDO C1335923 MONDO:0004410 17 Apr 2020 Disease Sarcomatoid renal cell carcinoma MONDO C1266043 MONDO:0003012 17 Apr 2020 Disease Sarcomatoid squamous cell carcinoma MONDO MONDO:0021663 17 Apr 2020 Disease Sarcomatoid squamous cell skin carcinoma MONDO C0349656 MONDO:0003499 17 Apr 2020 Disease Sarcomatoid transitional cell carcinoma MONDO C0334271 MONDO:0002837 17 Apr 2020 Disease Sarcomatosis MONDO C0334451 MONDO:0004309 17 Apr 2020 Disease Sarcomatosis of the meninges MONDO C0334612 MONDO:0004307 17 Apr 2020 Disease Sarcomatous intrahepatic cholangiocarcinoma MONDO C1519184 MONDO:0004451 17 Apr 2020 Disease Sarcopenia MONDO C0872084 MONDO:0006516 17 Apr 2020 Disease Sarcosine dehydrogenase deficiency C0268563 268900 16 Feb 2016 Disease Sarcotubular myopathy NCBI curation C0270968 254110 16 Feb 2016 Disease Sardinian HPFH NCBI curation C3891817 06 Mar 2016 Disease SARS2-associated condition 02 Aug 2019 Finding SATB2-Related Disorder 11 Oct 2018 Disease Satoyoshi syndrome C1833454 600705 16 Feb 2016 Disease Satyr ear Human Phenotype Ontology C4048833 HP:0030676 02 Apr 2017 Finding Saul-Wilkes-Stevenson syndrome MONDO C2931266 MONDO:0042717 22 Apr 2020 Disease Sawtooth acanthosis Human Phenotype Ontology C4476599 HP:0025122 02 Apr 2017 Finding Say-Barber-Miller syndrome MONDO C1855078 MONDO:0009620 251240 22 Apr 2020 Disease Say-Carpenter syndrome MONDO MONDO:0042902 22 Apr 2020 Disease Say-field-Coldwell syndrome MONDO C1860805 MONDO:0008606 190650 22 Apr 2020 Disease Sc(1) trait of saliva NCBI curation C1867022 181200 24 Aug 2016 Disease SCA29 with asymptomatic cerebellar hypoplasia CN237796 19 Aug 2016 Finding Scabies MONDO C0036262 MONDO:0004525 04 Jun 2020 Infectious disease Scaling skin Human Phenotype Ontology C0237849 HP:0040189 16 Feb 2016 Finding Scaling skin on fingertip Human Phenotype Ontology C4476829 HP:0025525 04 Apr 2018 Finding Scalp and face edema 22 Jun 2020 Finding Scalp defects-postaxial polydactyly syndrome MONDO C1867021 MONDO:0008403 181250 17 Apr 2020 Disease Scalp dermatosis MONDO C0036271 MONDO:0006605 17 Apr 2020 Disease Scalp disease MONDO C0406629 MONDO:0044999 17 Apr 2020 Disease Scalp hemangioma 23 Jan 2020 Finding Scalp syndrome MONDO C4751599 MONDO:0018260 17 Apr 2020 Disease Scalp tenderness Human Phenotype Ontology C0151206 HP:0100809 16 Feb 2016 Finding Scalp-ear-nipple syndrome MONDO C1867020 MONDO:0008404 181270 22 Apr 2020 Disease Scanning speech Human Phenotype Ontology C0278184 HP:0002168 16 Feb 2016 Finding scaphocephalic 05 Sep 2019 Finding Scaphocephaly Human Phenotype Ontology C0265534 HP:0030799 02 Apr 2017 Disease Scaphocephaly and axenfeld-rieger anomaly NCBI curation C1867564 16 Feb 2016 Disease Scaphocephaly, maxillary retrusion, and mental retardation NCBI curation C1865070 609579 16 Feb 2016 Disease Scaphoid abdomen Human Phenotype Ontology C0238532 HP:0025063 02 Apr 2017 Finding Scaphotrapeziotrapezoid arthrodesis 16 Feb 2016 Disease Scapula, contour of vertebral border of NCBI curation C1867019 181300 16 Feb 2016 Disease Scapular aplasia Human Phenotype Ontology C4021298 HP:0010317 16 Feb 2016 Finding Scapular exostoses Human Phenotype Ontology C1851415 HP:0000918 16 Feb 2016 Finding Scapular muscle atrophy Human Phenotype Ontology C3805969 HP:0009060 16 Feb 2016 Finding Scapular muscle hypertrophy Human Phenotype Ontology C4022688 HP:0012895 16 Feb 2016 Finding Scapular winging Human Phenotype Ontology C0240953 HP:0003691 16 Feb 2016 Finding Scapulohumeral muscular dystrophy Human Phenotype Ontology C0410192 HP:0008970 600416 16 Feb 2016 Disease Scapulohumeral synostosis Human Phenotype Ontology C1865362 HP:0006595 16 Feb 2016 Finding Scapuloperoneal amyotrophy Human Phenotype Ontology C1842162 HP:0003697 16 Feb 2016 Finding Scapuloperoneal myopathy Human Phenotype Ontology C2931268 HP:0009054 16 Feb 2016 Finding Scapuloperoneal myopathy, X-linked dominant NCBI curation C2678061 300695 16 Feb 2016 Disease Scapuloperoneal spinal muscular atrophy NCBI curation C0751335 181405 16 Feb 2016 Disease Scapuloperoneal weakness Human Phenotype Ontology C1842161 HP:0003704 16 Feb 2016 Finding SCARF syndrome C1839321 312830 16 Feb 2016 Disease Scarlet fever MONDO C0036285 MONDO:0005952 04 Jun 2020 Infectious disease Scarring Human Phenotype Ontology C0008767 HP:0100699 16 Feb 2016 Finding Scarring alopecia of scalp Human Phenotype Ontology C3806301 HP:0004552 16 Feb 2016 Finding Scedosporiosis MONDO CN271090 MONDO:0018668 04 Jun 2020 Infectious disease Schaaf-Yang syndrome NCBI curation C3809877 615547 07 May 2020 Disease Schaap-Taylor-Baraitser syndrome MONDO MONDO:0042908 22 Apr 2020 Disease Schaefer Stein Oshman syndrome 16 Feb 2016 Disease Scheuermann-like vertebral changes Human Phenotype Ontology C1844926 HP:0008478 16 Feb 2016 Finding Schilbach-Rott syndrome MONDO C1834038 MONDO:0008113 164220 22 Apr 2020 Disease Schilder's disease C0007795 272100 16 Feb 2016 Disease Schimke immuno-osseous dysplasia MONDO C0877024 MONDO:0009458 242900 17 Apr 2020 Disease Schindler disease, type 3 NCBI curation CN043210 16 Feb 2016 Disease Schinzel phocomelia syndrome NCBI curation C1848651 276820 13 Jan 2020 Disease Schinzel-Giedion syndrome NCBI curation C0265227 269150 16 Feb 2016 Disease Schisis association C2931271 16 Feb 2016 Disease Schistocytosis Human Phenotype Ontology C0344386 HP:0001981 16 Feb 2016 Finding Schistosoma intercalatum infectious disease MONDO C0276932 MONDO:0044351 04 Jun 2020 Infectious disease Schistosoma japonicum infectious disease MONDO CN281900 MONDO:0044344 04 Jun 2020 Infectious disease Schistosoma mansoni infection, susceptibility MONDO MONDO:0000093 17 Apr 2020 Disease Schistosoma mansoni infectious disease MONDO CN281901 MONDO:0044345 04 Jun 2020 Infectious disease Schistosomiasis C1866993 181460 16 Feb 2016 Disease SCHIZENCEPHALY OMIM C0266484 269160 269160 20 May 2016 Disease Schizoaffective disorder PharmGKB C0036337 06 Jul 2018 Disease Schizoaffective disorder, depressive type NCBI curation C0270497 16 Feb 2016 Disease Schizoid personality disorder MONDO C0036339 MONDO:0001161 17 Apr 2020 Disease Schizophrenia Human Phenotype Ontology C0036341 HP:0100753 181500 16 Feb 2016 Disease Schizophrenia 1 NCBI curation C0220702 181510 16 Feb 2016 Disease Schizophrenia 10 NCBI curation C0543918 605419 16 Feb 2016 Disease Schizophrenia 11 NCBI curation C1842605 608078 16 Feb 2016 Disease Schizophrenia 12 NCBI curation C1837893 608543 16 Feb 2016 Disease Schizophrenia 13 NCBI curation C2751663 613025 16 Feb 2016 Disease Schizophrenia 14 NCBI curation C2677614 612361 16 Feb 2016 Disease Schizophrenia 15 NCBI curation C3151380 613950 16 Feb 2016 Disease Schizophrenia 16 NCBI curation C3151408 613959 16 Feb 2016 Disease Schizophrenia 17 NCBI curation C3808494 614332 16 Feb 2016 Disease Schizophrenia 18 NCBI curation C3808913 615232 16 Feb 2016 Disease Schizophrenia 19 NCBI curation C4539944 617629 14 Nov 2018 Disease Schizophrenia 2 NCBI curation C1864010 603342 16 Feb 2016 Disease Schizophrenia 3 NCBI curation C1838069 600511 16 Feb 2016 Disease Schizophrenia 4 NCBI curation C1833247 600850 16 Feb 2016 Disease Schizophrenia 5 NCBI curation C1864153 603175 16 Feb 2016 Disease Schizophrenia 6 NCBI curation C1864275 603013 16 Feb 2016 Disease Schizophrenia 7 NCBI curation C1864152 603176 16 Feb 2016 Disease Schizophrenia 8 NCBI curation C1864124 603206 16 Feb 2016 Disease Schizophrenia 9 NCBI curation C1858050 604906 16 Feb 2016 Disease SCHIZOPHRENIA 9, SUSCEPTIBILITY TO 09 May 2016 Disease Schizophrenia mental retardation deafness retinitis 16 Feb 2016 Disease Schizophrenia, susceptibility to NCBI curation 16 Feb 2016 Disease Schizophrenia;tardive dyskinesia PharmGKB 17 Feb 2017 Disease Schizophreniform disorder C0036358 16 Feb 2016 Finding Schizotaxia 16 Feb 2016 Disease Schizotypal personality disorder MONDO C0036363 MONDO:0001087 17 Apr 2020 Disease Schlegelberger-Grote syndrome MONDO C2931273 MONDO:0042912 22 Apr 2020 Disease Schmitt-Gillenwater-Kelly syndrome MONDO MONDO:0042915 22 Apr 2020 Disease Schmorl's node Human Phenotype Ontology C0410632 HP:0030041 16 Feb 2016 Finding Schneckenbecken dysplasia C0432194 269250 16 Feb 2016 Disease Schnitzler syndrome MONDO C0524988 MONDO:0018304 17 Apr 2020 Disease Schnyder crystalline corneal dystrophy NCBI curation C0271287 121800 16 Feb 2016 Disease Schopf-Schulz-Passarge syndrome NCBI curation C1857069 224750 16 Feb 2016 Disease Schrander-stumpel-Theunissen-Hulsmans syndrome MONDO C2931275 MONDO:0042913 22 Apr 2020 Disease Schroer Hammer Mauldin syndrome 16 Feb 2016 Disease Schuurs-hoeijmakers syndrome NCBI curation C3554343 615009 24 Aug 2016 Disease Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma MONDO C1516760 MONDO:0004408 17 Apr 2020 Disease Schwannoma Human Phenotype Ontology C0027809 HP:0100008 16 Feb 2016 Disease Schwannoma of jugular foramen MONDO C1334300 MONDO:0003980 17 Apr 2020 Disease Schwannoma of twelfth cranial nerve MONDO C1335928 MONDO:0002549 17 Apr 2020 Disease Schwannoma of ureter MONDO C1336877 MONDO:0001400 17 Apr 2020 Disease Schwannomatosis OMIM phenotypic series C1335929 PS162091 23 Oct 2016 Disease Schwannomatosis 1 NCBI curation C4048809 162091 23 Oct 2016 Disease Schwannomatosis 1, somatic NCBI curation C4016745 20 Jan 2018 Disease Schwannomatosis 2 NCBI curation C3810283 615670 16 Feb 2016 Disease SCHWANNOMATOSIS, SOMATIC C4017083 16 Oct 2017 Disease Schwannomatosis-1, susceptibility to CN259082 17 Jun 2019 Disease Schwannomatosis-2, susceptibility to CN259083 17 Jun 2019 Disease Schwartz-Cohen-addad-Lambert syndrome MONDO C2931036 MONDO:0042911 22 Apr 2020 Disease Schwartz-Jampel syndrome MONDO C4551479 MONDO:0009717 255800 22 Apr 2020 Disease Schwartz-Jampel Syndrome, Type 10 CN230093 16 Feb 2016 Disease Schwartz-Jampel Syndrome, Type 11 CN230091 16 Feb 2016 Disease Schwartz-Jampel Syndrome, Type 3 CN230098 16 Feb 2016 Disease Schwartz-Jampel Syndrome, Type 4 CN230099 16 Feb 2016 Disease Schwartz-Jampel Syndrome, Type 5 CN230094 16 Feb 2016 Disease Schwartz-Jampel Syndrome, Type 6 CN230095 16 Feb 2016 Disease Schwartz-Jampel Syndrome, Type 7 CN230096 16 Feb 2016 Disease Schwartz-Jampel Syndrome, Type 8 CN230097 16 Feb 2016 Disease Schwartz-Jampel Syndrome, Type 9 CN230092 16 Feb 2016 Disease SCIANNA BLOOD GROUP SYSTEM, SC:-1,-2 16 Feb 2016 Blood group SCIANNA BLOOD GROUP SYSTEM, SC:-1,2 16 Feb 2016 Blood group Sciatic neuropathy MONDO C0149940 MONDO:0006960 17 Apr 2020 Disease Sciatica Human Phenotype Ontology C0036396 HP:0011868 16 Feb 2016 Finding SCID due to ADA deficiency, delayed onset NCBI curation CN042911 16 Feb 2016 Disease SCID due to ADA deficiency, late-onset NCBI curation CN042912 16 Feb 2016 Disease SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionizing radiation due to NHEJ1 deficiency NCBI curation 16 Feb 2016 Disease SCID, autosomal recessive, T-negative/B-positive type 15 Nov 2019 Disease Scimitar anomaly Human Phenotype Ontology C0036400 HP:0011626 04 Apr 2018 Finding Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities NCBI curation C1842315 608281 16 Feb 2016 Disease Scimitar syndrome 28 Jun 2019 Finding Scintillating scotoma Human Phenotype Ontology C0235068 HP:0010822 16 Feb 2016 Finding Scirrhous adenocarcinoma MONDO C0007135 MONDO:0005953 17 Apr 2020 Disease Scirrhous breast carcinoma MONDO C0346151 MONDO:0004288 17 Apr 2020 Disease Scissor gait Human Phenotype Ontology C0231698 HP:0012407 16 Feb 2016 Finding Scleral disease MONDO C0036412 MONDO:0001269 17 Apr 2020 Disease Scleral rupture Human Phenotype Ontology C0339200 HP:0025513 04 Apr 2018 Finding Scleral schwannoma Human Phenotype Ontology C4022390 HP:0100011 16 Feb 2016 Finding Scleral staphyloma Human Phenotype Ontology C0155359 HP:0030854 02 Apr 2017 Finding Scleral thickening Human Phenotype Ontology C2674403 HP:0030823 02 Apr 2017 Finding Scleredema 16 Feb 2016 Disease Sclerema neonatorum MONDO C0036415 MONDO:0043783 17 Apr 2020 Disease Scleritis Human Phenotype Ontology C0036416 HP:0100532 16 Feb 2016 Finding Sclerocornea Human Phenotype Ontology C1853235 HP:0000647 16 Feb 2016 Finding Sclerocornea, autosomal dominant NCBI curation C1866984 181700 16 Feb 2016 Disease Sclerocornea, Syndactyly, ambiguous genitalia 16 Feb 2016 Disease Sclerodactyly Human Phenotype Ontology C0150988 HP:0011838 16 Feb 2016 Finding Scleroderma Human Phenotype Ontology C0011644 HP:0100324 16 Feb 2016 Finding Scleroderma, familial progressive NCBI curation C1866983 181750 16 Feb 2016 Disease Scleromalacia perforans MONDO C0155354 MONDO:0001914 17 Apr 2020 Disease Scleromyxedema 16 Feb 2016 Disease Scleromyxedema without monoclonal gammopathy MONDO CN206419 MONDO:0019585 17 Apr 2020 Disease Scleroperikeratitis MONDO C0155355 MONDO:0001816 17 Apr 2020 Disease Sclerosing adenosis of breast MONDO C1335931 MONDO:0004531 17 Apr 2020 Disease Sclerosing bone dysplasia mental retardation 16 Feb 2016 Disease Sclerosing Bone Dysplasias NCBI curation CN043667 16 Feb 2016 Disease Sclerosing breast papilloma MONDO C1335932 MONDO:0004421 17 Apr 2020 Disease Sclerosing cholangitis Human Phenotype Ontology C0008313 HP:0030991 04 Apr 2018 Finding Sclerosing cholangitis, neonatal NCBI curation C4479344 617394 20 Jun 2017 Disease Sclerosing hepatic carcinoma MONDO C1266018 MONDO:0003246 17 Apr 2020 Disease Sclerosing keratitis MONDO C0155090 MONDO:0001965 17 Apr 2020 Disease Sclerosing liposarcoma MONDO C0334469 MONDO:0003595 17 Apr 2020 Disease Sclerosing mesenteritis 16 Feb 2016 Disease Sclerosing perineurioma MONDO CN197320 MONDO:0015030 17 Apr 2020 Disease Sclerosis of 2nd finger phalanx Human Phenotype Ontology C4020937 HP:0100918 16 Feb 2016 Finding Sclerosis of 2nd toe phalanx Human Phenotype Ontology C4020930 HP:0100926 16 Feb 2016 Finding Sclerosis of 3rd finger phalanx Human Phenotype Ontology C4020936 HP:0100919 16 Feb 2016 Finding Sclerosis of 3rd toe phalanx Human Phenotype Ontology C4020929 HP:0100927 16 Feb 2016 Finding Sclerosis of 4th finger phalanx Human Phenotype Ontology C4020935 HP:0100920 16 Feb 2016 Finding Sclerosis of 4th toe phalanx Human Phenotype Ontology C4020928 HP:0100928 16 Feb 2016 Finding Sclerosis of 5th finger phalanx Human Phenotype Ontology C4020934 HP:0100921 16 Feb 2016 Finding Sclerosis of 5th toe phalanx Human Phenotype Ontology C4020927 HP:0100929 16 Feb 2016 Finding Sclerosis of distal finger phalanx Human Phenotype Ontology C4020940 HP:0100915 16 Feb 2016 Finding Sclerosis of distal toe phalanx Human Phenotype Ontology C4020923 HP:0100948 16 Feb 2016 Finding Sclerosis of finger phalanx Human Phenotype Ontology C4020941 HP:0100899 16 Feb 2016 Finding Sclerosis of foot bone Human Phenotype Ontology C4020931 HP:0100925 16 Feb 2016 Finding Sclerosis of hallux phalanx Human Phenotype Ontology C4020926 HP:0100930 16 Feb 2016 Finding Sclerosis of hand bone Human Phenotype Ontology C4021684 HP:0004054 16 Feb 2016 Finding Sclerosis of hand bones with transverse striations Human Phenotype Ontology C4025366 HP:0004290 16 Feb 2016 Finding Sclerosis of humeral diaphysis Human Phenotype Ontology C4025496 HP:0003933 16 Feb 2016 Finding Sclerosis of metaphyses of the upper limbs Human Phenotype Ontology C4025551 HP:0003854 16 Feb 2016 Finding Sclerosis of middle finger phalanx Human Phenotype Ontology C4020939 HP:0100916 16 Feb 2016 Finding Sclerosis of middle toe phalanx Human Phenotype Ontology C4020924 HP:0100947 16 Feb 2016 Finding Sclerosis of proximal finger phalanx Human Phenotype Ontology C4020938 HP:0100917 16 Feb 2016 Finding Sclerosis of proximal toe phalanx Human Phenotype Ontology C4020925 HP:0100946 16 Feb 2016 Finding Sclerosis of skull base Human Phenotype Ontology C1851714 HP:0002694 16 Feb 2016 Finding Sclerosis of the 1st metacarpal Human Phenotype Ontology C4021928 HP:0100914 16 Feb 2016 Finding Sclerosis of the 1st metatarsal Human Phenotype Ontology C4021913 HP:0100945 16 Feb 2016 Finding Sclerosis of the carpal bones Human Phenotype Ontology C4477088 HP:0500031 04 Apr 2018 Finding Sclerosis of the distal phalanx of the 2nd finger Human Phenotype Ontology C4021942 HP:0100900 16 Feb 2016 Finding Sclerosis of the distal phalanx of the 2nd toe Human Phenotype Ontology C4021919 HP:0100939 16 Feb 2016 Finding Sclerosis of the distal phalanx of the 3rd finger Human Phenotype Ontology C4021941 HP:0100901 16 Feb 2016 Finding Sclerosis of the distal phalanx of the 3rd toe Human Phenotype Ontology C4021918 HP:0100940 16 Feb 2016 Finding Sclerosis of the distal phalanx of the 4th finger Human Phenotype Ontology C4021940 HP:0100902 16 Feb 2016 Finding Sclerosis of the distal phalanx of the 4th toe Human Phenotype Ontology C4021917 HP:0100941 16 Feb 2016 Finding Sclerosis of the distal phalanx of the 5th finger Human Phenotype Ontology C4021939 HP:0100903 16 Feb 2016 Finding Sclerosis of the distal phalanx of the 5th toe Human Phenotype Ontology C4021916 HP:0100942 16 Feb 2016 Finding Sclerosis of the distal phalanx of the hallux Human Phenotype Ontology C4021914 HP:0100944 16 Feb 2016 Finding Sclerosis of the distal phalanx of the thumb Human Phenotype Ontology C4021930 HP:0100912 16 Feb 2016 Finding Sclerosis of the middle phalanx of the 2nd finger Human Phenotype Ontology C4021938 HP:0100904 16 Feb 2016 Finding Sclerosis of the middle phalanx of the 2nd toe Human Phenotype Ontology C4021923 HP:0100935 16 Feb 2016 Finding Sclerosis of the middle phalanx of the 3rd finger Human Phenotype Ontology C4021937 HP:0100905 16 Feb 2016 Finding Sclerosis of the middle phalanx of the 3rd toe Human Phenotype Ontology C4021922 HP:0100936 16 Feb 2016 Finding Sclerosis of the middle phalanx of the 4th finger Human Phenotype Ontology C4021936 HP:0100906 16 Feb 2016 Finding Sclerosis of the middle phalanx of the 4th toe Human Phenotype Ontology C4021921 HP:0100937 16 Feb 2016 Finding Sclerosis of the middle phalanx of the 5th finger Human Phenotype Ontology C4021935 HP:0100907 16 Feb 2016 Finding Sclerosis of the middle phalanx of the 5th toe Human Phenotype Ontology C4021920 HP:0100938 16 Feb 2016 Finding Sclerosis of the proximal phalanx of the 2nd finger Human Phenotype Ontology C4021934 HP:0100908 16 Feb 2016 Finding Sclerosis of the proximal phalanx of the 2nd toe Human Phenotype Ontology C4021927 HP:0100931 16 Feb 2016 Finding Sclerosis of the proximal phalanx of the 3rd finger Human Phenotype Ontology C4021933 HP:0100909 16 Feb 2016 Finding Sclerosis of the proximal phalanx of the 3rd toe Human Phenotype Ontology C4021926 HP:0100932 16 Feb 2016 Finding Sclerosis of the proximal phalanx of the 4th finger Human Phenotype Ontology C4021932 HP:0100910 16 Feb 2016 Finding Sclerosis of the proximal phalanx of the 4th toe Human Phenotype Ontology C4021925 HP:0100933 16 Feb 2016 Finding Sclerosis of the proximal phalanx of the 5th finger Human Phenotype Ontology C4021931 HP:0100911 16 Feb 2016 Finding Sclerosis of the proximal phalanx of the 5th toe Human Phenotype Ontology C4021924 HP:0100934 16 Feb 2016 Finding Sclerosis of the proximal phalanx of the hallux Human Phenotype Ontology C4021915 HP:0100943 16 Feb 2016 Finding Sclerosis of the proximal phalanx of the thumb Human Phenotype Ontology C4021929 HP:0100913 16 Feb 2016 Finding Sclerosis of thumb phalanx Human Phenotype Ontology C4020933 HP:0100922 16 Feb 2016 Finding Sclerosis of toe phalanx Human Phenotype Ontology C4020932 HP:0100924 16 Feb 2016 Finding Sclerosis with transverse striations in metaphyses of the upper limbs Human Phenotype Ontology C4025552 HP:0003853 16 Feb 2016 Finding Sclerosteosis OMIM phenotypic series C0265301 PS269500 27 Oct 2017 Disease Sclerosteosis 1 NCBI curation C4551483 269500 27 Oct 2017 Disease Sclerosteosis 2 NCBI curation C3280402 614305 16 Feb 2016 Disease Sclerotic cranial sutures Human Phenotype Ontology C4025195 HP:0005441 16 Feb 2016 Finding Sclerotic foci in forearm bones Human Phenotype Ontology C4025473 HP:0003966 16 Feb 2016 Finding Sclerotic foci in hand bones Human Phenotype Ontology C4025367 HP:0004289 16 Feb 2016 Finding Sclerotic foci of humeral diaphysis Human Phenotype Ontology C4025497 HP:0003932 16 Feb 2016 Finding Sclerotic foci of metaphyses of the elbow Human Phenotype Ontology C4021702 HP:0003952 16 Feb 2016 Finding Sclerotic foci of the humerus Human Phenotype Ontology C4021717 HP:0003880 16 Feb 2016 Finding Sclerotic foci within carpal bones Human Phenotype Ontology C4025398 HP:0004240 16 Feb 2016 Finding Sclerotic forearm bones Human Phenotype Ontology C4025472 HP:0003967 16 Feb 2016 Finding Sclerotic humeral metaphysis Human Phenotype Ontology C4025509 HP:0003918 16 Feb 2016 Finding Sclerotic humeral metaphysis with longitudinal striations Human Phenotype Ontology C4025508 HP:0003919 16 Feb 2016 Finding Sclerotic radial epiphyses Human Phenotype Ontology C4025450 HP:0004007 16 Feb 2016 Finding Sclerotic radial metaphysis with longitudinal striations Human Phenotype Ontology C4025438 HP:0004022 16 Feb 2016 Finding Sclerotic scapulae Human Phenotype Ontology C1849263 HP:0001474 16 Feb 2016 Finding Sclerotic vertebral endplates Human Phenotype Ontology C4551970 HP:0004576 16 Feb 2016 Finding SCN10A-Related Disorder 13 Oct 2017 Disease SCN1A-Related Disorders 25 May 2020 Disease SCN1B-Related Disorder 11 Oct 2018 Disease SCN2A-related condition 27 Apr 2018 Finding SCN2A-related disorder 29 Aug 2019 Disease SCN2A-related generalized epilepsy with febrile seizures plus NCBI curation CN120574 16 Feb 2016 Disease SCN3A- Related Disorder 13 Oct 2017 Disease SCN4A-related disorder 13 Oct 2017 Disease SCN5A-Related Arrhythmias 23 May 2019 Disease SCN5A-related disorder 13 Oct 2017 Disease SCN5A-Related Disorders CN239302 02 Dec 2016 Disease SCN8A-related disorder 13 Oct 2017 Disease SCN8A-related epileptic disorder 21 Aug 2018 Disease SCNN1A-Related Disorders 23 May 2019 Disease SCO1-Related Disorders 23 May 2019 Disease Scoliosis Human Phenotype Ontology C0036439 HP:0002650 16 Feb 2016 Finding Scoliosis as part of NF 16 Feb 2016 Disease Scoliosis with unilateral unsegmented bar 16 Feb 2016 Disease Scoliosis, arachnodactyly, and blindness NCBI curation C2676234 612445 16 Feb 2016 Disease Scoliosis, idiopathic 3 NCBI curation C1837461 608765 16 Feb 2016 Disease Scoliosis, isolated, susceptibility to, 1 NCBI curation C2700406 181800 24 Aug 2016 Disease Scoliosis, isolated, susceptibility to, 2 NCBI curation C1846366 607354 24 Aug 2016 Disease Scoliosis, isolated, susceptibility to, 4 NCBI curation C2677108 612238 24 Aug 2016 Disease Scoliosis, isolated, susceptibility to, 5 NCBI curation C2677107 612239 24 Aug 2016 Disease scoliosis. 05 Sep 2018 Finding Scorpion envenomation MONDO CN242103 MONDO:0018755 17 Apr 2020 Disease Scotoma Human Phenotype Ontology C0036454 HP:0000575 16 Feb 2016 Finding Scotoma (disease) MONDO MONDO:0004758 17 Apr 2020 Disease SCOTT SYNDROME OMIM C0796149 262890 262890 09 May 2016 Disease Scra1 NCBI curation 16 Feb 2016 Disease Scrapie MONDO C0036457 MONDO:0006961 04 Jun 2020 Infectious disease Screening for genetic disease carrier status NCBI curation CN239553 08 Dec 2016 Finding Screw worm infectious disease MONDO CN281798 MONDO:0005954 04 Jun 2020 Infectious disease Screwdriver-shaped incisors Human Phenotype Ontology C4025058 HP:0006346 16 Feb 2016 Finding Scrotal carcinoma MONDO C1370468 MONDO:0002650 17 Apr 2020 Disease Scrotal disease MONDO C0268919 MONDO:0045003 17 Apr 2020 Disease Scrotal hemangioma MONDO C1335936 MONDO:0003951 17 Apr 2020 Disease Scrotal hyperpigmentation Human Phenotype Ontology C4021062 HP:0012855 16 Feb 2016 Finding Scrotal hypoplasia Human Phenotype Ontology C0431659 HP:0000046 16 Feb 2016 Finding Scrotal hypospadias Human Phenotype Ontology C2197691 HP:0012853 16 Feb 2016 Finding Scrotal pain Human Phenotype Ontology C0236078 HP:0030155 16 Feb 2016 Finding Scrotum basal cell carcinoma MONDO C1335934 MONDO:0002936 17 Apr 2020 Disease Scrotum cancer MONDO C0153604 MONDO:0021112 17 Apr 2020 Disease Scrotum melanoma MONDO C1331544 MONDO:0001652 17 Apr 2020 Disease Scrotum Paget disease MONDO C0238330 MONDO:0002649 17 Apr 2020 Disease Scrotum squamous cell carcinoma MONDO C0349551 MONDO:0001651 17 Apr 2020 Disease Scrub typhus MONDO C0036472 MONDO:0019365 04 Jun 2020 Infectious disease Scurvy C0036474 240400 16 Feb 2016 Disease SDCCAG8-Related Disorders 23 May 2019 Disease SDHA-Related Disorders 23 May 2019 Disease SDHB-Related Disorders CN239418 02 Dec 2016 Disease Sea-blue histiocyte syndrome C0036489 269600 16 Feb 2016 Disease Seasonal affective disorder NCBI curation C0085159 16 Feb 2016 Disease Seasonal allergic rhinitis MONDO MONDO:0005324 17 Apr 2020 Disease Seasonal allergy Human Phenotype Ontology C0018621 HP:0012395 16 Feb 2016 Finding Seaver Cassidy syndrome 16 Feb 2016 Disease Sebaceous basal cell carcinoma MONDO MONDO:0002942 17 Apr 2020 Disease Sebaceous breast carcinoma MONDO C1519207 MONDO:0003635 17 Apr 2020 Disease Sebaceous gland anomaly MONDO CN227614 MONDO:0019286 17 Apr 2020 Disease Sebaceous gland cancer MONDO C1382026 MONDO:0037735 17 Apr 2020 Disease Sebaceous gland carcinoma Human Phenotype Ontology C0206684 HP:0030410 16 Feb 2016 Finding Sebaceous gland disease MONDO C0036502 MONDO:0006607 17 Apr 2020 Disease Sebaceous gland hyperplasia, familial presenile C1866428 601700 16 Feb 2016 Disease Sebaceous gland neoplasm MONDO C0036503 MONDO:0006963 17 Apr 2020 Disease Sebaceous tumors, somatic NCBI curation C1835244 16 Feb 2016 Disease Seborrhea-like dermatitis with psoriasiform elements NCBI curation C1853258 610227 16 Feb 2016 Disease Seborrheic dermatitis Human Phenotype Ontology C0036508 HP:0001051 16 Feb 2016 Finding Seborrheic keratosis Human Phenotype Ontology C4282032 HP:0031287 04 Apr 2018 Finding Seborrheic keratosis MONDO C0022603 MONDO:0008420 182000 09 May 2020 Disease Secernentea Infections 16 Feb 2016 Disease Seckel like syndrome Majoor-Krakauer type 16 Feb 2016 Disease Seckel syndrome OMIM phenotypic series C0265202 PS210600 16 Feb 2016 Disease Seckel syndrome 1 NCBI curation C4551474 210600 16 Feb 2016 Disease Seckel syndrome 10 NCBI curation C4310647 617253 20 Jun 2017 Disease Seckel syndrome 2 NCBI curation C1847572 606744 16 Feb 2016 Disease Seckel syndrome 4 NCBI curation C3888212 613676 16 Feb 2016 Disease Seckel syndrome 5 NCBI curation C3151187 613823 16 Feb 2016 Disease Seckel syndrome 6 NCBI curation C3553582 614728 16 Feb 2016 Disease Seckel syndrome 7 NCBI curation C3553870 614851 16 Feb 2016 Disease Seckel syndrome 8 NCBI curation C3891452 615807 16 Feb 2016 Disease Seckel syndrome 9 NCBI curation C4225212 616777 16 Feb 2016 Disease Second degree atrioventricular block Human Phenotype Ontology C0264906 HP:0011706 16 Feb 2016 Finding second heart sound 05 Sep 2019 Finding Second metatarsal posteriorly placed Human Phenotype Ontology C1859224 HP:0008125 16 Feb 2016 Finding Second metatarsal-metacarpal syndrome NCBI curation C1849259 269630 16 Feb 2016 Disease Secondary acute transverse myelitis MONDO CN199396 MONDO:0015343 17 Apr 2020 Disease Secondary amenorrhea Human Phenotype Ontology C0232940 HP:0000869 16 Feb 2016 Finding Secondary antiphospholipid syndrome MONDO C0409983 MONDO:0021008 17 Apr 2020 Disease Secondary avascular necrosis MONDO CN229154 MONDO:0018374 17 Apr 2020 Disease Secondary biliary cirrhosis 16 Feb 2016 Disease Secondary Caesarian section Human Phenotype Ontology C4072904 HP:0030364 16 Feb 2016 Finding Secondary carcinoma MONDO C0085668 MONDO:0024878 17 Apr 2020 Disease Secondary catabolic mucinosis of skin MONDO C1274173 MONDO:0021655 17 Apr 2020 Disease Secondary central precocious puberty MONDO CN200226 MONDO:0015714 17 Apr 2020 Disease Secondary corneal edema MONDO C0155110 MONDO:0001181 17 Apr 2020 Disease Secondary dentine MONDO C0011434 MONDO:0020818 17 Apr 2020 Disease Secondary dysgenetic glaucoma MONDO CN229284 MONDO:0020216 17 Apr 2020 Disease Secondary dysgenetic glaucoma associated with neural crest cell migration anomaly MONDO MONDO:0020217 17 Apr 2020 Disease Secondary ectropion MONDO CN261570 MONDO:0020162 17 Apr 2020 Disease Secondary entropion MONDO MONDO:0020160 17 Apr 2020 Disease Secondary glaucoma NCBI curation C0149893 01 Sep 2017 Disease Secondary glaucoma due to a proliferation and differentiation anomaly MONDO MONDO:0020221 17 Apr 2020 Disease Secondary glomerular disease MONDO MONDO:0019724 17 Apr 2020 Disease Secondary growth hormone deficiency Human Phenotype Ontology C4024716 HP:0008240 16 Feb 2016 Finding Secondary hemophagocytic lymphohistiocytosis MONDO C4054044 MONDO:0015542 07 Jun 2020 Disease Secondary hyperaldosteronism Human Phenotype Ontology C0271728 HP:0011741 16 Feb 2016 Finding Secondary hypercorticolism Human Phenotype Ontology C4023207 HP:0011744 16 Feb 2016 Finding Secondary hypereosinophilic syndrome MONDO CN203809 MONDO:0017834 17 Apr 2020 Disease Secondary hyperparathyroidism Human Phenotype Ontology C0020503 HP:0000867 16 Feb 2016 Finding Secondary hyperparathyroidism of renal origin MONDO C0271847 MONDO:0001530 17 Apr 2020 Disease Secondary hypertension MONDO C0155616 MONDO:0001200 17 Apr 2020 Disease Secondary hypertrophic osteoarthropathy MONDO C0029412 MONDO:0006965 17 Apr 2020 Disease Secondary hypoparathyroidism due to impaired parathormon secretion MONDO CN242104 MONDO:0015357 17 Apr 2020 Disease Secondary hypothyroidism C0271789 275100 16 Feb 2016 Disease Secondary interstitial lung disease in childhood and adulthood MONDO CN202346 MONDO:0017034 17 Apr 2020 Disease Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease MONDO CN200522 MONDO:0015928 17 Apr 2020 Disease Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease MONDO CN202348 MONDO:0017037 17 Apr 2020 Disease Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease MONDO CN202347 MONDO:0017035 17 Apr 2020 Disease Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis MONDO CN202349 MONDO:0017038 17 Apr 2020 Disease Secondary interstitial lung disease specific to adulthood associated with a systemic disease MONDO CN202340 MONDO:0017028 17 Apr 2020 Disease Secondary interstitial lung disease specific to childhood associated with a connective tissue disease MONDO CN202334 MONDO:0017021 17 Apr 2020 Disease Secondary interstitial lung disease specific to childhood associated with a granulomatous disease MONDO CN202336 MONDO:0017023 17 Apr 2020 Disease Secondary interstitial lung disease specific to childhood associated with a metabolic disease MONDO CN202337 MONDO:0017024 17 Apr 2020 Disease Secondary interstitial lung disease specific to childhood associated with a systemic disease MONDO CN202333 MONDO:0017020 17 Apr 2020 Disease Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis MONDO CN202335 MONDO:0017022 17 Apr 2020 Disease Secondary intestinal lymphangiectasia MONDO C4273969 MONDO:0019574 17 Apr 2020 Disease Secondary lacrimal atrophy MONDO MONDO:0002124 17 Apr 2020 Disease Secondary leukemia NCBI curation C0856053 16 Feb 2016 Disease Secondary malignant neoplasm MONDO C3266877 MONDO:0024881 17 Apr 2020 Disease Secondary mast cell activation syndrome MONDO MONDO:0100006 17 Apr 2020 Disease Secondary neonatal autoimmune disease MONDO CN226097 MONDO:0018356 17 Apr 2020 Disease Secondary neoplasm MONDO MONDO:0024882 17 Apr 2020 Disease Secondary non-traumatic avascular necrosis MONDO C5192430 MONDO:0018376 17 Apr 2020 Disease Secondary Parkinson disease MONDO C0030569 MONDO:0006966 17 Apr 2020 Disease Secondary polyarteritis nodosa MONDO CN237624 MONDO:0018594 17 Apr 2020 Disease Secondary polycythemia MONDO C1318533 MONDO:0020115 17 Apr 2020 Disease Secondary progressive multiple sclerosis MONDO C0751965 MONDO:0000450 17 Apr 2020 Disease Secondary pulmonary alveolar proteinosis MONDO C3873302 MONDO:0018483 17 Apr 2020 Disease Secondary pulmonary hemosiderosis MONDO C4274326 MONDO:0020553 17 Apr 2020 Disease Secondary sclerosing cholangitis MONDO C0400978 MONDO:0018647 17 Apr 2020 Disease Secondary short bowel syndrome MONDO CN206757 MONDO:0019802 17 Apr 2020 Disease Secondary syphilis MONDO C0149985 MONDO:0002897 04 Jun 2020 Infectious disease Secondary syringomyelia MONDO C4749399 MONDO:0020509 17 Apr 2020 Disease Secondary vasculitis MONDO CN237697 MONDO:0018640 17 Apr 2020 Disease Secondary vitreoretinal degeneration MONDO C0154859 MONDO:0001457 17 Apr 2020 Disease SECRETOR/NONSECRETOR POLYMORPHISM 16 Feb 2016 Disease SECRETOR/NONSECRETOR POLYMORPHISM, JAPANESE TYPE 16 Feb 2016 Disease Secretory adrenocortical adenoma Human Phenotype Ontology C4021125 HP:0011746 16 Feb 2016 Finding Secretory apparatus of the lacrimal system anomaly MONDO MONDO:0020193 17 Apr 2020 Disease Secretory diarrhea Human Phenotype Ontology C0267557 HP:0005208 16 Feb 2016 Finding Secretory diarrhea, myopathy, and deafness NCBI curation C1843757 607540 16 Feb 2016 Disease Secretory meningioma MONDO C1384406 MONDO:0003055 17 Apr 2020 Disease Secretory piece deficiency C0398709 269650 16 Feb 2016 Disease Secretory uterine corpus endometrioid adenocarcinoma MONDO C1336907 MONDO:0004174 17 Apr 2020 Disease Sectoral retinitis pigmentosa Human Phenotype Ontology C4477018 HP:0031172 04 Apr 2018 Finding Secundum atrial septal defect Human Phenotype Ontology C0344724 HP:0001684 12 May 2017 Disease Sedoheptulokinase deficiency NCBI curation C1291373 617213 20 Jun 2017 Disease See cases NCBI curation 16 Feb 2016 phenotype instruction Seemanova Lesny syndrome 16 Feb 2016 Disease Seemanova syndrome i NCBI curation 16 Feb 2016 Disease Seesaw nystagmus Human Phenotype Ontology C0344243 HP:0012044 16 Feb 2016 Finding Segawa syndrome, autosomal recessive C1854299 605407 16 Feb 2016 Disease Seghers syndrome 16 Feb 2016 Disease Segmental dystonia MONDO C1997740 MONDO:0000479 17 Apr 2020 Disease Segmental myoclonic seizures Human Phenotype Ontology C4476644 HP:0025191 02 Apr 2017 Finding Segmental odontomaxillary dysplasia MONDO C3698531 MONDO:0019029 17 Apr 2020 Disease Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome MONDO C4706610 MONDO:0015293 17 Apr 2020 Disease Segmental overgrowth CN232393 16 Feb 2016 Finding Segmental peripheral demyelination Human Phenotype Ontology C4024938 HP:0007107 16 Feb 2016 Finding Segmental peripheral demyelination/remyelination Human Phenotype Ontology C1843077 HP:0003481 16 Feb 2016 Finding Segmental progressive overgrowth syndrome with fibroadipose hyperplasia MONDO C5192432 MONDO:0017812 17 Apr 2020 Disease Segmental vertebral anomalies 16 Feb 2016 Disease Segmentation syndrome 1 16 Feb 2016 Disease Segregation analysis CN235624 24 Mar 2016 Finding Seizure NCBI curation CN178372 16 Feb 2016 Disease Seizure adverse event NCBI curation C1959629 17 Sep 2017 Finding Seizure disorder CN228288 16 Feb 2016 Finding seizure-like activity 05 Sep 2019 Finding seizure-like episodes 26 Feb 2020 Finding Seizures Human Phenotype Ontology C0036572 HP:0001250 16 Feb 2016 Finding Seizures and lactic acidosis NCBI curation C4016603 16 Feb 2016 Disease Seizures benign familial neonatal recessive form 16 Feb 2016 Disease Seizures mental retardation hair dysplasia 16 Feb 2016 Disease Seizures, benign familial infantile, 1 NCBI curation C4551769 601764 24 Aug 2016 Disease Seizures, benign familial infantile, 2 NCBI curation C1853995 605751 16 Feb 2016 Disease Seizures, benign familial infantile, 4 NCBI curation C2675462 612627 16 Feb 2016 Disease Seizures, benign familial infantile, 5 NCBI curation C4310728 617080 24 Aug 2016 Disease Seizures, benign familial infantile, 6 NCBI curation CN244555 23 Apr 2018 Disease Seizures, benign familial neonatal, 1, and/or myokymia NCBI curation C3149075 16 Feb 2016 Disease Seizures, benign familial neonatal, 3 NCBI curation C1842382 608217 16 Feb 2016 Disease Seizures, benign familial neonatal, autosomal recessive NCBI curation C1849250 269720 16 Feb 2016 Disease Seizures, benign neonatal, 1 CN259084 17 Jun 2019 Disease Seizures, benign neonatal, 2 CN259085 17 Jun 2019 Disease Seizures, cortical blindness, and microcephaly syndrome NCBI curation C4225261 616632 16 Feb 2016 Disease SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS OMIM CN280930 618875 618875 17 May 2020 Disease Seizures, focal motor, tonic 23 Jan 2020 Finding Seizures, generalized tonic-clonic, myoclonic, tonic, atonic, unclassified 23 Jan 2020 Finding Seizures, nocturnal generalized clonic, focal motor 23 Jan 2020 Finding Seizures, scoliosis, and macrocephaly syndrome NCBI curation C4225248 616682 16 Feb 2016 Disease Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome CN239180 02 Dec 2016 Disease Seizures/Epilepsy CN232555 16 Feb 2016 Finding Seizures/Epilepsy _ CN232549 16 Feb 2016 Finding Seizures/Epilepsy _ Allergy/Immunologic/Infectious (child onset) CN232475 16 Feb 2016 Finding Seizures/Epilepsy _ Audiologic/Otolaryngologic (child onset) CN232492 16 Feb 2016 Finding Seizures/Epilepsy _ Cardiovascular (child onset) CN232505 16 Feb 2016 Finding Seizures/Epilepsy _ Craniofacial (child onset) CN232508 16 Feb 2016 Finding Seizures/Epilepsy _ Endocrine (child onset) CN232512 16 Feb 2016 Finding Seizures/Epilepsy _ Gastrointestinal (child onset) CN232516 16 Feb 2016 Finding Seizures/Epilepsy _ Genitourinary (child onset) CN232518 16 Feb 2016 Finding Seizures/Epilepsy _ Metabolic/ Biochemical (child onset) CN232495 16 Feb 2016 Finding Seizures/Epilepsy _ Musculoskeletal/Structural (child onset) CN232525 16 Feb 2016 Finding Seizures/Epilepsy _ Neurologic (child onset) CN232529 16 Feb 2016 Finding Seizures/epilespy CN236426 13 May 2016 Finding SELECTIN P POLYMORPHISM 16 Feb 2016 Disease selective beta-2-adrenoreceptor agonists response - Efficacy PharmGKB CN236448 655386945 18 May 2016 Pharmacological response Selective IgA deficiency disease MONDO MONDO:0001341 17 Apr 2020 Disease Selective IgD deficiency disease MONDO C0398695 MONDO:0004165 17 Apr 2020 Disease Selective IgE deficiency disease MONDO C0398694 MONDO:0003738 17 Apr 2020 Disease Selective IgG subclass deficiency MONDO MONDO:0001901 17 Apr 2020 Disease Selective IgM deficiency MONDO C0154275 MONDO:0018039 17 Apr 2020 Disease Selective immunoglobulin deficiency disease MONDO C1335942 MONDO:0003739 17 Apr 2020 Disease Selective peripheral resistance to thyroid hormone MONDO MONDO:0020711 17 Apr 2020 Disease Selective serotonin reuptake inhibitor (SSRI) response NCBI curation CN221268 16 Feb 2016 Pharmacological response Selective serotonin reuptake inhibitors response - Efficacy PharmGKB CN236561 637880425 18 May 2016 Pharmacological response Selective tooth agenesis Human Phenotype Ontology C1970308 HP:0001592 16 Feb 2016 Finding Selective tooth agenesis 1 NCBI curation C3489529 106600 16 Feb 2016 Disease Selenium poisoning 16 Feb 2016 Disease SELENON-related myopathy MONDO MONDO:0100100 17 Apr 2020 Disease self-aggressive behaviors 22 Aug 2019 Finding Self-biting Human Phenotype Ontology C0424375 HP:0012169 16 Feb 2016 Finding Self-healing collodion baby NCBI curation C1855789 16 Feb 2016 Disease Self-healing papular mucinosis MONDO CN229195 MONDO:0019582 17 Apr 2020 Disease Self-injurious behavior Human Phenotype Ontology C0085271 HP:0100716 16 Feb 2016 Finding Self-injury C0424366 23 Jan 2020 Finding Self-limited familial and non-familial infantile seizures MONDO MONDO:0100024 17 Apr 2020 Disease Self-limited familial and non-familial neonatal seizures MONDO MONDO:0100023 17 Apr 2020 Disease Self-mutilation Human Phenotype Ontology C0036601 HP:0000742 16 Feb 2016 Finding Self-mutilation of tongue and lips due to involuntary movements Human Phenotype Ontology C1860219 HP:0008767 16 Feb 2016 Finding Self-neglect Human Phenotype Ontology C0424359 HP:0025479 04 Apr 2018 Finding Self-perceived ability NCBI curation 16 Feb 2016 Disease Selig Benacerraf Greene syndrome 16 Feb 2016 Disease Sella turcica neoplasm MONDO C0748616 MONDO:0002720 17 Apr 2020 Disease Sella turcica, bridged MONDO C1866959 MONDO:0008424 182200 22 Apr 2020 Disease sellar metastasis from primary bronchial carcinoid tumor 11 Jun 2020 Disease Semantic agnosia MONDO MONDO:0000677 17 Apr 2020 Disease Semantic dementia Human Phenotype Ontology C0338462 HP:0030219 16 Feb 2016 Finding Semicircular canal dehiscence syndrome MONDO C4708600 MONDO:0018484 17 Apr 2020 Disease Semilobar holoprosencephaly Human Phenotype Ontology C0751617 HP:0002507 16 Feb 2016 Finding Seminal vesicle acute gonorrhea MONDO C0153194 MONDO:0000222 04 Jun 2020 Infectious disease Seminal vesicle adenocarcinoma MONDO C1519233 MONDO:0001993 17 Apr 2020 Disease Seminal vesicle chronic gonorrhea MONDO C0153205 MONDO:0001025 04 Jun 2020 Infectious disease Seminal vesicle cystadenoma MONDO C1519234 MONDO:0003609 17 Apr 2020 Disease Seminal vesicle tumor MONDO C0341767 MONDO:0002790 17 Apr 2020 Disease Semmekrot Haraldsson Weemaes syndrome 16 Feb 2016 Disease Sener syndrome C1853616 606156 16 Feb 2016 Disease Sengers syndrome NCBI curation C1859317 212350 28 Feb 2019 Disease Senile atrophy of choroid MONDO C0154891 MONDO:0004879 17 Apr 2020 Disease Senile cataract MONDO MONDO:0004847 17 Apr 2020 Disease Senile degeneration of brain MONDO C0154669 MONDO:0001987 17 Apr 2020 Disease Senile ectropion MONDO C0155193 MONDO:0001695 17 Apr 2020 Disease Senile entropion MONDO C0155188 MONDO:0001591 17 Apr 2020 Disease Senile plaque formation NCBI curation C1849249 269800 16 Feb 2016 Disease Senile plaques Human Phenotype Ontology C0333463 HP:0100256 16 Feb 2016 Finding Senile reticular retinal degeneration MONDO C0154857 MONDO:0001453 17 Apr 2020 Disease Senior Loken syndrome 12 Feb 2020 Disease Senior-Boichis syndrome MONDO C4274018 MONDO:0019394 17 Apr 2020 Disease Senior-Loken syndrome 1 NCBI curation C4551559 266900 16 Feb 2016 Disease Senior-Loken Syndrome 10 CN229793 16 Feb 2016 Disease Senior-Loken Syndrome 11 CN229788 16 Feb 2016 Disease Senior-Loken Syndrome 12 CN229789 16 Feb 2016 Disease Senior-Loken Syndrome 13 CN229790 16 Feb 2016 Disease Senior-Loken Syndrome 14 CN229791 16 Feb 2016 Disease Senior-Loken Syndrome 15 CN229787 16 Feb 2016 Disease Senior-Loken syndrome 3 NCBI curation C1846980 606995 16 Feb 2016 Disease Senior-Loken syndrome 4 NCBI curation C1846979 606996 16 Feb 2016 Disease Senior-Loken syndrome 5 NCBI curation C1836517 609254 16 Feb 2016 Disease Senior-Loken syndrome 6 NCBI curation C1857779 610189 16 Feb 2016 Disease Senior-Loken syndrome 7 NCBI curation C3150877 613615 16 Feb 2016 Disease Senior-Loken syndrome 8 NCBI curation C4225376 616307 23 Oct 2016 Disease Senior-Loken syndrome 9 NCBI curation C4225263 616629 23 Oct 2016 Disease Sennetsu fever C0520779 16 Feb 2016 Infectious disease Sense of smell impaired NCBI curation 16 Feb 2016 Disease sensorial deficiencies CN188070 16 Feb 2016 Finding sensorimotor axonal polyneuropathy CN233200 16 Feb 2016 Finding Sensorimotor neuropathy Human Phenotype Ontology C1112256 HP:0007141 16 Feb 2016 Finding Sensorimotor polyneuropathy affecting arms more than legs Human Phenotype Ontology C4024974 HP:0006865 16 Feb 2016 Finding Sensorineural deafness and migraine NCBI curation C4016609 16 Feb 2016 Disease Sensorineural deafness with hypertrophic cardiomyopathy NCBI curation C3501265 16 Feb 2016 Disease Sensorineural deafness with mild renal dysfunction NCBI curation C2748440 09 Jan 2017 Disease Sensorineural hearing loss Human Phenotype Ontology C0018784 HP:0000407 10 Apr 2018 Disease sensorineural hearing loss, late onset CN196729 16 Feb 2016 Finding Sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth NCBI curation C1865645 602340 16 Feb 2016 Disease Sensorineural hearing loss-early graying-essential tremor syndrome MONDO C4510044 MONDO:0019022 17 Apr 2020 Disease Sensory ataxia Human Phenotype Ontology C0240991 HP:0010871 16 Feb 2016 Finding Sensory ataxic neuropathy Human Phenotype Ontology C1843859 HP:0003434 16 Feb 2016 Finding Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome MONDO C1843851 MONDO:0011835 607459 17 Apr 2020 Disease Sensory axonal neuropathy Human Phenotype Ontology C1842587 HP:0003390 16 Feb 2016 Finding sensory difficulties 05 Sep 2019 Finding sensory disorder 05 Sep 2019 Disease Sensory ganglionopathy MONDO MONDO:0021260 17 Apr 2020 Disease sensory hypersensitivity 05 Sep 2019 Finding Sensory impairment Human Phenotype Ontology C0020580 HP:0003474 16 Feb 2016 Finding sensory integration disorder C1960557 18 Jan 2019 Finding sensory integration disorder of childhood 05 Sep 2019 Finding sensory integration dysfunction 05 Sep 2019 Finding sensory modulation dysfunction 05 Sep 2019 Finding Sensory neuropathy Human Phenotype Ontology C0151313 HP:0000763 16 Feb 2016 Finding Sensory neuropathy type 1 16 Feb 2016 Disease Sensory Neuropathy with Spastic Paraplegia CN239462 02 Dec 2016 Disease Sensory organ benign neoplasm MONDO MONDO:0000633 17 Apr 2020 Disease sensory processing disorder 05 Sep 2019 Finding Sensory system cancer MONDO MONDO:0000649 17 Apr 2020 Disease Seow Najjar syndrome 16 Feb 2016 Disease Separate origin of the left anterior descending and left circumflex artery Human Phenotype Ontology C4531059 HP:0031536 04 Apr 2018 Finding Separation anxiety disorder MONDO MONDO:0001098 17 Apr 2020 Disease Separation insecurity Human Phenotype Ontology C4531099 HP:0031468 04 Apr 2018 Finding Sephardic-Mizrahi Jewish diseases NCBI curation CN263166 18 Jan 2020 Disease SEPN1-Related Disorders CN239420 02 Dec 2016 Disease Sepsis Human Phenotype Ontology C0036690 HP:0100806 16 Feb 2016 Finding Sepsis, susceptibility to NCBI curation 16 Feb 2016 Disease Septal hypertrophy C0442887 15 Mar 2016 Finding Septal myocardial infarction MONDO MONDO:0003671 17 Apr 2020 Disease Septate vagina Human Phenotype Ontology C0266411 HP:0001153 16 Feb 2016 Finding Septic arthritis Human Phenotype Ontology C0003869 HP:0003095 16 Feb 2016 Finding Septic peritonitis MONDO CN281758 MONDO:0005195 04 Jun 2020 Infectious disease Septic shock, susceptibility to NCBI curation 16 Feb 2016 Disease Septicemic plague MONDO C0152936 MONDO:0005956 04 Jun 2020 Infectious disease Septo-optic dysplasia sequence C0338503 182230 16 Feb 2016 Disease Septooptic dysplasia, mild NCBI curation C4016761 16 Feb 2016 Disease Septopreoptic holoprosencephaly MONDO CN202699 MONDO:0017218 17 Apr 2020 Disease Sequeiros Sack syndrome 16 Feb 2016 Disease Seres-Santamaria Arimany Muniz syndrome 16 Feb 2016 Disease Serious digitalis intoxication 16 Feb 2016 Disease Serkal syndrome C2678492 611812 16 Feb 2016 Disease Seroconversion for toxoplasma at 3 months of pregnancy 23 Jan 2020 Finding Serositis Human Phenotype Ontology C0036749 HP:0045073 02 Apr 2017 Finding SEROTONIN 5-HT-2C RECEPTOR POLYMORPHISM 16 Feb 2016 Disease Serotonin syndrome MONDO MONDO:0018546 17 Apr 2020 Disease Serotonin transporter activity, increased/decreased NCBI curation C4016375 16 Feb 2016 Disease Serotonin, whole blood level of, quantitative trait locus NCBI curation 16 Feb 2016 Disease Serous adenofibroma MONDO C0334498 MONDO:0024886 17 Apr 2020 Disease Serous breast cancer, grade IIIC 08 May 2020 Finding Serous conjunctivitis except viral MONDO C0155142 MONDO:0001219 17 Apr 2020 Disease Serous cystadenofibroma MONDO MONDO:0005182 17 Apr 2020 Disease Serous cystadenoma MONDO C0206709 MONDO:0005177 17 Apr 2020 Disease Serous glue ear MONDO C0155421 MONDO:0001213 17 Apr 2020 Disease serous high grade ovarian cancer 08 May 2020 Finding Serous labyrinthitis MONDO C0155504 MONDO:0002006 17 Apr 2020 Disease Serous neoplasm MONDO C1335951 MONDO:0037256 17 Apr 2020 Disease Serous or mucinous cystadenoma of childhood MONDO CN200857 MONDO:0016092 17 Apr 2020 Disease Serous otitis media MONDO C0271453 MONDO:0021203 17 Apr 2020 Disease Serous pericardial effusion Human Phenotype Ontology C4023160 HP:0011853 16 Feb 2016 Finding Serous surface papilloma MONDO C0334360 MONDO:0002362 17 Apr 2020 Disease Serpentine fibula Human Phenotype Ontology C3805325 HP:0030045 16 Feb 2016 Finding Serpiginous choroiditis C0729842 16 Feb 2016 Disease Serpiginous crus of helix Human Phenotype Ontology C4021183 HP:0011257 16 Feb 2016 Finding Serpiginous cutaneous lesion Human Phenotype Ontology C4476832 HP:0025527 04 Apr 2018 Finding Serpiginous stem of antihelix Human Phenotype Ontology C4021193 HP:0011241 16 Feb 2016 Finding Serpinopathy MONDO CN261089 MONDO:0027749 17 Apr 2020 Disease Serpinopathy with loss of serpin function MONDO CN262075 MONDO:0027751 17 Apr 2020 Disease Serpinopathy with toxic serpin polymerization MONDO CN262076 MONDO:0027750 17 Apr 2020 Disease Sertoli cell neoplasm Human Phenotype Ontology C4020704 HP:0100619 16 Feb 2016 Finding Sertoli cell tumor MONDO C0036769 MONDO:0002696 17 Apr 2020 Disease Sertoli cell tumor cancer CN235593 19 Mar 2016 Finding SERTOLI CELL-ONLY SYNDROME, TYPE II 16 Feb 2016 Disease Sertoli-Leydig cell tumor MONDO C0206723 MONDO:0002479 17 Apr 2020 Disease Sertoli-leydig cell tumors 16 Feb 2016 Disease Sertraline response NCBI curation CN221265 16 Feb 2016 Pharmacological response Serum amyloid a variant NCBI curation 16 Feb 2016 Disease Serum calcium level NCBI curation 16 Feb 2016 Finding SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF NCBI curation 19 May 2016 Disease Serum immunoglobulin E concentration NCBI curation C1840252 147061 16 Feb 2016 Disease Serum level of adiponectin 1 NCBI curation C2675517 612556 16 Feb 2016 Disease Serum sickness MONDO C0036830 MONDO:0043789 17 Apr 2020 Disease SeSAME-like syndrome 24 Oct 2019 Disease Sessile serrated polyposis cancer syndrome NCBI curation C4310714 617108 20 Jun 2017 Disease Setariasis MONDO C0036850 MONDO:0005957 04 Jun 2020 Infectious disease SETBP1-Related Disorder 13 Oct 2017 Disease Setting-sun eye phenomenon Human Phenotype Ontology C0423128 HP:0012470 16 Feb 2016 Finding Setting-sun phenomenon, familial benign NCBI curation C1833577 600598 16 Feb 2016 Disease SETX-Related Disorders CN239403 02 Dec 2016 Disease Sever Foot defect 19 Jul 2019 Finding SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS 16 Feb 2016 Disease Severe achondroplasia with developmental delay and acanthosis nigricans NCBI curation C2674173 616482 16 Feb 2016 Disease Severe acute respiratory syndrome C1175175 16 Feb 2016 Infectious disease Severe acute respiratory syndrome, progression of NCBI curation C1862877 16 Feb 2016 Disease severe and debilitating arthropathy CN230447 16 Feb 2016 Finding severe asthenozoospermia 29 Apr 2020 Finding severe atrophy 20 Jun 2019 Finding Severe autosomal recessive muscular dystrophy of childhood - North African type C0410173 253700 16 Feb 2016 Disease Severe B lymphocytopenia Human Phenotype Ontology C1863715 HP:0005365 16 Feb 2016 Finding Severe brain malformation CN228280 16 Feb 2016 Finding Severe cachexia 29 Sep 2017 Finding Severe Canavan disease MONDO CN203803 MONDO:0017830 17 Apr 2020 Disease Severe carpal ossification delay Human Phenotype Ontology C1866703 HP:0006069 16 Feb 2016 Finding Severe cerebellar hypoplasia CN228281 16 Feb 2016 Finding severe cognitive delay 13 Feb 2020 Finding Severe Combined Immune Deficiency CN239264 02 Dec 2016 Disease severe combined immunodeficiency 19 Jan 2019 Finding Severe combined immunodeficiency disease C0085110 16 Feb 2016 Disease Severe combined immunodeficiency due to ADA deficiency NCBI curation C1863236 102700 16 Feb 2016 Disease Severe combined immunodeficiency due to CARMIL2 deficiency MONDO C4748304 MONDO:0029134 618131 17 Apr 2020 Disease Severe combined immunodeficiency due to CD70 deficiency MONDO C4748863 MONDO:0034054 618261 17 Apr 2020 Disease Severe combined immunodeficiency due to DCLRE1C deficiency MONDO C1865370 MONDO:0011225 602450 17 Apr 2020 Disease Severe combined immunodeficiency due to IL2 deficiency CN236392 29 Apr 2016 Disease Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation NCBI curation C1969799 611291 16 Feb 2016 Disease Severe combined immunodeficiency with sensitivity to ionizing radiation due to nhej1 deficiency NCBI curation CN068458 16 Feb 2016 Disease Severe combined immunodeficiency, athabascan-type NCBI curation C1865371 16 Feb 2016 Disease Severe combined immunodeficiency, athabaskan-type NCBI curation 16 Feb 2016 Disease Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency NCBI curation C0392607 16 Feb 2016 Disease Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive MONDO C1832322 MONDO:0011086 601457 22 Apr 2020 Disease Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative NCBI curation C1833275 600802 16 Feb 2016 Disease Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive NCBI curation C1837028 608971 16 Feb 2016 Disease Severe combined immunodeficiency, B cell-negative NCBI curation C1867362 18 Oct 2016 Disease Severe combined immunodeficiency, partial NCBI curation C1865373 16 Feb 2016 Disease Severe conductive hearing impairment Human Phenotype Ontology C4021074 HP:0012717 16 Feb 2016 Finding Severe congenital nemaline myopathy MONDO CN200269 MONDO:0015735 17 Apr 2020 Disease Severe congenital neutropenia Orphanet C1853118 ORPHA42738 16 Feb 2016 Disease Severe congenital neutropenia 2, autosomal dominant NCBI curation C2751288 613107 16 Feb 2016 Disease Severe congenital neutropenia 3, autosomal recessive NCBI curation CN032247 610738 16 Feb 2016 Disease Severe congenital neutropenia 4, autosomal recessive NCBI curation C2675526 612541 16 Feb 2016 Disease Severe congenital neutropenia 5, autosomal recessive NCBI curation C3809031 615285 16 Feb 2016 Disease Severe congenital neutropenia 6, autosomal recessive NCBI curation C4014954 616022 16 Feb 2016 Disease Severe constipation ages 12 mo - 2 years, resolved 23 Jan 2020 Finding Severe cutaneous adverse reaction MONDO MONDO:0005594 17 Apr 2020 Disease Severe cystic degeneration of the brain CN228278 16 Feb 2016 Finding severe delay in bone healing 05 Sep 2019 Finding Severe demyelination of the white matter Human Phenotype Ontology C1856001 HP:0007258 16 Feb 2016 Finding Severe developmental delay 23 Feb 2018 Finding severe developmental disability CN232329 16 Feb 2016 Finding Severe dystonia CN228291 16 Feb 2016 Finding Severe early-onset axonal neuropathy due to MFN2 deficiency MONDO C4707897 MONDO:0019549 17 Apr 2020 Disease Severe early-onset axonal neuropathy due to NEFL deficiency MONDO C4749824 MONDO:0016454 17 Apr 2020 Disease Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency MONDO C5190989 MONDO:0017994 17 Apr 2020 Disease Severe epiphyseal and metaphyseal changes for lower limbs 19 Sep 2019 Finding Severe expressive language delay Human Phenotype Ontology C1851085 HP:0006863 16 Feb 2016 Finding Severe failure to thrive Human Phenotype Ontology C1855514 HP:0001525 16 Feb 2016 Finding severe feeding problems CN219580 16 Feb 2016 Finding Severe feeding problems/failure to thrive CN235257 19 Feb 2016 Finding Severe flexion contractures of the right ring and left index fingers 26 Jul 2019 Finding Severe foot defect 26 Jul 2019 Finding Severe gastroesophageal reflux C1857946 16 Feb 2016 Finding Severe generalized osteoporosis Human Phenotype Ontology C1859443 HP:0005897 16 Feb 2016 Finding Severe global developmental delay Human Phenotype Ontology C1837397 HP:0011344 16 Feb 2016 Finding Severe hearing impairment Human Phenotype Ontology C3874334 HP:0012714 16 Feb 2016 Finding Severe hearing loss CN228592 16 Feb 2016 Finding Severe hemophilia B MONDO CN200227 MONDO:0015715 17 Apr 2020 Disease Severe hydrocephalus Human Phenotype Ontology C3278123 HP:0006882 16 Feb 2016 Finding Severe hydrops fetalis Human Phenotype Ontology C1866048 HP:0005099 16 Feb 2016 Finding severe hypotonia with abnormal brain MRI findings 19 Jul 2018 Finding Severe hypotonic syndrome with hyporeflexia 01 Nov 2018 Finding severe ID CN219809 16 Feb 2016 Finding Severe infantile axonal neuropathy 16 Feb 2016 Disease Severe intellectual deficiency CN239858 11 Jan 2017 Disease Severe intellectual disability and progressive spastic paraplegia MONDO C4755264 MONDO:0017241 17 Apr 2020 Disease Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia MONDO CN206730 MONDO:0019786 17 Apr 2020 Disease Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome MONDO CN237585 MONDO:0018572 17 Apr 2020 Disease Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO C4751568 MONDO:0018347 17 Apr 2020 Disease Severe intrauterine growth retardation Human Phenotype Ontology C1855843 HP:0008846 16 Feb 2016 Finding Severe lactic acidosis Human Phenotype Ontology C1839436 HP:0004900 16 Feb 2016 Finding Severe language delay CN232695 16 Feb 2016 Finding Severe lateral tibial bowing with short stature MONDO C4707850 MONDO:0017927 17 Apr 2020 Disease Severe limb shortening Human Phenotype Ontology C1835446 HP:0200083 16 Feb 2016 Finding Severe manic bipolar I disorder with psychotic features C0236770 18 Jan 2019 Finding Severe mental retardation and absent nails of hallux and pollex 16 Feb 2016 Disease Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome MONDO C5190778 MONDO:0015252 17 Apr 2020 Disease severe microcephaly CN233212 16 Feb 2016 Finding Severe microlissencephaly CN228309 16 Feb 2016 Finding Severe Micromelia 18 Jan 2019 Finding severe motor delay CN232328 16 Feb 2016 Finding Severe muscular hypotonia Human Phenotype Ontology C1839630 HP:0006829 16 Feb 2016 Finding Severe myoclonic epilepsy in infancy NCBI curation C4551549 607208 16 Feb 2016 Disease severe myopathy with dystonia 15 Nov 2019 Finding Severe Myopia Human Phenotype Ontology C0271183 HP:0011003 16 Feb 2016 Finding Severe neonatal hypotonia improving with age NCBI curation C1867861 13 Sep 2018 Finding Severe neonatal hypotonia in males Human Phenotype Ontology HP:0006830 16 Feb 2016 Finding Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion MONDO C4708510 MONDO:0017811 17 Apr 2020 Disease Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency MONDO C4750855 MONDO:0018337 17 Apr 2020 Disease Severe neonatal-onset encephalopathy with microcephaly Orphanet C1968556 ORPHA209370 300673 16 Oct 2017 Disease Severe neurodevelopmental delay 15 Aug 2019 Finding severe non-syndromic intellectual disability CN189738 16 Feb 2016 Finding Severe nonproliferative diabetic retinopathy MONDO C0730278 MONDO:0004687 17 Apr 2020 Disease severe oligozoospermia 29 Apr 2020 Finding severe osteolysis of the distal radius and ulna, carpal bones, metacarpal bones, and phalanges 13 Feb 2020 Finding Severe periodontitis Human Phenotype Ontology C4025886 HP:0000166 16 Feb 2016 Finding severe persistent asthma 05 Sep 2019 Disease Severe phosphoribosylpyrophosphate synthetase superactivity MONDO CN237444 MONDO:0018464 17 Apr 2020 Disease Severe photosensitivity Human Phenotype Ontology C1849186 HP:0007537 16 Feb 2016 Finding Severe platyspondyly Human Phenotype Ontology C1850293 HP:0004565 16 Feb 2016 Finding Severe polycystic kidney disease 07 May 2020 Finding severe post visual pathway dysfunction CN238734 19 Oct 2016 Finding Severe postnatal growth retardation Human Phenotype Ontology C1857641 HP:0008850 16 Feb 2016 Finding Severe pre-eclampsia MONDO C0341950 MONDO:0001641 17 Apr 2020 Disease Severe primary microcephaly CN228308 16 Feb 2016 Finding Severe primary trimethylaminuria MONDO CN242109 MONDO:0018767 17 Apr 2020 Disease severe psychomotor delay C1854919 16 Feb 2016 Finding Severe receptive language delay Human Phenotype Ontology C3532947 HP:0011352 16 Feb 2016 Finding severe scoliosis 26 Feb 2020 Finding Severe sensorineural hearing impairment Human Phenotype Ontology C4021533 HP:0008625 16 Feb 2016 Finding Severe short stature Human Phenotype Ontology C0013336 HP:0003510 19 Mar 2018 Disease Severe short-limb dwarfism Human Phenotype Ontology C1860105 HP:0008890 16 Feb 2016 Finding Severe speech delay C1968537 16 Feb 2016 Finding severe speech impairment 20 Sep 2018 Finding Severe T lymphocytopenia C1832327 16 Feb 2016 Finding Severe T-cell immunodeficiency Human Phenotype Ontology C4025208 HP:0005352 16 Feb 2016 Finding Severe temper tantrums Human Phenotype Ontology C4476627 HP:0025162 02 Apr 2017 Finding Severe underweight in infancy childhood and adolescence C4305438 07 May 2020 Disease Severe viral infections Human Phenotype Ontology C3277428 HP:0005364 16 Feb 2016 Finding Severe visual impairment Human Phenotype Ontology C1301509 HP:0001141 16 Feb 2016 Finding Severe X-linked intellectual disability, Gustavson type MONDO C0795965 MONDO:0010661 309555 17 Apr 2020 Disease Severe X-linked myotubular myopathy NCBI curation C0410203 310400 16 Feb 2016 Disease Severe, childhood onset obesity CN234580 16 Feb 2016 Finding severe, generalized edema C4759548 13 Feb 2020 Finding Severely dysplastic cerebellum Human Phenotype Ontology C4024969 HP:0006893 16 Feb 2016 Finding Severely Impaired Language Development CN238357 02 Sep 2016 Finding Severely reduced ejection fraction Human Phenotype Ontology C4022790 HP:0012666 16 Feb 2016 Finding Sevoflurane response CN263360 10 Mar 2020 Pharmacological response sevoflurane response - Toxicity/ADR PharmGKB 1447676001PA451341 28 Jun 2019 Pharmacological response Sex chromosome disorder of sex development MONDO C2936421 MONDO:0017975 17 Apr 2020 Disease Sex cord-stromal tumor NCBI curation C0206724 16 Feb 2016 Disease Sex hormone-binding globulin circulating level quantitative trait locus NCBI curation C3150748 613498 16 Feb 2016 Disease Sex Hormone-Binding Globulin Deficiency C4054031 16 Jun 2020 Disease Sex hormone-producing adrenal cortex adenoma MONDO C1710067 MONDO:0006408 17 Apr 2020 Disease Sex reversal Human Phenotype Ontology C4022995 HP:0012245 16 Feb 2016 Finding Sex-linked disease MONDO MONDO:0020606 17 Apr 2020 Disease Sex-linked hereditary disorder NCBI curation C0949683 16 Feb 2016 Disease Sexual and gender identity disorders MONDO C0236989 MONDO:0000595 17 Apr 2020 Disease Sexual masochism disorder MONDO MONDO:0001139 17 Apr 2020 Disease Sexual sadism disorder MONDO MONDO:0001132 17 Apr 2020 Disease Sexually transmitted disease MONDO C0036916 MONDO:0021681 04 Jun 2020 Infectious disease Sezary syndrome NCBI curation C0036920 16 Feb 2016 Disease Seziures 24 Jun 2020 Disease SH3TC2-Related Disorders CN239303 02 Dec 2016 Disease Shagreen patch Human Phenotype Ontology C0432363 HP:0009721 16 Feb 2016 Finding Shaheen syndrome NCBI curation C3809160 615328 16 Feb 2016 Disease shaken baby syndrome 05 Sep 2019 Finding Shallow acetabular fossae Human Phenotype Ontology C1854910 HP:0003182 16 Feb 2016 Finding Shallow anterior chamber Human Phenotype Ontology C0423276 HP:0000594 16 Feb 2016 Finding Shallow anterior chambers CN232374 16 Feb 2016 Finding Shallow orbits Human Phenotype Ontology C1865244 HP:0000586 16 Feb 2016 Finding SHANK3-Related Disorder 13 Oct 2017 Disease Shanmuga added for testing NCBI curation 07 Jan 2020 Disease Shanmuga added for testing as it cannot be tested on dev NCBI curation 07 Jan 2020 Disease Shapiro syndrome 16 Feb 2016 Disease Sharma Kapoor Ramji syndrome 16 Feb 2016 Disease Sharp syndrome 16 Feb 2016 Disease Shashi-Pena syndrome NCBI curation C4310672 617190 20 Jun 2017 Disease Shawl scrotum Human Phenotype Ontology C1858539 HP:0000049 16 Feb 2016 Finding Shawl sign Human Phenotype Ontology C4476837 HP:0025535 04 Apr 2018 Finding SHBG deficiency 16 Jun 2020 Finding Sheehan syndrome C0242342 16 Feb 2016 Disease Sheep disease MONDO C0036946 MONDO:0024985 17 Apr 2020 Disease Shell teeth Human Phenotype Ontology C2981132 HP:0000694 16 Feb 2016 Finding Shellfish allergy MONDO C0577625 MONDO:0000770 17 Apr 2020 Disease Shield chest Human Phenotype Ontology C1834124 HP:0000914 16 Feb 2016 Finding Shigellosis C0013371 16 Feb 2016 Infectious disease Shith Filkins syndrome 16 Feb 2016 Disease Shivering Human Phenotype Ontology C0036973 HP:0025144 02 Apr 2017 Finding Shock Human Phenotype Ontology C0036974 HP:0031273 04 Apr 2018 Finding Shoe-shaped sella turcica Human Phenotype Ontology C4025147 HP:0005723 16 Feb 2016 Finding Shone complex NCBI curation C1868705 12 Sep 2018 Disease shone's complex 18 Jan 2019 Finding Short 1st metacarpal Human Phenotype Ontology C1849311 HP:0010034 16 Feb 2016 Finding Short 2nd finger Human Phenotype Ontology C1862142 HP:0009536 16 Feb 2016 Finding Short 2nd metacarpal Human Phenotype Ontology C1969397 HP:0010038 16 Feb 2016 Finding Short 2nd toe Human Phenotype Ontology C4021769 HP:0001885 16 Feb 2016 Finding Short 3rd finger Human Phenotype Ontology C4021469 HP:0009461 16 Feb 2016 Finding Short 3rd metacarpal Human Phenotype Ontology C1850631 HP:0010041 16 Feb 2016 Finding Short 3rd toe Human Phenotype Ontology C4021628 HP:0005643 16 Feb 2016 Finding Short 4th finger Human Phenotype Ontology C4021502 HP:0009280 16 Feb 2016 Finding Short 4th metacarpal Human Phenotype Ontology C1840309 HP:0010044 16 Feb 2016 Finding Short 5th finger Human Phenotype Ontology C1842878 HP:0009237 16 Feb 2016 Finding Short 5th metacarpal Human Phenotype Ontology C1861388 HP:0010047 16 Feb 2016 Finding Short 5th toe Human Phenotype Ontology C4021111 HP:0011917 16 Feb 2016 Finding Short and broad metacarpals CN240359 27 Jan 2017 Finding Short and broad phalanges CN240360 27 Jan 2017 Finding short and flat nasal bridge with round nasal tip 22 Aug 2019 Finding Short and smooth philtrum 23 Jan 2020 Finding Short attention span Human Phenotype Ontology C0262630 HP:0000736 16 Feb 2016 Finding short back nose 22 Aug 2019 Finding short back nose with anteverted nostrils 22 Aug 2019 Finding Short bowel syndrome C0036992 16 Feb 2016 Disease Short broad great toe macrocranium 16 Feb 2016 Disease Short chin Human Phenotype Ontology C3697248 HP:0000331 16 Feb 2016 Finding Short chordae tendineae of the mitral valve Human Phenotype Ontology C4023288 HP:0011580 16 Feb 2016 Finding Short chordae tendineae of the tricuspid valve Human Phenotype Ontology C4025001 HP:0006692 16 Feb 2016 Finding Short clavicles Human Phenotype Ontology C0426799 HP:0000894 16 Feb 2016 Finding Short columella Human Phenotype Ontology C1857479 HP:0002000 16 Feb 2016 Finding Short corpus callosum Human Phenotype Ontology C4021902 HP:0200012 16 Feb 2016 Finding short deep philtrum 21 Jun 2020 Finding Short dental roots Human Phenotype Ontology C2678330 HP:0006336 16 Feb 2016 Finding Short diaphyses Human Phenotype Ontology C4025815 HP:0000941 16 Feb 2016 Finding Short digit Human Phenotype Ontology C4023124 HP:0011927 16 Feb 2016 Finding Short distal phalanx of finger Human Phenotype Ontology C1839829 HP:0009882 16 Feb 2016 Finding Short distal phalanx of hallux Human Phenotype Ontology C4021335 HP:0010103 16 Feb 2016 Finding Short distal phalanx of the 2nd finger Human Phenotype Ontology C4021438 HP:0009566 16 Feb 2016 Finding Short distal phalanx of the 2nd toe Human Phenotype Ontology C4021267 HP:0010433 16 Feb 2016 Finding Short distal phalanx of the 3rd finger Human Phenotype Ontology C4021681 HP:0004180 16 Feb 2016 Finding Short distal phalanx of the 3rd toe Human Phenotype Ontology C4021008 HP:0100389 16 Feb 2016 Finding Short distal phalanx of the 4th finger Human Phenotype Ontology C4021499 HP:0009290 16 Feb 2016 Finding Short distal phalanx of the 4th toe Human Phenotype Ontology C4021007 HP:0100390 16 Feb 2016 Finding Short distal phalanx of the 5th finger Human Phenotype Ontology C1836674 HP:0004227 16 Feb 2016 Finding Short distal phalanx of the 5th toe Human Phenotype Ontology C4021006 HP:0100391 16 Feb 2016 Finding Short distal phalanx of the thumb Human Phenotype Ontology C1862313 HP:0009650 16 Feb 2016 Finding Short distal phalanx of toe Human Phenotype Ontology C4021771 HP:0001857 16 Feb 2016 Finding Short ear Human Phenotype Ontology C3551041 HP:0400005 16 Feb 2016 Finding short extremities C0239399 19 Oct 2016 Finding Short eyelashes Human Phenotype Ontology C2748682 HP:0010764 16 Feb 2016 Finding Short face Human Phenotype Ontology C4023457 HP:0011219 16 Feb 2016 Finding Short femoral neck Human Phenotype Ontology C1836184 HP:0100864 16 Feb 2016 Finding Short femur Human Phenotype Ontology C0345375 HP:0003097 16 Feb 2016 Finding Short fetal femur length Human Phenotype Ontology C0743924 HP:0011428 16 Feb 2016 Finding Short fetal humerus length Human Phenotype Ontology C4023364 HP:0011429 16 Feb 2016 Finding Short fifth metacarpals-insulin resistance syndrome MONDO CN205478 MONDO:0019017 17 Apr 2020 Disease Short fifth metatarsal Human Phenotype Ontology C4021649 HP:0004704 16 Feb 2016 Finding short filtrum 22 Aug 2019 Finding Short finger Human Phenotype Ontology C1844548 HP:0009381 16 Feb 2016 Finding short fingers 24 Nov 2017 Finding Short first metatarsal Human Phenotype Ontology C1841688 HP:0010105 16 Feb 2016 Finding short fissures 22 Aug 2019 Finding Short foot Human Phenotype Ontology C1848673 HP:0001773 16 Feb 2016 Finding Short forearm Human Phenotype Ontology C4551978 HP:0005773 16 Feb 2016 Finding Short fourth metatarsal Human Phenotype Ontology C1848514 HP:0004689 16 Feb 2016 Finding Short hallux Human Phenotype Ontology C1865992 HP:0010109 16 Feb 2016 Finding Short hard palate Human Phenotype Ontology C4023918 HP:0010290 16 Feb 2016 Finding Short humerus Human Phenotype Ontology C1832117 HP:0005792 16 Feb 2016 Finding Short iliac bones Human Phenotype Ontology C1849063 HP:0100866 16 Feb 2016 Finding Short intermamillary distance Human Phenotype Ontology C4022411 HP:0040158 16 Feb 2016 Finding Short limb dwarf edema iris coloboma 16 Feb 2016 Disease Short limb dwarf lethal Colavita Kozlowski type C2931544 16 Feb 2016 Disease Short limb dwarf lethal Mcalister Crane type 16 Feb 2016 Disease Short limb dwarfis CN240362 27 Jan 2017 Finding Short limbs abnormal face congenital heart disease 16 Feb 2016 Disease Short limbs subluxed knees cleft palate 16 Feb 2016 Disease Short lingual frenulum Human Phenotype Ontology C0426501 HP:0000200 16 Feb 2016 Finding Short long bone Human Phenotype Ontology CN210031 HP:0003026 16 Feb 2016 Finding short long bones C1854912 16 Feb 2016 Finding Short long bones MedGen UID:344385 22 Jun 2020 Finding Short lower eyelashes Human Phenotype Ontology C4022463 HP:0040055 16 Feb 2016 Finding Short lower limbs Human Phenotype Ontology C0426901 HP:0006385 16 Feb 2016 Finding Short mandibular condyles Human Phenotype Ontology C4025134 HP:0005790 16 Feb 2016 Finding Short mandibular rami Human Phenotype Ontology C1841648 HP:0003778 16 Feb 2016 Finding Short metacarpal Human Phenotype Ontology C1837084 HP:0010049 16 Feb 2016 Finding Short metacarpals with rounded proximal ends Human Phenotype Ontology C1856471 HP:0006161 16 Feb 2016 Finding short metacarpels 18 Aug 2017 Finding Short metatarsal Human Phenotype Ontology C1849020 HP:0010743 16 Feb 2016 Finding Short middle face 23 Jan 2020 Finding Short middle phalanx of finger Human Phenotype Ontology C1846950 HP:0005819 16 Feb 2016 Finding Short middle phalanx of the 2nd finger Human Phenotype Ontology C4021435 HP:0009577 16 Feb 2016 Finding Short middle phalanx of the 2nd toe Human Phenotype Ontology C4021266 HP:0010435 16 Feb 2016 Finding Short middle phalanx of the 3rd finger Human Phenotype Ontology C4021474 HP:0009439 16 Feb 2016 Finding Short middle phalanx of the 3rd toe Human Phenotype Ontology C4021005 HP:0100392 16 Feb 2016 Finding Short middle phalanx of the 4th finger Human Phenotype Ontology C4021497 HP:0009295 16 Feb 2016 Finding Short middle phalanx of the 4th toe Human Phenotype Ontology C4021004 HP:0100393 16 Feb 2016 Finding Short middle phalanx of the 5th finger Human Phenotype Ontology C1834060 HP:0004220 16 Feb 2016 Finding Short middle phalanx of the 5th toe Human Phenotype Ontology C4021003 HP:0100394 16 Feb 2016 Finding Short middle phalanx of toe Human Phenotype Ontology C4021723 HP:0003795 16 Feb 2016 Finding Short nail Human Phenotype Ontology C0423808 HP:0001799 16 Feb 2016 Finding Short nasal bridge Human Phenotype Ontology C1854689 HP:0003194 16 Feb 2016 Finding Short nasal septum Human Phenotype Ontology C1844857 HP:0000420 16 Feb 2016 Finding Short neck Human Phenotype Ontology C0521525 HP:0000470 16 Feb 2016 Finding Short nose Human Phenotype Ontology C1854114 HP:0003196 16 Feb 2016 Finding Short nose with anteverted nares 23 Jan 2020 Finding short overriding toes CN238756 19 Oct 2016 Finding Short palm Human Phenotype Ontology C1843108 HP:0004279 16 Feb 2016 Finding Short palpebral fissure Human Phenotype Ontology C0423112 HP:0012745 16 Feb 2016 Finding Short phalanx of finger Human Phenotype Ontology C0877165 HP:0009803 16 Feb 2016 Finding Short phalanx of hallux Human Phenotype Ontology C4021334 HP:0010111 16 Feb 2016 Finding Short phalanx of the 2nd toe Human Phenotype Ontology C4021269 HP:0010431 16 Feb 2016 Finding Short phalanx of the 3rd toe Human Phenotype Ontology C4021014 HP:0100366 16 Feb 2016 Finding Short phalanx of the 4th toe Human Phenotype Ontology C4021013 HP:0100367 16 Feb 2016 Finding Short phalanx of the 5th toe Human Phenotype Ontology C4021012 HP:0100368 16 Feb 2016 Finding Short phalanx of the thumb Human Phenotype Ontology C4021411 HP:0009660 16 Feb 2016 Finding Short philtrum Human Phenotype Ontology C1861324 HP:0000322 16 Feb 2016 Finding Short pointed phalanges Human Phenotype Ontology C1849740 HP:0006045 16 Feb 2016 Finding Short proximal phalanx of finger Human Phenotype Ontology C1860606 HP:0010241 16 Feb 2016 Finding Short proximal phalanx of hallux Human Phenotype Ontology C1862159 HP:0010107 16 Feb 2016 Finding Short proximal phalanx of the 2nd finger Human Phenotype Ontology C4021430 HP:0009597 16 Feb 2016 Finding Short proximal phalanx of the 2nd toe Human Phenotype Ontology C4021265 HP:0010437 16 Feb 2016 Finding Short proximal phalanx of the 3rd finger Human Phenotype Ontology C4021470 HP:0009459 16 Feb 2016 Finding Short proximal phalanx of the 3rd toe Human Phenotype Ontology C4021002 HP:0100395 16 Feb 2016 Finding Short proximal phalanx of the 4th finger Human Phenotype Ontology C4021496 HP:0009301 16 Feb 2016 Finding Short proximal phalanx of the 4th toe Human Phenotype Ontology C4021001 HP:0100396 16 Feb 2016 Finding Short proximal phalanx of the 5th finger Human Phenotype Ontology C4021509 HP:0009226 16 Feb 2016 Finding Short proximal phalanx of the 5th toe Human Phenotype Ontology C4021000 HP:0100397 16 Feb 2016 Finding Short proximal phalanx of thumb Human Phenotype Ontology C1855091 HP:0009638 16 Feb 2016 Finding Short proximal phalanx of toe Human Phenotype Ontology C4023123 HP:0011928 16 Feb 2016 Finding short QT syndrome NCBI curation C2348199 16 Feb 2016 Disease Short QT syndrome 1 NCBI curation C1865020 609620 16 Feb 2016 Disease Short QT syndrome 2 NCBI curation C1865019 609621 16 Feb 2016 Disease Short QT syndrome 3 NCBI curation C1865018 609622 16 Feb 2016 Disease Short QT Syndrome 4 CN239953 20 Jan 2017 Disease Short QT Syndrome 5 CN239954 20 Jan 2017 Disease Short rib dysplasia MONDO C0432195 MONDO:0019691 17 Apr 2020 Disease Short Rib Polydactyly Syndrome NCBI curation C0036996 02 Dec 2016 Disease Short rib polydactyly syndrome 5 NCBI curation C3279792 614091 16 Feb 2016 Disease Short rib-polydactyly syndrome, Majewski type C0024507 263520 16 Feb 2016 Disease Short ribs Human Phenotype Ontology C0426817 HP:0000773 16 Feb 2016 Finding Short ribs craniosynostosis polysyndactyly 16 Feb 2016 Disease Short sacroiliac notch Human Phenotype Ontology C1866689 HP:0003185 16 Feb 2016 Finding Short second metatarsal Human Phenotype Ontology C4023162 HP:0011845 16 Feb 2016 Finding Short sleep, familial natural, 1 NCBI curation C5200932 612975 02 Jan 2020 Disease SHORT SLEEP, FAMILIAL NATURAL, 2 OMIM C5231420 618591 618591 27 Sep 2019 Disease Short stature Human Phenotype Ontology C0349588 HP:0004322 16 Feb 2016 Finding Short stature (<2nd centile) CN235241 19 Feb 2016 Finding Short stature abnormal skin pigmentation mental retardation 16 Feb 2016 Disease Short stature and facioauriculothoracic malformations NCBI curation C1864791 609654 16 Feb 2016 Disease SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES OMIM C5231467 618702 618702 18 Dec 2019 Disease Short stature contractures hypotonia 16 Feb 2016 Disease Short stature cranial hyperostosis hepatomegaly 16 Feb 2016 Disease Short stature deafness neutrophil dysfunction 16 Feb 2016 Disease Short stature due to growth hormone qualitative anomaly MONDO C1849779 MONDO:0009879 262650 17 Apr 2020 Disease Short stature due to growth hormone secretagogue receptor deficiency NCBI curation C4707848 615925 20 Nov 2019 Disease Short stature dysmorphic face pelvic scapula dysplasia 16 Feb 2016 Disease Short stature hyperkaliemia acidosis 16 Feb 2016 Disease Short stature mental retardation eye anomalies 16 Feb 2016 Disease Short stature mental retardation eye defects 16 Feb 2016 Disease Short stature microcephaly seizures deafness 16 Feb 2016 Disease Short stature monodactylous ectrodactyly cleft palate 16 Feb 2016 Disease Short stature prognathism short femoral necks 16 Feb 2016 Disease Short stature Robin sequence cleft mandible hand anomalies clubfoot 16 Feb 2016 Disease Short stature talipes natal teeth 16 Feb 2016 Disease Short stature valvular heart disease 16 Feb 2016 Disease Short stature webbed neck heart disease 16 Feb 2016 Disease Short stature with microcephaly and distinctive facies NCBI curation C4014339 615789 16 Feb 2016 Disease Short stature with nonspecific skeletal abnormalities NCBI curation C4225399 616255 16 Feb 2016 Disease short stature with prenatal onset CN234610 16 Feb 2016 Disease Short stature wormian bones dextrocardia 16 Feb 2016 Disease SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS OMIM C5193055 618363 618363 21 Mar 2019 Disease Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities NCBI curation C1865361 602471 24 Aug 2016 Disease Short stature, brachydactyly, intellectual developmental disability, and seizures NCBI curation C4310689 617157 20 Jun 2017 Disease Short stature, Brussels type MONDO C1832439 MONDO:0011046 601350 17 Apr 2020 Disease Short stature, cranial hyperostosis, hepatomegaly and diabetes 16 Feb 2016 Disease Short stature, developmental delay, and congenital heart defects NCBI curation C1291328 617044 24 Aug 2016 Disease SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES OMIM C4693481 617877 617877 18 Feb 2018 Disease Short stature, idiopathic, autosomal NCBI curation C1858656 604271 16 Feb 2016 Disease Short stature, idiopathic, X-linked NCBI curation C1845118 300582 16 Feb 2016 Disease Short stature, mental retardation, callosal agenesis, heminasal hypoplasia, microphthalmia, and atypical clefting NCBI curation C1970039 605856 16 Feb 2016 Disease Short stature, microcephaly, and endocrine dysfunction NCBI curation C4225288 616541 16 Feb 2016 Disease Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis NCBI curation C3542022 614813 16 Feb 2016 Disease Short stature, optic nerve atrophy, and Pelger-Huet anomaly NCBI curation C3541319 614800 18 Jul 2017 Disease Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay NCBI curation C4310686 617164 20 Jun 2017 Disease Short stature-advanced bone age-early-onset osteoarthritis syndrome MONDO CN237575 MONDO:0018566 17 Apr 2020 Disease Short stature-craniofacial anomalies-genital hypoplasia syndrome MONDO C1867443 MONDO:0008335 177980 17 Apr 2020 Disease Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome MONDO CN202921 MONDO:0017316 17 Apr 2020 Disease Short stature-heart defect-craniofacial anomalies syndrome MONDO C2931050 MONDO:0015206 17 Apr 2020 Disease Short stature-obesity syndrome NCBI curation C1849235 269870 16 Feb 2016 Disease Short stature-pituitary and cerebellar defects-small sella turcica syndrome MONDO C2678408 MONDO:0009880 262700 17 Apr 2020 Disease Short stature-webbed neck-heart disease syndrome MONDO C2930950 MONDO:0017315 17 Apr 2020 Disease Short stepped shuffling gait Human Phenotype Ontology C3805715 HP:0007311 16 Feb 2016 Finding Short sternum Human Phenotype Ontology C0575497 HP:0000879 16 Feb 2016 Finding Short stubby fingers CN240363 27 Jan 2017 Finding SHORT syndrome C0878684 269880 16 Feb 2016 Disease Short tarsus-absence of lower eyelashes syndrome MONDO C1838328 MONDO:0010855 600269 17 Apr 2020 Disease Short telomere length Human Phenotype Ontology C4531138 HP:0031413 04 Apr 2018 Finding Short third metatarsal Human Phenotype Ontology C4021650 HP:0004686 16 Feb 2016 Finding Short thorax Human Phenotype Ontology C0426789 HP:0010306 16 Feb 2016 Finding Short thumb Human Phenotype Ontology C0431890 HP:0009778 16 Feb 2016 Finding Short tibia Human Phenotype Ontology C1850259 HP:0005736 16 Feb 2016 Finding Short toe Human Phenotype Ontology C1836195 HP:0001831 16 Feb 2016 Finding Short tongue ligament CN235224 19 Feb 2016 Finding Short tubular bones of the hand Human Phenotype Ontology C4025795 HP:0001248 02 Apr 2017 Finding Short umbilical cord Human Phenotype Ontology C0266786 HP:0001196 16 Feb 2016 Finding Short upper eyelashes Human Phenotype Ontology C4022464 HP:0040054 16 Feb 2016 Finding Short upper lip Human Phenotype Ontology C1848977 HP:0000188 16 Feb 2016 Finding Short uvula Human Phenotype Ontology C1401781 HP:0010812 16 Feb 2016 Finding Short well defined philtrum 23 Jan 2020 Finding short wide hands 17 Oct 2018 Finding Short-limb skeletal dysplasia with severe combined immunodeficiency MONDO C1860168 MONDO:0008704 200900 17 Apr 2020 Disease Short-rib polydactyly syndrome type I NCBI curation CN674506 08 Dec 2017 Disease Short-rib polydactyly syndrome type III NCBI curation C0432197 08 Dec 2017 Disease Short-rib thoracic dysplasia 1 with or without polydactyly NCBI curation C4551856 208500 08 Apr 2016 Disease Short-rib thoracic dysplasia 10 with or without polydactyly NCBI curation C3810175 615630 16 Feb 2016 Disease Short-rib thoracic dysplasia 10 with polydactyly NCBI curation C4017085 05 Nov 2017 Disease Short-rib thoracic dysplasia 10 without polydactyly NCBI curation C4017084 05 Nov 2017 Disease Short-rib thoracic dysplasia 11 with or without polydactyly NCBI curation C3810200 615633 16 Feb 2016 Disease Short-rib thoracic dysplasia 13 with or without polydactyly NCBI curation C4225378 616300 16 Feb 2016 Disease Short-rib thoracic dysplasia 14 with polydactyly NCBI curation C4225286 616546 16 Feb 2016 Disease Short-rib thoracic dysplasia 15 with polydactyly NCBI curation C4310724 617088 20 Jun 2017 Disease Short-rib thoracic dysplasia 16 with or without polydactyly NCBI curation C4310718 617102 20 Jun 2017 Disease Short-rib thoracic dysplasia 17 with or without polydactyly NCBI curation C4479416 617405 20 Jun 2017 Disease SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY OMIM C4693420 617866 617866 07 Feb 2018 Disease SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY OMIM C4693524 617895 617895 06 Mar 2018 Disease SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY 06 Mar 2018 Disease SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY OMIM C4693616 617925 617925 01 Apr 2018 Disease Short-rib thoracic dysplasia 3 with or without polydactyly NCBI curation C0036069 613091 16 Feb 2016 Disease SHORT-RIB THORACIC DYSPLASIA 4 WITH POLYDACTYLY 20 Jun 2018 Disease SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY 08 Feb 2018 Disease Short-rib thoracic dysplasia 7/20 with polydactyly, digenic NCBI curation 23 Apr 2018 Disease Short-rib thoracic dysplasia 8 with or without polydactyly NCBI curation C3809691 615503 24 Aug 2016 Disease Short-rib thoracic dysplasia without polydactyly NCBI curation C4017372 13 Dec 2018 Disease Short-segment aganglionic megacolon Human Phenotype Ontology C4023431 HP:0011284 16 Feb 2016 Finding Short-sleeper NCBI curation C5200931 02 Jan 2020 Disease Short/broad and webbed neck CN235513 15 Mar 2016 Finding shortened curved 2nd and 5th fingers 18 Aug 2017 Finding Shortened inner dynein arms Human Phenotype Ontology C4021890 HP:0200107 16 Feb 2016 Finding Shortened outer dynein arms Human Phenotype Ontology C4021889 HP:0200108 16 Feb 2016 Finding Shortened PR interval Human Phenotype Ontology C0520878 HP:0005165 16 Feb 2016 Finding Shortened QT interval Human Phenotype Ontology C0151879 HP:0012232 16 Feb 2016 Finding Shortening of all distal phalanges of the fingers Human Phenotype Ontology C4021608 HP:0006118 16 Feb 2016 Finding Shortening of all distal phalanges of the toes Human Phenotype Ontology C4025132 HP:0005793 16 Feb 2016 Finding Shortening of all metacarpals Human Phenotype Ontology C4025149 HP:0005720 16 Feb 2016 Finding Shortening of all middle phalanges of the fingers Human Phenotype Ontology C1856912 HP:0006110 16 Feb 2016 Finding Shortening of all middle phalanges of the toes Human Phenotype Ontology C4021605 HP:0006239 16 Feb 2016 Finding Shortening of all phalanges of fingers Human Phenotype Ontology C4023133 HP:0011910 16 Feb 2016 Finding Shortening of all phalanges of the toes Human Phenotype Ontology C4025257 HP:0005035 16 Feb 2016 Finding Shortening of all proximal phalanges of the fingers Human Phenotype Ontology C4025089 HP:0006144 16 Feb 2016 Finding Shortening of the talar neck Human Phenotype Ontology C1843985 HP:0008117 16 Feb 2016 Finding Shortening of the tibia Human Phenotype Ontology C1855277 HP:0006436 16 Feb 2016 Finding Shoulder and girdle defects-familial intellectual disability syndrome MONDO MONDO:0016821 17 Apr 2020 Disease Shoulder and thorax deformity congenital heart disease 16 Feb 2016 Disease Shoulder and thorax deformity-congenital heart disease syndrome MONDO CN200681 MONDO:0016024 17 Apr 2020 Disease Shoulder dimples Human Phenotype Ontology C4023704 HP:0010782 16 Feb 2016 Finding Shoulder dislocation Human Phenotype Ontology C0037005 HP:0003834 16 Feb 2016 Finding Shoulder dystocia Human Phenotype Ontology C0269825 HP:0011413 16 Feb 2016 Finding Shoulder flexion contracture Human Phenotype Ontology C0409336 HP:0003044 16 Feb 2016 Finding Shoulder girdle defect mental retardation familial 16 Feb 2016 Disease Shoulder girdle muscle atrophy Human Phenotype Ontology C1847766 HP:0003724 16 Feb 2016 Finding Shoulder girdle muscle weakness Human Phenotype Ontology C0427063 HP:0003547 16 Feb 2016 Finding Shoulder impingement Human Phenotype Ontology C1655733 HP:0030881 02 Apr 2017 Finding Shoulder impingement syndrome MONDO C0376685 MONDO:0006968 17 Apr 2020 Disease Shoulder muscle aplasia Human Phenotype Ontology C4477082 HP:0500023 04 Apr 2018 Finding Shoulder muscle hypoplasia Human Phenotype Ontology C1969001 HP:0008952 16 Feb 2016 Finding Shoulder pain Human Phenotype Ontology C0037011 HP:0030834 02 Apr 2017 Finding Shoulder subluxation Human Phenotype Ontology C0434744 HP:0003835 16 Feb 2016 Finding Shovel-shaped maxillary central incisors Human Phenotype Ontology C1833168 HP:0006358 16 Feb 2016 Finding Shprintzen omphalocele syndrome NCBI curation C1866958 182210 16 Feb 2016 Disease Shprintzen syndrome NCBI curation C0220704 192430 16 Feb 2016 Disease Shprintzen-Goldberg syndrome NCBI curation C1321551 182212 16 Feb 2016 Disease Shrimp allergy MONDO MONDO:0025517 17 Apr 2020 Disease Shuffling gait Human Phenotype Ontology C0231688 HP:0002362 16 Feb 2016 Finding SHUKLA-VERNON SYNDROME OMIM C5193146 301029 301029 27 Jul 2019 Disease Shwachman syndrome C0272170 06 Feb 2020 Disease Shwachman-Diamond syndrome 1 NCBI curation C4692625 260400 06 Feb 2020 Disease SHWACHMAN-DIAMOND SYNDROME 2 OMIM C4693704 617941 617941 21 Apr 2018 Disease Shwachman-Diamond-like syndrome 27 Apr 2018 Finding Shwartzman phenomenon C0037018 16 Feb 2016 Disease Shyness Human Phenotype Ontology C0037020 HP:0100962 16 Feb 2016 Finding Sialadenitis Human Phenotype Ontology C0037023 HP:0031281 04 Apr 2018 Finding Sialic acid storage disease, severe infantile type C1096902 269920 16 Feb 2016 Disease Sialidosis Orphanet C0268226 ORPHA309294 25 Aug 2017 Disease Sialidosis type 2 MONDO C4282398 MONDO:0009738 256550 22 Apr 2020 Disease Sialidosis type I NCBI curation C0023806 16 Feb 2016 Disease Sialoadenitis 16 Feb 2016 Disease Sialodocholithiasis NCBI curation C0036089 181010 16 Feb 2016 Disease Sialolithiasis MONDO C0036091 MONDO:0006970 17 Apr 2020 Disease Sialuria GeneReviews C0342853 NBK1164 269921 16 Feb 2016 Disease Sib(a) NCBI curation CN240902 20 Jun 2017 Disease Siberian tick typhus MONDO C0549160 MONDO:0001154 04 Jun 2020 Infectious disease Sibling of child suspected with Methylmalonic aciduria 14 Jul 2017 Finding Sibling with Prader-Willi syndrome CN235175 16 Feb 2016 Finding Sick building syndrome MONDO C0037050 MONDO:0005959 17 Apr 2020 Disease Sick sinus syndrome OMIM phenotypic series C0037052 PS608567 16 Feb 2016 Disease Sick sinus syndrome Human Phenotype Ontology C0037052 HP:0011704 16 Feb 2016 Disease Sick sinus syndrome 1, autosomal recessive NCBI curation C1837845 608567 16 Feb 2016 Disease SICK SINUS SYNDROME 2 WITH CARDIAC NONCOMPACTION AND ASCENDING AORTA DILATION C4310906 11 Oct 2017 Disease Sick sinus syndrome 2, autosomal dominant NCBI curation C1834144 163800 16 Feb 2016 Disease Sick sinus syndrome 3, susceptibility to NCBI curation C3279791 614090 16 Feb 2016 Disease Sickle cell disease and related diseases MONDO CN202572 MONDO:0017146 17 Apr 2020 Disease Sickle cell disease associated with an other hemoglobin anomaly MONDO CN201907 MONDO:0016667 17 Apr 2020 Disease sickle cell trait C0037054 18 Jan 2019 Finding Sickle cell-beta-thalassemia NCBI curation C0221019 16 Feb 2016 Disease Sickle cell-beta-thalassemia disease syndrome MONDO CN201908 MONDO:0016668 17 Apr 2020 Disease Sickle cell-hemoglobin C disease NCBI curation C0019034 16 Feb 2016 Disease Sickle cell-hemoglobin D disease NCBI curation C0272084 16 Feb 2016 Disease Sickle cell-hemoglobin E disease syndrome MONDO CN201911 MONDO:0016671 17 Apr 2020 Disease Sickle cell-Hemoglobin O Arab disease NCBI curation C1264000 16 Feb 2016 Disease Sickled erythrocytes Human Phenotype Ontology C2237347 HP:0030058 16 Feb 2016 Finding SIDDIQI SYNDROME OMIM C5231435 618635 618635 26 Oct 2019 Disease Sideroblastic anemia Human Phenotype Ontology C0002896 HP:0001924 16 Feb 2016 Finding Sideroblastic anemia 3, pyridoxine-refractory NCBI curation C4225155 616860 17 Apr 2016 Disease Sideroblastic anemia acquired 16 Feb 2016 Disease Sideroblastic Anemia and Ataxia CN239162 02 Dec 2016 Disease Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay NCBI curation C4015172 616084 16 Feb 2016 Disease Sideroblastic anemia, acquired idiopathic NCBI curation C4016601 16 Feb 2016 Disease Siderosis 16 Feb 2016 Disease SIDS-associated pathogenic variant CN219011 16 Feb 2016 Finding Siegler-Brewer-Carey syndrome MONDO C2931473 MONDO:0017849 22 Apr 2020 Disease Sifrim-Hitz-Weiss syndrome NCBI curation C4310688 617159 20 Jun 2017 Disease Sigmoid disease MONDO C0037072 MONDO:0002139 17 Apr 2020 Disease Sigmoid neoplasm MONDO C0037073 MONDO:0006971 17 Apr 2020 Disease Signet ring basal cell carcinoma MONDO C1519320 MONDO:0002958 17 Apr 2020 Disease Signet ring cell breast carcinoma MONDO C1335964 MONDO:0002671 17 Apr 2020 Disease Signet ring cell carcinoma C0206696 16 Feb 2016 Disease Signet ring cell gastric adenocarcinoma MONDO C1335965 MONDO:0006409 17 Apr 2020 Disease Signet ring cell intrahepatic cholangiocarcinoma MONDO C1519321 MONDO:0004346 17 Apr 2020 Disease Signet ring cell variant cervical mucinous adenocarcinoma MONDO C1516424 MONDO:0003768 17 Apr 2020 Disease significant limitation of joint motion 13 Feb 2020 Finding Signs and Symptoms, Digestive NCBI curation C0037089 16 Feb 2016 Finding Signs and Symptoms, Digestive: absent NCBI curation CN184657 16 Feb 2016 Finding signs involving musculoskeletal system 05 Sep 2019 Finding signs involving nervous system 05 Sep 2019 Finding sildenafil response - Efficacy PharmGKB CN236581 655385125 18 May 2016 Pharmacological response Silengo Lerone Pelizza syndrome 16 Feb 2016 Disease Silent myocardial infarction MONDO C0340324 MONDO:0003678 17 Apr 2020 Disease Silent sinus syndrome MONDO C3698095 MONDO:0019108 17 Apr 2020 Disease Silicosiderosis C0018929 16 Feb 2016 Disease Silicosis 16 Feb 2016 Disease Silicotuberculosis MONDO C0037118 MONDO:0021804 04 Jun 2020 Infectious disease Sillence syndrome C1862092 113450 16 Feb 2016 Disease Silo filler disease MONDO C0037120 MONDO:0006972 17 Apr 2020 Disease Silver Russell Syndrome-related disorder 21 Dec 2018 Disease Silver-gray hair Human Phenotype Ontology C1836576 HP:0002218 16 Feb 2016 Finding SILVER-RUSSELL SYNDROME 2 OMIM CN282528 618905 618905 14 Jun 2020 Disease SILVER-RUSSELL SYNDROME 4 OMIM CN282529 618907 618907 14 Jun 2020 Disease Silver-Russell syndrome 5 NCBI curation CN282530 618908 17 Jun 2020 Disease Silver-Russell syndrome due to 11p15 microduplication MONDO CN201476 MONDO:0016481 17 Apr 2020 Disease Silver-Russell syndrome due to 7p11.2p13 microduplication MONDO CN201474 MONDO:0016479 17 Apr 2020 Disease Silver-Russell syndrome due to a point mutation MONDO CN225933 MONDO:0018336 17 Apr 2020 Disease Silver-Russell syndrome due to an imprinting defect of 11p15 Orphanet CN201475 ORPHA231140 09 Feb 2020 Disease Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 MONDO CN201477 MONDO:0016482 17 Apr 2020 Disease Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 MONDO CN206841 MONDO:0019913 17 Apr 2020 Disease Silvery hair syndrome 16 Feb 2016 Disease Simeprevir response NCBI curation CN236396 30 Apr 2016 Pharmacological response Simian acquired immunodeficiency syndrome MONDO C0080151 MONDO:0025484 17 Apr 2020 Disease Simian B virus infection 16 Feb 2016 Disease Simian immunodeficiency virus infection MONDO C3687173 MONDO:0005163 04 Jun 2020 Infectious disease Simple chronic conjunctivitis MONDO C0155146 MONDO:0004811 17 Apr 2020 Disease Simple cryoglobulinemia MONDO C4510006 MONDO:0019606 17 Apr 2020 Disease Simple endometrial hyperplasia MONDO C0456483 MONDO:0006410 17 Apr 2020 Disease Simple febrile convulsions 05 Sep 2019 Finding Simple febrile seizures Human Phenotype Ontology C0149886 HP:0011171 16 Feb 2016 Finding Simple partial epilepsy MONDO MONDO:0003290 17 Apr 2020 Disease Simple partial occipital seizures Human Phenotype Ontology C4317153 HP:0025121 02 Apr 2017 Finding Simple vascular malformation MONDO CN200995 MONDO:0016230 17 Apr 2020 Disease Simpson-Golabi-Behmel syndrome C0796154 312870 16 Feb 2016 Disease Simpson-Golabi-Behmel syndrome, type 2 NCBI curation C1846175 300209 16 Feb 2016 Disease Simultanagnosia MONDO C2827429 MONDO:0000678 17 Apr 2020 Disease Simultanapraxia Human Phenotype Ontology C4073149 HP:0040201 02 Apr 2017 Finding simvastatin acid response - Metabolism/PK PharmGKB 1449556772PA166129446 06 Jul 2018 Pharmacological response Simvastatin response NCBI curation CN128903 16 Feb 2016 Pharmacological response simvastatin response - Efficacy PharmGKB CN236582 655384611 18 May 2016 Pharmacological response simvastatin response - Toxicity/ADR PharmGKB CN236621 655384011 18 May 2016 Pharmacological response SIN3A-related intellectual disability syndrome MONDO CN258628 MONDO:0044699 17 Apr 2020 Disease Sinding-Larsen-Johansson disease MONDO C1504517 MONDO:0019970 17 Apr 2020 Disease Singh Chhaparwal Dhanda syndrome 16 Feb 2016 Disease Single coronary artery origin Human Phenotype Ontology C4023251 HP:0011640 16 Feb 2016 Finding Single fiber EMG abnormality Human Phenotype Ontology C4022679 HP:0030006 16 Feb 2016 Finding Single interphalangeal crease of fifth finger Human Phenotype Ontology C1850336 HP:0006216 16 Feb 2016 Finding single left transverse palmar crease 22 Aug 2019 Finding Single lineage myelodysplasia Human Phenotype Ontology C4023019 HP:0012150 16 Feb 2016 Finding Single naris Human Phenotype Ontology C0685682 HP:0009932 16 Feb 2016 Finding Single raphe bicuspid aortic valve Human Phenotype Ontology C4476978 HP:0031118 04 Apr 2018 Finding Single seizure C0751110 18 Jan 2019 Finding Single transverse palmar crease Human Phenotype Ontology C0424731 HP:0000954 16 Feb 2016 Finding Single trichilemmoma Human Phenotype Ontology C4022710 HP:0012845 16 Feb 2016 Finding Single umbilical artery Human Phenotype Ontology C1384670 HP:0001195 16 Feb 2016 Finding Single ventricle Human Phenotype Ontology C0152424 HP:0001750 16 Feb 2016 Finding Single Ventricle Defect C3274516 16 Feb 2016 Disease Single ventricle of indeterminate morphology Human Phenotype Ontology C4023233 HP:0011680 16 Feb 2016 Finding Single-organ polyarteritis nodosa MONDO CN242112 MONDO:0018595 17 Apr 2020 Disease Singleton-Merten syndrome OMIM phenotypic series C0432254 PS182250 02 May 2016 Disease Singleton-Merten syndrome 1 NCBI curation C4225427 182250 02 May 2016 Disease Singleton-Merten syndrome 2 NCBI curation C4225380 616298 16 Feb 2016 Disease Sino-auricular heart block MONDO MONDO:0015257 17 Apr 2020 Disease Sinoatrial block Human Phenotype Ontology C0037188 HP:0012723 16 Feb 2016 Finding Sinoatrial node disease MONDO MONDO:0000469 17 Apr 2020 Disease Sinoatrial node dysfunction and deafness NCBI curation C3554018 614896 16 Feb 2016 Disease Sinonasal undifferentiated carcinoma C1710096 16 Feb 2016 Disease Sinus bradycardia Human Phenotype Ontology C0085610 HP:0001688 16 Feb 2016 Finding Sinus cancer 16 Feb 2016 Disease Sinus node disease NCBI curation C0428908 11 Nov 2018 Disease Sinus node disease and myopia C1866960 182190 16 Feb 2016 Disease Sinus tachycardia Human Phenotype Ontology C0039239 HP:0011703 16 Feb 2016 Finding Sinus venosus atrial septal defect Human Phenotype Ontology C0344730 HP:0011567 16 Feb 2016 Finding Sinusitis Human Phenotype Ontology C0037199 HP:0000246 16 Feb 2016 Finding Siponimod Response CN282574 17 Jun 2020 Pharmacological response Sirenomelia Human Phenotype Ontology C0037205 HP:0010497 16 Feb 2016 Disease Sirolimus response NCBI curation CN533580 16 Oct 2017 Pharmacological response sirolimus response - Dosage PharmGKB CN236544 981203936 18 May 2016 Pharmacological response sirolimus response - Metabolism/PK PharmGKB 1449140235PA451365 06 Jul 2018 Pharmacological response Sister chromatid exchange, frequency of NCBI curation C1866942 182220 16 Feb 2016 Disease Sitosterolemia OMIM phenotypic series C0342907 PS210250 16 Feb 2016 Disease Sitosterolemia 1 NCBI curation C5231390 210250 22 Jan 2020 Disease SITOSTEROLEMIA 2 OMIM C5231453 618666 618666 21 Nov 2019 Disease Situs ambiguus MONDO C4551493 MONDO:0015522 17 Apr 2020 Disease Situs inversus NCBI curation C0037221 10 Apr 2018 Disease Situs inversus totalis with cystic dysplasia of kidneys and pancreas C1863647 603643 16 Feb 2016 Disease Situs inversus with levocardia Human Phenotype Ontology C0023569 HP:0031592 04 Apr 2018 Finding situs inversus, sperm immotility, sperm axonemal complex defects, axonemal disorganization including absence of dynein arms and nexin bridges CN220291 16 Feb 2016 Finding Six lumbar vertebrae Human Phenotype Ontology C1839279 HP:0008416 16 Feb 2016 Finding Six2-related frontonasal dysplasia MONDO CN258464 MONDO:0044628 17 Apr 2020 Disease Sixth nerve palsy 16 Feb 2016 Disease Sjogren's syndrome, juvenile, secondary to autoimmune disease 16 Feb 2016 Disease Sjogren-Larsson-like ichthyosis without CNS or eye involvement MONDO C1849195 MONDO:0010032 270220 17 Apr 2020 Disease Sjogren-Mikulicz syndrome 16 Feb 2016 Disease Sjögren's syndrome C1527336 270150 16 Feb 2016 Disease Sjögren-Larsson syndrome NCBI curation C0037231 270200 16 Feb 2016 Disease skeletal abnormalities, including chondrodysplasia punctata and mild rhizomelic shortening of humeri CN230443 16 Feb 2016 Finding skeletal abnormalities, including mild rhizomelic shortening of humeri CN230444 16 Feb 2016 Finding Skeletal defects, genital hypoplasia, and mental retardation NCBI curation C2676231 612447 16 Feb 2016 Disease Skeletal dysplasia Human Phenotype Ontology C0410528 HP:0002652 16 Feb 2016 Disease Skeletal dysplasia and progressive central nervous system degeneration, lethal NCBI curation C1865117 602613 16 Feb 2016 Disease Skeletal dysplasia orofacial anomalies 16 Feb 2016 Disease Skeletal dysplasia with acanthosis nigricans NCBI curation C1851152 16 Feb 2016 Disease Skeletal dysplasia with delayed epiphyseal and carpal bone ossification NCBI curation C1866939 182255 16 Feb 2016 Disease SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE OMIM CN280879 618870 618870 03 May 2020 Disease Skeletal dysplasia, rhizomelic, with retinitis pigmentosa NCBI curation C1836898 609047 16 Feb 2016 Disease Skeletal dysplasia, San Diego type C2931282 16 Feb 2016 Disease Skeletal dysplasia-epilepsy-short stature syndrome MONDO C0796046 MONDO:0011011 601187 17 Apr 2020 Disease Skeletal dysplasia-intellectual disability syndrome MONDO C1839729 MONDO:0010668 309620 17 Apr 2020 Disease Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome MONDO CN258702 MONDO:0033682 17 Apr 2020 Disease Skeletal fluorosis MONDO MONDO:0400003 17 Apr 2020 Disease Skeletal ligament disease MONDO MONDO:0045004 17 Apr 2020 Disease Skeletal muscle atrophy Human Phenotype Ontology C0541794 HP:0003202 16 Feb 2016 Disease Skeletal muscle cancer MONDO C1334619 MONDO:0002847 17 Apr 2020 Disease Skeletal muscle disease Orphanet CN924919 ORPHA98472 08 Apr 2018 Disease Skeletal muscle fibrosis Human Phenotype Ontology C3670683 HP:0030951 02 Apr 2017 Finding Skeletal muscle hypertrophy Human Phenotype Ontology C2265792 HP:0003712 16 Feb 2016 Finding Skeletal muscle neoplasm MONDO C1335971 MONDO:0002848 17 Apr 2020 Disease Skeletal muscle steatosis Human Phenotype Ontology C4477033 HP:0040291 04 Apr 2018 Finding Skeletal myopathy Human Phenotype Ontology C1533847 HP:0003756 16 Feb 2016 Finding Skeletal myopathy, responsive to riboflavin NCBI curation C4016617 16 Feb 2016 Disease Skeletal system disease MONDO C0263661 MONDO:0005172 17 Apr 2020 Disease Skeletal tuberculosis MONDO C0041324 MONDO:0005962 04 Jun 2020 Infectious disease Skeleto cardiac syndrome with thrombocytopenia 16 Feb 2016 Disease Skewed maternal X inactivation Human Phenotype Ontology C4022856 HP:0012546 16 Feb 2016 Finding Ski jump nail Human Phenotype Ontology C4280751 HP:0030819 02 Apr 2017 Finding Skin adenoid basal cell carcinoma MONDO C1304296 MONDO:0002951 17 Apr 2020 Disease Skin adenoma 14 Nov 2019 Disease Skin adenosquamous carcinoma MONDO C1710103 MONDO:0056818 17 Apr 2020 Disease Skin and Hair Hypopigmentation 20 Sep 2019 Disease Skin angiosarcoma MONDO C0346081 MONDO:0003029 17 Apr 2020 Disease Skin appendage carcinoma MONDO C0206697 MONDO:0006973 17 Apr 2020 Disease Skin appendage disease MONDO C0037272 MONDO:0024481 17 Apr 2020 Disease Skin appendage neoplasm Human Phenotype Ontology C0345988 HP:0012842 02 Apr 2017 Finding Skin basal cell carcinoma MONDO MONDO:0005341 17 Apr 2020 Disease Skin basaloid carcinoma MONDO C1335973 MONDO:0004091 17 Apr 2020 Disease Skin cancer, non melanoma, childhood 16 Feb 2016 Disease Skin carcinoma MONDO C0699893 MONDO:0002656 17 Apr 2020 Disease Skin carcinoma in situ MONDO C0154073 MONDO:0004641 17 Apr 2020 Disease skin changes 05 Sep 2019 Finding Skin clear cell basal cell carcinoma MONDO C1516599 MONDO:0002950 17 Apr 2020 Disease Skin creases, congenital symmetric circumferential, 2 NCBI curation C4225225 616734 16 Feb 2016 Disease Skin cystic basal cell carcinoma MONDO C1275193 MONDO:0002956 17 Apr 2020 Disease Skin dimple over apex of long bone angulation Human Phenotype Ontology C1855815 HP:0001024 16 Feb 2016 Finding Skin dimples Human Phenotype Ontology C0578531 HP:0010781 16 Feb 2016 Finding Skin disease MONDO MONDO:0005093 17 Apr 2020 Disease Skin disease caused by bacterial infection MONDO CN281878 MONDO:0024295 04 Jun 2020 Infectious disease Skin disease caused by infection MONDO CN281877 MONDO:0024294 04 Jun 2020 Infectious disease Skin epithelioid hemangioma MONDO C0002989 MONDO:0001939 17 Apr 2020 Disease Skin erosion Human Phenotype Ontology C3887524 HP:0200041 16 Feb 2016 Finding Skin exzema CN235240 19 Feb 2016 Finding Skin fibroepithelial basal cell carcinoma MONDO C0346013 MONDO:0002948 17 Apr 2020 Disease Skin fissure Human Phenotype Ontology C0221245 HP:0031057 04 Apr 2018 Finding Skin fragility with non-scarring blistering Human Phenotype Ontology C1851562 HP:0007585 16 Feb 2016 Finding Skin fragility-woolly hair-palmoplantar keratoderma syndrome MONDO C1843292 MONDO:0011882 607655 17 Apr 2020 Disease Skin glomus tumor MONDO C0346083 MONDO:0002295 17 Apr 2020 Disease Skin hemangioma MONDO C0687140 MONDO:0003110 17 Apr 2020 Disease Skin infiltrative basal cell carcinoma MONDO C0334257 MONDO:0002953 17 Apr 2020 Disease Skin lesions C0037284 01 Jun 2017 Finding Skin lipoma MONDO MONDO:0000964 17 Apr 2020 Disease Skin lymphangioma MONDO C1333176 MONDO:0024673 17 Apr 2020 Disease Skin lymphangiosarcoma MONDO C0346082 MONDO:0021010 17 Apr 2020 Disease Skin Manifestations NCBI curation C0037285 16 Feb 2016 Finding Skin Manifestations: absent NCBI curation CN184658 16 Feb 2016 Finding Skin meningioma MONDO C1335481 MONDO:0004429 17 Apr 2020 Disease Skin nodule Human Phenotype Ontology C0037287 HP:0200036 16 Feb 2016 Finding Skin papilloma MONDO C0347390 MONDO:0002536 17 Apr 2020 Disease Skin papules NCBI curation CN168750 16 Feb 2016 Finding Skin pigmentation disease MONDO CN205928 MONDO:0019288 17 Apr 2020 Disease Skin pigmented basal cell carcinoma MONDO C1368275 MONDO:0002939 17 Apr 2020 Disease Skin pilomatrix carcinoma MONDO C0585475 MONDO:0003414 17 Apr 2020 Disease Skin pit Human Phenotype Ontology C4022172 HP:0100276 16 Feb 2016 Finding Skin plaque Human Phenotype Ontology C0241148 HP:0200035 16 Feb 2016 Finding Skin problems CN235306 20 Feb 2016 Finding Skin rash Human Phenotype Ontology C0015230 HP:0000988 16 Feb 2016 Finding Skin sarcoidosis MONDO C0036203 MONDO:0006611 17 Apr 2020 Disease Skin sarcoma MONDO C0856900 MONDO:0006414 17 Apr 2020 Disease Skin sensitivity to sun MONDO MONDO:0005434 17 Apr 2020 Disease Skin squamous cell carcinoma in situ MONDO C2314897 MONDO:0020760 17 Apr 2020 Disease skin tag of ear 05 Sep 2019 Finding Skin tags Human Phenotype Ontology C0037293 HP:0010609 16 Feb 2016 Finding Skin ulcer Human Phenotype Ontology C0037299 HP:0200042 16 Feb 2016 Finding Skin vesicle Human Phenotype Ontology C3814530 HP:0200037 16 Feb 2016 Finding Skin-colored papule Human Phenotype Ontology C4476819 HP:0025512 04 Apr 2018 Finding Skin-picking Human Phenotype Ontology C1696701 HP:0012166 16 Feb 2016 Finding Skin/hair/eye pigmentation 2, blond hair/fair skin NCBI curation C2675047 16 Feb 2016 Disease Skin/hair/eye pigmentation 2, red hair/fair skin NCBI curation C4016260 16 Feb 2016 Disease Skin/hair/eye pigmentation 3, blue/green eyes NCBI curation C3149136 16 Feb 2016 Disease Skin/hair/eye pigmentation, variation in OMIM phenotypic series CN263217 PS227220 30 Jan 2020 Disease Skin/hair/eye pigmentation, variation in, 1 NCBI curation C1856895 227220 16 Feb 2016 Disease Skin/hair/eye pigmentation, variation in, 10 NCBI curation C2677088 612267 16 Feb 2016 Disease Skin/hair/eye pigmentation, variation in, 11 NCBI curation C2677086 612271 16 Feb 2016 Disease Skin/hair/eye pigmentation, variation in, 2 NCBI curation C1849452 266300 16 Feb 2016 Disease Skin/hair/eye pigmentation, variation in, 3 NCBI curation C2677190 601800 16 Feb 2016 Disease Skin/hair/eye pigmentation, variation in, 4 NCBI curation C3805375 113750 16 Feb 2016 Disease Skin/hair/eye pigmentation, variation in, 5 NCBI curation C2673584 227240 16 Feb 2016 Disease Skin/hair/eye pigmentation, variation in, 6 NCBI curation C2673866 210750 16 Feb 2016 Disease Skin/hair/eye pigmentation, variation in, 7 NCBI curation C2674081 611664 16 Feb 2016 Disease Skin/hair/eye pigmentation, variation in, 8 NCBI curation C2673265 611724 16 Feb 2016 Disease Skin/hair/eye pigmentation, variation in, 9 NCBI curation C2673200 611742 16 Feb 2016 Disease Skint1-like pseudogene NCBI curation C4085348 616392 16 Feb 2016 Disease SKRABAN-DEARDORFF SYNDROME OMIM C4539927 617616 617616 17 Aug 2017 Disease Skull asymmetry Human Phenotype Ontology C0424690 HP:0002678 16 Feb 2016 Finding Skull base chordoma MONDO C1335975 MONDO:0002892 17 Apr 2020 Disease Skull base meningioma MONDO C1335976 MONDO:0002998 17 Apr 2020 Disease Skull base neoplasm MONDO C0376527 MONDO:0002785 17 Apr 2020 Disease Skull cancer MONDO MONDO:0002132 17 Apr 2020 Disease Skull disorder MONDO C1290854 MONDO:0024654 17 Apr 2020 Disease Skull neoplasm MONDO C0037305 MONDO:0024653 17 Apr 2020 Disease Slanting of the palpebral fissure Human Phenotype Ontology C2748932 HP:0200006 16 Feb 2016 Finding Slate pneumoconiosis MONDO C0340186 MONDO:0001004 17 Apr 2020 Disease Slavotinek Pike Mills Hurst syndrome 16 Feb 2016 Disease SLC10A7-CDG MONDO MONDO:0100068 17 Apr 2020 Disease SLC17A5-Related Disorders 23 May 2019 Disease SLC22A4 POLYMORPHISM 16 Feb 2016 Disease SLC25A38-Related Disorders 23 May 2019 Disease SLC25A42-related mitochondrial disorder 21 Dec 2019 Disease SLC25A42-related mitochondrial encephalomyopathy 13 Dec 2018 Finding SLC25A46-associated optic atrophy spectrum disorder 02 Aug 2019 Finding SLC26A2-Related Disorders CN239404 02 Dec 2016 Disease SLC26A4-Related Disorders CN239421 02 Dec 2016 Disease SLC34A1-Related Disorders 23 May 2019 Disease SLC35A2-CDG MONDO C3806688 MONDO:0010478 300896 17 Apr 2020 Disease SLC39A8 deficiency CN234734 16 Feb 2016 Disease SLC39A8-CDG MONDO C4225234 MONDO:0014746 616721 17 Apr 2020 Disease SLC6A1-Related Disorder 29 Aug 2019 Disease SLC6A2-related disorder 13 Oct 2017 Disease SLC9A7-related neurodevelopmental disorder 21 Aug 2018 Disease Sleep apnea Human Phenotype Ontology C0037315 HP:0010535 16 Feb 2016 Finding Sleep apnea syndrome MONDO MONDO:0005296 17 Apr 2020 Disease sleep difficulties CN188714 16 Feb 2016 Finding sleep disorder C0851578 18 Jan 2019 Finding Sleep disorder, initiating and maintaining sleep MONDO MONDO:0024376 17 Apr 2020 Disease Sleep disturbance Human Phenotype Ontology C0037317 HP:0002360 16 Feb 2016 Finding Sleep myoclonus Human Phenotype Ontology C0751352 HP:0012323 16 Feb 2016 Finding Sleep onset Insomnia Human Phenotype Ontology C4531177 HP:0031354 04 Apr 2018 Finding Sleep paralysis Human Phenotype Ontology C0456511 HP:0025233 02 Apr 2017 Finding Sleep terror Human Phenotype Ontology C0037320 HP:0030765 02 Apr 2017 Finding Sleep-wake cycle disturbance Human Phenotype Ontology C1833362 HP:0006979 16 Feb 2016 Finding Sleep-wake disorder MONDO MONDO:0003406 17 Apr 2020 Disease Sleep-wake schedule disorder, delayed phase type NCBI curation C3279991 614163 16 Feb 2016 Disease Sleepy facial expression Human Phenotype Ontology C4025214 HP:0005335 16 Feb 2016 Finding Slender bone dysplasia MONDO CN229209 MONDO:0019699 17 Apr 2020 Disease Slender build Human Phenotype Ontology C1850573 HP:0001533 16 Feb 2016 Finding Slender corpus callosum 23 Jan 2020 Finding Slender distal phalanx of finger Human Phenotype Ontology C4022962 HP:0012296 16 Feb 2016 Finding Slender finger Human Phenotype Ontology C1857482 HP:0001238 16 Feb 2016 Finding Slender forearm bones Human Phenotype Ontology C4025471 HP:0003969 16 Feb 2016 Finding Slender humeral diaphysis Human Phenotype Ontology C4025495 HP:0003934 16 Feb 2016 Finding Slender humerus Human Phenotype Ontology C4021851 HP:0003882 16 Feb 2016 Finding Slender long bone Human Phenotype Ontology C1833144 HP:0003100 16 Feb 2016 Finding Slender long bones with narrow diaphyses Human Phenotype Ontology C2675547 HP:0004993 16 Feb 2016 Finding Slender metacarpals Human Phenotype Ontology C4025077 HP:0006236 16 Feb 2016 Finding Slender middle phalanx of finger Human Phenotype Ontology C4022963 HP:0012295 16 Feb 2016 Finding Slender nose Human Phenotype Ontology C1857645 HP:0000417 16 Feb 2016 Finding Slender proximal phalanx of finger Human Phenotype Ontology C4022961 HP:0012297 16 Feb 2016 Finding Slender radius Human Phenotype Ontology C1968813 HP:0040062 16 Feb 2016 Finding Slender toe Human Phenotype Ontology C4021168 HP:0011308 16 Feb 2016 Finding Slender ulna Human Phenotype Ontology C1968814 HP:0003992 16 Feb 2016 Finding slight cognitive delay 13 Feb 2020 Finding Slight dysmorphic facial features CN219579 16 Feb 2016 Finding slight flexed posture of fingers 13 Feb 2020 Finding Slight hypotonia CN235377 02 Mar 2016 Finding Slight pectus excavatum CN235301 20 Feb 2016 Finding slightly asymmetric lateral cerebral ventricles 22 Aug 2019 Finding Slightly delayed milestones CN240685 24 Feb 2017 Finding Slightly reduced reflexes CN228312 16 Feb 2016 Finding Slipped femoral capital epiphyses MONDO C0149887 MONDO:0008431 182260 22 Apr 2020 Disease Slit-like opening of the exterior auditory meatus Human Phenotype Ontology C1846459 HP:0008588 16 Feb 2016 Finding Sloping forehead Human Phenotype Ontology C1857679 HP:0000340 16 Feb 2016 Finding Sloping humeral metaphysis Human Phenotype Ontology C4025507 HP:0003920 16 Feb 2016 Finding Sloping radial epiphyses Human Phenotype Ontology C4025449 HP:0004008 16 Feb 2016 Finding Sloping radial metaphysis Human Phenotype Ontology C4025437 HP:0004023 16 Feb 2016 Finding Sloping ulnar metaphysis Human Phenotype Ontology C4025419 HP:0004045 16 Feb 2016 Finding Slow acetylator due to N-acetyltransferase enzyme variant NCBI curation C0878587 243400 16 Feb 2016 Pharmacological response Slow decrease in visual acuity Human Phenotype Ontology C1853141 HP:0007924 16 Feb 2016 Finding slow dystonic movements CN232690 16 Feb 2016 Finding slow gut motility 18 Aug 2017 Finding Slow pupillary light response Human Phenotype Ontology C4022576 HP:0030211 16 Feb 2016 Finding Slow saccadic eye movements Human Phenotype Ontology C1321329 HP:0000514 16 Feb 2016 Finding Slow transit constipation C0729262 18 Jan 2019 Finding Slow weight gain C1856937 18 Jan 2019 Finding Slow-growing hair Human Phenotype Ontology C1832348 HP:0002217 16 Feb 2016 Finding Slow-growing nails Human Phenotype Ontology C1835238 HP:0008383 16 Feb 2016 Finding Slow-growing scalp hair Human Phenotype Ontology C4022383 HP:0100038 16 Feb 2016 Finding Slowed horizontal saccades Human Phenotype Ontology C1856477 HP:0007885 16 Feb 2016 Finding Slowed nerve conduction velocity, autosomal dominant NCBI curation C1842357 608236 16 Feb 2016 Disease Slowed slurred speech Human Phenotype Ontology C4024929 HP:0007164 16 Feb 2016 Finding Slowly progressive diplegia 27 Jun 2018 Finding Slowly progressive spastic diplegia, tremor 27 Jun 2018 Finding Slowly progressive spastic quadriparesis Human Phenotype Ontology C4024955 HP:0006983 16 Feb 2016 Finding Slti-Salem syndrome MONDO C2931284 MONDO:0042962 22 Apr 2020 Disease Slurred speech Human Phenotype Ontology C0234518 HP:0001350 16 Feb 2016 Finding SMAD3-Related Disorder 29 Aug 2019 Disease SMALED with vertebral abnormality CN189803 16 Feb 2016 Finding Small abnormally formed scapulae Human Phenotype Ontology C1861226 HP:0006584 16 Feb 2016 Finding small adenohypophysis 22 Aug 2019 Finding Small and mal-aligned teeth, skin and joint laxity, and normal motor and cognitive development CN186928 16 Feb 2016 Finding Small anterior fontanelle Human Phenotype Ontology C1859455 HP:0000237 16 Feb 2016 Finding small anteverted nostrils 22 Aug 2019 Finding small Atrial septal defect CN219571 16 Feb 2016 Finding Small basal ganglia Human Phenotype Ontology C4022769 HP:0012697 16 Feb 2016 Finding small bell-shaped thorax with coat hanger appearance of the ribs CN224013 16 Feb 2016 Finding Small bladder diverticulum CN235505 12 Mar 2016 Finding Small bowel Crohn disease MONDO MONDO:0005539 17 Apr 2020 Disease Small bowel diverticula Human Phenotype Ontology C0267498 HP:0002256 16 Feb 2016 Finding Small cell carcinoma MONDO C0334239 MONDO:0000402 07 Jun 2020 Disease Small cell carcinoma of the ovary, hypercalcemic type NCBI curation C4013716 13 Sep 2018 Finding Small cell lung cancer Orphanet C0149925 ORPHA70573 182280 04 Apr 2018 Disease Small cell lung cancer Human Phenotype Ontology C0149925 HP:0030357 182280 04 Apr 2018 Disease Small cell lung cancer, adult 16 Feb 2016 Disease Small cell osteogenic sarcoma MONDO C0279622 MONDO:0002630 17 Apr 2020 Disease Small cell sarcoma MONDO C0206652 MONDO:0006974 17 Apr 2020 Disease Small cell variant anaplastic large cell lymphoma MONDO C1335983 MONDO:0021879 17 Apr 2020 Disease Small cerebellar cortex Human Phenotype Ontology C4531131 HP:0031423 04 Apr 2018 Finding Small cerebral cortex Human Phenotype Ontology C1837503 HP:0002472 16 Feb 2016 Finding Small cervical vertebral bodies Human Phenotype Ontology C1851130 HP:0004629 16 Feb 2016 Finding small cornea 04 Dec 2019 Finding Small distal femoral epiphysis Human Phenotype Ontology C4022970 HP:0012283 16 Feb 2016 Finding Small earlobe Human Phenotype Ontology C1842680 HP:0000385 16 Feb 2016 Finding Small epiphyses Human Phenotype Ontology C1846803 HP:0010585 16 Feb 2016 Finding Small epiphyses of the 2nd finger Human Phenotype Ontology C4024330 HP:0009496 16 Feb 2016 Finding Small epiphyses of the 2nd toe Human Phenotype Ontology C4022369 HP:0100052 16 Feb 2016 Finding Small epiphyses of the 3rd finger Human Phenotype Ontology C4024376 HP:0009418 16 Feb 2016 Finding Small epiphyses of the 3rd toe Human Phenotype Ontology C4022358 HP:0100063 16 Feb 2016 Finding Small epiphyses of the 4th finger Human Phenotype Ontology C4024389 HP:0009401 16 Feb 2016 Finding Small epiphyses of the 4th toe Human Phenotype Ontology C4022347 HP:0100074 16 Feb 2016 Finding Small epiphyses of the 5th finger Human Phenotype Ontology C4024399 HP:0009390 16 Feb 2016 Finding Small epiphyses of the 5th toe Human Phenotype Ontology C4022336 HP:0100085 16 Feb 2016 Finding Small epiphyses of the distal phalanges of the hand Human Phenotype Ontology C4023946 HP:0010254 16 Feb 2016 Finding Small epiphyses of the hallux Human Phenotype Ontology C4024038 HP:0010121 16 Feb 2016 Finding Small epiphyses of the metacarpals Human Phenotype Ontology C4024543 HP:0009194 16 Feb 2016 Finding Small epiphyses of the middle phalanges of the hand Human Phenotype Ontology C4023936 HP:0010265 16 Feb 2016 Finding Small epiphyses of the phalanges of the hand Human Phenotype Ontology C4021305 HP:0010236 16 Feb 2016 Finding Small epiphyses of the proximal phalanges of the hand Human Phenotype Ontology C4023925 HP:0010276 16 Feb 2016 Finding Small epiphyses of the toes Human Phenotype Ontology C4023989 HP:0010170 16 Feb 2016 Finding Small epiphyses of the upper limbs Human Phenotype Ontology C4025556 HP:0003844 16 Feb 2016 Finding Small epiphysis of the 1st metacarpal Human Phenotype Ontology C4024100 HP:0010023 16 Feb 2016 Finding Small epiphysis of the 1st metatarsal Human Phenotype Ontology C4024002 HP:0010157 16 Feb 2016 Finding Small epiphysis of the distal phalanx of the 2nd finger Human Phenotype Ontology C4024321 HP:0009510 16 Feb 2016 Finding Small epiphysis of the distal phalanx of the 2nd toe Human Phenotype Ontology C4022313 HP:0100108 16 Feb 2016 Finding Small epiphysis of the distal phalanx of the 3rd finger Human Phenotype Ontology C4024424 HP:0009343 16 Feb 2016 Finding Small epiphysis of the distal phalanx of the 3rd toe Human Phenotype Ontology C4022278 HP:0100143 16 Feb 2016 Finding Small epiphysis of the distal phalanx of the 4th finger Human Phenotype Ontology C4024489 HP:0009258 16 Feb 2016 Finding Small epiphysis of the distal phalanx of the 4th toe Human Phenotype Ontology C4022244 HP:0100177 16 Feb 2016 Finding Small epiphysis of the distal phalanx of the 5th finger Human Phenotype Ontology C4024571 HP:0009148 16 Feb 2016 Finding Small epiphysis of the distal phalanx of the 5th toe Human Phenotype Ontology C4022211 HP:0100210 16 Feb 2016 Finding Small epiphysis of the distal phalanx of the hallux Human Phenotype Ontology C4024013 HP:0010146 16 Feb 2016 Finding Small epiphysis of the distal phalanx of the thumb Human Phenotype Ontology C4024236 HP:0009683 16 Feb 2016 Finding Small epiphysis of the middle phalanx of the 2nd finger Human Phenotype Ontology C4024312 HP:0009521 16 Feb 2016 Finding Small epiphysis of the middle phalanx of the 2nd toe Human Phenotype Ontology C4022302 HP:0100119 16 Feb 2016 Finding Small epiphysis of the middle phalanx of the 3rd finger Human Phenotype Ontology C4024437 HP:0009329 16 Feb 2016 Finding Small epiphysis of the middle phalanx of the 3rd toe Human Phenotype Ontology C4022267 HP:0100154 16 Feb 2016 Finding Small epiphysis of the middle phalanx of the 4th finger Human Phenotype Ontology C4024519 HP:0009222 16 Feb 2016 Finding Small epiphysis of the middle phalanx of the 4th toe Human Phenotype Ontology C4022233 HP:0100188 16 Feb 2016 Finding Small epiphysis of the middle phalanx of the 5th finger Human Phenotype Ontology C4024529 HP:0009211 16 Feb 2016 Finding Small epiphysis of the middle phalanx of the 5th toe Human Phenotype Ontology C4022200 HP:0100221 16 Feb 2016 Finding Small epiphysis of the proximal phalanx of the 2nd finger Human Phenotype Ontology C4024304 HP:0009532 16 Feb 2016 Finding Small epiphysis of the proximal phalanx of the 2nd toe Human Phenotype Ontology C4022291 HP:0100130 16 Feb 2016 Finding Small epiphysis of the proximal phalanx of the 3rd finger Human Phenotype Ontology C4024415 HP:0009354 16 Feb 2016 Finding Small epiphysis of the proximal phalanx of the 3rd toe Human Phenotype Ontology C4022256 HP:0100165 16 Feb 2016 Finding Small epiphysis of the proximal phalanx of the 4th finger Human Phenotype Ontology C4024480 HP:0009269 16 Feb 2016 Finding Small epiphysis of the proximal phalanx of the 4th toe Human Phenotype Ontology C4022222 HP:0100199 16 Feb 2016 Finding Small epiphysis of the proximal phalanx of the 5th finger Human Phenotype Ontology C4024565 HP:0009159 16 Feb 2016 Finding Small epiphysis of the proximal phalanx of the 5th toe Human Phenotype Ontology C4022189 HP:0100232 16 Feb 2016 Finding Small epiphysis of the proximal phalanx of the hallux Human Phenotype Ontology C4024024 HP:0010135 16 Feb 2016 Finding Small epiphysis of the proximal phalanx of the thumb Human Phenotype Ontology C4024245 HP:0009672 16 Feb 2016 Finding small eruptions over knuckles and calf 13 Feb 2020 Finding small eyes C1837464 19 Oct 2016 Finding Small face Human Phenotype Ontology C1855538 HP:0000274 16 Feb 2016 Finding Small fiber neuropathy NCBI curation C3276706 16 Feb 2016 Disease Small finger Human Phenotype Ontology C0575827 HP:0030033 16 Feb 2016 Finding Small flat posterior fossa Human Phenotype Ontology C4025141 HP:0005759 16 Feb 2016 Finding Small fontanelle Human Phenotype Ontology C0456133 HP:0005486 16 Feb 2016 Finding Small for gestational age Human Phenotype Ontology C0235991 HP:0001518 16 Feb 2016 Finding Small foramen magnum Human Phenotype Ontology C1861217 HP:0002677 16 Feb 2016 Finding Small forehead Human Phenotype Ontology C1845250 HP:0000350 16 Feb 2016 Finding Small hand Human Phenotype Ontology C0575802 HP:0200055 16 Feb 2016 Finding Small hands and feet CN240683 24 Feb 2017 Finding Small humeral epiphyses Human Phenotype Ontology C4025520 HP:0003900 16 Feb 2016 Finding Small hypothenar eminence Human Phenotype Ontology C1861395 HP:0010487 16 Feb 2016 Finding small iliac bones with downward spike CN238721 19 Oct 2016 Finding Small intestinal bacterial overgrowth MONDO CN281906 MONDO:0400000 04 Jun 2020 Infectious disease Small intestinal bleeding Human Phenotype Ontology C0520561 HP:0012849 16 Feb 2016 Finding Small intestinal Burkitt lymphoma MONDO C1335991 MONDO:0006416 17 Apr 2020 Disease Small intestinal diffuse large B-cell lymphoma MONDO C3272522 MONDO:0006417 17 Apr 2020 Disease Small intestinal dysmotility Human Phenotype Ontology C0345200 HP:0012850 16 Feb 2016 Finding Small intestinal enteropathy-associated T-cell lymphoma MONDO C1519371 MONDO:0006418 17 Apr 2020 Disease Small intestinal fibrosarcoma MONDO C1335994 MONDO:0004028 17 Apr 2020 Disease Small intestinal intraepithelial neoplasia MONDO C1335999 MONDO:0006419 17 Apr 2020 Disease Small intestinal L-cell glucagon-like peptide producing tumor MONDO C3274143 MONDO:0004252 17 Apr 2020 Disease Small intestinal mucosa-associated lymphoid tissue lymphoma MONDO C1336004 MONDO:0006420 17 Apr 2020 Disease Small intestinal neuroendocrine tumor G1 MONDO C0349536 MONDO:0000540 17 Apr 2020 Disease Small intestinal perforation Human Phenotype Ontology C0151739 HP:0031370 04 Apr 2018 Finding Small intestinal polyp Human Phenotype Ontology C1302645 HP:0012737 16 Feb 2016 Finding Small intestinal polyposis Human Phenotype Ontology C4022555 HP:0030256 16 Feb 2016 Finding Small intestinal sarcoma MONDO C1336007 MONDO:0003361 17 Apr 2020 Disease Small intestinal stenosis Human Phenotype Ontology C0151924 HP:0012848 16 Feb 2016 Finding Small intestinal tubular adenoma MONDO C1710112 MONDO:0006421 17 Apr 2020 Disease Small intestinal tubulovillous adenoma MONDO C1710113 MONDO:0006422 17 Apr 2020 Disease Small intestinal vasoactive intestinal peptide producing tumor MONDO C1336009 MONDO:0003621 17 Apr 2020 Disease Small intestine cancer CN235596 24 Jul 2019 Disease Small intestine cancer, childhood 16 Feb 2016 Disease Small intestine carcinoid Human Phenotype Ontology C1868072 HP:0006722 16 Feb 2016 Finding Small intestine carcinoma MONDO MONDO:0005522 17 Apr 2020 Disease Small intestine disease MONDO C0341268 MONDO:0024635 17 Apr 2020 Disease Small intestine diverticulitis MONDO MONDO:0001229 17 Apr 2020 Disease Small intestine leiomyoma MONDO C0238197 MONDO:0002092 17 Apr 2020 Disease Small intestine leiomyosarcoma MONDO C0920305 MONDO:0003360 17 Apr 2020 Disease Small intestine lymphoma MONDO C0278805 MONDO:0001852 17 Apr 2020 Disease Small intestine neuroendocrine tumor, well differentiated, low or intermediate grade MONDO C3272528 MONDO:0002995 17 Apr 2020 Disease Small nail Human Phenotype Ontology C0263523 HP:0001792 16 Feb 2016 Finding small nasal wings 22 Aug 2019 Finding Small non-cleaved cell lymphoma 16 Feb 2016 Disease small nose and mouth 22 Aug 2019 Finding Small nose with anteverted nares 23 Jan 2020 Finding Small pale optic nerve CN235252 19 Feb 2016 Finding Small pituitary gland Human Phenotype Ontology C4022873 HP:0012506 16 Feb 2016 Finding Small placenta Human Phenotype Ontology C0566694 HP:0006266 16 Feb 2016 Finding small pointed nose 30 Jan 2019 Finding Small posterior fossa Human Phenotype Ontology C4022496 HP:0040010 16 Feb 2016 Finding Small proximal tibial epiphyses Human Phenotype Ontology C4022969 HP:0012284 16 Feb 2016 Finding Small ptosis 01 Aug 2019 Finding Small radial epiphyses Human Phenotype Ontology C4025447 HP:0004010 16 Feb 2016 Finding small receded chin CN238726 19 Oct 2016 Finding SMALL ROUND CELL TUMOR 20 Sep 2017 Disease Small scaphoid Human Phenotype Ontology C4025394 HP:0004247 16 Feb 2016 Finding Small scrotum Human Phenotype Ontology C0455792 HP:0030276 16 Feb 2016 Finding Small sella turcica Human Phenotype Ontology C4023794 HP:0010538 16 Feb 2016 Finding Small size posterior uveal melanoma MONDO C0278867 MONDO:0024863 17 Apr 2020 Disease Small superior frontal cortex Human Phenotype Ontology C4531133 HP:0031421 04 Apr 2018 Finding Small thenar eminence Human Phenotype Ontology C1846474 HP:0001245 16 Feb 2016 Finding Small thumb epiphysis Human Phenotype Ontology C4021402 HP:0009694 16 Feb 2016 Finding Small toe Human Phenotype Ontology C4022667 HP:0030031 16 Feb 2016 Finding Small trapezium Human Phenotype Ontology C4025389 HP:0004255 16 Feb 2016 Finding Small trapezoid bone Human Phenotype Ontology C4025387 HP:0004258 16 Feb 2016 Finding Small vessel cerebrovascular disease C2733158 24 Feb 2020 Disease Small vessel vasculitis Human Phenotype Ontology C4023113 HP:0011944 16 Feb 2016 Finding Small yellow foveal lesion with surrounding grey zone Human Phenotype Ontology C4531134 HP:0031420 04 Apr 2018 Finding Small, conical teeth Human Phenotype Ontology C1851883 HP:0200141 16 Feb 2016 Finding Smallpox C0037354 16 Feb 2016 Infectious disease SMARCA4-deficient sarcoma of thorax MONDO CN242100 MONDO:0018761 17 Apr 2020 Disease SMARCC2-related condition 27 Apr 2018 Finding Smell ketone compounds, ability to NCBI curation C1866938 182270 16 Feb 2016 Disease Smith Martin Dodd syndrome 16 Feb 2016 Disease Smith-Fineman-Myers syndrome MONDO C0796159 MONDO:0019778 22 Apr 2020 Disease Smith-Kingsmore syndrome NCBI curation C4225259 616638 16 Feb 2016 Disease Smith-Lemli-Opitz syndrome NCBI curation C0175694 270400 08 Apr 2016 Disease Smith-Lemli-Opitz syndrome type 2 C0282644 16 Feb 2016 Disease Smith-Magenis syndrome C0795864 182290 16 Feb 2016 Disease Smith-Magenis Syndrome-like CN238491 15 Sep 2016 Disease Smith-McCort dysplasia OMIM phenotypic series C1846431 PS607326 23 Oct 2016 Disease Smith-McCort dysplasia 1 NCBI curation C3888088 607326 23 Oct 2016 Disease Smith-McCort dysplasia 2 NCBI curation C3714896 615222 23 Oct 2016 Disease Smoking as a quantitative trait locus 1 NCBI curation C1970249 611003 16 Feb 2016 Disease Smoking as a quantitative trait locus 2 NCBI curation C1970248 611004 16 Feb 2016 Disease Smoking as a quantitative trait locus 3 NCBI curation C3150168 612052 16 Feb 2016 Disease Smoldering plasma cell myeloma MONDO C1531608 MONDO:0005235 17 Apr 2020 Disease smooth filtrum 22 Aug 2019 Finding Smooth muscle antibody positivity Human Phenotype Ontology C0241185 HP:0003262 16 Feb 2016 Finding Smooth muscle cancer MONDO C1334620 MONDO:0002924 17 Apr 2020 Disease Smooth muscle tumor MONDO C0206658 MONDO:0006975 17 Apr 2020 Disease Smooth philtrum Human Phenotype Ontology C1142533 HP:0000319 04 Apr 2018 Finding Smooth septal thickening on pulmonary HRCT Human Phenotype Ontology C4476633 HP:0025172 04 Apr 2018 Finding Smooth surface dental caries MONDO MONDO:0005592 17 Apr 2020 Disease Smooth tongue Human Phenotype Ontology C0155964 HP:0010298 16 Feb 2016 Finding Smouldering systemic mastocytosis MONDO C3897042 MONDO:0015557 17 Apr 2020 Disease SMS-Related Disorder 13 Oct 2017 Disease SN-38 response - Other PharmGKB CN236455 982047955 18 May 2016 Pharmacological response Snail allergy MONDO MONDO:0000805 17 Apr 2020 Disease Snail-like ilia Human Phenotype Ontology C1849290 HP:0031026 04 Apr 2018 Finding Snakebite envenomation MONDO CN237735 MONDO:0018669 17 Apr 2020 Disease SNAPC4-associated inflammatory disease 27 Apr 2018 Finding Snapping thumb syndrome C0410060 190410 16 Feb 2016 Disease Sneeze Human Phenotype Ontology C0037383 HP:0025095 02 Apr 2017 Finding SNIJDERS BLOK-CAMPEAU SYNDROME OMIM C4748701 618205 618205 02 Dec 2018 Disease SNIJDERS BLOK-FISHER SYNDROME OMIM C5231424 618604 618604 04 Oct 2019 Disease Snoring Human Phenotype Ontology C0037384 HP:0025267 02 Apr 2017 Finding Snout reflex Human Phenotype Ontology C0241186 HP:0030905 02 Apr 2017 Finding Snowflake vitreoretinal degeneration Human Phenotype Ontology C1860405 HP:0011533 193230 16 Feb 2016 Disease Social and occupational deterioration Human Phenotype Ontology C1866986 HP:0007086 16 Feb 2016 Finding social anxiety disorder 05 Sep 2019 Finding Social communication disorder CN244033 01 Jun 2017 Finding social difficulties 18 Jan 2019 Finding Social emotional agnosia MONDO MONDO:0000679 17 Apr 2020 Disease social functioning disorder 05 Sep 2019 Finding social phobia C0031572 05 Sep 2019 Finding social withdrawal C0424095 18 Jan 2019 Finding Socially inappropriate behavior Human Phenotype Ontology C2220010 HP:0030220 16 Feb 2016 Finding Sodium Benzoate response CN078011 16 Feb 2016 Pharmacological response Sodium channelopathy-related small fiber neuropathy Orphanet C5190631 ORPHA306577 01 Feb 2018 Finding Sodium Phenylacetate response CN078010 16 Feb 2016 Pharmacological response Sodium Phenylbutyrate response CN078012 16 Feb 2016 Pharmacological response Sodium serum level quantitative trait locus 1 NCBI curation C3150755 613508 16 Feb 2016 Disease SODIUM-POTASSIUM-ATPase ACTIVITY OF RED CELL OMIM C1849169 270425 270425 16 Feb 2016 Disease soenturned mouth CN234778 16 Feb 2016 Finding Sofosbuvir response NCBI curation CN238522 30 Sep 2016 Pharmacological response Soft palate cancer MONDO C0153376 MONDO:0004611 17 Apr 2020 Disease Soft skin Human Phenotype Ontology C1844592 HP:0000977 16 Feb 2016 Finding Soft tissue amyloid neoplasm MONDO C1706802 MONDO:0024892 17 Apr 2020 Disease Soft tissue chondroma MONDO C1275277 MONDO:0006423 17 Apr 2020 Disease Soft tissue mass C0457193 01 Jun 2017 Finding Soft tissue neoplasm Human Phenotype Ontology C0037579 HP:0031459 04 Apr 2018 Finding Soft tissue sarcoma Human Phenotype Ontology C4551687 HP:0030448 16 Feb 2016 Disease Soft tissue sarcoma childhood 16 Feb 2016 Disease Soft tissue swelling of interphalangeal joints Human Phenotype Ontology C1854913 HP:0006162 16 Feb 2016 Finding Soft, doughy skin Human Phenotype Ontology C1849043 HP:0001027 16 Feb 2016 Finding Soft-tissue ossification around the shoulders Human Phenotype Ontology C4025561 HP:0003837 16 Feb 2016 Finding Sohval Soffer syndrome 16 Feb 2016 Disease Soiling 23 Jan 2020 Finding Solar urticaria MONDO C0263610 MONDO:0019945 17 Apr 2020 Disease Solid papillary breast carcinoma MONDO C1336027 MONDO:0044783 17 Apr 2020 Disease Solid pseudopapillary carcinoma of pancreas MONDO C1336029 MONDO:0018525 17 Apr 2020 Disease Solid pseudopapillary neoplasm of the pancreas MONDO C1336030 MONDO:0044786 17 Apr 2020 Disease Solid tumor NCBI curation C0280100 16 Feb 2016 Disease Solid tumor associated with an acquired peripheral neuropathy MONDO CN200931 MONDO:0016181 17 Apr 2020 Disease Solid tumors CN882912 22 Mar 2018 Disease Solitary bladder diverticulum Human Phenotype Ontology C4024639 HP:0008691 16 Feb 2016 Finding Solitary congenital hypertrophy of retinal pigment epithelium Human Phenotype Ontology C4021145 HP:0011528 16 Feb 2016 Finding Solitary cyst of breast MONDO C0037619 MONDO:0001009 17 Apr 2020 Disease solitary kidney 10 Jun 2020 Finding Solitary kidney secondary to right nephrectomy due to grade 5 VUR CN235495 12 Mar 2016 Finding Solitary median maxillary central incisor syndrome MONDO C1840235 MONDO:0007819 147250 17 Apr 2020 Disease Solitary median maxillary central incisor syndrome Human Phenotype Ontology C1840235 HP:0006315 147250 17 Apr 2020 Disease Solitary necrotic nodule of the liver MONDO CN197336 MONDO:0015049 17 Apr 2020 Disease Solitary osseous plasmacytoma MONDO C0272256 MONDO:0002755 17 Apr 2020 Disease Solitary plasmacytoma of chest wall MONDO C1332936 MONDO:0002756 17 Apr 2020 Disease Solitary rectal ulcer syndrome MONDO C4274343 MONDO:0016208 17 Apr 2020 Disease Solitary renal cyst Human Phenotype Ontology C4022836 HP:0012581 16 Feb 2016 Finding Soluble interleukin-6 receptor, serum level of, quantitative trait locus NCBI curation C3553493 614689 24 Aug 2016 Disease Somatization disorder MONDO C0520482 MONDO:0001830 17 Apr 2020 Disease Somatoform disorder MONDO C0037650 MONDO:0003117 17 Apr 2020 Disease Somatomammotropinoma MONDO C4755297 MONDO:0017823 17 Apr 2020 Disease Somatomedin, embryonic NCBI curation C1866879 182400 16 Feb 2016 Disease Somatosensory auras Human Phenotype Ontology C4023502 HP:0011163 16 Feb 2016 Finding Somatostatin analog, resistance to NCBI curation C2676192 16 Feb 2016 Disease Somatostatinoma C0037661 16 Feb 2016 Disease Somatotroph adenoma NCBI curation C4538355 102200 16 Feb 2016 Disease Sommer Hines syndrome C1861233 187510 16 Feb 2016 Disease Sommer Rathbun Battles syndrome 16 Feb 2016 Disease Sommer Young Wee Frye syndrome 16 Feb 2016 Disease Somnambulism Human Phenotype Ontology C0037672 HP:0025236 02 Apr 2017 Finding Sondheimer syndrome 16 Feb 2016 Disease SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY OMIM CN282601 618912 618912 21 Jun 2020 Disease Sorsby fundus dystrophy NCBI curation C1850938 136900 136900 16 Feb 2016 Disease Sosby syndrome 16 Feb 2016 Disease Sotos syndrome OMIM phenotypic series C0175695 PS117550 31 Jan 2019 Disease Sotos syndrome 1 NCBI curation C4551477 117550 16 Feb 2016 Disease Sotos syndrome 2 NCBI curation C3553660 614753 16 Feb 2016 Disease Sotos syndrome 3 NCBI curation C4310684 617169 20 Jun 2017 Disease sound communication disorder 05 Sep 2019 Finding Sound sensitivity Human Phenotype Ontology C3843207 HP:0025112 02 Apr 2017 Finding SOX4-related neurodevelopmental disorder 21 May 2020 Disease Space motion sickness MONDO C0242700 MONDO:0003147 17 Apr 2020 Disease Spacticity of lower limbs 23 Jan 2020 Finding Sparganosis MONDO C0037753 MONDO:0005963 04 Jun 2020 Infectious disease Sparse anagen hair CN235238 19 Feb 2016 Finding Sparse and thin eyebrow Human Phenotype Ontology C4282407 HP:0000535 02 Apr 2017 Finding Sparse anterior scalp hair Human Phenotype Ontology C1866246 HP:0004768 16 Feb 2016 Finding Sparse axillary hair Human Phenotype Ontology C1858574 HP:0002215 16 Feb 2016 Finding Sparse body hair Human Phenotype Ontology C1862863 HP:0002231 16 Feb 2016 Finding Sparse bone trabeculae Human Phenotype Ontology C1833324 HP:0002752 16 Feb 2016 Finding Sparse curly hair CN235297 20 Feb 2016 Finding Sparse eyebrow Human Phenotype Ontology C1832446 HP:0045075 02 Apr 2017 Finding sparse eyebrows 20 Nov 2018 Finding Sparse eyelashes Human Phenotype Ontology C1843300 HP:0000653 16 Feb 2016 Finding Sparse facial hair Human Phenotype Ontology C2017869 HP:0007464 16 Feb 2016 Finding Sparse hair Human Phenotype Ontology C1837770 HP:0008070 16 Feb 2016 Finding Sparse hair ptosis mental retardation 16 Feb 2016 Disease Sparse hair-short stature-skin anomalies syndrome MONDO MONDO:0019206 17 Apr 2020 Disease Sparse lateral eyebrow Human Phenotype Ontology C1857206 HP:0005338 16 Feb 2016 Finding Sparse lower eyelashes Human Phenotype Ontology C1835148 HP:0007776 16 Feb 2016 Finding Sparse medial eyebrow Human Phenotype Ontology C1860256 HP:0025325 02 Apr 2017 Finding Sparse or absent eyelashes Human Phenotype Ontology C3551431 HP:0200102 16 Feb 2016 Finding Sparse pubic hair Human Phenotype Ontology C1858573 HP:0002225 16 Feb 2016 Finding sparse scalp 22 Aug 2019 Finding Sparse scalp hair Human Phenotype Ontology C1857042 HP:0002209 16 Feb 2016 Finding Sparse upper eyelashes Human Phenotype Ontology C4022468 HP:0040050 16 Feb 2016 Finding Sparse/curly hair CN235526 15 Mar 2016 Finding Sparteine, poor metabolism of NCBI curation 16 Feb 2016 Disease spasm of muscle 14 Mar 2019 Finding Spasmodic dysphonia 16 Feb 2016 Disease Spasmus nutans Human Phenotype Ontology C0546878 HP:0010533 16 Feb 2016 Finding Spastic angina with healthy coronary artery 16 Feb 2016 Disease Spastic ataxia OMIM phenotypic series C3151619 PS108600 270500 04 Apr 2018 Disease Spastic ataxia Human Phenotype Ontology C3151619 HP:0002497 270500 04 Apr 2018 Disease Spastic Ataxia 3 CN230089 16 Feb 2016 Disease Spastic Ataxia 4 CN230090 16 Feb 2016 Disease Spastic ataxia 5, autosomal recessive NCBI curation C3280977 614487 16 Feb 2016 Disease Spastic ataxia 7, autosomal dominant NCBI curation C1862441 108650 24 Aug 2016 Disease SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY OMIM C4479653 617560 617560 09 Jul 2017 Disease SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE OMIM C5193100 618438 618438 24 May 2019 Disease Spastic ataxia-corneal dystrophy syndrome MONDO C1849085 MONDO:0010064 271320 17 Apr 2020 Disease Spastic ataxia-dysarthria due to glutaminase deficiency MONDO CN262937 MONDO:0034146 17 Apr 2020 Disease Spastic cerebral palsy MONDO C0338596 MONDO:0000396 17 Apr 2020 Disease Spastic diplegia Human Phenotype Ontology C0023882 HP:0001264 16 Feb 2016 Finding Spastic diplegia and mental retardation MONDO C1849139 MONDO:0010042 270600 22 Apr 2020 Disease Spastic dysarthria Human Phenotype Ontology C0454596 HP:0002464 16 Feb 2016 Finding Spastic dystonic gait 21 Dec 2019 Finding Spastic ectropion MONDO C0155195 MONDO:0002044 17 Apr 2020 Disease Spastic entropion MONDO C0155190 MONDO:0001518 17 Apr 2020 Disease Spastic gait Human Phenotype Ontology C0231687 HP:0002064 16 Feb 2016 Finding Spastic hemiparesis Human Phenotype Ontology C0154694 HP:0011099 16 Feb 2016 Finding Spastic monoplegia MONDO C0154698 MONDO:0001169 17 Apr 2020 Disease Spastic paraparesis Human Phenotype Ontology C0037771 HP:0002313 16 Feb 2016 Disease Spastic paraparesis and deafness NCBI curation C2931291 312910 16 Feb 2016 Disease Spastic paraparesis deafness 16 Feb 2016 Disease Spastic paraplegia Human Phenotype Ontology C0037772 HP:0001258 16 Feb 2016 Disease Spastic paraplegia 11, autosomal recessive NCBI curation C1858479 604360 16 Feb 2016 Disease Spastic paraplegia 17 NCBI curation C2931276 270685 05 Dec 2019 Disease Spastic paraplegia 18 C2749936 611225 16 Feb 2016 Disease Spastic Paraplegia 2, mild, late onset 11 Oct 2019 Finding Spastic paraplegia 27, autosomal recessive NCBI curation C1836899 609041 16 Feb 2016 Disease Spastic Paraplegia 28 CN230085 16 Feb 2016 Disease Spastic paraplegia 28, autosomal recessive NCBI curation C1836295 609340 16 Feb 2016 Disease Spastic paraplegia 30, autosomal recessive NCBI curation C1835896 610357 16 Feb 2016 Disease Spastic paraplegia 31, autosomal dominant NCBI curation C1853247 610250 16 Feb 2016 Disease Spastic paraplegia 32, autosomal recessive NCBI curation C1970009 611252 16 Feb 2016 Disease Spastic paraplegia 33, autosomal dominant NCBI curation C1853251 610244 16 Feb 2016 Disease Spastic paraplegia 34, X-linked NCBI curation C2677897 300750 16 Feb 2016 Disease Spastic paraplegia 35 NCBI curation C3496228 612319 16 Feb 2016 Disease Spastic paraplegia 36, autosomal dominant NCBI curation C2936879 613096 16 Feb 2016 Disease Spastic paraplegia 37, autosomal dominant NCBI curation C2936880 611945 16 Feb 2016 Disease Spastic paraplegia 38, autosomal dominant NCBI curation C2676732 612335 16 Feb 2016 Disease Spastic paraplegia 3A, autosomal dominant CN260032 18 Jun 2019 Disease Spastic paraplegia 4, autosomal dominant NCBI curation C1866855 182601 16 Feb 2016 Disease Spastic paraplegia 4, modifier of NCBI curation 16 Feb 2016 Disease Spastic paraplegia 41, autosomal dominant NCBI curation C3888208 613364 16 Feb 2016 Disease Spastic paraplegia 42, autosomal dominant NCBI curation C2675528 612539 16 Feb 2016 Disease Spastic paraplegia 43, autosomal recessive NCBI curation C2680446 615043 16 Feb 2016 Disease Spastic paraplegia 44, autosomal recessive NCBI curation C2750784 613206 16 Feb 2016 Disease Spastic paraplegia 45, autosomal recessive NCBI curation C3888209 613162 16 Feb 2016 Disease Spastic paraplegia 46, autosomal recessive NCBI curation C2828721 614409 16 Feb 2016 Disease Spastic paraplegia 47, autosomal recessive NCBI curation C3279738 614066 26 May 2016 Disease Spastic paraplegia 48, autosomal recessive NCBI curation C3150901 613647 16 Feb 2016 Disease Spastic paraplegia 49, autosomal recessive NCBI curation C3542549 615031 16 Feb 2016 Disease Spastic Paraplegia 50 CN230082 16 Feb 2016 Disease Spastic paraplegia 50, autosomal recessive NCBI curation C2752008 612936 16 Feb 2016 Disease Spastic Paraplegia 51 CN230086 16 Feb 2016 Disease Spastic paraplegia 51, autosomal recessive NCBI curation C3151056 613744 16 Feb 2016 Disease Spastic Paraplegia 52 CN230088 16 Feb 2016 Disease Spastic paraplegia 52, autosomal recessive NCBI curation C3279743 614067 16 May 2016 Disease Spastic paraplegia 53, autosomal recessive NCBI curation C3539494 614898 16 Feb 2016 Disease Spastic paraplegia 54, autosomal recessive NCBI curation C3539495 615033 16 Feb 2016 Disease Spastic paraplegia 55, autosomal recessive NCBI curation C3539506 615035 16 Feb 2016 Disease Spastic Paraplegia 56 CN230083 16 Feb 2016 Disease Spastic paraplegia 56, autosomal recessive NCBI curation C3539507 615030 16 Feb 2016 Disease Spastic paraplegia 57, autosomal recessive NCBI curation C3714897 615658 16 Feb 2016 Disease Spastic paraplegia 59 CN240382 31 Jan 2017 Disease Spastic paraplegia 60 CN240383 31 Jan 2017 Disease Spastic paraplegia 61, autosomal recessive NCBI curation C3810294 615685 16 Feb 2016 Disease SPASTIC PARAPLEGIA 62 CN795022 07 Feb 2018 Disease Spastic paraplegia 62, autosomal recessive NCBI curation C4284588 615681 26 May 2016 Disease Spastic paraplegia 63, autosomal recessive NCBI curation C3810295 615686 16 Feb 2016 Disease Spastic paraplegia 64, autosomal recessive NCBI curation C3810289 615683 16 Feb 2016 Disease spastic paraplegia 66 CN240386 31 Jan 2017 Disease Spastic paraplegia 68 CN240384 31 Jan 2017 Disease Spastic paraplegia 71 CN240385 31 Jan 2017 Disease Spastic paraplegia 72, autosomal dominant NCBI curation C3810161 16 Feb 2016 Disease Spastic paraplegia 72, autosomal recessive NCBI curation C3810160 615625 16 Feb 2016 Disease Spastic paraplegia 73, autosomal dominant NCBI curation C4225387 616282 16 Feb 2016 Disease Spastic paraplegia 74, autosomal recessive NCBI curation C4225322 616451 16 Feb 2016 Disease Spastic paraplegia 75, autosomal recessive NCBI curation C4225250 616680 16 Feb 2016 Disease Spastic paraplegia 76, autosomal recessive NCBI curation C4310800 616907 22 Jun 2016 Disease Spastic paraplegia 77, autosomal recessive NCBI curation C4310750 617046 24 Aug 2016 Disease Spastic paraplegia 78, autosomal recessive NCBI curation C4310662 617225 20 Jun 2017 Disease Spastic paraplegia 79, autosomal recessive NCBI curation C3809665 615491 20 Jun 2017 Disease SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT OMIM C5193084 618418 618418 12 May 2019 Disease SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE OMIM CN263276 618768 618768 16 Feb 2020 Disease SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE OMIM CN263277 618770 618770 16 Feb 2020 Disease Spastic paraplegia 9b, autosomal recessive NCBI curation C4225272 616586 16 Feb 2016 Disease Spastic paraplegia and distal muscle wasting caused by neuropathy target esterase gene mutation 16 Feb 2016 Disease Spastic paraplegia and Evans syndrome NCBI curation C1866619 601608 16 Feb 2016 Disease Spastic paraplegia and psychomotor retardation with or without seizures NCBI curation C4225215 616756 16 Feb 2016 Disease Spastic paraplegia facial cutaneous lesions 16 Feb 2016 Disease Spastic paraplegia nephritis deafness 16 Feb 2016 Disease Spastic paraplegia with associated extrapyramidal signs NCBI curation C1866852 182800 16 Feb 2016 Disease Spastic paraplegia with myoclonic epilepsy NCBI curation C1849114 270805 16 Feb 2016 Disease Spastic paraplegia, ataxia, and mental retardation NCBI curation C1843661 607565 16 Feb 2016 Disease Spastic paraplegia, autosomal dominant NCBI curation CN239430 19 Jul 2018 Disease Spastic paraplegia, intellectual disability, nystagmus, and obesity NCBI curation C4284592 617296 20 Jun 2017 Disease Spastic paraplegia, optic atrophy, and dementia NCBI curation C1866849 182830 16 Feb 2016 Disease Spastic paraplegia, optic atrophy, and neuropathy NCBI curation C1836010 609541 16 Feb 2016 Disease Spastic paraplegia, optic atrophy, microcephaly, and xy sex reversal NCBI curation C1864185 603117 16 Feb 2016 Disease Spastic Paraplegia, Recessive CN239433 02 Dec 2016 Disease Spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy NCBI curation C1866853 182690 16 Feb 2016 Disease Spastic paraplegia-epilepsy-intellectual disability syndrome MONDO C1866854 MONDO:0008439 182610 17 Apr 2020 Disease Spastic paraplegia-facial-cutaneous lesions syndrome MONDO C2931617 MONDO:0017275 17 Apr 2020 Disease Spastic paraplegia-neuropathy-poikiloderma syndrome MONDO C1866851 MONDO:0008442 182815 17 Apr 2020 Disease Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder MONDO CN237550 MONDO:0018550 17 Apr 2020 Disease Spastic paraplegia-Paget disease of bone syndrome CN279277 23 Aug 2019 Disease Spastic paraplegia-precocious puberty syndrome MONDO C1866850 MONDO:0008443 182820 17 Apr 2020 Disease Spastic paresis glaucoma mental retardation 16 Feb 2016 Disease Spastic paresis, glaucoma, and mental retardation NCBI curation C1849113 270850 16 Feb 2016 Disease Spastic pseudosclerosis NCBI curation C0599464 270900 16 Feb 2016 Disease spastic quadraplegic cerebral palsy 05 Sep 2019 Finding Spastic tetraparesis Human Phenotype Ontology C0575059 HP:0001285 16 Feb 2016 Finding Spastic tetraplegia Human Phenotype Ontology C0426970 HP:0002510 16 Feb 2016 Finding SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE OMIM C5231422 618598 618598 27 Sep 2019 Disease Spastic tetraplegia, thin corpus callosum, and progressive microcephaly NCBI curation C4225254 616657 16 Feb 2016 Disease Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome MONDO C1849112 MONDO:0010051 270950 17 Apr 2020 Disease Spastic/hyperactive bladder Human Phenotype Ontology C1836904 HP:0005340 16 Feb 2016 Finding Spasticity Human Phenotype Ontology C0026838 HP:0001257 16 Feb 2016 Finding spasticity (lower extremities) CN224081 16 Feb 2016 Finding spasticity in upper and lower extremities CN232682 16 Feb 2016 Finding Spasticity mental retardation 16 Feb 2016 Disease Spasticity of facial muscles Human Phenotype Ontology C1853404 HP:0002491 16 Feb 2016 Finding Spasticity of pharyngeal muscles Human Phenotype Ontology C1853398 HP:0002501 16 Feb 2016 Finding Spasticity, childhood-onset, with hyperglycinemia NCBI curation C4225178 616859 29 Jul 2018 Disease SPATA7-Related Disorders CN239422 02 Dec 2016 Disease Spatial visualization, aptitude for NCBI curation C1839262 313000 16 Feb 2016 Disease Spatulate ribs Human Phenotype Ontology C1856637 HP:0012307 16 Feb 2016 Finding Spatulate thumbs Human Phenotype Ontology C0241395 HP:0001222 16 Feb 2016 Finding Spech delay CN235483 11 Mar 2016 Finding Specific anosmia Human Phenotype Ontology C4022994 HP:0012247 16 Feb 2016 Finding Specific anti-polysaccharide antibody deficiency Human Phenotype Ontology C4021747 HP:0002848 16 Feb 2016 Finding Specific antibody deficiency Human Phenotype Ontology C0398711 HP:0012475 16 Feb 2016 Finding Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells MONDO CN228973 MONDO:0015711 17 Apr 2020 Disease Specific developmental disorder MONDO MONDO:0000592 17 Apr 2020 Disease Specific granule deficiency OMIM phenotypic series C0398593 PS245480 02 Feb 2020 Disease Specific granule deficiency 1 NCBI curation C4551556 245480 02 Feb 2020 Disease Specific granule deficiency 2 NCBI curation C4479548 617475 20 Jun 2017 Disease Specific language disorder MONDO C4553954 MONDO:0016226 17 Apr 2020 Disease Specific language impairment OMIM phenotypic series C0454651 PS606711 30 Jul 2017 Disease Specific language impairment 1 NCBI curation C1847614 606711 16 Feb 2016 Disease Specific language impairment 2 NCBI curation C1847605 606712 16 Feb 2016 Disease Specific language impairment 3 NCBI curation C1846719 607134 16 Feb 2016 Disease Specific language impairment 4 NCBI curation C2675874 612514 16 Feb 2016 Disease Specific language impairment 5 NCBI curation C3809483 615432 16 Feb 2016 Disease Specific learning disability Human Phenotype Ontology C4025790 HP:0001328 16 Feb 2016 Finding Specific pneumococcal antibody deficiency Human Phenotype Ontology C4022890 HP:0012476 16 Feb 2016 Finding Speckled corneal dystrophy Human Phenotype Ontology C4021857 HP:0007962 16 Feb 2016 Finding Speech apraxia Human Phenotype Ontology C0264611 HP:0011098 16 Feb 2016 Finding Speech articulation difficulties Human Phenotype Ontology C1865313 HP:0009088 16 Feb 2016 Finding speech articulation disorder 05 Sep 2019 Finding Speech delay NCBI curation C0241210 16 Feb 2016 Disease Speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease NCBI curation C1866802 182875 16 Feb 2016 Disease speech developmental delay 05 Sep 2019 Finding speech difficulties C0233715 16 Feb 2016 Finding speech is mildly dysrthric CN232688 16 Feb 2016 Finding Speech regression 23 Jan 2020 Finding speech was delayed CN232687 16 Feb 2016 Finding Speech-language disorder 1 NCBI curation C0750927 602081 16 Feb 2016 Disease Speech-sound disorder NCBI curation C4019167 608445 16 Feb 2016 Disease Spellacy gibbs watts syndrome 16 Feb 2016 Disease sperm axonema without dynein arms and nexin bridges CN196904 16 Feb 2016 Disease Sperm head anomaly Human Phenotype Ontology C4022702 HP:0012865 16 Feb 2016 Finding Sperm mid-piece anomaly Human Phenotype Ontology C4022700 HP:0012867 16 Feb 2016 Finding Sperm neck anomaly Human Phenotype Ontology C4022701 HP:0012866 16 Feb 2016 Finding Sperm protamine p4 NCBI curation C1866801 182882 16 Feb 2016 Disease Sperm tail anomaly Human Phenotype Ontology C4022699 HP:0012868 16 Feb 2016 Finding Sperm-specific antigen 1 NCBI curation C1420425 601876 16 Feb 2016 Disease Spermatic cord cancer MONDO C0153603 MONDO:0001654 17 Apr 2020 Disease Spermatocytic seminoma NCBI curation C0334517 16 Feb 2016 Disease Spermatogenesis maturation arrest Human Phenotype Ontology C4477100 HP:0031038 04 Apr 2018 Finding Spermatogenic Failure C3553794 02 Dec 2016 Finding Spermatogenic failure 10 NCBI curation C3553793 614822 16 Feb 2016 Disease Spermatogenic failure 11 NCBI curation C3554453 615081 16 Oct 2016 Disease Spermatogenic failure 12 NCBI curation C3809427 615413 16 Feb 2016 Disease Spermatogenic failure 13 NCBI curation C4014449 615841 16 Feb 2016 Disease Spermatogenic failure 14 NCBI curation C4014454 615842 16 Feb 2016 Disease Spermatogenic failure 15 NCBI curation C4310779 616950 01 Jun 2016 Disease Spermatogenic failure 16 NCBI curation C4310674 617187 20 Jun 2017 Disease Spermatogenic failure 17 NCBI curation C4310666 617214 20 Jun 2017 Disease SPERMATOGENIC FAILURE 18 OMIM C4539783 617576 617576 22 Jul 2017 Disease SPERMATOGENIC FAILURE 19 OMIM C4539818 617592 617592 27 Jul 2017 Disease Spermatogenic failure 2 NCBI curation C1862459 108420 16 Feb 2016 Disease SPERMATOGENIC FAILURE 20 OMIM C4539824 617593 617593 27 Jul 2017 Disease SPERMATOGENIC FAILURE 21 OMIM C4539991 617644 617644 31 Aug 2017 Disease SPERMATOGENIC FAILURE 22 OMIM C4540179 617706 617706 01 Oct 2017 Disease SPERMATOGENIC FAILURE 23 OMIM C4540185 617707 617707 01 Oct 2017 Disease SPERMATOGENIC FAILURE 24 OMIM C4693751 617959 617959 05 May 2018 Disease SPERMATOGENIC FAILURE 25 OMIM C4693765 617960 617960 06 May 2018 Disease SPERMATOGENIC FAILURE 26 OMIM C4693773 617961 617961 06 May 2018 Disease SPERMATOGENIC FAILURE 27 OMIM C4693784 617965 617965 11 May 2018 Disease SPERMATOGENIC FAILURE 28 OMIM C4748117 618086 618086 15 Aug 2018 Disease Spermatogenic failure 29 NCBI curation C4748142 618091 21 Sep 2018 Disease Spermatogenic failure 3 NCBI curation C4721889 606766 16 Feb 2016 Disease SPERMATOGENIC FAILURE 30 OMIM C4748224 618110 618110 08 Sep 2018 Disease SPERMATOGENIC FAILURE 31 OMIM C4748234 618112 618112 09 Sep 2018 Disease SPERMATOGENIC FAILURE 32 OMIM C4748253 618115 618115 13 Sep 2018 Disease SPERMATOGENIC FAILURE 33 OMIM C4748395 618152 618152 24 Oct 2018 Disease SPERMATOGENIC FAILURE 34 OMIM C4748403 618153 618153 24 Oct 2018 Disease SPERMATOGENIC FAILURE 35 OMIM C5193038 618341 618341 28 Feb 2019 Disease SPERMATOGENIC FAILURE 36 OMIM C5193086 618420 618420 09 May 2019 Disease SPERMATOGENIC FAILURE 37 OMIM C5193091 618429 618429 15 May 2019 Disease SPERMATOGENIC FAILURE 38 OMIM C5193095 618433 618433 17 May 2019 Disease SPERMATOGENIC FAILURE 39 OMIM C5231438 618643 618643 27 Oct 2019 Disease Spermatogenic failure 4 MONDO C0232981 MONDO:0010052 270960 22 Apr 2020 Disease SPERMATOGENIC FAILURE 40 OMIM C5231451 618664 618664 22 Nov 2019 Disease SPERMATOGENIC FAILURE 41 OMIM C5231455 618670 618670 23 Nov 2019 Disease SPERMATOGENIC FAILURE 42 OMIM C5231488 618745 618745 25 Jan 2020 Disease SPERMATOGENIC FAILURE 43 OMIM C5231490 618751 618751 29 Jan 2020 Disease Spermatogenic failure 7 MONDO C2751811 MONDO:0013070 612997 22 Apr 2020 Disease Spermatogenic failure 8 NCBI curation C3151406 613957 16 Feb 2016 Disease Spermatogenic failure 9 NCBI curation C3151407 613958 16 Feb 2016 Disease Spermatogenic failure, susceptibility to NCBI curation 16 Feb 2016 Disease Spermatogenic failure, X-linked, 2 NCBI curation C1839841 309120 16 Feb 2016 Disease Spermatogenic failure, Y-linked 2 NCBI curation C1839071 415000 16 Feb 2016 Disease Spermatogenic failure, Y-linked, 1 NCBI curation C4551960 400042 16 Feb 2016 Disease SPG11-related spastic paraplegia 21 May 2020 Disease Sphenocavernous meningioma MONDO C1336036 MONDO:0004370 17 Apr 2020 Disease Sphenoid sinus inverted papilloma MONDO C1336037 MONDO:0004326 17 Apr 2020 Disease Sphenoid sinus Schneiderian papilloma MONDO C1336038 MONDO:0004327 17 Apr 2020 Disease Sphenoid sinus squamous cell carcinoma MONDO C1336039 MONDO:0001995 17 Apr 2020 Disease Sphenoid sinusitis MONDO C0037886 MONDO:0005964 17 Apr 2020 Disease Sphenoidal sinus cancer MONDO C0153479 MONDO:0001994 17 Apr 2020 Disease Sphenoidal sinus neoplasm MONDO C0345676 MONDO:0004047 17 Apr 2020 Disease Sphenoorbital meningioma MONDO C1336040 MONDO:0004368 17 Apr 2020 Disease Spherocytosis Human Phenotype Ontology C0553720 HP:0004444 16 Feb 2016 Finding Spherocytosis type 1 NCBI curation C2674218 182900 16 Feb 2016 Disease Spherocytosis type 2 NCBI curation C2674219 616649 16 Feb 2016 Disease Spherocytosis type 3 NCBI curation C2678338 270970 16 Feb 2016 Disease Spherocytosis type 4 NCBI curation C2675212 612653 16 Feb 2016 Disease Spherocytosis type 5 NCBI curation C2675192 612690 16 Feb 2016 Disease Spherocytosis, Dominant CN239455 02 Dec 2016 Disease Spherocytosis, Recessive CN239472 02 Dec 2016 Disease Spherocytosis, type 1, autosomal recessive NCBI curation C4017275 16 Feb 2016 Disease Spherocytosis, type 3, autosomal recessive NCBI curation C4016379 16 Feb 2016 Disease Spheroid body myopathy C1866785 182920 16 Feb 2016 Disease Sphincter of Oddi dyskinesia Human Phenotype Ontology C4048750 HP:0012441 16 Feb 2016 Finding Sphingolipid activator protein 1 deficiency C0268262 249900 16 Feb 2016 Disease Sphingolipidosis C0037899 16 Feb 2016 Disease Sphingolipidosis with epilepsy MONDO CN262095 MONDO:0018299 17 Apr 2020 Disease Sphingomyelin/cholesterol lipidosis NCBI curation C0028064 16 Feb 2016 Disease SPI1-related eosinophilia syndrome 27 Apr 2018 Finding Spider hemangioma Human Phenotype Ontology C4022867 HP:0012522 16 Feb 2016 Finding Spielmeyer-Vogt disease 16 Feb 2016 Disease Spigelian hernia-cryptorchidism syndrome MONDO CN203757 MONDO:0017798 17 Apr 2020 Disease Spina bifida Human Phenotype Ontology C0080178 HP:0002414 16 Feb 2016 Disease Spina bifida (disease) MONDO MONDO:0008449 17 Apr 2020 Disease Spina bifida hypospadias 16 Feb 2016 Disease Spina bifida occulta Human Phenotype Ontology C0080174 HP:0003298 16 Feb 2016 Finding Spina bifida occulta (disease) MONDO MONDO:0000859 17 Apr 2020 Disease Spina bifida occulta at L5 Human Phenotype Ontology C4025308 HP:0004601 16 Feb 2016 Finding Spina bifida occulta at S1 Human Phenotype Ontology C4025304 HP:0004614 16 Feb 2016 Finding Spina bifida, folate-sensitive NCBI curation C1866559 16 Feb 2016 Disease Spina bifida, folate-sensitive, susceptibility to NCBI curation 16 Feb 2016 Disease Spina bifida, susceptibility to NCBI curation 16 Feb 2016 Disease Spina bifida-hypospadias syndrome MONDO CN203872 MONDO:0017857 17 Apr 2020 Disease Spina bifida; Advanced Maternal Age Gravida 16 Feb 2016 Finding Spina bifida; congenital microcephaly 16 Feb 2016 Finding Spinal accessory nerve neoplasm MONDO C1263902 MONDO:0002626 17 Apr 2020 Disease Spinal arachnoiditis C1710146 182950 16 Feb 2016 Disease Spinal arteriovenous malformation Human Phenotype Ontology C0348023 HP:0002390 16 Feb 2016 Finding Spinal atrophy-ophthalmoplegia-pyramidal syndrome MONDO C2930956 MONDO:0015250 07 Jun 2020 Disease Spinal bulbar motor neuropathy 16 Feb 2016 Disease Spinal canal stenosis Human Phenotype Ontology C1861329 HP:0003416 16 Feb 2016 Finding Spinal chordoma MONDO C1859101 MONDO:0002894 17 Apr 2020 Disease Spinal cord astrocytoma MONDO C0349540 MONDO:0003174 17 Apr 2020 Disease Spinal cord cancer MONDO C0153646 MONDO:0003544 17 Apr 2020 Disease Spinal cord compression Human Phenotype Ontology C0037926 HP:0002176 16 Feb 2016 Finding Spinal cord dermoid cyst MONDO C1333278 MONDO:0004096 17 Apr 2020 Disease Spinal cord ependymoma MONDO C0238432 MONDO:0003473 17 Apr 2020 Disease Spinal cord glioma MONDO C2937245 MONDO:0002542 17 Apr 2020 Disease Spinal cord injury MONDO MONDO:0043797 17 Apr 2020 Disease Spinal cord intramedullary teratoma MONDO C1334259 MONDO:0002717 17 Apr 2020 Disease Spinal cord ischemia MONDO MONDO:0020688 17 Apr 2020 Disease Spinal cord lesion Human Phenotype Ontology C0241224 HP:0100561 16 Feb 2016 Finding Spinal cord lipoma MONDO C0347446 MONDO:0001790 17 Apr 2020 Disease Spinal cord lymphoma MONDO C1336044 MONDO:0001892 17 Apr 2020 Disease Spinal cord melanoma MONDO C1336045 MONDO:0001893 17 Apr 2020 Disease Spinal cord neoplasm 16 Feb 2016 Disease Spinal cord neuroblastoma MONDO C1336046 MONDO:0004024 17 Apr 2020 Disease Spinal cord oligodendroglioma MONDO C0346295 MONDO:0002541 17 Apr 2020 Disease Spinal cord posterior columns myelin loss Human Phenotype Ontology C4024706 HP:0008311 16 Feb 2016 Finding Spinal cord primitive neuroectodermal tumor MONDO C1336048 MONDO:0006426 17 Apr 2020 Disease Spinal cord sarcoma MONDO C1336049 MONDO:0001894 17 Apr 2020 Disease Spinal cord tumor Human Phenotype Ontology C0037930 HP:0010302 16 Feb 2016 Finding Spinal deformities Human Phenotype Ontology C0575157 HP:0008443 16 Feb 2016 Finding Spinal dysostosis type Anhalt 16 Feb 2016 Disease Spinal dysplasia Human Phenotype Ontology C4021853 HP:0008423 16 Feb 2016 Finding Spinal dysplasia, anhalt type NCBI curation C1832464 601344 16 Feb 2016 Disease Spinal dysraphism Human Phenotype Ontology CN218435 HP:0010301 16 Feb 2016 Finding Spinal fracture MONDO MONDO:0005309 17 Apr 2020 Disease Spinal hemangioblastoma Human Phenotype Ontology C4024223 HP:0009713 16 Feb 2016 Finding Spinal injury MONDO MONDO:0037747 17 Apr 2020 Disease Spinal instability Human Phenotype Ontology C0410648 HP:0005881 16 Feb 2016 Finding Spinal meningeal diverticulum Human Phenotype Ontology C4023913 HP:0010304 16 Feb 2016 Finding Spinal meninges cancer MONDO C0153647 MONDO:0004151 17 Apr 2020 Disease Spinal meningioma Human Phenotype Ontology C0347515 HP:0100010 16 Feb 2016 Finding Spinal multifocal clear cell meningioma MONDO C1336051 MONDO:0004371 17 Apr 2020 Disease Spinal muscular atrophy Human Phenotype Ontology C0026847 HP:0007269 16 Feb 2016 Disease Spinal muscular atrophy associated with central nervous system anomaly MONDO CN226838 MONDO:0016131 17 Apr 2020 Disease Spinal muscular atrophy progressive form 16 Feb 2016 Disease Spinal muscular atrophy with congenital bone fractures OMIM phenotypic series CN238807 PS616866 23 Oct 2016 Disease Spinal muscular atrophy with congenital bone fractures 1 NCBI curation C4225177 616866 24 Aug 2016 Disease Spinal muscular atrophy with congenital bone fractures 2 NCBI curation C4225176 616867 26 May 2016 Disease Spinal muscular atrophy with lower extremity predominance NCBI curation C4750288 16 Jan 2020 Disease Spinal muscular atrophy with mental retardation NCBI curation C1849109 271109 16 Feb 2016 Disease Spinal muscular atrophy with microcephaly and mental subnormality NCBI curation C1849108 271110 16 Feb 2016 Disease Spinal muscular atrophy with respiratory distress type 2 MONDO C4749434 MONDO:0018450 17 Apr 2020 Disease Spinal muscular atrophy, distal, autosomal recessive, 1 NCBI curation C1858517 604320 24 Aug 2016 Disease Spinal muscular atrophy, distal, autosomal recessive, 5 NCBI curation C3553989 614881 16 Feb 2016 Disease Spinal Muscular Atrophy, Dominant CN239253 02 Dec 2016 Disease Spinal muscular atrophy, facioscapulohumeral type NCBI curation C1866783 182970 16 Feb 2016 Disease Spinal muscular atrophy, jokela type NCBI curation C3554398 615048 16 Feb 2016 Disease Spinal muscular atrophy, late-onset, finkel type NCBI curation C1854058 16 Feb 2016 Disease Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant NCBI curation C1834690 158600 16 Feb 2016 Disease Spinal muscular atrophy, lower extremity-predominant, 2, AD CN233041 16 Feb 2016 Disease Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant NCBI curation C4747715 615290 09 Aug 2019 Disease SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT OMIM C4749003 618291 618291 01 Feb 2019 Disease Spinal muscular atrophy, modifier of NCBI curation 16 Feb 2016 Disease Spinal muscular atrophy, Ryukyuan type MONDO C1849102 MONDO:0010057 271200 22 Apr 2020 Disease Spinal muscular atrophy, scapuloperoneal NCBI curation CN074295 271220 16 Feb 2016 Disease Spinal muscular atrophy, segmental MONDO C1866774 MONDO:0008455 183020 22 Apr 2020 Disease Spinal muscular atrophy, type II C0393538 253550 16 Feb 2016 Disease Spinal muscular atrophy, X-linked 2 NCBI curation C1844934 301830 16 Sep 2018 Disease Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome MONDO CN205656 MONDO:0019132 17 Apr 2020 Disease Spinal muscular atrophy-progressive myoclonic epilepsy syndrome MONDO C1834569 MONDO:0008045 159950 17 Apr 2020 Disease Spinal myoclonus Human Phenotype Ontology C3697670 HP:0010531 16 Feb 2016 Finding Spinal neurenteric cyst Human Phenotype Ontology C4280799 HP:0030726 02 Apr 2017 Finding Spinal neurofibromas Human Phenotype Ontology C4024217 HP:0009735 16 Feb 2016 Finding Spinal polio MONDO CN281933 MONDO:0000339 04 Jun 2020 Infectious disease Spinal rigidity Human Phenotype Ontology C1858025 HP:0003306 16 Feb 2016 Finding Spinal segmentation defect CN243978 11 May 2017 Finding Spinal shock 16 Feb 2016 Disease Spinal stenosis with reduced interpedicular distance Human Phenotype Ontology C4021625 HP:0005733 16 Feb 2016 Finding Spinalarachnoid cyst Human Phenotype Ontology C4021393 HP:0009745 16 Feb 2016 Finding Spindle cell hemangioma MONDO C1304508 MONDO:0016222 17 Apr 2020 Disease Spindle cell intraocular melanoma MONDO C0279687 MONDO:0003744 17 Apr 2020 Disease Spindle cell lipoma MONDO C0334474 MONDO:0000962 17 Apr 2020 Disease Spindle cell liposarcoma MONDO C1275275 MONDO:0003596 17 Apr 2020 Disease Spindle cell melanoma MONDO C0334444 MONDO:0006427 17 Apr 2020 Disease Spindle cell neoplasm MONDO C1336052 MONDO:0020664 17 Apr 2020 Disease Spindle cell nevus MONDO C0206738 MONDO:0044796 17 Apr 2020 Disease Spindle cell rhabdomyosarcoma MONDO C1266134 MONDO:0002581 17 Apr 2020 Disease Spindle cell sarcoma C0205945 15 Nov 2018 Disease Spindle cell synovial sarcoma MONDO C0334505 MONDO:0003466 17 Apr 2020 Disease Spindle cell variant squamous cell breast carcinoma MONDO C1519487 MONDO:0004231 17 Apr 2020 Disease Spindle-shaped finger Human Phenotype Ontology C4230397 HP:0031092 04 Apr 2018 Finding Spine rigid cardiomyopathy 16 Feb 2016 Disease SPINK5 POLYMORPHISM 02 Aug 2017 Disease spino-cellular carcinoma CN219574 16 Feb 2016 Finding Spinocerebellar ataxia 29, congenital nonprogressive CN260031 18 Jun 2019 Disease Spinocerebellar ataxia 32 NCBI curation C3151343 613909 16 Feb 2016 Disease Spinocerebellar ataxia 35 NCBI curation C3888031 613908 16 Feb 2016 Disease Spinocerebellar ataxia 36 NCBI curation C3472711 614153 16 Feb 2016 Disease Spinocerebellar ataxia 37 NCBI curation C3889636 615945 16 Feb 2016 Disease Spinocerebellar ataxia 38 NCBI curation C4518337 615957 16 Feb 2016 Disease Spinocerebellar ataxia 40 NCBI curation C4518336 SCA40 616053 13 Jul 2018 Disease Spinocerebellar ataxia 41 NCBI curation C4225158 616410 16 Feb 2016 Disease Spinocerebellar ataxia 42 NCBI curation C4225205 616795 16 Feb 2016 Disease SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS OMIM C4748120 618087 618087 16 Aug 2018 Disease Spinocerebellar ataxia 43 NCBI curation C4310763 617018 24 Aug 2016 Disease SPINOCEREBELLAR ATAXIA 44 OMIM C4521563 617691 617691 27 Sep 2017 Disease SPINOCEREBELLAR ATAXIA 45 OMIM C4540400 617769 617769 18 Nov 2017 Disease SPINOCEREBELLAR ATAXIA 46 OMIM C4540404 617770 617770 18 Nov 2017 Disease SPINOCEREBELLAR ATAXIA 47 OMIM C4693672 617931 617931 03 May 2018 Disease SPINOCEREBELLAR ATAXIA 47, EARLY-ONSET 03 May 2018 Disease SPINOCEREBELLAR ATAXIA 48 OMIM C4748158 618093 618093 08 Nov 2018 Disease Spinocerebellar ataxia 7 NCBI curation C0752125 164500 16 May 2016 Disease Spinocerebellar ataxia type 1 MONDO C0752120 MONDO:0008119 164400 22 Apr 2020 Disease Spinocerebellar ataxia type 10 MONDO C1963674 MONDO:0011330 603516 22 Apr 2020 Disease Spinocerebellar ataxia type 11 MONDO C1858351 MONDO:0011464 604432 22 Apr 2020 Disease Spinocerebellar ataxia type 12 MONDO C1858501 MONDO:0011439 604326 22 Apr 2020 Disease Spinocerebellar ataxia type 13 MONDO C1854488 MONDO:0011529 605259 22 Apr 2020 Disease Spinocerebellar ataxia type 14 MONDO C1854369 MONDO:0011540 605361 22 Apr 2020 Disease Spinocerebellar ataxia type 15/16 NCBI curation C4274322 27 Apr 2018 Disease Spinocerebellar ataxia type 16 MONDO C1847725 MONDO:0000561 606658 22 Apr 2020 Disease Spinocerebellar ataxia type 17 MONDO C1846707 MONDO:0011781 607136 22 Apr 2020 Disease Spinocerebellar ataxia type 18 MONDO C1843884 MONDO:0011834 607458 22 Apr 2020 Disease Spinocerebellar ataxia type 19/22 MONDO C1846367 MONDO:0011819 607346 17 Apr 2020 Disease Spinocerebellar ataxia type 2 MONDO C0752121 MONDO:0008458 183090 22 Apr 2020 Disease Spinocerebellar ataxia type 20 MONDO C1837541 MONDO:0012098 608687 22 Apr 2020 Disease Spinocerebellar ataxia type 21 MONDO C1843891 MONDO:0011833 607454 22 Apr 2020 Disease Spinocerebellar ataxia type 23 MONDO C1853250 MONDO:0012449 610245 22 Apr 2020 Disease Spinocerebellar ataxia type 25 MONDO C1837518 MONDO:0012103 608703 22 Apr 2020 Disease Spinocerebellar ataxia type 26 MONDO C1836395 MONDO:0012246 609306 22 Apr 2020 Disease Spinocerebellar ataxia type 27 MONDO C1836383 MONDO:0012247 609307 22 Apr 2020 Disease Spinocerebellar ataxia type 28 MONDO C1853249 MONDO:0012450 610246 22 Apr 2020 Disease Spinocerebellar ataxia type 29 MONDO C1861732 MONDO:0007298 117360 22 Apr 2020 Disease Spinocerebellar ataxia type 30 MONDO C2936793 MONDO:0013241 613371 22 Apr 2020 Disease Spinocerebellar ataxia type 31 MONDO C1861736 MONDO:0007296 117210 22 Apr 2020 Disease Spinocerebellar ataxia type 34 MONDO C1851481 MONDO:0007574 133190 22 Apr 2020 Disease Spinocerebellar ataxia type 4 MONDO C0752122 MONDO:0010847 600223 22 Apr 2020 Disease Spinocerebellar ataxia type 5 MONDO C0752123 MONDO:0010848 600224 22 Apr 2020 Disease Spinocerebellar ataxia type 6 MONDO C0752124 MONDO:0008457 183086 22 Apr 2020 Disease Spinocerebellar ataxia type 8 MONDO C1837454 MONDO:0012116 608768 22 Apr 2020 Disease Spinocerebellar Ataxia Type19 CN230137 16 Feb 2016 Disease Spinocerebellar ataxia with oculomotor anomaly MONDO MONDO:0020263 17 Apr 2020 Disease Spinocerebellar ataxia with rigidity and peripheral neuropathy NCBI curation C1866770 183050 16 Feb 2016 Disease Spinocerebellar ataxia, autosomal recessive OMIM phenotypic series CN263206 PS213200 25 Jan 2020 Disease Spinocerebellar ataxia, autosomal recessive 10 NCBI curation C3150998 613728 16 Feb 2016 Disease Spinocerebellar ataxia, autosomal recessive 11 NCBI curation C3280226 614229 16 Feb 2016 Disease Spinocerebellar ataxia, autosomal recessive 12 NCBI curation C3280452 614322 16 Feb 2016 Disease Spinocerebellar ataxia, autosomal recessive 13 NCBI curation C3553816 614831 16 Feb 2016 Disease Spinocerebellar ataxia, autosomal recessive 14 NCBI curation C3809327 615386 16 Feb 2016 Disease Spinocerebellar ataxia, autosomal recessive 15 NCBI curation C3810326 615705 16 Feb 2016 Disease Spinocerebellar ataxia, autosomal recessive 16 NCBI curation C4014261 615768 16 Feb 2016 Disease Spinocerebellar ataxia, autosomal recessive 17 NCBI curation C4015301 616127 16 Feb 2016 Disease Spinocerebellar ataxia, autosomal recessive 18 NCBI curation C4015505 616204 16 Feb 2016 Disease Spinocerebellar ataxia, autosomal recessive 2 NCBI curation C1859298 213200 16 Feb 2016 Disease Spinocerebellar ataxia, autosomal recessive 20 NCBI curation C4225355 616354 16 Feb 2016 Disease Spinocerebellar ataxia, autosomal recessive 21 NCBI curation C4225236 616719 16 Feb 2016 Disease Spinocerebellar ataxia, autosomal recessive 22 NCBI curation C4310781 616948 23 Oct 2016 Disease Spinocerebellar ataxia, autosomal recessive 23 NCBI curation C4310780 616949 26 Oct 2018 Disease Spinocerebellar ataxia, autosomal recessive 24 NCBI curation C4310699 617133 20 Jun 2017 Disease SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 OMIM C4539808 617584 617584 27 Jul 2017 Disease SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 OMIM C4539948 617633 617633 24 Aug 2017 Disease SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 OMIM C5193058 618369 618369 30 Mar 2019 Disease SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28 OMIM CN263364 618800 618800 14 Mar 2020 Disease Spinocerebellar ataxia, autosomal recessive 8 NCBI curation C1853116 610743 16 Feb 2016 Disease Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy OMIM phenotypic series C1846574 PS607250 28 May 2020 Disease Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy MONDO C1846574 MONDO:0020771 28 May 2020 Disease Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 NCBI curation C4759870 607250 03 Jan 2020 Disease Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 NCBI curation C1853761 606002 03 Jan 2020 Disease Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 NCBI curation C5193070 618387 03 Jan 2020 Disease Spinocerebellar Ataxia, Dominant CN227858 02 Dec 2016 Disease Spinocerebellar ataxia, X-linked CN232400 16 Feb 2016 Disease Spinocerebellar ataxia, X-linked 1 NCBI curation C0796205 302500 16 Feb 2016 Disease Spinocerebellar ataxia, X-linked 2 MONDO C1844885 MONDO:0010548 302600 22 Apr 2020 Disease Spinocerebellar ataxia, X-linked 5 NCBI curation C2678048 300703 16 Feb 2016 Disease Spinocerebellar ataxia-dysmorphism syndrome MONDO C1849088 MONDO:0010062 271270 17 Apr 2020 Disease Spinocerebellar atrophy Human Phenotype Ontology C0087012 HP:0007263 04 Apr 2018 Disease Spinocerebellar atrophy with pupillary paralysis NCBI curation C1866746 183100 16 Feb 2016 Disease Spinocerebellar degeneration with slow eye movements NCBI curation C2931904 271322 16 Feb 2016 Disease Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly MONDO MONDO:0020264 17 Apr 2020 Disease Spinocerebellar degenerescence book type 16 Feb 2016 Disease spinocerebellar disease C0037952 14 Mar 2019 Finding Spinocerebellar tract degeneration Human Phenotype Ontology C1866751 HP:0002503 16 Feb 2016 Finding Spinocerebellar tract disease in lower limbs Human Phenotype Ontology C4024919 HP:0007232 16 Feb 2016 Finding Spinous keratoses of palms and soles Human Phenotype Ontology C4024830 HP:0007613 16 Feb 2016 Finding Spirillary rat-bite fever MONDO C0152062 MONDO:0020532 04 Jun 2020 Infectious disease Spirochetal infection C0037974 16 Feb 2016 Infectious disease Spirurida Infections 16 Feb 2016 Disease Spitz nevus C0206739 16 Feb 2016 Disease SPITZ NEVUS, SOMATIC 16 Feb 2016 Disease Splanchnic vein thrombosis Human Phenotype Ontology C4022560 HP:0030247 16 Feb 2016 Finding Splayed cerebellum 03 Mar 2020 Finding Splayed epiphyses Human Phenotype Ontology C4021906 HP:0200003 16 Feb 2016 Finding Splayed fingers Human Phenotype Ontology C4021057 HP:0030029 16 Feb 2016 Finding Splayed superior cerebellar peduncle Human Phenotype Ontology C4022536 HP:0030285 16 Feb 2016 Finding Splayed toes Human Phenotype Ontology C2117390 HP:0011307 16 Feb 2016 Finding Spleen angiosarcoma MONDO C0346424 MONDO:0002376 17 Apr 2020 Disease Spleen Biopsy suggestive of Gaucher Disease CN236798 24 Jun 2016 Finding Spleen cancer MONDO MONDO:0005966 17 Apr 2020 Disease Spleen neoplasm 16 Feb 2016 Disease Splenic abscess Human Phenotype Ontology C0272412 HP:0025059 02 Apr 2017 Infectious disease Splenic artery aneurysm MONDO C0155747 MONDO:0001856 17 Apr 2020 Disease Splenic cyst Human Phenotype Ontology C0272407 HP:0030423 16 Feb 2016 Finding Splenic diffuse large B-cell lymphoma MONDO C2018774 MONDO:0006428 17 Apr 2020 Disease Splenic diffuse red pulp small B-cell lymphoma MONDO C2699508 MONDO:0017599 17 Apr 2020 Disease Splenic disease MONDO C0037997 MONDO:0002332 17 Apr 2020 Disease Splenic flexure cancer MONDO C0153440 MONDO:0001463 17 Apr 2020 Disease Splenic hemangioma MONDO C0685201 MONDO:0002343 17 Apr 2020 Disease Splenic hodgkin lymphoma MONDO C0153791 MONDO:0006429 17 Apr 2020 Disease Splenic infarction MONDO C0037998 MONDO:0006978 17 Apr 2020 Disease Splenic infarcts 16 Feb 2016 Disease Splenic manifestation of hairy cell leukemia MONDO C1336064 MONDO:0004104 17 Apr 2020 Disease Splenic manifestation of leukemia MONDO C1336065 MONDO:0004107 17 Apr 2020 Disease Splenic manifestation of prolymphocytic leukemia MONDO C1336066 MONDO:0002966 17 Apr 2020 Disease Splenic mantle cell lymphoma MONDO C2018777 MONDO:0006430 17 Apr 2020 Disease Splenic marginal zone lymphoma MONDO C0349632 MONDO:0019462 17 Apr 2020 Disease Splenic rupture Human Phenotype Ontology C0038000 HP:0012223 16 Feb 2016 Finding Splenic sequestration MONDO MONDO:0001366 17 Apr 2020 Disease Splenic tuberculosis MONDO C0041331 MONDO:0005967 04 Jun 2020 Infectious disease Splenogonadal fusion Human Phenotype Ontology C0266636 HP:0025410 04 Apr 2018 Finding Splenogonadal fusion-limb defects-micrognathia syndrome MONDO C1866745 MONDO:0008460 183300 17 Apr 2020 Disease Splenomegaly Human Phenotype Ontology C0038002 HP:0001744 16 Feb 2016 Finding Splenomegaly syndrome with splenic germinal center hypoplasia and reduced circulating T-helper cells NCBI curation C1866744 183350 16 Feb 2016 Disease Splenomegaly, cytopenia, and vision loss NCBI curation C3554278 614979 16 Feb 2016 Disease Splenoportal vascular anomaly NCBI curation C0340826 271500 16 Feb 2016 Disease Spliceosomepathy 13 Nov 2017 Disease Split foot Human Phenotype Ontology C0432028 HP:0001839 16 Feb 2016 Finding Split foot (disease) MONDO MONDO:0017450 17 Apr 2020 Disease Split foot, bilateral MONDO MONDO:0017514 17 Apr 2020 Disease Split foot, unilateral MONDO MONDO:0017513 17 Apr 2020 Disease Split hand Human Phenotype Ontology C0221373 HP:0001171 16 Feb 2016 Finding Split hand (disease) MONDO MONDO:0017449 17 Apr 2020 Disease Split hand or/and split foot malformation MONDO MONDO:0017423 17 Apr 2020 Disease Split hand split foot malformation autosomal recessive 16 Feb 2016 Disease Split hand split foot mandibular hypoplasia 16 Feb 2016 Disease Split hand urinary anomalies spina bifida 16 Feb 2016 Disease Split hand, bilateral MONDO MONDO:0017512 17 Apr 2020 Disease Split hand, unilateral MONDO MONDO:0017511 17 Apr 2020 Disease Split hand-foot malformation 2 MONDO C1839258 MONDO:0010736 313350 17 Apr 2020 Disease Split hand-foot malformation 3 MONDO C1838652 MONDO:0009525 246560 17 Apr 2020 Disease Split lower lip NCBI curation C1866743 183400 16 Feb 2016 Disease Split nail Human Phenotype Ontology C0263530 HP:0001809 16 Feb 2016 Finding Split-foot malformation with mesoaxial polydactyly NCBI curation C4225167 616890 17 Nov 2017 Disease Split-hand and split-foot with hypodontia NCBI curation C1866742 183500 16 Feb 2016 Disease Split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects NCBI curation C1866739 183802 16 Feb 2016 Disease Split-hand/foot malformation OMIM phenotypic series C2699510 PS183600 05 Dec 2019 Disease Split-hand/foot malformation 1 NCBI curation C2931019 183600 16 Feb 2016 Disease Split-hand/foot malformation 1 with sensorineural hearing loss NCBI curation C1857344 220600 16 Feb 2016 Disease Split-hand/foot malformation 4 NCBI curation C1854442 605289 16 Feb 2016 Disease Split-hand/foot malformation 5 NCBI curation C1847622 606708 16 Feb 2016 Disease Split-hand/foot malformation 6 NCBI curation C2749665 225300 16 Feb 2016 Disease Split-hand/foot malformation with long bone deficiency 2 NCBI curation C1853156 610685 16 Feb 2016 Disease Spoken Word Recognition Deficit Human Phenotype Ontology C4072928 HP:0030391 16 Feb 2016 Finding Sponastrime dysplasia C1300260 271510 16 Feb 2016 Disease Spondylarthritis 16 Feb 2016 Disease Spondylarthropathy 16 Feb 2016 Disease Spondylitis MONDO MONDO:0003937 17 Apr 2020 Disease Spondylo-epi-(meta)-physeal dysplasia MONDO CN279273 MONDO:0016761 17 Apr 2020 Disease Spondylo-megaepiphyseal-metaphyseal dysplasia NCBI curation C2750066 613330 16 Feb 2016 Disease Spondyloarthropathy MONDO MONDO:0005095 17 Apr 2020 Disease Spondyloarthropathy 2 NCBI curation C1866738 183840 16 Feb 2016 Disease Spondyloarthropathy 3 NCBI curation C2750474 613238 16 Feb 2016 Disease Spondyloarthropathy, susceptibility to OMIM phenotypic series CN118840 PS106300 16 Feb 2016 Disease Spondylocamptodactyly syndrome MONDO C1838781 MONDO:0010801 600000 17 Apr 2020 Disease Spondylocarpotarsal synostosis syndrome C1848934 272460 16 Feb 2016 Disease Spondylocheirodysplasia, Ehlers-Danlos syndrome-like NCBI curation C2676510 612350 16 Feb 2016 Disease Spondylocostal dysostosis 1, autosomal recessive NCBI curation CN032975 277300 24 Aug 2016 Disease Spondylocostal dysostosis 2, autosomal recessive MONDO C1837549 MONDO:0012097 608681 22 Apr 2020 Disease Spondylocostal dysostosis 3, autosomal recessive MONDO C1853296 MONDO:0012349 609813 22 Apr 2020 Disease Spondylocostal dysostosis 4, autosomal recessive NCBI curation C3150942 613686 16 Feb 2016 Disease Spondylocostal dysostosis 5 NCBI curation C4083048 122600 16 Feb 2016 Disease Spondylocostal dysostosis 6, autosomal recessive NCBI curation C4225279 616566 16 Feb 2016 Disease Spondylocostal dysostosis with anal atresia and urogenital anomalies NCBI curation C1849069 271520 16 Feb 2016 Disease Spondylocostal dysostosis-hypospadias-intellectual disability syndrome MONDO C4751002 MONDO:0017995 17 Apr 2020 Disease Spondylodysplasia and premature pubarche NCBI curation C2748516 16 Feb 2016 Disease Spondylodysplastic dysplasia MONDO CN229204 MONDO:0019694 17 Apr 2020 Disease Spondylodysplastic ehlers-danlos syndrome MONDO CN261067 MONDO:0034021 17 Apr 2020 Disease Spondyloenchondrodysplasia NCBI curation C0432222 16 Feb 2016 Disease Spondyloenchondrodysplasia with d-2-hydroxyglutaric aciduria NCBI curation 16 Feb 2016 Disease Spondyloenchondrodysplasia with immune dysregulation NCBI curation C1842763 607944 16 May 2016 Disease Spondyloepimetaphyseal dysplasia Human Phenotype Ontology C0432211 HP:0002651 16 Feb 2016 Finding Spondyloepimetaphyseal dysplasia Matrilin-3 related NCBI curation C1837481 608728 02 Feb 2018 Disease Spondyloepimetaphyseal dysplasia with abnormal dentition NCBI curation C1866507 601668 16 Feb 2016 Disease Spondyloepimetaphyseal dysplasia with joint laxity OMIM phenotypic series C0432243 PS271640 06 Feb 2020 Disease Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures NCBI curation C4017378 24 Dec 2017 Disease Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures NCBI curation C4017377 271640 06 Feb 2020 Disease Spondyloepimetaphyseal dysplasia with joint laxity, type 2 NCBI curation C1863732 603546 06 Feb 2020 Disease SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3 OMIM C5193073 618395 618395 19 Apr 2019 Disease Spondyloepimetaphyseal dysplasia, Aggrecan type C2748544 612813 16 Feb 2016 Disease SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE OMIM C4693799 617974 617974 13 May 2018 Disease Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type NCBI curation C4225232 616723 16 Feb 2016 Disease Spondyloepimetaphyseal dysplasia, Genevieve type MONDO C1864872 MONDO:0012495 610442 22 Apr 2020 Disease Spondyloepimetaphyseal dysplasia, Isidor type MONDO C5190629 MONDO:0018254 17 Apr 2020 Disease SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE OMIM C5231478 618728 618728 08 Jan 2020 Disease SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE OMIM C4748455 618162 618162 31 Oct 2018 Disease Spondyloepimetaphyseal dysplasia, Missouri type NCBI curation C1865832 602111 16 Feb 2016 Disease Spondyloepimetaphyseal dysplasia, pakistani type NCBI curation C2748515 612847 16 Feb 2016 Disease Spondyloepimetaphyseal dysplasia, Shohat type MONDO C1865185 MONDO:0011252 602557 22 Apr 2020 Disease Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy NCBI curation C1846148 300232 04 Dec 2019 Disease Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome MONDO C1866728 MONDO:0008469 183849 17 Apr 2020 Disease Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome MONDO C1849011 MONDO:0010077 271665 17 Apr 2020 Disease Spondyloepiphyseal dysplasia congenita MONDO C2745959 MONDO:0008471 183900 17 Apr 2020 Disease Spondyloepiphyseal dysplasia Maroteaux type NCBI curation C3159322 184095 16 Feb 2016 Disease Spondyloepiphyseal dysplasia MIR140 type Nishimura 21 Dec 2018 Finding Spondyloepiphyseal dysplasia tarda NCBI curation C3541456 313400 16 Feb 2016 Disease Spondyloepiphyseal dysplasia tarda with characteristic facies NCBI curation C1838653 600093 16 Feb 2016 Disease Spondyloepiphyseal dysplasia tarda with mental retardation NCBI curation C1849053 271620 16 Feb 2016 Disease Spondyloepiphyseal dysplasia tarda, autosomal dominant MONDO C1866717 MONDO:0008474 184100 22 Apr 2020 Disease Spondyloepiphyseal dysplasia tarda, autosomal recessive NCBI curation C1849054 271600 16 Feb 2016 Disease Spondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-spranger type NCBI curation C1836584 609223 16 Feb 2016 Disease Spondyloepiphyseal dysplasia with atlantoaxial instability NCBI curation C1833603 600561 16 Feb 2016 Disease Spondyloepiphyseal dysplasia with congenital joint dislocations NCBI curation C1837657 143095 16 Feb 2016 Disease Spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation NCBI curation C1865134 602611 16 Feb 2016 Disease Spondyloepiphyseal dysplasia with punctate corneal dystrophy NCBI curation C1866727 183850 16 Feb 2016 Disease Spondyloepiphyseal dysplasia, Cantu type MONDO C2673649 MONDO:0012716 611717 17 Apr 2020 Disease Spondyloepiphyseal dysplasia, kimberley type NCBI curation C1842149 608361 16 Feb 2016 Disease SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE OMIM C5193071 618392 618392 17 Apr 2019 Disease Spondyloepiphyseal dysplasia, myopia, and sensorineural deafness NCBI curation C1866719 184000 16 Feb 2016 Disease Spondyloepiphyseal dysplasia, namaqualand type NCBI curation 16 Feb 2016 Disease SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE OMIM C4305147 618618 618618 11 Oct 2019 Disease Spondyloepiphyseal dysplasia, stanescu type NCBI curation C4225273 616583 16 Feb 2016 Disease Spondylohypoplasia, arthrogryposis and popliteal pterygium 16 Feb 2016 Disease Spondylolisthesis Human Phenotype Ontology C0038016 HP:0003302 184200 16 Feb 2016 Disease Spondylolisthesis at L5-S1 Human Phenotype Ontology C3275799 HP:0008489 16 Feb 2016 Finding Spondylolysis Human Phenotype Ontology C0038018 HP:0003304 16 Feb 2016 Finding Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness NCBI curation C1865022 609616 16 Feb 2016 Disease Spondylometaphyseal dysplasia Human Phenotype Ontology C0700635 HP:0002657 184250 19 Mar 2018 Disease Spondylometaphyseal dysplasia - Sutcliffe type C0432221 184255 16 Feb 2016 Disease Spondylometaphyseal dysplasia, A4 type MONDO C1836862 MONDO:0012185 609052 22 Apr 2020 Disease Spondylometaphyseal dysplasia, Czarny-Ratajczak type MONDO C5190628 MONDO:0018255 17 Apr 2020 Disease Spondylometaphyseal dysplasia, East African type MONDO C2673686 MONDO:0012713 611702 22 Apr 2020 Disease Spondylometaphyseal dysplasia, Golden type MONDO C0796172 MONDO:0010738 313420 17 Apr 2020 Disease Spondylometaphyseal dysplasia, Kozlowski type NCBI curation C0265280 184252 16 Feb 2016 Disease Spondylometaphyseal dysplasia, megarbane-dagher-melki type NCBI curation C2750075 613320 24 Aug 2016 Disease Spondylometaphyseal dysplasia, Schmidt type MONDO C1866688 MONDO:0008478 184253 22 Apr 2020 Disease Spondylometaphyseal dysplasia, Sedaghatian type MONDO C1855229 MONDO:0009593 250220 22 Apr 2020 Disease Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome MONDO C1843706 MONDO:0011856 607543 17 Apr 2020 Disease Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome MONDO C1837073 MONDO:0012160 608940 17 Apr 2020 Disease Spondyloocular syndrome, autosomal recessive NCBI curation C4225412 605822 16 Feb 2016 Disease Spondyloperipheral dysplasia-short ulna syndrome MONDO C0796173 MONDO:0010078 271700 17 Apr 2020 Disease Spondylosis MONDO C0038019 MONDO:0002253 17 Apr 2020 Disease Spondylospinal thoracic dysostosis C1866184 601809 16 Feb 2016 Disease Spongiform encephalopathy with neuropsychiatric features NCBI curation C1847650 606688 16 Feb 2016 Disease Spongiotic dermatitis MONDO C0262984 MONDO:0002987 17 Apr 2020 Disease Spongy degeneration of central nervous system C0206307 271900 16 Feb 2016 Disease Spontaneous abortion Human Phenotype Ontology C0000786 HP:0005268 16 Feb 2016 Disease Spontaneous abortion MedGen UID:39 22 Jun 2020 Finding spontaneous Brugada pattern ECG 17 Oct 2019 Finding Spontaneous esophageal perforation Human Phenotype Ontology C0238115 HP:0005203 16 Feb 2016 Finding Spontaneous hematomas Human Phenotype Ontology C1697453 HP:0007420 16 Feb 2016 Finding Spontaneous hemolytic crises Human Phenotype Ontology C4025184 HP:0005525 16 Feb 2016 Finding Spontaneous intracranial hypotension MONDO C0751731 MONDO:0018624 17 Apr 2020 Disease Spontaneous neonatal pneumothorax Human Phenotype Ontology C1857021 HP:0004876 16 Feb 2016 Finding Spontaneous ocular nystagmus MONDO C0271384 MONDO:0001361 17 Apr 2020 Disease Spontaneous pain sensation Human Phenotype Ontology C4023690 HP:0010833 16 Feb 2016 Finding Spontaneous periodic hypothermia C2931542 16 Feb 2016 Disease Spontaneous pneumothorax Human Phenotype Ontology C0149781 HP:0002108 16 Feb 2016 Finding Spontaneous pneumothorax familial type 16 Feb 2016 Disease Spontaneous rupture of the globe Human Phenotype Ontology C4023719 HP:0010727 16 Feb 2016 Finding Spontaneous tension pneumothorax MONDO C0155907 MONDO:0002075 17 Apr 2020 Disease Spontaneous, recurrent epistaxis Human Phenotype Ontology C3809715 HP:0004406 16 Feb 2016 Finding sporadic abdominal aortic aneurysm CN220053 16 Feb 2016 Disease Sporadic adult-onset ataxia of unknown etiology MONDO C4518339 MONDO:0016591 17 Apr 2020 Disease Sporadic breast cancer MONDO C1336076 MONDO:0004438 17 Apr 2020 Disease Sporadic Creutzfeld Jacob disease MONDO CN281807 MONDO:0006518 04 Jun 2020 Infectious disease Sporadic fetal brain disruption sequence MONDO C4706553 MONDO:0015660 17 Apr 2020 Disease Sporadic hyperekplexia MONDO C5191042 MONDO:0017659 17 Apr 2020 Disease Sporadic idiopathic steroid-resistant nephrotic syndrome MONDO C4274017 MONDO:0019401 17 Apr 2020 Disease Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy MONDO MONDO:0019986 17 Apr 2020 Disease Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation MONDO MONDO:0019658 17 Apr 2020 Disease Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis MONDO MONDO:0019656 17 Apr 2020 Disease Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis MONDO MONDO:0019655 17 Apr 2020 Disease Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes MONDO MONDO:0019657 17 Apr 2020 Disease Sporadic infantile bilateral striatal necrosis MONDO C4087175 MONDO:0016394 17 Apr 2020 Disease sporadic NAFE 29 Jan 2020 Disease Sporadic pheochromocytoma MONDO CN202631 MONDO:0017191 17 Apr 2020 Disease Sporadic pheochromocytoma/secreting paraganglioma MONDO CN202630 MONDO:0017190 17 Apr 2020 Disease Sporadic secreting paraganglioma MONDO CN202632 MONDO:0017192 17 Apr 2020 Disease Sporotrichosis C0038034 16 Feb 2016 Infectious disease Spotted fever CN281674 16 Feb 2016 Infectious disease Spotty hyperpigmentation Human Phenotype Ontology C3806179 HP:0005585 16 Feb 2016 Finding Spotty hypopigmentation Human Phenotype Ontology C3806178 HP:0005590 16 Feb 2016 Finding Spranger Schinzel Myers syndrome 16 Feb 2016 Disease Sprinting performance NCBI curation C2319308 16 Feb 2016 Finding SPTBN1-related neurodevelopmental disease 19 Jul 2019 Finding SPTBN4-related neurodevelopmental disorder 21 May 2020 Disease Spurred humeral metaphysis Human Phenotype Ontology C4025505 HP:0003922 16 Feb 2016 Finding Spurred metaphyses of the upper limbs Human Phenotype Ontology C4025550 HP:0003855 16 Feb 2016 Finding Spurred radial metaphysis Human Phenotype Ontology C4025435 HP:0004025 16 Feb 2016 Finding Spurred ulnar metaphysis Human Phenotype Ontology C4025418 HP:0004046 16 Feb 2016 Finding Spurs of radial diaphysis Human Phenotype Ontology C4025433 HP:0004028 16 Feb 2016 Finding SQSTM1-related disorder 13 Oct 2017 Disease SQUALENE SYNTHASE DEFICIENCY OMIM C4748427 618156 618156 27 Oct 2018 Disease Squamous blepharitis MONDO C0155174 MONDO:0001813 17 Apr 2020 Disease Squamous carcinoma in situ MONDO C0334245 MONDO:0004693 17 Apr 2020 Disease Squamous cell breast carcinoma MONDO C1336079 MONDO:0006056 17 Apr 2020 Disease Squamous cell carcinoma Human Phenotype Ontology C0007137 HP:0002860 12 May 2017 Disease Squamous cell carcinoma of buccal mucosa MONDO C0280299 MONDO:0021431 17 Apr 2020 Disease Squamous cell carcinoma of colon MONDO C1333100 MONDO:0018513 17 Apr 2020 Disease Squamous cell carcinoma of floor of mouth MONDO C0280300 MONDO:0021429 17 Apr 2020 Disease Squamous cell carcinoma of gallbladder and extrahepatic biliary tract MONDO C4707898 MONDO:0018537 17 Apr 2020 Disease Squamous cell carcinoma of liver and intrahepatic biliary tract MONDO C4749400 MONDO:0018534 17 Apr 2020 Disease Squamous cell carcinoma of penis MONDO C0238348 MONDO:0018352 17 Apr 2020 Disease Squamous cell carcinoma of rectum MONDO C1335690 MONDO:0018515 17 Apr 2020 Disease Squamous cell carcinoma of the head and neck NCBI curation C1168401 275355 16 Feb 2016 Disease Squamous cell carcinoma of the oral tongue MONDO CN262101 MONDO:0018708 17 Apr 2020 Disease Squamous cell carcinoma of the skin Human Phenotype Ontology C0553723 HP:0006739 16 Feb 2016 Finding Squamous cell carcinoma of the tongue Human Phenotype Ontology C0349566 HP:0030413 16 Feb 2016 Finding Squamous cell carcinoma of the vulva Human Phenotype Ontology C0280856 HP:0030417 16 Feb 2016 Finding SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC C4016044 16 Feb 2016 Disease Squamous cell intraepithelial neoplasia MONDO C0333873 MONDO:0024475 17 Apr 2020 Disease Squamous cell lung carcinoma Human Phenotype Ontology C0149782 HP:0030359 04 Apr 2018 Disease Squamous cell neoplasm MONDO C0206720 MONDO:0002532 17 Apr 2020 Disease Squamous cell skin papilloma MONDO C0345983 MONDO:0004204 17 Apr 2020 Disease Squamous Papilloma Human Phenotype Ontology C0205874 HP:0031021 04 Apr 2018 Finding Squamous papillomatosis MONDO C1378340 MONDO:0004267 17 Apr 2020 Disease Square face Human Phenotype Ontology C1832127 HP:0000321 16 Feb 2016 Finding Square humeral metaphysis Human Phenotype Ontology C4025504 HP:0003923 16 Feb 2016 Finding Square pelvis bone Human Phenotype Ontology C1849953 HP:0003278 16 Feb 2016 Finding Square-wave jerks Human Phenotype Ontology C1843893 HP:0025402 04 Apr 2018 Finding Squared iliac bones Human Phenotype Ontology C1838186 HP:0003177 16 Feb 2016 Finding Squared superior portion of helix Human Phenotype Ontology C4022671 HP:0030026 16 Feb 2016 Finding Squared-off platyspondyly Human Phenotype Ontology C1849051 HP:0008418 16 Feb 2016 Finding SRTD + JBTS features 25 Jul 2019 Finding SRTD-like phenotype 25 Jul 2019 Finding SSR3-CDG MONDO MONDO:0300000 17 Apr 2020 Disease ST segment depression Human Phenotype Ontology C0520887 HP:0012250 16 Feb 2016 Finding ST segment elevation Human Phenotype Ontology C0520886 HP:0012251 16 Feb 2016 Finding ST-elevation myocardial infarction MONDO MONDO:0041656 17 Apr 2020 Disease St. Louis encephalitis MONDO C0014060 MONDO:0005969 04 Jun 2020 Infectious disease stable hydrocephalus 05 Sep 2019 Finding Staccato cry Human Phenotype Ontology C4476772 HP:0025431 04 Apr 2018 Finding Stachybotrys chartarum 16 Feb 2016 Disease STAG1-related disorder 27 Sep 2017 Disease STAG1-Related Disorders 11 Oct 2018 Disease STAG2-related disorder 04 May 2018 Disease Stage 1 chronic kidney disease Human Phenotype Ontology C2316401 HP:0012623 16 Feb 2016 Finding Stage 2 chronic kidney disease Human Phenotype Ontology C2316786 HP:0012624 16 Feb 2016 Finding Stage 3 chronic kidney disease Human Phenotype Ontology C2316787 HP:0012625 16 Feb 2016 Finding Stage 4 chronic kidney disease Human Phenotype Ontology C2317473 HP:0012626 16 Feb 2016 Finding Stage 5 chronic kidney disease Human Phenotype Ontology C2316810 HP:0003774 16 Feb 2016 Finding Stage I endometrioid carcinoma MONDO MONDO:0004961 17 Apr 2020 Disease stage I-IV, but not including stage 0 24 Feb 2020 Finding Stage II endometrioid carcinoma MONDO MONDO:0004962 17 Apr 2020 Disease Stage IV Non-Small Cell Lung Cancer NCBI curation C0278987 30 Dec 2016 Disease Stage IVb bladder cancer MONDO C1336362 MONDO:0004182 17 Apr 2020 Disease Stahl ear Human Phenotype Ontology C1862689 HP:0100015 16 Feb 2016 Finding Stalker Chitayat syndrome 16 Feb 2016 Disease Stampe sorensen syndrome 16 Feb 2016 Disease Stankiewicz-Isidor syndrome NCBI curation C4479599 617516 20 Jun 2017 Disease Stapes ankylosis Human Phenotype Ontology C1861326 HP:0000381 16 Feb 2016 Finding Stapes ankylosis with broad thumb and toes NCBI curation C1866656 184460 16 Feb 2016 Disease Staphylococcal food poisoning 16 Feb 2016 Disease Staphylococcal infection MONDO C0038160 MONDO:0024313 04 Jun 2020 Infectious disease Staphylococcal necrotizing pneumonia MONDO C4706659 MONDO:0018183 04 Jun 2020 Infectious disease Staphylococcal pneumonia MONDO C0032308 MONDO:0005970 04 Jun 2020 Infectious disease Staphylococcal scarlet fever MONDO CN265096 MONDO:0018180 04 Jun 2020 Infectious disease Staphylococcal toxemia MONDO C0854511 MONDO:0017592 04 Jun 2020 Infectious disease Staphylococcal toxic-shock syndrome MONDO C3714602 MONDO:0020545 22 Apr 2020 Infectious disease staphylococcus 05 Sep 2019 Finding Staphylococcus aureus infection MONDO C1318973 MONDO:0005545 04 Jun 2020 Infectious disease Staphylococcus aureus pneumonia MONDO C0857862 MONDO:0041879 04 Jun 2020 Infectious disease Staphyloenterotoxemia MONDO C0038159 MONDO:0005971 04 Jun 2020 Infectious disease Staphyloma posticum C0155360 16 Feb 2016 Finding Stargardt disease Orphanet C0271093 ORPHA827 27 Oct 2016 Disease Stargardt disease 1 NCBI curation C1855465 248200 16 Feb 2016 Disease Stargardt Disease 3 NCBI curation C1838644 600110 16 Feb 2016 Disease Stargardt disease 4 NCBI curation C1863534 603786 16 Feb 2016 Disease Stargardt Disease, Dominant CN239307 02 Dec 2016 Disease Stargardt Disease, Recessive CN239312 02 Dec 2016 Disease Stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic features MONDO C5193232 MONDO:0013055 612948 22 Apr 2020 Disease Staring gaze Human Phenotype Ontology C3809827 HP:0025401 04 Apr 2018 Finding staring spell 05 Sep 2019 Finding staring spells 18 Jan 2019 Finding Starry sky appearance on hepatic sonography Human Phenotype Ontology C4477004 HP:0031145 04 Apr 2018 Finding Startle epilepsy MONDO C4706527 MONDO:0015648 17 Apr 2020 Disease startle myoclonus 05 Sep 2019 Finding STAT1-Related Disorder 13 Oct 2017 Disease STAT3 gain of function NCBI curation C4288261 26 Dec 2017 Finding STAT5B-related growth hormone insensitivity syndrome 21 May 2020 Disease static encephalopathy 05 Sep 2019 Disease Static ophthalmoparesis Human Phenotype Ontology C4024663 HP:0008507 16 Feb 2016 Finding Statin causing adverse effect in therapeutic use NCBI curation CN181223 16 Feb 2016 Pharmacological response Statin-induced myopathy NCBI curation CN181199 16 Feb 2016 Pharmacological response Statins, attenuated cholesterol lowering by NCBI curation C1840531 16 Feb 2016 Disease Stature as a quantitative trait NCBI curation C1853477 606255 24 Aug 2016 Disease Stature quantitative trait locus 10 NCBI curation C2677152 612221 16 Feb 2016 Disease Stature quantitative trait locus 11 NCBI curation C2677134 612223 16 Feb 2016 Disease Stature quantitative trait locus 12 NCBI curation C2677133 612224 16 Feb 2016 Disease Stature quantitative trait locus 13 NCBI curation C2677131 612226 16 Feb 2016 Disease Stature quantitative trait locus 14 NCBI curation C2677124 612228 16 Feb 2016 Disease Stature quantitative trait locus 15 NCBI curation C2675490 612578 16 Feb 2016 Disease Stature quantitative trait locus 16 NCBI curation C2675489 612579 16 Feb 2016 Disease Stature quantitative trait locus 17 NCBI curation C2674783 612737 16 Feb 2016 Disease Stature quantitative trait locus 18 NCBI curation C2752065 612892 16 Feb 2016 Disease Stature quantitative trait locus 19 NCBI curation C2752064 612893 16 Feb 2016 Disease Stature quantitative trait locus 2 NCBI curation C1853476 606256 16 Feb 2016 Disease Stature quantitative trait locus 20 NCBI curation C2752063 612894 16 Feb 2016 Disease Stature quantitative trait locus 21 NCBI curation C3150694 613440 16 Feb 2016 Disease Stature quantitative trait locus 22 NCBI curation C3150793 613547 16 Feb 2016 Disease Stature quantitative trait locus 23 NCBI curation C3150794 613548 16 Feb 2016 Disease Stature quantitative trait locus 24 NCBI curation C3150795 613549 16 Feb 2016 Disease Stature quantitative trait locus 3 NCBI curation C1853475 606257 16 Feb 2016 Disease Stature quantitative trait locus 4 NCBI curation C1853474 606258 16 Feb 2016 Disease Stature quantitative trait locus 5 NCBI curation C1837024 608982 16 Feb 2016 Disease Stature quantitative trait locus 6 NCBI curation C1845115 300591 16 Feb 2016 Disease Stature quantitative trait locus 7 NCBI curation C1853277 609822 16 Feb 2016 Disease Stature quantitative trait locus 8 NCBI curation C1864691 610114 16 Feb 2016 Disease Stature quantitative trait locus 9 NCBI curation C1969061 611547 16 Feb 2016 Disease Status asthmaticus Human Phenotype Ontology C0038218 HP:0012653 02 Apr 2017 Finding Status cribrosum Human Phenotype Ontology C4293701 HP:0025012 02 Apr 2017 Finding Status epilepticus Human Phenotype Ontology C0038220 HP:0002133 16 Feb 2016 Finding Status epileptus CN234399 16 Feb 2016 Finding Steatitis MONDO C0038235 MONDO:0006979 17 Apr 2020 Disease Steatocystoma multiplex Human Phenotype Ontology C0259771 HP:0012035 184500 16 Feb 2016 Disease Steatocystoma multiplex-natal teeth syndrome MONDO C1866650 MONDO:0008486 184510 17 Apr 2020 Disease Steatorrhea Human Phenotype Ontology C0038238 HP:0002570 16 Feb 2016 Finding Steatorrhea (disease) MONDO MONDO:0001075 17 Apr 2020 Disease Steel syndrome NCBI curation C3554594 615155 16 Feb 2016 Disease Steele-Richardson-Olszewski syndrome, atypical NCBI curation 16 Feb 2016 Disease Steep acetabular roof Human Phenotype Ontology C3150931 HP:0010455 16 Feb 2016 Finding Steinberg sign 02 Mar 2020 Finding Steinert myotonic dystrophy syndrome C3250443 160900 16 Feb 2016 Disease Stellate iris Human Phenotype Ontology C4022727 HP:0012775 16 Feb 2016 Finding stenogyria microgyria in the posterior and medial occipital cortex CN238712 19 Oct 2016 Finding Stenosis of lacrimal passage MONDO MONDO:0001768 17 Apr 2020 Disease Stenosis of lacrimal punctum MONDO C0155244 MONDO:0001767 17 Apr 2020 Disease Stenosis of lacrimal sac MONDO C0155246 MONDO:0002511 17 Apr 2020 Disease Stenosis of the Eustachian tube Human Phenotype Ontology C0271469 HP:0040118 16 Feb 2016 Finding Stenosis of the external auditory canal Human Phenotype Ontology C0395837 HP:0000402 16 Feb 2016 Finding Stenosis of the medullary cavity of the long bones Human Phenotype Ontology C4022179 HP:0100254 16 Feb 2016 Finding Stenosis or atrophy of the coronary ostium MONDO CN258537 MONDO:0020423 17 Apr 2020 Disease Stenotrophomonas maltophilia 16 Feb 2016 Disease Steppage gait Human Phenotype Ontology C0427149 HP:0003376 16 Feb 2016 Finding Stercoral ulcer Human Phenotype Ontology C0333302 HP:0012425 16 Feb 2016 Finding stereotyped movement disorder 05 Sep 2019 Finding Stereotypic hand movements 23 Jan 2020 Finding Stereotypic movement disorder MONDO MONDO:0002265 17 Apr 2020 Disease stereotypic movements 18 Jan 2019 Finding Stereotypical body rocking Human Phenotype Ontology C4023013 HP:0012172 16 Feb 2016 Finding Stereotypical hand wringing Human Phenotype Ontology C4023014 HP:0012171 16 Feb 2016 Finding stereotypies 05 Sep 2019 Finding Stereotypy Human Phenotype Ontology C0038273 HP:0000733 02 Apr 2017 Finding Sterile arthritis Human Phenotype Ontology C4477044 HP:0040310 04 Apr 2018 Finding Sterility due to immotile flagella CN073888 16 Feb 2016 Disease Stern Lubinsky Durrie syndrome 16 Feb 2016 Disease Sternal cleft C2931507 16 Feb 2016 Disease Sternal cyst vascular anomalies 16 Feb 2016 Disease Sternal malformation vascular dysplasia associatio 16 Feb 2016 Disease Sternal neoplasm MONDO C1290244 MONDO:0021578 17 Apr 2020 Disease Sternal punctate calcifications Human Phenotype Ontology C1859121 HP:0006637 16 Feb 2016 Finding Sternocleidomastoid amyotrophy Human Phenotype Ontology C4023067 HP:0012036 16 Feb 2016 Finding Sternum cancer MONDO C1382025 MONDO:0003273 17 Apr 2020 Disease Sternum curvature 30 Jul 2019 Finding Sternum lymphoma MONDO C1336504 MONDO:0003988 17 Apr 2020 Disease Sternum, premature obliteration of sutures of NCBI curation C1861485 184800 16 Feb 2016 Disease STEROID 5-ALPHA-REDUCTASE POLYMORPHISM 16 Feb 2016 Disease Steroid dehydrogenase deficiency-dental anomalies syndrome MONDO C2931508 MONDO:0017904 17 Apr 2020 Disease Steroid inherited metabolic disorder MONDO C1257809 MONDO:0005523 17 Apr 2020 Disease Steroid lipomatosis MONDO C1336506 MONDO:0006612 17 Apr 2020 Disease Steroid metabolism disease MONDO C0268283 MONDO:0045012 17 Apr 2020 Disease Steroid-induced glaucoma MONDO C0339578 MONDO:0004930 17 Apr 2020 Disease Steroid-induced glaucoma - borderline MONDO C0339572 MONDO:0001996 17 Apr 2020 Disease Steroid-resistant nephrotic syndrome Human Phenotype Ontology C0403397 HP:0012588 16 Feb 2016 Finding Steroid-responsive encephalopathy associated with autoimmune thyroiditis MONDO CN281846 MONDO:0019385 17 Apr 2020 Infectious disease Sterol biosynthesis disorder MONDO CN227602 MONDO:0019240 17 Apr 2020 Disease Sterol metabolism disorder MONDO CN227607 MONDO:0019256 17 Apr 2020 Disease Sterol metabolism disorder with epilepsy MONDO CN226918 MONDO:0016405 17 Apr 2020 Disease Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome MONDO CN258651 MONDO:0044739 17 Apr 2020 Disease Stevenson-Carey syndrome NCBI curation C2677763 611961 16 Feb 2016 Disease Stewart Treves syndrome 16 Feb 2016 Disease Stickler syndrome OMIM phenotypic series C0265253 PS108300 16 Feb 2016 Disease Stickler syndrome type 1 C2020284 108300 16 Feb 2016 Disease Stickler syndrome type 2 MONDO C1858084 MONDO:0011493 604841 22 Apr 2020 Disease Stickler Syndrome, Dominant CN239460 02 Dec 2016 Disease Stickler Syndrome, Recessive CN239473 02 Dec 2016 Disease Stickler syndrome, type 4 NCBI curation C3279941 614134 16 Feb 2016 Disease Stickler syndrome, type 5 NCBI curation C3280342 614284 16 Feb 2016 Disease Stickler syndrome, type I, nonsyndromic ocular NCBI curation C1836080 609508 27 Aug 2018 Disease Stiff ankle Human Phenotype Ontology C0427032 HP:0025264 02 Apr 2017 Finding Stiff elbow Human Phenotype Ontology C0239272 HP:0025259 02 Apr 2017 Finding Stiff finger Human Phenotype Ontology C0239596 HP:0025261 02 Apr 2017 Finding Stiff hip Human Phenotype Ontology C0239957 HP:0025262 02 Apr 2017 Finding Stiff interphalangeal joints Human Phenotype Ontology C4025237 HP:0005198 16 Feb 2016 Finding Stiff knee Human Phenotype Ontology C0240129 HP:0025263 02 Apr 2017 Finding Stiff neck Human Phenotype Ontology C0151315 HP:0025258 02 Apr 2017 Finding Stiff shoulders Human Phenotype Ontology C0241042 HP:0009742 16 Feb 2016 Finding Stiff skin Human Phenotype Ontology C3276815 HP:0030053 16 Feb 2016 Finding Stiff skin syndrome C1861456 184900 16 Feb 2016 Disease Stiff toe Human Phenotype Ontology C1660792 HP:0025265 02 Apr 2017 Finding Stiff tongue Human Phenotype Ontology C4531171 HP:0031373 04 Apr 2018 Finding Stiff wrist Human Phenotype Ontology C0241759 HP:0025260 02 Apr 2017 Finding Stiff-man syndrome C0085292 184850 16 Feb 2016 Disease Stillbirth Human Phenotype Ontology C0595939 HP:0003826 16 Feb 2016 Finding Stimmler syndrome MONDO C1859965 MONDO:0008743 202900 17 Apr 2020 Disease Sting-associated vasculopathy, infantile-onset NCBI curation C4014722 615934 16 Feb 2016 Disease Stippled calcification in carpal bones Human Phenotype Ontology C1844846 HP:0004241 16 Feb 2016 Finding Stippled calcification of hand bones Human Phenotype Ontology C4025365 HP:0004291 16 Feb 2016 Finding Stippled calcification of humeral metaphysis Human Phenotype Ontology C4025503 HP:0003924 16 Feb 2016 Finding Stippled calcification of the elbow Human Phenotype Ontology C4025493 HP:0003941 16 Feb 2016 Finding Stippled calcification of the humeral epiphyses Human Phenotype Ontology C4025519 HP:0003901 16 Feb 2016 Finding Stippled calcification of the shoulder Human Phenotype Ontology C4025562 HP:0003836 16 Feb 2016 Finding Stippled calcification proximal humeral epiphyses Human Phenotype Ontology C1857243 HP:0008838 16 Feb 2016 Finding Stippled chondral calcification Human Phenotype Ontology C4025679 HP:0002764 16 Feb 2016 Finding Stippling of the epiphyses of the 2nd finger Human Phenotype Ontology C4024329 HP:0009497 16 Feb 2016 Finding Stippling of the epiphyses of the 2nd toe Human Phenotype Ontology C4022368 HP:0100053 16 Feb 2016 Finding Stippling of the epiphyses of the 3rd finger Human Phenotype Ontology C4024375 HP:0009419 16 Feb 2016 Finding Stippling of the epiphyses of the 3rd toe Human Phenotype Ontology C4022357 HP:0100064 16 Feb 2016 Finding Stippling of the epiphyses of the 4th finger Human Phenotype Ontology C4024388 HP:0009402 16 Feb 2016 Finding Stippling of the epiphyses of the 4th toe Human Phenotype Ontology C4022346 HP:0100075 16 Feb 2016 Finding Stippling of the epiphyses of the 5th finger Human Phenotype Ontology C4024398 HP:0009391 16 Feb 2016 Finding Stippling of the epiphyses of the 5th toe Human Phenotype Ontology C4022335 HP:0100086 16 Feb 2016 Finding Stippling of the epiphyses of the distal phalanges of the hand Human Phenotype Ontology C4023945 HP:0010255 16 Feb 2016 Finding Stippling of the epiphyses of the hallux Human Phenotype Ontology C4024037 HP:0010122 16 Feb 2016 Finding Stippling of the epiphyses of the middle phalanges of the hand Human Phenotype Ontology C4023935 HP:0010266 16 Feb 2016 Finding Stippling of the epiphyses of the proximal phalanges of the hand Human Phenotype Ontology C4023924 HP:0010277 16 Feb 2016 Finding Stippling of the epiphysis of the 1st metatarsal Human Phenotype Ontology C4024001 HP:0010158 16 Feb 2016 Finding Stippling of the epiphysis of the distal phalanx of the 2nd finger Human Phenotype Ontology C4024320 HP:0009511 16 Feb 2016 Finding Stippling of the epiphysis of the distal phalanx of the 2nd toe Human Phenotype Ontology C4022312 HP:0100109 16 Feb 2016 Finding Stippling of the epiphysis of the distal phalanx of the 3rd finger Human Phenotype Ontology C4024423 HP:0009344 16 Feb 2016 Finding Stippling of the epiphysis of the distal phalanx of the 3rd toe Human Phenotype Ontology C4022277 HP:0100144 16 Feb 2016 Finding Stippling of the epiphysis of the distal phalanx of the 4th finger Human Phenotype Ontology C4024488 HP:0009259 16 Feb 2016 Finding Stippling of the epiphysis of the distal phalanx of the 4th toe Human Phenotype Ontology C4022243 HP:0100178 16 Feb 2016 Finding Stippling of the epiphysis of the distal phalanx of the 5th finger Human Phenotype Ontology C4024563 HP:0009165 16 Feb 2016 Finding Stippling of the epiphysis of the distal phalanx of the 5th toe Human Phenotype Ontology C4022210 HP:0100211 16 Feb 2016 Finding Stippling of the epiphysis of the distal phalanx of the hallux Human Phenotype Ontology C4024012 HP:0010147 16 Feb 2016 Finding Stippling of the epiphysis of the distal phalanx of the thumb Human Phenotype Ontology C4024235 HP:0009684 16 Feb 2016 Finding Stippling of the epiphysis of the middle phalanx of the 2nd finger Human Phenotype Ontology C4024311 HP:0009522 16 Feb 2016 Finding Stippling of the epiphysis of the middle phalanx of the 2nd toe Human Phenotype Ontology C4022301 HP:0100120 16 Feb 2016 Finding Stippling of the epiphysis of the middle phalanx of the 3rd finger Human Phenotype Ontology C4024436 HP:0009330 16 Feb 2016 Finding Stippling of the epiphysis of the middle phalanx of the 3rd toe Human Phenotype Ontology C4022266 HP:0100155 16 Feb 2016 Finding Stippling of the epiphysis of the middle phalanx of the 4th finger Human Phenotype Ontology C4024518 HP:0009223 16 Feb 2016 Finding Stippling of the epiphysis of the middle phalanx of the 4th toe Human Phenotype Ontology C4022232 HP:0100189 16 Feb 2016 Finding Stippling of the epiphysis of the middle phalanx of the 5th finger Human Phenotype Ontology C4024528 HP:0009212 16 Feb 2016 Finding Stippling of the epiphysis of the middle phalanx of the 5th toe Human Phenotype Ontology C4022199 HP:0100222 16 Feb 2016 Finding Stippling of the epiphysis of the proximal phalanx of the 2nd finger Human Phenotype Ontology C4024303 HP:0009533 16 Feb 2016 Finding Stippling of the epiphysis of the proximal phalanx of the 2nd toe Human Phenotype Ontology C4022290 HP:0100131 16 Feb 2016 Finding Stippling of the epiphysis of the proximal phalanx of the 3rd finger Human Phenotype Ontology C4024414 HP:0009355 16 Feb 2016 Finding Stippling of the epiphysis of the proximal phalanx of the 3rd toe Human Phenotype Ontology C4022255 HP:0100166 16 Feb 2016 Finding Stippling of the epiphysis of the proximal phalanx of the 4th finger Human Phenotype Ontology C4024479 HP:0009270 16 Feb 2016 Finding Stippling of the epiphysis of the proximal phalanx of the 4th toe Human Phenotype Ontology C4022221 HP:0100200 16 Feb 2016 Finding Stippling of the epiphysis of the proximal phalanx of the 5th finger Human Phenotype Ontology C4024539 HP:0009201 16 Feb 2016 Finding Stippling of the epiphysis of the proximal phalanx of the 5th toe Human Phenotype Ontology C4022188 HP:0100233 16 Feb 2016 Finding Stippling of the epiphysis of the proximal phalanx of the hallux Human Phenotype Ontology C4024023 HP:0010136 16 Feb 2016 Finding Stippling of the epiphysis of the proximal phalanx of the thumb Human Phenotype Ontology C4024244 HP:0009673 16 Feb 2016 Finding Stippling of thumb epiphysis Human Phenotype Ontology C4021401 HP:0009695 16 Feb 2016 Finding Stoelinga de Koomen Davis syndrome 16 Feb 2016 Disease Stoll alembik finck syndrome 16 Feb 2016 Disease Stoll geraudel chauvin syndrome 16 Feb 2016 Disease Stoll kieny dott syndrome 16 Feb 2016 Disease Stomach cancer Human Phenotype Ontology C0699791 HP:0012126 16 Feb 2016 Finding Stomach cancer, childhood 16 Feb 2016 Disease Stomach cancer, familial CN036072 16 Feb 2016 Disease Stomach carcinoma 16 Feb 2016 Disease Stomach carcinoma in situ MONDO C0154060 MONDO:0004716 17 Apr 2020 Disease Stomach disease MONDO C0038354 MONDO:0004298 17 Apr 2020 Disease Stomach diverticulosis MONDO C1148546 MONDO:0002976 17 Apr 2020 Disease Stomach GIST CN230010 16 Feb 2016 Finding Stomach Neoplasms PharmGKB CN236630 18 May 2016 Disease Stomach polyp MONDO MONDO:0008277 17 Apr 2020 Disease Stomatin-deficient cryohydrocytosis with neurologic defects NCBI curation C1837206 608885 24 Aug 2016 Disease Stomatin-like protein-2, hyperphosphorylation of NCBI curation C3554539 615121 16 Feb 2016 Disease Stomatitis Human Phenotype Ontology C0038362 HP:0010280 16 Feb 2016 Finding Stomatocytosis Human Phenotype Ontology C0677598 HP:0004446 16 Feb 2016 Finding Stone in bladder diverticulum MONDO C0156265 MONDO:0001270 17 Apr 2020 Disease Stooped posture Human Phenotype Ontology C4476759 HP:0025403 04 Apr 2018 Finding Storage cells in bone marrow suggestive of Gaucher Disease CN236799 24 Jun 2016 Finding Storage in hepatocytes Human Phenotype Ontology C4476996 HP:0031137 04 Apr 2018 Finding Storage pool disease of platelets C0032197 185050 16 Feb 2016 Disease Storm syndrome C1861452 185069 16 Feb 2016 Disease Stormorken syndrome NCBI curation C1861451 185070 16 Feb 2016 Disease STRA6-Related Disorder 13 Oct 2017 Disease Strabismic Amblyopia C0750903 18 Jan 2019 Finding Strabismus Human Phenotype Ontology C0038379 HP:0000486 16 Feb 2016 Finding strabismus and ataxia, with loss of motor milestones CN235371 02 Mar 2016 Finding Strabismus and nistagmus 30 Nov 2018 Finding Straddling and/or overriding mitral valve MONDO CN227867 MONDO:0020405 17 Apr 2020 Disease Straddling atrioventricular valve Human Phenotype Ontology C4023297 HP:0011562 16 Feb 2016 Finding Straddling or overriding tricuspid valve MONDO CN227694 MONDO:0019814 17 Apr 2020 Disease straight back nose 22 Aug 2019 Finding straight back nose and wide with tip down 22 Aug 2019 Finding Straight clavicles Human Phenotype Ontology C4025016 HP:0006587 16 Feb 2016 Finding straight eyebrows with synofris 22 Aug 2019 Finding straight nasal bridge and bulbous tip 22 Aug 2019 Finding Stratton garcia young syndrome 16 Feb 2016 Disease Stratton-Parker syndrome NCBI curation C1861448 185120 16 Feb 2016 Disease Strawberry tongue Human Phenotype Ontology C0241262 HP:0031042 04 Apr 2018 Finding Streak ovary Human Phenotype Ontology C0266371 HP:0010464 16 Feb 2016 Finding Streaks of hyperkeratosis along each finger onto the palm Human Phenotype Ontology C4024861 HP:0007501 16 Feb 2016 Finding Streaky metaphyseal sclerosis Human Phenotype Ontology C4025253 HP:0005092 16 Feb 2016 Finding Streblodactyly NCBI curation 16 Feb 2016 Disease Streptobacillary rat-bite fever MONDO C0152063 MONDO:0020533 04 Jun 2020 Infectious disease Streptobacillus infectious disease MONDO C0947939 MONDO:0001667 04 Jun 2020 Infectious disease Streptococcal Group A invasive disease 16 Feb 2016 Disease Streptococcal Group B invasive disease 16 Feb 2016 Disease Streptococcal infection MONDO C0038395 MONDO:0021680 04 Jun 2020 Infectious disease Streptococcal meningitis MONDO C0154639 MONDO:0001316 04 Jun 2020 Infectious disease Streptococcal pneumonia MONDO C0155862 MONDO:0005972 04 Jun 2020 Infectious disease Streptococcal sore throat MONDO C0036689 MONDO:0021783 04 Jun 2020 Infectious disease Streptococcal toxic-shock syndrome MONDO C0343532 MONDO:0020544 04 Jun 2020 Infectious disease streptococcus 05 Sep 2019 Finding Streptococcus, group a, severity of infection by NCBI curation C1846298 607395 16 Feb 2016 Disease Streptomycin response NCBI curation C1154708 16 Feb 2016 Pharmacological response streptomycin response - Toxicity/ADR PharmGKB 1444699743PA451512 06 Jul 2018 Pharmacological response Stress polycythemia 16 Feb 2016 Disease Stress urinary incontinence Human Phenotype Ontology C0042025 HP:0010992 16 Feb 2016 Finding Stress/infection-induced lactic acidosis Human Phenotype Ontology C4025278 HP:0004897 16 Feb 2016 Finding Striae distensae Human Phenotype Ontology C0152459 HP:0001065 16 Feb 2016 Finding Striae distensae, familial NCBI curation C1861447 185200 16 Feb 2016 Disease striae on the back 05 Sep 2018 Finding striae on the skin 05 Sep 2018 Finding Striatal Degeneration CN239279 02 Dec 2016 Disease Striatal degeneration, autosomal dominant 1 NCBI curation C4310808 609161 01 Jul 2017 Disease Striatal degeneration, autosomal dominant 2 NCBI curation C4310791 616922 26 May 2016 Disease Striatal necrosis, bilateral, and progressive polyneuropathy NCBI curation C3150973 613710 16 Feb 2016 Disease Striatal necrosis, bilateral, with dystonia NCBI curation C1838954 16 Feb 2016 Disease Striatal T2 hyperintensity Human Phenotype Ontology C4531279 HP:0031206 04 Apr 2018 Finding Striate palmoplantar keratoderma MONDO C4707237 MONDO:0018865 17 Apr 2020 Disease Striated muscle rhabdoid tumor MONDO MONDO:0000539 17 Apr 2020 Disease Striatonigral degeneration OMIM phenotypic series C0270733 PS271930 30 Jan 2020 Disease Striatonigral degeneration infantile C0795996 271930 16 Feb 2016 Disease Striatonigral degeneration, childhood-onset NCBI curation C4310743 617054 24 Aug 2016 Disease Striatonigral degeneration, infantile, mitochondrial NCBI curation C1839022 500003 16 Feb 2016 Disease Strictly posterior acute myocardial infarction MONDO MONDO:0004780 17 Apr 2020 Disease Stricture or kinking of ureter MONDO MONDO:0002674 17 Apr 2020 Disease Stridor Human Phenotype Ontology C0038450 HP:0010307 16 Feb 2016 Finding Stridor, congenital NCBI curation C0858233 16 Feb 2016 Disease Strightening of arcades CN232375 16 Feb 2016 Finding Stroke PharmGKB C0038454 18 May 2016 Disease Stroke Human Phenotype Ontology C0038454 HP:0001297 18 May 2016 Disease Stroke 1 NCBI curation C1847482 606799 16 Feb 2016 Disease Stroke disorder MONDO MONDO:0005098 17 Apr 2020 Disease Stroke, hemorrhagic, susceptibility to NCBI curation 16 Feb 2016 Disease STROKE, ISCHEMIC, SUSCEPTIBILITY TO C1856857 09 Jan 2018 Disease Stroke-like episode Human Phenotype Ontology C1857287 HP:0002401 04 Apr 2018 Finding Stroma-dominant and stroma-poor composite ganglioneuroblastoma MONDO C1516761 MONDO:0004407 17 Apr 2020 Disease Stromal corneal dystrophy MONDO C0038457 MONDO:0020213 17 Apr 2020 Disease Stromal corneal pigmentation MONDO C0155105 MONDO:0006613 17 Apr 2020 Disease Stromal keratitis MONDO C1318020 MONDO:0015291 04 Jun 2020 Infectious disease Stromal predominant kidney Wilms tumor MONDO C0279610 MONDO:0006432 17 Apr 2020 Disease Stromal sarcoma MONDO C1370723 MONDO:0044337 17 Apr 2020 Disease Stromme syndrome NCBI curation C1855705 243605 24 Aug 2016 Disease Strongylida infectious disease MONDO CN281802 MONDO:0005973 04 Jun 2020 Infectious disease Structural brain abnormalities C1866933 16 Feb 2016 Disease structural brain abnormality 05 Sep 2019 Finding STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS OMIM C5231485 618736 618736 16 Jan 2020 Disease Structural epilepsy MONDO MONDO:0100035 17 Apr 2020 Disease Structural foot deformity Human Phenotype Ontology C4023965 HP:0010219 16 Feb 2016 Finding Structural heart defects and renal anomalies syndrome NCBI curation C4479549 617478 20 Jun 2017 Disease Struma ovarii MONDO C0038478 MONDO:0006980 17 Apr 2020 Disease Struvite nephrolithiasis Human Phenotype Ontology C4021056 HP:0030035 16 Feb 2016 Finding Stuart factor deficiency, congenital 16 Feb 2016 Disease Sturge-Weber syndrome C0038505 185300 16 Feb 2016 Disease Stuttering Human Phenotype Ontology C0038506 HP:0025268 02 Apr 2017 Finding Stuttering, familial persistent OMIM phenotypic series C0038131 PS184450 17 Jan 2017 Disease Stuttering, familial persistent 1 NCBI curation C3489627 184450 16 Feb 2016 Disease Stuttering, familial persistent 2 NCBI curation C1836484 609261 16 Feb 2016 Disease Stuttering, familial persistent, 3 NCBI curation C3553381 614655 16 Feb 2016 Disease Stuttering, familial persistent, 4 NCBI curation C3553403 614668 16 Feb 2016 Disease STXBP1-associated neurodevelopmental disorder 06 Feb 2018 Disease Stüve-Wiedemann syndrome MONDO C0796176 MONDO:0011108 601559 17 Apr 2020 Disease Sub-cortical nodular heterotopia MONDO CN226595 MONDO:0015093 17 Apr 2020 Disease Sub-RPE deposits Human Phenotype Ontology C4531064 HP:0031531 04 Apr 2018 Finding Subacute bacterial endocarditis MONDO C0014122 MONDO:0006981 04 Jun 2020 Infectious disease Subacute bursitis MONDO C1290159 MONDO:0040698 17 Apr 2020 Disease Subacute cutaneous lupus erythematosus MONDO C0024140 MONDO:0015573 17 Apr 2020 Disease Subacute delirium MONDO C0154333 MONDO:0004629 17 Apr 2020 Disease Subacute glomerulonephritis MONDO C1263744 MONDO:0003138 17 Apr 2020 Disease Subacute inflammatory demyelinating polyneuropathy MONDO C0456517 MONDO:0016102 17 Apr 2020 Disease Subacute leukemia MONDO C0153924 MONDO:0002582 17 Apr 2020 Disease Subacute lymphocytic thyroiditis MONDO C1306804 MONDO:0004135 17 Apr 2020 Disease Subacute lymphoid leukemia NCBI curation C0152271 02 Mar 2017 Disease Subacute monocytic leukemia MONDO C0152275 MONDO:0004644 17 Apr 2020 Disease Subacute neuronopathic Gaucher's disease C0268251 231000 16 Feb 2016 Disease Subacute progressive viral hepatitis Human Phenotype Ontology C1861901 HP:0006572 16 Feb 2016 Finding Subacute sclerosing panencephalitis C0038522 260470 16 Feb 2016 Disease Subacute thyroiditis MONDO C0040149 MONDO:0006982 17 Apr 2020 Disease Subaortic course of innominate vein MONDO C4707821 MONDO:0020444 17 Apr 2020 Disease Subaortic stenosis, membranous NCBI curation C1848979 271950 16 Feb 2016 Disease Subaortic stenosis-short stature syndrome MONDO C0795947 MONDO:0010082 271960 22 Apr 2020 Disease Subarachnoid hemorrhage Human Phenotype Ontology C0038525 HP:0002138 16 Feb 2016 Finding Subareolar duct papillomatosis MONDO MONDO:0004268 17 Apr 2020 Disease Subarterial ventricular septal defect Human Phenotype Ontology C3165130 HP:0011681 16 Feb 2016 Finding Subcapsular cataract Human Phenotype Ontology C0235259 HP:0000523 16 Feb 2016 Finding Subchorionic septal cyst Human Phenotype Ontology C4280801 HP:0030720 02 Apr 2017 Finding Subchorionic thrombohematoma Human Phenotype Ontology C1390676 HP:0030714 02 Apr 2017 Finding Subclavian artery aneurysm MONDO C0155746 MONDO:0002641 17 Apr 2020 Disease Subclavian steal syndrome MONDO C0038531 MONDO:0006983 17 Apr 2020 Disease subclinical axonal motor neuropathy CN196730 16 Feb 2016 Finding Subclinical hypothyreosis 12 Sep 2019 Finding Subconjunctival hemorrhage Human Phenotype Ontology C0038534 HP:0011896 16 Feb 2016 Finding Subcorneal pustular dermatosis MONDO C0600336 MONDO:0006614 17 Apr 2020 Disease Subcortical band heterotopia NCBI curation C1848201 16 Feb 2016 Disease SUBCORTICAL BAND HETEROTOPIA, X-LINKED 16 Feb 2016 Disease Subcortical cerebral atrophy Human Phenotype Ontology C4023018 HP:0012157 16 Feb 2016 Finding Subcortical dementia Human Phenotype Ontology C4024935 HP:0007123 16 Feb 2016 Finding Subcortical laminal heterotopia, X-linked CN260100 20 Jun 2019 Disease Subcortical laminar heterotopia, X-linked NCBI curation C1848070 16 Feb 2016 Disease Subcortical white matter calcifications Human Phenotype Ontology C1851430 HP:0007346 16 Feb 2016 Finding Subcutaneous calcification Human Phenotype Ontology C0263625 HP:0007618 16 Feb 2016 Finding Subcutaneous hemorrhage Human Phenotype Ontology C0854107 HP:0001933 16 Feb 2016 Finding Subcutaneous lipoma Human Phenotype Ontology C1403035 HP:0001031 16 Feb 2016 Finding Subcutaneous mycosis MONDO C5230306 MONDO:0000255 04 Jun 2020 Infectious disease Subcutaneous neurofibromas Human Phenotype Ontology C1827970 HP:0100698 16 Feb 2016 Finding Subcutaneous nodule Human Phenotype Ontology C0151811 HP:0001482 16 Feb 2016 Finding subcutaneous nodules on face, conjunctiva, tongue and limbs, and periarticular area 13 Feb 2020 Finding Subcutaneous panniculitis-like T-cell lymphoma C0522624 618398 16 Feb 2016 Disease Subcutaneous spheroids Human Phenotype Ontology C4293700 HP:0025014 02 Apr 2017 Finding Subcutaneous tissue disease MONDO C1290008 MONDO:0019296 17 Apr 2020 Disease Subcutaneous venous lacunae 12 Jun 2020 Disease Subdural empyema MONDO C0038539 MONDO:0006984 04 Jun 2020 Infectious disease Subdural hemorrhage Human Phenotype Ontology C0018946 HP:0100309 16 Feb 2016 Finding Subendocardial myocardial infarction MONDO C0262568 MONDO:0003674 17 Apr 2020 Disease Subependymal cysts Human Phenotype Ontology C1833431 HP:0002416 16 Feb 2016 Finding Subependymal giant cell astrocytoma 16 Feb 2016 Disease Subependymal giant-cell astrocytoma Human Phenotype Ontology C0205768 HP:0009718 16 Feb 2016 Finding Subependymal glioma C0206725 16 Feb 2016 Disease Subependymal nodular heterotopia C3160906 16 Feb 2016 Disease Subependymal nodules Human Phenotype Ontology C1968958 HP:0009716 16 Feb 2016 Finding Subepithelial corneal opacities Human Phenotype Ontology C1857307 HP:0008039 16 Feb 2016 Finding Subfoveal choroidal neovascularization Human Phenotype Ontology C4531251 HP:0031241 04 Apr 2018 Finding Subglottic hemangioma MONDO C1336518 MONDO:0003115 17 Apr 2020 Disease Subglottic stenosis Human Phenotype Ontology C0238441 HP:0001607 16 Feb 2016 Finding Subglottis cancer MONDO C0153485 MONDO:0001293 17 Apr 2020 Disease Subglottis carcinoma MONDO C1299239 MONDO:0004358 17 Apr 2020 Disease Subglottis neoplasm MONDO C0345746 MONDO:0000933 17 Apr 2020 Disease Subglottis squamous cell carcinoma MONDO C0280326 MONDO:0004291 17 Apr 2020 Disease Subglottis verrucous carcinoma MONDO C0280330 MONDO:0004290 17 Apr 2020 Disease Subhyaloid hemorrhage Human Phenotype Ontology C0271048 HP:0025239 02 Apr 2017 Finding Sublingual gland adenoid cystic carcinoma MONDO MONDO:0000545 17 Apr 2020 Disease Sublingual gland cancer MONDO C0153361 MONDO:0004667 17 Apr 2020 Disease Sublingual gland carcinoma MONDO C0345611 MONDO:0021070 17 Apr 2020 Disease Sublingual gland neoplasm MONDO C0038554 MONDO:0021242 17 Apr 2020 Disease Sublingual nitroglycerin, susceptibility to poor response to NCBI curation C2676227 16 Feb 2016 Disease Subluxation of metacarpal phalangeal joints Human Phenotype Ontology C4025363 HP:0004294 16 Feb 2016 Finding Subluxation of the proximal interphalangeal joint of the little finger Human Phenotype Ontology C4025404 HP:0004230 16 Feb 2016 Finding Subluxation of the small joints of the hand Human Phenotype Ontology C4025380 HP:0004269 16 Feb 2016 Finding Submandibular adenitis MONDO C0235591 MONDO:0003066 17 Apr 2020 Disease Submandibular gland adenocarcinoma MONDO C1336521 MONDO:0006435 17 Apr 2020 Disease Submandibular gland adenoid cystic carcinoma MONDO C1336522 MONDO:0006436 17 Apr 2020 Disease Submandibular gland cancer MONDO C0153360 MONDO:0004724 17 Apr 2020 Disease Submandibular gland disease MONDO C0038557 MONDO:0001597 17 Apr 2020 Disease Submandibular gland neoplasm MONDO C0038558 MONDO:0021244 17 Apr 2020 Disease Submucosal invasive colon adenocarcinoma MONDO C1515024 MONDO:0002496 17 Apr 2020 Disease Submucous cleft hard palate Human Phenotype Ontology C0432103 HP:0000176 16 Feb 2016 Finding Submucous cleft lip Human Phenotype Ontology C1839277 HP:0009101 16 Feb 2016 Finding Submucous cleft of soft and hard palate Human Phenotype Ontology C4477069 HP:0410031 04 Apr 2018 Finding Submucous cleft palate C4551487 11 May 2017 Finding Submucous cleft soft palate Human Phenotype Ontology C4023175 HP:0011819 16 Feb 2016 Finding Submucous uterine fibroid MONDO C0153993 MONDO:0001664 17 Apr 2020 Disease Subperiosteal bone formation Human Phenotype Ontology C2674853 HP:0031485 04 Apr 2018 Finding Subperiosteal bone resorption Human Phenotype Ontology C4476534 HP:0003106 04 Apr 2018 Finding Subpleural interstitial thickening Human Phenotype Ontology C4476638 HP:0025178 02 Apr 2017 Finding Subpulmonary stenosis C3165028 16 Feb 2016 Disease Subretinal deposits Human Phenotype Ontology C4531024 HP:0031528 04 Apr 2018 Finding Subretinal exudate Human Phenotype Ontology C0423431 HP:0011532 16 Feb 2016 Finding Subretinal fluid Human Phenotype Ontology C1720732 HP:0031526 04 Apr 2018 Finding Subretinal hemorrhage Human Phenotype Ontology C0271049 HP:0025243 02 Apr 2017 Finding Subretinal hyporeflective spaces on macular OCT Human Phenotype Ontology C4073094 HP:0030624 16 Feb 2016 Finding Subretinal pigment epithelium hemorrhage Human Phenotype Ontology C2037047 HP:0025244 02 Apr 2017 Finding Subsarcolemmal accumulations of abnormally shaped mitochondria Human Phenotype Ontology C4025597 HP:0003548 16 Feb 2016 Finding Subserous uterine fibroid MONDO C0153995 MONDO:0001745 17 Apr 2020 Disease Substance abuse C0740858 10 Mar 2016 Disease Substance dependence MONDO C0038580 MONDO:0004938 17 Apr 2020 Disease Substance-induced psychosis MONDO MONDO:0004630 17 Apr 2020 Disease Substance-related disorder MONDO C0236969 MONDO:0002494 17 Apr 2020 Disease Substantia nigra gliosis Human Phenotype Ontology C1846865 HP:0011960 16 Feb 2016 Finding Substernal goiter MONDO C0018024 MONDO:0006986 17 Apr 2020 Disease Subtentorial periventricular white matter hyperdensity Human Phenotype Ontology C4476645 HP:0025192 02 Apr 2017 Finding Subtle downslanting palpebral fissures CN235235 19 Feb 2016 Finding Subungual fibromas Human Phenotype Ontology C0266003 HP:0009724 16 Feb 2016 Finding Subungual glomus tumor MONDO C1304510 MONDO:0003341 17 Apr 2020 Disease Subungual hyperkeratosis Human Phenotype Ontology C0038605 HP:0008392 16 Feb 2016 Finding Subungual hyperkeratotic fragments Human Phenotype Ontology C1852311 HP:0008410 16 Feb 2016 Finding Subvalvular aortic stenosis Human Phenotype Ontology C0340375 HP:0001682 04 Apr 2018 Disease Succedaneous teeth, agenesis of NCBI curation 16 Feb 2016 Disease Succinate-semialdehyde dehydrogenase deficiency C0268631 271980 16 Feb 2016 Disease Succinic acidemia C1838243 600335 16 Feb 2016 Disease Succinic acidemia lactic acidosis congenital 16 Feb 2016 Disease Succinyl-CoA acetoacetate transferase deficiency C0342792 245050 16 Feb 2016 Disease succinylcholine response - Toxicity/ADR PharmGKB 1445400924PA451522 28 Jun 2019 Pharmacological response Suck reflex Human Phenotype Ontology C0234174 HP:0030906 02 Apr 2017 Finding SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria CN852729 10 Mar 2018 Disease Sucrase-isomaltase deficiency NCBI curation C1283620 222900 16 Feb 2016 Disease Sucrosuria, hiatus hernia and mental retardation NCBI curation C1848963 272000 16 Feb 2016 Disease Sudden Arrhythmia Death Syndrome C2721586 16 Feb 2016 Disease Sudden cardiac arrest NCBI curation C1720824 16 Feb 2016 Finding Sudden cardiac death Human Phenotype Ontology C0085298 HP:0001645 16 Feb 2016 Disease Sudden cardiac failure, alcohol-induced NCBI curation C4310663 617223 20 Jun 2017 Disease Sudden cardiac failure, infantile NCBI curation C4310664 617222 20 Jun 2017 Disease Sudden death Human Phenotype Ontology C0011071 HP:0001699 16 Feb 2016 Finding Sudden death in Childhood 24 Jan 2020 Finding Sudden episodic apnea Human Phenotype Ontology C4025671 HP:0002882 16 Feb 2016 Finding Sudden hearing loss disorder MONDO MONDO:0020677 17 Apr 2020 Disease SUDDEN INFANT DEATH SYNDROME OMIM C0038644 272120 272120 25 May 2016 Disease Sudden infant death syndrome, Brugada syndrome NCBI curation 16 Feb 2016 Disease Sudden infant death with dysgenesis of the testes syndrome NCBI curation C1837371 608800 16 Feb 2016 Disease Sudden loss of visual acuity Human Phenotype Ontology C4072828 HP:0001117 16 Feb 2016 Finding Sudden sensorineural hearing loss MONDO C4275242 MONDO:0043373 17 Apr 2020 Disease Sudden unexplained death C0520806 16 Feb 2016 Disease Sudden, non painful, loss of vision associated to retinal central vein thrombosis CN235372 02 Mar 2016 Finding sufentanil response - Dosage, Efficacy PharmGKB 655385205PA451527 28 Jun 2019 Pharmacological response Sugarman brachydactyly NCBI curation C1848962 272150 16 Feb 2016 Disease Suggestive features CN235249 19 Feb 2016 Finding Suicidal ideation Human Phenotype Ontology C0424000 HP:0031589 04 Apr 2018 Finding Sulfamethoxazole And Trimethoprim Response CN282575 17 Jun 2020 Pharmacological response Sulfasalazine Response CN282576 17 Jun 2020 Pharmacological response Sulfation-related bone disorder MONDO CN227674 MONDO:0019688 17 Apr 2020 Disease Sulfhemoglobinemia MONDO C0038732 MONDO:0006988 17 Apr 2020 Disease Sulfhemoglobinemia, congenital NCBI curation C1861437 185460 16 Feb 2016 Disease Sulfite oxidase deficiency Human Phenotype Ontology C2931746 HP:0003643 272300 16 Feb 2016 Disease Sulfite oxidase deficiency, isolated NCBI curation 16 Feb 2016 Disease sulfonamides, urea derivatives response - Efficacy PharmGKB CN236522 1043858905 18 May 2016 Pharmacological response Sulfur metabolism disease MONDO C1263724 MONDO:0056803 17 Apr 2020 Disease Summitt syndrome NCBI curation C1802405 272350 16 Feb 2016 Disease Sunburn MONDO MONDO:0005326 17 Apr 2020 Disease SUNCT syndrome MONDO C1262087 MONDO:0018927 17 Apr 2020 Disease sunitinib response - Toxicity/ADR PharmGKB 1446897666PA162372840 06 Jul 2018 Pharmacological response Sunken cheeks Human Phenotype Ontology C4024154 HP:0009938 16 Feb 2016 Finding Superficial corneal dystrophy MONDO C2315777 MONDO:0020212 17 Apr 2020 Disease Superficial dermal perivascular inflammatory infiltrate Human Phenotype Ontology C4531290 HP:0031190 04 Apr 2018 Finding Superficial episcleral hyperemia Human Phenotype Ontology C4476712 HP:0025339 02 Apr 2017 Finding Superficial Fibromatosis MONDO C0406571 MONDO:0016037 17 Apr 2020 Disease Superficial keratitis MONDO C0155074 MONDO:0001465 17 Apr 2020 Disease Superficial multifocal basal cell carcinoma MONDO C0334256 MONDO:0002954 17 Apr 2020 Disease Superficial mycosis MONDO C2980104 MONDO:0024268 04 Jun 2020 Infectious disease Superficial pemphigus MONDO CN227541 MONDO:0018745 17 Apr 2020 Disease Superficial siderosis MONDO CN226971 MONDO:0016594 17 Apr 2020 Disease Superficial siderosis of the central nervous system 16 Feb 2016 Disease Superficial spreading melanoma Human Phenotype Ontology C0334438 HP:0012057 16 Feb 2016 Disease Superficial thrombophlebitis Human Phenotype Ontology C1510431 HP:0002638 16 Feb 2016 Finding Superficial urinary bladder carcinoma MONDO C1336527 MONDO:0004200 17 Apr 2020 Disease Superior lens subluxation Human Phenotype Ontology C2036843 HP:0008019 16 Feb 2016 Finding Superior limbic keratoconjunctivitis MONDO C0339229 MONDO:0019504 17 Apr 2020 Disease Superior mesenteric artery syndrome C0038828 16 Feb 2016 Disease Superior pectus carinatum Human Phenotype Ontology C1864795 HP:0000917 16 Feb 2016 Finding Superior rectus atrophy Human Phenotype Ontology C1851108 HP:0012242 16 Feb 2016 Finding Superior rib anomalies Human Phenotype Ontology C4025129 HP:0005820 16 Feb 2016 Finding Superior transverse scapular ligament, calcification of, familial NCBI curation C1866424 601708 16 Feb 2016 Disease Superior vena cava angiosarcoma MONDO C1336530 MONDO:0003032 17 Apr 2020 Disease Superior vena cava leiomyosarcoma MONDO C1336531 MONDO:0004208 17 Apr 2020 Disease Superior vena cava syndrome C0038833 16 Feb 2016 Disease Superior-inferior ventricles without criss-cross atrioventricular valves Human Phenotype Ontology C4023308 HP:0011543 16 Feb 2016 Finding Superiorly displaced ears Human Phenotype Ontology C1850190 HP:0008541 16 Feb 2016 Finding Supernormal dark-adapted bright flash electroretinogram b-wave Human Phenotype Ontology C4072974 HP:0030484 16 Feb 2016 Finding Supernumerary bones of the axial skeleton Human Phenotype Ontology C4024573 HP:0009144 16 Feb 2016 Finding Supernumerary breasts MONDO C0266010 MONDO:0015854 17 Apr 2020 Disease Supernumerary der(22)t(8;22) syndrome NCBI curation C3150966 613700 05 Jul 2016 Disease Supernumerary maxillary incisor Human Phenotype Ontology C4025062 HP:0006332 16 Feb 2016 Finding Supernumerary metacarpal bones Human Phenotype Ontology C0545617 HP:0005917 16 Feb 2016 Finding Supernumerary naris Human Phenotype Ontology C4021372 HP:0009934 16 Feb 2016 Finding Supernumerary nipple Human Phenotype Ontology C0266011 HP:0002558 163700 16 Feb 2016 Finding Supernumerary ribs Human Phenotype Ontology C0345397 HP:0005815 16 Feb 2016 Finding Supernumerary spleens Human Phenotype Ontology C0266631 HP:0009799 16 Feb 2016 Finding Supernumerary testes Human Phenotype Ontology C0266430 HP:0010470 16 Feb 2016 Finding Supernumerary vertebrae Human Phenotype Ontology C0265681 HP:0002946 16 Feb 2016 Finding Supernumerary vertebral ossification centers Human Phenotype Ontology C4025309 HP:0004598 16 Feb 2016 Finding SUPEROXIDE DISMUTASE 2 POLYMORPHISM 16 Feb 2016 Disease Superoxide dismutase, elevated extracellular NCBI curation C3891298 16 Feb 2016 Disease Supine hypotensive syndrome MONDO MONDO:0001065 17 Apr 2020 Disease SUPPRESSION OF TUMORIGENICITY 12 OMIM CN317533 601188 601188 15 Jul 2017 Disease Suppressor of tumorigenicity 3 NCBI curation C1860658 191181 16 Feb 2016 Disease Suppurative cholangitis Human Phenotype Ontology C0267924 HP:0030987 04 Apr 2018 Finding Suppurative lymphadenitis MONDO C0392051 MONDO:0003069 17 Apr 2020 Disease Suppurative otitis media MONDO C0029888 MONDO:0005975 17 Apr 2020 Disease Suppurative periapical periodontitis MONDO C0031024 MONDO:0006989 17 Apr 2020 Disease Suppurative thyroiditis MONDO C0040150 MONDO:0001947 17 Apr 2020 Disease Suppurative uveitis MONDO C0042168 MONDO:0006990 17 Apr 2020 Disease Supraauricular pit Human Phenotype Ontology C1862059 HP:0008606 16 Feb 2016 Finding Suprabasal epidermolysis bullosa simplex MONDO C4511300 MONDO:0015550 17 Apr 2020 Disease Supracardiac total anomalous pulmonary venous connection Human Phenotype Ontology C4021131 HP:0011719 16 Feb 2016 Finding Supraglottic laryngeal cancer 16 Feb 2016 Disease Supraglottis cancer MONDO C0153484 MONDO:0001724 17 Apr 2020 Disease Supraglottis neoplasm MONDO C0345726 MONDO:0004427 17 Apr 2020 Disease Supraglottis squamous cell carcinoma MONDO C0749163 MONDO:0004293 17 Apr 2020 Disease Supraglottis verrucous carcinoma MONDO C0280331 MONDO:0004292 17 Apr 2020 Disease Supramitral ring Human Phenotype Ontology C4021142 HP:0011572 16 Feb 2016 Finding Supranuclear gaze palsy Human Phenotype Ontology C1720037 HP:0000605 16 Feb 2016 Finding Supranuclear ocular palsy 16 Feb 2016 Disease Supranuclear oculomotor palsy MONDO CN258498 MONDO:0020257 17 Apr 2020 Disease Supranuclear ophthalmoplegia Human Phenotype Ontology C1408507 HP:0000623 16 Feb 2016 Finding Supranuclear palsy, progressive, 1, atypical NCBI curation 16 Feb 2016 Disease Supranuclear palsy, progressive, 2 NCBI curation C1836148 609454 16 Feb 2016 Disease Supranuclear palsy, progressive, 3 NCBI curation C1970476 610898 16 Feb 2016 Disease Suprasellar arachnoid cyst Human Phenotype Ontology C4022882 HP:0012489 16 Feb 2016 Finding Suprasellar meningioma MONDO C1336535 MONDO:0004312 17 Apr 2020 Disease Supratentorial cancer MONDO MONDO:0002071 17 Apr 2020 Disease Supratentorial ependymal tumor MONDO C4331360 MONDO:0020687 17 Apr 2020 Disease Supratentorial neoplasm Human Phenotype Ontology C0038874 HP:0030693 02 Apr 2017 Finding Supratentorial primitive neuroectodermal tumor C1336538 16 Feb 2016 Disease Supratentorial primitive neuroectodermal tumors, childhood 16 Feb 2016 Disease Supratip dysplasia MONDO CN242133 MONDO:0018757 17 Apr 2020 Disease Supravalvar aortic stenosis C0003499 185500 16 Feb 2016 Disease Supravalvular pulmonary stenosis MONDO C2910138 MONDO:0017870 22 Apr 2020 Disease Supraventricular arrhythmia Human Phenotype Ontology C0428974 HP:0005115 16 Feb 2016 Finding Supraventricular tachycardia Human Phenotype Ontology C0039240 HP:0004755 16 Feb 2016 Finding Supraventricular tachycardia with a concealed accessory connection Human Phenotype Ontology C4023231 HP:0011689 16 Feb 2016 Finding Supraventricular tachycardia with a concealed accessory pathway on the left free wall Human Phenotype Ontology C4023230 HP:0011691 16 Feb 2016 Finding Supraventricular tachycardia with a concealed accessory pathway on the right free wall Human Phenotype Ontology C4023229 HP:0011692 16 Feb 2016 Finding Supraventricular tachycardia with a concealed accessory pathway on the septum Human Phenotype Ontology C4023228 HP:0011693 16 Feb 2016 Finding Supraventricular tachycardia with a manifest accessory pathway Human Phenotype Ontology C4023227 HP:0011694 16 Feb 2016 Finding Supraventricular tachycardia with a manifest accessory pathway on the left free wall Human Phenotype Ontology C4023226 HP:0011696 16 Feb 2016 Finding Supraventricular tachycardia with a manifest accessory pathway on the right free wall Human Phenotype Ontology C4023225 HP:0011697 16 Feb 2016 Finding Supraventricular tachycardia with a manifest accessory pathway on the septum Human Phenotype Ontology C4023224 HP:0011698 16 Feb 2016 Finding Supraventricular tachycardia with an accessory connection mediated pathway Human Phenotype Ontology C4021132 HP:0011688 16 Feb 2016 Finding Surface antigen, glycoprotein 75 NCBI curation C1861423 185540 16 Feb 2016 Disease Surface polypeptides, anonymous NCBI curation C1861417 185610 16 Feb 2016 Disease Surfactant metabolism dysfunction, pulmonary, 1 NCBI curation C1968602 265120 16 Feb 2016 Disease Surfactant metabolism dysfunction, pulmonary, 2 NCBI curation C1970470 610913 16 Feb 2016 Disease Surfactant metabolism dysfunction, pulmonary, 3 NCBI curation C1970456 610921 16 Feb 2016 Disease Surfactant metabolism dysfunction, pulmonary, 4 NCBI curation C2677877 300770 16 Feb 2016 Disease Surfactant metabolism dysfunction, pulmonary, 5 NCBI curation C3280574 614370 16 Feb 2016 Disease Susac syndrome C2717757 16 Feb 2016 Disease Susceptibility to acute rheumatic fever NCBI curation C1849383 268240 16 Feb 2016 Disease Susceptibility to age-related macular degeneration, wet type NCBI curation C1857815 16 Feb 2016 Disease Susceptibility to bulimia nervosa NCBI curation C4551963 607499 18 Dec 2019 Disease Susceptibility to chickenpox Human Phenotype Ontology C1855205 HP:0005360 16 Feb 2016 Finding Susceptibility to hangover NCBI curation C2608086 16 Feb 2016 Disease Susceptibility to herpesvirus Human Phenotype Ontology C4025207 HP:0005353 16 Feb 2016 Finding Susceptibility to leprosy and multibacillary leprosy NCBI curation CN283245 30 Jun 2020 Disease Susceptibility to localized juvenile periodontitis MONDO CN237700 MONDO:0018643 17 Apr 2020 Disease Susceptibility to lysis by alloreactive natural killer cells NCBI curation C1848953 272370 16 Feb 2016 Disease Susceptibility to malaria NCBI curation C1970028 611162 16 Feb 2016 Disease Susceptibility to neovascular type of age-related macular degeneration NCBI curation C1857814 16 Feb 2016 Disease Susceptibility to Nonalcoholic Fatty Liver Disease CN239363 02 Dec 2016 Disease Susceptibility to nonsyndromic otitis media 19 Jun 2020 Disease Susceptibility to Parkinson's Disease CN239381 02 Dec 2016 Disease Susceptibility to progression to renal failure in IgA nephropathy NCBI curation C1862886 16 Feb 2016 Disease Susceptibility to severe cutaneous adverse reaction NCBI curation C1840548 608579 16 Feb 2016 Disease Susceptibility to strabismus NCBI curation C1861449 185100 16 Feb 2016 Disease Susceptibility to uveal melanoma MONDO C0220633 MONDO:0007966 155720 17 Apr 2020 Disease Suspected Larsen syndrome clinically CN239027 08 Nov 2016 Finding Suspected Nephronophthisis 20 Jun 2019 Finding Suspicion of cortical dysplasia 23 Jan 2020 Finding Sutton disease 2 16 Feb 2016 Disease Sutural cataract Human Phenotype Ontology C4023734 HP:0010695 16 Feb 2016 Finding Suxamethonium response - slow metabolism 05 Jul 2018 Pharmacological response Suxamethonium sensitivity NCBI curation C1622434 16 Feb 2016 Pharmacological response Sveinsson chorioretinal atrophy NCBI curation C1862382 108985 16 Feb 2016 Disease swallowing troubles CN188717 16 Feb 2016 Finding Swan neck-like deformities of the fingers Human Phenotype Ontology C1849152 HP:0006150 16 Feb 2016 Finding SWANN BLOOD GROUP ANTIGEN 16 Feb 2016 Blood group Swayback MONDO MONDO:0003280 17 Apr 2020 Disease Sweat chloride elevation without cystic fibrosis NCBI curation C4016791 16 Feb 2016 Disease Sweat gland adenoma MONDO C0019522 MONDO:0021110 17 Apr 2020 Disease Sweat gland cancer MONDO C1321904 MONDO:0002206 17 Apr 2020 Disease Sweat gland carcinoma MONDO C1412016 MONDO:0005524 17 Apr 2020 Disease Sweat gland neoplasm MONDO C0038987 MONDO:0002381 17 Apr 2020 Disease SWEENEY-COX SYNDROME OMIM C4540299 617746 617746 29 Oct 2017 Disease Sweet craving Human Phenotype Ontology C0241314 HP:0030221 16 Feb 2016 Finding swelling C0038999 13 Feb 2020 Finding Swelling mass in head and neck CN234393 16 Feb 2016 Finding Swelling of proximal interphalangeal joints Human Phenotype Ontology C1860841 HP:0006253 16 Feb 2016 Finding swelling of the ankles, knees, wrists and elbows 13 Feb 2020 Finding Swine disease MONDO C0039006 MONDO:0024990 17 Apr 2020 Disease Swine influenza MONDO C0276357 MONDO:0005460 04 Jun 2020 Infectious disease Swiss cheese atrial septal defect Human Phenotype Ontology C4476915 HP:0031017 04 Apr 2018 Finding swollen joints 13 Feb 2020 Finding Swollen lip Human Phenotype Ontology C0240211 HP:0031244 04 Apr 2018 Finding Swyer James syndrome 16 Feb 2016 Disease Sydenham's chorea 16 Feb 2016 Disease Sydney crease Human Phenotype Ontology C4023420 HP:0011311 16 Feb 2016 Finding Symblepharon Human Phenotype Ontology C0152454 HP:0430007 16 Feb 2016 Finding Symbrachydactyly of hand and foot, bilateral MONDO MONDO:0017520 17 Apr 2020 Disease Symbrachydactyly of hand and foot, unilateral MONDO MONDO:0017519 17 Apr 2020 Disease Symbrachydactyly of hands and feet MONDO C2931719 MONDO:0015516 17 Apr 2020 Disease Symetrical distal arthritis Human Phenotype Ontology C4477045 HP:0040311 04 Apr 2018 Finding Symmastia 16 Feb 2016 Disease symmetric basal ganglia lesions CN232684 16 Feb 2016 Finding Symmetric circumferential skin creases, congenital, 1 NCBI curation C4551592 156610 16 Jan 2020 Disease Symmetric diffusion restriction in dorsal brain stem 20 Jun 2019 Finding symmetric frontal white matter (pericallosal) lesions CN232680 16 Feb 2016 Finding Symmetric great toe depigmentation Human Phenotype Ontology C4021900 HP:0200015 16 Feb 2016 Finding Symmetric lesions of the basal ganglia Human Phenotype Ontology C4024947 HP:0007039 16 Feb 2016 Finding Symmetric peripheral demyelination Human Phenotype Ontology C4024914 HP:0007262 16 Feb 2016 Finding Symmetric spinal nerve root neurofibromas Human Phenotype Ontology C1834236 HP:0006851 16 Feb 2016 Finding symmetric thorax 22 Aug 2019 Finding Symmetrical dyschromatosis of extremities C0406775 127400 16 Feb 2016 Disease Symmetrical progressive peripheral demyelination Human Phenotype Ontology C4024972 HP:0006873 16 Feb 2016 Finding Symmetrical thalamic calcifications CN267627 16 Feb 2016 Disease symmetrical weakness 13 Feb 2020 Finding Symmetrical, oval parietal bone defects Human Phenotype Ontology C1865045 HP:0002695 16 Feb 2016 Finding Sympathetic nervous system disease MONDO MONDO:0044993 17 Apr 2020 Disease Sympathetic neurilemmoma MONDO C1336543 MONDO:0002554 17 Apr 2020 Disease Sympathetic ophthalmia MONDO C0029077 MONDO:0019198 17 Apr 2020 Disease Sympathetic paraganglioma MONDO C0334415 MONDO:0021072 17 Apr 2020 Disease Symphalangism MONDO MONDO:0000151 17 Apr 2020 Disease Symphalangism affecting the distal phalanges of the toes Human Phenotype Ontology C4023978 HP:0010191 16 Feb 2016 Finding Symphalangism affecting the distal phalanx of the 2nd toe Human Phenotype Ontology C4023837 HP:0010419 16 Feb 2016 Finding Symphalangism affecting the distal phalanx of the 3rd toe Human Phenotype Ontology C4022051 HP:0100476 16 Feb 2016 Finding Symphalangism affecting the distal phalanx of the 4th toe Human Phenotype Ontology C4022050 HP:0100477 16 Feb 2016 Finding Symphalangism affecting the distal phalanx of the 5th toe Human Phenotype Ontology C4022049 HP:0100478 16 Feb 2016 Finding Symphalangism affecting the distal phalanx of the hallux Human Phenotype Ontology C4024063 HP:0010082 16 Feb 2016 Finding Symphalangism affecting the middle phalanges of the toes Human Phenotype Ontology C4023973 HP:0010200 16 Feb 2016 Finding Symphalangism affecting the middle phalanx of the 2nd toe Human Phenotype Ontology C4023845 HP:0010410 16 Feb 2016 Finding Symphalangism affecting the middle phalanx of the 3rd toe Human Phenotype Ontology C4022057 HP:0100470 16 Feb 2016 Finding Symphalangism affecting the middle phalanx of the 4th toe Human Phenotype Ontology C4022056 HP:0100471 16 Feb 2016 Finding Symphalangism affecting the middle phalanx of the 5th toe Human Phenotype Ontology C4022055 HP:0100472 16 Feb 2016 Finding Symphalangism affecting the phalanges of the 2nd toe Human Phenotype Ontology C4023887 HP:0010353 16 Feb 2016 Finding Symphalangism affecting the phalanges of the 3rd toe Human Phenotype Ontology C4023880 HP:0010365 16 Feb 2016 Finding Symphalangism affecting the phalanges of the 4th toe Human Phenotype Ontology C4023872 HP:0010377 16 Feb 2016 Finding Symphalangism affecting the phalanges of the 5th toe Human Phenotype Ontology C4023864 HP:0010389 16 Feb 2016 Finding Symphalangism affecting the phalanges of the hallux Human Phenotype Ontology C1836216 HP:0010064 16 Feb 2016 Finding Symphalangism affecting the phalanges of the hand Human Phenotype Ontology C4021390 HP:0009773 16 Feb 2016 Finding Symphalangism affecting the phalanges of the toes Human Phenotype Ontology C4023984 HP:0010179 16 Feb 2016 Finding Symphalangism affecting the proximal phalanges of the hand Human Phenotype Ontology C4024178 HP:0009857 16 Feb 2016 Finding Symphalangism affecting the proximal phalanges of the toes Human Phenotype Ontology C4023970 HP:0010209 16 Feb 2016 Finding Symphalangism affecting the proximal phalanx of the 2nd finger Human Phenotype Ontology C4024277 HP:0009586 16 Feb 2016 Finding Symphalangism affecting the proximal phalanx of the 2nd toe Human Phenotype Ontology C4023853 HP:0010401 16 Feb 2016 Finding Symphalangism affecting the proximal phalanx of the 3rd finger Human Phenotype Ontology C4024350 HP:0009455 16 Feb 2016 Finding Symphalangism affecting the proximal phalanx of the 3rd toe Human Phenotype Ontology C4022054 HP:0100473 16 Feb 2016 Finding Symphalangism affecting the proximal phalanx of the 4th finger Human Phenotype Ontology C4024448 HP:0009314 16 Feb 2016 Finding Symphalangism affecting the proximal phalanx of the 4th toe Human Phenotype Ontology C4022053 HP:0100474 16 Feb 2016 Finding Symphalangism affecting the proximal phalanx of the 5th finger Human Phenotype Ontology C4024512 HP:0009232 16 Feb 2016 Finding Symphalangism affecting the proximal phalanx of the 5th toe Human Phenotype Ontology C4022052 HP:0100475 16 Feb 2016 Finding Symphalangism affecting the proximal phalanx of the hallux Human Phenotype Ontology C4024056 HP:0010091 16 Feb 2016 Finding Symphalangism brachydactyly 16 Feb 2016 Disease Symphalangism brachydactyly craniosynostosis 16 Feb 2016 Disease Symphalangism familial proximal 16 Feb 2016 Disease Symphalangism of middle phalanx of 2nd finger Human Phenotype Ontology C4024284 HP:0009574 16 Feb 2016 Finding Symphalangism of middle phalanx of 3rd finger Human Phenotype Ontology C4024363 HP:0009435 16 Feb 2016 Finding Symphalangism of middle phalanx of 4th finger Human Phenotype Ontology C4024453 HP:0009308 16 Feb 2016 Finding Symphalangism of middle phalanx of 5th finger Human Phenotype Ontology C4024554 HP:0009178 16 Feb 2016 Finding Symphalangism of middle phalanx of finger Human Phenotype Ontology C4024184 HP:0009849 16 Feb 2016 Finding Symphalangism of the 2nd finger Human Phenotype Ontology C4021446 HP:0009545 16 Feb 2016 Finding Symphalangism of the 3rd finger Human Phenotype Ontology C4024358 HP:0009445 16 Feb 2016 Finding Symphalangism of the 4th finger Human Phenotype Ontology C4021679 HP:0004197 16 Feb 2016 Finding Symphalangism of the 5th finger Human Phenotype Ontology C4021676 HP:0004218 16 Feb 2016 Finding Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metatcarpal Human Phenotype Ontology C4024274 HP:0009598 16 Feb 2016 Finding Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal Human Phenotype Ontology C4022048 HP:0100483 16 Feb 2016 Finding Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metatcarpal Human Phenotype Ontology C4024339 HP:0009483 16 Feb 2016 Finding Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal Human Phenotype Ontology C4022047 HP:0100484 16 Feb 2016 Finding Symphalangism of the proximal phalanx of the 4th finger with the 4th metatcarpal Human Phenotype Ontology C4024341 HP:0009478 16 Feb 2016 Finding Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal Human Phenotype Ontology C4022046 HP:0100485 16 Feb 2016 Finding Symphalangism of the proximal phalanx of the 5th finger with the 5th metatcarpal Human Phenotype Ontology C4024510 HP:0009234 16 Feb 2016 Finding Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal Human Phenotype Ontology C4022045 HP:0100486 16 Feb 2016 Finding Symphalangism of the thumb Human Phenotype Ontology C1834032 HP:0009656 16 Feb 2016 Finding Symphalangism of toes NCBI curation C1861418 185600 16 Feb 2016 Disease Symphalangism short stature accessory testis 16 Feb 2016 Disease Symphalangism with multiple anomalies of hands and feet C1861391 185750 16 Feb 2016 Disease Symphalangism, c. s. lewis type NCBI curation C1861404 185650 20 Jun 2017 Disease Symphalangism, distal NCBI curation C1861401 185700 16 Feb 2016 Disease Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch C1847185 606895 16 Feb 2016 Disease Symphalangism, proximal, 1A NCBI curation C3714899 185800 20 Jan 2020 Disease Symphalangism, proximal, 1B NCBI curation C3809104 615298 20 Jan 2020 Disease Symphalangism-brachydactyly syndrome C0342282 186500 16 Feb 2016 Disease symptomatic CN235625 24 Mar 2016 Finding Symptomatic form of Coffin-Lowry syndrome in female carriers MONDO CN202633 MONDO:0017193 17 Apr 2020 Disease Symptomatic form of fragile X syndrome in female carrier MONDO CN237736 MONDO:0018670 17 Apr 2020 Disease Symptomatic form of hemophilia A in female carriers MONDO CN200369 MONDO:0015787 17 Apr 2020 Disease Symptomatic form of hemophilia B in female carriers MONDO CN200370 MONDO:0015788 17 Apr 2020 Disease Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers MONDO CN200864 MONDO:0016097 17 Apr 2020 Disease Symptomatic heart failure MONDO MONDO:0005254 17 Apr 2020 Disease Symptomatic seizures Human Phenotype Ontology C4023516 HP:0011145 16 Feb 2016 Finding symptoms involving musculoskeletal system 05 Sep 2019 Finding symptoms involving the musculoskeletal system 05 Sep 2019 Finding symptoms of autism spectrum disorder 05 Sep 2019 Finding symptoms of tuberous sclerosis 08 Oct 2017 Finding Synaptopathy MONDO MONDO:0021017 17 Apr 2020 Disease Syncamptodactyly scoliosis 16 Feb 2016 Disease Synchronous bilateral breast carcinoma MONDO C1515107 MONDO:0003983 17 Apr 2020 Disease Synchronous multifocal osteogenic sarcoma MONDO C1336544 MONDO:0003967 17 Apr 2020 Disease Syncope Human Phenotype Ontology C0039070 HP:0001279 16 Feb 2016 Finding Syndactylia 03 Sep 2019 Finding Syndactyly (disease) MONDO MONDO:0021002 17 Apr 2020 Disease Syndactyly cataract mental retardation 16 Feb 2016 Disease Syndactyly ectodermal dysplasia cleft lip palate hand foot 16 Feb 2016 Disease syndactyly of fingers 4-5 CN238483 13 Sep 2016 Finding syndactyly of toes 2-3 CN238482 13 Sep 2016 Finding syndactyly of toes without fusion NCBI curation 02 Jan 2020 Finding Syndactyly type 1 C1861380 185900 16 Feb 2016 Disease Syndactyly type 3 C1861366 186100 16 Feb 2016 Disease Syndactyly type 6 MONDO C4706525 MONDO:0017460 17 Apr 2020 Disease Syndactyly, type IV NCBI curation C1861355 186200 08 Apr 2018 Disease Syndactyly, type V NCBI curation C1861348 186300 27 Jun 2016 Disease Syndactyly-polydactyly-ear lobe syndrome MONDO C1861347 MONDO:0008517 186350 17 Apr 2020 Disease Syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO C2678045 MONDO:0010408 300707 17 Apr 2020 Disease Syndesmodysplasic dwarfism C2931647 272450 16 Feb 2016 Disease syndromal disease 16 Jan 2020 Finding Syndrome associated with dilated cardiomyopathy MONDO CN201167 MONDO:0016337 17 Apr 2020 Disease Syndrome caused by partial chromosomal deletion MONDO MONDO:0000761 17 Apr 2020 Disease Syndrome caused by partial chromosomal duplication MONDO MONDO:0000762 17 Apr 2020 Disease Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4) CN207522 16 Feb 2016 Disease syndrome of inappropriate antidiuretic hormone 24 Jul 2018 Finding Syndrome or malformation associated with head and neck malformations MONDO CN199635 MONDO:0015501 17 Apr 2020 Disease Syndrome with 46,XX disorder of sex development MONDO CN204115 MONDO:0017965 17 Apr 2020 Disease Syndrome with 46,XY disorder of sex development MONDO CN206965 MONDO:0020042 17 Apr 2020 Disease Syndrome with a central nervous system malformation as major feature MONDO CN197562 MONDO:0015220 17 Apr 2020 Disease Syndrome with a cerebellar malformation as major feature MONDO CN202468 MONDO:0017118 17 Apr 2020 Disease Syndrome with a Dandy-Walker malformation as major feature CN202471 29 May 2019 Disease Syndrome with a symptomatic strabismus MONDO CN207072 MONDO:0020253 17 Apr 2020 Disease Syndrome with brachydactyly MONDO CN205546 MONDO:0019066 17 Apr 2020 Disease Syndrome with combined immunodeficiency MONDO CN204279 MONDO:0018035 17 Apr 2020 Disease Syndrome with corpus callosum agenesis /dysgenesis as a major feature MONDO CN200739 MONDO:0016055 17 Apr 2020 Disease Syndrome with disorder of sex development of gynecological interest MONDO CN204125 MONDO:0017978 17 Apr 2020 Disease Syndrome with hypoparathyroidism MONDO CN200505 MONDO:0015895 17 Apr 2020 Disease Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy MONDO CN203181 MONDO:0017434 17 Apr 2020 Disease Syndrome with limb malformations as a major feature MONDO CN197565 MONDO:0015226 17 Apr 2020 Disease Syndrome with limb reduction defects MONDO CN203180 MONDO:0017432 17 Apr 2020 Disease Syndrome with microcephaly as major feature MONDO CN202469 MONDO:0017119 17 Apr 2020 Disease syndrome with premature-aging 19 Oct 2019 Finding Syndrome with pulmonary hypertension as a major feature MONDO CN202581 MONDO:0017159 17 Apr 2020 Disease Syndrome with synostosis or other joint formation defect MONDO CN206620 MONDO:0019715 17 Apr 2020 Disease Syndrome with woolly hair MONDO C0345427 MONDO:0018558 17 Apr 2020 Disease Syndromic agammaglobulinemia MONDO CN226939 MONDO:0016463 17 Apr 2020 Disease Syndromic aniridia MONDO CN227798 MONDO:0020148 17 Apr 2020 Disease Syndromic ankyloblepharon MONDO CN227801 MONDO:0020156 17 Apr 2020 Disease Syndromic anorectal malformation MONDO CN226645 MONDO:0015246 17 Apr 2020 Disease Syndromic breast hypoplasia/aplasia MONDO CN226755 MONDO:0015856 17 Apr 2020 Disease Syndromic cataract MONDO CN227829 MONDO:0020225 17 Apr 2020 Disease Syndromic congenital sodium diarrhea MONDO CN262990 MONDO:0034204 17 Apr 2020 Disease Syndromic constitutional thrombocytopenia MONDO CN776900 MONDO:0018795 17 Apr 2020 Disease Syndromic corneal dystrophy MONDO CN227823 MONDO:0020215 17 Apr 2020 Disease Syndromic craniosynostosis MONDO CN226660 MONDO:0015338 17 Apr 2020 Disease Syndromic developmental defect of the eye MONDO MONDO:0015218 17 Apr 2020 Disease Syndromic diaphragmatic or abdominal wall malformation MONDO CN226633 MONDO:0015216 17 Apr 2020 Disease Syndromic diaphragmatic or thoracic malformation MONDO CN226770 MONDO:0015880 17 Apr 2020 Disease Syndromic disease MONDO C0039082 MONDO:0002254 17 Apr 2020 Disease Syndromic epicanthus MONDO CN227805 MONDO:0020165 17 Apr 2020 Disease Syndromic esophageal malformation MONDO CN226625 MONDO:0015208 17 Apr 2020 Disease Syndromic gastroduodenal malformation MONDO CN226627 MONDO:0015210 17 Apr 2020 Disease Syndromic genetic deafness MONDO CN206426 MONDO:0019589 17 Apr 2020 Disease Syndromic genetic obesity MONDO CN226963 MONDO:0016565 17 Apr 2020 Disease Syndromic hair shaft abnormality MONDO CN227611 MONDO:0019282 17 Apr 2020 Disease Syndromic hereditary optic neuropathy MONDO CN237645 MONDO:0018609 17 Apr 2020 Disease Syndromic Hirschsprung Disease CN868251 16 Mar 2018 Disease Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus 15 Aug 2018 Disease Syndromic hyperopia MONDO CN227820 MONDO:0020210 17 Apr 2020 Disease Syndromic hypothyroidism MONDO CN226739 MONDO:0015778 17 Apr 2020 Disease Syndromic ichthyosis associated with ocular features MONDO MONDO:0020269 17 Apr 2020 Disease Syndromic Infantile Encephalopathy 15 Feb 2019 Disease Syndromic intellectual disability CN225415 16 Feb 2016 Disease Syndromic intellectual disability, X-linked Orphanet CN227788 ORPHA98464 16 Feb 2016 Disease Syndromic intestinal malformation MONDO CN226629 MONDO:0015212 17 Apr 2020 Disease Syndromic keratoconus MONDO CN227821 MONDO:0020211 17 Apr 2020 Disease Syndromic lymphedema MONDO MONDO:0019520 17 Apr 2020 Disease Syndromic mental retardation, Nascimento type, X-linked NCBI curation C3275464 300860 16 Feb 2016 Disease Syndromic microphthalmia Orphanet CN228566 ORPHA202948 16 Feb 2016 Disease Syndromic microphthalmia type 5 MONDO C1864690 MONDO:0012413 610125 22 Apr 2020 Disease Syndromic Microphthalmia, Dominant CN239443 02 Dec 2016 Disease Syndromic Microphthalmia, Recessive CN239456 02 Dec 2016 Disease Syndromic myopia MONDO MONDO:0020208 17 Apr 2020 Disease Syndromic nail anomaly MONDO CN227613 MONDO:0019285 17 Apr 2020 Disease Syndromic neurometabolic disease with non-X-linked intellectual disability MONDO CN200517 MONDO:0015919 17 Apr 2020 Disease Syndromic neurometabolic disease with X-linked intellectual disability MONDO CN200518 MONDO:0015920 17 Apr 2020 Disease Syndromic oculocutaneous albinism MONDO CN227111 MONDO:0017305 17 Apr 2020 Disease Syndromic optic nerve hypoplasia MONDO CN226655 MONDO:0015310 17 Apr 2020 Disease Syndromic or isolated MONDO MONDO:0021126 17 Apr 2020 Disease Syndromic palpebral coloboma MONDO CN227802 MONDO:0020157 17 Apr 2020 Disease Syndromic recessive X-linked ichthyosis MONDO C4274085 MONDO:0017264 17 Apr 2020 Disease Syndromic renal or urinary tract malformation MONDO CN227683 MONDO:0019721 17 Apr 2020 Disease Syndromic respiratory or mediastinal malformation MONDO CN226638 MONDO:0015222 17 Apr 2020 Disease Syndromic retinitis pigmentosa MONDO CN280759 MONDO:0020240 22 Apr 2020 Disease Syndromic severe congenital neutropenia CN239555 09 Dec 2016 Finding Syndromic urogenital tract malformation MONDO CN226715 MONDO:0015620 17 Apr 2020 Disease Syndromic uterovaginal malformation MONDO CN226751 MONDO:0015846 17 Apr 2020 Disease Syndromic visceral malformation MONDO CN226631 MONDO:0015214 17 Apr 2020 Disease Syndromic X-linked intellectual disability 7 MONDO C1846170 MONDO:0010270 300218 17 Apr 2020 Disease Syndromic X-linked intellectual disability Abidi type MONDO C1846056 MONDO:0010285 300262 17 Apr 2020 Disease Syndromic X-linked intellectual disability Lubs type MONDO C1846058 MONDO:0010283 300260 17 Apr 2020 Disease Syndromic X-linked intellectual disability Shashi type MONDO C1846145 MONDO:0010277 300238 17 Apr 2020 Disease Syndromic X-linked intellectual disability Siderius type MONDO C1846055 MONDO:0010286 300263 17 Apr 2020 Disease Syndromic X-linked intellectual disability Snyder type MONDO C0796160 MONDO:0010664 309583 17 Apr 2020 Disease Syndromic X-linked mental retardation 16 NCBI curation C3275558 16 Feb 2016 Disease Syndromic X-linked mental retardation, Cabezas type NCBI curation C1845861 300354 16 Feb 2016 Disease SYNE1-Related Disorders 23 May 2019 Disease synechia C0334157 04 Dec 2019 Finding Synesthesia NCBI curation C0233778 612759 16 Feb 2016 Disease Syngap1-related developmental and epileptic encephalopathy MONDO CN262997 MONDO:0034099 17 Apr 2020 Disease Syngnathia cleft palate 16 Feb 2016 Disease Syngnathia multiple anomalies C5190737 16 Feb 2016 Disease Syngnathia-cleft palate syndrome MONDO CN204137 MONDO:0017981 17 Apr 2020 Disease synofris 22 Aug 2019 Finding Synophrys Human Phenotype Ontology C0431447 HP:0000664 16 Feb 2016 Finding Synophyrus 23 Feb 2018 Finding synophys 24 Nov 2017 Finding synoprhys 22 Aug 2019 Finding Synostoses, tarsal, carpal, and digital C1876184 186400 16 Feb 2016 Disease Synostosis MONDO C0039093 MONDO:0001411 17 Apr 2020 Disease Synostosis involving bones of the feet Human Phenotype Ontology C4024575 HP:0009140 16 Feb 2016 Finding Synostosis involving bones of the hand Human Phenotype Ontology C4020831 HP:0004278 16 Feb 2016 Finding Synostosis involving bones of the lower limbs Human Phenotype Ontology C4024577 HP:0009138 16 Feb 2016 Finding Synostosis involving bones of the toes Human Phenotype Ontology C4022186 HP:0100235 16 Feb 2016 Finding Synostosis involving bones of the upper limbs Human Phenotype Ontology C4022184 HP:0100238 16 Feb 2016 Finding Synostosis involving digits Human Phenotype Ontology C4022178 HP:0100262 16 Feb 2016 Finding Synostosis involving the 1st metacarpal Human Phenotype Ontology C4021397 HP:0009703 16 Feb 2016 Finding Synostosis involving the 1st metatarsal Human Phenotype Ontology C4024071 HP:0010073 16 Feb 2016 Finding Synostosis involving the 2nd metacarpal Human Phenotype Ontology C4024228 HP:0009705 16 Feb 2016 Finding Synostosis involving the 3rd metacarpal Human Phenotype Ontology C4024227 HP:0009706 16 Feb 2016 Finding Synostosis involving the 4th metacarpal Human Phenotype Ontology C4024226 HP:0009707 16 Feb 2016 Finding Synostosis involving the 5th metacarpal Human Phenotype Ontology C4024225 HP:0009708 16 Feb 2016 Finding Synostosis involving the elbow Human Phenotype Ontology C4025494 HP:0003938 16 Feb 2016 Finding Synostosis involving the fibula Human Phenotype Ontology C4025104 HP:0005928 16 Feb 2016 Finding Synostosis involving the tibia Human Phenotype Ontology C4025103 HP:0005929 16 Feb 2016 Finding Synostosis of carpal bones Human Phenotype Ontology C1836193 HP:0005048 16 Feb 2016 Finding Synostosis of carpals/tarsals Human Phenotype Ontology C4021025 HP:0100266 16 Feb 2016 Finding Synostosis of joints Human Phenotype Ontology C0332790 HP:0100240 16 Feb 2016 Finding Synostosis of metacarpals/metatarsals Human Phenotype Ontology C4022177 HP:0100265 16 Feb 2016 Finding Synostosis of second metacarpal-trapezoid Human Phenotype Ontology C4021665 HP:0004293 16 Feb 2016 Finding Synostosis of talus and calcaneus short stature 16 Feb 2016 Disease Synostosis of talus and calcaneus with short stature NCBI curation 16 Feb 2016 Disease Synostosis of the proximal phalanx of the hallux with the 1st metatarsal Human Phenotype Ontology C4022043 HP:0100488 16 Feb 2016 Finding Synostosis of the proximal phalanx of the thumb with the 1st metatcarpal Human Phenotype Ontology C4024262 HP:0009640 16 Feb 2016 Finding Synostosis of thumb phalanx Human Phenotype Ontology C4024263 HP:0009635 16 Feb 2016 Finding Synotia Human Phenotype Ontology C0266677 HP:0100663 16 Feb 2016 Finding Synovial angioma MONDO C1336546 MONDO:0004519 17 Apr 2020 Disease Synovial bursa disease MONDO C0263946 MONDO:0056802 17 Apr 2020 Disease Synovial cancer 16 Feb 2016 Disease Synovial Chondromatosis C0008476 16 Feb 2016 Disease Synovial chondromatosis of the elbow Human Phenotype Ontology C4025492 HP:0003942 16 Feb 2016 Finding Synovial chondromatosis, familial, with dwarfism MONDO C1861304 MONDO:0008522 186575 22 Apr 2020 Disease Synovial hypertrophy Human Phenotype Ontology C0410574 HP:0005186 16 Feb 2016 Finding Synovial sarcoma Human Phenotype Ontology C0039101 HP:0012570 300813 16 Feb 2016 Disease Synovitis Human Phenotype Ontology C0039103 HP:0100769 16 Feb 2016 Disease Synovitis (disease) MONDO MONDO:0002400 17 Apr 2020 Disease Synovitis acne pustulosis hyperostosis osteitis 16 Feb 2016 Disease Synovitis, chronic, susceptibility to NCBI curation C1969756 16 Feb 2016 Disease Synovium cancer MONDO C1334624 MONDO:0002403 17 Apr 2020 Disease Synovium disease MONDO C0263945 MONDO:0056799 17 Apr 2020 Disease Synovium neoplasm MONDO C0476203 MONDO:0002528 17 Apr 2020 Disease synpolydactyly CN238761 19 Oct 2016 Finding Synpolydactyly 1 NCBI curation C2699746 186000 24 May 2017 Disease Synpolydactyly 2 NCBI curation C1842422 608180 16 Feb 2016 Disease Synpolydactyly 3 NCBI curation C1853255 610234 16 Feb 2016 Disease Synpolydactyly with foot anomalies NCBI curation C1861368 16 Feb 2016 Disease Synucleinopathy MONDO C5191670 MONDO:0000510 17 Apr 2020 Disease Syphilis MONDO C0039128 MONDO:0005976 04 Jun 2020 Infectious disease Syphilitic aortitis MONDO C0003511 MONDO:0006992 04 Jun 2020 Infectious disease Syphilitic encephalitis MONDO C0153168 MONDO:0000937 04 Jun 2020 Infectious disease Syphilitic meningitis C0153166 16 Feb 2016 Infectious disease Syringobulbia 16 Feb 2016 Disease Syringocystadenoma papilliferum C0406803 16 Feb 2016 Disease Syringoma MONDO C0206673 MONDO:0002191 17 Apr 2020 Disease Syringomas natal teeth oligodontia 16 Feb 2016 Disease Syringomas, multiple NCBI curation C1861302 186600 16 Feb 2016 Disease Syringomelia hyperkeratosis 16 Feb 2016 Disease Syringomyelia Human Phenotype Ontology C0039144 HP:0003396 16 Feb 2016 Finding syringomyelia syringobulbia 05 Sep 2019 Finding Syringomyelia, isolated NCBI curation C4538540 186700 16 Feb 2016 Disease Systemic autoimmune disease MONDO C2895206 MONDO:0015939 17 Apr 2020 Disease Systemic basidiobolomycosis MONDO C0343967 MONDO:0045039 04 Jun 2020 Infectious disease Systemic candidiasis 16 Feb 2016 Disease Systemic capillary leak syndrome 16 Feb 2016 Disease Systemic disease with cataract MONDO C0339369 MONDO:0020227 17 Apr 2020 Disease Systemic disease with skin involvement MONDO CN203041 MONDO:0017368 17 Apr 2020 Disease Systemic diseases with anterior uveitis MONDO CN202777 MONDO:0017259 17 Apr 2020 Disease Systemic diseases with panuveitis MONDO CN202779 MONDO:0017261 17 Apr 2020 Disease Systemic diseases with posterior uveitis MONDO CN202778 MONDO:0017260 17 Apr 2020 Disease Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood MONDO C4303422 MONDO:0018223 17 Apr 2020 Disease Systemic inflammatory disease associated with an acquired peripheral neuropathy MONDO CN200929 MONDO:0016177 17 Apr 2020 Disease systemic inflammatory response syndrome 05 Sep 2019 Disease Systemic lupus erythematosus Human Phenotype Ontology C0024141 HP:0002725 152700 16 Feb 2016 Disease Systemic lupus erythematosus 1 NCBI curation C1866373 601744 16 Feb 2016 Disease Systemic lupus erythematosus 10 NCBI curation C2677097 612251 16 Feb 2016 Disease Systemic lupus erythematosus 11 NCBI curation C2677096 612253 16 Feb 2016 Disease Systemic lupus erythematosus 12 NCBI curation C2677095 612254 16 Feb 2016 Disease Systemic lupus erythematosus 13 NCBI curation C2676487 612378 16 Feb 2016 Disease Systemic lupus erythematosus 14 NCBI curation C2751054 613145 16 Feb 2016 Disease Systemic lupus erythematosus 15 NCBI curation C2749008 300809 16 Feb 2016 Disease Systemic lupus erythematosus 16 NCBI curation C3280742 614420 16 Feb 2016 Disease Systemic lupus erythematosus 2 NCBI curation C1854577 605218 16 Feb 2016 Disease Systemic lupus erythematosus 3 NCBI curation C1854235 605480 16 Feb 2016 Disease Systemic lupus erythematosus 4 NCBI curation C1842057 608437 16 Feb 2016 Disease Systemic lupus erythematosus 5 NCBI curation C1835929 609903 16 Feb 2016 Disease Systemic lupus erythematosus 6 NCBI curation C1835919 609939 16 Feb 2016 Disease Systemic lupus erythematosus 7 NCBI curation C1864732 610065 16 Feb 2016 Disease Systemic lupus erythematosus 8 NCBI curation C1864731 610066 16 Feb 2016 Disease Systemic lupus erythematosus 9 NCBI curation C1970455 610927 16 Feb 2016 Disease Systemic lupus erythematosus with hemolytic anemia 1 NCBI curation C1846533 607279 16 Feb 2016 Disease Systemic lupus erythematosus with nephritis 1 NCBI curation C1842757 607965 16 Feb 2016 Disease Systemic lupus erythematosus with nephritis 2 NCBI curation C1842756 607966 16 Feb 2016 Disease Systemic lupus erythematosus with nephritis 3 NCBI curation C1842755 607967 16 Feb 2016 Disease Systemic lupus erythematosus, association wit 10 NCBI curation 16 Feb 2016 Disease Systemic lupus erythematosus, association wit 2 NCBI curation 16 Feb 2016 Disease Systemic lupus erythematosus, resistance to, 1 NCBI curation C1864265 16 Feb 2016 Disease Systemic lupus erythematosus, susceptibility to NCBI curation C3862275 16 Feb 2016 Disease Systemic lupus erythmatosus, association with NCBI curation 16 Feb 2016 Disease Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease MONDO C1301365 MONDO:0020332 17 Apr 2020 Disease Systemic monochloroacetate poisoning MONDO MONDO:0019545 17 Apr 2020 Disease Systemic mycosis MONDO C0553576 MONDO:0000256 04 Jun 2020 Infectious disease Systemic necrotizing angitis 16 Feb 2016 Disease Systemic or rheumatic disease MONDO CN206945 MONDO:0020012 17 Apr 2020 Disease Systemic polyarteritis nodosa MONDO CN242146 MONDO:0018596 17 Apr 2020 Disease Systemic sclerosis sine scleroderma 16 Feb 2016 Disease Systolic heart failure MONDO C1135191 MONDO:0006993 22 Apr 2020 Disease SYT1-associated neurodevelopmental disorder 09 Nov 2018 Finding T cell immunodeficiency primary 16 Feb 2016 Disease T Lymphoblastic Leukemia/Lymphoma NCBI curation C1301359 15 Mar 2019 Disease T+ B+ severe combined immunodeficiency MONDO CN229151 MONDO:0044201 17 Apr 2020 Disease T-B+ severe combined immunodeficiency MONDO CN229113 MONDO:0044200 17 Apr 2020 Disease T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta MONDO CN200208 MONDO:0015703 17 Apr 2020 Disease T-B- severe combined immunodeficiency MONDO CN229114 MONDO:0017855 17 Apr 2020 Disease T-box 24 NCBI curation C1846888 607044 16 Feb 2016 Disease T-cell acute lymphoblastic leukemia NCBI curation C1961099 16 Feb 2016 Disease T-cell adult acute lymphocytic leukemia MONDO C0279592 MONDO:0003539 17 Apr 2020 Disease T-cell and NK-cell neoplasm MONDO C1336554 MONDO:0024615 17 Apr 2020 Disease T-cell childhood acute lymphocytic leukemia MONDO C0279583 MONDO:0000871 17 Apr 2020 Disease T-cell childhood lymphoblastic lymphoma MONDO C1332998 MONDO:0000874 17 Apr 2020 Disease T-cell chronic lymphocytic lymphoma/leukemia Human Phenotype Ontology C4025181 HP:0005539 16 Feb 2016 Finding T-cell immunodeficiency MONDO C1274233 MONDO:0003780 17 Apr 2020 Disease T-cell immunodeficiency with epidermodysplasia verruciformis Orphanet C4749500 ORPHA324294 26 Dec 2017 Disease T-cell immunodeficiency, congenital alopecia, and nail dystrophy MONDO C1866426 MONDO:0011132 601705 22 Apr 2020 Disease T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations NCBI curation C3553943 614868 16 Feb 2016 Disease T-cell large granular lymphocyte leukemia MONDO C1955861 MONDO:0019469 17 Apr 2020 Disease T-cell leukemia MONDO C0023492 MONDO:0005525 17 Apr 2020 Disease T-cell lymphoma Human Phenotype Ontology C0079772 HP:0012190 16 Feb 2016 Finding T-cell lymphoma 1A 16 Feb 2016 Disease T-cell lymphoma/leukemia Human Phenotype Ontology C4025186 HP:0005517 16 Feb 2016 Finding T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT OMIM CN263366 618806 618806 15 Mar 2020 Disease T-CELL LYMPHOPENIA, INFANTILE, WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT 15 Mar 2020 Disease T-cell prolymphocytic leukemia NCBI curation C2363142 16 Feb 2016 Disease T-cell receptor alpha/beta deficiency NCBI curation C3809332 615387 16 Feb 2016 Disease T-cell subgroups, non-hla-linked NCBI curation C1861277 186950 16 Feb 2016 Disease T-cell/histiocyte rich large B cell lymphoma MONDO C1321547 MONDO:0017597 17 Apr 2020 Disease T-complex locus tcp10b NCBI curation C1861271 187030 16 Feb 2016 Disease T-lymphoblastic lymphoma MONDO MONDO:0044917 17 Apr 2020 Disease T-lymphocyte deficiency C2752083 242700 16 Feb 2016 Disease T-Lymphocytopenia 16 Feb 2016 Disease T-shaped uterus Human Phenotype Ontology C4476975 HP:0031106 04 Apr 2018 Finding T-substance anomaly NCBI curation C1848724 276200 16 Feb 2016 Disease T-wave alternans Human Phenotype Ontology C1998313 HP:0012266 16 Feb 2016 Finding T-wave inversion Human Phenotype Ontology C0520888 HP:0010872 02 Apr 2017 Finding T-wave inversion in the right precordial leads Human Phenotype Ontology C4025646 HP:0003140 16 Feb 2016 Finding T2 hypointense basal ganglia Human Phenotype Ontology C4022743 HP:0012753 16 Feb 2016 Finding T2 hypointense brainstem Human Phenotype Ontology C4022746 HP:0012750 16 Feb 2016 Finding T2 hypointense thalamus Human Phenotype Ontology C4022776 HP:0012690 16 Feb 2016 Finding TAAD Family History 05 Apr 2018 Finding Tabes dorsalis MONDO C0039223 MONDO:0005977 17 Apr 2020 Infectious disease Tachycardia Human Phenotype Ontology C0039231 HP:0001649 16 Feb 2016 Finding Tachycardia (with pheochromocytoma) C1854347 16 Feb 2016 Finding Tachycardia after delivery CN235232 19 Feb 2016 Finding Tachycardia hypertension microphthalmia and hyperglycinuria 16 Feb 2016 Disease Tachypnea Human Phenotype Ontology C0231835 HP:0002789 16 Feb 2016 Finding Tacrolimus response NCBI curation C3547403 16 Feb 2016 Pharmacological response tacrolimus response (donor genotype) - Dosage, Metabolism/PK PharmGKB 981203719PA451578 06 Jul 2018 Pharmacological response tacrolimus response (recipient genotype) - Dosage, Metabolism/PK PharmGKB 982046323PA451578 06 Jul 2018 Pharmacological response tacrolimus response - Dosage PharmGKB CN236545 655387058 18 May 2016 Pharmacological response tacrolimus response - Dosage, Metabolism/PK PharmGKB CN236535 981203719 18 May 2016 Pharmacological response tacrolimus response - Efficacy PharmGKB CN236583 981203808 18 May 2016 Pharmacological response tacrolimus response due to donor genotype - Dosage, Metabolism/PK PharmGKB CN236528 982046323 18 May 2016 Pharmacological response Tactile agnosia MONDO MONDO:0000681 17 Apr 2020 Disease Tactile epilepsy MONDO C0393724 MONDO:0002340 17 Apr 2020 Disease Taeniasis MONDO C0039254 MONDO:0000367 04 Jun 2020 Infectious disease Tafenoquine response NCBI curation CN262925 29 Nov 2019 Pharmacological response TAFRO syndrome NCBI curation CN262184 14 Aug 2019 Disease Takayasu arteritis C0039263 207600 16 Feb 2016 Disease Takenouchi-Kosaki syndrome NCBI curation C4225222 616737 16 Feb 2016 Disease Takotsubo cardiomyopathy Human Phenotype Ontology C1739395 HP:0011665 16 Feb 2016 Finding Talipes Human Phenotype Ontology C1301937 HP:0001883 16 Feb 2016 Finding Talipes calcaneovalgus Human Phenotype Ontology C0152237 HP:0001884 16 Feb 2016 Finding Talipes calcaneovarus Human Phenotype Ontology C0265646 HP:0008124 16 Feb 2016 Finding Talipes cavus equinovarus Human Phenotype Ontology C1832342 HP:0004696 16 Feb 2016 Finding Talipes equinovalgus Human Phenotype Ontology C0265642 HP:0001772 16 Feb 2016 Finding Talipes valgus Human Phenotype Ontology C0152236 HP:0004684 16 Feb 2016 Finding Talipes varus C4551569 01 Aug 2019 Finding Tall cell variant thyroid gland papillary carcinoma MONDO C1336695 MONDO:0004103 17 Apr 2020 Disease Tall chin Human Phenotype Ontology C4021875 HP:0400000 16 Feb 2016 Finding Tall lumbar vertebral bodies Human Phenotype Ontology C1863313 HP:0008421 16 Feb 2016 Finding Tall stature Human Phenotype Ontology C0241240 HP:0000098 16 Feb 2016 Finding Talo-patello-scaphoid osteolysis MONDO C1864784 MONDO:0012330 609655 17 Apr 2020 Disease Talocalcaneal synostosis Human Phenotype Ontology C4025155 HP:0005682 16 Feb 2016 Finding Talon cusp Human Phenotype Ontology C0399357 HP:0011087 16 Feb 2016 Finding Talonavicular coalition C1861296 186750 16 Feb 2016 Disease Talus valgus C3552501 13 May 2016 Finding Tamoxifen response NCBI curation CN078013 16 Feb 2016 Pharmacological response tamoxifen response - Efficacy PharmGKB 1446897383PA451581 06 Jul 2018 Pharmacological response tamoxifen response - Efficacy, Toxicity/ADR PharmGKB CN236584 655384698 18 May 2016 Pharmacological response Tamoxifen-related endometrial lesion MONDO C1515212 MONDO:0004414 17 Apr 2020 Disease Tamsulosin Response CN282577 17 Jun 2020 Pharmacological response Tang Hsi Ryu syndrome 16 Feb 2016 Disease Tangier disease C0039292 205400 16 Feb 2016 Disease Tangier disease, variant NCBI curation 16 Feb 2016 Disease TANGO2-Related disorder 13 Oct 2017 Disease tantrums 05 Sep 2019 Finding Tanycytic ependymoma MONDO C1370500 MONDO:0003474 17 Apr 2020 Disease TAP1 deficiency, somatic NCBI curation C4016311 06 Mar 2016 Disease Tapentadol response NCBI curation CN185911 16 Feb 2016 Pharmacological response Tapered distal phalanges of finger Human Phenotype Ontology C1969237 HP:0009884 16 Feb 2016 Finding Tapered finger Human Phenotype Ontology C0426886 HP:0001182 16 Feb 2016 Finding Tapered humerus Human Phenotype Ontology C4025531 HP:0003883 16 Feb 2016 Finding Tapered metacarpals Human Phenotype Ontology C4025091 HP:0006108 16 Feb 2016 Finding Tapered phalanx of finger Human Phenotype Ontology C4025084 HP:0006192 16 Feb 2016 Finding Tapered toe Human Phenotype Ontology C4021167 HP:0011309 16 Feb 2016 Finding Tapering pointed ends of distal finger phalanges Human Phenotype Ontology C4025078 HP:0006224 16 Feb 2016 Finding Tapetoretinal degeneration with ataxia NCBI curation C1848932 272600 16 Feb 2016 Disease TaqI POLYMORPHISM C1839238 16 Feb 2016 Disease TAR-like 25 Oct 2019 Finding TARDBP-related frontotemporal dementia NCBI curation C3150169 16 Feb 2016 Disease Tardive dyskinesia Human Phenotype Ontology C0686347 HP:0040141 272620 16 Feb 2016 Disease TARP syndrome C1839463 311900 16 Feb 2016 Disease Tarsal coalition NCBI curation C1406822 186850 24 Aug 2016 Disease Tarsal kink syndrome MONDO CN207325 MONDO:0020462 17 Apr 2020 Disease Tarsal osteovalgus Human Phenotype Ontology C4025748 HP:0001775 16 Feb 2016 Finding Tarsal sclerosis Human Phenotype Ontology C4476932 HP:0031051 04 Apr 2018 Finding Tarsal stippling Human Phenotype Ontology C1844848 HP:0008131 16 Feb 2016 Finding Tarsal synostosis Human Phenotype Ontology C0265654 HP:0008368 16 Feb 2016 Finding Tarsal tunnel syndrome C0039319 16 Feb 2016 Disease Tarsal-carpal coalition syndrome MONDO C1861305 MONDO:0008521 186570 22 Apr 2020 Disease Tarsometatarsal synostosis Human Phenotype Ontology C4022144 HP:0100329 16 Feb 2016 Finding Tatsumi factor deficiency NCBI curation C1848931 272650 16 Feb 2016 Disease Tatton-Brown-rahman syndrome NCBI curation C4014545 615879 16 Feb 2016 Disease TAU syndrome C2931372 16 Feb 2016 Disease Tauopathy MONDO C0949664 MONDO:0005574 17 Apr 2020 Disease Taurodontia-absent teeth-sparse hair syndrome MONDO C1848909 MONDO:0010102 272980 17 Apr 2020 Disease Taurodontism Human Phenotype Ontology C0266039 HP:0000679 272700 10 Apr 2018 Disease Taurodontism, microdontia, and dens invaginatus C1839235 313490 16 Feb 2016 Disease TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy 13 Dec 2018 Finding Tay-Sachs disease C0039373 272800 16 Feb 2016 Disease Tay-Sachs disease, b variant, infantile form MONDO CN203620 MONDO:0017724 17 Apr 2020 Disease Tay-Sachs disease, b variant, juvenile form MONDO CN203621 MONDO:0017725 17 Apr 2020 Disease Tay-Sachs disease, B1 variant NCBI curation C1848916 16 Feb 2016 Disease Tay-sachs disease, juvenile NCBI curation C1848913 16 Feb 2016 Disease Tay-sachs disease, juvenile/adult NCBI curation 16 Feb 2016 Disease Tay-Sachs disease, pseudo-AB variant NCBI curation C1848917 16 Feb 2016 Disease Tay-Sachs disease, variant AB NCBI curation C0268275 272750 16 Feb 2016 Disease Taylor syndrome MONDO C0152078 MONDO:0004762 17 Apr 2020 Disease TBX2-related condition 27 Apr 2018 Finding TCF20-related condition 09 Nov 2018 Disease TCTN2-Related Disorders CN239412 02 Dec 2016 Disease TCTN2-Related Joubert Syndrome CN229797 16 Feb 2016 Disease Tear protein, anodal NCBI curation C1861283 186890 16 Feb 2016 Disease Teebi Kaurah syndrome 16 Feb 2016 Disease Teebi Naguib Al Awadi syndrome 16 Feb 2016 Disease Teebi-Shaltout syndrome MONDO C1848912 MONDO:0010101 272950 22 Apr 2020 Disease Teeth, odd shapes of NCBI curation C1861274 187000 24 Aug 2016 Disease Teeth, supernumerary MONDO C0040457 MONDO:0008533 187100 22 Apr 2020 Disease Tegafur response NCBI curation C1852514 16 Feb 2016 Pharmacological response tegafur response - Toxicity/ADR PharmGKB CN236622 981204941 18 May 2016 Pharmacological response tegafur response - Toxicity/ADR, Metabolism/PK PharmGKB CN240607 827843617 17 Feb 2017 Pharmacological response Tegumentary leishmaniasis susceptibility Human Phenotype Ontology C2748501 HP:0007408 602068 16 Feb 2016 Finding Tel Hashomer camptodactyly syndrome C1859356 211960 16 Feb 2016 Disease Telangiectases in sun-exposed and nonexposed skin Human Phenotype Ontology C1868184 HP:0007561 16 Feb 2016 Finding Telangiectases of the cheeks Human Phenotype Ontology C3554587 HP:0007421 16 Feb 2016 Finding Telangiectases producing 'marbled' skin Human Phenotype Ontology C4024839 HP:0007586 16 Feb 2016 Finding Telangiectasia Human Phenotype Ontology C0039446 HP:0001009 16 Feb 2016 Finding Telangiectasia macularis eruptiva perstans Human Phenotype Ontology C0263402 HP:0007583 16 Feb 2016 Finding Telangiectasia of extensor surfaces Human Phenotype Ontology C4024827 HP:0007621 16 Feb 2016 Finding Telangiectasia of the ear Human Phenotype Ontology C4024169 HP:0009893 16 Feb 2016 Finding Telangiectasia of the oral mucosa Human Phenotype Ontology C4024882 HP:0007428 16 Feb 2016 Finding Telangiectasia of the skin Human Phenotype Ontology C4022018 HP:0100585 02 Apr 2017 Finding Telangiectasia, hereditary hemorrhagic, type 2 MONDO C1838163 MONDO:0010880 600376 22 Apr 2020 Disease Telangiectasia, hereditary hemorrhagic, type 5 NCBI curation C3809710 615506 16 Feb 2016 Disease Telangiectatic glomangioma MONDO C1336699 MONDO:0003747 17 Apr 2020 Disease Telangiectatic osteogenic sarcoma MONDO C0259782 MONDO:0004050 17 Apr 2020 Disease Telaprevir response CN078014 16 Feb 2016 Pharmacological response Telecanthus NCBI curation C0423113 187350 16 Feb 2016 Disease Telecanthus-hypertelorism-strabismus-pes cavus syndrome MONDO CN204205 MONDO:0017997 17 Apr 2020 Disease Telencephalic leukoencephalopathy 16 Feb 2016 Disease Telogen effluvium Human Phenotype Ontology C0263518 HP:0025470 04 Apr 2018 Finding Telomere length, mean leukocyte NCBI curation C1836777 609113 16 Feb 2016 Finding temper tantrum 05 Sep 2019 Finding temper tantrums 05 Sep 2019 Finding Temperature instability Human Phenotype Ontology C1820737 HP:0005968 16 Feb 2016 Finding temperature sensitive nonsyndromic auditory neuropathy CN860313 13 Mar 2018 Disease Temperature sensitivity complementation, cell cycle specific, h142 NCBI curation C1861252 187290 16 Feb 2016 Disease Temperature sensitivity complementation, cell cycle specific, k12 NCBI curation C1416535 187310 16 Feb 2016 Disease TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, ts13 OMIM C1861244 187320 187320 16 Feb 2016 Disease TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, ts546 OMIM C1861243 187330 187330 16 Feb 2016 Disease TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, tsBN51 OMIM CN033318 187280 187280 16 Feb 2016 Finding Temperature-sensitive af8 complement NCBI curation C1861765 116950 16 Feb 2016 Disease Temperature-sensitive lethal mutation NCBI curation C1861242 187340 16 Feb 2016 Disease Tempi syndrome MONDO C3854394 MONDO:0017286 17 Apr 2020 Disease Temple syndrome NCBI curation C4015558 616222 24 Aug 2016 Disease Temple-Baraitser syndrome NCBI curation C2678486 611816 16 Feb 2016 Disease Temporal arteritis C1956391 187360 16 Feb 2016 Disease Temporal artery tortuosity Human Phenotype Ontology C4022602 HP:0030165 16 Feb 2016 Finding Temporal cortical atrophy Human Phenotype Ontology C4024936 HP:0007112 16 Feb 2016 Finding Temporal hypotrichosis Human Phenotype Ontology C4025316 HP:0004524 16 Feb 2016 Finding Temporal lobe cancer MONDO C0153636 MONDO:0002218 17 Apr 2020 Disease Temporal optic disc pallor Human Phenotype Ontology C0344299 HP:0012511 16 Feb 2016 Finding Temporomandibular ankylosis 16 Feb 2016 Disease Temporomandibular arthritis Human Phenotype Ontology C0685926 HP:0040312 04 Apr 2018 Finding Temporomandibular joint ankylosis Human Phenotype Ontology C2931375 HP:0012478 16 Feb 2016 Finding Temporomandibular joint anomaly MONDO CN226883 MONDO:0016221 17 Apr 2020 Disease Temporomandibular joint crepitus Human Phenotype Ontology C0575154 HP:0012479 16 Feb 2016 Finding Temporomandibular joint disorder MONDO C0039494 MONDO:0005473 17 Apr 2020 Disease Temporomandibular joint dysfunction syndrome MONDO C0039496 MONDO:0021895 17 Apr 2020 Disease Temtamy preaxial brachydactyly syndrome C1854466 605282 16 Feb 2016 Disease Temtamy syndrome C1857512 218340 16 Feb 2016 Disease Tendinitis 19 Jul 2019 Disease Tendinopathy MONDO MONDO:0100010 17 Apr 2020 Disease Tendinosis MONDO C1568363 MONDO:0100011 17 Apr 2020 Disease tendon hyperreflexia 25 Jan 2019 Finding Tendon rupture Human Phenotype Ontology C0151937 HP:0100550 16 Feb 2016 Finding Tendon sheath disorder MONDO C0729734 MONDO:0024876 17 Apr 2020 Disease Tendon sheath fibroma MONDO C1275236 MONDO:0006442 17 Apr 2020 Disease Tendon sheath lipoma MONDO C1336703 MONDO:0004076 17 Apr 2020 Disease Tendon xanthoma CN241842 07 Apr 2017 Finding Tendon xanthomatosis Human Phenotype Ontology C0221253 HP:0010874 16 Feb 2016 Finding Tendonitis Human Phenotype Ontology C0039503 HP:0025230 02 Apr 2017 Finding Tenesmus Human Phenotype Ontology C0232726 HP:0012702 16 Feb 2016 Finding tenofovir response - PharmGKB CN236623 655385159 18 May 2016 Pharmacological response tenofovir response - Metabolism/PK PharmGKB 655385159PA10204 06 Jul 2018 Pharmacological response Tenorio syndrome NCBI curation C4015710 616260 16 Feb 2016 Disease Tenosynovial giant cell tumor MONDO C1318543 MONDO:0002522 17 Apr 2020 Disease Tenosynovial giant cell tumor, localized type MONDO C0588125 MONDO:0002399 17 Apr 2020 Disease Tenosynovitis MONDO C0039520 MONDO:0004855 17 Apr 2020 Disease Tenosynovitis of foot and ankle MONDO MONDO:0002517 17 Apr 2020 Disease Tension-type headache Human Phenotype Ontology C0033893 HP:0012228 16 Feb 2016 Finding Tented eyebrows NCBI curation C1969624 611426 16 Feb 2016 Disease Tented philtrum Human Phenotype Ontology C4021119 HP:0011825 16 Feb 2016 Finding Tented upper lip and high palate 23 Jan 2020 Finding Tented upper lip vermilion Human Phenotype Ontology C1839767 HP:0010804 16 Feb 2016 Finding Teratocarcinoma MONDO C0206664 MONDO:0002599 17 Apr 2020 Disease Teratogenic Pierre Robin syndrome MONDO CN199294 MONDO:0015323 17 Apr 2020 Disease Teratoid tumor, atypical NCBI curation C1836326 16 Feb 2016 Disease Teratoma Human Phenotype Ontology C0039538 HP:0009792 16 Feb 2016 Disease Teratoma with malignant transformation MONDO C0334523 MONDO:0006444 17 Apr 2020 Disease Teratoma, pineal NCBI curation C1848902 273120 16 Feb 2016 Disease Terbinafine response CN078015 16 Feb 2016 Pharmacological response Terminal insomnia Human Phenotype Ontology C0541798 HP:0031356 04 Apr 2018 Finding Terminal osseous dysplasia NCBI curation C1846129 300244 16 Feb 2016 Disease Terminal transverse defects of arm NCBI curation C1857578 16 Feb 2016 Disease terminal transverse limb defects 13 Oct 2017 Finding terminal transverse limb defects with syndactyly 13 Oct 2017 Finding Terrien marginal degeneration MONDO C0271283 MONDO:0033818 17 Apr 2020 Disease TERT-associated disorder 13 Oct 2017 Disease TERT-Related Disorders 23 May 2019 Disease Tertiary hyperparathyroidism Human Phenotype Ontology C0271858 HP:0011770 16 Feb 2016 Finding Tertiary lesion of yaws MONDO C0343833 MONDO:0042452 04 Jun 2020 Infectious disease Tertiary syphilis MONDO C0153188 MONDO:0004497 04 Jun 2020 Infectious disease Tessier number 0 facial cleft Human Phenotype Ontology C4552109 HP:0031570 04 Apr 2018 Finding Tessier number 1 facial cleft Human Phenotype Ontology C4703417 HP:0031572 04 Apr 2018 Finding Tessier number 10 facial cleft Human Phenotype Ontology C4703423 HP:0031582 04 Apr 2018 Finding Tessier number 11 facial cleft Human Phenotype Ontology C4703424 HP:0031583 04 Apr 2018 Finding Tessier number 12 facial cleft Human Phenotype Ontology C4703425 HP:0031584 04 Apr 2018 Finding Tessier number 13 facial cleft Human Phenotype Ontology C4703426 HP:0031585 04 Apr 2018 Finding Tessier number 14 facial cleft Human Phenotype Ontology C4552110 HP:0031586 04 Apr 2018 Finding Tessier number 2 facial cleft Human Phenotype Ontology C4703418 HP:0031573 04 Apr 2018 Finding Tessier number 3 facial cleft Human Phenotype Ontology C4703419 HP:0031575 04 Apr 2018 Finding Tessier number 30 facial cleft Human Phenotype Ontology C4703427 HP:0031587 04 Apr 2018 Finding Tessier number 4 facial cleft Human Phenotype Ontology C4703420 HP:0031576 04 Apr 2018 Finding Tessier number 5 facial cleft Human Phenotype Ontology C4703421 HP:0031577 04 Apr 2018 Finding Tessier number 6 facial cleft Human Phenotype Ontology C4552112 HP:0031578 04 Apr 2018 Disease Tessier number 7 facial cleft Human Phenotype Ontology C4552111 HP:0031579 04 Apr 2018 Finding Tessier number 8 facial cleft Human Phenotype Ontology C4552113 HP:0031580 04 Apr 2018 Finding Tessier number 9 facial cleft Human Phenotype Ontology C4703422 HP:0031581 04 Apr 2018 Finding Tested for Leopard Syndrome NCBI curation CN235525 15 Mar 2016 Finding Testes, rudimentary NCBI curation C1848901 273150 16 Feb 2016 Disease testicle with slight increase in size 22 Aug 2019 Finding Testicular adrenal rest tumor Human Phenotype Ontology C4476786 HP:0025451 04 Apr 2018 Finding Testicular agenesis MONDO C0405582 MONDO:0017967 17 Apr 2020 Disease Testicular anomalies with or without congenital heart disease NCBI curation C3809858 615542 16 Feb 2016 Disease Testicular atrophy Human Phenotype Ontology C0156312 HP:0000029 16 Feb 2016 Finding Testicular Brenner tumor MONDO C1515281 MONDO:0003118 17 Apr 2020 Disease Testicular cancer, childhood 16 Feb 2016 Disease Testicular disease MONDO C0039584 MONDO:0002329 17 Apr 2020 Disease Testicular dysgenesis Human Phenotype Ontology C0302885 HP:0008715 16 Feb 2016 Finding Testicular dysgenesis syndrome MONDO C2919755 MONDO:0005437 17 Apr 2020 Disease Testicular embryonal carcinoma MONDO C0238448 MONDO:0006446 17 Apr 2020 Disease Testicular fibroma MONDO C1515282 MONDO:0004324 17 Apr 2020 Disease Testicular fibrosis Human Phenotype Ontology C4021061 HP:0012860 16 Feb 2016 Finding Testicular germ cell tumor NCBI curation 16 Feb 2016 Disease Testicular germ cell tumor 1 NCBI curation C1846164 300228 16 Feb 2016 Disease Testicular gonadoblastoma Human Phenotype Ontology C1515283 HP:0000030 16 Feb 2016 Finding Testicular granulosa cell tumor MONDO C1336709 MONDO:0003395 17 Apr 2020 Disease testicular hypofunction C0271622 14 Mar 2019 Finding Testicular infarct MONDO C0392041 MONDO:0003279 17 Apr 2020 Disease Testicular leukemia MONDO C1336711 MONDO:0001482 17 Apr 2020 Disease Testicular Leydig cell tumor MONDO C0863027 MONDO:0003124 17 Apr 2020 Disease Testicular lipomatosis Human Phenotype Ontology C4477096 HP:0025476 04 Apr 2018 Finding Testicular lymphoma MONDO C0349644 MONDO:0001472 17 Apr 2020 Disease Testicular mesothelioma Human Phenotype Ontology C4022391 HP:0100005 16 Feb 2016 Finding Testicular microlithiasis Human Phenotype Ontology C1864873 HP:0012215 610441 16 Feb 2016 Disease Testicular monophasic choriocarcinoma MONDO C1515290 MONDO:0003966 17 Apr 2020 Disease Testicular neoplasm Human Phenotype Ontology C0039590 HP:0010788 16 Feb 2016 Finding Testicular Neoplasms PharmGKB 06 Jul 2018 Disease Testicular non-seminomatous germ cell cancer MONDO C1334625 MONDO:0003403 17 Apr 2020 Disease Testicular pure germ cell tumor MONDO C1514608 MONDO:0002874 17 Apr 2020 Disease Testicular seminoma Human Phenotype Ontology C0036631 HP:0100617 19 Mar 2018 Disease Testicular teratoma Human Phenotype Ontology C0238451 HP:0100616 04 Apr 2018 Disease Testicular teratoma (disease) MONDO MONDO:0006448 17 Apr 2020 Disease Testicular thecoma MONDO C1515299 MONDO:0004325 17 Apr 2020 Disease Testicular torsion Human Phenotype Ontology C0037856 HP:0100813 187400 16 Feb 2016 Disease Testicular trophoblastic tumor MONDO C1515301 MONDO:0002871 17 Apr 2020 Disease Testicular yolk sac tumor MONDO C0279708 MONDO:0003402 17 Apr 2020 Disease Testicular yolk sac tumor, endodermal sinus pattern MONDO C1515303 MONDO:0004178 17 Apr 2020 Disease Testicular yolk sac tumor, glandular-alveolar pattern MONDO C1515305 MONDO:0004402 17 Apr 2020 Disease Testicular yolk sac tumor, hepatoid pattern MONDO C1515306 MONDO:0004494 17 Apr 2020 Disease Testicular yolk sac tumor, macrocystic pattern MONDO C1515307 MONDO:0004106 17 Apr 2020 Disease Testicular yolk sac tumor, myxomatous pattern MONDO C1515309 MONDO:0004453 17 Apr 2020 Disease Testicular yolk sac tumor, papillary pattern MONDO C1515310 MONDO:0004493 17 Apr 2020 Disease Testicular yolk sac tumor, solid pattern MONDO C1515312 MONDO:0004198 17 Apr 2020 Disease Testis polyembryoma MONDO C1514200 MONDO:0004442 17 Apr 2020 Disease Testis refractory cancer MONDO C1377904 MONDO:0004401 17 Apr 2020 Disease Testis rhabdomyosarcoma MONDO C1336726 MONDO:0002860 17 Apr 2020 Disease Testis sarcoma MONDO C1336727 MONDO:0002861 17 Apr 2020 Disease Testosterone 17-beta-dehydrogenase deficiency C0268296 264300 16 Feb 2016 Disease Testosterone circulating level quantitative trait locus, due to sex hormone-binding globulin NCBI curation 16 Feb 2016 Disease Tetanic cataract MONDO C0039613 MONDO:0001811 17 Apr 2020 Disease Tetanus C0039614 16 Feb 2016 Infectious disease Tetanus neonatorum MONDO C0343312 MONDO:0001737 04 Jun 2020 Infectious disease Tetany Human Phenotype Ontology C0039621 HP:0001281 16 Feb 2016 Finding Tethered cord Human Phenotype Ontology C0080218 HP:0002144 16 Feb 2016 Finding tethered spinal cord 18 Jan 2019 Finding Tethered spinal cord syndrome MONDO MONDO:0006995 17 Apr 2020 Disease Tetraamelia Human Phenotype Ontology C2931216 HP:0003057 16 Feb 2016 Finding TETRAAMELIA SYNDROME 2 OMIM C4747923 618021 618021 24 Jun 2018 Disease Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities C2931214 273390 16 Feb 2016 Disease Tetraamelia with pulmonary hypoplasia 16 Feb 2016 Disease Tetraamelia, autosomal recessive NCBI curation C4012268 273395 16 Feb 2016 Disease Tetraamelia-multiple malformations syndrome MONDO C2931218 MONDO:0010110 17 Apr 2020 Disease Tetrabenazine response CN078016 16 Feb 2016 Pharmacological response Tetragametic chimerism MONDO CN200724 MONDO:0016045 17 Apr 2020 Disease Tetrahydrobiopterin metabolic process disease MONDO C0342676 MONDO:0045014 17 Apr 2020 Disease Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria MONDO CN203120 MONDO:0017389 17 Apr 2020 Disease Tetralogy of Fallot Human Phenotype Ontology C0039685 HP:0001636 187500 16 Feb 2016 Disease Tetralogy of fallot and glaucoma C1861234 187501 16 Feb 2016 Disease Tetralogy of Fallot MedGen UID:21498 22 Jun 2020 Finding Tetralogy of fallot syndrome, autosomal recessive NCBI curation C1854119 605618 16 Feb 2016 Disease Tetralogy of Fallot with absent pulmonary valve Human Phenotype Ontology C1302264 HP:0011659 16 Feb 2016 Finding Tetralogy of Fallot with absent subarterial conus Human Phenotype Ontology C4023236 HP:0011676 16 Feb 2016 Finding Tetralogy of Fallot with atrioventricular canal defect Human Phenotype Ontology C4023235 HP:0011677 16 Feb 2016 Finding Tetralogy of Fallot with pulmonary atresia Human Phenotype Ontology C0344882 HP:0012516 16 Feb 2016 Finding Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries Human Phenotype Ontology C4023234 HP:0011678 16 Feb 2016 Finding Tetralogy of Fallot with pulmonary stenosis Human Phenotype Ontology C0344881 HP:0011679 16 Feb 2016 Finding Tetralogy of Fallot; single umbilical artery; absent thumb; abnormality of the vertebrae 16 Feb 2016 Finding tetraology of fallot CN243979 11 May 2017 Finding Tetraparesis Human Phenotype Ontology C0270790 HP:0002273 16 Feb 2016 Finding Tetraphocomelia Human Phenotype Ontology C1849370 HP:0030721 02 Apr 2017 Finding Tetraphocomelia-thrombocytopenia syndrome NCBI curation 16 Feb 2016 Disease Tetraplegia Human Phenotype Ontology C0034372 HP:0002445 16 Feb 2016 Finding Tetraplegia/tetraparesis Human Phenotype Ontology C4022595 HP:0030182 16 Feb 2016 Finding Tetraploidy syndrome MONDO C0795884 MONDO:0018026 17 Apr 2020 Disease Tetrasomy MONDO C0333689 MONDO:0030502 17 Apr 2020 Disease Tetrasomy 15q26 NCBI curation C3553858 614846 16 Feb 2016 Disease Tetrasomy 18p MONDO C0795868 MONDO:0013668 614290 17 Apr 2020 Disease Tetrasomy 21 MONDO C4707057 MONDO:0019864 17 Apr 2020 Disease Tetrasomy 5p MONDO C0795813 MONDO:0018028 17 Apr 2020 Disease Tetrasomy 9p MONDO C0795832 MONDO:0018030 17 Apr 2020 Disease Texture aversions CN235291 20 Feb 2016 Finding TGBFR2-Related Lynch Syndrome CN229795 16 Feb 2016 Disease TH-deficient infantile parkinsonism and motor delay NCBI curation CN263400 29 Mar 2020 Disease TH-deficient progressive infantile encephalopathy MONDO MONDO:0100066 17 Apr 2020 Disease Thai symphalangism syndrome C1842679 608028 16 Feb 2016 Disease Thalamic arteriovenous malformation Human Phenotype Ontology C4531245 HP:0031254 04 Apr 2018 Finding Thalamic calcification Human Phenotype Ontology C4476561 HP:0025041 02 Apr 2017 Finding Thalamic cancer MONDO C0346902 MONDO:0003766 17 Apr 2020 Disease Thalamic degeneration symmetrical infantile 16 Feb 2016 Disease Thalamic degeneration, symmetric infantile C2931220 273490 16 Feb 2016 Disease Thalamic disease MONDO C0039726 MONDO:0003081 17 Apr 2020 Disease Thalamic edema Human Phenotype Ontology C4476560 HP:0025040 02 Apr 2017 Finding Thalamic hemorrhage Human Phenotype Ontology C0472376 HP:0025064 02 Apr 2017 Finding Thalamic hypometabolism in FDG PET Human Phenotype Ontology C4022796 HP:0012660 16 Feb 2016 Finding Thalassemia NCBI curation C0039730 16 Feb 2016 Disease Thalassemia intermedia NCBI curation C0271979 16 Feb 2016 Disease Thalassemia, beta+, silent allele NCBI curation C1861232 187550 16 Feb 2016 Disease Thalassemia, gamma-delta-beta NCBI curation C4016247 16 Feb 2016 Disease Thalidomide embryopathy MONDO C0432365 MONDO:0018034 17 Apr 2020 Disease Thalidomide susceptibility NCBI curation C1848866 273600 16 Feb 2016 Disease Thallium poisoning MONDO MONDO:0041996 17 Apr 2020 Disease Thanatophoric dysplasia type 1 C1868678 187600 16 Feb 2016 Disease Thanatophoric dysplasia, Glasgow variant MONDO C1848865 MONDO:0010114 273680 22 Apr 2020 Disease Thanatophoric dysplasia, luton variant NCBI curation CN042641 16 Feb 2016 Disease Thanatophoric dysplasia, type 2 C1300257 187601 16 Feb 2016 Disease Thauvin-Robinet-Faivre syndrome NCBI curation C4310715 617107 05 Nov 2017 Disease The child, born of a non-consanguineous marriage, now expired, was diagnosed to be affected with Harlequin Ichthyosis. NCBI curation 10 Jul 2017 Finding The patient was missing 19 permanent teeth, including the third molar, but her deciduous teeth are intact. NCBI curation 16 Feb 2016 Finding The two patients came from reprodutive centres and both have total sperm immotility. In one were diagnostic Fibrous Sheath Dsyplasia and in other Primary Ciliary Dyskinesia. NCBI curation 16 Feb 2016 Finding Theca steroid-producing cell malignant tumor of ovary, not further specified MONDO CN207444 MONDO:0020543 17 Apr 2020 Disease Thecoma MONDO C0039747 MONDO:0037252 17 Apr 2020 Disease Thecoma, somatic NCBI curation C2750844 16 Feb 2016 Disease Theileriasis MONDO C0039753 MONDO:0005978 04 Jun 2020 Infectious disease Thelaziasis MONDO C0344058 MONDO:0000299 04 Jun 2020 Infectious disease Thenar hypoplasia NCBI curation 16 Feb 2016 Disease Thenar muscle atrophy Human Phenotype Ontology C1864715 HP:0003393 16 Feb 2016 Finding Thenar muscle weakness Human Phenotype Ontology C1832276 HP:0003427 16 Feb 2016 Finding Theodor Hertz Goodman syndrome 16 Feb 2016 Disease Theophylline biotransformation NCBI curation C1861211 187650 16 Feb 2016 Disease Therapeutic abortion Human Phenotype Ontology C0000820 HP:0030449 16 Feb 2016 Finding Thiamine Metabolism Dysfunction Syndrome CN239434 02 Dec 2016 Disease Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) CN260039 18 Jun 2019 Disease Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) NCBI curation C3280866 614458 24 Aug 2016 Disease Thiamine Transporter-2 Deficiency CN257769 02 Nov 2018 Disease Thiamine-responsive dysfunction syndrome OMIM phenotypic series CN263235 PS249270 02 Feb 2020 Disease Thiamine-responsive maple syrup urine disease Orphanet C0751285 ORPHA268184 06 Oct 2018 Disease Thiamine-responsive megaloblastic anemia Human Phenotype Ontology C0271972 HP:0004860 16 Feb 2016 Finding thick and abundant straight hair with anterior and posterior low implantation 22 Aug 2019 Finding Thick anterior alveolar ridges Human Phenotype Ontology C1859377 HP:0009100 16 Feb 2016 Finding Thick cerebral cortex Human Phenotype Ontology C4024970 HP:0006891 16 Feb 2016 Finding Thick corpus callosum Human Phenotype Ontology C1835194 HP:0007074 16 Feb 2016 Finding Thick curly hair CN235264 19 Feb 2016 Finding Thick ear helices 06 Sep 2018 Finding Thick eyebrow Human Phenotype Ontology C1853487 HP:0000574 16 Feb 2016 Finding Thick growth plates Human Phenotype Ontology C4476735 HP:0025369 02 Apr 2017 Finding Thick hair Human Phenotype Ontology C4073184 HP:0100874 16 Feb 2016 Finding Thick lower lip vermilion Human Phenotype Ontology C1839739 HP:0000179 16 Feb 2016 Finding Thick nail Human Phenotype Ontology C0263537 HP:0001805 16 Feb 2016 Finding Thick nasal alae Human Phenotype Ontology C1844809 HP:0009928 16 Feb 2016 Finding Thick nasal septum Human Phenotype Ontology C1844810 HP:0009746 16 Feb 2016 Finding Thick skull base Human Phenotype Ontology C1839507 HP:0002737 16 Feb 2016 Finding Thick upper lip vermilion Human Phenotype Ontology C1846423 HP:0000215 16 Feb 2016 Finding Thick vermilion border Human Phenotype Ontology C1836543 HP:0012471 16 Feb 2016 Finding Thickened Achilles tendon Human Phenotype Ontology C0919997 HP:0004690 16 Feb 2016 Finding Thickened aortic valve 22 Jun 2020 Finding Thickened aortic valve cusp Human Phenotype Ontology C4531033 HP:0031568 04 Apr 2018 Finding Thickened calvaria Human Phenotype Ontology C1858452 HP:0002684 16 Feb 2016 Finding Thickened cortex of bones Human Phenotype Ontology C4022382 HP:0100039 16 Feb 2016 Finding Thickened cortex of long bones Human Phenotype Ontology C1840418 HP:0000935 16 Feb 2016 Finding Thickened earlobes with conductive deafness from incus-stapes abnormalities C2931222 16 Feb 2016 Disease Thickened ears Human Phenotype Ontology C4024168 HP:0009894 16 Feb 2016 Finding Thickened elastic fibers in the dermis Human Phenotype Ontology C4476631 HP:0025166 02 Apr 2017 Finding Thickened gingiva 27 Apr 2018 Finding thickened heart wall CN238746 19 Oct 2016 Finding Thickened helices Human Phenotype Ontology C1837732 HP:0000391 16 Feb 2016 Finding Thickened nuchal fold 22 Jun 2020 Finding Thickened nuchal skin fold Human Phenotype Ontology C1836940 HP:0000474 16 Feb 2016 Finding Thickened ribs Human Phenotype Ontology C0426820 HP:0000900 16 Feb 2016 Finding Thickened skin Human Phenotype Ontology C0241165 HP:0001072 16 Feb 2016 Finding Thickened superior cerebellar peduncle Human Phenotype Ontology C4021756 HP:0002404 16 Feb 2016 Finding Thickening of glomerular capillary wall Human Phenotype Ontology C4293707 HP:0025005 02 Apr 2017 Finding thickening of the cardiac intraventricular septum 11 Feb 2019 Finding thickening of the flexor tendon sheaths 13 Feb 2020 Finding Thickening of the glomerular basement membrane Human Phenotype Ontology C0445347 HP:0004722 16 Feb 2016 Finding Thickening of the lateral border of the scapula Human Phenotype Ontology C1834383 HP:0006650 16 Feb 2016 Finding Thiel-Behnke corneal dystrophy C1562894 602082 16 Feb 2016 Disease Thigh hypertrophy Human Phenotype Ontology C1846674 HP:0003733 16 Feb 2016 Finding Thimble-shaped middle phalanges of hand Human Phenotype Ontology C4025083 HP:0006193 16 Feb 2016 Finding Thin and hypopigmented hair CN232370 16 Feb 2016 Finding Thin anteverted nares Human Phenotype Ontology C1834056 HP:0004495 16 Feb 2016 Finding Thin bony cortex Human Phenotype Ontology C1833325 HP:0002753 16 Feb 2016 Finding Thin calvarium Human Phenotype Ontology C1856231 HP:0010539 16 Feb 2016 Finding Thin clavicles Human Phenotype Ontology C0575535 HP:0006645 16 Feb 2016 Finding Thin ear helix Human Phenotype Ontology C4024164 HP:0009905 16 Feb 2016 Finding Thin enamel layer on all teeth CN236312 13 Apr 2016 Finding Thin eyebrow Human Phenotype Ontology C4281771 HP:0045074 02 Apr 2017 Finding Thin fingernail Human Phenotype Ontology C4022750 HP:0012742 16 Feb 2016 Finding Thin glomerular basement membrane Human Phenotype Ontology C3276821 HP:0012577 16 Feb 2016 Finding Thin long bone diaphyses Human Phenotype Ontology C1859449 HP:0006470 16 Feb 2016 Finding Thin lower lip vermilion Human Phenotype Ontology C2053440 HP:0010282 16 Feb 2016 Finding Thin metacarpal cortices Human Phenotype Ontology C1850160 HP:0006086 16 Feb 2016 Finding Thin metatarsal cortices Human Phenotype Ontology C1850162 HP:0008078 16 Feb 2016 Finding Thin myocardium compact layer Human Phenotype Ontology C4531284 HP:0031196 04 Apr 2018 Finding Thin nail Human Phenotype Ontology C0423823 HP:0001816 16 Feb 2016 Finding Thin proximal phalanges with broad epiphyses of the hand Human Phenotype Ontology C4025079 HP:0006213 16 Feb 2016 Finding Thin ribs Human Phenotype Ontology C0426818 HP:0000883 16 Feb 2016 Finding Thin ribs tubular bones dysmorphism 16 Feb 2016 Disease Thin ribs-tubular bones-dysmorphism syndrome MONDO C2931543 MONDO:0015462 17 Apr 2020 Disease Thin skin Human Phenotype Ontology C0423757 HP:0000963 16 Feb 2016 Finding Thin slow-growing hair 23 Jan 2020 Finding Thin superior lip 23 Jan 2020 Finding Thin toenail Human Phenotype Ontology C3554113 HP:0012746 16 Feb 2016 Finding Thin upper lip vermilion Human Phenotype Ontology C1865017 HP:0000219 16 Feb 2016 Finding Thin vermilion border Human Phenotype Ontology C0578038 HP:0000233 16 Feb 2016 Finding Thin-cap fibroatheroma Human Phenotype Ontology C4476910 HP:0031012 04 Apr 2018 Finding Thinking seizures MONDO C4706523 MONDO:0015647 17 Apr 2020 Disease Thinning and bulging of the posterior fossa bones Human Phenotype Ontology C4021788 HP:0000931 16 Feb 2016 Finding thinning corpus callosum 26 Feb 2020 Finding Thinning of corpus callosum 23 Jan 2020 Finding Thinning of Descemet membrane Human Phenotype Ontology C4477011 HP:0031159 04 Apr 2018 Finding Thioguanine response NCBI curation CN078017 16 Feb 2016 Pharmacological response Thiolase deficiency 16 Feb 2016 Disease Thiopurine immunosuppressant-induced pancreatitis MONDO MONDO:0005589 17 Apr 2020 Disease Thiopurine methyltransferase deficiency NCBI curation C0342801 610460 16 Feb 2016 Disease Thiopurine response NCBI curation CN971394 16 Feb 2016 Pharmacological response Thiopurines, poor metabolism of, 2 NCBI curation C4225160 616903 09 Nov 2016 Disease Thioridazine response NCBI curation CN078018 16 Feb 2016 Pharmacological response Thiourea tasting NCBI curation C1868397 171200 16 Feb 2016 Finding Third branchial cleft anomaly MONDO C3874314 MONDO:0015377 17 Apr 2020 Disease Third cranial nerve disease MONDO C0271353 MONDO:0003546 17 Apr 2020 Disease Third degree atrioventricular block Human Phenotype Ontology C0151517 HP:0001709 16 Feb 2016 Finding Third degree consanguinity, facial dysmorphism, mild hypotonia and microcephaly. 27 Jul 2017 Finding Thomas Jewett Raines syndrome 16 Feb 2016 Disease Thomas syndrome C2931225 16 Feb 2016 Disease Thompson Baraitser syndrome 16 Feb 2016 Disease Thoracic aorta calcification Human Phenotype Ontology C1969292 HP:0004962 16 Feb 2016 Finding Thoracic aortic dissection NCBI curation C3809514 13 Oct 2017 Disease Thoracic benign neoplasm MONDO C0346440 MONDO:0000634 17 Apr 2020 Disease Thoracic cancer MONDO C0153661 MONDO:0003274 17 Apr 2020 Disease Thoracic celosomia 16 Feb 2016 Disease Thoracic disc degenerative disorder MONDO C0263872 MONDO:0044342 17 Apr 2020 Disease Thoracic disease MONDO MONDO:0000651 17 Apr 2020 Disease Thoracic dysostosis, isolated NCBI curation C1861204 187750 16 Feb 2016 Disease Thoracic dysplasia Human Phenotype Ontology C1406921 HP:0006644 16 Feb 2016 Finding Thoracic dysplasia-hydrocephalus syndrome NCBI curation C1848864 273730 16 Feb 2016 Disease Thoracic ectopia cordis Human Phenotype Ontology C4023284 HP:0011585 16 Feb 2016 Finding Thoracic hemivertebrae Human Phenotype Ontology C0432152 HP:0008467 16 Feb 2016 Finding Thoracic hypertrichosis Human Phenotype Ontology C4023129 HP:0011914 16 Feb 2016 Finding Thoracic hypoplasia Human Phenotype Ontology C1837482 HP:0005257 16 Feb 2016 Finding Thoracic kyphoscoliosis Human Phenotype Ontology C4015465 HP:0005659 16 Feb 2016 Finding Thoracic kyphosis Human Phenotype Ontology C1184919 HP:0002942 16 Feb 2016 Finding Thoracic malformation MONDO CN226789 MONDO:0015929 17 Apr 2020 Disease Thoracic outlet syndrome C0039984 16 Feb 2016 Disease Thoracic platyspondyly Human Phenotype Ontology C1862428 HP:0004592 16 Feb 2016 Finding Thoracic scoliosis Human Phenotype Ontology C1857790 HP:0002943 16 Feb 2016 Finding Thoracic spinal canal and spinal cord meningioma MONDO C1336738 MONDO:0003770 17 Apr 2020 Disease Thoracic vertebral fusion 06 Nov 2018 Finding Thoracic, lumbar and sacral vertebral fusion 06 Nov 2018 Finding Thoraco limb dysplasia Rivera type 16 Feb 2016 Disease Thoraco-abdominal enteric duplication MONDO C4518084 MONDO:0015774 22 Apr 2020 Disease Thoracoabdominal ectopia cordis Human Phenotype Ontology C4023283 HP:0011586 16 Feb 2016 Finding Thoracoabdominal eventration Human Phenotype Ontology C0266682 HP:0100657 02 Apr 2017 Finding Thoracoabdominal wall defect Human Phenotype Ontology C4022002 HP:0100656 02 Apr 2017 Finding Thoracocervical ectopia cordis Human Phenotype Ontology C4023285 HP:0011584 16 Feb 2016 Finding Thoracolaryngopelvic dysplasia C1861197 187760 16 Feb 2016 Disease Thoracolumbar interpediculate narrowness Human Phenotype Ontology C1864364 HP:0008484 16 Feb 2016 Finding Thoracolumbar kyphoscoliosis Human Phenotype Ontology C1859335 HP:0003423 16 Feb 2016 Finding Thoracolumbar kyphosis Human Phenotype Ontology C1855418 HP:0005619 16 Feb 2016 Finding Thoracolumbar scoliosis Human Phenotype Ontology C0749379 HP:0002944 16 Feb 2016 Finding Thoracolumbosacral spina bifida aperta MONDO CN202423 MONDO:0017064 17 Apr 2020 Disease Thoracolumbosacral spina bifida cystica MONDO CN202431 MONDO:0017071 17 Apr 2020 Disease Thoracomelic dysplasia C1848863 273740 16 Feb 2016 Disease Thoracopelvic dysostosis C1861196 187770 16 Feb 2016 Disease Thost-Unna palmoplantar keratoderma 16 Feb 2016 Disease Three M syndrome OMIM phenotypic series CN073943 PS273750 16 Feb 2016 Disease Three M syndrome 1 NCBI curation C1848862 273750 16 Feb 2016 Disease Three M syndrome 2 NCBI curation C2752041 612921 16 Feb 2016 Disease Three M syndrome 3 NCBI curation C3280146 614205 16 Feb 2016 Disease Three rows of eyelashes Human Phenotype Ontology C1860785 HP:0008009 190800 16 Feb 2016 Finding Three Vessel Coronary Disease C3272265 19 Feb 2020 Disease Threoninemia MONDO C1848861 MONDO:0010118 273770 17 Apr 2020 Disease Thromboangiitis obliterans MONDO C0040021 MONDO:0008889 211480 22 Apr 2020 Disease Thrombocyte b NCBI curation C1861193 187940 16 Feb 2016 Disease Thrombocythemia 1 NCBI curation C3277671 187950 22 Dec 2019 Disease Thrombocythemia 2, somatic NCBI curation C3277190 26 May 2016 Disease Thrombocythemia 3 NCBI curation C3281125 614521 16 Feb 2016 Disease Thrombocythemia, X-linked NCBI curation C1845888 300331 16 Feb 2016 Disease Thrombocytolenia 06 Dec 2017 Finding Thrombocytopathy 16 Feb 2016 Disease Thrombocytopathy asplenia miosis 16 Feb 2016 Disease Thrombocytopenia Human Phenotype Ontology C0040034 HP:0001873 16 Feb 2016 Finding Thrombocytopenia 2 C1861185 188000 16 Feb 2016 Disease Thrombocytopenia 3 NCBI curation C2678311 273900 16 Feb 2016 Disease Thrombocytopenia 4 NCBI curation C2677608 612004 16 Feb 2016 Disease Thrombocytopenia 5 NCBI curation C4015537 616216 16 Feb 2016 Disease Thrombocytopenia 6 NCBI curation C4310789 616937 18 Sep 2016 Disease Thrombocytopenia cerebellar hypoplasia short stature 16 Feb 2016 Disease Thrombocytopenia due to immune destruction MONDO MONDO:0002048 17 Apr 2020 Disease Thrombocytopenia essential 16 Feb 2016 Disease Thrombocytopenia Robin sequence 16 Feb 2016 Disease Thrombocytopenia with congenital dyserythropoietic anemia MONDO C4302508 MONDO:0019031 17 Apr 2020 Disease Thrombocytopenia with elevated serum IgA and renal disease C1839162 314000 16 Feb 2016 Disease Thrombocytopenia, acquired amegakaryocytic 16 Feb 2016 Disease Thrombocytopenia, anemia, and myelofibrosis NCBI curation C4479504 617441 20 Jun 2017 Disease Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis NCBI curation C1839161 314050 16 Feb 2016 Disease Thrombocytopenia, X-linked, intermittent NCBI curation C1839164 16 Feb 2016 Disease Thrombocytopenia, X-linked, without dyserythropoietic anemia NCBI curation C4016508 22 Jan 2017 Disease Thrombocytopenic purpura MONDO C0857305 MONDO:0043768 17 Apr 2020 Disease Thrombocytosis Human Phenotype Ontology C0836924 HP:0001894 16 Feb 2016 Finding Thrombocytosis, benign familial microcytic NCBI curation C3275998 601977 16 Feb 2016 Disease Thromboembolic stroke Human Phenotype Ontology C1112433 HP:0001727 16 Feb 2016 Finding Thromboembolism PharmGKB C0040038 18 May 2016 Disease Thromboembolism Human Phenotype Ontology C0040038 HP:0001907 18 May 2016 Disease Thromboembolism, susceptibility to CN260026 18 Jun 2019 Disease Thrombophilia due to activated protein C resistance NCBI curation C1861171 188055 16 Feb 2016 Disease Thrombophilia due to elevated histidine-rich glycoprotein NCBI curation 16 Feb 2016 Disease Thrombophilia due to elevated HRG CN260028 18 Jun 2019 Disease Thrombophilia due to factor V Leiden NCBI curation CN042885 16 Feb 2016 Disease Thrombophilia due to HRG deficiency CN260027 18 Jun 2019 Disease Thrombophilia due to protein C deficiency 28 Mar 2019 Finding Thrombophilia due to protein S deficiency, autosomal dominant MONDO C3278211 MONDO:0012868 612336 22 Apr 2020 Disease Thrombophilia due to protein S deficiency, autosomal recessive NCBI curation C3281092 614514 16 Feb 2016 Disease Thrombophilia due to thrombomodulin defect NCBI curation C3280976 614486 16 Feb 2016 Disease Thrombophilia, familial, due to decreased release of PLAT CN260029 18 Jun 2019 Disease Thrombophilia, familial, due to decreased release of tissue plasminogen activator NCBI curation C2676721 612348 16 Feb 2016 Disease Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant NCBI curation C2674321 176860 16 Feb 2016 Disease Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive NCBI curation C2676759 612304 16 Feb 2016 Disease Thrombophilia, hereditary, due to protein s deficiency, autosomal recessive NCBI curation 16 Feb 2016 Disease Thrombophilia, histidine-rich glycoprotein-related NCBI curation C2751090 613116 16 Feb 2016 Disease Thrombophilia, susceptibility to, due to factor V Leiden CN260030 18 Jun 2019 Disease Thrombophilia, X-linked, due to factor IX defect NCBI curation C2749016 300807 16 Feb 2016 Disease Thrombophlebitis Human Phenotype Ontology C0040046 HP:0004418 16 Feb 2016 Finding Thrombophlebitis migrans MONDO C0152250 MONDO:0001954 17 Apr 2020 Disease Thrombosis PharmGKB C0040053 18 May 2016 Disease THROMBOSIS, PROTECTION AGAINST 16 Feb 2016 Disease Thrombotic disease MONDO MONDO:0000831 17 Apr 2020 Disease Thrombotic disorder due to a coagulation factors defect MONDO CN226982 MONDO:0016632 17 Apr 2020 Disease Thrombotic disorder due to a constitutional coagulation factors defect MONDO CN226983 MONDO:0016633 17 Apr 2020 Disease Thrombotic disorder due to a constitutional platelet anomaly MONDO CN226986 MONDO:0016636 17 Apr 2020 Disease Thrombotic disorder due to a platelet anomaly MONDO CN226985 MONDO:0016635 17 Apr 2020 Disease Thrombotic disorder due to an acquired coagulation factors defect MONDO CN226984 MONDO:0016634 17 Apr 2020 Disease Thrombotic disorder due to an acquired platelet anomaly MONDO CN226987 MONDO:0016637 17 Apr 2020 Disease Thrombotic microangiopathy MONDO C2717961 MONDO:0019737 17 Apr 2020 Disease Thrombotic stroke C0242129 08 May 2019 Disease Thrombotic thrombocytopenic purpura NCBI curation C0034155 16 Aug 2018 Disease Thromboxane synthase deficiency CN258970 12 Jun 2019 Disease Thromboxane synthetase deficiency NCBI curation C0398635 614158 16 Feb 2016 Disease Thumb absence hypoplastic halluces 16 Feb 2016 Disease Thumb absent short stature immune deficiency 16 Feb 2016 Disease Thumb agenesis, short stature, and immunodeficiency NCBI curation C1848818 274190 16 Feb 2016 Disease Thumb deformity (disease) MONDO C0575897 MONDO:0008561 188100 17 Apr 2020 Disease Thumb deformity and alopecia NCBI curation C1861168 188150 16 Feb 2016 Disease Thumb deformity, alopecia, pigmentation anomaly 16 Feb 2016 Disease Thumb stiffness-brachydactyly-intellectual disability syndrome MONDO C1861166 MONDO:0008563 188201 17 Apr 2020 Disease Thumb, distal hyperextensibility of NCBI curation C1848817 274200 16 Feb 2016 Disease Thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness NCBI curation C1848816 274205 16 Feb 2016 Disease Thumbs hypoplastic with bulbous tips Human Phenotype Ontology C4025146 HP:0005726 16 Feb 2016 Finding Thumbs, congenital Clasped MONDO CN280492 MONDO:0010746 314100 22 Apr 2020 Disease Thunderclap headache Human Phenotype Ontology C0521668 HP:0030907 02 Apr 2017 Finding Thygeson superficial punctate keratopathy MONDO CN258722 MONDO:0033816 17 Apr 2020 Disease Thymic adenosquamous carcinoma MONDO C1332171 MONDO:0003551 17 Apr 2020 Disease Thymic aplasia with fetal death NCBI curation C1848815 274210 16 Feb 2016 Disease Thymic basaloid carcinoma MONDO C1332464 MONDO:0004092 17 Apr 2020 Disease Thymic carcinoma MONDO C0205969 MONDO:0006451 17 Apr 2020 Disease Thymic dysplasia MONDO C1331541 MONDO:0004195 17 Apr 2020 Disease Thymic epithelial neoplasm MONDO C1266101 MONDO:0018079 17 Apr 2020 Disease Thymic epithelial tumor 16 Feb 2016 Disease Thymic hormone decreased Human Phenotype Ontology C1857652 HP:0003357 16 Feb 2016 Finding Thymic hyperplasia 16 Feb 2016 Disease Thymic large cell neuroendocrine carcinoma MONDO C1334364 MONDO:0003047 17 Apr 2020 Disease Thymic mucoepidermoid carcinoma MONDO C1334814 MONDO:0003086 17 Apr 2020 Disease Thymic neuroendocrine carcinoma MONDO C2210965 MONDO:0020516 17 Apr 2020 Disease Thymic neuroendocrine tumor MONDO CN206887 MONDO:0019964 17 Apr 2020 Disease Thymic sarcomatoid carcinoma MONDO C1335924 MONDO:0006452 17 Apr 2020 Disease Thymic undifferentiated carcinoma MONDO C1336865 MONDO:0006455 17 Apr 2020 Disease Thymic-Renal-Anal-Lung dysplasia C1848812 274265 16 Feb 2016 Disease Thymoma Human Phenotype Ontology C0040100 HP:0100522 02 Mar 2017 Disease Thymoma type A MONDO C1266091 MONDO:0002588 17 Apr 2020 Disease Thymoma type AB MONDO C1266092 MONDO:0016975 17 Apr 2020 Disease Thymoma type B MONDO C1328042 MONDO:0016974 17 Apr 2020 Disease Thymoma type B1 MONDO C1266094 MONDO:0006459 17 Apr 2020 Disease Thymoma type B3 MONDO C0279705 MONDO:0006458 17 Apr 2020 Disease Thymoma, childhood 16 Feb 2016 Disease Thymoma, familial NCBI curation C1848814 274230 16 Feb 2016 Disease Thymus cancer MONDO C0751552 MONDO:0002586 17 Apr 2020 Disease Thymus clear cell carcinoma MONDO C1333069 MONDO:0004475 17 Apr 2020 Disease Thymus gland adenocarcinoma MONDO C1336743 MONDO:0003209 17 Apr 2020 Disease Thymus gland disease MONDO C0154199 MONDO:0003393 17 Apr 2020 Disease Thymus hyperplasia Human Phenotype Ontology C0040115 HP:0010516 16 Feb 2016 Finding Thymus lipoma MONDO C1336744 MONDO:0002163 17 Apr 2020 Disease Thymus lymphoma MONDO C1336745 MONDO:0000951 17 Apr 2020 Disease Thymus small cell carcinoma MONDO C1335980 MONDO:0004122 17 Apr 2020 Disease Thymus squamous cell carcinoma MONDO C1336082 MONDO:0003493 17 Apr 2020 Disease Thyrocalcitonin secretion disease MONDO C0701822 MONDO:0001525 17 Apr 2020 Disease Thyrocerebrorenal syndrome MONDO C1848813 MONDO:0010128 274240 17 Apr 2020 Disease Thyroglobulin synthesis defect C0342196 274900 16 Feb 2016 Disease Thyroglossal cyst Human Phenotype Ontology C0040124 HP:0010518 16 Feb 2016 Finding Thyroid abnormalities CN244024 01 Jun 2017 Finding Thyroid adenoma (disease) MONDO C0151468 MONDO:0002454 17 Apr 2020 Disease Thyroid adenoma, hyperfunctioning NCBI curation C1863960 16 Feb 2016 Disease Thyroid agenesis Human Phenotype Ontology C0749420 HP:0008191 16 Feb 2016 Finding Thyroid atypical adenoma Human Phenotype Ontology C4023191 HP:0011778 16 Feb 2016 Finding Thyroid autoantibodies NCBI curation 16 Feb 2016 Disease Thyroid C cell hyperplasia Human Phenotype Ontology C0342190 HP:0011781 16 Feb 2016 Finding Thyroid cancer NCBI curation CN221577 27 Jul 2016 Disease Thyroid cancer, childhood CN036501 16 Feb 2016 Disease Thyroid cancer, nonmedullary, 3 NCBI curation C4225410 606240 24 Aug 2016 Disease Thyroid cancer, nonmedullary, 4 NCBI curation C4225293 616534 16 Feb 2016 Disease Thyroid cancer, nonmedullary, 5 NCBI curation C4225292 616535 16 Feb 2016 Disease THYROID CANCER, NONMEDULLARY, 5, SUSCEPTIBILITY TO 16 Feb 2016 Disease Thyroid carcinoma Human Phenotype Ontology C0549473 HP:0002890 16 Feb 2016 Disease Thyroid carcinoma with thyrotoxicosis NCBI curation C1863961 16 Feb 2016 Disease THYROID CARCINOMA WITH THYROTOXICOSIS, SOMATIC 16 Feb 2016 Disease Thyroid carcinoma, nonmedullary, with or without cell oxyphilia MONDO C1863925 MONDO:0011312 603386 22 Apr 2020 Disease Thyroid carcinoma, papillary, with papillary renal neoplasia NCBI curation C1854104 605642 16 Feb 2016 Disease Thyroid carcinoma, sporadic medullary NCBI curation C1833929 16 Feb 2016 Disease Thyroid crisis Human Phenotype Ontology C0040127 HP:0011782 16 Feb 2016 Finding Thyroid defect in oxidation and organification of iodide Human Phenotype Ontology C1848800 HP:0008263 16 Feb 2016 Finding Thyroid dyshormonogenesis C0342191 16 Feb 2016 Disease Thyroid dyshormonogenesis 1 NCBI curation C1848805 274400 16 Feb 2016 Disease Thyroid dyshormonogenesis 6 NCBI curation C1846632 607200 16 Feb 2016 Disease Thyroid fetal adenoma MONDO C0334328 MONDO:0004460 17 Apr 2020 Disease Thyroid follicular adenoma Human Phenotype Ontology CN911516 HP:0011774 04 Apr 2018 Finding Thyroid follicular hyperplasia Human Phenotype Ontology C1969546 HP:0008225 16 Feb 2016 Finding Thyroid gland adenocarcinoma MONDO C1704228 MONDO:0024622 17 Apr 2020 Disease Thyroid gland angiosarcoma MONDO C1336748 MONDO:0003027 17 Apr 2020 Disease Thyroid gland diffuse large B-cell lymphoma MONDO C1336749 MONDO:0006462 17 Apr 2020 Disease Thyroid gland diffuse sclerosing papillary carcinoma MONDO MONDO:0003701 17 Apr 2020 Disease Thyroid gland macrofollicular adenoma MONDO C0334329 MONDO:0004558 17 Apr 2020 Disease Thyroid gland mucoepidermoid carcinoma MONDO C1513721 MONDO:0006463 17 Apr 2020 Disease Thyroid gland mucosa-associated lymphoid tissue lymphoma MONDO C1336754 MONDO:0006464 17 Apr 2020 Disease Thyroid gland oncocytic follicular carcinoma MONDO MONDO:0006465 17 Apr 2020 Disease Thyroid gland papillary and follicular carcinoma MONDO C0206683 MONDO:0006886 17 Apr 2020 Disease Thyroid gland spindle cell tumor with thymus-like differentiation MONDO C1266099 MONDO:0006466 17 Apr 2020 Disease Thyroid gland squamous cell carcinoma MONDO C1710177 MONDO:0006467 17 Apr 2020 Disease Thyroid gland undifferentiated (anaplastic) carcinoma MONDO C0238461 MONDO:0006468 17 Apr 2020 Disease Thyroid hemiagenesis Human Phenotype Ontology C4023190 HP:0011780 16 Feb 2016 Finding Thyroid hemiagenesis isolated CN239571 16 Dec 2016 Finding Thyroid hormone metabolism, abnormal NCBI curation C1864761 609698 16 Feb 2016 Disease Thyroid hormone plasma membrane transport defect C1861101 188560 16 Feb 2016 Disease Thyroid hormone receptor defect Human Phenotype Ontology C2940786 HP:0002930 16 Feb 2016 Finding Thyroid hormone resistance syndrome MONDO CN118820 MONDO:0001328 17 Apr 2020 Disease Thyroid hormone resistance, generalized NCBI curation 16 Feb 2016 Disease Thyroid hormone resistance, generalized, autosomal dominant NCBI curation C2937288 188570 16 Feb 2016 Disease Thyroid hormone resistance, generalized, autosomal recessive NCBI curation C3489796 274300 16 Feb 2016 Disease Thyroid hormone resistance, selective pituitary NCBI curation C1840364 145650 16 Feb 2016 Disease Thyroid Hormonogenesis Defect CN239261 02 Dec 2016 Disease Thyroid hyalinizing trabecular adenoma MONDO C1336751 MONDO:0003806 17 Apr 2020 Disease Thyroid hyperplasia Human Phenotype Ontology C1112776 HP:0008249 16 Feb 2016 Finding Thyroid hypoplasia Human Phenotype Ontology C0151516 HP:0005990 16 Feb 2016 Finding Thyroid lymphangiectasia Human Phenotype Ontology C1856129 HP:0008229 16 Feb 2016 Finding Thyroid lymphoma MONDO C1336753 MONDO:0019962 17 Apr 2020 Disease Thyroid macrofollicular adenoma Human Phenotype Ontology C4023194 HP:0011775 16 Feb 2016 Finding Thyroid malformation MONDO MONDO:0004564 17 Apr 2020 Disease Thyroid microfollicular adenoma Human Phenotype Ontology C4023193 HP:0011776 16 Feb 2016 Finding Thyroid nodule Human Phenotype Ontology C0040137 HP:0025388 01 Jun 2017 Finding Thyroid papillary adenoma Human Phenotype Ontology C4023192 HP:0011777 16 Feb 2016 Finding Thyroid sarcoma MONDO C1336756 MONDO:0003028 17 Apr 2020 Disease Thyroid-associated orbitopathy, susceptibility to NCBI curation 16 Feb 2016 Disease Thyroid-stimulating hormone level quantitative trait locus 1 NCBI curation C2676758 612306 16 Feb 2016 Disease Thyroid-stimulating hormone receptor defect Human Phenotype Ontology C4023189 HP:0011789 02 Apr 2017 Finding Thyroiditis Human Phenotype Ontology C0040147 HP:0100646 16 Feb 2016 Finding Thyrotoxic exophthalmos MONDO C0155265 MONDO:0001511 17 Apr 2020 Disease Thyrotoxic periodic paralysis OMIM phenotypic series C0268446 PS188580 20 Jan 2020 Disease Thyrotoxic periodic paralysis 2 NCBI curation C2750473 613239 16 Feb 2016 Disease Thyrotoxic periodic paralysis, susceptibility to, 1 NCBI curation C2749982 188580 20 Jan 2020 Disease Thyrotoxic periodic paralysis, susceptibility to, 3 NCBI curation C3553839 614834 16 Feb 2016 Disease Thyrotoxicosis from ectopic thyroid tissue Human Phenotype Ontology C0154148 HP:0011783 16 Feb 2016 Finding Thyrotoxicosis with diffuse goiter Human Phenotype Ontology C0342122 HP:0011784 16 Feb 2016 Finding Thyrotoxicosis with toxic multinodular goitre Human Phenotype Ontology C0154143 HP:0011785 16 Feb 2016 Finding Thyrotoxicosis with toxic single thyroid nodule Human Phenotype Ontology C0154141 HP:0011786 16 Feb 2016 Finding THYROTROPIN RECEPTOR POLYMORPHISM 16 Feb 2016 Disease Thyrotropin, biologically inactive NCBI curation 16 Feb 2016 Disease Thyrotropin-releasing hormone resistance, generalized NCBI curation C1861106 16 Feb 2016 Disease Thyroxine-binding globulin deficiency NCBI curation C1839141 16 Feb 2016 Disease Thyroxine-binding globulin deficiency, partial NCBI curation C0271836 16 Feb 2016 Disease Thyroxine-binding globulin quantitative trait locus NCBI curation C4310821 300932 20 Jun 2017 Disease Thyroxine-binding globulin, Chicago NCBI curation 16 Feb 2016 Named protein variant Thyroxine-binding globulin, slow NCBI curation 16 Feb 2016 Named protein variant Thyroxine-binding globulin, variant A NCBI curation 16 Feb 2016 Named protein variant Thyroxine-binding globulin, variant P NCBI curation 16 Feb 2016 Named protein variant Tibia fracture MONDO MONDO:0005320 17 Apr 2020 Disease Tibia vara C3150037 188700 16 Feb 2016 Disease Tibia, absence of, with congenital deafness NCBI curation C1848758 275230 16 Feb 2016 Disease Tibia, hypoplasia or aplasia of, with polydactyly NCBI curation C1861098 188740 24 Aug 2016 Disease Tibiae bowed radial anomalies osteopenia fracture 16 Feb 2016 Disease Tibial adamantinoma MONDO C1273017 MONDO:0006469 17 Apr 2020 Disease Tibial aplasia ectrodactyly hydrocephalus 16 Feb 2016 Disease Tibial arterial calcification Human Phenotype Ontology C4531213 HP:0031305 04 Apr 2018 Finding Tibial bowing Human Phenotype Ontology C1837081 HP:0002982 16 Feb 2016 Finding Tibial collateral ligament bursitis MONDO C0158315 MONDO:0001747 17 Apr 2020 Disease Tibial deviation of the 2nd toe Human Phenotype Ontology C4022135 HP:0100345 16 Feb 2016 Finding Tibial deviation of the 3rd toe Human Phenotype Ontology C4022137 HP:0100343 16 Feb 2016 Finding Tibial deviation of the 4th toe Human Phenotype Ontology C4022139 HP:0100341 16 Feb 2016 Finding Tibial deviation of the 5th toe Human Phenotype Ontology C4022133 HP:0100347 16 Feb 2016 Finding Tibial deviation of toes Human Phenotype Ontology C3806533 HP:0100499 16 Feb 2016 Finding Tibial hemimelia MONDO C0265633 MONDO:0010144 275220 17 Apr 2020 Disease Tibial hemimelia cleft lip palate 16 Feb 2016 Disease Tibial hemimelia, bilateral MONDO MONDO:0017491 17 Apr 2020 Disease Tibial hemimelia, unilateral MONDO MONDO:0017490 17 Apr 2020 Disease Tibial metaphyseal irregularity Human Phenotype Ontology C4022533 HP:0030292 16 Feb 2016 Finding Tibial muscular dystrophy MONDO C1838244 MONDO:0010870 600334 17 Apr 2020 Disease Tibial nerve palsy MONDO C0154751 MONDO:0001544 17 Apr 2020 Disease Tibial neuropathy MONDO C0751932 MONDO:0006997 17 Apr 2020 Disease Tibial pseudoarthrosis Human Phenotype Ontology C4024216 HP:0009736 16 Feb 2016 Finding Tibial spur Human Phenotype Ontology C4477019 HP:0031173 04 Apr 2018 Finding Tibial torsion Human Phenotype Ontology C0426900 HP:0100694 16 Feb 2016 Finding Tibial torsion, bilateral medial NCBI curation C1861097 188800 16 Feb 2016 Disease Tibialis atrophy Human Phenotype Ontology C4023375 HP:0011399 16 Feb 2016 Finding Tibialis muscle weakness Human Phenotype Ontology C4024612 HP:0008963 16 Feb 2016 Finding Tibialis tendinitis MONDO C0158321 MONDO:0001127 17 Apr 2020 Disease Tibio-fibular synostosis MONDO C4545230 MONDO:0017467 17 Apr 2020 Disease Tibiofibular diastasis Human Phenotype Ontology C4022029 HP:0100535 16 Feb 2016 Finding Tick infestation MONDO C0040196 MONDO:0005980 04 Jun 2020 Infectious disease Tick paralysis C0040197 16 Feb 2016 Infectious disease Tick-borne encephalitis C0014061 16 Feb 2016 Infectious disease Tick-borne infectious disease MONDO C0162700 MONDO:0025294 04 Jun 2020 Infectious disease Tick-borne relapsing fever MONDO C0035022 MONDO:0001621 04 Jun 2020 Infectious disease Tics Human Phenotype Ontology C2169806 HP:0100033 16 Feb 2016 Finding Tietz syndrome C0391816 103500 16 Feb 2016 Disease Tietze syndrome C0040213 16 Feb 2016 Disease Tiger prawn allergy MONDO MONDO:0000803 17 Apr 2020 Disease Tiger tail banding Human Phenotype Ontology C4073178 HP:0045055 16 Feb 2016 Finding tight finger extension 16 May 2018 Finding tight heel cords 18 Jan 2019 Finding Time agnosia MONDO C0234506 MONDO:0000682 17 Apr 2020 Disease Timolol response CN078019 16 Feb 2016 Pharmacological response Timothy grass allergy MONDO MONDO:0000773 17 Apr 2020 Disease Timothy syndrome NCBI curation C1832916 601005 16 Feb 2016 Disease Timothy syndrome type 1 (disorder) MONDO MONDO:0021171 17 Apr 2020 Disease Timothy syndrome type 2 (disorder) MONDO C4304347 MONDO:0021172 17 Apr 2020 Disease Tinea barbae MONDO C2349994 MONDO:0000242 04 Jun 2020 Infectious disease Tinea corporis MONDO C0040252 MONDO:0001461 04 Jun 2020 Infectious disease Tinea favosa MONDO C0040254 MONDO:0005983 04 Jun 2020 Infectious disease Tinea imbricata MONDO C0040255 MONDO:0000245 04 Jun 2020 Infectious disease Tinea infection MONDO C0040247 MONDO:0005982 04 Jun 2020 Infectious disease Tinea kerion C0276742 275240 16 Feb 2016 Disease Tinea manuum MONDO C0153246 MONDO:0001699 04 Jun 2020 Infectious disease Tinea nigra MONDO C0152067 MONDO:0004677 04 Jun 2020 Infectious disease Tinea pedis MONDO C0040259 MONDO:0005984 04 Jun 2020 Infectious disease Tinea unguium MONDO CN281738 MONDO:0001628 04 Jun 2020 Infectious disease Tinnitus Human Phenotype Ontology C0040264 HP:0000360 16 Feb 2016 Finding Tiotropium response CN078020 16 Feb 2016 Pharmacological response Tip-toe gait Human Phenotype Ontology C1843570 HP:0030051 16 Feb 2016 Finding Tissue-specific extinguisher 3 NCBI curation CN189712 601221 16 Feb 2016 Disease Titubation Human Phenotype Ontology C0231690 HP:0030187 16 Feb 2016 Finding Tièche-Jadassohn nevus 16 Feb 2016 Disease TKFC deficiency 31 Mar 2020 Disease Tl antigen NCBI curation C0076628 188850 16 Feb 2016 Disease TLK2-Related Disorder 29 Aug 2019 Disease TLK2-related neurodevelopmental disorder 21 May 2020 Disease TLR4 POLYMORPHISM 15 May 2016 Disease TMC1-Related Disorders 23 May 2019 Disease TMEM199-CDG MONDO C4225190 MONDO:0014790 616829 17 Apr 2020 Disease TMEM216-Related Disorders 23 May 2019 Disease TMEM67-Related Disorders CN239423 02 Dec 2016 Disease TMEM94-related condition 13 Dec 2018 Finding TNF receptor binding, altered NCBI curation C4016415 06 Mar 2016 Disease TNF receptor-associated periodic fever syndrome (TRAPS) C1275126 142680 16 Feb 2016 Disease TNNT2-Related Cardiomyopathy 23 May 2019 Disease Tobacco addiction, susceptibility to NCBI curation C1861063 188890 16 Feb 2016 Disease Tobacco use disorder NCBI curation C0040336 11 Jul 2019 Disease Tobramycin response NCBI curation CN184545 16 Feb 2016 Pharmacological response tobramycin response - Toxicity/ADR PharmGKB 1444699308PA451704 06 Jul 2018 Pharmacological response Toe clinodactyly Human Phenotype Ontology C4021770 HP:0001863 16 Feb 2016 Finding Toe dactylitis Human Phenotype Ontology C0457085 HP:0031091 04 Apr 2018 Finding Toe extensor amyotrophy Human Phenotype Ontology C4023127 HP:0011916 16 Feb 2016 Finding Toe pain Human Phenotype Ontology C0241416 HP:0030841 02 Apr 2017 Finding Toe syndactyly Human Phenotype Ontology C0265660 HP:0001770 16 Feb 2016 Finding Toe walking Human Phenotype Ontology C0427144 HP:0040083 16 Feb 2016 Finding Toe, fifth, number of phalanges in NCBI curation C1861062 189000 16 Feb 2016 Disease Toe, misshapen NCBI curation C1861061 189100 16 Feb 2016 Disease Toe, rotated fifth NCBI curation C1861060 189150 16 Feb 2016 Disease Toenail dysplasia Human Phenotype Ontology C3276623 HP:0100797 16 Feb 2016 Finding Toes, relative length of first and second NCBI curation C1861059 189200 16 Feb 2016 Disease Toes, space between first and second NCBI curation C1861058 189230 16 Feb 2016 Disease Togaviridae disease 16 Feb 2016 Disease Togaviridae infectious disease MONDO C0040361 MONDO:0005985 04 Jun 2020 Infectious disease Tolbutamide response NCBI curation C4016718 06 Mar 2016 Pharmacological response Tollner Horst Manzke syndrome 16 Feb 2016 Disease Tolosa-Hunt syndrome MONDO C0040381 MONDO:0018983 22 Apr 2020 Disease Tolterodine response CN078021 16 Feb 2016 Pharmacological response Toluene embryopathy MONDO C2931737 MONDO:0016016 17 Apr 2020 Disease Tomato allergy MONDO MONDO:0000787 17 Apr 2020 Disease Tombstone-shaped proximal phalanges Human Phenotype Ontology C1862420 HP:0006060 16 Feb 2016 Finding Tome Brunet Fardeau syndrome 16 Feb 2016 Disease TOMM70-related neurodevelopmental disorder 07 May 2020 Finding Tongue atrophy Human Phenotype Ontology C0241423 HP:0012473 16 Feb 2016 Finding Tongue cancer 16 Feb 2016 Disease Tongue curling, folding, or rolling NCBI curation C1861055 189300 16 Feb 2016 Finding Tongue disease MONDO C0040409 MONDO:0001165 17 Apr 2020 Disease Tongue edema Human Phenotype Ontology C0151610 HP:0040315 04 Apr 2018 Finding Tongue fasciculations Human Phenotype Ontology C0239548 HP:0001308 16 Feb 2016 Finding tongue hamartoma C0431565 19 Oct 2016 Finding Tongue neoplasm MONDO MONDO:0021240 17 Apr 2020 Disease Tongue nodules Human Phenotype Ontology C0241438 HP:0000199 16 Feb 2016 Finding Tongue pain Human Phenotype Ontology C0017672 HP:0030811 02 Apr 2017 Finding Tongue telangiectasia Human Phenotype Ontology C4025878 HP:0000227 16 Feb 2016 Finding Tongue thrusting Human Phenotype Ontology C1829460 HP:0100703 16 Feb 2016 Finding Tongue tie Human Phenotype Ontology C0152415 HP:0010296 106280 10 Apr 2018 Disease Tongue, pigmented fungiform papillae of NCBI curation C1848756 275250 16 Feb 2016 Disease Tongue-like lumbar vertebral deformities Human Phenotype Ontology C4025156 HP:0005680 16 Feb 2016 Finding tonic–clonic seizures 13 Feb 2020 Finding Tonic pupil Human Phenotype Ontology C0040416 HP:0012074 16 Feb 2016 Finding Tonic-clonic epilepsy 27 Dec 2019 Disease Tonoki syndrome C1863918 603396 16 Feb 2016 Disease Tonsil cancer MONDO C0751560 MONDO:0006998 17 Apr 2020 Disease Tonsil carcinoma MONDO C0558355 MONDO:0021337 17 Apr 2020 Disease Tonsil neoplasm MONDO MONDO:0021250 17 Apr 2020 Disease Tonsil squamous cell carcinoma MONDO MONDO:0000535 17 Apr 2020 Disease Tonsillar fossa cancer MONDO C0153384 MONDO:0004690 17 Apr 2020 Disease Tonsillar lipoma MONDO C1336764 MONDO:0044885 17 Apr 2020 Disease Tonsillar lymphoma MONDO C1336765 MONDO:0044884 17 Apr 2020 Disease Tonsillar pillar cancer MONDO C0153385 MONDO:0004642 17 Apr 2020 Disease Tonsillar squamous cell carcinoma MONDO C0280317 MONDO:0006470 17 Apr 2020 Disease Tonsillectomy 23 Jan 2020 Finding Tonsillitis Human Phenotype Ontology C0040425 HP:0011110 16 Feb 2016 Finding TONSL-related condition 02 Aug 2019 Finding Tooth abscess Human Phenotype Ontology C0518988 HP:0030757 02 Apr 2017 Finding Tooth agenesis CN169366 16 Feb 2016 Disease Tooth agenesis, selective, 2 NCBI curation C1865092 602639 16 Feb 2016 Disease Tooth agenesis, selective, 3 NCBI curation C1970291 604625 16 Feb 2016 Disease Tooth agenesis, selective, 4 NCBI curation C1835492 150400 16 Feb 2016 Disease Tooth agenesis, selective, 5 NCBI curation C1858210 610926 16 Feb 2016 Disease Tooth agenesis, selective, 7 NCBI curation C4225231 616724 16 Feb 2016 Disease Tooth agenesis, selective, 8 NCBI curation C4310730 617073 24 Aug 2016 Disease Tooth agenesis, selective, 9 NCBI curation C4310638 617275 20 Jun 2017 Disease Tooth agenesis, selective, with orofacial cleft NCBI curation C1970117 16 Feb 2016 Disease Tooth agenesis, selective, X-linked, 1 NCBI curation C1970757 313500 16 Feb 2016 Disease tooth diastema 22 Aug 2019 Finding Tooth disease MONDO C0040435 MONDO:0006999 17 Apr 2020 Disease Tooth erosion, non-bacterial MONDO C0040436 MONDO:0002325 17 Apr 2020 Disease Tooth hard tissue disease MONDO C0155926 MONDO:0002220 17 Apr 2020 Disease Tooth resorption MONDO C0040451 MONDO:0001670 17 Apr 2020 Disease Tooth size NCBI curation C1839140 314240 16 Feb 2016 Disease Topographical agnosia MONDO C0271189 MONDO:0000683 17 Apr 2020 Disease Topoisomerase I antibody positivity Human Phenotype Ontology C4280741 HP:0030859 02 Apr 2017 Finding TORCH syndrome C0270173 16 Feb 2016 Disease Toriello-Carey syndrome MONDO C0796184 MONDO:0009021 217980 22 Apr 2020 Disease Toriello-Lacassie-Droste syndrome MONDO C1838329 MONDO:0010854 600268 22 Apr 2020 Disease Torovirus infectious disease MONDO C0206607 MONDO:0005986 04 Jun 2020 Infectious disease Torsade de pointes Human Phenotype Ontology C1963250 HP:0001664 16 Feb 2016 Finding Torsade de pointes, short-coupled variant NCBI curation C3150851 613600 16 Feb 2016 Disease Torsades de pointes NCBI curation C0040479 16 Feb 2016 Disease Torsades de Pointes, drugNot providedinduced, association with NCBI curation 16 Feb 2016 Disease Torsion dystonia Human Phenotype Ontology C0013423 HP:0001304 16 Feb 2016 Disease Torsion dystonia 13 MONDO C1843264 MONDO:0011886 607671 22 Apr 2020 Disease Torsion dystonia 17 MONDO C2676281 MONDO:0012895 612406 17 Apr 2020 Disease Torsion dystonia 2 MONDO C1857093 MONDO:0009141 224500 17 Apr 2020 Disease Torsion dystonia 6 MONDO C1414216 MONDO:0011264 602629 22 Apr 2020 Disease Torsion dystonia 7 MONDO C1865818 MONDO:0011200 602124 22 Apr 2020 Disease Torsion dystonia with onset in infancy C1865205 602554 16 Feb 2016 Disease Torsion of the penis Human Phenotype Ontology C1407019 HP:0030263 16 Feb 2016 Finding Torticollis Human Phenotype Ontology C0040485 HP:0000473 189600 16 Feb 2016 Disease Torticollis, familial C3710741 16 Feb 2016 Disease Torticollis-keloids-cryptorchidism-renal dysplasia syndrome MONDO C1839129 MONDO:0010748 314300 17 Apr 2020 Disease Tortuosity of conjunctival vessels Human Phenotype Ontology C1855391 HP:0000503 16 Feb 2016 Finding Tortuosity of the vertebrobasilar system NCBI curation CN240899 08 Mar 2017 Finding Tortuous cerebral arteries Human Phenotype Ontology C1836791 HP:0004938 16 Feb 2016 Finding Torus palatinus Human Phenotype Ontology C0266981 HP:0100789 16 Feb 2016 Finding Torus palatinus and torus mandibularis NCBI curation C1861044 189700 16 Feb 2016 Disease Tositumomab response CN078022 16 Feb 2016 Pharmacological response Total absence of the pericardium Human Phenotype Ontology C0345140 HP:0011629 16 Feb 2016 Finding Total absence von Willebrand factor multimers Human Phenotype Ontology C4022614 HP:0030134 02 Apr 2017 Finding Total anosmia Human Phenotype Ontology C4023768 HP:0010632 16 Feb 2016 Finding Total autosomal monosomy MONDO CN261588 MONDO:0020053 17 Apr 2020 Disease Total autosomal trisomy MONDO CN229260 MONDO:0020051 17 Apr 2020 Disease Total cataract Human Phenotype Ontology C3665439 HP:0010700 16 Feb 2016 Finding Total central choroidal atrophy MONDO MONDO:0004889 17 Apr 2020 Disease Total circumpapillary dystrophy of choroid MONDO C0154896 MONDO:0004898 17 Apr 2020 Disease Total colonic aganglionosis Human Phenotype Ontology C0085758 HP:0011286 16 Feb 2016 Finding Total hyposmia Human Phenotype Ontology C4023766 HP:0010634 16 Feb 2016 Finding Total immunoglobulin A deficiency Human Phenotype Ontology C4025611 HP:0003460 16 Feb 2016 Finding Total internal ophthalmoplegia MONDO C0152197 MONDO:0001211 17 Apr 2020 Disease Total ophthalmoplegia Human Phenotype Ontology C0155338 HP:0007824 16 Feb 2016 Finding Total retinal detachment NCBI curation C2063431 16 Feb 2016 Finding Total spina bifida aperta MONDO CN202422 MONDO:0017063 17 Apr 2020 Disease Total spina bifida cystica MONDO CN202430 MONDO:0017070 17 Apr 2020 Disease Total third-nerve palsy MONDO C0271371 MONDO:0001145 17 Apr 2020 Disease Touraine Solente Gole syndrome 16 Feb 2016 Disease Tourette Syndrome GeneReviews C0040517 NBK21138 137580 16 Feb 2016 Disease Townes syndrome NCBI curation C0265246 09 Oct 2017 Disease Townes-Brocks syndrome 1 NCBI curation C4551481 107480 09 Oct 2017 Disease Townes-Brocks syndrome 2 NCBI curation C4479534 617466 21 Jun 2017 Disease Townes-Brocks-branchiootorenal-like syndrome NCBI curation C1862683 16 Feb 2016 Disease Toxascariasis MONDO C0040522 MONDO:0005987 04 Jun 2020 Infectious disease Toxemia of pregnancy Human Phenotype Ontology C4551893 HP:0100603 04 Apr 2018 Finding Toxic amblyopia MONDO C0237979 MONDO:0041403 17 Apr 2020 Disease Toxic Conjunctivitis 16 Feb 2016 Disease Toxic dermatosis MONDO CN227123 MONDO:0017396 17 Apr 2020 Disease Toxic diffuse goiter MONDO MONDO:0001104 17 Apr 2020 Disease Toxic encephalopathy MONDO MONDO:0005527 17 Apr 2020 Disease Toxic epidermal necrolysis NCBI curation C0014518 06 Jul 2018 Disease Toxic labyrinthitis MONDO C0155507 MONDO:0001874 17 Apr 2020 Disease Toxic liver disease PharmGKB C0348754 18 May 2016 Disease Toxic maculopathy MONDO C0271086 MONDO:0004904 17 Apr 2020 Disease Toxic maculopathy due to antimalarial drugs MONDO CN202676 MONDO:0017204 17 Apr 2020 Disease Toxic megacolon MONDO C0025162 MONDO:0002105 17 Apr 2020 Disease Toxic myocarditis MONDO C0155691 MONDO:0004851 17 Apr 2020 Disease Toxic oil syndrome MONDO MONDO:0016421 17 Apr 2020 Disease Toxic optic neuropathy MONDO C0155303 MONDO:0001688 17 Apr 2020 Disease Toxic or drug-related embryofetopathy MONDO CN229059 MONDO:0016677 17 Apr 2020 Disease Toxic or nutritional optic neuropathy MONDO C0155302 MONDO:0001431 17 Apr 2020 Disease Toxic pneumonitis MONDO C3714582 MONDO:0003479 17 Apr 2020 Disease Toxicodendron dermatitis MONDO C0032342 MONDO:0006616 17 Apr 2020 Disease Toxin-mediated infectious botulism MONDO CN281664 MONDO:0016468 04 Jun 2020 Infectious disease Toxocariasis C0040553 16 Feb 2016 Infectious disease Toxoplasmosis MONDO C0040558 MONDO:0005989 04 Jun 2020 Infectious disease TP63-Related Spectrum Disorders CN239305 02 Dec 2016 Disease TPM2-related cap myopathy NCBI curation C2750413 16 Feb 2016 Disease TPM2-Related Disorders 23 May 2019 Disease TPM3-related myopathy MONDO MONDO:0100108 17 Apr 2020 Disease Trabecular adenocarcinoma NCBI curation C0302182 02 Mar 2017 Disease Trabecular fiber myopathy 16 Feb 2016 Disease Trabecular follicular adenocarcinoma MONDO C0334327 MONDO:0002821 17 Apr 2020 Disease Trachea carcinoma MONDO C1744708 MONDO:0003184 17 Apr 2020 Disease Trachea carcinoma in situ MONDO C0154070 MONDO:0004661 17 Apr 2020 Disease Trachea leiomyoma MONDO C1336772 MONDO:0002318 17 Apr 2020 Disease Trachea mucoepidermoid carcinoma MONDO C3873401 MONDO:0000534 17 Apr 2020 Disease Trachea sarcoma MONDO C1336774 MONDO:0001418 17 Apr 2020 Disease Trachea squamous cell carcinoma MONDO C0345946 MONDO:0001419 17 Apr 2020 Disease Tracheal adenoid cystic carcinoma MONDO C0345945 MONDO:0006471 17 Apr 2020 Disease Tracheal agenesis C1261567 16 Feb 2016 Disease Tracheal agenesis without tracheoesophageal fistula 16 Feb 2016 Disease Tracheal anomaly MONDO CN226694 MONDO:0015505 17 Apr 2020 Disease Tracheal atresia Human Phenotype Ontology C0265766 HP:0100682 16 Feb 2016 Finding Tracheal calcification Human Phenotype Ontology C0264324 HP:0002787 16 Feb 2016 Finding Tracheal cancer MONDO C0153489 MONDO:0001407 17 Apr 2020 Disease Tracheal lymphoma MONDO C1336773 MONDO:0001417 17 Apr 2020 Disease Tracheal stenosis Human Phenotype Ontology C0040583 HP:0002777 16 Feb 2016 Finding Tracheal tug on inspiration Human Phenotype Ontology C4293704 HP:0025008 02 Apr 2017 Finding Tracheitis MONDO C0040584 MONDO:0005990 04 Jun 2020 Infectious disease Tracheo-esophageal fistula-hypospadias syndrome MONDO MONDO:0016082 17 Apr 2020 Disease Tracheobroncheopathia osteoplastica NCBI curation C3887588 189961 16 Feb 2016 Disease Tracheobronchial leiomyomatosis Human Phenotype Ontology C3806786 HP:0006524 16 Feb 2016 Finding Tracheobronchial stenosis, congenital NCBI curation C1863703 603569 16 Feb 2016 Disease Tracheobronchitis MONDO C0040586 MONDO:0021925 17 Apr 2020 Disease Tracheobronchmegaly Human Phenotype Ontology C4023707 HP:0010776 16 Feb 2016 Finding Tracheobronchomalacia Human Phenotype Ontology C0340231 HP:0002786 211450 16 Feb 2016 Disease Tracheobronchomegaly C0040587 275300 16 Feb 2016 Disease Tracheoesophageal defect 12 Jun 2020 Finding Tracheoesophageal fistula Human Phenotype Ontology C1861028 HP:0002575 189960 16 Feb 2016 Finding Tracheoesophageal fistula symphalangism 16 Feb 2016 Disease Tracheoesophageal Fistula type C 10 Jun 2020 Finding Tracheomalacia Human Phenotype Ontology C0948187 HP:0002779 16 Feb 2016 Finding Tracheomegaly Human Phenotype Ontology C4023705 HP:0010778 16 Feb 2016 Finding Tracheophageal fistula hypospadias 16 Feb 2016 Disease Trachoma C0040592 16 Feb 2016 Infectious disease Trachyonychia Human Phenotype Ontology C0546956 HP:0030804 02 Apr 2017 Finding Tractional retinal detachment Human Phenotype Ontology C0154828 HP:0007917 16 Feb 2016 Finding TRAF7-related developmental delay, congenital anomalies, and dysmorphic features 13 Dec 2018 Finding Tragal bridge of crus of helix Human Phenotype Ontology C4021182 HP:0011258 16 Feb 2016 Finding Tramadol response NCBI curation CN078023 16 Feb 2016 Pharmacological response tramadol response - Dosage PharmGKB CN236548 1444704833 18 May 2016 Pharmacological response tramadol response - Dosage, Efficacy PharmGKB 1444704833PA451735 06 Jul 2018 Pharmacological response tramadol response - Dosage, Efficacy, Metabolism/PK PharmGKB 982034197PA451735 06 Jul 2018 Pharmacological response tramadol response - Metabolism/PK PharmGKB CN236606 982034197 18 May 2016 Pharmacological response Trametinib-Dabrafenib Response 29 Mar 2020 Pharmacological response Tranebjaerg Svejgaard syndrome 16 Feb 2016 Disease transaminitis C2242708 16 Feb 2016 Finding Transcobalamin I deficiency C0342700 193090 16 Feb 2016 Disease Transcobalamin i deficiency with lactoferrin deficiency NCBI curation CN042687 16 Feb 2016 Disease Transcobalamin II deficiency C0342701 275350 16 Feb 2016 Disease TRANSCOBALAMIN II POLYMORPHISM 05 Dec 2019 Disease Transcolabamin II deficiency NCBI curation 26 May 2016 Disease Transcription level of plasminogen activator inhibitor 1 NCBI curation C4016325 16 Feb 2016 Disease Transferrin serum level quantitative trait locus 1 NCBI curation 16 Feb 2016 Disease Transferrin serum level quantitative trait locus 2 NCBI curation C3280096 614193 16 Feb 2016 Disease Transferrin variant b2 NCBI curation 16 Feb 2016 Disease Transferrin variant bv NCBI curation 16 Feb 2016 Disease Transferrin variant c1/c2 NCBI curation 16 Feb 2016 Disease Transferrin variant chi NCBI curation 16 Feb 2016 Disease Transferrin variant d1 NCBI curation 16 Feb 2016 Disease Transient acantholytic dermatosis 16 Feb 2016 Disease transient alteration of awareness 05 Sep 2019 Finding transient alterations of awareness 05 Sep 2019 Finding Transient aminoaciduria Human Phenotype Ontology C4024713 HP:0008273 16 Feb 2016 Finding Transient arthritis MONDO C3887596 MONDO:0002204 17 Apr 2020 Disease Transient arthropathy MONDO C0152083 MONDO:0001429 17 Apr 2020 Disease Transient bullous dermolysis of the newborn C1851573 131705 16 Feb 2016 Disease Transient congenital hypothyroidism MONDO C3827793 MONDO:0015792 17 Apr 2020 Disease Transient congenital hypothyroidism due to maternal factor MONDO CN226958 MONDO:0016555 17 Apr 2020 Disease Transient congenital hypothyroidism due to neonatal factor MONDO CN226959 MONDO:0016556 17 Apr 2020 Disease Transient erythroblastopenia Human Phenotype Ontology C4082199 HP:0005510 16 Feb 2016 Finding Transient erythroblastopenia of childhood C0238478 227050 16 Feb 2016 Disease Transient global amnesia Human Phenotype Ontology C0338591 HP:0010534 16 Feb 2016 Disease Transient global amnesia (disease) MONDO MONDO:0001617 17 Apr 2020 Disease Transient hearing impairment Human Phenotype Ontology C4022724 HP:0012779 16 Feb 2016 Finding Transient hyperammonemia of the newborn MONDO CN203020 MONDO:0017357 17 Apr 2020 Disease Transient hyperlipidemia Human Phenotype Ontology C1850722 HP:0008279 16 Feb 2016 Finding Transient hyperphenylalaninemia Human Phenotype Ontology C0268464 HP:0008297 16 Feb 2016 Finding Transient hypogammaglobulinemia MONDO C0859960 MONDO:0003827 17 Apr 2020 Disease Transient hypogammaglobulinemia of infancy Human Phenotype Ontology C0272238 HP:0005432 16 Feb 2016 Finding Transient hypophosphatemia Human Phenotype Ontology C4024709 HP:0008285 16 Feb 2016 Finding Transient ischemic attack Human Phenotype Ontology C0007787 HP:0002326 16 Feb 2016 Finding Transient ischemic attack (disease) MONDO MONDO:0005264 17 Apr 2020 Disease Transient myeloproliferative disorder of Down syndrome NCBI curation C1860788 16 Feb 2016 Disease Transient myeloproliferative syndrome (disease) MONDO C1834582 MONDO:0008040 159595 17 Apr 2020 Disease Transient neonatal arthrogryposis 16 Feb 2016 Disease Transient neonatal diabetes mellitus 1 NCBI curation C1832386 601410 16 Feb 2016 Disease Transient neonatal diabetes mellitus 2 NCBI curation C1835887 610374 16 Feb 2016 Disease Transient neonatal diabetes mellitus 3 NCBI curation C1864623 610582 16 Feb 2016 Disease Transient Neonatal Diabetes, Dominant CN239283 02 Dec 2016 Disease Transient Neonatal Diabetes, Dominant/Recessive CN239353 02 Dec 2016 Disease Transient Neonatal Diabetes, Recessive CN239376 02 Dec 2016 Disease Transient neonatal jaundiced CN238750 19 Oct 2016 Finding Transient neonatal multiple acyl-CoA dehydrogenase deficiency MONDO C4509950 MONDO:0018014 17 Apr 2020 Disease Transient neonatal neutropenia MONDO C0158997 MONDO:0001241 17 Apr 2020 Disease Transient neonatal thrombocytopenia MONDO C0158991 MONDO:0004877 17 Apr 2020 Disease Transient nephrotic syndrome Human Phenotype Ontology C4024638 HP:0008695 16 Feb 2016 Finding Transient pseudohypoaldosteronism MONDO C4273962 MONDO:0019643 17 Apr 2020 Disease Transient psychotic episodes Human Phenotype Ontology C4024958 HP:0006932 16 Feb 2016 Finding Transient pulmonary infiltrates Human Phenotype Ontology C3805920 HP:0005828 16 Feb 2016 Finding Transient refractive change MONDO C0155000 MONDO:0001390 17 Apr 2020 Disease Transient retinal arterial occlusion MONDO C0154840 MONDO:0004583 17 Apr 2020 Disease Transient tic disorder MONDO C0040702 MONDO:0002419 17 Apr 2020 Disease Transient tyrosinemia of the newborn MONDO CN204402 MONDO:0018083 17 Apr 2020 Disease Transient unilateral blurring of vision Human Phenotype Ontology C1865332 HP:0001125 16 Feb 2016 Finding Transitional atrioventricular canal defect Human Phenotype Ontology C4023289 HP:0011578 16 Feb 2016 Finding Transitional cell carcinoma C0007138 16 Feb 2016 Disease Transitional cell carcinoma of the bladder Human Phenotype Ontology C0279680 HP:0006740 16 Feb 2016 Finding Transitional cell neoplasm MONDO C0334265 MONDO:0037254 17 Apr 2020 Disease Transitional cell papilloma MONDO C0334266 MONDO:0005605 17 Apr 2020 Disease Transitional meningioma MONDO C0334611 MONDO:0004146 17 Apr 2020 Disease Transitory neonatal diabetes mellitus NCBI curation C0342273 16 Feb 2016 Disease Transplacental infections 16 Feb 2016 Disease transplant rejection PharmGKB CN236688 06 Jul 2018 Disease Transplantation PharmGKB CN236682 18 May 2016 Disease Transposition C0040759 18 Jan 2019 Finding Transposition of the great arteries C0040761 16 Feb 2016 Disease Transposition of the great arteries and conotruncal cardiac anomaly MONDO CN227847 MONDO:0020285 17 Apr 2020 Disease Transposition of the great arteries with intact ventricular septum 16 Feb 2016 Finding Transposition of the great arteries, dextro-looped 1 NCBI curation C1837341 608808 01 Jul 2017 Disease Transposition of the great arteries, dextro-looped 3 NCBI curation C3151221 613854 16 Feb 2016 Disease Transposition of the great vessels 19 Jul 2018 Finding Transsexuality NCBI curation C1833064 600952 16 Feb 2016 Disease Transthyretin cardiac amyloidosis Human Phenotype Ontology C4531196 HP:0031327 04 Apr 2018 Finding TRANSTHYRETIN POLYMORPHISM 16 Feb 2016 Disease TRANSTHYRETIN POLYMORPHISM, ACIDIC 16 Feb 2016 Disease Transudative pleural effusion Human Phenotype Ontology C0020312 HP:0011920 16 Feb 2016 Finding Transverse colon cancer MONDO C0153434 MONDO:0002361 17 Apr 2020 Disease Transverse facial cleft Human Phenotype Ontology C4020954 HP:0100731 16 Feb 2016 Finding Transverse limb deficiency hemangioma 16 Feb 2016 Disease Transverse myelitis C0026976 16 Feb 2016 Disease Transverse vaginal septum Human Phenotype Ontology C1856006 HP:0000145 16 Feb 2016 Finding Trapezoidal distal femoral condyles Human Phenotype Ontology C1843983 HP:0006432 16 Feb 2016 Finding Trapezoidal shaped vertebral bodies Human Phenotype Ontology C4025171 HP:0005621 16 Feb 2016 Finding Trastuzumab response NCBI curation CN078025 16 Feb 2016 Pharmacological response trastuzumab response - Efficacy PharmGKB CN236585 1185003571 18 May 2016 Pharmacological response Traumatic avascular necrosis MONDO CN229155 MONDO:0018375 17 Apr 2020 Disease Traumatic encephalopathy MONDO C0236959 MONDO:0043512 17 Apr 2020 Disease Traumatic glaucoma MONDO C0339594 MONDO:0001626 17 Apr 2020 Disease Traumatic myositis ossificans MONDO C0040798 MONDO:0021929 17 Apr 2020 Disease Treacher Collins syndrome OMIM phenotypic series C0242387 PS154500 16 Feb 2016 Disease Treacher Collins syndrome 1 NCBI curation CN119605 154500 04 Nov 2016 Disease Treacher Collins syndrome 2 NCBI curation C3150983 613717 04 Nov 2016 Disease Treacher Collins syndrome 3 MONDO C1855433 MONDO:0009558 248390 22 Apr 2020 Disease Treacher Collins Syndrome, Dominant CN239287 02 Dec 2016 Disease Treacher Collins Syndrome, Recessive CN239289 02 Dec 2016 Disease Treatment for disease MONDO MONDO:0022200 17 Apr 2020 Disease Treatment-refractory schizophrenia MONDO MONDO:0005414 17 Apr 2020 Disease Trefoil tongue NCBI curation 16 Feb 2016 Disease Treft Sanborn Carey syndrome 16 Feb 2016 Disease Tremor Human Phenotype Ontology C0040822 HP:0001337 16 Feb 2016 Finding Tremor by anatomical site Human Phenotype Ontology C4022593 HP:0030188 16 Feb 2016 Finding Tremor of intention, ataxia, and lipofuscinosis NCBI curation C1860872 190200 16 Feb 2016 Disease Tremor, hereditary essential, 3 NCBI curation C1969617 611456 16 Feb 2016 Disease Tremor, hereditary essential, 4 NCBI curation C3539195 614782 16 Feb 2016 Disease Tremor, hereditary essential, 5 NCBI curation C4225223 616736 16 Feb 2016 Disease TREMOR, HEREDITARY ESSENTIAL, 6 OMIM CN280880 618866 618866 06 May 2020 Disease Tremor, hereditary essential, and idiopathic normal pressure hydrocephalus NCBI curation C2678494 611808 16 Feb 2016 Disease Tremor, nystagmus, and duodenal ulcer NCBI curation C1860860 190310 16 Feb 2016 Disease Tremor-ataxia-central hypomyelination syndrome MONDO CN237714 MONDO:0018656 17 Apr 2020 Disease tremors CN225586 16 Feb 2016 Finding tremors of both hands 05 Sep 2019 Finding Tremors, nystagmus and duodenal ulcers 16 Feb 2016 Disease Trench fever MONDO C0040830 MONDO:0005991 04 Jun 2020 Infectious disease Treponema infection 16 Feb 2016 Disease Treponema infectious disease MONDO CN281661 MONDO:0007000 04 Jun 2020 Infectious disease Tretinoin response CN078026 16 Feb 2016 Pharmacological response TREX1-Related Disorders CN239414 02 Dec 2016 Disease tri-phalangeal right thumb 19 Jul 2019 Finding triamcinolone response - Efficacy PharmGKB CN236586 827864250 18 May 2016 Pharmacological response Triangular appearance to lower face 23 Jan 2020 Finding triangular bird-like face CN186931 16 Feb 2016 Finding Triangular epiphyses Human Phenotype Ontology C4023784 HP:0010587 16 Feb 2016 Finding Triangular epiphyses of the 2nd finger Human Phenotype Ontology C4024328 HP:0009498 16 Feb 2016 Finding Triangular epiphyses of the 2nd toe Human Phenotype Ontology C4022367 HP:0100054 16 Feb 2016 Finding Triangular epiphyses of the 3rd finger Human Phenotype Ontology C4021479 HP:0009420 16 Feb 2016 Finding Triangular epiphyses of the 3rd toe Human Phenotype Ontology C4022356 HP:0100065 16 Feb 2016 Finding Triangular epiphyses of the 4th finger Human Phenotype Ontology C4021482 HP:0009403 16 Feb 2016 Finding Triangular epiphyses of the 4th toe Human Phenotype Ontology C4022345 HP:0100076 16 Feb 2016 Finding Triangular epiphyses of the 5th finger Human Phenotype Ontology C4021483 HP:0009392 16 Feb 2016 Finding Triangular epiphyses of the 5th toe Human Phenotype Ontology C4022334 HP:0100087 16 Feb 2016 Finding Triangular epiphyses of the distal phalanges of the hand Human Phenotype Ontology C4023944 HP:0010256 16 Feb 2016 Finding Triangular epiphyses of the hallux Human Phenotype Ontology C4024036 HP:0010123 16 Feb 2016 Finding Triangular epiphyses of the metacarpals Human Phenotype Ontology C4024558 HP:0009171 16 Feb 2016 Finding Triangular epiphyses of the middle phalanges of the hand Human Phenotype Ontology C4023934 HP:0010267 16 Feb 2016 Finding Triangular epiphyses of the phalanges of the hand Human Phenotype Ontology C4021303 HP:0010238 16 Feb 2016 Finding Triangular epiphyses of the proximal phalanges of the hand Human Phenotype Ontology C4023923 HP:0010278 16 Feb 2016 Finding Triangular epiphyses of the thumb Human Phenotype Ontology C4024231 HP:0009696 16 Feb 2016 Finding Triangular epiphyses of the toes Human Phenotype Ontology C4023988 HP:0010172 16 Feb 2016 Finding Triangular epiphysis of the 1st metacarpal Human Phenotype Ontology C4024099 HP:0010025 16 Feb 2016 Finding Triangular epiphysis of the 1st metatarsal Human Phenotype Ontology C4024000 HP:0010159 16 Feb 2016 Finding Triangular epiphysis of the distal phalanx of the 2nd finger Human Phenotype Ontology C4024319 HP:0009512 16 Feb 2016 Finding Triangular epiphysis of the distal phalanx of the 2nd toe Human Phenotype Ontology C4022311 HP:0100110 16 Feb 2016 Finding Triangular epiphysis of the distal phalanx of the 3rd finger Human Phenotype Ontology C4021489 HP:0009345 16 Feb 2016 Finding Triangular epiphysis of the distal phalanx of the 3rd toe Human Phenotype Ontology C4022276 HP:0100145 16 Feb 2016 Finding Triangular epiphysis of the distal phalanx of the 4th finger Human Phenotype Ontology C4021507 HP:0009260 16 Feb 2016 Finding Triangular epiphysis of the distal phalanx of the 4th toe Human Phenotype Ontology C4022242 HP:0100179 16 Feb 2016 Finding Triangular epiphysis of the distal phalanx of the 5th finger Human Phenotype Ontology C4021519 HP:0009149 16 Feb 2016 Finding Triangular epiphysis of the distal phalanx of the 5th toe Human Phenotype Ontology C4022209 HP:0100212 16 Feb 2016 Finding Triangular epiphysis of the distal phalanx of the hallux Human Phenotype Ontology C4024011 HP:0010148 16 Feb 2016 Finding Triangular epiphysis of the distal phalanx of the thumb Human Phenotype Ontology C4024234 HP:0009685 16 Feb 2016 Finding Triangular epiphysis of the middle phalanx of the 2nd finger Human Phenotype Ontology C4024310 HP:0009523 16 Feb 2016 Finding Triangular epiphysis of the middle phalanx of the 2nd toe Human Phenotype Ontology C4022300 HP:0100121 16 Feb 2016 Finding Triangular epiphysis of the middle phalanx of the 3rd finger Human Phenotype Ontology C4021490 HP:0009331 16 Feb 2016 Finding Triangular epiphysis of the middle phalanx of the 3rd toe Human Phenotype Ontology C4022265 HP:0100156 16 Feb 2016 Finding Triangular epiphysis of the middle phalanx of the 4th finger Human Phenotype Ontology C4021510 HP:0009224 16 Feb 2016 Finding Triangular epiphysis of the middle phalanx of the 4th toe Human Phenotype Ontology C4022231 HP:0100190 16 Feb 2016 Finding Triangular epiphysis of the middle phalanx of the 5th finger Human Phenotype Ontology C4021511 HP:0009213 16 Feb 2016 Finding Triangular epiphysis of the middle phalanx of the 5th toe Human Phenotype Ontology C4022198 HP:0100223 16 Feb 2016 Finding Triangular epiphysis of the proximal phalanx of the 2nd finger Human Phenotype Ontology C4021454 HP:0009534 16 Feb 2016 Finding Triangular epiphysis of the proximal phalanx of the 2nd toe Human Phenotype Ontology C4022289 HP:0100132 16 Feb 2016 Finding Triangular epiphysis of the proximal phalanx of the 3rd finger Human Phenotype Ontology C4021487 HP:0009356 16 Feb 2016 Finding Triangular epiphysis of the proximal phalanx of the 3rd toe Human Phenotype Ontology C4022254 HP:0100167 16 Feb 2016 Finding Triangular epiphysis of the proximal phalanx of the 4th finger Human Phenotype Ontology C4021505 HP:0009271 16 Feb 2016 Finding Triangular epiphysis of the proximal phalanx of the 4th toe Human Phenotype Ontology C4022220 HP:0100201 16 Feb 2016 Finding Triangular epiphysis of the proximal phalanx of the 5th finger Human Phenotype Ontology C4021518 HP:0009154 16 Feb 2016 Finding Triangular epiphysis of the proximal phalanx of the 5th toe Human Phenotype Ontology C4022187 HP:0100234 16 Feb 2016 Finding Triangular epiphysis of the proximal phalanx of the hallux Human Phenotype Ontology C4024022 HP:0010137 16 Feb 2016 Finding Triangular epiphysis of the proximal phalanx of the thumb Human Phenotype Ontology C4024243 HP:0009674 16 Feb 2016 Finding Triangular face Human Phenotype Ontology C1835884 HP:0000325 16 Feb 2016 Finding Triangular humerus Human Phenotype Ontology C4025530 HP:0003884 16 Feb 2016 Finding Triangular mouth Human Phenotype Ontology C1849341 HP:0000207 16 Feb 2016 Finding Triangular nasal tip Human Phenotype Ontology C1839765 HP:0000451 16 Feb 2016 Finding Triangular nuclear cataract Human Phenotype Ontology C4023733 HP:0010699 16 Feb 2016 Finding Triangular shaped 1st metacarpal Human Phenotype Ontology C4024092 HP:0010033 16 Feb 2016 Finding Triangular shaped 1st metatarsal Human Phenotype Ontology C4024070 HP:0010074 16 Feb 2016 Finding Triangular shaped distal phalanges of the hand Human Phenotype Ontology C4024176 HP:0009875 16 Feb 2016 Finding Triangular shaped distal phalanges of the toes Human Phenotype Ontology C4023977 HP:0010192 16 Feb 2016 Finding Triangular shaped distal phalanx of the 2nd finger Human Phenotype Ontology C4024289 HP:0009564 16 Feb 2016 Finding Triangular shaped distal phalanx of the 2nd toe Human Phenotype Ontology C4023836 HP:0010420 16 Feb 2016 Finding Triangular shaped distal phalanx of the 3rd finger Human Phenotype Ontology C4024370 HP:0009427 16 Feb 2016 Finding Triangular shaped distal phalanx of the 4th finger Human Phenotype Ontology C4024455 HP:0009306 16 Feb 2016 Finding Triangular shaped distal phalanx of the 5th finger Human Phenotype Ontology C4024502 HP:0009245 16 Feb 2016 Finding Triangular shaped distal phalanx of the 5th toe Human Phenotype Ontology C4022044 HP:0100487 16 Feb 2016 Finding Triangular shaped distal phalanx of the hallux Human Phenotype Ontology C4024062 HP:0010083 16 Feb 2016 Finding Triangular shaped distal phalanx of the thumb Human Phenotype Ontology C4024257 HP:0009648 16 Feb 2016 Finding Triangular shaped middle phalanges of the hand Human Phenotype Ontology C4024183 HP:0009850 16 Feb 2016 Finding Triangular shaped middle phalanges of the toes Human Phenotype Ontology C4023972 HP:0010201 16 Feb 2016 Finding Triangular shaped middle phalanx of the 2nd finger Human Phenotype Ontology C4024283 HP:0009575 16 Feb 2016 Finding Triangular shaped middle phalanx of the 2nd toe Human Phenotype Ontology C4023844 HP:0010411 16 Feb 2016 Finding Triangular shaped middle phalanx of the 3rd finger Human Phenotype Ontology C4024362 HP:0009436 16 Feb 2016 Finding Triangular shaped middle phalanx of the 4th finger Human Phenotype Ontology C4024452 HP:0009309 16 Feb 2016 Finding Triangular shaped middle phalanx of the 5th finger Human Phenotype Ontology C4024552 HP:0009182 16 Feb 2016 Finding Triangular shaped phalanges of the 2nd finger Human Phenotype Ontology C4021445 HP:0009546 16 Feb 2016 Finding Triangular shaped phalanges of the 2nd toe Human Phenotype Ontology C4023886 HP:0010354 16 Feb 2016 Finding Triangular shaped phalanges of the 3rd finger Human Phenotype Ontology C4024357 HP:0009446 16 Feb 2016 Finding Triangular shaped phalanges of the 3rd toe Human Phenotype Ontology C4023879 HP:0010366 16 Feb 2016 Finding Triangular shaped phalanges of the 4th finger Human Phenotype Ontology C4024385 HP:0009407 16 Feb 2016 Finding Triangular shaped phalanges of the 4th toe Human Phenotype Ontology C4023871 HP:0010378 16 Feb 2016 Finding Triangular shaped phalanges of the 5th finger Human Phenotype Ontology C4024409 HP:0009378 16 Feb 2016 Finding Triangular shaped phalanges of the 5th toe Human Phenotype Ontology C4023863 HP:0010390 16 Feb 2016 Finding Triangular shaped phalanges of the hallux Human Phenotype Ontology C4024077 HP:0010065 16 Feb 2016 Finding Triangular shaped phalanges of the hand Human Phenotype Ontology C2673397 HP:0009774 16 Feb 2016 Finding Triangular shaped phalanges of the toes Human Phenotype Ontology C4023983 HP:0010180 16 Feb 2016 Finding Triangular shaped proximal phalanges of the hand Human Phenotype Ontology C4024177 HP:0009858 16 Feb 2016 Finding Triangular shaped proximal phalanges of the toes Human Phenotype Ontology C4023969 HP:0010210 16 Feb 2016 Finding Triangular shaped proximal phalanx of the 2nd finger Human Phenotype Ontology C4021432 HP:0009587 16 Feb 2016 Finding Triangular shaped proximal phalanx of the 2nd toe Human Phenotype Ontology C4023852 HP:0010402 16 Feb 2016 Finding Triangular shaped proximal phalanx of the 3rd finger Human Phenotype Ontology C4024349 HP:0009456 16 Feb 2016 Finding Triangular shaped proximal phalanx of the 4th finger Human Phenotype Ontology C4024447 HP:0009315 16 Feb 2016 Finding Triangular shaped proximal phalanx of the 5th finger Human Phenotype Ontology C4024511 HP:0009233 16 Feb 2016 Finding Triangular shaped proximal phalanx of the hallux Human Phenotype Ontology C4024055 HP:0010092 16 Feb 2016 Finding Triangular shaped proximal phalanx of the thumb Human Phenotype Ontology C4021419 HP:0009636 16 Feb 2016 Finding Triangular shaped thumb phalanx Human Phenotype Ontology C4021412 HP:0009657 16 Feb 2016 Finding Triangular tibia Human Phenotype Ontology C4531241 HP:0031260 04 Apr 2018 Finding Triangular tongue Human Phenotype Ontology C4022537 HP:0030284 16 Feb 2016 Finding Triangular-shaped open mouth Human Phenotype Ontology C1859292 HP:0200096 16 Feb 2016 Finding Triatrial heart MONDO C0009995 MONDO:0015450 17 Apr 2020 Disease Triatrial heart Human Phenotype Ontology C0009995 HP:0010774 17 Apr 2020 Disease Tricarboxylic acid cycle disorder MONDO CN227000 MONDO:0016790 17 Apr 2020 Disease Tricarboxylic acid cycle, defect of NCBI curation C1848746 275370 16 Feb 2016 Disease Triceps aplasia Human Phenotype Ontology C3810484 HP:0009785 16 Feb 2016 Finding Triceps hypoplasia Human Phenotype Ontology C4021954 HP:0100855 16 Feb 2016 Finding Triceps weakness Human Phenotype Ontology C2230441 HP:0031108 04 Apr 2018 Finding Trichiasis Human Phenotype Ontology C0221259 HP:0001128 16 Feb 2016 Finding Trichilemmal cyst Human Phenotype Ontology C2266788 HP:0025246 02 Apr 2017 Finding Trichilemmal cyst 1 NCBI curation C1864801 609649 16 Feb 2016 Disease Trichilemmoma Human Phenotype Ontology C0334263 HP:0012844 16 Feb 2016 Finding Trichinella spiralis infectious disease MONDO C3887668 MONDO:0042458 04 Jun 2020 Infectious disease Tricho odonto onycho dermal syndrome 16 Feb 2016 Disease Tricho odonto onychodysplasia syndactyly dominant type 16 Feb 2016 Disease Tricho onychic dysplasia 16 Feb 2016 Disease Tricho onycho hypohidrotic dysplasia 16 Feb 2016 Disease Tricho retino dento digital syndrome 16 Feb 2016 Disease Tricho-dento-osseous syndrome C0265333 190320 16 Feb 2016 Disease Tricho-dento-osseous syndrome 1 NCBI curation C2931236 16 Feb 2016 Disease Trichoblastoma MONDO MONDO:0020593 17 Apr 2020 Disease Trichodental syndrome NCBI curation C0406724 601453 16 Feb 2016 Disease Trichodermodysplasia dental alterations 16 Feb 2016 Disease Trichodermodysplasia-dental alterations syndrome MONDO C2931485 MONDO:0018061 17 Apr 2020 Disease Trichodysplasia Human Phenotype Ontology C4025700 HP:0002552 16 Feb 2016 Finding Trichodysplasia-amelogenesis imperfecta syndrome MONDO CN205796 MONDO:0019205 17 Apr 2020 Disease Trichodysplasia-xeroderma NCBI curation C1860822 190360 16 Feb 2016 Disease Trichoepithelioma Human Phenotype Ontology C0349658 HP:0025367 02 Apr 2017 Finding Trichoepithelioma, multiple familial, 2 MONDO C2677505 MONDO:0012800 612099 22 Apr 2020 Disease Trichoepitheliomas, multiple desmoplastic NCBI curation C1860849 190345 16 Feb 2016 Disease Trichofolliculoma C0334262 16 Feb 2016 Disease Trichohepatoenteric syndrome OMIM phenotypic series C1857276 PS222470 23 Oct 2016 Disease Trichohepatoenteric syndrome 1 NCBI curation C4551982 222470 23 Oct 2016 Disease Trichohepatoenteric syndrome 2 NCBI curation C3281289 614602 16 Feb 2016 Disease Trichohepatoneurodevelopmental syndrome NCBI curation C4748898 618268 04 Jan 2019 Disease Trichomalacia 16 Feb 2016 Disease Trichomegaly NCBI curation C0854699 190330 16 Feb 2016 Disease Trichomegaly cataract hereditary spherocytosis 16 Feb 2016 Disease Trichomegaly-retina pigmentary degeneration-dwarfism syndrome MONDO C1848745 MONDO:0010152 275400 17 Apr 2020 Disease Trichomonal vulvovaginitis MONDO C2945558 MONDO:0030720 04 Jun 2020 Infectious disease Trichomonas balanoposthitis MONDO C0341769 MONDO:0030707 04 Jun 2020 Infectious disease Trichomonas cervicitis MONDO C0742232 MONDO:0030708 04 Jun 2020 Infectious disease Trichomonas cystitis MONDO C0341733 MONDO:0030706 04 Jun 2020 Infectious disease Trichomonas prostatitis MONDO C0153315 MONDO:0030705 04 Jun 2020 Infectious disease Trichomonas tenax infectious disease MONDO CN281888 MONDO:0030906 04 Jun 2020 Infectious disease Trichomonas vaginitis urogenital infection MONDO CN281803 MONDO:0005993 04 Jun 2020 Infectious disease Trichomoniasis MONDO C0040921 MONDO:0002154 04 Jun 2020 Infectious disease Trichoodontoonychial dysplasia C3279457 275450 16 Feb 2016 Disease Trichorhinophalangeal dysplasia type I C0432233 190350 16 Feb 2016 Disease Trichorhinophalangeal Syndrome C0265255 02 Dec 2016 Disease Trichorhinophalangeal syndrome type 1 and 3 MONDO C5231006 MONDO:0019176 17 Apr 2020 Disease Trichorhinophalangeal syndrome, type III MONDO C1860823 MONDO:0008597 190351 22 Apr 2020 Disease Trichorrhexis nodosa Human Phenotype Ontology C0263485 HP:0009886 16 Feb 2016 Finding Trichoscyphodysplasia C1864943 609990 16 Feb 2016 Disease Trichosporonosis MONDO C0343939 MONDO:0000306 04 Jun 2020 Infectious disease Trichostasis spinulosa C0263487 16 Feb 2016 Disease Trichostrongyloidiasis MONDO C0040947 MONDO:0005994 04 Jun 2020 Infectious disease Trichostrongylosis MONDO C0040948 MONDO:0005995 04 Jun 2020 Infectious disease Trichothiodystrophy OMIM phenotypic series C1955934 PS601675 27 Oct 2017 Disease Trichothiodystrophy 1, photosensitive NCBI curation C1866504 601675 24 Aug 2016 Disease Trichothiodystrophy 2, photosensitive NCBI curation C4225344 616390 16 Feb 2016 Disease Trichothiodystrophy 3, photosensitive NCBI curation C4017171 616395 16 Feb 2016 Disease Trichothiodystrophy 5, nonphotosensitive NCBI curation C4225420 300953 16 Feb 2016 Disease Trichothiodystrophy 6, nonphotosensitive NCBI curation C4310785 616943 26 May 2016 Disease TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE OMIM C5231403 618546 618546 21 Aug 2019 Disease Trichothiodystrophy with sun sensitivity NCBI curation C1848412 16 Feb 2016 Disease Trichothiodystrophy, nonphotosensitive 1 NCBI curation C1961117 234050 16 Feb 2016 Disease Trichothiodystrophy, type 1 NCBI curation C1848413 16 Feb 2016 Disease Trichotillomania MONDO C0040953 MONDO:0013189 613229 17 Apr 2020 Disease Trichotillomania Human Phenotype Ontology C0040953 HP:0012167 613229 17 Apr 2020 Disease Trichuriasis C0040954 16 Feb 2016 Infectious disease Tricuspid atresia (disease) MONDO C0243002 MONDO:0011514 605067 17 Apr 2020 Disease Tricuspid regurgitation Human Phenotype Ontology C0040961 HP:0005180 16 Feb 2016 Finding Tricuspid stenosis Human Phenotype Ontology C0040963 HP:0010446 16 Feb 2016 Finding Tricuspid valve agenesis MONDO CN227693 MONDO:0019811 17 Apr 2020 Disease Tricuspid valve disease MONDO MONDO:0000471 17 Apr 2020 Disease tricuspid valve insufficiency 22 Aug 2019 Finding Tricuspid valve prolapse Human Phenotype Ontology C0040962 HP:0001704 16 Feb 2016 Finding trident acetabular roof CN238708 19 Oct 2016 Finding Trident hand Human Phenotype Ontology C0426874 HP:0004060 16 Feb 2016 Finding Trifascicular block Human Phenotype Ontology C0155707 HP:0011715 16 Feb 2016 Finding Trifascicular block on electrocardiogram C2216155 16 Feb 2016 Finding Trigeminal autonomic cephalalgia MONDO C1565172 MONDO:0015530 17 Apr 2020 Disease Trigeminal nerve disease MONDO MONDO:0003543 17 Apr 2020 Disease Trigeminal nerve neoplasm MONDO C1263897 MONDO:0001420 17 Apr 2020 Disease Trigeminal neuralgia Human Phenotype Ontology C0040997 HP:0100661 190400 16 Feb 2016 Disease Trigeminal schwannoma MONDO C0349582 MONDO:0002555 17 Apr 2020 Disease Triglyceride storage disease MONDO MONDO:0000155 17 Apr 2020 Disease Triglyceride storage disease with ichthyosis C0268238 275630 16 Feb 2016 Disease Triglyceride storage disease, type I NCBI curation C1860821 190420 24 Aug 2016 Disease Triglyceride storage disease, type II NCBI curation C1860820 190430 24 Aug 2016 Disease Trigonitis MONDO C1261278 MONDO:0001732 17 Apr 2020 Disease Trigonocephaly Human Phenotype Ontology C0265535 HP:0000243 16 Feb 2016 Finding Trigonocephaly 1 NCBI curation C0432122 190440 04 May 2016 Disease Trigonocephaly 2 NCBI curation C3280974 614485 16 Feb 2016 Disease Trigonocephaly bifid nose acral anomalies 16 Feb 2016 Disease Trigonocephaly-bifid nose-acral anomalies syndrome MONDO C1848743 MONDO:0010154 275595 17 Apr 2020 Disease Trigonocephaly-broad thumbs syndrome MONDO CN204378 MONDO:0018064 17 Apr 2020 Disease Trigonocephaly-short stature-developmental delay syndrome MONDO C1839125 MONDO:0010749 314320 17 Apr 2020 Disease Trigonomacrocephaly tibial defect polydactyly 16 Feb 2016 Disease Trihydroxycholestanoylcoa oxidase isolated deficiency 16 Feb 2016 Disease TRIM8-related epileptic encephalopathy 05 Oct 2018 Finding Trimethylaminuria GeneReviews C0342739 NBK1103 602079 16 Feb 2016 Disease Trimethylaminuria Human Phenotype Ontology C0342739 HP:0003614 602079 16 Feb 2016 Disease Trimethylaminuria, mild NCBI curation C4016101 16 Feb 2016 Disease Trimipramine response NCBI curation CN221259 16 Feb 2016 Pharmacological response trimipramine response - Dosage, Toxicity/ADR PharmGKB CN236546 1183617220 18 May 2016 Pharmacological response TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME OMIM CN263353 618805 618805 08 Mar 2020 Disease Triopia 16 Feb 2016 Disease Triose phosphate-isomerase deficiency 16 Feb 2016 Disease Triosephosphate isomerase deficiency NCBI curation C1860808 615512 16 Feb 2016 Disease Triosephosphate isomerase manchester NCBI curation C4016412 16 Feb 2016 Disease TRIP11-related condition 27 Apr 2018 Finding TRIP12 associated autism with facial dysmorphology 27 Apr 2018 Finding Triphalangeal thumb Human Phenotype Ontology C0241397 HP:0001199 16 Feb 2016 Disease Triphalangeal thumb polysyndactyly syndrome NCBI curation 16 Feb 2016 Disease Triphalangeal thumb with double phalanges NCBI curation C1860807 190500 16 Feb 2016 Disease Triphalangeal thumb with polysyndactyly NCBI curation 16 Feb 2016 Disease Triphalangeal thumb, nonopposable NCBI curation C1860806 190600 16 Feb 2016 Disease Triphalangeal thumb, type I CN259068 14 Jun 2019 Disease Triphalangeal thumbs-brachyectrodactyly syndrome MONDO C1860804 MONDO:0008607 190680 17 Apr 2020 Disease Triple-negative breast cancer NCBI curation C3539878 16 Feb 2016 Finding Triple-Negative Breast Cancer Finding NCBI curation C2348819 31 Aug 2018 Finding triple-negative molecular subtype CN221138 16 Feb 2016 Finding Triplicated alpha-globin genes CN252699 16 Aug 2018 Disease Triplicated/deleted globin genes CN252337 17 Jul 2018 Disease Triploidy NCBI curation C0333693 16 Feb 2016 Disease Triplomyelia Human Phenotype Ontology C4022022 HP:0100564 16 Feb 2016 Finding Trismus Human Phenotype Ontology C0041105 HP:0000211 16 Feb 2016 Finding Trisomy C0041107 16 Feb 2016 Disease Trisomy 10p MONDO C4082793 MONDO:0015761 05 Jun 2020 Disease Trisomy 11 mosaicism CN073988 16 Feb 2016 Disease Trisomy 12p MONDO C0795845 MONDO:0015723 17 Apr 2020 Disease Trisomy 17p MONDO C0795865 MONDO:0016840 17 Apr 2020 Disease Trisomy 18-like syndrome NCBI curation C1832677 601161 16 Feb 2016 Disease Trisomy 18p MONDO C2931811 MONDO:0015740 17 Apr 2020 Disease Trisomy 1q MONDO C4708596 MONDO:0016847 17 Apr 2020 Disease Trisomy 2 & 5 pseudomosaicism CN073990 16 Feb 2016 Disease Trisomy 20p MONDO CN036827 MONDO:0016844 17 Apr 2020 Disease Trisomy 22 NCBI curation C0265490 16 Feb 2016 Disease trisomy 22 syndrome 05 Sep 2019 Finding Trisomy 4p MONDO C2931571 MONDO:0015767 17 Apr 2020 Disease Trisomy 5p MONDO C0812464 MONDO:0015768 17 Apr 2020 Disease Trisomy 6 NCBI curation C0432414 16 Feb 2016 Disease Trisomy 8 C0432412 16 Feb 2016 Disease Trisomy 8p MONDO C0795825 MONDO:0017013 17 Apr 2020 Disease Trisomy 8q MONDO C0795829 MONDO:0015772 17 Apr 2020 Disease Trisomy 9 C0432411 16 Feb 2016 Disease Trisomy X syndrome C0221033 16 Feb 2016 Disease TRIT1 Deficiency CN242004 19 Apr 2017 Disease Tritanomaly Human Phenotype Ontology C1970167 HP:0000552 16 Feb 2016 Finding Tritanopia NCBI curation C0155017 190900 16 Feb 2016 Disease Trochlear dysplasia 16 Feb 2016 Disease Trochlear nerve disease MONDO C4048184 MONDO:0007002 17 Apr 2020 Disease Trochlear nerve neoplasm MONDO C1263896 MONDO:0002642 17 Apr 2020 Disease Trombiculiasis MONDO C0041170 MONDO:0005998 04 Jun 2020 Infectious disease Trophic changes related to pain Human Phenotype Ontology C4021220 HP:0010834 16 Feb 2016 Finding Trophic limb changes Human Phenotype Ontology C4025657 HP:0003091 16 Feb 2016 Finding Trophoblastic tumor Human Phenotype Ontology C0041182 HP:0031502 04 Apr 2018 Finding Tropical calcific pancreatitis NCBI curation C1842402 608189 16 Feb 2016 Disease Tropical endomyocardial fibrosis MONDO C2882252 MONDO:0019158 17 Apr 2020 Disease Tropical sprue C0038054 16 Feb 2016 Disease Tropisetron response NCBI curation CN417143 28 Aug 2017 Pharmacological response Troyer syndrome C0393559 275900 16 Feb 2016 Disease TRPM4-Related Disorders CN239424 02 Dec 2016 Disease TRPV4-Associated Disorders 23 May 2019 Disease TRPV4-related bone disorder MONDO CN227290 MONDO:0018240 17 Apr 2020 Disease True anophthalmia Human Phenotype Ontology C2675590 HP:0011478 16 Feb 2016 Finding True hermaphroditism Human Phenotype Ontology C0266361 HP:0010459 16 Feb 2016 Finding True unicornuate uterus MONDO CN200442 MONDO:0015832 17 Apr 2020 Disease Trueb Burg Bottani syndrome 16 Feb 2016 Disease Truncal ataxia Human Phenotype Ontology C0427190 HP:0002078 16 Feb 2016 Finding Truncal obesity Human Phenotype Ontology C4551560 HP:0001956 16 Feb 2016 Finding Truncal titubation Human Phenotype Ontology C2674512 HP:0030147 16 Feb 2016 Finding Truncus arteriosus Human Phenotype Ontology C0041206 HP:0001660 16 Feb 2016 Finding Truncus arteriosus communis NCBI curation CN225386 16 Feb 2016 Disease Trypanosomiasis MONDO C0041227 MONDO:0000940 04 Jun 2020 Infectious disease Trypanosomiasis, Human East-African 16 Feb 2016 Disease Trypanosomiasis, Human West-African 16 Feb 2016 Disease Trypsin 2 NCBI curation 16 Feb 2016 Disease Trypsinogen deficiency NCBI curation C0268417 614044 16 Feb 2016 Disease Tryptophan 5-monooxygenase deficiency NCBI curation CN120491 16 Feb 2016 Disease Tryptophan malabsorption syndrome C0268478 211000 16 Feb 2016 Disease Tryptophanuria Human Phenotype Ontology C0268472 HP:0003361 16 Feb 2016 Finding Tryptophanuria with dwarfism C0268473 276100 16 Feb 2016 Disease Tsc2 angiomyolipomas, renal, modifier of NCBI curation C2750460 16 Feb 2016 Disease TSC2 Renal Cell and Family History 21 Mar 2018 Finding TSC2-Related Disorder 13 Oct 2017 Disease TSH producing pituitary tumor MONDO C2362538 MONDO:0003837 17 Apr 2020 Disease TSH-secreting pituitary adenoma MONDO C0346303 MONDO:0019611 17 Apr 2020 Disease TSHR-Related Disorders 23 May 2019 Disease TSPEAR-related disorder of tooth and hair follicle morphogenesis 05 Oct 2018 Finding Tsukahara Azuno Kajii syndrome 16 Feb 2016 Disease Tsukahara Kajii syndrome 16 Feb 2016 Disease TTC21B-Related Disorders 23 May 2019 Disease TTN-Related disorder 13 Oct 2017 Disease TTN-Related Disorders CN239417 02 Dec 2016 Disease Tubal pregnancy MONDO C0032994 MONDO:0043762 17 Apr 2020 Disease Tuberculin skin test reactivity quantitative trait locus NCBI curation C3150893 613637 16 Feb 2016 Disease Tuberculin skin test reactivity, absence of NCBI curation C3150892 613636 16 Feb 2016 Disease Tuberculoid leprosy MONDO C0023351 MONDO:0005126 04 Jun 2020 Infectious disease Tuberculoma MONDO C0041295 MONDO:0021943 04 Jun 2020 Infectious disease Tuberculosis C0041296 16 Feb 2016 Infectious disease Tuberculosis of meninges NCBI curation C0041318 16 Feb 2016 Disease Tuberculosis, avian MONDO C0041306 MONDO:0025135 04 Jun 2020 Infectious disease Tuberculosis, spinal MONDO C0041330 MONDO:0043836 04 Jun 2020 Infectious disease Tuberculosis, susceptibility to NCBI curation C0429908 16 Feb 2016 Disease Tuberculous ascites MONDO C0275919 MONDO:0023153 04 Jun 2020 Infectious disease Tuberculous empyema MONDO C0014014 MONDO:0005999 04 Jun 2020 Infectious disease Tuberculous epididymitis MONDO C0152814 MONDO:0001537 04 Jun 2020 Infectious disease Tuberculous fibrosis of lung MONDO C0041336 MONDO:0021953 04 Jun 2020 Infectious disease Tuberculous oophoritis MONDO C0275932 MONDO:0002226 04 Jun 2020 Infectious disease Tuberculous peritonitis MONDO C0041325 MONDO:0006000 04 Jun 2020 Infectious disease Tuberculous pneumothorax MONDO C0152600 MONDO:0004813 17 Apr 2020 Disease Tuberculous salpingitis MONDO C0275933 MONDO:0000271 04 Jun 2020 Infectious disease Tuberculous uveitis 16 Feb 2016 Disease Tuberculum sellae meningioma MONDO C1336829 MONDO:0004339 17 Apr 2020 Disease Tuberous sclerosis 1 NCBI curation C1854465 191100 16 Feb 2016 Disease Tuberous Sclerosis 10 CN229768 16 Feb 2016 Disease Tuberous Sclerosis 11 CN229765 16 Feb 2016 Disease Tuberous Sclerosis 12 CN229766 16 Feb 2016 Disease Tuberous Sclerosis 13 CN229763 16 Feb 2016 Disease Tuberous Sclerosis 14 CN229764 16 Feb 2016 Disease Tuberous Sclerosis 15 CN229761 16 Feb 2016 Disease Tuberous Sclerosis 16 CN229762 16 Feb 2016 Disease Tuberous Sclerosis 17 CN229759 16 Feb 2016 Disease Tuberous Sclerosis 18 CN229760 16 Feb 2016 Disease Tuberous sclerosis 2 NCBI curation C1860707 613254 16 Feb 2016 Disease Tuberous Sclerosis 3 CN229773 16 Feb 2016 Disease Tuberous Sclerosis 4 CN229774 16 Feb 2016 Disease Tuberous Sclerosis 5 CN229769 16 Feb 2016 Disease Tuberous Sclerosis 6 CN229770 16 Feb 2016 Disease Tuberous Sclerosis 7 CN229771 16 Feb 2016 Disease Tuberous Sclerosis 8 CN229772 16 Feb 2016 Disease Tuberous Sclerosis 9 CN229767 16 Feb 2016 Disease Tuberous sclerosis and lymphangiomyomatosis CN221561 16 Feb 2016 Disease Tuberous sclerosis syndrome NCBI curation C0041341 16 Feb 2016 Disease Tuberous xanthoma Human Phenotype Ontology C0302164 HP:0031290 04 Apr 2018 Finding Tubular adenocarcinoma MONDO C0205645 MONDO:0005606 17 Apr 2020 Disease Tubular adenoma MONDO C0334292 MONDO:0024660 17 Apr 2020 Disease Tubular adenomas CN244026 01 Jun 2017 Finding Tubular atrophy Human Phenotype Ontology C1858395 HP:0000092 16 Feb 2016 Finding Tubular basement membrane disintegration Human Phenotype Ontology C1968618 HP:0005583 16 Feb 2016 Finding Tubular duplication of the esophagus MONDO CN197342 MONDO:0015051 17 Apr 2020 Disease Tubular metacarpal bones Human Phenotype Ontology C1859369 HP:0006166 16 Feb 2016 Finding Tubular renal disease-cardiomyopathy syndrome MONDO CN205654 MONDO:0019130 17 Apr 2020 Disease Tubular variant testicular seminoma MONDO C1515294 MONDO:0003973 17 Apr 2020 Disease Tubulin, beta NCBI curation C3887557 301850 16 Feb 2016 Disease Tubulinopathies CN850169 09 Mar 2018 Disease Tubulinopathy 08 Sep 2017 Disease Tubulinopathy-associated dysgyria MONDO CN242152 MONDO:0018763 17 Apr 2020 Disease Tubulocystic renal cell carcinoma MONDO C4288091 MONDO:0017890 17 Apr 2020 Disease Tubulointerstitial abnormality Human Phenotype Ontology C4025732 HP:0001969 16 Feb 2016 Finding Tubulointerstitial fibrosis Human Phenotype Ontology C1969372 HP:0005576 16 Feb 2016 Finding Tubulointerstitial nephritis and uveitis syndrome MONDO C1843273 MONDO:0011885 607665 17 Apr 2020 Disease Tubulovillous adenoma MONDO C0334307 MONDO:0024661 17 Apr 2020 Disease Tufted angioma of skin C0346073 607859 16 Feb 2016 Disease Tufted hairs Human Phenotype Ontology C4531227 HP:0031283 04 Apr 2018 Finding Tuftelin deficiency CN235214 19 Feb 2016 Disease Tufting enteropathy 16 Feb 2016 Disease Tuftsin deficiency C0398741 191150 16 Feb 2016 Disease Tukel syndrome C1836217 609428 16 Feb 2016 Disease Tularemia C0041351 16 Feb 2016 Infectious disease TULP1-Related Disorders 23 May 2019 Disease Tumor grade 1 or 2, general grading system MONDO MONDO:0024495 17 Apr 2020 Disease Tumor grade 1, general grading system MONDO C0475269 MONDO:0024491 17 Apr 2020 Disease Tumor grade 2 or 3, general grading system MONDO MONDO:0024496 17 Apr 2020 Disease Tumor grade 2, general grading system MONDO MONDO:0024492 17 Apr 2020 Disease Tumor grade 3 or 4, general grading system MONDO MONDO:0024497 17 Apr 2020 Disease Tumor grade 3, general grading system MONDO C0475271 MONDO:0024493 17 Apr 2020 Disease Tumor grade 4, general grading system MONDO MONDO:0024494 17 Apr 2020 Disease Tumor grade X, general grading system MONDO MONDO:0024490 17 Apr 2020 Disease Tumor grading characteristic MONDO MONDO:0024488 17 Apr 2020 Disease Tumor lysis syndrome MONDO C0041364 MONDO:0043875 17 Apr 2020 Disease Tumor necrosis factor alpha (TNF-alpha) inhibitors response - Efficacy PharmGKB CN236447 655384799 18 May 2016 Pharmacological response Tumor of cranial and spinal nerves MONDO CN201996 MONDO:0016749 17 Apr 2020 Disease Tumor of duodenum MONDO MONDO:0021375 17 Apr 2020 Disease Tumor of hematopoietic and lymphoid tissues MONDO CN205528 MONDO:0019044 17 Apr 2020 Disease Tumor of parathyroid gland MONDO MONDO:0021360 17 Apr 2020 Disease Tumor of testis and paratestis MONDO CN204698 MONDO:0018191 17 Apr 2020 Disease Tumor of uterus MONDO MONDO:0021353 17 Apr 2020 Disease tumor resection 21 Jun 2019 Finding Tumor suppressor gene on chromosome 11 NCBI curation C1864232 603040 16 Feb 2016 Disease Tumor susceptibility linked to germline BAP1 mutations Orphanet C3280492 ORPHA289539 614327 09 Aug 2016 Disease Tumor-induced osteomalacia C1274103 16 Feb 2016 Disease Tumoral calcinosis, familial, normophosphatemic NCBI curation C1864861 610455 16 Feb 2016 Disease Tumoral calcinosis, hyperphosphatemic, familial NCBI curation C1876187 27 Dec 2019 Disease TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2 OMIM C4693863 617993 617993 25 May 2018 Disease Tune deafness NCBI curation C1860646 191200 16 Feb 2016 Disease Tungiasis CN281849 16 Feb 2016 Infectious disease Tunglang Savage Bellman syndrome 16 Feb 2016 Disease Tunnel subaortic stenosis MONDO CN207275 MONDO:0020394 17 Apr 2020 Disease Turcot syndrome C0265325 276300 16 Feb 2016 Disease Turcot syndrome with polyposis MONDO CN207386 MONDO:0020497 17 Apr 2020 Disease Turner syndrome C0041408 16 Feb 2016 Disease Turner syndrome due to structural X chromosome anomalies MONDO CN207336 MONDO:0020472 17 Apr 2020 Disease Turner syndrome-associated neurocognitive phenotype NCBI curation 16 Feb 2016 Disease Turner's syndrome 05 Sep 2019 Disease TURNPENNY-FRY SYNDROME OMIM C5193060 618371 618371 30 Mar 2019 Disease Turricephaly Human Phenotype Ontology C0030044 HP:0000262 16 Feb 2016 Finding Twelfth rib hypoplasia Human Phenotype Ontology C1859361 HP:0006668 16 Feb 2016 Finding Twin pregnancy C0152150 18 Jan 2019 Finding Twin reversal arterial perfusion syndrome MONDO C1562817 MONDO:0041755 17 Apr 2020 Disease twin to twin transfusion syndrome 18 Jan 2019 Finding Twin twin transfusion syndrome 16 Feb 2016 Disease Twin-to-twin transfusion Human Phenotype Ontology C2909036 HP:0031110 04 Apr 2018 Finding Twinning due to superfetation NCBI curation C1860645 191250 16 Feb 2016 Disease Twinning, monozygotic NCBI curation C1321860 276410 16 Feb 2016 Disease TWIST1-related disorder 21 Dec 2019 Disease Two brothers passed away due to muscular dystrophy. 26 Jun 2018 Finding Two carpal ossification centers present at birth Human Phenotype Ontology C1839285 HP:0006176 16 Feb 2016 Finding Two-raphe bicuspid aortic valve Human Phenotype Ontology C4476982 HP:0031122 04 Apr 2018 Finding Two-vessel umbilical cord 24 Nov 2017 Finding Tympanic membrane disease MONDO C0041825 MONDO:0003648 17 Apr 2020 Disease Tympanitis MONDO C0027134 MONDO:0024616 17 Apr 2020 Disease Tympanosclerosis MONDO C0395887 MONDO:0001443 17 Apr 2020 Disease Type 1 and type 2 muscle fiber minicore regions Human Phenotype Ontology C4025568 HP:0003787 16 Feb 2016 Finding Type 1 collagen overmodification Human Phenotype Ontology C1970463 HP:0003784 16 Feb 2016 Finding Type 1 diabetes CN234392 16 Feb 2016 Finding Type 1 diabetes nephropathy MONDO MONDO:0005442 17 Apr 2020 Disease Type 1 fibers relatively smaller than type 2 fibers Human Phenotype Ontology C4025571 HP:0003755 16 Feb 2016 Finding Type 1 interferonopathy MONDO CN776911 MONDO:0018782 17 Apr 2020 Disease Type 1 muscle fiber atrophy Human Phenotype Ontology C4023180 HP:0011807 16 Feb 2016 Finding Type 1 muscle fiber predominance Human Phenotype Ontology C1854387 HP:0003803 16 Feb 2016 Finding Type 1 papillary adenoma of the kidney MONDO C1519706 MONDO:0003830 17 Apr 2020 Disease Type 11 collagen-related bone disorder MONDO CN227673 MONDO:0019687 17 Apr 2020 Disease Type 2 collagen-related bone disorder MONDO CN227672 MONDO:0019686 17 Apr 2020 Disease Type 2 diabetes nephropathy MONDO MONDO:0005443 17 Apr 2020 Disease Type 2 muscle fiber atrophy Human Phenotype Ontology C1864580 HP:0003554 16 Feb 2016 Finding Type 2 muscle fiber predominance Human Phenotype Ontology C3277187 HP:0010602 16 Feb 2016 Finding Type 2 papillary adenoma of the kidney MONDO C1519710 MONDO:0003831 17 Apr 2020 Disease Type A brachydactyly Human Phenotype Ontology C4024413 HP:0009370 16 Feb 2016 Finding Type A1 brachydactyly Human Phenotype Ontology C1862151 HP:0009371 112500 19 Mar 2018 Disease Type A4 brachydactyly Human Phenotype Ontology C1862139 HP:0031043 112800 25 Jul 2018 Disease Type A5 brachydactyly Human Phenotype Ontology C4303992 HP:0031044 04 Apr 2018 Finding Type E brachydactyly Human Phenotype Ontology C3275762 HP:0005863 16 Feb 2016 Finding Type i complement component 8 deficiency MONDO C3151081 MONDO:0013422 613790 22 Apr 2020 Disease Type I cryptotia Human Phenotype Ontology C4023442 HP:0011253 16 Feb 2016 Finding Type I transferrin isoform profile Human Phenotype Ontology C1837899 HP:0003642 16 Feb 2016 Finding Type I truncus arteriosus Human Phenotype Ontology C1834934 HP:0004384 16 Feb 2016 Finding Type II Collagenopathies CN043672 16 Feb 2016 Disease Type II complement component 8 deficiency MONDO C3151080 MONDO:0013421 613789 22 Apr 2020 Disease Type II cryptotia Human Phenotype Ontology C4023441 HP:0011254 16 Feb 2016 Finding Type II hypersensitivity reaction disease MONDO MONDO:0025512 17 Apr 2020 Disease Type II lissencephaly Human Phenotype Ontology C0431376 HP:0007260 11 May 2017 Disease Type II mixed cryoglobulinemia MONDO CN206633 MONDO:0019726 17 Apr 2020 Disease Type II transferrin isoform profile Human Phenotype Ontology C4021094 HP:0012301 16 Feb 2016 Finding Type II truncus arteriosus Human Phenotype Ontology C4021137 HP:0011608 16 Feb 2016 Finding Type III hypersensitivity disease MONDO C0020951 MONDO:0007004 17 Apr 2020 Disease Type III lissencephaly Human Phenotype Ontology C4021030 HP:0045028 16 Feb 2016 Finding Type III truncus arteriosus Human Phenotype Ontology C4021136 HP:0011609 16 Feb 2016 Finding Type IV hypersensitivity disease MONDO C0020522 MONDO:0002459 17 Apr 2020 Disease Type IV short rib polydactyly syndrome NCBI curation C0432198 269860 16 Feb 2016 Disease Type IV truncus arteriosus Human Phenotype Ontology C4021135 HP:0011610 16 Feb 2016 Finding Typhoid fever C0041466 16 Feb 2016 Infectious disease Typhoidal tularemia MONDO C0473876 MONDO:0000321 04 Jun 2020 Infectious disease Typhus CN281679 16 Feb 2016 Infectious disease Typical absence seizures Human Phenotype Ontology C0014553 HP:0011147 16 Feb 2016 Finding Typical hemolytic-uremic syndrome MONDO C1856143 MONDO:0019536 10 Jun 2020 Disease Typical Joubert syndrome MRI findings CN228298 16 Feb 2016 Finding Typical lesions observed of Leigh Syndrome in brain-MRI CN235374 02 Mar 2016 Finding Typical lesions of Leigh Syndrome in brain-MRI CN235375 02 Mar 2016 Finding Typical nemaline myopathy MONDO CN200271 MONDO:0015737 17 Apr 2020 Disease Typical urticaria pigmentosa MONDO MONDO:0015554 17 Apr 2020 Disease Tyrosinase-negative oculocutaneous albinism NCBI curation C4551504 203100 16 Feb 2016 Disease Tyrosinase-positive oculocutaneous albinism C0268495 203200 16 Feb 2016 Disease Tyrosine hydroxylase deficiency NCBI curation CN263399 29 Mar 2020 Disease Tyrosine kinase 2 deficiency NCBI curation C1969086 611521 16 Feb 2016 Disease Tyrosine kinase inhibitor response CN225347 16 Feb 2016 Pharmacological response Tyrosine-oxidase temporary deficiency 16 Feb 2016 Disease Tyrosinemia OMIM phenotypic series C0268483 PS276700 25 Dec 2019 Disease Tyrosinemia type 3 NCBI curation C0268623 276710 25 Dec 2019 Disease Tyrosinemia type I NCBI curation C0268490 276700 16 Feb 2016 Disease Tyrosinemia type II MONDO C0268487 MONDO:0010160 276600 22 Apr 2020 Disease Tyrosinosis C0268484 276800 16 Feb 2016 Disease Tyshchenko syndrome NCBI curation C3554774 615102 16 Feb 2016 Disease U wave inversion Human Phenotype Ontology C4476578 HP:0025071 02 Apr 2017 Finding U-Shaped upper lip vermilion Human Phenotype Ontology C1856202 HP:0010806 16 Feb 2016 Finding Ubiquitin-activating enzyme, Y-linked NCBI curation C1839046 489000 16 Feb 2016 Disease Ubiquitin-positive cerebral inclusion bodies Human Phenotype Ontology C4023052 HP:0012083 16 Feb 2016 Finding Ubiquitous Glucose-6-Phosphatase Deficiency CN257761 02 Nov 2018 Disease UBTF E210K Neuroregression Syndrome 05 Sep 2017 Disease UBTF-Related Disorder 29 Aug 2019 Disease UCP1 POLYMORPHISM 16 Feb 2016 Disease UCP3 POLYMORPHISM G/A 16 Feb 2016 Disease UCP3 POLYMORPHISM, EXON 6 SPLICE DONOR JUNCTION 16 Feb 2016 Disease UDPglucose-4-epimerase deficiency NCBI curation C0751161 230350 16 Feb 2016 Disease UGT1A1-Related Disorders 23 May 2019 Disease Uhl anomaly MONDO C0265857 MONDO:0018084 10 Jun 2020 Finding Ulbright-Hodes syndrome MONDO C1849438 MONDO:0009963 266910 22 Apr 2020 Disease Ulcer disease MONDO C0041582 MONDO:0043839 17 Apr 2020 Disease Ulcer of anus and rectum MONDO MONDO:0001772 17 Apr 2020 Disease Ulcer of lower limbs MONDO MONDO:0004601 17 Apr 2020 Disease Ulceration of vulva MONDO C0156339 MONDO:0001551 17 Apr 2020 Disease Ulcerative blepharitis MONDO C0155173 MONDO:0004799 17 Apr 2020 Disease Ulcerative colitis Human Phenotype Ontology C0009324 HP:0100279 16 Feb 2016 Disease Ulcerative proctosigmoiditis MONDO MONDO:0007005 17 Apr 2020 Disease Ulcerative stomatitis MONDO C0038367 MONDO:0004848 17 Apr 2020 Disease Ulceroglandular tularemia MONDO C0152941 MONDO:0001413 04 Jun 2020 Infectious disease Ulerythema ophryogenesis MONDO C0263428 MONDO:0018086 29 Apr 2020 Finding Ullrich congenital muscular dystrophy OMIM phenotypic series C0410179 PS254090 23 Oct 2016 Disease Ullrich congenital muscular dystrophy 1 NCBI curation CN033863 254090 23 Oct 2016 Disease Ullrich congenital muscular dystrophy 1, autosomal dominant NCBI curation CN235581 19 Mar 2016 Disease Ullrich congenital muscular dystrophy 2 NCBI curation C4225314 616470 16 Feb 2016 Disease Ulna fracture MONDO MONDO:0005322 17 Apr 2020 Disease Ulna hypoplasia with mental retardation 16 Feb 2016 Disease Ulna metaphyseal dysplasia syndrome C1860615 191420 16 Feb 2016 Disease Ulnar agenesis and endocardial fibroelastosis NCBI curation C1848649 276822 16 Feb 2016 Disease Ulnar bowing Human Phenotype Ontology C1865847 HP:0003031 16 Feb 2016 Finding Ulnar claw Human Phenotype Ontology C4025799 HP:0001178 16 Feb 2016 Finding Ulnar deviated club hands Human Phenotype Ontology C1833881 HP:0006055 16 Feb 2016 Finding Ulnar deviation of finger Human Phenotype Ontology C0231679 HP:0009465 16 Feb 2016 Finding Ulnar deviation of the 2nd finger Human Phenotype Ontology C1844891 HP:0009464 16 Feb 2016 Finding Ulnar deviation of the 3rd finger Human Phenotype Ontology C3554614 HP:0009463 16 Feb 2016 Finding Ulnar deviation of the 4th finger Human Phenotype Ontology C4024474 HP:0009278 16 Feb 2016 Finding Ulnar deviation of the 5th finger Human Phenotype Ontology C4024553 HP:0009180 16 Feb 2016 Finding Ulnar deviation of the hand Human Phenotype Ontology C0241521 HP:0009487 16 Feb 2016 Finding Ulnar deviation of the hand or of fingers of the hand Human Phenotype Ontology C4048199 HP:0001193 16 Feb 2016 Finding Ulnar deviation of the wrist Human Phenotype Ontology C0231678 HP:0003049 16 Feb 2016 Finding Ulnar deviation of thumb Human Phenotype Ontology C0575904 HP:0006156 16 Feb 2016 Finding Ulnar hemimelia MONDO CN206566 MONDO:0019670 17 Apr 2020 Disease Ulnar hemimelia, bilateral MONDO MONDO:0017488 17 Apr 2020 Disease Ulnar hemimelia, unilateral MONDO MONDO:0017489 17 Apr 2020 Disease Ulnar hypoplasia with mental retardation NCBI curation C1848650 276821 16 Feb 2016 Disease Ulnar hypoplasia-split foot syndrome MONDO C1839123 MONDO:0010750 314360 17 Apr 2020 Disease Ulnar metaphyseal irregularity Human Phenotype Ontology C4021688 HP:0004042 16 Feb 2016 Finding Ulnar nerve lesion MONDO C1288279 MONDO:0001458 17 Apr 2020 Disease Ulnar neuropathy MONDO C0154743 MONDO:0007006 17 Apr 2020 Disease Ulnar radial head dislocation Human Phenotype Ontology C4021619 HP:0005856 16 Feb 2016 Finding Ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia NCBI curation C1858422 604380 16 Feb 2016 Disease Ulnar-mammary syndrome C1866994 181450 16 Feb 2016 Disease Ulnar/fibular ray defect and brachydactyly NCBI curation C1837830 608571 16 Feb 2016 Disease Ultrasound anomalies 31 Jul 2018 Finding umbilical and scrotal hernias 13 Oct 2017 Finding Umbilical cord cyst Human Phenotype Ontology C4073114 HP:0030654 02 Apr 2017 Finding Umbilical cord hematoma Human Phenotype Ontology C0269855 HP:0030657 02 Apr 2017 Finding Umbilical cord knot Human Phenotype Ontology C0344363 HP:0030655 02 Apr 2017 Finding Umbilical cord ulceration and intestinal atresia 16 Feb 2016 Disease Umbilical cord ulceration-intestinal atresia syndrome MONDO C2931371 MONDO:0018085 17 Apr 2020 Disease Umbilical hernia Human Phenotype Ontology C0019322 HP:0001537 16 Feb 2016 Finding Umbilical vein varix Human Phenotype Ontology C4073115 HP:0030656 02 Apr 2017 Finding Umbilicated nodule Human Phenotype Ontology C4476593 HP:0025103 02 Apr 2017 Finding Umbilicus, familial flat MONDO C1836682 MONDO:0012207 609164 22 Apr 2020 Disease UMOD-Associated Kidney Disease CN118844 16 Feb 2016 Disease Unaffected 20 Feb 2020 Finding Unaffected sibling 26 Dec 2019 Finding Unaided visual acuity 0.1 LogMAR Human Phenotype Ontology C4073010 HP:0030536 16 Feb 2016 Finding Unaided visual acuity 0.2 LogMAR Human Phenotype Ontology C4073011 HP:0030537 16 Feb 2016 Finding Unaided visual acuity 0.3 LogMAR Human Phenotype Ontology C4073012 HP:0030538 16 Feb 2016 Finding Unaided visual acuity 0.4 LogMAR Human Phenotype Ontology C4073013 HP:0030539 16 Feb 2016 Finding Unaided visual acuity 0.5 LogMAR Human Phenotype Ontology C4073014 HP:0030540 16 Feb 2016 Finding Unaided visual acuity 0.6 LogMAR Human Phenotype Ontology C4073015 HP:0030541 16 Feb 2016 Finding Unaided visual acuity 0.7 LogMAR Human Phenotype Ontology C4073016 HP:0030542 16 Feb 2016 Finding Unaided visual acuity 0.8 LogMAR Human Phenotype Ontology C4073017 HP:0030543 16 Feb 2016 Finding Unaided visual acuity 0.9 LogMAR Human Phenotype Ontology C4073018 HP:0030544 16 Feb 2016 Finding Unaided visual acuity 1.0 LogMAR Human Phenotype Ontology C4073019 HP:0030545 16 Feb 2016 Finding Unaided visual acuity 1.1 LogMAR Human Phenotype Ontology C4073020 HP:0030546 16 Feb 2016 Finding Unaided visual acuity 1.2 LogMAR Human Phenotype Ontology C4073021 HP:0030547 16 Feb 2016 Finding Unaided visual acuity 1.3 LogMAR Human Phenotype Ontology C4073022 HP:0030548 16 Feb 2016 Finding Unaided visual acuity 2.0 LogMAR Human Phenotype Ontology C4073023 HP:0030549 16 Feb 2016 Finding Unaided visual acuity 3.0 LogMAR Human Phenotype Ontology C4073024 HP:0030550 16 Feb 2016 Finding Unbalanced atrioventricular canal defect Human Phenotype Ontology C3280940 HP:0011579 16 Feb 2016 Finding UNC80-Related Disorder 13 Oct 2017 Disease Unclassifed CN163192 16 Feb 2016 Disease Unclassified acute myeloid leukemia MONDO CN200094 MONDO:0015667 17 Apr 2020 Disease Unclassified autoinflammatory syndrome MONDO CN204103 MONDO:0017957 17 Apr 2020 Disease Unclassified cardiomyopathy MONDO C4682345 MONDO:0016343 17 Apr 2020 Disease Unclassified familial retinal dystrophy MONDO MONDO:0020241 17 Apr 2020 Disease Unclassified genetic skin disorder MONDO CN205933 MONDO:0019299 17 Apr 2020 Disease Unclassified intestinal pseudoobstruction MONDO CN197532 MONDO:0015192 17 Apr 2020 Disease Unclassified myelodysplastic syndrome MONDO CN207136 MONDO:0020315 17 Apr 2020 Disease Unclassified myelodysplastic/myeloproliferative disease MONDO CN207134 MONDO:0020313 17 Apr 2020 Disease Unclassified primitive or secondary maculopathy MONDO MONDO:0020244 17 Apr 2020 Disease Unclassified renal cell carcinoma MONDO C1336853 MONDO:0006475 17 Apr 2020 Disease Unclassified vasculitis MONDO CN229058 MONDO:0016665 17 Apr 2020 Disease Uncombable hair Human Phenotype Ontology C1860607 HP:0030056 16 Feb 2016 Finding Uncombable hair syndrome C4551573 191480 16 Feb 2016 Disease Uncombable hair syndrome 2 NCBI curation C4310649 617251 20 Jun 2017 Disease Uncombable hair syndrome 3 NCBI curation C4310648 617252 20 Jun 2017 Disease Unconjugated hyperbilirubinemia Human Phenotype Ontology C0268306 HP:0008282 16 Feb 2016 Finding Uncontrolled eye movements Human Phenotype Ontology C1854686 HP:0007738 16 Feb 2016 Finding uncoordinated swallow 13 Feb 2020 Finding Underdeveloped antitragus Human Phenotype Ontology C4021186 HP:0011251 16 Feb 2016 Finding Underdeveloped crus of the helix Human Phenotype Ontology C4021378 HP:0009898 16 Feb 2016 Finding Underdeveloped inferior crus of antihelix Human Phenotype Ontology C4021194 HP:0011239 16 Feb 2016 Finding Underdeveloped nasal alae Human Phenotype Ontology C1834055 HP:0000430 16 Feb 2016 Finding Underdeveloped nasolabial fold Human Phenotype Ontology C4021227 HP:0010801 16 Feb 2016 Finding Underdeveloped stem of antihelix Human Phenotype Ontology C4021192 HP:0011242 16 Feb 2016 Finding Underdeveloped superior crus of antihelix Human Phenotype Ontology C4021189 HP:0011246 16 Feb 2016 Finding Underdeveloped supraorbital ridges Human Phenotype Ontology C1861869 HP:0009891 16 Feb 2016 Finding Underdeveloped tragus Human Phenotype Ontology C4013429 HP:0011272 16 Feb 2016 Finding Underfolded helix Human Phenotype Ontology C1849735 HP:0008577 16 Feb 2016 Finding Underfolded superior helices Human Phenotype Ontology C4024655 HP:0008583 16 Feb 2016 Finding Undermodeled humerus Human Phenotype Ontology C4025529 HP:0003885 16 Feb 2016 Finding Undermodelled forearm bones Human Phenotype Ontology C4025470 HP:0003970 16 Feb 2016 Finding Undermodelled hand bones Human Phenotype Ontology C4025364 HP:0004292 16 Feb 2016 Finding underweight 05 Sep 2019 Finding Undescended right testes CN244047 01 Jun 2017 Finding undescended testicle 05 Sep 2019 Finding Undetectable dark-adapted electroretinogram Human Phenotype Ontology C4072964 HP:0030474 16 Feb 2016 Finding Undetectable electroretinogram Human Phenotype Ontology C1855685 HP:0000550 16 Feb 2016 Finding Undetectable light- and dark-adapted electroretinogram Human Phenotype Ontology C4021570 HP:0007688 16 Feb 2016 Finding Undetectable light-adapted electroretinogram Human Phenotype Ontology C4072955 HP:0030465 16 Feb 2016 Finding Undetectable pattern electroretinogram Human Phenotype Ontology C4280746 HP:0030844 02 Apr 2017 Finding Undetectable visual evoked potentials Human Phenotype Ontology C1850069 HP:0007965 16 Feb 2016 Finding Undetermined colitis MONDO CN228920 MONDO:0015176 17 Apr 2020 Disease Undetermined early-onset epileptic encephalopathy NCBI curation CN244407 09 Mar 2018 Finding Undiagnosed pathologic process NCBI curation C1408353 16 Feb 2016 Finding Undifferentiated (embryonal) sarcoma MONDO C0855073 MONDO:0005102 17 Apr 2020 Disease Undifferentiated carcinoma MONDO C0205698 MONDO:0005617 17 Apr 2020 Disease Undifferentiated carcinoma of esophagus MONDO C2188058 MONDO:0018481 17 Apr 2020 Disease Undifferentiated carcinoma of liver and intrahepatic biliary tract MONDO C4749401 MONDO:0018533 17 Apr 2020 Disease Undifferentiated carcinoma of nasopharynx MONDO C0279748 MONDO:0021537 17 Apr 2020 Disease Undifferentiated carcinoma of stomach MONDO C1336858 MONDO:0018504 17 Apr 2020 Disease Undifferentiated connective tissue syndrome MONDO C0409999 MONDO:0019527 17 Apr 2020 Disease Undifferentiated embryonal sarcoma of the liver MONDO CN200382 MONDO:0015795 17 Apr 2020 Disease Undifferentiated gallbladder carcinoma MONDO C0279653 MONDO:0006476 17 Apr 2020 Disease Undifferentiated high grade pleomorphic sarcoma of bone MONDO C0740479 MONDO:0002618 17 Apr 2020 Disease Undifferentiated ovarian carcinoma MONDO C0346167 MONDO:0006477 17 Apr 2020 Disease Undifferentiated pancreatic carcinoma MONDO C1336861 MONDO:0006478 17 Apr 2020 Disease Undifferentiated pancreatic carcinoma with osteoclast-like giant cells MONDO C2007059 MONDO:0006479 17 Apr 2020 Disease Undifferentiated Pleomorphic Sarcoma C0334463 15 Mar 2019 Disease Undifferentiated pleomorphic sarcoma, inflammatory variant MONDO C1334180 MONDO:0006480 17 Apr 2020 Disease Undifferentiated round cell sarcoma MONDO C4048304 MONDO:0020661 17 Apr 2020 Disease Undritz anomaly NCBI curation C1860604 191500 16 Feb 2016 Disease Undulate clavicles Human Phenotype Ontology C4021253 HP:0010560 16 Feb 2016 Finding Undulate ribs Human Phenotype Ontology C1969185 HP:0010561 16 Feb 2016 Finding unequal limb length 05 Sep 2019 Finding Unerupted tooth Human Phenotype Ontology C0040458 HP:0000706 16 Feb 2016 Finding Unexplained fevers Human Phenotype Ontology C1844662 HP:0001955 16 Feb 2016 Finding Unexplained long-lasting fever/inflammatory syndrome MONDO CN201905 MONDO:0016666 17 Apr 2020 Disease Unexplained periodic fever syndrome MONDO CN197498 MONDO:0015158 17 Apr 2020 Disease Unfavorable response of muscle weakness to acetylcholine esterase inhibitors Human Phenotype Ontology C4022580 HP:0030203 16 Feb 2016 Finding Ungual fibroma Human Phenotype Ontology C0442880 HP:0100804 16 Feb 2016 Finding Unguarded tricuspid valve Human Phenotype Ontology C0344745 HP:0030719 02 Apr 2017 Finding ungueal dystrophy CN219573 16 Feb 2016 Finding Unhappy demeanor Human Phenotype Ontology C4703428 HP:0031588 04 Apr 2018 Finding Uni- and bilateral multifocal epileptiform discharges Human Phenotype Ontology C4023484 HP:0011190 16 Feb 2016 Finding Unicameral bone cyst Human Phenotype Ontology C4082185 HP:0012064 16 Feb 2016 Finding Unicervical bicornuate uterus MONDO CN261590 MONDO:0015837 17 Apr 2020 Disease Unicoronal synostosis Human Phenotype Ontology C4023418 HP:0011315 16 Feb 2016 Finding Unicuspid aortic valve Human Phenotype Ontology C0345001 HP:0012561 16 Feb 2016 Finding Unifocal splenic abscess Human Phenotype Ontology C4476576 HP:0025061 02 Apr 2017 Finding Unilambdoid synostosis Human Phenotype Ontology C4021162 HP:0011320 16 Feb 2016 Finding Unilateral absence of pectoralis major muscle Human Phenotype Ontology C4021639 HP:0005256 16 Feb 2016 Finding Unilateral alveolar cleft of maxilla Human Phenotype Ontology C4477070 HP:0410033 04 Apr 2018 Finding Unilateral aplasia of the mullerian ducts MONDO C0266389 MONDO:0015831 17 Apr 2020 Disease Unilateral brachydactyly Human Phenotype Ontology C1868164 HP:0006008 16 Feb 2016 Finding Unilateral breast hypoplasia Human Phenotype Ontology C1844722 HP:0012813 16 Feb 2016 Finding Unilateral chest hypoplasia Human Phenotype Ontology C1845576 HP:0005254 16 Feb 2016 Finding Unilateral cleft lip Human Phenotype Ontology C0392006 HP:0100333 16 Feb 2016 Finding Unilateral cleft palate Human Phenotype Ontology C4022143 HP:0100334 16 Feb 2016 Finding Unilateral conductive hearing impairment Human Phenotype Ontology C4022428 HP:0040119 16 Feb 2016 Finding unilateral conductive hearing loss C1955772 18 Jan 2019 Finding unilateral congenital agenesis of kidney 05 Sep 2019 Finding Unilateral congenital megacalycosis MONDO CN227670 MONDO:0019646 17 Apr 2020 Disease Unilateral cryptorchidism Human Phenotype Ontology C0431664 HP:0012741 16 Feb 2016 Finding Unilateral deafness Human Phenotype Ontology C2607947 HP:0009900 125000 16 Feb 2016 Disease Unilateral external ear deformity Human Phenotype Ontology C1834043 HP:0008605 16 Feb 2016 Finding Unilateral facial palsy Human Phenotype Ontology C4022719 HP:0012799 16 Feb 2016 Finding Unilateral focal polymicrogyria MONDO CN202451 MONDO:0017093 17 Apr 2020 Disease Unilateral hearing loss 22 Jun 2020 Finding Unilateral hemispheric polymicrogyria MONDO CN197429 MONDO:0015099 17 Apr 2020 Disease Unilateral hydronephrosis CN238747 19 Oct 2016 Finding Unilateral hyperactive labyrinth MONDO C0155515 MONDO:0002107 17 Apr 2020 Disease Unilateral hypoactive labyrinth MONDO C0155517 MONDO:0004801 17 Apr 2020 Disease Unilateral hypoplasia of pectoralis major muscle Human Phenotype Ontology C4023107 HP:0011959 16 Feb 2016 Finding Unilateral Hypotonia 27 Dec 2019 Disease unilateral inguinal hernia 05 Sep 2019 Finding Unilateral limb reduction defect 14 May 2020 Finding Unilateral lung agenesis Human Phenotype Ontology C4082952 HP:0030707 02 Apr 2017 Finding Unilateral lymphedema 22 Jun 2020 Finding Unilateral microphthalmos Human Phenotype Ontology C3640024 HP:0011480 16 Feb 2016 Finding Unilateral multicystic dysplastic kidney MONDO C1567426 MONDO:0019981 17 Apr 2020 Disease Unilateral multifocal epileptiform discharges Human Phenotype Ontology C4023483 HP:0011191 16 Feb 2016 Finding Unilateral narrow palpebral fissure Human Phenotype Ontology C1866805 HP:0007946 16 Feb 2016 Finding Unilateral oligodactyly Human Phenotype Ontology C3805861 HP:0006230 16 Feb 2016 Finding Unilateral pelvic kidney 03 Mar 2020 Finding Unilateral polymicrogyria Human Phenotype Ontology C4024960 HP:0006927 16 Feb 2016 Finding Unilateral primary pulmonary dysgenesis Human Phenotype Ontology C4021592 HP:0006549 16 Feb 2016 Finding Unilateral ptosis Human Phenotype Ontology C1866806 HP:0007687 16 Feb 2016 Finding Unilateral radial aplasia Human Phenotype Ontology C4023135 HP:0011908 16 Feb 2016 Finding Unilateral renal agenesis Human Phenotype Ontology C0266294 HP:0000122 16 Feb 2016 Finding Unilateral renal atrophy Human Phenotype Ontology C1827184 HP:0008717 16 Feb 2016 Finding Unilateral renal dysplasia Human Phenotype Ontology C0431697 HP:0008718 16 Feb 2016 Finding Unilateral renal enlargement 24 Nov 2017 Finding Unilateral renal hypoplasia Human Phenotype Ontology C0431691 HP:0012583 16 Feb 2016 Finding Unilateral retinoblastoma MONDO C0854915 MONDO:0003076 17 Apr 2020 Disease Unilateral strabismus Human Phenotype Ontology C4023678 HP:0010877 16 Feb 2016 Finding Unilateral strabismus dysarthria CN235376 02 Mar 2016 Finding Unilateral ulnar hypoplasia Human Phenotype Ontology C1837832 HP:0005036 16 Feb 2016 Finding unilateral undescended testis 24 Nov 2017 Finding Unilateral ventriculomegaly 22 Jun 2020 Finding Unilateral vertebral artery hypoplasia Human Phenotype Ontology C3279090 HP:0030323 16 Feb 2016 Finding Unilateral vestibular Schwannoma Human Phenotype Ontology C1863653 HP:0009590 16 Feb 2016 Finding Unilateral vocal cord paralysis Human Phenotype Ontology C0751575 HP:0008757 16 Feb 2016 Finding Unilateral vocal cord paresis Human Phenotype Ontology C0751577 HP:0012821 16 Feb 2016 Finding Unilateral wrist flexion contracture Human Phenotype Ontology C4022898 HP:0012454 16 Feb 2016 Finding Uninodular goiter Human Phenotype Ontology C0342205 HP:0011773 16 Feb 2016 Finding Uniparental disomy of 11 CN036234 16 Feb 2016 Disease Uniparental disomy of 7 NCBI curation C2931632 16 Feb 2016 Disease Uniparental disomy of chromosome 2 16 Feb 2016 Disease Uniparental disomy of chromosome 6 NCBI curation CN170858 31 Dec 2019 Disease Uniparental disomy of chromosome X MONDO CN229068 MONDO:0017011 17 Apr 2020 Disease Uniparental disomy of maternal origin MONDO C4518512 MONDO:0020056 17 Apr 2020 Disease Uniparental disomy of paternal origin MONDO C4518513 MONDO:0020057 17 Apr 2020 Disease Unipolar depression, susceptibility to NCBI curation 16 Feb 2016 Disease Unique green phenomenon NCBI curation C1839116 314380 16 Feb 2016 Disease Univentricular cardiopathy MONDO CN229227 MONDO:0019820 17 Apr 2020 Disease Univentricular heart with absent left sided atrioventricular connection Human Phenotype Ontology C4023305 HP:0011549 16 Feb 2016 Finding Univentricular heart with single atrio-ventricular valve MONDO CN230287 MONDO:0020409 17 Apr 2020 Disease Universal acquired melanosis C0406419 16 Feb 2016 Disease Unknown leukodystrophy MONDO MONDO:0019397 17 Apr 2020 Disease Unossified sacrum Human Phenotype Ontology C2675562 HP:0030290 16 Feb 2016 Finding Unossified vertebral bodies Human Phenotype Ontology C1860202 HP:0004606 16 Feb 2016 Finding Unroofed coronary sinus Human Phenotype Ontology C4551626 HP:0031297 04 Apr 2018 Finding Uns malignant neoplasm breast NCBI curation CN160480 16 Feb 2016 Disease Unspecified encephalopathy NCBI curation C0085584 16 Feb 2016 Disease unspecified heart condition 22 Oct 2019 Disease Unspecified inborn mitochondrial disorder MONDO CN227004 MONDO:0016803 17 Apr 2020 Disease Unspecified juvenile idiopathic arthritis MONDO CN229196 MONDO:0019607 17 Apr 2020 Disease unspecified muscle atrophy 07 Nov 2019 Finding Unstable hemoglobin disease MONDO C0272006 MONDO:0020459 17 Apr 2020 Disease Unsteady gait Human Phenotype Ontology C0231686 HP:0002317 16 Feb 2016 Finding Unusual dermatoglyphics Human Phenotype Ontology C4024846 HP:0007560 16 Feb 2016 Finding unusual skull shape with or without craniosynostosis CN234768 16 Feb 2016 Finding Unverricht-Lundborg syndrome C0751785 254800 16 Feb 2016 Disease up-slanting palpebral fissures 22 Aug 2019 Finding Upbeat nystagmus Human Phenotype Ontology C0585545 HP:0011477 16 Feb 2016 Finding Upgaze palsy Human Phenotype Ontology C4476705 HP:0025331 02 Apr 2017 Finding Upington disease C1860596 191520 16 Feb 2016 Disease Uplifted earlobe Human Phenotype Ontology C1856117 HP:0009909 16 Feb 2016 Finding Upper aerodigestive tract neoplasm MONDO MONDO:0005398 17 Apr 2020 Disease Upper airway obstruction Human Phenotype Ontology C0740852 HP:0002781 16 Feb 2016 Finding Upper clivus meningioma MONDO C1336871 MONDO:0004503 17 Apr 2020 Disease Upper digestive tract disease MONDO MONDO:0044991 17 Apr 2020 Disease Upper extremity joint dislocation Human Phenotype Ontology C4022517 HP:0030310 16 Feb 2016 Finding Upper eyelid coloboma Human Phenotype Ontology C1863872 HP:0000636 16 Feb 2016 Finding Upper eyelid edema Human Phenotype Ontology C3839407 HP:0012724 16 Feb 2016 Finding Upper gum cancer MONDO C0153365 MONDO:0004615 17 Apr 2020 Disease Upper limb amyotrophy Human Phenotype Ontology C4021523 HP:0009129 16 Feb 2016 Finding Upper limb asymmetry Human Phenotype Ontology C4022024 HP:0100560 16 Feb 2016 Finding Upper limb dysmetria Human Phenotype Ontology C3280708 HP:0020036 04 Apr 2018 Finding Upper limb hypertonia Human Phenotype Ontology C4021898 HP:0200049 16 Feb 2016 Finding Upper limb mesomelic dysplasia MONDO C1860614 MONDO:0008620 191440 17 Apr 2020 Disease Upper limb metaphyseal widening Human Phenotype Ontology C4021719 HP:0003856 16 Feb 2016 Finding Upper limb mononeuronitis MONDO MONDO:0002130 17 Apr 2020 Disease Upper limb muscle hypertrophy Human Phenotype Ontology C4280687 HP:0040265 02 Apr 2017 Finding Upper limb muscle hypoplasia Human Phenotype Ontology C1846478 HP:0009016 16 Feb 2016 Finding Upper limb muscle weakness Human Phenotype Ontology C1698196 HP:0003484 16 Feb 2016 Finding Upper limb pain Human Phenotype Ontology C0239377 HP:0012513 16 Feb 2016 Finding Upper limb peromelia Human Phenotype Ontology C4024199 HP:0009814 16 Feb 2016 Finding Upper limb phocomelia Human Phenotype Ontology C0265573 HP:0009813 16 Feb 2016 Finding Upper limb postural tremor Human Phenotype Ontology C1867138 HP:0007351 16 Feb 2016 Finding Upper limb spasticity Human Phenotype Ontology C1273957 HP:0006986 16 Feb 2016 Finding Upper limb undergrowth Human Phenotype Ontology C1837406 HP:0009824 16 Feb 2016 Finding Upper lip cancer MONDO MONDO:0004621 17 Apr 2020 Disease Upper lip pit Human Phenotype Ontology C4022176 HP:0100268 16 Feb 2016 Finding Upper motor neuron dysfunction Human Phenotype Ontology C1839042 HP:0002493 16 Feb 2016 Finding Upper respiratory tract disease MONDO MONDO:0004867 17 Apr 2020 Disease Upper thoracic spina bifida aperta MONDO CN202428 MONDO:0017068 17 Apr 2020 Disease Upper thoracic spina bifida cystica MONDO CN202435 MONDO:0017075 17 Apr 2020 Disease Upper tract urothelial carcinoma MONDO MONDO:0020659 17 Apr 2020 Disease Upper-limb metaphyseal irregularity Human Phenotype Ontology C4021720 HP:0003850 16 Feb 2016 Finding Upshaw-Schulman syndrome C1268935 274150 16 Feb 2016 Disease Upslanted palpebral fissure Human Phenotype Ontology C0423109 HP:0000582 16 Feb 2016 Finding upslanting eyes 11 May 2019 Finding Upton Young syndrome 16 Feb 2016 Disease Upturned corners of mouth Human Phenotype Ontology C3553471 HP:0010805 16 Feb 2016 Finding Urachal adenocarcinoma 16 Feb 2016 Disease Urachal cancer 16 Feb 2016 Disease Urachal cyst (disease) MONDO C0041915 MONDO:0018844 17 Apr 2020 Disease Urachal diverticulum MONDO C0431743 MONDO:0018553 17 Apr 2020 Disease Urachal sinus MONDO C3472657 MONDO:0018552 17 Apr 2020 Disease Urachus cancer MONDO C0153615 MONDO:0001378 17 Apr 2020 Disease Urachus fistula Human Phenotype Ontology C0345344 HP:0100525 16 Feb 2016 Finding Uraciluria Human Phenotype Ontology C4021833 HP:0012127 16 Feb 2016 Finding Urate-binding globulin, decrease in NCBI curation C1860587 191530 16 Feb 2016 Disease Urban-Rogers-Meyer syndrome MONDO C0796189 MONDO:0009905 264010 22 Apr 2020 Disease Ureaplasma urethritis MONDO CN281662 MONDO:0007007 04 Jun 2020 Infectious disease Uremia MONDO C0041948 MONDO:0007008 17 Apr 2020 Disease Uremic neuropathy MONDO C0268708 MONDO:0003084 17 Apr 2020 Disease Ureter adenocarcinoma MONDO C1336873 MONDO:0003216 17 Apr 2020 Disease Ureter benign neoplasm MONDO MONDO:0001398 17 Apr 2020 Disease Ureter carcinoma MONDO C0600079 MONDO:0006481 17 Apr 2020 Disease Ureter duplex Human Phenotype Ontology C4551489 HP:0012572 16 Feb 2016 Finding Ureter fissus Human Phenotype Ontology C4021079 HP:0012571 16 Feb 2016 Finding Ureter inverted papilloma MONDO C1336874 MONDO:0004043 17 Apr 2020 Disease Ureter leiomyoma MONDO C1336875 MONDO:0001399 17 Apr 2020 Disease Ureter neoplasm MONDO MONDO:0021111 17 Apr 2020 Disease Ureter small cell carcinoma MONDO C1336878 MONDO:0006482 17 Apr 2020 Disease Ureter squamous cell carcinoma MONDO C1336879 MONDO:0003502 17 Apr 2020 Disease Ureter transitional cell carcinoma MONDO C0577692 MONDO:0004030 17 Apr 2020 Disease Ureter tuberculosis MONDO C0152800 MONDO:0004517 04 Jun 2020 Infectious disease Ureter urothelial papilloma MONDO C1519823 MONDO:0004044 17 Apr 2020 Disease Ureter, bifid or double NCBI curation C1860586 191550 16 Feb 2016 Disease Ureteral agenesis Human Phenotype Ontology C4022959 HP:0012300 16 Feb 2016 Finding Ureteral atresia Human Phenotype Ontology C0266320 HP:0005999 16 Feb 2016 Finding Ureteral disease MONDO MONDO:0001926 17 Apr 2020 Disease Ureteral duplication Human Phenotype Ontology C0221365 HP:0000073 16 Feb 2016 Finding Ureteral dysgenesis Human Phenotype Ontology C4024653 HP:0008631 16 Feb 2016 Finding Ureteral lymphoma MONDO C1336876 MONDO:0001977 17 Apr 2020 Disease Ureteral obstruction Human Phenotype Ontology C0041956 HP:0006000 16 Feb 2016 Finding Ureteral obstruction (disease) MONDO MONDO:0003329 17 Apr 2020 Disease Ureteral stenosis Human Phenotype Ontology C0521618 HP:0000071 16 Feb 2016 Finding Ureteral triplication Human Phenotype Ontology C4024635 HP:0008705 16 Feb 2016 Finding Ureteric orifice cancer MONDO C0153614 MONDO:0001379 17 Apr 2020 Disease Ureteritis MONDO C0041959 MONDO:0021960 17 Apr 2020 Disease Ureterocele Human Phenotype Ontology C0041960 HP:0000070 191650 16 Feb 2016 Disease Ureterolithiasis MONDO C0041952 MONDO:0007009 17 Apr 2020 Disease Ureteropelvic junction obstruction Human Phenotype Ontology C0521619 HP:0000074 16 Feb 2016 Finding Ureterovesical junction obstruction Human Phenotype Ontology C2609249 HP:0030735 02 Apr 2017 Finding Ureterovesical stenosis Human Phenotype Ontology C4024633 HP:0008714 16 Feb 2016 Finding Urethra adenocarcinoma MONDO C1336885 MONDO:0003200 17 Apr 2020 Disease Urethra cancer MONDO MONDO:0004192 17 Apr 2020 Disease Urethra clear cell adenocarcinoma MONDO C1336886 MONDO:0003387 17 Apr 2020 Disease Urethra inverted papilloma MONDO C1336887 MONDO:0004042 17 Apr 2020 Disease Urethra leiomyoma MONDO C1336888 MONDO:0002222 17 Apr 2020 Disease Urethra neoplasm MONDO MONDO:0021239 17 Apr 2020 Disease Urethra squamous cell carcinoma MONDO C1336890 MONDO:0002764 17 Apr 2020 Disease Urethra transitional cell carcinoma MONDO C0863015 MONDO:0002836 17 Apr 2020 Disease Urethral atresia Human Phenotype Ontology C1610065 HP:0000068 16 Feb 2016 Finding Urethral atresia, female Human Phenotype Ontology C4025890 HP:0000067 16 Feb 2016 Finding Urethral atresia, male Human Phenotype Ontology C4025894 HP:0000052 16 Feb 2016 Finding Urethral calculus MONDO C0162301 MONDO:0004826 17 Apr 2020 Disease Urethral cancer 16 Feb 2016 Disease Urethral disease MONDO C0041969 MONDO:0004184 17 Apr 2020 Disease Urethral diverticulum Human Phenotype Ontology C0152443 HP:0008722 16 Feb 2016 Finding Urethral false passage MONDO MONDO:0004760 17 Apr 2020 Disease Urethral fistula Human Phenotype Ontology C0041970 HP:0010480 16 Feb 2016 Finding Urethral gland abscess MONDO MONDO:0004909 17 Apr 2020 Disease Urethral intrinsic sphincter deficiency MONDO C0375381 MONDO:0001721 17 Apr 2020 Disease Urethral obstruction Human Phenotype Ontology C0041972 HP:0000796 16 Feb 2016 Finding Urethral sphincter sclerosis Human Phenotype Ontology C4024643 HP:0008664 16 Feb 2016 Finding Urethral stenosis Human Phenotype Ontology C0041974 HP:0008661 16 Feb 2016 Finding Urethral stricture Human Phenotype Ontology C4551691 HP:0012227 16 Feb 2016 Finding Urethral syndrome MONDO C0156279 MONDO:0001730 17 Apr 2020 Disease Urethral urothelial papilloma MONDO C1519826 MONDO:0002221 17 Apr 2020 Disease Urethral valve Human Phenotype Ontology C0266345 HP:0010481 16 Feb 2016 Finding Urethral verrucous carcinoma MONDO C1519827 MONDO:0002763 17 Apr 2020 Disease Urethral villous adenoma MONDO C1519828 MONDO:0003565 17 Apr 2020 Disease Urethritis Human Phenotype Ontology C0041976 HP:0500006 04 Apr 2018 Finding Urethritis (disease) MONDO CN281761 MONDO:0005297 04 Jun 2020 Infectious disease Urethrocele Human Phenotype Ontology C0238502 HP:0100821 16 Feb 2016 Finding Urethrovaginal fistula Human Phenotype Ontology C0269133 HP:0008716 16 Feb 2016 Finding Uric acid concentration, serum, quantitative trait locus 1 NCBI curation C1841837 138900 16 Feb 2016 Disease Uric acid concentration, serum, quantitative trait locus 2 NCBI curation C2677550 16 Feb 2016 Disease Uric acid concentration, serum, quantitative trait locus 4 NCBI curation C2675207 612671 16 Feb 2016 Disease Uric acid concentration, serum, quantitative trait locus 5 NCBI curation C3553634 614746 16 Feb 2016 Disease Uric acid concentration, serum, quantitative trait locus 6 NCBI curation C3553635 614747 16 Feb 2016 Disease Uric acid nephrolithiasis Human Phenotype Ontology C0403719 HP:0000791 16 Feb 2016 Finding Uric acid nephrolithiasis, susceptibility to NCBI curation C2700426 605990 16 Feb 2016 Disease Uric acid urolithiasis independent of gout Human Phenotype Ontology C4024647 HP:0008651 16 Feb 2016 Finding Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to NCBI curation C1849507 266120 16 Feb 2016 Disease URIDINE-CYTIDINEURIA OMIM C4760647 618477 618477 19 Jun 2019 Disease Urinary bladder anterior wall cancer MONDO C0153611 MONDO:0001376 17 Apr 2020 Disease Urinary bladder cancer MONDO C0005684 MONDO:0001187 109800 06 May 2020 Disease Urinary bladder disease MONDO C0005686 MONDO:0006026 17 Apr 2020 Disease Urinary bladder inflammation Human Phenotype Ontology C0010692 HP:0100577 16 Feb 2016 Finding Urinary bladder inverted papilloma MONDO C1511190 MONDO:0004040 17 Apr 2020 Disease Urinary bladder posterior wall cancer MONDO C0153612 MONDO:0001373 17 Apr 2020 Disease Urinary bladder sphincter dysfunction Human Phenotype Ontology C1843663 HP:0002839 16 Feb 2016 Finding Urinary bladder tuberculosis MONDO C0152793 MONDO:0004272 04 Jun 2020 Infectious disease Urinary bladder villous adenoma MONDO C1336893 MONDO:0003439 17 Apr 2020 Disease urinary calculus 14 Mar 2019 Finding Urinary excretion of sialylated oligosaccharides Human Phenotype Ontology C2673302 HP:0012061 16 Feb 2016 Finding Urinary glycosaminoglycan excretion Human Phenotype Ontology C4025598 HP:0003541 16 Feb 2016 Finding Urinary hesitancy Human Phenotype Ontology C0152032 HP:0000019 16 Feb 2016 Finding Urinary incontinence Human Phenotype Ontology C0042024 HP:0000020 16 Feb 2016 Finding Urinary retention Human Phenotype Ontology C0080274 HP:0000016 16 Feb 2016 Finding Urinary schistosomiasis MONDO C1704430 MONDO:0006001 04 Jun 2020 Infectious disease Urinary system disease MONDO C1335051 MONDO:0002118 17 Apr 2020 Disease Urinary system neoplasm MONDO MONDO:0021066 17 Apr 2020 Disease Urinary tract atresia Human Phenotype Ontology C1389003 HP:0000809 16 Feb 2016 Finding Urinary tract infection (disease) MONDO CN281760 MONDO:0005247 04 Jun 2020 Infectious disease Urinary tract infections, recurrent, susceptibility to NCBI curation C1863514 603806 16 Feb 2016 Disease Urinary tract neoplasm Human Phenotype Ontology C0042076 HP:0010786 16 Feb 2016 Finding Urinary tract non-invasive transitional cell neoplasm MONDO C1518361 MONDO:0003755 17 Apr 2020 Disease Urinary tract obstruction MONDO C0178879 MONDO:0003330 17 Apr 2020 Disease Urinary urgency Human Phenotype Ontology C0085606 HP:0000012 16 Feb 2016 Finding Urine turns black when exposed to air 24 Jun 2020 Finding Urocanate hydratase deficiency C0268514 276880 16 Feb 2016 Disease Urofacial syndrome 1 NCBI curation CN033872 236730 01 Feb 2020 Disease Urofacial syndrome 2 NCBI curation C3554520 615112 16 Feb 2016 Disease Urogenital adysplasia C2674045 16 Feb 2016 Disease Urogenital fistula Human Phenotype Ontology C0853877 HP:0100589 16 Feb 2016 Finding Urogenital neoplasm MONDO MONDO:0025370 17 Apr 2020 Disease Urogenital sinus anomaly Human Phenotype Ontology C4021972 HP:0100779 16 Feb 2016 Finding Urogenital tract malformation MONDO CN206039 MONDO:0019356 17 Apr 2020 Disease Urogenital tuberculosis MONDO C0041333 MONDO:0006002 04 Jun 2020 Infectious disease Urolithiasis MONDO C0451641 MONDO:0024647 17 Apr 2020 Disease Urolithiasis, 2,8-dihydroxyadenine, included NCBI curation 16 Feb 2016 Disease Urolithiasis, dha NCBI curation 16 Feb 2016 Disease Urolithiasis, uric acid, autosomal dominant NCBI curation C2674049 191700 16 Feb 2016 Disease Urology CN282578 17 Jun 2020 Pharmacological response Uromodulin-associated kidney disease CN239214 02 Dec 2016 Disease Uropathy distal obstructive polydactyly 16 Feb 2016 Disease Urothelial carcinoma MONDO C2145472 MONDO:0040679 17 Apr 2020 Disease Urothelial dysplasia MONDO C1275859 MONDO:0006483 17 Apr 2020 Disease Urothelial hyperplasia MONDO C1336895 MONDO:0024483 17 Apr 2020 Disease Urothelial neoplasm MONDO C1519840 MONDO:0024337 17 Apr 2020 Disease Urothelial papilloma MONDO C0235754 MONDO:0004041 17 Apr 2020 Disease Urticaria (disease) MONDO C0042109 MONDO:0005492 17 Apr 2020 Disease Urticaria pigmentosa 16 Feb 2016 Disease Urticaria, familial localized heat NCBI curation C1860551 191950 16 Feb 2016 Disease Urticarial plaque Human Phenotype Ontology C4072895 HP:0030351 16 Feb 2016 Finding Uruguay faciocardiomusculoskeletal syndrome NCBI curation C1846010 300280 16 Feb 2016 Disease Ush1d/f, cdh23/pcdh15 digenic NCBI curation 16 Feb 2016 Disease USH1G-Related Disorders 23 May 2019 Disease USH2A-Related Disorders CN239332 02 Dec 2016 Disease Usher syndrome OMIM phenotypic series C0271097 PS276900 08 Sep 2017 Disease Usher syndrome Orphanet C0271097 ORPHA886 08 Sep 2017 Disease Usher syndrome type 1 MONDO C1568247 MONDO:0010168 276900 22 Apr 2020 Disease Usher syndrome type 1D MONDO C1832845 MONDO:0010984 601067 22 Apr 2020 Disease Usher syndrome type 1E MONDO C1865865 MONDO:0011195 602097 22 Apr 2020 Disease Usher syndrome type 1F MONDO C1865885 MONDO:0011186 602083 22 Apr 2020 Disease Usher syndrome type 2 C0339534 16 Feb 2016 Disease Usher syndrome type 2c, GPR98/PDZD digenic NCBI curation C3148929 16 Feb 2016 Disease Usher syndrome type ID/F, CDH23/PCDH15, digenic NCBI curation CN121478 16 Feb 2016 Disease Usher Syndrome, Type 1A C2931205 10 May 2019 Disease Usher syndrome, type 1B C1848638 16 Feb 2016 Disease Usher syndrome, type 1C NCBI curation C1848604 276904 16 Feb 2016 Disease Usher syndrome, type 1D/F digenic CN260023 18 Jun 2019 Disease Usher syndrome, type 1G NCBI curation C1847089 606943 16 Feb 2016 Disease Usher syndrome, type 1H NCBI curation C2675458 612632 16 Feb 2016 Disease Usher syndrome, type 1J NCBI curation C3553944 614869 16 Feb 2016 Disease Usher syndrome, type 1K NCBI curation C3539124 614990 16 Feb 2016 Disease USHER SYNDROME, TYPE 1M OMIM C5231434 618632 618632 24 Oct 2019 Disease Usher syndrome, type 2A NCBI curation C1848634 276901 16 Feb 2016 Disease Usher syndrome, type 2C NCBI curation C2931213 605472 16 Feb 2016 Disease Usher syndrome, type 2C, GPR98/PDZD7 digenic CN260024 18 Jun 2019 Disease Usher syndrome, type 2D NCBI curation C1568249 611383 16 Feb 2016 Disease Usher syndrome, type 3A NCBI curation C1568248 276902 18 Apr 2016 Disease Usher syndrome, type 3B NCBI curation C3281066 614504 16 Feb 2016 Disease Usher syndrome, type 4 MONDO C4748364 MONDO:0029141 618144 22 Apr 2020 Disease USHER SYNDROME, TYPE ID/F, DIGENIC C3276419 16 Feb 2016 Disease USP7-related condition 27 Apr 2018 Finding USP7-related neurodevelopmental disorder 21 May 2020 Disease USP9X related disorders 13 Oct 2017 Disease Usual ductal breast hyperplasia MONDO C3532429 MONDO:0006484 17 Apr 2020 Disease Uterine adnexa cancer MONDO MONDO:0001351 17 Apr 2020 Disease Uterine arteriovenous malformation Human Phenotype Ontology C4531179 HP:0031347 04 Apr 2018 Finding Uterine benign neoplasm MONDO C0153999 MONDO:0000632 17 Apr 2020 Disease Uterine body mixed cancer MONDO C1334628 MONDO:0002879 17 Apr 2020 Disease Uterine cancer 26 Jul 2018 Finding Uterine carcinoma MONDO C2960452 MONDO:0005213 17 Apr 2020 Disease Uterine Carcinosarcoma NCBI curation C0280630 02 Mar 2017 Disease Uterine cervical aplasia and agenesis MONDO CN226750 MONDO:0015845 17 Apr 2020 Disease Uterine cervical neoplasms PharmGKB CN236667 06 Jul 2018 Disease Uterine cervix carcinoma in situ MONDO C0851140 MONDO:0042487 17 Apr 2020 Disease Uterine cervix leukoplakia MONDO C0269194 MONDO:0004702 17 Apr 2020 Disease Uterine cervix neoplasm MONDO MONDO:0021230 17 Apr 2020 Disease Uterine corpus adenocarcinofibroma MONDO MONDO:0004172 17 Apr 2020 Disease Uterine corpus adenofibroma MONDO C1336901 MONDO:0003458 17 Apr 2020 Disease Uterine corpus adenomatoid tumor MONDO C1336902 MONDO:0001781 17 Apr 2020 Disease Uterine corpus adenosarcoma MONDO C1336917 MONDO:0002878 17 Apr 2020 Disease Uterine corpus apoplectic leiomyoma MONDO C1519852 MONDO:0004161 17 Apr 2020 Disease Uterine corpus atypical polypoid adenomyoma MONDO C1519844 MONDO:0004386 17 Apr 2020 Disease Uterine corpus bizarre leiomyoma MONDO C1519853 MONDO:0001846 17 Apr 2020 Disease Uterine corpus cancer MONDO C1883486 MONDO:0006003 17 Apr 2020 Disease Uterine corpus cellular leiomyoma MONDO C1519845 MONDO:0004162 17 Apr 2020 Disease Uterine corpus choriocarcinoma MONDO C1336904 MONDO:0004491 17 Apr 2020 Disease Uterine corpus diffuse leiomyomatosis MONDO C1519855 MONDO:0003704 17 Apr 2020 Disease Uterine corpus dissecting leiomyoma MONDO C1519847 MONDO:0001842 17 Apr 2020 Disease Uterine corpus endometrial carcinoma MONDO MONDO:0000553 17 Apr 2020 Disease Uterine corpus endometrial stromal sarcoma MONDO C1519849 MONDO:0002923 17 Apr 2020 Disease Uterine corpus epithelioid leiomyoma MONDO C1519850 MONDO:0001841 17 Apr 2020 Disease Uterine corpus epithelioid leiomyosarcoma MONDO C1519851 MONDO:0003782 17 Apr 2020 Disease Uterine corpus lipoleiomyoma MONDO C1519856 MONDO:0001845 17 Apr 2020 Disease Uterine corpus myxoid leiomyoma MONDO C1519860 MONDO:0001844 17 Apr 2020 Disease Uterine corpus myxoid leiomyosarcoma MONDO C1519861 MONDO:0003928 17 Apr 2020 Disease Uterine corpus neuroendocrine neoplasm MONDO C4288048 MONDO:0021650 17 Apr 2020 Disease Uterine corpus perivascular epithelioid cell tumor MONDO C1519862 MONDO:0004221 17 Apr 2020 Disease Uterine corpus sarcoma MONDO C0338113 MONDO:0005210 17 Apr 2020 Disease Uterine corpus serous adenocarcinoma MONDO MONDO:0003629 17 Apr 2020 Disease Uterine disease MONDO C0042131 MONDO:0002654 17 Apr 2020 Disease Uterine inflammatory disease MONDO C0269047 MONDO:0001786 17 Apr 2020 Disease Uterine inversion MONDO C0162482 MONDO:0004936 17 Apr 2020 Disease Uterine leiomyoma Human Phenotype Ontology C0042133 HP:0000131 150699 16 Feb 2016 Disease Uterine leiomyosarcoma Human Phenotype Ontology C0280631 HP:0002891 16 Feb 2016 Finding Uterine ligament adenocarcinoma MONDO C1519866 MONDO:0002741 17 Apr 2020 Disease Uterine ligament adenosarcoma MONDO C3640823 MONDO:0200000 17 Apr 2020 Disease Uterine ligament cancer MONDO C0864950 MONDO:0003612 17 Apr 2020 Disease Uterine ligament clear cell adenocarcinoma MONDO C1519867 MONDO:0003384 17 Apr 2020 Disease Uterine ligament endometrioid adenocarcinoma MONDO C1519868 MONDO:0003663 17 Apr 2020 Disease Uterine ligament mucinous adenocarcinoma MONDO C1519869 MONDO:0002740 17 Apr 2020 Disease Uterine ligament neoplasm MONDO C1519870 MONDO:0021629 17 Apr 2020 Disease Uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease MONDO C3642324 MONDO:0003611 17 Apr 2020 Disease Uterine ligament serous adenocarcinoma MONDO C1519872 MONDO:0003626 17 Apr 2020 Disease Uterine polyp MONDO C0156369 MONDO:0004701 17 Apr 2020 Disease Uterine prolapse Human Phenotype Ontology C0042140 HP:0000139 16 Feb 2016 Finding Uterine rupture Human Phenotype Ontology C0042143 HP:0100718 16 Feb 2016 Finding Uterine sarcoma 16 Feb 2016 Disease Uterine synechiae Human Phenotype Ontology C0156372 HP:0030712 02 Apr 2017 Finding Uterovaginal malformation MONDO CN226747 MONDO:0015828 17 Apr 2020 Disease Uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis NCBI curation C1860549 192050 16 Feb 2016 Disease Uterus carcinoma in situ MONDO C0686237 MONDO:0004710 17 Apr 2020 Disease Uterus didelphys Human Phenotype Ontology C0266393 HP:0003762 16 Feb 2016 Finding Uterus interstitial leiomyoma MONDO C0153994 MONDO:0001843 17 Apr 2020 Disease Uterus intravascular leiomyomatosis MONDO MONDO:0003702 17 Apr 2020 Disease Uv-induced skin damage, susceptibility to NCBI curation C2678403 16 Feb 2016 Disease UV-sensitive syndrome OMIM phenotypic series C1833561 PS600630 24 Dec 2019 Disease UV-sensitive syndrome Orphanet C1833561 ORPHA178338 24 Dec 2019 Disease UV-sensitive syndrome 1 NCBI curation C3551173 600630 24 Dec 2019 Disease UV-sensitive syndrome 2 NCBI curation C3553298 614621 16 Feb 2016 Disease UV-sensitive syndrome 3 NCBI curation C3553328 614640 16 Feb 2016 Disease Uvea neoplasm MONDO C0042162 MONDO:0021225 17 Apr 2020 Disease Uveal cancer MONDO C1334629 MONDO:0002659 17 Apr 2020 Disease Uveal disease MONDO C0042161 MONDO:0002661 17 Apr 2020 Disease Uveal diseases 16 Feb 2016 Disease Uveal ectropion Human Phenotype Ontology C0423325 HP:0025358 02 Apr 2017 Finding Uveal melanoma Orphanet CN204945 ORPHA39044 15 Mar 2019 Disease Uveitis Human Phenotype Ontology C0042164 HP:0000554 16 Feb 2016 Finding Uveoparotid fever MONDO C0042171 MONDO:0007011 17 Apr 2020 Disease Uvula cancer MONDO C0153377 MONDO:0004624 17 Apr 2020 Disease Uvulitis MONDO C0042174 MONDO:0000739 17 Apr 2020 Disease V-sign Human Phenotype Ontology C4476838 HP:0025536 04 Apr 2018 Finding Vaccinia MONDO C0042214 MONDO:0002595 04 Jun 2020 Infectious disease VACTERL association NCBI curation C1735591 16 Feb 2016 Disease VACTERL association with hydrocephalus NCBI curation C1848599 276950 06 Sep 2016 Disease VACTERL association with hydrocephaly, X-linked C2931228 314390 16 Feb 2016 Disease VACTERL hydrocephaly 16 Feb 2016 Disease Vacuolar myopathy 16 Feb 2016 Disease Vacuolar neuromyopathy NCBI curation C1866139 601846 16 Feb 2016 Disease Vacuolated lymphocytes Human Phenotype Ontology C1836855 HP:0001922 16 Feb 2016 Finding Vagal paraganglioma Human Phenotype Ontology C0474819 HP:0002886 16 Feb 2016 Finding Vagina leiomyosarcoma MONDO C1336940 MONDO:0003369 17 Apr 2020 Disease Vagina sarcoma MONDO C0238519 MONDO:0002140 17 Apr 2020 Disease Vagina, absence of 16 Feb 2016 Disease Vaginal adenocarcinoma MONDO C0279668 MONDO:0020653 17 Apr 2020 Disease Vaginal adenoid cystic carcinoma MONDO C1519912 MONDO:0006487 17 Apr 2020 Disease Vaginal adenoma MONDO C1519913 MONDO:0003434 17 Apr 2020 Disease Vaginal adenosarcoma MONDO C1519914 MONDO:0002881 17 Apr 2020 Disease Vaginal adenosis Human Phenotype Ontology C0269214 HP:0025485 04 Apr 2018 Finding Vaginal atresia Human Phenotype Ontology C1321884 HP:0000148 16 Feb 2016 Finding Vaginal birth after Caesarian Human Phenotype Ontology C0080301 HP:0030365 16 Feb 2016 Finding Vaginal cancer 16 Feb 2016 Disease Vaginal carcinoma MONDO C0262659 MONDO:0015867 17 Apr 2020 Disease Vaginal carcinosarcoma MONDO C1519918 MONDO:0006488 17 Apr 2020 Disease Vaginal clear cell adenocarcinoma Human Phenotype Ontology C0238517 HP:0031521 04 Apr 2018 Finding Vaginal discharge MONDO C0227791 MONDO:0002770 17 Apr 2020 Disease Vaginal disease MONDO C0042251 MONDO:0001433 17 Apr 2020 Disease Vaginal dryness Human Phenotype Ontology C0241633 HP:0031088 04 Apr 2018 Finding Vaginal enterocele MONDO C0205792 MONDO:0001589 17 Apr 2020 Disease Vaginal fibroepithelial polyp MONDO C0750071 MONDO:0060774 17 Apr 2020 Disease Vaginal fish odor Human Phenotype Ontology C4477066 HP:0410022 04 Apr 2018 Finding Vaginal fistula Human Phenotype Ontology C0042253 HP:0004320 16 Feb 2016 Finding Vaginal germ cell malignant tumor MONDO C4749402 MONDO:0016094 17 Apr 2020 Disease Vaginal glandular neoplasm MONDO C1519921 MONDO:0001704 17 Apr 2020 Disease Vaginal hematocele Human Phenotype Ontology C1456401 HP:0100674 16 Feb 2016 Finding Vaginal hernia Human Phenotype Ontology C1442998 HP:0100672 16 Feb 2016 Finding Vaginal hydrocele Human Phenotype Ontology CN117565 HP:0100673 16 Feb 2016 Finding Vaginal leiomyoma MONDO C1336939 MONDO:0001536 17 Apr 2020 Disease Vaginal lymphocele Human Phenotype Ontology C4021999 HP:0100676 16 Feb 2016 Finding Vaginal melanoma MONDO C2004576 MONDO:0006489 17 Apr 2020 Disease Vaginal mullerian papilloma MONDO C1519926 MONDO:0001680 17 Apr 2020 Disease Vaginal neoplasm Human Phenotype Ontology C0042258 HP:0100650 16 Feb 2016 Finding Vaginal pruritus Human Phenotype Ontology C0042256 HP:0030161 16 Feb 2016 Finding Vaginal pyocele Human Phenotype Ontology C4022000 HP:0100675 16 Feb 2016 Finding Vaginal squamous cell carcinoma MONDO C0238518 MONDO:0006490 17 Apr 2020 Disease Vaginal squamous papilloma MONDO C1336943 MONDO:0001779 17 Apr 2020 Disease Vaginal squamous tumor MONDO C1519931 MONDO:0001806 17 Apr 2020 Disease Vaginal stricture Human Phenotype Ontology C0269208 HP:0025416 04 Apr 2018 Finding Vaginal tubular adenoma MONDO C1519932 MONDO:0003998 17 Apr 2020 Disease Vaginal tubulovillous adenoma MONDO C1519933 MONDO:0004461 17 Apr 2020 Disease Vaginal villous adenoma MONDO C1519936 MONDO:0003946 17 Apr 2020 Disease Vaginal yolk sac tumor MONDO C1336945 MONDO:0002143 17 Apr 2020 Disease Vaginismus Human Phenotype Ontology C2004487 HP:0030017 16 Feb 2016 Finding Vaginitis Human Phenotype Ontology C0042267 HP:0030683 02 Apr 2017 Finding Vagneur-Triolle-Ripert syndrome MONDO MONDO:0042924 22 Apr 2020 Disease Vagus nerve disease MONDO C0152179 MONDO:0001535 17 Apr 2020 Disease Vagus nerve neoplasm MONDO C1263901 MONDO:0001608 17 Apr 2020 Disease Vagus nerve paraganglioma MONDO CN036786 MONDO:0044768 17 Apr 2020 Disease Vah, autosomal recessive NCBI curation 16 Feb 2016 Disease Valbenazine Response CN282579 17 Jun 2020 Pharmacological response Valgus hand deformity Human Phenotype Ontology C1860179 HP:0006228 16 Feb 2016 Finding Valine metabolism disease MONDO C2919304 MONDO:0037870 17 Apr 2020 Disease Vallecula cancer MONDO C0153386 MONDO:0004607 17 Apr 2020 Disease Valproate embryopathy, susceptibility to NCBI curation C1876218 609442 16 Feb 2016 Disease Valproate sensitivity NCBI curation 16 Feb 2016 Disease Valproic Acid response CN078027 16 Feb 2016 Pharmacological response Van Allen Myhre syndrome 16 Feb 2016 Disease Van Benthem-Driessen-Hanveld syndrome 16 Feb 2016 Disease Van Bogaert-Hozay syndrome C1848598 277150 16 Feb 2016 Disease Van Buchem disease type 2 C1843323 607636 16 Feb 2016 Disease Van Den Bosch syndrome C0796192 314500 16 Feb 2016 Disease Van den Ende-Gupta syndrome MONDO C1833136 MONDO:0010959 600920 22 Apr 2020 Disease Van der Woude syndrome C4551864 119300 16 Feb 2016 Disease Van der Woude syndrome 1, modifier of NCBI curation C1858298 604547 26 May 2016 Disease Van der Woude syndrome 2 NCBI curation C1847604 606713 26 May 2016 Disease VAN ESCH-O''''DRISCOLL SYNDROME OMIM C5193012 301030 301030 07 Aug 2019 Disease Van Goethem syndrome 16 Feb 2016 Disease Van Maldergem syndrome OMIM phenotypic series CN238799 PS601390 23 Oct 2016 Disease Van Maldergem syndrome 1 NCBI curation C4551950 601390 23 Oct 2016 Disease Van Maldergem syndrome 2 NCBI curation C3809875 615546 16 Feb 2016 Disease Van Regemorter Pierquin Vamos syndrome 16 Feb 2016 Disease Vancomycin-resistant enterococcal bacteremia 16 Feb 2016 Disease Vanishing testis Human Phenotype Ontology CN188791 HP:0012870 16 Feb 2016 Finding vanishing white matter disease 29 Jun 2020 Disease Vanishing white matter leukodystrophy 29 Nov 2018 Finding Vanishing white matter leukodystrophy with ovarian failure NCBI curation 16 Feb 2016 Disease Variable age onset epilepsy MONDO MONDO:0100036 17 Apr 2020 Disease variable phenotype C1837514 16 Feb 2016 Finding Variant ABeta2M amyloidosis MONDO C4302669 MONDO:0017810 17 Apr 2020 Disease Variant Creutzfeldt-Jakob disease NCBI curation C0376329 16 Feb 2016 Disease Variant of Guillain-Barre syndrome MONDO CN201495 MONDO:0016493 17 Apr 2020 Disease variant of stiff person syndrome 05 Sep 2019 Finding VARIANT OF UNKNOWN SIGNIFICANCE 25 Jun 2020 Disease Variant of unknown significance NCBI curation C2986382 16 Feb 2016 Disease Varicella virus antenatal infection 16 Feb 2016 Disease Varicella zoster infection MONDO C0586989 MONDO:0005608 04 Jun 2020 Infectious disease Varicella, severe recurrent MONDO C1833487 MONDO:0010919 600670 22 Apr 2020 Disease Varicocele Human Phenotype Ontology C0042341 HP:0012871 16 Feb 2016 Finding Varicose altered vessels 01 Aug 2019 Finding Varicose veins Human Phenotype Ontology C0042345 HP:0002619 192200 16 Feb 2016 Disease Variegate porphyria C0162532 176200 16 Feb 2016 Disease Variegate porphyria, homozygous NCBI curation C0342860 16 Feb 2016 Disease Variegate porphyria, homozygous variant NCBI curation 16 Feb 2016 Disease Variola major infectious disease MONDO C1812609 MONDO:0000338 04 Jun 2020 Infectious disease Variola minor infection MONDO C0001906 MONDO:0004720 04 Jun 2020 Infectious disease varus deformity of hands 11 May 2019 Finding Varus deformity of humeral neck Human Phenotype Ontology C1854948 HP:0006362 16 Feb 2016 Finding Vas deferens, congenital bilateral aplasia of, X-linked NCBI curation C4310815 300985 20 Jun 2017 Disease VAS DEFERENS, CONGENITAL UNILATERAL APLASIA OF CN263350 06 Mar 2020 Disease Vascular anomaly MONDO CN227568 MONDO:0019063 17 Apr 2020 Disease Vascular bone neoplasm MONDO C1336946 MONDO:0024499 17 Apr 2020 Disease Vascular brain injury MONDO MONDO:0005621 17 Apr 2020 Disease Vascular calcification Human Phenotype Ontology C0342649 HP:0004934 16 Feb 2016 Finding Vascular cancer MONDO MONDO:0002095 17 Apr 2020 Disease Vascular dementia MONDO C0011269 MONDO:0004648 17 Apr 2020 Disease Vascular dementia, susceptibility to NCBI curation 16 Feb 2016 Disease Vascular disorder NCBI curation C0042373 16 Feb 2016 Finding Vascular disorder of penis MONDO C0156307 MONDO:0022293 17 Apr 2020 Disease Vascular disorder: absent NCBI curation CN184660 16 Feb 2016 Finding Vascular ectasia MONDO C0002959 MONDO:0021658 17 Apr 2020 Disease Vascular ectasia of gastric antrum 16 Feb 2016 Disease Vascular helix of umbilical cord NCBI curation C1860520 192300 16 Feb 2016 Disease Vascular hemostatic disease MONDO C0600502 MONDO:0003159 17 Apr 2020 Disease Vascular insufficiency disorder MONDO MONDO:0020674 17 Apr 2020 Disease Vascular malformation MONDO C0158570 MONDO:0024291 17 Apr 2020 Disease Vascular malformation of the lip Human Phenotype Ontology C4531090 HP:0031486 04 Apr 2018 Finding Vascular malformation, primary intraosseous NCBI curation C1847197 606893 16 Feb 2016 Disease Vascular malposition 16 Feb 2016 Disease Vascular myelopathy MONDO C0154685 MONDO:0002552 17 Apr 2020 Disease Vascular neoplasm Human Phenotype Ontology C0282607 HP:0100742 16 Feb 2016 Finding Vascular occlusion disorder MONDO MONDO:0020672 17 Apr 2020 Disease Vascular remnant arising from the disc Human Phenotype Ontology C4024160 HP:0009922 02 Apr 2017 Finding Vascular ring Human Phenotype Ontology C0221214 HP:0010775 16 Feb 2016 Finding Vascular skin abnormality Human Phenotype Ontology C0162819 HP:0011276 16 Feb 2016 Finding Vascular surgery 25 Oct 2017 Finding Vascular Surgical Procedures NCBI curation C0042381 16 Feb 2016 Finding Vascular tortuosity Human Phenotype Ontology C2673776 HP:0004948 16 Feb 2016 Finding Vascular tumor with associated anomalies MONDO CN242155 MONDO:0018718 17 Apr 2020 Disease Vascular Tumors Including Pyogenic Granuloma 12 Jul 2018 Disease Vasculitis Human Phenotype Ontology C0042384 HP:0002633 16 Feb 2016 Finding Vasculitis in the skin Human Phenotype Ontology C0262988 HP:0200029 16 Feb 2016 Finding Vasculitis, lymphocytic, cutaneous small vessel NCBI curation C1853293 609817 16 Feb 2016 Disease Vasculitis, lymphocytic, nodular MONDO C1860519 MONDO:0008640 192310 22 Apr 2020 Disease Vasculogenic impotence MONDO C0243000 MONDO:0007013 17 Apr 2020 Disease Vasomotor rhinitis MONDO C0035460 MONDO:0006004 17 Apr 2020 Disease Vasovagal syncope Human Phenotype Ontology C0042420 HP:0012668 16 Feb 2016 Finding Vasquez Hurst Sotos syndrome NCBI curation C2931231 16 Feb 2016 Disease VATER association NCBI curation C4225671 192350 16 Feb 2016 Disease Vater association with hydrocephalus NCBI curation 16 Feb 2016 Disease Vater association with macrocephaly and ventriculomegaly NCBI curation C2749240 16 Feb 2016 Disease Vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency NCBI curation C1842082 608406 16 Feb 2016 Disease VATER/VACTERL association with CNS malformations CN238521 30 Sep 2016 Disease VCP-Related Disorders 23 May 2019 Disease VCP-related multisystem proteinopathy 21 May 2020 Disease Vdac deficiency NCBI curation 16 Feb 2016 Disease Vegetative auras Human Phenotype Ontology C4021200 HP:0011164 16 Feb 2016 Finding Vegetative state Human Phenotype Ontology C0917808 HP:0031358 04 Apr 2018 Finding VEGF Inhibitors response 04 May 2018 Pharmacological response Vein disease MONDO C0235522 MONDO:0004634 17 Apr 2020 Disease Vein of Galen aneurysm 16 Feb 2016 Disease Vein of Galen aneurysmal malformation Human Phenotype Ontology C0431420 HP:0030713 02 Apr 2017 Finding Veins, pattern of, on anterior thorax NCBI curation C1860490 192400 16 Feb 2016 Disease Vel blood group system NCBI curation C2745907 615264 16 Feb 2016 Blood group Vel-null NCBI curation CN170852 16 Feb 2016 Blood group Velamentous cord insertion Human Phenotype Ontology C0266789 HP:0030659 02 Apr 2017 Finding Velo-facial-skeletal syndrome MONDO C1833380 MONDO:0010925 600736 17 Apr 2020 Disease Vemurafenib response NCBI curation CN239577 23 Dec 2016 Pharmacological response Vemurafenib-Cobimetinib Response 29 Mar 2020 Pharmacological response Venencie Powell Gordon Winkelmann syndrome 16 Feb 2016 Disease Venereal tumors, veterinary MONDO C0042465 MONDO:0025478 17 Apr 2020 Disease Venezuelan hemorrhagic fever MONDO C0042470 MONDO:0017876 04 Jun 2020 Infectious disease Venlafaxine response NCBI curation CN078028 16 Feb 2016 Pharmacological response venlafaxine response - Efficacy PharmGKB CN236587 1183617724 18 May 2016 Pharmacological response Venous hemangioma MONDO C0334532 MONDO:0003083 17 Apr 2020 Disease Venous insufficiency Human Phenotype Ontology C0042485 HP:0005293 16 Feb 2016 Finding Venous malformation Human Phenotype Ontology C2937220 HP:0012721 16 Feb 2016 Finding Venous malformation of the lip Human Phenotype Ontology C4531087 HP:0031489 04 Apr 2018 Finding Venous occlusion Human Phenotype Ontology C0948441 HP:0025322 02 Apr 2017 Finding Venous stenosis Human Phenotype Ontology C0340753 HP:0025491 04 Apr 2018 Finding Venous thoracic outlet syndrome MONDO C1956396 MONDO:0018165 17 Apr 2020 Disease Venous thromboembolism NCBI curation C1861172 16 Feb 2016 Disease Venous thromboembolism, susceptibility to NCBI curation C1858965 16 Feb 2016 Disease Venous thrombosis Human Phenotype Ontology C3160733 HP:0004936 188050 16 Feb 2016 Finding Venous thrombosis, protection against NCBI curation C2751120 16 Feb 2016 Disease Venous thrombosis, susceptibility to NCBI curation C4016042 16 Feb 2016 Disease Venous varicosities of celiac and mesenteric vessels Human Phenotype Ontology C1857692 HP:0002626 16 Feb 2016 Finding Ventilation pneumonitis MONDO C0155891 MONDO:0001255 17 Apr 2020 Disease Ventilator dependence with inability to wean Human Phenotype Ontology C4025097 HP:0005946 16 Feb 2016 Finding ventilator dependent 20 Jun 2019 Finding Ventouse delivery Human Phenotype Ontology C1456852 HP:0011412 16 Feb 2016 Finding Ventral hernia Human Phenotype Ontology C0019326 HP:0002933 16 Feb 2016 Finding Ventral septal defect C3150353 16 Feb 2016 Finding Ventral shortening of foreskin Human Phenotype Ontology C4022905 HP:0012435 16 Feb 2016 Finding Ventricolomegaly 23 Jan 2020 Finding Ventricular arrhythmia Human Phenotype Ontology C0085612 HP:0004308 16 Feb 2016 Finding Ventricular escape rhythm Human Phenotype Ontology C0232216 HP:0005155 04 Apr 2018 Finding Ventricular extrasystoles Human Phenotype Ontology C0151636 HP:0006682 16 Feb 2016 Finding Ventricular extrasystoles perodactyly Robin sequence 16 Feb 2016 Disease Ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome MONDO C1860471 MONDO:0008645 192445 17 Apr 2020 Disease Ventricular familial preexcitation syndrome 16 Feb 2016 Disease Ventricular fibrillation Human Phenotype Ontology C0042510 HP:0001663 16 Feb 2016 Disease Ventricular fibrillation during myocardial infarction, susceptibility to NCBI curation C4017668 16 Feb 2016 Disease Ventricular fibrillation, idiopathic 16 Feb 2016 Disease Ventricular fibrillation, paroxysmal familial, 2 NCBI curation C2751829 612956 16 Feb 2016 Disease Ventricular flutter Human Phenotype Ontology C0152173 HP:0011841 16 Feb 2016 Finding Ventricular hypertrophy Human Phenotype Ontology C0340279 HP:0001714 16 Feb 2016 Finding Ventricular preexcitation Human Phenotype Ontology C0559106 HP:0004309 16 Feb 2016 Finding Ventricular preexcitation with multiple accessory pathways Human Phenotype Ontology C4025004 HP:0006684 16 Feb 2016 Finding Ventricular septal aneurysm Human Phenotype Ontology C0344954 HP:0030957 04 Apr 2018 Finding Ventricular septal defect OMIM phenotypic series C0018818 PS614429 16 Feb 2016 Disease Ventricular septal defect Human Phenotype Ontology C0018818 HP:0001629 16 Feb 2016 Disease Ventricular septal defect 1 NCBI curation C3280777 614429 16 Feb 2016 Disease Ventricular septal defect 2 NCBI curation C3280783 614431 16 Feb 2016 Disease Ventricular septal defect 3 NCBI curation C3280785 614432 16 Feb 2016 Disease Ventricular septal defect MedGen UID:42366 22 Jun 2020 Finding Ventricular septal defects 16 Feb 2016 Disease Ventricular tachycardia Human Phenotype Ontology C0042514 HP:0004756 16 Feb 2016 Disease Ventricular tachycardia, catecholaminergic polymorphic, 2 NCBI curation C2677794 611938 16 Feb 2016 Disease Ventricular tachycardia, catecholaminergic polymorphic, 3 NCBI curation C3151463 614021 16 Feb 2016 Disease Ventricular tachycardia, catecholaminergic polymorphic, 4 NCBI curation C3554047 614916 16 Feb 2016 Disease Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness NCBI curation C3809536 615441 16 Feb 2016 Disease VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 6 NCBI curation CN263316 28 Feb 2020 Disease Ventricular tachycardia, somatic NCBI curation C4016143 16 Feb 2016 Disease Ventriculo-arterial discordance, isolated 16 Feb 2016 Disease Ventriculomegaly Human Phenotype Ontology C3278923 HP:0002119 16 Feb 2016 Finding Ventriculomegaly with cystic kidney disease NCBI curation C1857423 219730 16 Feb 2016 Disease Ventriculomegaly with defects of the radius and kidney NCBI curation C1865780 602200 16 Feb 2016 Disease Ventriculomeglay CN235176 16 Feb 2016 Finding Ventruto Digirolamo Festa syndrome 16 Feb 2016 Disease Venular insufficiency, systemic NCBI curation C1860465 192700 16 Feb 2016 Disease Verapamil response NCBI curation CN226436 16 Feb 2016 Pharmacological response Verbal auditory agnosia MONDO MONDO:0000684 17 Apr 2020 Disease Verheij syndrome NCBI curation C3810023 615583 16 Feb 2016 Disease Verloes Gillerot Fryns syndrome 16 Feb 2016 Disease Verloove Vanhorick-Brubakk syndrome MONDO C1859082 MONDO:0008991 215850 22 Apr 2020 Disease vermian hypoplasia 18 Jan 2019 Finding Vernal conjunctivitis C0009773 16 Feb 2016 Disease Vernal keratitis 16 Feb 2016 Disease Vernal keratoconjunctivitis C0022577 16 Feb 2016 Disease Verruca plana Human Phenotype Ontology C0276262 HP:0550004 04 Apr 2018 Finding Verrucae Human Phenotype Ontology C3665596 HP:0200043 16 Feb 2016 Infectious disease Verruciform xanthoma Human Phenotype Ontology C0346054 HP:0031517 04 Apr 2018 Finding Verrucous carcinoma MONDO C0206706 MONDO:0006006 17 Apr 2020 Disease Verrucous carcinoma of oral cavity MONDO C0280306 MONDO:0021538 17 Apr 2020 Disease Verrucous cell carcinoma of the tongue Human Phenotype Ontology C4072937 HP:0030414 16 Feb 2016 Finding Verrucous hemangioma MONDO C0334540 MONDO:0018734 07 Jun 2020 Disease Verrucous papilloma MONDO C0334243 MONDO:0002535 17 Apr 2020 Disease Verrucous papule Human Phenotype Ontology C4022877 HP:0012500 16 Feb 2016 Finding Versive seizures Human Phenotype Ontology C0422846 HP:0011175 16 Feb 2016 Finding vertebral anomalies 18 Jan 2019 Finding VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION OMIM C4748741 618223 618223 08 Dec 2018 Disease Vertebral arch anomaly Human Phenotype Ontology C1835764 HP:0008438 16 Feb 2016 Finding Vertebral artery calcification Human Phenotype Ontology C4531210 HP:0031308 04 Apr 2018 Finding Vertebral artery hypoplasia Human Phenotype Ontology C1868737 HP:0030322 16 Feb 2016 Finding Vertebral artery insufficiency MONDO C0042560 MONDO:0001631 17 Apr 2020 Disease Vertebral artery occlusion MONDO C0265104 MONDO:0001258 17 Apr 2020 Disease Vertebral body fusion overgrowth 16 Feb 2016 Disease Vertebral body sclerosis Human Phenotype Ontology C1842154 HP:0100861 16 Feb 2016 Finding Vertebral clefting Human Phenotype Ontology C1855828 HP:0008428 16 Feb 2016 Finding Vertebral column disease MONDO C0037933 MONDO:0000812 17 Apr 2020 Disease Vertebral compression fractures Human Phenotype Ontology C0262431 HP:0002953 16 Feb 2016 Finding Vertebral disease MONDO C2316319 MONDO:0045002 17 Apr 2020 Disease Vertebral fusion Human Phenotype Ontology C3278509 HP:0002948 16 Feb 2016 Finding Vertebral hyperostosis Human Phenotype Ontology C1834057 HP:0008442 16 Feb 2016 Finding Vertebral hypoplasia Human Phenotype Ontology C0345394 HP:0008417 16 Feb 2016 Finding Vertebral hypoplasia with lumbar kyphosis NCBI curation C1860463 192900 16 Feb 2016 Disease Vertebral joint disease MONDO MONDO:0037847 17 Apr 2020 Disease Vertebral segmentation defect Human Phenotype Ontology C0432163 HP:0003422 16 Feb 2016 Finding Vertebral wedging Human Phenotype Ontology C1695776 HP:0008422 16 Feb 2016 Finding VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 OMIM C4540004 617660 617660 23 Sep 2017 Disease VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 OMIM C4540014 617661 617661 23 Sep 2017 Disease VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3 OMIM CN272929 618845 618845 12 Apr 2020 Disease Vertebrobasilar dolichoectasia Human Phenotype Ontology C0751572 HP:0020038 04 Apr 2018 Finding Vertebrobasilar insufficiency MONDO C0042568 MONDO:0001613 17 Apr 2020 Disease Vertical clivus Human Phenotype Ontology C1844702 HP:0010559 16 Feb 2016 Finding Vertical forehead creases Human Phenotype Ontology C4023456 HP:0011221 16 Feb 2016 Finding Vertical nystagmus Human Phenotype Ontology C0271386 HP:0010544 16 Feb 2016 Finding Vertical orbital dystopia Human Phenotype Ontology C0431460 HP:0030867 02 Apr 2017 Finding Vertical supranuclear gaze palsy Human Phenotype Ontology C1843369 HP:0000511 16 Feb 2016 Finding Vertical talus, congenital C0240912 192950 16 Feb 2016 Disease Vertigo Human Phenotype Ontology C0042571 HP:0002321 16 Feb 2016 Finding Vertigo, benign recurrent, 1 NCBI curation 16 Feb 2016 Disease Vertigo, benign recurrent, 2 NCBI curation C2751289 613106 16 Feb 2016 Disease VERVERI-BRADY SYNDROME OMIM C4693824 617982 617982 17 May 2018 Disease Very early onset inflammatory bowel disease 11 Jan 2019 Disease Very frequent Human Phenotype Ontology C4477029 HP:0040281 02 Apr 2017 Finding Very long chain acyl-CoA dehydrogenase deficiency NCBI curation C3887523 201475 16 Feb 2016 Disease Very long chain fatty acid accumulation Human Phenotype Ontology C3279397 HP:0008167 16 Feb 2016 Finding Very rare Human Phenotype Ontology C1855575 HP:0040284 02 Apr 2017 Finding Very small prolabium at birth CN236315 13 Apr 2016 Finding Vesicoallantoic abdominal wall defect Human Phenotype Ontology C4280796 HP:0030733 02 Apr 2017 Finding Vesicoureteral reflux OMIM phenotypic series C0042580 PS193000 16 Feb 2016 Disease Vesicoureteral reflux Human Phenotype Ontology C0042580 HP:0000076 16 Feb 2016 Disease Vesicoureteral reflux 1 NCBI curation C4551858 193000 16 Feb 2016 Disease Vesicoureteral reflux 2 NCBI curation C1970483 610878 16 Feb 2016 Disease Vesicoureteral reflux 3 NCBI curation C3150927 613674 16 Feb 2016 Disease Vesicoureteral reflux 4 NCBI curation C3280439 614317 16 Feb 2016 Disease Vesicoureteral reflux 5 NCBI curation C3280440 614318 16 Feb 2016 Disease Vesicoureteral reflux 6 NCBI curation C3280441 614319 16 Feb 2016 Disease Vesicoureteral reflux 7 NCBI curation C3809337 615390 16 Feb 2016 Disease Vesicoureteral reflux 8 NCBI curation C4014831 615963 16 Feb 2016 Disease Vesicoureteral reflux, X-linked NCBI curation C1839114 314550 16 Feb 2016 Disease Vesicovaginal fistula Human Phenotype Ontology C0042582 HP:0001586 16 Feb 2016 Finding Vesicular exanthema of swine MONDO C0042584 MONDO:0025138 04 Jun 2020 Infectious disease Vesicular stomatitis MONDO C0266999 MONDO:0025028 04 Jun 2020 Infectious disease Vesiculitis MONDO C0042588 MONDO:0004767 17 Apr 2020 Disease Vesiculobullous skin disease MONDO C0037275 MONDO:0006617 17 Apr 2020 Disease Vestibular areflexia Human Phenotype Ontology C4015052 HP:0008568 16 Feb 2016 Finding Vestibular disease MONDO C0042594 MONDO:0002643 17 Apr 2020 Disease Vestibular dysfunction Human Phenotype Ontology C1843865 HP:0001751 16 Feb 2016 Finding Vestibular gland benign neoplasm MONDO MONDO:0000626 17 Apr 2020 Disease Vestibular hypofunction Human Phenotype Ontology C1848606 HP:0001756 16 Feb 2016 Finding Vestibular micropapillomatosis MONDO C1519982 MONDO:0003929 17 Apr 2020 Disease Vestibular neuronitis MONDO C0751908 MONDO:0006008 17 Apr 2020 Disease Vestibular nystagmus Human Phenotype Ontology C0155379 HP:0010542 16 Feb 2016 Finding Vestibular papilloma MONDO C1336982 MONDO:0002194 17 Apr 2020 Disease Vestibular saccular degeneration Human Phenotype Ontology C4476903 HP:0031000 04 Apr 2018 Finding Vestibular Schwannoma Human Phenotype Ontology C0027859 HP:0009588 19 Mar 2018 Disease Vestibule of mouth cancer MONDO C0153374 MONDO:0004727 17 Apr 2020 Disease Vestibulocochlear dysfunction, progressive C2931176 193005 16 Feb 2016 Disease Vestibulocochlear nerve disease MONDO C0001163 MONDO:0001563 17 Apr 2020 Disease Vestibulocochlear nerve neoplasm MONDO C0346330 MONDO:0021221 17 Apr 2020 Disease Vibratory angioedema C0473546 16 Feb 2016 Disease Vibratory urticaria NCBI curation C0157743 125630 24 Aug 2016 Disease Vibrio infectious disease MONDO C0042636 MONDO:0007014 04 Jun 2020 Infectious disease Vibrio vulnificus infection 16 Feb 2016 Disease Vibrio vulnificus infectious disease MONDO C1274377 MONDO:0043297 04 Jun 2020 Infectious disease Vici syndrome NCBI curation C1855772 242840 06 Apr 2018 Disease Viljoen Kallis Voges syndrome 16 Feb 2016 Disease Viljoen Smart syndrome 16 Feb 2016 Disease Viljoen Winship syndrome 16 Feb 2016 Disease Villoglandular endometrial endometrioid adenocarcinoma MONDO C1336962 MONDO:0003991 17 Apr 2020 Disease Villous adenocarcinoma MONDO C0334306 MONDO:0003204 17 Apr 2020 Disease Villous adenoma MONDO C0206674 MONDO:0000502 17 Apr 2020 Disease Villous adenoma of colon MONDO C0149862 MONDO:0021271 17 Apr 2020 Disease Villous atrophy Human Phenotype Ontology C0554101 HP:0011473 16 Feb 2016 Finding Villous hypertrophy of choroid plexus Human Phenotype Ontology C4021089 HP:0012422 16 Feb 2016 Finding Vincristine response NCBI curation CN261158 26 Jul 2019 Pharmacological response vincristine response - Toxicity/ADR PharmGKB CN262133 1444703401PA451879 06 Jul 2018 Pharmacological response Violent behavior Human Phenotype Ontology C0424323 HP:0008760 16 Feb 2016 Finding Violet lip discoloration Human Phenotype Ontology C4476598 HP:0025119 02 Apr 2017 Finding VIPoma C0011993 16 Feb 2016 Disease Viral conjunctivitis MONDO C0009774 MONDO:0043541 04 Jun 2020 Infectious disease Viral dilated cardiomyopathy MONDO C0264797 MONDO:0005200 17 Apr 2020 Disease viral disease C0042769 18 Jan 2019 Finding Viral esophagitis MONDO C0341110 MONDO:0003846 04 Jun 2020 Infectious disease Viral exanthem MONDO C0153062 MONDO:0006619 17 Apr 2020 Disease Viral eye infection MONDO C0015407 MONDO:0020950 04 Jun 2020 Infectious disease Viral gastritis MONDO C0563238 MONDO:0002270 04 Jun 2020 Infectious disease Viral hemorrhagic fever NCBI curation C0019104 16 Feb 2016 Infectious disease Viral hepatitis Human Phenotype Ontology C0042721 HP:0006562 16 Feb 2016 Infectious disease Viral infection of central nervous system MONDO C0348165 MONDO:0024318 04 Jun 2020 Infectious disease Viral infection, susceptibility to NCBI curation 16 Feb 2016 Disease Viral infection-induced rhabdomyolysis Human Phenotype Ontology C4025595 HP:0003558 16 Feb 2016 Finding Viral infectious disease MONDO CN281750 MONDO:0005108 04 Jun 2020 Infectious disease Viral labyrinthitis MONDO C0155508 MONDO:0001507 04 Jun 2020 Infectious disease Viral laryngitis MONDO C0853195 MONDO:0002646 04 Jun 2020 Infectious disease Viral meningitis MONDO C0025297 MONDO:0007015 04 Jun 2020 Infectious disease Viral myocarditis MONDO C0276138 MONDO:0023161 04 Jun 2020 Infectious disease Viral myositis MONDO C0150005 MONDO:0016126 04 Jun 2020 Infectious disease Viral pericarditis MONDO C0276139 MONDO:0023164 04 Jun 2020 Infectious disease Viral pneumonia MONDO C0032310 MONDO:0006012 04 Jun 2020 Infectious disease Viral respiratory tract infection MONDO C0877203 MONDO:0024352 04 Jun 2020 Infectious disease Viral sexually transmitted disease MONDO C0036918 MONDO:0021682 04 Jun 2020 Infectious disease Viral syndrome C0042740 18 Jan 2019 Finding Virilization NCBI curation C0042755 16 Feb 2016 Disease Virilizing ovarian tumor 16 Feb 2016 Disease Virus associated hemophagocytic syndrome 16 Feb 2016 Disease Virus associated tumor MONDO CN203003 MONDO:0017341 17 Apr 2020 Disease Virus rd114 RNA complementarity NCBI curation C1860423 193070 24 Aug 2016 Disease Virus-associated trichodysplasia spinulosa MONDO C3267126 MONDO:0016455 04 Jun 2020 Infectious disease Virus-induced diabetes NCBI curation CN258239 29 Sep 2017 Disease Visceral angiomatosis Human Phenotype Ontology C4021977 HP:0100761 16 Feb 2016 Finding Visceral calciphylaxis MONDO C4749793 MONDO:0017217 17 Apr 2020 Disease Visceral heterotaxy 5, autosomal NCBI curation C3495537 270100 16 Feb 2016 Disease Visceral malformation of the liver, biliary tract, pancreas or spleen MONDO CN227731 MONDO:0020020 17 Apr 2020 Disease Visceral myopathy NCBI curation C0042781 155310 16 Feb 2016 Disease Visceral myopathy familial with external ophthalmoplegia C1848586 277320 16 Feb 2016 Disease Visceral neuropathy, familial, autosomal dominant NCBI curation C1864996 609629 16 Feb 2016 Disease Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome MONDO CN205657 MONDO:0019133 17 Apr 2020 Disease Visceral steatosis, congenital MONDO C0341447 MONDO:0009220 228100 22 Apr 2020 Disease Viscero-atrial heterotaxia 16 Feb 2016 Disease Visceromegaly Human Phenotype Ontology C0042782 HP:0003271 16 Feb 2016 Finding Vision disorder MONDO C0042790 MONDO:0021084 17 Apr 2020 Disease Vision phenotype CN230748 16 Feb 2016 Finding vision problems C3665347 29 Mar 2016 Finding Visna disease MONDO C0080323 MONDO:0006013 04 Jun 2020 Infectious disease Visual acuity light perception with projection Human Phenotype Ontology C4073025 HP:0030551 16 Feb 2016 Finding Visual acuity light perception without projection Human Phenotype Ontology C4073026 HP:0030552 16 Feb 2016 Finding Visual acuity no light perception Human Phenotype Ontology C0442774 HP:0030553 16 Feb 2016 Finding Visual acuity test abnormality Human Phenotype Ontology C4073006 HP:0030532 16 Feb 2016 Finding Visual agnosia Human Phenotype Ontology C0234502 HP:0030222 16 Feb 2016 Finding Visual agnosia (disease) MONDO MONDO:0000685 17 Apr 2020 Disease Visual auras Human Phenotype Ontology C1850765 HP:0011165 16 Feb 2016 Finding Visual concern since 6 months CN234655 16 Feb 2016 Finding Visual cortex disease MONDO C0234398 MONDO:0003584 17 Apr 2020 Disease visual disturbance C0547030 18 Jan 2019 Finding Visual epilepsy MONDO C0270824 MONDO:0001386 17 Apr 2020 Disease Visual field defect Human Phenotype Ontology C3887875 HP:0001123 16 Feb 2016 Finding Visual fixation instability Human Phenotype Ontology C4476760 HP:0025405 04 Apr 2018 Finding Visual gaze preference Human Phenotype Ontology C4476823 HP:0025518 04 Apr 2018 Finding Visual hallucinations Human Phenotype Ontology C0233763 HP:0002367 16 Feb 2016 Finding Visual impairment Human Phenotype Ontology C0042798 HP:0000505 16 Feb 2016 Finding VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI OMIM C4748978 618283 618283 18 Jan 2019 Disease Visual loss Human Phenotype Ontology C3665386 HP:0000572 16 Feb 2016 Finding Visual pathway and hypothalamic glioma, childhood 16 Feb 2016 Disease Visual pathway disease MONDO C0155287 MONDO:0001834 17 Apr 2020 Disease Visual snow syndrome MONDO C4324662 MONDO:0018486 17 Apr 2020 Disease Vitamin A deficiency Human Phenotype Ontology C0042842 HP:0004905 16 Feb 2016 Finding Vitamin A embryopathy 16 Feb 2016 Disease Vitamin B deficiency MONDO C0042850 MONDO:0042976 17 Apr 2020 Disease Vitamin B1 deficiency Human Phenotype Ontology C0039841 HP:0100503 16 Feb 2016 Finding Vitamin b12 plasma level quantitative trait locus 1 NCBI curation C2674252 612542 16 Feb 2016 Disease Vitamin B12- and folate-independent constitutional megaloblastic anemia MONDO CN229271 MONDO:0020112 17 Apr 2020 Disease Vitamin B12-responsive methylmalonic acidemia MONDO C0342720 MONDO:0017214 17 Apr 2020 Disease Vitamin B12-responsive methylmalonic acidemia type cblA MONDO C1855109 MONDO:0009613 251100 17 Apr 2020 Disease Vitamin B12-responsive methylmalonic acidemia type cblB MONDO C1855102 MONDO:0009614 251110 17 Apr 2020 Disease Vitamin B12-unresponsive methylmalonic acidemia type mut- MONDO C0342719 MONDO:0019267 17 Apr 2020 Disease Vitamin B12-unresponsive methylmalonic acidemia type mut0 MONDO C0342718 MONDO:0017360 17 Apr 2020 Disease Vitamin B3 deficiency Human Phenotype Ontology C4317126 HP:0100497 16 Feb 2016 Finding Vitamin B5 deficiency Human Phenotype Ontology C4022038 HP:0100505 16 Feb 2016 Finding Vitamin B6 deficiency Human Phenotype Ontology C0936215 HP:0008326 16 Feb 2016 Finding Vitamin b6 plasma level quantitative trait locus 1 NCBI curation C2751828 612957 16 Feb 2016 Disease Vitamin B8 deficiency Human Phenotype Ontology C4022037 HP:0100506 16 Feb 2016 Finding Vitamin C deficiency Human Phenotype Ontology C0003969 HP:0100510 16 Feb 2016 Finding Vitamin D deficiency Human Phenotype Ontology C0042870 HP:0100512 16 Feb 2016 Finding Vitamin d hydroxylation-deficient rickets, type 1b NCBI curation C1838657 600081 16 Feb 2016 Disease Vitamin D-Dependent Rickets C0221468 02 Dec 2016 Disease Vitamin D-dependent rickets type 1A NCBI curation CN283242 264700 29 Jun 2020 Disease Vitamin D-dependent rickets, type 1 C0268689 16 Feb 2016 Disease Vitamin D-dependent rickets, type 2 C0342646 277440 16 Feb 2016 Disease Vitamin d-dependent rickets, type 2b, with normal vitamin d receptor NCBI curation C2748783 600785 16 Feb 2016 Disease Vitamin deficiency disorder MONDO MONDO:0024298 17 Apr 2020 Disease Vitamin E deficiency Human Phenotype Ontology C0042875 HP:0100513 16 Feb 2016 Finding Vitamin K deficiency Human Phenotype Ontology C5139061 HP:0011892 16 Feb 2016 Finding Vitamin K deficiency hemorrhagic disease MONDO MONDO:0001244 17 Apr 2020 Disease Vitamin K-antagonist embryofetopathy MONDO C0265374 MONDO:0016010 17 Apr 2020 Disease Vitamin K-Dependent Clotting Factors CN239236 02 Dec 2016 Disease Vitamin K-dependent clotting factors, combined deficiency of, 1 NCBI curation C1848534 277450 30 Jan 2020 Disease Vitamin K-dependent clotting factors, combined deficiency of, 2 NCBI curation C1843832 607473 30 Jan 2020 Disease Vitelliform macular dystrophy NCBI curation C0339510 16 Feb 2016 Disease Vitelliform macular dystrophy 1 MONDO C4551953 MONDO:0007933 153840 22 Apr 2020 Disease Vitelliform macular dystrophy type 2 NCBI curation C2745945 153700 06 Nov 2016 Disease Vitelliform-like macular lesions Human Phenotype Ontology C4024817 HP:0007677 16 Feb 2016 Finding Vitelliform-like retinal lesions Human Phenotype Ontology C4073108 HP:0030643 16 Feb 2016 Finding Vitiligo Human Phenotype Ontology C3277701 HP:0001045 193200 16 Feb 2016 Disease Vitiligo mental retardation facial dysmorphism uremia 16 Feb 2016 Disease Vitiligo, progressive, with mental retardation and urethral duplication NCBI curation C1848532 277465 16 Feb 2016 Disease Vitiligo-associated multiple autoimmune disease susceptibility 1 NCBI curation C1847835 606579 16 Feb 2016 Disease Vitreomacular adhesion Human Phenotype Ontology C2748203 HP:0031150 04 Apr 2018 Finding Vitreomacular traction Human Phenotype Ontology C3161192 HP:0031151 04 Apr 2018 Finding Vitreoretinal degeneration Human Phenotype Ontology C0344290 HP:0000655 16 Feb 2016 Disease Vitreoretinal dystrophy MONDO C0154863 MONDO:0001923 17 Apr 2020 Disease Vitreoretinochoroidopathy NCBI curation C3888099 193220 06 Nov 2016 Disease Vitreoretinopathy Human Phenotype Ontology C1850109 HP:0007773 16 Feb 2016 Finding Vitreoretinopathy with phalangeal epiphyseal dysplasia NCBI curation C1852989 16 Feb 2016 Disease Vitreoretinopathy, neovascular inflammatory NCBI curation C0242852 193235 16 Feb 2016 Disease Vitreous abscess MONDO C0042904 MONDO:0004862 04 Jun 2020 Infectious disease Vitreous body disorder MONDO C0155365 MONDO:0044137 17 Apr 2020 Disease Vitreous condensation CN232379 16 Feb 2016 Finding Vitreous disease MONDO MONDO:0004860 17 Apr 2020 Disease Vitreous floaters Human Phenotype Ontology C0016242 HP:0100832 16 Feb 2016 Finding Vitreous haze Human Phenotype Ontology C4073113 HP:0030652 02 Apr 2017 Finding Vitreous hemorrhage Human Phenotype Ontology C0042909 HP:0007902 16 Feb 2016 Finding Vitreous inflammatory cells Human Phenotype Ontology C4073117 HP:0030662 02 Apr 2017 Finding Vitreous snowballs Human Phenotype Ontology C1563272 HP:0030661 02 Apr 2017 Finding Vitreous strands Human Phenotype Ontology C0271408 HP:0030832 02 Apr 2017 Finding Vitreous syneresis MONDO C0155366 MONDO:0001377 17 Apr 2020 Disease Vitritis Human Phenotype Ontology C0235812 HP:0011531 02 Apr 2017 Finding Vivid hallucinations Human Phenotype Ontology C4024978 HP:0006803 16 Feb 2016 Finding Vocal cord paralysis Human Phenotype Ontology C0042928 HP:0001605 16 Feb 2016 Finding Vocal cord paralysis (caused by tumor impingement) C1854345 16 Feb 2016 Finding Vocal cord paresis Human Phenotype Ontology C0751576 HP:0001604 16 Feb 2016 Finding Vocal tremor Human Phenotype Ontology C4022889 HP:0012477 16 Feb 2016 Finding Vogt-Koyanagi-Harada disease MONDO C0042170 MONDO:0018092 17 Apr 2020 Disease Vogt-Koyanagi-Harada syndrome 16 Feb 2016 Disease Vohwinkel syndrome, variant form NCBI curation C1858805 604117 16 Feb 2016 Disease Voice disorders MONDO MONDO:0043862 17 Apr 2020 Disease voice had become tremulous with a slow and nasal character 13 Feb 2020 Finding voice while crying was very different 13 Feb 2020 Finding volatile anesthetics response - Toxicity/ADR PharmGKB 1449157773PA166131630 28 Jun 2019 Pharmacological response Volkmann contracture MONDO C0042951 MONDO:0003528 17 Apr 2020 Disease Volvulus Human Phenotype Ontology C0042961 HP:0002580 16 Feb 2016 Finding Volvulus of midgut NCBI curation C0221210 193250 16 Feb 2016 Disease Vomiting Human Phenotype Ontology C0042963 HP:0002013 16 Feb 2016 Finding Vomiting,recurrent 23 Jan 2020 Finding Von Hippel anomaly MONDO MONDO:0020353 17 Apr 2020 Disease Von Hippel-Lindau CN169367 16 Feb 2016 Disease Von Hippel-Lindau syndrome C0019562 193300 16 Feb 2016 Disease VON HIPPEL-LINDAU SYNDROME, MODIFIER OF 16 Feb 2016 Disease Von Hippel-Lindau syndrome, modifiers of NCBI curation 16 Feb 2016 Disease Von Voss-Cherstvoy syndrome MONDO C1857226 MONDO:0009121 223340 22 Apr 2020 Disease Von Willebrand disease (hereditary or acquired) MONDO MONDO:0024574 17 Apr 2020 Disease von Willebrand disease type 1 NCBI curation C1264039 193400 16 Feb 2016 Disease von Willebrand disease type 2 NCBI curation C1264040 613554 16 Feb 2016 Disease von Willebrand disease type 2M NCBI curation C1282974 16 Feb 2016 Disease von Willebrand disease type 2N NCBI curation C1282975 16 Feb 2016 Disease von Willebrand disease type 3 NCBI curation C1264041 16 Feb 2016 Disease Von Willebrand disease, recessive form C1848525 277480 16 Feb 2016 Disease von Willebrand disease, type 1, susceptibility to NCBI curation 16 Feb 2016 Disease von Willebrand disease, type 2a NCBI curation C1282968 16 Feb 2016 Disease von Willebrand disease, type 2b NCBI curation C1282971 16 Feb 2016 Disease von Willebrand disease, X-linked form NCBI curation C1839113 314560 16 Feb 2016 Disease von Willebrand disorder C0042974 16 Feb 2016 Disease VON WILLEBRAND FACTOR POLYMORPHISM 16 Feb 2016 Disease von Willebrand factor Vicenza NCBI curation 16 Feb 2016 Named protein variant von Willebrand's disease 18 Jan 2019 Finding Voriconazole response CN077957 16 Feb 2016 Pharmacological response Vortioxetine Response CN282580 17 Jun 2020 Pharmacological response Voyeurism MONDO C0042979 MONDO:0001135 17 Apr 2020 Disease VRNI 06 Dec 2017 Finding VSX2-related Microphthalmia CN239429 02 Dec 2016 Disease Vulva basal cell carcinoma MONDO C1336977 MONDO:0002955 17 Apr 2020 Disease Vulva cancer MONDO MONDO:0001528 17 Apr 2020 Disease Vulva fibroepithelial polyp MONDO C1336978 MONDO:0006620 17 Apr 2020 Disease Vulva sarcoma MONDO C0238525 MONDO:0005214 17 Apr 2020 Disease Vulva verrucous carcinoma MONDO C1336983 MONDO:0002758 17 Apr 2020 Disease Vulval Paget disease MONDO C1275217 MONDO:0002207 17 Apr 2020 Disease Vulval varicose vein Human Phenotype Ontology C0155796 HP:0100677 16 Feb 2016 Finding Vulval warts C0341850 19 Jul 2018 Finding Vulvar adenocarcinoma Human Phenotype Ontology C1336975 HP:0030420 16 Feb 2016 Finding Vulvar adenocarcinoma of mammary gland type NCBI curation C4288013 05 Sep 2017 Disease Vulvar alveolar soft part sarcoma MONDO C1520069 MONDO:0003391 17 Apr 2020 Disease Vulvar angiokeratoma MONDO C1274281 MONDO:0002192 17 Apr 2020 Disease Vulvar apocrine adenocarcinoma MONDO C2202741 MONDO:0003881 17 Apr 2020 Disease Vulvar basaloid squamous cell carcinoma MONDO C2211850 MONDO:0004090 17 Apr 2020 Disease Vulvar benign neoplasm MONDO C0154003 MONDO:0000643 17 Apr 2020 Disease Vulvar cancer 16 Feb 2016 Disease Vulvar childhood botryoid-type embryonal rhabdomyosarcoma MONDO C1332946 MONDO:0003995 17 Apr 2020 Disease Vulvar clear cell hidradenocarcinoma MONDO C1520076 MONDO:0004283 17 Apr 2020 Disease Vulvar disease MONDO C0042994 MONDO:0002187 17 Apr 2020 Disease Vulvar dystrophy MONDO C0013426 MONDO:0001938 17 Apr 2020 Disease Vulvar eccrine adenocarcinoma MONDO C2202743 MONDO:0003861 17 Apr 2020 Disease Vulvar eccrine porocarcinoma MONDO C1520081 MONDO:0004281 17 Apr 2020 Disease Vulvar glandular neoplasm MONDO C1520082 MONDO:0002198 17 Apr 2020 Disease Vulvar granular cell tumor MONDO C1520083 MONDO:0003253 17 Apr 2020 Disease Vulvar intraepithelial neoplasia MONDO C0346210 MONDO:0005198 17 Apr 2020 Disease Vulvar inverted follicular keratosis MONDO C1520084 MONDO:0006621 17 Apr 2020 Disease Vulvar keratinizing squamous cell carcinoma MONDO C2109334 MONDO:0004199 17 Apr 2020 Disease Vulvar keratoacanthoma-like carcinoma MONDO C1520086 MONDO:0004212 17 Apr 2020 Disease Vulvar leiomyoma MONDO C1520087 MONDO:0003298 17 Apr 2020 Disease Vulvar leiomyosarcoma MONDO C2168304 MONDO:0003372 17 Apr 2020 Disease Vulvar lichen sclerosus MONDO C0022783 MONDO:0006491 17 Apr 2020 Disease Vulvar liposarcoma MONDO C2184082 MONDO:0003599 17 Apr 2020 Disease Vulvar melanoma Human Phenotype Ontology C0241989 HP:0030418 16 Feb 2016 Finding Vulvar neoplasm Human Phenotype Ontology C0042995 HP:0030416 16 Feb 2016 Finding Vulvar neuroendocrine carcinoma MONDO C4288002 MONDO:0056816 17 Apr 2020 Disease Vulvar nodular hidradenoma MONDO C1520091 MONDO:0002188 17 Apr 2020 Disease Vulvar non-keratinizing squamous cell carcinoma MONDO C1520092 MONDO:0004213 17 Apr 2020 Disease Vulvar proximal-type epithelioid sarcoma MONDO C1520093 MONDO:0004243 17 Apr 2020 Disease Vulvar sebaceous carcinoma MONDO C1520094 MONDO:0003636 17 Apr 2020 Disease Vulvar seborrheic keratosis MONDO C1336981 MONDO:0006622 17 Apr 2020 Disease Vulvar squamous neoplasm MONDO C1520097 MONDO:0002195 17 Apr 2020 Disease Vulvar syringoma MONDO C1520099 MONDO:0002190 17 Apr 2020 Disease Vulvar trichoepithelioma MONDO C1520100 MONDO:0002201 17 Apr 2020 Disease Vulvitis MONDO C0042996 MONDO:0007018 17 Apr 2020 Disease Vulvodynia Human Phenotype Ontology C0406670 HP:0030943 02 Apr 2017 Finding Vulvovaginal candidiasis MONDO C0700345 MONDO:0006014 04 Jun 2020 Infectious disease Vulvovaginal gingival syndrome MONDO C3873472 MONDO:0019370 17 Apr 2020 Disease Vulvovaginitis MONDO C0042998 MONDO:0007019 17 Apr 2020 Disease Vulvovaginitis, allergic seminal NCBI curation C1860357 193450 16 Feb 2016 Disease VVS OMIM C1836438 609289 609289 17 Apr 2020 Disease VVS MONDO C1836438 MONDO:0012242 609289 17 Apr 2020 Disease W index over 1.95 31 Dec 2019 Finding Waaler Aarskog syndrome C2931197 16 Feb 2016 Disease Waardenburg syndrome OMIM phenotypic series C3266898 PS193500 01 Jun 2016 Disease Waardenburg syndrome type 1 C1847800 193500 16 Feb 2016 Disease Waardenburg syndrome type 2 C2700265 16 Feb 2016 Disease Waardenburg syndrome type 2A C1860339 193510 16 Feb 2016 Disease Waardenburg syndrome type 2B C1838447 600193 16 Feb 2016 Disease Waardenburg syndrome type 2C NCBI curation C1847722 606662 16 Feb 2016 Disease Waardenburg syndrome type 2D NCBI curation C1837203 608890 16 Feb 2016 Disease Waardenburg syndrome type 2E NCBI curation C2700405 611584 16 Feb 2016 Disease Waardenburg syndrome type 2E, with neurologic involvement NCBI curation CN069053 16 Feb 2016 Disease Waardenburg syndrome type 2E, without neurologic involvement NCBI curation CN069052 16 Feb 2016 Disease Waardenburg syndrome type 4A NCBI curation C1848519 277580 16 Feb 2016 Disease Waardenburg syndrome type 4B NCBI curation C2750457 613265 16 Feb 2016 Disease Waardenburg syndrome type 4C NCBI curation C2750452 613266 16 Feb 2016 Disease Waardenburg syndrome/albinism, digenic CN260015 18 Jun 2019 Disease Waardenburg syndrome/ocular albinism, digenic CN260016 18 Jun 2019 Disease Waddling gait Human Phenotype Ontology C0231712 HP:0002515 16 Feb 2016 Finding Wafer-thin platyspondyly Human Phenotype Ontology C1865124 HP:0008452 16 Feb 2016 Finding Wagner syndrome NCBI curation C0339540 143200 16 Feb 2016 Disease Wahab syndrome NCBI curation C3554611 615170 16 Feb 2016 Disease Walbaum Titran Durieux Crepin syndrome 16 Feb 2016 Disease Waldenstrom macroglobulinemia C1835192 153600 16 Feb 2016 Disease Waldeyer's ring cancer MONDO C0153406 MONDO:0004685 17 Apr 2020 Disease Waldmann disease 16 Feb 2016 Disease Walker Dyson syndrome 16 Feb 2016 Disease Walker-Warburg congenital muscular dystrophy NCBI curation C0265221 09 Nov 2016 Disease Walker-Warburg Syndrome, Fktn-Related C3502477 27 Dec 2019 Disease Wallenberg syndrome 16 Feb 2016 Disease Wallerian degeneration C0043020 16 Feb 2016 Disease Wandering spleen C0272414 16 Feb 2016 Disease WAPL-related disorder 04 May 2018 Disease Warburg micro syndrome OMIM phenotypic series CN158709 PS600118 16 Feb 2016 Disease Warburg micro syndrome 1 NCBI curation C1838625 600118 16 Feb 2016 Disease Warburg micro syndrome 2 NCBI curation C3280214 614225 16 Feb 2016 Disease Warburg micro syndrome 3 NCBI curation C3280203 614222 16 Feb 2016 Disease Warburg micro syndrome 4 NCBI curation C3810265 615663 16 Feb 2016 Disease Warburg-Cinotti syndrome NCBI curation C5193019 618175 24 Feb 2019 Disease Warfarin response NCBI curation C0750384 122700 16 Feb 2016 Pharmacological response warfarin response - Dosage PharmGKB CN236549 655385392 18 May 2016 Pharmacological response warfarin response - Dosage, Toxicity/ADR PharmGKB CN236547 655384720 18 May 2016 Pharmacological response warfarin response - Efficacy PharmGKB CN236588 1447672998 18 May 2016 Pharmacological response warfarin response - Efficacy, Toxicity/ADR PharmGKB 1449269975PA451906 06 Jul 2018 Pharmacological response warfarin response - Other PharmGKB 1449269278PA451906 06 Jul 2018 Pharmacological response warfarin response - Toxicity/ADR PharmGKB CN236624 1447673005 18 May 2016 Pharmacological response Warfarin-induced skin necrosis Human Phenotype Ontology C1867638 HP:0001038 16 Feb 2016 Finding Warm reactive autoantibody positivity Human Phenotype Ontology C4476777 HP:0025440 04 Apr 2018 Finding Warm-reacting-antibody hemolytic anemia 16 Feb 2016 Disease Warman Mulliken Hayward syndrome 16 Feb 2016 Disease Warsaw breakage syndrome NCBI curation C3150658 613398 16 Feb 2016 Disease Warthin tumor MONDO C0001429 MONDO:0006493 17 Apr 2020 Disease Warthin's tumor 16 Feb 2016 Disease Warts, hypogammaglobulinemia, infections, and myelokathexis C0472817 193670 16 Feb 2016 Disease Warty carcinoma of the penis MONDO C1337009 MONDO:0020649 17 Apr 2020 Disease Warty dyskeratoma MONDO C0334063 MONDO:0019077 17 Apr 2020 Disease Water intoxication MONDO C0043049 MONDO:0022007 17 Apr 2020 Disease Water-clear cell adenoma MONDO C0334321 MONDO:0003433 17 Apr 2020 Disease Waterhouse-Friderichsen syndrome NCBI curation C0043068 16 Feb 2016 Disease Waxy casts Human Phenotype Ontology C0370152 HP:0031202 04 Apr 2018 Finding WBP11 spliceosomopathy 12 Jun 2020 Disease Wbs triplication syndrome NCBI curation 16 Feb 2016 Disease WDR1 deficiency CN262306 13 Sep 2019 Disease WDR19-Related Disorders 23 May 2019 Disease WDR35-Related Disorders CN239419 02 Dec 2016 Disease Weak arterial pulse NCBI curation C0232132 16 Feb 2016 Finding Weak cry Human Phenotype Ontology C0234860 HP:0001612 16 Feb 2016 Finding Weak D 22 Feb 2019 Finding Weak extraocular muscles Human Phenotype Ontology C1859436 HP:0007715 16 Feb 2016 Finding Weak or absent arterial pulse 25 Oct 2017 Finding Weak RhD expression CN231363 16 Feb 2016 Blood group Weak voice Human Phenotype Ontology C0241700 HP:0001621 16 Feb 2016 Finding Weakened expression of D antigen 22 Feb 2019 Disease Weakness due to upper motor neuron dysfunction Human Phenotype Ontology C4021255 HP:0010549 16 Feb 2016 Finding weakness in the gluteal and quadriceps muscles 07 Nov 2019 Finding weakness in the neck and shoulder girdle muscles 07 Nov 2019 Finding Weakness of facial musculature Human Phenotype Ontology C0427055 HP:0030319 04 Apr 2018 Finding weakness of left lower extremity 05 Sep 2019 Finding Weakness of long finger extensor muscles Human Phenotype Ontology C4024601 HP:0009077 16 Feb 2016 Finding Weakness of muscles of respiration Human Phenotype Ontology C4025347 HP:0004347 16 Feb 2016 Finding Weakness of orbicularis oculi muscle Human Phenotype Ontology C1839030 HP:0012507 16 Feb 2016 Finding Weakness of the intrinsic hand muscles Human Phenotype Ontology C1834536 HP:0009005 16 Feb 2016 Finding Weaver Johnson syndrome 16 Feb 2016 Disease Weaver syndrome NCBI curation C0265210 277590 16 Feb 2016 Disease Weaver-like syndrome NCBI curation 16 Feb 2016 Disease Weaver-Williams syndrome MONDO C0796198 MONDO:0018095 22 Apr 2020 Disease Webb-Dattani syndrome NCBI curation C4014708 615926 16 Feb 2016 Disease Webbed neck Human Phenotype Ontology C0221217 HP:0000465 16 Feb 2016 Finding Webbed penis Human Phenotype Ontology C0431670 HP:0030264 16 Feb 2016 Finding Webbing of elbows 06 Nov 2018 Finding Webbing of elbows, knees and fingers 06 Nov 2018 Finding Webbing of fingers 06 Nov 2018 Finding Webbing of Neck 06 Nov 2018 Finding Webbing of neck and fingers 06 Nov 2018 Finding Weber syndrome 16 Feb 2016 Disease Webster Deming syndrome 16 Feb 2016 Disease WEE1 Inhibitor response 04 May 2018 Pharmacological response Wegmann Jones Smith syndrome 16 Feb 2016 Disease Weight gain PharmGKB CN236654 18 May 2016 Disease Weight loss Human Phenotype Ontology C1262477 HP:0001824 16 Feb 2016 Finding Weil's disease MONDO C0043102 MONDO:0043004 04 Jun 2020 Infectious disease Weill-Marchesani syndrome OMIM phenotypic series C0265313 PS277600 16 Feb 2016 Disease Weill-Marchesani syndrome 1 NCBI curation C4552002 277600 16 Feb 2016 Disease Weill-Marchesani syndrome 2 NCBI curation C1869115 608328 16 Feb 2016 Disease Weill-Marchesani syndrome 2, dominant CN260019 18 Jun 2019 Disease Weill-Marchesani syndrome 3 NCBI curation C3553785 614819 16 Feb 2016 Disease Weill-Marchesani syndrome 3, recessive CN260020 18 Jun 2019 Disease Weill-Marchesani syndrome 4 NCBI curation C2750787 613195 05 Aug 2019 Disease Weinstein Kliman Scully syndrome C2931289 16 Feb 2016 Disease Weismann-Netter syndrome MONDO C1862172 MONDO:0007209 112350 22 Apr 2020 Disease WEISS-KRUSZKA SYNDROME OMIM C5231429 618619 618619 13 Oct 2019 Disease Weissenbacher-Zweymuller syndrome, autosomal recessive NCBI curation 16 Feb 2016 Disease Welander distal myopathy NCBI curation C0221054 604454 03 Jan 2018 Disease Weleber Hecht Bigley syndrome 16 Feb 2016 Disease Well differentiated papillary mesothelioma MONDO C1337012 MONDO:0003688 17 Apr 2020 Disease Well-differentiated fetal adenocarcinoma of the lung MONDO CN202865 MONDO:0017292 17 Apr 2020 Disease Well-differentiated thymic neuroendocrine carcinoma MONDO C4305465 MONDO:0016976 17 Apr 2020 Disease Wells Jankovic syndrome 16 Feb 2016 Disease Werdnig-Hoffmann disease C0043116 253300 16 Feb 2016 Disease Werner syndrome C0043119 277700 16 Feb 2016 Disease Wernicke encephalopathy MONDO C0043121 MONDO:0007020 17 Apr 2020 Disease West Nile fever MONDO C0043124 MONDO:0002282 04 Jun 2020 Infectious disease West nile virus 16 Feb 2016 Disease West nile virus, susceptibility to NCBI curation C1835867 610379 16 Feb 2016 Disease West syndrome NCBI curation C0037769 16 Feb 2016 Disease West-Nile encephalitis MONDO C0751583 MONDO:0019376 07 Jun 2020 Infectious disease Western equine encephalitis NCBI curation C0153064 16 Feb 2016 Infectious disease Western/Eastern/California encephalitis 16 Feb 2016 Disease Westphal disease C1279186 16 Feb 2016 Disease Wet beriberi MONDO C0268669 MONDO:0024183 07 Jun 2020 Disease Wet macular degeneration MONDO C2237660 MONDO:0005417 17 Apr 2020 Disease Weyers ulnar ray/oligodactyly syndrome C1865566 602418 16 Feb 2016 Disease WFS1-Related Spectrum Disorders CN239410 02 Dec 2016 Disease Wh/ht NCBI curation 16 Feb 2016 Disease Wheat allergic disease MONDO C0949570 MONDO:0007021 17 Apr 2020 Disease Wheezing Human Phenotype Ontology C0043144 HP:0030828 02 Apr 2017 Finding Whipple's disease C0023788 16 Feb 2016 Infectious disease Whistling appearance Human Phenotype Ontology C1848473 HP:0000346 16 Feb 2016 Finding Whistling face syndrome, recessive form C1848470 277720 16 Feb 2016 Disease White blood cell count quantitative trait locus 1 NCBI curation C2676078 611862 16 Feb 2016 Disease White eyebrow Human Phenotype Ontology C1836737 HP:0002226 16 Feb 2016 Finding White eyelashes Human Phenotype Ontology C1836736 HP:0002227 16 Feb 2016 Finding White fibrous papulosis of the neck MONDO CN226935 MONDO:0016447 17 Apr 2020 Disease White forelock Human Phenotype Ontology C0344312 HP:0002211 16 Feb 2016 Finding White forelock with malformations C1848463 277740 16 Feb 2016 Disease White hair Human Phenotype Ontology C0239804 HP:0011364 16 Feb 2016 Finding White heifer disease MONDO C0043152 MONDO:0025163 17 Apr 2020 Disease White lesion of the oral mucosa Human Phenotype Ontology C4476601 HP:0025125 02 Apr 2017 Finding White mater abnormalities in the posterior periventricular region Human Phenotype Ontology C1836525 HP:0006812 16 Feb 2016 Finding white matter abnormal in the cerebrum MR 10 Jan 2020 Finding White matter deficit 31 Dec 2019 Disease White matter hyperintensities NCBI curation C2938912 02 Feb 2017 Finding White matter hypoplasia, corpus callosum agenesia, and mental retardation 16 Feb 2016 Disease White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome MONDO C2931292 MONDO:0017918 17 Apr 2020 Disease white matter intensities 13 Oct 2017 Finding White matter loss 26 Feb 2020 Finding White matter neuronal heterotopia Human Phenotype Ontology C1855774 HP:0007314 16 Feb 2016 Finding White matter volume loss 23 Jan 2020 Finding White muscle disease MONDO C0043153 MONDO:0025139 17 Apr 2020 Disease White papule Human Phenotype Ontology C0858697 HP:0031289 04 Apr 2018 Finding white patches in pupil 20 Jun 2019 Finding White piedra MONDO C0040249 MONDO:0001827 04 Jun 2020 Infectious disease White platelet syndrome C2931293 16 Feb 2016 Disease White scaling skin Human Phenotype Ontology C4073146 HP:0040190 16 Feb 2016 Finding White shrimp allergy MONDO MONDO:0000804 17 Apr 2020 Disease White sponge nevus OMIM phenotypic series C1721005 PS193900 22 Dec 2019 Disease White sponge nevus 1 MONDO C4011926 MONDO:0008676 193900 22 Apr 2020 Disease White sponge nevus 2 NCBI curation C4014321 615785 16 Feb 2016 Disease White streaks/specks on enamel. Human Phenotype Ontology C4476600 HP:0025123 02 Apr 2017 Finding White-sutton syndrome NCBI curation C4225351 616364 24 Aug 2016 Disease Whitewater Arroyo hemorrhagic fever MONDO CN281919 MONDO:0000282 04 Jun 2020 Infectious disease Whitish blonde forelock CN240947 20 Mar 2017 Finding Whole-immunoglobulin paraproteinemia Human Phenotype Ontology C4476931 HP:0031050 04 Apr 2018 Finding Whooping cough Human Phenotype Ontology C0043168 HP:0031247 04 Apr 2018 Finding WHSC1 (NSD2)-related condition 02 Aug 2019 Finding wide and depressed nasal bridge 22 Aug 2019 Finding wide and low set pinnae CN228788 16 Feb 2016 Finding Wide anterior fontanel Human Phenotype Ontology C1866134 HP:0000260 16 Feb 2016 Finding Wide capital femoral epiphyses Human Phenotype Ontology C4024622 HP:0008784 16 Feb 2016 Finding Wide cranial sutures Human Phenotype Ontology C0410935 HP:0010537 16 Feb 2016 Finding Wide distal femoral metaphysis Human Phenotype Ontology C1849309 HP:0006387 16 Feb 2016 Finding Wide epiphyseal plates of the upper limbs Human Phenotype Ontology C4020913 HP:0003846 16 Feb 2016 Finding Wide epiphyses of the upper limbs Human Phenotype Ontology C4021709 HP:0003904 16 Feb 2016 Finding wide hallux 22 Aug 2019 Finding Wide hamate bone Human Phenotype Ontology C4021667 HP:0004261 16 Feb 2016 Finding Wide humeral diaphysis Human Phenotype Ontology C4021704 HP:0003935 16 Feb 2016 Finding Wide humerus Human Phenotype Ontology C4021715 HP:0003886 16 Feb 2016 Finding Wide intermamillary distance Human Phenotype Ontology C1827524 HP:0006610 16 Feb 2016 Finding Wide mouth Human Phenotype Ontology C0024433 HP:0000154 16 Feb 2016 Finding Wide nasal base Human Phenotype Ontology C1849667 HP:0012810 16 Feb 2016 Finding Wide nasal bridge Human Phenotype Ontology C1849367 HP:0000431 16 Feb 2016 Finding Wide nasal ridge Human Phenotype Ontology C4020718 HP:0012811 16 Feb 2016 Finding Wide nose Human Phenotype Ontology C0426421 HP:0000445 16 Feb 2016 Finding Wide penis Human Phenotype Ontology C4022551 HP:0030265 16 Feb 2016 Finding Wide proximal femoral metaphysis Human Phenotype Ontology C4024623 HP:0008783 16 Feb 2016 Finding Wide pubic symphysis Human Phenotype Ontology C1857190 HP:0003183 16 Feb 2016 Finding Wide radioulnar joints Human Phenotype Ontology C4021699 HP:0003973 16 Feb 2016 Finding Wide right hallux 22 Jun 2020 Finding Wide tufts of distal phalanges Human Phenotype Ontology C1835101 HP:0006095 16 Feb 2016 Finding Wide ulnar metaphysis Human Phenotype Ontology C4021687 HP:0004047 16 Feb 2016 Finding Wide-cupped costochondral junctions Human Phenotype Ontology C1861213 HP:0000910 16 Feb 2016 Finding Wide-set nipples 03 Mar 2020 Finding wide-spaced and conical teeth 22 Aug 2019 Finding Widely patent coronal suture Human Phenotype Ontology C1856778 HP:0005442 16 Feb 2016 Finding Widely patent fontanelles and sutures Human Phenotype Ontology C1849300 HP:0004492 16 Feb 2016 Finding Widely patent sagittal suture Human Phenotype Ontology C1856779 HP:0005476 16 Feb 2016 Finding Widely spaced primary teeth Human Phenotype Ontology C4021603 HP:0006313 16 Feb 2016 Finding Widely spaced teeth Human Phenotype Ontology C1844813 HP:0000687 16 Feb 2016 Finding Widely spaced toes Human Phenotype Ontology C1969238 HP:0008094 16 Feb 2016 Finding Widely spaed teeth 23 Jan 2020 Finding Widely-spaced incisors Human Phenotype Ontology C0399545 HP:0006304 16 Feb 2016 Finding Widely-spaced maxillary central incisors Human Phenotype Ontology C1835762 HP:0001566 16 Feb 2016 Finding Widened atrophic scar Human Phenotype Ontology C4477010 HP:0031158 04 Apr 2018 Finding Widened cerebellar subarachnoid space Human Phenotype Ontology C4022734 HP:0012765 16 Feb 2016 Finding Widened cerebral subarachnoid space Human Phenotype Ontology C4022733 HP:0012766 16 Feb 2016 Finding Widened distal phalanges Human Phenotype Ontology C1862421 HP:0006200 16 Feb 2016 Finding Widened interpedicular distance Human Phenotype Ontology C4022784 HP:0012679 16 Feb 2016 Finding Widened metacarpal shaft Human Phenotype Ontology C1850159 HP:0006012 16 Feb 2016 Finding Widened posterior fossa Human Phenotype Ontology C1855889 HP:0005445 16 Feb 2016 Finding Widened proximal tibial metaphyses Human Phenotype Ontology C1836187 HP:0005028 16 Feb 2016 Finding Widened sacrosciatic notch Human Phenotype Ontology C4024620 HP:0008798 16 Feb 2016 Finding Widened subarachnoid space Human Phenotype Ontology C1846151 HP:0012704 16 Feb 2016 Finding Widening of cervical spinal canal Human Phenotype Ontology C3807591 HP:0004571 16 Feb 2016 Finding Widening of the sacrosciatic notch Human Phenotype Ontology C4023821 HP:0010457 16 Feb 2016 Finding Widow's peak Human Phenotype Ontology C1853486 HP:0000349 194000 16 Feb 2016 Finding Widow's peak syndrome NCBI curation C1839112 314570 16 Feb 2016 Disease WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED OMIM CN272919 301041 301041 11 Apr 2020 Disease Wiedemann Grosse Dibbern syndrome 16 Feb 2016 Disease Wiedemann Opitz syndrome 16 Feb 2016 Disease Wiedemann-Steiner syndrome NCBI curation C1854630 605130 16 Feb 2016 Disease Wife is heterozygous for c.1168G>A(p.Gly390Arg) in exon 15 of ASS1 gene, and previous child died due to Hyperammonemia (HP:0001987) and elevated Glutarylcarnitine. Wife also had a history of one miscarriage. 26 Jul 2018 Finding Wild type ABeta2M amyloidosis MONDO CN206197 MONDO:0019440 17 Apr 2020 Disease Wild type ATTR amyloidosis MONDO C0342623 MONDO:0018018 17 Apr 2020 Disease Wildervanck's syndrome C0265239 314600 16 Feb 2016 Disease Wilkes Stevenson syndrome 16 Feb 2016 Disease Wilkie Taylor Scambler syndrome 16 Feb 2016 Disease Willebrand disease, acquired 16 Feb 2016 Disease Willems De vries syndrome 16 Feb 2016 Disease Williams syndrome C0175702 194050 16 Feb 2016 Disease Williams trait NCBI curation 16 Feb 2016 Disease Williams-Beuren region duplication syndrome NCBI curation C1857844 609757 16 Feb 2016 Disease Wilms Tumor NCBI curation CN253810 13 Dec 2018 Disease Wilms tumor 1 NCBI curation CN033288 194070 16 Feb 2016 Disease Wilms tumor 2 NCBI curation C3887743 194071 16 Feb 2016 Disease Wilms tumor 3 NCBI curation C1860265 194090 16 Feb 2016 Disease Wilms tumor 4 NCBI curation C1832426 601363 16 Feb 2016 Disease Wilms tumor 5 MONDO C1832099 MONDO:0011112 601583 17 Apr 2020 Disease Wilms tumor 6 NCBI curation C3891301 616806 16 Feb 2016 Disease Wilms tumor susceptibility-5 CN260021 18 Jun 2019 Disease Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome NCBI curation C0206115 194072 01 Jul 2016 Disease Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome NCBI curation C2675904 612469 16 Feb 2016 Disease Wilson disease NCBI curation C0019202 277900 05 Nov 2016 Disease Wilson-Mikity syndrome C0270171 16 Feb 2016 Disease Wilson-Turner syndrome C0796255 20 Jun 2019 Disease Wilson-Turner X-linked mental retardation syndrome C1839736 309585 16 Feb 2016 Disease Winchester syndrome NCBI curation C0432289 277950 16 Feb 2016 Disease Wind-swept deformity of the knees Human Phenotype Ontology C4022030 HP:0100531 16 Feb 2016 Finding Windblown hand 16 Feb 2016 Disease Winship Viljoen Leary syndrome C1855080 251220 16 Feb 2016 Disease Winter Harding Hyde syndrome 16 Feb 2016 Disease Wisconsin syndrome 16 Feb 2016 Disease Wiskott-Aldrich syndrome NCBI curation C0043194 301000 16 Feb 2016 Disease Wiskott-Aldrich syndrome 2 NCBI curation C3281001 614493 16 Feb 2016 Disease Wiskott-Aldrich syndrome, attenuated NCBI curation C4016481 16 Feb 2016 Disease Wiskott-Aldrich syndrome, autosomal dominant form NCBI curation C1833170 600903 16 Feb 2016 Disease Wissler syndrome MONDO C0043195 MONDO:0006018 04 Jun 2020 Infectious disease withoutut status epilepticus 05 Sep 2019 Finding Witteveen-kolk syndrome NCBI curation C4310804 613406 24 Aug 2016 Disease WNT10A-Related Disorders 23 May 2019 Disease Wolcott-Rallison dysplasia C0432217 226980 16 Feb 2016 Disease Wolf-Hirschhorn like syndrome 18 Jan 2019 Disease Wolff-Parkinson-White pattern C0043202 194200 16 Feb 2016 Disease Wolff-Parkinson-White syndrome Human Phenotype Ontology C1963282 HP:0001716 16 Feb 2016 Finding Wolff-Parkinson-White syndrome, childhood-onset NCBI curation C4016809 16 Feb 2016 Disease Wolffian adnexal tumor MONDO C1520159 MONDO:0004255 17 Apr 2020 Disease Wolffian duct adenocarcinoma MONDO C1516419 MONDO:0003410 17 Apr 2020 Disease Wolfram syndrome C0043207 16 Feb 2016 Disease Wolfram syndrome 2 NCBI curation C1858028 604928 16 Feb 2016 Disease Wolfram syndrome, mitochondrial form NCBI curation C1838782 598500 16 Feb 2016 Disease Wolfram Syndrome-Like Disease CN230136 16 Feb 2016 Disease Wolfram-like syndrome, autosomal dominant NCBI curation C3280358 614296 16 Feb 2016 Disease Wolman disease NCBI curation CN438428 16 Feb 2016 Disease Wolman disease with hypolipoproteinemia and acanthocytosis NCBI curation C1848436 278100 16 Feb 2016 Disease Woods syndrome NCBI curation C0796203 615236 16 Feb 2016 Disease Woolly hair, autosomal dominant NCBI curation C1860238 194300 16 Feb 2016 Disease Woolly hair, autosomal recessive 2, with or without hypotrichosis NCBI curation C3148823 16 Feb 2016 Disease Woolly scalp hair Human Phenotype Ontology C4015203 HP:0040149 16 Feb 2016 Finding Wooly hair NCBI curation C0343073 16 Feb 2016 Disease Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia MONDO C1858032 MONDO:0011501 604922 17 Apr 2020 Disease Wormian bones Human Phenotype Ontology C0222716 HP:0002645 16 Feb 2016 Finding Woronets trait NCBI curation C1860237 194320 16 Feb 2016 Disease Worster-Drought syndrome MONDO C0796204 MONDO:0008503 185480 22 Apr 2020 Disease Worth disease C0432273 144750 16 Feb 2016 Disease Wound botulism MONDO C1306794 MONDO:0015803 04 Jun 2020 Infectious disease Wound myiasis MONDO C0344061 MONDO:0015622 04 Jun 2020 Infectious disease Wright Dyck syndrome 16 Feb 2016 Disease Wrinkly skin syndrome NCBI curation C0406587 278250 16 Feb 2016 Disease Wrist drop Human Phenotype Ontology C0231666 HP:0031189 04 Apr 2018 Finding Wrist flexion contracture Human Phenotype Ontology C0409345 HP:0001239 16 Feb 2016 Finding Wrist pain Human Phenotype Ontology C0221785 HP:0030836 02 Apr 2017 Finding Wrist swelling Human Phenotype Ontology C0241760 HP:0001225 16 Feb 2016 Finding Writer's cramp Human Phenotype Ontology C0154676 HP:0002356 16 Feb 2016 Finding Writing disorder MONDO MONDO:0000599 17 Apr 2020 Disease WT limb-blood syndrome MONDO C1327917 MONDO:0008688 194350 22 Apr 2020 Disease WT1-Related Disorders CN170845 16 Feb 2016 Disease Wyburn-Mason syndrome MONDO C0265321 MONDO:0018892 22 Apr 2020 Disease X and Y chromosomal anomaly MONDO CN227066 MONDO:0017006 17 Apr 2020 Disease X chromosome deletion/duplication NCBI curation CN179857 16 Feb 2016 Disease X chromosome number anomaly MONDO CN227060 MONDO:0016999 17 Apr 2020 Disease X chromosome number anomaly with female phenotype MONDO CN227061 MONDO:0017000 17 Apr 2020 Disease X chromosome number anomaly with male phenotype MONDO CN227062 MONDO:0017001 17 Apr 2020 Disease X chromosome, duplication Xq13 1 q21 1 CN037139 16 Feb 2016 Disease X chromosome, monosomy Xp22 pter 16 Feb 2016 Disease X chromosome, monosomy Xq28 CN036663 16 Feb 2016 Disease X chromosome, trisomy 26-28 16 Feb 2016 Disease X chromosome, trisomy Xp3 CN036332 16 Feb 2016 Disease X chromosome, trisomy Xpter Xq13 CN037027 16 Feb 2016 Disease X chromosome, trisomy Xq25 CN036552 16 Feb 2016 Disease X inactivation, familial skewed, 1 NCBI curation C1848138 300087 16 Feb 2016 Disease X inactivation, familial skewed, 2 NCBI curation C1846257 300179 16 Feb 2016 Disease X linked condition CN181772 16 Feb 2016 Disease X small rings MONDO C4707824 MONDO:0019926 17 Apr 2020 Disease X-linked acrogigantism due to a point mutation MONDO MONDO:0018665 17 Apr 2020 Disease X-linked agammaglobulinemia C0221026 300755 16 Feb 2016 Disease X-linked agammaglobulinemia with growth hormone deficiency C0472813 307200 16 Feb 2016 Disease X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 MONDO C1845051 MONDO:0010522 301201 22 Apr 2020 Disease X-linked calvarial hyperostosis MONDO C1863351 MONDO:0010541 302030 17 Apr 2020 Disease X-linked cerebellar ataxia MONDO CN226974 MONDO:0016612 17 Apr 2020 Disease X-linked Charcot-Marie-Tooth disease type 1 CN276907 04 Dec 2019 Disease X-linked chondrodysplasia punctata MONDO C0263627 MONDO:0010556 17 Apr 2020 Disease X-linked chondrodysplasia punctata 1 MONDO C1844853 MONDO:0010555 302950 22 Apr 2020 Disease X-linked complex spastic paraplegia MONDO CN229302 MONDO:0020339 17 Apr 2020 Disease X-linked complicated spastic paraplegia type 1 MONDO MONDO:0017630 17 Apr 2020 Disease X-linked cone-rod dystrophy MONDO MONDO:0021155 17 Apr 2020 Disease X-linked cone-rod dystrophy 2 MONDO C1848139 MONDO:0010245 300085 22 Apr 2020 Disease X-linked cone-rod dystrophy 3 MONDO C1845407 MONDO:0010335 300476 22 Apr 2020 Disease X-linked congenital disorder of glycosylation with intellectual disability as a major feature MONDO CN227301 MONDO:0018285 17 Apr 2020 Disease X-linked congenital generalized hypertrichosis MONDO C1855900 MONDO:0010614 307150 22 Apr 2020 Disease X-linked congenital hemolytic anemia MONDO C4746970 MONDO:0060455 301015 22 Apr 2020 Disease X-linked corneal dermoid MONDO C1844671 MONDO:0010579 304730 17 Apr 2020 Disease X-linked diffuse leiomyomatosis-Alport syndrome MONDO C1839884 MONDO:0010641 308940 17 Apr 2020 Disease X-linked disease MONDO MONDO:0000425 17 Apr 2020 Disease X-linked distal hereditary motor neuropathy MONDO CN229167 MONDO:0018451 17 Apr 2020 Disease X-linked DMD-related dystrophinopathy 21 Dec 2019 Disease X-linked dominant disease MONDO MONDO:0020604 17 Apr 2020 Disease X-linked dominant inheritance 14 Dec 2018 Finding X-linked dominant intellectual disability-epilepsy syndrome MONDO MONDO:0019770 17 Apr 2020 Disease X-linked dominant Parkinson's disease CN234611 16 Feb 2016 Disease X-linked dystonia-parkinsonism MONDO C1839130 MONDO:0010747 314250 22 Apr 2020 Disease X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome MONDO C4746975 MONDO:0044702 301018 17 Apr 2020 Disease X-linked hereditary motor and sensory neuropathy C0393808 302800 16 Feb 2016 Disease X-linked hereditary sensory and autonomic neuropathy with deafness MONDO C4304400 MONDO:0010378 17 Apr 2020 Disease X-linked hydrocephalus syndrome NCBI curation C0265216 307000 16 Feb 2016 Disease X-linked hyper-IgM syndrome MONDO C0398689 MONDO:0010626 308230 22 Apr 2020 Disease X-linked hypophosphatemic rickets (recessive or dominant) MONDO MONDO:0020720 17 Apr 2020 Disease X-linked ichthyosis with steryl-sulfatase deficiency NCBI curation C0079588 308100 16 Feb 2016 Disease X-linked immunoneurologic disorder MONDO C1848144 MONDO:0010243 300076 22 Apr 2020 Disease X-linked inheritance CN236411 06 May 2016 Finding X-linked intellectual disability due to GRIA3 anomalies MONDO C5191041 MONDO:0018222 17 Apr 2020 Disease X-linked intellectual disability syndrome 13 Oct 2017 Disease X-linked intellectual disability, Cilliers type MONDO C4305024 MONDO:0015600 17 Apr 2020 Disease X-linked intellectual disability, Golabi-Ito-hall type MONDO CN206703 MONDO:0019768 17 Apr 2020 Disease X-linked intellectual disability, Pai type MONDO C4305026 MONDO:0019420 17 Apr 2020 Disease X-linked intellectual disability, Porteous type MONDO CN206701 MONDO:0019766 17 Apr 2020 Disease X-linked intellectual disability, Schimke type MONDO C1839320 MONDO:0010729 312840 17 Apr 2020 Disease X-linked intellectual disability, Schutz type MONDO MONDO:0017616 17 Apr 2020 Disease X-linked intellectual disability, Seemanova type MONDO C4305088 MONDO:0019421 17 Apr 2020 Disease X-linked intellectual disability, Stevenson type MONDO C4305077 MONDO:0019422 17 Apr 2020 Disease X-linked intellectual disability, Stocco dos Santos type MONDO C1845530 MONDO:0010325 300434 17 Apr 2020 Disease X-linked intellectual disability, Stoll type MONDO C4305075 MONDO:0019423 17 Apr 2020 Disease X-linked intellectual disability, Sutherland-Haan type MONDO CN206704 MONDO:0019769 17 Apr 2020 Disease X-linked intellectual disability, Van Esch type NCBI curation C4305072 17 May 2019 Disease X-linked intellectual disability-acromegaly-hyperactivity syndrome MONDO CN227631 MONDO:0019424 17 Apr 2020 Disease X-linked intellectual disability-ataxia-apraxia syndrome MONDO CN227633 MONDO:0019430 17 Apr 2020 Disease X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome MONDO CN206182 MONDO:0019426 17 Apr 2020 Disease X-linked intellectual disability-epilepsy syndrome MONDO CN226857 MONDO:0016160 17 Apr 2020 Disease X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome MONDO CN206173 MONDO:0019418 17 Apr 2020 Disease X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome MONDO CN206172 MONDO:0019416 17 Apr 2020 Disease X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome MONDO C0796264 MONDO:0017614 17 Apr 2020 Disease X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome MONDO CN206181 MONDO:0019425 17 Apr 2020 Disease X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome MONDO C4517296 MONDO:0018495 17 Apr 2020 Disease X-linked intellectual disability-macrocephaly-macroorchidism syndrome MONDO C4304406 MONDO:0019419 17 Apr 2020 Disease X-linked intellectual disability-plagiocephaly syndrome MONDO C1848205 MONDO:0010237 300064 07 Jun 2020 Disease X-linked intellectual disability-precocious puberty-obesity syndrome MONDO MONDO:0019417 17 Apr 2020 Disease X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome MONDO CN258530 MONDO:0044617 17 Apr 2020 Disease X-linked lethal multiple pterygium syndrome MONDO C1839440 MONDO:0010716 312150 17 Apr 2020 Disease X-linked lissencephaly with ambigious genitalia CN860322 13 Mar 2018 Disease X-Linked Lymphoproliferative Syndrome NCBI curation C0549463 16 Mar 2018 Disease X-linked mandibulofacial dysostosis MONDO C1844918 MONDO:0010539 301950 17 Apr 2020 Disease X-linked MED12-related disorder 21 Dec 2019 Disease X-Linked Mental Retardation 41 NCBI curation C3887939 300849 16 Feb 2016 Disease X-Linked Mental Retardation 88 NCBI curation C3275444 300852 16 Feb 2016 Disease X-Linked Mental Retardation 89 NCBI curation C1839082 300848 16 Feb 2016 Disease X-Linked mental retardation 90 NCBI curation C3275443 300850 16 Feb 2016 Disease X-linked mental retardation with marfanoid habitus syndrome C0796022 309520 16 Feb 2016 Disease X-linked myopathy with excessive autophagy MONDO C1839615 MONDO:0010684 310440 22 Apr 2020 Disease X-linked neurodegenerative syndrome, Bertini type MONDO C4305133 MONDO:0019427 17 Apr 2020 Disease X-linked neurodegenerative syndrome, Hamel type MONDO C4305135 MONDO:0019429 17 Apr 2020 Disease X-linked osteoporosis with fractures MONDO C5190610 MONDO:0018315 17 Apr 2020 Disease X-linked pure spastic paraplegia MONDO CN229117 MONDO:0017912 17 Apr 2020 Disease X-linked recessive disease MONDO MONDO:0020605 17 Apr 2020 Disease X-linked recessive inheritance NCBI curation C1845977 15 Apr 2017 Finding X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome MONDO MONDO:0019389 17 Apr 2020 Disease X-linked recessive nephrolithiasis with renal failure C0403720 310468 16 Feb 2016 Disease X-linked recessive seizure and neurodevelopmental deficit 06 Feb 2018 Disease X-linked retinitis pigmentosa NCBI curation C0339528 14 Feb 2019 Disease X-linked severe combined immunodeficiency C1279481 300400 16 Feb 2016 Disease X-linked severe congenital neutropenia MONDO C1845987 MONDO:0010294 300299 22 Apr 2020 Disease X-linked sideroblastic anemia with ataxia MONDO C1845028 MONDO:0010524 301310 17 Apr 2020 Disease X-linked spinocerebellar ataxia type 3 MONDO C1844936 MONDO:0010529 301790 22 Apr 2020 Disease X-linked spinocerebellar ataxia type 4 MONDO C1844933 MONDO:0010534 301840 22 Apr 2020 Disease X-linked spondyloepimetaphyseal dysplasia MONDO C1848097 MONDO:0010248 300106 22 Apr 2020 Disease X-Linked Syndrome of Polyendocrinopathy, Immune Dysfunction, and Diarrhea CN868261 16 Mar 2018 Disease X-linked thrombocytopenia with normal platelets MONDO C1839163 MONDO:0010743 313900 17 Apr 2020 Disease X-ray sensitivity NCBI curation C1860232 194370 16 Feb 2016 Disease Xanthelasma Human Phenotype Ontology C0155210 HP:0001114 16 Feb 2016 Finding Xanthelasmas, periorbital NCBI curation 16 Feb 2016 Disease Xanthine nephrolithiasis Human Phenotype Ontology C1848431 HP:0000804 16 Feb 2016 Finding Xanthinuria Human Phenotype Ontology C0220988 HP:0010934 16 Feb 2016 Finding Xanthinuria type II MONDO C1863688 MONDO:0011346 603592 22 Apr 2020 Disease Xanthogranuloma MONDO MONDO:0024617 17 Apr 2020 Disease Xanthogranulomatous cholecystitis C1337035 16 Feb 2016 Disease Xanthogranulomatous pyelonephritis MONDO C0034188 MONDO:0007022 04 Jun 2020 Infectious disease Xanthogranulomatous sialadenitis C2931315 16 Feb 2016 Disease Xanthoma (disease) MONDO MONDO:0005236 17 Apr 2020 Disease Xanthoma disseminatum MONDO C0043322 MONDO:0015535 17 Apr 2020 Disease Xanthomas 30 Apr 2020 Finding Xanthomas of the palmar creases Human Phenotype Ontology C4476834 HP:0025530 04 Apr 2018 Finding Xanthomatosis Human Phenotype Ontology C0043325 HP:0000991 16 Feb 2016 Finding Xanthomatosis, susceptibility to NCBI curation C1865704 602247 16 Feb 2016 Disease Xerocytosis NCBI curation C4551512 194380 16 Feb 2016 Disease Xeroderma of eyelid MONDO C0155179 MONDO:0004718 17 Apr 2020 Disease Xeroderma pigmentosum NCBI curation C0043346 16 Feb 2016 Disease Xeroderma pigmentosum and Cockayne syndrome complex NCBI curation C4304411 27 Apr 2018 Disease Xeroderma pigmentosum group A MONDO C0268135 MONDO:0010210 278700 22 Apr 2020 Disease Xeroderma pigmentosum group g/Cockayne syndrome NCBI curation C1968561 16 Feb 2016 Disease Xeroderma pigmentosum variant type MONDO C1848410 MONDO:0010214 278750 22 Apr 2020 Disease Xeroderma pigmentosum, autosomal dominant, mild NCBI curation C1860231 194400 16 Feb 2016 Disease Xeroderma pigmentosum, complementation group b NCBI curation C0268136 610651 16 Feb 2016 Disease Xeroderma pigmentosum, group C NCBI curation C2752147 278720 16 Feb 2016 Disease Xeroderma pigmentosum, group D C0268138 278730 16 Feb 2016 Disease Xeroderma pigmentosum, group E NCBI curation C1848411 278740 16 Feb 2016 Disease Xeroderma pigmentosum, group E, DDB-negative subtype CN263334 30 Jun 2019 Disease Xeroderma pigmentosum, group F C0268140 278760 16 Feb 2016 Disease Xeroderma pigmentosum, group G NCBI curation C0268141 278780 16 Feb 2016 Disease Xeroderma pigmentosum, type 2 16 Feb 2016 Disease Xeroderma pigmentosum, type 3 16 Feb 2016 Disease Xeroderma pigmentosum, type 5 16 Feb 2016 Disease Xeroderma pigmentosum, type 9 16 Feb 2016 Disease Xeroderma pigmentosum, type F/Cockayne syndrome NCBI curation C3806565 26 Jan 2020 Disease Xeroderma talipes enamel defects 16 Feb 2016 Disease Xerostomia Human Phenotype Ontology C0043352 HP:0000217 16 Feb 2016 Finding XFE progeroid syndrome C1970416 610965 16 Feb 2016 Disease XG and MIC2 expression level NCBI curation C1839098 314705 16 Feb 2016 Finding XG blood group system NCBI curation C1292284 314700 16 Feb 2016 Blood group Xh antigen NCBI curation C3887689 314800 16 Feb 2016 Disease Xhm-ed NCBI curation 16 Feb 2016 Disease Xia-Gibbs syndrome NCBI curation C4014419 615829 16 Feb 2016 Disease XK aprosencephaly C0795952 207770 16 Feb 2016 Disease Xlpan NCBI curation 16 Feb 2016 Disease Xm system NCBI curation C1839088 314900 16 Feb 2016 Disease Xp22.13p22.2 duplication syndrome MONDO C5190686 MONDO:0017284 17 Apr 2020 Disease Xp22.3 microdeletion syndrome MONDO C4512072 MONDO:0015606 17 Apr 2020 Disease Xq12-q13.3 duplication syndrome MONDO C4707094 MONDO:0017794 17 Apr 2020 Disease Xq25 duplication syndrome NCBI curation C4311049 300979 20 Jun 2017 Disease Xq25 triplication syndrome NCBI curation CN238495 20 Jun 2017 Disease XXX, Triple X Syndrome CN262719 19 Nov 2019 Disease XXYY syndrome NCBI curation C2936741 16 Feb 2016 Disease XY females C0432470 16 Feb 2016 Disease Xylosidase deficiency NCBI curation C1848407 278900 16 Feb 2016 Disease XYLT1-CDG MONDO C4750849 MONDO:0018273 17 Apr 2020 Disease Y chromosome deletions C2931163 16 Feb 2016 Disease Y chromosome infertility due to DAZ1 deletion MONDO MONDO:0042605 17 Apr 2020 Disease Y chromosome number anomaly MONDO CN227065 MONDO:0017005 17 Apr 2020 Disease Y chromosome pericentric inversion 16 Feb 2016 Disease Y chromosome-related disorders NCBI curation CN120496 16 Feb 2016 Disease Y-linked disease MONDO C1563751 MONDO:0000428 17 Apr 2020 Disease Y-shaped metacarpals Human Phenotype Ontology C1861373 HP:0006042 16 Feb 2016 Finding Y-shaped metatarsals Human Phenotype Ontology C4023789 HP:0010567 16 Feb 2016 Finding Yakut short stature syndrome NCBI curation C2678312 16 Feb 2016 Disease Yao syndrome NCBI curation C4310620 617321 20 Jun 2017 Disease Yaws C0043388 16 Feb 2016 Infectious disease YEAST FACTOR OMIM CN263254 194450 194450 08 Feb 2020 Disease Yellow fever C0043395 16 Feb 2016 Infectious disease Yellow nail syndrome C0221348 153300 16 Feb 2016 Disease Yellow nails Human Phenotype Ontology C1768507 HP:0011367 16 Feb 2016 Finding Yellow nodule Human Phenotype Ontology C2153623 HP:0025554 04 Apr 2018 Finding Yellow papule Human Phenotype Ontology C2033396 HP:0025507 04 Apr 2018 Finding Yellow skin plaque Human Phenotype Ontology C2126312 HP:0031360 04 Apr 2018 Finding Yellow subcutaneous tissue covered by thin, scaly skin Human Phenotype Ontology C1850533 HP:0007525 16 Feb 2016 Finding Yellow-brown discoloration of the teeth Human Phenotype Ontology C1863008 HP:0006286 16 Feb 2016 Finding Yellow/white lesions of the macula Human Phenotype Ontology C4072987 HP:0030500 16 Feb 2016 Finding Yellow/white lesions of the retina Human Phenotype Ontology C4072991 HP:0030506 16 Feb 2016 Finding yellowish discoloration of skin 11 May 2019 Finding yellowish discoloration of urine 11 May 2019 Finding Yersinia enterocolitica infectious disease MONDO CN281891 MONDO:0042370 04 Jun 2020 Infectious disease Yersinia infectious disease MONDO CN281663 MONDO:0007023 04 Jun 2020 Infectious disease Yersinia pseudotuberculosis infectious disease MONDO C0043410 MONDO:0007024 04 Jun 2020 Infectious disease Yolk sac tumor C0014145 16 Feb 2016 Disease YOLK SAC TUMOR AND HIGH-GRADE IMMATURE TERATOMA 20 Sep 2017 Disease Yolk sac tumor of central nervous system MONDO C1337040 MONDO:0016739 17 Apr 2020 Disease Yorifuji Okuno syndrome 16 Feb 2016 Disease You-Hoover-Fong syndrome NCBI curation C4310778 616954 22 Jun 2016 Disease Young Hughes syndrome 16 Feb 2016 Disease Young's syndrome C0340037 279000 16 Feb 2016 Disease Young-onset Parkinson disease Orphanet C4275179 ORPHA2828 08 Apr 2018 Disease YT BLOOD GROUP POLYMORPHISM 16 Feb 2016 Blood group Yuan-Harel-Lupski syndrome NCBI curation C4225255 616652 16 Feb 2016 Disease Yunis-Varon syndrome MONDO C1857663 MONDO:0008995 216340 22 Apr 2020 Disease Yusho Disease 16 Feb 2016 Disease Zadik-Barak-Levin syndrome MONDO C2931298 MONDO:0043073 22 Apr 2020 Disease ZAP-70 deficiency 16 Feb 2016 Disease ZAP70-Related Severe Combined Immunodeficiency C2931299 16 Feb 2016 Disease Zazam Sheriff Phillips syndrome C2931300 16 Feb 2016 Disease Zebra bodies Human Phenotype Ontology C0333776 HP:0031361 04 Apr 2018 Finding Zebra body myopathy MONDO C0270969 MONDO:0019949 17 Apr 2020 Disease Zechi-Ceide syndrome MONDO C2752047 MONDO:0013036 612916 22 Apr 2020 Disease Zellweger Spectrum Disorder C4687396 24 Oct 2019 Disease Zellweger syndrome Orphanet C0043459 ORPHA912 07 May 2020 Disease Zellweger syndrome 2 NCBI curation CN069919 16 Feb 2016 Disease Zerres Rietschel Majewski syndrome C2931301 16 Feb 2016 Disease Zika virus congenital syndrome MONDO MONDO:0000890 17 Apr 2020 Disease Zika virus infectious disease MONDO C0276289 MONDO:0018661 04 Jun 2020 Infectious disease Zimmermann-Laband syndrome OMIM phenotypic series C0796013 PS135500 16 Feb 2016 Disease Zimmermann-Laband syndrome Orphanet C0796013 ORPHA3473 16 Feb 2016 Disease Zimmermann-Laband syndrome 1 NCBI curation C4551773 135500 16 Feb 2016 Disease Zimmermann-Laband syndrome 2 NCBI curation C4225321 616455 26 May 2016 Disease ZIMMERMANN-LABAND SYNDROME 3 OMIM C5231447 618658 618658 14 Nov 2019 Disease Zimmermann-Laband syndrome with epileptic encephalopathy 19 Jun 2019 Disease Zinc deficiency, transient neonatal NCBI curation C1842486 608118 24 Aug 2016 Disease ZINC FINGER PROTEIN 1 OMIM CN263297 194490 194490 26 Feb 2020 Disease ZINC FINGER PROTEIN 103 OMIM CN263298 603985 603985 26 Feb 2020 Disease ZINC FINGER PROTEIN 105 OMIM CN263299 603987 603987 26 Feb 2020 Disease ZINC FINGER PROTEIN 109 OMIM CN263301 603991 603991 26 Feb 2020 Disease ZINC FINGER PROTEIN 110 OMIM CN263306 603992 603992 27 Feb 2020 Disease ZINC FINGER PROTEIN 111 OMIM CN263307 603993 603993 27 Feb 2020 Disease ZINC FINGER PROTEIN 113 OMIM CN263308 603995 603995 27 Feb 2020 Disease ZINC FINGER PROTEIN 118 OMIM CN263309 603997 603997 27 Feb 2020 Disease ZINC FINGER PROTEIN 119 OMIM CN263310 603998 603998 27 Feb 2020 Disease ZINC FINGER PROTEIN 122 OMIM CN263311 604000 604000 27 Feb 2020 Disease ZINC FINGER PROTEIN 123, PSEUDOGENE OMIM CN262546 194630 194630 30 Oct 2019 Disease ZINC FINGER PROTEIN 271, PSEUDOGENE OMIM CN262548 604754 604754 30 Oct 2019 Disease ZINC FINGER PROTEIN 94 OMIM CN263304 603976 603976 27 Feb 2020 Disease ZINC FINGER PROTEIN 97 OMIM CN263305 603979 603979 27 Feb 2020 Disease Zinc, elevated plasma NCBI curation C1860228 194470 16 Feb 2016 Disease Zinc-responsive necrolytic acral erythema MONDO C4546437 MONDO:0018586 17 Apr 2020 Disease ziprasidone response - Toxicity/ADR PharmGKB CN236625 1446898992 18 May 2016 Pharmacological response ZMPSTE24-Related Disorders CN239425 02 Dec 2016 Disease ZNF292-related neurodevelopmental condition 27 Apr 2018 Finding ZNF711-Related X-linked Mental Retardation NCBI curation C2749020 300803 16 Feb 2016 Disease Zollinger-Ellison syndrome Human Phenotype Ontology C0043515 HP:0002044 16 Feb 2016 Disease Zonular cataract Human Phenotype Ontology C1861821 HP:0010920 16 Feb 2016 Finding Zonular Pulverulent Cataract CN239280 02 Dec 2016 Disease Zonular pulverulent cataract 3 NCBI curation C1866078 601885 16 Feb 2016 Disease Zoonoses MONDO C0043528 MONDO:0025481 04 Jun 2020 Infectious disease Zoonotic bacterial infection MONDO C0311376 MONDO:0044746 04 Jun 2020 Infectious disease Zori Stalker Williams syndrome 16 Feb 2016 Disease Zoster sine herpete MONDO C1135841 MONDO:0043988 04 Jun 2020 Infectious disease ZRSR2 PSEUDOGENE 1 OMIM CN262547 601079 601079 30 Oct 2019 Disease ZSWIM6 related intellectual disability 16 Aug 2017 Disease ZTTK syndrome NCBI curation C4310696 617140 20 Jun 2017 Disease Zuclopenthixol response NCBI curation CN221262 16 Feb 2016 Pharmacological response Zuska's disease 16 Feb 2016 Disease ZW10 INTERACTOR, ANTISENSE OMIM CN263313 605499 605499 27 Feb 2020 Disease Zygodactyly 1 NCBI curation C1853294 609815 16 Feb 2016 Disease Zygodactyly type 2 MONDO CN203275 MONDO:0017543 17 Apr 2020 Disease Zygodactyly type 3 MONDO CN203276 MONDO:0017544 17 Apr 2020 Disease Zygodactyly type 4 MONDO CN203277 MONDO:0017545 17 Apr 2020 Disease Zygomycosis C0043541 16 Feb 2016 Infectious disease ​Keratosis pilaris atrophicans MONDO C4310982 MONDO:0018855 28 Apr 2020 Disease ​Keratosis pilaris atrophicans Orphanet C4310982 ORPHA498 28 Apr 2020 Disease