All diseases

50 entries on 1 page. Showing entries 1 - 50.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00959 - dysplasia, otodental, chromsome deletion syndrome - - - - FADD, FGF3 - -
01469 - neutrophilia, hereditary 162830 - - - CSF3R - -
02972 - deafness, congenital, inner ear agenesis, microtia, and microdontia (deafness with LAMM) 610706 AR - - FGF3 - -
04214 - retinal disease - - 48179 45682 ADAM9, AGBL5, ARL2BP, BBS2, C8orf37, IFT43, KIF3B, MERTK, PDE6G, REEP6, SCAPER, USH2A, ZNF408 - -
00194 AFD1 dysostosis, acrofacial, type 1, (AFD-1, Nager type) 154400 AD 26 26 SF3B4 - -
06412 AGM8 Agammaglobulinemia 8, autosomal dominant 616941 AD - - TCF3 - -
04212 BBS Bardet-Biedl syndrome (BBS) - - 282 240 ARL6, BBS9, C8orf37, IFT74 - -
05826 BBS21 Bardet-Biedl syndrome, type 21 (BBS21) 617406 AR - - C8orf37 - -
07055 BRYLIB Bryant-Li-Bhoj neurodevelopmental syndrome - - 1 1 H3F3A, H3F3B - -
07053 BRYLIB1 Bryant-Li-Bhoj neurodevelopmental syndrome, type 1 619720 AD - - H3F3A - -
07054 BRYLIB2 Bryant-Li-Bhoj neurodevelopmental syndrome, type 2 619721 AD - - H3F3B - -
03988 CANDF8 candidiasis, familial, type 8 (CANDF-8) 615527 AR - - TRAF3IP2 - -
05219 CFM1;HFM craniofacial microsomia (Goldenhar syndrome) 164210 AD 16 16 SF3B2 - -
00332 CILD dyskinesia, ciliary, primary (CILD) - - 219 211 C21orf59, CCDC164, CCDC39, DNAAF3, DNAH1, DNAH5, HEATR2, HYDIN, TTC12 - -
02600 CILD2 dyskinesia, ciliary, primary, 2 (CILD-2) 606763 AR - - DNAAF3 - -
03590 CMAMMA aciduria, combined malonic and methylmalonic (CMAMMA) 614265 - 1 1 ACSF3 - -
03671 CORD16;RP64 dystrophy, cone-rod, type 16 (CORD16), retinitis pigmentosa, type 64 (RP64) 614500 AR - - C8orf37 - -
02424 DFNA15 deafness, autosomal dominant, type 15 (DFNA-15) 602459 AD - - POU4F3 - -
05921 HADDS hypotonia, ataxia, and delayed development syndrome (HADDS) 617330 AD 2 2 EBF3 - -
06518 HIES3 Hyper-IgE recurrent infection syndrome 3, autosomal recessive 618282 AR - - ZNF341 - -
00139 ID intellectual disability (ID) - - 2708 2390 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 554 more - -
03750 IIAE5 encephalitis, Herpes simplex, susceptibility to, type 5 614849 - - - TRAF3 - -
04521 IIAE7 encephalitis, Herpes simplex?, susceptibility to, type 7 616532 AD - - IRF3 - -
05292 IMD immunodeficiency (IMD) - - 153 149 ATP6AP1, GTF3A, IL7R, LAT, PTPRC - -
05895 INF infertility - - 20 19 C14orf39, C9orf84 - -
03396 KFS3 Klippel-Feil syndrome, type 3, autosomal dominant (KFS-3) 613702 - 1 1 GDF3 - -
04515 LCDD lacrimal duct defect? (LCDD) 149700 AR - - IGSF3 - -
00611 MC1DN mitochondrial complex I deficiency, nuclear (MC1DN) 252010 AR 31 29 ACAD9, FOXRED1, NDUFA1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFV1, NDUFV2, NUBPL, TIMMDC1 - -
06584 MC1DN18 Mi complex I deficiency, nuclear type 18 618240 AR - - NDUFAF3 - -
03398 MCOP7 microphthalmia, isolated, type 7 (MCOP-7) 613704 AD - - GDF3 - -
03397 MCOPCB6 microphthalmia, isolated, with coloboma, type 6 (MCOPCB6) 613703 AD;DD - - GDF3, GDF6 - -
00857 MCPH10 microcephaly, type 10, primary, autosomal recessive (MCPH-10) 615095 AR 1 - ZNF335 - -
00132 MDS myelodysplastic syndrome (MDS) 614286 SMo 10 13 ASXL1, GATA2, PTPN11, SF3B1, TET2 - -
06138 MRT67 Mental retardation, autosomal recessive 67 618295 AR - - EIF3F - -
00836 MRX14 mental retardation, X-linked, syndromic, type 14 (MRX14) 300676 XLR - - UPF3B - -
05611 NDD neurodevelopmental disorder (NDD) - - 3875 3690 ACBD6, ADARB1, AP1G1, ARFGEF1, ATP9A, CAMSAP1, CAPRIN1, CASP2, CHASERR, CLCN3, CPSF3L, DDB1, DENND5B, DHX30, DHX9, DOHH, DOT1L, EEFSEC, EIF2C1, EIF2C2, 79 more - -
07057 NEDMLOB neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities 620428 AR - - CPSF3L - -
04187 POF ovarian failure, premature (POF) - - 37 22 C14orf39, FOXL2, HFM1, MCM8, NOBOX, STAG3, SYCP2L - -
06898 POF18 ovarian failure, premature, type 18 619203 AR - - C14orf39 - -
03538 PSORS13 psoriasis, susceptibility to, type 13 614070 - - - TRAF3IP2 - -
00112 RP retinitis pigmentosa (RP) 268000 - 1159 897 ADCK4, ARL3, BEST1, CC2D2A, CNGB1, DHDDS, EYS, HKDC1, IDH3A, IMPG1, KIF3B, NR2E3, POC5, PRPF8, RNU4-2, RNU6-1, RNU6-2, RNU6-8, RNU6-9, SLC7A14, SMG8, TMEM216 - -
02290 RP11 retinitis pigmentosa, type 11 (RP11) 600138 AD - - PRPF31 - -
02361 RP18 retinitis pigmentosa, type 18 (RP18) 601414 AD - - PRPF3 - -
06966 RP89 retinitis pigmentosa, type 89 618955 AD - - KIF3B - -
06009 SCN7 Neutropenia, severe congenital, 7, autosomal recessive 617014 AR - - CSF3R - -
06455 SLSN9 Senior-Loken syndrome 9 616629 AR - - TRAF3IP1 - -
06487 SNIBFIS Snijders Blok-Fisher syndrome 618604 AD 1 1 POU3F3 - -
05562 SPGF spermatogenic failure (SPGF) - - 96 94 ACRC, AURKC, C14orf39, C15orf43, CCDC62, CFAP58, DNAH1, DNAH2, DNALI1, DPY19L2, FANCM, FBXO43, GGN, IFT74, MEIOB, PDHA2, PLCZ1, PNLDC1, RNF212, RPL10L, 6 more - -
06897 SPGF52 spermatogenic failure, type 52 619202 AR - - C14orf39 - -
02568 UAN nephrolithiasis, uric acid, susceptibility to 605990 - - - ZNF365 - -
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