All diseases

38 entries on 1 page. Showing entries 1 - 38.
Legend   How to query  

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
02354 - stroke, ischemic, susceptibility to 601367 Mu 2 2 ALOX5AP, F2, F5, NOS3, PRKCH - -
05557 ALS25 sclerosis, lateral, amyotrophic, type 25 (ALS25) 617921 AD - - KIF5A - autosomal dominant
06885 AMD dysplasia, acromesomelic - - 2 2 BMPR1B, GDF5, NPR2, PRKG2 - -
00191 AMD2A dysplasia, acromesomelic, type 2A, Grebe 200700 AR 3 3 GDF5 - -
01034 AMD2B dysplasia, acromesomelic, type 2B, Du Pan syndrome 228900 AR - - GDF5 - -
01032 AMD2C dysplasia, acromesomelic, type 2C, Hunter-Thompson 201250 AR - - GDF5 - -
03821 BDA1C brachydactyly, type A1, C (BD-A1C) 615072 AR - - GDF5 - -
00184 BDA2 brachydactyly, type A2 (BD-A2) 112600 AD - - BMP2, BMPR1B, GDF5 - -
01033 BDC brachydactyly, type C (BD-C) 113100 AD 3 1 GDF5 - -
02320 BDCHS Budd-Chiari syndrome (BDCHS) 600880 AR - - F5, JAK2 - -
00332 CILD dyskinesia, ciliary, primary (CILD) - - 219 211 C21orf59, CCDC164, CCDC39, DNAAF3, DNAH1, DNAH5, HEATR2, HYDIN, TTC12 - -
03969 CILD26 dyskinesia, ciliary, primary, 26 (CILD-26) 615500 AR - - C21orf59 - -
07110 DENNED Dentici-Novelli neurodevelopmental syndrome 619877 AR 1 1 ZNF526 - -
06188 EORVA Ophthalmoplegia, external, with rib and vertebral anomalies 618155 AR - - MYF5 - -
03105 IBD14 bowel disease, inflammatory, type 14 (IBD-14) 612245 - - - IRF5 - -
00139 ID intellectual disability (ID) - - 2694 2376 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
00201 INFM infertility, male (INFM) - - 261 225 ACTL9, AKAP3, ARMC12, AURKC, C12orf55, CCDC34, CFAP61, CXorf59, DNHD1, DPY19L2, FKBP6, M1AP, MAATS1, MNS1, MSH4, MSH5, SSX1 - -
02559 LORD retinal degeneration, late-onset (LORD) 605670 AD - - C1QTNF5 - -
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 - -
06517 MC1DN16 Mi complex I deficiency, nuclear type 16 618238 AR - - NDUFAF5 - -
05661 MRX107 mental retardation, X-linked, type 107 (MRX107) 301013 XL - - CXorf56 - -
00187 MRX;IDX mental retardation, X-linked (MRX, intellectual disability (IDX)) - - 1921 1900 ARX, CXorf56, IL1RAPL1 - X-linked
05556 NEIMY myoclonus, intractable, neonatal (NEIMY) 617235 AD - - KIF5A - autosomal dominant
05296 OI osteogenesis imperfecta - - 4591 1414 BMP1, CCDC134, COL1A1, COL1A2, CREB3L1, CRTAP, FAM46A, FKBP10, IFITM5, KDELR2, KIF5B, MBTPS2, MESDC2, P3H1, PHLDB1, SERPINF1, SERPINH1, SP7, SPARC, TMEM38B, WNT1 - -
01036 OS5 sosteoarthritis, susceptibility 5 (OS-5) 612400 - - - GDF5 - -
01779 PARAHEMOPHILIA deficiency, factor V (F5D) 227400 AR 121 121 F5 - -
03371 RP58 retinitis pigmentosa, type 58 (RP58) 613617 AR - - ZNF513 - -
03625 RPRGL pregnancy loss, recurrent, susceptibility to (RPRGL) - - 7 7 ANXA5, F2, F5 - -
05456 RPRGL1 pregnancy loss, recurrent, susceptibility to, type 1 (RPRGL-1) 614389 AD - - F5 - -
03106 SLEB10 lupus erythematosus, systemic, type 10 (SLEB-10) 612251 - - - IRF5 - -
00213 SPG10 paraplegia, spastic, autosomal dominant, type 10 (SPG-10) 604187 AD 8 7 KIF5A - -
06940 SPGFX3 spermatogenic failure, X-linked, type 3 301059 XLR - - CXorf59 - -
00729 SYM symphalangism, proximal (SYM) - - 12 11 GDF5, NOG - -
03892 SYM1B symphalangism, proximal, type 1B (SYM1B) 615298 AD - - GDF5 - -
01035 SYNS2 synostoses syndrome, multiple, type 2 (SYNS-2) 610017 AD 1 - GDF5 - -
01590 TCMGLY trichomegaly (TCMGLY) 190330 AR 3 2 FGF5 - -
01727 TEMTYS Temtamy syndrome 218340 AR 5 5 C12orf57 - -
01582 THPH2 thrombophilia, due to activated protein C resistance (THPH2) 188055 AD 7 7 F5 - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.