All diseases

24 entries on 1 page. Showing entries 1 - 24.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00729 - Symphalangism, proximal 185800 - - - GDF5, NOG - -
01032 - Acromesomelic dysplasia, Hunter-Thompson type 201250 - - - GDF5 - -
01034 - Fibular hypoplasia and complex brachydactyly 228900 - - - GDF5 - -
01590 - Trichomegaly 190330 - - - FGF5 - -
01727 - Temtamy syndrome 218340 - - - C12orf57 - -
02354 - stroke, ischemic, susceptibility to 601367 - - - ALOX5AP, F2, F5, NOS3, PRKCH - -
03892 - Symphalangism, proximal, 1b 615298 - - - GDF5 - -
00191 AMDG chondrodysplasia, acromesomelic, type Grebe (AMDG) 200700 - - - BMPR1B, GDF5 - -
03821 BD-A1C brachydactyly, type A1, C (BD-A1C) 615072 - - - GDF5 - -
00184 BD-A2 brachydactyly, type A2 (BD-A2) 112600 - - - BMP2, BMPR1B, GDF5 - -
01033 BD-C brachydactyly, type C (BD-C) 113100 - - - GDF5 - -
02320 BDCHS Budd-Chiari syndrome (BDCHS) 600880 - - - F5, JAK2 - -
03969 CILD-26 dyskinesia, ciliary, primary, 26 (CILD-26) 615500 - - - C21orf59 - -
01779 F5D factor V deficiency (F5D) 227400 - - - F5 - -
03105 IBD-14 bowel disease, inflammatory, type 14 (IBD-14) 612245 - - - IRF5 - -
00139 ID intellectual disability (ID) - - - - AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 515 more - -
02559 LORD retinal degeneration, late-onset (LORD) 605670 - - - C1QTNF5 - -
01036 OS-5 sosteoarthritis, susceptibility 5 (OS-5) 612400 - - - GDF5 - -
03371 RP-58 retinitis pigmentosa, type 58 (RP-58) 613617 - - - ZNF513 - -
03625 RPRGL-1 pregnancy loss, recurrent, susceptibility to, type 1 (RPRGL-1) 614389 - - - F5 - -
03106 SLEB-10 lupus erythematosus, systemic, type 10 (SLEB-10) 612251 - - - IRF5 - -
00213 SPG-10 paraplegia, spastic, autosomal dominant, type 10 (SPG-10) 604187 - - - KIF5A - -
01035 SYNS-2 synostoses syndrome, multiple, type 2 (SYNS-2) 610017 - - - GDF5 - -
01582 THPH-2 thrombophilia, type 2, F5-related (THPH-2) 188055 - - - F5 - -
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