All diseases

20 entries on 1 page. Showing entries 1 - 20.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00698 - Stickler sydrome, type I, nonsyndromic ocular 609508 - - - COL2A1 - -
00699 - dysplasia, Czech 609162 - - - COL2A1 - -
00971 - vitreoretinopathy, with phalangeal epiphyseal dysplasia - - - - COL2A1 - -
04152 - spondyloarthropathy - - - - COL2A1 - -
04256 - dysspondylo-enchondromatose - - - - COL2A1 - -
00688 ACG-2 achondrogenesis, type II (hypochondrogenesis, ACG-2) 200610 - - - COL2A1 - -
00696 ANFH necrosis, avascular, femoral head (ANFH) 608805 - - - COL2A1 - -
00691 EDMMD dysplasia, epiphyseal, multiple, with myopia and deafness (EDMMD) 132450 - - - COL2A1 - -
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 - -
00687 Kniest dysplasia, Kniest 156550 - - - COL2A1 - -
00697 LCPD Legg-Calve-Perthes disease (LCPD) 150600 - - - COL2A1 - -
00693 OSCDP osteoarthritis, with mild chondrodysplasia (OSCDP) 604864 - - - COL2A1 - -
00695 OSMED dysplasia, otospondylomegaepiphyseal (OSMED) 215150 - - - COL11A2, COL2A1 - -
00694 PLSDT dysplasia, skeletal, platyspondylic, Torrance type (PLSDT) 151210 - - - COL2A1 - -
00692 SED dysplasia, spondyloperipheral (SED) 271700 - - - COL2A1 - -
00689 SEDC dysplasia, spondyloepiphyseal, congenita (SEDC) 183900 - - - COL2A1 - -
00970 SEDN dysplasia, spondyloperipheral, Namaqualand type (SEDN) - - - - COL2A1 - -
04261 SEDT dysplasia, spondyloepiphyseal, tarda (SEDT) - - - - COL2A1 - -
00690 SEMD dysplasia, spondyloepimetaphyseal, Strudwick type (SEMD) 184250 - - - COL2A1 - -
00686 STL-1 Stickler syndrome, type I (STL-1) 108300 - - - COL2A1 - -
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