All diseases

22 entries on 1 page. Showing entries 1 - 22.
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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 AD 10 10 COL2A1 - -
00699 - dysplasia, Czech 609162 AD 5 4 COL2A1 - -
00971 - vitreoretinopathy, with phalangeal epiphyseal dysplasia - - 0 0 COL2A1 - -
04256 - dysspondylo-enchondromatose - - 1 1 COL2A1 - -
05479 ACG achondrogenesis (ACG) - - 1 1 COL2A1, SLC26A2, TRIP11 - -
00688 ACG2 achondrogenesis, type II (hypochondrogenesis, ACG-2) 200610 AD 59 57 COL2A1 - autosomal dominant
00696 ANFH1 necrosis, avascular, femoral head (ANFH) 608805 AD 4 4 COL2A1 - -
00691 EDMMD dysplasia, epiphyseal, multiple, with myopia and deafness (EDMMD) 132450 AD 0 0 COL2A1 - -
00139 ID intellectual disability (ID) - - 2195 1894 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 540 more - -
00687 Kniest dysplasia, Kniest 156550 AD 22 20 COL2A1 - -
00697 LCPD Legg-Calve-Perthes disease (LCPD) 150600 AD 4 4 COL2A1 - -
00693 OSCDP osteoarthritis, with mild chondrodysplasia (OSCDP) 604864 AD 30 29 COL2A1 - -
00695 OSMEDB Otospondylomegaepiphyseal dysplasia, autosomal recessive 215150 AR 2 1 COL11A2, COL2A1 - -
00694 PLSDT dysplasia, skeletal, platyspondylic, Torrance type (PLSDT) 151210 AD 15 14 COL2A1 - -
00692 SED dysplasia, spondyloperipheral (SED) 271700 AD 40 37 COL2A1 - -
00689 SEDC dysplasia, spondyloepiphyseal, congenita (SEDC) 183900 AD 141 129 COL2A1 - -
00970 SEDN dysplasia, spondyloperipheral, Namaqualand type (SEDN) - - 0 0 COL2A1 - -
06164 SEDSTN Spondyloepiphyseal dysplasia, Stanescu type 616583 AD 0 0 COL2A1 - -
04261 SEDT dysplasia, spondyloepiphyseal, tarda (SEDT) - - 1 1 COL2A1 - -
00690 SEMDSTWK dysplasia, spondyloepimetaphyseal, Strudwick type (SEMDSTWK) 184250 AD 28 27 COL2A1 - -
04152 SPDA spondyloarthropathy (SPDA, ankylosing spondylitis) - - 15 15 COL2A1 - associated with
00686 STL1 Stickler syndrome, type I (STL-1) 108300 AD 474 468 COL2A1 - -
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