Disease #00698

Official abbreviation -
Name Stickler sydrome, type I, nonsyndromic ocular
OMIM ID 609508
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 9
Phenotype entries for this disease 10
Associated with 1 gene COL2A1
Associated tissues -
Disease features -
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Individuals

9 entries on 1 page. Showing entries 1 - 9.
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00024337 - PubMed: Richards 2000, PubMed: Richards 2006 - - no (United Kingdom (Great Britain)) - - 0 - - Stickler sydrome, type I, nonsyndromic ocular Predominant ocular COL2A1 COL2A1 1 8 Isabelle Touitou
00024338 - PubMed: Richards 2000, PubMed: Richards 2006 - - no (United Kingdom (Great Britain)) - - 0 - - Stickler sydrome, type I, nonsyndromic ocular Predominant ocular COL2A1 COL2A1 1 7 Isabelle Touitou
00024339 - PubMed: Richards 2000, PubMed: Richards 2006 - - no (United Kingdom (Great Britain)) - - 0 - - Stickler sydrome, type I, nonsyndromic ocular Predominant ocular COL2A1 COL2A1 1 9 Isabelle Touitou
00024364 - - - - - ? (unknown) - - 0 - - Stickler sydrome, type I, nonsyndromic ocular vitreoretinal degeneration, Wagner COL2A1 COL2A1 1 1 Johan den Dunnen
00024365 - - - - - ? (unknown) - - 0 - - Stickler sydrome, type I, nonsyndromic ocular vitreoretinopathy with phalang; dysplasia, epiphysial COL2A1 COL2A1 1 1 Johan den Dunnen
00024457 - - - F - ? (unknown) - - 0 - - Stickler sydrome, type I, nonsyndromic ocular Predominantly ocular COL2A1 COL2A1 1 1 Isabelle Touitou
00024458 - - - F - ? (unknown) - - 0 - - Stickler sydrome, type I, nonsyndromic ocular Predominantly ocular COL2A1 COL2A1 1 1 Isabelle Touitou
00024505 - - - - ? (United Kingdom (Great Britain)) - - 0 - - Stickler sydrome, type I, nonsyndromic ocular Predominantly ocular COL2A1 COL2A1 1 2 Isabelle Touitou
00024508 - - - - ? (United Kingdom (Great Britain)) - - 0 - - Stickler sydrome, type I, nonsyndromic ocular Predominantly ocular COL2A1 COL2A1 1 2 Isabelle Touitou
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