Details of Disease

General Information of Disease (ID: DIST3E07)

Disease Name Stickler syndrome, type I, nonsyndromic ocular
Synonyms Stickler syndrome, atypical; rhegmatogenous retinal detachment, autosomal dominant; Stickler syndrome, type I, predominantly ocular; Stickler syndrome, type i, nonsyndromic ocular
Definition Editor note: check this
Disease Hierarchy
DIST5L4S: Stickler syndrome type 1
DIST3E07: Stickler syndrome, type I, nonsyndromic ocular
Disease Identifiers
MONDO ID
MONDO_0012287
MESH ID
C563709
UMLS CUI
C1836080
OMIM ID
609508
MedGen ID
322820

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COL2A1 OT5E59C8 Definitive Autosomal dominant [1]
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References

1 Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome. Hum Mutat. 2008 Jan;29(1):83-90. doi: 10.1002/humu.20603.