Preferred Label : Stickler syndrome, type I, nonsyndromic ocular;
CISMeF acronym : DRRD;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Stickler syndrome, type I, predominantly ocular; Stickler syndrome, atypical;
Included titles and symbols : Rhegmatogenous retinal detachment, autosomal dominant; DRRD;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the collagen, type II, alpha-1 gene (COL2A1, 120140.0034);
Prefixed ID : #609508;
Origin ID : 609508;
UMLS CUI : C1836080;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)