Stickler syndrome, type I, nonsyndromic ocular

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;

Détails

Origin ID

609508;

UMLS CUI

C1836080;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant rhegmatogenous retinal detachment [ORDO Disease]
- Autosomal dominant rhegmatogenous retinal detachment [ICD-11 More detail]
- Autosomal dominant rhegmatogenous retinal detachment (disorder) [SNOMED CT concept]
- rhegmatogenous retinal detachment, autosomal dominant [MeSH Supplementary Concept]
- rhegmatogenous retinal detachment, autosomal dominant [MeSH concept]
Currated CISMeF NLP mapping
- stickler syndrome, type I, nonsyndromic ocular [MeSH concept]
- stickler syndrome, type I, nonsyndromic ocular [MeSH Supplementary Concept]
Genes related to phenotype
- Collagen, type II, alpha-1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hearing impairment [HPO term]
- Midface retrusion [HPO term]
- Myopia [HPO term]
- Optically empty vitreous [HPO term]
- Rhegmatogenous retinal detachment [HPO term]
ORDO concept(s)
- Autosomal dominant rhegmatogenous retinal detachment [ORDO Disease]
- Stickler syndrome [ORDO Disease]
- Stickler syndrome type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- stickler syndrome, type I, nonsyndromic ocular [MeSH Supplementary Concept]
- stickler syndrome, type I, nonsyndromic ocular [MeSH concept]

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