stickler syndrome, type I, nonsyndromic ocular

Preferred Label : stickler syndrome, type I, nonsyndromic ocular;

MeSH note : mutation in COL2A1;

MeSH synonym : stickler syndrome, atypical; stickler syndrome, type I, predominantly ocular;

Details

Origin ID

C563709;

UMLS CUI

C1836080;

Currated CISMeF NLP mapping
- Stickler syndrome, type I, nonsyndromic ocular [OMIM Phenotype]
MeSH term(s) associated for indexing
- eye diseases, hereditary [MeSH Descriptor]
Record concept(s)
- stickler syndrome, type I, nonsyndromic ocular [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Stickler syndrome, type I, nonsyndromic ocular [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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