fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement

Preferred Label : fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement;

MeSH note : mutation in TUBB3;

MeSH synonym : CFEOM3A;

Details

Origin ID

C567572;

UMLS CUI

C2748801;

Automatic exact mappings (from CISMeF team)
- Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement [OMIM Phenotype]
- TUBB3 wt Allele [NCIt concept]
- tubulin beta 3 class III [ORDO Gene]
MeSH term(s) associated for indexing
- eye diseases, hereditary [MeSH Descriptor]
- fibrosis [MeSH Descriptor]
- ocular motility disorders [MeSH Descriptor]
Record concept(s)
- fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement [OMIM Phenotype]

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