fibrosis of extraocular muscles, congenital, 2

Preferred Label : fibrosis of extraocular muscles, congenital, 2;

MeSH note : mutation in ARIX;

MeSH synonym : CFEOM2; fibrosis of extraocular muscles, congenital, autosomal recessive;

Details

Origin ID

C566587;

UMLS CUI

C1865915;

Currated CISMeF NLP mapping
- Fibrosis of extraocular muscles, congenital, 2 [OMIM Phenotype]
MeSH term(s) associated for indexing
- blepharoptosis [MeSH Descriptor]
- eye diseases, hereditary [MeSH Descriptor]
- fibrosis [MeSH Descriptor]
- ophthalmoplegia [MeSH Descriptor]
Record concept(s)
- fibrosis of extraocular muscles, congenital, 2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fibrosis of extraocular muscles, congenital, 2 [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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