progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2

Preferred Label : progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2;

MeSH note : mutation in ANT1;

MeSH synonym : progressive external ophthalmoplegia, autosomal dominant, 2;

Details

Origin ID

C563750;

UMLS CUI

C1836460;

Automatic exact mappings (from CISMeF team)
- autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [DO Concept]
CISMeF manual mappings
- Progressive external ophthalmoplegia, autosomal dominant, type 2 [ICD-11 More detail]
Currated CISMeF NLP mapping
- Autosomal dominant progressive external ophthalmoplegia type 2 (disorder) [SNOMED CT concept]
- Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 [OMIM Phenotype]
MeSH term(s) associated for indexing
- ophthalmoplegia, chronic progressive external [MeSH Descriptor]
Record concept(s)
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 [OMIM Phenotype]
- Progressive external ophthalmoplegia, autosomal dominant, type 2 [ICD-11 More detail]

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