myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay

Preferred Label : myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay;

MeSH note : asociated with mutation in GFER;

MeSH synonym : mitochondrial complex deficiency, combined; myopathy with cataract and combined respiratory chain deficiency;

Details

Origin ID

C567769;

UMLS CUI

C2751320;

Currated CISMeF NLP mapping
- Myopathy, mitochondrial progressive, with congenital cataract and developmental delay [OMIM Phenotype]
MeSH term(s) associated for indexing
- cataract [MeSH Descriptor]
- developmental disabilities [MeSH Descriptor]
- hearing loss [MeSH Descriptor]
- mitochondrial myopathies [MeSH Descriptor]
Record concept(s)
- myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome [ORDO Disease]
- Myopathy, mitochondrial progressive, with congenital cataract and developmental delay [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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