Myopathy, mitochondrial progressive, with congenital cataract and developmental delay

Preferred Label : Myopathy, mitochondrial progressive, with congenital cataract and developmental delay;

Symbol : MPMCD;

CISMeF acronym : MPMCD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mitochondrial complex deficiency, combined; Myopathy with cataract and combined respiratory chain deficiency;

Prefixed ID : #613076;

Details

Origin ID

613076;

UMLS CUI

C2751320;

Automatic exact mappings (from CISMeF team)
- myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay [MeSH concept]
Currated CISMeF NLP mapping
- myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay [MeSH Supplementary Concept]
Genes related to phenotype
- Growth factor, erv1-like [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Decreased activity of mitochondrial respiratory chain [HPO term]
- Developmental cataract [HPO term]
- Global developmental delay [HPO term]
- Myopathy [HPO term]
- Sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome [ORDO Disease]
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, hearing loss, and developmental delay [MeSH Supplementary Concept]
- myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay [MeSH concept]
Validated automatic mappings to BTNT
- Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

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