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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/613076
http://purl.bioontology.org/ontology/OMIM/613076
|
|---|---|
| Preferred Name | MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT AND DEVELOPMENTAL DELAY |
| Synonyms |
MITOCHONDRIAL COMPLEX DEFICIENCY, COMBINED
MYOPATHY WITH CATARACT AND COMBINED RESPIRATORY CHAIN DEFICIENCY
MPMCD
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MITOCHONDRIAL COMPLEX DEFICIENCY, COMBINED
MYOPATHY WITH CATARACT AND COMBINED RESPIRATORY CHAIN DEFICIENCY
MPMCD
|
|---|---|
| prefLabel | MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT AND DEVELOPMENTAL DELAY
|
| Gene Symbol |
GFER
ALR
ERV1
MPMCD
|
| Scope Statement | Caused by mutation in the growth factor, ERV1-like gene (GFER, 600924.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 16p13.3-p13.12
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 613076
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2751320
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |