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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/609060
http://purl.bioontology.org/ontology/OMIM/609060
|
|---|---|
| Preferred Name | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 |
| Synonyms |
HEPATOENCEPHALOPATHY, EARLY FATAL PROGRESSIVE
COXPD1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
HEPATOENCEPHALOPATHY, EARLY FATAL PROGRESSIVE
COXPD1
|
|---|---|
| prefLabel | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1
|
| Gene Symbol |
GFM
GFM1
EFG1
COXPD1
|
| Scope Statement | Four patients have been reported (as of July 2011) [MISCELLANEOUS]
Death within first months or years of life [MISCELLANEOUS]
Onset at birth [MISCELLANEOUS]
Caused by mutation in the mitochondrial elongation factor G1 gene (GFM1, 606639.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 3q25.32
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 609060
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1836797
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |