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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/613559
http://purl.bioontology.org/ontology/OMIM/613559
|
|---|---|
| Preferred Name | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 |
| Synonyms |
COXPD7
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | COXPD7
|
|---|---|
| prefLabel | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
|
| Gene Symbol |
SPG55
MTRFR
COXPD7
C12orf65
|
| Scope Statement | Caused by mutation in the mitochondrial translation release factor in rescue gene (MTRFR, 613541.0001) [MOLECULAR BASIS]
Onset in early childhood [MISCELLANEOUS]
Two families have been reported (September 2010) [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 12q24.31
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 613559
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3150801
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |