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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616430
http://purl.bioontology.org/ontology/OMIM/616430
|
|---|---|
| Preferred Name | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 |
| Synonyms |
COXPD25
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | COXPD25
|
|---|---|
| prefLabel | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25
|
| Gene Symbol |
COXPD25
MARS2
SPAX3
|
| Scope Statement | Two sibs have been reported (last curated June 2015) [MISCELLANEOUS]
Caused by mutation in the methionyl-tRNA synthetase 2 gene (MARS2, 609728.0004) [MOLECULAR BASIS]
Onset at birth [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 2q33.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 616430
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5567742
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |