Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619025
http://purl.bioontology.org/ontology/OMIM/619025
|
|---|---|
| Preferred Name | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50 |
| Synonyms |
COXPD50
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | COXPD50
|
|---|---|
| prefLabel | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50
|
| Gene Symbol |
COXPD50
MRPS25
|
| Scope Statement | One patient has been reported (last curated September 2020) [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
Caused by mutation in the mitochondrial ribosomal protein S25 gene (MRPS25, 611987.0001) [MOLECULAR BASIS]
Progressive disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 3p25
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 619025
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5436623
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |