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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/617713
http://purl.bioontology.org/ontology/OMIM/617713
|
|---|---|
| Preferred Name | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 |
| Synonyms |
COXPD33
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | COXPD33
|
|---|---|
| prefLabel | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
|
| Gene Symbol |
C1QBP
COXPD33
HABP1
|
| Scope Statement | Adult onset (in some patients) [MISCELLANEOUS]
Four unrelated patients have been reported (last curated October 2017) [MISCELLANEOUS]
Neonatal onset and death in infancy (in some patients) [MISCELLANEOUS]
Caused by mutation in the complement component C1q-binding protein gene (C1QBP, 601269.0001) [MOLECULAR BASIS]
Highly variable phenotype [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 17p13.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 617713
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4540209
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |