Combined Oxidative Phosphorylation Deficiency 33

Preferred Label : Combined Oxidative Phosphorylation Deficiency 33;

NCIt synonyms : COXPD33;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the C1QBP gene, encoding complement component 1 Q subcomponent-binding protein, mitochondrial. The phenotype is highly variable.;

NCI Metathesaurus CUI : CL786436;

Details

Origin ID

C174440;

UMLS CUI

C4540209;

Currated CISMeF NLP mapping
- Combined oxidative phosphorylation deficiency 33 [OMIM Phenotype]
- combined oxidative phosphorylation deficiency 33 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined oxidative phosphorylation deficiency 33 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- C1QBP Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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