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Metadata
ID DOID:0111495
Name combined oxidative phosphorylation deficiency 33
Definition A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the C1QBP gene on chromosome 17p13.2.
https://www.ncbi.nlm.nih.gov/pubmed/28942965
Xrefs

MIM:617713

Synonyms

COXPD33 [EXACT]

Parent Relationships

is_a combined oxidative phosphorylation deficiency

is_a autosomal recessive disease

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