ZFIN Human Disease: combined oxidative phosphorylation deficiency 33

OBO ID: DOID:0111495

Term Name:	combined oxidative phosphorylation deficiency 33		Search Ontology:
Synonyms:	COXPD33
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
References:	OMIM:617713
Ontology:	Human Disease ( DOID:0111495 )

Relationships

is a type of:	autosomal recessive disease combined oxidative phosphorylation deficiency autosomal recessive disease combined oxidative phosphorylation deficiency Show first 5 Terms

OTHER combined oxidative phosphorylation deficiency 33 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
C1QBP	c1qbp	Combined oxidative phosphorylation deficiency 33	617713

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None