combined oxidative phosphorylation deficiency 33

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Summary

Literature (0)

DOID:0111495 - combined oxidative phosphorylation deficiency 33

Disease Ontology Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the C1QBP gene on chromosome 17p13.2.

Synonyms: COXPD33

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: c1qbp

MIM:

MIM:617713 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33

MIM:617713 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), combined oxidative phosphorylation deficiency (is_a)