combined oxidative phosphorylation deficiency 44

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Summary

Literature (0)

DOID:0070424 - combined oxidative phosphorylation deficiency 44

Disease Ontology Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FASTKD2 gene on chromosome 2q33.

Synonyms: COXPD44

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

MIM:

MIM:618855 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44

MIM:618855 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44

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)