combined oxidative phosphorylation deficiency 49

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Summary

Literature (0)

DOID:0112110 - combined oxidative phosphorylation deficiency 49

Disease Ontology Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MIEF2 gene on chromosome 17p11.2.

Synonyms: COXPD49

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:619024 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49

MIM:619024 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49

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)