combined oxidative phosphorylation deficiency 55

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Summary

Literature (0)

DOID:0070428 - combined oxidative phosphorylation deficiency 55

Disease Ontology Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POLRMT gene on chromosome 19p13.

Synonyms: COXPD55,

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

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

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

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