combined oxidative phosphorylation deficiency 15

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Echinobase

Summary

Literature (0)

DOID:0111491 - combined oxidative phosphorylation deficiency 15

Disease Ontology Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation] in the MTFMT gene on chromosome 15q22.31.

Synonyms: COXPD15

Echinobase 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:614947 - combined oxidative phosphorylation deficiency 15; coxpd15

MIM:614947 - combined oxidative phosphorylation deficiency 15; coxpd15

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)