combined oxidative phosphorylation deficiency 30

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Summary

Literature (0)

DOID:0111471 - combined oxidative phosphorylation deficiency 30

Disease Ontology Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT10C gene on chromosome 3q12.3.

Synonyms: COXPD30,

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

: trmt10c

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)