combined oxidative phosphorylation deficiency 48

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Summary

Literature (0)

DOID:0112112 - combined oxidative phosphorylation deficiency 48

Disease Ontology Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NSUN3 gene on chromosome 3q11.2.

Synonyms: COXPD48

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:619012 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48

MIM:619012 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48

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)