combined oxidative phosphorylation deficiency 36

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Summary

Literature (0)

DOID:0111482 - combined oxidative phosphorylation deficiency 36

Disease Ontology Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS2 gene on chromosome 9q34.3.

Synonyms: COXPD36

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

: mrps2

MIM:

MIM:617950 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36; COXPD36

MIM:617950 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36; COXPD36

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)