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DOID:0111469 - combined oxidative phosphorylation deficiency 16
Disease Ontology Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compund heterozygous mutation in the MRPL44 gene on chromosome 2q36.1.
Synonyms: COXPD16, infantile hypertrophic cardiomyopathy due to MRPL44 deficiency,
Xenbase Genes
![Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries](img/icons/info1.png)
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee