combined oxidative phosphorylation deficiency 37 Disease Ontology Browser

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combined oxidative phosphorylation deficiency 37 (DOID:0111499)
Alliance: disease page
Synonyms: COXPD37
Alt IDs: OMIM:618329
Definition: A combined oxidative phosphorylation deficiency characterized by hypotonia, failure to thrive, liver disfunction, and neurodegeneration that has_material_basis_in homozygous or compound heterozygous mutation in MICOS13 on chromosome 19p13.3.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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