combined oxidative phosphorylation deficiency 56 Disease Ontology Browser

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combined oxidative phosphorylation deficiency 56 (DOID:0070429)
Alliance: disease page
Synonyms: COXPD56
Alt IDs: OMIM:620139
Definition: A combined oxidative phosphorylation deficiency characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis that has_material_basis_in compound heterozygous mutation in the TAMM41 gene on chromosome 3p25.

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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