combined oxidative phosphorylation deficiency 18 Disease Ontology Browser

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combined oxidative phosphorylation deficiency 18 (DOID:0111484)
Alliance: disease page
Synonyms: COXPD18; growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Alt IDs: OMIM:615578, ORDO:391348
Definition: A combined oxidative phosphorylation deficiency characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26.11.

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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