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Metadata
ID DOID:0111479
Name combined oxidative phosphorylation deficiency 8
Definition A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in AARS2 on chromosome 6p21.1.
https://www.ncbi.nlm.nih.gov/pubmed/21549344
Xrefs

OMIM:614096

ORDO:319504

Synonyms

COXPD8 [EXACT]

Parent Relationships

is_a combined oxidative phosphorylation deficiency

is_a autosomal recessive disease

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