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Metadata
ID DOID:0111472
Name combined oxidative phosphorylation deficiency 9
Definition A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPL3 on chromosome 3q22.1.
https://www.ncbi.nlm.nih.gov/pubmed/21786366
Xrefs

OMIM:614582

ORDO:319509

Synonyms

COXPD9 [EXACT]

Parent Relationships

is_a combined oxidative phosphorylation deficiency

is_a autosomal recessive disease

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