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Metadata
ID DOID:0111483
Name combined oxidative phosphorylation deficiency 2
Definition A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS16 on chromosome 10q22.2.
https://www.ncbi.nlm.nih.gov/pubmed/15505824
Xrefs

OMIM:610498

ORDO:254920

Synonyms

agenesis of corpus callosum with dysmorphism and fatal lactic acidosis [EXACT]

COXPD2 [EXACT]

Parent Relationships

is_a combined oxidative phosphorylation deficiency

is_a autosomal recessive disease

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