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Metadata
ID	DOID:0070426
Name	combined oxidative phosphorylation deficiency 53
Definition	A combined oxidative phosphorylation deficiency characterized by congenital-to-infantile onset, hypomyelination, microcephaly, liver dysfunction, and recurrent autoinflammation that has_material_basis_in homozygous mutation in the C2ORF69 gene on chromosome 2q33. https://pubmed.ncbi.nlm.nih.gov/34038740/, https://pubmed.ncbi.nlm.nih.gov/33945503/
Xrefs	MIM:619423
SKOS	exactMatch MIM:619423
Synonyms	COXPD53 [EXACT]
Parent Relationships	is_a combined oxidative phosphorylation deficiency is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance