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Metadata
ID	DOID:0070425
Name	combined oxidative phosphorylation deficiency 52
Definition	A combined oxidative phosphorylation deficiency characterized by infantile onset, lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, and multisystem organ failure that has_material_basis_in homozygous mutation in the NFS1 gene on chromosome 20q11. https://pubmed.ncbi.nlm.nih.gov/24498631/, https://pubmed.ncbi.nlm.nih.gov/33457206/
Xrefs	MIM:619386
SKOS	exactMatch MIM:619386
Synonyms	COXPD52 [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