Visualize Submit Comment

Metadata
ID	DOID:0070430
Name	combined oxidative phosphorylation deficiency 57
Definition	A combined oxidative phosphorylation deficiency that has_material_basis_in compound heterozygous or homozygous mutation in the CRLS1 gene on chromosome 20p12. https://pubmed.ncbi.nlm.nih.gov/35147173/
Xrefs	MIM:620167
SKOS	exactMatch MIM:620167
Synonyms	COXPD57 [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