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Metadata
ID	DOID:0111499
Name	combined oxidative phosphorylation deficiency 37
Definition	A combined oxidative phosphorylation deficiency characterized by hypotonia, failure to thrive, liver disfunction, and neurodegeneration that has_material_basis_in homozygous or compound heterozygous mutation in MICOS13 on chromosome 19p13.3. https://www.ncbi.nlm.nih.gov/pubmed/27485409
Xrefs	OMIM:618329
Synonyms	COXPD37 [EXACT]
Parent Relationships	is_a combined oxidative phosphorylation deficiency is_a autosomal recessive disease