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Metadata
ID DOID:0070424
Name combined oxidative phosphorylation deficiency 44
Definition A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FASTKD2 gene on chromosome 2q33.
https://pubmed.ncbi.nlm.nih.gov/31944455/, https://pubmed.ncbi.nlm.nih.gov/36531759/
Xrefs

MIM:618855

ORDO:166105

SKOS

exactMatch ORDO:166105

exactMatch MIM:618855

Subsets

DO_rare_slim

Synonyms

COXPD44 [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

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