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 | |
SKOS |
exactMatch ORDO:166105 exactMatch MIM:618855 |
Subsets |
DO_rare_slim |
Synonyms |
COXPD44 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |