Metadata | |
---|---|
ID | DOID:0111490 |
Name | combined oxidative phosphorylation deficiency 26 |
Definition | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT5 gene on chromosome 14q23.1. https://www.ncbi.nlm.nih.gov/pubmed/26189817 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
COXPD26 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |