Metadata | |
---|---|
ID | DOID:0111491 |
Name | combined oxidative phosphorylation deficiency 15 |
Definition | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation] in the MTFMT gene on chromosome 15q22.31. https://www.ncbi.nlm.nih.gov/pubmed/21907147 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
COXPD15 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |