| 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 |