| Metadata | |
|---|---|
| ID | DOID:0111494 |
| Name | combined oxidative phosphorylation deficiency 4 |
| Definition | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TUFM gene on chromosome 16p11.2. https://www.ncbi.nlm.nih.gov/pubmed/17160893 |
| Xrefs |
SNOMEDCT_US_2023_03_01:766876004 |
| Subsets |
DO_rare_slim |
| Synonyms |
COXPD4 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |