| Metadata | |
|---|---|
| ID | DOID:0111486 |
| Name | combined oxidative phosphorylation deficiency 3 |
| Definition | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TSFM gene on chromosome 12q14.1. https://www.ncbi.nlm.nih.gov/pubmed/17033963, https://www.ncbi.nlm.nih.gov/pubmed/25037205 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
concentric cardiomyopathy, hypotonia, and lactic acidosis [EXACT] COXPD3 [EXACT] encephalomyopathy, respiratory failure, and lactic acidosis [EXACT] fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 [EXACT] Fatal mitochondrial disease due to COXPD3 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |