| Metadata | |
|---|---|
| ID | DOID:0111474 |
| Name | combined oxidative phosphorylation deficiency 1 |
| Definition | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM1 gene on chromosome 3q25.32. https://ghr.nlm.nih.gov/condition/combined-oxidative-phosphorylation-deficiency-1 |
| Xrefs | |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
COXPD1 [EXACT] early fatal progressive hepatoencephalopathy [EXACT] hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [EXACT] hepatoencephalopathy due to COXPD1 [EXACT] |
| Parent Relationships |