| Metadata | |
|---|---|
| ID | DOID:0060331 |
| Name | mitochondrial complex V (ATP synthase) deficiency nuclear type 2 |
| Definition | A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21. http://omim.org/entry/614052 |
| Xrefs |
SNOMEDCT_US_2023_03_01:718212006 |
| Subsets |
DO_rare_slim |
| Synonyms |
MC5DN2 [EXACT] neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has basis in some structural_variant |