Mitochondrial Complex V (Atp Synthase) Deficiency Nuclear Type 2
Disease ID: disease_node_16800
Connections displayed (default: 10).
Loading graph...
| Dbxref | GARD:12965, MIM:614052, ORDO:1194, SNOMEDCT_US_2023_03_01:718212006, UMLS_CUI:C4273660 |
|---|---|
| Subclassof | DOID_0111143 |
| Data Source | DOID |
| Synonyms | MC5DN2, neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency |
| Doid Label | mitochondrial complex V (ATP synthase) deficiency nuclear type 2 |
| Doid Description | A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21. |
| Disease Node Id | disease_node_16800 |
| Doid Id | DOID_0060331 |
| Disease Has Basis In | SO_0001537 |
| Label | Mitochondrial Complex V (Atp Synthase) Deficiency Nuclear Type 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Mitochondrial Complex V (Atp Synthase) Deficiency(ID:disease_node_16791) (Disease)