Mitochondrial Complex V (Atp Synthase) Deficiency Nuclear Type 5
Disease ID: disease_node_16795
Connections displayed (default: 10).
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| Dbxref | MIM:618120 |
|---|---|
| Subclassof | DOID_0111143, DOID_0050737 |
| Data Source | DOID |
| Synonyms | MC5DN5 |
| Doid Label | mitochondrial complex V (ATP synthase) deficiency nuclear type 5 |
| Doid Description | A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous mutation in the ATP5F1D gene on chromosome 19p13.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16795 |
| Doid Id | DOID_0070463 |
| Label | Mitochondrial Complex V (Atp Synthase) Deficiency Nuclear Type 5 |
- Outgoing r'ship
SUBCLASS_OFto/from Mitochondrial Complex V (Atp Synthase) Deficiency(ID:disease_node_16791) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)