Mitochondrial Complex V (Atp Synthase) Deficiency Mitochondrial Type 1
Disease ID: disease_node_16793
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| Dbxref | MIM:500015 |
|---|---|
| Subclassof | DOID_0111143 |
| Data Source | DOID |
| Synonyms | MC5DM1 |
| Doid Label | mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 |
| Doid Description | A mitochondrial complex V (ATP synthase) deficiency characterized by lactic acidemia, hypotonia, and neurodegenerative disease that has_material_basis_in mutation in mitochondrial gene MTATP6. |
| Disease Node Id | disease_node_16793 |
| Doid Id | DOID_0111748 |
| Label | Mitochondrial Complex V (Atp Synthase) Deficiency Mitochondrial Type 1 |
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SUBCLASS_OFto/from Mitochondrial Complex V (Atp Synthase) Deficiency(ID:disease_node_16791) (Disease)