Mitochondrial Complex V (Atp Synthase) Deficiency Nuclear Type 6
Disease ID: disease_node_16792
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| Dbxref | MIM:618683 |
|---|---|
| Subclassof | DOID_0111143 |
| Data Source | DOID |
| Synonyms | MC5DN6 |
| Doid Label | mitochondrial complex V (ATP synthase) deficiency nuclear type 6 |
| Doid Description | A mitochondrial complex V (ATP synthase) deficiency characterized by episodic regression of gross motor skills beginning in early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5MD gene on chromosome 10q24.33. |
| Disease Node Id | disease_node_16792 |
| Doid Id | DOID_0111749 |
| Label | Mitochondrial Complex V (Atp Synthase) Deficiency Nuclear Type 6 |
- Outgoing r'ship
SUBCLASS_OFto/from Mitochondrial Complex V (Atp Synthase) Deficiency(ID:disease_node_16791) (Disease)