Mitochondrial Complex V (Atp Synthase) Deficiency Nuclear Type 4B
Disease ID: disease_node_16797
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| Dbxref | MIM:615228 |
|---|---|
| Subclassof | DOID_0060333, DOID_0050737 |
| Data Source | DOID |
| Synonyms | MC5DN4B |
| Doid Label | mitochondrial complex V (ATP synthase) deficiency nuclear type 4B |
| Doid Description | A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by onset at birth of horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation, followed by fatal encephalopathy that has_material_basis_in autosomal recessive inheritance. |
| Existence Starts During | HP_0003577 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16797 |
| Doid Id | DOID_0070462 |
| Label | Mitochondrial Complex V (Atp Synthase) Deficiency Nuclear Type 4B |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Mitochondrial Complex V (Atp Synthase) Deficiency Nuclear Type 4(ID:disease_node_16796) (Disease)