Infantile Parkinsonism-Dystonia 2
Disease ID: disease_node_16711
Connections displayed (default: 10).
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| Dbxref | GARD:13594, MIM:618049, SNOMEDCT_US_2023_03_01:717942003, UMLS_CUI:C4303546, UMLS_CUI:C4747991 |
|---|---|
| Subclassof | DOID_480, DOID_0050737 |
| Data Source | DOID |
| Synonyms | Brain dopamine-serotonin vesicular transport disease, PKDYS2 |
| Doid Label | infantile parkinsonism-dystonia 2 |
| Doid Description | A movement disease characterized by parkinsonism, dystonia, poor fine motor skills, and autonomic dysfunction including abnormal sweating, cold extremities, and poor sleep that has_material_basis_in homozygous mutation in the SLC18A2 gene on chromosome 10q25.3. |
| Has Material Basis In | HP_0003593, GENO_0000148 |
| Disease Node Id | disease_node_16711 |
| Doid Id | DOID_0070490 |
| Label | Infantile Parkinsonism-Dystonia 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Movement Disorders(ID:disease_node_5240) (Disease)