Pantothenate Kinase-Associated Neurodegeneration
Disease ID: disease_node_3648
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| Dbxref | GARD:6564, ICD10CM:G23.0, MESH:D006211, MIM:234200, NCI:C8967, ORDO:157850, SNOMEDCT_US_2023_03_01:2992000, UMLS_CUI:C0018523 |
|---|---|
| Subclassof | DOID_0050737, DOID_0110734 |
| Data Source | DOID, MESH |
| Synonyms | Hallervorden-Spatz disease, Hallervorden-Spatz syndrome, NBIA1, Pigmentary pallidal degeneration, brain Iron Accumulation type I syndrome, neurodegeneration with brain iron accumulation 1 |
| Mesh Id | D006211 |
| Mesh Label | Pantothenate Kinase-Associated Neurodegeneration |
| Mesh Subclassof | D019150, D009069, D020271, D001480 |
| Doid Label | pantothenate kinase-associated neurodegeneration |
| Doid Description | A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_3648 |
| Doid Id | DOID_3981 |
| Label | Pantothenate Kinase-Associated Neurodegeneration |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)