Kanzaki Disease
Disease ID: disease_node_20484
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| Dbxref | GARD:9161, MIM:609242, ORDO:79280 |
|---|---|
| Subclassof | DOID_0112317 |
| Data Source | DOID |
| Synonyms | NAGA deficiency type 2, adult-onset alpha-N-acetylgalactosaminidase deficiency, alpha-N-acetylgalactosaminidase deficiency type 2 |
| Doid Label | Kanzaki disease |
| Doid Description | A Schindler disease characterized by adult-onset of angiokeratoma corporis diffusum and mild intellectual impairment that has_material_basis_in homozygous mutation in the gene encoding alpha-N-galactosaminidase (NAGA) on chromosome 22q13. |
| Disease Node Id | disease_node_20484 |
| Doid Id | DOID_0112319 |
| Label | Kanzaki Disease |
- Outgoing r'ship
SUBCLASS_OFto/from Schindler Disease(ID:disease_node_20482) (Disease)