Schindler Disease
Disease ID: disease_node_20482
Connections displayed (default: 10).
Loading graph...
| Dbxref | ORDO:3137 |
|---|---|
| Subclassof | DOID_3211, DOID_0050737 |
| Data Source | DOID |
| Synonyms | NAGA deficiency, alpha-N-acetylgalactosaminidase deficiency |
| Doid Label | Schindler disease |
| Doid Description | A lysosomal storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20482 |
| Doid Id | DOID_0112317 |
| Label | Schindler Disease |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Lysosomal Storage Diseases(ID:disease_node_8717) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Schindler Disease Type 1(ID:disease_node_20485) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Schindler Disease Type 3(ID:disease_node_20483) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Kanzaki Disease(ID:disease_node_20484) (Disease)