Schindler Disease Type 1
Disease ID: disease_node_20485
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| Dbxref | GARD:116, MIM:609241, ORDO:79279 |
|---|---|
| Subclassof | DOID_0112317 |
| Data Source | DOID |
| Synonyms | NAGA deficiency type 1, alpha-N-acetylgalactosaminidase deficiency type 1 |
| Doid Label | Schindler disease type 1 |
| Doid Description | A Schindler disease characterized by infantile onset of neuroaxonal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. |
| Disease Node Id | disease_node_20485 |
| Doid Id | DOID_0112318 |
| Label | Schindler Disease Type 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Schindler Disease(ID:disease_node_20482) (Disease)