Niemann-Pick Disease Type A
Disease ID: disease_node_20500
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| Dbxref | GARD:7206, ICD10CM:E75.2, MIM:257200 |
|---|---|
| Subclassof | DOID_14504 |
| Data Source | DOID |
| Doid Label | Niemann-Pick disease type A |
| Doid Description | A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4. |
| Disease Node Id | disease_node_20500 |
| Doid Id | DOID_0070111 |
| Disease Has Basis In | SO_0001537 |
| Label | Niemann-Pick Disease Type A |
- Outgoing r'ship
SUBCLASS_OFto/from Niemann-Pick Diseases(ID:disease_node_5606) (Disease)