Niemann-Pick Disease Type C1
Disease ID: disease_node_20498
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| Dbxref | GARD:7207, ICD10CM:E75.2, MIM:257220 |
|---|---|
| Subclassof | DOID_14504 |
| Data Source | DOID |
| Synonyms | NPC1 |
| Doid Label | Niemann-Pick disease type C1 |
| Doid Description | A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2. |
| Disease Node Id | disease_node_20498 |
| Doid Id | DOID_0070113 |
| Disease Has Basis In | SO_0001537 |
| Label | Niemann-Pick Disease Type C1 |
- Outgoing r'ship
SUBCLASS_OFto/from Niemann-Pick Diseases(ID:disease_node_5606) (Disease)