Hermansky-Pudlak Syndrome 1
Disease ID: disease_node_20207
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| Dbxref | MIM:203300 |
|---|---|
| Subclassof | DOID_3753 |
| Data Source | DOID |
| Doid Label | Hermansky-Pudlak syndrome 1 |
| Doid Description | A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24. |
| Disease Node Id | disease_node_20207 |
| Doid Id | DOID_0060539 |
| Label | Hermansky-Pudlak Syndrome 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Hermanski-Pudlak Syndrome(ID:disease_node_10905) (Disease)