Search Ontology:
Human Disease
Hermansky-Pudlak syndrome 1
- Term ID
- DOID:0060539
- Synonyms
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- Definition
- A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24. http://omim.org/entry/203300
- References
- Ontology
- Human Disease ( DOID:0060539 )
- is a type of
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