Search Ontology:
Human Disease
Hermansky-Pudlak syndrome 8
- Term ID
- DOID:0060546
- Synonyms
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- Definition
- A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13. http://omim.org/entry/614077
- References
- Ontology
- Human Disease ( DOID:0060546 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models