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Human Disease
Hermansky-Pudlak syndrome 2
- Term ID
- DOID:0060540
- Synonyms
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- Definition
- A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1. http://omim.org/entry/608233
- References
- Ontology
- Human Disease ( DOID:0060540 )
- is a type of
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Genes Involved
Zebrafish Models