Search Ontology:
Human Disease

Hermansky-Pudlak syndrome 2

Term ID
DOID:0060540
Synonyms
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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