Search Ontology:
Human Disease

Hermansky-Pudlak syndrome 1

Term ID
DOID:0060539
Synonyms
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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