Search Ontology:
Human Disease

Hermansky-Pudlak syndrome 4

Term ID
DOID:0060542
Synonyms
Definition
A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1. http://omim.org/entry/614073
References
Ontology
Human Disease   ( DOID:0060542 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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