Search Ontology:
Human Disease

Hermansky-Pudlak syndrome 8

Term ID
DOID:0060546
Synonyms
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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