Search Ontology:
Human Disease

Hermansky-Pudlak syndrome 9

Term ID
DOID:0060547
Synonyms
Definition
A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21. http://omim.org/entry/614171
References
Ontology
Human Disease   ( DOID:0060547 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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