Term Name: Hermansky-Pudlak syndrome 6
Synonyms:
Definition: A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24.
Ontology: Human Disease [DOID:0060544]   ( DOID:0060544 )

Relationships
is a type of: Hermansky-Pudlak syndrome