Term Name: Hermansky-Pudlak syndrome 7
Synonyms:
Definition: A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3.
Ontology: Human Disease [DOID:0060545]   ( DOID:0060545 )

Relationships
is a type of: Hermansky-Pudlak syndrome