Term Name: Hermansky-Pudlak syndrome 5
Synonyms:
Definition: A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the HPS5 gene on chromosome 11p14.
Ontology: Human Disease [DOID:0060543]   ( DOID:0060543 )

Relationships
is a type of: Hermansky-Pudlak syndrome