Term Name: Hermansky-Pudlak syndrome 3
Synonyms:
Definition: A Hermasky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24.
Ontology: Human Disease [DOID:0060541]   ( DOID:0060541 )

Relationships
is a type of: Hermansky-Pudlak syndrome