Term Name: Hermansky-Pudlak syndrome 4
Synonyms:
Definition: A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1.
Ontology: Human Disease [DOID:0060542]   ( DOID:0060542 )

Relationships
is a type of: Hermansky-Pudlak syndrome