Term Name: Hermansky-Pudlak syndrome
Synonyms:
Definition: A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.
Ontology: Human Disease [DOID:3753]   ( DOID:3753 )

Relationships
is a type of: autosomal recessive disease syndrome
has subtype: Hermansky-Pudlak syndrome 1 Hermansky-Pudlak syndrome 2 Hermansky-Pudlak syndrome 3 Hermansky-Pudlak syndrome 4 Hermansky-Pudlak syndrome 5 Hermansky-Pudlak syndrome 6 Hermansky-Pudlak syndrome 7 Hermansky-Pudlak syndrome 8 Hermansky-Pudlak syndrome 9