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Hermansky-Pudlak syndrome 6
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene.
Uniprot Description A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0060544
NCIT:C150369
OMIM:614075
UMLS:C3888007
MONDO:0013558
High level summary of knowledge for a disease, including descriptions and datasource references.