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Hermansky-Pudlak syndrome

Disease Summary
Associated Targets (12)
Tbio

12


Explore Associated Targets
Mondo Description Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.
Disease Ontology Description An autosomal recessive disease characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.
Mondo Term and Equivalent IDs
MONDO:0019312:  Hermansky-Pudlak syndrome
GARD:0006643: 
ICD10:E70.331: 
MESH:D022861: 
NCIT:C37261: 
OMIMPS:203300: 
Orphanet:79430: 
SCTID:9311003: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)