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Human Disease and Mouse Model Detail
Human Disease Hermansky-Pudlak Syndrome 1; HPS1
OMIM ID: 203300
Synonyms Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells; Delta Storage Pool Disease; Hermansky-Pudlak Syndrome
View all models View ALL (7) mouse models for this human disease.
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Gene is associated with the disease in this species
      Mouse Homologs Human Homologs Mouse Models Mouse : Human
Homology Class
     Hps1* HPS1* View 4 models 1:1 Homology
     Ap3d1* AP3D1 View 1 model 1:1 Homology
Bloc1s4* BLOC1S4 View 1 model 1:1 Homology
Rab27a* RAB27A View 1 model 1:1 Homology
References Disease References using Mouse Models (8)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/12/2014
MGI 5.19
The Jackson Laboratory