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Human Disease and Mouse Model Detail
Human Disease Hermansky-Pudlak Syndrome 1; HPS1
OMIM ID: 203300
Human Phenotype Ontology associations
Synonyms Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells; Delta Storage Pool Disease; Hermansky-Pudlak Syndrome
View all models View ALL (8) mouse models for this human disease.
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     HPS1* Hps1* View 4 models HomoloGene and HGNC
     AP3D1 Ap3d1* View 1 model HomoloGene and HGNC
BLOC1S4 Bloc1s4* View 1 model HomoloGene and HGNC
BLOC1S5 Bloc1s5* View 1 model HomoloGene and HGNC
RAB27A Rab27a* View 1 model HomoloGene and HGNC
References Disease References using Mouse Models (12)

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
MGI 6.07
The Jackson Laboratory