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Human Disease and Mouse Model Detail
Human Disease Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome;
OMIM ID: 175050
Synonyms JP/HHT Syndrome; JPHT; JPS/HHT; Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia; Polyposis, Generalized Juvenile, with Pulmonary Arteriovenous Malformation; Telangiectasia, Hereditary Hemorrhagic, with Juvenile Polyposis Coli
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
     Smad4 SMAD4*   1:1 Homology

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
09/09/2014
MGI 5.19
The Jackson Laboratory