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ENJuvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome (JPHT)
Alias:
Juvenile Polyposis-Hereditary Hemorrhagic Telangiectasia Syndrome
Polyposis, Generalized Juvenile, with Pulmonary Arteriovenous Malformation
Telangiectasia, Hereditary Hemorrhagic, with Juvenile Polyposis Coli
Polyposis, Juvenile/hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia
Jp/hht Syndrome
Jps/hht
Jp-Hht
Jp/hht
Jpht
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Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome, also known as juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome, is related to generalized juvenile polyposis/juvenile polyposis coli and juvenile polyposis syndrome. An important gene associated with Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome is SMAD4 (SMAD Family Member 4), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. Affiliated tissues include liver and brain, and related phenotypes are mitral valve prolapse and mitral regurgitation
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MALACARDS
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