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Summary Literature (0)
OMIM:175050 - JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT


Xenbase Genes: smad4, smad4.2

Human Disease Resource: OMIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008278 - juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
MONDO:0017380 - juvenile polyposis syndrome

Disease Ontology (DO):
DOID:0111543 - juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome