juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome Disease Ontology Browser

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juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome (DOID:0111543)
Alliance: disease page
Synonyms: JP-HHT
Alt IDs: OMIM:175050
Definition: A syndrome characterized by hamartomatous polyps in the gastrointestinal tract, telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations of the lungs, liver, brain, and gastrointestinal tract that has_material_basis_in heterozygous mutation in the SMAD4 gene on chromosome 18q21.2.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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