|OBO ID: DOID:0111543|
|Term Name:||juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome||Search Ontology:|
|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 SMAD4 on chromosome 18q21.2. (2)|
|Ontology:||Human Disease (DOID:0111543)|
|is a type of:||
OTHER juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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