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Metadata
ID	DOID:0111543
Name	juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome
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. https://www.ncbi.nlm.nih.gov/pubmed/15031030, https://www.ncbi.nlm.nih.gov/pubmed/20101697
Xrefs	OMIM:175050
Synonyms	JP-HHT [EXACT]
Parent Relationships	is_a syndrome is_a autosomal dominant disease