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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/20101697, https://www.ncbi.nlm.nih.gov/pubmed/15031030
Xrefs	MIM:175050
Synonyms	JP-HHT [EXACT]
Parent Relationships	is_a autosomal dominant disease is_a syndrome
Subclass Logical Relationships	existence starts during some Young adult onset has material basis in some autosomal dominant inheritance