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An Entity of Type : owl:Axiom, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

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type	Axiom
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
Type	http://purl.obolibrary.org/obo/ECO_0007645
annotatedProperty	http://purl.obolibrary.org/obo/IAO_0000115
annotatedSource	juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome
annotatedTarget	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.
database_cross_reference	url:https://www.ncbi.nlm.nih.gov/pubmed/15031030 url:https://www.ncbi.nlm.nih.gov/pubmed/20101697
is topic of	Human Disease Ontology

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