FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome ID (Ontology) DOID:0111543 (Human Disease)
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.
Also Known As "JP-HHT"
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 Genes
 juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome       1
 for disease ribbon | juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome       1
 model of | juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome       1
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome  1 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "JP-HHT" EXACT OMO:0003012
Secondary IDs
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MIM:175050