juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome

Term ID

DOID:0111543

Synonyms

• JP-HHT

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. (2)

References

• OMIM:175050

Ontology

Human Disease   ( DOID:0111543 )