Human genes for juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome
Juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome [DOID:0111543]
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.
Synonyms: juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome, DOID:0111543, juvenile polyposishereditary hemorrhagic telangiectasia syndrome, juvenile polyposis-hereditary hemorrhagic telangiectasia disease, juvenile polyposis-hereditary hemorrhagic telangiectasia disorder ...