| 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/15031030, https://www.ncbi.nlm.nih.gov/pubmed/20101697 |
| Xrefs | |
| Synonyms |
JP-HHT [EXACT] |
| Parent Relationships |
is_a syndrome |