OBO ID: DOID:0111543
Term Name: juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome Search Ontology:
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 SMAD4 on chromosome 18q21.2. (2)
References:
Ontology: Human Disease   (DOID:0111543)
OTHER juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SMAD4 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None