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juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0111543
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001270 | Motor delay |
| HP:0001290 | Generalized hypotonia |
| HP:0001627 | Abnormal heart morphology |
| HP:0001631 | Atrial septal defect |
| HP:0001643 | Patent ductus arteriosus |
| HP:0001892 | Abnormal bleeding |
| HP:0001903 | Anemia |
| HP:0001999 | Abnormal facial shape |
| HP:0002003 | Large forehead |
| HP:0002007 | Frontal bossing |
