Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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:0000160 | Narrow mouth |
| HP:0000256 | Macrocephaly |
| HP:0000316 | Hypertelorism |
| HP:0000331 | Short chin |
| HP:0000369 | Low-set ears |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0001028 | Hemangioma |
| HP:0001031 | Subcutaneous lipoma |
| HP:0001249 | Intellectual disability |
| HP:0001256 | Intellectual disability, mild |
