Juvenile Polyposis-Hereditary Hemorrhagic Telangiectasia Syndrome
Disease ID: disease_node_20185
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| Dbxref | MIM:175050 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID |
| Synonyms | JP-HHT |
| Doid Label | juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome |
| Doid Description | 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. |
| Existence Starts During | HP_0011462 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20185 |
| Doid Id | DOID_0111543 |
| Label | Juvenile Polyposis-Hereditary Hemorrhagic Telangiectasia Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)