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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
hereditary hemorrhagic telangiectasia
Summary
- Synonym
-
- Osler hemorrhagic telangiectasia syndrome
- Osler-Weber-Rendu disease
- Rendu-Osler-Weber disease
- Definition
- A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins.
- Super Class
- autosomal dominant disease vascular disease
External Links
- Disease Ontology
- DOID:1270
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 94 | ACVRL1 | activin A receptor like type 1 | |
| 2022 | ENG | endoglin | |
| 2658 | GDF2 | growth differentiation factor 2 | |
| 4089 | SMAD4 | SMAD family member 4 | |
| 7040 | TGFB1 | transforming growth factor beta 1 | |
| 7124 | TNF | tumor necrosis factor | |
| 27302 | BMP10 | bone morphogenetic protein 10 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 11482 | Acvrl1 | activin A receptor, type II-like 1 | |
| 12154 | Bmp10 | bone morphogenetic protein 10 | |
| 12165 | Gdf2 | growth differentiation factor 2 | |
| 13805 | Eng | endoglin | |
| 17128 | Smad4 | SMAD family member 4 | |
| 21803 | Tgfb1 | transforming growth factor, beta 1 | |
| 21926 | Tnf | tumor necrosis factor |
