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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 |
|---|---|---|---|
| 1048 | CEACAM5 | CEA cell adhesion molecule 5 | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 6401 | SELE | selectin E | |
| 6888 | TALDO1 | transaldolase 1 | |
| 7124 | TNF | tumor necrosis factor |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8TEQ8 | GPI ethanolamine phosphate transferase 3 | |
| Q96FM1 | Post-GPI attachment to proteins factor 3 |
