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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 |
|---|---|---|---|
| 8526 | DGKE | diacylglycerol kinase epsilon | |
| 8813 | DPM1 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | |
| 9487 | PIGL | phosphatidylinositol glycan anchor biosynthesis class L | |
| 10400 | PEMT | phosphatidylethanolamine N-methyltransferase | |
| 27315 | PGAP2 | post-GPI attachment to proteins 2 | |
| 55650 | PIGV | phosphatidylinositol glycan anchor biosynthesis class V | |
| 84720 | PIGO | phosphatidylinositol glycan anchor biosynthesis class O | |
| 84992 | PIGY | phosphatidylinositol glycan anchor biosynthesis class Y | |
| 93210 | PGAP3 | post-GPI attachment to proteins phospholipase 3 | |
| 284098 | PIGW | phosphatidylinositol glycan anchor biosynthesis class W |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8TEQ8 | GPI ethanolamine phosphate transferase 3 | |
| Q96FM1 | Post-GPI attachment to proteins factor 3 |
