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
Disease Ontology
DOID:1270
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 4 entries
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
Displaying all 2 entries
Gene ID Gene Symbol Description Source
11482 Acvrl1 activin A receptor, type II-like 1
13805 Eng endoglin

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.2.1

Last updated: April 7, 2025