# hereditary hemorrhagic telangiectasia

> genetic disorder involving capillaries

**Wikidata**: [Q776881](https://www.wikidata.org/wiki/Q776881)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Hereditary_hemorrhagic_telangiectasia)  
**Source**: https://4ort.xyz/entity/hereditary-hemorrhagic-telangiectasia


## References

1. [Source](https://ddrare.nibiohn.go.jp/)
2. Disease Ontology
3. Monarch Disease Ontology release 2018-06-29
4. Freebase Data Dumps. 2013
5. UniProt
6. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000106991/MONDO_0008535)
8. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.
9. BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia
10. [Identifiers.org](https://registry.identifiers.org/registry/doid)
11. KBpedia