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hereditary hemorrhagic telangiectasia

Disease Summary
Associated Targets (13)
Tbio

9

Tclin

2

Tchem

2


Explore Associated Targets
Mondo Description Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting.
Disease Ontology Description An autosomal dominant disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins.
Mondo Term and Equivalent IDs
MONDO:0019180:  hereditary hemorrhagic telangiectasia
COHD:313504: 
GARD:0006626: 
ICD10:I78.0: 
ICD9:448.0: 
MESH:D013683: 
NCIT:C35064: 
OMIMPS:187300: 
Orphanet:774: 
SCTID:21877004: 
UMLS:C0039445: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)