FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term hereditary hemorrhagic telangiectasia ID (Ontology) DOID:1270 (Human 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.
Also Known As "Osler hemorrhagic telangiectasia syndrome" ; "Osler-Weber-Rendu disease" ; "Rendu-Osler-Weber disease"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Alleles Genes
 hereditary hemorrhagic telangiectasia       --       1
 ameliorates | ataxia telangiectasia       5       --
 ameliorates | Friedreich ataxia      14       --
 exacerbates | ataxia telangiectasia       3       --
 exacerbates | Friedreich ataxia       1       --
 for disease ribbon | ataxia telangiectasia       --       1
 for disease ribbon | hereditary hemorrhagic telangiectasia       --       1
 model of | ataxia telangiectasia      13      1
 model of | Friedreich ataxia       3       --
 model of | hereditary hemorrhagic telangiectasia       --       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal dominant disease__
cardiovascular system disease   |
 |__vascular disease____________|
                                hereditary hemorrhagic telangiectasia  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal dominant disease
vascular disease
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "Osler hemorrhagic telangiectasia syndrome" EXACT
    "Osler-Weber-Rendu disease" EXACT
    "Rendu-Osler-Weber disease" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
GARD:6626
ICD10CM:I78.0
ICD9CM:448.0
MESH:D013683
MIM:187300
MIM:600376
MIM:615506
NCI:C35064
ORDO:774
SNOMEDCT_US_2023_03_01:266324004
UMLS_CUI:C0039445