Osler-Weber-Rendu syndrome type 2
GPTKB entity
Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:hereditary_hemorrhagic_telangiectasia
genetic disorder |
| gptkbp:alternativeName |
gptkb:HHT2
Hereditary hemorrhagic telangiectasia type 2 |
| gptkbp:discoveredBy |
gptkb:William_Osler
gptkb:Frederick_Parkes_Weber Jean Baptiste Rendu |
| gptkbp:hasOrphanetID |
ORPHA:600
|
| https://www.w3.org/2000/01/rdf-schema#label |
Osler-Weber-Rendu syndrome type 2
|
| gptkbp:inheritance |
autosomal dominant
familial |
| gptkbp:locatedOnChromosome |
chromosome 12q13
|
| gptkbp:mutationAssociatedWith |
gptkb:ACVRL1_gene
|
| gptkbp:OMIM |
600376
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
arteriovenous malformations
gastrointestinal bleeding recurrent nosebleeds telangiectasia mucocutaneous lesions |
| gptkbp:bfsParent |
gptkb:hereditary_hemorrhagic_telangiectasia_type_2
|
| gptkbp:bfsLayer |
7
|