Hereditary Hemorrhagic Telangiectasia type 4
GPTKB entity
Statements (17)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
circulatory system
|
| gptkbp:alternativeName |
gptkb:HHT4
HHT type 4 |
| gptkbp:hasGeneticCause |
mutation in GDF2 gene
|
| https://www.w3.org/2000/01/rdf-schema#label |
Hereditary Hemorrhagic Telangiectasia type 4
|
| gptkbp:ICD-10_code |
I78.0
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
615506
|
| gptkbp:onset |
childhood or adolescence
|
| gptkbp:subspecies |
gptkb:Hereditary_Hemorrhagic_Telangiectasia
|
| gptkbp:symptom |
arteriovenous malformations
recurrent nosebleeds telangiectasias |
| gptkbp:bfsParent |
gptkb:HHT4
|
| gptkbp:bfsLayer |
7
|