Hereditary Hemorrhagic Telangiectasia type 3

GPTKB entity

Statements (15)
Predicate Object
gptkbp:instanceOf genetic disorder
rare disease
gptkbp:associatedWith gptkb:ENG
gptkbp:hasOrphanetID ORPHA:774
https://www.w3.org/2000/01/rdf-schema#label Hereditary Hemorrhagic Telangiectasia type 3
gptkbp:ICD-10_code I78.0
gptkbp:inheritance autosomal dominant
gptkbp:OMIM 601101
gptkbp:onset childhood or adolescence
gptkbp:subspecies gptkb:Hereditary_Hemorrhagic_Telangiectasia
gptkbp:symptom arteriovenous malformations
recurrent nosebleeds
telangiectasia
gptkbp:bfsParent gptkb:HHT3
gptkbp:bfsLayer 7