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GENE - TERM ANNOTATION REPORT

RGD ID: 9013620
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Smad4
Name: SMAD family member 4
Acc ID: DOID:9002350
Term: Hereditary Hemorrhagic Telangiectasia, Type 1
Definition: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia leading to telangiectases and arteriovenous malformations of skin, mucosa, and viscera. Epistaxis and gastrointestinal bleeding are frequent complications of mucosal involvement. Visceral involvement includes that of the lung, liver, and brain. The most frequent form of hereditary hemorrhagic telangiectasia maps to the long arm of chromosome 9. Hereditary hemorrhagic telangiectasia type 1 (HHT1) is caused by heterozygous mutation in the gene encoding endoglin (ENG) on chromosome 9q34. (OMIM)
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Smad4 ISOSMAD4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 
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