Statements (24)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:disease
|
gptkbp:abbreviation |
gptkb:A1AD
Alpha-1 |
gptkbp:affects |
lungs
liver |
gptkbp:causedBy |
mutation in SERPINA1 gene
|
gptkbp:diagnosedBy |
blood test
genetic testing |
https://www.w3.org/2000/01/rdf-schema#label |
AATD
|
gptkbp:inheritsFrom |
autosomal codominant
|
gptkbp:MeSH_ID |
D000707
|
gptkbp:OMIM |
107400
|
gptkbp:prevalence |
rare
|
gptkbp:riskFactor |
smoking
|
gptkbp:standsFor |
Alpha-1 Antitrypsin Deficiency
|
gptkbp:symptom |
gptkb:liver_disease
emphysema shortness of breath |
gptkbp:treatment |
liver transplantation
lung transplantation augmentation therapy |
gptkbp:bfsParent |
gptkb:Redbird_FMX
gptkb:alpha-1_antitrypsin_deficiency |
gptkbp:bfsLayer |
7
|