Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:abbreviation |
gptkb:A1AD
Alpha-1 |
| gptkbp:affects |
lungs
liver |
| gptkbp:causedBy |
mutation in SERPINA1 gene
|
| gptkbp:diagnosedBy |
gptkb:blood_test
genetic testing |
| 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:alpha-1_antitrypsin_deficiency
|
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
AATD
|