Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:abbreviation |
Alpha-1 Antitrypsin Deficiency
|
| gptkbp:affects |
lungs
liver |
| gptkbp:cause |
gptkb:liver_disease
emphysema chronic obstructive pulmonary disease |
| gptkbp:diagnosedBy |
blood test
genetic testing |
| gptkbp:firstDescribed |
1963
|
| gptkbp:fullName |
Alpha-1 Antitrypsin Deficiency
|
| https://www.w3.org/2000/01/rdf-schema#label |
A1AD
|
| gptkbp:inheritance |
autosomal codominant
|
| gptkbp:MeSH_ID |
D000707
|
| gptkbp:mutationAssociatedWith |
gptkb:SERPINA1_gene
|
| gptkbp:OMIM |
107400
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
jaundice
shortness of breath wheezing |
| gptkbp:treatment |
liver transplantation
lung transplantation augmentation therapy |
| gptkbp:bfsParent |
gptkb:alpha-1_antitrypsin_deficiency
|
| gptkbp:bfsLayer |
7
|