Statements (37)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affectsOrgan |
gptkb:bone
heart liver kidneys eyes |
| gptkbp:alsoKnownAs |
arteriohepatic dysplasia
|
| gptkbp:category |
genetic disorder
rare disease |
| gptkbp:diagnosedBy |
liver biopsy
genetic testing |
| gptkbp:firstDescribed |
1969
Daniel Alagille |
| gptkbp:hasOrphanetID |
ORPHA52
|
| https://www.w3.org/2000/01/rdf-schema#label |
Alagille syndrome
|
| gptkbp:ICD-10_code |
Q44.7
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:MeSH_ID |
D016701
|
| gptkbp:mutationAssociatedWith |
gptkb:NOTCH2_gene
gptkb:JAG1_gene |
| gptkbp:OMIM |
118450
|
| gptkbp:prevalence |
1 in 30,000 to 1 in 50,000 live births
|
| gptkbp:symptom |
congenital heart defects
jaundice pruritus cholestasis xanthomas butterfly vertebrae posterior embryotoxon |
| gptkbp:treatment |
liver transplant
symptomatic management |
| gptkbp:bfsParent |
gptkb:Notch_protein
gptkb:Notch_signaling_pathway gptkb:human_NOTCH2_gene gptkb:chromosome_9q34 gptkb:Notch_receptor |
| gptkbp:bfsLayer |
7
|