# Alagille syndrome

> congenital disorder of digestive system

**Wikidata**: [Q1544408](https://www.wikidata.org/wiki/Q1544408)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Alagille_syndrome)  
**Source**: https://4ort.xyz/entity/alagille-syndrome


## References

1. [Source](https://ddrare.nibiohn.go.jp/)
2. Disease Ontology
3. Monarch Disease Ontology release 2018-06-29
4. Freebase Data Dumps. 2013
5. [Source](https://www.jpeds.com/article/S0022-3476(83)80345-X/pdf)
6. UniProt
7. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
8. Mutations in the human Jagged1 gene are responsible for Alagille syndrome
9. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000101384/MONDO_0007318)
10. NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway
11. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)
12. Quora
13. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)