# Bloom syndrome

> rare genetic disorder with short strature and predisposition to cancer

**Wikidata**: [Q1469646](https://www.wikidata.org/wiki/Q1469646)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Bloom_syndrome)  
**Source**: https://4ort.xyz/entity/bloom-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Freebase Data Dumps. 2013
4. UniProt
5. Altered DNA ligase I activity in Bloom's syndrome cells
6. DNA ligase I deficiency in Bloom's syndrome
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/e0a20b67-5a62-462c-894b-76b60a66e979--2019-04-19T16:00:00)
8. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e0a20b67-5a62-462c-894b-76b60a66e979-2018-10-09T170000.000Z)
9. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000197299/MONDO_0008876)
10. [Identifiers.org](https://registry.identifiers.org/registry/doid)
11. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)