# Bjornstad syndrome

> Human disease

**Wikidata**: [Q4919794](https://www.wikidata.org/wiki/Q4919794)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Björnstad_syndrome)  
**Source**: https://4ort.xyz/entity/bjornstad-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Freebase Data Dumps. 2013
4. UniProt
5. Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/7a26b6b5-e703-43fc-bcd0-eaff67ef8107--2018-07-09T16:00:00)
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a26b6b5-e703-43fc-bcd0-eaff67ef8107-2018-07-09T160000.000Z)
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000074582/MONDO_0009872)
9. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000074582/Orphanet_123)
10. [Identifiers.org](https://registry.identifiers.org/registry/doid)