# Borjeson-Forssman-Lehmann syndrome

> genetic condition in humans

**Wikidata**: [Q1019940](https://www.wikidata.org/wiki/Q1019940)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Börjeson–Forssman–Lehmann_syndrome)  
**Source**: https://4ort.xyz/entity/borjeson-forssman-lehmann-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/9555)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9555)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000156531/MONDO_0010537)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)