# Birt-Hogg-Dube syndrome

> human autosomal dominant genetic disorder that can cause susceptibility to kidney cancer, renal and pulmonary cysts

**Wikidata**: [Q2532540](https://www.wikidata.org/wiki/Q2532540)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Birt–Hogg–Dubé_syndrome)  
**Source**: https://4ort.xyz/entity/birt-hogg-dube-syndrome


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Freebase Data Dumps. 2013
4. UniProt
5. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/c96620e8-f9c9-41a0-a979-31fb9928abb6--2019-04-19T16:00:00)
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c96620e8-f9c9-41a0-a979-31fb9928abb6-2018-06-04T191544.022Z)
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000154803/MONDO_0007607)
9. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000154803/Orphanet_122)
10. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)
11. KBpedia
12. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)