Birt-Hogg-Dube syndrome 1

Definition

Any Birt-Hogg-Dube (BHD) syndrome in which the cause of the disease is a variation in the FLCN gene.

Also known as fibrofolliculomas with trichodiscomas and acrochordons, Hornstein-Knickenberg syndrome — per MONDO

Also identified as

• DOID 0050676 per MONDO
• ICD9 704.8 per MONDO
• MESH D058249 per MONDO
• NCIT C28244 per MONDO
• OMIM 135150 per MONDO
• Orphanet 122 per MONDO
• SCTID 110985001 per MONDO