Search Ontology:
Human Disease

Birt-Hogg-Dube syndrome

Term ID
DOID:0050676
Synonyms
Definition
A skin disease that is characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax, has_material_basis_in heterozygous mutation in the gene encoding folliculin (FLCN) on chromosome 17p11. https://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/
References
Ontology
Human Disease   ( DOID:0050676 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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