OBO ID: DOID:0050676
Term Name: Birt-Hogg-Dube syndrome Search Ontology:
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 Birt-Hogg-Dube syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FLCN Birt-Hogg-Dube syndrome 135150
ZEBRAFISH MODELS
Fish Conditions Citations
AB + MO3-flcn standard conditions Kenyon et al., 2016
PHENOTYPE No data available

CITATIONS (1)
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