Birt-Hogg-Dube syndrome
A skin disease that is characterized by the development of skin papules on the head, face and upper torso, has_material_basis_in heterozygous mutation in the gene encoding folliculin on chromosome 17p11. [ http://purl.obolibrary.org/obo/ECO_0007636 ]
Term info
Birt-Hogg-Dube syndrome
DO_FlyBase_slim
OMIM mapping confirmed by DO. [SN].
disease_ontology
DOID:0050676