Terminology Service for NFDI4Health

Birt-Hogg-Dube syndrome

Go to external page http://purl.obolibrary.org/obo/DOID_0050676


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

Label

Birt-Hogg-Dube syndrome

database cross reference
Subsets

DO_FlyBase_slim

comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:0050676