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DOID DOID:0050677
Name Bjornstad syndrome
Definition An autosomal recessive disease that is characterized by early onset of hearing loss and hair loss due to pili torti, has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35.
https://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/
Xrefs

GARD:22

OMIM:262000

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is_a autosomal recessive disease

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