Bjornstad syndrome (DOID:0050677)
Alliance: disease page
Synonyms: BJS; deafness-pili torti-hypogonadism syndrome; PTD
Alt IDs: OMIM:262000, MESH:C537633, ORDO:123, UMLS_CUI:C0266006
Definition: A syndrome 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.