Bjornstad syndrome

Term ID

DOID:0050677

Synonyms

• BJS
• deafness-pili torti-hypogonadism syndrome
• PTD

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. https://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/

References

• GARD:22
• MESH:C537633
• MIM:262000
• ORDO:123
• SNOMEDCT_US_2023_03_01:67817003
• UMLS_CUI:C0266006

Ontology

Human Disease   ( DOID:0050677 )