|OBO ID: DOID:0050677|
|Term Name:||Bjornstad syndrome||Search Ontology:|
|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/|
|Ontology:||Human Disease (DOID:0050677)|
|is a type of:||
OTHER Bjornstad syndrome PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.