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ZIRC
OBO ID: DOID:0050677
Term Name: Bjornstad syndrome Search Ontology:
Synonyms:
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/
References:
Ontology: Human Disease   (DOID:0050677)
OTHER Bjornstad syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
BCS1L Bjornstad syndrome 262000
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None