Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0050677 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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