FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Bjornstad syndrome ID (Ontology) DOID:0050677 (Human Disease)
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.
Also Known As "BJS" ; "deafness-pili torti-hypogonadism syndrome" ; "PTD"
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 Genes
 Bjornstad syndrome       1
 for disease ribbon | Bjornstad syndrome       1
 model of | Bjornstad syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 Bjornstad syndrome  1 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "BJS" EXACT OMO:0003012
    "deafness-pili torti-hypogonadism syndrome" EXACT
    "PTD" EXACT OMO:0003012
Secondary IDs
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GARD:22
MESH:C537633
MIM:262000
ORDO:123
SNOMEDCT_US_2023_03_01:67817003
UMLS_CUI:C0266006