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Disease Ontology Browser
Bjornstad syndrome (DOID:0050677)
Alliance: disease page
Synonyms: BJS; deafness-pili torti-hypogonadism syndrome; PTD
Alt IDs: OMIM:262000, MESH:C537633, ORDO:123, UMLS_CUI:C0266006
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
01/24/2023
MGI 6.22
The Jackson Laboratory