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ONTOLOGY REPORT - ANNOTATIONS


Term:Bjornstad syndrome
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Accession:DOID:0050677 term browser browse the term
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. (DO)
Synonyms:exact_synonym: BJS;   Deafness and pili torti, Bjornstad type;   PILI TORTI-DEAFNESS SYNDROME;   PTD;   pili torti and nerve deafness;   pili torti-sensorineural hearing loss
 narrow_synonym: BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY
 broad_synonym: BCS1L-related disorder
 primary_id: MESH:C537633
 alt_id: OMIM:262000;   RDO:0003509
 xref: GARD:22
For additional species annotation, visit the Alliance of Genome Resources.


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Bjornstad syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 9 81,868,158 81,872,201 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Bjornstad syndrome 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          Otorhinolaryngologic Diseases 1035
            auditory system disease 660
              Hearing Disorders 549
                Hearing Loss 545
                  sensorineural hearing loss 422
                    Bjornstad syndrome 1
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