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
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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
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  disease 14875
    syndrome 4220
      Bjornstad syndrome 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          Otorhinolaryngologic Diseases 1038
            auditory system disease 662
              Hearing Disorders 551
                Hearing Loss 547
                  sensorineural hearing loss 428
                    Bjornstad syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.