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ONTOLOGY REPORT - ANNOTATIONS


Term:Brown-Vialetto-Van Laere syndrome
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Accession:DOID:0050694 term browser browse the term
Definition:An autosomal dominant disease that is characterized by progressive bulbar palsies with sensorineural deafness. (DO)
Synonyms:exact_synonym: Pontobulbar Palsy With Deafness;   Pontobulbar palsy and neurosensory deafness;   Progressive Bulbar Palsy with Sensorineural Deafness
 primary_id: MESH:C537111
 alt_id: RDO:0002882
 xref: OMIM:PS211530
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Brown-Vialetto-Van Laere syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc52a2 solute carrier family 52 member 2 JBrowse link 7 117,605,038 117,608,460 RGD:11554173
RGD:8554872
G Slc52a3 solute carrier family 52 member 3 JBrowse link 3 147,503,266 147,517,935 RGD:7240710
RGD:8554872
Brown-Vialetto-Van Laere Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc52a2 solute carrier family 52 member 2 JBrowse link 7 117,605,038 117,608,460 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Brown-Vialetto-Van Laere syndrome 2
        Brown-Vialetto-Van Laere Syndrome 1 0
        Brown-Vialetto-Van Laere Syndrome 2 1
Path 2
Term Annotations click to browse term
  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
                    Brown-Vialetto-Van Laere syndrome 2
                      Brown-Vialetto-Van Laere Syndrome 1 0
                      Brown-Vialetto-Van Laere Syndrome 2 1
paths to the root