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
G Slc52a3 solute carrier family 52 member 3 JBrowse link 3 147,503,266 147,517,935 RGD:8554872
RGD:11554173
Brown-Vialetto-Van Laere Syndrome 1 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:8554872
G Slc52a3 solute carrier family 52 member 3 JBrowse link 3 147,503,266 147,517,935 RGD:8554872
RGD:7240710
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 14875
    syndrome 4220
      Brown-Vialetto-Van Laere syndrome 2
        Brown-Vialetto-Van Laere Syndrome 1 2
        Brown-Vialetto-Van Laere Syndrome 2 1
Path 2
Term Annotations click to browse term
  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
                    Brown-Vialetto-Van Laere syndrome 2
                      Brown-Vialetto-Van Laere Syndrome 1 2
                      Brown-Vialetto-Van Laere Syndrome 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.