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ONTOLOGY REPORT - ANNOTATIONS


Term:branchiootorenal syndrome
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Accession:DOID:14702 term browser browse the term
Definition:An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)
Synonyms:exact_synonym: BOR Syndrome;   BOR1;   BOR2;   BRANCHIOOTORENAL SPECTRUM DISORDERS;   Branchio-Oto-Renal Syndrome;   Branchio-Otorenal Dysplasia;   Branchio-Otorenal Syndrome;   Branchiootorenal Dysplasia;   Branchiootorenal Syndrome 1;   Branchiootorenal Syndrome 2;   Lee Root Fenske Syndrome;   Melnick Fraser Syndrome
 narrow_synonym: BRANCHIOOTORENAL SYNDROME WITH CATARACT
 primary_id: MESH:D019280
 alt_id: OMIM:113650;   OMIM:610896;   RDO:0002198
 xref: GARD:10147
For additional species annotation, visit the Alliance of Genome Resources.


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branchiootorenal syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eya1 EYA transcriptional coactivator and phosphatase 1 JBrowse link 5 4,275,728 4,495,525 RGD:1598917
RGD:8554872
RGD:11554173
RGD:8554897
RGD:8554880
RGD:7240710
G Six1 SIX homeobox 1 JBrowse link 6 95,929,060 95,934,296 RGD:8554876
RGD:8554872
RGD:11554173
RGD:11064057
RGD:8554882
RGD:8554880
RGD:8554879
G Six5 SIX homeobox 5 JBrowse link 1 80,000,106 80,005,303 RGD:7240710
RGD:8554872
G Tfap2a transcription factor AP-2 alpha JBrowse link 17 24,653,342 24,670,457 RGD:11554173
branchiootic syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eya1 EYA transcriptional coactivator and phosphatase 1 JBrowse link 5 4,275,728 4,495,525 RGD:7240710
RGD:8554872
G Six1 SIX homeobox 1 JBrowse link 6 95,929,060 95,934,296 RGD:13592920
Branchiootic Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Six1 SIX homeobox 1 JBrowse link 6 95,929,060 95,934,296 RGD:7240710
RGD:8554872
Otofaciocervical Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eya1 EYA transcriptional coactivator and phosphatase 1 JBrowse link 5 4,275,728 4,495,525 RGD:7240710
RGD:8554872
G Pax1 paired box 1 JBrowse link 3 141,577,124 141,589,849 RGD:11554173
Otofaciocervical Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax1 paired box 1 JBrowse link 3 141,577,124 141,589,849 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      branchiootorenal syndrome 5
        Bor-Duane Hydrocephalus Contiguous Gene Syndrome 0
        Otofaciocervical Syndrome 1 2
        Otofaciocervical Syndrome 2 1
        branchiootic syndrome + 2
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          monogenic disease 2854
            autosomal genetic disease 2132
              autosomal dominant disease 1092
                branchiootorenal syndrome 5
                  Bor-Duane Hydrocephalus Contiguous Gene Syndrome 0
                  Otofaciocervical Syndrome 1 2
                  Otofaciocervical Syndrome 2 1
                  branchiootic syndrome + 2
paths to the root