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ONTOLOGY REPORT - ANNOTATIONS


Term:Townes-Brocks syndrome
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Accession:DOID:0050887 term browser browse the term
Definition:An autosomal dominant disease that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. (DO)
Synonyms:exact_synonym: Anal-Ear-Renal-Radial Malformation Syndrome;   Anus, Imperforate, with Hand, Foot, and Ear Anomalies;   Deafness, Sensorineural, With Imperforate Anus And Thumb Anomalies;   Deafness, sensorineural, with imperforate anus and hypoplastic thumbs;   Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome;   Imperforate Anus-Hand and Foot Anomalies Syndrome;   REAR syndrome;   Renal-Ear-Anal-Radial Syndrome (Rear);   Renal-ear-anal-radial syndrome;   Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome;   TBS1;   TOWNES-BROCKS SYNDROME 1;   Townes Syndrome
 narrow_synonym: DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIES TOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME
 primary_id: MESH:C536974;   RDO:0002709
 alt_id: OMIM:107480
 xref: GARD:7784
For additional species annotation, visit the Alliance of Genome Resources.


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Townes-Brocks syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dact1 dishevelled-binding antagonist of beta-catenin 1 JBrowse link 6 93,740,440 93,751,003 RGD:11554173
G Sall1 spalt-like transcription factor 1 JBrowse link 19 23,387,737 23,405,025 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Townes-Brocks syndrome 2
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
                    Townes-Brocks syndrome 2
paths to the root