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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Townes-Brocks syndrome
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Accession:DOID:0050887 term browser browse the term
Definition:A syndrome that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. (DO)
Synonyms:exact_synonym: Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome;   REAR syndrome;   SALL1-RELATED CONDITION;   TBS1;   Townes Syndrome;   Townes-Brocks syndrome 1;   anal-ear-renal-radial malformation syndrome;   imperforate anus with hand, foot, and ear anomalies;   imperforate anus-hand and foot anomalies syndrome;   renal-ear-anal-radial syndrome;   renal-ear-anal-radial syndrome (rear);   sensorineural deafness with imperforate anus and hypoplastic thumbs;   sensorineural deafness with imperforate anus and thumb anomalies;   sensorineural deafness-imperforate anus-hypoplastic thumbs syndrome
 related_synonym: Townes-Brocks-branchiootorenal-like syndrome
 primary_id: MESH:C536974
 alt_id: OMIM:107480
 xref: GARD:7784;   OMIM:PS107480


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Townes-Brocks syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DACT1 dishevelled binding antagonist of beta catenin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:33,950,016...33,959,671
Ensembl chr 8:33,949,926...33,958,449 		JBrowse link
G SALL1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: Deafness, sensorineural, with imperforate anus and hypoplastic thumbs | ClinVar Annotator: match by term: SALL1-related condition | ClinVar Annotator: match by term: Townes syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome OMIM
ClinVar		 PMID:8133838 PMID:9425907 PMID:9536098 PMID:9973281 PMID:10533063 More... NCBI chr 2:64,242,742...64,260,021
Ensembl chr 2:64,243,987...64,259,521 		JBrowse link
Townes-Brocks Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DACT1 dishevelled binding antagonist of beta catenin 1 ISO ClinVar Annotator: match by term: Townes-Brocks syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28054444 PMID:28492532 PMID:36066768 NCBI chr 8:33,950,016...33,959,671
Ensembl chr 8:33,949,926...33,958,449 		JBrowse link
Townes-Brocks-Branchiootorenal-Like Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SALL1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome ClinVar PMID:9973281 PMID:10928856 PMID:14755477 PMID:16088922 PMID:23069192 More... NCBI chr 2:64,242,742...64,260,021
Ensembl chr 2:64,243,987...64,259,521 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    syndrome 10115
      Townes-Brocks syndrome 2
        Townes-Brocks Syndrome 2 1
        Townes-Brocks-Branchiootorenal-Like Syndrome 1
Path 2
Term Annotations click to browse term
  disease 15603
    Pathological Conditions, Signs and Symptoms 12033
      Signs and Symptoms 9910
        Neurologic Manifestations 9586
          sensory system disease 6611
            Otorhinolaryngologic Diseases 1678
              auditory system disease 951
                Hearing Disorders 775
                  Hearing Loss 770
                    sensorineural hearing loss 585
                      Townes-Brocks syndrome 2
                        Townes-Brocks Syndrome 2 1
                        Townes-Brocks-Branchiootorenal-Like Syndrome 1
paths to the root