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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, sensorineural, with imperforate anus and hypoplastic thumbs;   Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome;   REAR syndrome;   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 thumb anomalies;   sensorineural deafness-imperforate anus-hypoplastic thumbs syndrome
 narrow_synonym: DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIES TOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME
 primary_id: MESH:C536974
 alt_id: OMIM:107480
 xref: GARD:7784;   OMIM:PS107480
For additional species annotation, visit the Alliance of Genome Resources.



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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 6:89,790,676...89,818,254
Ensembl chr 6:89,790,644...89,817,906
JBrowse link
G Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: Townes syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8133838 PMID:9425907 PMID:9973281 PMID:10533063 PMID:10819639 More... NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705
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 NCBI chr 6:89,790,676...89,818,254
Ensembl chr 6:89,790,644...89,817,906
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:10928856 PMID:14755477 PMID:28492532 NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    syndrome 9705
      Townes-Brocks syndrome 2
        Townes-Brocks Syndrome 2 1
        Townes-Brocks-Branchiootorenal-Like Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        sensory system disease 6410
          Otorhinolaryngologic Diseases 1665
            auditory system disease 1069
              Hearing Disorders 806
                Hearing Loss 802
                  sensorineural hearing loss 659
                    Townes-Brocks syndrome 2
                      Townes-Brocks Syndrome 2 1
                      Townes-Brocks-Branchiootorenal-Like Syndrome 1
paths to the root