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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 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;   TBS1;   Townes Syndrome;   Townes-Brocks syndrome 1;   anal-ear-renal-radial malformation syndrome;   imperforate anus with hand, foot, and ear 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 6:93,740,440...93,751,003
Ensembl chr 6:93,740,586...93,749,809
JBrowse link
G Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: Townes-Brocks syndrome 1
ClinVar Annotator: match by term: Townes syndrome
ClinVar Annotator: match by OMIM:107480
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8133838, PMID:9425907, PMID:9973281, PMID:10533063, PMID:10819639, PMID:10928856, PMID:11102974, PMID:11478532, PMID:11484202, PMID:14627694, PMID:14755477, PMID:16088922, PMID:16429401, PMID:17221874, PMID:17431915, PMID:18000979, PMID:19005989, PMID:22308078, PMID:23069192, PMID:24429398, PMID:25741868, PMID:26380986, PMID:26467025, PMID:27657687, PMID:28492532, PMID:29395072 NCBI chr19:23,387,737...23,405,025
Ensembl chr19:23,389,375...23,405,039
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 ClinVar
OMIM
PMID:28054444 NCBI chr 6:93,740,440...93,751,003
Ensembl chr 6:93,740,586...93,749,809
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 null
ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome
ClinVar PMID:10928856, PMID:14755477, PMID:28492532 NCBI chr19:23,387,737...23,405,025
Ensembl chr19:23,389,375...23,405,039
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Townes-Brocks syndrome 2
        Townes-Brocks Syndrome 2 1
        Townes-Brocks-Branchiootorenal-Like Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          Otorhinolaryngologic Diseases 1190
            auditory system disease 754
              Hearing Disorders 614
                Hearing Loss 609
                  sensorineural hearing loss 489
                    Townes-Brocks syndrome 2
                      Townes-Brocks Syndrome 2 1
                      Townes-Brocks-Branchiootorenal-Like Syndrome 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.