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.
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
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 CTD Direct Evidence: marker/mechanism OMIM:107480
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