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Townes-Brocks syndrome

Disease Summary
Associated Targets (2)
Tbio

2


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Mondo Description Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.
Disease Ontology Description An autosomal dominant disease that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations.
Mondo Term and Equivalent IDs
MONDO:0007142:  Townes-Brocks syndrome
GARD:0007784: 
MESH:C536974: 
NCIT:C99085: 
OMIMPS:107480: 
Orphanet:857: 
SCTID:24750000: 
UMLS:C0265246: 
UMLS:CN034849: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)