autosomal dominant disease syndromic disease Townes-Brocks syndrome https://github.com/monarch-initiative/mondo/issues/6751 https://rarediseases.info.nih.gov/diseases/7784/townes-brocks-syndrome https://www.malacards.org/card/townes_brocks_syndrome deafness, sensorineural, with imperforate anus and hypoplastic thumbs NCIT:C99085 UMLS:C0265246 imperforate anus with hand, foot and ear anomalies 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. MESH:C536974 OMIMPS:107480 ICD9:759.89 Townes-Brocks syndrome DOID:0050887 NORD:1780 TBS1 Orphanet:857 TBS MONDO:0007142 sensorineural deafness with imperforate anus and hypoplastic thumbs MEDGEN:75555 anus, imperforate, with hand, foot and ear anomalies GARD:0007784 icd11.foundation:66554749 SCTID:24750000 Townes syndrome renal-ear-anal-radial syndrome rear syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability congenital limb malformation