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Entry Name Description Category Pathway Gene
H00573 Townes-Brocks syndrome Townes-Brocks syndrome (TBS) is an autosomal dominant disorder. Characteristic features of the disease include external ear anomalies called microtia, hearing loss, hand anomalies like preaxial polydactyly/triphalangeal ... Congenital malformation (TBS1) SALL1 [HSA:6299] [KO:K19871]
(TBS2) DACT1 [HSA:51339] [KO:K22154]
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