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- B5c954c5bf2bdd5f9c28c7f96d7769976 hasDbXref "Orphanet:857" @default.
- B5c954c5bf2bdd5f9c28c7f96d7769976 type Axiom @default.
- B5c954c5bf2bdd5f9c28c7f96d7769976 annotatedProperty IAO_0000115 @default.
- B5c954c5bf2bdd5f9c28c7f96d7769976 annotatedSource MONDO_0007142 @default.
- B5c954c5bf2bdd5f9c28c7f96d7769976 annotatedTarget "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." @default.