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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease polydactyly
Comorbidity C0003466|imperforate anus
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PubMedID- 21253317 Characteristic features suggested for tbs include the following: anorectal abnormalities (imperforate anus), abnormalities of the hands (preaxial polydactyly, triphalangeal thumbs), abnormalities of the feet (syndactyly, club foot), deformities of the outer ear ("lop ears") and preauricular tags, and sensorineural hearing loss5).

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