Asphyxiating thoracic dystrophy 2

MONDO:0012644

Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene.

Also known as: ATD2, IFT80 Jeune syndrome, Jeune syndrome caused by mutation in IFT80, SRTD2, asphyxiating thoracic dystrophy 2, asphyxiating thoracic dystrophy type 2, short-rib thoracic dysplasia 2 with or without polydactyly

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