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ENAsphyxiating Thoracic Dystrophy (ATD)
Alias:
Jeune Thoracic Dystrophy
Asphyxiating Thoracic Dysplasia
Jeune Syndrome
Short-Rib Thoracic Dysplasia with or Without Polydactyly
Dysplasia, Short-Rib Thoracic, with/without Polydactyly
Short-Rib Thoracic Dysplasia Without Polydactyly
Asphyxiating Thoracic Dystrophy of the Newborn
Chondroectodermal Dysplasia-Like Syndrome
Asphyxiating Thoracic Chondrodystrophy
Thoracic-Pelvic-Phalangeal Dystrophy
Thoracic Pelvic Phalangeal Dystrophy
Thoracic Asphyxiant Dystrophy
Asphyxiating Thorax Dystrophy
Infantile Thoracic Dystrophy
Jeune Thoracic Dysplasia
Atd
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Asphyxiating Thoracic Dystrophy, also known as jeune thoracic dystrophy, is related to short-rib thoracic dysplasia 1 with or without polydactyly and short-rib thoracic dysplasia 3 with or without polydactyly, and has symptoms including icterus An important gene associated with Asphyxiating Thoracic Dystrophy is DYNC2H1 (Dynein Cytoplasmic 2 Heavy Chain 1), and among its related pathways/superpathways are Signal Transduction and Organelle biogenesis and maintenance. Affiliated tissues include bone and pancreas, and related phenotypes are growth/size/body region and nervous system
Related ID：
ICD11：554018956
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