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DOID:0050592 - asphyxiating thoracic dystrophy
Disease Ontology Definition:A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.
Synonyms: Jeune syndrome, short-rib thoracic dysplasia with or without polydactyly, thoracic pelvic phalangeal dystrophy,
Echinobase Genes : dync2h1, nek1, wdr19, ift80, ift140, ttc21b, wdr35
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee