Human genes for asphyxiating thoracic dystrophy
Asphyxiating thoracic dystrophy [DOID:0050592]
A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.
Synonyms: asphyxiating thoracic dystrophy, asphyxiating thoracic dystrophies, DOID:0050592, Jeune syndrome, short-rib thoracic dysplasia with or without polydactyly ...