Term Name: asphyxiating thoracic dystrophy
Synonyms: Jeune syndrome, short-rib thoracic dysplasia with or without polydactyly, thoracic pelvic phalangeal dystrophy
Definition: A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.
Ontology: Human Disease [DOID:0050592]   ( DOID:0050592 )

Relationships
is a type of: bone development disease
has subtype: asphyxiating thoracic dystrophy 1 asphyxiating thoracic dystrophy 2 asphyxiating thoracic dystrophy 3 asphyxiating thoracic dystrophy 4 asphyxiating thoracic dystrophy 5 short-rib thoracic dysplasia 6 with or without polydactyly short-rib thoracic dysplasia 7 with or without polydactyly short-rib thoracic dysplasia 8 with or without polydactyly short-rib thoracic dysplasia 9 with or without polydactyly short-rib thoracic dysplasia 10 with or without polydactyly short-rib thoracic dysplasia 11 with or without polydactyly short-rib thoracic dysplasia 13 with or without polydactyly short-rib thoracic dysplasia 14 with polydactyly short-rib thoracic dysplasia 18 with polydactyly short-rib thoracic dysplasia 19 with or without polydactyly