"A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy."^^ . "asphyxiating thoracic dystrophy"^^ . "DOID:0050592"^^ . "ORDO:474"^^ . . . "short-rib thoracic dysplasia with or without polydactyly"@en . . "OMIM:PS208500"^^ . "Jeune syndrome"@en . "ICD10CM:Q77.2"^^ . "thoracic pelvic phalangeal dystrophy"@en . "OMIM mapping confirmed by DO. [SN]."^^ . "disease_ontology"^^ .