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DO Term : asphyxiating thoracic dystrophy [DOID:0050592] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.
  • synonyms:
  • ICD10CM:Q77.2,
  • ORDO:474,
  • Jeune syndrome,
  • PS208500,
  • OMIM:PS208500,
  • short-rib thoracic dysplasia with or without polydactyly,
  • thoracic pelvic phalangeal dystrophy
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