FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term asphyxiating thoracic dystrophy ID (Ontology) DOID:0050592 (Human Disease)
Definition A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.
Also Known As "Jeune syndrome" ; "short-rib thoracic dysplasia with or without polydactyly" ; "thoracic pelvic phalangeal dystrophy"
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Spanning Tree (Parents/Children)
Only view relationship: 
  bone disease
   |__bone development disease
       |__asphyxiating thoracic dystrophy  13 rec.
           |__asphyxiating thoracic dystrophy 1
           |__asphyxiating thoracic dystrophy 2 1 rec.
           |__asphyxiating thoracic dystrophy 3 1 rec.
           |__asphyxiating thoracic dystrophy 4
           |__asphyxiating thoracic dystrophy 5 1 rec.
           |__short-rib thoracic dysplasia 6 with or without polydactyly 1 rec.
           |__short-rib thoracic dysplasia 7 with or without polydactyly 1 rec.
           |__short-rib thoracic dysplasia 8 with or without polydactyly 1 rec.
           |__short-rib thoracic dysplasia 9 with or without polydactyly 1 rec.
           |__short-rib thoracic dysplasia 10 with or without polydactyly 1 rec.
           |__short-rib thoracic dysplasia 11 with or without polydactyly 3 rec.
           |__short-rib thoracic dysplasia 13 with or without polydactyly 1 rec.
           |__short-rib thoracic dysplasia 14 with polydactyly
           |__short-rib thoracic dysplasia 18 with polydactyly 1 rec.
           |__short-rib thoracic dysplasia 19 with or without polydactyly
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Is a bone development disease
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Synonyms
  • "Jeune syndrome" EXACT
    "short-rib thoracic dysplasia with or without polydactyly" EXACT
    "thoracic pelvic phalangeal dystrophy" EXACT
Secondary IDs
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ICD10CM:Q77.2
MIM:PS208500
ORDO:474