Search Ontology:
Human Disease

asphyxiating thoracic dystrophy

Term ID
DOID:0050592
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. https://ghr.nlm.nih.gov/condition/asphyxiating-thoracic-dystrophy
References
Ontology
Human Disease   ( DOID:0050592 )
Relationships
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has subtype
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Genes Involved
Zebrafish Models