OBO ID: DOID:0050592
Term Name: asphyxiating thoracic dystrophy Search Ontology:
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
is a type of:
has subtype:
OTHER asphyxiating thoracic dystrophy PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS
Fish Conditions Citations
WT + MO1-ift80 standard conditions Beales et al., 2007
PHENOTYPE No data available

CITATIONS (7)
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