DISEASES

Disease-gene associations mined from literature

Human genes for asphyxiating thoracic dystrophy

Asphyxiating thoracic dystrophy [DOID:0050592]

A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.

Synonyms:  asphyxiating thoracic dystrophy,  asphyxiating thoracic dystrophies,  DOID:0050592,  Jeune syndrome,  short-rib thoracic dysplasia with or without polydactyly ...

Linkouts:  OMIM #1 #2 #3 #4 #5