asphyxiating thoracic dystrophy

Summary

DOID:0050592 - asphyxiating thoracic dystrophy

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

Synonyms: Jeune syndrome, thoracic pelvic phalangeal dystrophy, short-rib thoracic dysplasia with or without polydactyly

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: dync2h1, nek1, wdr19, ift80, ift140, ttc21b, wdr35

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), bone development disease (is_a)