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Summary Literature (0)
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, short-rib thoracic dysplasia with or without polydactyly, thoracic pelvic phalangeal dystrophy

Xenbase Genes : wdr19, dync2i2, dync2li1, nek1, wdr35, ift81, ift80, ift140, ift172, dync2h1, cep120, ift43, KIAA0586, ttc21b, dync2i1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0018770 - Jeune syndrome


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)