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Jeune syndrome

Disease Summary
Associated Targets (25)
Tbio

22

Tchem

2

Tdark

1


Explore Associated Targets
Mondo Description Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes.
Disease Ontology Description An autosomal recessive disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.
Mondo Term and Equivalent IDs
MONDO:0018770:  Jeune syndrome
GARD:0003049: 
MESH:C537571: 
NCIT:C84794: 
OMIMPS:208500: 
Orphanet:474: 
SCTID:75049004: 
UMLS:C0265275: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)