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Joubert syndrome with Jeune asphyxiating thoracic dystrophy

Disease Summary
Associated Targets (3)
Tbio

3


Explore Associated Targets
Mondo Description Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.
Mondo Term and Equivalent IDs
MONDO:0018342:  Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Orphanet:397715: 
SCTID:733418003: 
UMLS:C4518774: 
UMLS:CN225944: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found