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Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Disease Summary
Associated Targets (3)
Tbio
3
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
Download Data for Joubert syndrome with Jeune asphyxiating thoracic dystrophy
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
Orphanet:397715
SCTID:733418003
UMLS:C4518774
UMLS:CN225944
MONDO:0018342
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