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cerebrotendinous xanthomatosis

Disease Summary
Associated Targets (1)
Tchem

1


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Mondo Description Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.
Uniprot Description Rare sterol storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts.
Disease Ontology Description A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma.
Mondo Term and Equivalent IDs
MONDO:0008948:  cerebrotendinous xanthomatosis
GARD:0005622: 
MESH:D019294: 
NCIT:C84628: 
Orphanet:909: 
SCTID:63246000: 
UMLS:C0238052: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)