Disease: Xanthoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0302314
Disease: Xanthoma
Xanthoma 		0.120 Biomarker disease BEFREE Cerebrotendinous xanthomatosis (CTX) is a rare familial disorder characterized by progressive neurological dysfunction, atherosclerosis, and xanthomas with sterol storage in the nervous system, vessels, and tendons. 8006521 1994
CUI: C0302314
Disease: Xanthoma
Xanthoma 		0.120 Biomarker disease BEFREE The rare disease cerebrotendinous xanthomatosis (CTX) is due to a lack of sterol 27-hydroxylase (CYP27A1) and is characterized by cholestanol-containing xanthomas in brain and tendons. 20511491 2010
CUI: C0302314
Disease: Xanthoma
Xanthoma 		0.120 Biomarker disease HPO