| umls-concept:C0238052 | skos:definition | MSH: An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms.,CSP: lipid storage disease, inherited as an autosomal recessive trait, characterized by xanthomas of the tendons, the white matter of the brain, and the lungs, and by spasticity, ataxia, pyramidal paresis, mental retardation, dementia, early cataracts, and atherosclerosis; associated with elevated plasma and tissue levels of cholestanol and defective bile synthesis, with the deposition of cholestanol in the central nervous system and myelin of peripheral nerves; the lesions contain cholesterol and dehydrocholesterol.,NCI: A rare inherited lipid-storage disorder caused by defects in the CYP27A1 gene. It is characterized by progressive neurologic dysfunction, premature atherosclerosis and develo | lld:umls |
