has material basis in germline mutation in CYP27A1 xanthomatosis eye disorder cerebrotendinous xanthomatosis https://rarediseases.info.nih.gov/diseases/5622/cerebrotendinous-xanthomatosis https://www.malacards.org/card/cerebrotendinous_xanthomatosis UMLS:C0238052 SCTID:63246000 cerebrotendinous xanthomatosis DOID:4810 OMIM:213700 NORD:915 MESH:D019294 NCIT:C84628 MEDGEN:116041 icd11.foundation:1556875179 NANDO:1200856 CTx Orphanet:909 cholestanol storage disease 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. sterol 27-hydroxylase deficiency CTX GARD:0005622 MONDO:0008948 syndromic dyslipidemia leukodystrophy inborn disorder of bile acid synthesis subcutaneous tissue disorder autosomal recessive metabolic cerebellar ataxia hereditary peripheral neuropathy cerebral lipidosis with dementia cholesterol catabolic process disease