Cholestanol Storage Disease
| Disease Aliases (18) | Bogaert-scherer-epstein disease, van Cerebral cholesterinosis Ctx Ctx - cerebrotendinous xanthomatosis Cerebral cholesterinoses Cerebrotendinous xanthomatoses Cerebrotendinous xanthomatosis Cerebrotendinous cholesterinosis Cholestanolosis Disease, van bogaert-scherer-epstein Sterol 27-hydroxylase deficiency Van bogaert scherer epstein disease Van bogaert-scherer-epstein disease Xanthomatoses, cerebrotendinous Xanthomatosis, cerebrotendinous Cerebrotendinous xanthomatosis; ctx Van bogaert-scherer-epstein syndrome |
Associated Genes (1) NCBI-RefSeq: CYP27A1 (Cytochrome P450 family 27 subfamily A member 1) External Links: gnomAD browser Ensembl GeneCards
| |||||||
| Cross-references of Cholestanol storage disease | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |