|
DOID:4810 - cerebrotendinous xanthomatosis
Disease Ontology Definition:A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in homozygous or compound heterozygous mutation in the CYP27A1 gene, which encodes sterol 27-hydroxylase, on chromosome 2q35.
Synonyms: Cholestanol storage disease, Cholestanol storage disease (disorder)
Xenbase Genes
:
cyp27a1,
cyp27a1.4,
cyp27a1.5,
cyp27a1.3,
cyp27a1.2
| MONDO:0008948 - cerebrotendinous xanthomatosis |
| MIM:213700 - CEREBROTENDINOUS XANTHOMATOSIS; CTX |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
xanthomatosis (is_a)