Xanthomatosis, Cerebrotendinous
Disease ID: disease_node_9912
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| Dbxref | GARD:5622, MESH:D019294, MIM:213700, NCI:C84628, ORDO:909, SNOMEDCT_US_2023_03_01:63246000, UMLS_CUI:C0238052 |
|---|---|
| Subclassof | DOID_3345 |
| Data Source | DOID, MESH |
| Synonyms | Cholestanol storage disease |
| Mesh Id | D019294 |
| Mesh Label | Xanthomatosis, Cerebrotendinous |
| Mesh Subclassof | D008052, D014973 |
| Doid Label | cerebrotendinous xanthomatosis |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_9912 |
| Doid Id | DOID_4810 |
| Label | Xanthomatosis, Cerebrotendinous |
- Outgoing r'ship
SUBCLASS_OFto/from Xanthomatosis(ID:disease_node_8033) (Disease)