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MIRAGE
cerebrotendinous xanthomatosis
Summary
- Synonym
-
- Cholestanol storage disease
- 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.
- Super Class
- xanthomatosis
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000708 | Atypical behavior |
| HP:0000520 | Proptosis |
| HP:0000718 | Aggressive behavior |
| HP:0000505 | Visual impairment |
| HP:0000716 | Depression |
| HP:0000736 | Short attention span |
| HP:0000648 | Optic atrophy |
| HP:0000464 | Abnormality of the neck |
| HP:0000639 | Nystagmus |
| HP:0000492 | Abnormal eyelid morphology |
