A disease that has its basis in the disruption of cholesterol catabolic process.
Comprehensive, easy-to-understand information about this condition
How we create this content →Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.