Chanarin-Dorfman-Syndrom
Chanarin-Dorfman syndrome
OMIM: 275630
Synonyme
- Neutralfett-Speicherkrankheit mit Ichthyose
- Chanarin-Dorfman-Krankheit
- Myopathie mit Neutralfett-Speicherung und Ichthyose
- Neutrallipid-Speicherkrankheit mit ichthyosiformer Erythrodermie
- CDS
- DCS
- neutral lipid storage disease with ichthyosis and myopathy
- triglyceride storage disease with impaired long-chain fatty acid oxidation
- ichthyotic neutral lipid storage disease
- Chanarin-Dorfman disease
Gen locations
- ABHD5(OMIM 604780)