- Synonym(s)
- Osteoporosis with calvarial doughnut lesions
- TypeDisease
- External link(s)
- Gene product
- Disease group(s)
- Home
- Diseases
- LIPID METABOLISM AND TRANSPORT
- 14 Disorders of lipid metabolism
- 14.6 Disorders of sphingolipid synthesis and recycling
- Serine palmitoyltransferase deficiency
- Serine palmitoyltransferase small subunit A deficiency
- 3-Ketodihydrosphingosine reductase deficiency
- Ceramide synthase 1 deficiency
- Ceramide synthase 2 deficiency
- Ceramide synthase 3 deficiency
- TLCD3B deficiency
- Dihydroceramide desaturase deficiency
- Alkaline ceramidase 3 deficiency
- CYP4F22 omega hydroxylase deficiency
- Fatty acid transport protein 4 deficiency
- Acylceramide transacylase deficiency
- UDP-glucose ceramide glucosyltransferase deficiency
- ABCA12 lipid transporter deficiency
- Arachidonate 12-lipoxygenase, R type deficiency
- Arachidonate lipoxygenase 3 deficiency
- SDR9C7 deficiency
- Lipase N deficiency
- Nonlysosomal glucosylceramidase deficiency
- Fatty acid 2-hydroxylase deficiency
- Sphingosine-1-phosphate lyase deficiency
- Sphingosine-1-phosphate transporter deficiency
- Sphingomyelin synthase 2 deficiency
- 14.6 Disorders of sphingolipid synthesis and recycling
- 14 Disorders of lipid metabolism
- LIPID METABOLISM AND TRANSPORT
- Genes
- Gene products
- Pathways
- Multimers
- More information
- Home
- Diseases
- LIPID METABOLISM AND TRANSPORT
- 14 Disorders of lipid metabolism
- 14.6 Disorders of sphingolipid synthesis and recycling
- Serine palmitoyltransferase deficiency
- Serine palmitoyltransferase small subunit A deficiency
- 3-Ketodihydrosphingosine reductase deficiency
- Ceramide synthase 1 deficiency
- Ceramide synthase 2 deficiency
- Ceramide synthase 3 deficiency
- TLCD3B deficiency
- Dihydroceramide desaturase deficiency
- Alkaline ceramidase 3 deficiency
- CYP4F22 omega hydroxylase deficiency
- Fatty acid transport protein 4 deficiency
- Acylceramide transacylase deficiency
- UDP-glucose ceramide glucosyltransferase deficiency
- ABCA12 lipid transporter deficiency
- Arachidonate 12-lipoxygenase, R type deficiency
- Arachidonate lipoxygenase 3 deficiency
- SDR9C7 deficiency
- Lipase N deficiency
- Nonlysosomal glucosylceramidase deficiency
- Fatty acid 2-hydroxylase deficiency
- Sphingosine-1-phosphate lyase deficiency
- Sphingosine-1-phosphate transporter deficiency
- Sphingomyelin synthase 2 deficiency
- 14.6 Disorders of sphingolipid synthesis and recycling
- 14 Disorders of lipid metabolism
- LIPID METABOLISM AND TRANSPORT
- Genes
- Gene products
- Pathways
- Multimers
- More information