- Synonym(s)
- Porokeratosis type 7
- TypeDisease
- External link(s)
- Gene product
- Disease group(s)
- Home
- Diseases
- LIPID METABOLISM AND TRANSPORT
- 14 Disorders of lipid metabolism
- 14.7 Disorders of sterol and bile acid metabolism
- 14.7.1 Disorders of sterol biosynthesis
- Porokeratosis
- 3-Hydroxy-3-methylglutaryl-CoA reductase deficiency
- Mevalonate kinase deficiency
- Phosphomevalonate kinase deficiency
- Mevalonate pyrophosphate decarboxylase deficiency
- Farnesyl diphosphate synthase deficiency
- Geranylgeranyl pyrophosphate synthase deficiency
- Squalene synthase deficiency
- Lanosterol 14-alpha-demethylase deficiency
- Lanosterol synthase deficiency
- Sterol C14 reductase deficiency
- Sterol-C4-methyl oxidase deficiency
- NSDHL-related disease
- Cholestenol delta-isomerase deficiency
- Lathosterolosis
- Desmosterolosis
- Smith-Lemli-Opitz syndrome
- 14.7.1 Disorders of sterol biosynthesis
- 14.7 Disorders of sterol and bile acid metabolism
- 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
- 14.7 Disorders of sterol and bile acid metabolism
- 14.7.1 Disorders of sterol biosynthesis
- Porokeratosis
- 3-Hydroxy-3-methylglutaryl-CoA reductase deficiency
- Mevalonate kinase deficiency
- Phosphomevalonate kinase deficiency
- Mevalonate pyrophosphate decarboxylase deficiency
- Farnesyl diphosphate synthase deficiency
- Geranylgeranyl pyrophosphate synthase deficiency
- Squalene synthase deficiency
- Lanosterol 14-alpha-demethylase deficiency
- Lanosterol synthase deficiency
- Sterol C14 reductase deficiency
- Sterol-C4-methyl oxidase deficiency
- NSDHL-related disease
- Cholestenol delta-isomerase deficiency
- Lathosterolosis
- Desmosterolosis
- Smith-Lemli-Opitz syndrome
- 14.7.1 Disorders of sterol biosynthesis
- 14.7 Disorders of sterol and bile acid metabolism
- 14 Disorders of lipid metabolism
- LIPID METABOLISM AND TRANSPORT
- Genes
- Gene products
- Pathways
- Multimers
- More information