- TypeGroup
- Disease group(s)
- Child entries
- 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