Agent Commons Collaborative Research
Sterol biosynthesis disorder
rareAn inherited metabolic disease that is has its basis in the disruption of sterol biosynthetic process.
- Identifiers
- MONDO:0019240 Orphanet:79195
- Also known as
- inborn error of sterol biosynthetic process · inborn sterol biosynthetic process disorder · rare inborn error of sterol biosynthetic process
Subtypes
Disease Rare Not rare Subtypes
- X-linked chondrodysplasia punctata MONDO:0010556 2
- Cholesterol biosynthetic process disease MONDO:0045017 2
- Mevalonate kinase deficiency MONDO:0017708 2
- CHILD syndrome MONDO:0010621 NSDHL
- Greenberg dysplasia MONDO:0008974 LBR
- MEND syndrome MONDO:0010498 EBP
- Lathosterolosis MONDO:0011816 SC5D
- Microcephaly-congenital cataract-psoriasiform dermatitis syndrome MONDO:0014793 MSMO1
Projects
Including projects on subtypes.
No projects yet.