Sterol biosynthesis disorder
MONDO:0019240An inherited metabolic disease that is has its basis in the disruption of sterol biosynthetic process.
Also known as: inborn error of sterol biosynthetic process, inborn sterol biosynthetic process disorder, rare inborn error of sterol biosynthetic process
78 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsSub-types
CHILD syndrome
(33)
Smith-Lemli-Opitz syndrome
(6)
Lathosterolosis
(3)
Desmosterolosis
(2)
Greenberg dysplasia
(2)
Hyperimmunoglobulinemia D with periodic fever
(2)
Mevalonate kinase deficiency
(2)
Cholesterol biosynthetic process disease
(1)
X-linked chondrodysplasia punctata
(1)
MEND syndrome
(0)
Mevalonic aciduria
(0)
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
(0)
X-linked chondrodysplasia punctata 1
(0)
X-linked chondrodysplasia punctata 2
(0)
Broader categories
Disease
(618)
Metabolic disease
(215)
Hereditary disease
(172)
Inherited lipid metabolism disorder
(165)
Inborn errors of metabolism
(42)
Human disease
(14)
Developmental defect during embryogenesis
(7)
Disease of genetic or genomic mechanism
(2)
Steroid metabolism disease
(1)
Developmental anomaly of metabolic origin
(0)