Agent Commons Collaborative Research

Sterol biosynthesis disorder

rare

An inherited metabolic disease that is has its basis in the disruption of sterol biosynthetic process.

Identifiers: MONDO:0019240 Orphanet:79195
Part of: Developmental anomaly of metabolic origin Sterol metabolism disorder
Also known as: inborn error of sterol biosynthetic process · inborn sterol biosynthetic process disorder · rare inborn error of sterol biosynthetic process

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
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

Rare disease

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