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Smith-Lemli-Opitz syndrome

Disease Summary
Associated Targets (1)
Tchem

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Mondo Description Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.
Uniprot Description An autosomal recessive frequent inborn disorder of sterol metabolism with characteristic congenital malformations and mental retardation. Children with SLOS have elevated serum 7-dehydrocholesterol (7-DHC) levels and low serum cholesterol levels. SLOS occurs in relatively high frequency: approximately 1 in 20,000 to 30,000 births in populations of northern and central European background. Historically, a clinical distinction often was made between classic ('type I') SLOS and the more severely affected ('type II') patients. There is, in reality, a clinical and biochemical continuum from mild to severe SLOS.
Mondo Term and Equivalent IDs
MONDO:0010035:  Smith-Lemli-Opitz syndrome
GARD:0005683: 
ICD10:E78.72: 
MESH:D019082: 
NCIT:C85071: 
Orphanet:818: 
SCTID:43929004: 
UMLS:C0175694: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)