Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Disorders of Sex Development
CUI: C0036875
Disease: Disorders of Sex Development
0.010 GeneticVariation BEFREE The novel large duplication spanning exons 3-10 of the HSD17B3 gene that we report here in compound heterozygosity with the known p.R80Q leads to 17β-HSD-3 deficiency presenting as 46,XY Disorder of Sex Development. 22445608 2012