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Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.
Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"
Congenital bile acid synthesis defect type 2
Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency · BASD2
46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
46,XY DSD due to 5-alpha-reductase 2 deficiency · Pseudovaginal perineoscrotal hypospadias
Congenital bile acid synthesis defect type 1
BASD1 · 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
Smith-Lemli-Opitz syndrome
7-dehydrocholesterol reductase deficiency · RSH syndrome