Rare Disease Library

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"

7 matching diseasesClear search ×

Sjögren-Larsson syndrome

Fatty acid alcohol oxidoreductase deficiency

ORPHA:816

46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

17-beta-hydroxysteroid dehydrogenase 3 deficiency · 17-ketoreductase deficiency

ORPHA:752

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

ORPHA:753

Alkaptonuria

Hereditary ochronosis · Homogentisic acid oxidase deficiency

ORPHA:56

Congenital bile acid synthesis defect type 1

BASD1 · 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency

ORPHA:79301

Fatty acyl-CoA reductase 1 deficiency

PFCRD · FAR1 deficiency

ORPHA:438178

Xanthinuria type I

XDH deficiency · XO deficiency

ORPHA:93601