Rare Disease Library

Xanthinuria type I

XDH deficiency · XO deficiency

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

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

Autosomal recessive extra-oral halitosis

Methanethiol oxidase deficiency · MTO-deficiency

Beta-ketothiolase deficiency

3-ketothiolase deficiency · 3-oxothiolase deficiency

Congenital bile acid synthesis defect type 1

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

Constitutional megaloblastic anemia with severe neurologic disease

DHFR deficiency · Dihydrofolate reductase deficiency

Dihydropteridine reductase deficiency

Hyperphenylalaninemia due to dihydropteridine reductase deficiency · PKU type 2

Dopa-responsive dystonia due to sepiapterin reductase deficiency

Autosomal recessive sepiapterin reductase-deficient DRD · DRD due to SRD

Fatty acyl-CoA reductase 1 deficiency

PFCRD · FAR1 deficiency

Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome

Ornithine decarboxylase deficiency · Bachmann-Bupp syndrome

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

HHH syndrome · ORNT1 deficiency

Hyperprolinemia type 1

Proline oxidase deficiency

Monoamine oxidase A deficiency

Brunner syndrome

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1

OBSOLETE: 18-hydroxylase deficiency · OBSOLETE: Aldosterone synthase deficiency

Progressive encephalopathy with leukodystrophy due to DECR deficiency

2,4-dienoyl-CoA reductase deficiency · DECR deficiency with hyperlysinemia

Sjögren-Larsson syndrome

Fatty acid alcohol oxidoreductase deficiency

Sulfite oxidase deficiency due to molybdenum cofactor deficiency

Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase · MOCOD

Xanthinuria type II

XDH and AOX dual deficiency · Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency