Rare Disease Library

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

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

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

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

Cerebrotendinous xanthomatosis

CTX · Sterol 27-hydroxylase deficiency

Congenital bile acid synthesis defect type 2

Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency · BASD2

Congenital bile acid synthesis defect type 3

BASD3 · Oxysterol 7-alpha-hydroxylase 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

Dimethylglycine dehydrogenase deficiency

DMG dehydrogenase deficiency · DMGDH deficiency

Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy

Sorbitol dehydrogenase deficiency

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

Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency

GSD due to lactate dehydrogenase H-subunit deficiency · Glycogenosis due to lactate dehydrogenase H-subunit deficiency

Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

GSD due to lactate dehydrogenase M-subunit deficiency · Glycogenosis due to lactate dehydrogenase M-subunit deficiency

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

MTHFR deficiency · Methylene tetrahydrofolate reductase deficiency

Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency

Isolated complex I deficiency

Isolated NADH-coenzyme Q reductase deficiency · Isolated NADH-ubiquinone reductase deficiency

LCAT deficiency

Lecithin-cholesterol acyltransferase deficiency

Pentosuria

Essential pentosuria · Xylitol dehydrogenase deficiency

Progressive encephalopathy with leukodystrophy due to DECR deficiency

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

Pyruvate dehydrogenase E3-binding protein deficiency

2-oxoglutarate complex deficiency · Branched chain alpha-ketoacid dehydrogenase complex deficiency