Rare Disease Library

Congenital bile acid synthesis defect type 3

BASD3 · Oxysterol 7-alpha-hydroxylase deficiency

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

Adult Refsum disease

Classic Refsum disease · HMSN 4

Alpha delta granule deficiency

Combined alpha-delta platelet storage pool deficiency · Alpha dense granule deficiency

Apparent mineralocorticoid excess

11-beta-hydroxysteroid dehydrogenase deficiency type 2 · Ulick syndrome

Autosomal recessive dopa-responsive dystonia

Autosomal recessive Segawa syndrome · DYT5b

Cerebrotendinous xanthomatosis

CTX · Sterol 27-hydroxylase deficiency

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

CAH due to 11-beta-hydroxylase deficiency · CYP11B1 deficiency

Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

CAH due to 17-alpha-hydroxylase deficiency · Combined 17-hydroxylase/17,20-lyase deficiency

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency

Dopamine beta-hydroxylase deficiency

DBH deficiency

Fabry disease

Alpha-galactosidase A deficiency · Anderson-Fabry disease

Fucosidosis

Alpha-L-fucosidase deficiency

Hawkinsinuria

4-HPPD deficiency · 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency

Hyperandrogenism due to cortisone reductase deficiency

11-beta-hydroxysteroid dehydrogenase deficiency type 1

Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency

Hypocalcemic vitamin D-dependent rickets

1-alpha-hydroxylase deficiency · PDDRI

Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency

EDS VIA · Ocular-scoliotic EDS

Microcephaly-congenital cataract-psoriasiform dermatitis syndrome

Sterol-C4-methyl oxidase deficiency · SMO deficiency

Mucopolysaccharidosis type 1

Alpha-L-iduronidase deficiency · MPS1

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1

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

OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency

OBSOLETE: 17b-hydroxysteroid dehydrogenase deficiency type 10 · OBSOLETE: 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency

Oxoglutaric aciduria

Alpha-ketoglutarate dehydrogenase deficiency

Pyruvate dehydrogenase E1-alpha deficiency

PDHAD · Pyruvate decarboxylase deficiency

S-adenosylhomocysteine hydrolase deficiency

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

Tyrosinemia type 1

FAH deficiency · Fumarylacetoacetase deficiency