Rare Disease Library

Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

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

3-hydroxy-3-methylglutaric aciduria

3-hydroxy-3-methylglutaryl-CoA lyase deficiency · HMG-CoA lyase deficiency

3-hydroxyacyl-CoA dehydrogenase deficiency

3-methylglutaconic aciduria type 1

3-methylglutaconyl-CoA hydratase deficiency · 3MG-CoA hydratase deficiency

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

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

Adult Refsum disease

Classic Refsum disease · HMSN 4

Autosomal recessive dopa-responsive dystonia

Autosomal recessive Segawa syndrome · DYT5b

Cerebrotendinous xanthomatosis

CTX · Sterol 27-hydroxylase deficiency

Combined deficiency of factor V and factor VIII

F5F8D · FV and FVIII combined deficiency

Combined immunodeficiency due to LCK deficiency

CID due to LCK deficiency · CID due to lymphocyte-specific protein tyrosine kinase deficiency

Combined immunodeficiency with granulomatosis

CID due to RAG 1/2 deficiency · Combined immunodeficiency due to RAG 1/2 deficiency

Combined pancreatic lipase-colipase deficiency

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

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

Congenital bile acid synthesis defect type 3

BASD3 · Oxysterol 7-alpha-hydroxylase deficiency

Connective tissue disorder due to lysyl hydroxylase-3 deficiency

Bone fragility-contractures-arterial rupture-deafness syndrome · Connective tissue disorder due to LH3 deficiency

Dopamine beta-hydroxylase deficiency

DBH deficiency

Encephalopathy due to prosaposin deficiency

Combined prosaposin deficiency

Hawkinsinuria

4-HPPD deficiency · 4-alpha-hydroxyphenylpyruvate 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

Mitochondrial disorder due to a defect in mitochondrial protein synthesis

Combined OXPHOS defect · Combined OXPHOS deficiency

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1

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