Rare Disease Library

Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency

EDS VIA · Ocular-scoliotic EDS

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

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 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

Hypocalcemic vitamin D-dependent rickets

1-alpha-hydroxylase deficiency · PDDRI

Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency

Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss · FKBP22-deficient EDS

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1

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