Rare Disease Library

Classic congenital lipoid adrenal hyperplasia due to STAR deficency

Classic CLAH

Antiphospholipid syndrome

Classic antiphospholipid syndrome · APLS

Autosomal recessive cutis laxa type 2, classic type

ARCL2, Debré type · ARCL2, classic type

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Classic 21-OHD CAH

Classic eosinophilic pustular folliculitis

Ofuji disease · Classic EPF

Classic glucose transporter type 1 deficiency syndrome

De Vivo disease · Classic GLUT1 deficiency syndrome

Classic heparin-induced thrombocytopenia

Classic heparin-associated thrombocytopenia · Classic HAT

Classic maple syrup urine disease

Classic BCKD deficiency · Classic MSUD

Classic multiminicore myopathy

Classic MmD · Classic multiminicore disease

Classic pantothenate kinase-associated neurodegeneration

NBIA1, classic form · Neurodegeneration with brain iron accumulation type 1, classic form

Classic phenylketonuria

Classic PKU · PKU

Classic stiff person syndrome

Classic SPS · Classic stiff man syndrome

Classical Ehlers-Danlos syndrome

Classical EDS · cEDS

Congenital lipoid adrenal hyperplasia due to STAR deficency

LCAH · CLAH

Distal renal tubular acidosis

Classic RTA · Familial distal primary acidosis

Ependymoma

Classic ependymoma

Granular corneal dystrophy type I

Classic GCD · Classic granular corneal dystrophy

Hereditary xanthinuria

Classic xanthinuria · Xanthic urolithiasis

Pelizaeus-Merzbacher disease, classic form

Classic PMD