Rare Disease Library

Classical Ehlers-Danlos syndrome

Classical EDS · cEDS

Vascular-like classical Ehlers-Danlos syndrome

Classical EDS due to COL1A1 p.(Arg312Cys) · Classical Ehlers-Danlos syndrome due to COL1A1 p.(Arg312Cys)

Antiphospholipid syndrome

Classic antiphospholipid syndrome · APLS

Classic congenital lipoid adrenal hyperplasia due to STAR deficency

Classic CLAH

Classic eosinophilic pustular folliculitis

Ofuji disease · Classic EPF

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 phenylketonuria

Classic PKU · PKU

Classic stiff person syndrome

Classic SPS · Classic stiff man syndrome

Classical-like Ehlers-Danlos syndrome type 1

Ehlers-Danlos syndrome due to tenascin-X deficiency · Classical-like EDS type 1

Classical-like Ehlers-Danlos syndrome type 2

Classical-like EDS type 2 · AEBP1-related Ehlers-Danlos syndrome

Distal renal tubular acidosis

Classic RTA · Familial distal primary acidosis

Granular corneal dystrophy type I

Classic GCD · Classic granular corneal dystrophy

Pelizaeus-Merzbacher disease, classic form

Classic PMD