Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

12 matching diseasesClear search ×

Classic pantothenate kinase-associated neurodegeneration

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

ORPHA:216866

Atypical pantothenate kinase-associated neurodegeneration

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

ORPHA:216873

Classic congenital lipoid adrenal hyperplasia due to STAR deficency

Classic CLAH

ORPHA:325524

Classic eosinophilic pustular folliculitis

Ofuji disease · Classic EPF

ORPHA:617408

Classic heparin-induced thrombocytopenia

Classic heparin-associated thrombocytopenia · Classic HAT

ORPHA:3325

Classic multiminicore myopathy

Classic MmD · Classic multiminicore disease

ORPHA:324604

Classic phenylketonuria

Classic PKU · PKU

ORPHA:79254

Classic stiff person syndrome

Classic SPS · Classic stiff man syndrome

ORPHA:443192

Distal renal tubular acidosis

Classic RTA · Familial distal primary acidosis

ORPHA:18

Granular corneal dystrophy type I

Classic GCD · Classic granular corneal dystrophy

ORPHA:98962

Infantile Krabbe disease

Krabbe disease, classic form · Krabbe disease, early-onset

ORPHA:206436

Pelizaeus-Merzbacher disease, classic form

Classic PMD

ORPHA:280219