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"

11 matching diseasesClear search ×

Genetic cystic renal disease

Hereditary cystic renal disease

ORPHA:93587

Genetic renal tubular disease

ORPHA:183592

Hereditary hemorrhagic telangiectasia

HHT · Rendu-Osler disease

ORPHA:774

Lipid storage disease

ORPHA:79204

Rare adrenal disease

ORPHA:101954

Rare genetic renal disease

ORPHA:98056

Rare renal disease

ORPHA:93626

Rare renal tubular disease

ORPHA:93603

Renal disease with cataract

ORPHA:98646

Stargardt disease

Fundus flavimaculatus · Stargardt 1

ORPHA:827

Systemic-onset juvenile idiopathic arthritis

Still disease · Systemic-onset JIA

ORPHA:85414