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"

4 matching diseasesClear search ×

Hereditary butyrylcholinesterase deficiency

Hereditary pseudocholinesterase deficiency

ORPHA:132

Aceruloplasminemia

Hereditary ceruloplasmin deficiency

ORPHA:48818

Hereditary arginine vasopressin deficiency

Hereditary CDI · Hereditary neurogenic diabetes insipidus

ORPHA:30925

Hereditary fructose intolerance

Hereditary fructose-1-phosphate aldolase deficiency · Hereditary fructosemia

ORPHA:469