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"

7 matching diseasesClear search ×

Idiopathic ductopenia

Idiopathic adult ductopenia · IAD

ORPHA:480512

Adult idiopathic neutropenia

Adult chronic idiopathic neutropenia

ORPHA:2688

Idiopathic achalasia

Achalasia cardia · Idiopathic achalasia of esophagus

ORPHA:930

Idiopathic avascular necrosis

Idiopathic AVN

ORPHA:399307

Idiopathic catatonia

Isolated catatonia · Isolated catatonic syndrome

ORPHA:648919

Idiopathic CD4 lymphocytopenia

ORPHA:228000

OBSOLETE: Autosomal dominant focal dystonia, DYT7 type

OBSOLETE: Adult-onset focal torsion dystonia · OBSOLETE: Adult-onset idiopathic torsion dystonia

ORPHA:93963