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"

200 matching diseasesClear search ×

PLAA-associated neurodevelopmental disorder

PLAAND

ORPHA:521426

PLCG2-associated antibody deficiency and immune dysregulation

FACU · Familial atypical cold urticaria

ORPHA:300359

Polyneuropathy associated with IgM monoclonal gammopathy

ORPHA:209004

Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG

Anti-MAG neuropathy · Neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein

ORPHA:639

Potassium-aggravated myotonia

K+-aggravated myotonia · K-aggravated myotonia

ORPHA:612

Proteasome-associated autoinflammatory syndrome

ALDD syndrome · Autoinflammation-lipodystrophy-dermatosis syndrome

ORPHA:324977

Pulmonary arterial hypertension associated with another disease

PAH · PAH associated with another disease

ORPHA:275791

Pulmonary arterial hypertension associated with chronic hemolytic anemia

PAH · PAH associated with chronic hemolytic anemia

ORPHA:275828