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"

9 matching diseasesClear search ×

Primary acquired pure red cell aplasia

Primary acquired PRCA

ORPHA:98872

Acalvaria

Primary acalvaria

ORPHA:945

Acquired arginine vasopressin deficiency

Acquired CDI · Acquired neurogenic diabetes insipidus

ORPHA:95626

Acquired idiopathic sideroblastic anemia

AISA · Primary acquired sideroblastic anemia

ORPHA:75564

Acquired pseudoxanthoma elasticum

Acquired Gronblad-Strandberg-Touraine syndrome · Acquired PXE

ORPHA:228247

Idiopathic achalasia

Achalasia cardia · Idiopathic achalasia of esophagus

ORPHA:930

Immune-mediated thrombotic thrombocytopenic purpura

Acquired thrombotic thrombocytopenic purpura · Acquired TTP

ORPHA:93585

Polycythemia vera

Acquired primary erythrocytosis · Osler-Vaquez disease

ORPHA:729

Primary avascular necrosis

Primary AVN

ORPHA:399302