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"

13 matching diseasesClear search ×

Idiopathic achalasia

Achalasia cardia · Idiopathic achalasia of esophagus

ORPHA:930

Acalvaria

Primary acalvaria

ORPHA:945

Adrenal hypoplasia congenita

Congenital adrenal hypoplasia · AHC

ORPHA:595337

Primary acquired pure red cell aplasia

Primary acquired PRCA

ORPHA:98872

Primary avascular necrosis

Primary AVN

ORPHA:399302

Primary bone dysplasia

Primary osteodysplasia · Primary skeletal dysplasia

ORPHA:364526

Primary cutaneous anaplastic large cell lymphoma

Primary C-ALCL · Regressive atypical histiocytosis

ORPHA:300865

Primary hemophagocytic lymphohistiocytosis

Genetic hemophagocytic lymphohistiocytosis · Genetic HLH

ORPHA:158038

Primary hypereosinophilic syndrome

Clonal hypereosinophilic syndrome · HES-M

ORPHA:314950

Primary polyarteritis nodosa

Primary PAN · Primary periarteritis nodosa

ORPHA:439737

Primary progressive aphasia

Mesulam syndrome · PPA

ORPHA:95432

Primary pulmonary hypoplasia

ORPHA:2257

Primary Sjögren disease

Primary Sjögren syndrome · Primary SjD

ORPHA:289390