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"

16 matching diseasesClear search ×

Primary polyarteritis nodosa

Primary PAN · Primary periarteritis nodosa

ORPHA:439737

Acalvaria

Primary acalvaria

ORPHA:945

Hyperkalemic periodic paralysis

Adynamia episodica hereditaria · Familial hyperPP

ORPHA:682

Idiopathic achalasia

Achalasia cardia · Idiopathic achalasia of esophagus

ORPHA:930

Polyarteritis nodosa

Küssmaul-Maier disease · PAN

ORPHA:767

Primary anetoderma

Primary macular atrophy

ORPHA:228272

Primary avascular necrosis

Primary AVN

ORPHA:399302

Primary central precocious puberty in male

Primary central precocious puberty in boy · Primary CPP in boy

ORPHA:650087

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 lymphedema

ORPHA:77240

Primary membranoproliferative glomerulonephritis

Mesangiocapillary glomerulonephritis · Primary MPGN

ORPHA:54370

Primary myoclonus

ORPHA:306750

Primary osteolysis

ORPHA:93449

Primary Sjögren disease

Primary Sjögren syndrome · Primary SjD

ORPHA:289390