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"

4 matching diseasesClear search ×

Pure autonomic failure

Bradbury-Eggleston syndrome · Idiopathic orthostatic hypotension

ORPHA:441

Acute pandysautonomia

Acute panautonomic GBS · Acute panautonomic Guillain-Barré syndrome

ORPHA:231457

Familial dysautonomia

HSAN3 · Hereditary sensory and autonomic neuropathy type 3

ORPHA:1764

Isolated dystonia

Pure dystonia

ORPHA:156159