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 ×

Trismus-pseudocamptodactyly syndrome

Distal arthrogryposis type 7 · Dutch-Kentucky syndrome

ORPHA:3377

Tropical endomyocardial fibrosis

Davies disease · TEMF

ORPHA:75565

True congenital shoulder dislocation

ORPHA:295030

Unifocal Langerhans cell histiocytosis

Unifocal histiocytosis X · Unifocal Langerhans cell granulomatosis

ORPHA:687730

Unilateral focal polymicrogyria

ORPHA:268947

Urocanic aciduria

Encephalopathy due to urocanase deficiency

ORPHA:210128

Vocal cord and pharyngeal distal myopathy

Distal myopathy with vocal cord weakness · VCPDM

ORPHA:600

Vulvar adenocarcinoma

Adenocarcinoma of the vulva

ORPHA:494454