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"

7 matching diseasesClear search ×

Postpoliomyelitis syndrome

Postpolio sequelae · Postpolio syndrome

ORPHA:2942

Juvenile hyaline fibromatosis

Murray-Puretic-Drescher syndrome · Puretic syndrome

ORPHA:2028

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

ORPHA:1183

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

ORPHA:2905

Poland syndrome

Poland anomaly · Poland sequence

ORPHA:2911

Poliomyelitis

ORPHA:2912

Pollitt syndrome

Trichorrhexis nodosa syndrome · Trichothiodystrophy type C

ORPHA:75790