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"

6 matching diseasesClear search ×

Catel-Manzke syndrome

Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome · Index finger anomaly-Pierre Robin syndrome

ORPHA:1388

Genetic syndromic Pierre Robin syndrome

ORPHA:363294

Non-syndromic polydactyly, syndactyly and/or hyperphalangy

ORPHA:93458

Robin sequence-oligodactyly syndrome

Pierre Robin sequence-oligodactyly syndrome

ORPHA:3104

Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy

ORPHA:294959

Teratogenic Pierre Robin syndrome

Teratogenic Pierre Robin sequence

ORPHA:138059