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"

3 matching diseasesClear search ×

Yunis-Varon syndrome

Cleidocranial dysplasia-micrognathia-absent thumbs syndrome

ORPHA:3472

Catel-Manzke syndrome

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

ORPHA:1388

Cleidocranial dysplasia

Cleidocranial dysostosis

ORPHA:1452