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 ×

Diastrophic dysplasia

Diastrophic dwarfism

ORPHA:628

Geleophysic dysplasia

Geleophysic dwarfism

ORPHA:2623

Metatropic dysplasia

Metatropic dwarfism

ORPHA:2635

Parastremmatic dysplasia

Parastremmatic dwarfism

ORPHA:2646