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 ×

Atelosteogenesis type II

Atelosteogenesis type 2 · De la Chapelle dysplasia

ORPHA:56304

Atelosteogenesis type III

AO3 · AOIII

ORPHA:56305

Atelosteogenesis type I

AO1 · AOI

ORPHA:1190