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 ×

Schneckenbecken dysplasia

Chondrodysplasia with snail-like pelvis · SLC35D1-CDG

ORPHA:3144

Chondrodysplasia punctata

CDP

ORPHA:93442

Lethal chondrodysplasia

ORPHA:93465