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 ×

Atypical dentin dysplasia due to SMOC2 deficiency

Dentin dysplasia type 1 with microdontia and shape anomalies

ORPHA:314721

Dentin dysplasia type I

DD-I · DTDP1

ORPHA:99789

Dentin dysplasia type II

DD-II · DTDP2

ORPHA:99791