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"

6 matching diseasesClear search ×

3C syndrome

Craniocerebellocardiac dysplasia · Ritscher-Schinzel syndrome

ORPHA:7

Craniodiaphyseal dysplasia

ORPHA:1513

Cranioectodermal dysplasia

CED · Sensenbrenner syndrome

ORPHA:1515

Craniofrontonasal dysplasia

CFND · CFNS

ORPHA:1520

Craniometaphyseal dysplasia

ORPHA:1522

Freeman-Sheldon syndrome

Craniocarpotarsal dysplasia · Craniocarpotarsal dystrophy

ORPHA:2053