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"

12 matching diseasesClear search ×

Freeman-Sheldon syndrome

Craniocarpotarsal dysplasia · Craniocarpotarsal dystrophy

ORPHA:2053

3C syndrome

Craniocerebellocardiac dysplasia · Ritscher-Schinzel syndrome

ORPHA:7

Caudal regression syndrome

Caudal dysgenesis syndrome · Caudal dysplasia

ORPHA:3027

Cleidocranial dysplasia

Cleidocranial dysostosis

ORPHA:1452

Craniodiaphyseal dysplasia

ORPHA:1513

Cranioectodermal dysplasia

CED · Sensenbrenner syndrome

ORPHA:1515

Craniofacial conodysplasia

ORPHA:85168

Craniofrontonasal dysplasia

CFND · CFNS

ORPHA:1520

Craniolenticulosutural dysplasia

Boyadjiev-Jabs syndrome

ORPHA:50814

Craniometaphyseal dysplasia

ORPHA:1522

Craniotelencephalic dysplasia

ORPHA:1528

Spondyloepiphyseal dysplasia with metatarsal shortening

Czech dysplasia, metatarsal type · SED with metatarsal shortening

ORPHA:137678