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 ×

Nail-patella syndrome

Onychoosteodysplasia · Turner-Kieser syndrome

ORPHA:2614

Auriculoosteodysplasia

ORPHA:114

Blomstrand lethal chondrodysplasia

BLC · BOCD

ORPHA:50945

Hajdu-Cheney syndrome

Acroosteolysis dominant type · Acroosteolysis with osteoporosis and changes in skull and mandible

ORPHA:955

Isolated congenital onychodysplasia

COIF · COIF syndrome

ORPHA:79144

Oculotrichodysplasia

Cecato de Lima-Pinheiro syndrome

ORPHA:2718

Odonto-onycho-dermal dysplasia

OODD

ORPHA:2721

Omodysplasia

ORPHA:2733

Opsismodysplasia

ORPHA:2746

Osteofibrous dysplasia

OFD

ORPHA:488265

Pili torti-onychodysplasia syndrome

ORPHA:2890

Primary bone dysplasia

Primary osteodysplasia · Primary skeletal dysplasia

ORPHA:364526