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"

10 matching diseasesClear search ×

Oculodentodigital dysplasia

Oculo-dento-digital dysplasia · ODOD syndrome

ORPHA:2710

Atelosteogenesis type II

Atelosteogenesis type 2 · De la Chapelle dysplasia

ORPHA:56304

Dentin dysplasia

DD

ORPHA:1653

Florid cemento-osseous dysplasia

Florid osseous dysplasia · Focal cemento-osseous dysplasia

ORPHA:83451

Hajdu-Cheney syndrome

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

ORPHA:955

Immuno-osseous dysplasia

ORPHA:169349

Oculo-oto-facial dysplasia

ORPHA:77302

Oculotrichodysplasia

Cecato de Lima-Pinheiro syndrome

ORPHA:2718

Otodental syndrome

Globodontia · Otodental dysplasia

ORPHA:2791

Schimke immuno-osseous dysplasia

Schimke syndrome · Spondyloepiphyseal dysplasia-nephrotic syndrome

ORPHA:1830