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"

8 matching diseasesClear search ×

Florid cemento-osseous dysplasia

Florid osseous dysplasia · Focal cemento-osseous dysplasia

ORPHA:83451

Atelosteogenesis type II

Atelosteogenesis type 2 · De la Chapelle dysplasia

ORPHA:56304

Focal facial dermal dysplasia

FFDD

ORPHA:398166

Focal facial dermal dysplasia type IV

FFDD type IV · FFDD4

ORPHA:398189

Immuno-osseous dysplasia

ORPHA:169349

Isolated focal cortical dysplasia

Epilepsy due to FCD

ORPHA:65683

Oculodentodigital dysplasia

Oculo-dento-digital dysplasia · ODOD syndrome

ORPHA:2710

Schimke immuno-osseous dysplasia

Schimke syndrome · Spondyloepiphyseal dysplasia-nephrotic syndrome

ORPHA:1830