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"

4 matching diseasesClear search ×

Oculo-auriculo-vertebral spectrum

OAV spectrum · Oculoauriculovertebral spectrum

ORPHA:141132

Fibrous dysplasia/McCune-Albright syndrome

Fibrous dysplasia/McCune-Albright spectrum · FD/MAS spectrum

ORPHA:595216

Multicentric osteolysis-nodulosis-arthropathy spectrum

MONA spectrum

ORPHA:371428

Otopalatodigital syndrome spectrum disorder

OPSD · OPD spectrum disorder

ORPHA:364541