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"

6 matching diseasesClear search ×

Keipert syndrome

Nasodigitoacoustic syndrome

ORPHA:2662

NAME syndrome

Nevi-atrial myxoma-myxoid neurofibromata-ephelides syndrome

ORPHA:623

NARP syndrome

Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome · Neuropathy-ataxia-retinitis pigmentosa syndrome

ORPHA:644

Nodulosis-arthropathy-osteolysis syndrome

NAO syndrome

ORPHA:85196

Vogt-Koyanagi-Harada disease

Uveomenigitic syndrome

ORPHA:3437

Wildervanck syndrome

Cervicooculoacoustic syndrome

ORPHA:3456