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 ×

Primary tethered cord syndrome

Primary tethered spinal cord syndrome

ORPHA:268861

Primary Fanconi renotubular syndrome

Primary Fanconi renal syndrome · DeToni-Debré-Fanconi syndrome

ORPHA:3337

Primary short bowel syndrome

ORPHA:365563

Primary Sjögren disease

Primary Sjögren syndrome · Primary SjD

ORPHA:289390