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"

9 matching diseasesClear search ×

Neuroferritinopathy

Adult basal ganglia disease · Ferritin-related neurodegeneration

ORPHA:157846

Adult CLN1 disease

Adult neuronal ceroid lipofuscinosis type 1 · Céroïde lipofuscinose neuronale adulte type 1

ORPHA:699745

Adult CLN5 disease

Adult neuronal ceroid lipofuscinosis type 5

ORPHA:699812

Adult CLN6 disease

Adult neuronal ceroid lipofuscinosis type 6

ORPHA:700477

Adult hypophosphatasia

Adult Rathbun disease · Adult phosphoethanolaminuria

ORPHA:247676

Adult Krabbe disease

ORPHA:206448

Adult Refsum disease

Classic Refsum disease · HMSN 4

ORPHA:773

Adult-onset Still disease

AOSD · Wissler-Fanconi syndrome

ORPHA:829

Biotin-thiamine-responsive basal ganglia disease

BBGD · BTBGD

ORPHA:65284