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 ×

Early-onset autosomal dominant Alzheimer disease

EOFAD · Early-onset familial autosomal dominant Alzheimer disease

ORPHA:1020

Autosomal dominant adult-onset proximal spinal muscular atrophy

Autosomal dominant adult-onset proximal SMA · Autosomal dominant late-onset spinal muscular atrophy, Finkel type

ORPHA:209335

Autosomal dominant polycystic kidney disease

ADPKD

ORPHA:730

Familial Alzheimer-like prion disease

ORPHA:280397

Hereditary late-onset Parkinson disease

Autosomal dominant late-onset Parkinson disease · LOPD

ORPHA:411602

Isolated polycystic liver disease

ADPCLD · Autosomal dominant polycystic liver disease

ORPHA:2924