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 ×

Human prion disease

TSE · Transmissible spongiform encephalopathy

ORPHA:56970

Baraitser-Winter cerebrofrontofacial syndrome

ORPHA:2995

Clark-Baraitser syndrome

ORPHA:600731

Nicolaides-Baraitser syndrome

Intellectual disability-sparse hair-brachydactyly syndrome

ORPHA:3051

Temple-Baraitser syndrome

Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome · TMBTS

ORPHA:420561

Virus-associated trichodysplasia spinulosa

Cyclosporine-induced folliculodystrophy · Pilomatrix dysplasia

ORPHA:228379