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"

34 matching diseasesClear search ×

Inherited human prion disease

Familial prion disease · Genetic human prion disease

ORPHA:280400

Genetic biliary tract disease

ORPHA:156607

Genetic cardiac rhythm disease

ORPHA:101934

Genetic cystic renal disease

Hereditary cystic renal disease

ORPHA:93587

Genetic endocrine growth disease

ORPHA:156643

Genetic gastro-esophageal disease

ORPHA:165658

Genetic glomerular disease

ORPHA:183586

Genetic intestinal disease

ORPHA:165655

Genetic neurodegenerative disease

ORPHA:183500

Genetic neuromuscular disease

ORPHA:183497

Genetic pancreatic disease

ORPHA:165661

Genetic parenchymatous liver disease

ORPHA:156604

Genetic renal tubular disease

ORPHA:183592

Genetic skeletal muscle disease

ORPHA:206634

Human prion disease

TSE · Transmissible spongiform encephalopathy

ORPHA:56970

Non-genetic cardiac rhythm disease

ORPHA:218439

Other genetic epidermal disease

ORPHA:79360

Rare genetic adrenal disease

ORPHA:183637

Rare genetic bone disease

ORPHA:183524

Rare genetic cardiac disease

ORPHA:98054

Rare genetic disease

ORPHA:98053

Rare genetic endocrine disease

ORPHA:156638

Rare genetic eye disease

Rare genetic ophthalmologic disease

ORPHA:101435

Rare genetic hematologic disease

ORPHA:158300

Rare genetic hepatic disease

ORPHA:156601

Rare genetic immune disease

ORPHA:183770

Rare genetic medullar disease

ORPHA:183515

Rare genetic odontologic disease

ORPHA:77830

Rare genetic renal disease

ORPHA:98056

Rare genetic respiratory disease

ORPHA:156610

Rare genetic skin disease

Rare genodermatosis

ORPHA:68346

Rare genetic thyroid disease

ORPHA:183631

Rare genetic urogenital disease

ORPHA:156619

Rare genetic vascular disease

ORPHA:233655