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"

96 matching diseasesClear search ×

Genetic biliary tract disease

ORPHA:156607

Genetic cardiac rhythm disease

ORPHA:101934

Genetic cystic renal disease

Hereditary cystic renal disease

ORPHA:93587

Genetic difference of sex development

Genetic DSD · Genetic disorder of sex development

ORPHA:325690

Genetic endocrine growth disease

ORPHA:156643

Genetic gastro-esophageal disease

ORPHA:165658

Genetic glomerular disease

ORPHA:183586

Genetic interstitial lung disease

Genetic ILD

ORPHA:264992

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

Inherited human prion disease

Familial prion disease · Genetic human prion disease

ORPHA:280400

Non-genetic cardiac rhythm disease

ORPHA:218439

Other genetic epidermal disease

ORPHA:79360

Rare adrenal disease

ORPHA:101954

Rare allergic disease

Rare allergy

ORPHA:98050

Rare bone disease

ORPHA:93419

Rare cardiac disease

ORPHA:97929

Rare endocrine disease

ORPHA:97978

Rare gastroenterologic disease

ORPHA:97935

Rare genetic adrenal disease

ORPHA:183637

Rare genetic bone development disorder

Rare genetic skeletal development disorder

ORPHA:404584

Rare genetic bone disease

ORPHA:183524

Rare genetic cardiac disease

ORPHA:98054

Rare genetic coagulation disorder

ORPHA:183654

Rare genetic corneal disorder

ORPHA:522556

Rare genetic deafness

Rare genetic hearing loss

ORPHA:96210

Rare genetic diabetes mellitus

ORPHA:183625

Rare genetic disease

ORPHA:98053

Rare genetic disease with myoclonus as a major feature

ORPHA:307067

Rare genetic disorder of the pupil

ORPHA:522568

Rare genetic disorder with entropion

ORPHA:522530

Rare genetic disorder with strabismus

ORPHA:522518

Rare genetic dystonia

Rare genetic dystonic disorder

ORPHA:391799

Rare genetic endocrine disease

ORPHA:156638

Rare genetic epilepsy

ORPHA:183512

Rare genetic eye disease

Rare genetic ophthalmologic disease

ORPHA:101435

Rare genetic gastroenterological disease

ORPHA:165652

Rare genetic gynecological and obstetrical diseases

ORPHA:183731

Rare genetic headache

ORPHA:183509

Rare genetic hematologic disease

ORPHA:158300

Rare genetic hepatic disease

ORPHA:156601

Rare genetic hypothalamic or pituitary disease

ORPHA:183628

Rare genetic immune disease

ORPHA:183770