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"

10,911 rare diseases

Rare hemorrhagic disorder due to an acquired coagulation factor defect

Rare bleeding disorder due to an acquired coagulation factor defect · Rare coagulopathy due to an acquired coagulation factor defect

ORPHA:166775

Rare hemorrhagic disorder due to an acquired platelet anomaly

Rare bleeding disorder due to an acquired platelet anomaly · Rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia

ORPHA:248347

Rare hepatic and biliary tract tumor

ORPHA:101943

Rare hepatic disease

ORPHA:57146

Rare hereditary autoinflammatory disease

ORPHA:619238

Rare hereditary connective tissue disease

ORPHA:619249

Rare hereditary disease with avascular necrosis

ORPHA:399185

Rare hereditary disease with peripheral neuropathy

ORPHA:207015

Rare hereditary hemochromatosis

Iron overload disease

ORPHA:220489

Rare hereditary metabolic disease with peripheral neuropathy

ORPHA:207018

Rare hereditary neurologic disease with peripheral neuropathy

ORPHA:207025

Rare hereditary systemic disease with peripheral neuropathy

ORPHA:207021

Rare hereditary thrombophilia

ORPHA:217454

Rare hypercholesterolemia

ORPHA:477811

Rare hyperkinetic movement disorder

ORPHA:494457

Rare hyperlipidemia

ORPHA:181422

Rare hyperopia and astigmatism

ORPHA:98621

Rare hyperparathyroidism

ORPHA:181408

Rare hyperthyroidism

ORPHA:181399

Rare hypertrophic cardiomyopathy

ORPHA:217569

Rare hypoaldosteronism

ORPHA:181419

Rare hypolipidemia

ORPHA:181431

Rare hypothalamic or pituitary disease

ORPHA:181384

Rare hypothyroidism

ORPHA:181396

Rare idiopathic macular telangiectasia

ORPHA:482092

Rare immune disease

ORPHA:98004

Rare inborn errors of metabolism

Rare metabolic disease

ORPHA:68367

Rare infantile hemangioma

Infantile hemangioma of rare localization

ORPHA:210589

Rare infertility

ORPHA:98047

Rare inflammatory bowel disease

ORPHA:104012

Rare inflammatory/autoimmune corneal disorder

ORPHA:519290

Rare insulin-resistance syndrome

ORPHA:181368

Rare intellectual disability

ORPHA:87277

Rare intestinal disease

ORPHA:117569

Rare intoxication due to medical products

ORPHA:306640

Rare isolated myopia

ORPHA:98619

Rare lens disease

ORPHA:98639

Rare lichen planus

Rare LP

ORPHA:254367

Rare macular disorder

ORPHA:519313

Rare male infertility

ORPHA:98048

Rare male infertility due to adrenal disorder

ORPHA:399584

Rare male infertility due to adrenal disorder of genetic origin

ORPHA:399994

Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder

Rare male infertility due to gonadotropic axis disorder · Rare male infertility due to hypothalamic-pituitary-testicular axis disorder

ORPHA:399572

Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin

Rare male infertility due to gonadotropic axis disorder of genetic origin · Rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin

ORPHA:399983

Rare male infertility due to testicular endocrine disorder

ORPHA:399685

Rare malignant breast tumor

Rare breast cancer

ORPHA:180257

Rare malignant epithelial tumor of liver and intrahepatic biliary tract

Rare malignant epithelial tumor of liver and IBT

ORPHA:424933

Rare maxillo-facial surgical disease

Rare maxillofacial anomaly

ORPHA:68329