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

OBSOLETE: Generalized epilepsy and praxis-induced seizures

ORPHA:99649

OBSOLETE: Genetic cerebrovascular dementia

ORPHA:371439

OBSOLETE: Genetic common variable immunodeficiency phenotype and related disorders

OBSOLETE: Genetic CVID phenotype and related disorders

ORPHA:700746

OBSOLETE: Genetic keratinization disorder associated with ocular features

ORPHA:98697

OBSOLETE: Genetic macular dystrophy

ORPHA:98664

OBSOLETE: Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome

OBSOLETE: Genetic MCA/variable MR · OBSOLETE: Genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome

ORPHA:330197

OBSOLETE: Genetic muscular channelopathy

ORPHA:352298

OBSOLETE: Genetic neurological channelopathy

ORPHA:98736

OBSOLETE: Genetic optic atrophy

ORPHA:103

OBSOLETE: Genetic primary hypomagnesemia

ORPHA:34526

OBSOLETE: Genetic primary hypomagnesemia with hypocalciuria

ORPHA:306519

OBSOLETE: Genetic primary hypomagnesemia with normocalciuria

ORPHA:306522

OBSOLETE: Genetic primary lymphedema

ORPHA:459530

OBSOLETE: Genetic vitreous-retinal disease

ORPHA:98657

OBSOLETE: Genodermatosis with ocular features

ORPHA:98696

OBSOLETE: Giant infantile hemangioma

ORPHA:210592

OBSOLETE: Glaucoma associated with neural crest cell migration anomaly

ORPHA:98632

OBSOLETE: Glycerol kinase deficiency, infantile form

ORPHA:284408

OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset

OBSOLETE: Glycogenosis due to acid maltase deficiency, adult onset · OBSOLETE: GSD type 2, adulte onset

ORPHA:308604

OBSOLETE: Glycogen storage disease due to acid maltase deficiency, juvenile onset

OBSOLETE: Glycogenosis due to acid maltase deficiency, juvenile onset · OBSOLETE: GSD type 2, juvenile onset

ORPHA:308573

OBSOLETE: GMPPB-related congenital muscular dystrophy

OBSOLETE: GMPPB-related CMD

ORPHA:363629

OBSOLETE: Goniodysgenesis

ORPHA:98633

OBSOLETE: Graft rejection after lung transplantation

ORPHA:91128

OBSOLETE: Granulomatous myositis

ORPHA:206979

OBSOLETE: Grix-Blankenship-Peterson syndrome

OBSOLETE: Craniofacial and osseous defects-intellectual disability syndrome

ORPHA:2099

OBSOLETE: Hand-Schüller-Christian disease

OBSOLETE: Multifocal eosinophilic granuloma · OBSOLETE: Chronic multifocal Langerhans cell histiocytosis

ORPHA:99873

OBSOLETE: Harmonic micromelia

ORPHA:93469

OBSOLETE: Hashimoto-Pritzker syndrome

OBSOLETE: Congenital Langerhans cell histiocytosis

ORPHA:99872

OBSOLETE: Heckenlively syndrome

ORPHA:2120

OBSOLETE: Heinz body anemia

ORPHA:178330

OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome

OBSOLETE: HIPO syndrome

ORPHA:2129

OBSOLETE: Hemochromatosis type 4

OBSOLETE: Ferroportin disease · OBSOLETE: Hemochromatosis due to defect in ferroportin

ORPHA:139491

OBSOLETE: Hemochromatosis type 5

ORPHA:447792

OBSOLETE: Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency

ORPHA:248305

OBSOLETE: Hepatic amyloidosis with intrahepatic cholestasis

OBSOLETE: Cholestatic hepatic amyloidosis

ORPHA:102069

OBSOLETE: Hereditary acrokeratotic poikiloderma of Kindler-Weary

ORPHA:306539

OBSOLETE: Hereditary epidermolysis bullosa associated with ocular features

ORPHA:263676

OBSOLETE: Hereditary iron overload with anemia

ORPHA:140432

OBSOLETE: Hereditary iron overload with neurologic manifestation

ORPHA:140428

OBSOLETE: Hereditary motor and sensory neuropathy

OBSOLETE: HMSN

ORPHA:140450

OBSOLETE: Hereditary pediatric Behçet-like disease

OBSOLETE: Behçet-like disease due to HA20 · OBSOLETE: Behçet-like disease due to haploinsufficiency of A20

ORPHA:476102

OBSOLETE: Hereditary thrombocytopenia-hematological cancer predisposition syndrome

OBSOLETE: Familial platelet disorder with predisposition to hematological cancer

ORPHA:477697

OBSOLETE: Heredodegenerative disease with dystonia as a major feature

ORPHA:98204

OBSOLETE: Herpes simplex virus keratitis

OBSOLETE: HSV keratitis · OBSOLETE: Herpetic keratitis

ORPHA:137586

OBSOLETE: High isolated anorectal malformation

ORPHA:171201

OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome

OBSOLETE: Wiedemann-Oldigs-Oppermann syndrome

ORPHA:2156

OBSOLETE: HIV-related anal cancer

ORPHA:443307

OBSOLETE: HIV-related cervical cancer

ORPHA:443322