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: Polydactyly of a biphalangeal thumb, bilateral

OBSOLETE: Preaxial polydactyly type 1, bilateral

ORPHA:295146

OBSOLETE: Polydactyly of a biphalangeal thumb, unilateral

OBSOLETE: Preaxial polydactyly type 1, unilateral

ORPHA:295144

OBSOLETE: Polydactyly of a triphalangeal thumb, bilateral

OBSOLETE: Preaxial polydactyly type 2, bilateral · OBSOLETE: Bilateral PPD2

ORPHA:295150

OBSOLETE: Polydactyly of a triphalangeal thumb, unilateral

OBSOLETE: Preaxial polydactyly type 2, unilateral · OBSOLETE: Unilateral PPD2

ORPHA:295148

OBSOLETE: Polydactyly of an index finger, bilateral

OBSOLETE: Preaxial polydactyly type 3, bilateral

ORPHA:295154

OBSOLETE: Polydactyly of an index finger, unilateral

OBSOLETE: Preaxial polydactyly type 3, unilateral

ORPHA:295152

OBSOLETE: Polymicrogyria-turricephaly-hypogenitalism syndrome

ORPHA:2925

OBSOLETE: Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies

ORPHA:208981

OBSOLETE: Polysyndactyly, bilateral

OBSOLETE: Preaxial polydactyly type 4, bilateral

ORPHA:295161

OBSOLETE: Polysyndactyly, unilateral

OBSOLETE: Preaxial polydactyly type 4, unilateral

ORPHA:295159

OBSOLETE: Pore-loop channelopathy

ORPHA:98101

OBSOLETE: Postaxial polydactyly of fingers

OBSOLETE: Postaxial polydactyly of hand

ORPHA:294942

OBSOLETE: Postaxial polydactyly of toes

OBSOLETE: Postaxial polydactyly of foot

ORPHA:295008

OBSOLETE: Postaxial polydactyly of toes, bilateral

ORPHA:295181

OBSOLETE: Postaxial polydactyly of toes, unilateral

ORPHA:295179

OBSOLETE: Postaxial polydactyly type A, bilateral

ORPHA:295165

OBSOLETE: Postaxial polydactyly type A, unilateral

ORPHA:295163

OBSOLETE: Postaxial polydactyly type B, bilateral

ORPHA:295169

OBSOLETE: Postaxial polydactyly type B, unilateral

ORPHA:295167

OBSOLETE: Posterior fossa tumors

ORPHA:99662

OBSOLETE: Postinfectious encephalitis

ORPHA:98253

OBSOLETE: Postsurgical hypopituitarism

ORPHA:95621

OBSOLETE: Posttraumatic diabetes insipidus

ORPHA:95625

OBSOLETE: Posttraumatic hypopituitarism

ORPHA:95623

OBSOLETE: Posttraumatic syringomyelia

ORPHA:99859

OBSOLETE: Preaxial polydactyly of fingers

OBSOLETE: Preaxial polydactyly of hand

ORPHA:294939

OBSOLETE: Preaxial polydactyly of toes

OBSOLETE: Bifid great toes · OBSOLETE: Preaxial polydactyly of foot

ORPHA:295006

OBSOLETE: Preaxial polydactyly of toes, bilateral

OBSOLETE: Bifid hallux, bilateral · OBSOLETE: Bifid halluces, bilateral

ORPHA:295177

OBSOLETE: Preaxial polydactyly of toes, unilateral

OBSOLETE: Bifid hallux, unilateral · OBSOLETE: Bifid halluces, unilateral

ORPHA:295175

OBSOLETE: Precancerous lesion of palpebral epidermis

ORPHA:98583

OBSOLETE: Preeyasombat-Varavithya syndrome

OBSOLETE: Short stature-hyperkaliemia-acidosis syndrome

ORPHA:2860

OBSOLETE: Primary glomerular disease

ORPHA:102373

OBSOLETE: Primary intraocular lymphoma

OBSOLETE: Primary vitreoretinal large B-cell lymphoma · OBSOLETE: PIOL

ORPHA:279904

OBSOLETE: Primary lymphedema with associated anomalies

ORPHA:458841

OBSOLETE: Primary parathyroid hyperplasia

OBSOLETE: Familial parathyroid hyperplasia · OBSOLETE: Hereditary parathyroid hyperplasia

ORPHA:99878

OBSOLETE: Primary peritoneal serous/papillary carcinoma

OBSOLETE: PPSPC

ORPHA:398980

OBSOLETE: Primary pigmented nodular adrenocortical disease

OBSOLETE: PPNAD · OBSOLETE: Primary pigmented nodular adrenal dysplasia

ORPHA:189439

OBSOLETE: Primary syringomyelia/hydromyelia

ORPHA:268871

OBSOLETE: Primary T cell immunodeficiency

ORPHA:2284

OBSOLETE: Progeria-associated arthropathy

ORPHA:99706

OBSOLETE: Progressive epilepsy and/or ataxia with myoclonus as a major feature

ORPHA:306762

OBSOLETE: Proton-pump inhibitor-responsive esophageal eosinophilia

ORPHA:411696

OBSOLETE: Pulmonary aortic stenosis obstructive uropathy

OBSOLETE: Kashani-Strom-Utley syndrome

ORPHA:1137

OBSOLETE: Pulmonary artery/pulmonary branch anomaly

ORPHA:98726

OBSOLETE: Radial hemimelia, bilateral

OBSOLETE: Radial longitidinal meromelia, bilateral

ORPHA:295071

OBSOLETE: Radial hemimelia, unilateral

OBSOLETE: Radial longitidinal meromelia, unilateral

ORPHA:295069

OBSOLETE: Radiation-induced hypopituitarism

ORPHA:95622

OBSOLETE: Radio-ulnar synostosis, bilateral

OBSOLETE: Radio-ulnar fusion, bilateral

ORPHA:295219