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: Anomaly of chromosome 14

ORPHA:261739

OBSOLETE: Anomaly of chromosome 15

ORPHA:261742

OBSOLETE: Anomaly of chromosome 16

ORPHA:261745

OBSOLETE: Anomaly of chromosome 17

ORPHA:261748

OBSOLETE: Anomaly of chromosome 18

ORPHA:261751

OBSOLETE: Anomaly of chromosome 19

ORPHA:261754

OBSOLETE: Anomaly of chromosome 2

ORPHA:261700

OBSOLETE: Anomaly of chromosome 20

ORPHA:261757

OBSOLETE: Anomaly of chromosome 21

ORPHA:261760

OBSOLETE: Anomaly of chromosome 22

ORPHA:261763

OBSOLETE: Anomaly of chromosome 3

ORPHA:261703

OBSOLETE: Anomaly of chromosome 4

ORPHA:261706

OBSOLETE: Anomaly of chromosome 5

ORPHA:261709

OBSOLETE: Anomaly of chromosome 6

ORPHA:261712

OBSOLETE: Anomaly of chromosome 7

ORPHA:261715

OBSOLETE: Anomaly of chromosome 8

ORPHA:261718

OBSOLETE: Anomaly of chromosome 9

ORPHA:261721

OBSOLETE: Anomaly of the secretory and excretory apparatus of the lacrimal system

ORPHA:98608

OBSOLETE: Anophthalmia-esophageal-genital syndrome syndrome

ORPHA:99987

OBSOLETE: Antenatal Bartter syndrome

OBSOLETE: Bartter syndrome, furosemide-amiloride type · OBSOLETE: Hyperprostaglandin E syndrome

ORPHA:93604

OBSOLETE: Anthracycline extravasation

ORPHA:90079

OBSOLETE: Anti-HLA hyperimmunization

ORPHA:2194

OBSOLETE: Aortopulmonary coronary arterial course

ORPHA:99086

OBSOLETE: APC-related attenuated familial adenomatous polyposis

ORPHA:247806

OBSOLETE: Apodia, bilateral

OBSOLETE: Congenital absence of foot, bilateral

ORPHA:295107

OBSOLETE: Apodia, unilateral

OBSOLETE: Congenital absence of foot, unilateral

ORPHA:295105

OBSOLETE: Arbovirus fever

ORPHA:344

OBSOLETE: Aregenerative anemia

ORPHA:101096

OBSOLETE: Argyrophilic grain disease

OBSOLETE: Braak disease

ORPHA:97342

OBSOLETE: Arnold-Chiari malformation type II

OBSOLETE: Arnold-Chiari malformation type 2 · OBSOLETE: Chiari malformation type 2

ORPHA:1136

OBSOLETE: Arterial hypertension due to renal artery stenosis secondary to vasculitis

ORPHA:97599

OBSOLETE: Arthrogryposis due to muscular dystrophy

ORPHA:1155

OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder syndrome

ORPHA:1139

OBSOLETE: Aseptic osteitis

ORPHA:57194

OBSOLETE: Atlantoaxial subluxation

ORPHA:99666

OBSOLETE: ATR-X-related syndrome

ORPHA:263355

OBSOLETE: Atrichia-intellectual disability and growth delay syndrome

ORPHA:1211

OBSOLETE: Atrioventricular discordance

ORPHA:98730

OBSOLETE: Atypical hemolytic uremic syndrome with B factor anomaly

OBSOLETE: aHUS with B factor anomaly · OBSOLETE: D- HUS with B factor anomaly

ORPHA:93578

OBSOLETE: Atypical hemolytic uremic syndrome with C3 anomaly

OBSOLETE: Hemolytic uremic syndrome without diarrhea with C3 anomaly · OBSOLETE: aHUS with C3 anomaly

ORPHA:93575

OBSOLETE: Atypical hemolytic uremic syndrome with H factor anomaly

OBSOLETE: aHUS with H factor anomaly · OBSOLETE: D- HUS with H factor anomaly

ORPHA:93579

OBSOLETE: Atypical hemolytic uremic syndrome with I factor anomaly

OBSOLETE: Hemolytic uremic syndrome without diarrhea with I factor anomaly · OBSOLETE: aHUS with I factor anomaly

ORPHA:93580

OBSOLETE: Atypical hemolytic uremic syndrome with MCP/CD46 anomaly

OBSOLETE: D- HUS with MCP/CD46 anomaly · OBSOLETE: Atypical HUS with MCP/CD46 anomaly

ORPHA:93576

OBSOLETE: Atypical hemolytic uremic syndrome with thrombomodulin anomaly

OBSOLETE: aHUS with thrombomodulin anomaly · OBSOLETE: D- HUS with thrombomodulin anomaly

ORPHA:217023

OBSOLETE: Atypical teratoid/rhabdoid tumor

OBSOLETE: AT/RT

ORPHA:251891

OBSOLETE: Auriculoocular anomalies-cleft lip syndrome

ORPHA:71270

OBSOLETE: Autoimmune enteropathy type 2

ORPHA:103916

OBSOLETE: Autoimmune enteropathy type 3

ORPHA:103917