462:, have no apparent pattern of distribution but are simply rare. The classification of other conditions depends in part on the population being studied: All forms of cancer in children are generally considered rare, because so few children develop cancer, but the same cancer in adults may be more common.
574:
which "aims to ensure no one gets left behind just because they have a rare disease", with 51 recommendations for care and treatment across the UK to be implemented by 2020. Health services in the four constituent countries agreed to adopt implementation plans by 2014, but by
October 2016, the Health
465:
Estimating the incidence and prevalence of rare diseases is a complex process due to their wide range of prevalence rates. Rare diseases with higher prevalences can be estimated through a screening panel or patient registries, while diseases which are exceedingly rare may only be able to be estimated
431:(EURORDIS) estimates that between 3.5 and 5.9% of the world's population is affected by one of approx. 6,000 distinct rare diseases identified to-date. European Union has suggested that between 6 and 8% of the European population could be affected by a rare disease sometime in their lives.
49:
Most rare diseases are genetic in origin and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays.
389:
includes both rare diseases and any non-rare diseases "for which there is no reasonable expectation that the cost of developing and making available in the United States a drug for such disease or condition will recovered from sales in the United States of such drug" as
89:
There is no single, widely accepted definition for rare diseases. Some definitions rely solely on the number of people living with a disease, and other definitions include other factors, such as the existence of adequate treatments or the severity of the disease.
874:
Haendel, Melissa; Vasilevsky, Nicole; Unni, Deepak; Bologa, Cristian; Harris, Nomi; Rehm, Heidi; Hamosh, Ada; Baynam, Gareth; Groza, Tudor; McMurry, Julie; Dawkins, Hugh; Rath, Ana; Thaxon, Courtney; Bocci, Giovanni; Joachimiak, Marcin P. (February 2020).
599:, a policy paper which included a commitment that the four nations would develop action plans, working with the rare disease community, and that "where possible, each nation will aim to publish the action plans in 2021". NHS England published
639:, on February 29, the rarest day) to raise awareness for rare diseases. There are a number of non-profit and charitable organisations which push for further awareness, interest, and engagement in the subject of rare diseases, including
457:
can result in a disease that is very rare worldwide being prevalent within the smaller community. Many infectious diseases are prevalent in a given geographic area but rare everywhere else. Other diseases, such as many rare forms of
558:(ORDR) was established by H.R. 4013/Public Law 107–280 in 2002. H.R. 4014, signed the same day, refers to the "Rare Diseases Orphan Product Development Act". Similar initiatives have been proposed in Europe. The ORDR also runs the
128:
is later defined as generally meaning fewer than 1 in 2,000 people. Diseases that are statistically rare, but not also life-threatening, chronically debilitating, or inadequately treated, are excluded from their definition.
466:
through a multi-step nationwide reporting process or case reports. Therefore, the data is often incomplete and complex to amalgamate, compare, and update continually. The
Genetic and Rare Diseases Information Center at the
105:
strictly according to prevalence, specifically "any disease or condition that affects fewer than 200,000 people in the United States", or about 1 in 1,500 people. This definition is essentially the same as that of the
611:
Organisations around the world are exploring ways of involving people affected by rare diseases in helping shape future research, including using online methods to explore the perspectives of multiple stakeholders.
61:
While no single number has been agreed upon for which a disease is considered rare, several efforts have been undertaken to estimate the number of unique rare diseases. In 2019, the
738:
1188:
Nguengang Wakap, Stéphanie; Lambert, Deborah M.; Olry, Annie; Rodwell, Charlotte; Gueydan, Charlotte; Lanneau, Valérie; Murphy, Daniel; Le Cam, Yann; Rath, Ana (2020).
470:
curates and compiles rare disease prevalence and incidence from PubMed articles and abstracts using a combination of deep learning algorithms and rare disease experts.
1793:
42:
describes a rare disease whose rarity results in little or no funding or research for treatments, without financial incentives from governments or other agencies.
1510:
437:
Rare diseases can vary in prevalence between populations, so a disease that is rare in some populations may be common in others. This is especially true of
1612:
1260:
467:
54:
is considered the rarest known genetic disease, affecting two known individuals, Catherine and
Kirstie Fields. With four diagnosed patients in 27 years,
51:
1482:
1286:
Kariampuzha, William; Alyea, Gioconda; Qu, Sue; Sanjak, Jaleal; Mathé, Ewy; Sid, Eric; Chatelaine, Haley; Yadaw, Arjun; Xu, Yanji; Zhu, Qian (2023).
1749:
1559:
73:. This was the first count since 1983, demonstrating that there were >10,500 rare diseases where prior estimates had been ~7,000 in the
81:
has also estimated that currently approximately 10,000 rare diseases exist globally, with 80% of these having identified genetic origins.
965:
1586:
1100:
113:
In Japan, the legal definition of a rare disease is one that affects fewer than 50,000 patients in Japan, or about 1 in 2,500 people.
1125:
370:
Because of definitions that include reference to treatment availability, a lack of resources, and severity of the disease, the term
661:
559:
428:
398:
55:
742:
1427:
65:
released a rare disease subset of the Mondo ontology that reconciles a wide variety of rare disease knowledge sources, such as
1717:
434:
About 80% of rare diseases have a genetic component and only about 400 have therapies, according to Rare
Genomics Institute.
562:(RDCRN). The RDCRN provides support for clinical studies and facilitating collaboration, study enrollment and data sharing.
497:
A rare disease is defined as one that affects fewer than 200,000 people across a broad range of possible disorders. Chronic
766:"The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency"
592:
124:
debilitating diseases which are of such low prevalence that special combined efforts are needed to address them". The term
1847:
66:
682:
688:
1409:
819:
Kaur, Parneet; Wamelink, Mirjam M. C.; van der Knaap, Marjo S.; Girisha, Katta Mohan; Shukla, Anju (1 August 2019).
555:
312:
1767:
169:
1264:
765:
17:
1016:
576:
677:
666:
1689:
1508:
402:
325:
136:
and by national health plans are similarly divided, with definitions ranging from 1/1,000 to 1/200,000.
1163:
994:
820:
501:
diseases are commonly classified as rare. Among numerous possibilities, rare diseases may result from
1753:
1512:
Leaving No One Behind: Why
England needs an implementation plan for the UK Strategy for Rare Diseases
581:
Leaving No One Behind: Why
England needs an implementation plan for the UK Strategy for Rare Diseases
299:
98:
453:
but relatively common in Europe and in populations of
European descent. In smaller communities, the
1852:
1445:
1438:
486:
478:
417:
195:
182:
764:
Wamelink MM, GrĂĽning NM, Jansen EE, Bluemlein K, Lehrach H, Jakobs C, Ralser M (September 2010).
286:
221:
107:
74:
420:(number of new diagnoses in a given year), is used to describe the impact of rare diseases. The
1898:
482:
62:
1347:. National Center for Advancing Translational Sciences, US National Institutes of Health. 2019
821:"Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA"
110:, a federal law that was written to encourage research into rare diseases and possible cures.
1366:
Aymé S, Schmidtke J (December 2007). "Networking for rare diseases: a necessity for Europe".
712:
273:
1190:"Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database"
1538:"The Westminster All Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions"
1509:
All Party
Parliamentary Group on Rare, Genetic and Undiagnosed Conditions (February 2017).
1138:
518:
421:
338:
260:
247:
234:
156:
1042:
8:
644:
208:
117:
1420:
38:
that affects a small percentage of the population. In some parts of the world, the term
1722:
1666:
1639:
1391:
1314:
1287:
1222:
1189:
909:
876:
856:
801:
717:
700:
522:
442:
351:
133:
121:
1727:
1671:
1383:
1319:
1227:
1209:
1076:"KEI Briefing Note 2020:4 Selected Government Definitions of Orphan or Rare Diseases"
1057:
914:
896:
860:
848:
840:
793:
706:
1431:
1395:
805:
1661:
1651:
1375:
1309:
1299:
1217:
1201:
904:
888:
832:
785:
777:
695:
620:
534:
1640:"Involving people affected by a rare condition in shaping future genomic research"
526:
446:
438:
386:
587:
would develop an implementation plan. In
January 2018 NHS England published its
1656:
1304:
892:
836:
454:
379:
1379:
1205:
781:
1892:
1344:
1213:
900:
844:
94:
1464:
424:
estimates some 300 million people worldwide are affected by a rare disease.
1675:
1537:
1387:
1323:
1231:
1061:
940:
918:
852:
797:
78:
43:
1794:"Rare Diseases Day: Experts call for more research for patients' welfare"
1771:
1288:"Precision information extraction for rare disease epidemiology at scale"
584:
1041:
Baldovino S, Moliner AM, Taruscio D, Daina E, Roccatello D (June 2016).
416:(number of people living with a disease at a given moment), rather than
1855:
at GARD, The United States
Genetic and Rare Diseases Information Center
514:
413:
140:
Definitions of rare disease in different countries: an incomplete list
1883:
1819:
1075:
789:
636:
932:
1862:
1144:. European Organisation for Rare Diseases (EURORDIS). November 2005
671:
640:
502:
498:
70:
1873:
1402:
1368:
Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz
1187:
510:
474:
35:
818:
628:
624:
459:
120:
on Public Health defines rare diseases as "life-threatening or
763:
579:
on Rare, Genetic and Undiagnosed Conditions produced a report
1043:"Rare Diseases in Europe: from a Wide to a Local Perspective"
1040:
632:
506:
1878:
1867:
1017:"Useful Information on Rare Diseases from an EU Perspective"
873:
530:
450:
1752:. National Organization for Rare Disorders. Archived from
1139:"Rare Diseases: Understanding This Public Health Priority"
1750:"Join Us In Observing Rare Disease Day On Feb. 28, 2009!"
1561:
Implementation Plan for the UK Strategy for Rare Diseases
589:
Implementation Plan for the UK Strategy for Rare Diseases
551:
1705:
chosen because 29 February is the rarest day of the year
1285:
540:
1858:
481:. Similarly, there are rare genetic diseases among the
473:
About 40 rare diseases have a far higher prevalence in
1593:. Department of Health and Social Care. 9 January 2021
1428:"NORD – National Organization for Rare Disorders, Inc"
583:
in February 2017. In March 2017 it was announced that
27:
Disease affecting a small percentage of the population
1637:
1249:. St. Louis, MO: Rare Genomics Institute. p. 6.
468:
National Center for Advancing Translational Sciences
1768:"Millions Around World to Observe Rare Disease Day"
1263:. Ecpc-online.org. 28 February 2009. Archived from
1034:
575:Service in England had not produced a plan and the
382:, "orphan diseases" have a distinct legal meaning.
1638:Nunn JS, Gwynne K, Gray S, Lacaze P (March 2021).
674:(Online portal for rare diseases and orphan drugs)
365:
570:In 2013, the United Kingdom government published
449:, a genetic disease: it is rare in most parts of
1890:
1552:
997:. Rare diseases centre – Venetian Region – Italy
401:(EURORDIS) also includes both rare diseases and
662:National Organization for Rare Disorders (NORD)
1345:"Genetic and Rare Diseases Information Center"
1718:"February 29th Is The First Rare Disease Day"
1365:
1247:Rare Diseases, Diagnosis, Therapies, and Hope
1244:
405:into a larger category of "orphan diseases".
1359:
1475:
1261:"02/2009: Rare Cancers on Rare Disease Day"
995:"Rare diseases: what are we talking about?"
46:are medications targeting orphan diseases.
1463:Network, Rare Diseases Clinical Research.
485:religious communities in the US and among
151:Patient ratio standardised for comparison
1665:
1655:
1579:
1313:
1303:
1221:
960:
958:
908:
1868:National Organization for Rare Disorders
1760:
1619:. Department of Health & Social Care
1613:"England Rare Diseases Action Plan 2022"
1502:
1469:Rare Diseases Clinical Research Network
1339:
1337:
1335:
1333:
1131:
989:
987:
985:
983:
757:
741:. Siope.Eu. 9 June 2009. Archived from
560:Rare Diseases Clinical Research Network
429:European Organization for Rare Diseases
399:European Organization for Rare Diseases
56:ribose-5-phosphate isomerase deficiency
14:
1891:
1050:The Israel Medical Association Journal
955:
635:on the last day of February (thus, in
601:England Rare Diseases Action Plan 2022
1710:
1093:
541:Public research and government policy
1742:
1530:
1330:
1245:Sanfilippo, Ana; Lin, Jimmy (2014).
980:
825:European Journal of Medical Genetics
593:Department of Health and Social Care
374:is frequently used as a synonym for
1644:Research Involvement and Engagement
1462:
1414:georgewbush-whitehouse.archives.gov
877:"How many rare diseases are there?"
615:
378:. But in the United States and the
24:
1726:. 28 February 2008. Archived from
1194:European Journal of Human Genetics
683:List of rare disease organisations
667:Undiagnosed Diseases Network (UDN)
529:. Rare diseases may be chronic or
492:
477:; these are known collectively as
25:
1910:
1841:
1484:The UK Strategy for Rare Diseases
1292:Journal of Translational Medicine
1009:
689:Orphanet Journal of Rare Diseases
572:The UK Strategy for Rare Diseases
565:
58:is considered the second rarest.
1587:"The UK Rare Diseases Framework"
1410:"President Signs Bills into Law"
1101:"The UK Rare Diseases Framework"
606:
556:Office of Rare Diseases Research
545:
1812:
1786:
1682:
1631:
1605:
1456:
1279:
1253:
1238:
1181:
1156:
1119:
1080:Knowledge Ecology International
1068:
366:Relationship to orphan diseases
1567:. NHS England. 29 January 2018
925:
881:Nature Reviews. Drug Discovery
867:
812:
731:
13:
1:
770:Journal of Molecular Medicine
724:
577:all-party parliamentary group
535:short-term medical conditions
408:
84:
1490:. Department of Health. 2013
678:ICD coding for rare diseases
132:The definitions used in the
7:
1879:Rare diseases search engine
1824:rarerevolutionmagazine.com/
654:
525:causes, affecting any body
10:
1915:
1820:"Rare Revolution Magazine"
1657:10.1186/s40900-021-00256-3
1305:10.1186/s12967-023-04011-y
966:"Rare Disease Act of 2002"
893:10.1038/d41573-019-00180-y
837:10.1016/j.ejmg.2019.103708
597:UK Rare Diseases Framework
174:<200,000 in population
1859:Database of rare diseases
1853:Database of rare diseases
1450:OrphaNews – International
1380:10.1007/s00103-007-0381-9
1206:10.1038/s41431-019-0508-0
1164:"What is a rare disease?"
782:10.1007/s00109-010-0634-1
631:, the United States, and
330:<50,000 in population
148:Patient ratio as defined
99:Rare Diseases Act of 2002
1884:Rare Revolution Magazine
968:. United States Congress
649:Rare Revolution Magazine
537:are also rare diseases.
487:ethnically Jewish people
479:Finnish heritage disease
108:Orphan Drug Act of 1983
591:. In January 2021 the
1540:. Genetic Alliance UK
1022:. European Commission
713:Health care rationing
1756:on 18 December 2008.
422:Global Genes Project
645:Genetic Alliance UK
443:infectious diseases
385:The United States'
141:
118:European Commission
1800:. 28 February 2021
1798:The Indian Express
1774:. 13 February 2009
1723:Medical News Today
1690:"Rare Disease Day"
745:on 3 December 2012
718:Ultra-rare disease
701:Idiopathic disease
692:(academic journal)
603:in February 2022.
403:neglected diseases
339:Russian Federation
139:
134:medical literature
63:Monarch Initiative
1518:. Rare Disease UK
707:Mystery Diagnosis
363:
362:
16:(Redirected from
1906:
1835:
1834:
1832:
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1810:
1809:
1807:
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1784:
1783:
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1757:
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1735:
1714:
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1707:
1702:
1700:
1694:Genetic Alliance
1686:
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1659:
1635:
1629:
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1609:
1603:
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1523:
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1500:
1499:
1497:
1495:
1489:
1479:
1473:
1472:
1460:
1454:
1453:
1442:
1436:
1435:
1434:on 18 June 2008.
1430:. Archived from
1424:
1418:
1417:
1406:
1400:
1399:
1363:
1357:
1356:
1354:
1352:
1341:
1328:
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1179:
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1135:
1129:
1123:
1117:
1116:
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1112:
1107:. 9 January 2021
1097:
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1090:
1088:
1086:
1072:
1066:
1065:
1047:
1038:
1032:
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1029:
1027:
1021:
1013:
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1006:
1004:
1002:
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922:
912:
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810:
809:
761:
755:
754:
752:
750:
735:
696:Rare Disease Day
621:Rare Disease Day
616:Public awareness
533:, although many
445:. An example is
439:genetic diseases
142:
138:
52:Fields condition
21:
1914:
1913:
1909:
1908:
1907:
1905:
1904:
1903:
1889:
1888:
1874:Rare Disease UK
1870:(United States)
1844:
1839:
1838:
1828:
1826:
1818:
1817:
1813:
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1801:
1792:
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1787:
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1747:
1743:
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1541:
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1519:
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1491:
1487:
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1476:
1461:
1457:
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1443:
1439:
1426:
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1407:
1403:
1374:(12): 1477–83.
1364:
1360:
1350:
1348:
1343:
1342:
1331:
1284:
1280:
1270:
1268:
1267:on 26 July 2011
1259:
1258:
1254:
1243:
1239:
1186:
1182:
1172:
1170:
1162:
1161:
1157:
1147:
1145:
1141:
1137:
1136:
1132:
1126:Orphan Drug Act
1124:
1120:
1110:
1108:
1099:
1098:
1094:
1084:
1082:
1074:
1073:
1069:
1045:
1039:
1035:
1025:
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1019:
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1000:
998:
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969:
964:
963:
956:
946:
944:
943:. 15 April 2016
937:globalgenes.org
931:
930:
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872:
868:
817:
813:
762:
758:
748:
746:
739:"Rare Diseases"
737:
736:
732:
727:
722:
657:
618:
609:
568:
548:
543:
495:
493:Characteristics
447:cystic fibrosis
411:
392:orphan diseases
387:Orphan Drug Act
368:
87:
75:Orphan Drug Act
28:
23:
22:
15:
12:
11:
5:
1912:
1902:
1901:
1887:
1886:
1881:
1876:
1871:
1865:
1856:
1850:
1843:
1842:External links
1840:
1837:
1836:
1811:
1785:
1759:
1741:
1730:on 7 June 2020
1709:
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1604:
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1551:
1529:
1501:
1474:
1455:
1437:
1419:
1401:
1358:
1329:
1278:
1252:
1237:
1200:(2): 165–173.
1180:
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1118:
1092:
1067:
1033:
1008:
979:
954:
924:
866:
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756:
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698:
693:
685:
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675:
669:
664:
658:
656:
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617:
614:
608:
605:
595:published the
567:
566:United Kingdom
564:
547:
544:
542:
539:
494:
491:
455:founder effect
410:
407:
380:European Union
372:orphan disease
367:
364:
361:
360:
357:
354:
348:
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344:
343:10 in 100,000
341:
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313:United Kingdom
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161:65 in 100,000
159:
153:
152:
149:
146:
126:low prevalence
86:
83:
40:orphan disease
26:
18:Orphan disease
9:
6:
4:
3:
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1911:
1900:
1899:Rare diseases
1897:
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19:
1829:27 September
1827:. Retrieved
1823:
1814:
1804:12 September
1802:. Retrieved
1797:
1788:
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1762:
1754:the original
1744:
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1728:the original
1721:
1712:
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1449:
1446:"Newsletter"
1440:
1432:the original
1422:
1413:
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1367:
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1349:. Retrieved
1295:
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1271:24 September
1269:. Retrieved
1265:the original
1255:
1246:
1240:
1197:
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1183:
1171:. Retrieved
1168:eurordis.org
1167:
1158:
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1133:
1121:
1111:12 September
1109:. Retrieved
1104:
1095:
1085:12 September
1083:. Retrieved
1079:
1070:
1053:
1049:
1036:
1024:. Retrieved
1011:
999:. Retrieved
970:. Retrieved
945:. Retrieved
941:Global Genes
936:
927:
887:(2): 77–78.
884:
880:
869:
828:
824:
814:
776:(9): 931–9.
773:
769:
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749:24 September
747:. Retrieved
743:the original
733:
705:
687:
648:
619:
610:
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519:degenerative
509:infections,
496:
472:
464:
436:
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426:
412:
396:
391:
384:
376:rare disease
375:
371:
369:
346:1 in 10,000
304:5 in 10,000
265:5 in 10,000
252:5 in 10,000
239:5 in 10,000
213:5 in 10,000
200:5 in 10,000
131:
125:
115:
112:
103:rare disease
102:
92:
88:
79:Global Genes
60:
48:
44:Orphan drugs
39:
32:rare disease
31:
29:
1778:14 February
1772:PR Newswire
1734:14 February
1699:29 February
933:"RARE List"
623:is held in
585:NHS England
517:disorders,
333:1 in 2,507
320:1 in 2,000
317:1 in 2,000
307:1 in 2,000
300:Switzerland
294:1 in 2,000
291:1 in 2,000
281:1 in 2,000
278:1 in 2,000
268:1 in 2,000
255:1 in 2,000
242:1 in 2,000
229:1 in 2,000
226:1 in 2,000
216:1 in 2,000
203:1 in 2,000
190:1 in 2,000
187:1 in 2,000
177:1 in 1,659
164:1 in 1,538
122:chronically
1848:ICD-11 FAQ
1597:12 January
1571:29 January
1544:26 October
1522:29 January
1494:26 October
1465:"About Us"
1351:12 October
1298:(1): 157.
1128:§526(a)(2)
1052:(Review).
1001:21 January
972:21 January
947:29 January
790:1871/34686
725:References
647:, and the
637:leap years
515:chromosome
414:Prevalence
409:Prevalence
85:Definition
1650:(1): 14.
1214:1476-5438
901:1474-1776
861:195760193
845:1769-7212
531:incurable
511:allergies
503:bacterial
418:incidence
287:Singapore
196:Australia
183:Argentina
1893:Category
1863:Orphanet
1676:33722276
1623:22 March
1396:36072660
1388:18026888
1324:36855134
1232:31527858
1173:4 August
1062:27468531
919:32020066
853:31247379
806:10870492
798:20499043
672:Orphanet
655:See also
641:EURORDIS
222:Colombia
145:Country
101:defines
71:Orphanet
1667:7958104
1315:9972634
1223:6974615
910:7771654
499:genetic
475:Finland
93:In the
36:disease
1674:
1664:
1617:GOV.UK
1591:GOV.UK
1394:
1386:
1322:
1312:
1230:
1220:
1212:
1148:16 May
1105:GOV.UK
1060:
1026:19 May
917:
907:
899:
859:
851:
843:
804:
796:
629:Canada
625:Europe
460:cancer
274:Panama
261:Norway
248:Mexico
157:Brazil
97:, the
1565:(PDF)
1516:(PDF)
1488:(PDF)
1392:S2CID
1142:(PDF)
1046:(PDF)
1020:(PDF)
857:S2CID
802:S2CID
633:India
527:organ
507:viral
483:Amish
326:Japan
209:Chile
34:is a
1831:2023
1806:2021
1780:2009
1736:2009
1701:2024
1672:PMID
1625:2022
1599:2021
1573:2018
1546:2017
1524:2018
1496:2017
1384:PMID
1353:2019
1320:PMID
1273:2012
1228:PMID
1210:ISSN
1175:2022
1150:2009
1113:2021
1087:2021
1058:PMID
1028:2009
1003:2022
974:2022
949:2023
915:PMID
897:ISSN
849:PMID
841:ISSN
794:PMID
751:2012
550:The
521:and
451:Asia
441:and
427:The
397:The
352:Peru
116:The
69:and
67:OMIM
1861:at
1662:PMC
1652:doi
1376:doi
1310:PMC
1300:doi
1218:PMC
1202:doi
905:PMC
889:doi
833:doi
786:hdl
778:doi
554:'s
552:NIH
505:or
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