466:, 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.
578:
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
469:
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
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. With only four diagnosed
435:(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.
393:
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
93:
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.
878:
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).
603:, 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
643:, 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
461:
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
562:(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
132:
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.
470:
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
109:
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
615:
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
742:
1192:
Nguengang Wakap, Stéphanie; Lambert, Deborah M.; Olry, Annie; Rodwell, Charlotte; Gueydan, Charlotte; Lanneau, Valérie; Murphy, Daniel; Le Cam, Yann; Rath, Ana (2020).
474:
curates and compiles rare disease prevalence and incidence from PubMed articles and abstracts using a combination of deep learning algorithms and rare disease experts.
1797:
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.
1514:
441:
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
1616:
1264:
471:
55:
1486:
1290:
Kariampuzha, William; Alyea, Gioconda; Qu, Sue; Sanjak, Jaleal; Mathé, Ewy; Sid, Eric; Chatelaine, Haley; Yadaw, Arjun; Xu, Yanji; Zhu, Qian (2023).
1753:
1563:
77:. This was the first count since 1983, demonstrating that there were >10,500 rare diseases where prior estimates had been ~7,000 in the
85:
has also estimated that currently approximately 10,000 rare diseases exist globally, with 80% of these having identified genetic origins.
969:
1590:
1104:
117:
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.
1129:
374:
Because of definitions that include reference to treatment availability, a lack of resources, and severity of the disease, the term
665:
563:
432:
402:
51:
746:
1431:
1721:
438:
About 80% of rare diseases have a genetic component and only about 400 have therapies, according to Rare
Genomics Institute.
566:(RDCRN). The RDCRN provides support for clinical studies and facilitating collaboration, study enrollment and data sharing.
501:
A rare disease is defined as one that affects fewer than 200,000 people across a broad range of possible disorders. Chronic
770:"The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency"
596:
128:
debilitating diseases which are of such low prevalence that special combined efforts are needed to address them". The term
1851:
70:
686:
692:
1413:
823:
Kaur, Parneet; Wamelink, Mirjam M. C.; van der Knaap, Marjo S.; Girisha, Katta Mohan; Shukla, Anju (1 August 2019).
559:
316:
1771:
173:
17:
1268:
769:
1020:
580:
681:
670:
1693:
1512:
406:
329:
140:
and by national health plans are similarly divided, with definitions ranging from 1/1,000 to 1/200,000.
1167:
998:
824:
505:
diseases are commonly classified as rare. Among numerous possibilities, rare diseases may result from
1757:
1516:
Leaving No One Behind: Why
England needs an implementation plan for the UK Strategy for Rare Diseases
585:
Leaving No One Behind: Why
England needs an implementation plan for the UK Strategy for Rare Diseases
303:
102:
457:
but relatively common in Europe and in populations of
European descent. In smaller communities, the
1856:
1449:
1442:
490:
482:
421:
199:
186:
768:
Wamelink MM, GrĂĽning NM, Jansen EE, Bluemlein K, Lehrach H, Jakobs C, Ralser M (September 2010).
290:
225:
111:
78:
424:(number of new diagnoses in a given year), is used to describe the impact of rare diseases. The
1902:
486:
62:
1351:. National Center for Advancing Translational Sciences, US National Institutes of Health. 2019
825:"Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA"
114:, a federal law that was written to encourage research into rare diseases and possible cures.
1370:
Aymé S, Schmidtke J (December 2007). "Networking for rare diseases: a necessity for Europe".
716:
277:
1194:"Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database"
1542:"The Westminster All Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions"
1513:
All Party
Parliamentary Group on Rare, Genetic and Undiagnosed Conditions (February 2017).
1142:
522:
425:
342:
264:
251:
238:
160:
1046:
8:
648:
212:
121:
1424:
38:
that affects a small percentage of the population. In some parts of the world, the term
1726:
1670:
1643:
1395:
1318:
1291:
1226:
1193:
913:
880:
860:
805:
721:
704:
526:
446:
355:
137:
125:
1731:
1675:
1387:
1323:
1231:
1213:
1080:"KEI Briefing Note 2020:4 Selected Government Definitions of Orphan or Rare Diseases"
1061:
918:
900:
864:
852:
844:
797:
710:
1435:
1399:
809:
1665:
1655:
1379:
1313:
1303:
1221:
1205:
908:
892:
836:
789:
781:
699:
624:
538:
1644:"Involving people affected by a rare condition in shaping future genomic research"
530:
450:
442:
390:
591:
would develop an implementation plan. In
January 2018 NHS England published its
1660:
1308:
896:
840:
458:
383:
1383:
1209:
785:
1896:
1348:
1217:
904:
848:
98:
1468:
428:
estimates some 300 million people worldwide are affected by a rare disease.
1679:
1541:
1391:
1327:
1235:
1065:
944:
922:
856:
801:
82:
43:
69:
that reconciles a wide variety of rare disease knowledge sources, such as
1798:"Rare Diseases Day: Experts call for more research for patients' welfare"
1775:
1292:"Precision information extraction for rare disease epidemiology at scale"
588:
1045:
Baldovino S, Moliner AM, Taruscio D, Daina E, Roccatello D (June 2016).
420:(number of people living with a disease at a given moment), rather than
54:
is considered the 2nd rarest known genetic disease being beaten only by
1859:
at GARD, The United States
Genetic and Rare Diseases Information Center
518:
417:
144:
Definitions of rare disease in different countries: an incomplete list
66:
1887:
1823:
1079:
793:
640:
936:
1866:
1148:. European Organisation for Rare Diseases (EURORDIS). November 2005
675:
644:
506:
502:
74:
1877:
1406:
1372:
Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz
1191:
514:
478:
35:
822:
632:
628:
463:
124:
on Public Health defines rare diseases as "life-threatening or
58:
affecting two known individuals, Catherine and
Kirstie Fields.
767:
583:
on Rare, Genetic and Undiagnosed Conditions produced a report
1047:"Rare Diseases in Europe: from a Wide to a Local Perspective"
1044:
636:
510:
1882:
1871:
1021:"Useful Information on Rare Diseases from an EU Perspective"
877:
534:
454:
1756:. National Organization for Rare Disorders. Archived from
1143:"Rare Diseases: Understanding This Public Health Priority"
1754:"Join Us In Observing Rare Disease Day On Feb. 28, 2009!"
1565:
Implementation Plan for the UK Strategy for Rare Diseases
593:
Implementation Plan for the UK Strategy for Rare Diseases
555:
1709:
chosen because 29 February is the rarest day of the year
1289:
544:
1862:
485:. Similarly, there are rare genetic diseases among the
477:
About 40 rare diseases have a far higher prevalence in
1597:. Department of Health and Social Care. 9 January 2021
1432:"NORD – National Organization for Rare Disorders, Inc"
587:
in February 2017. In March 2017 it was announced that
27:
Disease affecting a small percentage of the population
1641:
1253:. St. Louis, MO: Rare Genomics Institute. p. 6.
472:
National Center for Advancing Translational Sciences
1772:"Millions Around World to Observe Rare Disease Day"
1267:. Ecpc-online.org. 28 February 2009. Archived from
1038:
579:Service in England had not produced a plan and the
386:, "orphan diseases" have a distinct legal meaning.
1642:Nunn JS, Gwynne K, Gray S, Lacaze P (March 2021).
678:(Online portal for rare diseases and orphan drugs)
369:
574:In 2013, the United Kingdom government published
453:, a genetic disease: it is rare in most parts of
1894:
1556:
1001:. Rare diseases centre – Venetian Region – Italy
405:(EURORDIS) also includes both rare diseases and
666:National Organization for Rare Disorders (NORD)
1349:"Genetic and Rare Diseases Information Center"
1722:"February 29th Is The First Rare Disease Day"
1369:
1251:Rare Diseases, Diagnosis, Therapies, and Hope
1248:
409:into a larger category of "orphan diseases".
1363:
1479:
1265:"02/2009: Rare Cancers on Rare Disease Day"
999:"Rare diseases: what are we talking about?"
46:are medications targeting orphan diseases.
1467:Network, Rare Diseases Clinical Research.
489:religious communities in the US and among
155:Patient ratio standardised for comparison
1669:
1659:
1583:
1317:
1307:
1225:
964:
962:
912:
1872:National Organization for Rare Disorders
1764:
1623:. Department of Health & Social Care
1617:"England Rare Diseases Action Plan 2022"
1506:
1473:Rare Diseases Clinical Research Network
1343:
1341:
1339:
1337:
1135:
993:
991:
989:
987:
761:
745:. Siope.Eu. 9 June 2009. Archived from
564:Rare Diseases Clinical Research Network
433:European Organization for Rare Diseases
403:European Organization for Rare Diseases
52:ribose-5-phosphate isomerase deficiency
14:
1895:
1054:The Israel Medical Association Journal
959:
639:on the last day of February (thus, in
605:England Rare Diseases Action Plan 2022
65:released a rare disease subset of the
1714:
1097:
545:Public research and government policy
1746:
1534:
1334:
1249:Sanfilippo, Ana; Lin, Jimmy (2014).
984:
829:European Journal of Medical Genetics
597:Department of Health and Social Care
378:is frequently used as a synonym for
1648:Research Involvement and Engagement
1466:
1418:georgewbush-whitehouse.archives.gov
881:"How many rare diseases are there?"
619:
382:. But in the United States and the
24:
1730:. 28 February 2008. Archived from
1198:European Journal of Human Genetics
687:List of rare disease organisations
671:Undiagnosed Diseases Network (UDN)
533:. Rare diseases may be chronic or
496:
481:; these are known collectively as
25:
1914:
1845:
1488:The UK Strategy for Rare Diseases
1296:Journal of Translational Medicine
1013:
693:Orphanet Journal of Rare Diseases
576:The UK Strategy for Rare Diseases
569:
1591:"The UK Rare Diseases Framework"
1414:"President Signs Bills into Law"
1105:"The UK Rare Diseases Framework"
610:
560:Office of Rare Diseases Research
549:
1816:
1790:
1686:
1635:
1609:
1460:
1283:
1257:
1242:
1185:
1160:
1123:
1084:Knowledge Ecology International
1072:
370:Relationship to orphan diseases
1571:. NHS England. 29 January 2018
929:
885:Nature Reviews. Drug Discovery
871:
816:
735:
13:
1:
774:Journal of Molecular Medicine
728:
581:all-party parliamentary group
539:short-term medical conditions
412:
88:
1494:. Department of Health. 2013
682:ICD coding for rare diseases
136:The definitions used in the
7:
1883:Rare diseases search engine
1828:rarerevolutionmagazine.com/
658:
529:causes, affecting any body
10:
1919:
1824:"Rare Revolution Magazine"
1661:10.1186/s40900-021-00256-3
1309:10.1186/s12967-023-04011-y
970:"Rare Disease Act of 2002"
897:10.1038/d41573-019-00180-y
841:10.1016/j.ejmg.2019.103708
601:UK Rare Diseases Framework
178:<200,000 in population
1863:Database of rare diseases
1857:Database of rare diseases
1454:OrphaNews – International
1384:10.1007/s00103-007-0381-9
1210:10.1038/s41431-019-0508-0
1168:"What is a rare disease?"
786:10.1007/s00109-010-0634-1
635:, the United States, and
334:<50,000 in population
152:Patient ratio as defined
103:Rare Diseases Act of 2002
1888:Rare Revolution Magazine
972:. United States Congress
653:Rare Revolution Magazine
541:are also rare diseases.
491:ethnically Jewish people
483:Finnish heritage disease
112:Orphan Drug Act of 1983
595:. In January 2021 the
50:patients in 27 years,
1544:. Genetic Alliance UK
1026:. European Commission
717:Health care rationing
1760:on 18 December 2008.
426:Global Genes Project
649:Genetic Alliance UK
447:infectious diseases
389:The United States'
145:
122:European Commission
1804:. 28 February 2021
1802:The Indian Express
1778:. 13 February 2009
1727:Medical News Today
1694:"Rare Disease Day"
749:on 3 December 2012
722:Ultra-rare disease
705:Idiopathic disease
696:(academic journal)
607:in February 2022.
407:neglected diseases
343:Russian Federation
143:
138:medical literature
63:Monarch Initiative
1522:. Rare Disease UK
711:Mystery Diagnosis
367:
366:
16:(Redirected from
1910:
1839:
1838:
1836:
1834:
1820:
1814:
1813:
1811:
1809:
1794:
1788:
1787:
1785:
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1762:
1761:
1750:
1744:
1743:
1741:
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1712:
1711:
1706:
1704:
1698:Genetic Alliance
1690:
1684:
1683:
1673:
1663:
1639:
1633:
1632:
1630:
1628:
1613:
1607:
1606:
1604:
1602:
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1578:
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1554:
1553:
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1549:
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1529:
1527:
1521:
1510:
1504:
1503:
1501:
1499:
1493:
1483:
1477:
1476:
1464:
1458:
1457:
1446:
1440:
1439:
1438:on 18 June 2008.
1434:. Archived from
1428:
1422:
1421:
1410:
1404:
1403:
1367:
1361:
1360:
1358:
1356:
1345:
1332:
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1182:
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1158:
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1147:
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1133:
1127:
1121:
1120:
1118:
1116:
1111:. 9 January 2021
1101:
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1094:
1092:
1090:
1076:
1070:
1069:
1051:
1042:
1036:
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1033:
1031:
1025:
1017:
1011:
1010:
1008:
1006:
995:
982:
981:
979:
977:
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957:
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954:
952:
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926:
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869:
868:
820:
814:
813:
765:
759:
758:
756:
754:
739:
700:Rare Disease Day
625:Rare Disease Day
620:Public awareness
537:, although many
449:. An example is
443:genetic diseases
146:
142:
56:Fields Condition
21:
1918:
1917:
1913:
1912:
1911:
1909:
1908:
1907:
1893:
1892:
1878:Rare Disease UK
1874:(United States)
1848:
1843:
1842:
1832:
1830:
1822:
1821:
1817:
1807:
1805:
1796:
1795:
1791:
1781:
1779:
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1765:
1752:
1751:
1747:
1737:
1735:
1720:
1719:
1715:
1702:
1700:
1692:
1691:
1687:
1640:
1636:
1626:
1624:
1615:
1614:
1610:
1600:
1598:
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1588:
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1574:
1572:
1568:
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1545:
1540:
1539:
1535:
1525:
1523:
1519:
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1497:
1495:
1491:
1485:
1484:
1480:
1465:
1461:
1448:
1447:
1443:
1430:
1429:
1425:
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1411:
1407:
1378:(12): 1477–83.
1368:
1364:
1354:
1352:
1347:
1346:
1335:
1288:
1284:
1274:
1272:
1271:on 26 July 2011
1263:
1262:
1258:
1247:
1243:
1190:
1186:
1176:
1174:
1166:
1165:
1161:
1151:
1149:
1145:
1141:
1140:
1136:
1130:Orphan Drug Act
1128:
1124:
1114:
1112:
1103:
1102:
1098:
1088:
1086:
1078:
1077:
1073:
1049:
1043:
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1029:
1027:
1023:
1019:
1018:
1014:
1004:
1002:
997:
996:
985:
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967:
960:
950:
948:
947:. 15 April 2016
941:globalgenes.org
935:
934:
930:
876:
872:
821:
817:
766:
762:
752:
750:
743:"Rare Diseases"
741:
740:
736:
731:
726:
661:
622:
613:
572:
552:
547:
499:
497:Characteristics
451:cystic fibrosis
415:
396:orphan diseases
391:Orphan Drug Act
372:
91:
79:Orphan Drug Act
28:
23:
22:
18:Orphan diseases
15:
12:
11:
5:
1916:
1906:
1905:
1891:
1890:
1885:
1880:
1875:
1869:
1860:
1854:
1847:
1846:External links
1844:
1841:
1840:
1815:
1789:
1763:
1745:
1734:on 7 June 2020
1713:
1685:
1634:
1608:
1582:
1555:
1533:
1505:
1478:
1459:
1441:
1423:
1405:
1362:
1333:
1282:
1256:
1241:
1204:(2): 165–173.
1184:
1159:
1134:
1122:
1096:
1071:
1037:
1012:
983:
958:
928:
870:
815:
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732:
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727:
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724:
719:
714:
707:
702:
697:
689:
684:
679:
673:
668:
662:
660:
657:
621:
618:
612:
609:
599:published the
571:
570:United Kingdom
568:
551:
548:
546:
543:
498:
495:
459:founder effect
414:
411:
384:European Union
376:orphan disease
371:
368:
365:
364:
361:
358:
352:
351:
348:
347:10 in 100,000
345:
339:
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317:United Kingdom
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165:65 in 100,000
163:
157:
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153:
150:
130:low prevalence
90:
87:
67:Mondo ontology
40:orphan disease
26:
9:
6:
4:
3:
2:
1915:
1904:
1903:Rare diseases
1901:
1900:
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550:United States
542:
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363:1 in 100,000
362:
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1833:27 September
1831:. Retrieved
1827:
1818:
1808:12 September
1806:. Retrieved
1801:
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1766:
1758:the original
1748:
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1732:the original
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1450:"Newsletter"
1444:
1436:the original
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1417:
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1365:
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1299:
1295:
1285:
1275:24 September
1273:. Retrieved
1269:the original
1259:
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1172:eurordis.org
1171:
1162:
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1137:
1125:
1115:12 September
1113:. Retrieved
1108:
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1089:12 September
1087:. Retrieved
1083:
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1053:
1040:
1028:. Retrieved
1015:
1003:. Retrieved
974:. Retrieved
949:. Retrieved
945:Global Genes
940:
931:
891:(2): 77–78.
888:
884:
873:
832:
828:
818:
780:(9): 931–9.
777:
773:
763:
753:24 September
751:. Retrieved
747:the original
737:
709:
691:
652:
623:
614:
604:
600:
592:
584:
575:
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553:
523:degenerative
513:infections,
500:
476:
468:
440:
437:
430:
416:
400:
395:
388:
380:rare disease
379:
375:
373:
350:1 in 10,000
308:5 in 10,000
269:5 in 10,000
256:5 in 10,000
243:5 in 10,000
217:5 in 10,000
204:5 in 10,000
135:
129:
119:
116:
107:rare disease
106:
96:
92:
83:Global Genes
60:
48:
44:Orphan drugs
39:
32:rare disease
31:
29:
1782:14 February
1776:PR Newswire
1738:14 February
1703:29 February
937:"RARE List"
627:is held in
589:NHS England
521:disorders,
337:1 in 2,507
324:1 in 2,000
321:1 in 2,000
311:1 in 2,000
304:Switzerland
298:1 in 2,000
295:1 in 2,000
285:1 in 2,000
282:1 in 2,000
272:1 in 2,000
259:1 in 2,000
246:1 in 2,000
233:1 in 2,000
230:1 in 2,000
220:1 in 2,000
207:1 in 2,000
194:1 in 2,000
191:1 in 2,000
181:1 in 1,659
168:1 in 1,538
126:chronically
1852:ICD-11 FAQ
1601:12 January
1575:29 January
1548:26 October
1526:29 January
1498:26 October
1469:"About Us"
1355:12 October
1302:(1): 157.
1132:§526(a)(2)
1056:(Review).
1005:21 January
976:21 January
951:29 January
794:1871/34686
729:References
651:, and the
641:leap years
519:chromosome
418:Prevalence
413:Prevalence
89:Definition
1654:(1): 14.
1218:1476-5438
905:1474-1776
865:195760193
849:1769-7212
535:incurable
515:allergies
507:bacterial
422:incidence
291:Singapore
200:Australia
187:Argentina
1897:Category
1867:Orphanet
1680:33722276
1627:22 March
1400:36072660
1392:18026888
1328:36855134
1236:31527858
1177:4 August
1066:27468531
923:32020066
857:31247379
810:10870492
802:20499043
676:Orphanet
659:See also
645:EURORDIS
226:Colombia
149:Country
105:defines
75:Orphanet
1671:7958104
1319:9972634
1227:6974615
914:7771654
503:genetic
479:Finland
97:In the
36:disease
1678:
1668:
1621:GOV.UK
1595:GOV.UK
1398:
1390:
1326:
1316:
1234:
1224:
1216:
1152:16 May
1109:GOV.UK
1064:
1030:19 May
921:
911:
903:
863:
855:
847:
808:
800:
633:Canada
629:Europe
464:cancer
278:Panama
265:Norway
252:Mexico
161:Brazil
101:, the
1569:(PDF)
1520:(PDF)
1492:(PDF)
1396:S2CID
1146:(PDF)
1050:(PDF)
1024:(PDF)
861:S2CID
806:S2CID
637:India
531:organ
511:viral
487:Amish
330:Japan
213:Chile
34:is a
1835:2023
1810:2021
1784:2009
1740:2009
1705:2024
1676:PMID
1629:2022
1603:2021
1577:2018
1550:2017
1528:2018
1500:2017
1388:PMID
1357:2019
1324:PMID
1277:2012
1232:PMID
1214:ISSN
1179:2022
1154:2009
1117:2021
1091:2021
1062:PMID
1032:2009
1007:2022
978:2022
953:2023
919:PMID
901:ISSN
853:PMID
845:ISSN
798:PMID
755:2012
554:The
525:and
455:Asia
445:and
431:The
401:The
356:Peru
73:and
71:OMIM
1865:at
1666:PMC
1656:doi
1380:doi
1314:PMC
1304:doi
1222:PMC
1206:doi
909:PMC
893:doi
837:doi
790:hdl
782:doi
558:'s
556:NIH
509:or
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