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searching for National Organization for Rare Disorders 393 found (470 total)

alternate case: national Organization for Rare Disorders

PHACE syndrome (1,143 words) [view diff] exact match in snippet view article find links to article

PMID 32916079. "PHACE Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2018-10-25. "PHACE

Dentin dysplasia (2,086 words) [view diff] exact match in snippet view article find links to article

"Dentin Dysplasia Type I - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2017-12-07. O Carroll

Jansen's metaphyseal chondrodysplasia (868 words) [view diff] exact match in snippet view article find links to article

Metaphyseal Chondrodysplasia - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2018-03-16. Joun,

Conradi–Hünermann syndrome (690 words) [view diff] exact match in snippet view article find links to article

National Organization for Rare Disorders. "Conradi Hünermann Syndrome - NORD (National Organization for Rare Disorders)". National Organization for Rare

Hydrocolpos (200 words) [view diff] exact match in snippet view article find links to article

"Bardet-Biedl Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2017-12-23. Voos,

Blue diaper syndrome (712 words) [view diff] exact match in snippet view article find links to article

"Blue Diaper Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2016-03-01. "Blue

Trisomy 9 (402 words) [view diff] exact match in snippet view article find links to article

NORD - National Organization for Rare Disorders, Inc. Chromosome 9, Trisomy 9p (Multiple Variants) NORD - National Organization for Rare Disorders, Inc

Pineocytoma (330 words) [view diff] exact match in snippet view article find links to article

resection, and radiation. Pineal gland "National Organization for Rare Disorders". National Organization for Rare Disorders. June 16, 2022. Retrieved November

Gastric folds (453 words) [view diff] exact match in snippet view article find links to article

"Gastritis, Giant Hypertrophic - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 9 December 2017. Butz

Maffucci syndrome (454 words) [view diff] exact match in snippet view article find links to article

gov. Retrieved 2022-11-18. "Maffucci Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2022-11-18. "Maffucci syndrome: MedlinePlus

Osteochondrodysplasia (2,785 words) [view diff] exact match in snippet view article find links to article

Retrieved 2022-11-18. "Mucopolysaccharidoses". NORD (National Organization for Rare Disorders). Retrieved 2022-11-18. "Mucopolysaccharidoses - Children's

XY gonadal dysgenesis (1,760 words) [view diff] exact match in snippet view article find links to article

1016/j.jpurol.2012.12.002. PMID 23276787. "Swyer syndrome". National Organization for Rare Disorders (NORD). Eh, Zheng; Liu, Weili (June 1994). "A familial

Phocomelia (2,057 words) [view diff] exact match in snippet view article find links to article

to their close "attachment to the body". According to National Organization for Rare Disorders (NORD), individuals carrying phocomelia syndrome will generally

MASA syndrome (949 words) [view diff] exact match in snippet view article find links to article

Retrieved 2020-04-30. "Agenesis of Corpus Callosum". NORD (National Organization for Rare Disorders). Retrieved 2020-04-30. Bissonnette, Bruno; Luginbuehl

Ameloblastic carcinoma (351 words) [view diff] exact match in snippet view article find links to article

occur within 5 years. "Ameloblastic Carcinoma - NORD (National Organization for Rare Disorders)". Retrieved 2015-09-22. Hari Ram (December 2010). "Ameloblastic

Hepatomegaly (1,271 words) [view diff] exact match in snippet view article find links to article

Ester Storage Disease - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Archived from the original on

Canavan disease (1,924 words) [view diff] exact match in snippet view article find links to article

2020. "Canavan Disease – NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2017-06-14. "Am I

Congenital bilateral perisylvian syndrome (307 words) [view diff] exact match in snippet view article find links to article

Bilateral Perisylvian Syndrome – NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2015-11-03.

Empty sella syndrome (808 words) [view diff] exact match in snippet view article find links to article

doi:10.1007/s00234-013-1207-0. PMC 3753687. PMID 23708942. National Organization for Rare Disorders (2003). NORD Guide to Rare Disorders. Lippincott Williams

ATR-16 syndrome (392 words) [view diff] exact match in snippet view article find links to article

2013. "ATR-16 Syndrome – NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2015-10-25. "Orphanet:

Congenital hypoplastic anemia (2,327 words) [view diff] exact match in snippet view article find links to article

Clinic, National Organization for Rare Disorders, WebMD, and Orphanet. Fanconi anemia - MedlinePlus, Cleveland Clinic, National Organization for Rare Disorders

Fountain syndrome (381 words) [view diff] exact match in snippet view article find links to article

Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2019-10-20. "Fountain Syndrome". NORD (National Organization for Rare Disorders). Retrieved

Pycnodysostosis (1,432 words) [view diff] exact match in snippet view article find links to article

PMID 8703060. S2CID 7188076. "Pycnodysostosis". NORD (National Organization for Rare Disorders). Retrieved 2021-11-21. Mujawar, Quais; Naganoor, Ravi;

Sodium/hydrogen exchanger 6 (593 words) [view diff] exact match in snippet view article find links to article

PMID 20130086. "Angelman Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). 2015. Retrieved 28 April 2017

Aplasia (1,184 words) [view diff] exact match in snippet view article find links to article

2023. "Sertoli cell-only syndrome — National Organization for Rare Disorders". National Organization for Rare Disorders. June 16, 2022. Retrieved October

Eosinophilic cellulitis (455 words) [view diff] exact match in snippet view article find links to article

Eosinophilic Cellulitis - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). 2009. Retrieved 10 April 2017

Acrodysostosis (586 words) [view diff] exact match in snippet view article find links to article

1056/NEJMoa1012717. PMID 21651393. "Acrodysostosis". rarediseases.org. National Organization for Rare Disorders (NORD). "Mouse Genome Informatics site". MGI. The Jackson

Poland syndrome (2,232 words) [view diff] exact match in snippet view article find links to article

2014. "Poland Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2018-03-18. "Poland

Citrullinemia type I (498 words) [view diff] exact match in snippet view article find links to article

"Citrullinemia Type 1 – NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2015-11-03. Quinonez

Blue rubber bleb nevus syndrome (1,059 words) [view diff] exact match in snippet view article find links to article

Rubber Bleb Nevus syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2018-10-08. "Blue

Douglas Reye (469 words) [view diff] exact match in snippet view article find links to article

PMID 11303796. "Nemaline Myopathy - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 10 April 2016. Brooke

TORCH syndrome (282 words) [view diff] exact match in snippet view article find links to article

countries. "TORCH Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2016-04-21. Mehrjardi

Carrion's disease (1,202 words) [view diff] exact match in snippet view article find links to article

2016-10-17. "Bartonellosis - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2016-10-17. Maguina

Central pain syndrome (740 words) [view diff] exact match in snippet view article find links to article

"Central Pain Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Archived from the original on

Autosomal dominant porencephaly type I (413 words) [view diff] exact match in snippet view article find links to article

Dominant Porencephaly Type I - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2015-10-26.

Haim–Munk syndrome (1,104 words) [view diff] exact match in snippet view article find links to article

"Haim-Munk Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2018-04-17. Pahwa

Papillon–Lefèvre syndrome (967 words) [view diff] exact match in snippet view article find links to article

"Papillon Lefèvre Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2018-04-17. Ahuja

Sertoli cell-only syndrome (822 words) [view diff] exact match in snippet view article find links to article

PMID 33428073. "Sertoli cell-only syndrome — National Organization for Rare Disorders". National Organization for Rare Disorders. June 16, 2022. Retrieved October

Nemaline myopathy (3,563 words) [view diff] exact match in snippet view article find links to article

myopathy "Nemaline Myopathy - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2016-04-25. Chahin

Blepharophimosis, ptosis, epicanthus inversus syndrome (301 words) [view diff] exact match in snippet view article find links to article

Epicanthus Inversus Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2015-10-30.

Vaginal anomalies (3,693 words) [view diff] exact match in snippet view article find links to article

2018-01-21. "WNT4 Deficiency - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2018-01-22. Slavotinek

Ablepharon macrostomia syndrome (1,446 words) [view diff] exact match in snippet view article find links to article

S2CID 25639844. "Ablepharon-Macrostomia Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2019-11-07. "TWIST2 - Twist-related protein

Aminolevulinic acid dehydratase deficiency porphyria (976 words) [view diff] exact match in snippet view article find links to article

PMID 513604. S2CID 11400691. "ALAD Porphyria". NORD (National Organization for Rare Disorders). Retrieved 2020-06-29. "ALA Dehydratase Deficiency Porphyria

Cohen syndrome (1,077 words) [view diff] exact match in snippet view article find links to article

PMID 11477603. "Cohen Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2018-11-09. Wang H

Cri du chat syndrome (1,144 words) [view diff] exact match in snippet view article find links to article

"Cri du Chat Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2015-12-10. Lejeune

I-cell disease (1,038 words) [view diff] exact match in snippet view article find links to article

2009-09-16. "I Cell Disease - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2017-11-02. "Inherited

STAR syndrome (419 words) [view diff] exact match in snippet view article find links to article

PMID 29088509. "STAR syndrome — National Organization for Rare Disorders". National Organization for Rare Disorders. June 16, 2022. Retrieved October

Nelson's syndrome (1,274 words) [view diff] exact match in snippet view article find links to article

2015-11-05. "Nelson Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2015-11-05. "Nelson

Degos disease (1,651 words) [view diff] exact match in snippet view article find links to article

S2CID 34148667. "Degos Disease - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2017-12-13. Snow,

Marshall Summar (1,311 words) [view diff] exact match in snippet view article find links to article

Chairman of the Board - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). 2016-06-15. Retrieved 2018-04-12

Central nervous system cyst (1,234 words) [view diff] exact match in snippet view article find links to article

2017-04-11. "Arachnoid Cysts - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2017-04-27.

AIDS dysmorphic syndrome (58 words) [view diff] exact match in snippet view article find links to article

pneumonitis, hepatosplenomegaly, and lymphadenopathy. "AIDS Dysmorphic Syndrome - NORD (National Organization for Rare Disorders)". Retrieved 2015-09-21.

Enzyme replacement therapy (1,366 words) [view diff] exact match in snippet view article find links to article

"Lysosomal Storage Disorders – NORD (National Organization For Rare Disorders)". NORD (National Organization for Rare Disorders). Apr. 2017, from https://rarediseases

Plexopathy (609 words) [view diff] exact match in snippet view article find links to article

on Erb's and Klumpke's Palsies". Retrieved 2021-02-01. "National Organization for Rare Disorders, page on Parsonage Turner Syndrome". rarediseases.org.

Joubert syndrome (1,541 words) [view diff] exact match in snippet view article find links to article

PMID 5816874. "Joubert Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2016-12-19. Parisi

Infantile apnea (810 words) [view diff] exact match in snippet view article find links to article

PMID 27721838. "Apnea, Infantile - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2016-10-29. "Infant

Banti's syndrome (172 words) [view diff] exact match in snippet view article find links to article

Dorland's Medical Dictionary "Banti's Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2019-04-19. 1937 article in The Journal of

Chromosome 15q trisomy (229 words) [view diff] exact match in snippet view article find links to article

partial deletion "Chromosome 15, Distal Trisomy 15q". NORD (National Organization for Rare Disorders). Retrieved 23 April 2019. "Chromosome 15q duplication

Vaginal atresia (2,185 words) [view diff] exact match in snippet view article find links to article

"Bardet-Biedl Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2017-12-13. "Bardet-Biedl

Guizar–Vasquez–Sanchez–Manzano syndrome (155 words) [view diff] exact match in snippet view article find links to article

Vasquez Sanchez Manzano syndrome — National Organization for Rare Disorders". National Organization for Rare Disorders. June 16, 2022. Retrieved October

Facies (medical) (378 words) [view diff] exact match in snippet view article

original on 2008-07-20. "Craniometaphyseal Dysplasia - NORD (National Organization for Rare Disorders)". Taher, Ali T.; Musallam, Khaled M.; Cappellini, M. Domenica

Pachyonychia congenita (1,379 words) [view diff] exact match in snippet view article find links to article

"Pachyonychia Congenita - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2018-08-02. Freedberg

Pulmonary alveolar proteinosis (2,309 words) [view diff] exact match in snippet view article find links to article

PMID 28643018. “Pulmonary Alveolar Proteinosis.” NORD (National Organization for Rare Disorders), 16 Jan. 2020, rarediseases.org/rare-diseases/pulmona

KCNQ2 developmental and epileptic encephalopathy (539 words) [view diff] exact match in snippet view article find links to article

reduced seizure threshold. "KCNQ2 Encephalopathy". NORD (National Organization for Rare Disorders). Dirkx, Nina; Miceli, Francesco; Taglialatela, Maurizio;

Lymphedema–distichiasis syndrome (729 words) [view diff] exact match in snippet view article find links to article

retrieved 2020-04-15 "Lymphedema-Distichiasis Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2020-04-15. Reference, Genetics Home.

CD55 deficiency (659 words) [view diff] exact match in snippet view article find links to article

Hemoglobinuria (PNH) - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2018-01-07. Brodsky

Tyrosinemia type I (3,369 words) [view diff] exact match in snippet view article find links to article

PMID 30457777. "Physician's Guide to Tyrosinemia Type 1" (PDF). National Organization for Rare Disorders. Archived from the original (PDF) on 2014-02-11. "Tyrosine

American Academy of Child and Adolescent Psychiatry (333 words) [view diff] exact match in snippet view article find links to article

"American Academy of Child & Adolescent Psychiatry - National Organization for Rare Disorders". rarediseases.org. 11 August 2022. Retrieved 4 February

Orofaciodigital syndrome (240 words) [view diff] exact match in snippet view article find links to article

"Oral-facial-digital syndrome - Genetics Home Reference". "National Organization for Rare Disorders". Archived from the original on 2014-08-16. Retrieved 2015-03-02

Leucism (920 words) [view diff] exact match in snippet view article find links to article

accessed 18–22 July 2006). "Oculocutaneous Albinism". NORD (National Organization for Rare Disorders). Retrieved 2020-06-23. Rare white platypus in Gwydir River

Winchester syndrome (1,287 words) [view diff] exact match in snippet view article find links to article

"Winchester Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2017-11-07. "Torg

Kufor–Rakeb syndrome (1,354 words) [view diff] exact match in snippet view article find links to article

org. Retrieved 2021-04-26. "Kufor Rakeb Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2021-05-03. Spaull, RVV; Soo, AKS; Hogarth

Atransferrinemia (494 words) [view diff] exact match in snippet view article find links to article

omim.org. Retrieved 19 February 2017. "Atransferrinemia". National Organization for Rare Disorders. Retrieved 20 February 2017. Barton, James C.; Edwards

Congenital lactic acidosis (254 words) [view diff] exact match in snippet view article find links to article

anticonvulsants may be used to relieve seizures. "Congenital Lactic Acidosis". NORD (National Organization for Rare Disorders). Retrieved 2015-11-05.

Gordon syndrome (129 words) [view diff] exact match in snippet view article find links to article

have been reported worldwide. "Gordon Syndrome". NORD (National Organization for Rare Disorders). Retrieved 15 April 2019. "Gordon syndrome | Genetic and

Acid lipase disease (1,146 words) [view diff] exact match in snippet view article find links to article

Ester Storage Disease - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2017-11-08. Goldstein

Fox–Fordyce disease (722 words) [view diff] exact match in snippet view article find links to article

Online Journal. 18 (12). "Fox Fordyce Disease". NORD (National Organization for Rare Disorders). Sepaskhah, Mozhdeh; Hamedpour, Rahil; Sari Aslani, Fatemeh

Visual field (2,639 words) [view diff] exact match in snippet view article find links to article

uptodate.com. "Leber Hereditary Optic Neuropathy". NORD (National Organization for Rare Disorders). "Macular Hole - The American Society of Retina Specialists"

WNT4 deficiency (2,079 words) [view diff] exact match in snippet view article find links to article

process. "WNT4 Deficiency - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2018-01-22. Biason-Lauber

Serpiginous (347 words) [view diff] exact match in snippet view article find links to article

ISSN 0019-5154. PMC 3657228. PMID 23716818. "Choroiditis, Serpiginous". NORD (National Organization for Rare Disorders). Retrieved 9 January 2021. v t e

Monostotic fibrous dysplasia (403 words) [view diff] exact match in snippet view article find links to article

Frederick. "Fibrous Dysplasia". rarediseases.org. NORD (National Organization for Rare Disorders). Retrieved 29 November 2020. DiCaprio, Matthew R.; Enneking

WNT4 deficiency (2,079 words) [view diff] exact match in snippet view article find links to article

process. "WNT4 Deficiency - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2018-01-22. Biason-Lauber

Acanthocheilonemiasis (1,567 words) [view diff] exact match in snippet view article find links to article

"Acanthocheilonemiasis - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2016-04-13. Belhassen-García

Monilethrix (955 words) [view diff] exact match in snippet view article find links to article

NCBI. StatPearls. PMID 30969635. "Monilethrix". NORD (National Organization for Rare Disorders). Retrieved 2022-03-17. "Monilethrix: MedlinePlus Genetics"

Osteopetrosis (2,670 words) [view diff] exact match in snippet view article find links to article

2017-12-13. "Osteopetrosis - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2017-12-13. "Osteopetrosis:

Lateral rectus muscle (751 words) [view diff] exact match in snippet view article find links to article

160–171. PMC 3740468. PMID 23943691. "Duane syndrome". NORD (National Organization for Rare Disorders). Retrieved 2019-09-04. Anatomy figure: 29:01-05 at Human

Diabetes insipidus (2,798 words) [view diff] exact match in snippet view article find links to article

Retrieved 28 May 2017. "Central Diabetes Insipidus". NORD (National Organization for Rare Disorders). 2015. Archived from the original on 21 February 2017

Moro reflex (921 words) [view diff] exact match in snippet view article find links to article

book}}: |journal= ignored (help) "Kernicterus". NORD (National Organization for Rare Disorders). Retrieved 2019-08-06. Multiple authors. "Moro Reflex

Fatal insomnia (2,892 words) [view diff] exact match in snippet view article find links to article

disease in living people. "Fatal Familial Insomnia". NORD (National Organization for Rare Disorders). Retrieved 21 September 2022. "Fatal Insomnia – Neurologic

Hypoaldosteronism (629 words) [view diff] exact match in snippet view article find links to article

Retrieved 15 July 2011. "Hypoaldosteronism". NORD (National Organization for Rare Disorders). 16 June 2022. Retrieved 2022-11-12. "Hypoaldosteronism"

Reticular dysgenesis (946 words) [view diff] exact match in snippet view article find links to article

Combined Immunodeficiency - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2016-11-20. Calhoun

Genodermatosis (2,533 words) [view diff] exact match in snippet view article find links to article

childrens.health.qld.gov.au/fact-sheet-epidermolysis-bullosa/ National Organization for Rare Disorders (NORD). (2019).Epidermolysis Bullosa. Retrieved from https://rarediseases

Sugarman syndrome (89 words) [view diff] exact match in snippet view article find links to article

phalangeal shortening. "Oral-Facial-Digital Syndrome". National Organization for Rare Disorders. 2006. Retrieved 2007-04-02. Office of Rare Diseases (July

Jackson–Weiss syndrome (621 words) [view diff] exact match in snippet view article find links to article

PMID 1271196.subscription required "Jackson-Weiss Syndrome". National Organization for Rare Disorders. Retrieved 22 February 2023. Chen L, Deng CX (2005). "Roles

Schimke syndrome (182 words) [view diff] exact match in snippet view article find links to article

2021-09-09. "Schimke Immuno-Osseous Dysplasia". NORD (National Organization for Rare Disorders). Retrieved 2021-09-09. "Schimke immuno-osseous dysplasia:

Acute myelomonocytic leukemia (1,147 words) [view diff] exact match in snippet view article find links to article

Retrieved 2019-11-06. "Acute Myeloid Leukemia". NORD (National Organization for Rare Disorders). Retrieved 2019-12-14. "Acute myelomonocytic leukemia

Tolosa–Hunt syndrome (567 words) [view diff] exact match in snippet view article find links to article

eMedicine. Retrieved 2008-01-21. "Tolosa Hunt Syndrome". National Organization for Rare Disorders, Inc. Retrieved 2008-01-21. Foubert-Samier A, Sibon I,

Van Den Bosch syndrome (277 words) [view diff] exact match in snippet view article find links to article

Retrieved 2021-09-28. "Van Den Bosch syndrome". NORD (National Organization for Rare Disorders). Retrieved 2021-09-28. "Van Den Bosch syndrome". www.malacards

Harlequin-type ichthyosis (3,083 words) [view diff] exact match in snippet view article find links to article

"Ichthyosis, Harlequin Type – NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). 2006. Archived from the original

Arrhinia (775 words) [view diff] exact match in snippet view article find links to article

August 2023. "Bosma Arhinia Microphthalmia Syndrome". National Organization for Rare Disorders. 20 May 2024. Retrieved 22 July 2024. Zhang, Mao-mao; Hu

Spondyloepiphyseal dysplasia congenita (635 words) [view diff] exact match in snippet view article find links to article

2019. "Spondyloepiphyseal Dysplasia, Congenital". NORD (National Organization for Rare Disorders). Retrieved 20 March 2020. Spranger: Bone Dysplasias, Urban

Pectoralis minor syndrome (639 words) [view diff] exact match in snippet view article find links to article

1945. Sencen, Lisa. "Thoracic Outlet Syndrome". NORD (National Organization for Rare Disorders). Retrieved 25 August 2022. Howard, Matthew; Jones, Michael;

Nitisinone (893 words) [view diff] exact match in snippet view article find links to article

Tanguay RM. "Physician's Guide to Tyrosinemia Type 1" (PDF). National Organization for Rare Disorders. Archived from the original (PDF) on 2014-02-11. Portal:

Glucose cycle (366 words) [view diff] exact match in snippet view article find links to article

lead to von Gierke's disease. Sencen, Lisa. "Glycogen Storage Disease Type I". NORD (National Organization for Rare Disorders). Retrieved 2022-07-20.

Parry–Romberg syndrome (2,262 words) [view diff] exact match in snippet view article find links to article

was affected, casting doubt on this theory. Further, the National Organization for Rare Disorders has stated there is currently no evidence that Parry–Romberg

Benign lymphoepithelial lesion (546 words) [view diff] exact match in snippet view article find links to article

0.CO;2-N. PMID 5939056. Mikulicz syndrome on The National Organization for Rare Disorders (NORD) Benign lymphoepithelial lesions on Radiopedia

Pure red cell aplasia (570 words) [view diff] exact match in snippet view article find links to article

1111/j.1365-2141.2008.07216.x. PMC 2592349. PMID 18510682. National Organization for Rare Disorders. (2003). Nord Guide to Rare Disorders. Lippincott Williams

Sarcoma Foundation of America (84 words) [view diff] exact match in snippet view article find links to article

Retrieved July 2, 2022. "Sarcoma Foundation of America". NORD (National Organization for Rare Disorders). Retrieved July 2, 2022. "Charity Navigator – IRS Data

Opsoclonus myoclonus syndrome (2,281 words) [view diff] exact match in snippet view article find links to article

plasmapheresis for severe, steroid-unresponsive relapses. The National Organization for Rare Disorders (NORD) recommends FLAIR therapy consisting of a three-agent

American Society of Hypertension (303 words) [view diff] exact match in snippet view article find links to article

with the AHA. "American Society of Hypertension". NORD (National Organization for Rare Disorders). Retrieved 2018-09-25. ALDERMAN, M; BANES, J; BLUMENFELD

American Epilepsy Society (265 words) [view diff] exact match in snippet view article find links to article

Retrieved 12 October 2020. "American Epilepsy Society". NORD (National Organization for Rare Disorders). Retrieved 2020-10-13. "American Epilepsy Society 2005-2006

Mowat–Wilson syndrome (760 words) [view diff] exact match in snippet view article find links to article

Foundation. Retrieved 12 May 2020. "Mowat-Wilson Syndrome". National Organization for Rare Disorders. Retrieved 14 February 2023. Cordelli, DM; Garavelli, L;

Cronkhite–Canada syndrome (553 words) [view diff] exact match in snippet view article find links to article

PMID 12868681. "Cronkhite-Canada Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2019-05-19. Ward EM, Wolfsen HC (2003). "Pharmacological

Little People of America (502 words) [view diff] exact match in snippet view article find links to article

[permanent dead link‍] "Little People of America, Inc". NORD (National Organization for Rare Disorders). Retrieved May 14, 2021. "LITTLE PEOPLE MATTER". LITTLE

Pyruvate carboxylase deficiency (756 words) [view diff] exact match in snippet view article find links to article

November 2020. "Pyruvate Carboxylase Deficiency". NORD (National Organization for Rare Disorders). Retrieved 2021-05-26. Mochel, Fanny; DeLonlay, Pascale;

Lynch Syndrome International (120 words) [view diff] exact match in snippet view article find links to article

Vacaville, California. "NORD: Lynch Syndrome International". Retrieved 31 March 2018. Official website National Organization for Rare Disorders (NORD)

Roberts syndrome (2,164 words) [view diff] exact match in snippet view article find links to article

2010 Francke, Uta, and Jinglan Liu. "Roberts syndrome." National Organization for Rare Disorders. Published 26 November 2008. Gordillo et al. "Roberts syndrome

SYNGAP1-related intellectual disability (1,893 words) [view diff] exact match in snippet view article find links to article

edu. Retrieved 2021-07-04. "SYNGAP1-related NSID". NORD (National Organization for Rare Disorders). Retrieved 2022-12-30. von Stülpnagel C, Hartlieb T, Borggräfe

Gilbert's syndrome (3,685 words) [view diff] exact match in snippet view article find links to article

2017. Retrieved 2 July 2017. "Gilbert Syndrome". NORD (National Organization for Rare Disorders). 2015. Archived from the original on 20 February 2017

Gilbert's syndrome (3,685 words) [view diff] exact match in snippet view article find links to article

2017. Retrieved 2 July 2017. "Gilbert Syndrome". NORD (National Organization for Rare Disorders). 2015. Archived from the original on 20 February 2017

Degenerative disease (1,642 words) [view diff] exact match in snippet view article find links to article

PMID 19772952. S2CID 205666350. "MELAS Syndrome". NORD (National Organization for Rare Disorders). Archived from the original on 2017-02-20. Retrieved 2018-09-17

Ring chromosome 22 (1,375 words) [view diff] exact match in snippet view article find links to article

S2CID 21211829. Kulkarni S (2009). "Chromosome 22 Ring". National Organization for Rare Disorders. Retrieved 16 March 2021. Ishmael HA, Cataldi D, Begleiter

Hanhart syndrome (1,487 words) [view diff] exact match in snippet view article find links to article

who has no legs and only one arm. "Hanhart Syndrome - National Organization for Rare Disorders". rarediseases.org. Archived from the original on 2021-09-30

ZC4H2-Associated Rare Disorders (890 words) [view diff] exact match in snippet view article find links to article

presentations found among the affected population. Therefore the National Organization for Rare Disorders (NORD) refers to by its cause, as ZC4H2-Associated Rare

American Association of Tissue Banks (305 words) [view diff] exact match in snippet view article find links to article

Bank Specialist "American Association of Tissue Banks - National Organization for Rare Disorders". rarediseases.org. 2022-08-11. Retrieved 2024-09-15. "AATB:

Progressive supranuclear palsy (4,467 words) [view diff] exact match in snippet view article find links to article

PSNP1 - 601104 "Progressive Supranuclear Palsy". NORD (National Organization for Rare Disorders). Retrieved 2022-03-18. Josephs KA, Ishizawa T, Tsuboi

Cardiofaciocutaneous syndrome (525 words) [view diff] exact match in snippet view article find links to article

"Rare Disease Database: Cardiofaciocutaneous Syndrome". National Organization for Rare Disorders. Retrieved 27 July 2021. Bentires-Alj M, Kontaridis MI

Branchio-oto-renal syndrome (1,189 words) [view diff] exact match in snippet view article find links to article

Branchio-oculo-facial syndrome "Branchio Oto Renal Syndrome". NORD (National Organization for Rare Disorders). Archived from the original on 2020-09-26. Retrieved 2015-11-29

Ada Hamosh (913 words) [view diff] exact match in snippet view article find links to article

Society for Human Genetics (ASHG) Education Award, 2024. National Organization for Rare Disorders (NORD) Rare Impact Award, 2023. David L. Rimoin Lifetime

Pfeiffer syndrome (1,432 words) [view diff] exact match in snippet view article find links to article

PMC 1482682. PMID 16740155. "Pfeiffer Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2019-09-03. Pfeiffer RA (1964). "Dominant erbliche

Weissenbacher–Zweymüller syndrome (681 words) [view diff] exact match in snippet view article find links to article

OSMED, Heterozygous. (2006). Retrieved from National Organization for Rare Disorders: http://rarediseases.org/rare-diseases/osmed-heterozygous

Wilson–Turner syndrome (2,206 words) [view diff] exact match in snippet view article find links to article

"Börjeson-Forssman-Lehman Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2015-11-01. "What

Oto-palato-digital syndrome (511 words) [view diff] exact match in snippet view article find links to article

Robertson S (2020). "Otopalatodigital Syndrome Type I and II". National Organization for Rare Disorders. Retrieved 3 May 2021. Robertson SP (23 August 2006). "Otopalatodigital

Trismus pseudocamptodactyly syndrome (103 words) [view diff] exact match in snippet view article find links to article

nih.gov. "Trismus Pseudocamptodactyly Syndrome - NORD (National Organization for Rare Disorders)". "OMIM Entry # 158300 - ARTHROGRYPOSIS, DISTAL, TYPE

Dubin–Johnson syndrome (855 words) [view diff] exact match in snippet view article find links to article

Rabinowitz, Simon S. (2020). "Dubin Johnson Syndrome". NORD (National Organization for Rare Disorders). Archived from the original on 2016-04-25. Retrieved 2021-09-30

Microcephaly lymphoedema chorioretinal dysplasia (407 words) [view diff] exact match in snippet view article find links to article

Lymphedema, microcephaly and chorioretinopathy syndrome - National Organization for Rare Disorders". rarediseases.org. 16 June 2022. Retrieved 28 June 2023

Human T-lymphotropic virus 2 (1,206 words) [view diff] exact match in snippet view article find links to article

Retrieved 22 February 2019. "HTLV Type I and Type II". NORD (National Organization for Rare Disorders). Retrieved 2019-02-22. "Human T-cell leukemia virus type

Faciocardiorenal syndrome (247 words) [view diff] exact match in snippet view article find links to article

autosomal recessive. "Faciocardiorenal syndrome". NORD (National Organization for Rare Disorders). June 16, 2022. Retrieved October 28, 2022. "Orphanet:

Jones syndrome (178 words) [view diff] exact match in snippet view article find links to article

2021-09-11. Retrieved 2021-09-11. "Jones syndrome". NORD (National Organization for Rare Disorders). Retrieved 2021-09-11. Bissonnette, Bruno; Luginbuehl

Parsonage–Turner syndrome (744 words) [view diff] exact match in snippet view article find links to article

doi:10.1002/14651858.cd006976. "Parsonage Turner Syndrome". National Organization for Rare Disorders. "Parsonage Turner syndrome". Genetic and Rare Diseases

GATAD2B-associated neurodevelopmental disorder (322 words) [view diff] exact match in snippet view article find links to article

"GATAD2B-associated neurodevelopmental disorder". NORD (National Organization for Rare Disorders). Retrieved 2022-06-04. Shieh, Christine; Jones, Natasha;

Norrie disease (3,740 words) [view diff] exact match in snippet view article find links to article

Disease". National Organization for Rare Disorders. Retrieved 29 February 2024. "Norrie Disease". National Organization for Rare Disorders. Retrieved

GRIN2B-related neurodevelopmental disorder (322 words) [view diff] exact match in snippet view article find links to article

Retrieved 2022-07-01. "GRIN2B related syndrome". NORD (National Organization for Rare Disorders). Archived from the original on 2022-05-13. Retrieved 2022-07-01

Björnstad syndrome (977 words) [view diff] exact match in snippet view article find links to article

Dermatology. 10 (2). ISSN 1167-1122. "Björnstad Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2021-04-27. "Bjornstad syndrome". NCATS. Genetic

Microcephaly (4,286 words) [view diff] exact match in snippet view article find links to article

PMID 26796813. "Congenital Disorders of Glycosylation". NORD (National Organization for Rare Disorders). Retrieved 2019-08-01. "Mito Info". Mito Foundation. Retrieved

United Spinal Association (551 words) [view diff] exact match in snippet view article find links to article

preparedness/disaster relief "United Spinal Association - National Organization for Rare Disorders". rarediseases.org. 2022-08-11. Retrieved 2024-07-10. "Adaptive

Cleidocranial dysostosis (1,676 words) [view diff] exact match in snippet view article find links to article

October 2017. "Cleidocranial Dysplasia". rarediseases.org. National Organization for Rare Disorders, Inc. 2004. Archived from the original on 3 October 2016

Glycogen storage disease (6,188 words) [view diff] exact match in snippet view article find links to article

Storage Disease Type I - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 23 March 2017. Løkken

Pneumoconiosis (1,628 words) [view diff] exact match in snippet view article find links to article

Pneumoconiosis. StatPearls. "Silicosiderosis". NORD (National Organization for Rare Disorders). Retrieved 2022-04-01. "Silicosiderosis | Genetic and

Zollinger–Ellison syndrome (1,320 words) [view diff] exact match in snippet view article find links to article

Retrieved 2018-04-17. "Zollinger Ellison Syndrome - NORD (National Organization for Rare Disorders)". Rarediseases.org. Retrieved 14 January 2018. "Orphanet:

Carpenter syndrome (1,690 words) [view diff] exact match in snippet view article find links to article

The fusion of the skull bones is evident from birth (National Organization for Rare Disorders, Inc., 2008). Babies' mobile cranial bones form a cone

Börjeson–Forssman–Lehmann syndrome (716 words) [view diff] exact match in snippet view article find links to article

it is named. "Börjeson-Forssman-Lehman Syndrome - NORD (National Organization for Rare Disorders)". Retrieved 2015-07-25. "Börjeson-Forssman-Lehmann syndrome"

Tetrasomy 9p (1,074 words) [view diff] exact match in snippet view article find links to article

Retrieved November 29, 2015. "Chromosome 9, Tetrasomy 9p". National Organization for Rare Disorders. Retrieved 2015-11-29. Lazebnik, Noam; Cohen, Leslie (2015-07-01)

Alström syndrome (2,906 words) [view diff] exact match in snippet view article find links to article

PMC 4475486. PMID 25846608. "Alström Syndrome". NORD (National Organization for Rare Disorders). Archived from the original on 2021-03-18. Retrieved 2015-12-07

MURCS association (496 words) [view diff] exact match in snippet view article find links to article

ISSN 1750-1172. PMC 7439721. PMID 32819397. "MURCS Association". National Organization for Rare Disorders, Inc. Archived from the original on 2013-11-03. Duncan

Radio-renal syndrome (171 words) [view diff] exact match in snippet view article find links to article

year 1980 by Siegler et al. "Radio renal syndrome". NORD (National Organization for Rare Disorders). 16 June 2022. Retrieved 2022-10-19. "Radio renal syndrome

Hydranencephaly (1,076 words) [view diff] exact match in snippet view article find links to article

Prognosis". 29 September 2012. Retrieved 24 February 2018. National Organization for Rare Disorders. "Hydranencephaly". Rare Diseases Information.[permanent

Harry Raymond Eastlack (1,786 words) [view diff] exact match in snippet view article find links to article

Ossificans Progressiva - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2018-10-07. Heine

American Lung Association (1,011 words) [view diff] exact match in snippet view article find links to article

Retrieved March 9, 2015. "American Lung Association - National Organization for Rare Disorders". rarediseases.org. August 11, 2022. Retrieved October

TMEM8B (1,695 words) [view diff] exact match in snippet view article find links to article

Gene. "Erythromelalgia - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2 May 2018. Ma, J

Non-24-hour sleep–wake disorder (6,318 words) [view diff] exact match in snippet view article find links to article

than 1 affected person for every 2000 population. The US National Organization for Rare Disorders (NORD) lists non-24 as a rare disease by its definition

Hyperimmunoglobulin E syndrome (1,502 words) [view diff] exact match in snippet view article find links to article

PMID 5059313. S2CID 245107427. U.S. NIH Genetic Test Registry National Organization for Rare Disorders: Autosomal Dominant Hyper IgE Syndrome Autosomal Recessive

Menkes disease (1,556 words) [view diff] exact match in snippet view article find links to article

1074/jbc.M413840200. PMID 15634671. "Menkes Disease". NORD (National Organization for Rare Disorders). Retrieved 2022-10-10. Menkes Disease at eMedicine "Menkes

Frey's syndrome (931 words) [view diff] exact match in snippet view article find links to article

pub2. PMC 10799668. PMID 25781421. "Frey Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2019-01-26. synd/390 at Whonamedit? Frey L

Meckel–Gruber syndrome (1,014 words) [view diff] exact match in snippet view article find links to article

2006-07-21. Retrieved 2008-07-06. "Meckel Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2019-12-02. Kheir, Abdelmoneim E. M.; Imam

Apraxia (2,136 words) [view diff] exact match in snippet view article find links to article

Elsevier. p. 269. ISBN 978-0-323-07200-7. "Apraxia". NORD (National Organization for Rare Disorders). Retrieved 2019-08-02. "Apraxia Information Page | National

Branchio-oculo-facial syndrome (776 words) [view diff] exact match in snippet view article find links to article

1016/S0165-5876(00)00310-4. PMID 10906521. "Branchio Oculo Facial Syndrome". National Organization for Rare Disorders (NORD). Retrieved 25 March 2019.

Farber disease (1,401 words) [view diff] exact match in snippet view article find links to article

Diseases of Children. 84 (4): 499–500. PMID 12975849. National Organization for Rare Disorders (NORD): ASAH1-Related Disorders GeneReviews: ASAH1-Related

Celiac Sprue Association (127 words) [view diff] exact match in snippet view article find links to article

following a gluten-free diet. "Celiac Sprue Association – National Organization for Rare Disorders". rarediseases.org. August 11, 2022. Retrieved October

Nager acrofacial dysostosis (548 words) [view diff] exact match in snippet view article find links to article

UCSF Benioff Children's Hospitals. Retrieved 31 October 2021. "Nager Syndrome". National Organization for Rare Disorders. Retrieved 31 October 2021.

Immunization Action Coalition (442 words) [view diff] exact match in snippet view article find links to article

December 20, 2019. "For Patients and Families". NORD: National Organization for Rare Disorders. 2019. Retrieved December 20, 2019. "WHO | Immunization

4-Hydroxyphenylpyruvate dioxygenase (1,645 words) [view diff] exact match in snippet view article find links to article

doi:10.1007/s004390050696. PMID 9544843. S2CID 19425434. National Organization for Rare Disorders. Physician’s Guide to Tyrosinemia Type 1 Archived 2014-02-11

Pyknoachondrogenesis (221 words) [view diff] exact match in snippet view article find links to article

described in medical literature. "Pyknoachondrogenesis". National Organization for Rare Disorders. 16 June 2022. "Pyknoachondrogenesis – About the Disease

Hepatitis X (491 words) [view diff] exact match in snippet view article find links to article

Roberts, Sean (16 June 2022). "Non-A-E hepatitis". NORD (National Organization for Rare Disorders). Retrieved 2022-08-12. Parana, R.; Andrade, Z.; Freitas

Writer's cramp (1,275 words) [view diff] exact match in snippet view article find links to article

ISSN 2054-7072. PMC 5547537. PMID 28794890. "Dystonia". NORD (National Organization for Rare Disorders). Retrieved 2020-08-24. "Writer's Cramp - an overview |

Hypophosphatasia (4,499 words) [view diff] exact match in snippet view article find links to article

"Hypophosphatasia". Genetics Home Reference. "Hypophosphatasia". NORD (National Organization for Rare Disorders). Retrieved 2020-12-24. Orimo H (2016-05-17). "Pathophysiology

Conductive deafness-ptosis-skeletal anomalies syndrome (178 words) [view diff] exact match in snippet view article find links to article

"Deafness conductive ptosis skeletal anomalies". NORD (National Organization for Rare Disorders). Retrieved 2022-08-11. RESERVED, INSERM US14-- ALL RIGHTS

Donohue syndrome (1,684 words) [view diff] exact match in snippet view article find links to article

Reference. Retrieved 2019-11-19. "Leprechaunism". NORD (National Organization for Rare Disorders). Retrieved 2019-11-19. Online Mendelian Inheritance in

Wieacker syndrome (1,449 words) [view diff] exact match in snippet view article find links to article

(National Organization for Rare Disorders)". "OMIM Entry # 314580 - WIEACKER-WOLFF SYNDROME; WRWF". www.omim.org. "Wieacker Syndrome". NORD (National Organization

Graham–Boyle–Troxell syndrome (222 words) [view diff] exact match in snippet view article find links to article

pattern is not known. "Graham Boyle Troxell syndrome". NORD (National Organization for Rare Disorders). 16 June 2022. Retrieved 2022-09-11. RESERVED, INSERM

Juvenile hemochromatosis (1,259 words) [view diff] exact match in snippet view article find links to article

Retrieved 2022-03-31. "Juvenile Hemochromatosis". NORD (National Organization for Rare Disorders). Retrieved 2022-04-03. "Hemochromatosis type 2 | Genetic

National Association for Continence (374 words) [view diff] exact match in snippet view article find links to article

2011-10-29. "National Association for Continence". NORD (National Organization for Rare Disorders). Retrieved 29 December 2020. "National Association For

Alopecia areata (5,135 words) [view diff] exact match in snippet view article find links to article

JAK2. "Alopecia Areata - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). 2004. Archived from the original

Amyloidosis (5,448 words) [view diff] exact match in snippet view article find links to article

Business Wire. "Amyloidosis - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Archived from the original on

Gastroschisis (1,674 words) [view diff] exact match in snippet view article find links to article

July 2017. Retrieved 14 July 2017. "Gastroschisis". NORD (National Organization for Rare Disorders). 2007. Archived from the original on 21 February 2017

Infantile cerebellar retinal degeneration (459 words) [view diff] exact match in snippet view article find links to article

2022-05-04. "Infantile cerebellar retinal degeneration". NORD (National Organization for Rare Disorders). Retrieved 2022-05-04. "Rare Disease Series #17: Infantile

5α-Reductase 2 deficiency (4,320 words) [view diff] exact match in snippet view article find links to article

2017. Retrieved December 11, 2023. "National Organization for Rare Disorders". National Organization for Rare Disorders. Retrieved February 5, 2025. Mendonca

Cerebellar degeneration (2,137 words) [view diff] exact match in snippet view article find links to article

2018-10-09. "Cerebellar Degeneration, Subacute". NORD (National Organization for Rare Disorders). Retrieved 2018-10-09. "Cerebellar degeneration". Clinical

Palpable purpura (859 words) [view diff] exact match in snippet view article find links to article

Retrieved 12 December 2023. "Symptoms, Causes, Treatment". National Organization for Rare Disorders. February 11, 2015. Retrieved December 12, 2023. Javid

Pemphigus vulgaris (1,997 words) [view diff] exact match in snippet view article find links to article

Retrieved 30 December 2022. "Pemphigus and Pemphigoid". NORD (National Organization for Rare Disorders). Retrieved 2019-11-18. Daniel BS, Murrell DF (2014-05-06)

Primary hyperoxaluria (1,905 words) [view diff] exact match in snippet view article find links to article

Retrieved 2021-05-15. "Primary Hyperoxaluria". NORD (National Organization for Rare Disorders). Archived from the original on 2021-12-27. Retrieved 2021-05-15

Evans syndrome (1,851 words) [view diff] exact match in snippet view article find links to article

000,000 person-years. Hematology "Evans Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2022-03-15. "Evans syndrome". Genetic and Rare

Anodontia (2,008 words) [view diff] exact match in snippet view article find links to article

Adolescents. Thieme. ISBN 9780865777897. "Tooth Agenesis". NORD (National Organization for Rare Disorders). Retrieved 2020-12-16. Yap, Alan K. W.; Klineberg, Iven

Goodpasture syndrome (1,541 words) [view diff] exact match in snippet view article find links to article

Syndrome". 19 November 2019. "Goodpasture Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2020-11-29. Marques, C., et al. (2020). Review

Camera–Marugo–Cohen syndrome (435 words) [view diff] exact match in snippet view article find links to article

Retrieved 2022-05-30. "Camera Marugo Cohen syndrome". NORD (National Organization for Rare Disorders). Archived from the original on 2023-11-10. Retrieved 2022-05-30

Hypocalcemia (1,867 words) [view diff] exact match in snippet view article find links to article

Patient. Retrieved 2015-09-05. "Hypoparathyroidism". NORD (National Organization for Rare Disorders). Retrieved 2019-01-09. These cases may be called autoimmune

Autosomal dominant partial epilepsy with auditory features (582 words) [view diff] exact match in snippet view article find links to article

dominant partial epilepsy with auditory features". NORD (National Organization for Rare Disorders). Retrieved 2022-05-14. "Autosomal dominant partial epilepsy

Glycogen storage disease type IV (895 words) [view diff] exact match in snippet view article find links to article

(1): 11–20. PMID 13279125. "Andersen Disease (GSD IV)". National Organization for Rare Disorders. Retrieved 5 February 2023. "Glycogen Storage Disease Type

Adult polyglucosan body disease (993 words) [view diff] exact match in snippet view article find links to article

7 March 2017. "Adult Polyglucosan Body Disease". NORD (National Organization for Rare Disorders). 2015. Retrieved 7 March 2017. Mochel; et al. (September

Kienböck's disease (1,392 words) [view diff] exact match in snippet view article find links to article

doi:10.1142/S021881041100500X. PMID 21348025. NORD — National Organization for Rare Disorders, Inc Archived 2009-02-17 at the Wayback Machine http://www

Hereditary angioedema (4,319 words) [view diff] exact match in snippet view article find links to article

"Hereditary Angioedema - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). 2008. Archived from the original

Juvenile-onset dystonia (510 words) [view diff] exact match in snippet view article find links to article

ISSN 1565-1088. PMID 10979329. "Juvenile-onset dystonia". NORD (National Organization for Rare Disorders). Retrieved 2022-05-15. Kuukasjärvi, Anna; Landoni, Juan

ME Association (1,135 words) [view diff] exact match in snippet view article find links to article

leaflets about the coronavirus. "ME Association". The National Organization for Rare Disorders. Retrieved 2017-08-01. Kirke, Karen D (August 2017). "PACE

Émile Achard (310 words) [view diff] exact match in snippet view article find links to article

Newsl. 10 (21): 165–167. doi:10.1016/0196-4399(88)90024-4. National Organization for Rare Disorders, Inc. Achard Thiers Syndrome Achard's syndrome @ Who Named

Society for the Study of Reproduction (893 words) [view diff] exact match in snippet view article find links to article

Lisa. "Society for the Study of Reproduction". NORD (National Organization for Rare Disorders). Retrieved 22 July 2022. Clarke, Adele E. (25 March 2022)

Congenital hemolytic anemia (1,900 words) [view diff] exact match in snippet view article find links to article

"Glucose-6-Phosphate Dehydrogenase Deficiency". NORD (National Organization for Rare Disorders). 2017. Retrieved 20 November 2023. Monga A, Makkar RP

Progressive pseudorheumatoid dysplasia (450 words) [view diff] exact match in snippet view article find links to article

East. "Progressive pseudorheumatoid dysplasia". NORD (National Organization for Rare Disorders). 16 June 2022. Retrieved 2022-09-07. "Progressive pseudorheumatoid

Coffin–Lowry syndrome (2,079 words) [view diff] exact match in snippet view article find links to article

Coffin-Lowry Syndrome". "Coffin Lowry Syndrome - NORD (National Organization for Rare Disorders)". RareDiseases.org. Retrieved February 2, 2017. Coffin

Copenhagen disease (1,236 words) [view diff] exact match in snippet view article find links to article

PMID 3810179. S2CID 6534916. "Rare Disease Database". NORD (National Organization for Rare Disorders). Archived from the original on 2015-12-09. Retrieved 2020-08-04

Rubinstein–Taybi syndrome (2,240 words) [view diff] exact match in snippet view article find links to article

ISSN 0964-6906. PMID 9949198. "Rubinstein Taybi Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2020-05-06. Wikimedia Commons has media related

Brugada syndrome (5,883 words) [view diff] exact match in snippet view article find links to article

2017.06.019. PMID 28645806. "Brugada Syndrome". NORD (National Organization for Rare Disorders). 2016. Archived from the original on 11 February 2017

Coloboma of macula-brachydactyly type B syndrome (153 words) [view diff] exact match in snippet view article find links to article

"Coloboma of macula with type B brachydactyly". NORD (National Organization for Rare Disorders). 16 June 2022. Retrieved 2022-07-01. "Orphanet: Coloboma

Kniest dysplasia (1,294 words) [view diff] exact match in snippet view article find links to article

S2CID 21982098. Retrieved 18 January 2021. "Kniest Dysplasia". National Organization for Rare Disorders. Retrieved 20 November 2015. Hirsch, Larissa. "Kniest Dysplasia"

Birt–Hogg–Dubé syndrome (4,595 words) [view diff] exact match in snippet view article find links to article

Dubé 1977. Riegert-Johnson. Kniffin 2012. BHD Foundation. National Organization for Rare Disorders. Genetics Home Reference: Educational Resources. Liu et

Progeria (6,337 words) [view diff] exact match in snippet view article find links to article

"Hutchinson–Gilford Progeria – NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). 2014. Archived from the original

Pneumocystis pneumonia (2,689 words) [view diff] exact match in snippet view article find links to article

PMID 20047487. S2CID 13097433. "Pneumocystis Pneumonia". NORD (National Organization for Rare Disorders). Retrieved 2020-08-10. Allen CM, Al-Jahdali HH, Irion

Intellectual disability-spasticity-ectrodactyly syndrome (262 words) [view diff] exact match in snippet view article find links to article

"Intellectual disability-spasticity-ectrodactyly syndrome". NORD (National Organization for Rare Disorders). Retrieved 2022-07-12. RESERVED, INSERM US14-- ALL RIGHTS

Ichthyosis-intellectual disability-dwarfism-renal impairment (201 words) [view diff] exact match in snippet view article find links to article

"Ichthyosis-intellectual disability-dwarfism-renal impairment". National Organization for Rare Disorders. Archived from the original on 10 May 2022. Retrieved 16

ROHHAD (2,932 words) [view diff] exact match in snippet view article find links to article

Autonomic Dysregulation - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2018-06-03. Reppucci

Camptodactyly, tall stature, and hearing loss syndrome (373 words) [view diff] exact match in snippet view article find links to article

"Camptodactyly, tall stature, and hearing loss syndrome". NORD (National Organization for Rare Disorders). Retrieved 2022-05-15. "OMIM Entry - # 610474 - CAMPTODACTYLY

Hemolysis (2,689 words) [view diff] exact match in snippet view article find links to article

2020-08-19. "Atypical Hemolytic Uremic Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2020-08-19. Rhodes, Carl E.; Varacallo, Matthew

Epididymal secretory protein E1 (751 words) [view diff] exact match in snippet view article find links to article

gene & protein"". "Niemann Pick Disease Type C". NORD (National Organization for Rare Disorders). Retrieved 2022-04-28. Vanier MT, Millat G (October 2004)

Robinow syndrome (1,486 words) [view diff] exact match in snippet view article find links to article

423–6. doi:10.1038/78113. PMID 10932187. S2CID 36402844. National Organization for Rare Disorders, Inc. Robinow Syndrome. Last modified 15 May 2006. Accessed

Poly(A)-binding protein (1,980 words) [view diff] exact match in snippet view article

Library of Medicine. "Oculopharyngeal Muscular Dystrophy". National Organization for Rare Disorders. Shoubridge C (2000). "Polyalanine Tract Disorders and

Pityriasis rosea (2,472 words) [view diff] exact match in snippet view article find links to article

p. 183. ISBN 9789997638991. "Pityriasis Rosea". NORD (National Organization for Rare Disorders). 2015. Retrieved 10 November 2017. Eisman, S; Sinclair

Tumor of the stomach (1,135 words) [view diff] exact match in snippet view article find links to article

SEER Training". training.seer.cancer.gov. Retrieved 2022-04-02. "Stomach Cancer". NORD (National Organization for Rare Disorders). Retrieved 2022-04-02.

PMM2 deficiency (902 words) [view diff] exact match in snippet view article find links to article

Retrieved 1 December 2023. "PMM2-CDG". Rare Diseases. National Organization for Rare Disorders (NORD). 6 August 2015 [Originally published 1996]. Retrieved

Vogt–Koyanagi–Harada disease (1,496 words) [view diff] exact match in snippet view article find links to article

Vogt–Koyanagi–Harada disease. "Vogt-Koyanagi-Harada Disease". National Organization for Rare Disorders. 2014. Sakata VM, da Silva FT, Hirata CE, de Carvalho JF

Adult-onset immunodeficiency syndrome (516 words) [view diff] exact match in snippet view article find links to article

immunodeficiency with anti-interferon-gamma autoantibodies — National Organization for Rare Disorders". rarediseases.org. 16 June 2022. Retrieved 2023-09-29

Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome (305 words) [view diff] exact match in snippet view article find links to article

malformation with sagittal craniosynostosis and hydrocephalus - National Organization for Rare Disorders". rarediseases.org. 2022-06-16. Retrieved 2023-09-14. Basel-Vanagaite

Galactosemia (2,028 words) [view diff] exact match in snippet view article find links to article

"GARD Rare Disease Information - Duarte Galactosemia - National Organization for Rare Disorders". rarediseases.org. 2022-06-16. Retrieved 2023-07-26. "Breastfeeding:

Cat-scratch disease (2,454 words) [view diff] exact match in snippet view article find links to article

https://www.cdc.gov/bartonella/cat-scratch/index.html DermNet bacterial/catscratch Cat Scratch Disease on National Organization for Rare Disorders site

Phosphofructokinase deficiency (1,891 words) [view diff] exact match in snippet view article find links to article

"Glycogen Storage Disease Type VII". Rare Disease Database. National Organization for Rare Disorders. Swoboda, Kathryn; Specht, Linda; Jones, Royden; Shapiro

Catastrophic antiphospholipid syndrome (1,352 words) [view diff] exact match in snippet view article find links to article

PMID 23216595. S2CID 207211666. "Asherson's Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2020-12-04. Gracia-Tello, Borja; Isenberg,

Birk-Barel syndrome (701 words) [view diff] exact match in snippet view article find links to article

rarediseases.info.nih.gov. "KCNK9 Imprinting Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2021-04-26. Cooper, Alexis; Butto, Tamer; Hammer

Collins–Pope syndrome (245 words) [view diff] exact match in snippet view article find links to article

Roberts, Sean (16 June 2022). "Collins Pope syndrome". NORD (National Organization for Rare Disorders). Retrieved 2022-07-12. "Collins Pope syndrome - About

Erdheim–Chester disease (2,230 words) [view diff] exact match in snippet view article find links to article

Retrieved 2009-05-08. "Erdheim Chester disease". NORD (National Organization for Rare Disorders). Retrieved 2016-03-01. "What Do I Do Now? - Erdheim-Chester

Da Costa's syndrome (1,837 words) [view diff] exact match in snippet view article find links to article

Intolerance - 604715 "Neurasthenia". Rare Disease Database. National Organization for Rare Disorders, Inc. 2005. Retrieved 2008-05-28. Paul Wood, MD (1941-05-24)

Hypomyelination-congenital cataract syndrome (661 words) [view diff] exact match in snippet view article find links to article

Sean. "Hypomyelination and congenital cataract". NORD (National Organization for Rare Disorders). Retrieved 2022-07-13. Wolf, Nicole I.; Biancheri, Roberta;

Chronic multifocal Langerhans cell histiocytosis (1,588 words) [view diff] exact match in snippet view article find links to article

Letterer–Siwe disease "Langerhans Cell Histiocytosis". NORD (National Organization for Rare Disorders). Retrieved 5 December 2020. Stanway, Amy (2005). "Langerhans

Cardiocranial syndrome, Pfeiffer type (186 words) [view diff] exact match in snippet view article find links to article

Disease Information - Pfeiffer-type cardiocranial syndrome - National Organization for Rare Disorders". rarediseases.org. 2022-06-16. Retrieved 2023-10-10. "About:

Primary myelofibrosis (2,842 words) [view diff] exact match in snippet view article find links to article

ISBN 978-0-7216-2921-6. "Primary Myelofibrosis". NORD (National Organization for Rare Disorders). Retrieved 20 July 2020. Tefferi A, Lasho TL, Finke CM

Becker muscular dystrophy (2,550 words) [view diff] exact match in snippet view article find links to article

PMC 5874658. PMID 29301272. "Muscular Dystrophy, Becker". NORD (National Organization for Rare Disorders). Archived from the original on 2021-10-31. Retrieved 2021-04-17

SLC6A1 epileptic encephalopathy (912 words) [view diff] exact match in snippet view article find links to article

PMID 33241211. "SLC6A1 Epileptic Encephalopathy". NORD (National Organization for Rare Disorders). Goodspeed, Kimberly; Pérez-Palma, Eduardo; Iqbal, Sumaiya;

Dejerine–Roussy syndrome (2,276 words) [view diff] exact match in snippet view article find links to article

Retrieved 2011-11-21. "Thalamic Syndrome (Dejerine Roussy)". National Organization for Rare Disorders. 2003. Auer-Grumbach M, Strasser-Fuchs S, Wagner K, Korner

Monosomy 9p (1,069 words) [view diff] exact match in snippet view article find links to article

S2CID 32538366. "Chromosome 9, Partial Monosomy 9p". NORD (National Organization for Rare Disorders). Retrieved 2021-04-26. "Chromosome 9p deletion syndrome

Meleda disease (1,564 words) [view diff] exact match in snippet view article find links to article

PMID 26445964. S2CID 28912068. "Meleda Disease". NORD (National Organization for Rare Disorders). Retrieved 2019-11-06. "Diagnosis: Mal de Meleda | The

Meleda disease (1,564 words) [view diff] exact match in snippet view article find links to article

PMID 26445964. S2CID 28912068. "Meleda Disease". NORD (National Organization for Rare Disorders). Retrieved 2019-11-06. "Diagnosis: Mal de Meleda | The

Hereditary leiomyomatosis and renal cell cancer syndrome (2,010 words) [view diff] exact match in snippet view article find links to article

"Hereditary Leiomyomatosis and Renal Cell Carcinoma". NORD (National Organization for Rare Disorders). Retrieved 8 April 2019. Menko FH, Maher ER, Schmidt LS

Gitelman syndrome (2,939 words) [view diff] exact match in snippet view article find links to article

PMID 21947122. S2CID 13425677. "Gitelman Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2020-03-29. Mori T, Chiga M, Fujimaru T, Kawamoto

Blepharospasm (3,653 words) [view diff] exact match in snippet view article find links to article

Research Foundation ClinicalTrials.gov Internetmedicin (Swedish source for licensed doctors) National Eye Institute National Organization for Rare Disorders

Marathon Pharmaceuticals (1,007 words) [view diff] exact match in snippet view article find links to article

Drug Prices Prompts a Pioneer to Cash Out". WSJ. "NORD". National Organization for Rare Disorders. Retrieved 17 June 2014. "About Marathon". Marathon Pharmaceuticals

Noonan syndrome with multiple lentigines (1,965 words) [view diff] exact match in snippet view article find links to article

LEOPARD Syndrome at eMedicine "LEOPARD Syndrome". NORD — National Organization for Rare Disorders. Archived from the original on 2015-03-03. Retrieved 2014-09-01

Crigler–Najjar syndrome (1,181 words) [view diff] exact match in snippet view article find links to article

PMID 10603107. S2CID 24242888. Crigler Najjar Syndrome. National Organization for Rare Disorders (NORD). 2016; https://rarediseases

Lysosomal acid lipase deficiency (1,839 words) [view diff] exact match in snippet view article find links to article

2008.273. ISSN 1476-5365. PMID 18776925. S2CID 19347350. National Organization for Rare Disorders (NORD) Article - LYSOSOMAL ACID LIPASE/NIH.gov Article

Apert syndrome (2,521 words) [view diff] exact match in snippet view article find links to article

133. ISBN 978-1-84310-976-1. "Apert Syndrome". NORD (National Organization for Rare Disorders). Retrieved 21 September 2022. "Apert syndrome". GOSH Hospital

Osteomyelitis (3,475 words) [view diff] exact match in snippet view article find links to article

Garre's sclerosing osteomyelitis "Osteomyelitis". NORD (National Organization for Rare Disorders). 2005. Archived from the original on 11 February 2017

Abetalipoproteinemia (2,274 words) [view diff] exact match in snippet view article find links to article

Hussain MM (2023-02-17). Abetalipoproteinemia (Report). National Organization for Rare Disorders. Retrieved 2024-04-22. Cooper RA, Durocher JR, Leslie MH

Thiazide (2,442 words) [view diff] exact match in snippet view article find links to article

ISSN 1046-6673. PMID 12444212. "Dent Disease". NORD (National Organization for Rare Disorders). Retrieved 2019-07-22. Trump DL, Hochberg MC (April 1976)

Disorders of sex development (7,821 words) [view diff] exact match in snippet view article find links to article

"Ovotesticular Disorder of Sex Development". Rare Disease Database. National Organization for Rare Disorders (NORD). Retrieved 2021-08-01. Vaidyanathan, Priya; Kaplowitz

X-linked dystonia parkinsonism (781 words) [view diff] exact match in snippet view article find links to article

Pathology. 54 (6): 362–368. PMC 1187125. PMID 11724910. National Organization for Rare Disorders (2003). NORD Guide to Rare Disorders. Lippincott Williams

Carotid agenesis (452 words) [view diff] exact match in snippet view article find links to article

Rare Disease Information - Internal carotid agenesis - National Organization for Rare Disorders". rarediseases.org. 2022-06-16. Retrieved 2023-04-21. "Internal

Sudden arrhythmic death syndrome (2,326 words) [view diff] exact match in snippet view article find links to article

Death Study. Int J Cardiol. 2008 "Brugada Syndrome". NORD (National Organization for Rare Disorders). 2016. Retrieved 28 October 2017. "Brugada syndrome".

Growth hormone deficiency (3,064 words) [view diff] exact match in snippet view article find links to article

Retrieved 12 December 2017. "Growth Hormone Deficiency". NORD (National Organization for Rare Disorders). 2016. Retrieved 12 December 2017. "isolated growth hormone

Dermatomyositis (3,472 words) [view diff] exact match in snippet view article find links to article

2017. Retrieved 13 July 2017. "Dermatomyositis". NORD (National Organization for Rare Disorders). 2015. Archived from the original on 19 February 2017

Neuroleptic malignant syndrome (3,544 words) [view diff] exact match in snippet view article find links to article

PMID 23983836. "Neuroleptic Malignant Syndrome". NORD (National Organization for Rare Disorders). 2004. Archived from the original on 19 February 2017

Scleroderma (3,337 words) [view diff] exact match in snippet view article find links to article

the years leading up to her death) "Scleroderma". NORD (National Organization for Rare Disorders). 2007. Archived from the original on 8 September 2016

Rickets (4,817 words) [view diff] exact match in snippet view article find links to article

December 2017. "Rickets, Vitamin D Deficiency". NORD (National Organization for Rare Disorders). 2005. Retrieved 19 December 2017. Creo AL, Thacher TD

Dopamine-responsive dystonia (1,664 words) [view diff] exact match in snippet view article find links to article

handwriting at infants/kindergarten (ages 3–5 school) years (National Organization for Rare Disorders, 2015). poor handwriting at pre-teens (ages 8–11 school)

Freeman–Sheldon syndrome (2,346 words) [view diff] exact match in snippet view article find links to article

ISBN 0-7216-2921-0. "Freeman Sheldon Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2019-09-12. Krakowiak PA, O'Quinn JR, Bohnsack

Spondyloenchondrodysplasia (2,832 words) [view diff] exact match in snippet view article find links to article

"Spondyloenchondrodysplasia with immune dysregulation". NORD (National Organization for Rare Disorders). Retrieved 2022-10-23. "Orphanet: Spondyloenchondrodysplasia"

Acrocephalosyndactyly (2,746 words) [view diff] exact match in snippet view article find links to article

the original on 30 June 2012. "Pfeiffer Syndrome". NORD (National Organization for Rare Disorders). Retrieved 5 November 2022. Acrocephalosyndactylia at

American Society for Histocompatibility and Immunogenetics (298 words) [view diff] exact match in snippet view article find links to article

Society for Histocompatibility & Immunogenetics". NORD (National Organization for Rare Disorders). Retrieved 2020-04-09. "Acrobat Accessibility Report"

Gary R. Epler (854 words) [view diff] exact match in snippet view article find links to article

"Bronchiolitis Obliterans Organizing Pneumonia". NORD (National Organization for Rare Disorders). Retrieved 2019-07-31. Ferkol, Thomas (1995). "Diseases

XYY syndrome (9,969 words) [view diff] exact match in snippet view article find links to article

January 2009. Retrieved 2017-03-19. "XYY Syndrome". NORD (National Organization for Rare Disorders). 2012. Retrieved 11 November 2017. "XYY Syndrome". "47

Hypokalemia (3,644 words) [view diff] exact match in snippet view article find links to article

(Potassium) List of foods rich in potassium (U. Mass. Med.) Archived 2017-01-03 at the Wayback Machine National Organization for Rare Disorders: Hypokalemia

Common variable immunodeficiency (3,368 words) [view diff] exact match in snippet view article find links to article

S2CID 25106807. "Common Variable Immune Deficiency". NORD (National Organization for Rare Disorders). Retrieved November 18, 2021. Zainaldain H, Rizvi FS,

Twin-to-twin transfusion syndrome (2,650 words) [view diff] exact match in snippet view article find links to article

July 22, 2006. "Twin-Twin Transfusion Syndrome". NORD (National Organization for Rare Disorders). Retrieved October 4, 2021. Holmes, Lewis B. (2011). Common

Eosinophilic granulomatosis with polyangiitis (2,811 words) [view diff] exact match in snippet view article find links to article

was diagnosed with EGPA. "Churg Strauss Syndrome". NORD (National Organization for Rare Disorders). 11 February 2015. Retrieved 8 March 2020. Masi AT, Hunder

Growth chart (1,584 words) [view diff] exact match in snippet view article find links to article

Retrieved 2021-09-13. "Prader-Willi Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2021-09-13. "Noonan syndrome - Symptoms and

Lymphohemangioma (1,265 words) [view diff] exact match in snippet view article find links to article

Retrieved 2020-11-12. "Lymphatic Malformations". NORD (National Organization for Rare Disorders). Retrieved 2020-11-12. Mao, Cui Ping; Jin, Yao Feng; Yang

Ehlers–Danlos syndrome (11,855 words) [view diff] exact match in snippet view article find links to article

Retrieved 4 April 2018. "Ehlers Danlos Syndromes". NORD (National Organization for Rare Disorders). Retrieved 2022-04-19. "Ehlers–Danlos Syndrome". Mayo

Inclusion bodies (2,525 words) [view diff] exact match in snippet view article find links to article

Stress granules "Sporadic Inclusion Body Myositis". NORD (National Organization for Rare Disorders). Retrieved 12 March 2021. Chung CG, Lee H, Lee SB (1 September

Primary familial brain calcification (2,487 words) [view diff] exact match in snippet view article find links to article

PMID 9065541. S2CID 1061208. Fahr Syndrome Images (MedPix) National Organization for Rare Disorders (NORD) National Institute on Aging (NIA) National Institute

Hemochromatosis type 4 (1,716 words) [view diff] exact match in snippet view article find links to article

cca.2012.11.013. PMID 23178444. "Ferroportin Disease". National Organization for Rare Disorders. Retrieved 9 November 2016. Santos, P.C.J.L.; Dinardo,

Addison's disease (4,455 words) [view diff] exact match in snippet view article find links to article

2022-08-10. Retrieved 2021-03-03. "Addison's Disease". NORD (National Organization for Rare Disorders). Archived from the original on 2022-06-15. Retrieved 2020-12-01

Tardive dyskinesia (3,908 words) [view diff] exact match in snippet view article find links to article

2017. Retrieved 10 June 2017. "Tardive Dyskinesia". NORD (National Organization for Rare Disorders). 2015. Archived from the original on 28 August 2017. Retrieved

Trichotillomania (4,423 words) [view diff] exact match in snippet view article find links to article

Retrieved 2013-02-22. Chamberlain, Samuel. "Trichotillomania". National Organization for Rare Disorders. Archived from the original on 3 June 2019. Retrieved 12

Epidermolysis bullosa (3,686 words) [view diff] exact match in snippet view article find links to article

PMID 8204470. S2CID 5958915. "Epidermolysis Bullosa". NORD (National Organization for Rare Disorders). Archived from the original on 8 March 2022. Retrieved

Basal ganglia disease (3,645 words) [view diff] exact match in snippet view article find links to article

PMID 17179586. "Benign Essential Blepharospasm". NORD (National Organization for Rare Disorders). Retrieved 2020-01-29. Baron MS, Vitek JL, Bakay RA, et al

Idiopathic intracranial hypertension (4,113 words) [view diff] exact match in snippet view article find links to article

November 2017. "Idiopathic Intracranial Hypertension". NORD (National Organization for Rare Disorders). 2015. Retrieved 8 November 2017. Wakerley, BR; Tan, MH;

Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome (966 words) [view diff] exact match in snippet view article find links to article

"Holoprosencephaly ectrodactyly cleft lip palate - NORD (National Organization for Rare Disorders)". Archived from the original on 2022-05-13. Retrieved

Goldmann–Favre syndrome (1,273 words) [view diff] exact match in snippet view article find links to article

Sean (16 June 2022). "Goldmann-Favre syndrome". NORD (National Organization for Rare Disorders). Retrieved 2022-07-27. Haider, N. B.; Jacobson, S. G.;

Teratoma (5,006 words) [view diff] exact match in snippet view article find links to article

ISBN 9781905635368. "Sacrococcygeal Teratoma". NORD (National Organization for Rare Disorders). 2007. Retrieved 20 December 2017. Millet I, Perrochia

Familial dysautonomia (2,450 words) [view diff] exact match in snippet view article find links to article

at the Wayback Machine "Dysautonomia, Familial". NORD (National Organization for Rare Disorders). Retrieved 2020-05-31. "Orphanet: Familial dysautonomia"

SLC13A5 citrate transporter disorder (861 words) [view diff] exact match in snippet view article find links to article

PMID 36140822. "SLC13A5 Citrate Transporter Disorder". NORD (National Organization for Rare Disorders). Whitney, Robyn; Choi, Elaine; Jones, Kevin C. (March

CARASIL (1,523 words) [view diff] exact match in snippet view article find links to article

with Strokes And Leukoencephalopathy) "CARASIL". NORD (National Organization for Rare Disorders). Retrieved 2019-11-05. "CEREBRAL ARTERIOPATHY, AUTOSOMAL

Niemann–Pick disease (3,179 words) [view diff] exact match in snippet view article find links to article

Deficiency at eMedicine "Niemann Pick Disease Type C". National Organization for Rare Disorders. "NIEMANN-PICK DISEASE, TYPE B". OMIM. 9 April 2019. 607616

Cavernous hemangioma (3,675 words) [view diff] exact match in snippet view article find links to article

PMID 38477989. "Cavernous Malformation". Rare Disease Database. National Organization for Rare Disorders, Inc. Mindea SA, Yang BP, Shenkar R, Bendok B, Batjer HH

Marfan syndrome (6,888 words) [view diff] exact match in snippet view article find links to article

3390/diagnostics13132284. PMC 10340634. PMID 37443678. "Marfan Syndrome". National Organization for Rare Disorders. 2017. Archived from the original on 12 November 2019.

Ewing sarcoma (4,387 words) [view diff] exact match in snippet view article find links to article

2019. Retrieved 3 February 2019. "Ewing Sarcoma". NORD (National Organization for Rare Disorders). 2013. Retrieved 4 February 2019. "Ewing Sarcoma Treatment"

Infantile spasms-broad thumbs syndrome (297 words) [view diff] exact match in snippet view article find links to article

recessive syndrome. "Infantile spasms broad thumbs". NORD (National Organization for Rare Disorders). Retrieved 2022-05-31. "OpenCodelists". www.opencodelists

Rubella (4,706 words) [view diff] exact match in snippet view article find links to article

reprotox.2005.01.014. PMID 16580940. "TORCH Syndrome". NORD (National Organization for Rare Disorders). Archived from the original on 2017-06-27. Retrieved 2022-05-18

Status epilepticus (3,647 words) [view diff] exact match in snippet view article find links to article

FIRES (Febrile Infection-Related Epilepsy Syndrome)". National Organization for Rare Disorders. Retrieved 2021-12-07. "New-Onset Refractory Status Epilepticus

Panuveitis (458 words) [view diff] exact match in snippet view article find links to article

PMC 7053792. PMID 32181063. "Panuveitis". rarediseases.org. National Organization for Rare Disorders. 2022-06-16. Archived from the original on 2023-02-05.

I-cell (1,467 words) [view diff] exact match in snippet view article find links to article

Mucopolysaccharidoses - symptoms, causes, treatment: Nord. National Organization for Rare Disorders. https://rarediseases.org/rare-diseases/mucopolysaccharidoses/

Paroxysmal nocturnal hemoglobinuria (4,304 words) [view diff] exact match in snippet view article find links to article

PMID 25356860. "Paroxysmal Nocturnal Hemoglobinuria - NORD (National Organization for Rare Disorders)". NORD. 2016. Retrieved 3 July 2017. Rother RP, Bell L

Catamenial pneumothorax (1,659 words) [view diff] exact match in snippet view article find links to article

epilepsy Catamenial migraine "Catamenial Pneumothorax". NORD (National Organization for Rare Disorders). Retrieved 2021-12-02. Visouli AN, Darwiche K, Mpakas

Inclusion body myositis (3,631 words) [view diff] exact match in snippet view article find links to article

PMID 26760521. "Sporadic Inclusion Body Myositis". NORD (National Organization for Rare Disorders). "muscle biopsy revealed: Topics by Science.gov". www

Langerhans cell histiocytosis (4,022 words) [view diff] exact match in snippet view article find links to article

Paul Langerhans. "Langerhans Cell Histiocytosis". NORD (National Organization for Rare Disorders). Retrieved 5 December 2020. "UpToDate". UpToDate. Retrieved

Trigeminal neuralgia (4,460 words) [view diff] exact match in snippet view article find links to article

PMC 3002644. PMID 21179603. "Trigeminal Neuralgia". National Organization for Rare Disorders, Inc. 26 February 2014. Cruccu G, Di Stefano G, Truini

Uveal melanoma (3,519 words) [view diff] exact match in snippet view article find links to article

pp. 137–138. ISBN 978-92-832-2440-2. Ocular Melanoma, National Organization for Rare Disorders, 2018 Harbour, J. William; Correa, Zelia M. (2021). "1

Skeletal Dysplasias Alliance (556 words) [view diff] exact match in snippet view article find links to article

Declaration rpp-group.com "European Skeletal Dysplasia Network – National Organization for Rare Disorders". rarediseases.org. August 11, 2022. "Skeletal Dysplasias

Glucose-6-phosphate dehydrogenase deficiency (3,961 words) [view diff] exact match in snippet view article find links to article

"Glucose-6-Phosphate Dehydrogenase Deficiency". NORD (National Organization for Rare Disorders). 2017. Retrieved 11 December 2017. "Glucose-6-phosphate

Noonan syndrome (4,209 words) [view diff] exact match in snippet view article find links to article

Retrieved 24 December 2018. "Noonan Syndrome". NORD (National Organization for Rare Disorders). 2016. Retrieved 24 December 2018. "Noonan syndrome".

Pleiotropy (5,016 words) [view diff] exact match in snippet view article find links to article

22 May 2024. Retrieved 2024-08-05. "Marfan Syndrome". National Organization for Rare Disorders. 2017. Retrieved 5 November 2016. Garland, Theodore; Morgan

Rocky Mountain spotted fever (4,246 words) [view diff] exact match in snippet view article find links to article

Retrieved 2021-07-05. "Rocky Mountain Spotted Fever". NORD (National Organization for Rare Disorders). Retrieved 2021-07-05. Biggs, Holly M. (2016). "Diagnosis

Hirschsprung's disease (3,854 words) [view diff] exact match in snippet view article find links to article

Retrieved 14 December 2017. "Hirschsprung Disease". NORD (National Organization for Rare Disorders). 2017. Retrieved 14 December 2017. "Definition & Facts

Gaucher's disease (3,309 words) [view diff] exact match in snippet view article find links to article

2016-11-16. "Gaucher disease - Affected population". NORD - National Organization for Rare Disorders. Archived from the original on 25 September 2013. Retrieved

Mothers against decapentaplegic homolog 4 (3,335 words) [view diff] case mismatch in snippet view article find links to article

ISBN 0-7216-0187-1. "Growth-Mental Deficiency Syndrome of Myhre". National Organization for rare disorders. Archived from the original on 2 April 2015. Retrieved

Cold agglutinin disease (3,442 words) [view diff] exact match in snippet view article find links to article

at eMedicine "Anemia, Hemolytic, Cold Antibody". NORD (National Organization for Rare Disorders). 2004-10-28. Archived from the original on 2017-02-21

Oculopharyngodistal myopathy (1,072 words) [view diff] exact match in snippet view article find links to article

Roberts, Sean. "Oculopharyngodistal myopathy". NORD (National Organization for Rare Disorders). Retrieved 2022-08-11. "KEGG DISEASE: Oculopharyngodistal

Avascular necrosis (2,615 words) [view diff] exact match in snippet view article find links to article

from the original on 4 March 2010. "Osteonecrosis". NORD (National Organization for Rare Disorders). 2009. Archived from the original on 19 February 2017

Semantic dementia (2,845 words) [view diff] exact match in snippet view article find links to article

Retrieved 2020-07-18. "Encephalitis, Herpes Simplex". NORD (National Organization for Rare Disorders). Retrieved 2020-07-19. Lambon Ralph, M. A.; Lowe, C.;

Small-cell carcinoma (4,950 words) [view diff] exact match in snippet view article find links to article

PMID 29494065. Retrieved 2023-10-02. "Small Cell Lung Cancer". National Organization for Rare Disorders. "Small cell carcinoma of the Lung and Bronchus". Surveillance

Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome (835 words) [view diff] exact match in snippet view article find links to article

syncopal episodes-perodactyly-Robin sequence syndrome". National Organization for Rare Disorders. 16 June 2022. "Ventricular extrasystoles with syncopal

Myelodysplastic syndrome (6,508 words) [view diff] exact match in snippet view article find links to article

Retrieved 27 October 2016. "Myelodysplastic Syndromes". NORD (National Organization for Rare Disorders). Retrieved 23 May 2019. "Myelodysplastic Syndromes Treatment

Q fever (4,847 words) [view diff] exact match in snippet view article find links to article

from the original on 2020-05-29. Retrieved 2020-05-27. National Organization for Rare Disorders (2003). "Q Fever". NORD Guide to Rare Disorders. Lippincott

LMNA-related congenital muscular dystrophy (586 words) [view diff] exact match in snippet view article find links to article

PMC 3180193. PMID 21701264 Sparks SE. "Congenital Muscular Dystrophy". NORD. National Organization for Rare Disorders. Retrieved September 19, 2018. LMNA

Septic arthritis (4,551 words) [view diff] exact match in snippet view article find links to article

653–660. PMID 21916390. "Arthritis, Infectious". NORD (National Organization for Rare Disorders). 2009. Archived from the original on 21 February 2017

Spinal and bulbar muscular atrophy (4,938 words) [view diff] exact match in snippet view article find links to article

PMID 22609045. S2CID 207406950. "Kennedy's Disease Association - National Organization for Rare Disorders". rarediseases.org. 2023-01-06. Retrieved 2023-01-24. "Kennedy's

Johanna Rommens (1,350 words) [view diff] exact match in snippet view article find links to article

requires |journal= (help) "Shwachman Diamond Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2021-01-16. Whitcomb, David C. (2003-11-01)

Rett syndrome (6,112 words) [view diff] exact match in snippet view article find links to article

2017. Retrieved 14 October 2017. "Rett Syndrome". NORD (National Organization for Rare Disorders). 2015. Archived from the original on 19 February 2017

Acute radiation syndrome (6,828 words) [view diff] exact match in snippet view article find links to article

2019-06-26. Retrieved 2019-06-24. "Radiation Sickness". National Organization for Rare Disorders. Archived from the original on 12 August 2019. Retrieved

4-Hydroxyphenylpyruvate dioxygenase inhibitor (3,403 words) [view diff] exact match in snippet view article find links to article

Technologies to Co-Develop New Soybean Trait Products National Organization for Rare Disorders. Physician's Guide to Tyrosinemia Type 1 Archived 2014-02-11

Toxic heavy metal (4,536 words) [view diff] exact match in snippet view article find links to article

Capital Poison Center. 2010. "Heavy Metal Poisoning". National Organization for Rare Disorders. 2015. Retrieved 11 February 2016. National Research Council

Primate T-lymphotropic virus (2,996 words) [view diff] exact match in snippet view article find links to article

6981847. PMID 6981847. "HTLV Type I and Type II". NORD (National Organization for Rare Disorders). Retrieved 2019-02-22. Bartman MT, Kaidarova Z, Hirschkorn

Tampon (7,614 words) [view diff] exact match in snippet view article find links to article

Newsbeat. Retrieved 2019-10-19. "Toxic Shock Syndrome". NORD (National Organization for Rare Disorders). 2015-02-11. Retrieved 2019-10-19. "What You Need To Know

Bili light (2,392 words) [view diff] exact match in snippet view article find links to article

of Medicine. Retrieved 2020-07-31. "Kernicterus". NORD (National Organization for Rare Disorders). Retrieved 2020-07-31. Faulhaber FR, Procianoy RS, Silveira

Hallucinogen persisting perception disorder (4,822 words) [view diff] exact match in snippet view article find links to article

S2CID 39115198. "Visual Snow Initiative". "Visual Snow Syndrome". National Organization for Rare Disorders, Inc. "Exhibit 1.3-4, DSM-5 Diagnostic Criteria for PTSD"

Moebius syndrome (2,108 words) [view diff] exact match in snippet view article find links to article

S2CID 13234569. "Moebius Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2018-03-16. Kuklík

Soy allergy (4,979 words) [view diff] exact match in snippet view article find links to article

S2CID 6619743. "Food Protein-Induced Enterocolitis Syndrome". National Organization for Rare Disorders. Archived from the original on 19 February 2017. Ruffner

Benign paroxysmal positional vertigo (4,871 words) [view diff] exact match in snippet view article find links to article

PMID 25485940. "Benign Paroxysmal Positional Vertigo". NORD (National Organization for Rare Disorders). Retrieved 19 January 2020. "Positional vertigo: Overview"

USP7 (2,276 words) [view diff] exact match in snippet view article find links to article

PMC 4575888. PMID 26365382. "USP7 Related Diseases". National Organization for Rare Disorders (NORD). D'Andrea A, Pellman D (1999). "Deubiquitinating

Deaf plus (2,074 words) [view diff] exact match in snippet view article find links to article

2015-08-18. Retrieved 2021-04-12. "Usher Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2021-04-12. Pagon, Roberta A.; Graham, John

Hidradenitis suppurativa (5,893 words) [view diff] exact match in snippet view article find links to article

Index (DLQI) scores. "Hidradenitis Suppurativa". NORD (National Organization for Rare Disorders). 2012. Archived from the original on 19 February 2017

National Institute of Arthritis and Musculoskeletal and Skin Diseases (4,340 words) [view diff] exact match in snippet view article find links to article

Institute of Arthritis and Musculoskeletal and Skin Diseases". National Organization for Rare Disorders. Retrieved 24 October 2020. "IRP Mission". nih.gov. 15

Alpha-2-plasmin inhibitor deficiency (971 words) [view diff] exact match in snippet view article find links to article

Retrieved 2024-12-12. "alpha-2-plasmin inhibitor deficiency - National Organization for Rare Disorders". rarediseases.org. Retrieved 2024-12-12. "Alpha2-Plasmin

Progressive bifocal chorioretinal atrophy (1,047 words) [view diff] exact match in snippet view article find links to article

state. "Progressive bifocal chorioretinal atrophy". NORD (National Organization for Rare Disorders). 16 June 2022. Retrieved 2022-12-25. "Progressive bifocal

Dercum's disease (2,081 words) [view diff] exact match in snippet view article find links to article

PHD, MD. Retrieved 2022-09-07. "Dercum's Disease". NORD (National Organization for Rare Disorders). Retrieved 2022-09-07. "Learning About Dercum Disease"

Spasmodic dysphonia (5,015 words) [view diff] exact match in snippet view article find links to article

2017. Retrieved 16 July 2017. "Laryngeal Dystonia". NORD (National Organization for Rare Disorders). 2017. Archived from the original on 16 November 2016

Mucormycosis (5,652 words) [view diff] exact match in snippet view article find links to article

2005. PMC 1195964. PMID 16020690. "Mucormycosis". NORD (National Organization for Rare Disorders). Archived from the original on May 26, 2021. Retrieved

Cryptococcosis (5,198 words) [view diff] exact match in snippet view article find links to article

among the sources of infection. "Cryptococcosis". NORD (National Organization for Rare Disorders). Retrieved 5 June 2021. "Cryptococcosis". Lexico UK English

Narcolepsy (8,224 words) [view diff] exact match in snippet view article find links to article

psychosomatic research, 69(5), pp.511-520. "Narcolepsy". NORD (National Organization for Rare Disorders). Retrieved 15 March 2022. Green S (2011). Biological rhythms

Arthur Caplan (4,069 words) [view diff] exact match in snippet view article find links to article

In May 2016, he received the Rare Impact Award from the National Organization for Rare Disorders (NORD). The American Society for Bioethics & Humanities

Lesch–Nyhan syndrome (4,774 words) [view diff] exact match in snippet view article find links to article

PMC 5689413. PMID 29264027. "Lesch Nyhan Syndrome". NORD (National Organization for Rare Disorders). Retrieved 3 January 2023. Nanagiri, Apoorva; Shabbir

Neural tube defect (5,984 words) [view diff] exact match in snippet view article find links to article

Disorders and Stroke. 2019-03-27. "Hydranencephaly". NORD (National Organization for Rare Disorders). Retrieved 2020-05-12. "Fetal development: What happens

Erythromelalgia (6,122 words) [view diff] exact match in snippet view article find links to article

PMID 16908366. "Diagnosis". rare diseases.org. NORD - National Organization for Rare Disorders. Sandroni P, Davis MD (March 2006). "Combination gel of

List of primary immunodeficiencies (1,836 words) [view diff] exact match in snippet view article find links to article

PMID 31953710. "Common Variable Immune Deficiency". NORD (National Organization for Rare Disorders). Retrieved 5 March 2019. Notarangelo LD, Fischer A, Geha

Albinism (8,245 words) [view diff] exact match in snippet view article find links to article

Retrieved January 24, 2015. "Oculocutaneous Albinism". NORD (National Organization for Rare Disorders). Retrieved June 23, 2020. Gunnarsson, Ulrika; Hellström

Essential tremor (7,992 words) [view diff] exact match in snippet view article find links to article

Retrieved 17 June 2018. Louis ED. "Essential Tremor". National Organization for Rare Disorders. Retrieved 17 June 2018. Gironell A, Ribosa-Nogué R, Gich

Methylmalonic acidemias (4,446 words) [view diff] exact match in snippet view article find links to article

Retrieved 2015-11-03. "Acidemia, Methylmalonic". NORD (National Organization for Rare Disorders). Retrieved 2015-10-29. Alfares A, Nunez LD, Al-Thihli

Xeroderma pigmentosum (3,013 words) [view diff] exact match in snippet view article find links to article

PMC 2577106. PMID 18937855. "Xeroderma Pigmentosum". NORD (National Organization for Rare Disorders). 2017. Retrieved 28 June 2018. "Xeroderma pigmentosum"

Γ-Hydroxybutyric acid (9,448 words) [view diff] exact match in snippet view article find links to article

original on 18 August 2023. Retrieved 16 August 2021. National Organization for Rare Disorders. Succinic Semialdehyde Dehydrogenase Deficiency Archived

KIF1A (5,563 words) [view diff] exact match in snippet view article find links to article

PMC 8054982. PMID 33880452. "KIF1A-Related Disorder". NORD (National Organization for Rare Disorders). Retrieved 2021-04-14. Kaur S, Van Bergen NJ, Verhey KJ

Acromesomelic dysplasia (2,588 words) [view diff] exact match in snippet view article find links to article

ISBN 978-0-7817-3211-6. "Acromesomelic Dysplasia". NORD (National Organization for Rare Disorders). Retrieved 2015-09-19. "Acromesomelic dysplasia". Genetic

Tay–Sachs disease (6,478 words) [view diff] exact match in snippet view article find links to article

2017. Retrieved 29 May 2017. "Tay Sachs Disease". NORD (National Organization for Rare Disorders). 2017. Archived from the original on 20 February 2017

Polyploidy (8,898 words) [view diff] exact match in snippet view article find links to article

1115–1131. doi:10.1007/BF01734832. PMID 3323647. "Triploidy". National Organization for Rare Disorders. Retrieved 2018-12-23. Baker P, Monga A, Baker P (2006)

Visual pathway lesions (2,489 words) [view diff] exact match in snippet view article find links to article

Optic Chiasm". eyerounds.org. "Craniopharyngioma". NORD (National Organization for Rare Disorders). Bejjani, Ghassan K.; Cockerham, Kimberly P.; Kennerdell

Intersex (14,675 words) [view diff] exact match in snippet view article find links to article

2019. "Ovotesticular Disorder of Sex Development". NORD (National Organization for Rare Disorders). Archived from the original on 29 August 2020. Retrieved

Semantic memory (7,837 words) [view diff] exact match in snippet view article find links to article

names: authors list (link) "Encephalitis, Herpes Simplex". National Organization for Rare Disorders. 2009. Solca, Di Pietro, Schnider, Leemann (December 2013)

Severe intellectual disability-progressive spastic diplegia syndrome (2,374 words) [view diff] exact match in snippet view article find links to article

Diseases Information Center (GARD). 16 June 2022 – via National Organization for Rare Disorders, Inc. "Severe intellectual disability-progressive spastic

Dupuytren's contracture (7,035 words) [view diff] exact match in snippet view article find links to article

com. Retrieved 12 March 2018. "Dupuytren's Contracture". National Organization for Rare Disorders. 2005. Archived from the original on 10 September 2017

Dandy–Walker malformation (5,483 words) [view diff] exact match in snippet view article find links to article

PMID 12879343. S2CID 40944958. "Dandy Walker Malformation". NORD (National Organization for Rare Disorders). Retrieved 2020-01-06. Lumenta, Christianto B.; Skotarczak

Isolated superior mesenteric artery dissection (1,063 words) [view diff] exact match in snippet view article find links to article

Artery Syndrome - Symptoms, Causes, Treatment". NORD. National Organization for Rare Disorders. April 2022. Acosta, S; Gonçalves, FB (2021). "Management

Rare Disease Research (1,451 words) [view diff] exact match in snippet view article find links to article

22nd State to Establish a Rare Disease Advisory Council - National Organization for Rare Disorders". rarediseases.org. May 6, 2022. "Clinical Trials". Rare

Sickle cell disease (14,143 words) [view diff] exact match in snippet view article find links to article

Retrieved 8 January 2024. "Sickle Cell Disease". NORD (National Organization for Rare Disorders). Retrieved 10 June 2019. "Inheritance Patterns for Single

Heart (16,998 words) [view diff] exact match in snippet view article find links to article

PMID 30389366. S2CID 53270374. "Long QT Syndrome". NORD (National Organization for Rare Disorders). Retrieved 19 November 2022. "Catecholaminergic polymorphic

Osteoarthritis (14,170 words) [view diff] exact match in snippet view article find links to article

Retrieved 22 August 2021. "Arthritis, Infectious". NORD (National Organization for Rare Disorders). 2009. Archived from the original on 21 February 2017

Cystic fibrosis (18,316 words) [view diff] exact match in snippet view article find links to article

006. PMID 37211214. Sencen L. "Cystic Fibrosis". NORD (National Organization for Rare Disorders). Retrieved 29 July 2022. "Orphanet: Cystic fibrosis".

Tetralogy of Fallot (8,602 words) [view diff] exact match in snippet view article find links to article

Retrieved 2 October 2016. "Tetralogy of Fallot". NORD (National Organization for Rare Disorders). Archived from the original on 2021-11-10. Retrieved 2021-11-21

Spinal muscular atrophy (10,015 words) [view diff] exact match in snippet view article find links to article

Retrieved 27 May 2019. "Spinal Muscular Atrophy". NORD (National Organization for Rare Disorders). Retrieved 27 May 2019. "Spinal muscular atrophy". nhs

Glycogen storage disease type I (5,798 words) [view diff] exact match in snippet view article find links to article

S2CID 33840498. "Glycogen Storage Disease Type I". NORD (National Organization for Rare Disorders). Retrieved 2019-09-29. Gierke's syndrome at Whonamedit

Wolfram-like syndrome (2,430 words) [view diff] exact match in snippet view article find links to article

PMC 7223906. PMID 31698411. "Wolfram Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2022-10-07. Mair H, Fowler N, Sudhakar P, Maldonado

Autophagic vacuolar myopathy (2,589 words) [view diff] exact match in snippet view article find links to article

PMID 16702877. "X-Linked Myopathy with Excessive Autophagy". NORD (National Organization for Rare Disorders). Retrieved 2020-04-06. Vissing J, Lukacs Z, Straub V (July

Salt and pepper syndrome (2,378 words) [view diff] exact match in snippet view article find links to article

condition suffer from. "GM3 synthase deficiency". NORD (National Organization for Rare Disorders). Retrieved 2022-10-09. "salt and pepper mental retardation

Race and health (11,565 words) [view diff] exact match in snippet view article find links to article

Mississippi, 1995. Chapter 2. "Tay Sachs Disease". NORD (National Organization for Rare Disorders). 2017. Archived from the original on 20 February 2017

List of skin conditions (17,971 words) [view diff] exact match in snippet view article find links to article

"GARD Rare Disease Information - Eccrine porocarcinoma - National Organization for Rare Disorders". rarediseases.org. 16 June 2022. St-Amant, Maxime. "Porocarcinoma

L1 syndrome (3,533 words) [view diff] exact match in snippet view article find links to article

Seattle, PMID 20301682, retrieved 2019-03-27 "Hereditary Spastic Paraplegia". NORD (National Organization for Rare Disorders). Retrieved 2019-03-27.

Hyperbilirubinemia in adults (3,363 words) [view diff] exact match in snippet view article find links to article

ISBN 978-1-4377-0881-3, retrieved 2022-03-29 "Gilbert Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2022-03-29. Koff, Raymond S. (1992). "Clinical

Spongy degeneration of the central nervous system (3,567 words) [view diff] exact match in snippet view article find links to article

biochi.2012.10.023. PMID 23151389. "Canavan Disease". NORD (National Organization for Rare Disorders). Retrieved 2021-03-31. Namboodiri AM, Peethambaran A,

Facioscapulohumeral muscular dystrophy (16,445 words) [view diff] exact match in snippet view article find links to article

April 2022. Retrieved 12 April 2022. "FSHD Society". NORD (National Organization for Rare Disorders). Archived from the original on 2022-05-13. Retrieved 2022-04-12

Functional neurologic disorder (2,801 words) [view diff] exact match in snippet view article find links to article

PMID 21365066. "Functional Neurological Disorder". NORD (National Organization for Rare Disorders). Retrieved 2022-01-20. Nielsen G, Stone J, Edwards MJ