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Disease

MedGen UID:
4347
Concept ID:
C0012634
Disease or Syndrome
Synonym: Disease or disorder
SNOMED CT: Disease (64572001); Clinical disease AND/OR syndrome (64572001); Disorder (64572001); Disorders (64572001); Diseases (64572001)
 
Monarch Initiative: MONDO:0000001
Orphanet: ORPHA377788

Definition

A disorder with homogeneous therapeutic possibilities and an identified pathophysiological mechanism. Developmental anomalies are excluded. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Disease

Professional guidelines

PubMed

Kidney Disease: Improving Global Outcomes (KDIGO) Diabetes Work Group
Kidney Int 2022 Nov;102(5S):S1-S127. doi: 10.1016/j.kint.2022.06.008. PMID: 36272764
Succoio M, Sacchettini R, Rossi A, Parenti G, Ruoppolo M
Biomolecules 2022 Jul 11;12(7) doi: 10.3390/biom12070968. PMID: 35883524Free PMC Article
Garcia-Pavia P, Rapezzi C, Adler Y, Arad M, Basso C, Brucato A, Burazor I, Caforio ALP, Damy T, Eriksson U, Fontana M, Gillmore JD, Gonzalez-Lopez E, Grogan M, Heymans S, Imazio M, Kindermann I, Kristen AV, Maurer MS, Merlini G, Pantazis A, Pankuweit S, Rigopoulos AG, Linhart A
Eur Heart J 2021 Apr 21;42(16):1554-1568. doi: 10.1093/eurheartj/ehab072. PMID: 33825853Free PMC Article

Recent clinical studies

Etiology

The WCOTROCHADIC
Biomed Environ Sci 2023 Aug 20;36(8):669-701. doi: 10.3967/bes2023.106. PMID: 37711081
Perry GH
Elife 2021 Jul 22;10 doi: 10.7554/eLife.69398. PMID: 34291730Free PMC Article
Armstrong R
Folia Neuropathol 2020;58(2):93-112. doi: 10.5114/fn.2020.96707. PMID: 32729289
Dharmadasa T, Matamala JM, Huynh W, Zoing MC, Kiernan MC
Handb Clin Neurol 2018;159:345-357. doi: 10.1016/B978-0-444-63916-5.00022-7. PMID: 30482326
Best WR, Becktel JM, Singleton JW, Kern F Jr
Gastroenterology 1976 Mar;70(3):439-44. PMID: 1248701

Diagnosis

Kim SJ, Mesquita FCP, Hochman-Mendez C
Tex Heart Inst J 2023 Oct 16;50(5) doi: 10.14503/THIJ-23-8178. PMID: 37846107Free PMC Article
Gupta S, Allegretti JR
Gastroenterol Clin North Am 2022 Jun;51(2):241-269. Epub 2022 Apr 27 doi: 10.1016/j.gtc.2021.12.006. PMID: 35595413
Maritati F, Peyronel F, Vaglio A
Rheumatology (Oxford) 2020 May 1;59(Suppl 3):iii123-iii131. doi: 10.1093/rheumatology/kez667. PMID: 32348524
Sánchez-Oro R, Alonso-Muñoz EM, Martí Romero L
Gastroenterol Hepatol 2019 Dec;42(10):638-647. Epub 2019 Nov 11 doi: 10.1016/j.gastrohep.2019.08.009. PMID: 31722794
Soumerai JD, Sohani AR, Abramson JS
Cancer Control 2014 Oct;21(4):266-78. doi: 10.1177/107327481402100403. PMID: 25310208

Therapy

Schulz KF, Chalmers I, Altman DG, Grimes DA, Moher D, Hayes RJ
J R Soc Med 2018 Jun;111(6):216-224. doi: 10.1177/0141076818776604. PMID: 29877772Free PMC Article
Huttner A, Leibovici L, Theuretzbacher U, Huttner B, Paul M
Clin Microbiol Infect 2017 Feb;23(2):73-77. Epub 2016 Aug 3 doi: 10.1016/j.cmi.2016.07.029. PMID: 27497812
Weimer K, Enck P
Handb Exp Pharmacol 2014;225:237-72. doi: 10.1007/978-3-662-44519-8_14. PMID: 25304536
Oberg AL, Vitek O
J Proteome Res 2009 May;8(5):2144-56. doi: 10.1021/pr8010099. PMID: 19222236
Mungall MM, Gaw A
Curr Opin Lipidol 2004 Aug;15(4):453-7. doi: 10.1097/01.mol.0000137230.77148.ee. PMID: 15243219

Prognosis

Daily K, Douglas E, Romitti PA, Thomas A
Clin Breast Cancer 2021 Aug;21(4):302-308. Epub 2021 Jan 31 doi: 10.1016/j.clbc.2021.01.017. PMID: 33750642
Mittra I, Mishra GA, Dikshit RP, Gupta S, Kulkarni VY, Shaikh HKA, Shastri SS, Hawaldar R, Gupta S, Pramesh CS, Badwe RA
BMJ 2021 Feb 24;372:n256. doi: 10.1136/bmj.n256. PMID: 33627312Free PMC Article
Donnelly DW, Gavin AT
Ulster Med J 2016 Sep;85(3):158-163. PMID: 27698517Free PMC Article
Damgaard Sandahl T
Dan Med J 2014 Oct;61(10):B4755. PMID: 25283626
Diaz KM, Tanner RM, Falzon L, Levitan EB, Reynolds K, Shimbo D, Muntner P
Hypertension 2014 Nov;64(5):965-82. Epub 2014 Jul 28 doi: 10.1161/HYPERTENSIONAHA.114.03903. PMID: 25069669Free PMC Article

Clinical prediction guides

Hu JX, Zhao CF, Wang SL, Tu XY, Huang WB, Chen JN, Xie Y, Chen CR
World J Gastroenterol 2023 Oct 7;29(37):5268-5291. doi: 10.3748/wjg.v29.i37.5268. PMID: 37899784Free PMC Article
Lee DW, Cho CM
Medicina (Kaunas) 2022 Jun 11;58(6) doi: 10.3390/medicina58060787. PMID: 35744050Free PMC Article
Gerwin N, Bendele AM, Glasson S, Carlson CS
Osteoarthritis Cartilage 2010 Oct;18 Suppl 3:S24-34. doi: 10.1016/j.joca.2010.05.030. PMID: 20864021
Kleiner DE, Brunt EM, Van Natta M, Behling C, Contos MJ, Cummings OW, Ferrell LD, Liu YC, Torbenson MS, Unalp-Arida A, Yeh M, McCullough AJ, Sanyal AJ; Nonalcoholic Steatohepatitis Clinical Research Network
Hepatology 2005 Jun;41(6):1313-21. doi: 10.1002/hep.20701. PMID: 15915461
Agatston AS, Janowitz WR, Hildner FJ, Zusmer NR, Viamonte M Jr, Detrano R
J Am Coll Cardiol 1990 Mar 15;15(4):827-32. doi: 10.1016/0735-1097(90)90282-t. PMID: 2407762

Recent systematic reviews

Serrano Fernandez V, Seldas Palomino M, Laredo-Aguilera JA, Pozuelo-Carrascosa DP, Carmona-Torres JM
Nutrients 2023 Jul 12;15(14) doi: 10.3390/nu15143114. PMID: 37513532Free PMC Article
Dan X, Wechter N, Gray S, Mohanty JG, Croteau DL, Bohr VA
Ageing Res Rev 2021 Sep;70:101416. Epub 2021 Jul 27 doi: 10.1016/j.arr.2021.101416. PMID: 34325072Free PMC Article
Fritz D, van de Beek D, Brouwer MC
BMC Neurol 2016 Nov 15;16(1):220. doi: 10.1186/s12883-016-0741-x. PMID: 27846819Free PMC Article
Pringsheim T, Jette N, Frolkis A, Steeves TD
Mov Disord 2014 Nov;29(13):1583-90. Epub 2014 Jun 28 doi: 10.1002/mds.25945. PMID: 24976103
Vakil N, van Zanten SV, Kahrilas P, Dent J, Jones R; Global Consensus Group
Am J Gastroenterol 2006 Aug;101(8):1900-20; quiz 1943. doi: 10.1111/j.1572-0241.2006.00630.x. PMID: 16928254

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