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Phenotypic abnormality

MedGen UID:
867443
Concept ID:
C4021819
Anatomical Abnormality
Synonym: Organ abnormality
 
HPO: HP:0000118

Definition

A phenotypic abnormality. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPhenotypic abnormality

Professional guidelines

PubMed

Yue F, Yu Y, Xi Q, Zhang H, Jiang Y, Li S, Liu R, Wang R
Medicine (Baltimore) 2019 Dec;98(49):e18258. doi: 10.1097/MD.0000000000018258. PMID: 31804359Free PMC Article
Chen CP, Chen M, Chen CY, Chern SR, Wu PS, Chang SP, Kuo YL, Chen WL, Pan CW, Wang W
Gene 2014 Feb 25;536(2):425-9. Epub 2013 Dec 25 doi: 10.1016/j.gene.2013.12.036. PMID: 24374139

Recent clinical studies

Etiology

Aren M, Marce S, Jurado R, Tapia G, Puigdefabregues L, Raya M, Cortes M, Garcia-Caro M, Junca J, Mozas P, Viñets E, Cabezon M, Plensa E, Miljkovic M, Sancho JM, Navarro JT, Zamora L, Sorigue M
Cytometry B Clin Cytom 2022 Nov;102(6):427-439. Epub 2022 Oct 31 doi: 10.1002/cyto.b.22098. PMID: 36314855
Feng R, Bhatt VR, Fu K, Pirruccello S, Yuan J
Cytometry B Clin Cytom 2018 Nov;94(6):901-909. Epub 2018 Oct 17 doi: 10.1002/cyto.b.21721. PMID: 30334354
Close S, Fennoy I, Smaldone A, Reame N
J Pediatr 2015 Sep;167(3):650-7. Epub 2015 Jul 21 doi: 10.1016/j.jpeds.2015.06.037. PMID: 26205184Free PMC Article
Qiao Y, Mercier E, Dastan J, Hurlburt J, McGillivray B, Chudley AE, Farrell S, Bernier FP, Lewis MS, Pavlidis P, Rajcan-Separovic E
BMC Med Genet 2014 Jul 16;15:82. doi: 10.1186/1471-2350-15-82. PMID: 25030379Free PMC Article
Abrams L, Cotter PD
Clin Genet 2004 May;65(5):423-8. doi: 10.1111/j.0009-9163.2004.00255.x. PMID: 15099352

Diagnosis

Chen CP, Chern SR, Wu PS, Chen SW, Wu FT, Town DD, Wang W
Taiwan J Obstet Gynecol 2019 Nov;58(6):855-858. doi: 10.1016/j.tjog.2019.08.002. PMID: 31759542
Feng R, Bhatt VR, Fu K, Pirruccello S, Yuan J
Cytometry B Clin Cytom 2018 Nov;94(6):901-909. Epub 2018 Oct 17 doi: 10.1002/cyto.b.21721. PMID: 30334354
Chen CP, Chern SR, Chen YN, Chen SW, Wu PS, Yang CW, Lee CC, Lee MS, Pan CW, Wang W
Taiwan J Obstet Gynecol 2017 Apr;56(2):217-223. doi: 10.1016/j.tjog.2017.01.002. PMID: 28420511
Chen CP, Chen M, Chen CY, Chern SR, Wu PS, Chang SP, Kuo YL, Chen WL, Pan CW, Wang W
Gene 2014 Feb 25;536(2):425-9. Epub 2013 Dec 25 doi: 10.1016/j.gene.2013.12.036. PMID: 24374139
Abrams L, Cotter PD
Clin Genet 2004 May;65(5):423-8. doi: 10.1111/j.0009-9163.2004.00255.x. PMID: 15099352

Prognosis

Janus C, Flores AY, Xu G, Borchelt DR
Neurobiol Aging 2015 Sep;36(9):2519-32. Epub 2015 May 21 doi: 10.1016/j.neurobiolaging.2015.05.010. PMID: 26089165
Corbett MA, Bahlo M, Jolly L, Afawi Z, Gardner AE, Oliver KL, Tan S, Coffey A, Mulley JC, Dibbens LM, Simri W, Shalata A, Kivity S, Jackson GD, Berkovic SF, Gecz J
Am J Hum Genet 2010 Sep 10;87(3):371-5. doi: 10.1016/j.ajhg.2010.08.001. PMID: 20797691Free PMC Article
Al-Mansouri LJ, Alokail MS
Saudi Med J 2006 Jan;27(1):9-16. PMID: 16432586
Cotter PD, Drexler K, Corley AL, Covert SM, Moland JS, Govberg IJ, Norton ME
Gynecol Obstet Invest 2005;60(1):27-38. Epub 2005 Jan 24 doi: 10.1159/000083482. PMID: 15689640
Fleck DE, Shear PK, Strakowski SM
J Int Neuropsychol Soc 2005 Jan;11(1):49-57. doi: 10.1017/S1355617705050071. PMID: 15686608

Clinical prediction guides

Feng R, Bhatt VR, Fu K, Pirruccello S, Yuan J
Cytometry B Clin Cytom 2018 Nov;94(6):901-909. Epub 2018 Oct 17 doi: 10.1002/cyto.b.21721. PMID: 30334354
Close S, Fennoy I, Smaldone A, Reame N
J Pediatr 2015 Sep;167(3):650-7. Epub 2015 Jul 21 doi: 10.1016/j.jpeds.2015.06.037. PMID: 26205184Free PMC Article
Qiao Y, Mercier E, Dastan J, Hurlburt J, McGillivray B, Chudley AE, Farrell S, Bernier FP, Lewis MS, Pavlidis P, Rajcan-Separovic E
BMC Med Genet 2014 Jul 16;15:82. doi: 10.1186/1471-2350-15-82. PMID: 25030379Free PMC Article
Oshtory S, Apisarnthanarax N, Gilliam AC, Cooper KD, Meyerson HJ
J Am Acad Dermatol 2007 Sep;57(3):454-62. doi: 10.1016/j.jaad.2007.01.017. PMID: 17707150
Wood RJ, Han O
J Nutr 1998 Nov;128(11):1841-4. doi: 10.1093/jn/128.11.1841. PMID: 9808632

Recent systematic reviews

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