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Abnormal cellular phenotype

MedGen UID:
Concept ID:
Cell or Molecular Dysfunction
HPO: HP:0025354


An anomaly of cellular morphology or physiology. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal cellular phenotype

Professional guidelines


Salcedo-Arellano MJ, Hagerman RJ, Martínez-Cerdeño V
Gac Med Mex 2020;156(1):60-66. doi: 10.24875/GMM.19005275. PMID: 32026885
Giammarco S, Chiusolo P, Piccirillo N, Di Giovanni A, Metafuni E, Laurenti L, Sica S, Pagano L
Expert Rev Hematol 2017 Feb;10(2):147-154. Epub 2016 Dec 26 doi: 10.1080/17474086.2017.1270754. PMID: 27967252
Engel AG, Shen XM, Selcen D, Sine SM
Lancet Neurol 2015 Apr;14(4):420-34. doi: 10.1016/S1474-4422(14)70201-7. PMID: 25792100Free PMC Article

Recent clinical studies


Falik-Zaccai TC, Laskar M, Kfir N, Nasser W, Slor H, Khayat M
Am J Med Genet A 2008 Jun 1;146A(11):1423-9. doi: 10.1002/ajmg.a.32309. PMID: 18446857


Wu J, Ma Y, Chen Y
J Nanobiotechnology 2023 May 5;21(1):147. doi: 10.1186/s12951-023-01911-5. PMID: 37147634Free PMC Article


Liu JM, Auerbach AD, Anderson SM, Green SW, Young NS
Br J Haematol 1993 Oct;85(2):406-8. doi: 10.1111/j.1365-2141.1993.tb03186.x. PMID: 8280614

Clinical prediction guides

Garcia-Arocena D, Yang JE, Brouwer JR, Tassone F, Iwahashi C, Berry-Kravis EM, Goetz CG, Sumis AM, Zhou L, Nguyen DV, Campos L, Howell E, Ludwig A, Greco C, Willemsen R, Hagerman RJ, Hagerman PJ
Hum Mol Genet 2010 Jan 15;19(2):299-312. Epub 2009 Oct 28 doi: 10.1093/hmg/ddp497. PMID: 19864489Free PMC Article

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