 Phenotype
"Phenotype" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
| Descriptor ID |
D010641
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| MeSH Number(s) |
G05.695
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| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Phenotype".
Below are MeSH descriptors whose meaning is more specific than "Phenotype".
This graph shows the total number of publications written about "Phenotype" by people in this website by year, and whether "Phenotype" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1996 | 0 | 3 | 3 | | 1997 | 0 | 1 | 1 | | 1998 | 1 | 4 | 5 | | 1999 | 0 | 5 | 5 | | 2000 | 0 | 2 | 2 | | 2001 | 0 | 1 | 1 | | 2002 | 0 | 4 | 4 | | 2003 | 0 | 4 | 4 | | 2004 | 0 | 10 | 10 | | 2005 | 1 | 3 | 4 | | 2006 | 0 | 6 | 6 | | 2007 | 0 | 6 | 6 | | 2008 | 1 | 10 | 11 | | 2009 | 0 | 4 | 4 | | 2010 | 0 | 15 | 15 | | 2011 | 0 | 11 | 11 | | 2012 | 0 | 9 | 9 | | 2013 | 1 | 17 | 18 | | 2014 | 0 | 9 | 9 | | 2015 | 0 | 10 | 10 | | 2016 | 2 | 9 | 11 | | 2017 | 2 | 12 | 14 | | 2018 | 2 | 9 | 11 | | 2019 | 2 | 11 | 13 | | 2020 | 2 | 15 | 17 | | 2021 | 0 | 21 | 21 | | 2022 | 0 | 10 | 10 | | 2023 | 0 | 8 | 8 | | 2024 | 4 | 14 | 18 | | 2025 | 0 | 12 | 12 | | 2026 | 0 | 2 | 2 |
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Below are the most recent publications written about "Phenotype" by people in Profiles.
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Parenti I, Hesters A, Gil-Salvador M, Duffy L, Kanber D, Beygo J, Kerkhof J, Steenpa? L, Leit?o E, Woestefeld J, Boone PM, Kao EM, Alabdi L, Aldhalaan HM, Alkuraya FS, Alshammari MJ, Antonarakis SE, Basel D, Cassinari K, de Polli Cellin L, Clause AR, de Lima Jorge AA, de Castro Leal A, Collins SC, Durand B, Eckhold J, Hashem MO, Jayakar P, Khan AO, Kato K, Kubica R, Lyon GJ, Marchi E, McCarrier J, Kimmig LK, Mizuno S, Nicolas G, Nishio Y, Ogi T, Pi? J, Prell J, Puisac B, Ramos FJ, Ranza E, Redin C, Rush E, Saitoh S, Shamseldin HE, Starling S, Astiazaran-Symonds E, Eltahir SH, Kuechler A, Sadikovic B, Yalcin B, Wendt KS, Kaiser FJ. Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype. Nat Commun. 2026 03 30; 17(1).
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Montero-Lopez R, Farman MR, H?gler F, Rehder C, Malli T, Webersinke G, Rockman-Greenberg C, Dahir K, Martos-Moreno G?, Linglart A, Ozono K, Seefried L, Del Angel G, Nading EB, Huggins E, Rush ET, Tauer JT, Kishnani PS, H?gler W. Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants. J Bone Miner Res. 2026 Mar 02; 41(3):259-269.
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Samarasinghe SR, Gaedigk A, Swen JJ, Guchelaar HJ, Nagaraj SH. Long-Read Sequencing Enhances Pharmacogenomic Profiling by Resolving Complex Haplotypes, Novel Star Alleles, and Structural Variants. Clin Pharmacol Ther. 2026 Feb; 119(2):536-545.
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Kishnani PS, Rehder C, Ozono K, P?rez-L?pez J, Del Angel G, Mowrey WR, Balasubramanian M, H?gler W, Rush ET. Revisiting the Genetics of Hypophosphatasia. J Inherit Metab Dis. 2025 Nov; 48(6):e70083.
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Osmond M, Price EM, Buske OJ, Frew M, Couse M, Hartley T, Klamann C, Le HGBH, Xu J, So D, Jain A, Lu K, Mo K, Wyllie H, Wall E, Driver HG, Cheung WA, Cohen ASA, Farrow EG, Thiffault I, Consortium CRC, Turinsky AL, Pastinen T, Brudno M, Boycott KM. One-Sided Matching Portal (OSMP): A Tool to Facilitate Rare Disease Patient Matchmaking. Hum Mutat. 2025; 2025:5941599.
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Eadon MT, Hein DW, Andersen MA, Chapman AB, Cooper-DeHoff RM, Desta Z, Duarte JD, Elchynski AL, Gaedigk A, Karol SE, Limdi NA, Lteif C, Sosinski L, Zubiaur P, Whirl-Carrillo M, Klein TE, Caudle KE, Donnelly RS, Ag?ndez JAG. Clinical Pharmacogenetics Implementation Consortium Guideline for NAT2 Genotype and Hydralazine Therapy. Clin Pharmacol Ther. 2025 Dec; 118(6):1430-1436.
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Watts JL, Willeke L, Stottmann RW. Mouse variants in Taf1c result in reduced survival to birth. Dev Biol. 2025 Dec; 528:143-151.
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Vandriel SM, Li LT, She H, Wang JS, Loomes KM, Piccoli DA, Jankowska I, Czubkowski P, Gliwicz-Miedzinska D, D'Antiga L, Nicastro E, Lacaille F, Debray D, Sokal ?M, Demaret T, Fawaz RL, Nastasio S, Kim KM, Oh SH, Fischler B, Arnell H, Larson-Nath C, Hardikar W, Shankar S, Sundaram SS, Chaidez A, Bulut P, Calvo PL, Kasahara M, Blondet N, Lurz E, Kavallar AM, Gonzales EM, Jacquemin E, Bouligand J, Ebel NH, Feinstein JA, Siew SM, Stormon MO, Karpen SJ, Romero R, Jensen MK, Jaramillo C, Squires JE, Bedoyan SM, Kelly DA, Hartley J, Verkade HJ, Lee WS, Lertudomphonwanit C, Fischer RT, Lin HC, Rock N, Mozer-Glassberg Y, Roberts AJ, Evans HM, Karnsakul W, Nebbia G, Wolters VM, Valentino PL, Bernabeu JQ, Aqul AA, Arikan C, Tamara ML, Busoms CM, Sandahl TD, Indolfi G, Zizzo AN, Zellos A, Quiros-Tejeira RE, Santos-Silva E, Schwarz KB, Brecelj J, Sanchez MC, Cavalieri ML, Tzivinikos C, Wiecek S, Eshun J, Kerkar N, Mujawar Q, ?nal Z, Gon?alves C, Garcia J, Alam S, Jimenez-Rivera C, Bujanda L, Thompson RJ, Hansen BE, Spinner NB, Gilbert MA, Kamath BM. Phenotypic Divergence of JAG1- and NOTCH2-Associated Alagille Syndrome & Disease-Specific NOTCH2 Variant Classification Guidelines. Liver Int. 2025 Sep; 45(9):e70251.
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Mokhtari A, Charbonneau J, Miranda V, Jizi K, Delrue MA, Egerszegi P, Thiffault I, Campeau PM. Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes. Clin Genet. 2026 Mar; 109(3):424-436.
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Aoyama BC, Collaco JM, Agarwal A, Akangire G, Austin ED, Bansal M, Bhandari A, Ioana Cristea A, Hayden LP, Levin JC, Manimtim WM, Miller AN, Moore PE, Popova AP, Rhein LM, Sheils CA, Abman SH, Baker CD, Dawson SK, Abul MH, Henningfeld JK, Lagatta JM, Siddaiah R, Stephenson N, Toprak D, McGrath-Morrow SA. Allergy and atopic phenotype are associated with earlier gestation and severity of respiratory symptoms in bronchopulmonary dysplasia. Pediatr Res. 2026 Jan; 99(1):209-214.
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