Congenital Hypothyroidism
"Congenital Hypothyroidism" 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.
A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can be caused by genetic or environmental factors, such as thyroid dysgenesis or HYPOTHYROIDISM in infants of mothers treated with THIOURACIL during pregnancy. Endemic cretinism is the result of iodine deficiency. Clinical symptoms include severe MENTAL RETARDATION, impaired skeletal development, short stature, and MYXEDEMA.
Descriptor ID |
D003409
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MeSH Number(s) |
C05.116.099.343.347 C05.116.132.256 C16.320.240.625 C19.297.155 C19.874.482.281
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Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Congenital Hypothyroidism".
Below are MeSH descriptors whose meaning is more specific than "Congenital Hypothyroidism".
This graph shows the total number of publications written about "Congenital Hypothyroidism" by people in this website by year, and whether "Congenital Hypothyroidism" 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 |
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2015 | 1 | 0 | 1 | 2016 | 1 | 0 | 1 | 2020 | 1 | 0 | 1 |
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Below are the most recent publications written about "Congenital Hypothyroidism" by people in Profiles.
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Choufani S, Gibson WT, Turinsky AL, Chung BHY, Wang T, Garg K, Vitriolo A, Cohen ASA, Cyrus S, Goodman S, Chater-Diehl E, Brzezinski J, Brudno M, Ming LH, White SM, Lynch SA, Clericuzio C, Temple IK, Flinter F, McConnell V, Cushing T, Bird LM, Splitt M, Kerr B, Scherer SW, Machado J, Imagawa E, Okamoto N, Matsumoto N, Testa G, Iascone M, Tenconi R, Caluseriu O, Mendoza-Londono R, Chitayat D, Cytrynbaum C, Tatton-Brown K, Weksberg R. DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes. Am J Hum Genet. 2020 05 07; 106(5):596-610.
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Magne F, Ge B, Larriv?e-Vanier S, Van Vliet G, Samuels ME, Pastinen T, Delado?y J. Demonstration of Autosomal Monoallelic Expression in Thyroid Tissue Assessed by Whole-Exome and Bulk RNA Sequencing. Thyroid. 2016 06; 26(6):852-9.
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Cohen AS, Tuysuz B, Shen Y, Bhalla SK, Jones SJ, Gibson WT. A novel mutation in EED associated with overgrowth. J Hum Genet. 2015 Jun; 60(6):339-42.
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Warady BA, Howard CP, Hellerstein S, Alon U, Grunt JA. Congenital nephrosis in association with hypothyroidism and hypoadrenocorticism. Pediatr Nephrol. 1993 Feb; 7(1):79-80.
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Holcomb GW, Perloff LJ. Primary hyperparathyroidism in a hypothyroid child. Surgery. 1990 Sep; 108(3):588-92.
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