 Coloboma
"Coloboma" 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.
Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.
| Descriptor ID |
D003103
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| MeSH Number(s) |
C11.250.110 C16.131.384.282
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| Concept/Terms |
Coloboma- Coloboma
- Colobomas
- Coloboma, Uveoretinal
- Coloboma Of Iris, Choroid, And Retina
- Uveoretinal Coloboma
- Coloboma, Ocular
- Ocular Coloboma
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Below are MeSH descriptors whose meaning is more general than "Coloboma".
Below are MeSH descriptors whose meaning is more specific than "Coloboma".
This graph shows the total number of publications written about "Coloboma" by people in this website by year, and whether "Coloboma" 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 |
|---|
| 2007 | 1 | 0 | 1 | | 2008 | 0 | 1 | 1 | | 2013 | 1 | 0 | 1 |
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Below are the most recent publications written about "Coloboma" by people in Profiles.
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Brisighelli G, Bischoff A, Levitt M, Hall J, Monti E, Pe?a A. Coloboma and anorectal malformations: a rare association with important clinical implications. Pediatr Surg Int. 2013 Sep; 29(9):905-12.
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Doherty D, Parisi MA, Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, Clericuzio C, Demir H, Dorschner M, van Essen AJ, Gahl WA, Gentile M, Gorden NT, Hikida A, Knutzen D, Ozyurek H, Phelps I, Rosenthal P, Verloes A, Weigand H, Chance PF, Dobyns WB, Glass IA. Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). J Med Genet. 2010 Jan; 47(1):8-21.
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Jalali GR, Vorstman JA, Errami A, Vijzelaar R, Biegel J, Shaikh T, Emanuel BS. Detailed analysis of 22q11.2 with a high density MLPA probe set. Hum Mutat. 2008 Mar; 29(3):433-40.
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Kim TH, Goodman J, Anderson KV, Niswander L. Phactr4 regulates neural tube and optic fissure closure by controlling PP1-, Rb-, and E2F1-regulated cell-cycle progression. Dev Cell. 2007 Jul; 13(1):87-102.
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Walton WT, Enzenauer RW, Cornell FM. Abortive cryptophthalmos: a case report and a review of cryptophthalmos. J Pediatr Ophthalmol Strabismus. 1990 May-Jun; 27(3):129-32.
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