 Fraser Syndrome
"Fraser Syndrome" 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.
Rare autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, SYNDACTYLY and UROGENITAL ABNORMALITIES. Other anomalies of bone, ear, lung, and nose are common. Mutations on FRAS1 and FREM2 are associated with the syndrome.
| Descriptor ID |
D058497
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| MeSH Number(s) |
C05.116.099.370.894.819.428 C05.660.585.800.428 C05.660.906.819.428 C11.250.390 C12.706.410 C13.351.875.397 C16.131.077.371 C16.131.384.442 C16.131.621.585.800.428 C16.131.621.906.819.428 C16.131.939.410
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| Concept/Terms |
Fraser Syndrome- Fraser Syndrome
- Syndrome, Fraser
- Cryptophthalmos with Other Malformations
- Cryptophthalmos-Syndactyly Syndrome
- Cryptophthalmos Syndactyly Syndrome
- Cryptophthalmos-Syndactyly Syndromes
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Below are MeSH descriptors whose meaning is more general than "Fraser Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Fraser Syndrome".
This graph shows the total number of publications written about "Fraser Syndrome" by people in this website by year, and whether "Fraser Syndrome" 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 |
|---|
| 2018 | 1 | 0 | 1 |
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Below are the most recent publications written about "Fraser Syndrome" by people in Profiles.
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van der Ven AT, Kobbe B, Kohl S, Shril S, Pogoda HM, Imhof T, Ityel H, Vivante A, Chen J, Hwang DY, Connaughton DM, Mann N, Widmeier E, Taglienti M, Schmidt JM, Nakayama M, Senguttuvan P, Kumar S, Tasic V, Kehinde EO, Mane SM, Lifton RP, Soliman N, Lu W, Bauer SB, Hammerschmidt M, Wagener R, Hildebrandt F. A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux. PLoS One. 2018; 13(1):e0191224.
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