Branchio-Oto-Renal Syndrome
"Branchio-Oto-Renal 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.
An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)
Descriptor ID |
D019280
|
MeSH Number(s) |
C16.131.077.208 C16.131.260.090 C16.320.180.090
|
Concept/Terms |
Branchio-Oto-Renal Syndrome- Branchio-Oto-Renal Syndrome
- Branchio Oto Renal Syndrome
- Syndrome, Branchio-Oto-Renal
- Branchio-Otorenal Dysplasia
- Branchio-Otorenal Syndrome
- Branchiootorenal Syndrome 1
- Melnick-Fraser Syndrome
- Melnick Fraser Syndrome
- Syndrome, Melnick-Fraser
- BOR Syndrome
- Syndrome, BOR
- Branchiootorenal Dysplasia
- Dysplasia, Branchiootorenal
Branchio-Oculo-Facial Syndrome- Branchio-Oculo-Facial Syndrome
- Branchio Oculo Facial Syndrome
- Syndrome, Branchio-Oculo-Facial
- Branchial Clefts with Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging
- Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome
- Lip Pseudocleft Hemangiomatous Branchial Cyst Syndrome
- Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome
- Hemangiomatous Branchial Clefts Lip Pseudocleft Syndrome
- Lee Root Fenske Syndrome
- BOF Syndrome
- Syndrome, BOF
- Branchiooculofacial Syndrome
- Syndrome, Branchiooculofacial
|
Below are MeSH descriptors whose meaning is more general than "Branchio-Oto-Renal Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Branchio-Oto-Renal Syndrome".
This graph shows the total number of publications written about "Branchio-Oto-Renal Syndrome" by people in this website by year, and whether "Branchio-Oto-Renal 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 |
---|
2009 | 1 | 0 | 1 | 2013 | 2 | 0 | 2 |
To return to the timeline, click here.
Below are the most recent publications written about "Branchio-Oto-Renal Syndrome" by people in Profiles.
-
Li H, Sheridan R, Williams T. Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2a DNA-binding domain. Hum Mol Genet. 2013 Aug 15; 22(16):3195-206.
-
Patrick AN, Cabrera JH, Smith AL, Chen XS, Ford HL, Zhao R. Structure-function analyses of the human SIX1-EYA2 complex reveal insights into metastasis and BOR syndrome. Nat Struct Mol Biol. 2013 Apr; 20(4):447-53.
-
Patrick AN, Schiemann BJ, Yang K, Zhao R, Ford HL. Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations. J Biol Chem. 2009 Jul 31; 284(31):20781-90.
|
People People who have written about this concept. _
Similar Concepts
People who have written about this concept.
_
Top Journals
Top journals in which articles about this concept have been published.
|