 CHARGE Syndrome
"CHARGE 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 disease characterized by COLOBOMA; CHOANAL ATRESIA; and abnormal SEMICIRCULAR CANALS. Mutations in CHD7 protein resulting in disturbed neural crest development are associated with CHARGE Syndrome.
| Descriptor ID |
D058747
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| MeSH Number(s) |
C16.131.077.239 C16.320.165
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| Concept/Terms |
CHARGE Syndrome- CHARGE Syndrome
- CHARGE Syndromes
- Syndrome, CHARGE
- CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies
- CHARGE Association
- Association, CHARGE
- Associations, CHARGE
- CHARGE Associations
- Hall-Hittner Syndrome
- Hall Hittner Syndrome
- Syndrome, Hall-Hittner
Familial CHARGE Syndrome- Familial CHARGE Syndrome
- CHARGE Syndrome, Familial
- CHARGE Syndromes, Familial
- Familial CHARGE Syndromes
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Below are MeSH descriptors whose meaning is more general than "CHARGE Syndrome".
Below are MeSH descriptors whose meaning is more specific than "CHARGE Syndrome".
This graph shows the total number of publications written about "CHARGE Syndrome" by people in this website by year, and whether "CHARGE 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 |
|---|
| 2013 | 1 | 0 | 1 |
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Below are the most recent publications written about "CHARGE Syndrome" by people in Profiles.
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Balow SA, Pierce LX, Zentner GE, Conrad PA, Davis S, Sabaawy HE, McDermott BM, Scacheri PC. Knockdown of fbxl10/kdm2bb rescues chd7 morphant phenotype in a zebrafish model of CHARGE syndrome. Dev Biol. 2013 Oct 01; 382(1):57-69.
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