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13q deletion syndrome MeSH Supplementary Concept Data 2022


MeSH Supplementary
13q deletion syndrome
Unique ID
C535484
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C535484
Entry Term(s)
Chromosome 13q deletion
Chromosome 13q deletion syndrome
Chromosome 13q monosomy
Chromosome 13q syndrome
Deletion 13q
Deletion 13q syndrome
Monosomy 13q
Monosomy 13q syndrome
Orbeli syndrome
Orbeli's syndrome
Registry Number
0
Heading Mapped to
*Chromosome Deletion
Chromosomes, Human, Pair 13
*Chromosome Disorders
Frequency
80
Note
Condition caused by loss of the q arm of chromosome 13, resulting in RETINOBLASTOMA, varying degrees of intellectual disability, and characteristic FACIES defined by a high forehead, prominent lips, and anteverted earlobes. OMIM: 613884
Date of Entry
2010/06/25
Revision Date
2016/08/01
13q deletion syndrome Preferred
Chromosome 13q syndrome Related
Chromosome 13q deletion Related
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