MeSH Browser

MeSH Supplementary: Chromosome 18 deletion syndrome
Unique ID: C536580
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536580
Entry Term(s): 18q syndrome; 18q- Syndrome; Chromosome 18, monosomy 18Q; Chromosome 18q Deletion Syndrome; Chromosome 18q syndrome; Chromosome 18q- Syndrome; Monosomy 18q syndrome; Monosomy 18q, deletion 18q
Heading Mapped to: *Chromosome Deletion; Chromosomes, Human, Pair 18; *Chromosome Disorders
Frequency: 48
Note: Deletion of chromosome 18q results in highly variable phenotypes including INTELLECTUAL DISABILITY; HYPOTONIA; HEARING LOSS, short stature, and foot deformities. Tapered digits and wide mouth may also occur. Inheritance of this deletion is autosomal dominant. OMIM: 601808
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Concept UI: M0531041
Terms: Chromosome 18 deletion syndrome Preferred Term
Term UI T739786
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Chromosome 18q Deletion Syndrome
Term UI T801964
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Chromosome 18q- Syndrome
Term UI T801965
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); 18q- Syndrome
Term UI T801966
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013)

Chromosome 18 deletion syndrome MeSH Supplementary Concept Data 2024