MeSH Browser

MeSH Supplementary: Holt-Oram syndrome
Unique ID: C535326
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535326
Entry Term(s): Atrio-Digital Syndrome; Atriodigital dysplasia; Cardiac-Limb Syndrome; Cervico-Oculo-Acoustic Syndrome; Heart-Hand Syndrome, Type 1; Heart-hand syndrome; Ventriculo-Radial Syndrome; Wildervanck syndrome
Heading Mapped to: *Abnormalities, Multiple; *Heart Defects, Congenital; *Heart Septal Defects, Atrial; *Lower Extremity Deformities, Congenital; *Upper Extremity Deformities, Congenital
Frequency: 103
Note: A genetic condition with autosomal dominant inheritance that is characterized by skeletal abnormalities of the upper limbs, particularly thumb and wrist anomalies; additional skeletal abnormalities may also be present. About 75% of those affected have heart abnormalities, notably ATRIAL SEPTAL DEFECTS and cardiac conduction defects. Mutations in the TBX5 gene have been identified. OMIM: 142900
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Concept UI: M0529787
Terms: Holt-Oram syndrome Preferred Term
Term UI T735704
Date02/24/2009
LexicalTag NON
ThesaurusID; Heart-hand syndrome
Term UI T735705
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Atriodigital dysplasia
Term UI T735707
Date02/24/2009
LexicalTag NON
ThesaurusID; Atrio-Digital Syndrome
Term UI T841672
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Cardiac-Limb Syndrome
Term UI T841673
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Heart-Hand Syndrome, Type 1
Term UI T841674
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Ventriculo-Radial Syndrome
Term UI T841675
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014)

Holt-Oram syndrome MeSH Supplementary Concept Data 2024