MeSH Browser

MeSH Supplementary: Leri-Weil syndrome
Unique ID: C537119
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537119
Entry Term(s): Dyschondrosteosis; Leri-weill dyschondrosteosis; Léri-Weill Dyschondrosteosis
Registry Number: 0
Heading Mapped to: *Growth Disorders; *Osteochondrodysplasias
Frequency: 71
Note: An inherited skeletal dysplasia characterized by disproportionate short stature with predominantly mesomelic limb shortening and Madelung deformity of the arm. The disorder shows a dominant pedigree pattern with females more often affected in males. It has been mapped to variations in the SHOX gene that resides in the pseudoautosomal region of the X and Y chromosomes. OMIM: 312865
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Concept UI: M0531580
Registry Number: 0
Terms: Leri-Weil syndrome Preferred Term
Term UI T741511
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Leri-weill dyschondrosteosis
Term UI T741514
Date02/24/2009
LexicalTag NON
ThesaurusID; Léri-Weill Dyschondrosteosis
Term UI T841899
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Dyschondrosteosis
Term UI T741512
Date02/24/2009
LexicalTag NON
ThesaurusID

Leri-Weil syndrome MeSH Supplementary Concept Data 2023