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Leri-Weil syndrome MeSH Supplementary Concept Data 2024


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
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
Leri-Weil syndrome Preferred
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