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Spondyloepiphyseal dysplasia, Omani type MeSH Supplementary Concept Data 2024


MeSH Supplementary
Spondyloepiphyseal dysplasia, Omani type
Unique ID
C535789
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C535789
Entry Term(s)
CHST3-Related Skeletal Dysplasia
Chondrodysplasia with Multiple Dislocations
Humero-Spinal Dysostosis
Humero-spinal dysostosis with congenital heart disease
Humerospinal dysostosis
Kozlowski Celermajer Tink syndrome
Omani type of spondyloepiphyseal dysplasia
SED with Luxations, CHST3 Type
SED, Omani Type
Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations
Spondyloepiphyseal Dysplasia, CHST3-Related
Registry Number
0
Heading Mapped to
*Osteochondrodysplasias
Frequency
4
Note
mutations in CHST3
Date of Entry
2010/08/25
Revision Date
2013/10/24
Spondyloepiphyseal dysplasia, Omani type Preferred
Kozlowski Celermajer Tink syndrome Related
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