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Standards Ontologies Notations
Smith-McCort dysplasia

Summary
Definition
A Dyggve-Melchior-Clausen disease that is characterized by short limbs and a short trunk with a barrel-shaped chest.
Super Class
Dyggve-Melchior-Clausen disease
Disease Ontology
DOID:0060247
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
51762 RAB8B RAB8B, member RAS oncogene family
54808 DYM dymeclin
Displaying 1 entry
Gene ID Gene Symbol Description Source
235442 Rab8b RAB8B, member RAS oncogene family
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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024