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
External Links
Disease Ontology
DOID:0060247
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
1109 AKR1C4 aldo-keto reductase family 1 member C4
1462 VCAN versican
5728 PTEN phosphatase and tensin homolog
9365 KL klotho

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024