Schmid metaphyseal chondrodysplasia

Summary
Synonym
  • Japanese type spondylometaphyseal dysplasia
  • Schmid type metaphyseal dysplasia
Definition
A metaphyseal dysplasia that results_in dwarfism and bowed legs.
Super Class
metaphyseal dysplasia
Disease Ontology
DOID:0080021
Mondo Disease Ontology
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1300 COL10A1 collagen type X alpha 1 chain

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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: December 9, 2024