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
External Links
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
23417 MLYCD malonyl-CoA decarboxylase
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O95822 Malonyl-CoA decarboxylase, mitochondrial

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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