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MIRAGE
spondyloepimetaphyseal dysplasia

Summary
Definition
An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis.
Super Class
osteochondrodysplasia spinal disease
Disease Ontology
DOID:0080027
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
12824 Col2a1 collagen, type II, alpha 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P28481 Collagen alpha-1(II) chain
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Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: April 7, 2025