multiple epiphyseal dysplasia

Summary
Synonym
  • polyepiphyseal dysplasia
Definition
An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain.
Super Class
osteochondrodysplasia
Disease Ontology
DOID:12721
Mondo Disease Ontology
MeSH
UMLS
ORDO
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1311 COMP cartilage oligomeric matrix protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
12845 Comp cartilage oligomeric matrix protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
25304 Comp cartilage oligomeric matrix protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
33941 Tsp Thrombospondin

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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