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
External Links
Disease Ontology
DOID:12721
Mondo Disease Ontology
MeSH
UMLS
ORDO
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 1 - 10 of 39 in total
Gene ID Gene Symbol Description Source
43 ACHE acetylcholinesterase (Yt blood group)
176 ACAN aggrecan
224 ALDH3A2 aldehyde dehydrogenase 3 family member A2
231 AKR1B1 aldo-keto reductase family 1 member B
249 ALPL alkaline phosphatase, biomineralization associated
952 CD38 CD38 molecule
1298 COL9A2 collagen type IX alpha 2 chain
1555 CYP2B6 cytochrome P450 family 2 subfamily B member 6
1557 CYP2C19 cytochrome P450 family 2 subfamily C member 19
1559 CYP2C9 cytochrome P450 family 2 subfamily C member 9
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: August 19, 2024