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 21 - 30 of 39 in total
Gene ID Gene Symbol Description Source
5238 PGM3 phosphoglucomutase 3
5476 CTSA cathepsin A
5728 PTEN phosphatase and tensin homolog
6448 SGSH N-sulfoglucosamine sulfohydrolase
8534 CHST1 carbohydrate sulfotransferase 1
9060 PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
9394 HS6ST1 heparan sulfate 6-O-sulfotransferase 1
9469 CHST3 carbohydrate sulfotransferase 3
10682 EBP EBP cholestenol delta-isomerase
11285 B4GALT7 beta-1,4-galactosyltransferase 7
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