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 31 - 39 of 39 in total
Gene ID Gene Symbol Description Source
23169 SLC35D1 solute carrier family 35 member D1
23443 SLC35A3 solute carrier family 35 member A3
23583 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
26229 B3GAT3 beta-1,3-glucuronyltransferase 3
54187 NANS N-acetylneuraminate synthase
64131 XYLT1 xylosyltransferase 1
79158 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
79796 ALG9 ALG9 alpha-1,2-mannosyltransferase
100507436 MICA MHC class I polypeptide-related sequence A
Displaying 1 entry
Gene ID Gene Symbol Description Source
33941 Tsp Thrombospondin

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Supported by JST NBDC Grant Number JPMJND2204

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Last updated: August 19, 2024