multiple epiphyseal dysplasia 4

Summary
Synonym
  • EDM4
  • MED4
  • Polyepiphyseal dysplasia type 4
  • multiple epiphyseal dysplasia with bilateral patellae
  • multiple epiphyseal dysplasia with clubfoot
  • rMED
Definition
A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32.
Super Class
autosomal recessive disease multiple epiphyseal dysplasia
External Links
Disease Ontology
DOID:0070300
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1836 SLC26A2 solute carrier family 26 member 2
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P50443 Sulfate transporter
The Human Phenotype Ontology
Displaying entries 51 - 57 of 57 in total
HPO ID HPO Term
HP:0100864 Short femoral neck
HP:0008802 Hypoplasia of the femoral head
HP:0004322 Short stature
HP:0000007 Autosomal recessive inheritance
HP:0002656 Epiphyseal dysplasia
HP:0006376 Limited elbow flexion
HP:0003370 Flat capital femoral epiphysis
Displaying 1 entry
Gene ID Gene Symbol Description
1836 SLC26A2 solute carrier family 26 member 2

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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