Search Ontology:
Human Disease

multiple epiphyseal dysplasia 4

Term ID
DOID:0070300
Synonyms
  • EDM4
  • MED4
  • multiple epiphyseal dysplasia with bilateral patellae
  • multiple epiphyseal dysplasia with clubfoot
  • Polyepiphyseal dysplasia type 4
  • rMED
(all 6)
Definition
A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32. https://www.ncbi.nlm.nih.gov/pubmed/10465113
References
(all 6)
Ontology
Human Disease   ( DOID:0070300 )
Relationships
Other Pages
Genes Involved
Human Gene Zebrafish Ortholog OMIM Term Disease OMIM Phenotype ID
SLC26A2Epiphyseal dysplasia, multiple, 4multiple epiphyseal dysplasia 4226900
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Zebrafish Models
No data available