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
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
Ontology
Human Disease   ( DOID:0070300 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.