OBO ID: DOID:0070300
Term Name: multiple epiphyseal dysplasia 4 Search Ontology:
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
is a type of:
OTHER multiple epiphyseal dysplasia 4 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC26A2 Epiphyseal dysplasia, multiple, 4 226900
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None