Term Name: multiple epiphyseal dysplasia 4
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.
Ontology: Human Disease [DOID:0070300]   ( DOID:0070300 )

Relationships
is a type of: autosomal recessive disease multiple epiphyseal dysplasia