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Summary Literature (0)
DOID:0070300 - multiple epiphyseal dysplasia 4

Disease Ontology Definition:A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32.

Synonyms: EDM4, MED4, multiple epiphyseal dysplasia with bilateral patellae, multiple epiphyseal dysplasia with clubfoot, Polyepiphyseal dysplasia type 4, rMED

Xenbase Genes : slc26a2, slc26a2.2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009189 - multiple epiphyseal dysplasia type 4

MIM:
MIM:226900 - EPIPHYSEAL DYSPLASIA, MULTIPLE, 4; EDM4

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), multiple epiphyseal dysplasia (is_a)