multiple epiphyseal dysplasia 4

Summary

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: slc26a2, slc26a2.2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009189 - multiple epiphyseal dysplasia type 4

MONDO:0009189 - multiple epiphyseal dysplasia type 4

MIM:

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

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

Parent(s): autosomal recessive disease (is_a), multiple epiphyseal dysplasia (is_a)