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Echinobase
Summary Literature (0)
DOID:0070299 - multiple epiphyseal dysplasia 5

Disease Ontology Definition:A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24.

Synonyms: BHMED, EDM5, bilateral hereditary microepiphyseal dysplasia, multiple epiphyseal dysplasia MATN3-related,

Echinobase Genes :


OMIM:
MIM:607078 - epiphyseal dysplasia, multiple, 5; edm5

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

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