multiple epiphyseal dysplasia 5

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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, bilateral hereditary microepiphyseal dysplasia, EDM5, multiple epiphyseal dysplasia MATN3-related

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

: matn3

Other Model Organisms: Alliance, 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)