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Summary Literature (0)
DOID:0112150 - X-linked spondyloepimetaphyseal dysplasia

Disease Ontology Definition:A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28.

Synonyms: SEMDX, SEMD X-linked

Xenbase Genes : bgn


MIM:
MIM:300106 - SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED; SEMDX

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): spondyloepimetaphyseal dysplasia (is_a), X-linked recessive disease (is_a)