|
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: SEMD X-linked, SEMDX,
Xenbase Genes : bgn
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)