X-linked spondyloepimetaphyseal dysplasia Disease Ontology Browser

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Disease Ontology Browser

X-linked spondyloepimetaphyseal dysplasia (DOID:0112150)
Alliance: disease page
Synonyms: SEMD X-linked; SEMDX
Alt IDs: OMIM:300106, MESH:C564714, NCI:C188996, ORDO:93349, UMLS_CUI:C1848097
Definition: A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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