spondylometaphyseal dysplasia Algerian type Disease Ontology Browser

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spondylometaphyseal dysplasia Algerian type (DOID:0112296)
Alliance: disease page
Synonyms: spondylometaphyseal dysplasia with severe genu valgum; spondylometaphyseal dysplasia, Schmidt type
Alt IDs: OMIM:184253, MESH:C535794, ORDO:93316, UMLS_CUI:C1866688
Definition: A spondylometaphyseal dysplasia characterized by a short trunk and severe genu valgum and that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.

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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