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Disease Ontology Browser
spondyloepiphyseal dysplasia congenita (DOID:14789)
Alliance: disease page
Synonyms: Late Spondyloepiphyseal Dysplasia
Alt IDs: OMIM:183900, DOID:0080025, MESH:C535788
Definition: A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11.

Disease References using Mouse Models (7)
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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03/25/2025
MGI 6.24 		The Jackson Laboratory