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Summary Literature (0)
DOID:14789 - spondyloepiphyseal dysplasia congenita

Disease Ontology 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.

Synonyms: Late Spondyloepiphyseal Dysplasia, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT

Xenbase Genes : col2a1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008471 - spondyloepiphyseal dysplasia congenita

MIM:
MIM:183900 - SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), spondyloepimetaphyseal dysplasia (is_a), spondyloepiphyseal dysplasia (is_a)