spondyloepiphyseal dysplasia

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Summary

Literature (0)

DOID:0112280 - spondyloepiphyseal dysplasia

Disease Ontology Definition:An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs.

Synonyms: SED

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: acan, chst3, trpv4, col2a1

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): osteochondrodysplasia (is_a)