spondyloepimetaphyseal dysplasia

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Summary

Literature (0)

DOID:0080027 - spondyloepimetaphyseal dysplasia

Disease Ontology Definition:An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis.

Synonyms:

Echinobase 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

: smarcal1, 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), spinal disease (is_a)