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DOID:0080362 - X-linked spondyloepiphyseal dysplasia tarda
Disease Ontology Definition:A spondyloepiphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has_material_basis_in mutation in the SEDL gene on chromosome Xp22.
Synonyms:
Echinobase Genes :
MIM:313400 - spondyloepiphyseal dysplasia tarda, x-linked; sedt |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
spinal disease (is_a)