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Summary Literature (0)
DOID:5684 - spondyloepimetaphyseal dysplasia, Sponastrime type

Disease Ontology Definition:A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has_material_basis_in autosomal recessive inheritance.

Synonyms: sponastrime dysplasia, Spondylar and nasal Alterations-Striated Metaphyses syndrome

Xenbase Genes : tonsl

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010068 - spondyloepimetaphyseal dysplasia, sponastrime type


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

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