Term Name: | spondyloepimetaphyseal dysplasia, Sponastrime type |
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Synonyms: | sponastrime dysplasia, Spondylar and nasal Alterations-Striated Metaphyses syndrome |
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. |
Ontology: | Human Disease [DOID:5684] ( DOID:5684 ) |