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ID | DOID:5684 |
Name | spondyloepimetaphyseal dysplasia, Sponastrime type |
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. http://omim.org/entry/271510, https://www.ncbi.nlm.nih.gov/pubmed/10797420 |
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Synonyms |
sponastrime dysplasia [EXACT] Spondylar and nasal Alterations-Striated Metaphyses syndrome [EXACT] |
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