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DO Term : spondyloepimetaphyseal dysplasia, Sponastrime type [DOID:5684] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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,
  • NCI:C92206,
  • 271510,
  • OMIM:271510,
  • Spondylar and nasal Alterations-Striated Metaphyses syndrome,
  • UMLS_CUI:C0920349
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