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Namespace Prefixes

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Statements

Subject Item

_:vb50944348

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n6:ECO_0007645

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n6:IAO_0000115

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A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21.

obo:hasDbXref

url:https://www.ncbi.nlm.nih.gov/pubmed/12491225 url:https://www.ncbi.nlm.nih.gov/pubmed/21032395