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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • anauxetic dysplasia 2
described by
id
  • DOID:0080962
database_cross_reference
  • OMIM:617396
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A spondyloepimetaphyseal dysplasia that is has_material_basis_in homozygous or compound heterozygous mutation in the POP1 gene on chromosome 8q22.
is topic of
is annotatedSource of
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