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About: chromosome 16p11.2 duplication syndrome     Goto   Sponge   NotDistinct   Permalink

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

AttributesValues
type
subClassOf
label
  • chromosome 16p11.2 duplication syndrome
described by
id
  • DOID:0060430
created_by
  • elvira
creation_date
  • 2015-10-02T15:19:40Z
database_cross_reference
  • ICD10CM:Q92.3
  • OMIM:614671
  • ORDO:370079
has_exact_synonym
  • proximal 16p11.2 microduplication syndrome (en)
  • proximal dup(16)(p11.2) (en)
  • proximal trisomy 16p11.2 (en)
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language.
is topic of
is annotatedSource of
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