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

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AttributesValues
type
subClassOf
label
  • chromosome 16p11.2 deletion syndrome
described by
id
  • DOID:0060398
created_by
  • elvira
creation_date
  • 2015-09-28T16:35:34Z
database_cross_reference
  • ICD10CM:Q93.5
  • OMIM:613444
  • ORDO:261222
has_exact_synonym
  • distal 16p11.2 microdeletion syndrome (en)
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 encompassing approximately 9 genes, including the SH2B1 gene.
is topic of
is annotatedSource of
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