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About: chromosome 1q21.1 deletion syndrome     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
type
subClassOf
label
  • chromosome 1q21.1 deletion syndrome
described by
id
  • DOID:0060411
created_by
  • elvira
creation_date
  • 2015-09-28T17:17:38Z
database_cross_reference
  • GARD:10813
  • ICD10CM:Q93.5
  • OMIM:612474
  • ORDO:250989
has_exact_synonym
  • 1q21.1 microdeletion syndrome (en)
has_obo_namespace
  • disease_ontology
has_related_synonym
  • monosomy 1q21.1 (en)
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • A chromosomal deletion syndrome that has_material_basis_in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems.
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is annotatedSource of
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