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DO Term : chromosome 1q21.1 deletion syndrome [DOID:0060411] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • 1q21.1 microdeletion syndrome,
  • GARD:10813,
  • ORDO:250989,
  • ICD10CM:Q93.5,
  • OMIM:612474,
  • monosomy 1q21.1,
  • 612474
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