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DO Term : chromosome 16p11.2 deletion syndrome, 593-kb [DOID:0070515] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb).
  • synonyms:
  • ORDO:261197,
  • Proximal 16p11.2 microdeletion syndrome,
  • UMLS_CUI:C3150154,
  • OMIM:611913,
  • GARD:10740,
  • 611913,
  • UMLS_CUI:C4273657
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Disease

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Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents