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DO Term : chromosome 15q13.3 microdeletion syndrome [DOID:0060394] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15.
  • synonyms:
  • OMIM:612001,
  • 612001,
  • ICD10CM:Q93.5,
  • 15q13.3 microdeletion syndrome,
  • ORDO:199318,
  • MESH:C567439,
  • GARD:10296
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Ontology Term --> Direct parents