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DO Term : chromosome 17q11.2 deletion syndrome [DOID:0060403] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene.
  • synonyms:
  • 17q11 microdeletion syndrome,
  • ICD10CM:Q85.0,
  • NF1 microdeletion syndrome,
  • ORDO:97685,
  • MESH:C563524,
  • 613675,
  • Van Asperen syndrome,
  • OMIM:613675,
  • neurofibromatosis type 1 microdeletion syndrome
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Disease

Diseases --> Human genes

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Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents





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