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DO Term : chromosome 17p13.3 duplication syndrome [DOID:0060432] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A chromosomal duplication syndrome that has_material_basis_in the PAFAH1B1 and/or the YWHAE gene on chromosome 17p13.3.
  • synonyms:
  • ICD10CM:Q92.3,
  • 17p13.3 microduplication syndrome,
  • OMIM:613215,
  • trisomy 17p13.3,
  • chromosome 17p13.3 centromeric duplication syndrome,
  • ORDO:217385,
  • 613215,
  • 17p13.3 duplication syndrome,
  • MESH:C567705
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents