chromosome 17q11.2 deletion syndrome

Summary

DOID:0060403 - chromosome 17q11.2 deletion syndrome

Disease Ontology Definition: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, NF1 microdeletion syndrome, Van Asperen syndrome, neurofibromatosis type 1 microdeletion syndrome,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

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Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013357 - chromosome 17q11.2 deletion syndrome, 1.4Mb

MONDO:0013357 - chromosome 17q11.2 deletion syndrome, 1.4Mb

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), chromosomal deletion syndrome (is_a)