Term Name: | chromosome 17q11.2 deletion syndrome |
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Synonyms: | 17q11 microdeletion syndrome, neurofibromatosis type 1 microdeletion syndrome, NF1 microdeletion syndrome, Van Asperen syndrome |
Definition: | A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene. |
Ontology: | Human Disease [DOID:0060403] ( DOID:0060403 ) |