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| Term | chromosome 17q11.2 deletion syndrome | ID (Ontology) | DOID:0060403 (Human Disease) |
| Definition | A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene. | ||
| Also Known As | "17q11 microdeletion syndrome" ; "neurofibromatosis type 1 microdeletion syndrome" ; "NF1 microdeletion syndrome" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease_____ chromosomal disease | |__chromosomal deletion syndrome__| chromosome 17q11.2 deletion syndrome |
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| Is a |
autosomal dominant disease chromosomal deletion syndrome |
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External Crossreferences & Linkouts
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ICD10CM:Q85.0 MESH:C563524 MIM:613675 ORDO:97685 |
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