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Metadata
ID DOID:0060403
Name chromosome 17q11.2 deletion syndrome
Definition A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene.
https://pubmed.ncbi.nlm.nih.gov/10631140/
Xrefs

ICD10CM:Q85.0

MESH:C563524

OMIM:613675

ORDO:97685

Subsets

DO_rare_slim

Synonyms

17q11 microdeletion syndrome [EXACT]

neurofibromatosis type 1 microdeletion syndrome [EXACT]

NF1 microdeletion syndrome [EXACT]

Van Asperen syndrome [EXACT]

Parent Relationships

is_a chromosomal deletion syndrome

is_a autosomal dominant disease

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