chromosome 17q11.2 deletion syndrome

Term ID

DOID:0060403

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. https://pubmed.ncbi.nlm.nih.gov/10631140/

References

• ICD10CM:Q85.0
• MESH:C563524
• OMIM:613675
• ORDO:97685

Ontology

Human Disease   ( DOID:0060403 )