Disease

chromosome 17q11.2 deletion syndrome

Name: chromosome 17q11.2 deletion syndrome
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0060403 chromosome 17q11.2 deletion syndrome A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene. Van Asperen syndrome NF1 microdeletion syndrome 17q11 microdeletion syndrome neurofibromatosis type 1 microdeletion syndrome

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
neurofibromatosis type 1 microdeletion syndrome

Cross References

ICD10CM:Q85.0
MESH:C563524

Parent Terms

autosomal dominant disease
chromosomal deletion syndrome

Child Terms

None

Sources of Associations

RGD
MGI
ZFIN
FB
WB
SGD

Associated Genes

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Associated Alleles

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Associated Models

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