ZFIN Human Disease: chromosome 17q11.2 deletion syndrome

OBO ID: DOID:0060403

Term Name:	chromosome 17q11.2 deletion syndrome		Search Ontology:
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 )

Relationships

is a type of:	autosomal dominant disease chromosomal deletion syndrome autosomal dominant disease chromosomal deletion syndrome Show first 5 Terms

OTHER chromosome 17q11.2 deletion syndrome PAGES

Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None