| 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 | |
| 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 | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |