| Metadata | |
|---|---|
| ID | DOID:0070035 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070035 Copy |
| Name | autosomal dominant intellectual developmental disorder 5 |
| Definition | An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SYNGAP1 gene on chromosome 6p21.32. https://www.ncbi.nlm.nih.gov/pubmed/19196676 |
| Xrefs | |
| Synonyms |
autosomal dominant mental retardation 5 [EXACT] autosomal dominant non-syndromic intellectual disability 5 [EXACT] MRD5 [EXACT] |
| Parent Relationships |