| Metadata | |
|---|---|
| ID | DOID:0111723 |
| PURL | http://purl.obolibrary.org/obo/DOID_0111723 Copy |
| Name | Jacobsen Syndrome |
| Definition | A chromosomal deletion syndrome that is characterized by growth retardation, psychomotor retardation, distinctive facial features, skeletal abnormalities, and isoimmune thrombocytopenia that has_material_basis_in deletion of terminal chromosome 11q. https://www.ncbi.nlm.nih.gov/pubmed/4134631 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
chromosome 11q deletion syndrome [EXACT] Jacobsen distal 11q deletion syndrome [EXACT] partial 11q monosomy syndrome [EXACT] |
| Parent Relationships |