Metadata | |
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ID | DOID:0111723 |
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 |