Term Name: | Jacobsen Syndrome |
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Synonyms: | chromosome 11q deletion syndrome, Jacobsen distal 11q deletion syndrome, partial 11q monosomy 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. |
Ontology: | Human Disease [DOID:0111723] ( DOID:0111723 ) |