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Jacobsen Syndrome
Summary
- Synonym
-
- Jacobsen distal 11q deletion syndrome
- chromosome 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.
- Super Class
- chromosomal deletion syndrome
External Links
- Disease Ontology
- DOID:0111723
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
