Search Ontology:
Human Disease
Jacobsen Syndrome
- Term ID
- DOID:0111723
- Synonyms
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- 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. https://www.ncbi.nlm.nih.gov/pubmed/4134631
- References
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- GARD:307
- MESH:D054868
- MIM:147791
- ORDO:2308
- Ontology
- Human Disease ( DOID:0111723 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models