FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Jacobsen Syndrome ID (Ontology) DOID:0111723 (Human Disease)
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.
Also Known As "chromosome 11q deletion syndrome" ; "Jacobsen distal 11q deletion syndrome" ; "partial 11q monosomy syndrome"
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       2
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 Alleles Genes
 Jacobsen Syndrome       2      1
 model of | Jacobsen Syndrome       2       --
Spanning Tree (Parents/Children)
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  chromosomal disease
   |__chromosomal deletion syndrome
       |__Jacobsen Syndrome  3 rec.
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Is a chromosomal deletion syndrome
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Synonyms
  • "chromosome 11q deletion syndrome" EXACT
    "Jacobsen distal 11q deletion syndrome" EXACT
    "partial 11q monosomy syndrome" EXACT
Secondary IDs
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GARD:307
MESH:D054868
MIM:147791
ORDO:2308