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DO Term : Jacobsen Syndrome [DOID:0111723] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • Jacobsen distal 11q deletion syndrome,
  • chromosome 11q deletion syndrome,
  • partial 11q monosomy syndrome,
  • ORDO:2308,
  • MESH:D054868,
  • GARD:307,
  • OMIM:147791,
  • 147791
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents