Search Ontology:
Human Disease

Jacobsen Syndrome

Term ID
DOID:0111723
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. https://www.ncbi.nlm.nih.gov/pubmed/4134631
References
Ontology
Human Disease   ( DOID:0111723 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models