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ONTOLOGY REPORT - ANNOTATIONS


Term:Jacobsen Distal 11q Deletion Syndrome
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Accession:DOID:9006726 term browser browse the term
Definition:A clinically recognized malformation condition caused by a distal 11q deletion. The features of the syndrome are growth retardation, psychomotor retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, and hammertoes. Most patients have a THROMBOCYTOPENIA and platelet dysfunction known also as Paris-Trousseau type thrombocytopenia.
Synonyms:exact_synonym: 11q Deletion Syndrome;   11q Terminal Deletion Disorder;   11q deletion disorder;   11q23 deletion disorder;   Chromosome 11q Deletion Syndrome;   JBS;   Jacobsen Syndrome;   Jacobsen Thrombocytopenia;   Paris Trousseau Syndrome;   Paris Trousseau thrombocytopenia;   partial 11q monosomy syndrome
 primary_id: MESH:D054868
 alt_id: OMIM:147791;   RDO:0004545
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Jacobsen Distal 11q Deletion Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fli1 Fli-1 proto-oncogene, ETS transcription factor JBrowse link 8 33,541,932 33,661,111 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15503
    syndrome 5771
      chromosomal deletion syndrome 507
        Jacobsen Distal 11q Deletion Syndrome 1
          Thrombocytopenia Paris-Trousseau Type 0
Path 2
Term Annotations click to browse term
  disease 15503
    Pathological Conditions, Signs and Symptoms 8038
      Pathologic Processes 5204
        Chromosome Aberrations 752
          Aneuploidy 655
            Monosomy 560
              Chromosome Deletion 560
                chromosomal deletion syndrome 507
                  Jacobsen Distal 11q Deletion Syndrome 1
                    Thrombocytopenia Paris-Trousseau Type 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.