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ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary neutrophilia
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Accession:DOID:0090120 term browser browse the term
Definition:A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has_material_basis_in heterozygous mutation in the colony stimulating factor 3 receptor (CSF3R) gene on chromosome 1p34. (DO)
Synonyms:primary_id: MESH:C563010
 alt_id: OMIM:162830;   RDO:0012473
 xref: ORDO:279943
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hereditary neutrophilia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Csf3r colony stimulating factor 3 receptor JBrowse link 5 144,031,353 144,051,966 RGD:8554872
RGD:13592920

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Path 1
Term Annotations click to browse term
  disease 15984
    disease of anatomical entity 15262
      hematopoietic system disease 1594
        leukocyte disease 531
          hereditary neutrophilia 1
Path 2
Term Annotations click to browse term
  disease 15984
    Developmental Diseases 9281
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8095
        genetic disease 7613
          monogenic disease 5382
            autosomal genetic disease 4348
              autosomal dominant disease 2713
                hereditary neutrophilia 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.