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ONTOLOGY REPORT - ANNOTATIONS


Term:Chediak-Higashi syndrome
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Accession:DOID:2935 term browser browse the term
Definition:A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle.
Synonyms:exact_synonym: CHS;   Chediak - Steinbrinck anomaly;   Chediak-Steinbrinck-Higashi syndrome;   neutropenia and hyperlymphocytosis with large granular lymphocytes;   oculocutaneous albinism with leukocyte defect
 primary_id: MESH:D002609
 alt_id: MESH:C531649;   OMIM:214500;   RDO:0000075;   RDO:0000076
 xref: GARD:6035;   ICD10CM:D72.0;   ICD10CM:E70.330;   NCI:C2941;   ORDO:167
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Chediak-Higashi syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lyst lysosomal trafficking regulator JBrowse link 17 90,323,055 90,522,091 RGD:633300
RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15603
    syndrome 5215
      primary immunodeficiency disease 957
        phagocyte bactericidal dysfunction 23
          Chediak-Higashi syndrome 2
            aleutian mink disease 0
Path 2
Term Annotations click to browse term
  disease 15603
    Developmental Diseases 8772
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7555
        genetic disease 7051
          monogenic disease 4686
            autosomal genetic disease 3645
              autosomal recessive disease 2078
                Chediak-Higashi syndrome 2
                  aleutian mink disease 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.