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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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;   Chédiak-Higashi syndrome;   neutropenia and hyperlymphocytosis with large granular lymphocytes;   oculocutaneous albinism with leukocyte defect
 primary_id: MESH:D002609
 alt_id: MESH:C531649;   OMIM:214500
 xref: GARD:6035;   ICD10CM:E70.330;   NCI:C2941;   ORDO:167
For additional species annotation, visit the Alliance of Genome Resources.


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Chediak-Higashi syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lyst lysosomal trafficking regulator IAGP
ISO
ClinVar Annotator: match by OMIM:214500
ClinVar Annotator: match by term: Chediak-Higashi Syndrome
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
OMIM
ClinVar
PMID:8717042, PMID:8751863, PMID:8896560, PMID:9215679, PMID:9215680, PMID:10482950, PMID:10648412, PMID:11857544, PMID:17554367, PMID:18485661, PMID:21878672, PMID:24033266, PMID:24072239, PMID:24112114, PMID:25047945, PMID:25741868, PMID:26597256, PMID:27872624, PMID:28145517, PMID:28193763, PMID:28458669, PMID:28492532, PMID:30311386, PMID:30383631, PMID:30899265, PMID:10384041 RGD:633300 NCBI chr17:90,323,055...90,522,091 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      oculocutaneous albinism 35
        Syndromic Oculocutaneous Albinism 24
          Chediak-Higashi syndrome 1
            aleutian mink disease 0
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          skin disease 2749
            pigmentation disease 243
              Hypopigmentation 102
                Albinism 47
                  oculocutaneous albinism 35
                    Syndromic Oculocutaneous Albinism 24
                      Chediak-Higashi syndrome 1
                        aleutian mink disease 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.