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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 syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy; it is that has_material_basis_in mutations in the CHS1 gene. (DO)
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: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 16091
    syndrome 7036
      oculocutaneous albinism 34
        Syndromic Oculocutaneous Albinism 24
          Chediak-Higashi syndrome 1
            aleutian mink disease 0
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        sensory system disease 5176
          skin disease 2714
            pigmentation disease 218
              Hypopigmentation 102
                Albinism 47
                  oculocutaneous albinism 34
                    Syndromic Oculocutaneous Albinism 24
                      Chediak-Higashi syndrome 1
                        aleutian mink disease 0
paths to the root