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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 and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST) on chromosome 1q42. (DO)
Synonyms:exact_synonym: CHS;   Chediak - Steinbrinck anomaly;   Chediak-Steinbrinck-Higashi syndrome;   Chédiak-Higashi syndrome;   LYST-RELATED CONDITION;   neutropenia and hyperlymphocytosis with large granular lymphocytes;   oculocutaneous albinism with leukocyte defect
 narrow_synonym: AUTOINFLAMMATORY SYNDROME
 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.


show annotations for term's descendants           Sort by:
Chediak-Higashi syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA2 adenosine deaminase 2 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome		 ClinVar PMID:24552284 PMID:24552285 PMID:24737293 PMID:25075844 PMID:25075845 More... NCBI chr 5:69,526,413...69,554,640
Ensembl chr 5:69,526,435...69,554,661 		JBrowse link
G AP3B1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:31898847 NCBI chr 2:86,875,922...87,142,722
Ensembl chr 2:86,873,290...87,142,768 		JBrowse link
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr14:55,749,409...55,818,738
Ensembl chr14:55,749,473...55,818,004 		JBrowse link
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:126,168,944...126,184,813
Ensembl chr 1:126,165,994...126,184,858 		JBrowse link
G CARD14 caspase recruitment domain family member 14 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:9536098 PMID:17576681 PMID:22521419 PMID:24033266 PMID:24999592 More... NCBI chr12:2,248,337...2,275,015
Ensembl chr12:2,255,038...2,271,588 		JBrowse link
G CD27 CD27 molecule ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:64,197,594...64,202,236
Ensembl chr 5:64,196,994...64,202,613 		JBrowse link
G ELANE elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome		 ClinVar PMID:10581030 PMID:11675333 PMID:19036076 PMID:23463630 PMID:25427142 More... NCBI chr 2:77,513,769...77,516,118
Ensembl chr 2:77,509,344...77,516,027 		JBrowse link
G GNG4 G protein subunit gamma 4 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr14:55,652,743...55,725,085
Ensembl chr14:55,653,034...55,726,373 		JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:12837270 PMID:16519819 PMID:19729864 PMID:20842532 PMID:21279638 More...
G ITK IL2 inducible T cell kinase ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:9536098 PMID:17576681 PMID:22289921 PMID:25741868 PMID:28492532 NCBI chr16:66,010,766...66,082,263
Ensembl chr16:66,010,772...66,082,185 		JBrowse link
G LPIN2 lipin 2 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome		 ClinVar PMID:2809904 PMID:9536098 PMID:10969284 PMID:15994876 PMID:17576681 More... NCBI chr 6:103,625,725...103,728,151
Ensembl chr 6:103,687,743...103,728,148 		JBrowse link
G LYST lysosomal trafficking regulator ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome | ClinVar Annotator: match by term: LYST-related condition OMIM
ClinVar		 PMID:8717042 PMID:8751863 PMID:8896560 PMID:9215679 PMID:9215680 More... NCBI chr14:55,433,163...55,634,011
Ensembl chr14:55,433,597...55,633,484 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:5458961 PMID:7677151 PMID:9288094 PMID:9288758 PMID:9527614 More... NCBI chr 3:38,934,573...38,948,609 JBrowse link
G MMAB metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:41,357,587...41,371,374
Ensembl chr14:41,357,637...41,373,205 		JBrowse link
G MVK mevalonate kinase ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:1377680 PMID:10369261 PMID:10369262 PMID:10401001 PMID:10417275 More... NCBI chr14:41,320,790...41,357,437
Ensembl chr14:41,281,673...41,357,368 		JBrowse link
G NLRC4 NLR family CARD domain containing 4 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:107,358,117...107,389,557 JBrowse link
G NLRP12 NLR family pyrin domain containing 12 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chediak-Higashi Syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18230725 PMID:21360512 More... NCBI chr 6:56,402,617...56,425,038
Ensembl chr 6:56,402,665...56,425,101 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:49161 PMID:447320 PMID:5173311 PMID:9536098 PMID:11687797 More... NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,243...56,977,228 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome		 ClinVar PMID:9536098 PMID:11385576 PMID:11385577 PMID:11425413 PMID:11875755 More... NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534 		JBrowse link
G PRF1 perforin 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:1156555 PMID:7851014 PMID:10583959 PMID:11179007 PMID:11565555 More... NCBI chr14:73,515,306...73,520,256
Ensembl chr14:73,512,769...73,520,202 		JBrowse link
G PSMB8 proteasome 20S subunit beta 8 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26524591 PMID:28492532 NCBI chr 7:25,058,456...25,061,666
Ensembl chr 7:25,058,465...25,062,245 		JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:25741868 PMID:27577878 PMID:28492532 PMID:30290665 PMID:35482138 NCBI chr 7:57,100,212...57,145,278
Ensembl chr 7:57,102,757...57,146,751 		JBrowse link
G RAB27A RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:10835631 PMID:15475639 PMID:16199547 PMID:16278825 PMID:18397837 More... NCBI chr 1:116,532,816...116,606,477
Ensembl chr 1:116,532,974...116,606,474 		JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:25741868 NCBI chr 5:64,287,529...64,312,917
Ensembl chr 5:64,285,015...64,313,612 		JBrowse link
G SGSH N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:22521419 PMID:24033266 PMID:25741868 PMID:26203641 PMID:26255310 More... NCBI chr12:2,241,824...2,248,388
Ensembl chr12:2,241,840...2,248,376 		JBrowse link
G SH2D1A SH2 domain containing 1A ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:9771704 PMID:11049992 PMID:15711562 PMID:22970278 PMID:25741868 More... NCBI chr  X:101,824,602...101,847,265
Ensembl chr  X:101,824,367...101,849,671 		JBrowse link
G SLC7A7 solute carrier family 7 member 7 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:10631139 PMID:15776427 PMID:17530437 PMID:17764084 PMID:20301535 More... NCBI chr 7:76,195,774...76,235,406
Ensembl chr 7:76,198,256...76,235,402 		JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome		 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28087229 PMID:28166811 More... NCBI chr 2:141,359,402...141,367,222
Ensembl chr 2:141,358,993...141,367,198 		JBrowse link
G STX11 syntaxin 11 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:24524345 PMID:25741868 PMID:28492532 NCBI chr 1:21,127,871...21,170,321
Ensembl chr 1:21,127,564...21,159,694 		JBrowse link
G STXBP2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:19804848 PMID:19884660 PMID:20558610 PMID:20798128 PMID:20823128 More... NCBI chr 2:71,504,575...71,513,446
Ensembl chr 2:71,504,569...71,513,422 		JBrowse link
G TBCE tubulin folding cofactor E ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr14:55,816,663...55,901,215
Ensembl chr14:55,816,668...55,901,171 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome		 ClinVar PMID:10199409 PMID:11443543 PMID:16508982 PMID:16635178 PMID:16684962 More... NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909 		JBrowse link
G UNC13D unc-13 homolog D ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:9536098 PMID:10459864 PMID:14622600 PMID:15466010 PMID:16199547 More... NCBI chr12:5,573,428...5,598,914
Ensembl chr12:5,573,668...5,589,085 		JBrowse link
G XIAP X-linked inhibitor of apoptosis ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:20517649 PMID:21119115 PMID:23944711 PMID:24033266 PMID:24616127 More... NCBI chr  X:101,399,374...101,440,021
Ensembl chr  X:101,399,812...101,440,013 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    syndrome 9894
      oculocutaneous albinism 79
        Syndromic Oculocutaneous Albinism 64
          Chediak-Higashi syndrome 34
            aleutian mink disease 0
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      nervous system disease 12962
        Neurologic Manifestations 9419
          sensory system disease 6506
            skin disease 3704
              pigmentation disease 247
                Hypopigmentation 143
                  Albinism 94
                    oculocutaneous albinism 79
                      Syndromic Oculocutaneous Albinism 64
                        Chediak-Higashi syndrome 34
                          aleutian mink disease 0
paths to the root