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: chronic granulomatous disease
Accession: DOID:3265
browse the term
Definition: A defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. When chronic granulomatous disease is caused by mutations in the CYBB gene, the condition is inherited in an X-linked recessive pattern. When chronic granulomatous disease is caused by CYBA, NCF1, NCF2, or NCF4 gene mutations, the condition is inherited in an autosomal recessive pattern.
Synonyms: exact_synonym: Bridges-Good syndrome; CGD; Quie syndrome; autosomal recessive chronic granulomatous disease; chronic granulomatous diseases; congenital dysphagocytosis
primary_id: MESH:D006105
xref: GARD:6100 ; ICD10CM:D71 ; NCI:C26788 ; OMIM:PS306400 ; ORDO:379
For additional species annotation, visit the
Alliance of Genome Resources .
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Cyba
cytochrome b-245 alpha chain
ISO
autosomal recessive cytochrome b-negative CGD, OMIM:233690;DNA:missense mutation: :p.R90Q (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chronic granulomatous disease DNA:nonsense,missense mutations:exons:35C>T, 98G>A,(p.Q3X,G24R)(human) DNA:mutations:multiple (human)
CTD ClinVar
PMID:1763037 PMID:2243141 PMID:20167518 , PMID:1415254 , PMID:10759707 , PMID:2243141
RGD:1600791 , RGD:11040541 , RGD:734861
NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
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Cybb
cytochrome b-245 beta chain
ISO
DNA:point mutations:promoter CTD Direct Evidence: marker/mechanism|therapeutic ClinVar Annotator: match by term: Chronic granulomatous disease DNA:mutations:promoter:
CTD ClinVar
PMID:11045425 PMID:11122248 PMID:11498749 PMID:17293536 PMID:21278736 , PMID:8083361 , PMID:11122248
RGD:1599664 , RGD:11040566
NCBI chr X:14,578,330...14,610,049
Ensembl chr X:14,578,264...14,612,547
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G6pd
glucose-6-phosphate dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:4125296
NCBI chr X:156,274,800...156,293,935
Ensembl chr X:156,274,800...156,293,926
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Ifng
interferon gamma
ISO
RGD
PMID:22883043
RGD:6893353
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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Ncf1
neutrophil cytosolic factor 1
ISO ISS
autosomal recessive cytochrome b-positive CGC type I, OMIM:233700, DNA:splice-site mutation:75delGT OMIM:138990 | OMIM:233690 | OMIM:233700 | OMIM:233710 | OMIM:306400 | OMIM:613960
MouseDO
PMID:7678602 , PMID:2393022
RGD:1600562 , RGD:1624401
NCBI chr12:25,497,104...25,506,300
Ensembl chr12:25,497,104...25,506,300
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Ncf2
neutrophil cytosolic factor 2
ISO
ClinVar Annotator: match by term: Chronic granulomatous disease
ClinVar
PMID:2393022
RGD:1624401
NCBI chr13:70,226,441...70,259,019
Ensembl chr13:70,226,647...70,257,576
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Ncf4
neutrophil cytosolic factor 4
ISO
ClinVar Annotator: match by term: Granulomatous Disease, Chronic ClinVar Annotator: match by term: Chronic granulomatous disease
ClinVar
PMID:19692703 PMID:29969437
NCBI chr 7:119,481,711...119,499,426
Ensembl chr 7:119,482,272...119,499,425
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Tlr5
toll-like receptor 5
ISO
protein:decreased expression:blood, neutrophil (human)
RGD
PMID:18155283
RGD:5130865
NCBI chr13:101,364,784...101,385,764
Ensembl chr13:101,381,510...101,385,764
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Tlr9
toll-like receptor 9
ISO
protein:decreased expression:blood, neutrophil (human)
RGD
PMID:18155283
RGD:5130865
NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
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Cybc1
cytochrome b-245 chaperone 1
ISO
ClinVar Annotator: match by term: Autosomal recessive chronic granulomatous disease 5
OMIM ClinVar
PMID:28600779 PMID:30312704 PMID:30361506
NCBI chr10:110,424,973...110,431,792
Ensembl chr10:110,424,974...110,431,792
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Cyba
cytochrome b-245 alpha chain
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar Annotator: match by OMIM:233690 ClinVar Annotator: match by null
OMIM ClinVar
PMID:1415254 PMID:1763037 PMID:2243141 PMID:3368442 PMID:3571224 PMID:4384563 PMID:9445163 PMID:10440830 PMID:10759707 PMID:10910929 PMID:10914676 PMID:12073015 PMID:18422995 PMID:19292887 PMID:19388116 PMID:19949658 PMID:20167518 PMID:20674832 PMID:22336310 PMID:22876374 PMID:22924696 PMID:25741868 PMID:27537055 PMID:27980538 PMID:28492532 PMID:29454792 PMID:30470980 PMID:30709874
NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
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Mvd
mevalonate diphosphate decarboxylase
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr19:55,258,910...55,268,933
Ensembl chr19:55,258,905...55,268,951
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Ncf1
neutrophil cytosolic factor 1
ISO
ClinVar Annotator: match by term: p47-PHOX DEFICIENCY ClinVar Annotator: match by term: p47-PHOX, DEFICIENCY OF ClinVar Annotator: match by OMIM:233700
OMIM ClinVar
PMID:742630 PMID:7678602 PMID:11133775 PMID:11433300 PMID:16972229 PMID:24446915 PMID:25741868
NCBI chr12:25,497,104...25,506,300
Ensembl chr12:25,497,104...25,506,300
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Ncf2
neutrophil cytosolic factor 2
ISO
ClinVar Annotator: match by term: Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 ClinVar Annotator: match by term: p67-PHOX, DEFICIENCY OF ClinVar Annotator: match by OMIM:233710
OMIM ClinVar
PMID:7795241 PMID:8781442 PMID:10498624 PMID:10598813 PMID:11499676 PMID:16937026 PMID:18625437 PMID:19624736 PMID:20167518 PMID:21900546 PMID:23821607 PMID:24033266 PMID:24931457 PMID:25741868 PMID:25937994 PMID:28492532
NCBI chr13:70,226,441...70,259,019
Ensembl chr13:70,226,647...70,257,576
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Ncf1
neutrophil cytosolic factor 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
ClinVar
PMID:24446915 PMID:25741868
NCBI chr12:25,497,104...25,506,300
Ensembl chr12:25,497,104...25,506,300
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Ncf4
neutrophil cytosolic factor 4
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III ClinVar Annotator: match by OMIM:613960
OMIM ClinVar
PMID:19692703 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29454792 PMID:29969437
NCBI chr 7:119,481,711...119,499,426
Ensembl chr 7:119,482,272...119,499,425
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Iftap
intraflagellar transport associated protein
ISO
ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas
ClinVar
PMID:8810255 PMID:25739914 PMID:28492532
NCBI chr 3:91,086,186...91,195,981
Ensembl chr 3:91,086,186...91,195,981
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Rag1
recombination activating 1
ISO
ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas ClinVar Annotator: match by OMIM:233650
OMIM ClinVar
PMID:8810255 PMID:9630231 PMID:10701853 PMID:10891452 PMID:11133745 PMID:11313270 PMID:11520796 PMID:11908269 PMID:11971977 PMID:12200379 PMID:15908971 PMID:16276422 PMID:16960852 PMID:17075247 PMID:17572155 PMID:17890453 PMID:18056378 PMID:18442948 PMID:18463379 PMID:18592361 PMID:18701881 PMID:18822103 PMID:19064334 PMID:19246248 PMID:19458910 PMID:19830075 PMID:19912631 PMID:20109747 PMID:20489056 PMID:20956421 PMID:21131235 PMID:21184155 PMID:21502542 PMID:21624848 PMID:21664875 PMID:21771083 PMID:22424479 PMID:23085344 PMID:23122631 PMID:24122031 PMID:24144642 PMID:24290284 PMID:24331380 PMID:24406074 PMID:24418478 PMID:24472623 PMID:24817258 PMID:24985406 PMID:25516070 PMID:25739914 PMID:25741868 PMID:25976673 PMID:26186701 PMID:26457731 PMID:26476733 PMID:26596586 PMID:26829731 PMID:27301863 PMID:27609655 PMID:28216420 PMID:28492532 PMID:28747913 PMID:28769923 PMID:28864286 PMID:30290665 PMID:30307608 PMID:30858051
NCBI chr 3:91,206,394...91,217,491
Ensembl chr 3:91,206,394...91,217,491
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Rag2
recombination activating 2
ISO
ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas
OMIM ClinVar
PMID:8810255 PMID:10777560 PMID:10891502 PMID:11133745 PMID:11138625 PMID:11313270 PMID:15025726 PMID:16111638 PMID:16960852 PMID:17572155 PMID:18033247 PMID:18463379 PMID:19178939 PMID:19414857 PMID:20234091 PMID:20603253 PMID:21131235 PMID:21502542 PMID:21624848 PMID:21625022 PMID:22295088 PMID:23243423 PMID:23994475 PMID:24139496 PMID:24144642 PMID:24174341 PMID:24331380 PMID:24481607 PMID:25707801 PMID:25739914 PMID:25741868 PMID:25869295 PMID:26186701 PMID:26457731 PMID:26476733 PMID:26515615 PMID:26692406 PMID:26915675 PMID:28492532 PMID:28747913 PMID:28769923 PMID:29051008 PMID:29772310 PMID:30305145 PMID:30307608
NCBI chr 3:91,191,837...91,200,134
Ensembl chr 3:91,191,837...91,200,134
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Cybb
cytochrome b-245 beta chain
treatment
ISO
ClinVar Annotator: match by term: Chronic granulomatous disease, X-linked ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked, variant ClinVar Annotator: match by OMIM:306400 DNA:deletion:cds: DNA:missense mutations:exons:1558T>C,937G>A,1271T>C,313C>T(human)
OMIM ClinVar
PMID:1347621 PMID:1438069 PMID:1710153 PMID:1719419 PMID:2072910 PMID:2523713 PMID:2556453 PMID:2838754 PMID:3600768 PMID:8101486 PMID:8182143 PMID:8634410 PMID:8655140 PMID:8900212 PMID:8916969 PMID:8961628 PMID:9585602 PMID:9667376 PMID:9856476 PMID:10068684 PMID:10089913 PMID:10627478 PMID:10828042 PMID:10914676 PMID:10980575 PMID:11112388 PMID:11162142 PMID:11413138 PMID:11435314 PMID:11462241 PMID:11566256 PMID:11700292 PMID:11997083 PMID:12094329 PMID:12139950 PMID:12589359 PMID:14697745 PMID:15338276 PMID:18509647 PMID:18546332 PMID:18708296 PMID:19410294 PMID:19483051 PMID:20228266 PMID:20724480 PMID:20729109 PMID:21190454 PMID:21659519 PMID:22540226 PMID:22876374 PMID:22924737 PMID:22929960 PMID:23193493 PMID:23859418 PMID:23910690 PMID:23956436 PMID:24276928 PMID:24943880 PMID:24999735 PMID:25252997 PMID:25666294 PMID:25741868 PMID:26185101 PMID:26453586 PMID:27701760 PMID:28168067 PMID:28251166 PMID:28492532 PMID:29560547 PMID:29702544 PMID:30237823 PMID:30470980 PMID:30506560 PMID:30633606 , PMID:12804147 , PMID:7694872 , PMID:10068684
RGD:11040567 , RGD:11040562 , RGD:11040560
NCBI chr X:14,578,330...14,610,049
Ensembl chr X:14,578,264...14,612,547
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Dynlt3
dynein light chain Tctex-type 3
ISO
ClinVar Annotator: match by term: Chronic granulomatous disease, X-linked
ClinVar
PMID:22929960 PMID:27701760 PMID:28492532
NCBI chr X:14,633,342...14,642,356
Ensembl chr X:14,633,342...14,642,424
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Hypm
huntingtin interacting protein M
ISO
ClinVar Annotator: match by term: Chronic granulomatous disease, X-linked
ClinVar
PMID:22929960 PMID:27701760 PMID:28492532
NCBI chr X:13,989,401...13,989,955
Ensembl chr X:13,989,401...13,989,955
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Otc
ornithine transcarbamylase
ISO
ClinVar Annotator: match by term: Chronic granulomatous disease, X-linked
ClinVar
PMID:22929960 PMID:27701760 PMID:28492532
NCBI chr X:13,524,804...13,601,074
Ensembl chr X:13,524,607...13,601,069
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Rpgr
retinitis pigmentosa GTPase regulator
ISO
ClinVar Annotator: match by term: Chronic granulomatous disease, X-linked
ClinVar
PMID:22929960 PMID:27701760 PMID:28492532
NCBI chr X:14,271,012...14,331,745
Ensembl chr X:14,271,017...14,331,486
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Srpx
sushi-repeat-containing protein, X-linked
ISO
ClinVar Annotator: match by term: Chronic granulomatous disease, X-linked
ClinVar
PMID:22929960 PMID:27701760 PMID:28492532
NCBI chr X:14,146,618...14,220,756
Ensembl chr X:14,150,038...14,220,662
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Sytl5
synaptotagmin-like 5
ISO
ClinVar Annotator: match by term: Chronic granulomatous disease, X-linked
ClinVar
PMID:22929960 PMID:27701760 PMID:28492532
NCBI chr X:13,857,669...14,109,592
Ensembl chr X:14,019,961...14,109,568
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