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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:X-linked chronic granulomatous disease
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Accession:DOID:0070195 term browser browse the term
Definition:A chronic granulomatous disease characterized by X-linked inheritance that has_material_basis_in mutation in the CYBB gene on chromosome Xp21.1-p11.4. (DO)
Synonyms:exact_synonym: CDGX;   CGDX;   X-linked chronic granulomatous disease, cytochrome B-negative
 narrow_synonym: X-linked chronic granulomatous disease, cytochrome B-positive;   X-linked chronic granulomatous disease, variant;   atypical chronic granulomatous disease
 primary_id: OMIM:306400
 alt_id: DOID:0070190
 xref: NCI:C154315
For additional species annotation, visit the Alliance of Genome Resources.


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X-linked chronic granulomatous disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyba cytochrome b-245 alpha chain ISO ClinVar Annotator: match by term: Chronic granulomatous disease, X-linked ClinVar PMID:28492532 NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
JBrowse link
G 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:missense mutations:exons:1558T>C,937G>A,1271T>C,313C>T(human)
DNA:deletion:cds:
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:9536098 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:17576681 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:10068684, PMID:7694872, PMID:12804147 RGD:11040560, RGD:11040562, RGD:11040567 NCBI chr  X:14,578,330...14,610,049
Ensembl chr  X:14,578,264...14,612,547
JBrowse link
G 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
JBrowse link
G H2ap H2A.P histone 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    syndrome 7575
      primary immunodeficiency disease 2514
        phagocyte bactericidal dysfunction 33
          chronic granulomatous disease 20
            X-linked chronic granulomatous disease 8
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        sensory system disease 5332
          skin disease 2745
            Infectious Skin Diseases 201
              cellulitis 34
                chronic granulomatous disease 20
                  X-linked chronic granulomatous disease 8
paths to the root