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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


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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: Granulomatous disease, chronic, X-linked ClinVar PMID:28492532 NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721 		JBrowse link
G Cybb cytochrome b-245 beta chain treatment ISO DNA:missense mutations:exons:1558T>C,937G>A,1271T>C,313C>T(human)
DNA:deletion:cds:
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked | ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked, variant		 OMIM
ClinVar
RGD		 PMID:1347621 PMID:1438069 PMID:1520880 PMID:1710153 PMID:1719419 More... RGD:11040560, RGD:11040562, RGD:11040567 NCBI chr  X:13,358,101...13,392,570
Ensembl chr  X:13,359,430...13,392,586 		JBrowse link
G Dynlt3 dynein light chain Tctex-type 3 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:13,327,933...13,337,139
Ensembl chr  X:13,327,892...13,337,139 		JBrowse link
G H2ap H2A.P histone ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:12,907,962...12,908,516 JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO ClinVar Annotator: match by term: CYTOCHROME b-NEGATIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED ClinVar PMID:25741868 NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646 		JBrowse link
G Otc ornithine transcarbamylase ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882 		JBrowse link
G Srpx sushi-repeat-containing protein, X-linked ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:12,676,984...12,751,296
Ensembl chr  X:12,566,645...12,747,882 		JBrowse link
G Sytl5 synaptotagmin-like 5 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:12,775,529...13,030,134
Ensembl chr  X:12,788,698...13,030,175 		JBrowse link
G Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked ClinVar PMID:8634410 PMID:9585602 PMID:20729109 PMID:22929960 PMID:27701760 More... NCBI chr  X:13,436,412...13,472,830
Ensembl chr  X:13,436,418...13,472,830 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      primary immunodeficiency disease 4146
        phagocyte bactericidal dysfunction 145
          chronic granulomatous disease 94
            X-linked chronic granulomatous disease 10
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            X-linked monogenic disease 1363
              X-linked recessive disease 581
                X-linked chronic granulomatous disease 10
paths to the root