ONTOLOGY REPORT - ANNOTATIONS


Term:chronic granulomatous disease
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Accession:DOID:3265 term browser 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: Autosomal Recessive Chronic Granulomatous Disease;   Bridges-Good syndrome;   CGD;   Chronic Granulomatous Disease, Atypical;   Chronic Granulomatous Diseases;   Quie syndrome;   congenital dysphagocytosis
 primary_id: MESH:D006105
 alt_id: RDO:0005702
 xref: GARD:6100;   OMIM:PS306400;   ORDO:379
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chronic granulomatous disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyba cytochrome b-245 alpha chain JBrowse link 19 55,249,634 55,257,824 RGD:1600791
RGD:11554173
RGD:8554872
RGD:11040541
RGD:734861
G Cybb cytochrome b-245 beta chain JBrowse link X 14,578,330 14,610,049 RGD:1599664
RGD:11554173
RGD:8554872
RGD:11040566
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:11554173
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:6893353
G Ncf1 neutrophil cytosolic factor 1 JBrowse link 12 25,497,104 25,506,300 RGD:1600562
RGD:13592920
RGD:1624401
G Ncf2 neutrophil cytosolic factor 2 JBrowse link 13 70,226,441 70,259,019 RGD:1624401
RGD:8554872
G Ncf4 neutrophil cytosolic factor 4 JBrowse link 7 119,481,711 119,499,426 RGD:8554872
G Tlr5 toll-like receptor 5 JBrowse link 13 101,364,784 101,385,764 RGD:5130865
G Tlr9 toll-like receptor 9 JBrowse link 8 114,916,122 114,920,171 RGD:5130865
autosomal recessive chronic granulomatous disease cytochrome b-negative term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyba cytochrome b-245 alpha chain JBrowse link 19 55,249,634 55,257,824 RGD:7240710
RGD:8554872
autosomal recessive chronic granulomatous disease cytochrome b-positive type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ncf1 neutrophil cytosolic factor 1 JBrowse link 12 25,497,104 25,506,300 RGD:7240710
RGD:8554872
autosomal recessive chronic granulomatous disease cytochrome b-positive type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ncf2 neutrophil cytosolic factor 2 JBrowse link 13 70,226,441 70,259,019 RGD:7240710
RGD:8554872
autosomal recessive chronic granulomatous disease cytochrome b-positive type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ncf1 neutrophil cytosolic factor 1 JBrowse link 12 25,497,104 25,506,300 RGD:8554872
G Ncf4 neutrophil cytosolic factor 4 JBrowse link 7 119,481,711 119,499,426 RGD:7240710
RGD:8554872
Combined Cellular and Humoral Immune Defects with Granulomas term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rag1 recombination activating 1 JBrowse link 3 91,206,394 91,217,491 RGD:7240710
RGD:8554872
G Rag2 recombination activating 2 JBrowse link 3 91,191,837 91,200,134 RGD:7240710
RGD:8554872
X-linked chronic granulomatous disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cybb cytochrome b-245 beta chain JBrowse link X 14,578,330 14,610,049 RGD:7240710
RGD:8554872
RGD:11040567
RGD:11040562
RGD:11040560

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      respiratory system disease 2375
        lung disease 1370
          chronic granulomatous disease 11
            Combined Cellular and Humoral Immune Defects with Granulomas 2
            Granulomatous Disease with Defect in Neutrophil Chemotaxis 0
            X-linked chronic granulomatous disease 1
            autosomal dominant chronic granulomatous disease 0
            autosomal recessive chronic granulomatous disease cytochrome b-negative 1
            autosomal recessive chronic granulomatous disease cytochrome b-positive type I 1
            autosomal recessive chronic granulomatous disease cytochrome b-positive type II 1
            autosomal recessive chronic granulomatous disease cytochrome b-positive type III 2
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        sensory system disease 4244
          skin disease 2253
            Infectious Skin Diseases 137
              cellulitis 41
                chronic granulomatous disease 11
                  Combined Cellular and Humoral Immune Defects with Granulomas 2
                  Granulomatous Disease with Defect in Neutrophil Chemotaxis 0
                  X-linked chronic granulomatous disease 1
                  autosomal dominant chronic granulomatous disease 0
                  autosomal recessive chronic granulomatous disease cytochrome b-negative 1
                  autosomal recessive chronic granulomatous disease cytochrome b-positive type I 1
                  autosomal recessive chronic granulomatous disease cytochrome b-positive type II 1
                  autosomal recessive chronic granulomatous disease cytochrome b-positive type III 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.