ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive chronic granulomatous disease cytochrome b-positive type III
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Accession:DOID:0070194 term browser browse the term
Definition:A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12. (DO)
Synonyms:exact_synonym: CDG3;   CGD, autosomal recessive, cytochrome B-positive, type III;   chronic granulomatous disease, due to NCF4 deficiency
 primary_id: OMIM:613960
 alt_id: RDO:9000313
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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

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  disease 14875
    disease of anatomical entity 14051
      respiratory system disease 2375
        lung disease 1370
          chronic granulomatous disease 11
            autosomal recessive chronic granulomatous disease cytochrome b-positive type III 2
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          skin disease 2253
            Infectious Skin Diseases 137
              cellulitis 41
                chronic granulomatous disease 11
                  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.