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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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Path 1
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 14927
      respiratory system disease 2409
        lung disease 1392
          chronic granulomatous disease 12
            autosomal recessive chronic granulomatous disease cytochrome b-positive type III 2
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        sensory system disease 4663
          skin disease 2447
            Infectious Skin Diseases 142
              cellulitis 42
                chronic granulomatous disease 12
                  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.