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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive chronic granulomatous disease cytochrome b-positive type I
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Accession:DOID:0070192 term browser browse the term
Definition:A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23. (DO)
Synonyms:exact_synonym: CDG1;   CGD, autosomal recessive cytochrome B-positive, type I;   NCF1, DEFICIENCY OF;   Neutrophil Cytosol Factor 1, Deficiency of;   P47-Phox, Deficiency of;   chronic granulomatous disease due to NCF1 deficiency;   chronic granulomatous disease due to deficiency of NCF-1;   deficiency of SOC2;   deficiency of soluble oxidase component II
 primary_id: MESH:C565532
 alt_id: OMIM:233700;   RDO:0014140
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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

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Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      respiratory system disease 2415
        lung disease 1395
          chronic granulomatous disease 12
            autosomal recessive chronic granulomatous disease cytochrome b-positive type I 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          skin disease 2461
            Infectious Skin Diseases 142
              cellulitis 42
                chronic granulomatous disease 12
                  autosomal recessive chronic granulomatous disease cytochrome b-positive type I 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.