ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive chronic granulomatous disease cytochrome b-negative
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Accession:DOID:0070193 term browser browse the term
Definition:A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBA gene on chromosome 16q24.2. (DO)
Synonyms:exact_synonym: CGD due to deficiency of the alpha subunit of cytochrome b;   CGD, autosomal recessive cytochrome b-negative;   CYBA Deficiency;   chronic granulomatous disease due to deficiency of CYBA;   chronic granulomatous disease due to deficiency of the Alpha subunit of cytochrome B
 primary_id: MESH:C565533
 alt_id: OMIM:233690;   RDO:0014141
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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

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Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      respiratory system disease 2375
        lung disease 1370
          chronic granulomatous disease 11
            autosomal recessive chronic granulomatous disease cytochrome b-negative 1
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
                  autosomal recessive chronic granulomatous disease cytochrome b-negative 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.