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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
For additional species annotation, visit the Alliance of Genome Resources.


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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
G Mvd mevalonate diphosphate decarboxylase JBrowse link 19 55,258,910 55,268,933 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      respiratory system disease 2418
        lung disease 1396
          chronic granulomatous disease 12
            autosomal recessive chronic granulomatous disease cytochrome b-negative 2
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        sensory system disease 4697
          skin disease 2472
            Infectious Skin Diseases 146
              cellulitis 42
                chronic granulomatous disease 12
                  autosomal recessive chronic granulomatous disease cytochrome b-negative 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.