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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive chronic granulomatous disease cytochrome b-positive type II
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Accession:DOID:0070191 term browser browse the term
Definition:A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25. (DO)
Synonyms:exact_synonym: CDG2;   CGD, autosomal recessive, cytochrome B-positive, type II;   CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL RECESSIVE CYTOCHROME B-POSITIVE, TYPE 2;   Granulomatous Disease, Chronic, due to NCF2 Deficiency;   NCF2, deficiency of;   chronic granulomatous disease due to deficiency of NCF-2;   deficiency of P67-Phox;   deficiency of neutrophil cytosol factor 2
 primary_id: MESH:C565531
 alt_id: OMIM:233710;   RDO:0014139
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autosomal recessive chronic granulomatous disease cytochrome b-positive type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ncf2 neutrophil cytosolic factor 2 JBrowse link 13 70,226,441 70,259,019 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      respiratory system disease 2415
        lung disease 1395
          chronic granulomatous disease 12
            autosomal recessive chronic granulomatous disease cytochrome b-positive type II 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        sensory system disease 4681
          skin disease 2461
            Infectious Skin Diseases 142
              cellulitis 42
                chronic granulomatous disease 12
                  autosomal recessive chronic granulomatous disease cytochrome b-positive type II 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.