Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive chronic granulomatous disease cytochrome b-positive type III
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      respiratory system disease 2409
        lung disease 1403
          chronic granulomatous disease 12
            autosomal recessive chronic granulomatous disease cytochrome b-positive type III 2
Path 2
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      nervous system disease 10270
        sensory system disease 4663
          skin disease 2467
            Infectious Skin Diseases 146
              cellulitis 42
                chronic granulomatous disease 12
                  autosomal recessive chronic granulomatous disease cytochrome b-positive type III 2
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.