Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References FTP Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper Genome Scanner
Aging & Age-Related Disease Cancer Cardiovascular Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Genetic Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

ONTOLOGY REPORT - ANNOTATIONS
Term:autosomal recessive chronic granulomatous disease cytochrome b-positive type II
go back to main search page
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
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 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
Term paths to the root
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
paths to the root

Contact Us |  About Us |  License CC BY 4.0 |  Legal Disclaimer |  © Medical College of Wisconsin
NHLBI Logo

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