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

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:autosomal recessive chronic granulomatous disease cytochrome b-positive type I
go back to main search page
Accession:DOID:0070192 term browser browse the term
Definition:A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23. (DO)
Synonyms:exact_synonym: CDG1;   CGD, autosomal recessive cytochrome B-positive, type I;   CGD1;   NCF1 deficiency;   SOC2 deficiency;   autosomal recessive chronic granulomatous disease 1;   chronic granulomatous disease due to NCF1 deficiency;   chronic granulomatous disease due to deficiency of NCF-1;   deficiency of NCF1;   deficiency of SOC2;   deficiency of neutrophil cytosol factor 1;   deficiency of p47-phox;   deficiency of soluble oxidase component II;   neutrophil cytosol factor 1 deficiency;   p47-phox deficiency
 primary_id: MESH:C565532
 alt_id: OMIM:233700
 xref: NCI:C154314
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
autosomal recessive chronic granulomatous disease cytochrome b-positive type I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncf1 neutrophil cytosolic factor 1 ISO ClinVar Annotator: match by OMIM:233700
ClinVar Annotator: match by term: p47-PHOX, DEFICIENCY OF
ClinVar Annotator: match by term: p47-PHOX DEFICIENCY
OMIM
ClinVar
PMID:742630 PMID:7678602 PMID:11133775 PMID:11433300 PMID:16972229 PMID:24446915 PMID:25741868 NCBI chr12:25,497,104...25,506,300
Ensembl chr12:25,497,104...25,506,300
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      respiratory system disease 2761
        lung disease 1652
          chronic granulomatous disease 20
            autosomal recessive chronic granulomatous disease cytochrome b-positive type I 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        sensory system disease 5285
          skin disease 2775
            Infectious Skin Diseases 186
              cellulitis 34
                chronic granulomatous disease 20
                  autosomal recessive chronic granulomatous disease cytochrome b-positive type I 1
paths to the root