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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 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;   CGD2;   NCF2 deficiency;   autosomal recessive CGD, cytochrome B-positive, type II;   autosomal recessive chronic granulomatous disease 2;   autosomal recessive chronic granulomatous disease, cytochrome B-positive, type 2;   chronic granulomatous disease due to NCF2 deficiency;   chronic granulomatous disease due to deficiency of NCF-2;   deficiency of NCF2;   deficiency of P67-Phox;   deficiency of neutrophil cytosol factor 2;   neutrophil cytosol factor 2 deficiency;   p67-phox deficiency
 primary_id: MESH:C565531
 alt_id: OMIM:233710
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive chronic granulomatous disease cytochrome b-positive type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncf2 neutrophil cytosolic factor 2 ISO ClinVar Annotator: match by OMIM:233710
ClinVar Annotator: match by term: p67-PHOX, DEFICIENCY OF
ClinVar Annotator: match by term: Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2
OMIM
ClinVar
PMID:7795241 PMID:8781442 PMID:10498624 PMID:10598813 PMID:11499676 PMID:16937026 PMID:18625437 PMID:19624736 PMID:20167518 PMID:21900546 PMID:23821607 PMID:24033266 PMID:24931457 PMID:25741868 PMID:25937994 PMID:28492532 NCBI chr13:70,226,441...70,259,019
Ensembl chr13:70,226,647...70,257,576
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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 II 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 II 1
paths to the root