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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 III
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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;   CGD3;   autosomal recessive CGD, cytochrome B-positive, type III;   autosomal recessive chronic granulomatous disease 3;   chronic granulomatous disease, due to NCF4 deficiency
 primary_id: OMIM:613960
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive chronic granulomatous disease cytochrome b-positive type III 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 term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III ClinVar PMID:24446915 PMID:25741868 NCBI chr12:25,497,104...25,506,300
Ensembl chr12:25,497,104...25,506,300
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G Ncf4 neutrophil cytosolic factor 4 ISO ClinVar Annotator: match by OMIM:613960
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
OMIM
ClinVar
PMID:19692703 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29454792 PMID:29969437 NCBI chr 7:119,481,711...119,499,426
Ensembl chr 7:119,482,272...119,499,425
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      respiratory system disease 2706
        lung disease 1600
          chronic granulomatous disease 20
            autosomal recessive chronic granulomatous disease cytochrome b-positive type III 2
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        sensory system disease 5168
          skin disease 2711
            Infectious Skin Diseases 188
              cellulitis 34
                chronic granulomatous disease 20
                  autosomal recessive chronic granulomatous disease cytochrome b-positive type III 2
paths to the root