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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 1
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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 cytochrome b-positive type I;   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


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autosomal recessive chronic granulomatous disease 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC106029312 Williams-Beuren syndrome medial block B recombination region IAGP ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1
ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF1 DEFICIENCY		 ClinVar PMID:742630 PMID:7678602 PMID:11133775 PMID:11433300 PMID:11920901 More... NCBI chr 7:74,733,937...74,869,227 JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP
EXP		 ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF1 DEFICIENCY
ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:742630 PMID:7678602 PMID:11133775 PMID:11433300 PMID:11920901 More... NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18075
      primary immunodeficiency disease 5019
        phagocyte bactericidal dysfunction 180
          chronic granulomatous disease 104
            autosomal recessive chronic granulomatous disease 1 2
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          monogenic disease 18511
            autosomal genetic disease 16781
              autosomal recessive disease 10240
                autosomal recessive chronic granulomatous disease 1 2
paths to the root