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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 3
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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 cytochrome b-positive type III;   chronic granulomatous disease, due to NCF4 deficiency
 primary_id: OMIM:613960


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autosomal recessive chronic granulomatous disease 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIMIP4 ciliary microtubule inner protein 4 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III ClinVar PMID:28492532 NCBI chr10:27,495,451...27,510,203
Ensembl chr10:27,494,157...27,510,199 		JBrowse link
G CSF2RB colony stimulating factor 2 receptor subunit beta ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III ClinVar PMID:28492532 NCBI chr10:27,541,645...27,566,907
Ensembl chr10:27,541,647...27,567,278 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III ClinVar PMID:11920901 PMID:24446915 PMID:25741868 PMID:33746979 NCBI chr 6:5,702,222...5,719,515
Ensembl chr 6:5,605,694...5,719,458 		JBrowse link
G NCF4 neutrophil cytosolic factor 4 ISO ClinVar Annotator: match by term: CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE III | ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3 | ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16880254 PMID:17576681 PMID:19692703 More... NCBI chr10:27,597,296...27,672,199
Ensembl chr10:27,597,486...27,615,261 		JBrowse link
G TST thiosulfate sulfurtransferase ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III ClinVar PMID:28492532 NCBI chr10:27,474,101...27,486,603
Ensembl chr10:27,473,764...27,486,575 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    syndrome 10064
      primary immunodeficiency disease 3735
        phagocyte bactericidal dysfunction 146
          chronic granulomatous disease 94
            autosomal recessive chronic granulomatous disease 3 5
Path 2
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17452
        genetic disease 17430
          monogenic disease 10127
            autosomal genetic disease 9334
              autosomal recessive disease 6469
                autosomal recessive chronic granulomatous disease 3 5
paths to the root