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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 4
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Accession:DOID:0070193 term browser browse the term
Definition:A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBA gene on chromosome 16q24.2. (DO)
Synonyms:exact_synonym: CGD due to deficiency of the alpha subunit of cytochrome b;   CGD4;   CYBA Deficiency;   autosomal recessive chronic granulomatous disease cytochrome b-negative;   autosomal recessive cytochrome b-negative CGD;   chronic granulomatous disease due to deficiency of CYBA;   chronic granulomatous disease due to deficiency of the Alpha subunit of cytochrome B
 primary_id: MESH:C565533
 alt_id: OMIM:233690


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autosomal recessive chronic granulomatous disease 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSF3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr 5:64,288,339...64,338,596
Ensembl chr 5:64,289,295...64,414,637 		JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr 5:64,047,188...64,229,582
Ensembl chr 5:64,047,175...64,229,077 		JBrowse link
G APRT adenine phosphoribosyltransferase ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr 5:64,563,154...64,565,537
Ensembl chr 5:64,563,192...64,565,445 		JBrowse link
G BANP BTG3 associated nuclear protein ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr 5:65,151,863...65,256,782
Ensembl chr 5:65,152,247...65,256,667 		JBrowse link
G CA5A carbonic anhydrase 5A ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr 5:65,269,855...65,297,593
Ensembl chr 5:65,269,635...65,296,777 		JBrowse link
G CBFA2T3 CBFA2/RUNX1 partner transcriptional co-repressor 3 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr 5:64,432,291...64,518,905
Ensembl chr 5:64,431,843...64,519,528 		JBrowse link
G CDH15 cadherin 15 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr 5:64,258,451...64,277,184
Ensembl chr 5:64,258,741...64,277,190 		JBrowse link
G CDK10 cyclin dependent kinase 10 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr 5:63,878,517...63,897,540
Ensembl chr 5:63,879,024...63,897,373 		JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr 5:64,566,035...64,570,361
Ensembl chr 5:64,566,043...64,570,748 		JBrowse link
G CENPBD1 CENPB DNA-binding domain containing 1 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr 5:63,649,010...63,651,612 JBrowse link
G CHMP1A charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr 5:63,897,544...63,906,515
Ensembl chr 5:63,897,594...63,905,550 		JBrowse link
G CPNE7 copine 7 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr 5:63,951,547...63,978,389
Ensembl chr 5:63,951,549...63,978,601 		JBrowse link
G CTU2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr 5:64,640,389...64,647,298
Ensembl chr 5:64,640,389...64,647,215 		JBrowse link
G CYBA cytochrome b-245 alpha chain ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative OMIM
ClinVar		 PMID:1415254 PMID:1763037 PMID:2243141 PMID:3368442 PMID:3571224 More... NCBI chr 5:64,692,865...64,701,056
Ensembl chr 5:64,692,123...64,704,893 		JBrowse link
G DBNDD1 dysbindin domain containing 1 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr 5:63,608,941...63,621,927
Ensembl chr 5:63,619,160...63,620,670 		JBrowse link
G DEF8 differentially expressed in FDCP 8 homolog ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr 5:63,656,411...63,671,934
Ensembl chr 5:63,656,218...63,669,025 		JBrowse link
G DPEP1 dipeptidase 1 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr 5:63,909,034...63,923,309
Ensembl chr 5:63,909,042...63,923,492 		JBrowse link
G FANCA FA complementation group A ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr 5:63,778,149...63,838,869
Ensembl chr 5:63,778,212...63,838,823 		JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr 5:64,534,194...64,562,169
Ensembl chr 5:64,534,131...64,562,169 		JBrowse link
G GAS8 growth arrest specific 8 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr 5:63,589,196...63,609,014
Ensembl chr 5:63,573,941...63,619,476 		JBrowse link
G IL17C interleukin 17C ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr 5:64,702,668...64,703,694
Ensembl chr 5:64,702,730...64,703,984 		JBrowse link
G JPH3 junctophilin 3 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr 5:65,445,329...65,530,288
Ensembl chr 5:65,451,050...65,530,294 		JBrowse link
G KLHDC4 kelch domain containing 4 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr 5:65,387,373...65,442,333
Ensembl chr 5:65,387,374...65,441,645 		JBrowse link
G MC1R melanocortin 1 receptor ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr 5:63,694,296...63,695,249 JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:23910690 PMID:28492532 NCBI chr 5:64,683,146...64,691,576
Ensembl chr 5:64,682,276...64,691,073 		JBrowse link
G PABPN1L PABPN1 like, cytoplasmic ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr 5:64,525,929...64,527,654 JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr 5:64,584,153...64,640,423
Ensembl chr 5:64,570,035...64,640,375 		JBrowse link
G RNF166 ring finger protein 166 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr 5:64,647,411...64,655,994
Ensembl chr 5:64,647,415...64,655,999 		JBrowse link
G RPL13 ribosomal protein L13 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr 5:63,978,424...63,980,698
Ensembl chr 5:63,978,424...63,980,603 		JBrowse link
G SLC22A31 solute carrier family 22 member 31 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr 5:64,254,330...64,258,295
Ensembl chr 5:64,255,239...64,259,186 		JBrowse link
G SLC7A5 solute carrier family 7 member 5 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858 		JBrowse link
G SNAI3 snail family transcriptional repressor 3 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr 5:64,661,122...64,668,589
Ensembl chr 5:64,661,190...64,667,690 		JBrowse link
G SPATA2L spermatogenesis associated 2 like ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr 5:63,874,072...63,878,512
Ensembl chr 5:63,873,005...63,878,395 		JBrowse link
G SPIRE2 spire type actin nucleation factor 2 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr 5:63,732,855...63,765,162
Ensembl chr 5:63,732,842...63,753,419 		JBrowse link
G TCF25 transcription factor 25 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr 5:63,697,627...63,729,780
Ensembl chr 5:63,681,752...63,729,684 		JBrowse link
G TRAPPC2L trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr 5:64,529,186...64,534,090
Ensembl chr 5:64,530,746...64,534,035 		JBrowse link
G TUBB3 tubulin beta 3 class III ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr 5:63,681,765...63,690,898
Ensembl chr 5:63,681,752...63,729,684 		JBrowse link
G VPS9D1 VPS9 domain containing 1 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr 5:63,858,158...63,870,167
Ensembl chr 5:63,859,134...63,870,158 		JBrowse link
G ZC3H18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr 5:64,708,472...64,774,098
Ensembl chr 5:64,704,083...64,766,994 		JBrowse link
G ZFPM1 zinc finger protein, FOG family member 1 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr 5:64,812,353...64,863,278 JBrowse link
G ZNF276 zinc finger protein 276 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr 5:63,838,818...63,857,742
Ensembl chr 5:63,838,987...63,857,924 		JBrowse link
G ZNF469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr 5:64,887,534...64,903,553 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    syndrome 10062
      primary immunodeficiency disease 3733
        phagocyte bactericidal dysfunction 146
          chronic granulomatous disease 94
            autosomal recessive chronic granulomatous disease 4 42
Path 2
Term Annotations click to browse term
  disease 17774
    Developmental Disease 17565
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17453
        genetic disease 17431
          monogenic disease 10125
            autosomal genetic disease 9332
              autosomal recessive disease 6467
                autosomal recessive chronic granulomatous disease 4 42
paths to the root