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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:immunodeficiency 51
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Accession:DOID:0111996 term browser browse the term
Definition:A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in the IL17RA gene on chromosome 22q11.1. (DO)
Synonyms:exact_synonym: CANDF5;   IMD51;   familial candidiasis 5
 primary_id: MIM:613953


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immunodeficiency 51 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA2 adenosine deaminase 2 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G ARVCF ARVCF delta catenin family member IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823 		JBrowse link
G ATP6V1E1 ATPase H+ transporting V1 subunit E1 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749 		JBrowse link
G BCL2L13 BCL2 like 13 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:17,628,877...17,730,855
Ensembl chr22:17,628,855...17,730,855 		JBrowse link
G BID BH3 interacting domain death agonist IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:17,734,138...17,774,665
Ensembl chr22:17,734,138...17,774,770 		JBrowse link
G C22orf39 chromosome 22 open reading frame 39 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,440,886...19,447,711
Ensembl chr22:19,351,368...19,447,711 		JBrowse link
G CDC45 cell division cycle 45 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612 		JBrowse link
G CECR2 CECR2 histone acetyl-lysine reader IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:17,359,949...17,558,151
Ensembl chr22:17,359,949...17,558,151 		JBrowse link
G CECR3 cat eye syndrome chromosome region, candidate 3 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:17,256,859...17,266,733
Ensembl chr22:17,256,859...17,266,822 		JBrowse link
G CLDN5 claudin 5 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,523,024...19,525,337
Ensembl chr22:19,523,024...19,527,545 		JBrowse link
G CLTCL1 clathrin heavy chain like 1 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,179,473...19,291,719
Ensembl chr22:19,179,473...19,291,719 		JBrowse link
G COMT catechol-O-methyltransferase IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G DGCR2 DiGeorge syndrome critical region gene 2 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,036,286...19,122,412
Ensembl chr22:19,036,282...19,122,454 		JBrowse link
G DGCR6 DiGeorge syndrome critical region gene 6 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:18,906,223...18,912,088
Ensembl chr22:18,906,028...18,914,238 		JBrowse link
G ESS2 ess-2 splicing factor homolog IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,130,279...19,144,651
Ensembl chr22:19,130,279...19,144,684 		JBrowse link
G GNB1L G protein subunit beta 1 like IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,783,223...19,854,874
Ensembl chr22:19,783,223...19,854,939 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G GSC2 goosecoid homeobox 2 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,146,993...19,150,292
Ensembl chr22:19,146,993...19,150,292 		JBrowse link
G HDHD5 haloacid dehalogenase like hydrolase domain containing 5 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:17,137,520...17,165,287
Ensembl chr22:17,137,511...17,165,287 		JBrowse link
G HIRA histone cell cycle regulator IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450 		JBrowse link
G IL17RA interleukin 17 receptor A IAGP ClinVar Annotator: match by term: Immunodeficiency 51
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5		 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21350122 PMID:24033266 More... NCBI chr22:17,085,000...17,115,693
Ensembl chr22:17,084,954...17,115,693 		JBrowse link
G LOC126863094 MED14-independent group 3 enhancer GRCh37_chr22:17587847-17589046 IAGP ClinVar Annotator: match by term: Immunodeficiency 51 ClinVar PMID:25741868 PMID:28492532 NCBI chr22:17,106,957...17,108,156 JBrowse link
G LOC129391259 MPRA-validated peak4440 silencer IAGP ClinVar Annotator: match by term: Immunodeficiency 51 ClinVar PMID:25741868 PMID:28492532 NCBI chr22:17,105,810...17,106,010 JBrowse link
G LOC130066893 ATAC-STARR-seq lymphoblastoid silent region 13429 IAGP ClinVar Annotator: match by term: Immunodeficiency 51 ClinVar NCBI chr22:17,084,783...17,085,002 JBrowse link
G LOC130066894 ATAC-STARR-seq lymphoblastoid silent region 13430 IAGP ClinVar Annotator: match by term: Immunodeficiency 51 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr22:17,085,023...17,085,142 JBrowse link
G MICAL3 microtubule associated monooxygenase, calponin and LIM domain containing 3 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:17,787,649...18,024,561
Ensembl chr22:17,787,649...18,024,561 		JBrowse link
G MRPL40 mitochondrial ribosomal protein L40 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,432,545...19,436,075
Ensembl chr22:19,432,545...19,436,075 		JBrowse link
G PEX26 peroxisomal biogenesis factor 26 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396 		JBrowse link
G PRODH proline dehydrogenase 1 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:18,912,781...18,936,553
Ensembl chr22:18,912,777...18,936,553 		JBrowse link
G RTL10 retrotransposon Gag like 10 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,846,146...19,854,874
Ensembl chr22:19,846,138...19,854,896 		JBrowse link
G SEPTIN5 septin 5 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,714,503...19,723,319
Ensembl chr22:19,714,503...19,724,224 		JBrowse link
G SLC25A1 solute carrier family 25 member 1 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739 		JBrowse link
G SLC25A18 solute carrier family 25 member 18 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:17,563,498...17,590,995
Ensembl chr22:17,563,450...17,590,995 		JBrowse link
G TANGO2 transport and golgi organization 2 homolog IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:20,017,023...20,067,164
Ensembl chr22:20,017,014...20,067,164 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TMEM121B transmembrane protein 121B IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:17,116,297...17,121,360
Ensembl chr22:17,116,297...17,121,367 		JBrowse link
G TSSK2 testis specific serine kinase 2 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,131,308...19,132,622
Ensembl chr22:19,131,308...19,132,622 		JBrowse link
G TUBA8 tubulin alpha 8 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:18,110,809...18,131,732
Ensembl chr22:18,110,100...18,146,683 		JBrowse link
G TXNRD2 thioredoxin reductase 2 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,875,522...19,941,818
Ensembl chr22:19,875,517...19,941,820 		JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202 		JBrowse link
G USP18 ubiquitin specific peptidase 18 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:18,150,170...18,177,397
Ensembl chr22:18,149,843...18,177,397 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97419
    syndrome 29836
      primary immunodeficiency disease 12622
        immunodeficiency 51 41
Path 2
Term Annotations click to browse term
  disease 97419
    Pathological Conditions, Signs and Symptoms 53709
      Signs and Symptoms 35585
        Neurologic Manifestations 32000
          sensory system disease 21102
            skin disease 10983
              Infectious Skin Diseases 343
                dermatomycosis 113
                  chronic mucocutaneous candidiasis 71
                    immunodeficiency 51 41
paths to the root