Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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: OMIM:613953



show annotations for term's descendants           Sort by:
immunodeficiency 51 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arvcf ARVCF, delta catenin family member ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805
JBrowse link
G Atp6v1e1 ATPase H+ transporting V1 subunit E1 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 4:154,022,358...154,044,486
Ensembl chr 4:154,022,358...154,044,584
JBrowse link
G Bcl2l13 Bcl2-like 13 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 4:154,056,116...154,112,890
Ensembl chr 4:154,056,127...154,108,985
JBrowse link
G Bid BH3 interacting domain death agonist ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 4:154,113,198...154,136,353
Ensembl chr 4:154,113,198...154,134,720
JBrowse link
G C11h22orf39 similar to human chromosome 22 open reading frame 39 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235
JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
JBrowse link
G Cecr2 CECR2, histone acetyl-lysine reader ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 4:153,890,310...153,998,078
Ensembl chr 4:153,890,206...153,993,451
JBrowse link
G Cldn5 claudin 5 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,212,822...82,214,248
Ensembl chr11:82,211,475...82,214,992
JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
JBrowse link
G Dgcr2 DiGeorge syndrome critical region gene 2 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:83,093,961...83,144,507
Ensembl chr11:83,094,037...83,144,502
JBrowse link
G Dgcr6 DiGeorge syndrome critical region gene 6 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,927,725...82,932,823
Ensembl chr11:82,927,725...82,932,823
JBrowse link
G Ess2 ess-2 splicing factor homolog ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:83,075,893...83,085,849
Ensembl chr11:83,075,925...83,084,846
JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466
JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
JBrowse link
G Gsc2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:83,070,784...83,075,874
Ensembl chr11:83,072,138...83,074,126
JBrowse link
G Hdhd5 haloacid dehalogenase like hydrolase domain containing 5 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 4:153,701,026...153,753,303
Ensembl chr 4:153,718,791...153,753,277
JBrowse link
G Hira histone cell cycle regulator ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529
JBrowse link
G Il17ra interleukin 17 receptor A ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 | ClinVar Annotator: match by term: Immunodeficiency 51
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21350122 PMID:24033266 More... NCBI chr 4:153,667,534...153,690,174
Ensembl chr 4:153,667,534...153,690,174
JBrowse link
G Mical3 microtubule associated monooxygenase, calponin and LIM domain containing 3 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 4:154,152,776...154,353,274
Ensembl chr 4:154,153,834...154,302,590
JBrowse link
G Mrpl40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,133,398...82,139,234
Ensembl chr11:82,133,398...82,139,233
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952
JBrowse link
G Prodh proline dehydrogenase ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305
JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393
JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781
JBrowse link
G Slc25a18 solute carrier family 25 member 18 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 4:154,000,808...154,021,373
Ensembl chr 4:154,000,990...154,021,372
JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574
JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
JBrowse link
G Tmem121b transmembrane protein 121B ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 4:153,695,191...153,700,104
Ensembl chr 4:153,698,194...153,699,912
JBrowse link
G Tssk2 testis-specific serine kinase 2 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:83,086,578...83,087,933 JBrowse link
G Tuba8 tubulin, alpha 8 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 4:154,440,045...154,456,918
Ensembl chr 4:154,440,074...154,456,917
JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156
JBrowse link
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,161,618...82,185,107
Ensembl chr11:82,161,619...82,185,087
JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 4:154,471,634...154,499,154
Ensembl chr 4:154,471,592...154,499,144
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      primary immunodeficiency disease 4144
        immunodeficiency 51 33
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13332
      Signs and Symptoms 10808
        Neurologic Manifestations 10040
          sensory system disease 6939
            skin disease 3960
              Infectious Skin Diseases 265
                dermatomycosis 96
                  chronic mucocutaneous candidiasis 56
                    immunodeficiency 51 33
paths to the root