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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 18
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Accession:DOID:0111971 term browser browse the term
Definition:A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3E gene on chromosome 11q23.3. (DO)
Synonyms:exact_synonym: CD3-epsilon deficiency;   IMD18;   immunodeficiency due to defect in CD3-Epsilon
 related_synonym: immunodeficiency 18, SCID variant;   immunodeficiency 18, severe combined;   immunodeficiency variant
 primary_id: MESH:C566082
 alt_id: OMIM:615615

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show annotations for term's descendants           Sort by:
immunodeficiency 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:20,256,467...20,270,172
Ensembl chrNW_004955412:20,256,293...20,271,278 		JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:18,170,331...18,172,298
Ensembl chrNW_004955412:18,170,331...18,172,298 		JBrowse link
G Apoa4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:18,158,095...18,160,636
Ensembl chrNW_004955412:18,155,801...18,160,701 		JBrowse link
G Apoc3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:18,165,667...18,168,015
Ensembl chrNW_004955412:18,165,667...18,168,015 		JBrowse link
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:19,718,534...19,750,340
Ensembl chrNW_004955412:19,718,132...19,753,361 		JBrowse link
G Arhgef12 Rho guanine nucleotide exchange factor 12 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:21,344,671...21,497,951
Ensembl chrNW_004955412:21,355,575...21,497,951 		JBrowse link
G Atp5mg ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:19,555,736...19,563,094 JBrowse link
G Bace1 beta-secretase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:18,596,643...18,620,089
Ensembl chrNW_004955412:18,596,643...18,620,362 		JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:20,029,988...20,059,057
Ensembl chrNW_004955412:20,029,988...20,059,057 		JBrowse link
G C1qtnf5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:20,419,754...20,421,541
Ensembl chrNW_004955412:20,415,287...20,421,541 		JBrowse link
G C2cd2l C2CD2 like ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:20,214,915...20,232,260
Ensembl chrNW_004955412:20,223,890...20,236,709 		JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:20,307,011...20,388,539
Ensembl chrNW_004955412:20,307,011...20,388,539 		JBrowse link
G Cd3d CD3d molecule ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:19,481,059...19,484,890
Ensembl chrNW_004955412:19,480,977...19,484,721 		JBrowse link
G Cd3e CD3e molecule ISO ClinVar Annotator: match by term: Immunodeficiency 18 | ClinVar Annotator: match by term: Immunodeficiency 18, scid variant OMIM
ClinVar		 PMID:1370449 PMID:1635567 PMID:1676369 PMID:8490660 PMID:9536098 More... NCBI chrNW_004955412:19,464,666...19,476,425
Ensembl chrNW_004955412:19,464,613...19,478,990 		JBrowse link
G Cd3g CD3g molecule ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:19,486,066...19,496,474
Ensembl chrNW_004955412:19,486,284...19,494,922 		JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:20,113,844...20,126,783
Ensembl chrNW_004955412:20,113,375...20,126,656 		JBrowse link
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:18,627,023...18,695,685
Ensembl chrNW_004955412:18,634,074...18,694,346 		JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:20,016,768...20,031,635
Ensembl chrNW_004955412:20,016,587...20,031,629 		JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:19,854,785...19,889,422
Ensembl chrNW_004955412:19,854,785...19,889,426 		JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:20,205,381...20,217,874
Ensembl chrNW_004955412:20,205,381...20,217,871 		JBrowse link
G Drc12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:20,292,619...20,297,902
Ensembl chrNW_004955412:20,292,769...20,297,053 		JBrowse link
G Dscaml1 DS cell adhesion molecule like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:18,708,444...19,022,538
Ensembl chrNW_004955412:18,708,993...19,022,523 		JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:20,096,633...20,108,344
Ensembl chrNW_004955412:20,087,575...20,109,060 		JBrowse link
G Fxyd2 FXYD domain containing ion transport regulator 2 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:19,039,635...19,046,172
Ensembl chrNW_004955412:19,039,635...19,046,159 		JBrowse link
G Fxyd6 FXYD domain containing ion transport regulator 6 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:19,053,627...19,090,582
Ensembl chrNW_004955412:19,052,801...19,090,582 		JBrowse link
G Grik4 glutamate ionotropic receptor kainate type subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:21,563,879...21,932,292
Ensembl chrNW_004955412:21,563,595...21,934,427 		JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:20,236,607...20,247,288
Ensembl chrNW_004955412:20,242,317...20,249,456 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:20,192,519...20,202,635
Ensembl chrNW_004955412:20,192,522...20,202,635 		JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:20,149,104...20,161,378
Ensembl chrNW_004955412:20,148,953...20,161,172 		JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:19,697,995...19,710,965
Ensembl chrNW_004955412:19,697,995...19,711,665 		JBrowse link
G Il10ra interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:19,182,536...19,197,083
Ensembl chrNW_004955412:19,182,029...19,193,971 		JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:19,363,501...19,402,213 JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:19,586,435...19,670,149
Ensembl chrNW_004955412:19,586,141...19,665,527 		JBrowse link
G LOC102025775 histone H2AX ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:20,203,173...20,204,714
Ensembl chrNW_004955412:20,203,772...20,204,203 		JBrowse link
G Mcam melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:20,396,056...20,404,777
Ensembl chrNW_004955412:20,397,051...20,404,780 		JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:20,421,935...20,426,760
Ensembl chrNW_004955412:20,421,935...20,426,760 		JBrowse link
G Mpzl2 myelin protein zero like 2 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:19,422,532...19,434,596
Ensembl chrNW_004955412:19,422,537...19,434,596 		JBrowse link
G Mpzl3 myelin protein zero like 3 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:19,402,064...19,420,431
Ensembl chrNW_004955412:19,402,064...19,420,431 		JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:20,683,007...20,745,069
Ensembl chrNW_004955412:20,682,861...20,745,069 		JBrowse link
G Nherf4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:20,287,543...20,292,580
Ensembl chrNW_004955412:20,288,506...20,292,134 		JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:20,275,767...20,287,414
Ensembl chrNW_004955412:20,275,917...20,287,414 		JBrowse link
G Oaf out at first homolog ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:21,235,927...21,251,100
Ensembl chrNW_004955412:21,235,927...21,251,182 		JBrowse link
G Pafah1b2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:18,471,621...18,494,082
Ensembl chrNW_004955412:18,474,199...18,494,082 		JBrowse link
G Pcsk7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:18,530,378...18,553,725
Ensembl chrNW_004955412:18,530,504...18,554,220 		JBrowse link
G Phldb1 pleckstrin homology like domain family B member 1 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:19,754,997...19,800,984
Ensembl chrNW_004955412:19,756,379...19,800,984 		JBrowse link
G Pou2f3 POU class 2 homeobox 3 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:21,261,389...21,339,602
Ensembl chrNW_004955412:21,260,993...21,342,584 		JBrowse link
G Rnf214 ring finger protein 214 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:18,555,881...18,594,341
Ensembl chrNW_004955412:18,555,887...18,593,815 		JBrowse link
G Rnf26 ring finger protein 26 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:20,415,468...20,418,263
Ensembl chrNW_004955412:20,416,067...20,417,368 		JBrowse link
G Rps25 ribosomal protein S25 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:20,126,769...20,129,071
Ensembl chrNW_004955412:20,126,775...20,128,748 		JBrowse link
G Sc5d sterol-C5-desaturase ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:22,274,131...22,288,870
Ensembl chrNW_004955412:22,274,250...22,288,870 		JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:19,341,008...19,353,563
Ensembl chrNW_004955412:19,340,947...19,354,062 		JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:19,312,697...19,330,913
Ensembl chrNW_004955412:19,311,797...19,331,201 		JBrowse link
G Sidt2 SID1 transmembrane family member 2 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:18,505,453...18,521,667
Ensembl chrNW_004955412:18,505,453...18,522,082 		JBrowse link
G Sik3 SIK family kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:18,177,175...18,280,687
Ensembl chrNW_004955412:18,177,175...18,280,748 		JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:20,133,652...20,140,134
Ensembl chrNW_004955412:20,133,652...20,139,542 		JBrowse link
G Sorl1 sortilin related receptor 1 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:22,421,984...22,576,179
Ensembl chrNW_004955412:22,421,984...22,576,179 		JBrowse link
G Tagln transgelin ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:18,523,469...18,529,285
Ensembl chrNW_004955412:18,523,469...18,529,285 		JBrowse link
G Tbcel tubulin folding cofactor E like ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:21,969,521...22,044,348
Ensembl chrNW_004955412:21,968,964...22,045,813 		JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:22,062,618...22,132,037
Ensembl chrNW_004955412:22,062,618...22,131,442 		JBrowse link
G Thy1 Thy-1 cell surface antigen ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:20,480,284...20,484,958
Ensembl chrNW_004955412:20,480,284...20,484,958 		JBrowse link
G Tlcd5 TLC domain containing 5 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:21,344,464...21,350,675
Ensembl chrNW_004955412:21,344,261...21,352,074 		JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:19,690,048...19,695,258
Ensembl chrNW_004955412:19,690,048...19,695,258 		JBrowse link
G Tmprss13 transmembrane serine protease 13 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:19,111,391...19,139,391
Ensembl chrNW_004955412:19,111,759...19,139,390 		JBrowse link
G Tmprss4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:19,258,955...19,292,766
Ensembl chrNW_004955412:19,258,949...19,292,829 		JBrowse link
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:20,129,154...20,133,043
Ensembl chrNW_004955412:20,129,154...20,133,043 		JBrowse link
G Treh trehalase ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:19,801,153...19,815,394
Ensembl chrNW_004955412:19,801,376...19,814,305 		JBrowse link
G Trim29 tripartite motif containing 29 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:21,134,076...21,158,982
Ensembl chrNW_004955412:21,134,019...21,159,172 		JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:19,670,590...19,672,495 JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:19,517,182...19,551,503
Ensembl chrNW_004955412:19,516,691...19,553,773 		JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:20,086,991...20,089,062
Ensembl chrNW_004955412:20,084,801...20,089,289 		JBrowse link
G Usp2 ubiquitin specific peptidase 2 ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:28492532 NCBI chrNW_004955412:20,435,778...20,461,898
Ensembl chrNW_004955412:20,433,302...20,457,493 		JBrowse link
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Immunodeficiency 18 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chrNW_004955412:20,161,520...20,190,141
Ensembl chrNW_004955412:20,177,623...20,190,141 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14206
    syndrome 9376
      primary immunodeficiency disease 3480
        immunodeficiency 18 72
Path 2
Term Annotations click to browse term
  disease 14206
    Developmental Disease 12386
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11607
        genetic disease 11298
          monogenic disease 9486
            autosomal genetic disease 8807
              autosomal recessive disease 6207
                immunodeficiency 18 72
paths to the root