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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:inflammatory bowel disease 28
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Accession:DOID:0110899 term browser browse the term
Definition:An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the IL10RA gene on chromosome 11q23. (DO)
Synonyms:exact_synonym: IBD28;   autosomal recessive inflammatory bowel disease 28;   early onset autosomal recessive inflammatory bowel disease 28
 primary_id: MESH:C567728
 alt_id: MIM:613148
 xref: NCI:C164676


show annotations for term's descendants           Sort by:
inflammatory bowel disease 28 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: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:44,611,187...44,629,818
Ensembl chr 8:53,508,005...53,523,571 		JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:55,423,825...55,425,729 		JBrowse link
G Apoa4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:55,435,779...55,438,160
Ensembl chr 8:55,434,168...55,438,164 		JBrowse link
G Apoc3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:55,428,172...55,430,352
Ensembl chr 8:55,428,024...55,458,679 		JBrowse link
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:53,954,404...53,979,005 		JBrowse link
G Arhgef12 Rho guanine nucleotide exchange factor 12 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:43,350,070...43,475,404
Ensembl chr 8:52,247,047...52,372,376 		JBrowse link
G Atp5mg ATP synthase membrane subunit G ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:54,122,457...54,130,407
Ensembl chr 8:54,122,457...54,132,831 		JBrowse link
G Bace1 beta-secretase 1 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:55,038,842...55,061,138
Ensembl chr 8:55,038,823...55,064,918 		JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,811,977...44,840,611
Ensembl chr 8:53,708,770...53,737,395 		JBrowse link
G C1qtnf5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:53,347,754...53,349,912
Ensembl chr 8:53,347,711...53,349,912 		JBrowse link
G C2cd2l C2CD2-like ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:53,544,887...53,557,127
Ensembl chr 8:53,544,892...53,555,153 		JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:53,384,656...53,468,067 		JBrowse link
G Cd3d CD3 delta subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:54,184,573...54,190,112
Ensembl chr 8:54,175,155...54,196,722 		JBrowse link
G Cd3e CD3 epsilon subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:54,200,617...54,211,770
Ensembl chr 8:54,200,617...54,211,876 		JBrowse link
G Cd3g CD3 gamma subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:54,177,572...54,184,087
Ensembl chr 8:54,177,977...54,183,918 		JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,632,777...53,639,661
Ensembl chr 8:53,632,044...53,639,650 		JBrowse link
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:54,967,621...55,031,264
Ensembl chr 8:54,967,621...55,031,206 		JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,738,878...53,756,813
Ensembl chr 8:53,740,197...53,754,816 		JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,827,661...53,864,538
Ensembl chr 8:53,827,835...53,860,977 		JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,560,869...53,567,625
Ensembl chr 8:53,555,239...53,567,898 		JBrowse link
G Drc12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:44,576,528...44,584,345
Ensembl chr 8:53,472,849...53,486,567 		JBrowse link
G Dscaml1 DS cell adhesion molecule-like 1 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:45,740,298...46,057,322
Ensembl chr 8:54,636,932...54,954,040 		JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,760,587...44,768,696
Ensembl chr 8:53,657,256...53,669,629 		JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:54,609,658...54,616,788
Ensembl chr 8:54,609,658...54,616,957 		JBrowse link
G Fxyd6 FXYD domain-containing ion transport regulator 6 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:45,679,054...45,705,958
Ensembl chr 8:54,575,591...54,602,715 		JBrowse link
G Grik4 glutamate ionotropic receptor kainate type subunit 4 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:51,802,045...52,228,751
Ensembl chr 8:51,802,058...52,102,063 		JBrowse link
G H2ax H2A.X variant histone ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,568,718...53,570,072
Ensembl chr 8:53,568,281...53,573,079 		JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:53,525,576...53,541,101
Ensembl chr 8:53,527,236...53,540,555 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:53,570,364...53,577,802 		JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,602,882...53,614,998
Ensembl chr 8:53,602,604...53,614,997 		JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:53,984,242...54,000,836 		JBrowse link
G Il10ra interleukin 10 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Inflammatory bowel disease 28 		OMIM
CTD
ClinVar		 PMID:1635567 PMID:8490660 PMID:9536098 PMID:14602880 PMID:15546002 More... NCBI chr 8:54,459,754...54,474,786
Ensembl chr 8:54,459,882...54,475,028 		JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,384,836...45,415,459
Ensembl chr 8:54,281,644...54,313,500 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:54,013,547...54,089,219
Ensembl chr 8:54,013,547...54,089,317 		JBrowse link
G Mcam melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:44,479,391...44,487,575
Ensembl chr 8:53,376,197...53,384,406 		JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:53,342,483...53,347,696
Ensembl chr 8:53,342,534...53,347,861 		JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:54,243,556...54,256,074 		JBrowse link
G Mpzl3 myelin protein zero-like 3 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,360,475...45,380,662
Ensembl chr 8:54,257,226...54,279,665 		JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:52,998,662...53,061,745
Ensembl chr 8:52,998,662...53,086,664 		JBrowse link
G Nherf4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:44,584,390...44,588,838
Ensembl chr 8:53,481,012...53,485,661 		JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:53,486,866...53,503,498
Ensembl chr 8:53,486,867...53,503,523 		JBrowse link
G Oaf out at first homolog ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:52,491,314...52,509,285
Ensembl chr 8:52,491,315...52,509,285 		JBrowse link
G Pafah1b2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:46,260,069...46,312,073
Ensembl chr 8:55,156,779...55,176,836 		JBrowse link
G Pcsk7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:55,098,821...55,121,416
Ensembl chr 8:55,098,806...55,121,382 		JBrowse link
G Phldb1 pleckstrin homology-like domain, family B, member 1 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,900,338...53,948,325
Ensembl chr 8:53,900,338...53,949,518 		JBrowse link
G Pou2f3 POU class 2 homeobox 3 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:52,392,363...52,474,756
Ensembl chr 8:52,392,497...52,474,756 		JBrowse link
G Rnf214 ring finger protein 214 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:55,057,434...55,098,753
Ensembl chr 8:55,060,595...55,099,003 		JBrowse link
G Rnf26 ring finger protein 26 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:53,351,388...53,353,586
Ensembl chr 8:53,341,487...53,355,777 		JBrowse link
G Rps25 ribosomal protein s25 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,630,333...53,632,810
Ensembl chr 8:53,629,861...53,632,808
Ensembl chr 8:53,629,861...53,632,808 		JBrowse link
G Sc5d sterol-C5-desaturase ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:51,526,669...51,538,277
Ensembl chr 8:51,529,346...51,538,277 		JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:54,322,383...54,334,519
Ensembl chr 8:54,322,383...54,334,519 		JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:54,343,873...54,359,046
Ensembl chr 8:54,334,548...54,359,047 		JBrowse link
G Sidt2 SID1 transmembrane family, member 2 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:55,129,091...55,146,446
Ensembl chr 8:55,129,091...55,145,408 		JBrowse link
G Sik3 SIK family kinase 3 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:55,208,969...55,419,138
Ensembl chr 8:55,208,815...55,419,138 		JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,619,952...53,626,110
Ensembl chr 8:53,620,141...53,626,110 		JBrowse link
G Sorl1 sortilin related receptor 1 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:51,238,713...51,401,458
Ensembl chr 8:51,238,722...51,401,446 		JBrowse link
G Tagln transgelin ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:55,121,647...55,127,121
Ensembl chr 8:55,121,301...55,127,563 		JBrowse link
G Tbcel tubulin folding cofactor E-like ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:51,692,660...51,751,560
Ensembl chr 8:51,694,930...51,751,560 		JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:51,604,974...51,676,745
Ensembl chr 8:51,604,975...51,676,722 		JBrowse link
G Thy1 Thy-1 cell surface antigen ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:53,286,396...53,291,541
Ensembl chr 8:53,286,148...53,291,540 		JBrowse link
G Tlcd5 TLC domain containing 5 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:43,481,388...43,486,288
Ensembl chr 8:52,375,988...52,383,260 		JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,107,116...45,112,657
Ensembl chr 8:54,003,907...54,009,325 		JBrowse link
G Tmprss13 transmembrane serine protease 13 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:45,625,759...45,653,943
Ensembl chr 8:54,522,443...54,550,670 		JBrowse link
G Tmprss4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,475,819...45,508,409
Ensembl chr 8:54,372,805...54,405,157 		JBrowse link
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:53,625,474...53,630,241 		JBrowse link
G Treh trehalase ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:53,886,946...53,900,335 		JBrowse link
G Trim29 tripartite motif-containing 29 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:52,579,175...52,603,919
Ensembl chr 8:52,579,175...52,603,919 		JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,112,737...45,116,345
Ensembl chr 8:54,009,522...54,013,129 		JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:54,132,801...54,174,835 		JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,779,198...44,781,190
Ensembl chr 8:53,675,994...53,677,986 		JBrowse link
G Usp2 ubiquitin specific peptidase 2 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:28492532 NCBI chr 8:53,308,264...53,336,800
Ensembl chr 8:53,308,303...53,336,794 		JBrowse link
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,684,129...44,698,568
Ensembl chr 8:53,580,939...53,595,377 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      gastrointestinal system disease 7168
        intestinal disease 3134
          inflammatory bowel disease 488
            inflammatory bowel disease 28 72
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                inflammatory bowel disease 28 72
paths to the root