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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:Enterocolitis
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Accession:DOID:9002805 term browser browse the term
Definition:Inflammation of the MUCOSA of both the SMALL INTESTINE and the LARGE INTESTINE. Etiology includes ISCHEMIA, infections, allergic, and immune responses.
Synonyms:exact_synonym: enterocolitides
 primary_id: MESH:D004760
 alt_id: OMIM:226150
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Enterocolitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 treatment ISO associated with cancers; RGD PMID:16710025 RGD:14398729 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17574631 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il1a interleukin 1 alpha IEP RGD PMID:8144001 RGD:2311103 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta IEP mRNA:increased expression:cecum (rat) RGD PMID:8144001 RGD:2311103 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Itgb2 integrin subunit beta 2 ISO associated with Hirschsprung Disease;DNA:polymorphisms:multiple RGD PMID:18675632 RGD:6482226 NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
JBrowse link
G Klkb1 kallikrein B1 IEP
IMP
RGD PMID:9783057, PMID:9783057 RGD:7327138, RGD:7327138 NCBI chr16:50,151,127...50,175,407
Ensembl chr16:50,152,008...50,175,458
JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25217960 NCBI chr 6:22,167,874...22,194,755
Ensembl chr 6:22,167,919...22,194,250
JBrowse link
Autoinflammation with Infantile Enterocolitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpy30 dpy-30 histone methyltransferase complex regulatory subunit ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 6:22,296,128...22,316,894
Ensembl chr 6:22,296,128...22,316,894
JBrowse link
G Memo1 mediator of cell motility 1 ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 6:22,362,483...22,409,583
Ensembl chr 6:22,362,484...22,409,579
JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO ClinVar Annotator: match by OMIM:616050
ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis
ClinVar Annotator: match by term: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS
ClinVar
OMIM
PMID:24033266, PMID:25217959, PMID:25217960, PMID:25385754, PMID:25741868, PMID:27974463, PMID:28492532, PMID:29778503 NCBI chr 6:22,167,874...22,194,755
Ensembl chr 6:22,167,919...22,194,250
JBrowse link
G Slc30a6 solute carrier family 30 member 6 ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 6:22,197,003...22,226,364
Ensembl chr 6:22,197,040...22,226,421
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 6:22,230,067...22,282,166
Ensembl chr 6:22,230,928...22,281,886
JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 6:25,279,635...25,315,501
Ensembl chr 6:25,279,626...25,315,511
JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
JBrowse link
Clostridium difficile colitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il23a interleukin 23 subunit alpha severity ISO RGD PMID:26455347 RGD:11097134 NCBI chr 7:2,710,609...2,712,723
Ensembl chr 7:2,710,609...2,712,723
JBrowse link
G Il33 interleukin 33 treatment
severity
ISO RGD PMID:32156806, PMID:32156806 RGD:40400894, RGD:40400894 NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
JBrowse link
Neutropenic Enterocolitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1b interleukin 1 beta IEP protein:increased expression:small intestine (rat) RGD PMID:23228325 RGD:7204427 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
perinatal necrotizing enterocolitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A susceptibility ISO RGD PMID:21788941 RGD:8657143 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18806098 NCBI chr 2:260,124,418...260,148,589
Ensembl chr 2:260,124,418...260,148,589
JBrowse link
G Akr1a1 aldo-keto reductase family 1 member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18806098 NCBI chr 5:135,482,068...135,498,693
Ensembl chr 5:135,482,068...135,498,822
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:18806098 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Becn1 beclin 1 ISO protein:increased expression:intestine RGD PMID:20539009 RGD:6483081 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
JBrowse link
G Bnip3 BCL2 interacting protein 3 ISO protein:increased expression:ileum RGD PMID:16002567 RGD:11561971 NCBI chr 1:211,248,098...211,265,282
Ensembl chr 1:211,248,098...211,265,282
JBrowse link
G Cd14 CD14 molecule disease_progression ISO
IDA
protein:increased expression:small intestine RGD PMID:19824106, PMID:19824106 RGD:4144091, RGD:4144091 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Cd40 CD40 molecule IEP protein:decreased expression:ileum RGD PMID:21240009 RGD:5490305 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand IEP protein:decreased expression:ileum RGD PMID:21240009 RGD:5490305 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cryl1 crystallin, lambda 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18806098 NCBI chr15:37,543,727...37,663,586
Ensembl chr15:37,543,727...37,663,584
JBrowse link
G Egf epidermal growth factor treatment IDA RGD PMID:19390485, PMID:18607263 RGD:2317627, RGD:10395236 NCBI chr 2:68,820,616...68,895,537 JBrowse link
G Eno1 enolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18806098 NCBI chr 5:167,288,223...167,299,610
Ensembl chr 5:167,288,223...167,299,609
JBrowse link
G Hbegf heparin-binding EGF-like growth factor treatment ISO CTD Direct Evidence: therapeutic CTD PMID:16567187, PMID:18607263 RGD:10395236 NCBI chr18:29,330,302...29,340,185
Ensembl chr18:29,329,764...29,340,403
JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18806098 NCBI chr18:27,731,072...27,749,235
Ensembl chr18:27,731,072...27,749,235
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma treatment IDA RGD PMID:17426653 RGD:12791281 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
G Il10 interleukin 10 treatment IDA
ISO
RGD PMID:23783008, PMID:22450025 RGD:7365018, RGD:11049491 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il10rb interleukin 10 receptor subunit beta IEP protein:increased expression:ileum RGD PMID:21240009 RGD:5490305 NCBI chr11:31,560,301...31,582,457
Ensembl chr11:31,560,530...31,582,457
JBrowse link
G Il18 interleukin 18 ISO
IEP
protein:increased expression:ileum
protein:increased expression:liver
RGD PMID:17947451, PMID:21240009, PMID:12032269, PMID:12529262 RGD:4889475, RGD:5490305, RGD:729222, RGD:4889473 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1b interleukin 1 beta IDA RGD PMID:23158403 RGD:7175550 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Lgals2 galectin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18806098 NCBI chr 7:120,071,122...120,077,612
Ensembl chr 7:120,071,124...120,077,612
JBrowse link
G Ltf lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16640825 NCBI chr 8:119,290,416...119,313,261
Ensembl chr 8:119,290,416...119,313,261
JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 ISO protein:increased expression:intestine: RGD PMID:20716917 RGD:10412640 NCBI chr 1:15,412,603...15,613,752
Ensembl chr 1:15,412,603...15,613,746
JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming IEP mRNA:decreased expression:ileum RGD PMID:19713473 RGD:2324672 NCBI chr 1:214,663,929...214,693,197 JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO RGD PMID:20580721 RGD:8547529 NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17923197 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23650378 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Oat ornithine aminotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18806098 NCBI chr 1:204,562,289...204,582,070
Ensembl chr 1:204,562,289...204,582,070
JBrowse link
G Park7 Parkinsonism associated deglycase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18806098 NCBI chr 5:167,982,438...168,004,724
Ensembl chr 5:167,982,439...168,004,724
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 severity IEP
ISO
protein:increased expression:intestinal mucosa RGD PMID:21399558, PMID:21399558 RGD:10413911, RGD:10413911 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Plaur plasminogen activator, urokinase receptor ISO protein:increased expression:plasma RGD PMID:1304722 RGD:6483787 NCBI chr 1:81,328,171...81,344,954
Ensembl chr 1:81,328,183...81,344,708
JBrowse link
G Ptafr platelet-activating factor receptor treatment IDA RGD PMID:17515866 RGD:9999208 NCBI chr 5:150,746,284...150,775,675
Ensembl chr 5:150,754,021...150,775,672
JBrowse link
G Snai3 snail family transcriptional repressor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18806098 NCBI chr19:55,276,211...55,290,031
Ensembl chr19:55,277,549...55,284,663
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18806098 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Sord sorbitol dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18806098 NCBI chr 3:114,176,127...114,207,368
Ensembl chr 3:114,176,309...114,207,366
JBrowse link
G Tjp1 tight junction protein 1 IEP protein:increased expression:liver RGD PMID:19390485 RGD:2317627 NCBI chr 1:126,146,489...126,515,359
Ensembl chr 1:126,146,489...126,227,469
JBrowse link
G Tlr1 toll-like receptor 1 IEP mRNA:increased expression:ileum RGD PMID:19608731 RGD:5128779 NCBI chr14:45,062,662...45,065,014
Ensembl chr14:45,062,662...45,081,991
JBrowse link
G Tlr2 toll-like receptor 2 IEP mRNA:increased expression:ileum RGD PMID:19608731 RGD:5128779 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr3 toll-like receptor 3 IEP mRNA:increased expression:ileum (rat) RGD PMID:19608731 RGD:5128779 NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
JBrowse link
G Tlr4 toll-like receptor 4 IEP
ISO
mRNA:increased expression:ileum
CTD Direct Evidence: marker/mechanism
protein:increased expression:ileum
CTD PMID:23650378, PMID:19608731, PMID:21240009 RGD:5128779, RGD:5490305 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr5 toll-like receptor 5 IEP mRNA:decreased expression:ileum (rat) RGD PMID:19608731 RGD:5128779 NCBI chr13:101,364,784...101,385,764
Ensembl chr13:101,381,510...101,385,764
JBrowse link
G Tlr6 toll-like receptor 6 IEP mRNA:increased expression:ileum RGD PMID:19608731 RGD:5128779 NCBI chr14:45,024,351...45,041,188
Ensembl chr14:45,024,351...45,046,446
JBrowse link
G Tlr7 toll-like receptor 7 IEP mRNA:increased expression:ileum RGD PMID:19608731 RGD:5128779 NCBI chr  X:28,486,836...28,513,004
Ensembl chr  X:28,486,869...28,512,957
JBrowse link
G Tlr9 toll-like receptor 9 IEP mRNA:increased expression:ileum (rat) RGD PMID:19608731 RGD:5128779 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Tnf tumor necrosis factor IEP
IDA
protein:increased expression:serum RGD PMID:19824106, PMID:16269520 RGD:4144091, RGD:1580205 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tubb5 tubulin, beta 5 class I ISO CTD Direct Evidence: marker/mechanism CTD PMID:18806098 NCBI chr20:3,422,448...3,426,420
Ensembl chr20:3,422,461...3,426,371
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      gastrointestinal system disease 4633
        intestinal disease 1515
          Enterocolitis 61
            Autoinflammation with Infantile Enterocolitis 7
            Clostridium difficile colitis 2
            Neutropenic Enterocolitis 1
            perinatal necrotizing enterocolitis 45
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      Immune & Inflammatory Diseases 3518
        Inflammation 2176
          gastroenteritis 424
            Enterocolitis 61
              Autoinflammation with Infantile Enterocolitis 7
              Clostridium difficile colitis 2
              Neutropenic Enterocolitis 1
              perinatal necrotizing enterocolitis 45
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.