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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.



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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 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17574631 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il1a interleukin 1 alpha IEP RGD PMID:8144001 RGD:2311103 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il1b interleukin 1 beta IEP mRNA:increased expression:cecum (rat) RGD PMID:8144001 RGD:2311103 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Itgb2 integrin subunit beta 2 ISO associated with Hirschsprung Disease;DNA:polymorphisms:multiple RGD PMID:18675632 RGD:6482226 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
JBrowse link
G Klkb1 kallikrein B1 IEP
IMP
RGD PMID:9783057 PMID:9783057 RGD:7327138, RGD:7327138 NCBI chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053
JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25217960 NCBI chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248
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 6:21,120,947...21,141,720
Ensembl chr 6:21,120,947...21,141,432
JBrowse link
G Memo1 mediator of cell motility 1 ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 6:21,144,525...21,234,363
Ensembl chr 6:21,125,639...21,234,561
JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO ClinVar Annotator: match by term: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS
ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis
ClinVar Annotator: match by OMIM:616050
ClinVar
OMIM
PMID:24033266 PMID:25217959 PMID:25217960 PMID:25385754 PMID:25741868 More... NCBI chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248
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 6:21,020,931...21,050,785
Ensembl chr 6:21,020,931...21,050,785
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954
JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112
JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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 7:721,809...723,923
Ensembl chr 7:721,809...723,923
JBrowse link
G Il33 interleukin 33 treatment
severity
ISO RGD PMID:32156806 PMID:32156806 RGD:40400894, RGD:40400894 NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18806098 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147
JBrowse link
G Akr1a1 aldo-keto reductase family 1 member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18806098 NCBI chr 5:130,092,945...130,130,277
Ensembl chr 5:130,092,732...130,113,674
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:18806098 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
JBrowse link
G Becn1 beclin 1 ISO protein:increased expression:intestine RGD PMID:20539009 RGD:6483081 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
JBrowse link
G Bnip3 BCL2 interacting protein 3 ISO protein:increased expression:ileum RGD PMID:16002567 RGD:11561971 NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359
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 chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
JBrowse link
G Cd40 CD40 molecule IEP protein:decreased expression:ileum RGD PMID:21240009 RGD:5490305 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cd40lg CD40 ligand IEP protein:decreased expression:ileum RGD PMID:21240009 RGD:5490305 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cryl1 crystallin, lambda 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18806098 NCBI chr15:31,427,011...31,545,997
Ensembl chr15:31,427,054...31,545,997
JBrowse link
G Egf epidermal growth factor treatment IDA RGD PMID:19390485 PMID:18607263 RGD:2317627, RGD:10395236 NCBI chr 2:218,219,408...218,302,370
Ensembl chr 2:218,219,415...218,302,064
JBrowse link
G Eno1 enolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18806098 NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336
JBrowse link
G Hbegf heparin-binding EGF-like growth factor treatment ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:16567187 PMID:18607263 RGD:10395236 NCBI chr18:28,106,284...28,116,167
Ensembl chr18:28,105,760...28,116,441
JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18806098 NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma treatment IDA RGD PMID:17426653 RGD:12791281 NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499
JBrowse link
G Il10 interleukin 10 treatment IDA
ISO
RGD PMID:23783008 PMID:22450025 RGD:7365018, RGD:11049491 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il10rb interleukin 10 receptor subunit beta IEP protein:increased expression:ileum RGD PMID:21240009 RGD:5490305 NCBI chr11:30,646,494...30,668,081
Ensembl chr11:30,652,096...30,668,074
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 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il1b interleukin 1 beta IDA RGD PMID:23158403 RGD:7175550 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il6 interleukin 6 treatment IEP RGD PMID:20501441 RGD:2324672 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Lgals2 galectin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18806098 NCBI chr 7:110,403,171...110,410,046
Ensembl chr 7:110,403,173...110,404,802
JBrowse link
G Ltf lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16640825 NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795
JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 ISO protein:increased expression:intestine: RGD PMID:20716917 RGD:10412640 NCBI chr 1:14,685,776...14,904,935
Ensembl chr 1:14,685,492...14,904,800
JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming IEP mRNA:decreased expression:ileum RGD PMID:20501441 RGD:2324672 NCBI chr 1:196,796,257...196,831,740
Ensembl chr 1:196,799,517...196,831,756
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO RGD PMID:20580721 RGD:8547529 NCBI chr19:18,379,720...18,422,817
Ensembl chr19:18,382,439...18,417,177
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17923197 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23650378 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Oat ornithine aminotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18806098 NCBI chr 1:187,347,862...187,367,644
Ensembl chr 1:187,347,865...187,367,682
JBrowse link
G Park7 Parkinsonism associated deglycase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18806098 NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970
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 chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
JBrowse link
G Plaur plasminogen activator, urokinase receptor ISO protein:increased expression:plasma RGD PMID:1304722 RGD:6483787 NCBI chr 1:80,053,441...80,068,384
Ensembl chr 1:80,050,324...80,068,595
JBrowse link
G Ptafr platelet-activating factor receptor treatment IDA RGD PMID:17515866 RGD:9999208 NCBI chr 5:144,765,770...144,795,057
Ensembl chr 5:144,765,976...144,795,251
JBrowse link
G Snai3 snail family transcriptional repressor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18806098 NCBI chr19:50,516,771...50,529,295
Ensembl chr19:50,516,771...50,523,486
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18806098 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Sord sorbitol dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18806098 NCBI chr 3:109,184,697...109,216,133
Ensembl chr 3:109,184,676...109,216,133
JBrowse link
G Tjp1 tight junction protein 1 IEP protein:increased expression:liver RGD PMID:19390485 RGD:2317627 NCBI chr 1:118,849,838...119,094,492
Ensembl chr 1:118,849,838...119,094,432
JBrowse link
G Tlr1 toll-like receptor 1 IEP mRNA:increased expression:ileum RGD PMID:19608731 RGD:5128779 NCBI chr14:43,384,127...43,396,765
Ensembl chr14:43,384,932...43,397,125
JBrowse link
G Tlr2 toll-like receptor 2 IEP mRNA:increased expression:ileum RGD PMID:19608731 RGD:5128779 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tlr3 toll-like receptor 3 IEP mRNA:increased expression:ileum (rat) RGD PMID:19608731 RGD:5128779 NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
JBrowse link
G Tlr4 toll-like receptor 4 IEP
ISO
mRNA:increased expression:ileum
CTD Direct Evidence: marker/mechanism
protein:increased expression:ileum
CTD
RGD
PMID:23650378 PMID:19608731 PMID:21240009 RGD:5128779, RGD:5490305 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tlr5 toll-like receptor 5 IEP mRNA:decreased expression:ileum (rat) RGD PMID:19608731 RGD:5128779 NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
JBrowse link
G Tlr6 toll-like receptor 6 IEP mRNA:increased expression:ileum RGD PMID:19608731 RGD:5128779 NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685
JBrowse link
G Tlr7 toll-like receptor 7 IEP mRNA:increased expression:ileum RGD PMID:19608731 RGD:5128779 NCBI chr  X:27,027,380...27,054,309
Ensembl chr  X:27,027,425...27,054,754
JBrowse link
G Tlr9 toll-like receptor 9 IEP mRNA:increased expression:ileum (rat) RGD PMID:19608731 RGD:5128779 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
JBrowse link
G Tnf tumor necrosis factor IEP
IDA
protein:increased expression:serum
mRNA:increased expression:ileum (rat)
RGD PMID:19824106 PMID:20501441 PMID:16269520 RGD:4144091, RGD:2324672, RGD:1580205 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tubb5 tubulin, beta 5 class I ISO CTD Direct Evidence: marker/mechanism CTD PMID:18806098 NCBI chr20:2,912,779...2,916,928
Ensembl chr20:2,912,778...2,916,940
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      gastrointestinal system disease 6237
        intestinal disease 2629
          Enterocolitis 62
            Autoinflammation with Infantile Enterocolitis 7
            Clostridium difficile colitis 2
            Neutropenic Enterocolitis 1
            perinatal necrotizing enterocolitis 46
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      Immune & Inflammatory Diseases 4049
        Inflammation 2356
          gastroenteritis 484
            Enterocolitis 62
              Autoinflammation with Infantile Enterocolitis 7
              Clostridium difficile colitis 2
              Neutropenic Enterocolitis 1
              perinatal necrotizing enterocolitis 46
paths to the root