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: perinatal necrotizing enterocolitis
Accession: DOID:8677
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Definition: ENTEROCOLITIS with extensive ulceration (ULCER) and NECROSIS. It is observed primarily in LOW BIRTH WEIGHT INFANT.
Synonyms: exact_synonym: NEC; necrotizing enterocolitis; necrotizing enterocolitis in fetus or newborn; perinatal necrotising enterocolitis; pseudomembranous enterocolitis in newborn
primary_id: MESH:D020345
xref: EFO:0003928 ; ICD10CM:K55.3 ; ICD10CM:K55.30
For additional species annotation, visit the
Alliance of Genome Resources .
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Abcb1a
ATP binding cassette subfamily B member 1A
susceptibility
ISO
RGD
PMID:21788941
RGD:8657143
NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709
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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
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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
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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
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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
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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
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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
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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
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Cd40lg
CD40 ligand
IEP
protein:decreased expression:ileum
RGD
PMID:21240009
RGD:5490305
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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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
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Egf
epidermal growth factor
treatment
IDA
RGD
PMID:19390485 PMID:18607263
RGD:2317627 , RGD:10395236
NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
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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 Ensembl chr 3:160,719,951...160,731,336
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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
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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
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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
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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
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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
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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
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Il1b
interleukin 1 beta
IDA
RGD
PMID:23158403
RGD:7175550
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
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Il6
interleukin 6
treatment
IEP
RGD
PMID:20501441
RGD:2324672
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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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
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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
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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
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Muc2
mucin 2, oligomeric mucus/gel-forming
IEP
mRNA:decreased expression:ileum
RGD
PMID:20501441
RGD:2324672
NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756
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Nod2
nucleotide-binding oligomerization domain containing 2
ISO
RGD
PMID:20580721
RGD:8547529
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17923197
NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210
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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
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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
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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
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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
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Plaur
plasminogen activator, urokinase receptor
ISO
protein:increased expression:plasma
RGD
PMID:1304722
RGD:6483787
NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595
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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
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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
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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
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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
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Tjp1
tight junction protein 1
IEP
protein:increased expression:liver
RGD
PMID:19390485
RGD:2317627
NCBI chr 1:128,260,330...128,505,018
Ensembl chr 1:118,849,838...119,094,432
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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
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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
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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
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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
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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
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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
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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
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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
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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 chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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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
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