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, sub-family B member 1A
susceptibility
IMP
RGD
PMID:21788941
RGD:8657143
NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575
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Acadm
acyl-Coenzyme A dehydrogenase, medium chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18806098
NCBI chr 3:153,627,990...153,650,280
Ensembl chr 3:153,627,994...153,650,269
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Akr1a1
aldo-keto reductase family 1, member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18806098
NCBI chr 4:116,493,707...116,508,871
Ensembl chr 4:116,493,707...116,508,877
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Aldh2
aldehyde dehydrogenase 2, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18806098
NCBI chr 5:121,704,090...121,731,887
Ensembl chr 5:121,704,090...121,731,887
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Becn1
beclin 1, autophagy related
ISO
protein:increased expression:intestine
RGD
PMID:20539009
RGD:6483081
NCBI chr11:101,179,084...101,193,112
Ensembl chr11:101,176,778...101,193,112
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Bnip3
BCL2/adenovirus E1B interacting protein 3
ISO
protein:increased expression:ileum
RGD
PMID:16002567
RGD:11561971
NCBI chr 7:138,492,565...138,511,235
Ensembl chr 7:138,492,565...138,511,248
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Cd14
CD14 antigen
disease_progression
ISO
protein:increased expression:small intestine
RGD
PMID:19824106 PMID:19824106
RGD:4144091 , RGD:4144091
NCBI chr18:36,858,117...36,859,868
Ensembl chr18:36,858,120...36,859,851
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Cd40
CD40 antigen
ISO
protein:decreased expression:ileum
RGD
PMID:21240009
RGD:5490305
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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Cd40lg
CD40 ligand
ISO
protein:decreased expression:ileum
RGD
PMID:21240009
RGD:5490305
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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Cryl1
crystallin, lambda 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18806098
NCBI chr14:57,512,491...57,635,940
Ensembl chr14:57,512,450...57,635,986
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Egf
epidermal growth factor
treatment
ISO
RGD
PMID:19390485 PMID:18607263
RGD:2317627 , RGD:10395236
NCBI chr 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965
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Eno1
enolase 1, alpha non-neuron
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18806098
NCBI chr 4:150,321,165...150,333,336
Ensembl chr 4:150,321,178...150,333,336
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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 chr18:36,637,980...36,648,858
Ensembl chr18:36,637,980...36,648,858
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Hspa9
heat shock protein 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18806098
NCBI chr18:35,070,467...35,087,404
Ensembl chr18:35,070,467...35,087,410
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Ikbkg
inhibitor of kappaB kinase gamma
treatment
ISO
RGD
PMID:17426653
RGD:12791281
NCBI chr X:73,436,883...73,498,013
Ensembl chr X:73,436,896...73,497,460
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Il10
interleukin 10
treatment
ISO IMP
RGD
PMID:23783008 PMID:22450025
RGD:7365018 , RGD:11049491
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Il10rb
interleukin 10 receptor, beta
ISO
protein:increased expression:ileum
RGD
PMID:21240009
RGD:5490305
NCBI chr16:91,203,166...91,222,718
Ensembl chr16:91,203,052...91,222,722
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Il18
interleukin 18
IMP ISO
protein:increased expression:ileum protein:increased expression:liver
RGD
PMID:17947451 PMID:21240009 PMID:12529262 PMID:12032269
RGD:4889475 , RGD:5490305 , RGD:4889473 , RGD:729222
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Il1b
interleukin 1 beta
ISO
RGD
PMID:23158403
RGD:7175550
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il6
interleukin 6
treatment
ISO
RGD
PMID:20501441
RGD:2324672
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Lgals2
lectin, galactose-binding, soluble 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18806098
NCBI chr15:78,735,060...78,739,729
Ensembl chr15:78,735,060...78,739,729
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Ltf
lactotransferrin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16640825
NCBI chr 9:110,848,360...110,871,834
Ensembl chr 9:110,848,339...110,871,835
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Map3k5
mitogen-activated protein kinase kinase kinase 5
ISO
protein:increased expression:intestine:
RGD
PMID:20716917
RGD:10412640
NCBI chr10:19,809,847...20,018,496
Ensembl chr10:19,810,218...20,018,499
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Muc2
mucin 2
ISO
mRNA:decreased expression:ileum
RGD
PMID:20501441
RGD:2324672
NCBI chr 7:141,276,583...141,308,428
Ensembl chr 7:141,276,583...141,308,430
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Nod2
nucleotide-binding oligomerization domain containing 2
IMP
RGD
PMID:20580721
RGD:8547529
NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102
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Nos2
nitric oxide synthase 2, inducible
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17923197
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
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Nos3
nitric oxide synthase 3, endothelial cell
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23650378
NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
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Oat
ornithine aminotransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18806098
NCBI chr 7:132,159,204...132,178,127
Ensembl chr 7:132,159,207...132,178,127
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Park7
Parkinson disease (autosomal recessive, early onset) 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18806098
NCBI chr 4:150,981,590...150,994,378
Ensembl chr 4:150,981,590...150,998,894
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Parp1
poly (ADP-ribose) polymerase family, member 1
severity
ISO
protein:increased expression:intestinal mucosa
RGD
PMID:21399558 PMID:21399558
RGD:10413911 , RGD:10413911
NCBI chr 1:180,396,456...180,428,564
Ensembl chr 1:180,396,489...180,428,819
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Plaur
plasminogen activator, urokinase receptor
ISO
protein:increased expression:plasma
RGD
PMID:1304722
RGD:6483787
NCBI chr 7:24,161,857...24,175,393
Ensembl chr 7:24,161,909...24,175,393
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Ptafr
platelet-activating factor receptor
treatment
ISO
RGD
PMID:17515866
RGD:9999208
NCBI chr 4:132,291,378...132,309,994
Ensembl chr 4:132,291,378...132,309,994
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Snai3
snail family zinc finger 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18806098
NCBI chr 8:123,180,943...123,187,546
Ensembl chr 8:123,180,947...123,187,472
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Sod2
superoxide dismutase 2, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18806098
NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
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Sord
sorbitol dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18806098
NCBI chr 2:122,065,320...122,095,818
Ensembl chr 2:122,065,230...122,095,821
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Tjp1
tight junction protein 1
ISO
protein:increased expression:liver
RGD
PMID:19390485
RGD:2317627
NCBI chr 7:64,945,913...65,177,629
Ensembl chr 7:64,945,913...65,177,529
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Tlr1
toll-like receptor 1
ISO
mRNA:increased expression:ileum
RGD
PMID:19608731
RGD:5128779
NCBI chr 5:65,082,023...65,090,945
Ensembl chr 5:65,082,022...65,090,906
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Tlr2
toll-like receptor 2
ISO
mRNA:increased expression:ileum
RGD
PMID:19608731
RGD:5128779
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tlr3
toll-like receptor 3
ISO
mRNA:increased expression:ileum (rat)
RGD
PMID:19608731
RGD:5128779
NCBI chr 8:45,848,702...45,864,112
Ensembl chr 8:45,848,702...45,864,117
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Tlr4
toll-like receptor 4
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 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Tlr5
toll-like receptor 5
ISO
mRNA:decreased expression:ileum (rat)
RGD
PMID:19608731
RGD:5128779
NCBI chr 1:182,782,317...182,804,010
Ensembl chr 1:182,782,353...182,804,010
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Tlr6
toll-like receptor 6
ISO
mRNA:increased expression:ileum
RGD
PMID:19608731
RGD:5128779
NCBI chr 5:65,109,373...65,128,387
Ensembl chr 5:65,109,374...65,117,440
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Tlr7
toll-like receptor 7
ISO
mRNA:increased expression:ileum
RGD
PMID:19608731
RGD:5128779
NCBI chr X:166,086,376...166,113,570
Ensembl chr X:166,087,925...166,113,554
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Tlr9
toll-like receptor 9
ISO
mRNA:increased expression:ileum (rat)
RGD
PMID:19608731
RGD:5128779
NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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Tnf
tumor necrosis factor
ISO
protein:increased expression:serum (rat); protein:increased expression:intestine (human) mRNA:increased expression:ileum (rat)
RGD
PMID:19824106 PMID:20501441 PMID:16269520
RGD:4144091 , RGD:2324672 , RGD:1580205
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tubb5
tubulin, beta 5 class I
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18806098
NCBI chr17:36,144,812...36,149,193
Ensembl chr17:36,144,813...36,149,198
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