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: Fetal Membranes, Premature Rupture
Accession: DOID:9005304
browse the term
Definition: Spontaneous tearing of the membranes surrounding the FETUS any time before the onset of OBSTETRIC LABOR. Preterm PROM is membrane rupture before 37 weeks of GESTATION.
Synonyms: exact_synonym: Membrane Premature Rupture (Pregnancy); Membrane Premature Ruptures (Pregnancy); PROM (Pregnancy); Premature Rupture of Fetal Membranes; Premature Rupture of Membrane (Pregnancy)
primary_id: MESH:D005322 ; RDO:0005206
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Ager
advanced glycosylation end product-specific receptor
ISO
RGD
PMID:22578261
RGD:6767308
NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078
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Fas
Fas cell surface death receptor
ISO
protein:increased expression:villous trophoblast
RGD
PMID:12700199
RGD:12904022
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
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Il1a
interleukin 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21493953
NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822
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Il6
interleukin 6
ISO
protein:increased expression:plasma protein:increased expression: cervicovaginal fluid : associated with Premature Birth;protein:increased expression:tracheal aspirate fluid:
RGD
PMID:15547537 PMID:25687566 PMID:25011638
RGD:5128667 , RGD:12792243 , RGD:12791291
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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Lta
lymphotoxin alpha
severity
ISO
associated with Premature Birth;DNA:SNP:promoter:250G>A (human)
RGD
PMID:15128916
RGD:12904055
NCBI chr20:3,622,291...3,625,852
Ensembl chr20:3,618,853...3,620,859
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Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:polymorphism:exon:p.G54D(human)
RGD
PMID:15723707
RGD:12910932
NCBI chr 1:237,429,873...237,465,567
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Mmp9
matrix metallopeptidase 9
severity
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:12712078
RGD:13204828
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
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Tgfb1
transforming growth factor, beta 1
severity
ISO
protein:increased expression:amniotic fluid
RGD
PMID:19332995
RGD:4145137
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
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Tnf
tumor necrosis factor
no_association severity
ISO
associated with Premature Birth;DNA:SNP:promoter:c.-308 G>A (human) associated with Premature Birth;DNA:SNP:promoter:c.-238G>A (human)
RGD
PMID:15128916 PMID:15128916
RGD:12904055 , RGD:12904055
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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Trem1
triggering receptor expressed on myeloid cells 1
ISO
associated with Premature Obstetric Labor;protein:increased expression:amniotic fluid:
RGD
PMID:19591072
RGD:127229904
NCBI chr 9:20,259,227...20,276,879
Ensembl chr 9:12,763,819...12,779,203
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F3
coagulation factor III, tissue factor
ISO
protein:increased expression:plasma
RGD
PMID:19012190
RGD:11340215
NCBI chr 2:212,511,675...212,523,375
Ensembl chr 2:209,826,959...209,838,668
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Mmp1
matrix metallopeptidase 1
ISO
ClinVar Annotator: match by term: Preterm premature rupture of the membranes
ClinVar
NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097
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Mmp8
matrix metallopeptidase 8
ISO
ClinVar Annotator: match by term: Preterm premature rupture of the membranes
ClinVar
PMID:15367487
NCBI chr 8:13,008,873...13,018,729
Ensembl chr 8:4,724,029...4,733,520
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Serpinh1
serpin family H member 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Preterm premature rupture of the membranes | ClinVar Annotator: match by term: SERPINH1-related condition
CTD OMIM ClinVar
PMID:16938879 PMID:25741868 PMID:28492532 PMID:32161841 PMID:37270749
NCBI chr 1:163,055,630...163,063,177
Ensembl chr 1:153,643,510...153,650,801
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Tfpi
tissue factor pathway inhibitor
ISO
protein:decreased expression:plasma
RGD
PMID:19012190
RGD:11340215
NCBI chr 3:89,939,862...89,989,253
Ensembl chr 3:69,533,156...69,576,880
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