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: preterm premature rupture of the membranes
Accession: DOID:0111144
browse the term
Definition: A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation. (DO)
Synonyms: exact_synonym: PPROM; preterm PROM (pregnancy); preterm premature rupture of fetal membranes
primary_id: MESH:C563032
alt_id: OMIM:610504
xref: MONDO:0012511
G
F3
coagulation factor III, tissue factor
IEP
protein:increased expression:plasma
RGD
PMID:19012190
RGD:11340215
NCBI chr 1:94,529,173...94,541,759
Ensembl chr 1:94,529,173...94,541,759
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MMP1
matrix metallopeptidase 1
IAGP
ClinVar Annotator: match by term: Preterm premature rupture of the membranes
ClinVar
NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
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MMP8
matrix metallopeptidase 8
IAGP
ClinVar Annotator: match by term: Preterm premature rupture of the membranes
ClinVar
PMID:15367487
NCBI chr11:102,711,796...102,724,954
Ensembl chr11:102,711,796...102,727,050
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SERPINH1
serpin family H member 1
susceptibility
IAGP EXP
ClinVar Annotator: match by term: Preterm premature rupture of the membranes CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:16938879 PMID:25741868 PMID:28492532 PMID:32161841
NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,562,056...75,572,783
G
TFPI
tissue factor pathway inhibitor
IEP
protein:decreased expression:plasma
RGD
PMID:19012190
RGD:11340215
NCBI chr 2:187,464,230...187,554,435
Ensembl chr 2:187,464,230...187,565,760
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