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
broad_synonym: SERPINH1-RELATED CONDITION
primary_id: MESH:C563032
alt_id: MIM:610504
xref: MONDO:0012511
G
F3
coagulation factor III, tissue factor
ISO
protein:increased expression:plasma
RGD
PMID:19012190
RGD:11340215
NCBI chr 6:54,709,581...54,720,603
Ensembl chr 6:54,708,471...54,720,607
G
MMP1
matrix metallopeptidase 1
ISO
ClinVar Annotator: match by term: Preterm premature rupture of the membranes
ClinVar
NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648
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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 5:29,036,381...29,047,180
Ensembl chr 5:29,035,820...29,046,808
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SERPINH1
serpin family H member 1
ISO
ClinVar Annotator: match by term: Preterm premature rupture of the membranes | ClinVar Annotator: match by term: SERPINH1-related condition
ClinVar OMIM
PMID:16938879 PMID:25741868 PMID:28492532 PMID:32161841 PMID:37270749
NCBI chr21:23,032,761...23,041,649
Ensembl chr21:23,032,767...23,041,625
G
TFPI
tissue factor pathway inhibitor
ISO
protein:decreased expression:plasma
RGD
PMID:19012190
RGD:11340215
NCBI chr36:29,457,131...29,546,455
Ensembl chr36:29,459,371...29,511,310
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