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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:placenta disease
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Accession:DOID:780 term browser browse the term
Definition:Pathological processes or abnormal functions of the PLACENTA.
Synonyms:exact_synonym: Placenta Disorder;   Placenta Disorders;   Placental Disease;   Placental Diseases;   placenta diseases
 primary_id: MESH:D010922;   RDO:0004698
 xref: GARD:7402;   ICD10CM:O43;   ICD10CM:O43.9;   ICD10CM:O43.90;   ICD9CM:646.9;   NCI:C26857;   NCI:C27619;   NCI:C34941;   NCI:C35169
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
placenta disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12087403 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Prss8 serine protease 8 ISO CTD Direct Evidence: therapeutic CTD PMID:24722141 NCBI chr 1:199,372,519...199,377,035
Ensembl chr 1:199,372,519...199,377,035
JBrowse link
G Spint2 serine peptidase inhibitor, Kunitz type, 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24722141 NCBI chr 1:87,199,373...87,221,826
Ensembl chr 1:87,199,313...87,221,892
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16007645 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
chorioamnionitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor ISO RGD PMID:22578261 RGD:6767308 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:villous trophoblast RGD PMID:12700199 RGD:12904022 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21493953 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G 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 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Lta lymphotoxin alpha severity ISO associated with Premature Birth;DNA:SNP:promoter:250G>A (human) RGD PMID:15128916 RGD:12904055 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:polymorphism:exon:p.G54D(human) RGD PMID:15723707 RGD:12910932 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:12712078 RGD:13204828 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Tgfb1 transforming growth factor, beta 1 severity ISO protein:increased expression:amniotic fluid RGD PMID:19332995 RGD:4145137 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G 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 chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G 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 9:14,727,887...14,743,371
Ensembl chr 9:14,727,976...14,809,447
JBrowse link
choriocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf8 fibroblast growth factor 8 ISO testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
JBrowse link
G Igf2 insulin-like growth factor 2 disease_progression ISO RGD PMID:17556377 RGD:2290454 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Insr insulin receptor disease_progression ISO RGD PMID:17556377 RGD:2290454 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO DNA, protein:hypermethylation, decreased expression:promoter, placenta RGD PMID:15507671 RGD:2290418 NCBI chr 7:23,543,125...23,594,170
Ensembl chr 7:23,544,215...23,594,133
JBrowse link
Kniest Like Dysplasia Lethal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:11279527 PMID:24088041 PMID:24781210 PMID:25504735 PMID:25741868 PMID:25803036 PMID:26467025 PMID:26508570 PMID:26633545 PMID:28242392 PMID:28492532 PMID:29271572 PMID:29901129 NCBI chr 5:155,812,096...155,913,751 JBrowse link
G Ldlrad2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:155,914,517...155,922,269
Ensembl chr 5:155,914,735...155,916,893
JBrowse link
oligohydramnios term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Inf2 inverted formin 2 ISO ClinVar Annotator: match by term: Oligohydramnios ClinVar PMID:25741868 NCBI chr 6:137,162,593...137,180,198
Ensembl chr 6:137,164,535...137,177,622
JBrowse link
G Pdgfa platelet derived growth factor subunit A IEP mRNA, protein:increased expression:lung RGD PMID:17519529 RGD:2292203 NCBI chr12:17,734,141...17,756,186
Ensembl chr12:17,734,133...17,755,285
JBrowse link
G Pdgfb platelet derived growth factor subunit B IEP mRNA, protein:increased expression:lung RGD PMID:17519529 RGD:2292203 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha IEP mRNA:increased expression:lung RGD PMID:17519529 RGD:2292203 NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta IEP mRNA:increased expression:lung RGD PMID:17519529 RGD:2292203 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
JBrowse link
G Pdpn podoplanin IEP mRNA, protein:decreased expression:lung RGD PMID:11839536 RGD:2292243 NCBI chr 5:161,947,137...161,981,441
Ensembl chr 5:161,947,137...161,981,441
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Oligohydramnios ClinVar PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 PMID:15108277 PMID:15108281 PMID:15696446 PMID:15805161 PMID:16133180 PMID:16199545 PMID:19914852 PMID:20413436 PMID:21274727 PMID:25124979 PMID:25741868 PMID:26695994 PMID:28375157 PMID:28492532 PMID:33532864 NCBI chr 9:26,164,969...26,736,704 JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Oligohydramnios ClinVar PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:28492532 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
placental abruption term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bhmt betaine-homocysteine S-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17376725 NCBI chr 2:23,236,573...23,256,158
Ensembl chr 2:23,236,575...23,256,158
JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15633187 NCBI chr 6:99,282,850...99,350,367
Ensembl chr 6:99,282,850...99,350,340
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11354626 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa susceptibility ISO RGD PMID:9855597 RGD:11564329 NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
JBrowse link
placental insufficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtr1a angiotensin II receptor, type 1a IEP mRNA, protein:increased expression:placenta RGD PMID:20621762 RGD:5147460 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 IEP mRNA, protein:altered expression:hippocampus (rat) RGD PMID:20662593 RGD:4890445 NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
JBrowse link
G Emp2 epithelial membrane protein 2 ISS MouseDO NCBI chr10:5,433,248...5,467,840
Ensembl chr10:5,433,248...5,467,839
JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:20809703 RGD:10400897 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Gjb3 gap junction protein, beta 3 ISO RGD PMID:11237463 RGD:12436730 NCBI chr 5:145,390,590...145,397,271
Ensembl chr 5:145,391,311...145,392,123
JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 IEP mRNA, protein:altered expression:hippocampus (rat) RGD PMID:19144756 RGD:2326049 NCBI chr 3:2,507,745...2,534,664
Ensembl chr 3:2,506,896...2,534,663
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A IEP protein:decreased expression:hippocampus (rat) RGD PMID:19144756 RGD:2326049 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B IEP protein:increased expression:hippocampus (rat) RGD PMID:19144756 RGD:2326049 NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
JBrowse link
G Itga2 integrin subunit alpha 2 IEP mRNA:decreased expression:placenta (rat) RGD PMID:20621762 RGD:5147460 NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Pdx1 pancreatic and duodenal homeobox 1 IEP mRNA:increased expression:placenta (rat) RGD PMID:17893880 RGD:2311215 NCBI chr12:9,496,044...9,501,211
Ensembl chr12:9,496,044...9,501,213
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP mRNA, protein:decreased expression:gastrocnemius muscle (rat) RGD PMID:18319353 RGD:10059693 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:plasma: RGD PMID:26903689 RGD:11557202 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
polyhydramnios term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gldn gliomedin ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:25741868 PMID:27616481 PMID:28726266 PMID:31680349 NCBI chr 8:58,870,516...58,914,605
Ensembl chr 8:58,870,516...58,914,603
JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9349812 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:15781747 PMID:15840476 PMID:19716085 PMID:19841300 PMID:22581653 PMID:22949429 PMID:23392653 PMID:24033266 PMID:24947509 PMID:25741868 PMID:25854863 PMID:26546361 PMID:27831900 PMID:28492532 NCBI chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
JBrowse link
G Lnpep leucyl and cystinyl aminopeptidase ISO associated with Diabetes Mellitus RGD PMID:1789335 RGD:2311543 NCBI chr 1:59,289,392...59,384,540
Ensembl chr 1:59,297,294...59,347,472
Ensembl chr 1:59,297,294...59,347,472
JBrowse link
G Mtm1 myotubularin 1 ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:25741868 NCBI chr 6:18,821,821...18,840,449
Ensembl chr 6:18,821,815...18,839,409
JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:25741868 PMID:30244526 PMID:31680349 NCBI chr19:55,305,494...55,367,680
Ensembl chr19:55,305,496...55,367,353
JBrowse link
G Slc26a3 solute carrier family 26 member 3 ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:9718329 PMID:21394828 PMID:25741868 PMID:31680349 NCBI chr 6:50,725,085...50,766,306
Ensembl chr 6:50,725,085...50,766,300
JBrowse link
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Strada STE20 related adaptor alpha ISO ClinVar Annotator: match by term: Polyhydramnios, megalencephaly, and symptomatic epilepsy
ClinVar Annotator: match by OMIM:611087
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17522105 PMID:17576681 PMID:20424326 PMID:25741868 PMID:27170158 PMID:28492532 PMID:29358611 NCBI chr10:94,355,369...94,384,404
Ensembl chr10:94,355,384...94,384,339
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      reproductive system disease 2727
        female reproductive system disease 1727
          uterine disease 475
            placenta disease 49
              Retained Placenta 0
              chorioamnionitis + 10
              chorioangioma 0
              oligohydramnios + 8
              placenta accreta 0
              placenta cancer + 6
              placenta praevia + 0
              placental abruption 4
              placental insufficiency 12
              polyhydramnios + 10
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      Urogenital Diseases 4320
        Female Urogenital Diseases and Pregnancy Complications 2030
          Female Urogenital Diseases 1731
            female reproductive system disease 1727
              uterine disease 475
                placenta disease 49
                  Retained Placenta 0
                  chorioamnionitis + 10
                  chorioangioma 0
                  oligohydramnios + 8
                  placenta accreta 0
                  placenta cancer + 6
                  placenta praevia + 0
                  placental abruption 4
                  placental insufficiency 12
                  polyhydramnios + 10
paths to the root