Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:polyhydramnios
go back to main search page
Accession:DOID:8488 term browser browse the term
Definition:A condition of abnormally high AMNIOTIC FLUID volume, such as greater than 2,000 ml in the LAST TRIMESTER and usually diagnosed by ultrasonographic criteria (AMNIOTIC FLUID INDEX). It is associated with maternal DIABETES MELLITUS; MULTIPLE PREGNANCY; CHROMOSOMAL DISORDERS; and congenital abnormalities.
Synonyms:exact_synonym: Hydramnios
 primary_id: MESH:D006831;   RDO:0001977
 xref: ICD10CM:O40;   ICD9CM:657;   ICD9CM:657.0;   NCI:C92848
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
polyhydramnios term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C12orf60 chromosome 12 open reading frame 60 IAGP ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:30311386 NCBI chr12:14,567,991...14,824,415
Ensembl chr12:14,803,666...14,906,586
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:8589699, PMID:10471491, PMID:11038465, PMID:11879084, PMID:15772091, PMID:17384684, PMID:19381019, PMID:19749790, PMID:25157968, PMID:25606676, PMID:25741868, PMID:26619011, PMID:28492532, PMID:30311386 NCBI chr 4:1,793,293...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G GLDN gliomedin IAGP ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:25741868, PMID:28726266 NCBI chr15:51,341,655...51,413,365
Ensembl chr15:51,341,655...51,408,005
JBrowse link
G GUCY2C guanylate cyclase 2C IAGP ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:30311386 NCBI chr12:14,612,632...14,696,625
Ensembl chr12:14,612,632...14,696,599
JBrowse link
G IGF2 insulin like growth factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9349812 NCBI chr11:2,129,112...2,149,603
Ensembl chr11:2,129,112...2,141,238
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP 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 chr11:2,445,008...2,849,110
Ensembl chr11:2,444,684...2,849,105
Ensembl chr11:2,444,684...2,849,105
JBrowse link
G KLF1 Kruppel like factor 1 IAGP ClinVar Annotator: match by term: Hydramnios ClinVar PMID:30311386 NCBI chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201
JBrowse link
G LNPEP leucyl and cystinyl aminopeptidase IEP associated with Diabetes Mellitus RGD PMID:1789335 RGD:2311543 NCBI chr 5:96,934,859...97,037,513
Ensembl chr 5:96,935,394...97,037,513
JBrowse link
G MTM1 myotubularin 1 IAGP ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:25741868 NCBI chr  X:150,562,658...150,673,143
Ensembl chr  X:150,568,619...150,673,322
Ensembl chr  X:150,568,619...150,673,322
JBrowse link
G PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting IAGP ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:30311386 NCBI chr 7:47,774,603...47,958,913
Ensembl chr 7:47,740,202...47,948,466
Ensembl chr 7:47,740,202...47,948,466
JBrowse link
G PRDM16 PR/SET domain 16 IAGP ClinVar Annotator: match by term: Hydramnios ClinVar PMID:30311386 NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621
JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 IAGP ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:30311386 NCBI chr 7:151,556,124...151,877,115
Ensembl chr 7:151,556,124...151,877,125
JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Hydramnios ClinVar PMID:1760348, PMID:10064593, PMID:16523510, PMID:17603482, PMID:17603483, PMID:19437094, PMID:19568997, PMID:19953625, PMID:20052757, PMID:20876176, PMID:21396583, PMID:21440552, PMID:21784453, PMID:22389993, PMID:22826437, PMID:23312806, PMID:23321623, PMID:23613113, PMID:23877478, PMID:24033266, PMID:24775816, PMID:24777450, PMID:25706034, PMID:25741868, PMID:26446362, PMID:26619011, PMID:26903553, PMID:28492532, PMID:29084544, PMID:29493581, PMID:30311386 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,583,601...12,664,226
JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Hydramnios ClinVar PMID:28492532, PMID:30311386 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
JBrowse link
G SH3BP4 SH3 domain binding protein 4 IAGP ClinVar Annotator: match by term: Hydramnios ClinVar PMID:30311386 NCBI chr 2:234,952,017...235,055,714
Ensembl chr 2:234,952,017...235,055,714
JBrowse link
G SLC26A3 solute carrier family 26 member 3 IAGP ClinVar Annotator: match by term: Hydramnios ClinVar PMID:9718329, PMID:18216024, PMID:21332001, PMID:30311386 NCBI chr 7:107,765,469...107,803,223
Ensembl chr 7:107,765,467...107,803,225
JBrowse link
G ZIC2 Zic family member 2 IAGP ClinVar Annotator: match by term: Hydramnios ClinVar PMID:30311386 NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765
JBrowse link
Kniest Like Dysplasia Lethal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSPG2 heparan sulfate proteoglycan 2 IAGP 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, PMID:30311386 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
JBrowse link
G LDLRAD2 low density lipoprotein receptor class A domain containing 2 IAGP ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:25504735, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:21,812,209...21,825,225
Ensembl chr 1:21,812,265...21,825,225
JBrowse link
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STRADA STE20 related adaptor alpha IAGP ClinVar Annotator: match by term: Polyhydramnios, megalencephaly, and symptomatic epilepsy ClinVar
OMIM
PMID:17522105, PMID:20424326, PMID:25741868, PMID:27170158, PMID:28492532 NCBI chr17:63,702,832...63,741,986
Ensembl chr17:63,682,336...63,741,986
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 16335
      Urogenital Diseases 4523
        Female Urogenital Diseases and Pregnancy Complications 2027
          Pregnancy Complications 591
            polyhydramnios 20
              Chronic Idiopathic Polyhydramnios 0
              Circumvallate Placenta Syndrome 0
              Kniest Like Dysplasia Lethal 2
              Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 1
Path 2
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 16335
      Urogenital Diseases 4523
        Female Urogenital Diseases and Pregnancy Complications 2027
          Female Urogenital Diseases 1703
            female reproductive system disease 1699
              uterine disease 479
                placenta disease 59
                  polyhydramnios 20
                    Chronic Idiopathic Polyhydramnios 0
                    Circumvallate Placenta Syndrome 0
                    Kniest Like Dysplasia Lethal 2
                    Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.