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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:polyhydramnios
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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:657.0;   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 CUNH12orf60 chromosome unknown C12orf60 homolog ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:30311386 NCBI chrNW_004936587:2,650,860...2,651,996 JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO 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 chrNW_004936477:21,591,772...21,606,289 JBrowse link
G Gldn gliomedin ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:25741868, PMID:28726266 NCBI chrNW_004936471:13,234,478...13,294,306 JBrowse link
G Gucy2c guanylate cyclase 2C ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:30311386 NCBI chrNW_004936587:2,742,911...2,811,139 JBrowse link
G Igf2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9349812 NCBI chrNW_004936816:972,902...981,232 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 chrNW_004936794:707,122...994,206 JBrowse link
G Klf1 Kruppel like factor 1 ISO ClinVar Annotator: match by term: Hydramnios ClinVar PMID:30311386 NCBI chrNW_004936659:1,946,614...1,950,003 JBrowse link
G Lnpep leucyl and cystinyl aminopeptidase ISO associated with Diabetes Mellitus RGD PMID:1789335 RGD:2311543 NCBI chrNW_004936523:6,443,571...6,533,122 JBrowse link
G Mtm1 myotubularin 1 ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:25741868 NCBI chrNW_004936714:1,792,893...1,870,338 JBrowse link
G Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:30311386 NCBI chrNW_004936478:22,255,887...22,389,477 JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Hydramnios ClinVar PMID:30311386 NCBI chrNW_004936737:400,819...446,768 JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:30311386 NCBI chrNW_004936527:6,907,723...7,168,222 JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO 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 chrNW_004936602:1,089,979...1,114,376 JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Hydramnios ClinVar PMID:28492532, PMID:30311386 NCBI chrNW_004936801:1,185,615...1,298,416 JBrowse link
G Sh3bp4 SH3 domain binding protein 4 ISO ClinVar Annotator: match by term: Hydramnios ClinVar PMID:30311386 NCBI chrNW_004936525:2,693,828...2,757,480 JBrowse link
G Slc26a3 solute carrier family 26 member 3 ISO ClinVar Annotator: match by term: Hydramnios ClinVar PMID:9718329, PMID:18216024, PMID:21332001, PMID:30311386 NCBI chrNW_004936479:16,350,746...16,374,911 JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Hydramnios ClinVar PMID:30311386 NCBI chrNW_004936472:10,599,717...10,605,187 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 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, PMID:30311386 NCBI chrNW_004936474:7,407,622...7,478,950 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 chrNW_004936474:7,375,439...7,407,318 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 ISO OMIM NCBI chrNW_004936541:4,352,613...4,385,499 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11938
    disease of anatomical entity 11499
      Urogenital Diseases 3480
        Female Urogenital Diseases and Pregnancy Complications 1736
          Pregnancy Complications 509
            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 11938
    disease of anatomical entity 11499
      Urogenital Diseases 3480
        Female Urogenital Diseases and Pregnancy Complications 1736
          Female Urogenital Diseases 1466
            female reproductive system disease 1462
              uterine disease 421
                placenta disease 56
                  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

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