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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 C12H12orf60 chromosome 12 C12orf60 homolog ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:30311386 NCBI chr12:14,828,266...14,830,706 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 chr 4:1,933,172...1,948,742 JBrowse link
G GLDN gliomedin ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:25741868, PMID:28726266 NCBI chr15:30,285,743...30,352,403
Ensembl chr15:48,619,452...48,685,616
JBrowse link
G GUCY2C guanylate cyclase 2C ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:30311386 NCBI chr12:14,608,794...14,687,190
Ensembl chr12:15,008,099...15,091,647
JBrowse link
G IGF2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9349812 NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890
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 chr11:2,469,750...2,874,467 JBrowse link
G KLF1 Kruppel like factor 1 ISO ClinVar Annotator: match by term: Hydramnios ClinVar PMID:30311386 NCBI chr19:12,446,130...12,449,238
Ensembl chr19:13,188,652...13,191,425
JBrowse link
G LNPEP leucyl and cystinyl aminopeptidase ISO associated with Diabetes Mellitus RGD PMID:1789335 RGD:2311543 NCBI chr 5:92,247,060...92,348,900
Ensembl chr 5:97,842,110...97,893,876
JBrowse link
G MTM1 myotubularin 1 ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:25741868 NCBI chr  X:140,218,742...140,323,495
Ensembl chr  X:150,174,758...150,255,381
JBrowse link
G PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:30311386 NCBI chr 7:48,451,329...48,596,991
Ensembl chr 7:48,545,432...48,701,736
JBrowse link
G PRDM16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Hydramnios ClinVar PMID:30311386 NCBI chr 1:1,730,122...2,100,636
Ensembl chr 1:2,981,667...3,234,251
JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:30311386 NCBI chr 7:143,143,556...143,463,492
Ensembl chr 7:155,293,748...155,610,078
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 chr 3:12,510,084...12,590,598
Ensembl chr 3:12,853,415...12,932,871
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Hydramnios ClinVar PMID:28492532, PMID:30311386 NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327
JBrowse link
G SH3BP4 SH3 domain binding protein 4 ISO ClinVar Annotator: match by term: Hydramnios ClinVar PMID:30311386 NCBI chr2B:122,179,431...122,284,430
Ensembl chr2B:241,089,624...241,149,524
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 chr 7:99,747,405...99,776,763
Ensembl chr 7:112,470,041...112,507,671
JBrowse link
G ZIC2 Zic family member 2 ISO ClinVar Annotator: match by term: Hydramnios ClinVar PMID:30311386 NCBI chr13:81,151,669...81,156,648 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 chr 1:21,014,951...21,129,937
Ensembl chr 1:21,979,504...22,053,400
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 1:21,005,437...21,014,421
Ensembl chr 1:21,969,991...21,980,470
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 chr17:57,783,114...57,822,056
Ensembl chr17:62,929,065...62,967,021
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12749
    disease of anatomical entity 12279
      Urogenital Diseases 3650
        Female Urogenital Diseases and Pregnancy Complications 1816
          Pregnancy Complications 547
            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 12749
    disease of anatomical entity 12279
      Urogenital Diseases 3650
        Female Urogenital Diseases and Pregnancy Complications 1816
          Female Urogenital Diseases 1521
            female reproductive system disease 1517
              uterine disease 442
                placenta disease 58
                  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.