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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;   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 BC049715 cDNA sequence BC049715 ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:30311386 NCBI chr 6:136,828,160...136,841,920
Ensembl chr 6:136,827,626...136,840,662
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 5:33,721,724...33,737,068
Ensembl chr 5:33,721,674...33,737,068
JBrowse link
G Gldn gliomedin ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:25741868, PMID:28726266 NCBI chr 9:54,286,486...54,341,777
Ensembl chr 9:54,286,486...54,341,786
JBrowse link
G Gucy2c guanylate cyclase 2c ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:30311386 NCBI chr 6:136,697,284...136,781,742
Ensembl chr 6:136,697,284...136,781,765
JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9349812 NCBI chr 7:142,650,768...142,666,816
Ensembl chr 7:142,650,766...142,666,816
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 7:143,106,877...143,427,050
Ensembl chr 7:143,106,362...143,427,042
JBrowse link
G Klf1 Kruppel-like factor 1 (erythroid) ISO ClinVar Annotator: match by term: Hydramnios ClinVar PMID:30311386 NCBI chr 8:84,901,982...84,905,291
Ensembl chr 8:84,901,928...84,905,291
Ensembl chr 8:84,901,928...84,905,291
JBrowse link
G Lnpep leucyl/cystinyl aminopeptidase ISO associated with Diabetes Mellitus RGD PMID:1789335 RGD:2311543 NCBI chr17:17,527,723...17,624,489
Ensembl chr17:17,521,410...17,625,050
JBrowse link
G Mtm1 X-linked myotubular myopathy gene 1 ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:25741868 NCBI chr  X:71,210,767...71,315,413
Ensembl chr  X:71,210,767...71,315,691
JBrowse link
G Pkd1l1 polycystic kidney disease 1 like 1 ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:30311386 NCBI chr11:8,825,696...8,974,709
Ensembl chr11:8,826,708...8,973,266
JBrowse link
G Prdm16 PR domain containing 16 ISO ClinVar Annotator: match by term: Hydramnios ClinVar PMID:30311386 NCBI chr 4:154,316,122...154,637,360
Ensembl chr 4:154,316,125...154,636,873
JBrowse link
G Prkag2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:30311386 NCBI chr 5:24,862,735...25,106,282
Ensembl chr 5:24,862,744...25,100,642
JBrowse link
G Raf1 v-raf-leukemia viral oncogene 1 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 6:115,618,569...115,676,635
Ensembl chr 6:115,618,067...115,676,635
JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Hydramnios ClinVar PMID:28492532, PMID:30311386 NCBI chr 7:29,003,340...29,125,179
Ensembl chr 7:29,003,344...29,125,179
JBrowse link
G Sh3bp4 SH3-domain binding protein 4 ISO ClinVar Annotator: match by term: Hydramnios ClinVar PMID:30311386 NCBI chr 1:89,070,333...89,155,087
Ensembl chr 1:89,070,415...89,155,068
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 chr12:31,433,142...31,473,922
Ensembl chr12:31,390,871...31,473,917
JBrowse link
G Zic2 zinc finger protein of the cerebellum 2 ISO ClinVar Annotator: match by term: Hydramnios ClinVar PMID:30311386 NCBI chr14:122,475,384...122,480,328
Ensembl chr14:122,475,435...122,479,852
JBrowse link
Kniest Like Dysplasia Lethal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspg2 perlecan (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 4:137,468,751...137,570,630
Ensembl chr 4:137,468,769...137,570,630
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 4:137,570,875...137,582,118
Ensembl chr 4:137,570,876...137,582,104
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 kinase adaptor alpha ISO ClinVar Annotator: match by OMIM:611087
ClinVar Annotator: match by term: Polyhydramnios, megalencephaly, and symptomatic epilepsy
OMIM
ClinVar
PMID:17522105, PMID:20424326, PMID:25741868, PMID:27170158, PMID:28492532 NCBI chr11:106,162,974...106,193,634
Ensembl chr11:106,163,330...106,202,168
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13332
    disease of anatomical entity 12813
      Urogenital Diseases 3818
        Female Urogenital Diseases and Pregnancy Complications 1874
          Pregnancy Complications 568
            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 13332
    disease of anatomical entity 12813
      Urogenital Diseases 3818
        Female Urogenital Diseases and Pregnancy Complications 1874
          Female Urogenital Diseases 1570
            female reproductive system disease 1566
              uterine disease 455
                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

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