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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 placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac. (DO)
Synonyms:exact_synonym: Hydramnios
 primary_id: MESH:D006831
 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 Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More... NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510 		JBrowse link
G Gldn gliomedin ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:25741868 PMID:27616481 PMID:28726266 PMID:31680349 NCBI chr 8:54,679,015...54,723,198
Ensembl chr 8:54,679,119...54,723,196 		JBrowse link
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:25741868 PMID:27055666 PMID:31680349 NCBI chr 8:33,912,692...33,921,760
Ensembl chr 8:33,912,692...33,921,760 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9349812 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:1984130 PMID:2654361 PMID:15781747 PMID:15840476 PMID:19716085 More... NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669 		JBrowse link
G Lnpep leucyl and cystinyl aminopeptidase ISO associated with Diabetes Mellitus RGD PMID:1789335 RGD:2311543 NCBI chr 1:58,258,642...58,355,532
Ensembl chr 1:58,258,642...58,354,544 		JBrowse link
G Mtm1 myotubularin 1 ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:25741868 NCBI chr 6:488,923...506,882
Ensembl chr 6:488,969...506,860 		JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:25741868 PMID:28492532 PMID:30244526 PMID:31680349 NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501 		JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:25741868 PMID:27055666 PMID:31680349 NCBI chr 8:33,910,461...33,918,716
Ensembl chr 8:33,911,357...33,918,714 		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:28492532 PMID:31680349 More... NCBI chr 6:48,023,892...48,064,829
Ensembl chr 6:48,023,892...48,064,772 		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:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 More... NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594 		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 5:149,778,795...149,788,335
Ensembl chr 5:149,779,675...149,787,140 		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 ClinVar Annotator: match by term: PMSE SYNDROME | ClinVar Annotator: match by term: Polyhydramnios, megalencephaly, and symptomatic epilepsy
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17522105 PMID:17576681 PMID:20424326 More... NCBI chr10:91,094,849...91,123,890
Ensembl chr10:91,094,687...91,123,830 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      Urogenital Diseases 5375
        Female Urogenital Diseases and Pregnancy Complications 2652
          Pregnancy Complications 803
            polyhydramnios 13
              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 19099
    disease of anatomical entity 18440
      Urogenital Diseases 5375
        Female Urogenital Diseases and Pregnancy Complications 2652
          Female Urogenital Diseases 2178
            female reproductive system disease 2175
              uterine disease 512
                placenta disease 58
                  polyhydramnios 13
                    Chronic Idiopathic Polyhydramnios 0
                    Circumvallate Placenta Syndrome 0
                    Kniest Like Dysplasia Lethal 2
                    polyhydramnios, megalencephaly, and symptomatic epilepsy 1
paths to the root