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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, Megalencephaly, and Symptomatic Epilepsy
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Accession:DOID:9006920 term browser browse the term
Synonyms:exact_synonym: PMSE;   PMSE SYNDROME
 primary_id: MESH:C567020;   RDO:0015209
 alt_id: OMIM:611087
For additional species annotation, visit the Alliance of Genome Resources.


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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_004955478:8,082,075...8,116,320
Ensembl chrNW_004955478:8,082,075...8,116,543
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11815
    disease of anatomical entity 11368
      nervous system disease 9308
        central nervous system disease 7884
          brain disease 7291
            epilepsy 1412
              Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 1
Path 2
Term Annotations click to browse term
  disease 11815
    Developmental Diseases 8416
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7381
        genetic disease 6958
          monogenic disease 5157
            autosomal genetic disease 4327
              autosomal dominant disease 2796
                complex cortical dysplasia with other brain malformations 706
                  Malformations of Cortical Development, Group I 574
                    Macrocephaly 78
                      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.