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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 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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13400
    disease of anatomical entity 12876
      nervous system disease 10435
        central nervous system disease 8798
          brain disease 8137
            epilepsy 1512
              Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 1
Path 2
Term Annotations click to browse term
  disease 13400
    Developmental Diseases 9395
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8206
        genetic disease 7743
          monogenic disease 5664
            autosomal genetic disease 4689
              autosomal dominant disease 3022
                complex cortical dysplasia with other brain malformations 749
                  Malformations of Cortical Development, Group I 606
                    Macrocephaly 84
                      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.