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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 ClinVar Annotator: match by OMIM:611087
ClinVar Annotator: match by term: Polyhydramnios, megalencephaly, and symptomatic epilepsy
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17522105 PMID:17576681 PMID:20424326 PMID:25741868 PMID:27170158 PMID:28492532 PMID:29358611 NCBI chr10:94,355,369...94,384,404
Ensembl chr10:94,355,384...94,384,339
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        central nervous system disease 10352
          brain disease 9711
            epilepsy 2152
              Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 1
Path 2
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        genetic disease 8941
          monogenic disease 7120
            autosomal genetic disease 6275
              autosomal dominant disease 4449
                complex cortical dysplasia with other brain malformations 1183
                  Malformations of Cortical Development, Group I 1042
                    Macrocephaly 65
                      Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 1
paths to the root