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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:Perisylvian Syndrome
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Accession:DOID:9003520 term browser browse the term
Synonyms:exact_synonym: BPP;   BPPX;   CBPS;   Congenital bilateral perisylvian syndrome;   PMGX;   POLYMICROGYRIA, BILATERAL PERISYLVIAN, X-LINKED;   Polymicrogyria, bilateral perisylvian
 narrow_synonym: BPPR;   POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE;   bilateral perisylvian polymicrogyria with autosomal recessive inheritance
 primary_id: MESH:C536658;   RDO:0002301
 alt_id: OMIM:300388;   OMIM:615752
For additional species annotation, visit the Alliance of Genome Resources.


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Perisylvian Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg1 adhesion G protein-coupled receptor G1 ISO OMIM NCBI chr19:10,423,534...10,460,674
Ensembl chr19:10,423,501...10,460,674
JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr 4:159,674,885...159,697,207
Ensembl chr 4:159,674,885...159,697,207
JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome ClinVar PMID:25741868 NCBI chr 7:140,637,287...140,640,953
Ensembl chr 7:140,637,287...140,640,953
JBrowse link
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis ClinVar
OMIM
PMID:25741868 PMID:25855803 PMID:26752647 NCBI chr11:87,858,323...87,975,549
Ensembl chr11:87,858,453...87,973,422
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      Perisylvian Syndrome 4
        POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS 1
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            autosomal genetic disease 4875
              autosomal dominant disease 3160
                complex cortical dysplasia with other brain malformations 716
                  Malformations of Cortical Development, Group III 20
                    Polymicrogyria 14
                      Perisylvian Syndrome 4
                        POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS 1
paths to the root