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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:bilateral perisylvian polymicrogyria
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Accession:DOID:0080924 term browser browse the term
Definition:A polymicrogyria that is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure and that has_material_basis_in homozygous deletion of one 15-bp tandem repeat in a regulatory region of exon 1m of the ADGRG1 gene on chromosome 16q21. (DO)
Synonyms:exact_synonym: BPP;   BPPX;   CBPS;   Congenital bilateral perisylvian syndrome;   PMGX;   POLYMICROGYRIA, BILATERAL PERISYLVIAN, X-LINKED;   Perisylvian Syndrome
 narrow_synonym: BPPR;   POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE;   bilateral perisylvian polymicrogyria with autosomal recessive inheritance
 primary_id: MESH:C536658
 alt_id: DOID:9003520;   OMIM:300388;   OMIM:615752
 xref: GARD:6011;   ORDO:98889
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
bilateral perisylvian polymicrogyria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg1 adhesion G protein-coupled receptor G1 ISO ClinVar Annotator: match by term: Polymicrogyria, bilateral perisylvian, autosomal recessive OMIM
ClinVar
PMID:25741868 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 PMID:28492532 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 17014
    syndrome 7758
      bilateral perisylvian polymicrogyria 4
        POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS 1
Path 2
Term Annotations click to browse term
  disease 17014
    Developmental Disease 10686
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9164
        genetic disease 8677
          monogenic disease 6660
            autosomal genetic disease 5814
              autosomal dominant disease 4101
                complex cortical dysplasia with other brain malformations 1167
                  Malformations of Cortical Development, Group III 23
                    polymicrogyria 17
                      bilateral perisylvian polymicrogyria 4
                        POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS 1
paths to the root