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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;   CDCBM14B;   Congenital bilateral perisylvian syndrome;   PMGX;   POLYMICROGYRIA, BILATERAL PERISYLVIAN, X-LINKED;   Perisylvian Syndrome;   complex cortical dysplasia with other brain malformations 14B, (bilateral perisylvian)
 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


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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 chr19:10,003,963...10,041,122
Ensembl chr19:10,003,975...10,041,108 		JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495 		JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome ClinVar PMID:25741868 PMID:33649541 NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186 		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 Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis ClinVar PMID:1971144 PMID:2014036 PMID:2564729 PMID:8533759 PMID:9101291 More... NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130 		JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis OMIM
ClinVar		 PMID:25741868 PMID:25855803 PMID:26752647 PMID:28492532 PMID:34415310 More... NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    syndrome 10725
      bilateral perisylvian polymicrogyria 5
        POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS 2
Path 2
Term Annotations click to browse term
  disease 21122
    Developmental Disease 18454
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18314
        genetic disease 18258
          monogenic disease 10240
            autosomal genetic disease 9385
              autosomal dominant disease 6164
                complex cortical dysplasia with other brain malformations 1575
                  Malformations of Cortical Development, Group III 23
                    polymicrogyria 17
                      bilateral perisylvian polymicrogyria 5
                        POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS 2
paths to the root