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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Adgrg1 adhesion G protein-coupled receptor G1 JBrowse link 19 10,423,534 10,460,674 RGD:7240710
G Ccnd2 cyclin D2 JBrowse link 4 159,674,885 159,697,207 RGD:11554173
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pi4ka phosphatidylinositol 4-kinase alpha JBrowse link 11 87,858,323 87,975,549 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16021
    syndrome 6144
      Perisylvian Syndrome 3
        POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS 1
Path 2
Term Annotations click to browse term
  disease 16021
    Developmental Diseases 9337
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8165
        genetic disease 7689
          monogenic disease 5447
            autosomal genetic disease 4411
              autosomal dominant disease 2754
                complex cortical dysplasia with other brain malformations 528
                  Malformations of Cortical Development, Group III 19
                    Polymicrogyria 13
                      Perisylvian Syndrome 3
                        POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS 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.