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ONTOLOGY REPORT - ANNOTATIONS


Term:Polymicrogyria
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Accession:DOID:9004861 term browser browse the term
Definition:Heterogeneous disorders of cortical malformation characterized by excessive and small fused gyri and shallow sulci of the CORTEX with abnormal cortical lamination. It is considered a malformation secondary to abnormal post-migrational development of the neurons during cerebral cortical development and is associated with EPILEPSY and learning difficulties.
Synonyms:exact_synonym: Cerebral Micropolygyria;   Cerebral Micropolygyrias;   Cerebral Polymicrogyria;   Cerebral Polymicrogyrias;   Micropolygyria;   Micropolygyrias;   Polymicrogyrias
 primary_id: MESH:D065706;   RDO:0015982
For additional species annotation, visit the Alliance of Genome Resources.


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Polymicrogyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt3 AKT serine/threonine kinase 3 JBrowse link 13 95,076,308 95,348,913 RGD:8554872
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 JBrowse link 13 90,651,682 90,676,629 RGD:8554872
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:8554872
G Ehmt1 euchromatic histone lysine methyltransferase 1 JBrowse link 3 1,966,974 2,123,858 RGD:8554872
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 JBrowse link 1 259,692,020 259,818,922 RGD:8554872
G Lama2 laminin subunit alpha 2 JBrowse link 1 18,491,264 19,143,486 RGD:8554872
G Lama5 laminin subunit alpha 5 JBrowse link 3 175,553,042 175,601,112 RGD:8554872
G Lingo4 leucine rich repeat and Ig domain containing 4 JBrowse link 2 195,617,044 195,643,502 RGD:8554872
G Scn3a sodium voltage-gated channel alpha subunit 3 JBrowse link 3 51,530,897 51,643,140 RGD:8554872
G Wdr62 WD repeat domain 62 JBrowse link 1 90,995,545 91,034,592 RGD:11541050
Asymmetric Polymicrogyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubb2b tubulin, beta 2B class IIb JBrowse link 17 31,441,640 31,444,687 RGD:8554872
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rttn rotatin JBrowse link 18 86,071,884 86,247,486 RGD:7240710
RGD:8554872
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 with or without Vascular-Type Ehlers-Danlos Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:7240710
RGD:8554872
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 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        Nervous System Malformations 741
          complex cortical dysplasia with other brain malformations 481
            Malformations of Cortical Development, Group III 22
              Polymicrogyria 16
                Asymmetric Polymicrogyria 1
                MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES 1
                Perisylvian Syndrome + 3
                Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                complex cortical dysplasia with other brain malformations 481
                  Malformations of Cortical Development, Group III 22
                    Polymicrogyria 16
                      Asymmetric Polymicrogyria 1
                      MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES 1
                      Perisylvian Syndrome + 3
                      Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome 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.