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ONTOLOGY REPORT - ANNOTATIONS


Term:Malformations of Cortical Development, Group III
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Accession:DOID:9001684 term browser browse the term
Definition:Cortical malformations secondary to abnormal cortical maturation after CELL MIGRATION in NEUROGENESIS. This group includes injury to the cortex during later stages of cortical development such as POLYMICROGYRIA and focal cortical dysplasias.
Synonyms:exact_synonym: Cortical Malformations, Group III;   Malformations Due to Abnormal Postmigrational Development;   Malformations Secondary to Abnormal Postmigrational Development
 primary_id: MESH:D065704;   RDO:0015981
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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
Brain Small Vessel Disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a2 collagen type IV alpha 2 chain JBrowse link 16 83,386,388 83,522,169 RGD:7240710
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 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
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
porencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a1 collagen type IV alpha 1 chain JBrowse link 16 83,522,162 83,632,153 RGD:8554872
RGD:11554173
G Col4a2 collagen type IV alpha 2 chain JBrowse link 16 83,386,388 83,522,169 RGD:8554872
RGD:13450938
RGD:11554173
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 JBrowse link 5 164,720,629 164,747,071 RGD:8554872
Schizencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a1 collagen type IV alpha 1 chain JBrowse link 16 83,522,162 83,632,153 RGD:8554872
RGD:11554173
G Emx2 empty spiracles homeobox 2 JBrowse link 1 280,633,938 280,640,946 RGD:8554872
RGD:7240710
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:8554872
RGD:7240710
G Six3 SIX homeobox 3 JBrowse link 6 8,886,730 8,891,094 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        Nervous System Malformations 742
          complex cortical dysplasia with other brain malformations 481
            Malformations of Cortical Development, Group III 22
              Polymicrogyria + 16
              Schizencephaly 4
              porencephaly + 3
Path 2
Term Annotations click to browse term
  disease 15626
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        genetic disease 7038
          monogenic disease 4659
            autosomal genetic disease 3619
              autosomal dominant disease 2135
                complex cortical dysplasia with other brain malformations 481
                  Malformations of Cortical Development, Group III 22
                    Polymicrogyria + 16
                    Schizencephaly 4
                    porencephaly + 3
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.