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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 6 3,224,277 3,227,653 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 13 110,307,284 110,513,209 RGD:8554872
RGD:7240710
G COL4A2-AS1 COL4A2 antisense RNA 1 JBrowse link 13 110,502,576 110,508,179 RGD:8554872
G COL4A2-AS2 COL4A2 antisense 2 JBrowse link 13 110,456,397 110,463,287 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 70,003,031 70,205,726 RGD:8554872
RGD:7240710
Perisylvian Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADGRG1 adhesion G protein-coupled receptor G1 JBrowse link 16 57,619,535 57,665,567 RGD:7240710
G CCND2 cyclin D2 JBrowse link 12 4,273,762 4,305,353 RGD:11554173
Polymicrogyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AKT3 AKT serine/threonine kinase 3 JBrowse link 1 243,488,233 243,851,079 RGD:8554872
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 JBrowse link 1 160,115,759 160,143,591 RGD:8554872
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 14 101,964,573 102,056,443 RGD:8554872
G EHMT1 euchromatic histone lysine methyltransferase 1 JBrowse link 9 137,619,001 137,836,127 RGD:8554872
G ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 JBrowse link 10 95,710,901 95,877,266 RGD:8554872
G ENTPD1-AS1 ENTPD1 antisense RNA 1 JBrowse link 10 95,753,206 96,090,235 RGD:8554872
G LAMA2 laminin subunit alpha 2 JBrowse link 6 128,883,138 129,516,566 RGD:8554872
G LAMA5 laminin subunit alpha 5 JBrowse link 20 62,309,060 62,367,318 RGD:8554872
G LINGO4 leucine rich repeat and Ig domain containing 4 JBrowse link 1 151,800,264 151,805,419 RGD:8554872
G SCN3A sodium voltage-gated channel alpha subunit 3 JBrowse link 2 165,087,526 165,204,295 RGD:8554872
G WDR62 WD repeat domain 62 JBrowse link 19 36,054,881 36,111,145 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 2 188,974,373 189,012,746 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 22 20,707,691 20,858,812 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 13 110,148,963 110,307,157 RGD:8554872
RGD:11554173
G COL4A2 collagen type IV alpha 2 chain JBrowse link 13 110,307,284 110,513,209 RGD:13450938
RGD:8554872
RGD:11554173
G COL4A2-AS1 COL4A2 antisense RNA 1 JBrowse link 13 110,502,576 110,508,179 RGD:8554872
G COL4A2-AS2 COL4A2 antisense 2 JBrowse link 13 110,456,397 110,463,287 RGD:8554872
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 1 11,934,717 11,975,537 RGD:8554872
Schizencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL4A1 collagen type IV alpha 1 chain JBrowse link 13 110,148,963 110,307,157 RGD:8554872
RGD:11554173
G EMX2 empty spiracles homeobox 2 JBrowse link 10 117,542,445 117,549,546 RGD:8554872
RGD:7240710
G SHH sonic hedgehog signaling molecule JBrowse link 7 155,799,980 155,812,463 RGD:8554872
RGD:7240710
G SIX3 SIX homeobox 3 JBrowse link 2 44,941,702 44,946,071 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16438
    disease of anatomical entity 15414
      nervous system disease 11682
        Nervous System Malformations 791
          complex cortical dysplasia with other brain malformations 517
            Malformations of Cortical Development, Group III 25
              Polymicrogyria + 17
              Schizencephaly 4
              porencephaly + 5
Path 2
Term Annotations click to browse term
  disease 16438
    Developmental Diseases 10241
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8376
        genetic disease 7831
          monogenic disease 5156
            autosomal genetic disease 3919
              autosomal dominant disease 2291
                complex cortical dysplasia with other brain malformations 517
                  Malformations of Cortical Development, Group III 25
                    Polymicrogyria + 17
                    Schizencephaly 4
                    porencephaly + 5
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.