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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 13 34,127,008 34,130,354 RGD:8554872
Brain Small Vessel Disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a2 collagen, type IV, alpha 2 JBrowse link 8 11,312,805 11,449,287 RGD:7240710
RGD:8554872
G Gm32234 predicted gene, 32234 JBrowse link 10 40,454,082 40,466,627 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 88,971,736 89,131,014 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 8 94,974,756 95,014,208 RGD:7240710
G Ccnd2 cyclin D2 JBrowse link 6 127,125,162 127,152,188 RGD:11554173
Polymicrogyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt3 thymoma viral proto-oncogene 3 JBrowse link 1 177,020,076 177,261,781 RGD:8554872
G Atp1a2 ATPase, Na+/K+ transporting, alpha 2 polypeptide JBrowse link 1 172,271,709 172,298,064 RGD:8554872
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 12 110,601,395 110,666,944 RGD:8554872
G Ehmt1 euchromatic histone methyltransferase 1 JBrowse link 2 24,790,769 24,919,643 RGD:8554872
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 JBrowse link 19 40,612,366 40,741,602 RGD:8554872
G Lama2 laminin, alpha 2 JBrowse link 10 26,981,285 27,617,191 RGD:8554872
G Lama5 laminin, alpha 5 JBrowse link 2 180,176,373 180,225,904 RGD:8554872
G Lingo4 leucine rich repeat and Ig domain containing 4 JBrowse link 3 94,399,219 94,404,501 RGD:8554872
G Scn3a sodium channel, voltage-gated, type III, alpha JBrowse link 2 65,457,118 65,567,591 RGD:8554872
G Wdr62 WD repeat domain 62 JBrowse link 7 30,240,138 30,281,908 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 JBrowse link 1 45,311,538 45,349,706 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 16 17,280,351 17,406,314 RGD:8554872
RGD:7240710
porencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a1 collagen, type IV, alpha 1 JBrowse link 8 11,198,423 11,312,889 RGD:8554872
RGD:11554173
RGD:13592920
G Col4a2 collagen, type IV, alpha 2 JBrowse link 8 11,312,805 11,449,287 RGD:8554872
RGD:13450938
RGD:11554173
G Gm32234 predicted gene, 32234 JBrowse link 10 40,454,082 40,466,627 RGD:8554872
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 JBrowse link 4 147,909,753 147,936,776 RGD:8554872
Schizencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a1 collagen, type IV, alpha 1 JBrowse link 8 11,198,423 11,312,889 RGD:8554872
RGD:11554173
G Emx2 empty spiracles homeobox 2 JBrowse link 19 59,458,690 59,465,357 RGD:8554872
RGD:7240710
G Shh sonic hedgehog JBrowse link 5 28,456,840 28,467,101 RGD:8554872
RGD:7240710
G Six3 sine oculis-related homeobox 3 JBrowse link 17 85,613,608 85,626,191 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12524
    disease of anatomical entity 12143
      nervous system disease 9641
        Nervous System Malformations 743
          complex cortical dysplasia with other brain malformations 480
            Malformations of Cortical Development, Group III 23
              Polymicrogyria + 16
              Schizencephaly 4
              porencephaly + 4
Path 2
Term Annotations click to browse term
  disease 12524
    Developmental Diseases 8528
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7298
        genetic disease 6818
          monogenic disease 4568
            autosomal genetic disease 3556
              autosomal dominant disease 2086
                complex cortical dysplasia with other brain malformations 480
                  Malformations of Cortical Development, Group III 23
                    Polymicrogyria + 16
                    Schizencephaly 4
                    porencephaly + 4
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.