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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 35 3,494,982 3,498,274 RGD:9068941
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 22 58,656,579 58,820,560 RGD:7240710
RGD:9068941
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RTTN rotatin JBrowse link 1 8,180,831 8,326,947 RGD:7240710
RGD:9068941
Perisylvian Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADGRG1 adhesion G protein-coupled receptor G1 JBrowse link 2 58,805,737 58,842,618 RGD:7240710
RGD:9068941
G CCND2 cyclin D2 JBrowse link 27 40,563,306 40,593,362 RGD:9068941
Polymicrogyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AKT3 AKT serine/threonine kinase 3 JBrowse link 7 34,633,064 34,931,112 RGD:9068941
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 JBrowse link 38 22,023,176 22,080,656 RGD:9068941
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 8 69,997,021 70,064,886 RGD:9068941
G EHMT1 euchromatic histone lysine methyltransferase 1 JBrowse link 9 48,031,593 48,110,954 RGD:9068941
G ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 JBrowse link 28 9,181,851 9,311,835 RGD:9068941
G LAMA2 laminin subunit alpha 2 JBrowse link 1 67,645,461 68,096,506 RGD:9068941
G LAMA5 laminin subunit alpha 5 JBrowse link 24 46,315,008 46,351,279 RGD:9068941
G LINGO4 leucine rich repeat and Ig domain containing 4 JBrowse link 17 60,814,948 60,820,517 RGD:9068941
G SCN3A sodium voltage-gated channel alpha subunit 3 JBrowse link 36 10,300,091 10,405,361 RGD:9068941
G WDR62 WD repeat domain 62 JBrowse link 1 116,594,243 116,641,206 RGD:9068941
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 36 30,488,250 30,526,367 RGD:7240710
RGD:9068941
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 26 30,630,693 30,749,158 RGD:7240710
RGD:9068941
porencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL4A1 collagen type IV alpha 1 chain JBrowse link 22 58,511,210 58,651,949 RGD:9068941
G COL4A2 collagen type IV alpha 2 chain JBrowse link 22 58,656,579 58,820,560 RGD:9068941
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 2 84,320,529 84,343,562 RGD:9068941
Schizencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL4A1 collagen type IV alpha 1 chain JBrowse link 22 58,511,210 58,651,949 RGD:9068941
G EMX2 empty spiracles homeobox 2 JBrowse link 28 28,002,966 28,009,955 RGD:7240710
RGD:9068941
G SHH sonic hedgehog signaling molecule JBrowse link 16 18,650,553 18,663,571 RGD:7240710
RGD:9068941
G SIX3 SIX homeobox 3 JBrowse link 10 47,332,875 47,369,359 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12015
    disease of anatomical entity 11666
      nervous system disease 9353
        Nervous System Malformations 731
          complex cortical dysplasia with other brain malformations 471
            Malformations of Cortical Development, Group III 22
              Polymicrogyria + 16
              Schizencephaly 4
              porencephaly + 3
Path 2
Term Annotations click to browse term
  disease 12015
    Developmental Diseases 8275
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7089
        genetic disease 6609
          monogenic disease 4461
            autosomal genetic disease 3474
              autosomal dominant disease 2042
                complex cortical dysplasia with other brain malformations 471
                  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.