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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Asymmetric Polymicrogyria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb2b tubulin, beta 2B class IIb ISO ClinVar Annotator: match by term: Polymicrogyria, asymmetric ClinVar PMID:11425694 PMID:18414213 PMID:19465910 PMID:22333901 PMID:23001566 PMID:25059107 PMID:25741868 PMID:26732629 NCBI chr17:31,441,640...31,444,687
Ensembl chr17:31,441,630...31,482,759
JBrowse link
Brain Small Vessel Disease 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Porencephaly 2
ClinVar Annotator: match by term: Acquired porencephaly
ClinVar PMID:18077766 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Porencephaly 2
ClinVar Annotator: match by term: Acquired porencephaly
ClinVar Annotator: match by OMIM:614483
OMIM
ClinVar
PMID:22209246 PMID:22209247 PMID:22333902 PMID:22914737 PMID:24390199 PMID:24646874 PMID:25326635 PMID:25653287 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 PMID:30315939 NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Acquired porencephaly ClinVar PMID:25741868 NCBI chr 5:164,720,629...164,747,071
Ensembl chr 5:164,720,587...164,747,083
JBrowse link
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rttn rotatin ISO ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES
ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with or without seizures
ClinVar Annotator: match by term: Polymicrogyria with seizures
ClinVar Annotator: match by OMIM:614833
OMIM
ClinVar
PMID:22939636 PMID:25326635 PMID:25741868 PMID:26608784 PMID:26940245 PMID:28492532 PMID:30121372 NCBI chr18:86,071,884...86,247,486
Ensembl chr18:86,071,662...86,247,486
JBrowse link
Perisylvian Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg1 adhesion G protein-coupled receptor G1 ISO OMIM NCBI chr19:10,423,534...10,460,674
Ensembl chr19:10,423,501...10,460,674
JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr 4:159,674,885...159,697,207
Ensembl chr 4:159,674,885...159,697,207
JBrowse link
Polymicrogyria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 NCBI chr13:90,651,682...90,676,629
Ensembl chr13:90,651,686...90,676,629
JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25407461 PMID:25741868 PMID:26092869 PMID:28125082 PMID:28492532 PMID:30311386 NCBI chr 2:57,274,175...57,350,003
NCBI chr 2:57,444,373...57,472,465
Ensembl chr 2:57,276,919...57,348,481
JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:11741828 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16634037 PMID:16786213 PMID:17554798 PMID:18060779 PMID:18593008 PMID:18639457 PMID:19820980 PMID:19835634 PMID:19900540 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:28492532 PMID:30311386 NCBI chr 1:78,733,461...78,740,803
Ensembl chr 1:78,733,508...78,739,107
JBrowse link
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:20207543 PMID:25741868 PMID:28492532 PMID:29706646 NCBI chr 1:18,491,264...19,143,486
Ensembl chr 1:18,491,384...19,143,269
JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:28492532 PMID:29706646 NCBI chr 3:175,553,042...175,601,112
Ensembl chr 3:175,553,045...175,601,127
JBrowse link
G Lingo4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:29706646 NCBI chr 2:195,617,044...195,643,502
Ensembl chr 2:195,617,044...195,643,502
JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 PMID:28492532 PMID:29466837 PMID:29740860 PMID:30311386 NCBI chr 3:51,530,897...51,643,140
Ensembl chr 3:51,532,627...51,643,140
JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:32581362 NCBI chr 4:145,017,549...145,095,247
Ensembl chr 4:145,017,608...145,095,245
JBrowse link
G Wdr62 WD repeat domain 62 ISO DNA:deletion mutations:exons:p.S696fsX4 (c.2083delA),p.Q918GfsX18 (c.2472_2473delAG)(human) RGD PMID:21834044 RGD:11541050 NCBI chr 1:90,995,545...91,034,592
Ensembl chr 1:88,694,824...88,734,223
JBrowse link
Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME OMIM
ClinVar
PMID:9050868 PMID:11577371 PMID:19455184 PMID:25205403 PMID:25741868 PMID:25758994 PMID:28258187 PMID:28492532 PMID:28742248 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis ClinVar
OMIM
PMID:25741868 PMID:25855803 PMID:26752647 NCBI chr11:87,858,323...87,975,549
Ensembl chr11:87,858,453...87,973,422
JBrowse link
porencephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Porencephaly
CTD
ClinVar
PMID:607595 PMID:23225343 PMID:25741868 PMID:28492532 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:c.2399G>A,p.G800E(human)
CTD PMID:26708157 RGD:13450938 NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
JBrowse link
Schizencephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpe centromere protein E ISO ClinVar Annotator: match by term: SCHIZENCEPHALY ClinVar PMID:30311386 NCBI chr 2:240,395,974...240,454,785
Ensembl chr 2:240,396,152...240,454,747
JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:23225343 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
JBrowse link
G Emx2 empty spiracles homeobox 2 ISO ClinVar Annotator: match by term: Schizencephaly ClinVar
OMIM
PMID:8528262 PMID:9359037 NCBI chr 1:280,633,938...280,640,946
Ensembl chr 1:280,633,938...280,640,946
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: SCHIZENCEPHALY ClinVar PMID:28492532 PMID:30311386 NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
JBrowse link
G Gfm1 G elongation factor, mitochondrial 1 ISO ClinVar Annotator: match by term: SCHIZENCEPHALY ClinVar PMID:28492532 PMID:30311386 NCBI chr 2:164,601,575...164,646,478
Ensembl chr 2:164,601,586...164,646,439
JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: SCHIZENCEPHALY ClinVar PMID:30311386 NCBI chr10:53,818,818...53,848,490
Ensembl chr10:53,818,818...53,918,524
JBrowse link
G Ndn necdin, MAGE family member ISO ClinVar Annotator: match by term: SCHIZENCEPHALY ClinVar PMID:30311386 NCBI chr 1:122,981,755...122,983,354
Ensembl chr 1:122,981,755...122,983,351
JBrowse link
G Shh sonic hedgehog signaling molecule ISO ClinVar Annotator: match by term: SCHIZENCEPHALY
ClinVar Annotator: match by term: Schizencephaly
OMIM
ClinVar
PMID:9302262 PMID:10556296 PMID:12709790 PMID:18655123 PMID:19533790 PMID:19603532 PMID:19920144 PMID:20157829 PMID:20425842 PMID:21416594 PMID:25741868 PMID:26467025 PMID:28127823 PMID:28492532 PMID:30311386 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
G Six3 SIX homeobox 3 ISO ClinVar Annotator: match by term: Schizencephaly ClinVar
OMIM
PMID:18791198 PMID:19346217 PMID:20157829 PMID:26080100 PMID:26467025 PMID:28492532 NCBI chr 6:8,886,730...8,891,094
Ensembl chr 6:8,886,591...8,889,925
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        Nervous System Malformations 1102
          complex cortical dysplasia with other brain malformations 754
            Malformations of Cortical Development, Group III 26
              Polymicrogyria + 15
              Schizencephaly 9
              porencephaly + 3
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal dominant disease 3058
                complex cortical dysplasia with other brain malformations 754
                  Malformations of Cortical Development, Group III 26
                    Polymicrogyria + 15
                    Schizencephaly 9
                    porencephaly + 3
paths to the root