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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:polymicrogyria
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Accession:DOID:0080918 term browser browse the term
Definition:A brain disease that is characterized by malformation of the developing brain characterized by abnormal cortical lamination and an unusual folding pattern of the cerebral cortex such that all or part of the brain surface is taken up by an excessive number of small folds (gyri). (DO)
Synonyms:exact_synonym: Cerebral Micropolygyria;   Cerebral Micropolygyrias;   Cerebral Polymicrogyria;   Cerebral Polymicrogyrias;   Micropolygyria;   Micropolygyrias;   Polymicrogyrias
 primary_id: MESH:D065706
 alt_id: DOID:9004861
 xref: NCI:C116936
For additional species annotation, visit the Alliance of Genome Resources.


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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 chrNW_004955468:11,898,786...11,924,341
Ensembl chrNW_004955468:11,898,915...11,922,400
JBrowse link
G Dhx37 DEAH-box helicase 37 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:31256877 NCBI chrNW_004955482:4,733,720...4,754,754
Ensembl chrNW_004955482:4,731,675...4,756,632
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 chrNW_004955436:9,829,777...10,400,101
Ensembl chrNW_004955436:9,830,030...10,399,891
JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:28492532 PMID:29706646 NCBI chrNW_004955528:1,713,110...1,753,374
Ensembl chrNW_004955528:1,713,125...1,753,116
JBrowse link
G Lingo4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:29706646 NCBI chrNW_004955589:618,959...623,915
Ensembl chrNW_004955589:618,998...623,239
JBrowse link
G Ofd1 OFD1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 NCBI chrNW_004955519:4,433,747...4,470,842
Ensembl chrNW_004955519:4,433,855...4,471,070
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:34081427 NCBI chrNW_004955449:8,896,454...9,009,304
Ensembl chrNW_004955449:8,896,454...9,009,304
JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:32581362 NCBI chrNW_004955561:968,814...1,091,687
Ensembl chrNW_004955561:968,814...1,042,691
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 chrNW_004955468:2,504,181...2,545,982
Ensembl chrNW_004955468:2,503,885...2,545,255
JBrowse link
bilateral frontoparietal polymicrogyria 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 chrNW_004955433:15,253,196...15,288,982
Ensembl chrNW_004955433:15,259,720...15,289,151
JBrowse link
G Adgrg3 adhesion G protein-coupled receptor G3 ISO ClinVar Annotator: match by term: Polymicrogyria, bilateral frontoparietal ClinVar NCBI chrNW_004955433:15,290,538...15,317,020
Ensembl chrNW_004955433:15,290,394...15,319,361
JBrowse link
bilateral parasagittal parieto-occipital polymicrogyria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO OMIM NCBI chrNW_004955411:3,135,752...3,217,891 JBrowse link
bilateral perisylvian polymicrogyria 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 chrNW_004955433:15,253,196...15,288,982
Ensembl chrNW_004955433:15,259,720...15,289,151
JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chrNW_004955413:2,083,351...2,108,450
Ensembl chrNW_004955413:2,083,351...2,103,430
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 OMIM NCBI chrNW_004955402:53,600,985...53,753,218
Ensembl chrNW_004955402:53,600,985...53,753,459
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 OMIM NCBI chrNW_004955403:9,720,831...9,758,019
Ensembl chrNW_004955403:9,721,114...9,757,887
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 OMIM NCBI chrNW_004955442:19,446,955...19,594,790
Ensembl chrNW_004955442:19,446,955...19,598,725
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12744
    disease of anatomical entity 12425
      nervous system disease 10321
        Nervous System Malformations 1566
          complex cortical dysplasia with other brain malformations 1151
            Malformations of Cortical Development, Group III 22
              polymicrogyria 16
                Asymmetric Polymicrogyria 0
                Microcephaly, Short Stature, and Polymicrogyria with or without Seizures 1
                Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome 1
                bilateral frontal polymicrogyria 0
                bilateral frontoparietal polymicrogyria 2
                bilateral generalized polymicrogyria 0
                bilateral parasagittal parieto-occipital polymicrogyria 1
                bilateral perisylvian polymicrogyria + 3
                unilateral focal polymicrogyria 0
Path 2
Term Annotations click to browse term
  disease 12744
    Developmental Disease 9641
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8392
        genetic disease 7967
          monogenic disease 6469
            autosomal genetic disease 5768
              autosomal dominant disease 4101
                complex cortical dysplasia with other brain malformations 1151
                  Malformations of Cortical Development, Group III 22
                    polymicrogyria 16
                      Asymmetric Polymicrogyria 0
                      Microcephaly, Short Stature, and Polymicrogyria with or without Seizures 1
                      Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome 1
                      bilateral frontal polymicrogyria 0
                      bilateral frontoparietal polymicrogyria 2
                      bilateral generalized polymicrogyria 0
                      bilateral parasagittal parieto-occipital polymicrogyria 1
                      bilateral perisylvian polymicrogyria + 3
                      unilateral focal polymicrogyria 0
paths to the root