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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.


show annotations for term's descendants           Sort by:
 
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 chr 4:90,341,316...90,371,040
Ensembl chr 4:90,291,344...90,396,160
JBrowse link
G DHX37 DEAH-box helicase 37 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:31256877 NCBI chr14:28,206,152...28,242,436
Ensembl chr14:28,206,160...28,243,427
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 1:33,765,412...34,359,741
Ensembl chr 1:33,867,639...34,359,698
JBrowse link
G LAMA5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:28492532 PMID:29706646 NCBI chr17:61,698,370...61,747,795 JBrowse link
G LINGO4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:29706646 NCBI chr 4:97,399,660...97,415,720
Ensembl chr 4:97,400,876...97,406,473
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 NCBI chr  X:10,361,403...10,415,502 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:34081427 NCBI chr15:71,717,330...71,824,190
Ensembl chr15:71,717,334...71,824,160
JBrowse link
G SETD5 SET domain containing 5 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:32581362 NCBI chr13:65,759,973...65,851,747
Ensembl chr13:65,759,954...65,850,531
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 6:45,418,966...45,477,619
Ensembl chr 6:45,419,041...45,474,050
JBrowse link
Asymmetric Polymicrogyria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100624785 tubulin beta-2A chain ISO ClinVar Annotator: match by term: Polymicrogyria, asymmetric ClinVar PMID:11425694 PMID:18414213 PMID:19465910 PMID:22333901 PMID:23001566 More... NCBI chr 7:1,910,585...1,914,668
Ensembl chr 7:1,910,585...1,956,119
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 chr 6:19,523,618...19,570,891
Ensembl chr 6:19,527,648...19,570,893
JBrowse link
G ADGRG3 adhesion G protein-coupled receptor G3 ISO ClinVar Annotator: match by term: Polymicrogyria, bilateral frontoparietal ClinVar NCBI chr 6:19,573,080...19,599,082
Ensembl chr 6:19,574,514...19,599,082
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 chr 1:75,694,151...75,847,021
Ensembl chr 1:75,692,932...75,847,528
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 chr 6:19,523,618...19,570,891
Ensembl chr 6:19,527,648...19,570,893
JBrowse link
G CCND2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571
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 chr 1:152,688,305...152,833,969
Ensembl chr 1:152,689,504...152,892,975
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 chr15:93,556,914...93,595,678
Ensembl chr15:93,556,912...93,615,815
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 chr14:50,390,416...50,491,983
Ensembl chr14:50,390,408...50,491,950
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13616
    disease of anatomical entity 13281
      nervous system disease 10996
        Nervous System Malformations 1608
          complex cortical dysplasia with other brain malformations 1170
            Malformations of Cortical Development, Group III 23
              polymicrogyria 17
                Asymmetric Polymicrogyria 1
                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 13616
    Developmental Disease 10199
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8802
        genetic disease 8352
          monogenic disease 6762
            autosomal genetic disease 5978
              autosomal dominant disease 4262
                complex cortical dysplasia with other brain malformations 1170
                  Malformations of Cortical Development, Group III 23
                    polymicrogyria 17
                      Asymmetric Polymicrogyria 1
                      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