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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:9004861 term browser browse the term
Definition:Heterogeneous disorders of cortical malformation characterized by excessive and small fused gyri and shallow sulci of the CORTEX with abnormal cortical lamination. It is considered a malformation secondary to abnormal post-migrational development of the neurons during cerebral cortical development and is associated with EPILEPSY and learning difficulties.
Synonyms:exact_synonym: Cerebral Micropolygyria;   Cerebral Micropolygyrias;   Cerebral Polymicrogyria;   Cerebral Polymicrogyrias;   Micropolygyria;   Micropolygyrias;   Polymicrogyrias
 primary_id: MESH:D065706;   RDO:0015982
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 chr13:90,651,682...90,676,629
Ensembl chr13:90,651,686...90,676,629 		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 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
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
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 OMIM:614833
ClinVar Annotator: match by term: Polymicrogyria with seizures		 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
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome ClinVar PMID:25741868 NCBI chr 7:140,637,287...140,640,953
Ensembl chr 7:140,637,287...140,640,953 		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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        Nervous System Malformations 1050
          complex cortical dysplasia with other brain malformations 716
            Malformations of Cortical Development, Group III 20
              Polymicrogyria 14
                Asymmetric Polymicrogyria 1
                Microcephaly, Short Stature, and Polymicrogyria with or without Seizures 1
                Perisylvian Syndrome + 4
                Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            autosomal genetic disease 4875
              autosomal dominant disease 3160
                complex cortical dysplasia with other brain malformations 716
                  Malformations of Cortical Development, Group III 20
                    Polymicrogyria 14
                      Asymmetric Polymicrogyria 1
                      Microcephaly, Short Stature, and Polymicrogyria with or without Seizures 1
                      Perisylvian Syndrome + 4
                      Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome 1
paths to the root