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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 IAGP ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
JBrowse link
G DHX37 DEAH-box helicase 37 IAGP ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:31256877 NCBI chr12:124,946,824...124,989,131
Ensembl chr12:124,946,825...124,989,131
JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:20207543 PMID:25741868 PMID:28492532 PMID:29706646 NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566
JBrowse link
G LAMA5 laminin subunit alpha 5 IAGP ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:28492532 PMID:29706646 NCBI chr20:62,309,060...62,367,318
Ensembl chr20:62,307,955...62,367,312
JBrowse link
G LINGO4 leucine rich repeat and Ig domain containing 4 IAGP ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:29706646 NCBI chr 1:151,800,264...151,805,419
Ensembl chr 1:151,800,264...151,805,419
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 NCBI chr  X:13,734,726...13,773,978
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 IAGP ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 PMID:28492532 PMID:29466837 PMID:29740860 PMID:34081427 NCBI chr 2:165,087,526...165,204,295
Ensembl chr 2:165,087,526...165,204,050
JBrowse link
G SETD5 SET domain containing 5 IAGP ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:32581362 NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240
JBrowse link
G WDR62 WD repeat domain 62 IAGP DNA:deletion mutations:exons:p.S696fsX4 (c.2083delA),p.Q918GfsX18 (c.2472_2473delAG)(human) RGD PMID:21834044 RGD:11541050 NCBI chr19:36,054,881...36,111,145
Ensembl chr19:36,054,649...36,105,108
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 IAGP ClinVar Annotator: match by term: Polymicrogyria, asymmetric ClinVar PMID:11425694 PMID:18414213 PMID:19465910 PMID:22333901 PMID:23001566 More... NCBI chr 6:3,224,277...3,227,653
Ensembl chr 6:3,223,324...3,231,730
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 IAGP ClinVar Annotator: match by term: Polymicrogyria, bilateral frontoparietal ClinVar
OMIM
PMID:15044805 PMID:18414213 PMID:19016831 PMID:20929962 PMID:21349848 More... NCBI chr16:57,619,535...57,665,567
Ensembl chr16:57,610,652...57,665,580
JBrowse link
G ADGRG3 adhesion G protein-coupled receptor G3 IAGP ClinVar Annotator: match by term: Polymicrogyria, bilateral frontoparietal ClinVar NCBI chr16:57,663,998...57,689,378
Ensembl chr16:57,668,277...57,689,378
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 IAGP ClinVar Annotator: match by term: Polymicrogyria, bilateral temporooccipital ClinVar
OMIM
PMID:17572665 PMID:18180444 PMID:18261132 PMID:18556664 PMID:18758830 More... NCBI chr 6:109,691,296...109,825,431
Ensembl chr 6:109,690,609...109,878,098
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 IAGP ClinVar Annotator: match by term: Polymicrogyria, bilateral perisylvian, autosomal recessive OMIM
ClinVar
PMID:25741868 NCBI chr16:57,619,535...57,665,567
Ensembl chr16:57,610,652...57,665,580
JBrowse link
G CCND2 cyclin D2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353
JBrowse link
G TUBA1A tubulin alpha 1a IAGP ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome ClinVar PMID:25741868 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,080
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 IAGP ClinVar Annotator: match by term: Polymicrogyria with seizures
ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with or without seizures
ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES
ClinVar
OMIM
PMID:22939636 PMID:24033266 PMID:25326635 PMID:25741868 PMID:26608784 More... NCBI chr18:70,003,031...70,205,726
Ensembl chr18:70,003,031...70,205,726
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 IAGP ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type ehlers-danlos syndrome
ClinVar Annotator: match by term: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME
OMIM
ClinVar
PMID:9050868 PMID:9536098 PMID:11577371 PMID:17576681 PMID:19455184 More... NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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 IAGP ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis ClinVar
OMIM
PMID:25741868 PMID:25855803 PMID:26752647 PMID:28492532 NCBI chr22:20,707,691...20,858,812
Ensembl chr22:20,707,691...20,859,417
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20257
    disease of anatomical entity 18858
      nervous system disease 14840
        Nervous System Malformations 1783
          complex cortical dysplasia with other brain malformations 1287
            Malformations of Cortical Development, Group III 26
              polymicrogyria 18
                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 + 4
                unilateral focal polymicrogyria 0
Path 2
Term Annotations click to browse term
  disease 20257
    Developmental Disease 13769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11279
        genetic disease 10738
          monogenic disease 8625
            autosomal genetic disease 7536
              autosomal dominant disease 5341
                complex cortical dysplasia with other brain malformations 1287
                  Malformations of Cortical Development, Group III 26
                    polymicrogyria 18
                      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 + 4
                      unilateral focal polymicrogyria 0
paths to the root