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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

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polymicrogyria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955406:6,907,876...7,163,672 JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 PMID:31608932 NCBI chrNW_004955468:11,898,786...11,924,341
Ensembl chrNW_004955468:11,898,915...11,922,400 		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 Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955432:9,418,480...9,461,507
Ensembl chrNW_004955432:9,418,678...9,461,419 		JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 PMID:28235671 PMID:28492532 PMID:29466837 PMID:29740860 More... 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 ClinVar Annotator: match by term: ADGRG1-related condition | ClinVar Annotator: match by term: Bilateral frontoparietal polymicrogyria OMIM
ClinVar		 PMID:2494962 PMID:3303730 PMID:15044805 PMID:16199547 PMID:16240336 More... NCBI chrNW_004955433:15,253,196...15,288,982
Ensembl chrNW_004955433:15,259,720...15,289,151 		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 ClinVar Annotator: match by term: Bilateral parasagittal parieto-occipital polymicrogyria | ClinVar Annotator: match by term: Polymicrogyria, bilateral temporooccipital OMIM
ClinVar		 PMID:17572665 PMID:18261132 PMID:18556664 PMID:18758830 PMID:19118816 More... 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 ClinVar Annotator: match by term: Polymicrogyria, bilateral perisylvian, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:28492532 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
G Ddx23 DEAD-box helicase 23 ISO ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome ClinVar PMID:25741868 NCBI chrNW_004955500:7,685,954...7,698,880
Ensembl chrNW_004955500:7,685,954...7,695,765 		JBrowse link
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome ClinVar PMID:25741868 NCBI chrNW_004955436:825,387...850,558
Ensembl chrNW_004955436:825,387...850,558 		JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Bilateral perisylvian polymicrogyria ClinVar PMID:25741868 PMID:32515017 NCBI chrNW_004955449:8,896,454...9,009,304
Ensembl chrNW_004955449:8,896,454...9,009,304 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29529044 NCBI chrNW_004955514:3,902,508...3,924,281
Ensembl chrNW_004955514:3,902,454...3,924,610 		JBrowse link
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES 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: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies OMIM
ClinVar		 PMID:15159495 PMID:15174025 PMID:17142831 PMID:18414213 PMID:18728015 More... NCBI chrNW_004955468:11,898,786...11,924,341
Ensembl chrNW_004955468:11,898,915...11,922,400 		JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POLYMICROGYRIA AND SEIZURES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcp1 t-complex 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH POLYMICROGYRIA AND SEIZURES ClinVar
OMIM		 PMID:39480921 NCBI chrNW_004955439:21,114,038...21,124,379 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: RTTN-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22939636 More... 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 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:2049575 PMID:2235526 PMID:2934645 PMID:7695699 PMID:8218237 More... 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 Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis ClinVar PMID:1971144 PMID:2014036 PMID:2564729 PMID:8533759 PMID:9101291 More... NCBI chrNW_004955405:37,848,486...37,909,163
Ensembl chrNW_004955405:37,846,354...37,909,457 		JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis OMIM
ClinVar		 PMID:25741868 PMID:25855803 PMID:26752647 PMID:28492532 PMID:34415310 More... 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 14337
    disease of anatomical entity 14030
      nervous system disease 12351
        Nervous System Malformations 2337
          complex cortical dysplasia with other brain malformations 1580
            Malformations of Cortical Development, Group III 26
              polymicrogyria 21
                Asymmetric Polymicrogyria 0
                FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES 1
                INTELLECTUAL DEVELOPMENTAL DISORDER WITH POLYMICROGYRIA AND SEIZURES 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 1
                bilateral generalized polymicrogyria 0
                bilateral parasagittal parieto-occipital polymicrogyria 1
                bilateral perisylvian polymicrogyria + 8
                unilateral focal polymicrogyria 0
Path 2
Term Annotations click to browse term
  disease 14337
    Developmental Disease 12614
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11878
        genetic disease 11608
          monogenic disease 9984
            autosomal genetic disease 9590
              autosomal dominant disease 6254
                complex cortical dysplasia with other brain malformations 1580
                  Malformations of Cortical Development, Group III 26
                    polymicrogyria 21
                      Asymmetric Polymicrogyria 0
                      FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES 1
                      INTELLECTUAL DEVELOPMENTAL DISORDER WITH POLYMICROGYRIA AND SEIZURES 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 1
                      bilateral generalized polymicrogyria 0
                      bilateral parasagittal parieto-occipital polymicrogyria 1
                      bilateral perisylvian polymicrogyria + 8
                      unilateral focal polymicrogyria 0
paths to the root