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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


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 AKT3 AKT serine/threonine kinase 3 IAGP ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More... NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079 		JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 PMID:31608932 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591 		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 chr20:62,309,065...62,367,312
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:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520 		JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 IAGP ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 PMID:28235671 PMID:28492532 PMID:29466837 PMID:29740860 More... NCBI chr 2:165,087,526...165,204,050
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 chr19:36,054,897...36,111,145
Ensembl chr19:36,054,649...36,105,108 		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
EXP		 ClinVar Annotator: match by term: Bilateral frontoparietal polymicrogyria
ClinVar Annotator: match by term: ADGRG1-related condition | ClinVar Annotator: match by term: Bilateral frontoparietal polymicrogyria
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:2494962 PMID:3303730 PMID:15044805 PMID:16199547 PMID:16240336 More... NCBI chr16:57,619,738...57,665,567
Ensembl chr16:57,610,652...57,665,580 		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
EXP		 ClinVar Annotator: match by term: Bilateral parasagittal parieto-occipital polymicrogyria
ClinVar Annotator: match by term: Polymicrogyria, bilateral temporooccipital
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:17572665 PMID:18261132 PMID:18556664 PMID:18758830 PMID:19118816 More... NCBI chr 6:109,691,296...109,825,426
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 PMID:26467025 PMID:28492532 NCBI chr16:57,619,738...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 DDX23 DEAD-box helicase 23 IAGP ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome ClinVar PMID:25741868 NCBI chr12:48,829,756...48,852,163
Ensembl chr12:48,829,756...48,852,842 		JBrowse link
G NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit IAGP ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome ClinVar PMID:25741868 NCBI chr 6:117,675,469...117,710,727
Ensembl chr 6:117,675,469...117,710,727 		JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 IAGP ClinVar Annotator: match by term: Bilateral perisylvian polymicrogyria ClinVar PMID:25741868 PMID:32515017 NCBI chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome ClinVar PMID:25741868 PMID:28492532 PMID:33649541 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324 		JBrowse link
G TUBB2B tubulin beta 2B class IIb IAGP ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome ClinVar PMID:25741868 NCBI chr 6:3,224,277...3,227,653
Ensembl chr 6:3,223,324...3,231,730 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29529044 NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		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 IAGP ClinVar Annotator: match by term: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies ClinVar
OMIM		 PMID:15159495 PMID:15174025 PMID:17142831 PMID:18414213 PMID:18728015 More... NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591 		JBrowse link
G LOC126805890 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:160093987-160095186 IAGP ClinVar Annotator: match by term: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:160,124,197...160,125,396 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 IAGP ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH POLYMICROGYRIA AND SEIZURES ClinVar
OMIM		 PMID:39480921 NCBI chr 6:159,778,498...159,789,602
Ensembl chr 6:159,778,498...159,789,703 		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 LOC126862785 MED14-independent group 3 enhancer GRCh37_chr18:67714790-67715989 IAGP ClinVar Annotator: match by term: RTTN-related condition ClinVar PMID:28492532 NCBI chr18:70,047,554...70,048,753 JBrowse link
G RTTN rotatin IAGP 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 chr18:70,003,031...70,205,687
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 | 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 chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G LOC126806446 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:189866210-189867409 IAGP ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:189,001,484...189,002,683 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 IAGP 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 chr12:102,836,889...102,958,441
Ensembl chr12:102,836,889...102,958,410 		JBrowse link
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 PMID:34415310 More... NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 147117
    disease of anatomical entity 134156
      nervous system disease 71651
        Nervous System Malformations 3269
          complex cortical dysplasia with other brain malformations 2242
            Malformations of Cortical Development, Group III 36
              polymicrogyria 26
                Asymmetric Polymicrogyria 0
                FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES 2
                INTELLECTUAL DEVELOPMENTAL DISORDER WITH POLYMICROGYRIA AND SEIZURES 1
                Microcephaly, Short Stature, and Polymicrogyria with or without Seizures 2
                Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome 2
                bilateral frontal polymicrogyria 0
                bilateral frontoparietal polymicrogyria 1
                bilateral generalized polymicrogyria 0
                bilateral parasagittal parieto-occipital polymicrogyria 1
                bilateral perisylvian polymicrogyria + 10
                unilateral focal polymicrogyria 0
Path 2
Term Annotations click to browse term
  disease 147117
    Developmental Disease 49460
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 42944
        genetic disease 40723
          monogenic disease 23695
            autosomal genetic disease 22052
              autosomal dominant disease 15018
                complex cortical dysplasia with other brain malformations 2242
                  Malformations of Cortical Development, Group III 36
                    polymicrogyria 26
                      Asymmetric Polymicrogyria 0
                      FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES 2
                      INTELLECTUAL DEVELOPMENTAL DISORDER WITH POLYMICROGYRIA AND SEIZURES 1
                      Microcephaly, Short Stature, and Polymicrogyria with or without Seizures 2
                      Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome 2
                      bilateral frontal polymicrogyria 0
                      bilateral frontoparietal polymicrogyria 1
                      bilateral generalized polymicrogyria 0
                      bilateral parasagittal parieto-occipital polymicrogyria 1
                      bilateral perisylvian polymicrogyria + 10
                      unilateral focal polymicrogyria 0
paths to the root