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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 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More... NCBI chr 1:219,107,482...219,463,140
Ensembl chr 1:224,480,784...224,824,838 		JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 PMID:31608932 NCBI chr 1:135,469,495...135,497,303
Ensembl chr 1:139,390,549...139,418,303 		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 6:126,672,013...127,307,870
Ensembl chr 6:130,781,781...131,415,337 		JBrowse link
G LAMA5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:28492532 PMID:29706646 NCBI chr20:58,673,850...58,677,760
Ensembl chr20:59,992,130...60,055,765 		JBrowse link
G LINGO4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:29706646 NCBI chr 1:127,154,152...127,164,591
Ensembl chr 1:130,803,557...130,805,338 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 NCBI chr  X:6,296,597...6,376,197
Ensembl chr  X:13,611,304...13,664,512 		JBrowse link
G PEX1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:84,484,965...84,526,309
Ensembl chr 7:98,081,021...98,122,335 		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 chr2B:52,363,020...52,479,818
Ensembl chr2B:169,722,134...169,838,590 		JBrowse link
G SETD5 SET domain containing 5 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:32581362 NCBI chr 3:9,350,026...9,430,760
Ensembl chr 3:9,592,517...9,672,306 		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 chr19:32,973,725...33,030,297
Ensembl chr19:41,721,281...41,777,038 		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 chr16:37,896,177...37,942,040
Ensembl chr16:57,036,425...57,074,221 		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 chr 6:107,495,637...107,631,201
Ensembl chr 6:111,539,937...111,673,894 		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 chr16:37,896,177...37,942,040
Ensembl chr16:57,036,425...57,074,221 		JBrowse link
G CCND2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551 		JBrowse link
G DDX23 DEAD-box helicase 23 ISO ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome ClinVar PMID:25741868 NCBI chr12:39,896,354...39,917,195
Ensembl chr12:40,774,975...40,796,466 		JBrowse link
G NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome ClinVar PMID:25741868 NCBI chr 6:115,486,422...115,521,317 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 chr2B:52,363,020...52,479,818
Ensembl chr2B:169,722,134...169,838,590 		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 Ensembl chr 4:6,345,864...6,379,287 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 chr 1:135,469,495...135,497,303
Ensembl chr 1:139,390,549...139,418,303 		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 chr 6:157,661,409...157,672,581
Ensembl chr 6:162,673,596...162,683,985 		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 chr18:63,381,953...63,584,937
Ensembl chr18:66,674,597...66,874,104 		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 chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956 		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 chr12:100,417,267...100,496,888
Ensembl chr12:103,811,761...103,891,726 		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 chr22:2,931,523...3,082,475 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15835
    disease of anatomical entity 15491
      nervous system disease 13589
        Nervous System Malformations 2450
          complex cortical dysplasia with other brain malformations 1637
            Malformations of Cortical Development, Group III 28
              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 15835
    Developmental Disease 13863
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12952
        genetic disease 12652
          monogenic disease 10860
            autosomal genetic disease 10399
              autosomal dominant disease 6745
                complex cortical dysplasia with other brain malformations 1637
                  Malformations of Cortical Development, Group III 28
                    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