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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 chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708 		JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 PMID:31608932 NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544 		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 1:17,672,675...18,320,641
Ensembl chr 1:17,672,536...18,320,530 		JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:28492532 PMID:29706646 NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451 		JBrowse link
G Lingo4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:29706646 NCBI chr 2:182,035,522...182,040,787
Ensembl chr 2:182,014,326...182,040,787 		JBrowse link
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110 		JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921 		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 chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:32581362 NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894 		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 1:85,491,531...85,530,643
Ensembl chr 1:85,491,533...85,530,637 		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: Bilateral frontoparietal polymicrogyria
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2494962 PMID:3303730 PMID:15044805 PMID:16199547 PMID:16240336 More... NCBI chr19:10,003,963...10,041,122
Ensembl chr19:10,003,975...10,041,108 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17572665 PMID:18180444 PMID:18261132 PMID:18556664 PMID:18758830 More... NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844 		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 chr19:10,003,963...10,041,122
Ensembl chr19:10,003,975...10,041,108 		JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495 		JBrowse link
G Ddx23 DEAD-box helicase 23 ISO ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome ClinVar PMID:25741868 NCBI chr 7:129,797,620...129,814,909
Ensembl chr 7:129,797,614...129,814,949 		JBrowse link
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome ClinVar PMID:25741868 NCBI chr20:31,811,817...31,838,562
Ensembl chr20:31,811,817...31,838,561 		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 chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119 		JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome ClinVar PMID:25741868 PMID:33649541 NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186 		JBrowse link
G Tubb2b tubulin, beta 2B class IIb ISO ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome ClinVar PMID:25741868 NCBI chr17:30,747,734...30,750,781
Ensembl chr17:30,747,734...30,750,638 		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 chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602 		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 chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544 		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 chr18:82,220,999...82,398,334
Ensembl chr18:82,221,050...82,398,333 		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:7695699 PMID:8218237 PMID:8514866 More... NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		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 chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130 		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 chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      nervous system disease 14334
        Nervous System Malformations 2448
          complex cortical dysplasia with other brain malformations 1633
            Malformations of Cortical Development, Group III 28
              polymicrogyria 22
                Asymmetric Polymicrogyria 0
                FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES 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 + 10
                unilateral focal polymicrogyria 0
Path 2
Term Annotations click to browse term
  disease 19100
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          monogenic disease 10860
            autosomal genetic disease 10342
              autosomal dominant disease 6692
                complex cortical dysplasia with other brain malformations 1633
                  Malformations of Cortical Development, Group III 28
                    polymicrogyria 22
                      Asymmetric Polymicrogyria 0
                      FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES 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 + 10
                      unilateral focal polymicrogyria 0
paths to the root