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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, alpha 2 polypeptide ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 NCBI chr 1:172,271,709...172,298,064
Ensembl chr 1:172,271,709...172,298,064
JBrowse link
G Dhx37 DEAH (Asp-Glu-Ala-His) box polypeptide 37 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:31256877 NCBI chr 5:125,413,747...125,434,139
Ensembl chr 5:125,413,858...125,434,121
JBrowse link
G Lama2 laminin, alpha 2 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:20207543 PMID:25741868 PMID:28492532 PMID:29706646 NCBI chr10:26,981,285...27,617,191
Ensembl chr10:26,980,036...27,619,758
JBrowse link
G Lama5 laminin, alpha 5 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:28492532 PMID:29706646 NCBI chr 2:180,176,373...180,225,904
Ensembl chr 2:180,176,373...180,225,859
JBrowse link
G Lingo4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:29706646 NCBI chr 3:94,399,219...94,404,501
Ensembl chr 3:94,398,517...94,404,501
JBrowse link
G Ofd1 OFD1, centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 NCBI chr  X:166,386,573...166,440,704
Ensembl chr  X:166,390,033...166,440,704
JBrowse link
G Scn3a sodium channel, voltage-gated, type III, alpha ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 PMID:28492532 PMID:29466837 PMID:29740860 PMID:34081427 NCBI chr 2:65,457,118...65,567,591
Ensembl chr 2:65,457,118...65,567,627
JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:32581362 NCBI chr 6:113,077,262...113,153,432
Ensembl chr 6:113,077,365...113,153,435
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 7:30,240,138...30,281,908
Ensembl chr 7:30,240,138...30,280,419
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 ISO ClinVar Annotator: match by term: Polymicrogyria, asymmetric ClinVar PMID:11425694 PMID:18414213 PMID:19465910 PMID:22333901 PMID:23001566 More... NCBI chr13:34,127,008...34,130,354
Ensembl chr13:34,126,748...34,130,466
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 OMIM:606854
ClinVar Annotator: match by term: Polymicrogyria, bilateral frontoparietal
ClinVar
OMIM
PMID:15044805 PMID:18414213 PMID:19016831 PMID:20929962 PMID:21349848 More... NCBI chr 8:94,974,756...95,014,208
Ensembl chr 8:94,974,751...95,014,217
JBrowse link
G Adgrg3 adhesion G protein-coupled receptor G3 ISO ClinVar Annotator: match by term: Polymicrogyria, bilateral frontoparietal ClinVar NCBI chr 8:95,017,113...95,045,250
Ensembl chr 8:95,017,692...95,045,250
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: Polymicrogyria, bilateral temporooccipital
ClinVar Annotator: match by OMIM:612691
OMIM
ClinVar
PMID:17572665 PMID:18180444 PMID:18261132 PMID:18556664 PMID:18758830 More... NCBI chr10:41,188,172...41,303,241
Ensembl chr10:41,188,172...41,303,260
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 NCBI chr 8:94,974,756...95,014,208
Ensembl chr 8:94,974,751...95,014,217
JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr 6:127,125,162...127,152,188
Ensembl chr 6:127,125,162...127,152,193
JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome ClinVar PMID:25741868 NCBI chr15:98,949,847...98,953,501
Ensembl chr15:98,949,837...98,953,703
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 Rttn rotatin ISO 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 Annotator: match by OMIM:614833
ClinVar Annotator: match by term: Polymicrogyria with seizures
OMIM
ClinVar
PMID:22939636 PMID:24033266 PMID:25326635 PMID:25741868 PMID:26608784 More... NCBI chr18:88,971,736...89,131,014
Ensembl chr18:88,971,790...89,131,016
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 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:9050868 PMID:9536098 PMID:11577371 PMID:17576681 PMID:19455184 More... NCBI chr 1:45,311,538...45,349,706
Ensembl chr 1:45,311,538...45,349,706
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 ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis ClinVar
OMIM
PMID:25741868 PMID:25855803 PMID:26752647 PMID:28492532 NCBI chr16:17,280,351...17,406,314
Ensembl chr16:17,280,351...17,406,314
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14517
    disease of anatomical entity 14115
      nervous system disease 11616
        Nervous System Malformations 1663
          complex cortical dysplasia with other brain malformations 1202
            Malformations of Cortical Development, Group III 25
              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 14517
    Developmental Disease 10791
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9309
        genetic disease 8841
          monogenic disease 7126
            autosomal genetic disease 6293
              autosomal dominant disease 4488
                complex cortical dysplasia with other brain malformations 1202
                  Malformations of Cortical Development, Group III 25
                    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