Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:bilateral frontoparietal polymicrogyria
go back to main search page
Accession:DOID:0080922 term browser browse the term
Definition:A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus and that has_material_basis_in homozygous mutation in the ADGRG1 gene on chromosome 16q21. (DO)
Synonyms:exact_synonym: BFPP;   CDCBM14A;   Cerebellar Ataxia with Neuronal Migration Defect;   complex cortical dysplasia with other brain malformations 14A, (bilateral frontoparietal)
 primary_id: MESH:C564652
 alt_id: DOID:9002736;   OMIM:606854
 xref: GARD:10784;   NCI:C148367


GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
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 OMIM
ClinVar
PMID:15044805 PMID:18414213 PMID:19016831 PMID:20929962 PMID:21349848 More... NCBI chrNW_004955433:15,253,196...15,288,982
Ensembl chrNW_004955433:15,259,720...15,289,151
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15993
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15946
        genetic disease 15936
          monogenic disease 9389
            autosomal genetic disease 8703
              autosomal recessive disease 6087
                bilateral frontoparietal polymicrogyria 1
Path 2
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15993
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15946
        genetic disease 15936
          monogenic disease 9389
            autosomal genetic disease 8703
              autosomal dominant disease 5722
                complex cortical dysplasia with other brain malformations 1519
                  Malformations of Cortical Development, Group III 25
                    polymicrogyria 20
                      bilateral frontoparietal polymicrogyria 1
paths to the root