Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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:Polymicrogyria, Bilateral Frontoparietal
go back to main search page
Accession:DOID:9002736 term browser browse the term
Synonyms:exact_synonym: BFPP;   Cerebellar Ataxia with Neuronal Migration Defect
 primary_id: MESH:C564652;   RDO:0013537
 alt_id: OMIM:606854
 xref: NCI:C148367
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Polymicrogyria, Bilateral Frontoparietal 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 PMID:24033266 PMID:24949629 PMID:25741868 PMID:25922261 PMID:26467025 PMID:28424266 PMID:28492532 PMID:29707406 NCBI chr19:10,423,534...10,460,674
Ensembl chr19:10,423,501...10,460,674
JBrowse link
G Adgrg3 adhesion G protein-coupled receptor G3 ISO ClinVar Annotator: match by term: Polymicrogyria, bilateral frontoparietal ClinVar NCBI chr19:10,392,001...10,422,606
Ensembl chr19:10,392,004...10,421,010
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        Nervous System Malformations 1041
          complex cortical dysplasia with other brain malformations 707
            Polymicrogyria, Bilateral Frontoparietal 2
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal dominant disease 3034
                complex cortical dysplasia with other brain malformations 707
                  Polymicrogyria, Bilateral Frontoparietal 2
paths to the root