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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:bilateral frontoparietal polymicrogyria
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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;   Cerebellar Ataxia with Neuronal Migration Defect
 primary_id: MESH:C564652
 alt_id: DOID:9002736;   OMIM:606854
 xref: GARD:10784;   NCI:C148367
For additional species annotation, visit the Alliance of Genome Resources.


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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 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 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        genetic disease 8941
          monogenic disease 7120
            autosomal genetic disease 6275
              autosomal recessive disease 3441
                bilateral frontoparietal polymicrogyria 2
Path 2
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        genetic disease 8941
          monogenic disease 7120
            autosomal genetic disease 6275
              autosomal dominant disease 4449
                complex cortical dysplasia with other brain malformations 1183
                  Malformations of Cortical Development, Group III 24
                    polymicrogyria 18
                      bilateral frontoparietal polymicrogyria 2
paths to the root