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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 term: Bilateral frontoparietal polymicrogyria OMIM
ClinVar
PMID:15044805 PMID:18414213 PMID:19016831 PMID:20929962 PMID:21349848 More... NCBI chr19:10,003,963...10,041,122
Ensembl chr19:10,003,975...10,041,108
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    Developmental Disease 13068
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11804
        genetic disease 11315
          monogenic disease 8884
            autosomal genetic disease 7927
              autosomal recessive disease 4932
                bilateral frontoparietal polymicrogyria 1
Path 2
Term Annotations click to browse term
  disease 18215
    Developmental Disease 13068
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11804
        genetic disease 11315
          monogenic disease 8884
            autosomal genetic disease 7927
              autosomal dominant disease 5419
                complex cortical dysplasia with other brain malformations 1488
                  Malformations of Cortical Development, Group III 22
                    polymicrogyria 15
                      bilateral frontoparietal polymicrogyria 1
paths to the root