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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;   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


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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bilateral frontoparietal polymicrogyria		 OMIM
CTD
ClinVar		 PMID:2494962 PMID:3303730 PMID:15044805 PMID:16199547 PMID:16240336 More... NCBI chr19:10,003,963...10,041,122
Ensembl chr19:10,003,975...10,041,108 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                bilateral frontoparietal polymicrogyria 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal dominant disease 6311
                complex cortical dysplasia with other brain malformations 1595
                  Malformations of Cortical Development, Group III 28
                    polymicrogyria 22
                      bilateral frontoparietal polymicrogyria 1
paths to the root