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 parasagittal parieto-occipital polymicrogyria
go back to main search page
Accession:DOID:0080923 term browser browse the term
Definition:A polymicrogyria that is characterized by bilateral malformation of cortical development, centered around the parasagittal and mesial aspects of the parietooccipital cortex and that has_material_basis_in homozygous mutation in the FIG4 gene on chromosome 6q21. (DO)
Synonyms:exact_synonym: BTOP;   POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL;   Polymicrogyria, Bilateral Occipital
 primary_id: MESH:C567201
 alt_id: DOID:9004690;   OMIM:612691
 xref: GARD:10785;   ORDO:208441
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
bilateral parasagittal parieto-occipital polymicrogyria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Bilateral parasagittal parieto-occipital polymicrogyria | ClinVar Annotator: match by term: Polymicrogyria, bilateral temporooccipital OMIM
ClinVar
PMID:17572665 PMID:18180444 PMID:18261132 PMID:18556664 PMID:18758830 More... NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal recessive disease 4832
                bilateral parasagittal parieto-occipital polymicrogyria 1
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal dominant disease 5232
                complex cortical dysplasia with other brain malformations 1451
                  Malformations of Cortical Development, Group III 22
                    polymicrogyria 15
                      bilateral parasagittal parieto-occipital polymicrogyria 1
paths to the root