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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 parasagittal parieto-occipital polymicrogyria
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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


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bilateral parasagittal parieto-occipital polymicrogyria | ClinVar Annotator: match by term: Polymicrogyria, bilateral temporooccipital		 OMIM
CTD
ClinVar		 PMID:17572665 PMID:18180444 PMID:18261132 PMID:18556664 PMID:18758830 More... NCBI chr10:41,064,168...41,179,237
Ensembl chr10:41,064,168...41,179,256 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    Developmental Disease 17912
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17782
        genetic disease 17756
          monogenic disease 10362
            autosomal genetic disease 9535
              autosomal recessive disease 6605
                bilateral parasagittal parieto-occipital polymicrogyria 1
Path 2
Term Annotations click to browse term
  disease 18301
    Developmental Disease 17912
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17782
        genetic disease 17756
          monogenic disease 10362
            autosomal genetic disease 9535
              autosomal dominant disease 6266
                complex cortical dysplasia with other brain malformations 1600
                  Malformations of Cortical Development, Group III 29
                    polymicrogyria 22
                      bilateral parasagittal parieto-occipital polymicrogyria 1
paths to the root