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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:Polymicrogyria, Bilateral Occipital
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Accession:DOID:9004690 term browser browse the term
Synonyms:exact_synonym: BTOP;   POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL
 primary_id: MESH:C567201;   RDO:0015342
 alt_id: OMIM:612691
For additional species annotation, visit the Alliance of Genome Resources.


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Polymicrogyria, Bilateral Occipital 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 OMIM:612691
ClinVar Annotator: match by term: Polymicrogyria, bilateral temporooccipital
OMIM
ClinVar
PMID:18758830 PMID:21705420 PMID:23489662 PMID:23623387 PMID:24598713 PMID:25741868 PMID:28492532 NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        Nervous System Malformations 1041
          complex cortical dysplasia with other brain malformations 707
            Polymicrogyria, Bilateral Occipital 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal dominant disease 3034
                complex cortical dysplasia with other brain malformations 707
                  Polymicrogyria, Bilateral Occipital 1
paths to the root