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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:612691
ClinVar Annotator: match by term: Polymicrogyria, bilateral temporooccipital
OMIM
ClinVar
PMID:17572665 PMID:18180444 PMID:18261132 PMID:18556664 PMID:18758830 PMID:19118816 PMID:20630877 PMID:21655088 PMID:21705420 PMID:22131434 PMID:22998443 PMID:23489662 PMID:23623387 PMID:24033266 PMID:24598713 PMID:24878229 PMID:25510381 PMID:25617005 PMID:25741868 PMID:26467025 PMID:27549087 PMID:28051077 PMID:28430856 PMID:28492532 PMID:28859335 PMID:29468183 PMID:30373780 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 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        genetic disease 8941
          monogenic disease 7120
            autosomal genetic disease 6275
              autosomal recessive disease 3441
                bilateral parasagittal parieto-occipital polymicrogyria 1
Path 2
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        genetic disease 8941
          monogenic disease 7120
            autosomal genetic disease 6275
              autosomal dominant disease 4449
                complex cortical dysplasia with other brain malformations 1183
                  Malformations of Cortical Development, Group III 24
                    polymicrogyria 18
                      bilateral parasagittal parieto-occipital polymicrogyria 1
paths to the root