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:Occipital Cortical Malformations
go back to main search page
Accession:DOID:9003313 term browser browse the term
Definition:A syndrome characterized by seizures, sometimes associated with transient visual changes.
Synonyms:exact_synonym: OCCM
 primary_id: OMIM:614115
 alt_id: RDO:9000254
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Occipital Cortical Malformations term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamc3 laminin subunit gamma 3 ISO ClinVar Annotator: match by OMIM:614115
ClinVar Annotator: match by term: Cortical malformations, occipital
OMIM
ClinVar
PMID:21572413 PMID:25326635 PMID:25741868 PMID:28492532 NCBI chr 3:15,165,220...15,226,697
Ensembl chr 3:15,165,220...15,226,697
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Occipital Cortical Malformations 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                complex cortical dysplasia with other brain malformations 1195
                  Occipital Cortical Malformations 1
paths to the root