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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:Occipital Cortical Malformations
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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.


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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 PMID:30311386 NCBI chr 3:9,265,407...9,327,107
Ensembl chr 3:9,267,122...9,326,993
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Occipital Cortical Malformations 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal dominant disease 3058
                complex cortical dysplasia with other brain malformations 754
                  Occipital Cortical Malformations 1
paths to the root