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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


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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 term: Cortical malformations, occipital OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:21572413 PMID:23160955 PMID:25326635 More... NCBI chr 9:102,131,594...102,213,829
Ensembl chr 9:130,777,182...130,861,292 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10168
      Occipital Cortical Malformations 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        Neurologic Manifestations 9644
          sensory system disease 6626
            eye disease 3377
              visual pathway disease 332
                visual cortex disease 329
                  visual epilepsy 329
                    Occipital Cortical Malformations 1
paths to the root