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Occipital Cortical Malformations - Ontology Report - Rat Genome Database

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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: LAMC3-RELATED CONDITION;   OCCM
 primary_id: MIM:614115
 alt_id: RDO:9000254

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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 term: Cortical malformations, occipital | ClinVar Annotator: match by term: LAMC3-related condition OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:21572413 PMID:23160955 PMID:25326635 More... 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 19140
    syndrome 11403
      Occipital Cortical Malformations 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        Neurologic Manifestations 10464
          sensory system disease 7381
            eye disease 3728
              visual pathway disease 202
                visual cortex disease 199
                  visual epilepsy 198
                    Occipital Cortical Malformations 1
paths to the root