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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:Familial Infantile Convulsions and Paroxysmal Choreoathetosis
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Accession:DOID:9007283 term browser browse the term
Synonyms:exact_synonym: CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS;   ICCA;   ICCA syndrome;   PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS;   PKD/IC
 primary_id: MESH:C535522
 alt_id: OMIM:602066


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Familial Infantile Convulsions and Paroxysmal Choreoathetosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mvp major vault protein ISO ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial ClinVar PMID:25741868 NCBI chr 1:181,594,734...181,622,336
Ensembl chr 1:181,594,734...181,622,380 		JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial | ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS		 OMIM
CTD
ClinVar		 PMID:11179027 PMID:11346027 PMID:16199547 PMID:18414213 PMID:20301633 More... NCBI chr 1:181,625,243...181,628,833
Ensembl chr 1:181,604,545...181,628,850 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      infancy electroclinical syndrome 112
        benign familial infantile epilepsy 62
          Familial Infantile Convulsions and Paroxysmal Choreoathetosis 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            epilepsy 2802
              electroclinical syndrome 1351
                infancy electroclinical syndrome 112
                  benign familial infantile epilepsy 62
                    Familial Infantile Convulsions and Paroxysmal Choreoathetosis 2
paths to the root