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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 LOC130058793 ATAC-STARR-seq lymphoblastoid active region 10682 IAGP ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial ClinVar PMID:25741868 NCBI chr16:29,825,128...29,825,207 JBrowse link
G LOC130058794 ATAC-STARR-seq lymphoblastoid active region 10683 IAGP ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial ClinVar PMID:25741868 NCBI chr16:29,825,268...29,825,397 JBrowse link
G MVP major vault protein IAGP ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial ClinVar PMID:25741868 NCBI chr16:29,820,394...29,848,039
Ensembl chr16:29,820,394...29,848,039 		JBrowse link
G MVP-DT MVP divergent transcript IAGP ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS
ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial
ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial | ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS		 ClinVar PMID:11179027 PMID:11346027 PMID:16199547 PMID:18414213 PMID:20301633 More... NCBI chr16:29,808,644...29,820,367
Ensembl chr16:29,808,636...29,821,252 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 IAGP
EXP		 ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial
ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS
ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial | ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:11179027 PMID:11346027 PMID:16199547 PMID:18414213 PMID:20301633 More... NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35756
    syndrome 18145
      infancy electroclinical syndrome 140
        benign familial infantile epilepsy 85
          Familial Infantile Convulsions and Paroxysmal Choreoathetosis 5
Path 2
Term Annotations click to browse term
  disease 35756
    disease of anatomical entity 32495
      nervous system disease 26376
        central nervous system disease 23611
          brain disease 22049
            epilepsy 3696
              electroclinical syndrome 1766
                infancy electroclinical syndrome 140
                  benign familial infantile epilepsy 85
                    Familial Infantile Convulsions and Paroxysmal Choreoathetosis 5
paths to the root