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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:paroxysmal nonkinesigenic dyskinesia 1
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Accession:DOID:0090049 term browser browse the term
Definition:A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the PNKD metallo-beta-lactamase domain containing gene on chromosome 2q35. (DO)
Synonyms:exact_synonym: DYT8;   Dystonia 8;   FPD1;   Familial Paroxysmal Nonkinesigenic Dyskinesia;   Mount-Reback syndrome;   PDC;   PNKD1;   familial paroxysmal choreoathetosis;   nonkinesigenic choreoathetosis;   paroxysmal dystonic choreoathetosis;   paroxysmal non-kinesigenic dyskinesia;   paroxysmal nonkinesigenic dyskinesia
 primary_id: MESH:C537181
 alt_id: OMIM:118800
For additional species annotation, visit the Alliance of Genome Resources.


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paroxysmal nonkinesigenic dyskinesia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia 1 ClinVar PMID:25741868 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Pnkd PNKD metallo-beta-lactamase domain containing ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PAROXYSMAL NONKINESIGENIC DYSKINESIA 1
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia 1
ClinVar Annotator: match by term: Paroxysmal non-kinesigenic dyskinesia
OMIM
CTD
ClinVar
PMID:8659518, PMID:9490305, PMID:15262732, PMID:15496428, PMID:15824259, PMID:16216955, PMID:16632198, PMID:19124534, PMID:20301400, PMID:21487022, PMID:22967746, PMID:25107857, PMID:25741868, PMID:26467025, PMID:28492532, PMID:28893297 NCBI chr 9:81,566,074...81,634,531
Ensembl chr 9:81,566,074...81,634,534
JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:11179027, PMID:22101681, PMID:22120146, PMID:22131361, PMID:22209761, PMID:22243967, PMID:22399141, PMID:22623405, PMID:22744660, PMID:22782515, PMID:22832103, PMID:22845787, PMID:22870186, PMID:22875091, PMID:22877996, PMID:22985072, PMID:23077017, PMID:23077024, PMID:23077026, PMID:23126439, PMID:23180180, PMID:23182655, PMID:23299620, PMID:23343561, PMID:23532549, PMID:23535490, PMID:23768507, PMID:23771590, PMID:24074546, PMID:24370076, PMID:24609974, PMID:24661410, PMID:25457817, PMID:25502464, PMID:25522171, PMID:25595153, PMID:25667652, PMID:25741868, PMID:25915028, PMID:26384010, PMID:26446061, PMID:26467025, PMID:26544041, PMID:26561923, PMID:26598493, PMID:26598494, PMID:26621826, PMID:26717662, PMID:26876767, PMID:26993267, PMID:27123484, PMID:28074849, PMID:28492532, PMID:29334453, PMID:30311386 NCBI chr 1:198,451,042...198,454,998
Ensembl chr 1:198,451,324...198,454,914
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Pathological Conditions, Signs and Symptoms 8739
      Signs and Symptoms 5235
        Neurologic Manifestations 4189
          Dyskinesias 870
            choreatic disease 175
              paroxysmal nonkinesigenic dyskinesia 1 3
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            movement disease 1159
              Dyskinesias 870
                choreatic disease 175
                  paroxysmal nonkinesigenic dyskinesia 1 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.