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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:dystonia 16
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Accession:DOID:0090048 term browser browse the term
Definition:A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the protein activator of interferon induced protein kinase EIF2AK2 (PRKRA) gene on chromosome 2q31. (DO)
Synonyms:exact_synonym: DYT16;   OMIM:612067
 primary_id: MESH:C567430
 alt_id: RDO:0015500
 xref: GARD:10539;   ICD10CM:G24.1;   NCI:C168729;   ORDO:210571
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
dystonia 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp7 FKBP prolyl isomerase 7 ISO ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:28492532 NCBI chr 3:63,522,480...63,535,835
Ensembl chr 3:63,522,403...63,535,991
JBrowse link
G Pjvk pejvakin ISO ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:24033266, PMID:28492532 NCBI chr 3:63,508,386...63,518,163
Ensembl chr 3:63,510,293...63,518,147
JBrowse link
G Plekha3 pleckstrin homology domain containing A3 ISO ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:28492532 NCBI chr 3:63,536,166...63,557,378
Ensembl chr 3:63,536,166...63,557,361
JBrowse link
G Prkra protein activator of interferon induced protein kinase EIF2AK2 ISO ClinVar Annotator: match by term: Dystonia 16
ClinVar Annotator: match by OMIM:612067
OMIM
ClinVar
PMID:18243799, PMID:18420150, PMID:24033266, PMID:24142417, PMID:25142429, PMID:25741868, PMID:26231208, PMID:26990861, PMID:28492532 NCBI chr 3:63,489,081...63,507,918
Ensembl chr 3:63,489,074...63,507,926
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:28492532 NCBI chr 3:63,565,160...63,837,815 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        Neurologic Manifestations 4137
          Dyskinesias 867
            dystonia 161
              multifocal dystonia 6
                dystonia 16 5
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            movement disease 1156
              Dyskinesias 867
                dystonia 161
                  multifocal dystonia 6
                    dystonia 16 5
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.