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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;   MIM:612067;   PRKRA-RELATED CONDITION
 primary_id: MESH:C567430
 xref: GARD:10539;   ICD10CM:G24.1;   NCI:C168729;   ORDO:210571


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 3:82,016,647...82,030,913
Ensembl chr 3:82,016,513...82,028,573 		JBrowse link
G Pjvk pejvakin ISO ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:82,002,106...82,012,273
Ensembl chr 3:82,002,368...82,012,451 		JBrowse link
G Plekha3 pleckstrin homology domain containing A3 ISO ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:28492532 NCBI chr 3:82,030,653...82,051,866
Ensembl chr 3:82,029,034...82,052,553 		JBrowse link
G Prkra protein activator of interferon induced protein kinase EIF2AK2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dystonia 16 | ClinVar Annotator: match by term: PRKRA-related condition 		OMIM
CTD
ClinVar		 PMID:18243799 PMID:18420150 PMID:24033266 PMID:24142417 PMID:25142429 More... NCBI chr 3:81,982,669...82,002,028
Ensembl chr 3:81,982,673...82,001,525 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Dystonia 16 ClinVar PMID:28492532 NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:82,059,648...82,332,171 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        Neurologic Manifestations 10446
          Dyskinesias 2229
            dystonia 501
              multifocal dystonia 6
                dystonia 16 5
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            movement disease 2631
              Dyskinesias 2229
                dystonia 501
                  multifocal dystonia 6
                    dystonia 16 5
paths to the root