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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:hemiplegia
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Accession:DOID:10969 term browser browse the term
Definition:A central nervous system disease that is characterized by the complete paralysis of half of the body. (DO)
Synonyms:exact_synonym: Flaccid Hemiplegia;   Hemiplegias;   Infantile Hemiplegia;   Infantile Hemiplegias;   Monoplegia;   Monoplegias;   Post-Ictal Hemiplegia;   crossed hemiplegia;   crossed hemiplegias;   flaccid hemiplegias;   post-ictal hemiplegias;   postnatal infantile hemiplegia;   transient hemiplegia;   transient hemiplegias
 broad_synonym: HEMIPLEGIA/HEMIPARESIS
 primary_id: MESH:D006429
 xref: EFO:0009453;   GARD:6583;   ICD9CM:343.4
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
hemiplegia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a2 ATPase, Na+/K+ transporting, alpha 2 polypeptide ISO ClinVar Annotator: match by term: Hemiplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:172,099,276...172,125,631
Ensembl chr 1:172,099,276...172,125,631 		JBrowse link
G Atp1a3 ATPase, Na+/K+ transporting, alpha 3 polypeptide ISO ClinVar Annotator: match by term: Hemiplegia ClinVar PMID:20301294 PMID:21911500 PMID:22842232 PMID:22850527 PMID:23409136 More... NCBI chr 7:24,677,592...24,705,502
Ensembl chr 7:24,677,592...24,705,383 		JBrowse link
G Cga glycoprotein hormones, alpha subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:10566621 NCBI chr 4:34,893,779...34,907,374
Ensembl chr 4:34,893,779...34,907,370 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Hemiplegia ClinVar PMID:21606396 PMID:23292937 PMID:23861362 PMID:24033266 PMID:24503780 More... NCBI chr13:38,335,270...38,382,553
Ensembl chr13:38,335,270...38,382,553 		JBrowse link
G Myh6 myosin, heavy polypeptide 6, cardiac muscle, alpha ISO ClinVar Annotator: match by term: Hemiplegia ClinVar PMID:15998695 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:55,179,378...55,205,553
Ensembl chr14:55,179,378...55,204,384 		JBrowse link
G Scn2a sodium channel, voltage-gated, type II, alpha ISO ClinVar Annotator: match by term: Hemiplegia/hemiparesis ClinVar PMID:25741868 NCBI chr 2:65,451,108...65,597,791
Ensembl chr 2:65,451,115...65,597,791 		JBrowse link
G Scn5a sodium channel, voltage-gated, type V, alpha ISO ClinVar Annotator: match by term: Hemiplegia ClinVar PMID:11804990 PMID:19056759 PMID:22581653 PMID:24033266 PMID:25741868 More... NCBI chr 9:119,312,470...119,408,096
Ensembl chr 9:119,312,474...119,408,082 		JBrowse link
alternating hemiplegia of childhood term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a2 ATPase, Na+/K+ transporting, alpha 2 polypeptide ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alternating hemiplegia of childhood		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 1:172,099,276...172,125,631
Ensembl chr 1:172,099,276...172,125,631 		JBrowse link
G Atp1a3 ATPase, Na+/K+ transporting, alpha 3 polypeptide ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alternating hemiplegia of childhood
OMIM:104290 | OMIM:614820
DNA:missense mutations:exon:multiple		 CTD
ClinVar
MouseDO
RGD		 PMID:22842232 PMID:24033266 PMID:24631656 PMID:25741868 PMID:24431296 RGD:11576279 NCBI chr 7:24,677,592...24,705,502
Ensembl chr 7:24,677,592...24,705,383 		JBrowse link
Alternating Hemiplegia of Childhood 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a2 ATPase, Na+/K+ transporting, alpha 2 polypeptide ISO ClinVar Annotator: match by term: Alternating hemiplegia of childhood 1 OMIM
ClinVar		 PMID:9536098 PMID:11439943 PMID:12023326 PMID:14667076 PMID:15159495 More... NCBI chr 1:172,099,276...172,125,631
Ensembl chr 1:172,099,276...172,125,631 		JBrowse link
Alternating Hemiplegia of Childhood 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase, Na+/K+ transporting, alpha 3 polypeptide ISO ClinVar Annotator: match by term: Alternating hemiplegia of childhood 2 OMIM
ClinVar		 PMID:8733056 PMID:9536098 PMID:11061257 PMID:12112218 PMID:15260953 More... NCBI chr 7:24,677,592...24,705,502
Ensembl chr 7:24,677,592...24,705,383 		JBrowse link
spastic hemiplegia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tars2 threonyl-tRNA synthetase 2, mitochondrial (putative) ISO ClinVar Annotator: match by term: Spastic hemiplegia ClinVar PMID:25741868 NCBI chr 3:95,647,286...95,663,677
Ensembl chr 3:95,647,288...95,667,518 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18281
    disease of anatomical entity 15565
      nervous system disease 13408
        central nervous system disease 12004
          hemiplegia 8
            alternating hemiplegia of childhood + 2
            spastic hemiplegia 1
Path 2
Term Annotations click to browse term
  disease 18281
    disease of anatomical entity 15565
      nervous system disease 13408
        Neurologic Manifestations 9700
          Paralysis 689
            hemiplegia 8
              alternating hemiplegia of childhood + 2
              spastic hemiplegia 1
paths to the root