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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 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Hemiplegia ClinVar PMID:20301294 PMID:21911500 PMID:22842232 PMID:22850527 PMID:23409136 More... NCBI chr 1:89,700,645...89,729,782
Ensembl chr 1:89,700,649...89,729,825 		JBrowse link
G Cga glycoprotein hormones, alpha polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:10566621 NCBI chr 5:54,283,109...54,295,464
Ensembl chr 5:54,235,019...54,295,464 		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 chr17:26,829,153...26,877,419
Ensembl chr17:26,829,153...26,877,121 		JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Hemiplegia ClinVar PMID:15998695 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:32,388,102...32,413,663
Ensembl chr15:32,387,487...32,411,333 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Hemiplegia/hemiparesis ClinVar PMID:25741868 NCBI chr 3:70,710,862...70,845,569
Ensembl chr 3:70,710,954...70,845,279 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Hemiplegia ClinVar PMID:11804990 PMID:19056759 PMID:22581653 PMID:24033266 PMID:25741868 More... NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470 		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 subunit alpha 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alternating hemiplegia of childhood 		CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr13:87,261,964...87,286,911
Ensembl chr13:87,261,968...87,286,911 		JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:104290 | OMIM:614820
ClinVar Annotator: match by term: Alternating hemiplegia of childhood
DNA:missense mutations:exon:multiple 		CTD
MouseDO
ClinVar
RGD		 PMID:22842232 PMID:24033266 PMID:24631656 PMID:25741868 PMID:24431296 RGD:11576279 NCBI chr 1:89,700,645...89,729,782
Ensembl chr 1:89,700,649...89,729,825 		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 subunit alpha 2 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 chr13:87,261,964...87,286,911
Ensembl chr13:87,261,968...87,286,911 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Alternating hemiplegia of childhood 1 ClinVar PMID:25741868 NCBI chr19:40,425,560...40,724,810
Ensembl chr19:40,425,560...40,724,599 		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 subunit alpha 3 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 1:89,700,645...89,729,782
Ensembl chr 1:89,700,649...89,729,825 		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 ISO ClinVar Annotator: match by term: Spastic hemiplegia ClinVar PMID:25741868 PMID:34508595 NCBI chr 2:185,982,042...185,999,155
Ensembl chr 2:185,982,086...185,999,113 		JBrowse link
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: Spastic hemiplegia ClinVar PMID:25741868 PMID:26581300 PMID:28008748 PMID:28492532 PMID:28822984 More... NCBI chr 7:58,963,319...58,996,357
Ensembl chr 7:58,963,325...58,996,357 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        central nervous system disease 6393
          hemiplegia 10
            alternating hemiplegia of childhood + 3
            spastic hemiplegia 2
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        Neurologic Manifestations 5934
          Paralysis 242
            hemiplegia 10
              alternating hemiplegia of childhood + 3
              spastic hemiplegia 2
paths to the root