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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:alternating hemiplegia of childhood
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Accession:DOID:0050635 term browser browse the term
Definition:A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body. (DO)
Synonyms:exact_synonym: AHC;   alternating hemiplegia;   alternating hemiplegia syndrome
 primary_id: MESH:C536589
 xref: GARD:11;   ICD10CM:G98;   OMIM:PS104290;   ORDO:2131


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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 chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544 		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 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918 		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 chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544 		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 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21112
    disease of anatomical entity 18151
      nervous system disease 13991
        central nervous system disease 12338
          hemiplegia 8
            alternating hemiplegia of childhood 2
              Alternating Hemiplegia of Childhood 1 1
              Alternating Hemiplegia of Childhood 2 1
Path 2
Term Annotations click to browse term
  disease 21112
    disease of anatomical entity 18151
      nervous system disease 13991
        Neurologic Manifestations 9971
          Paralysis 674
            hemiplegia 8
              alternating hemiplegia of childhood 2
                Alternating Hemiplegia of Childhood 1 1
                Alternating Hemiplegia of Childhood 2 1
paths to the root