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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


show annotations for term's descendants           Sort by:
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 IAGP
EXP		 ClinVar Annotator: match by term: Alternating hemiplegia of childhood
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:25741868 PMID:28492532 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP
ISS
EXP		 DNA:missense mutations:exon:multiple
OMIM:104290 | OMIM:614820
ClinVar Annotator: match by term: Alternating hemiplegia of childhood
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
CTD
RGD		 PMID:22842232 PMID:24033266 PMID:24631656 PMID:25741868 PMID:24431296 RGD:11576279 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G LOC126805890 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:160093987-160095186 IAGP ClinVar Annotator: match by term: Alternating hemiplegia of childhood ClinVar NCBI chr 1:160,124,197...160,125,396 JBrowse link
G LOC130064543 ATAC-STARR-seq lymphoblastoid silent region 10681 IAGP ClinVar Annotator: match by term: Alternating hemiplegia of childhood ClinVar NCBI chr19:41,993,964...41,994,403 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 IAGP 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 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591 		JBrowse link
G LOC126805890 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:160093987-160095186 IAGP ClinVar Annotator: match by term: Alternating hemiplegia of childhood 1 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:160,124,197...160,125,396 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 IAGP ClinVar Annotator: match by term: Alternating hemiplegia of childhood 2 ClinVar
OMIM		 PMID:8733056 PMID:9536098 PMID:11061257 PMID:12112218 PMID:15260953 More... NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G LOC130064543 ATAC-STARR-seq lymphoblastoid silent region 10681 IAGP ClinVar Annotator: match by term: Alternating hemiplegia of childhood 2 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:41,993,964...41,994,403 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40491
    disease of anatomical entity 31733
      nervous system disease 25587
        central nervous system disease 22854
          hemiplegia 10
            alternating hemiplegia of childhood 4
              Alternating Hemiplegia of Childhood 1 2
              Alternating Hemiplegia of Childhood 2 2
Path 2
Term Annotations click to browse term
  disease 40491
    disease of anatomical entity 31733
      nervous system disease 25587
        Neurologic Manifestations 14795
          Paralysis 888
            hemiplegia 10
              alternating hemiplegia of childhood 4
                Alternating Hemiplegia of Childhood 1 2
                Alternating Hemiplegia of Childhood 2 2
paths to the root