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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 1
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Accession:DOID:9009197 term browser browse the term
Definition:Alternating hemiplegia of childhood is a rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment. Alternating hemiplegia of childhood-1 (AHC1) is caused by heterozygous mutation in the ATP1A2 gene on chromosome 1q23. (OMIM)
Synonyms:exact_synonym: AHC1
 primary_id: OMIM:104290


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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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    disease of anatomical entity 18162
      nervous system disease 14001
        central nervous system disease 12351
          hemiplegia 8
            alternating hemiplegia of childhood 2
              Alternating Hemiplegia of Childhood 1 1
Path 2
Term Annotations click to browse term
  disease 21118
    disease of anatomical entity 18162
      nervous system disease 14001
        Neurologic Manifestations 9982
          Paralysis 674
            hemiplegia 8
              alternating hemiplegia of childhood 2
                Alternating Hemiplegia of Childhood 1 1
paths to the root