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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 2
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Accession:DOID:9001300 term browser browse the term
Definition:Alternating hemiplegia of childhood is a rare syndrome characterized by infantile onset of episodic hemi- or quadriplegia. Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment. Alternating hemiplegia of childhood-2 (AHC2) is caused by heterozygous mutation in the ATP1A3 gene on chromosome 19q13. (OMIM)
Synonyms:exact_synonym: AHC2
 primary_id: OMIM:614820


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    disease of anatomical entity 18162
      nervous system disease 14004
        central nervous system disease 12353
          hemiplegia 8
            alternating hemiplegia of childhood 2
              Alternating Hemiplegia of Childhood 2 1
Path 2
Term Annotations click to browse term
  disease 21122
    disease of anatomical entity 18162
      nervous system disease 14004
        Neurologic Manifestations 9984
          Paralysis 674
            hemiplegia 8
              alternating hemiplegia of childhood 2
                Alternating Hemiplegia of Childhood 2 1
paths to the root