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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:familial hemiplegic migraine 2
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Accession:DOID:0111182 term browser browse the term
Definition:A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in ATP1A2 on 1q23.2. (DO)
Synonyms:exact_synonym: FHM2;   Familial Hemiplegic Migraine, Type 2;   MHP2
 narrow_synonym: MHP2 MIGRAINE, FAMILIAL BASILAR
 primary_id: MESH:C537246
 alt_id: OMIM:602481
 xref: GARD:10095



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Term paths to the root
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Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            Headache Disorders 66
              Primary Headache Disorders 66
                migraine 65
                  migraine with aura 21
                    familial hemiplegic migraine 14
                      familial hemiplegic migraine 2 1
paths to the root