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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 Basilar Migraine
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Accession:DOID:9005462 term browser browse the term
Synonyms:primary_id: MESH:C566540
 alt_id: RDO:0014868


show annotations for term's descendants           Sort by:
Familial Basilar Migraine 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: Migraine, familial basilar ClinVar PMID:16344534 PMID:18498390 PMID:23954377 PMID:25741868 PMID:28492532 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 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            Headache Disorders 65
              Primary Headache Disorders 65
                migraine 64
                  Familial Basilar Migraine 1
paths to the root