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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:Benign Familial Chorea
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Accession:DOID:9003905 term browser browse the term
Synonyms:primary_id: MESH:C565851
 alt_id: OMIM:215450


show annotations for term's descendants           Sort by:
Benign Familial Chorea term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx2-1 NK2 homeobox 1 ISO DNA:splice-site mutation:intron:c.464-9C>A (human)
DNA:nonsense mutation:exon 2:p.S145X (c.609C>A) (human)
DNA:missense mutations:exon:p.W238L (713G>T), p.R243S (727C>A) (human)		 RGD PMID:22825795 PMID:18788921 PMID:11971878 RGD:12914772, RGD:11073166, RGD:12914773 NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      nervous system disease 14120
        Neurologic Manifestations 10113
          Dyskinesias 2211
            choreatic disease 469
              Benign Familial Chorea 1
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      nervous system disease 14120
        central nervous system disease 12440
          brain disease 11678
            movement disease 2599
              Dyskinesias 2211
                choreatic disease 469
                  Benign Familial Chorea 1
paths to the root