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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: MIM: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 6:79,731,677...79,735,952
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 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        Neurologic Manifestations 10463
          Dyskinesias 2232
            choreatic disease 470
              Benign Familial Chorea 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        central nervous system disease 12639
          brain disease 11857
            movement disease 2633
              Dyskinesias 2232
                choreatic disease 470
                  Benign Familial Chorea 1
paths to the root