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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:choreaacanthocytosis
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Accession:DOID:0050766 term browser browse the term
Definition:A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21. (DO)
Synonyms:exact_synonym: CHAC;   Levine-Critchley syndrome;   chorea acanthocytosis;   chorea acanthocytosis syndrome;   choreo-acanthocytosis;   choreoacanthocytosis
 primary_id: OMIM:200150
 xref: GARD:3956;   NCI:C84926;   ORDO:2388
For additional species annotation, visit the Alliance of Genome Resources.



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choreaacanthocytosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps13a vacuolar protein sorting 13 homolog A ISO ClinVar Annotator: match by term: Chorea-acanthocytosis OMIM
ClinVar
PMID:11381253 PMID:11381254 PMID:12404112 PMID:14663054 PMID:15824261 More... NCBI chr 1:213,901,999...214,128,638
Ensembl chr 1:213,901,999...214,128,555
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          Nervous System Heredodegenerative Disorders 2394
            neuroacanthocytosis 2
              choreaacanthocytosis 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        central nervous system disease 11323
          brain disease 10618
            movement disease 1737
              Dyskinesias 1394
                choreatic disease 398
                  neuroacanthocytosis 2
                    choreaacanthocytosis 1
paths to the root