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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
 alt_id: RDO:9003222
 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: Choreoacanthocytosis ClinVar
OMIM
PMID:11381253, PMID:11381254, PMID:12404112, PMID:14663054, PMID:15824261, PMID:15918062, PMID:21145924, PMID:21598378, PMID:22777538, PMID:24033266, PMID:25741868, PMID:26467025, PMID:26870756, PMID:28492532, PMID:30311386 NCBI chr 1:235,352,513...235,813,597
Ensembl chr 1:235,653,121...235,813,030
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          Nervous System Heredodegenerative Disorders 1954
            neuroacanthocytosis 2
              choreaacanthocytosis 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            movement disease 1158
              Dyskinesias 869
                choreatic disease 175
                  neuroacanthocytosis 2
                    choreaacanthocytosis 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.