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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 Annotator: match by term: Choreaacanthocytosis
ClinVar
OMIM
PMID:11381253 PMID:11381254 PMID:12404112 PMID:14663054 PMID:15824261 PMID:15918062 PMID:17998451 PMID:21145924 PMID:21598378 PMID:22777538 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26870756 PMID:27400454 PMID:28492532 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 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          Nervous System Heredodegenerative Disorders 1915
            neuroacanthocytosis 2
              choreaacanthocytosis 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            movement disease 1094
              Dyskinesias 797
                choreatic disease 170
                  neuroacanthocytosis 2
                    choreaacanthocytosis 1
paths to the root