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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;   VPS13A-RELATED CONDITION;   chorea acanthocytosis;   chorea acanthocytosis syndrome;   choreo-acanthocytosis;   choreoacanthocytosis
 primary_id: MIM:200150
 xref: GARD:3956;   NCI:C84926;   ORDO:2388


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choreaacanthocytosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNA14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: Chorea-acanthocytosis ClinVar PMID:15918062 NCBI chr 1:230,341,947...230,545,123
Ensembl chr 1:230,341,942...230,546,120 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 ISO ClinVar Annotator: match by term: Chorea-acanthocytosis ClinVar PMID:10888887 PMID:10942435 PMID:11532986 PMID:16199547 PMID:19448635 More... NCBI chr 2:4,844,627...4,860,562
Ensembl chr 2:4,844,637...4,860,498 		JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A ISO ClinVar Annotator: match by term: Chorea-acanthocytosis | ClinVar Annotator: match by term: Choreaacanthocytosis | ClinVar Annotator: match by term: Choreoacanthocytosis | ClinVar Annotator: match by term: VPS13A-related condition OMIM
ClinVar		 PMID:9536098 PMID:11381253 PMID:11381254 PMID:12404112 PMID:14663054 More... NCBI chr 1:230,069,339...230,331,343
Ensembl chr 1:230,069,368...230,331,200 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15437
    Developmental Disease 13502
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12626
        genetic disease 12336
          Nervous System Heredodegenerative Disorders 3311
            neuroacanthocytosis 13
              choreaacanthocytosis 3
Path 2
Term Annotations click to browse term
  disease 15437
    disease of anatomical entity 15106
      nervous system disease 13260
        central nervous system disease 11851
          brain disease 11123
            movement disease 2511
              Dyskinesias 2137
                choreatic disease 457
                  neuroacanthocytosis 13
                    choreaacanthocytosis 3
paths to the root