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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: OMIM:200150
 xref: GARD:3956;   NCI:C84926;   ORDO:2388


show annotations for term's descendants           Sort by:
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 1:213,714,993...213,900,083
Ensembl chr 1:213,716,020...213,897,423 		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 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742 		JBrowse link
G Vps13a vacuolar protein sorting 13 homolog A ISO
ISS		 OMIM:200150
ClinVar Annotator: match by term: Chorea-acanthocytosis | ClinVar Annotator: match by term: VPS13A-related condition		 OMIM
MouseDO
ClinVar		 PMID:9536098 PMID:11381253 PMID:11381254 PMID:12404112 PMID:14663054 More... NCBI chr 1:213,901,999...214,128,638
Ensembl chr 1:213,901,999...214,128,555 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          Nervous System Heredodegenerative Disorders 3255
            neuroacanthocytosis 4
              choreaacanthocytosis 3
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            movement disease 2584
              Dyskinesias 2197
                choreatic disease 460
                  neuroacanthocytosis 4
                    choreaacanthocytosis 3
paths to the root