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ONTOLOGY REPORT - ANNOTATIONS


Term:neuroacanthocytosis
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Accession:DOID:0050765 term browser browse the term
Definition:An inherited autosomal disorder that is characterized by neurodegeneration; orofacial and buccal DYSKINESIAS; CHOREA; and thorny-looking red cells (ACANTHOCYTES). This disorder is due to mutations of chorein which is important in protein trafficking and is encoded by Vps13a on chromosome 9q21.
Synonyms:exact_synonym: acanthocytosis with neurologic disorder
 primary_id: MESH:D054546
 alt_id: RDO:0004431
 xref: GARD:10902
For additional species annotation, visit the Alliance of Genome Resources.


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neuroacanthocytosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vps13a vacuolar protein sorting 13 homolog A JBrowse link 1 235,352,513 235,813,597 RGD:11554173
G Xk X-linked Kx blood group JBrowse link X 14,497,376 14,534,479 RGD:11554173
choreaacanthocytosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vps13a vacuolar protein sorting 13 homolog A JBrowse link 1 235,352,513 235,813,597 RGD:8554872
RGD:7240710
Neuroacanthocytosis, McLeod Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Xk X-linked Kx blood group JBrowse link X 14,497,376 14,534,479 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    Developmental Diseases 9280
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8094
        genetic disease 7612
          Nervous System Heredodegenerative Disorders 1896
            neuroacanthocytosis 2
              Neuroacanthocytosis, McLeod Type 1
              choreaacanthocytosis 1
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        central nervous system disease 8844
          brain disease 8133
            movement disease 1064
              Dyskinesias 776
                choreatic disease 170
                  neuroacanthocytosis 2
                    Neuroacanthocytosis, McLeod Type 1
                    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.