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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:neuroacanthocytosis
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Accession:DOID:0050765 term browser browse the term
Definition:A neurodegenerative disease that is characterized by characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. (DO)
Synonyms:exact_synonym: acanthocytosis with neurologic disorder
 primary_id: MESH:D054546
 xref: GARD:10902;   ORDO:263440


show annotations for term's descendants           Sort by:
neuroacanthocytosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps13a vacuolar protein sorting 13A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:16,592,730...16,758,433
Ensembl chr19:16,592,730...16,758,297 		JBrowse link
G Xk X-linked Kx blood group ISO CTD Direct Evidence: marker/mechanism CTD PMID:8619554 PMID:11761473 NCBI chr  X:9,139,023...9,179,484
Ensembl chr  X:9,138,995...9,179,489 		JBrowse link
choreaacanthocytosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gna14 guanine nucleotide binding protein, alpha 14 ISO ClinVar Annotator: match by term: Chorea-acanthocytosis ClinVar PMID:15918062 NCBI chr19:16,413,031...16,590,706
Ensembl chr19:16,413,126...16,588,184 		JBrowse link
G Tcirg1 T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3 ISO ClinVar Annotator: match by term: Chorea-acanthocytosis ClinVar PMID:10888887 PMID:10942435 PMID:11532986 PMID:16199547 PMID:19448635 More... NCBI chr19:3,946,050...3,957,717
Ensembl chr19:3,946,050...3,957,133 		JBrowse link
G Vps13a vacuolar protein sorting 13A IAGP
ISO		 OMIM:200150
ClinVar Annotator: match by term: Chorea-acanthocytosis | ClinVar Annotator: match by term: VPS13A-related condition		 MouseDO
OMIM
ClinVar		 PMID:9536098 PMID:11381253 PMID:11381254 PMID:12404112 PMID:14663054 More... NCBI chr19:16,592,730...16,758,433
Ensembl chr19:16,592,730...16,758,297 		JBrowse link
McLeod syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xk X-linked Kx blood group ISO ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8004674 PMID:8619554 PMID:10426139 PMID:11261514 PMID:11703337 More... NCBI chr  X:9,139,023...9,179,484
Ensembl chr  X:9,138,995...9,179,489 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18297
    Developmental Disease 17907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17777
        genetic disease 17751
          Nervous System Heredodegenerative Disorders 3290
            neuroacanthocytosis 4
              McLeod syndrome 1
              choreaacanthocytosis 3
Path 2
Term Annotations click to browse term
  disease 18297
    disease of anatomical entity 15629
      nervous system disease 13500
        central nervous system disease 12082
          brain disease 11341
            movement disease 2558
              Dyskinesias 2176
                choreatic disease 461
                  neuroacanthocytosis 4
                    McLeod syndrome 1
                    choreaacanthocytosis 3
paths to the root