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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
For additional species annotation, visit the Alliance of Genome Resources.


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 13 homolog A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:235,352,513...235,813,597
Ensembl chr 1:235,653,121...235,813,030
JBrowse link
G Xk X-linked Kx blood group ISO CTD Direct Evidence: marker/mechanism CTD PMID:8619554 PMID:11761473 NCBI chr  X:14,497,376...14,534,479
Ensembl chr  X:14,498,119...14,534,473
JBrowse link
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
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 OMIM:300842 OMIM
ClinVar
PMID:8004674 PMID:8619554 PMID:10426139 PMID:11261514 PMID:11703337 PMID:11761473 PMID:13860532 NCBI chr  X:14,497,376...14,534,479
Ensembl chr  X:14,498,119...14,534,473
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          Nervous System Heredodegenerative Disorders 1977
            neuroacanthocytosis 2
              McLeod syndrome 1
              choreaacanthocytosis 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            movement disease 1237
              Dyskinesias 905
                choreatic disease 169
                  neuroacanthocytosis 2
                    McLeod syndrome 1
                    choreaacanthocytosis 1
paths to the root