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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 13 homolog A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acanthocytosis with neurologic disorder
CTD
ClinVar
PMID:12404112 PMID:21145924 PMID:22777538 PMID:25741868 PMID:26467025 More... NCBI chr 1:223,328,784...223,555,500
Ensembl chr 1:213,901,999...214,128,555
JBrowse link
G Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:8619554 PMID:11761473 NCBI chr  X:16,108,913...16,145,322
Ensembl chr  X:13,436,418...13,472,830
JBrowse link
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 1:223,141,802...223,324,210
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 1:210,556,270...210,568,021
Ensembl chr 1:201,127,034...201,138,742
JBrowse link
G Vps13a vacuolar protein sorting 13 homolog A ISO
ISS
ClinVar Annotator: match by term: Chorea-acanthocytosis | ClinVar Annotator: match by term: Choreoacanthocytosis | ClinVar Annotator: match by term: VPS13A-related condition
OMIM:200150
OMIM
ClinVar
MouseDO
PMID:9536098 PMID:11381253 PMID:11381254 PMID:12404112 PMID:14663054 More... NCBI chr 1:223,328,784...223,555,500
Ensembl chr 1:213,901,999...214,128,555
JBrowse link
McLeod syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap47 cilia and flagella associated protein 47 ISO ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome ClinVar PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 NCBI chr  X:47,149,085...47,504,169
Ensembl chr  X:43,263,490...43,616,852
JBrowse link
G Cybb cytochrome b-245 beta chain ISO ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome ClinVar PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 NCBI chr  X:16,030,596...16,065,065
Ensembl chr  X:13,359,430...13,392,586
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome ClinVar PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 NCBI chr  X:51,070,098...53,437,845
Ensembl chr  X:47,272,331...49,504,207
JBrowse link
G Dynlt3 dynein light chain Tctex-type 3 ISO ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome ClinVar PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 NCBI chr  X:16,000,425...16,009,632
Ensembl chr  X:13,327,892...13,337,139
JBrowse link
G Fam47a family with sequence similarity 47, member A ISO ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome ClinVar PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 NCBI chr  X:42,762,231...42,763,887
Ensembl chr  X:42,762,229...42,763,883
JBrowse link
G Lancl3 LanC like family member 3 ISO ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome ClinVar PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 NCBI chr  X:13,478,499...13,609,934
Ensembl chr  X:13,480,311...13,609,678
JBrowse link
G Mageb16 MAGE family member B16 ISO ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome ClinVar PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 NCBI chr  X:43,693,205...43,725,664
Ensembl chr  X:43,693,211...43,725,657
JBrowse link
G Prrg1 proline rich and Gla domain 1 ISO ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome ClinVar PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 NCBI chr  X:42,494,256...42,606,612
Ensembl chr  X:42,494,256...42,606,588
JBrowse link
G Tmem47 transmembrane protein 47 ISO ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome ClinVar PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 NCBI chr  X:49,338,532...49,365,026
Ensembl chr  X:45,421,405...45,447,900
JBrowse link
G Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome
OMIM
CTD
ClinVar
PMID:8004674 PMID:8619554 PMID:10426139 PMID:11261514 PMID:11703337 More... NCBI chr  X:16,108,913...16,145,322
Ensembl chr  X:13,436,418...13,472,830
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    Developmental Disease 14667
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13715
        genetic disease 13381
          Nervous System Heredodegenerative Disorders 3355
            neuroacanthocytosis 13
              McLeod syndrome 10
              choreaacanthocytosis 3
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        central nervous system disease 12636
          brain disease 11855
            movement disease 2633
              Dyskinesias 2234
                choreatic disease 470
                  neuroacanthocytosis 13
                    McLeod syndrome 10
                    choreaacanthocytosis 3
paths to the root