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
Accession: DOID:0050765
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
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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 PMID:28492532 More...
NCBI chr 1:223,328,784...223,555,500
Ensembl chr 1:213,901,999...214,128,555
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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
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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
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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 PMID:25525159 PMID:25741868 PMID:28492532 More...
NCBI chr 1:210,556,270...210,568,021
Ensembl chr 1:201,127,034...201,138,742
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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 PMID:15824261 PMID:15918062 PMID:16199547 PMID:17516458 PMID:17576681 PMID:17998451 PMID:21145924 PMID:21598378 PMID:22038564 PMID:22777538 PMID:24033266 PMID:24974674 PMID:25733999 PMID:25741868 PMID:26467025 PMID:26870756 PMID:27400454 PMID:28492532 PMID:31192303 PMID:32131761 More...
NCBI chr 1:223,328,784...223,555,500
Ensembl chr 1:213,901,999...214,128,555
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:11761473 PMID:11961232 PMID:13860532 PMID:17133513 PMID:17302777 PMID:25741868 PMID:25934153 PMID:28492532 PMID:28555782 PMID:30128557 PMID:30800707 More...
NCBI chr X:16,108,913...16,145,322
Ensembl chr X:13,436,418...13,472,830
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