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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:basal ganglia calcification
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Accession:DOID:0060230 term browser browse the term
Definition:A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills. (DO)
Synonyms:exact_synonym: Fahr disease
 primary_id: RDO:9004937
 xref: NCI:C129973;   OMIM:PS213600
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
basal ganglia calcification term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfb platelet derived growth factor subunit B ISS OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISS OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISS OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr16:74,318,287...74,408,030
Ensembl chr16:74,317,899...74,408,030
JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Basal ganglia calcification ClinVar PMID:28492532, PMID:30311386 NCBI chr 3:113,999,600...114,064,438
Ensembl chr 3:113,999,719...114,065,170
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Basal ganglia calcification ClinVar PMID:30311386 NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214
JBrowse link
Aicardi-Goutieres syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase, RNA-specific ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
DNA:mutations:exons:
CTD
ClinVar
PMID:9889202, PMID:12916015, PMID:15146470, PMID:16536805, PMID:19060901, PMID:20301648, PMID:22129056, PMID:23001123, PMID:23621630, PMID:24033266, PMID:24183309, PMID:24262145, PMID:24950769, PMID:25456137, PMID:25604658, PMID:25741868, PMID:26629815, PMID:26802932, PMID:28395385, PMID:28492532, PMID:29221912, PMID:23001123 RGD:11069491 NCBI chr 2:189,045,551...189,085,448
Ensembl chr 2:189,062,443...189,083,236
JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome
ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME
ClinVar PMID:23602593, PMID:24033266, PMID:24183309, PMID:25582466, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 8:117,797,954...117,811,989
Ensembl chr 8:117,797,842...117,811,975
JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24686847 NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
JBrowse link
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar NCBI chr 1:220,967,795...220,974,596
Ensembl chr 1:220,967,796...220,974,597
JBrowse link
G Rnaseh2a ribonuclease H2, subunit A ISO
ISS
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846
ClinVar
MouseDO
PMID:17846997, PMID:20131292, PMID:21454563, PMID:23592335, PMID:24033266 NCBI chr19:26,074,980...26,084,780
Ensembl chr19:26,074,987...26,084,679
JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16845400, PMID:17846997, PMID:18069026, PMID:18414213, PMID:18754903, PMID:19015152, PMID:19034401, PMID:19694776, PMID:20131292, PMID:21177854, PMID:22149989, PMID:24033266, PMID:25243380, PMID:25274781, PMID:25343331, PMID:25604658, PMID:25741868, PMID:26182405, PMID:26467025, PMID:26846091, PMID:26903602, PMID:27009121, PMID:28492532, PMID:28762473, PMID:30311386 NCBI chr15:45,422,010...45,472,792
Ensembl chr15:45,422,010...45,464,892
JBrowse link
G Rnaseh2c ribonuclease H2, subunit C ISO
ISS
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846
ClinVar
MouseDO
PMID:28492532 NCBI chr 1:220,966,626...220,967,717
Ensembl chr 1:220,966,655...220,967,825
JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
CTD
ClinVar
PMID:19525956, PMID:20653736, PMID:21204240, PMID:22461318, PMID:22691373, PMID:22973040, PMID:23364794, PMID:24033266, PMID:25604658, PMID:25741868, PMID:27604406, PMID:28229507, PMID:28492532, PMID:30275001 NCBI chr 3:153,210,829...153,250,705
Ensembl chr 3:153,210,829...153,250,641
JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by OMIM:225750
ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16845398, PMID:23602593, PMID:24033266, PMID:24183309, PMID:25582466, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 8:117,796,127...117,797,427
Ensembl chr 8:117,796,128...117,797,427
JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:153,812,312...153,834,374
Ensembl chr 4:153,805,993...153,834,430
JBrowse link
Aicardi-Goutieres Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1
ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1, autosomal dominant
ClinVar PMID:1821204, PMID:3174024, PMID:16845398, PMID:16960810, PMID:17293595, PMID:17357087, PMID:17440703, PMID:17660818, PMID:17660820, PMID:17846997, PMID:18583934, PMID:18805785, PMID:20131292, PMID:20799324, PMID:20871604, PMID:21270825, PMID:21808053, PMID:21937424, PMID:22829693, PMID:23602593, PMID:23881107, PMID:23989343, PMID:24033266, PMID:24088041, PMID:24183309, PMID:24224166, PMID:24300241, PMID:25138095, PMID:25582466, PMID:25604658, PMID:25741868, PMID:25848017, PMID:25906927, PMID:26150267, PMID:26182405, PMID:26467025, PMID:26633542, PMID:26633545, PMID:26691497, PMID:26938784, PMID:27391121, PMID:28089741, PMID:28492532, PMID:28750028, PMID:29239743, PMID:29387804, PMID:30219631 NCBI chr 8:117,797,954...117,811,989
Ensembl chr 8:117,797,842...117,811,975
JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1
ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1, autosomal dominant
ClinVar
OMIM
PMID:1821204, PMID:3174024, PMID:16845398, PMID:16960810, PMID:17293595, PMID:17357087, PMID:17440703, PMID:17660818, PMID:17660820, PMID:17846997, PMID:18583934, PMID:18805785, PMID:20131292, PMID:20799324, PMID:20871604, PMID:21270825, PMID:21808053, PMID:21937424, PMID:22829693, PMID:23602593, PMID:23881107, PMID:23989343, PMID:24033266, PMID:24088041, PMID:24183309, PMID:24224166, PMID:24300241, PMID:25138095, PMID:25582466, PMID:25604658, PMID:25741868, PMID:25848017, PMID:25906927, PMID:26150267, PMID:26182405, PMID:26467025, PMID:26633542, PMID:26633545, PMID:26691497, PMID:26938784, PMID:27391121, PMID:28089741, PMID:28492532, PMID:28750028, PMID:29239743, PMID:29387804, PMID:30219631 NCBI chr 8:117,796,127...117,797,427
Ensembl chr 8:117,796,128...117,797,427
JBrowse link
Aicardi-Goutieres Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 2 ClinVar
OMIM
PMID:16845400, PMID:17846997, PMID:18069026, PMID:18414213, PMID:18754903, PMID:19015152, PMID:19034401, PMID:19694776, PMID:20131292, PMID:21177854, PMID:22149989, PMID:24033266, PMID:24183309, PMID:25243380, PMID:25274781, PMID:25343331, PMID:25500883, PMID:25604658, PMID:25741868, PMID:26182405, PMID:26467025, PMID:26846091, PMID:26903602, PMID:27009121, PMID:28492532, PMID:28762473, PMID:30311386, PMID:32488064 NCBI chr15:45,422,010...45,472,792
Ensembl chr15:45,422,010...45,464,892
JBrowse link
Aicardi-Goutieres Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 3 ClinVar NCBI chr 1:220,967,795...220,974,596
Ensembl chr 1:220,967,796...220,974,597
JBrowse link
G Rnaseh2c ribonuclease H2, subunit C ISO ClinVar Annotator: match by OMIM:610329
ClinVar Annotator: match by term: Aicardi Goutieres syndrome 3
OMIM
ClinVar
PMID:16845400, PMID:17846997, PMID:20131292, PMID:23322642, PMID:25500883, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29150899, PMID:29389947 NCBI chr 1:220,966,626...220,967,717
Ensembl chr 1:220,966,655...220,967,825
JBrowse link
Aicardi-Goutieres Syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnaseh2a ribonuclease H2, subunit A ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 4
ClinVar Annotator: match by OMIM:610333
OMIM
ClinVar
PMID:15870678, PMID:16845400, PMID:17846997, PMID:20131292, PMID:21454563, PMID:23592335, PMID:24033266, PMID:24183309, PMID:24300241, PMID:25500883, PMID:25604658, PMID:25741868, PMID:26467025, PMID:27943079, PMID:28492532 NCBI chr19:26,074,980...26,084,780
Ensembl chr19:26,074,987...26,084,679
JBrowse link
Aicardi-Goutieres Syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 5
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612952
OMIM
ClinVar
CTD
PMID:19525956, PMID:20358604, PMID:20653736, PMID:20842748, PMID:21102625, PMID:21204240, PMID:21402907, PMID:22174685, PMID:22461318, PMID:22691373, PMID:22973040, PMID:24033266, PMID:24035396, PMID:24183309, PMID:24316776, PMID:25604658, PMID:25741868, PMID:26467025, PMID:27604406, PMID:28229507, PMID:28492532, PMID:30275001 NCBI chr 3:153,210,829...153,250,705
Ensembl chr 3:153,210,829...153,250,641
JBrowse link
G Tldc2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:153,195,295...153,208,118
Ensembl chr 3:153,197,644...153,207,816
JBrowse link
Aicardi-Goutieres Syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6
ClinVar Annotator: match by term: Aicardi-goutieres syndrome 6
ClinVar Annotator: match by OMIM:615010
OMIM
ClinVar
PMID:9889202, PMID:12916015, PMID:15146470, PMID:15955093, PMID:16536805, PMID:16817193, PMID:19017046, PMID:19060901, PMID:20301648, PMID:22129056, PMID:23001123, PMID:23621630, PMID:24033266, PMID:24183309, PMID:24262145, PMID:24950769, PMID:25243380, PMID:25326637, PMID:25456137, PMID:25604658, PMID:25741868, PMID:26372505, PMID:26629815, PMID:26802932, PMID:27937139, PMID:28395385, PMID:28492532, PMID:28561207, PMID:29221912, PMID:30311386, PMID:32996714 NCBI chr 2:189,045,551...189,085,448
Ensembl chr 2:189,062,443...189,083,236
JBrowse link
Aicardi-Goutieres Syndrome 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7
ClinVar Annotator: match by term: Aicardi-goutieres syndrome 7
ClinVar Annotator: match by OMIM:615846
OMIM
ClinVar
PMID:21070929, PMID:24686847, PMID:24995871, PMID:25243380, PMID:25620204, PMID:25741868, PMID:26284909, PMID:28319323, PMID:28492532, PMID:28605144, PMID:29782060, PMID:30219631, PMID:30311386, PMID:30593198, PMID:30965144, PMID:31898846 NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
JBrowse link
Idiopathic Basal Ganglia Calcification 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna6 cholinergic receptor nicotinic alpha 6 subunit ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:68,860,018...68,866,718
Ensembl chr16:68,860,018...68,866,718
JBrowse link
G Chrnb3 cholinergic receptor nicotinic beta 3 subunit ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:68,876,442...68,913,628
Ensembl chr16:68,875,709...68,913,628
JBrowse link
G Fnta farnesyltransferase, CAAX box, alpha ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:70,834,957...70,854,724
Ensembl chr16:70,834,957...70,854,724
JBrowse link
G Hook3 hook microtubule-tethering protein 3 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:70,710,347...70,818,789 JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23913003 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:70,684,886...70,710,147
Ensembl chr16:70,687,487...70,705,128
JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
ClinVar Annotator: match by OMIM:213600
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:22327515, PMID:23334463, PMID:25178512, PMID:25741868, PMID:27726124, PMID:28477710, PMID:28492532 NCBI chr16:74,318,287...74,408,030
Ensembl chr16:74,317,899...74,408,030
JBrowse link
G Smim19 small integral membrane protein 19 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:74,408,085...74,422,070
Ensembl chr16:74,408,183...74,422,215
JBrowse link
G Thap1 THAP domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:70,661,360...70,665,831
Ensembl chr16:70,661,320...70,665,831
JBrowse link
Idiopathic Basal Ganglia Calcification 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by OMIM:615007 OMIM
ClinVar
PMID:23255827, PMID:24796542 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
JBrowse link
Idiopathic Basal Ganglia Calcification 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfb platelet derived growth factor subunit B ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 5
ClinVar Annotator: match by OMIM:615483
OMIM
ClinVar
PMID:21409505, PMID:23913003, PMID:25741868 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
Idiopathic Basal Ganglia Calcification 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xpr1 xenotropic and polytropic retrovirus receptor 1 ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 6 ClinVar
OMIM
PMID:886353, PMID:25741868, PMID:25938945 NCBI chr13:72,918,552...73,056,785
Ensembl chr13:72,918,490...73,056,875
JBrowse link
Idiopathic Basal Ganglia Calcification 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myorg myogenesis regulating glycosidase ISO ClinVar Annotator: match by term: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE ClinVar
OMIM
PMID:25741868, PMID:29910000, PMID:30460687, PMID:30589467, PMID:30649222, PMID:30656188, PMID:31009047 NCBI chr 5:57,873,404...57,882,008
Ensembl chr 5:57,876,498...57,881,944
JBrowse link
Idiopathic Basal Ganglia Calcification 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jam2 junctional adhesion molecule 2 ISO ClinVar Annotator: match by term: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE OMIM
ClinVar
PMID:26136916, PMID:31851307, PMID:32142645 NCBI chr11:24,235,310...24,285,279
Ensembl chr11:24,266,345...24,285,275
JBrowse link
immunodeficiency 38 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Isg15 ISG15 ubiquitin-like modifier ISO ClinVar Annotator: match by OMIM:616126
ClinVar Annotator: match by term: Immunodeficiency 38 with basal ganglia calcification
ClinVar
OMIM
PMID:22859821, PMID:25307056, PMID:25741868, PMID:28492532 NCBI chr 5:173,624,862...173,629,124
Ensembl chr 5:173,624,310...173,626,248
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        mineral metabolism disease 445
          calcium metabolism disease 273
            calcinosis 243
              basal ganglia calcification 27
                Aicardi-Goutieres syndrome + 11
                Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 0
                Idiopathic Basal Ganglia Calcification 1 10
                Idiopathic Basal Ganglia Calcification 4 1
                Idiopathic Basal Ganglia Calcification 5 1
                Idiopathic Basal Ganglia Calcification 6 1
                Idiopathic Basal Ganglia Calcification 7 1
                Idiopathic Basal Ganglia Calcification 8 1
                Idiopathic Basal Ganglia Calcification, Childhood Onset 0
                immunodeficiency 38 1
Path 2
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        acquired metabolic disease 2786
          mineral metabolism disease 445
            calcium metabolism disease 273
              calcinosis 243
                basal ganglia calcification 27
                  Aicardi-Goutieres syndrome + 11
                  Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 0
                  Idiopathic Basal Ganglia Calcification 1 10
                  Idiopathic Basal Ganglia Calcification 4 1
                  Idiopathic Basal Ganglia Calcification 5 1
                  Idiopathic Basal Ganglia Calcification 6 1
                  Idiopathic Basal Ganglia Calcification 7 1
                  Idiopathic Basal Ganglia Calcification 8 1
                  Idiopathic Basal Ganglia Calcification, Childhood Onset 0
                  immunodeficiency 38 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.