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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:intracranial aneurysm
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Accession:DOID:10941 term browser browse the term
Definition:Abnormal outpouching in the wall of intracranial blood vessels. Most common are the saccular (berry) aneurysms located at branch points in CIRCLE OF WILLIS at the base of the brain. Vessel rupture results in SUBARACHNOID HEMORRHAGE or INTRACRANIAL HEMORRHAGES. Giant aneurysms (>2.5 cm in diameter) may compress adjacent structures, including the OCULOMOTOR NERVE. (From Adams et al., Principles of Neurology, 6th ed, p841)
Synonyms:exact_synonym: Anterior Cerebral Artery Aneurysm;   Anterior Communicating Artery Aneurysm;   Basilar Artery Aneurysm;   Basilar Artery Aneurysms;   Berry Aneurysm;   Berry Aneurysms;   Brain Aneurysm;   Brain Aneurysms;   Cerebral Aneurysm;   Cerebral Aneurysms;   Giant Intracranial Aneurysm;   Giant Intracranial Aneurysms;   Intracranial Aneurysms;   Intracranial Mycotic Aneurysm;   Intracranial Mycotic Aneurysms;   Middle Cerebral Artery Aneurysm;   Posterior Cerebral Artery Aneurysm;   Posterior Communicating Artery Aneurysm
 primary_id: MESH:D002532;   RDO:0001920
 xref: NCI:C34458
For additional species annotation, visit the Alliance of Genome Resources.


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intracranial aneurysm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end-product specific receptor ISO associated with Diabetes Mellitus, Experimental RGD PMID:23844137 RGD:8547935 NCBI chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479
JBrowse link
G Bcl2 BCL2 apoptosis regulator treatment ISO RGD PMID:25316629 RGD:11522723 NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO RGD PMID:14739420 RGD:1581199 NCBI chrNW_004955432:11,127,961...11,164,145
Ensembl chrNW_004955432:11,128,112...11,163,302
JBrowse link
G Col22a1 collagen type XXII alpha 1 chain susceptibility ISO DNA:SNPs:cds:multiple(human) RGD PMID:30541770 RGD:13831344 NCBI chrNW_004955461:12,596,449...12,870,853
Ensembl chrNW_004955461:12,597,488...12,848,410
JBrowse link
G Cst3 cystatin C ISO mRNA:decreased expression:brain, artery
protein:decreased expression:brain, artery
RGD PMID:18635848 RGD:2306495 NCBI chrNW_004955415:30,507,972...30,512,109 JBrowse link
G Ctsb cathepsin B ISO mRNA, protein:increased expression, increased activity:Circle of Willis (rat)
protein:increased expression:cerebral aneurysm (human)
RGD PMID:18635848 RGD:2306495 NCBI chrNW_004955403:53,086,236...53,100,217
Ensembl chrNW_004955403:53,085,574...53,093,809
JBrowse link
G Ctsk cathepsin K ISO mRNA:increased expression:brain, artery
protein:increased expression:brain, artery
RGD PMID:18635848 RGD:2306495 NCBI chrNW_004955588:149,036...158,093
Ensembl chrNW_004955588:148,748...158,093
JBrowse link
G Ctss cathepsin S ISO mRNA:increased expression:brain, artery
protein:increased expression:brain, artery
RGD PMID:18635848 RGD:2306495 NCBI chrNW_004955413:99,279...124,793
Ensembl chrNW_004955413:99,159...124,042
JBrowse link
G Eng endoglin ISO RGD PMID:10223461 RGD:1580964 NCBI chrNW_004955419:818,797...853,319
Ensembl chrNW_004955419:818,932...852,694
JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Brain Aneurysm ClinVar PMID:16835936 PMID:19006240 PMID:25525159 PMID:25741868 PMID:26038974 PMID:28492532 NCBI chrNW_004955415:1,307,553...1,535,435
Ensembl chrNW_004955415:1,309,077...1,537,052
JBrowse link
G Il6 interleukin 6 ISO RGD PMID:16648144 RGD:1580488 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Mmp12 matrix metallopeptidase 12 no_association ISO RGD PMID:11546917 RGD:1582365 NCBI chrNW_004955412:6,045,146...6,057,112
Ensembl chrNW_004955412:6,045,100...6,057,262
JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO RGD PMID:9724118 RGD:1582590 NCBI chrNW_004955409:37,438,924...37,448,704
Ensembl chrNW_004955409:37,440,541...37,448,437
JBrowse link
G Mmp2 matrix metallopeptidase 2 susceptibility ISO mRNA:increased expression:blood vessel RGD PMID:9724118 PMID:16961137 PMID:17569872 RGD:1582590 RGD:1582646 RGD:2290352 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
JBrowse link
G Mmp9 matrix metallopeptidase 9 susceptibility
treatment
ISO mRNA, protein:increased expression:artery
mRNA:increased expression:blood vessel
associated with Diabetes Mellitus, Experimental
RGD PMID:9310982 PMID:16961137 PMID:17122420 PMID:17569872 PMID:21937941 PMID:23844137 RGD:13204853 RGD:13204858 RGD:1582646 RGD:1642055 RGD:2290352 RGD:8547935 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19381132 NCBI chrNW_004955456:13,353,780...13,363,956
Ensembl chrNW_004955456:13,354,011...13,363,891
JBrowse link
G Nos1 nitric oxide synthase 1 ISO RGD PMID:21321533 RGD:5131897 NCBI chrNW_004955455:13,797,557...13,978,402
Ensembl chrNW_004955455:13,797,545...13,972,566
JBrowse link
G Nos3 nitric oxide synthase 3 ISO RGD PMID:21321533 RGD:5131897 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting susceptibility ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Brain aneurysm
RGD
ClinVar
PMID:12842373 PMID:25741868 RGD:1580867 NCBI chrNW_004955442:15,132,555...15,178,377
Ensembl chrNW_004955442:15,145,640...15,178,377
JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel susceptibility ISO DNA:mutations:multiple (human) RGD PMID:12842373 RGD:1580867 NCBI chrNW_004955474:1,831,221...1,868,170
Ensembl chrNW_004955474:1,833,701...1,868,817
JBrowse link
G Plau plasminogen activator, urokinase ISO RGD PMID:21786025 RGD:6483795 NCBI chrNW_004955437:17,995,726...18,000,542
Ensembl chrNW_004955437:17,994,537...18,000,209
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO RGD PMID:17569872 RGD:2290352 NCBI chrNW_004955516:507,113...511,360
Ensembl chrNW_004955516:505,789...512,118
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO mRNA:increased expression:blood vessel RGD PMID:17569872 RGD:2290352 NCBI chrNW_004955506:3,769,113...3,812,896
Ensembl chrNW_004955506:3,768,646...3,813,820
JBrowse link
G Tnf tumor necrosis factor treatment ISO RGD PMID:24628611 RGD:10450592 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
G Vcan versican ISO DNA:SNP: :rs173686 (human) RGD PMID:16917090 RGD:1598495 NCBI chrNW_004955418:26,967,595...27,078,430 JBrowse link
Intracranial Berry Aneurysm 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thsd1 thrombospondin type 1 domain containing 1 ISO OMIM NCBI chrNW_004955431:5,472,209...5,495,937
Ensembl chrNW_004955431:5,472,287...5,495,995
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11876
    disease of anatomical entity 11432
      cardiovascular system disease 3117
        vascular disease 2240
          Aneurysm 139
            intracranial aneurysm 26
              intracranial berry aneurysm + 1
Path 2
Term Annotations click to browse term
  disease 11876
    disease of anatomical entity 11432
      nervous system disease 9351
        central nervous system disease 7910
          brain disease 7304
            cerebrovascular disease 726
              intracranial arterial disease 230
                cerebral arterial disease 183
                  intracranial aneurysm 26
                    intracranial berry aneurysm + 1
paths to the root