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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:Cerebral Hemorrhage
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Accession:DOID:9002676 term browser browse the term
Definition:Bleeding into one or both CEREBRAL HEMISPHERES including the BASAL GANGLIA and the CEREBRAL CORTEX. It is often associated with HYPERTENSION and CRANIOCEREBRAL TRAUMA.
Synonyms:exact_synonym: Cerebral Brain Hemorrhage;   Cerebral Brain Hemorrhages;   Cerebral Hemorrhages;   Cerebral Parenchymal Hemorrhage;   Cerebral Parenchymal Hemorrhages;   Cerebrum Hemorrhage;   Cerebrum Hemorrhages;   ICH;   Intracerebral Hemorrhage;   Intracerebral Hemorrhages;   STROKE, HEMORRHAGIC, SUSCEPTIBILITY TO
 related_synonym: Hemorrhage, intracerebral, susceptibility to
 primary_id: MESH:D002543;   RDO:0003867
 alt_id: OMIM:614519
 xref: NCI:C50485
For additional species annotation, visit the Alliance of Genome Resources.


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Cerebral Hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Stroke, hemorrhagic, susceptibility to
CTD
OMIM
ClinVar
PMID:1313972 PMID:1319114 PMID:1328889 PMID:1386652 PMID:1976655 PMID:2847529 PMID:2849100 PMID:7593601 PMID:7729604 PMID:7854377 PMID:7909524 PMID:8131299 PMID:8131300 PMID:8136829 PMID:8170965 PMID:8208911 PMID:8298638 PMID:8314010 PMID:8541160 PMID:8644984 PMID:8675669 PMID:9120002 PMID:9236417 PMID:9259580 PMID:9699903 PMID:9737775 PMID:9916793 PMID:10099885 PMID:10636736 PMID:10643899 PMID:10841123 PMID:11687636 PMID:11956052 PMID:12220450 PMID:12666117 PMID:14657821 PMID:14872014 PMID:15110771 PMID:15277638 PMID:15381116 PMID:15531537 PMID:15534175 PMID:15635071 PMID:19221299 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Anxa1 annexin A1 IEP mRNA:increased expression:brain RGD PMID:16034371 RGD:2306905 NCBI chr 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
JBrowse link
G Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 IEP RGD PMID:15344903 RGD:2315676 NCBI chr15:27,849,943...27,852,083
Ensembl chr15:27,849,979...27,852,082
JBrowse link
G Apoe apolipoprotein E ISO DNA:missense mutations, haplotype:cds:p.C112R (rs7412) (human) RGD PMID:19251191 RGD:6904207 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Aqp4 aquaporin 4 IEP RGD PMID:25545558 RGD:11541062 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12721362 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12721362 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bcl2l1 Bcl2-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12721362 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO RGD PMID:20818776 RGD:4891129 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Becn1 beclin 1 IEP protein:increased expression:basal ganglion RGD PMID:23884876 RGD:11561935 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
JBrowse link
G Bnip3l BCL2 interacting protein 3 like IEP RGD PMID:23771482 RGD:7483577 NCBI chr15:43,643,897...43,667,123
Ensembl chr15:43,643,897...43,667,029
JBrowse link
G C3 complement C3 IEP RGD PMID:17114852 RGD:5129540 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Casp12 caspase 12 treatment IEP RGD PMID:28544790 RGD:13782167 NCBI chr 8:2,658,892...2,686,160
Ensembl chr 8:2,659,865...2,686,160
JBrowse link
G Casp3 caspase 3 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD PMID:17971790, PMID:28096675 RGD:13782306 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Casp8 caspase 8 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD PMID:17971790, PMID:28096675 RGD:13782306 NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
JBrowse link
G Casp9 caspase 9 treatment IEP RGD PMID:28096675 RGD:13782306 NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
JBrowse link
G Cd14 CD14 molecule IEP mRNA:increased expression:lung, intestine: RGD PMID:19534684 RGD:7185660 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:19064796 RGD:6893504 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cfh complement factor H severity ISO RGD PMID:21871809 RGD:5684553 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
JBrowse link
G Cntf ciliary neurotrophic factor ISO CTD Direct Evidence: therapeutic CTD PMID:11701153 NCBI chr 1:229,599,009...229,601,032
Ensembl chr 1:229,599,009...229,601,032
JBrowse link
G Col4a1 collagen type IV alpha 1 chain susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemorrhage, intracerebral, susceptibility to
CTD
ClinVar
OMIM
PMID:16598045 PMID:22522439 PMID:26467025 PMID:28492532, PMID:16598045 RGD:1581204 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
JBrowse link
G Col4a2 collagen type IV alpha 2 chain susceptibility ISO ClinVar Annotator: match by term: Hemorrhage, intracerebral, susceptibility to
ClinVar Annotator: match by term: STROKE, HEMORRHAGIC, SUSCEPTIBILITY TO
CTD Direct Evidence: marker/mechanism
DNA:SNPs::
ClinVar
CTD
OMIM
PMID:22209247 PMID:22914737 PMID:24390199 PMID:24646874 PMID:25653287 PMID:25741868 PMID:28492532, PMID:28954878 RGD:13450933 NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO RGD PMID:19169816 RGD:11039433 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 treatment IMP RGD PMID:24955809 RGD:11352686 NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878
JBrowse link
G Dag1 dystroglycan 1 IEP RGD PMID:25545558 RGD:11541062 NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
JBrowse link
G Dcx doublecortin IEP protein:increased expression:dentate gyrus RGD PMID:24144742 RGD:12904766 NCBI chr  X:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299
JBrowse link
G F13a1 coagulation factor XIII A1 chain ISO RGD PMID:9550516 RGD:1581027 NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
JBrowse link
G F2 coagulation factor II severity ISO protein:increased expression:plasma RGD PMID:21244583 RGD:5147770 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F7 coagulation factor VII treatment ISO human protein in a rat model
CTD Direct Evidence: therapeutic
CTD PMID:16671457 PMID:21127298, PMID:16671457 RGD:11049545 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 IEP
ISO
mRNA:increased expression:brain:
CTD Direct Evidence: marker/mechanism
CTD PMID:17888890, PMID:17888890 RGD:10402152 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12401953 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hmox2 heme oxygenase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:16459095 NCBI chr10:10,990,034...11,035,493
Ensembl chr10:10,990,034...11,035,484
JBrowse link
G Hp haptoglobin treatment ISO RGD PMID:20016097, PMID:20016097 RGD:11041810, RGD:11041810 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment IEP
ISO
mRNA:increased expression:striatum (rat)
human gene in a rat model
RGD PMID:22707991, PMID:14753487 RGD:6997504, RGD:8551833 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Itga2b integrin subunit alpha 2b ISO CTD Direct Evidence: marker/mechanism CTD PMID:9445356 NCBI chr10:90,397,960...90,416,550
Ensembl chr10:90,398,132...90,415,070
JBrowse link
G Itgav integrin subunit alpha V ISO CTD Direct Evidence: marker/mechanism CTD PMID:9445356, PMID:16102435 RGD:1582447 NCBI chr 3:71,113,269...71,205,958
Ensembl chr 3:71,114,100...71,202,411
JBrowse link
G Itgb2 integrin subunit beta 2 ISO RGD PMID:18615643 RGD:6482197 NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
JBrowse link
G Itgb3 integrin subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9445356 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
G Kdr kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17888890 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G LOC299277 similar to serine (or cysteine) peptidase inhibitor, clade A, member 3B ISO RGD PMID:12126519 RGD:1580109 NCBI chr 6:127,871,895...127,888,287
Ensembl chr 6:127,872,666...127,886,540
JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha IEP RGD PMID:23884876 RGD:11561935 NCBI chr 3:150,801,289...150,802,935
Ensembl chr 3:150,801,289...150,802,935
JBrowse link
G Mir152 microRNA 152 treatment IDA RGD PMID:31982825 RGD:21066340 NCBI chr10:84,719,319...84,719,403
Ensembl chr10:84,719,319...84,719,403
JBrowse link
G Mmp12 matrix metallopeptidase 12 IDA
ISO
RGD PMID:12783419, PMID:15654856 RGD:1582362, RGD:1582358 NCBI chr 8:5,594,717...5,616,494
Ensembl chr 8:5,606,592...5,616,493
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10698078 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17971790 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:14630814 PMID:15488484 PMID:15529013 PMID:16190367 PMID:19095969, PMID:17021183 RGD:1582637 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mt1 metallothionein 1 IEP mRNA:increased expression:cerebral cortex, striatum (rat) RGD PMID:16034371 RGD:2306905 NCBI chr19:11,301,991...11,303,007
Ensembl chr17:78,793,336...78,793,724
JBrowse link
G Mt2A metallothionein 2A IEP mRNA:increased expression:cerebral cortex, striatum (rat) RGD PMID:16034371 RGD:2306905 NCBI chr19:11,307,966...11,308,740
Ensembl chr19:11,307,967...11,308,740
JBrowse link
G Mtor mechanistic target of rapamycin kinase treatment IMP RGD PMID:24602288 RGD:10041041 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 IDA protein:increased activity:striatum RGD PMID:17250675 RGD:2302394 NCBI chr 2:240,773,520...240,890,053
Ensembl chr 2:240,773,456...240,866,689
JBrowse link
G Nfkb2 nuclear factor kappa B subunit 2 IDA protein:increased activity:striatum RGD PMID:17250675 RGD:2302394 NCBI chr 1:266,050,634...266,059,277
Ensembl chr 1:266,053,002...266,059,256
JBrowse link
G Nfkbia NFKB inhibitor alpha IDA protein:increased phosphorylation:brain RGD PMID:20150961 RGD:10413872 NCBI chr 6:76,267,227...76,270,457
Ensembl chr 6:76,267,228...76,270,457
JBrowse link
G Nppb natriuretic peptide B ISO CTD Direct Evidence: therapeutic CTD PMID:19803787 NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
JBrowse link
G Npy neuropeptide Y IEP protein:increased expression:plasma (rat) RGD PMID:15068713 RGD:1580182 NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 treatment IEP RGD PMID:29050310 RGD:13442476 NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
JBrowse link
G Plat plasminogen activator, tissue type treatment
severity
IDA
ISO
human protein in a rat model
CTD Direct Evidence: marker/mechanism
associated with Brain Injuries
CTD PMID:1430592 PMID:1579960 PMID:1899364 PMID:7477192 PMID:7723950 PMID:8969996 PMID:9836764 PMID:10501537 PMID:11113218 PMID:11940547 PMID:14630814 PMID:16126134 PMID:16190367 PMID:16908730 PMID:17690543 PMID:18346647 PMID:18369171 PMID:18753474 PMID:19095969 PMID:20212195 PMID:21088392 PMID:22436003 PMID:23876515 PMID:29651748, PMID:12220690, PMID:25673638 RGD:11537477, RGD:11541064 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:1265806 PMID:8025938 PMID:9731615 PMID:15181847 PMID:17702958 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6254450 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Psen1 presenilin 1 ISO RGD PMID:16079160 RGD:1580694 NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IEP
ISO
protein:increased expression:neuron, astrocyte, blood vessel RGD PMID:21385433, PMID:21385433 RGD:5508223, RGD:5508223 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit IDA protein:increased activity:striatum RGD PMID:17250675 RGD:2302394 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G Relb RELB proto-oncogene, NF-kB subunit IDA mRNA, protein:increased expression, increased activity:striatum RGD PMID:17250675 RGD:2302394 NCBI chr 1:80,517,081...80,545,019
Ensembl chr 1:80,517,411...80,544,825
JBrowse link
G S100b S100 calcium binding protein B disease_progression ISO CTD Direct Evidence: marker/mechanism CTD PMID:19027832, PMID:19505208 RGD:5508801 NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
JBrowse link
G Serpinc1 serpin family C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6636041 NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
JBrowse link
G Slc24a1 solute carrier family 24 member 1 IEP mRNA, protein:decreased expression:cerebrum RGD PMID:23564126 RGD:9685494 NCBI chr 8:70,409,683...70,438,352
Ensembl chr 8:70,408,528...70,436,028
JBrowse link
G Slc8b1 solute carrier family 8 member B1 IEP RGD PMID:23564126 RGD:9685494 NCBI chr12:41,566,980...41,590,294
Ensembl chr12:41,566,981...41,590,244
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:20440599 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
JBrowse link
G Sqstm1 sequestosome 1 IEP protein:decreased expression:basal ganglion RGD PMID:23884876 RGD:11561935 NCBI chr10:35,704,728...35,716,316
Ensembl chr10:35,704,730...35,716,294
JBrowse link
G Thbs1 thrombospondin 1 IEP RGD PMID:20136391 RGD:2317938 NCBI chr 3:109,862,120...109,873,466
Ensembl chr 3:109,862,117...109,873,466
JBrowse link
G Thbs2 thrombospondin 2 IEP RGD PMID:20136391 RGD:2317938 NCBI chr 1:56,653,929...56,683,571
Ensembl chr 1:56,653,938...56,683,731
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17888890 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
APP-related cerebral amyloid angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral amyloid angiopathy, APP-related
ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT
CTD
ClinVar
OMIM
PMID:1303239 PMID:1679289 PMID:2111584 PMID:9754958 PMID:9848098 PMID:10821838 PMID:11311152 PMID:11409420 PMID:11441013 PMID:11528419 PMID:12654973 PMID:15502844 PMID:16178030 PMID:18413473 PMID:19225789 PMID:20228223 PMID:20697050 PMID:24878480 PMID:25741868 PMID:26104569 PMID:26402770 PMID:27000221 PMID:27858710 PMID:28350801 PMID:28492532 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
GRADE 1 PRETERM INTRAVENTRICULAR HEMORRHAGE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sema6b semaphorin 6B ISO ClinVar Annotator: match by term: Grade I preterm intraventricular hemorrhage ClinVar PMID:31474318 NCBI chr 9:10,934,273...10,951,252
Ensembl chr 9:10,941,613...10,951,252
JBrowse link
Intraventricular Hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bace1 beta-secretase 1 IEP protein:increased expression:hippocampus RGD PMID:30028260 RGD:13782136 NCBI chr 8:50,140,092...50,162,388
Ensembl chr 8:50,139,997...50,162,361
JBrowse link
G Il6 interleukin 6 ISO associated with Premature Birth;protein:increased expression:serum: RGD PMID:22906886 RGD:12792208 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Pathological Conditions, Signs and Symptoms 8761
      Pathologic Processes 6176
        Hemorrhage 256
          Intracranial Hemorrhages 131
            Cerebral Hemorrhage 75
              APP-related cerebral amyloid angiopathy 1
              Basal Ganglia Hemorrhage + 0
              Cerebral Hemorrhage, Traumatic 0
              Intraventricular Hemorrhage + 3
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            cerebrovascular disease 815
              Intracranial Hemorrhages 131
                Cerebral Hemorrhage 75
                  APP-related cerebral amyloid angiopathy 1
                  Basal Ganglia Hemorrhage + 0
                  Cerebral Hemorrhage, Traumatic 0
                  Intraventricular Hemorrhage + 3
paths to the root