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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:brain edema
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Accession:DOID:4724 term browser browse the term
Definition:Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see HYPOXIA, BRAIN). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of CSF flow (e.g., obstructive HYDROCEPHALUS). (From Childs Nerv Syst 1992 Sep; 8(6):301-6)
Synonyms:exact_synonym: Brain Swelling;   Brain Swellings;   Cerebral Edema;   Cerebral Edemas, Vasogenic;   Cytotoxic Brain Edema;   Cytotoxic Cerebral Edema;   Intracranial Edema;   Vasogenic Brain Edema;   Vasogenic Cerebral Edema;   intracranial swelling;   wet brain
 primary_id: MESH:D001929;   RDO:0001851
For additional species annotation, visit the Alliance of Genome Resources.


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brain edema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 treatment IMP associated with Cerebrovascular Accident
associated with Neoplasms, Experimental		 RGD PMID:16550187 PMID:23633925 RGD:1598635, RGD:12791991 NCBI chr 1:96,598,663...96,679,495
Ensembl chr 1:96,598,647...96,679,510 		JBrowse link
G Aqp1 aquaporin 1 IEP associated with Anoxia RGD PMID:21560328 RGD:5148033 NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690 		JBrowse link
G Aqp4 aquaporin 4 ISO
IEP		 associated with Embolism, Fat;protein:increased expression:brain
associated with Cerebral Hemorrhage
associated with Drug-Induced Liver Injury;protein:increased expression:cerebral cortex, astrocyte, plasma membrane
associated with Anoxia		 RGD PMID:21187412 PMID:20111877 PMID:20541575 PMID:20720509 PMID:21560328 More... RGD:5148010, RGD:5490129, RGD:5490126, RGD:5490122, RGD:5148033, RGD:5148020 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856 		JBrowse link
G Avpr1a arginine vasopressin receptor 1A IMP associated with Reperfusion Injury RGD PMID:16671476 RGD:2300375 NCBI chr 7:58,114,306...58,118,230
Ensembl chr 7:58,114,284...58,122,215 		JBrowse link
G C5 complement C5 IEP associated with Cerebral Hemorrhage RGD PMID:11136932 RGD:1600655 NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994 		JBrowse link
G Cp ceruloplasmin IDA RGD PMID:16671455 RGD:1599627 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075 		JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 IEP associated with Cerebral Hemorrhage;protein:increased expression:cerebral cortex RGD PMID:18830379 RGD:5135068 NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075 		JBrowse link
G Dmd dystrophin IDA associated with Status Epilepticus RGD PMID:22338606 RGD:6771363 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G F2 coagulation factor II IEP associated with Cerebral Hemorrhage RGD PMID:20541575 RGD:5490126 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G F2r coagulation factor II (thrombin) receptor IEP associated with Cerebral Hemorrhage RGD PMID:20541575 RGD:5490126 NCBI chr 2:26,869,343...26,885,856
Ensembl chr 2:26,868,404...26,885,870 		JBrowse link
G Gfap glial fibrillary acidic protein IEP associated with Embolism, Fat;protein:increased expression:brain RGD PMID:20111877 RGD:5490129 NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589 		JBrowse link
G Hmox1 heme oxygenase 1 IEP associated with Cerebral Hemorrhage;mRNA, protein:increased expression:brain RGD PMID:23438812 RGD:10766444 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP associated with Reperfusion Injury; protein:increased expression:brain (rat) RGD PMID:20570121 RGD:4145390 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Il18 interleukin 18 treatment IDA associated with Status Epilepticus RGD PMID:22338606 RGD:6771363 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP
ISO		 associated with Cerebral Hemorrhage
CTD Direct Evidence: therapeutic		 CTD
RGD		 PMID:15529013 PMID:20541575 RGD:5490126 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Myl9 myosin light chain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17419808 NCBI chr 3:145,281,943...145,288,333
Ensembl chr 3:145,281,937...145,288,333 		JBrowse link
G Mylk myosin light chain kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19943851 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19374494 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Ntn1 netrin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:29162556 NCBI chr10:52,899,933...53,098,591
Ensembl chr10:52,899,934...53,085,326 		JBrowse link
G Plat plasminogen activator, tissue type IEP
ISO		 associated with Burns;mRNA:increased expression:brain
CTD Direct Evidence: therapeutic		 CTD
RGD		 PMID:29651748 PMID:18718505 RGD:6483826 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G Plau plasminogen activator, urokinase IEP
ISO		 associated with Burns;mRNA:increased expression:brain
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:11677890 PMID:18718505 RGD:6483826 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
G S100b S100 calcium binding protein B IEP
ISO		 protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19027832 PMID:19147496 RGD:5508832 NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743 		JBrowse link
G Serpine2 serpin family E member 2 IEP associated with Cerebral Hemorrhage RGD PMID:18442833 RGD:2317927 NCBI chr 9:81,124,746...81,188,866
Ensembl chr 9:81,124,804...81,188,826 		JBrowse link
G Serpinf1 serpin family F member 1 treatment ISO human protein in a mouse model RGD PMID:17692294 RGD:8554891 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Tjp1 tight junction protein 1 ISO ClinVar Annotator: match by term: Cerebral edema ClinVar PMID:25741868 NCBI chr 1:118,849,838...119,094,492
Ensembl chr 1:118,849,838...119,094,432 		JBrowse link
G Tlr3 toll-like receptor 3 ISO ClinVar Annotator: match by term: Cerebral edema ClinVar PMID:25741868 NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21276434 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Vegfa vascular endothelial growth factor A IDA
IEP		 associated with Anoxia RGD PMID:15879344 PMID:21560328 RGD:1580557, RGD:5148033 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naxe NAD(P)HX epimerase ISO ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy ClinVar PMID:25741868 PMID:27290639 PMID:27616477 PMID:28492532 PMID:33798445 NCBI chr 2:173,518,966...173,521,048
Ensembl chr 2:173,518,971...173,521,040 		JBrowse link
Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naxe NAD(P)HX epimerase ISO ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 OMIM
ClinVar		 PMID:25741868 PMID:27290639 PMID:27616477 PMID:28492532 PMID:33798445 NCBI chr 2:173,518,966...173,521,048
Ensembl chr 2:173,518,971...173,521,040 		JBrowse link
Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naxd NAD(P)HX dehydratase ISO ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30576410 PMID:32462209 NCBI chr16:77,986,148...78,004,200
Ensembl chr16:77,987,726...78,004,192 		JBrowse link
PEHO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc88a coiled coil domain containing 88A ISO ClinVar Annotator: match by term: PEHO syndrome | ClinVar Annotator: match by term: Peho-like syndrome ClinVar PMID:25741868 PMID:26917597 PMID:28492532 NCBI chr14:103,104,091...103,256,112
Ensembl chr14:103,103,513...103,252,368 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:decreased expression:cerebrospinal fluid: RGD PMID:11701291 RGD:8548849 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: PEHO syndrome ClinVar PMID:21376300 PMID:25253658 PMID:25265257 PMID:25741868 PMID:26125038 More... NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480 		JBrowse link
G Znhit3 zinc finger, HIT-type containing 3 ISO ClinVar Annotator: match by term: PEHO syndrome OMIM
ClinVar		 PMID:25741868 PMID:28335020 PMID:31048081 NCBI chr10:69,775,885...69,790,471
Ensembl chr10:69,748,789...69,790,475 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Pathological Conditions, Signs and Symptoms 11168
      Signs and Symptoms 7215
        Edema 126
          brain edema 34
            Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy + 2
            PEHO syndrome 4
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        central nervous system disease 11254
          brain disease 10539
            brain edema 34
              Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy + 2
              PEHO syndrome 4
paths to the root