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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 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287 		JBrowse link
G Aqp1 aquaporin 1 IEP associated with Anoxia RGD PMID:21560328 RGD:5148033 NCBI chr 4:85,551,503...85,563,683
Ensembl chr 4:85,551,502...85,569,360 		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, PMID:20938728 RGD:5148010, RGD:5490129, RGD:5490126, RGD:5490122, RGD:5148033, RGD:5148020 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996 		JBrowse link
G Avpr1a arginine vasopressin receptor 1A IMP associated with Reperfusion Injury RGD PMID:16671476 RGD:2300375 NCBI chr 7:67,341,366...67,345,290
Ensembl chr 7:67,341,080...67,345,308 		JBrowse link
G C5 complement C5 IEP associated with Cerebral Hemorrhage RGD PMID:11136932 RGD:1600655 NCBI chr 3:14,049,993...14,113,931
NCBI chr 3:14,206,466...14,229,141
Ensembl chr 3:14,049,995...14,229,080 		JBrowse link
G Cp ceruloplasmin IDA RGD PMID:16671455 RGD:1599627 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853 		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 chr14:18,731,346...18,733,391
Ensembl chr14:18,731,378...18,733,391 		JBrowse link
G Dmd dystrophin IDA associated with Status Epilepticus RGD PMID:22338606 RGD:6771363 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259 		JBrowse link
G F2 coagulation factor II IEP associated with Cerebral Hemorrhage RGD PMID:20541575 RGD:5490126 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031 		JBrowse link
G F2r coagulation factor II (thrombin) receptor IEP associated with Cerebral Hemorrhage RGD PMID:20541575 RGD:5490126 NCBI chr 2:26,118,760...26,135,340
Ensembl chr 2:26,118,760...26,135,340 		JBrowse link
G Gfap glial fibrillary acidic protein IEP associated with Embolism, Fat;protein:increased expression:brain RGD PMID:20111877 RGD:5490129 NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506 		JBrowse link
G Hmox1 heme oxygenase 1 IEP associated with Cerebral Hemorrhage;mRNA, protein:increased expression:brain RGD PMID:23438812 RGD:10766444 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456 		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 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059 		JBrowse link
G Il18 interleukin 18 treatment IDA associated with Status Epilepticus RGD PMID:22338606 RGD:6771363 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299 		JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP
ISO		 associated with Cerebral Hemorrhage
CTD Direct Evidence: therapeutic		 CTD PMID:15529013, PMID:20541575 RGD:5490126 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520 		JBrowse link
G Myl9 myosin light chain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17419808 NCBI chr 3:152,857,573...152,863,961
Ensembl chr 3:152,857,592...152,863,960 		JBrowse link
G Mylk myosin light chain kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19943851 NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19374494 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190 		JBrowse link
G Ntn1 netrin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:29162556 NCBI chr10:54,761,925...54,982,072
Ensembl chr10:54,761,871...54,967,585 		JBrowse link
G Plat plasminogen activator, tissue type IEP
ISO		 associated with Burns;mRNA:increased expression:brain
CTD Direct Evidence: therapeutic		 CTD PMID:29651748, PMID:18718505 RGD:6483826 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889 		JBrowse link
G Plau plasminogen activator, urokinase IEP
ISO		 associated with Burns;mRNA:increased expression:brain
CTD Direct Evidence: marker/mechanism		 CTD PMID:11677890, PMID:18718505 RGD:6483826 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819 		JBrowse link
G S100b S100 calcium binding protein B IEP
ISO		 protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD PMID:19027832, PMID:19147496 RGD:5508832 NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856 		JBrowse link
G Serpine2 serpin family E member 2 IEP associated with Cerebral Hemorrhage RGD PMID:18442833 RGD:2317927 NCBI chr 9:85,560,852...85,629,410
Ensembl chr 9:85,560,863...85,626,094 		JBrowse link
G Serpinf1 serpin family F member 1 treatment ISO human protein in a mouse model RGD PMID:17692294 RGD:8554891 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21276434 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000 		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 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681 		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 NCBI chr 2:187,424,319...187,426,410
Ensembl chr 2:187,424,327...187,426,375 		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 NCBI chr 2:187,424,319...187,426,410
Ensembl chr 2:187,424,327...187,426,375 		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
ClinVar Annotator: match by term: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2		 OMIM
ClinVar		 PMID:25741868 PMID:30576410 PMID:32462209 NCBI chr16:83,326,228...83,342,711
Ensembl chr16:83,326,301...83,342,667 		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-like syndrome
ClinVar Annotator: match by term: PEHO-like syndrome		 ClinVar PMID:25741868 PMID:26917597 NCBI chr14:113,771,093...113,936,376
Ensembl chr14:113,867,209...113,932,263 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:decreased expression:cerebrospinal fluid: RGD PMID:11701291 RGD:8548849 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609 		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 PMID:26486474 PMID:28492532 PMID:31805580 NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609 		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 chr10:72,227,710...72,235,932
Ensembl chr10:72,228,222...72,235,888 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    Pathological Conditions, Signs and Symptoms 10222
      Signs and Symptoms 6479
        Edema 108
          brain edema 32
            Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy + 2
            PEHO syndrome 4
Path 2
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      nervous system disease 12094
        central nervous system disease 10374
          brain disease 9730
            brain edema 32
              Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy + 2
              PEHO syndrome 4
paths to the root