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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Cerebral edema
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Accession:HP:0002181 term browser browse the term
Definition:Abnormal accumulation of fluid in the brain.
Comment:Cerebral edema refers to swelling within brain tissue due to the accumulation of fluid, and can occur as in response to almost any insulting agent. Edema canbe observed in and around regions of dead or dying brain, around metastases and abscesses, after traumatic injury, following hypoxic ischemic injury, and around primary brain tumors. There are at least five different types of edema: vasogenic, cytotoxic, hydrostatic, interstitial, and hypoosmotic. Three effects of edema are visible on imaging: (i) loss of gray-white matter differentiation; (ii) swelling of sulci (shrinking of gyri); and (iii) mass effects. On CT scanning, extensive low density may represent vasogenic edema. As the brain swells, not only do the sulci decrease, but all of the CSF spaces of the hemispheres (including the ventricles) decrease as well. Magnetic resonance tomography may show abnormalities of diffusion-weighted imaging (DWI), and Fluid attenuation inversion recovery (FLAIR) sequences. Phenotype terms involving cerebral edema thus reflect inference about the underlying processes responsible for these abnormalities on brain imaging.
Synonyms:exact_synonym: Brain edema;   Brain oedema;   Cerebral oedema;   Swelling of brain
 broad_synonym: Brain swelling
 xref: SNOMEDCT_US:2032001;   UMLS:C0006114;   UMLS:C1527311


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Cerebral edema term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC8 ATP binding cassette subfamily C member 8 IAGP ClinVar Annotator: match by term: Brain edema ClinVar PMID:25741868 PMID:26467025 PMID:27677908 PMID:28492532 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G ACAD9 acyl-CoA dehydrogenase family member 9 IAGP HPO MIM:611126 ORPHA:99901 NCBI chr 3:128,879,620...128,913,114
Ensembl chr 3:128,879,596...128,924,003 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain IAGP HPO MIM:201450 NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,431...75,787,575 		JBrowse link
G ASL argininosuccinate lyase IAGP HPO MIM:207900 NCBI chr 7:66,075,819...66,093,576
Ensembl chr 7:66,075,800...66,094,697 		JBrowse link
G ASS1 argininosuccinate synthase 1 IAGP HPO MIM:215700 NCBI chr 9:130,444,707...130,501,274
Ensembl chr 9:130,444,961...130,501,274 		JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP HPO MIM:602481 ORPHA:569 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591 		JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha IAGP HPO MIM:248600 NCBI chr19:41,397,818...41,425,002
Ensembl chr19:41,397,808...41,425,002 		JBrowse link
G C1QBP complement C1q binding protein IAGP HPO MIM:617713 NCBI chr17:5,432,777...5,439,155
Ensembl chr17:5,432,777...5,448,830 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP HPO ORPHA:569 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489 		JBrowse link
G COX16 cytochrome c oxidase assembly factor COX16 IAGP HPO MIM:619355 NCBI chr14:70,325,081...70,359,683
Ensembl chr14:70,325,081...70,416,984 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 IAGP HPO MIM:237300 NCBI chr 2:210,477,685...210,679,107
Ensembl chr 2:210,477,682...210,679,107 		JBrowse link
G CPSF3 cleavage and polyadenylation specific factor 3 IAGP HPO MIM:619876 NCBI chr 2:9,423,654...9,473,101
Ensembl chr 2:9,423,651...9,473,101 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP HPO MIM:614212 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		JBrowse link
G DBR1 debranching RNA lariats 1 IAGP HPO MIM:620510 NCBI chr 3:138,160,988...138,174,921
Ensembl chr 3:138,160,988...138,174,949 		JBrowse link
G ESAM endothelial cell adhesion molecule IAGP HPO MIM:620371 NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290 		JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP HPO ORPHA:439218 NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677 		JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP HPO ORPHA:258 NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566 		JBrowse link
G LIAS lipoic acid synthetase IAGP HPO MIM:614462 NCBI chr 4:39,459,056...39,479,506
Ensembl chr 4:39,459,004...39,485,109 		JBrowse link
G MRPL39 mitochondrial ribosomal protein L39 IAGP HPO MIM:620646 NCBI chr21:25,585,656...25,607,859
Ensembl chr21:25,585,656...25,607,517 		JBrowse link
G NAXD NAD(P)HX dehydratase IAGP HPO MIM:618321 NCBI chr13:110,615,460...110,639,996
Ensembl chr13:110,615,545...110,639,996 		JBrowse link
G NAXE NAD(P)HX epimerase IAGP HPO MIM:617186 NCBI chr 1:156,591,776...156,594,299
Ensembl chr 1:156,591,756...156,609,507 		JBrowse link
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 IAGP HPO MIM:252010 NCBI chr 5:53,560,639...53,683,338
Ensembl chr 5:53,560,633...53,683,338 		JBrowse link
G OTC ornithine transcarbamylase IAGP HPO MIM:311250 NCBI chr  X:38,327,684...38,422,928
Ensembl chr  X:38,327,598...38,422,908 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 IAGP HPO ORPHA:569 NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892 		JBrowse link
G RANBP2 RAN binding protein 2 IAGP HPO MIM:608033 ORPHA:88619 NCBI chr 2:108,719,482...109,842,301
Ensembl chr 2:108,719,482...108,785,810 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP HPO ORPHA:569 NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,182,806 		JBrowse link
G SLC25A13 solute carrier family 25 member 13 IAGP HPO MIM:603471 ORPHA:247585 NCBI chr 7:96,120,220...96,322,098
Ensembl chr 7:96,120,220...96,322,147 		JBrowse link
G SMS spermine synthase IAGP HPO ORPHA:3063 NCBI chr  X:21,940,709...21,994,837
Ensembl chr  X:21,940,709...21,994,837 		JBrowse link
G TBK1 TANK binding kinase 1 IAGP HPO ORPHA:1930 NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114 		JBrowse link
G TICAM1 TIR domain containing adaptor molecule 1 IAGP HPO ORPHA:1930 NCBI chr19:4,815,932...4,831,712
Ensembl chr19:4,815,932...4,831,712 		JBrowse link
G TLR3 toll like receptor 3 IAGP HPO ORPHA:1930 NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073 		JBrowse link
G TRAF3 TNF receptor associated factor 3 IAGP HPO ORPHA:1930 NCBI chr14:102,777,449...102,911,500
Ensembl chr14:102,777,449...102,911,500 		JBrowse link
G UNC93B1 unc-93 homolog B1, TLR signaling regulator IAGP HPO ORPHA:1930 NCBI chr11:67,991,100...68,004,097
Ensembl chr11:67,991,100...68,004,982 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73834
    Phenotypic abnormality 73529
      Abnormality of metabolism/homeostasis 4752
        Abnormal homeostasis 2538
          Abnormality of fluid regulation 954
            Edema 860
              Cerebral edema 33
Path 2
Term Annotations click to browse term
  Human phenotype 73834
    Phenotypic abnormality 73529
      Abnormality of the nervous system 28559
        Abnormal nervous system morphology 5275
          Morphological central nervous system abnormality 5160
            Abnormal brain morphology 3691
              Abnormal forebrain morphology 2565
                Abnormal cerebral morphology 2454
                  Cerebral edema 33
paths to the root