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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:Edema
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Accession:DOID:9000197 term browser browse the term
Definition:Abnormal fluid accumulation in TISSUES or body cavities. Most cases of edema are present under the SKIN in SUBCUTANEOUS TISSUE.
Synonyms:exact_synonym: Anasarca;   Dropsy;   Hydrops
 primary_id: MESH:D004487
 xref: EFO:0009373



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Edema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: therapeutic CTD PMID:36093370 NCBI chr 6:57,961,423...57,998,901 JBrowse link
G Amn amnion associated transmembrane protein ISO CTD Direct Evidence: therapeutic CTD PMID:17698245 NCBI chr 6:136,132,567...136,140,008 JBrowse link
G Apoa1 apolipoprotein A1 ISO CTD Direct Evidence: therapeutic CTD PMID:20972769 NCBI chr 8:55,423,945...55,425,729 JBrowse link
G Asip agouti signaling protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:32937126 NCBI chr 3:163,933,768...164,021,377 JBrowse link
G Bdkrb1 bradykinin receptor B1 severity IMP RGD PMID:12411434 RGD:628496 NCBI chr 6:130,275,631...130,284,968 JBrowse link
G Calca calcitonin-related polypeptide alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7508328 NCBI chr 1:178,312,636...178,317,588 JBrowse link
G Casp3 caspase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19874808 NCBI chr16:52,395,539...52,413,794 JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19874808 NCBI chr 9:67,747,109...67,806,699 JBrowse link
G Casp9 caspase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19874808
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19874808 NCBI chr 3:110,297,340...110,329,526 JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:25194622 PMID:27028940 PMID:29908986 PMID:29935983 NCBI chr 7:130,977,561...131,006,627 JBrowse link
G Elane elastase, neutrophil expressed treatment IMP RGD PMID:20860667 RGD:10450565 NCBI chr 7:9,817,251...9,819,174 JBrowse link
G Gdf3 growth differentiation factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22613031 NCBI chr 4:155,831,572...155,835,953 JBrowse link
G Gsr glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19874808 NCBI chr16:65,185,574...65,228,742 JBrowse link
G Il11 interleukin 11 ISO CTD Direct Evidence: therapeutic CTD PMID:17980069 NCBI chr 1:69,069,829...69,076,129 JBrowse link
G Il18 interleukin 18 IMP RGD PMID:19497959 RGD:4889403 NCBI chr 8:59,802,072...59,829,275 JBrowse link
G Il1b interleukin 1 beta treatment ISO associated with Inflammation RGD PMID:2611121 RGD:7401193 NCBI chr 3:137,030,200...137,036,581 JBrowse link
G Il4 interleukin 4 treatment ISO associated with Inflammation RGD PMID:23972727 RGD:10402790 NCBI chr10:38,272,003...38,277,549 JBrowse link
G Il6 interleukin 6 ISO diabetic macular edema associated with Diabetes Mellitus; protein:increased expression:extracellular space (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19874808 PMID:19118698 RGD:2306981 NCBI chr 4:5,889,999...5,894,575 JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15628829 NCBI chr 1:207,272,738...207,421,998 JBrowse link
G Jak3 Janus kinase 3 treatment ISO associated with Hypersensitivity, Delayed RGD PMID:25762693 RGD:11533938 NCBI chr16:18,418,807...18,432,515 JBrowse link
G Kng1 kininogen 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9719496 NCBI chr11:77,812,757...77,835,555 JBrowse link
G Kng2 kininogen 2 treatment IEP RGD PMID:20860667 RGD:10450565 NCBI chr11:77,913,876...77,936,247 JBrowse link
G Map2k6 mitogen-activated protein kinase kinase 6 ISO CTD Direct Evidence: therapeutic CTD PMID:21544193 NCBI chr10:95,872,747...95,987,747 JBrowse link
G Mettl14 methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:34648132 NCBI chr 2:211,530,598...211,546,845 JBrowse link
G Nos2 nitric oxide synthase 2 IEP protein:increased activity:serum (rat) RGD PMID:22019508 RGD:5509038 NCBI chr10:64,313,335...64,349,221 JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 IDA RGD PMID:19396522 RGD:4892316 NCBI chr18:31,522,783...31,644,508 JBrowse link
G Oxt oxytocin/neurophysin I prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:5067144 PMID:5538905 NCBI chr 3:117,782,650...117,783,490 JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1459535 PMID:4327920 PMID:8562174 NCBI chr 6:32,659,137...32,665,175 JBrowse link
G Ptger3 prostaglandin E receptor 3 treatment IMP RGD PMID:8138964 RGD:10043358 NCBI chr 2:246,606,131...246,750,970 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11820457 NCBI chr13:64,714,063...64,722,320 JBrowse link
G Pthlh parathyroid hormone-like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:25035110 NCBI chr 4:180,188,792...180,199,847 JBrowse link
G Slc9a1 solute carrier family 9 member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20553904 NCBI chr 5:145,576,341...145,629,630 JBrowse link
G Slc9a2 solute carrier family 9 member A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20553904 NCBI chr 9:42,932,001...43,014,447 JBrowse link
G Slc9a3 solute carrier family 9 member A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20553904 NCBI chr 1:29,124,633...29,167,912 JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO CTD Direct Evidence: therapeutic CTD PMID:15306842 NCBI chr 7:65,365,505...65,382,825 JBrowse link
G Tac1 tachykinin, precursor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7508328 NCBI chr 4:36,645,344...36,653,548 JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19874808 NCBI chr20:3,626,685...3,629,303 JBrowse link
G Vip vasoactive intestinal peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:7508328 NCBI chr 1:44,470,232...44,478,561 JBrowse link
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
ISO
associated with Cerebrovascular Accident
ClinVar Annotator: match by term: Cerebral edema
associated with Neoplasms, Experimental
ClinVar
RGD
PMID:25741868 PMID:26467025 PMID:27677908 PMID:28492532 PMID:16550187 More... RGD:1598635, RGD:12791991 NCBI chr 1:105,734,992...105,816,272 JBrowse link
G Aqp1 aquaporin 1 IEP
ISO
associated with Anoxia
mRNA:increased expression:neocortex, Pyramidal cells (human)
RGD PMID:21560328 PMID:27487831 RGD:5148033, RGD:329969876 NCBI chr 4:85,812,784...85,824,964 JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO mRNA:increased expression:neocortex,Pyramidal cells (human) RGD PMID:27487831 RGD:329969876 NCBI chr 5:61,035,165...61,040,683 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 chr18:6,782,389...6,799,034 JBrowse link
G Avpr1a arginine vasopressin receptor 1A IMP associated with Reperfusion Injury RGD PMID:16671476 RGD:2300375 NCBI chr 7:59,999,743...60,003,667 JBrowse link
G C5 complement C5 IEP associated with Cerebral Hemorrhage RGD PMID:11136932 RGD:1600655 NCBI chr 3:38,668,174...38,759,468 JBrowse link
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO mRNA:decreased expression:neocortex,Pyramidal cells (human) RGD PMID:27487831 RGD:329969876 NCBI chr 3:27,779,133...27,944,292 JBrowse link
G Cp ceruloplasmin IDA RGD PMID:16671455 RGD:1599627 NCBI chr 2:104,368,336...104,427,119 JBrowse link
G Crh corticotropin releasing hormone ISO mRNA:decreased expression:neocortex,Pyramidal cells (human) RGD PMID:27487831 RGD:329969876 NCBI chr 2:104,059,184...104,061,048 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 chr14:17,465,210...17,467,255 JBrowse link
G Dmd dystrophin IDA associated with Status Epilepticus RGD PMID:22338606 RGD:6771363 NCBI chr  X:51,070,098...53,437,845 JBrowse link
G F2 coagulation factor II, thrombin IEP associated with Cerebral Hemorrhage RGD PMID:20541575 RGD:5490126 NCBI chr 3:98,051,958...98,065,246 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 JBrowse link
G Gfap glial fibrillary acidic protein IEP associated with Embolism, Fat;protein:increased expression:brain RGD PMID:20111877 RGD:5490129 NCBI chr10:88,352,987...88,361,661 JBrowse link
G Hmox1 heme oxygenase 1 IEP associated with Cerebral Hemorrhage;mRNA, protein:increased expression:brain RGD PMID:23438812 RGD:10766444 NCBI chr19:13,452,365...13,479,823 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 8:27,829,688...27,841,618 JBrowse link
G Il18 interleukin 18 treatment IDA associated with Status Epilepticus RGD PMID:22338606 RGD:6771363 NCBI chr 8:59,802,072...59,829,275 JBrowse link
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ISO mRNA:increased expression:neocortex,Pyramidal cells (human) RGD PMID:27487831 RGD:329969876 NCBI chr 1:79,956,380...79,974,354 JBrowse link
G Map3k7 mitogen activated protein kinase kinase kinase 7 ISO RGD PMID:26347470 RGD:11074637 NCBI chr 5:51,149,524...51,212,012 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 3:174,103,474...174,111,434 JBrowse link
G Myl9 myosin light chain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17419808 NCBI chr 3:165,742,020...165,748,409 JBrowse link
G Mylk myosin light chain kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19943851 NCBI chr11:79,288,243...79,535,450 JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19374494 NCBI chr10:64,313,335...64,349,221 JBrowse link
G Ntn1 netrin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:29162556 NCBI chr10:52,899,933...53,098,591 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 chr16:75,943,061...76,022,037 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 chr15:3,505,485...3,511,987 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 chr20:12,372,345...12,381,159 JBrowse link
G Scn3b sodium voltage-gated channel beta subunit 3 ISO mRNA:increased expression:neocortex,Pyramidal cells (human) RGD PMID:27487831 RGD:329969876 NCBI chr 8:49,527,529...49,550,019 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 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 JBrowse link
G Sod2 superoxide dismutase 2 ISO mRNA:increased expression:neocortex,Pyramidal cells (human) RGD PMID:27487831 RGD:329969876 NCBI chr 1:50,043,323...50,050,168 JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21276434 NCBI chr20:3,626,685...3,629,303 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 9:22,452,854...22,468,194 JBrowse link
Cardiac Edema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22865611 NCBI chr 4:85,812,784...85,824,964 JBrowse link
G Ift122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chr 4:148,905,031...148,975,458 JBrowse link
G Ubiad1 UbiA prenyltransferase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23533172 NCBI chr 5:164,139,714...164,167,777 JBrowse link
central conducting lymphatic anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: EPHB4-associated vascular malformation spectrum | ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to | ClinVar Annotator: match by term: Lymphatic malformation 7 OMIM
ClinVar
PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29444212 More... NCBI chr12:24,963,174...24,988,473 JBrowse link
G Mdfic MyoD family inhibitor domain containing ISS
ISO
OMIM:617300
ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY
MouseDO
ClinVar
PMID:25741868 PMID:35235341 NCBI chr 4:43,972,310...44,052,162 JBrowse link
G Slc12a9 solute carrier family 12, member 9 ISO ClinVar Annotator: match by term: Lymphatic malformation 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:19,368,990...19,385,881 JBrowse link
dehydrated hereditary stomatocytosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema ClinVar PMID:25741868 NCBI chr 1:79,956,380...79,974,354 JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:89283 PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 More... NCBI chr19:50,544,580...50,606,812 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:27122014 PMID:27290639 PMID:27616477 PMID:28492532 More... NCBI chr 2:173,518,971...173,521,036 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 Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 ClinVar PMID:25719457 NCBI chr16:78,047,591...78,183,360 JBrowse link
G Naxe NAD(P)HX epimerase ISO ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | ClinVar Annotator: match by term: NAXE-related condition OMIM
ClinVar
PMID:25741868 PMID:27290639 PMID:27616477 PMID:28492532 PMID:33798445 NCBI chr 2:173,518,971...173,521,036 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: NAXD-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:30576410 PMID:31755961 PMID:32462209 More... NCBI chr16:77,986,148...78,004,200 JBrowse link
Greenberg dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia
DNA:mutations:cds:multiple (human)
OMIM
ClinVar
RGD
PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 More... RGD:9588626 NCBI chr13:93,539,386...93,564,026 JBrowse link
Hydrops Fetalis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr19:68,781,168...68,784,194 JBrowse link
G Alb albumin disease_progression ISO RGD PMID:17195148 RGD:11036098 NCBI chr14:17,891,564...17,907,043 JBrowse link
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr10:10,614,953...10,635,815 JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 5:151,192,014...151,269,291 JBrowse link
G C13h1orf105 similar to human chromosome 1 open reading frame 105 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr13:74,313,320...74,356,322 JBrowse link
G Ccbe1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19911200 NCBI chr18:61,849,821...62,093,876 JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 3:78,862,286...78,877,353 JBrowse link
G Ctsa cathepsin A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 3:153,569,106...153,574,983 JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 5:121,344,552...121,371,124 JBrowse link
G Dnah14 dynein axonemal heavy chain 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr13:95,853,735...96,070,327 JBrowse link
G Dnah9 dynein, axonemal, heavy chain 9 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:28492532 PMID:30471718 PMID:33027564 NCBI chr10:50,496,174...50,864,909 JBrowse link
G Ehbp1l1 EH domain binding protein 1-like 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:34645488 NCBI chr 1:212,423,444...212,444,357 JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:121,927,266...122,056,700 JBrowse link
G Fen1 flap structure-specific endonuclease 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 1:216,270,016...216,274,873 JBrowse link
G Foxc2 forkhead box C2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr19:66,094,718...66,097,420 JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:11137992 PMID:11295725 PMID:16920951 PMID:22590469 PMID:25546394 More... NCBI chr  X:17,580,380...17,601,181 JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr 7:70,055,012...70,086,781 JBrowse link
G Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr 6:21,756,039...21,977,533 JBrowse link
G Gusb glucuronidase, beta ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:1702266 PMID:1779626 PMID:7573038 PMID:7680524 PMID:8644704 More... NCBI chr12:32,337,281...32,350,838 JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: HEMOGLOBIN H HYDROPS FETALIS SYNDROME | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:868864 PMID:8237999 PMID:9029003 PMID:11722414 PMID:17296578 More... NCBI chr10:15,311,637...15,312,481 JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More... NCBI chr 1:205,712,625...205,729,406 JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:25741868 PMID:28492532 NCBI chr16:18,418,807...18,432,515 JBrowse link
G Kif19 kinesin family member 19 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr10:99,800,185...99,826,546 JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:24549645 PMID:25741868 NCBI chr 4:179,916,255...179,949,613 JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More... NCBI chr 1:196,299,843...196,315,170 JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:25303977 PMID:25741868 PMID:28492532 PMID:32981126 PMID:33258288 NCBI chr11:83,487,717...83,503,896 JBrowse link
G Mocs3 molybdenum cofactor synthesis 3 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 3:156,939,763...156,941,723 JBrowse link
G Mybphl myosin binding protein H-like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 2:196,005,297...196,018,826 JBrowse link
G Myo18a myosin XVIIIa ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr10:62,654,218...62,755,465 JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: MYOM1-related non-immune fetal hydrops | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 PMID:28492532 PMID:31130284 NCBI chr 9:118,362,547...118,485,954 JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 1:206,854,175...206,886,276 JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:18330676 PMID:25205138 PMID:25741868 PMID:26036949 PMID:26841830 More... NCBI chr 3:36,613,677...36,811,618 JBrowse link
G Neu1 neuraminidase 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar NCBI chr20:3,897,480...3,901,745 JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr17:9,311,963...9,426,373 JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Hydrops fetalis | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:27479843 PMID:28492532 PMID:28619848 PMID:30187933 More... NCBI chr19:50,544,580...50,606,812 JBrowse link
G Pigc phosphatidylinositol glycan anchor biosynthesis, class C ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr13:74,343,619...74,346,148 JBrowse link
G Prpf19 pre-mRNA processing factor 19 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 1:216,966,104...216,977,549 JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:14644997 More... NCBI chr12:41,026,079...41,085,577 JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:10449659 PMID:25741868 PMID:31680349 NCBI chr 3:77,015,073...77,024,378 JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:23791108 PMID:24469055 PMID:24939608 PMID:25049390 PMID:25124994 More... NCBI chr 2:174,180,742...174,195,455 JBrowse link
G Rock2 Rho-associated coiled-coil containing protein kinase 2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 6:45,407,823...45,502,773 JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:17033962 PMID:18414213 PMID:20080402 PMID:21911697 PMID:22473935 More... NCBI chr 1:84,292,578...84,423,824 JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr 3:99,431,755...99,979,125 JBrowse link
G Serpina11 serpin family A member 11 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 6:122,903,246...122,912,695 JBrowse link
G Sftpa1 surfactant protein A1 ISO protein:decreased expression:lung RGD PMID:7590701 RGD:4143453 NCBI chr16:17,008,180...17,011,686 JBrowse link
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:22670144 PMID:25137548 PMID:25741868 PMID:28492532 PMID:29907801 More... NCBI chr 1:252,958,939...253,048,820 JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr10:65,464,948...65,510,846 JBrowse link
G Svopl SVOP like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 4:66,697,550...66,751,699 JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 PMID:28749478 NCBI chr16:69,771,408...69,804,844 JBrowse link
G Ubn1 ubinuclein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr10:10,496,576...10,532,010 JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 5:162,113,732...162,339,121 JBrowse link
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia | ClinVar Annotator: match by term: LARS2-related condition OMIM
ClinVar
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 More... NCBI chr 8:131,887,728...131,983,866 JBrowse link
Lymphatic Malformation 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mdfic MyoD family inhibitor domain containing ISO ClinVar Annotator: match by term: Lymphatic malformation 12 OMIM
ClinVar
PMID:25741868 PMID:35235341 NCBI chr 4:43,972,310...44,052,162 JBrowse link
Lymphatic Malformation 13 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 ClinVar Annotator: match by term: Lymphatic malformation 13 OMIM
ClinVar
PMID:25741868 PMID:26036949 PMID:28749478 PMID:30055085 PMID:33569873 NCBI chr16:69,771,408...69,804,844 JBrowse link
Lymphatic Malformation 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calcrl calcitonin receptor like receptor ISO ClinVar Annotator: match by term: Lymphatic malformation 8 OMIM
ClinVar
PMID:25741868 NCBI chr 3:89,835,071...89,932,616 JBrowse link
Nuchal Bleb, Familial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:1695717 PMID:7683952 PMID:7691345 PMID:9239681 PMID:9725922 More... NCBI chr 4:47,422,084...47,694,646 JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:25795793 PMID:28492532 PMID:30368668 PMID:30442762 More... NCBI chr11:83,487,717...83,503,896 JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Nuchal bleb, familial ClinVar PMID:17143285 PMID:17586837 PMID:20186801 PMID:20301303 PMID:21387466 More... NCBI chr 6:20,286,117...20,363,350 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 PMID:28492532 NCBI chr14:103,104,091...103,256,112 JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:decreased expression:cerebrospinal fluid: RGD PMID:11701291 RGD:8548849 NCBI chr 7:24,169,608...24,249,446 JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: PEHO syndrome ClinVar PMID:21376300 PMID:25253658 PMID:25265257 PMID:25533962 PMID:25741868 More... NCBI chr 9:101,010,447...101,094,891 JBrowse link
G Znhit3 zinc finger, HIT-type containing 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Infantile cerebellooptic atrophy | ClinVar Annotator: match by term: PEHO syndrome
OMIM
CTD
ClinVar
PMID:25741868 PMID:28335020 PMID:28492532 PMID:31048081 NCBI chr10:69,775,885...69,790,471 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    Pathological Conditions, Signs and Symptoms 13623
      Signs and Symptoms 11213
        Edema 136
          Cardiac Edema 3
          Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency 0
          Hydrops Fetalis + 60
          Ketoadipicaciduria 0
          Landy Donnai Syndrome 0
          Prepubertal Familial Idiopathic Edema 0
          brain edema + 40
paths to the root