FTP Download
Chinchilla Research Resource Database
   
Keyword
  

ONTOLOGY REPORT - ANNOTATIONS


Term:Fetal Diseases
go back to main search page
Accession:DOID:9001984 term browser browse the term
Definition:Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES.
Synonyms:exact_synonym: Embryopathies;   Embryopathy;   Fetal Disease
 primary_id: MESH:D005315;   RDO:0001592
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Fetal Diseases term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHUK component of inhibitor of nuclear factor kappa B kinase complex JBrowse link 10 100,188,298 100,229,610 RGD:11554173
G NOS2 nitric oxide synthase 2 JBrowse link 17 27,756,766 27,800,529 RGD:2313217
G PRKCB protein kinase C beta JBrowse link 16 23,835,979 24,220,611 RGD:1625524
G PRSS8 serine protease 8 JBrowse link 16 31,131,433 31,135,762 RGD:11554173
Bowen-Conradi syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EMG1 EMG1 N1-specific pseudouridine methyltransferase JBrowse link 12 6,970,781 6,997,428 RGD:8554872
RGD:7240710
chorioamnionitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AGER advanced glycosylation end-product specific receptor JBrowse link 6 32,180,968 32,184,380 RGD:6767308
G FAS Fas cell surface death receptor JBrowse link 10 88,968,429 89,017,061 RGD:12904022
G IL1A interleukin 1 alpha JBrowse link 2 112,773,915 112,785,398 RGD:11554173
G IL6 interleukin 6 JBrowse link 7 22,725,889 22,732,002 RGD:5128667
RGD:12792243
RGD:12791291
G LTA lymphotoxin alpha JBrowse link 6 31,560,550 31,574,324 RGD:12904055
G MBL2 mannose binding lectin 2 JBrowse link 10 52,764,977 52,772,847 RGD:12910932
G MMP9 matrix metallopeptidase 9 JBrowse link 20 46,008,908 46,016,561 RGD:13204828
G TGFB1 transforming growth factor beta 1 JBrowse link 19 41,330,323 41,353,883 RGD:4145137
G TNF tumor necrosis factor JBrowse link 6 31,575,567 31,578,336 RGD:12904055
chromosome 17q11.2 deletion syndrome, 1.4Mb term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RNF135 ring finger protein 135 JBrowse link 17 30,968,642 30,999,911 RGD:8554872
cocoon syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHUK component of inhibitor of nuclear factor kappa B kinase complex JBrowse link 10 100,188,298 100,229,610 RGD:8554872
RGD:7240710
Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100289580 uncharacterized LOC100289580 JBrowse link 16 88,731,180 88,741,425 RGD:8554872
G PIEZO1 piezo type mechanosensitive ion channel component 1 JBrowse link 16 88,715,338 88,785,220 RGD:8554872
RGD:7240710
Diabetic Embryopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FADD Fas associated via death domain JBrowse link 11 70,203,163 70,207,402 RGD:13792560
fetal alcohol spectrum disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G APOE apolipoprotein E JBrowse link 19 44,905,749 44,909,395 RGD:12904641
G BPIFA1 BPI fold containing family A member 1 JBrowse link 20 33,235,996 33,243,309 RGD:11554173
G CAT catalase JBrowse link 11 34,438,925 34,472,060 RGD:11554173
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 12 13,537,337 13,982,012 RGD:13210751
RGD:13432044
G IGF1 insulin like growth factor 1 JBrowse link 12 102,395,860 102,481,839 RGD:12904886
G IGF1R insulin like growth factor 1 receptor JBrowse link 15 98,648,539 98,964,530 RGD:12904886
G NOS1 nitric oxide synthase 1 JBrowse link 12 117,208,142 117,361,802 RGD:11554173
G PTEN phosphatase and tensin homolog JBrowse link 10 87,863,438 87,971,930 RGD:12801493
fetal erythroblastosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERMAP erythroblast membrane associated protein (Scianna blood group) JBrowse link 1 42,817,105 42,844,989 RGD:8554872
G FCGR2A Fc fragment of IgG receptor IIa JBrowse link 1 161,505,415 161,524,048 RGD:11100009
G SLC29A1 solute carrier family 29 member 1 (Augustine blood group) JBrowse link 6 44,219,505 44,234,151 RGD:8554872
Fetal Growth Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCB1 ATP binding cassette subfamily B member 1 JBrowse link 7 87,503,863 87,713,323 RGD:2306659
G ACE angiotensin I converting enzyme JBrowse link 17 63,477,061 63,498,380 RGD:12879387
G ACTA2 actin alpha 2, smooth muscle JBrowse link 10 88,935,074 88,991,397 RGD:11554173
G ADIPOQ adiponectin, C1Q and collagen domain containing JBrowse link 3 186,842,674 186,858,463 RGD:8695947
G ADIPOR1 adiponectin receptor 1 JBrowse link 1 202,940,825 202,958,572 RGD:8695947
G ADIPOR2 adiponectin receptor 2 JBrowse link 12 1,691,027 1,788,679 RGD:8695947
G AGT angiotensinogen JBrowse link 1 230,702,523 230,714,590 RGD:11538508
RGD:11554173
RGD:13432363
G AGTR1 angiotensin II receptor type 1 JBrowse link 3 148,697,871 148,743,003 RGD:5129179
G AGTR2 angiotensin II receptor type 2 JBrowse link X 116,170,705 116,174,972 RGD:5129179
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 JBrowse link 10 95,605,929 95,656,901 RGD:13434923
G APOE apolipoprotein E JBrowse link 19 44,905,749 44,909,395 RGD:4891147
G APOH apolipoprotein H JBrowse link 17 66,212,029 66,229,438 RGD:10054118
G ARG1 arginase 1 JBrowse link 6 131,573,159 131,584,332 RGD:13792602
G ATP5F1A ATP synthase F1 subunit alpha JBrowse link 18 46,084,144 46,104,233 RGD:13703049
G ATP5F1B ATP synthase F1 subunit beta JBrowse link 12 56,638,175 56,646,068 RGD:13782135
G BAX BCL2 associated X, apoptosis regulator JBrowse link 19 48,954,825 48,961,798 RGD:10054114
G BCL2 BCL2 apoptosis regulator JBrowse link 18 63,123,346 63,320,280 RGD:10054114
G BMP4 bone morphogenetic protein 4 JBrowse link 14 53,949,736 53,956,891 RGD:9068402
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase JBrowse link 2 27,217,390 27,243,792 RGD:2303532
G CASP3 caspase 3 JBrowse link 4 184,627,696 184,649,475 RGD:10054114
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 47,972,965 48,006,212 RGD:8661261
G COMT catechol-O-methyltransferase JBrowse link 22 19,941,740 19,969,975 RGD:11554173
G CPS1 carbamoyl-phosphate synthase 1 JBrowse link 2 210,477,682 210,679,107 RGD:2303532
G CTH cystathionine gamma-lyase JBrowse link 1 70,411,218 70,441,949 RGD:11554173
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 JBrowse link 15 74,337,762 74,367,740 RGD:4832477
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 JBrowse link 8 142,872,357 142,879,820 RGD:4891147
G CYP11B2 cytochrome P450 family 11 subfamily B member 2 JBrowse link 8 142,910,559 142,917,843 RGD:4891147
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 JBrowse link 15 74,719,542 74,725,610 RGD:2306659
RGD:11576317
RGD:11576311
G DES desmin JBrowse link 2 219,418,377 219,426,739 RGD:11554173
G DLK1 delta like non-canonical Notch ligand 1 JBrowse link 14 100,726,865 100,738,224 RGD:11554173
G DNMT1 DNA methyltransferase 1 JBrowse link 19 10,133,344 10,195,135 RGD:9588242
RGD:9590296
RGD:9588619
G DNMT3B DNA methyltransferase 3 beta JBrowse link 20 32,762,385 32,809,356 RGD:9590296
G DUSP1 dual specificity phosphatase 1 JBrowse link 5 172,768,090 172,771,200 RGD:7771581
G DUSP5 dual specificity phosphatase 5 JBrowse link 10 110,497,867 110,511,544 RGD:2317872
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 11 103,109,431 103,479,863 RGD:8554872
G ELK1 ETS transcription factor ELK1 JBrowse link X 47,635,520 47,650,604 RGD:7488901
G FAS Fas cell surface death receptor JBrowse link 10 88,968,429 89,017,061 RGD:12903973
RGD:12904025
G FASLG Fas ligand JBrowse link 1 172,659,008 172,666,873 RGD:12903972
RGD:12904025
G G6PC glucose-6-phosphatase catalytic subunit JBrowse link 17 42,900,797 42,914,433 RGD:2315963
G GHRL ghrelin and obestatin prepropeptide JBrowse link 3 10,285,750 10,292,947 RGD:12904883
G GHSR growth hormone secretagogue receptor JBrowse link 3 172,443,291 172,448,456 RGD:12904883
G GLUD1 glutamate dehydrogenase 1 JBrowse link 10 87,050,202 87,095,047 RGD:11554173
G GRIA1 glutamate ionotropic receptor AMPA type subunit 1 JBrowse link 5 153,490,524 153,813,873 RGD:4107070
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A JBrowse link 16 9,753,404 10,182,928 RGD:4107070
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 12 13,537,337 13,982,012 RGD:13210763
G GSTM1 glutathione S-transferase mu 1 JBrowse link 1 109,687,796 109,693,745 RGD:10450795
RGD:12792219
G GSTT1 glutathione S-transferase theta 1 RGD:10450795
RGD:12792219
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha JBrowse link 2 26,190,635 26,244,726 RGD:1599884
G HDAC1 histone deacetylase 1 JBrowse link 1 32,292,103 32,333,628 RGD:2311214
RGD:9590296
RGD:9588242
G HDAC2 histone deacetylase 2 JBrowse link 6 113,936,156 113,971,195 RGD:9590296
G HDAC8 histone deacetylase 8 JBrowse link X 72,329,516 72,573,103 RGD:8554872
G HNF4A hepatocyte nuclear factor 4 alpha JBrowse link 20 44,355,801 44,432,845 RGD:12904699
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 JBrowse link 16 67,431,133 67,437,553 RGD:2308941
G IGF1 insulin like growth factor 1 JBrowse link 12 102,395,860 102,481,839 RGD:2306715
RGD:12910460
RGD:12904720
RGD:1600258
G IGF1R insulin like growth factor 1 receptor JBrowse link 15 98,648,539 98,964,530 RGD:1624299
RGD:11554173
RGD:12904724
RGD:12904720
G IGF2 insulin like growth factor 2 JBrowse link 11 2,129,112 2,149,603 RGD:11554173
G IGFBP3 insulin like growth factor binding protein 3 JBrowse link 7 45,912,245 45,921,272 RGD:10402581
RGD:12743599
RGD:12743590
RGD:12743585
RGD:12743583
RGD:1600258
G IL1A interleukin 1 alpha JBrowse link 2 112,773,915 112,785,398 RGD:2311066
G IRS1 insulin receptor substrate 1 JBrowse link 2 226,731,317 226,798,790 RGD:8661261
G IRS2 insulin receptor substrate 2 JBrowse link 13 109,753,837 109,786,567 RGD:7257699
G LEP leptin JBrowse link 7 128,241,201 128,257,629 RGD:5128507
G LINC00908 long intergenic non-protein coding RNA 908 JBrowse link 18 76,528,655 76,559,827 RGD:11554173
G MDM2 MDM2 proto-oncogene JBrowse link 12 68,808,149 68,845,544 RGD:2317395
G MECP2 methyl-CpG binding protein 2 JBrowse link X 154,021,800 154,097,731 RGD:9588242
G MMP2 matrix metallopeptidase 2 JBrowse link 16 55,478,830 55,506,691 RGD:13204803
RGD:11554173
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 JBrowse link 14 64,388,041 64,460,007 RGD:12910955
RGD:12914148
RGD:12910958
G MUC1 mucin 1, cell surface associated JBrowse link 1 155,185,824 155,192,915 RGD:7349369
G MUC2 mucin 2, oligomeric mucus/gel-forming JBrowse link 11 1,074,875 1,110,508 RGD:7349369
G MUC4 mucin 4, cell surface associated JBrowse link 3 195,746,765 195,811,973 RGD:7349369
G NFE2L2 nuclear factor, erythroid 2 like 2 JBrowse link 2 177,230,303 177,265,131 RGD:10412716
G NOS1 nitric oxide synthase 1 JBrowse link 12 117,208,142 117,361,802 RGD:5132592
G NOS2 nitric oxide synthase 2 JBrowse link 17 27,756,766 27,800,529 RGD:5132592
G NOS3 nitric oxide synthase 3 JBrowse link 7 150,991,056 151,014,599 RGD:5132592
RGD:13792602
RGD:11554173
G NR3C1 nuclear receptor subfamily 3 group C member 1 JBrowse link 5 143,277,931 143,435,512 RGD:2308941
RGD:4892120
G ORC1 origin recognition complex subunit 1 JBrowse link 1 52,372,829 52,404,471 RGD:11554173
G OTC ornithine carbamoyltransferase JBrowse link X 38,352,483 38,421,450 RGD:4144077
G PCK1 phosphoenolpyruvate carboxykinase 1 JBrowse link 20 57,561,081 57,566,461 RGD:10448276
G PDGFA platelet derived growth factor subunit A JBrowse link 7 497,245 520,668 RGD:2311066
G PDGFB platelet derived growth factor subunit B JBrowse link 22 39,223,359 39,245,055 RGD:2311066
G PDX1 pancreatic and duodenal homeobox 1 JBrowse link 13 27,919,982 27,926,314 RGD:2311214
G PPARG peroxisome proliferator activated receptor gamma JBrowse link 3 12,287,485 12,471,054 RGD:8552971
G PPARGC1A PPARG coactivator 1 alpha JBrowse link 4 23,792,021 24,472,829 RGD:10059649
G PTGER3 prostaglandin E receptor 3 JBrowse link 1 70,852,353 71,047,808 RGD:10043194
G PTGS2 prostaglandin-endoperoxide synthase 2 JBrowse link 1 186,671,812 186,680,427 RGD:2308941
G PTPN11 protein tyrosine phosphatase non-receptor type 11 JBrowse link 12 112,418,898 112,509,918 RGD:12743586
G RBP1 retinol binding protein 1 JBrowse link 3 139,517,434 139,539,829 RGD:11554173
G REN renin JBrowse link 1 204,154,816 204,166,337 RGD:11554173
G SAMD9 sterile alpha motif domain containing 9 JBrowse link 7 93,099,513 93,118,023 RGD:11554173
G SERPINE1 serpin family E member 1 JBrowse link 7 101,127,089 101,139,266 RGD:13208595
G SIN3A SIN3 transcription regulator family member A JBrowse link 15 75,369,379 75,455,819 RGD:2311214
G SLC2A1 solute carrier family 2 member 1 JBrowse link 1 42,925,375 42,959,176 RGD:730192
RGD:12879480
G SLC2A2 solute carrier family 2 member 2 JBrowse link 3 170,996,341 171,026,979 RGD:12879480
G SLC2A3 solute carrier family 2 member 3 JBrowse link 12 7,919,228 7,936,296 RGD:730192
G SLC38A2 solute carrier family 38 member 2 JBrowse link 12 46,358,188 46,372,862 RGD:9999212
G SOD1 superoxide dismutase 1 JBrowse link 21 31,659,622 31,668,931 RGD:11554173
G SREBF1 sterol regulatory element binding transcription factor 1 JBrowse link 17 17,811,349 17,837,017 RGD:2308805
G STAR steroidogenic acute regulatory protein JBrowse link 8 38,142,700 38,151,082 RGD:4832477
G TFF3 trefoil factor 3 JBrowse link 21 42,311,667 42,315,596 RGD:7349369
G UNC13A unc-13 homolog A JBrowse link 19 17,601,328 17,688,344 RGD:5686390
G VDR vitamin D receptor JBrowse link 12 47,841,537 47,905,031 RGD:11058690
Fetal Hypoxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRH corticotropin releasing hormone JBrowse link 8 66,176,377 66,178,645 RGD:5491006
G CRHR1 corticotropin releasing hormone receptor 1 JBrowse link 17 45,784,280 45,835,828 RGD:5491006
G CRHR2 corticotropin releasing hormone receptor 2 JBrowse link 7 30,649,406 30,700,103 RGD:5491006
G EGR1 early growth response 1 JBrowse link 5 138,465,492 138,469,315 RGD:10395301
G MMP1 matrix metallopeptidase 1 JBrowse link 11 102,789,910 102,798,235 RGD:7207283
G MMP13 matrix metallopeptidase 13 JBrowse link 11 102,942,992 102,955,734 RGD:7207283
G NOS1 nitric oxide synthase 1 JBrowse link 12 117,208,142 117,361,802 RGD:1642145
Fetal Macrosomia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HNF4A hepatocyte nuclear factor 4 alpha JBrowse link 20 44,355,801 44,432,845 RGD:12904698
RGD:12904767
G IGF1 insulin like growth factor 1 JBrowse link 12 102,395,860 102,481,839 RGD:12743591
G IGFBP3 insulin like growth factor binding protein 3 JBrowse link 7 45,912,245 45,921,272 RGD:12743591
G LIPC lipase C, hepatic type JBrowse link 15 58,410,457 58,568,952 RGD:2308786
G PTEN phosphatase and tensin homolog JBrowse link 10 87,863,438 87,971,930 RGD:8554872
Fetal Nutrition Disorders term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAOA monoamine oxidase A JBrowse link X 43,654,907 43,746,824 RGD:11554173
Finnish Lethal Neonatal Metabolic Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 2 218,659,656 218,663,443 RGD:8554872
RGD:7240710
Greenberg Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LBR lamin B receptor JBrowse link 1 225,401,502 225,428,855 RGD:9588626
RGD:8554872
RGD:7240710
Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DCLRE1B DNA cross-link repair 1B JBrowse link 1 113,904,619 113,914,086 RGD:8554872
G DKC1 dyskerin pseudouridine synthase 1 JBrowse link X 154,762,742 154,777,689 RGD:8554872
G TERT telomerase reverse transcriptase JBrowse link 5 1,253,167 1,295,047 RGD:11554173
Hydrops Fetalis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALB albumin JBrowse link 4 73,404,239 73,421,484 RGD:11036098
G C1orf105 chromosome 1 open reading frame 105 JBrowse link 1 172,418,560 172,468,829 RGD:8554872
G CCBE1 collagen and calcium binding EGF domains 1 JBrowse link 18 59,430,939 59,698,181 RGD:11554173
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit JBrowse link 2 174,747,592 174,764,472 RGD:8554872
G CTSA cathepsin A JBrowse link 20 45,890,144 45,898,820 RGD:8554872
G DNAH14 dynein axonemal heavy chain 14 JBrowse link 1 224,928,422 225,399,294 RGD:8554872
G FCRL4 Fc receptor like 4 JBrowse link 1 157,573,749 157,598,080 RGD:8554872
G FZD6 frizzled class receptor 6 JBrowse link 8 103,298,433 103,332,866 RGD:8554872
G GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 JBrowse link 2 30,888,518 31,138,726 RGD:8554872
G GUSB glucuronidase beta JBrowse link 7 65,960,684 65,982,314 RGD:8554872
G HBA2 hemoglobin subunit alpha 2 JBrowse link 16 172,847 173,710 RGD:8554872
G JAK3 Janus kinase 3 JBrowse link 19 17,824,782 17,848,071 RGD:8554872
G MYOM1 myomesin 1 JBrowse link 18 3,066,807 3,220,108 RGD:8554872
G NEB nebulin JBrowse link 2 151,485,334 151,734,487 RGD:8554872
G PIGC phosphatidylinositol glycan anchor biosynthesis class C JBrowse link 1 172,441,457 172,444,090 RGD:8554872
G SFTPA1 surfactant protein A1 JBrowse link 10 79,610,939 79,615,443 RGD:4143453
G THSD1 thrombospondin type 1 domain containing 1 JBrowse link 13 52,377,167 52,406,494 RGD:8554872
G UBN1 ubinuclein 1 JBrowse link 16 4,846,665 4,882,401 RGD:8554872
HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EPHB4 EPH receptor B4 JBrowse link 7 100,802,565 100,827,521 RGD:8554872
RGD:7240710
RGD:11554173
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LARS2 leucyl-tRNA synthetase 2, mitochondrial JBrowse link 3 45,388,564 45,548,842 RGD:8554872
RGD:7240710
RGD:11554173
G LARS2-AS1 LARS2 antisense RNA 1 JBrowse link 3 45,482,695 45,509,545 RGD:8554872
IMAGe syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDKN1C cyclin dependent kinase inhibitor 1C JBrowse link 11 2,883,218 2,885,804 RGD:8554872
RGD:7240710
IMAGEI Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POLE DNA polymerase epsilon, catalytic subunit JBrowse link 12 132,623,758 132,687,524 RGD:8554872
RGD:7240710
kernicterus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G UGT1A1 UDP glucuronosyltransferase family 1 member A1 JBrowse link 2 233,760,273 233,773,299 RGD:11554173
meconium aspiration syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AGT angiotensinogen JBrowse link 1 230,702,523 230,714,590 RGD:11039054
G AGTR2 angiotensin II receptor type 2 JBrowse link X 116,170,705 116,174,972 RGD:11039054
G ATF2 activating transcription factor 2 JBrowse link 2 175,072,250 175,168,206 RGD:13592920
G SCGB1A1 secretoglobin family 1A member 1 JBrowse link 11 62,419,035 62,423,206 RGD:5144123
Megaduodenum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTG2 actin gamma 2, smooth muscle JBrowse link 2 73,892,966 73,919,653 RGD:8554872
G FOXF1 forkhead box F1 JBrowse link 16 86,510,527 86,514,464 RGD:8554872
Microcephalic Osteodysplastic Primordial Dwarfism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PCNT pericentrin JBrowse link 21 46,324,122 46,445,769 RGD:8554872
microcephalic osteodysplastic primordial dwarfism type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLASP1 cytoplasmic linker associated protein 1 JBrowse link 2 121,337,776 121,649,476 RGD:8554872
G RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) JBrowse link 2 121,530,880 121,531,009 RGD:8554872
RGD:11554173
RGD:7240710
microcephalic osteodysplastic primordial dwarfism type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PCNT pericentrin JBrowse link 21 46,324,122 46,445,769 RGD:11537400
RGD:8554872
RGD:7240710
RGD:11537403
RGD:11537402
RGD:11537401
Multiple Pterygium Syndrome, Lethal Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit JBrowse link 2 174,747,592 174,764,472 RGD:7240710
RGD:8554872
G CHRND cholinergic receptor nicotinic delta subunit JBrowse link 2 232,526,160 232,537,907 RGD:7240710
RGD:8554872
G CHRNG cholinergic receptor nicotinic gamma subunit JBrowse link 2 232,539,727 232,546,328 RGD:7240710
RGD:8554872
Neu-Laxova syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PHGDH phosphoglycerate dehydrogenase JBrowse link 1 119,711,796 119,744,226 RGD:8554872
RGD:7240710
G PSAT1 phosphoserine aminotransferase 1 JBrowse link 9 78,297,075 78,330,093 RGD:11554173
Perlman syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease JBrowse link 13 72,755,402 72,782,128 RGD:8554872
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 JBrowse link 2 231,961,583 232,343,968 RGD:8554872
RGD:11554173
RGD:7240710
G MIR562 microRNA 562 JBrowse link 2 232,172,653 232,172,747 RGD:8554872
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PTF1A pancreas associated transcription factor 1a JBrowse link 10 23,192,531 23,194,252 RGD:8554872
RGD:11554173
RGD:7240710
Seckel syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CENPJ centromere protein J JBrowse link 13 24,882,274 24,922,889 RGD:11541114
RGD:8554872
RGD:7240710
RGD:11541118
G RNF17 ring finger protein 17 JBrowse link 13 24,747,641 24,888,816 RGD:8554872
Severe Growth Restriction with Distinctive Facies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IGF2 insulin like growth factor 2 JBrowse link 11 2,129,112 2,149,603 RGD:8554872
RGD:7240710
G INS-IGF2 INS-IGF2 readthrough JBrowse link 11 2,129,112 2,161,209 RGD:8554872
Trichohepatoenteric Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AGK acylglycerol kinase JBrowse link 7 141,551,278 141,662,153 RGD:8554872
G NELFE negative elongation factor complex member E JBrowse link 6 31,952,087 31,959,087 RGD:8554872
G SKIV2L Ski2 like RNA helicase JBrowse link 6 31,958,804 31,969,852 RGD:8554872
RGD:11554173
G TTC37 tetratricopeptide repeat domain 37 JBrowse link 5 95,463,895 95,555,005 RGD:8554872
RGD:7240710
Trichohepatoenteric Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SKIV2L Ski2 like RNA helicase JBrowse link 6 31,958,804 31,969,852 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15323
    Developmental Diseases 8887
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7216
        Fetal Diseases 180
          Diabetic Embryopathy 1
          Echogenic Bowel 0
          Fetal Growth Retardation + 120
          Fetal Hypoxia 7
          Fetal Macrosomia + 9
          Fetal Nutrition Disorders 1
          Megaduodenum 2
          Multiple Pterygium Syndrome, Lethal Type 3
          Nuchal Cord 0
          Pyelectasis 0
          chorioamnionitis + 9
          cocoon syndrome 1
          fetal alcohol spectrum disorder + 8
          fetal erythroblastosis + 28
          meconium aspiration syndrome 4
Path 2
Term Annotations click to browse term
  disease 15323
    disease of anatomical entity 14207
      Urogenital Diseases 4014
        Female Urogenital Diseases and Pregnancy Complications 1589
          Pregnancy Complications 477
            Fetal Diseases 180
              Diabetic Embryopathy 1
              Echogenic Bowel 0
              Fetal Growth Retardation + 120
              Fetal Hypoxia 7
              Fetal Macrosomia + 9
              Fetal Nutrition Disorders 1
              Megaduodenum 2
              Multiple Pterygium Syndrome, Lethal Type 3
              Nuchal Cord 0
              Pyelectasis 0
              chorioamnionitis + 9
              cocoon syndrome 1
              fetal alcohol spectrum disorder + 8
              fetal erythroblastosis + 28
              meconium aspiration syndrome 4
paths to the root