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ONTOLOGY REPORT - ANNOTATIONS


Term:Fetal Diseases
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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.


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Fetal Diseases term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chuk conserved helix-loop-helix ubiquitous kinase JBrowse link 1 263,848,829 263,884,354 RGD:11554173
G Nos2 nitric oxide synthase 2 JBrowse link 10 66,188,290 66,221,621 RGD:2313217
G Prkcb protein kinase C, beta JBrowse link 1 192,233,569 192,575,339 RGD:1625524
G Prss8 serine protease 8 JBrowse link 1 199,372,519 199,377,035 RGD:11554173
Bowen-Conradi syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Emg1 EMG1 N1-specific pseudouridine methyltransferase JBrowse link 4 157,222,366 157,230,647 RGD:7240710
RGD:8554872
chorioamnionitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ager advanced glycosylation end product-specific receptor JBrowse link 20 4,363,152 4,366,079 RGD:6767308
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:12904022
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:5128667
RGD:12792243
RGD:12791291
G Lta lymphotoxin alpha JBrowse link 20 4,851,889 4,854,677 RGD:12904055
G Mbl2 mannose binding lectin 2 JBrowse link 1 248,435,069 248,442,669 RGD:12910932
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204828
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:4145137
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:12904055
cocoon syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chuk conserved helix-loop-helix ubiquitous kinase JBrowse link 1 263,848,829 263,884,354 RGD:7240710
RGD:8554872
Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnn4 potassium calcium-activated channel subfamily N member 4 JBrowse link 1 81,227,855 81,245,986 RGD:11554173
G Piezo1 piezo-type mechanosensitive ion channel component 1 JBrowse link 19 55,305,494 55,367,680 RGD:7240710
RGD:8554872
fetal alcohol spectrum disorders term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:12904641
G Bpifa1 BPI fold containing family A, member 1 JBrowse link 3 149,624,867 149,630,610 RGD:11554173
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:11554173
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 4 169,541,620 170,000,216 RGD:13210751
RGD:13432044
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:12904886
G Igf1r insulin-like growth factor 1 receptor JBrowse link 1 128,924,921 129,213,816 RGD:12904886
G Nos1 nitric oxide synthase 1 JBrowse link 12 44,214,949 44,405,530 RGD:11554173
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:12801493
fetal erythroblastosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ermap erythroblast membrane-associated protein JBrowse link 5 138,227,168 138,240,509 RGD:8554872
G Fcgr2a Fc fragment of IgG receptor IIa JBrowse link 13 91,146,878 91,163,691 RGD:11100009
G Slc29a1 solute carrier family 29 member 1 JBrowse link 9 17,784,468 17,799,008 RGD:8554872
Fetal Growth Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb1a ATP binding cassette subfamily B member 1A JBrowse link 4 22,339,829 22,517,642 RGD:2306659
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:12879387
G Acta2 actin, alpha 2, smooth muscle, aorta JBrowse link 1 252,537,614 252,550,394 RGD:11554173
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link 11 81,330,845 81,344,488 RGD:8695947
G Adipor1 adiponectin receptor 1 JBrowse link 13 51,240,470 51,260,233 RGD:8695947
G Adipor2 adiponectin receptor 2 JBrowse link 4 151,412,135 151,480,108 RGD:8695947
G Agt angiotensinogen JBrowse link 19 57,321,594 57,333,460 RGD:11554173
RGD:13432363
RGD:11538508
G Agtr1a angiotensin II receptor, type 1a JBrowse link 17 35,907,102 35,958,136 RGD:5129179
G Agtr2 angiotensin II receptor, type 2 JBrowse link X 119,389,480 119,393,845 RGD:5129179
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 1 259,641,673 259,674,521 RGD:13434923
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:4891147
G Apoh apolipoprotein H JBrowse link 10 96,640,013 96,653,939 RGD:10054118
G Bax BCL2 associated X, apoptosis regulator JBrowse link 1 101,451,801 101,457,207 RGD:10054114
G Bcl2 BCL2, apoptosis regulator JBrowse link 13 26,605,426 26,769,374 RGD:10054114
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:9068402
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase JBrowse link 6 26,657,507 26,680,459 RGD:2303532
G Casp3 caspase 3 JBrowse link 16 48,845,011 48,863,249 RGD:10054114
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:8661261
G Comt catechol-O-methyltransferase JBrowse link 11 86,715,981 86,735,630 RGD:11554173
G Cps1 carbamoyl-phosphate synthase 1 JBrowse link 9 74,113,437 74,236,274 RGD:2303532
G Cth cystathionine gamma-lyase JBrowse link 2 264,266,959 264,293,040 RGD:11554173
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 JBrowse link 8 62,798,317 62,809,848 RGD:4832477
G Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 RGD:4891147
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 JBrowse link 7 116,248,759 116,255,205 RGD:4891147
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 JBrowse link 8 62,472,087 62,478,122 RGD:2306659
RGD:11576317
RGD:11576311
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:11554173
G Dlk1 delta like non-canonical Notch ligand 1 JBrowse link 6 133,576,513 133,583,751 RGD:11554173
G Dnmt1 DNA methyltransferase 1 JBrowse link 8 21,922,515 21,968,495 RGD:9588242
RGD:9590296
RGD:9588619
G Dnmt3b DNA methyltransferase 3 beta JBrowse link 3 149,131,541 149,170,061 RGD:9590296
G Dusp1 dual specificity phosphatase 1 JBrowse link 10 16,970,642 16,973,425 RGD:7771581
G Dusp5 dual specificity phosphatase 5 JBrowse link 1 274,245,184 274,258,595 RGD:2317872
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:8554872
G Elk1 ELK1, ETS transcription factor JBrowse link X 1,287,875 1,304,822 RGD:7488901
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:12903973
RGD:12904025
G Faslg Fas ligand JBrowse link 13 79,696,811 79,717,581 RGD:12903972
RGD:12904025
G G6pc glucose-6-phosphatase, catalytic subunit JBrowse link 10 89,286,009 89,296,213 RGD:2315963
G Ghrl ghrelin and obestatin prepropeptide JBrowse link 4 145,674,157 145,678,066 RGD:12904883
G Ghsr growth hormone secretagogue receptor JBrowse link 2 113,065,953 113,071,265 RGD:12904883
G Glud1 glutamate dehydrogenase 1 JBrowse link 16 10,661,486 10,695,557 RGD:11554173
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 JBrowse link 10 42,441,723 42,760,200 RGD:4107070
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A JBrowse link 10 5,707,806 6,123,568 RGD:4107070
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 4 169,541,620 170,000,216 RGD:13210763
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:10450795
RGD:12792219
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:10450795
RGD:12792219
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha JBrowse link 6 27,589,840 27,628,921 RGD:1599884
G Hdac1 histone deacetylase 1 JBrowse link 5 147,716,664 147,743,723 RGD:2311214
RGD:9590296
RGD:9588242
G Hdac2 histone deacetylase 2 JBrowse link 20 43,084,870 43,108,198 RGD:9590296
G Hdac8 histone deacetylase 8 JBrowse link X 72,163,777 72,370,058 RGD:8554872
G Hnf4a hepatocyte nuclear factor 4, alpha JBrowse link 3 159,902,441 159,965,003 RGD:12904699
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 JBrowse link 19 37,476,083 37,481,326 RGD:2308941
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:2306715
RGD:12910460
RGD:12904720
RGD:1600258
G Igf1r insulin-like growth factor 1 receptor JBrowse link 1 128,924,921 129,213,816 RGD:1624299
RGD:12904724
RGD:12904720
RGD:11554173
G Igf2 insulin-like growth factor 2 JBrowse link 1 215,828,102 215,839,081 RGD:11554173
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:10402581
RGD:12743599
RGD:12743590
RGD:12743585
RGD:12743583
RGD:1600258
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:2311066
G Irs1 insulin receptor substrate 1 JBrowse link 9 88,033,668 88,086,488 RGD:8661261
G Irs2 insulin receptor substrate 2 JBrowse link 16 83,824,515 83,848,569 RGD:7257699
G Lep leptin JBrowse link 4 56,337,695 56,351,818 RGD:5128507
G Mdm2 MDM2 proto-oncogene JBrowse link 7 60,719,060 60,743,618 RGD:2317395
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:9588242
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:13204803
RGD:11554173
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 JBrowse link 6 99,282,850 99,350,367 RGD:12910955
RGD:12914148
RGD:12910958
G Muc1 mucin 1, cell surface associated JBrowse link 2 188,543,137 188,547,874 RGD:7349369
G Muc2 mucin 2, oligomeric mucus/gel-forming JBrowse link 1 214,663,929 214,693,197 RGD:7349369
G Muc4 mucin 4, cell surface associated JBrowse link 11 71,242,973 71,285,217 RGD:7349369
G Nfe2l2 nuclear factor, erythroid 2-like 2 JBrowse link 3 62,497,568 62,525,146 RGD:10412716
G Nos1 nitric oxide synthase 1 JBrowse link 12 44,214,949 44,405,530 RGD:5132592
G Nos2 nitric oxide synthase 2 JBrowse link 10 66,188,290 66,221,621 RGD:5132592
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:5132592
RGD:11554173
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 JBrowse link 18 31,728,373 32,704,022 RGD:2308941
RGD:4892120
G Orc1 origin recognition complex, subunit 1 JBrowse link 5 128,186,651 128,212,901 RGD:11554173
G Otc ornithine carbamoyltransferase JBrowse link X 13,524,804 13,601,074 RGD:4144077
G Pck1 phosphoenolpyruvate carboxykinase 1 JBrowse link 3 171,213,936 171,219,885 RGD:10448276
G Pdgfa platelet derived growth factor subunit A JBrowse link 12 17,734,141 17,756,186 RGD:2311066
G Pdgfb platelet derived growth factor subunit B JBrowse link 7 121,215,458 121,233,092 RGD:2311066
G Pdx1 pancreatic and duodenal homeobox 1 JBrowse link 12 9,496,044 9,501,211 RGD:2311220
RGD:2311214
G Pparg peroxisome proliferator-activated receptor gamma JBrowse link 4 147,274,055 147,399,383 RGD:8552971
G Ppargc1a PPARG coactivator 1 alpha JBrowse link 14 63,095,291 63,190,688 RGD:10059649
G Ptger3 prostaglandin E receptor 3 JBrowse link 2 263,895,093 263,979,682 RGD:10043194
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link 13 67,351,230 67,356,920 RGD:2308941
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:12743586
G Rbp1 retinol binding protein 1 JBrowse link 8 106,449,321 106,470,842 RGD:11554173
G Ren renin JBrowse link 13 50,502,724 50,513,953 RGD:11554173
G Samd9 sterile alpha motif domain containing 9 JBrowse link 4 28,304,967 28,324,637 RGD:11554173
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:13208595
G Sin3a SIN3 transcription regulator family member A JBrowse link 8 61,748,590 61,803,314 RGD:2311214
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:730192
RGD:12879480
G Slc2a2 solute carrier family 2 member 2 JBrowse link 2 114,413,427 114,445,418 RGD:12879480
G Slc2a3 solute carrier family 2 member 3 JBrowse link 4 155,549,991 155,626,018 RGD:730192
G Slc38a2 solute carrier family 38, member 2 JBrowse link 7 138,088,654 138,100,869 RGD:9999212
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:11554173
G Srebf1 sterol regulatory element binding transcription factor 1 JBrowse link 10 46,570,996 46,593,021 RGD:2308805
G Srebf1_v2 sterol regulatory element binding factor 1, variant 2 RGD:2308805
G Star steroidogenic acute regulatory protein JBrowse link 16 71,036,204 71,040,847 RGD:4832477
G Tff3 trefoil factor 3 JBrowse link 20 9,850,800 9,855,481 RGD:7349369
G Unc13a unc-13 homolog A JBrowse link 16 20,056,398 20,103,951 RGD:5686390
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:11058690
Fetal Hypoxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crh corticotropin releasing hormone JBrowse link 2 104,459,999 104,461,863 RGD:5491006
G Crhr1 corticotropin releasing hormone receptor 1 JBrowse link 10 92,191,473 92,233,662 RGD:5491006
G Crhr2 corticotropin releasing hormone receptor 2 JBrowse link 4 85,286,371 85,329,374 RGD:5491006
G Egr1 early growth response 1 JBrowse link 18 27,657,903 27,660,101 RGD:10395301
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:7207283
G Mmp13 matrix metallopeptidase 13 JBrowse link 8 5,522,739 5,533,018 RGD:7207283
G Nos1 nitric oxide synthase 1 JBrowse link 12 44,214,949 44,405,530 RGD:1642145
Fetal Macrosomia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hnf4a hepatocyte nuclear factor 4, alpha JBrowse link 3 159,902,441 159,965,003 RGD:12904698
RGD:12904767
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:12743591
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12743591
G Lipc lipase C, hepatic type JBrowse link 8 77,272,582 77,398,485 RGD:2308786
Fetal Nutrition Disorders term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Maoa monoamine oxidase A JBrowse link X 6,554,698 6,620,722 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 9 81,868,158 81,872,201 RGD:7240710
RGD:8554872
Greenberg Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lbr lamin B receptor JBrowse link 13 100,431,390 100,450,209 RGD:7240710
RGD:8554872
RGD:9588626
Growth Restriction, Severe, with Distinctive Facies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Igf2 insulin-like growth factor 2 JBrowse link 1 215,828,102 215,839,081 RGD:7240710
RGD:8554872
G Ins1 insulin 1 JBrowse link 1 272,799,784 272,800,351 RGD:8554872
Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dclre1b DNA cross-link repair 1B JBrowse link 2 206,285,085 206,293,599 RGD:8554872
G Dkc1 dyskerin pseudouridine synthase 1 JBrowse link X 155,844,914 155,862,363 RGD:8554872
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:11554173
Hydrops Fetalis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alb albumin JBrowse link 14 19,176,275 19,191,793 RGD:11036098
G Ccbe1 collagen and calcium binding EGF domains 1 JBrowse link 18 61,758,754 62,013,194 RGD:11554173
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit JBrowse link 3 60,445,657 60,460,724 RGD:8554872
G Ctsa cathepsin A JBrowse link 3 161,298,750 161,304,627 RGD:8554872
G Dnah14 dynein axonemal heavy chain 14 JBrowse link 13
13
99,886,373
101,936,210
100,072,674
101,973,640
RGD:8554872
G Fzd6 frizzled class receptor 6 JBrowse link 7 77,898,329 77,931,034 RGD:8554872
G Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 JBrowse link 6 24,770,308 24,985,711 RGD:8554872
G Gusb glucuronidase, beta JBrowse link 12 30,202,066 30,215,583 RGD:8554872
G Myom1 myomesin 1 JBrowse link 9 119,353,840 119,469,196 RGD:8554872
G Neb nebulin JBrowse link 3 37,658,081 37,855,843 RGD:8554872
G Pigc phosphatidylinositol glycan anchor biosynthesis, class C JBrowse link 13 79,886,832 79,889,305 RGD:8554872
G RGD1309106 similar to hypothetical protein JBrowse link 13 79,856,479 79,901,830 RGD:8554872
G Sftpa1 surfactant protein A1 JBrowse link 16 18,716,019 18,719,404 RGD:4143453
G Thsd1 thrombospondin type 1 domain containing 1 JBrowse link 16 74,680,621 74,712,368 RGD:8554872
G Ubn1 ubinuclein 1 JBrowse link 10 10,690,224 10,725,655 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 12 22,393,338 22,418,332 RGD:8554872
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 8 132,441,277 132,537,176 RGD:8554872
RGD:11554173
IMAGe syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdkn1c cyclin-dependent kinase inhibitor 1C JBrowse link 1 216,661,067 216,663,791 RGD:7240710
RGD:8554872
kernicterus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 JBrowse link 9 95,295,701 95,302,822 RGD:11554173
Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf135 ring finger protein 135 JBrowse link 10 67,531,989 67,551,237 RGD:7240710
RGD:8554872
meconium aspiration syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agt angiotensinogen JBrowse link 19 57,321,594 57,333,460 RGD:11039054
G Agtr2 angiotensin II receptor, type 2 JBrowse link X 119,389,480 119,393,845 RGD:11039054
G Atf2 activating transcription factor 2 JBrowse link 3 60,721,137 60,795,951 RGD:13592920
G Scgb1a1 secretoglobin family 1A member 1 JBrowse link 1 225,279,698 225,283,246 RGD:5144123
Megaduodenum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actg2 actin, gamma 2, smooth muscle, enteric JBrowse link 4 115,215,160 115,239,746 RGD:8554872
Microcephalic Osteodysplastic Primordial Dwarfism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcnt pericentrin JBrowse link 20 12,943,523 13,038,615 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 13 34,365,038 34,584,651 RGD:8554872
microcephalic osteodysplastic primordial dwarfism type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcnt pericentrin JBrowse link 20 12,943,523 13,038,615 RGD:7240710
RGD:8554872
RGD:11537403
RGD:11537402
RGD:11537401
RGD:11537400
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 3 60,445,657 60,460,724 RGD:7240710
G Chrnd cholinergic receptor nicotinic delta subunit JBrowse link 9 94,286,550 94,294,968 RGD:7240710
G Chrng cholinergic receptor nicotinic gamma subunit JBrowse link 9 94,302,218 94,308,591 RGD:7240710
Neu-Laxova syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phgdh phosphoglycerate dehydrogenase JBrowse link 2 200,484,245 200,513,564 RGD:7240710
RGD:8554872
G Psat1 phosphoserine aminotransferase 1 JBrowse link 1 233,124,089 233,145,941 RGD:11554173
Perlman syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dis3l2 DIS3-like 3'-5' exoribonuclease 2 JBrowse link 9 93,767,837 94,161,106 RGD:7240710
RGD:8554872
RGD:11554173
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 17 86,199,623 86,201,477 RGD:7240710
RGD:11554173
RGD:8554872
Seckel syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cenpj centromere protein J JBrowse link 15 36,745,672 36,809,228 RGD:7240710
RGD:8554872
RGD:11541118
RGD:11541114
G Rnf17 ring finger protein 17 JBrowse link 15 36,609,348 36,744,750 RGD:8554872
Trichohepatoenteric Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nelfe negative elongation factor complex member E JBrowse link 20 4,530,328 4,536,085 RGD:8554872
G Skiv2l Ski2 like RNA helicase JBrowse link 20 4,519,457 4,530,177 RGD:8554872
RGD:11554173
G Ttc37 tetratricopeptide repeat domain 37 JBrowse link 2 2,891,265 3,037,602 RGD:7240710
RGD:8554872
Trichohepatoenteric Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Skiv2l Ski2 like RNA helicase JBrowse link 20 4,519,457 4,530,177 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13834
    Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6090
      Fetal Diseases 167
        Echogenic Bowel 0
        Fetal Growth Retardation + 114
        Fetal Hypoxia 7
        Fetal Macrosomia + 6
        Fetal Nutrition Disorders 1
        Megaduodenum 1
        Multiple Pterygium Syndrome, Lethal Type 3
        Nuchal Cord 0
        Pyelectasis 0
        chorioamnionitis + 9
        cocoon syndrome 1
        fetal alcohol spectrum disorders + 8
        fetal erythroblastosis + 25
        meconium aspiration syndrome 4
Path 2
Term Annotations click to browse term
  disease 13834
    disease of anatomical entity 13031
      Urogenital Diseases 3574
        Female Urogenital Diseases and Pregnancy Complications 1501
          Pregnancy Complications 448
            Fetal Diseases 167
              Echogenic Bowel 0
              Fetal Growth Retardation + 114
              Fetal Hypoxia 7
              Fetal Macrosomia + 6
              Fetal Nutrition Disorders 1
              Megaduodenum 1
              Multiple Pterygium Syndrome, Lethal Type 3
              Nuchal Cord 0
              Pyelectasis 0
              chorioamnionitis + 9
              cocoon syndrome 1
              fetal alcohol spectrum disorders + 8
              fetal erythroblastosis + 25
              meconium aspiration syndrome 4
paths to the root