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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 component of inhibitor of nuclear factor kappa B kinase complex JBrowse link NW_004936636 33,933 78,990 RGD:9068941
G Nos2 nitric oxide synthase 2 JBrowse link NW_004936538 4,052,277 4,097,051 RGD:9068941
G Prkcb protein kinase C beta JBrowse link NW_004936501 8,410,273 8,729,238 RGD:9068941
G Prss8 serine protease 8 JBrowse link NW_004936501 13,487,863 13,491,837 RGD:9068941
Bowen-Conradi syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Emg1 EMG1 N1-specific pseudouridine methyltransferase JBrowse link NW_004936709 847,229 854,471 RGD:7240710
RGD:9068941
chorioamnionitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ager advanced glycosylation end-product specific receptor JBrowse link NW_004936727 1,418,342 1,422,005 RGD:9068941
G Fas Fas cell surface death receptor JBrowse link NW_004936735 209,369 234,582 RGD:9068941
G Il1a interleukin 1 alpha JBrowse link NW_004936783 1,210,715 1,218,315 RGD:9068941
G Lta lymphotoxin alpha JBrowse link NW_004936727 1,940,081 1,941,022 RGD:9068941
G Mmp9 matrix metallopeptidase 9 JBrowse link NW_004936514 7,038,240 7,045,873 RGD:9068941
G Tgfb1 transforming growth factor beta 1 JBrowse link NW_004936661 3,742,080 3,758,266 RGD:9068941
G Tnf tumor necrosis factor JBrowse link NW_004936727 1,936,066 1,937,766 RGD:9068941
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 NW_004936538 2,741,308 2,757,042 RGD:9068941
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 NW_004936636 33,933 78,990 RGD:7240710
RGD:9068941
Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piezo1 piezo type mechanosensitive ion channel component 1 JBrowse link NW_004936641 932,291 980,440 RGD:7240710
RGD:9068941
Diabetic Embryopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fadd Fas associated via death domain JBrowse link NW_004936599 633,501 639,412 RGD:9068941
fetal alcohol spectrum disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoe apolipoprotein E JBrowse link NW_004936706 1,512,438 1,516,805 RGD:9068941
G Cat catalase JBrowse link NW_004936533 3,601,270 3,637,128 RGD:9068941
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link NW_004936587 3,406,055 3,806,956 RGD:9068941
G Igf1 insulin like growth factor 1 JBrowse link NW_004936492 11,709,623 11,784,028 RGD:9068941
G Igf1r insulin like growth factor 1 receptor JBrowse link NW_004936483 4,563,995 4,860,231 RGD:9068941
G Nos1 nitric oxide synthase 1 JBrowse link NW_004936558 5,162,471 5,302,488 RGD:9068941
G Pten phosphatase and tensin homolog JBrowse link NW_004936735 1,252,414 1,338,318 RGD:9068941
fetal erythroblastosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ermap erythroblast membrane associated protein (Scianna blood group) JBrowse link NW_004936474 24,149,628 24,161,492 RGD:9068941
G Slc29a1 solute carrier family 29 member 1 (Augustine blood group) JBrowse link NW_004936476 15,849,054 15,862,486 RGD:9068941
Fetal Growth Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb1 ATP binding cassette subfamily B member 1 JBrowse link NW_004936763 1,225,355 1,308,257 RGD:9068941
G Acta2 actin alpha 2, smooth muscle JBrowse link NW_004936735 266,918 283,858 RGD:9068941
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link NW_004936578 3,168,599 3,179,369 RGD:9068941
G Adipor1 adiponectin receptor 1 JBrowse link NW_004936567 1,658,405 1,674,794 RGD:9068941
G Adipor2 adiponectin receptor 2 JBrowse link NW_004936606 1,911,104 2,007,109 RGD:9068941
G Agt angiotensinogen JBrowse link NW_004936484 19,713,299 19,721,144 RGD:9068941
G Agtr1 angiotensin II receptor type 1 JBrowse link NW_004936519 6,831,096 6,873,977 RGD:9068941
G Agtr2 angiotensin II receptor type 2 JBrowse link NW_004936479 13,252,678 13,255,570 RGD:9068941
G Apoe apolipoprotein E JBrowse link NW_004936706 1,512,438 1,516,805 RGD:9068941
G Apoh apolipoprotein H JBrowse link NW_004936541 6,683,483 6,695,094 RGD:9068941
G Atp5f1a ATP synthase F1 subunit alpha JBrowse link NW_004936517 743,036 752,836 RGD:9068941
G Atp5f1b ATP synthase F1 subunit beta JBrowse link NW_004936646 951,236 958,907 RGD:9068941
G Bax BCL2 associated X, apoptosis regulator JBrowse link NW_004936664 2,968,103 2,973,652 RGD:9068941
G Bcl2 BCL2 apoptosis regulator JBrowse link NW_004936497 2,209,136 2,373,580 RGD:9068941
G Bmp4 bone morphogenetic protein 4 JBrowse link NW_004936697 1,054,237 1,061,468 RGD:9068941
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase JBrowse link NW_004936493 5,308,268 5,332,934 RGD:9068941
G Casp3 caspase 3 JBrowse link NW_004936554 4,571,072 4,593,765 RGD:9068941
G Col2a1 collagen type II alpha 1 chain JBrowse link NW_004936512 5,861,933 5,894,898 RGD:9068941
G Comt catechol-O-methyltransferase JBrowse link NW_004936619 3,847,059 3,883,866 RGD:9068941
G Cps1 carbamoyl-phosphate synthase 1 JBrowse link NW_004936586 5,739,038 5,850,317 RGD:9068941
G Cth cystathionine gamma-lyase JBrowse link NW_004936591 1,619,446 1,643,667 RGD:9068941
G Des desmin JBrowse link NW_004936569 1,807,902 1,814,936 RGD:9068941
G Dlk1 delta like non-canonical Notch ligand 1 JBrowse link NW_004936604 4,504,519 4,511,897 RGD:9068941
G Dnmt1 DNA methyltransferase 1 JBrowse link NW_004936659 520,181 565,496 RGD:9068941
G Dnmt3b DNA methyltransferase 3 beta JBrowse link NW_004936485 19,547,836 19,570,716 RGD:9068941
G Dusp1 dual specificity phosphatase 1 JBrowse link NW_004936609 2,688,170 2,691,057 RGD:9068941
G Dusp5 dual specificity phosphatase 5 JBrowse link NW_004936486 1,351,077 1,361,002 RGD:9068941
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link NW_004936551 4,584,438 4,913,829 RGD:9068941
G Elk1 ETS transcription factor ELK1 JBrowse link NW_004936502 13,402,726 13,418,214 RGD:9068941
G Fas Fas cell surface death receptor JBrowse link NW_004936735 209,369 234,582 RGD:9068941
G Faslg Fas ligand JBrowse link NW_004936481 14,789,547 14,795,780 RGD:9068941
G G6pc glucose-6-phosphatase catalytic subunit JBrowse link NW_004936490 17,605,865 17,614,754 RGD:9068941
G Ghrl ghrelin and obestatin prepropeptide JBrowse link NW_004936602 3,037,862 3,044,863 RGD:9068941
G Ghsr growth hormone secretagogue receptor JBrowse link NW_004936593 268,736 273,623 RGD:9068941
G Glud1 glutamate dehydrogenase 1 JBrowse link NW_004936601 5,415,857 5,435,964 RGD:9068941
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 JBrowse link NW_004936515 8,937,391 9,236,438 RGD:9068941
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A JBrowse link NW_004936530 8,286,101 8,612,183 RGD:9068941
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link NW_004936587 3,406,055 3,806,956 RGD:9068941
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha JBrowse link NW_004936493 6,182,786 6,224,601 RGD:9068941
G Hdac1 histone deacetylase 1 JBrowse link NW_004936474 15,320,635 15,351,418 RGD:9068941
G Hdac2 histone deacetylase 2 JBrowse link NW_004936679 2,448,676 2,474,641 RGD:9068941
G Hdac8 histone deacetylase 8 JBrowse link NW_004936762 1,425,337 1,652,058 RGD:9068941
G Hnf4a hepatocyte nuclear factor 4 alpha JBrowse link NW_004936530 2,401,053 2,425,989 RGD:9068941
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 JBrowse link NW_004936475 17,882,663 17,888,708 RGD:9068941
G Igf1 insulin like growth factor 1 JBrowse link NW_004936492 11,709,623 11,784,028 RGD:9068941
G Igf1r insulin like growth factor 1 receptor JBrowse link NW_004936483 4,563,995 4,860,231 RGD:9068941
G Igf2 insulin like growth factor 2 JBrowse link NW_004936816 972,902 981,232 RGD:9068941
G Igfbp3 insulin like growth factor binding protein 3 JBrowse link NW_004936478 20,511,490 20,518,251 RGD:9068941
G Il1a interleukin 1 alpha JBrowse link NW_004936783 1,210,715 1,218,315 RGD:9068941
G Irs1 insulin receptor substrate 1 JBrowse link NW_004936525 9,064,442 9,125,972 RGD:9068941
G Irs2 insulin receptor substrate 2 JBrowse link NW_004936472 2,772,187 2,796,398 RGD:9068941
G Lep leptin JBrowse link NW_004936479 15,394,966 15,411,334 RGD:9068941
G LOC101968921 angiotensin-converting enzyme JBrowse link NW_004936541 4,157,847 4,178,156 RGD:9068941
G LOC101969148 cytochrome P450 1A1 JBrowse link NW_004936471 33,682,730 33,688,332 RGD:9068941
G LOC101975532 delta-1-pyrroline-5-carboxylate synthase JBrowse link NW_004936636 3,779,259 3,800,846 RGD:9068941
G LOC101975820 cholesterol side-chain cleavage enzyme, mitochondrial JBrowse link NW_004936471 33,367,810 33,380,764 RGD:9068941
G Mdm2 MDM2 proto-oncogene JBrowse link NW_004936545 6,709,903 6,732,334 RGD:9068941
G Mecp2 methyl-CpG binding protein 2 JBrowse link NW_004936809 902,938 967,771 RGD:9068941
G Mmp2 matrix metallopeptidase 2 JBrowse link NW_004936475 7,801,356 7,825,831 RGD:9068941
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 JBrowse link NW_004936495 8,100,977 8,170,244 RGD:9068941
G Muc1 mucin 1, cell surface associated JBrowse link NW_004936580 4,691,870 4,694,092 RGD:9068941
G Muc2 mucin 2, oligomeric mucus/gel-forming JBrowse link NW_004936816 60,499 91,628 RGD:9068941
G Muc4 mucin 4, cell surface associated JBrowse link NW_004936784 515,608 539,915 RGD:9068941
G Nfe2l2 nuclear factor, erythroid 2 like 2 JBrowse link NW_004936509 6,589,967 6,621,171 RGD:9068941
G Nos1 nitric oxide synthase 1 JBrowse link NW_004936558 5,162,471 5,302,488 RGD:9068941
G Nos2 nitric oxide synthase 2 JBrowse link NW_004936538 4,052,277 4,097,051 RGD:9068941
G Nos3 nitric oxide synthase 3 JBrowse link NW_004936527 6,427,147 6,445,770 RGD:9068941
G Nr3c1 nuclear receptor subfamily 3 group C member 1 JBrowse link NW_004936504 10,960,069 11,056,834 RGD:9068941
G Orc1 origin recognition complex subunit 1 JBrowse link NW_004936522 8,580,661 8,610,750 RGD:9068941
G Otc ornithine carbamoyltransferase JBrowse link NW_004936502 5,234,253 5,291,891 RGD:9068941
G Pck1 phosphoenolpyruvate carboxykinase 1 JBrowse link NW_004936530 361,872 367,005 RGD:9068941
G Pdgfa platelet derived growth factor subunit A JBrowse link NW_004936754 808,894 828,554 RGD:9068941
G Pdgfb platelet derived growth factor subunit B JBrowse link NW_004936492 2,353,840 2,368,573 RGD:9068941
G Pdx1 pancreatic and duodenal homeobox 1 JBrowse link NW_004936472 23,102,534 23,107,127 RGD:9068941
G Pparg peroxisome proliferator activated receptor gamma JBrowse link NW_004936602 1,230,907 1,368,588 RGD:9068941
G Ppargc1a PPARG coactivator 1 alpha JBrowse link NW_004936477 4,881,230 5,488,208 RGD:9068941
G Ptger3 prostaglandin E receptor 3 JBrowse link NW_004936591 1,174,364 1,250,233 RGD:9068941
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link NW_004936481 3,821,564 3,828,086 RGD:9068941
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 JBrowse link NW_004936668 2,602,261 2,687,903 RGD:9068941
G Rbp1 retinol binding protein 1 JBrowse link NW_004936540 1,600,673 1,626,573 RGD:9068941
G Ren renin JBrowse link NW_004936567 598,044 607,628 RGD:9068941
G Samd9 sterile alpha motif domain containing 9 JBrowse link NW_004936803 765,839 782,176 RGD:9068941
G Serpine1 serpin family E member 1 JBrowse link NW_004936543 1,032,543 1,040,956 RGD:9068941
G Sin3a SIN3 transcription regulator family member A JBrowse link NW_004936471 34,206,084 34,260,538 RGD:9068941
G Slc2a1 solute carrier family 2 member 1 JBrowse link NW_004936474 24,205,878 24,236,611 RGD:9068941
G Slc2a2 solute carrier family 2 member 2 JBrowse link NW_004936593 1,572,661 1,605,071 RGD:9068941
G Slc38a2 solute carrier family 38 member 2 JBrowse link NW_004936512 4,543,845 4,557,118 RGD:9068941
G Sod1 superoxide dismutase 1 JBrowse link NW_004936500 10,345,154 10,352,873 RGD:9068941
G Srebf1 sterol regulatory element binding transcription factor 1 JBrowse link NW_004936741 1,408,669 1,419,717 RGD:9068941
G Star steroidogenic acute regulatory protein JBrowse link NW_004936710 1,523,289 1,530,181 RGD:9068941
G Unc13a unc-13 homolog A JBrowse link NW_004936596 3,311,358 3,370,833 RGD:9068941
G Vdr vitamin D receptor JBrowse link NW_004936512 5,741,836 5,800,999 RGD:9068941
Fetal Hypoxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crh corticotropin releasing hormone JBrowse link NW_004936496 7,759,656 7,761,555 RGD:9068941
G Crhr1 corticotropin releasing hormone receptor 1 JBrowse link NW_004936541 2,288,847 2,333,129 RGD:9068941
G Crhr2 corticotropin releasing hormone receptor 2 JBrowse link NW_004936478 6,901,098 6,947,719 RGD:9068941
G Egr1 early growth response 1 JBrowse link NW_004936531 7,625,956 7,629,041 RGD:9068941
G Mmp1 matrix metallopeptidase 1 JBrowse link NW_004936551 5,167,909 5,175,149 RGD:9068941
G Mmp13 matrix metallopeptidase 13 JBrowse link NW_004936551 5,040,084 5,050,384 RGD:9068941
G Nos1 nitric oxide synthase 1 JBrowse link NW_004936558 5,162,471 5,302,488 RGD:9068941
Fetal Macrosomia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hnf4a hepatocyte nuclear factor 4 alpha JBrowse link NW_004936530 2,401,053 2,425,989 RGD:9068941
G Igf1 insulin like growth factor 1 JBrowse link NW_004936492 11,709,623 11,784,028 RGD:9068941
G Igfbp3 insulin like growth factor binding protein 3 JBrowse link NW_004936478 20,511,490 20,518,251 RGD:9068941
G Lipc lipase C, hepatic type JBrowse link NW_004936471 19,604,083 19,733,721 RGD:9068941
G Pten phosphatase and tensin homolog JBrowse link NW_004936735 1,252,414 1,338,318 RGD:9068941
Fetal Nutrition Disorders term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Maoa monoamine oxidase A JBrowse link NW_004936502 9,816,443 9,888,002 RGD:9068941
Finnish Lethal Neonatal Metabolic Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC101961358 mitochondrial chaperone BCS1 JBrowse link NW_004936569 1,104,493 1,108,708 RGD:7240710
RGD:9068941
Greenberg Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lbr lamin B receptor JBrowse link NW_004936526 2,254,463 2,282,785 RGD:7240710
RGD:9068941
Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dclre1b DNA cross-link repair 1B JBrowse link NW_004936690 2,265,957 2,273,915 RGD:9068941
G Dkc1 dyskerin pseudouridine synthase 1 JBrowse link NW_004936927 134,770 144,057 RGD:9068941
G Tert telomerase reverse transcriptase JBrowse link NW_004936815 468,987 492,666 RGD:9068941
Hydrops Fetalis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccbe1 collagen and calcium binding EGF domains 1 JBrowse link NW_004936497 5,290,068 5,321,656 RGD:9068941
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit JBrowse link NW_004936509 4,452,382 4,470,658 RGD:9068941
G Ctsa cathepsin A JBrowse link NW_004936514 7,131,263 7,136,775 RGD:9068941
G CUNH1orf105 chromosome unknown C1orf105 homolog JBrowse link NW_004936481 14,936,108 14,962,504 RGD:9068941
G Dnah14 dynein axonemal heavy chain 14 JBrowse link NW_004936526 1,922,088 2,252,731 RGD:9068941
G Fzd6 frizzled class receptor 6 JBrowse link NW_004936470 40,416,254 40,454,717 RGD:9068941
G Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 JBrowse link NW_004936493 1,984,054 2,184,693 RGD:9068941
G Gusb glucuronidase beta JBrowse link NW_004936543 7,721,273 7,732,468 RGD:9068941
G Jak3 Janus kinase 3 JBrowse link NW_004936596 3,212,593 3,224,426 RGD:9068941
G Myom1 myomesin 1 JBrowse link NW_004936672 1,351,053 1,481,954 RGD:9068941
G Neb nebulin JBrowse link NW_004936469 25,837,577 26,040,271 RGD:9068941
G Pigc phosphatidylinositol glycan anchor biosynthesis class C JBrowse link NW_004936481 14,962,572 14,964,929 RGD:9068941
G Thsd1 thrombospondin type 1 domain containing 1 JBrowse link NW_004936565 4,925,400 4,952,210 RGD:9068941
G Ubn1 ubinuclein 1 JBrowse link NW_004936530 4,795,974 4,826,217 RGD:9068941
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 NW_004936543 794,837 811,637 RGD:9068941
RGD:7240710
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 NW_004936695 353,965 492,014 RGD:9068941
RGD:7240710
IMAGEI Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pole DNA polymerase epsilon, catalytic subunit JBrowse link NW_004936660 2,575,255 2,622,867 RGD:9068941
RGD:7240710
meconium aspiration syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agt angiotensinogen JBrowse link NW_004936484 19,713,299 19,721,144 RGD:9068941
G Agtr2 angiotensin II receptor type 2 JBrowse link NW_004936479 13,252,678 13,255,570 RGD:9068941
G Atf2 activating transcription factor 2 JBrowse link NW_004936509 4,729,984 4,826,367 RGD:9068941
G Scgb1a1 secretoglobin family 1A member 1 JBrowse link NW_004936581 798,738 801,614 RGD:9068941
Megaduodenum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actg2 actin gamma 2, smooth muscle JBrowse link NW_004936556 174,602 220,088 RGD:9068941
G Foxf1 forkhead box F1 JBrowse link NW_004943883 4 1,756 RGD:9068941
Microcephalic Osteodysplastic Primordial Dwarfism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcnt pericentrin JBrowse link NW_004936778 149,844 248,905 RGD:9068941
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 NW_004936469 49,067,357 49,335,212 RGD:9068941
microcephalic osteodysplastic primordial dwarfism type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcnt pericentrin JBrowse link NW_004936778 149,844 248,905 RGD:7240710
RGD:9068941
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 NW_004936509 4,452,382 4,470,658 RGD:7240710
RGD:9068941
G Chrnd cholinergic receptor nicotinic delta subunit JBrowse link NW_004936525 4,560,293 4,568,431 RGD:7240710
RGD:9068941
G Chrng cholinergic receptor nicotinic gamma subunit JBrowse link NW_004936525 4,550,987 4,556,574 RGD:7240710
RGD:9068941
Neu-Laxova syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phgdh phosphoglycerate dehydrogenase JBrowse link NW_004936627 4,414,122 4,448,347 RGD:7240710
RGD:9068941
G Psat1 phosphoserine aminotransferase 1 JBrowse link NW_004936632 4,392,165 4,422,670 RGD:9068941
Perlman syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease JBrowse link NW_004936511 8,082,909 8,105,203 RGD:9068941
G Dis3l2 DIS3 like 3'-5' exoribonuclease 2 JBrowse link NW_004936525 4,718,773 5,058,512 RGD:7240710
RGD:9068941
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 NW_004936520 4,978,896 4,980,648 RGD:7240710
RGD:9068941
Seckel syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cenpj centromere protein J JBrowse link NW_004936720 2,149,296 2,201,599 RGD:7240710
RGD:9068941
G Rnf17 ring finger protein 17 JBrowse link NW_004936720 2,203,868 2,324,851 RGD:9068941
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 NW_004936816 972,902 981,232 RGD:7240710
RGD:9068941
G LOC106145401 insulin, isoform 2 JBrowse link NW_004936816 987,977 1,000,972 RGD:9068941
Trichohepatoenteric Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agk acylglycerol kinase JBrowse link NW_004936592 5,454,860 5,531,285 RGD:9068941
G Nelfe negative elongation factor complex member E JBrowse link NW_004936727 1,589,942 1,596,009 RGD:9068941
G Skiv2l Ski2 like RNA helicase JBrowse link NW_004936727 1,579,208 1,590,215 RGD:9068941
G Ttc37 tetratricopeptide repeat domain 37 JBrowse link NW_004936523 7,786,629 7,885,220 RGD:7240710
RGD:9068941
Trichohepatoenteric Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Skiv2l Ski2 like RNA helicase JBrowse link NW_004936727 1,579,208 1,590,215 RGD:7240710
RGD:9068941

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Path 1
Term Annotations click to browse term
  disease 10612
    Developmental Diseases 6897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6058
        Fetal Diseases 158
          Diabetic Embryopathy 1
          Echogenic Bowel 0
          Fetal Growth Retardation + 110
          Fetal Hypoxia 7
          Fetal Macrosomia + 8
          Fetal Nutrition Disorders 1
          Megaduodenum 2
          Multiple Pterygium Syndrome, Lethal Type 3
          Nuchal Cord 0
          Pyelectasis 0
          chorioamnionitis + 7
          cocoon syndrome 1
          fetal alcohol spectrum disorder + 7
          fetal erythroblastosis + 20
          meconium aspiration syndrome 4
Path 2
Term Annotations click to browse term
  disease 10612
    disease of anatomical entity 10186
      Urogenital Diseases 3177
        Female Urogenital Diseases and Pregnancy Complications 1412
          Pregnancy Complications 418
            Fetal Diseases 158
              Diabetic Embryopathy 1
              Echogenic Bowel 0
              Fetal Growth Retardation + 110
              Fetal Hypoxia 7
              Fetal Macrosomia + 8
              Fetal Nutrition Disorders 1
              Megaduodenum 2
              Multiple Pterygium Syndrome, Lethal Type 3
              Nuchal Cord 0
              Pyelectasis 0
              chorioamnionitis + 7
              cocoon syndrome 1
              fetal alcohol spectrum disorder + 7
              fetal erythroblastosis + 20
              meconium aspiration syndrome 4
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