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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:Pregnancy in Diabetics
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Accession:DOID:9000888 term browser browse the term
Definition:The state of PREGNANCY in women with DIABETES MELLITUS. This does not include either symptomatic diabetes or GLUCOSE INTOLERANCE induced by pregnancy (DIABETES, GESTATIONAL) which resolves at the end of pregnancy.
Synonyms:exact_synonym: Pregnancy in Diabete;   Pregnancy in Diabetes;   Pregnancy in Diabetic
 primary_id: MESH:D011254;   RDO:0002156


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Pregnancy in Diabetics term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANGPT2 angiopoietin 2 ISO associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:plasma RGD PMID:15209761 RGD:2313816 NCBI chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915 		JBrowse link
G APOH apolipoprotein H ISO RGD PMID:11795690 RGD:2313988 NCBI chr17:60,154,389...60,171,762
Ensembl chr17:65,365,250...65,382,483 		JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 ISO mRNA:increased expression:embryo: RGD PMID:18323671 RGD:9586066 NCBI chr  X:144,550,320...144,592,795
Ensembl chr  X:154,389,283...154,428,669 		JBrowse link
G ENG endoglin ISO associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression: serum RGD PMID:18985316 RGD:2313806 NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641 		JBrowse link
G FGF2 fibroblast growth factor 2 ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:14706681 RGD:2315876 NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942 		JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO associated with Diabetes Mellitus, Experimental;mRNA, protein:decreased expression,decreased activity:embryo RGD PMID:12716756 RGD:2315979 NCBI chr12:6,665,218...6,669,170
Ensembl chr12:6,583,895...6,587,729 		JBrowse link
G GC GC vitamin D binding protein ISO protein:decreased expression:plasma RGD PMID:3948765 RGD:2315537 NCBI chr 4:52,431,196...52,473,762
Ensembl chr 4:58,729,236...58,792,073 		JBrowse link
G GHRL ghrelin and obestatin prepropeptide ISO associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:plasma RGD PMID:19046237 RGD:2313747 NCBI chr 3:10,221,829...10,229,229
Ensembl chr 3:10,573,537...10,580,723 		JBrowse link
G PAPPA pappalysin 1 ISO associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:serum RGD PMID:9512318 RGD:2313777 NCBI chr 9:87,287,289...87,535,414
Ensembl chr 9:115,671,212...115,883,435 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO RGD PMID:20129688 RGD:7241238 NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:decreased expression:plasma, placenta,embryo: RGD PMID:19048427 RGD:7483562 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353 		JBrowse link
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNF135 ring finger protein 135 ISO ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome ClinVar PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More... NCBI chr17:25,843,447...25,869,874 JBrowse link
Fetal Macrosomia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HNF4A hepatocyte nuclear factor 4 alpha ISO DNA:mutations: : RGD PMID:17407387 PMID:19435144 RGD:12904698 RGD:12904767 NCBI chr20:40,684,450...40,763,824
Ensembl chr20:41,779,034...41,856,536 		JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:increased expression:serum: RGD PMID:17113804 RGD:12743591 NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO protein:increased expression:serum: RGD PMID:17113804 RGD:12743591 NCBI chr 7:46,564,234...46,573,145 JBrowse link
G LIPC lipase C, hepatic type ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat) RGD PMID:10600655 RGD:2308786 NCBI chr15:37,363,507...37,537,723
Ensembl chr15:55,814,017...55,847,005 		JBrowse link
Perlman syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALPI alkaline phosphatase, intestinal ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:119,687,673...119,692,300
Ensembl chr2B:238,606,722...238,611,350 		JBrowse link
G ARMC9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:118,454,310...118,644,303
Ensembl chr2B:237,243,120...237,412,620 		JBrowse link
G ATG16L1 autophagy related 16 like 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:120,479,534...120,523,563
Ensembl chr2B:239,392,990...239,436,766 		JBrowse link
G B3GNT7 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:118,644,899...118,650,463 JBrowse link
G C13H2orf72 chromosome 13 C2orf72 homolog ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:118,293,626...118,306,034 JBrowse link
G CAB39 calcium binding protein 39 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:117,965,688...118,074,063
Ensembl chr2B:236,809,549...236,870,646 		JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:119,757,722...119,768,254
Ensembl chr2B:238,676,495...238,686,987 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:119,770,636...119,779,332
Ensembl chr2B:238,689,935...238,696,526 		JBrowse link
G COPS7B COP9 signalosome subunit 7B ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:119,033,879...119,061,293
Ensembl chr2B:237,821,398...237,849,340 		JBrowse link
G CTR9 CTR9 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Predisposition to Wilms tumor ClinVar PMID:9536098 PMID:17576681 PMID:25099282 PMID:28492532 NCBI chr11:10,884,353...10,913,246
Ensembl chr11:10,610,892...10,639,808 		JBrowse link
G DGKD diacylglycerol kinase delta ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:120,582,278...120,701,165
Ensembl chr2B:239,525,401...239,611,873 		JBrowse link
G DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:25741868 NCBI chr13:53,982,914...54,011,076
Ensembl chr13:72,760,610...72,787,325 		JBrowse link
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 ISO ClinVar Annotator: match by term: DIS3L2-related condition | ClinVar Annotator: match by term: Perlman syndrome OMIM
ClinVar		 PMID:6093533 PMID:9536098 PMID:10508986 PMID:16199547 PMID:16957732 More... NCBI chr2B:119,187,659...119,558,347
Ensembl chr2B:238,030,931...238,347,570 		JBrowse link
G EFHD1 EF-hand domain family member D1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:119,865,065...119,914,446 JBrowse link
G EIF4E2 eukaryotic translation initiation factor 4E family member 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:119,782,057...119,814,992
Ensembl chr2B:238,700,790...238,733,654 		JBrowse link
G GIGYF2 GRB10 interacting GYF protein 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:119,929,004...120,090,367
Ensembl chr2B:238,847,674...239,007,549 		JBrowse link
G GPR55 G protein-coupled receptor 55 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:118,159,511...118,163,334
Ensembl chr2B:236,958,210...236,959,169 		JBrowse link
G HJURP Holliday junction recognition protein ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:121,076,314...121,096,783
Ensembl chr2B:239,950,984...239,967,955 		JBrowse link
G HTR2B 5-hydroxytryptamine receptor 2B ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:118,362,719...118,381,253
Ensembl chr2B:237,153,709...237,170,591 		JBrowse link
G ITM2C integral membrane protein 2C ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:118,116,228...118,131,379 JBrowse link
G KCNJ13 potassium inwardly rectifying channel subfamily J member 13 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:119,997,643...120,009,927
Ensembl chr2B:238,916,083...238,926,178 		JBrowse link
G LOC100991867 alkaline phosphatase, placental type ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:119,594,655...119,600,138
Ensembl chr2B:238,383,768...238,388,105 		JBrowse link
G LOC100993088 endothelin-converting enzyme-like 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:119,711,355...119,719,378
Ensembl chr2B:238,630,731...238,637,233 		JBrowse link
G MROH2A maestro heat like repeat family member 2A ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:121,034,266...121,074,112 JBrowse link
G NCL nucleolin ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:118,703,148...118,712,893
Ensembl chr2B:237,490,378...237,500,193 		JBrowse link
G NEU2 neuraminidase 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:120,260,420...120,262,930
Ensembl chr2B:239,174,532...239,176,917 		JBrowse link
G NGEF neuronal guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:120,110,441...120,153,934
Ensembl chr2B:239,027,286...239,155,874 		JBrowse link
G NMUR1 neuromedin U receptor 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:118,773,713...118,854,590
Ensembl chr2B:237,556,920...237,564,268 		JBrowse link
G NPPC natriuretic peptide C ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:119,148,774...119,153,381
Ensembl chr2B:237,936,939...237,941,244 		JBrowse link
G PDE6D phosphodiesterase 6D ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:118,984,666...119,033,525
Ensembl chr2B:237,772,529...237,821,044 		JBrowse link
G PRSS56 serine protease 56 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:119,751,950...119,757,308
Ensembl chr2B:238,670,931...238,675,839 		JBrowse link
G PSMD1 proteasome 26S subunit, non-ATPase 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:118,313,158...118,428,636
Ensembl chr2B:237,102,623...237,215,322 		JBrowse link
G PTMA prothymosin alpha ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:118,959,382...118,964,364 JBrowse link
G SAG S-antigen visual arrestin ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:120,532,049...120,574,914
Ensembl chr2B:239,449,910...239,487,537 		JBrowse link
G SNORC secondary ossification center associated regulator of chondrocyte maturation ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:120,100,778...120,110,444 JBrowse link
G SP100 SP100 nuclear antigen ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:117,673,152...117,799,911
Ensembl chr2B:236,496,446...236,601,096 		JBrowse link
G SP110 SP110 nuclear body protein ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:117,417,230...117,472,246
Ensembl chr2B:236,221,833...236,275,562 		JBrowse link
G SP140 SP140 nuclear body protein ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:117,477,923...117,565,367
Ensembl chr2B:236,279,460...236,366,314 		JBrowse link
G SP140L SP140 nuclear body protein like ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:117,578,707...117,663,997
Ensembl chr2B:236,380,818...236,461,871 		JBrowse link
G SPATA3 spermatogenesis associated 3 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:118,246,905...118,265,322
Ensembl chr2B:237,042,156...237,053,441 		JBrowse link
G SPP2 secreted phosphoprotein 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:121,294,427...121,320,831
Ensembl chr2B:240,165,495...240,191,869 		JBrowse link
G TEX44 testis expressed 44 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:118,843,674...118,845,087
Ensembl chr2B:237,627,967...237,629,154 		JBrowse link
G TIGD1 tigger transposable element derived 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:119,779,452...119,782,065
Ensembl chr2B:238,698,311...238,700,086 		JBrowse link
G TRPM8 transient receptor potential cation channel subfamily M member 8 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:121,160,045...121,261,645
Ensembl chr2B:240,039,104...240,130,524 		JBrowse link
G USP40 ubiquitin specific peptidase 40 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr2B:120,704,893...120,796,084
Ensembl chr2B:239,617,442...239,705,721 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15833
    disease of anatomical entity 15489
      Urogenital Diseases 4909
        Female Urogenital Diseases and Pregnancy Complications 2571
          Pregnancy Complications 756
            Pregnancy in Diabetics 61
              Fetal Macrosomia + 50
              Verloove-Vanhorick Brubakk Syndrome 0
paths to the root