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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 chr16:58,404,049...58,458,344
Ensembl chr16:58,405,259...58,457,701 		JBrowse link
G APOH apolipoprotein H ISO RGD PMID:11795690 RGD:2313988 NCBI chr 9:14,082,648...14,095,186
Ensembl chr 9:14,082,541...14,095,185 		JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 ISO mRNA:increased expression:embryo: RGD PMID:18323671 RGD:9586066 NCBI chr  X:123,081,262...123,143,509
Ensembl chr  X:123,081,050...123,140,133 		JBrowse link
G ENG endoglin ISO associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression: serum RGD PMID:18985316 RGD:2313806 NCBI chr 9:55,558,246...55,590,081
Ensembl chr 9:55,558,305...55,589,064 		JBrowse link
G FGF2 fibroblast growth factor 2 ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:14706681 RGD:2315876 NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151 		JBrowse link
G GC GC vitamin D binding protein ISO protein:decreased expression:plasma RGD PMID:3948765 RGD:2315537 NCBI chr13:60,795,305...60,828,038
Ensembl chr13:60,795,305...60,827,929 		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 chr20:8,092,921...8,097,512
Ensembl chr20:8,092,957...8,097,510 		JBrowse link
G LOC100688969 glyceraldehyde-3-phosphate dehydrogenase-like ISO associated with Diabetes Mellitus, Experimental;mRNA, protein:decreased expression,decreased activity:embryo RGD PMID:12716756 RGD:2315979 NCBI chr  X:51,925,654...51,926,724 JBrowse link
G PAPPA pappalysin 1 ISO associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:serum RGD PMID:9512318 RGD:2313777 NCBI chr11:69,979,295...70,220,256
Ensembl chr11:69,982,268...70,219,550 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO RGD PMID:20129688 RGD:7241238 NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:decreased expression:plasma, placenta,embryo: RGD PMID:19048427 RGD:7483562 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965 		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 chr 9:40,794,772...40,809,022
Ensembl chr 9:40,795,297...40,808,737 		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 chr24:31,847,864...31,908,337
Ensembl chr24:31,847,961...31,905,916 		JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:increased expression:serum: RGD PMID:17113804 RGD:12743591 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO protein:increased expression:serum: RGD PMID:17113804 RGD:12743591 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392 		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 chr30:23,432,460...23,584,037
Ensembl chr30:23,432,493...23,584,037 		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 chr25:44,107,418...44,110,947 JBrowse link
G ARMC9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:43,117,272...43,264,854
Ensembl chr25:43,110,182...43,292,123 		JBrowse link
G ATG16L1 autophagy related 16 like 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:44,761,034...44,800,033
Ensembl chr25:44,761,185...44,798,672 		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 chr25:43,287,937...43,293,416 JBrowse link
G C25H2orf72 chromosome 25 C2orf72 homolog ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:42,982,661...42,994,551
Ensembl chr25:42,983,520...42,991,856 		JBrowse link
G CAB39 calcium binding protein 39 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:42,752,798...42,801,257
Ensembl chr25:42,703,332...42,799,279 		JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:44,166,089...44,175,047
Ensembl chr25:44,165,819...44,174,216 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:44,178,149...44,183,623
Ensembl chr25:44,178,181...44,183,626 		JBrowse link
G COPS7B COP9 signalosome subunit 7B ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:43,637,170...43,663,218
Ensembl chr25:43,637,335...43,661,654 		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 chr21:33,915,804...33,949,597
Ensembl chr21:33,915,772...33,949,103 		JBrowse link
G DGKD diacylglycerol kinase delta ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:44,851,827...44,961,352
Ensembl chr25:44,851,493...44,961,364 		JBrowse link
G DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:25741868 NCBI chr22:26,908,502...26,935,368
Ensembl chr22:26,909,409...26,935,033 		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 | ClinVar Annotator: match by term: Predisposition to Wilms tumor OMIM
ClinVar		 PMID:6093533 PMID:9536098 PMID:10508986 PMID:16199547 PMID:16957732 More... NCBI chr25:43,754,382...44,099,497
Ensembl chr25:43,754,484...44,095,381 		JBrowse link
G DNAJB3 DnaJ heat shock protein family (Hsp40) member B3 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:45,143,010...45,144,366 JBrowse link
G ECEL1 endothelin converting enzyme like 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:44,120,200...44,128,049
Ensembl chr25:44,120,196...44,128,046 		JBrowse link
G EFHD1 EF-hand domain family member D1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:44,281,673...44,307,347
Ensembl chr25:44,281,710...44,306,220 		JBrowse link
G EIF4E2 eukaryotic translation initiation factor 4E family member 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:44,192,037...44,203,401
Ensembl chr25:44,192,038...44,214,631 		JBrowse link
G GIGYF2 GRB10 interacting GYF protein 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:44,317,540...44,453,761
Ensembl chr25:44,317,517...44,452,064 		JBrowse link
G GPR55 G protein-coupled receptor 55 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:42,864,869...42,931,786
Ensembl chr25:42,866,416...42,908,332 		JBrowse link
G HJURP Holliday junction recognition protein ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:45,215,165...45,230,603
Ensembl chr25:45,215,380...45,230,547 		JBrowse link
G HTR2B 5-hydroxytryptamine receptor 2B ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:43,042,306...43,056,361
Ensembl chr25:43,042,173...43,056,612 		JBrowse link
G ITM2C integral membrane protein 2C ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:42,829,825...42,842,737
Ensembl chr25:42,829,608...42,883,055 		JBrowse link
G KCNJ13 potassium inwardly rectifying channel subfamily J member 13 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:44,377,848...44,388,537
Ensembl chr25:44,379,635...44,387,993 		JBrowse link
G LOC100856086 tigger transposable element-derived protein 1-like ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 1:99,378,328...99,401,217 JBrowse link
G LOC119866035 small nucleolar RNA SNORD82 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532
G LOC119866038 small nucleolar RNA SNORD20 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532
G MROH2A maestro heat like repeat family member 2A ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:45,166,192...45,213,634
Ensembl chr25:45,167,254...45,213,044 		JBrowse link
G NCL nucleolin ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:43,330,524...43,384,909
Ensembl chr25:43,330,799...43,384,258 		JBrowse link
G NEU2 neuraminidase 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:44,563,664...44,596,837
Ensembl chr25:44,563,411...44,595,653 		JBrowse link
G NGEF neuronal guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:44,473,422...44,547,838
Ensembl chr25:44,474,174...44,547,872 		JBrowse link
G NMUR1 neuromedin U receptor 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:43,395,711...43,400,670
Ensembl chr25:43,399,597...43,411,087 		JBrowse link
G NPPC natriuretic peptide C ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:43,714,545...43,718,969
Ensembl chr25:43,717,939...43,718,996 		JBrowse link
G PDE6D phosphodiesterase 6D ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:43,583,271...43,636,682
Ensembl chr25:43,583,901...43,636,790 		JBrowse link
G PRSS56 serine protease 56 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:44,157,247...44,165,625
Ensembl chr25:44,160,615...44,165,625 		JBrowse link
G PSMD1 proteasome 26S subunit, non-ATPase 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:43,003,127...43,096,281
Ensembl chr25:43,003,143...43,096,271 		JBrowse link
G PTMA prothymosin alpha ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:43,563,145...43,567,987
Ensembl chr25:43,562,395...43,675,699 		JBrowse link
G SAG S-antigen visual arrestin ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:44,800,141...44,843,580
Ensembl chr25:44,812,362...44,843,579 		JBrowse link
G SNORC secondary ossification center associated regulator of chondrocyte maturation ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:44,453,804...44,472,159
Ensembl chr25:44,466,852...44,470,935 		JBrowse link
G SP100 SP100 nuclear antigen ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:42,538,428...42,635,825
Ensembl chr25:42,538,571...42,635,649 		JBrowse link
G SP110 SP110 nuclear body protein ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:42,418,565...42,459,098
Ensembl chr25:42,419,980...42,459,051 		JBrowse link
G SP140 SP140 nuclear body protein ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:42,459,013...42,527,141
Ensembl chr25:42,459,084...42,527,093 		JBrowse link
G SPATA3 spermatogenesis associated 3 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:42,934,828...42,953,515
Ensembl chr25:42,939,335...42,953,590 		JBrowse link
G SPP2 secreted phosphoprotein 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:45,372,221...45,395,117
Ensembl chr25:45,372,254...45,395,082 		JBrowse link
G TEX44 testis expressed 44 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:43,453,253...43,454,573
Ensembl chr25:43,453,310...43,454,437 		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 chr25:45,261,092...45,357,560
Ensembl chr25:45,261,107...45,353,282 		JBrowse link
G UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:45,081,655...45,161,584
Ensembl chr25:45,032,130...45,160,941 		JBrowse link
G USP40 ubiquitin specific peptidase 40 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:44,965,276...45,021,539 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15753
    disease of anatomical entity 15374
      Urogenital Diseases 4909
        Female Urogenital Diseases and Pregnancy Complications 2589
          Pregnancy Complications 782
            Pregnancy in Diabetics 63
              Fetal Macrosomia + 52
              Verloove-Vanhorick Brubakk Syndrome 0
paths to the root