Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Maternal diabetes
go back to main search page
Accession:HP:0009800 term browser browse the term
Definition:Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes.
Synonyms:exact_synonym: gestational diabetes
 narrow_synonym: maternal hyperglycemia
 xref: EFO:0004593;   MESH:D016640;   SNOMEDCT_US:11687002;   UMLS:C0085207;   UMLS:C4020778


show annotations for term's descendants           Sort by:
Maternal diabetes term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC8 ATP binding cassette subfamily C member 8 IAGP HPO ORPHA:99886 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 IAGP HPO ORPHA:3157 NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933 		JBrowse link
G C12orf43 chromosome 12 open reading frame 43 IAGP ClinVar Annotator: match by term: Maternal diabetes ClinVar PMID:9562352 PMID:35299962 NCBI chr12:121,000,486...121,016,487
Ensembl chr12:121,000,486...121,016,502 		JBrowse link
G CDON cell adhesion associated, oncogene regulated IAGP HPO ORPHA:280200 NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335 		JBrowse link
G CLCNKB chloride voltage-gated channel Kb IAGP HPO ORPHA:358 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:93346 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G CRIPTO cripto, EGF-CFC family member IAGP HPO ORPHA:280200 NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457 		JBrowse link
G CTRC chymotrypsin C IAGP HPO ORPHA:103918 NCBI chr 1:15,438,443...15,449,242
Ensembl chr 1:15,438,442...15,449,242 		JBrowse link
G DISP1 dispatched RND transporter family member 1 IAGP HPO ORPHA:280200 NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995 		JBrowse link
G DLL1 delta like canonical Notch ligand 1 IAGP HPO ORPHA:280200 NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565 		JBrowse link
G FCGR3B Fc gamma receptor IIIb IAGP HPO ORPHA:464370 NCBI chr 1:161,623,196...161,631,963
Ensembl chr 1:161,623,196...161,631,963 		JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:280200 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:280200 ORPHA:3157 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FOXH1 forkhead box H1 IAGP HPO ORPHA:280200 NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849 		JBrowse link
G FUZ fuzzy planar cell polarity protein IAGP HPO ORPHA:3027 NCBI chr19:49,806,866...49,813,553
Ensembl chr19:49,806,866...49,817,376 		JBrowse link
G GAS1 growth arrest specific 1 IAGP HPO ORPHA:280200 NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506 		JBrowse link
G GCK glucokinase IAGP ClinVar Annotator: match by term: Gestational diabetes
ClinVar Annotator: match by term: Maternal diabetes		 ClinVar PMID:8068341 PMID:8132752 PMID:8433729 PMID:8446612 PMID:10525657 More... NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO ORPHA:2248 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO ORPHA:280200 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G HESX1 HESX homeobox 1 IAGP HPO ORPHA:3157 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606 		JBrowse link
G HNF1A HNF1 homeobox A IAGP ClinVar Annotator: match by term: Maternal diabetes ClinVar
HPO		 PMID:9562352 PMID:35299962 ORPHA:324575 NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512 		JBrowse link
G HYMAI hydatidiform mole associated and imprinted IAGP HPO ORPHA:99886 NCBI chr 6:144,004,916...144,008,259
Ensembl chr 6:144,004,916...144,008,262 		JBrowse link
G INTS11 integrator complex subunit 11 IAGP HPO OMIM:620428 NCBI chr 1:1,311,600...1,324,660
Ensembl chr 1:1,311,585...1,324,687 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP HPO OMIM:610582 OMIM:616329 ORPHA:276580 ORPHA:99886 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP HPO ORPHA:563609 ORPHA:563612 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP HPO OMIM:300855 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP HPO ORPHA:2248 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
G NODAL nodal growth differentiation factor IAGP HPO ORPHA:280200 NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951 		JBrowse link
G NUAK2 NUAK family kinase 2 IAGP HPO ORPHA:563609 NCBI chr 1:205,302,063...205,321,745
Ensembl chr 1:205,302,063...205,321,745 		JBrowse link
G OTX2 orthodenticle homeobox 2 IAGP HPO ORPHA:3157 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693 		JBrowse link
G PLAGL1 PLAG1 like zinc finger 1 IAGP HPO ORPHA:99886 NCBI chr 6:143,940,300...144,064,599
Ensembl chr 6:143,940,300...144,064,599 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma IAGP HPO OMIM:604367 ORPHA:79083 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
G PROKR2 prokineticin receptor 2 IAGP HPO ORPHA:3157 NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954 		JBrowse link
G PTCH1 patched 1 IAGP HPO ORPHA:280200 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO ORPHA:280200 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SIX3 SIX homeobox 3 IAGP HPO ORPHA:280200 NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071 		JBrowse link
G SLC12A3 solute carrier family 12 member 3 IAGP HPO ORPHA:358 NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850 		JBrowse link
G SOX2 SRY-box transcription factor 2 IAGP HPO ORPHA:3157 NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436 		JBrowse link
G SOX3 SRY-box transcription factor 3 IAGP HPO ORPHA:3157 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069 		JBrowse link
G SPINK1 serine peptidase inhibitor Kazal type 1 IAGP HPO ORPHA:103918 NCBI chr 5:147,824,582...147,839,196
Ensembl chr 5:147,824,572...147,831,671 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO ORPHA:280200 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G TGIF1 TGFB induced factor homeobox 1 IAGP HPO ORPHA:280200 NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978 		JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 IAGP HPO ORPHA:3027 NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224 		JBrowse link
G VANGL2 VANGL planar cell polarity protein 2 IAGP HPO ORPHA:563609 ORPHA:563612 NCBI chr 1:160,400,564...160,428,670
Ensembl chr 1:160,400,564...160,428,670 		JBrowse link
G ZFP57 ZFP57 zinc finger protein IAGP HPO ORPHA:99886 NCBI chr 6:29,672,392...29,681,152
Ensembl chr 6:29,672,483...29,681,155 		JBrowse link
G ZIC2 Zic family member 2 IAGP HPO ORPHA:280200 NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21564
    Past medical history 206
      Pregnancy history 196
        Maternal diabetes 46
Path 2
Term Annotations click to browse term
  Human phenotype 21564
    Phenotypic abnormality 21554
      Abnormality of metabolism/homeostasis 3682
        Abnormal homeostasis 2301
          Abnormal glucose homeostasis 1175
            Glucose intolerance 770
              Diabetes mellitus 568
                Maternal diabetes 46
paths to the root