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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:Abdominal Hernia
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Accession:DOID:9004681 term browser browse the term
Definition:A protrusion of abdominal structures through the retaining ABDOMINAL WALL. It involves two parts: an opening in the abdominal wall, and a hernia sac consisting of PERITONEUM and abdominal contents. Abdominal hernias include groin hernia (HERNIA, FEMORAL; HERNIA, INGUINAL) and VENTRAL HERNIA.
Synonyms:exact_synonym: Abdominal Hernias
 primary_id: MESH:D046449


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Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpk1 alpha-kinase 1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 2:216,126,939...216,247,180
Ensembl chr 2:216,128,825...216,247,157 		JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923 		JBrowse link
G Ap1ar adaptor-related protein complex 1 associated regulatory protein ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 2:216,276,631...216,309,020
Ensembl chr 2:216,276,631...216,309,013 		JBrowse link
G Fam241a family with sequence similarity 241 member A ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 2:216,344,563...216,375,193
Ensembl chr 2:216,343,822...216,375,242 		JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 ISS OMIM:180500 MouseDO NCBI chr 5:146,192,126...146,195,580
Ensembl chr 5:146,192,126...146,195,521
Ensembl chr16:146,192,126...146,195,521 		JBrowse link
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865 		JBrowse link
G Neurog2 neurogenin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 2:216,092,709...216,095,276
Ensembl chr 2:216,093,363...216,094,154 		JBrowse link
G Pitx2 paired-like homeodomain 2 ISO
ISS		 ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
OMIM:180500		 OMIM
ClinVar
MouseDO		 PMID:8944018 PMID:9536098 PMID:9685346 PMID:10490637 PMID:11301317 More... NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293 		JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301 		JBrowse link
G Tifa TRAF-interacting protein with forkhead-associated domain ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 2:216,257,926...216,267,635
Ensembl chr 2:216,234,774...216,267,841 		JBrowse link
G Zgrf1 zinc finger, GRF-type containing 1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 2:216,012,911...216,075,608
Ensembl chr 2:216,013,005...216,074,750 		JBrowse link
gastroschisis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add1 adducin 1 ISO DNA:SNP: :p.G460W (human) RGD PMID:17051589 RGD:5148000 NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor IEP protein:increased expression:liver, intestine (rat) RGD PMID:23381816 RGD:12904922 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase severity IEP protein:decreased expression:intestine: RGD PMID:15486901 RGD:12910745 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		JBrowse link
G Lrp1 LDL receptor related protein 1 ISS OMIM:230750 MouseDO NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910 		JBrowse link
G Nos2 nitric oxide synthase 2 IEP protein:increased expression:intestine (rat) RGD PMID:21960425 RGD:5508749 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
inguinal hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actl6a actin-like 6A ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:19215055 PMID:25741868 PMID:28649782 PMID:31994175 NCBI chr 2:115,492,374...115,508,401
Ensembl chr 2:115,492,285...115,508,401 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:25741868 NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588 		JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:25741868 NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:10712197 PMID:23656349 PMID:23913538 PMID:25741868 PMID:28492532 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16885183 NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228 		JBrowse link
Smith-Kingsmore Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: MTOR-related condition | ClinVar Annotator: match by term: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | ClinVar Annotator: match by term: Neurodevelopmental disorder, MTOR related | ClinVar Annotator: match by term: Overgrowth syndrome | ClinVar Annotator: match by term: Smith-Kingsmore syndrome OMIM
ClinVar		 PMID:21210909 PMID:22729223 PMID:23322780 PMID:23636326 PMID:24625776 More... NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Overgrowth syndrome ClinVar PMID:25741868 NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631 		JBrowse link
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Overgrowth syndrome ClinVar PMID:25741868 NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065 		JBrowse link
umbilical hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actl6a actin-like 6A ISO ClinVar Annotator: match by term: Umbilical hernia ClinVar PMID:19215055 PMID:25741868 PMID:28649782 PMID:31994175 NCBI chr 2:115,492,374...115,508,401
Ensembl chr 2:115,492,285...115,508,401 		JBrowse link
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:22473653 NCBI chr 1:116,711,559...116,837,269
Ensembl chr 1:116,714,711...116,837,240 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO RGD PMID:21238647 RGD:11567270 NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO RGD PMID:21238647 RGD:11567270 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600 		JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Umbilical hernia ClinVar PMID:25741868 NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620 		JBrowse link
Ventral Hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain treatment IDA RGD PMID:26578432 RGD:11041579 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col3a1 collagen type III alpha 1 chain treatment IDA RGD PMID:26578432 RGD:11041579 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    Pathological Conditions, Signs and Symptoms 13626
      Anatomical Pathological Conditions 2866
        enterocele 192
          Abdominal Hernia 32
            Diverticulosis of Bowel, Hernia, and Retinal Detachment 0
            Femoral Hernia 0
            Ventral Hernia + 22
            gastroschisis + 5
            inguinal hernia + 6
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      Urogenital Diseases 5390
        Female Urogenital Diseases and Pregnancy Complications 2665
          Female Urogenital Diseases 2188
            female reproductive system disease 2185
              prolapse of female genital organ 192
                enterocele 192
                  Abdominal Hernia 32
                    Diverticulosis of Bowel, Hernia, and Retinal Detachment 0
                    Femoral Hernia 0
                    Ventral Hernia + 22
                    gastroschisis + 5
                    inguinal hernia + 6
paths to the root