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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:inguinal hernia
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Accession:DOID:0060320 term browser browse the term
Definition:An abdominal hernia with an external bulge in the GROIN region. It can be classified by the location of herniation. Indirect inguinal hernias occur through the internal inguinal ring. Direct inguinal hernias occur through defects in the ABDOMINAL WALL (transversalis fascia) in Hesselbach's triangle. The former type is commonly seen in children and young adults; the latter in adults.
Synonyms:exact_synonym: Direct Inguinal Hernia;   Direct Inguinal Hernias;   Indirect Inguinal Hernia;   Indirect Inguinal Hernias;   Inguinal Hernias
 primary_id: MESH:D006552;   RDO:0000471
 xref: ICD10CM:K40;   ICD10CM:K40.90;   ICD9CM:550;   NCI:C34690;   NCI:C34691;   NCI:C34692
For additional species annotation, visit the Alliance of Genome Resources.


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inguinal hernia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camta1 calmodulin binding transcription activator 1 ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:30311386 NCBI chr 5:168,138,207...169,017,295
Ensembl chr 5:168,141,372...169,017,295
JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:1301198 PMID:9232191 PMID:11359213 PMID:15146473 PMID:15365998 PMID:20490928 PMID:20506325 PMID:20567906 PMID:24211323 PMID:25218699 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:25741868 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:28492532 PMID:30311386 NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
JBrowse link
G Flnb filamin B ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:30311386 NCBI chr15:18,750,152...18,883,019
Ensembl chr15:18,750,118...18,883,005
JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:21520333 PMID:25741868 PMID:26436962 PMID:28492532 PMID:30311386 NCBI chr 4:56,710,934...56,738,779
Ensembl chr 4:56,711,049...56,738,791
JBrowse link
G Insr insulin receptor ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:30311386 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:30311386 NCBI chr20:44,060,715...44,201,966
Ensembl chr20:44,060,731...44,209,614
JBrowse link
G Lsm1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:25741868 PMID:31010896 NCBI chr16:71,046,475...71,057,883
Ensembl chr16:71,046,475...71,057,883
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:6407320 PMID:8574420 PMID:11135494 PMID:12514365 PMID:18384141 PMID:23810378 PMID:23810379 PMID:23810382 PMID:23980586 PMID:24886349 PMID:25326637 PMID:25741868 PMID:26974159 PMID:27766312 PMID:28492532 PMID:28632845 PMID:30311386 NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:30311386 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:30311386 NCBI chr18:56,081,863...56,115,719
Ensembl chr18:56,082,195...56,115,593
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16885183 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      gastrointestinal system disease 4633
        intestinal disease 1515
          inguinal hernia 15
            Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 0
            Hernia, Double Inguinal 0
            Lambert Syndrome 0
            Microspherophakia with Hernia 0
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      Urogenital Diseases 4157
        Female Urogenital Diseases and Pregnancy Complications 1916
          Female Urogenital Diseases 1612
            female reproductive system disease 1608
              prolapse of female genital organ 193
                enterocele 193
                  Abdominal Hernia 33
                    inguinal hernia 15
                      Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 0
                      Hernia, Double Inguinal 0
                      Lambert Syndrome 0
                      Microspherophakia with Hernia 0
paths to the root