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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 intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal. (DO)
Synonyms:exact_synonym: Direct Inguinal Hernia;   Direct Inguinal Hernias;   Indirect Inguinal Hernia;   Indirect Inguinal Hernias;   Inguinal Hernias
 primary_id: MESH:D006552
 xref: ICD10CM:K40;   ICD10CM:K40.90;   ICD9CM:550;   NCI:C34690;   NCI:C34691;   NCI:C34692

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
inguinal hernia term browser
Symbol Object Name 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:30004997 PMID:31994175 NCBI chr15:9,838,609...9,863,439
Ensembl chr15:9,837,274...9,863,430 		JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:25741868 NCBI chr12:3,301,643...3,507,300
Ensembl chr12:3,301,175...3,459,607 		JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:25741868 PMID:31792352 NCBI chr14:50,989,553...51,048,149
Ensembl chr14:50,989,795...51,048,708 		JBrowse link
G ELN elastin ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:25741868 PMID:28492532 NCBI chr28:8,999,164...9,048,703 JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:25741868 NCBI chr  X:128,433,462...128,443,126
Ensembl chr  X:128,433,465...128,443,043 		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 chr16:24,550,983...24,836,311
Ensembl chr16:24,550,977...24,836,307 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16885183 NCBI chr15:75,112,903...75,200,263
Ensembl chr15:75,112,561...75,197,711 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15274
    disease of anatomical entity 14909
      gastrointestinal system disease 6375
        intestinal disease 2868
          inguinal hernia 7
            Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 0
            Double Inguinal Hernia 0
            Lambert Syndrome 0
            Microspherophakia with Hernia 0
Path 2
Term Annotations click to browse term
  disease 15274
    disease of anatomical entity 14909
      Urogenital Diseases 4678
        Female Urogenital Diseases and Pregnancy Complications 2323
          Female Urogenital Diseases 1918
            female reproductive system disease 1915
              prolapse of female genital organ 187
                enterocele 187
                  Abdominal Hernia 34
                    inguinal hernia 7
                      Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 0
                      Double Inguinal Hernia 0
                      Lambert Syndrome 0
                      Microspherophakia with Hernia 0
paths to the root