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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


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: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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      gastrointestinal system disease 7050
        intestinal disease 3073
          inguinal hernia 6
            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 21128
    disease of anatomical entity 18211
      Urogenital Diseases 5218
        Female Urogenital Diseases and Pregnancy Complications 2432
          Female Urogenital Diseases 1981
            female reproductive system disease 1978
              prolapse of female genital organ 191
                enterocele 191
                  Abdominal Hernia 33
                    inguinal hernia 6
                      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