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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:umbilical hernia
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Accession:DOID:0060321 term browser browse the term
Definition:A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles. (DO)
Synonyms:exact_synonym: Umbilical Hernias
 primary_id: MESH:D006554
 xref: ICD10CM:Q79.2;   ICD9CM:756.72;   NCI:C98997
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
umbilical 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: Umbilical hernias ClinVar PMID:25741868 PMID:28649782 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 1:116,715,286...116,837,223
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 chr16:66,492,445...66,546,731
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 hernias ClinVar PMID:25741868 NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620
JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
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
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:180500
OMIM
ClinVar
CTD
PMID:8944018 PMID:9685346 PMID:10490637 PMID:10502778 PMID:10644443 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
Smith-Kingsmore Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Smith-Kingsmore syndrome OMIM
ClinVar
PMID:23636326 PMID:24631838 PMID:25741868 PMID:25851998 PMID:26542245 More... NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      gastrointestinal system disease 6237
        intestinal disease 2629
          umbilical hernia 12
            Axenfeld-Rieger syndrome type 1 5
            Omphalocele Exstrophy Imperforate Anus 0
            Omphalocele, Cleft Palate Syndrome Lethal 0
            Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects 0
            Pseudodiastrophic Dysplasia 0
            Shprintzen Omphalocele Syndrome 0
            Smith-Kingsmore Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      Urogenital Diseases 4437
        Female Urogenital Diseases and Pregnancy Complications 2085
          Female Urogenital Diseases 1778
            female reproductive system disease 1774
              prolapse of female genital organ 185
                enterocele 185
                  Abdominal Hernia 22
                    Hernia, Ventral 14
                      umbilical hernia 12
                        Axenfeld-Rieger syndrome type 1 5
                        Omphalocele Exstrophy Imperforate Anus 0
                        Omphalocele, Cleft Palate Syndrome Lethal 0
                        Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects 0
                        Pseudodiastrophic Dysplasia 0
                        Shprintzen Omphalocele Syndrome 0
                        Smith-Kingsmore Syndrome 1
paths to the root