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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 HERNIA due to an imperfect closure or weakness of the umbilical ring. It appears as a skin-covered protrusion at the UMBILICUS during crying, coughing, or straining. The hernia generally consists of OMENTUM or SMALL INTESTINE. The vast majority of umbilical hernias are congenital but can be acquired due to severe abdominal distention.
Synonyms:exact_synonym: Umbilical Hernias
 primary_id: MESH:D006554
 alt_id: RDO:0001149
 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 Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:22473653 NCBI chr 1:123,897,341...124,039,263
Ensembl chr 1:123,899,657...124,039,196
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO RGD PMID:21238647 RGD:11567270 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO RGD PMID:21238647 RGD:11567270 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:236,031,988...236,313,858
Ensembl chr 1:236,031,988...236,313,858
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Umbilical hernias ClinVar PMID:25741868 NCBI chr 5:164,720,629...164,747,071
Ensembl chr 5:164,720,587...164,747,083
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 chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 ISS OMIM:180500 MouseDO NCBI chr 5:152,195,359...152,198,813
Ensembl chr 5:152,195,361...152,198,813
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
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, PMID:11301317, PMID:11487566, PMID:12612071, PMID:14623826, PMID:14630904, PMID:15378534, PMID:15728254, PMID:16498627, PMID:18045789, PMID:18723525, PMID:19052653, PMID:20881294, PMID:22569110, PMID:25741868, PMID:26220699, PMID:28492532, PMID:29100920 NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 4:96,659,062...96,810,816
Ensembl chr 4:96,659,084...96,812,263
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:7550332, PMID:7809080, PMID:8660990, PMID:9326330, PMID:11092830, PMID:12974736, PMID:15254238, PMID:15314020, PMID:15467718, PMID:15755954, PMID:15805158, PMID:16647875, PMID:17286265, PMID:18354181, PMID:19854944, PMID:19963289, PMID:20731814, PMID:22023617, PMID:22053105, PMID:22552098, PMID:22654878, PMID:22729223, PMID:23161681, PMID:23209702, PMID:23516405, PMID:23555892, PMID:23934111, PMID:24497577, PMID:24631838, PMID:25473036, PMID:25533962, PMID:25599672, PMID:25741868, PMID:25851998, PMID:26542245, PMID:26619011, PMID:27159400, PMID:27513193, PMID:27753196, PMID:27830187, PMID:28475857, PMID:28492532, PMID:28554332, PMID:28892148, PMID:32581362 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      gastrointestinal system disease 4632
        intestinal disease 1514
          umbilical hernia 11
            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 16023
    disease of anatomical entity 15278
      Urogenital Diseases 4155
        Female Urogenital Diseases and Pregnancy Complications 1915
          Female Urogenital Diseases 1612
            female reproductive system disease 1608
              prolapse of female genital organ 193
                enterocele 193
                  Abdominal Hernia 33
                    Hernia, Ventral 13
                      umbilical hernia 11
                        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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.