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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:hiatus hernia
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Accession:DOID:12642 term browser browse the term
Definition:STOMACH herniation located at or near the diaphragmatic opening for the ESOPHAGUS, the esophageal hiatus.
Synonyms:exact_synonym: Diaphragmatic - hiatus -hernia;   Esophageal Hernias;   Hiatal Hernias;   Hiatus Hernias;   Paraesophageal Hernia;   Paraesophageal Hernias;   Paraesophageal Hiatal Hernia;   Paraesophageal Hiatal Hernias;   Sliding Esophageal Hernia;   Sliding Esophageal Hernias;   Sliding Hiatal Hernia;   esophageal hernia;   hiatal hernia;   sliding hiatal hernias
 primary_id: MESH:D006551
 alt_id: OMIM:142400;   RDO:0003409
 xref: ICD10CM:K44;   NCI:C98945
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
hiatus hernia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Barx1 BARX homeobox 1 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr17:14,824,721...14,828,196
Ensembl chr17:14,824,734...14,828,329 		JBrowse link
G Fam120a family with sequence similarity 120A ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr17:16,106,101...16,196,054
Ensembl chr17:16,106,137...16,194,478 		JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr17:396,175...417,480
Ensembl chr17:396,180...417,480 		JBrowse link
G Fbp2 fructose-bisphosphatase 2 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr17:372,554...389,918
Ensembl chr17:372,551...389,967 		JBrowse link
G Mfsd14b major facilitator superfamily domain containing 14B ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr17:2,607,777...2,660,902
Ensembl chr17:2,607,777...2,660,902 		JBrowse link
G Mirlet7a1 microRNA let-7a-1 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr17:16,417,853...16,417,946
Ensembl chr17:16,417,855...16,417,954 		JBrowse link
G Mirlet7d microRNA let-7d ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr17:16,419,980...16,420,077
Ensembl chr17:16,419,980...16,420,077 		JBrowse link
G Phf2 PHD finger protein 2 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr17:16,240,458...16,274,626
Ensembl chr17:16,204,427...16,274,624 		JBrowse link
G Ptpdc1 protein tyrosine phosphatase domain containing 1 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr17:16,333,369...16,381,887
Ensembl chr17:16,333,415...16,380,573 		JBrowse link
G Zfp169 zinc finger protein 169 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr17:16,443,324...16,471,329
Ensembl chr17:16,455,026...16,470,842 		JBrowse link
Galloway-Mowat syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lage3 L antigen family, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr  X:156,355,376...156,356,799
Ensembl chr  X:156,355,376...156,356,799 		JBrowse link
G Osgep O-sialoglycoprotein endopeptidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr15:27,842,447...27,849,866
Ensembl chr15:27,842,422...27,849,974 		JBrowse link
G Tp53rk TP53 regulating kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 3:163,552,166...163,555,925
Ensembl chr 3:163,552,166...163,555,596 		JBrowse link
G Tprkb Tp53rk binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 4:117,589,527...117,604,481
Ensembl chr 4:117,780,533...117,785,941
Ensembl chr 4:117,780,533...117,785,941 		JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chr20:10,240,571...10,264,818
Ensembl chr20:10,239,154...10,257,044 		JBrowse link
G Wdr73 WD repeat domain 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25466283 NCBI chr 1:142,711,955...142,720,292
Ensembl chr 1:142,711,789...142,720,257 		JBrowse link
G Zfp592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chr 1:142,833,999...142,870,997
Ensembl chr 1:142,834,157...142,870,995 		JBrowse link
Galloway-Mowat syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eng endoglin ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485 		JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 OMIM
ClinVar		 PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 PMID:25741868 PMID:25873735 PMID:26070982 PMID:26123727 PMID:28492532 PMID:30315938 NCBI chr 1:142,711,955...142,720,292
Ensembl chr 1:142,711,789...142,720,257 		JBrowse link
G Zfp592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1
ClinVar Annotator: match by term: Spinocerebellar ataxia autosomal recessive 5		 ClinVar PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 NCBI chr 1:142,833,999...142,870,997
Ensembl chr 1:142,834,157...142,870,995 		JBrowse link
Galloway-Mowat syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 2, X-LINKED
ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked		 ClinVar
OMIM		 PMID:12693786 PMID:25741868 PMID:28805828 NCBI chr  X:156,355,376...156,356,799
Ensembl chr  X:156,355,376...156,356,799 		JBrowse link
Galloway-Mowat syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 3
ClinVar Annotator: match by term: Galloway-Mowat syndrome 3		 ClinVar
OMIM		 PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 PMID:25741868 PMID:28272532 PMID:28805828 NCBI chr15:27,842,447...27,849,866
Ensembl chr15:27,842,422...27,849,974 		JBrowse link
Galloway-Mowat syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53rk TP53 regulating kinase ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 4
ClinVar Annotator: match by term: Galloway-Mowat syndrome 4		 ClinVar
OMIM		 PMID:25741868 PMID:28805828 NCBI chr 3:163,552,166...163,555,925
Ensembl chr 3:163,552,166...163,555,596 		JBrowse link
Galloway-Mowat syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tprkb Tp53rk binding protein ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 5 ClinVar
OMIM		 PMID:28805828 NCBI chr 4:117,589,527...117,604,481
Ensembl chr 4:117,780,533...117,785,941
Ensembl chr 4:117,780,533...117,785,941 		JBrowse link
Galloway-Mowat Syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 6
ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 6		 OMIM
ClinVar		 PMID:25741868 PMID:26416026 PMID:28617965 PMID:29597095 PMID:30079490 NCBI chr20:10,240,571...10,264,818
Ensembl chr20:10,239,154...10,257,044 		JBrowse link
Galloway-Mowat Syndrome 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 7 OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:30179222 NCBI chr 7:60,781,724...60,825,225
Ensembl chr 7:60,781,729...60,825,242 		JBrowse link
Galloway-Mowat Syndrome 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 8
ClinVar Annotator: match by term: Galloway-Mowat syndrome 8		 OMIM
ClinVar		 PMID:11793129 PMID:30427554 NCBI chr19:56,681,965...56,731,404
Ensembl chr19:56,681,979...56,731,372 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      gastrointestinal system disease 5734
        stomach disease 545
          hiatus hernia 20
            Galloway-Mowat syndrome + 10
            Gastric Volvulus, Intrathoracic 0
            Sucrosuria, Hiatus Hernia and Mental Retardation 0
            displacement of cardia through esophageal hiatus 0
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        peripheral nervous system disease 2421
          neuropathy 2233
            neuromuscular disease 1780
              muscular disease 1191
                diaphragm disease 110
                  Diaphragmatic Hernia 109
                    hiatus hernia 20
                      Galloway-Mowat syndrome + 10
                      Gastric Volvulus, Intrathoracic 0
                      Sucrosuria, Hiatus Hernia and Mental Retardation 0
                      displacement of cardia through esophageal hiatus 0
paths to the root