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
Accession: DOID:12642
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 .
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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