Human Phenotype Ontology 
Grandparent Node:
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Abnormality of connective tissue (HP:0003549)help
Parent Node:
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Abnormal stomach morphology (HP:0002577)help
Parent Node:
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Hernia (HP:0100790)help
..Starting node
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Hiatus hernia (HP:0002036)help
Term ID: 2036
Name: Hiatus hernia
Synonym: Hiatal hernia; Stomach hernia
Definition: The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus.
Comments:
Reference: HP:0002036
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCongenital diaphragmatic hernia (HP:0000776) help
..expandGenital hernia (HP:0100823) help
..expandHernia of the abdominal wall (HP:0004299) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002036HP:0002036Hiatus hernia0ADAMTS2 CL E G H9509218ORPHA:1901Dermatosparaxis Ehlers-Danlos syndromeHP:0040281 - Very frequent165
HP:0002036HP:0002036Hiatus hernia0ADAMTSL2 CL E G H971914631ORPHA:1901Dermatosparaxis Ehlers-Danlos syndromeHP:0040281 - Very frequent72
HP:0002036HP:0002036Hiatus hernia0ALDH18A1 CL E G H58329722OMIM:601162Spastic paraplegia 9A, autosomal dominant.89
HP:0002036HP:0002036Hiatus hernia0ATAD1 CL E G H8489625903ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent
HP:0002036HP:0002036Hiatus hernia0ATP7A CL E G H538869ORPHA:198Occipital horn syndromeHP:0040282 - Frequent192
HP:0002036HP:0002036Hiatus hernia0ATP7A CL E G H538869OMIM:304150Occipital horn syndrome.192
HP:0002036HP:0002036Hiatus hernia0C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 115
HP:0002036HP:0002036Hiatus hernia0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0002036HP:0002036Hiatus hernia0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.27
HP:0002036HP:0002036Hiatus hernia0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional373
HP:0002036HP:0002036Hiatus hernia0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional660
HP:0002036HP:0002036Hiatus hernia0COL5A1 CL E G H12892209OMIM:619329FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF660
HP:0002036HP:0002036Hiatus hernia0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional325
HP:0002036HP:0002036Hiatus hernia0GLIS3 CL E G H16979228510OMIM:610199Diabetes mellitus, neonatal, with congenital hypothyroidismHP:0040283 - Occasional143
HP:0002036HP:0002036Hiatus hernia0GLRA1 CL E G H27414326ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent63
HP:0002036HP:0002036Hiatus hernia0GLRB CL E G H27434329ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent46
HP:0002036HP:0002036Hiatus hernia0GLRB CL E G H27434329OMIM:614619Hyperekplexia 246
HP:0002036HP:0002036Hiatus hernia0GON7 CL E G H8452020356OMIM:619603GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0002036HP:0002036Hiatus hernia0GPHN CL E G H1024315465ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent18
HP:0002036HP:0002036Hiatus hernia0LAGE3 CL E G H827026058ORPHA:2065Galloway-Mowat syndromeHP:0040282 - Frequent
HP:0002036HP:0002036Hiatus hernia0MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked228
HP:0002036HP:0002036Hiatus hernia0MYH11 CL E G H46297569OMIM:619350VISCERAL MYOPATHY 2; VSCM2418
HP:0002036HP:0002036Hiatus hernia0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0002036HP:0002036Hiatus hernia0NUP107 CL E G H5712229914ORPHA:2065Galloway-Mowat syndromeHP:0040282 - Frequent5
HP:0002036HP:0002036Hiatus hernia0NUP133 CL E G H5574618016ORPHA:2065Galloway-Mowat syndromeHP:0040282 - Frequent1
HP:0002036HP:0002036Hiatus hernia0OSGEP CL E G H5564418028ORPHA:2065Galloway-Mowat syndromeHP:0040282 - Frequent
HP:0002036HP:0002036Hiatus hernia0OSGEP CL E G H5564418028OMIM:617729Galloway-Mowat syndrome 3.
HP:0002036HP:0002036Hiatus hernia0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0002036HP:0002036Hiatus hernia0SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndromeHP:0040283 - Occasional178
HP:0002036HP:0002036Hiatus hernia0SLC2A10 CL E G H8103113444OMIM:208050Arterial tortuosity syndrome.178
HP:0002036HP:0002036Hiatus hernia0SLC6A5 CL E G H915211051ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent81
HP:0002036HP:0002036Hiatus hernia0SLC6A5 CL E G H915211051OMIM:614618Hyperekplexia 381
HP:0002036HP:0002036Hiatus hernia0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040281 - Very frequent241
HP:0002036HP:0002036Hiatus hernia0TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0002036HP:0002036Hiatus hernia0TNXB CL E G H714811976OMIM:606408Ehlers-Danlos syndrome, classic-like.134
HP:0002036HP:0002036Hiatus hernia0TP53RK CL E G H11285816197ORPHA:2065Galloway-Mowat syndromeHP:0040282 - Frequent
HP:0002036HP:0002036Hiatus hernia0TPRKB CL E G H5100224259ORPHA:2065Galloway-Mowat syndromeHP:0040282 - Frequent
HP:0002036HP:0002036Hiatus hernia0WDR4 CL E G H1078512756ORPHA:2065Galloway-Mowat syndromeHP:0040282 - Frequent
HP:0002036HP:0002036Hiatus hernia0WDR73 CL E G H8494225928ORPHA:2065Galloway-Mowat syndromeHP:0040282 - Frequent14
HP:0002036HP:0002036Hiatus hernia0WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 1.14
HP:0002036HP:0002036Hiatus hernia0ZBTB7A CL E G H5134118078OMIM:619769MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0002036HP:0002036Hiatus hernia0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS


Genes (35) :ADAMTS2 ADAMTSL2 ALDH18A1 ATAD1 ATP7A C1R CAMTA1 CHST14 COL1A1 COL5A1 COL5A2 GLIS3 GLRA1 GLRB GON7 GPHN LAGE3 MED12 MYH11 NIPBL NUP107 NUP133 OSGEP PORCN SLC2A10 SLC6A5 TCF4 TGFB3 TNXB TP53RK TPRKB WDR4 WDR73 ZBTB7A ZNF699

Diseases (28) :ORPHA:1901 OMIM:601162 ORPHA:3197 ORPHA:198 OMIM:304150 OMIM:130080 OMIM:614756 OMIM:601776 ORPHA:287 OMIM:619329 OMIM:610199 OMIM:614619 OMIM:619603 ORPHA:2065 OMIM:300895 OMIM:619350 OMIM:122470 OMIM:617729 OMIM:305600 ORPHA:3342 OMIM:208050 OMIM:614618 ORPHA:2896 OMIM:615582 OMIM:606408 OMIM:251300 OMIM:619769 OMIM:619488
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.