Human Phenotype Ontology 
Grandparent Node:
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Abnormality of connective tissue (HP:0003549)help
Parent Node:
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Hernia (HP:0100790)help
..Starting node
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Genital hernia (HP:0100823)help
Term ID: 100823
Name: Genital hernia
Synonym:
Definition:
Comments:
Reference: HP:0100823
Genes and Diseases:
 
       Child Nodes:
........expandUterine prolapse (HP:0000139) help
........expandVaginal hernia (HP:0100672) help
................... HP:0100645 Cystocele
................... HP:0100821 Urethrocele
................... HP:0100822 Rectocele

 Sister Nodes: 
..expandCongenital diaphragmatic hernia (HP:0000776) help
..expandHernia of the abdominal wall (HP:0004299) help
..expandHiatus hernia (HP:0002036) 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:0100823HP:0100823Genital hernia0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndrome373
HP:0100823HP:0100823Genital hernia0COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0100823HP:0100823Genital hernia0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0100823HP:0100823Genital hernia0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndrome660
HP:0100823HP:0100823Genital hernia0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndrome325
HP:0100823HP:0100823Genital hernia0ELN CL E G H20063327OMIM:123700Cutis laxa, autosomal dominant 1172
HP:0100823HP:0100823Genital hernia0RPS6KA3 CL E G H619710432OMIM:303600Coffin-Lowry syndrome65
HP:0100823HP:0100823Genital hernia0SMAD3 CL E G H40886769ORPHA:284984Aneurysm-osteoarthritis syndrome260
HP:0100823HP:0100823Genital hernia0SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0100823HP:0000139Uterine prolapse1COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional373
HP:0100823HP:0000139Uterine prolapse1COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type.749
HP:0100823HP:0100672Vaginal hernia1COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0100823HP:0100672Vaginal hernia1COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0100823HP:0000139Uterine prolapse1COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040283 - Occasional749
HP:0100823HP:0000139Uterine prolapse1COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional660
HP:0100823HP:0000139Uterine prolapse1COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional325
HP:0100823HP:0000139Uterine prolapse1ELN CL E G H20063327OMIM:123700Cutis laxa, autosomal dominant 1172
HP:0100823HP:0000139Uterine prolapse1RPS6KA3 CL E G H619710432OMIM:303600Coffin-Lowry syndrome.65
HP:0100823HP:0000139Uterine prolapse1SMAD3 CL E G H40886769ORPHA:284984Aneurysm-osteoarthritis syndromeHP:0040282 - Frequent260
HP:0100823HP:0000139Uterine prolapse1SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0100823HP:0100672Vaginal hernia1SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0100823HP:0100822Rectocele2 CL E G H
HP:0100823HP:0100821Urethrocele2 CL E G H
HP:0100823HP:0100645Cystocele2COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type.749
HP:0100823HP:0100645Cystocele2COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040283 - Occasional749
HP:0100823HP:0100645Cystocele2SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260


Genes (7) :COL1A1 COL3A1 COL5A1 COL5A2 ELN RPS6KA3 SMAD3

Diseases (7) :ORPHA:287 OMIM:130050 ORPHA:286 OMIM:123700 OMIM:303600 ORPHA:284984 OMIM:613795
 

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