- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: IEA. (OMIM:600057)
- Unilateral renal agenesis (HP:0000122): A unilateral form of agenesis of the kidney. Evidence: IEA. (OMIM:600057)
- Hydroureter (HP:0000072): The distention of the ureter with urine. Evidence: IEA. (OMIM:600057)
- Horseshoe kidney (HP:0000085): A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline. Evidence: IEA. (OMIM:600057)
- Bladder exstrophy (HP:0002836): Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall. Evidence: IEA. (OMIM:600057)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:600057)
- Epispadias (HP:0000039): Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias. Evidence: IEA. (OMIM:600057)
- Bifid clitoris (HP:0030911): Two clitorides located side by side. Evidence: TAS. (OMIM:600057)
- Anteriorly placed anus (HP:0001545): Anterior malposition of the anus. Evidence: IEA. (OMIM:600057)
- Abnormal pelvic girdle bone morphology (HP:0002644): An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. Evidence: IEA. (OMIM:600057)
These phenotypes are associated with the disease bladder exstrophy-epispadias-cloacal exstrophy complex (OMIM:600057).