HP:0000007 | Autosomal recessive inheritance | "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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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HP:0000010 | Recurrent urinary tract infections | "Repeated infections of the urinary tract." [HPO:curators] |
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HP:0000020 | Urinary incontinence | "Loss of the ability to control the urinary bladder leading to involuntary urination." [HPO:sdoelken] |
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HP:0000028 | Cryptorchidism | "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators] |
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HP:0000072 | Hydroureter | "The distention of the ureter with urine." [HPO:curators] |
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HP:0000076 | Vesicoureteral reflux | "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:curators] |
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HP:0000083 | Renal failure | |
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HP:0000126 | Hydronephrosis | |
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HP:0000796 | Urethral obstruction | |
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HP:0000805 | Enuresis | "Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible." [HPO:sdoelken] |
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HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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HP:0001959 | Polydipsia | |
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HP:0001999 | Facial dysmorphism | |
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HP:0002019 | Constipation | |
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HP:0002607 | Bowel incontinence | |
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HP:0005346 | Abnormal facial expression | |
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HP:0010481 | Urethral valve | "The presence of an abnormal membrane obstructing the urethera." [HPO:curators] |
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