| HP:0000006 | Autosomal dominant 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 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." [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:0000011 | Neurogenic bladder | |
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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:0000037 | Male pseudohermaphroditism | "Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes." [HPO:curators] |
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| HP:0000047 | Hypospadias | "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators] |
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| HP:0000048 | Bifid scrotum | "Separation of the two halves of the scrotum, whereby commonly the 2 halves of the scrotum meet above the penis." [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:0000085 | Horseshoe kidney | |
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| HP:0000143 | Rectovaginal fistula | "The presence of a fistula between the rectum and the vagina." [HPO:curators] |
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| HP:0000813 | Bicornuate uterus | |
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| HP:0001153 | Septate vagina | "The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases." [HPO:curators] |
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| HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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| HP:0002023 | Anal atresia | "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators] |
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| HP:0002025 | Anal stenosis | "Abnormal narrowing of the anal opening." [HPO:curators] |
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| HP:0002144 | Tethered cord | "During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord." [HPO:curators] |
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| HP:0002242 | Abnormality of the intestines | |
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| HP:0003270 | Abdominal distention | "Enlargement or distention of the abdomen, which can be a secondary feature associated with a number of conditions such as bowel obstruction." [HPO:curators] |
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| HP:0003829 | Incomplete penetrance | |
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| HP:0004796 | Gastrointestinal obstruction | |
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| HP:0007293 | Anterior sacral meningocele | |
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| HP:0008517 | Aplasia/Hypoplasia of the sacrum | |
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| HP:0008736 | Hypoplasia of penis | |
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| HP:0009789 | Perianal abscess | "The presence of an abscess located around the anus." [HPO:curators] |
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| HP:0009790 | Hemisacrum (S2-S5) | "A hemisacral defect involving the sacral vertebrae S2 to S5." [HPO:curators] |
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| HP:0009791 | Bifid sacrum | "Presence of a cleft sacrum." [HPO:curators] |
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| HP:0009793 | Presacral teratoma | "Presence of a teratoma anterior to the sacrum." [HPO:curators] |
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| HP:0010447 | Anal fistula | "An abnormal connection between the epithelialised surface of the anal canal and the perianal skin." [HPO:curators] |
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| HP:0012450 | Chronic constipation | "Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation." [ORCID:0000-0001-5208-3432] |
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| HP:0030736 | Sacrococcygeal teratoma | "A teratoma arising in the sacro-coccygeal region." [] {comment="UToronto:chum"} |
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| HP:0100026 | Arteriovenous malformations | |
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| HP:0100559 | Lower limb asymmetry | |
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