| 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:0000011 | Neurogenic bladder | |
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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:0000062 | Ambiguous genitalia | |
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| HP:0000073 | Ureteral duplication | "A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder." [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:0000086 | Ectopic kidney | "A developmental defect in which a kidney is located in an abnormal anatomic position." [HPO:curators] |
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| HP:0000104 | Renal agenesis | |
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| HP:0000202 | Cleft lip/palate | |
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| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| HP:0000921 | Missing ribs | |
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| HP:0001287 | Meningitis | |
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| HP:0001315 | Reduced reflexes | |
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| HP:0001387 | Joint stiffness | "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [HPO:curators] |
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| HP:0001762 | Talipes equinovarus | "Also called clubfoot typically has 4 main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus." [HPO:curators] |
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| HP:0002019 | Constipation | |
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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:0002089 | Pulmonary hypoplasia | |
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| HP:0002139 | Arrhinencephaly | |
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| HP:0002308 | Arnold-Chiari malformation | "Arnold-Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow." [HPO:curators] |
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| HP:0002315 | Headache | "Cephalgia, or pain in the head originating from the cerebral vault." [HPO:curators] |
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| HP:0002607 | Bowel incontinence | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0003199 | Decreased muscle mass | |
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| HP:0003418 | Back pain | |
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| HP:0005224 | Rectal abscess | |
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| HP:0005640 | Abnormal vertebral segmentation and fusion | |
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| HP:0007293 | Anterior sacral meningocele | |
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| HP:0008479 | Hypoplastic vertebral bodies | |
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| HP:0008517 | Aplasia/Hypoplasia of the sacrum | |
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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:0009800 | maternal diabetes | "Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes." [HPO:curators] |
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| HP:0011867 | Abnormality of the wing of the ilium | "An anomaly of the `ilium ala` (FMA:42826). This is the large expanded portion of the ilum which bounds the greater pelvis laterally." [HPO:probinson] |
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| HP:0012033 | Sacral lipoma | "Presence of a lipoma in the region of the sacrum." [HPO:probinson] |
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| HP:0025247 | Dermoid cyst | "A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are
slowly progressive and can grow to a size of 1 to 4 cm." [] |
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| HP:0030680 | Abnormality of cardiovascular system morphology | "Any structural anomaly of the heart and great vessels." [] |
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| HP:0100710 | Impulsivity | |
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