| 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:0000033 | Ambiguous genitalia, male | |
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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:0000127 | Renal salt wasting | |
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| HP:0000144 | Decreased fertility | |
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| HP:0000151 | Absent uterus | |
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| HP:0000771 | Gynecomastia | |
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| HP:0000823 | Delayed puberty | |
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| HP:0000835 | Adrenal hypoplasia | |
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| HP:0000846 | Adrenal insufficiency | |
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| HP:0000848 | Increased plasma renin | |
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| HP:0000859 | Increased plasma aldosterone | |
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| HP:0000939 | Osteoporosis | "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators] |
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| HP:0000953 | Hyperpigmentation | |
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| HP:0001274 | Agenesis of corpus callosum | "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators] |
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| HP:0001508 | Failure to thrive | |
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| HP:0001622 | Premature birth | |
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| HP:0001941 | Acidosis | |
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| HP:0001944 | Dehydration | |
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| HP:0001998 | Neonatal hypoglycemia | |
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| HP:0002013 | Vomiting | |
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| HP:0002153 | Hyperkalemia | |
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| HP:0002615 | Hypotension | |
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| HP:0002750 | Delayed skeletal maturation | "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
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| HP:0002902 | Hyponatremia | |
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| HP:0003107 | Abnormality of cholesterol metabolism | |
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| HP:0003154 | Elevated plasma ACTH | |
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| HP:0004319 | Decreased aldosterone production | |
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| HP:0007574 | Generalized bronze hyperpigmentation | |
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| HP:0008073 | Low maternal serum estriol | |
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| HP:0008163 | Plasma cortisol low | |
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| HP:0008187 | Absence of secondary sex characteristics | |
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| HP:0008232 | Elevated follicle stimulating hormone | |
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| HP:0008665 | Hypertrophic clitoris | |
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| HP:0008730 | Female external genitalia in males | "The presence of female external genitalia in a person with a male karyotype." [HPO:curators] |
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| HP:0008734 | Decreased testicular size | |
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| HP:0010512 | Adrenal calcification | "Calcification within the adrenal glands. This condition may occur in a wide variety of pathologies, some serious and some with no obvious consequence. Adrenal hemorrhage may be detected as an incidental finding in children in radiographic studies of the abdomen. Etiologies include hemorrhage into the adrenals at or immediately after birth, neuroblastoma, ganglioneuroblastoma, cortical carcinoma, pheochromocytoma, and cysts." [HPO:curators] |
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| HP:0010789 | Abnormality of the Leydig cells | |
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| HP:0011106 | Hypovolemia | "An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood." [HPO:probinson] |
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| HP:0011749 | Adrenocorticotropic hormone excess | "Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex." [DDD:spark] |
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| HP:0011968 | Feeding difficulties | "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
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| HP:0011969 | Elevated luteinizing hormone | "An elevated concentration of luteinizing hormone in the blood." [HPO:probinson] |
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| HP:0012245 | Sex reversal | "Development of the reproductive system is inconsistent with the chromosomal sex." [HPO:probinson, MP:0005652] |
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| HP:0012598 | Abnormal urine potassium concentration | "An abnormal concentration of `potassium(1+)` (CHEBI:29103) in the `urine` (FMA:12274)." [Eurenomics:fschaefer] |
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| HP:0012605 | Hypernatriuria | "An increased concentration of `sodium(1+)` (CHEBI:29101) in the `urine` (FMA:12274)." [Eurenomics:ewuehl] |
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| HP:0012854 | Midshaft hypospadias | "Hypospadias with location of the urethral meatus in the scrotum." [HPO:probinson, pmid:12371222] |
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| HP:0030349 | Decreased circulating androgen level | "A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone." [HPO:probinson] |
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| HP:0030369 | Induced vaginal delivery | "Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own." [HPO:probinson] |
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| HP:0100779 | Urogenital sinus anomaly | "A rare birth defect in women where the urethra and vagina both open into a common channel." [HPO:curators] |
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