| 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:0000062 | Ambiguous genitalia | |
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| HP:0000739 | Anxiety | |
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| HP:0000789 | Infertility | |
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| HP:0000798 | Oligospermia | |
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| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| HP:0000826 | Precocious puberty | "The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys." [HPO:curators] |
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| HP:0000858 | Menstrual irregularities | |
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| HP:0000876 | Oligomenorrhea | |
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| HP:0001007 | Hirsutism | "Abnormally increased hair growth." [HPO:curators] |
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| HP:0001061 | Acne | |
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| HP:0001297 | Stroke | |
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| HP:0001943 | Hypoglycemia | "A lower than normal level of blood glucose." [HPO:curators] |
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| HP:0002292 | Frontal balding (male pattern baldness) | |
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| HP:0002900 | Hypokalemia | |
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| HP:0003118 | Increased serum cortisol | |
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| HP:0003154 | Elevated plasma ACTH | |
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| HP:0004319 | Decreased aldosterone production | |
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| HP:0008221 | Enlarged adrenal glands | |
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| HP:0010458 | Female pseudohermaphroditism | "Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized." [HPO:curators] |
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| HP:0012030 | Increased urinary cortisol level | "Abnormally increased concentration of `cortisol` (CHEBI:17650) in the urine." [HPO:probinson] |
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| HP:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
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| HP:0030087 | Abnormal testosterone level | "An anomalous concentration of testosterone in the blood." [] |
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| HP:0200114 | Metabolic alkalosis | |
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