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:0000127 | Renal salt wasting | |
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HP:0000360 | Tinnitus | "Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation." [Cochrane:ab005233] |
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HP:0000421 | Epistaxis | |
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HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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HP:0000848 | Increased plasma renin | |
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HP:0001278 | Orthostatic hypotension | "A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position." [HPO:curators] |
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HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
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HP:0001508 | Failure to thrive | |
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HP:0001510 | Growth retardation | |
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HP:0001944 | Dehydration | |
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HP:0001954 | Fever, episodic | "Periodic (episodic or recurrent) bouts of fever that do not have an infectious cause." [HPO:curators] |
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HP:0001959 | Polydipsia | |
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HP:0002013 | Vomiting | |
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HP:0002018 | Nausea | |
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HP:0002153 | Hyperkalemia | |
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HP:0002170 | Intracranial hemorrhage | "A hemorrhage (bleeding) occuring within the skull." [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:0002615 | Hypotension | |
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HP:0002900 | Hypokalemia | |
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HP:0002902 | Hyponatremia | |
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HP:0003623 | Onset in neonatal period | |
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HP:0004319 | Decreased aldosterone production | |
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HP:0008221 | Enlarged adrenal glands | |
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HP:0008872 | Feeding problems in infancy | |
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HP:0011410 | Caesarian section | |
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HP:0011739 | Dexamethasone-suppresible primary hyperaldosteronism | "A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone." [DDD:spark, HPO:probinson] |
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HP:0011746 | Secretory adrenocortical adenoma | "An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones." [DDD:spark] |
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HP:0040084 | Abnormal circulating renin | |
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HP:0100602 | Preecplampsia | "Pregnancy-induced hypertension in association with significant amounts of protein in the urine." [HPO:sdoelken] |
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