| 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: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:0000841 | Hyperactive renin-angiotensin system | |
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| HP:0000859 | Increased plasma aldosterone | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001942 | Metabolic acidosis | |
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| HP:0001944 | Dehydration | |
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| HP:0002013 | Vomiting | |
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| HP:0002014 | Diarrhea | |
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| HP:0002110 | Bronchiectasis | |
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| HP:0002153 | Hyperkalemia | |
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| HP:0002205 | Recurrent respiratory infections | |
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| HP:0002615 | Hypotension | |
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| HP:0002902 | Hyponatremia | |
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| HP:0003593 | Early onset | |
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| HP:0004469 | Chronic bronchitis | |
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| HP:0008242 | Pseudohypoaldosteronism | |
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| HP:0008872 | Feeding problems in infancy | |
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| HP:0012236 | Elevated sweat chloride | "An increased concentration of chloride in the sweat." [HPO:probinson] |
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