| 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:0000083 | Renal failure | |
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| HP:0000103 | Polyuria | |
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| HP:0000127 | Renal salt wasting | |
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| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| HP:0000859 | Increased plasma aldosterone | |
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| HP:0000969 | Edema | "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability." [HPO:curators] |
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| HP:0001249 | Mental retardation | |
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| HP:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
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| HP:0001265 | Hyporeflexia | |
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| HP:0001270 | Motor retardation | |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001425 | Heterogeneous | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001561 | Polyhydramnios | |
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| HP:0001563 | Fetal polyuria | |
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| HP:0001622 | Premature birth | |
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| HP:0001789 | Hydrops fetalis | |
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| HP:0002900 | Hypokalemia | |
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| HP:0002902 | Hyponatremia | |
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| HP:0002914 | Increased urinary chloride | |
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| HP:0003081 | Increased urinary potassium | |
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| HP:0003113 | Hypochloremia | |
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| HP:0003577 | Onset at birth | |
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| HP:0004737 | global glomerulosclerosis | |
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| HP:0004909 | hypokalemic hypochloremic metabolic alkalosis | |
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| HP:0005565 | Absent/poor corticomedullary differentiation | |
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| HP:0005576 | Tubulointerstitial fibrosis | |
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| HP:0012213 | Decreased glomerular filtration rate | "An abnormal reduction in the volume of water filtered out of plasma through glomerular capillary walls into Bowman s capsules per unit of time." [HP:probinson] |
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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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