| 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:0000010 | Recurrent urinary tract infections | "Repeated infections of the urinary tract." [HPO:curators] |
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| HP:0000103 | Polyuria | |
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| HP:0000121 | Nephrocalcinosis | |
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| HP:0000483 | Astigmatism | |
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| HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
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| HP:0000540 | Hypermetropia | |
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| HP:0000545 | Myopia | |
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| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| HP:0000787 | Kidney stones | |
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| HP:0000790 | Hematuria | "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators] |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| HP:0001281 | Tetany | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001947 | Renal tubular acidosis | |
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| HP:0001959 | Polydipsia | |
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| HP:0002027 | Abdominal pain | |
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| HP:0002149 | Hyperuricemia | "An abnormally high level of uric acid in the blood." [HPO:curators] |
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| HP:0002150 | Hypercalciuria | |
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| HP:0002917 | Hypomagnesemia | |
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| HP:0003621 | Juvenile onset | |
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| HP:0005567 | Renal magnesium wasting | |
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| HP:0008872 | Feeding problems in infancy | |
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| HP:0012405 | Hypocitraturia | "A lower than normal concentration of `citrate(3-)` (CHEBI:16947) in the urine." [HPO:probinson] |
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| HP:0012608 | Hypermagnesiuria | "An increased concentration of magnesium the `urine` (FMA:12274)." [Eurenomics:fschaefer] |
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| HP:0012622 | Chronic kidney disease | "Functional anomaly of the kidney persisting for at least three months." [Eurenomics:ewuehl] |
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| HP:0012637 | Renal calcium wasting | "High urine calcium in the presence of hypocalcemia." [HPO:probinson] |
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