| 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:0000083 | Renal failure | |
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| HP:0000093 | Proteinuria | |
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| HP:0000099 | Glomerulonephritis | |
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| HP:0000100 | Nephrotic syndrome | |
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| HP:0000121 | Nephrocalcinosis | |
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| HP:0000123 | Nephritis | "The presence of inflammation affecting the kidney." [HPO:curators] |
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| HP:0000365 | Hearing loss | |
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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:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| HP:0000545 | Myopia | |
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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:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| HP:0001134 | Anterior polar cataract | "A `polar cataract` (HP:0010696) that affects the `anterior pole of the lens` (FMA:58897)." [HPO:probinson] |
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| HP:0001142 | Lenticonus | |
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| HP:0001425 | Heterogeneous | |
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| HP:0002148 | Hypophosphatemia | "A lower than normal level of blood phosphate." [HPO:curators] |
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| HP:0002157 | Azotemia | |
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| HP:0003676 | Progressive disorder | |
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| HP:0003680 | Nonprogressive disorder | |
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| HP:0003774 | End stage renal disease | |
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| HP:0004722 | Thickening of the glomerular basement membrane on renal biopsy | |
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| HP:0011501 | Anterior lenticonus | "A conical projection of the anterior surface of the lens, occurring as a developmental anomaly." [DDD:gblack] |
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| HP:0012577 | Thin glomerular basement membrane | "Reduction in thickness of the basal lamina of the glomerulus of the kidney." [HPO:probinson] |
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| HP:0030034 | Diffuse glomerular basement membrane lamellation | "Presence of abnormal additional layers of the basement membrane of the glomerulus." [] |
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| HP:0200020 | Corneal erosions | "Erosions or Abbrasions of the cornea s outermost layer of epithelial cells." [HPO:sdoelken] |
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