HP:0000083 | Renal failure | |
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HP:0000093 | Proteinuria | |
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HP:0000100 | Nephrotic syndrome | |
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HP:0000123 | Nephritis | "The presence of inflammation affecting the kidney." [HPO:curators] |
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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:0000519 | Congenital cataract | "A congenital `cataract` (HP:0000518)." [HPO:probinson] |
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HP:0000545 | Myopia | |
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HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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HP:0000829 | Hypoparathyroidism | |
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HP:0001142 | Lenticonus | |
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HP:0001417 | X-linked inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [HPO:curators] |
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HP:0001423 | X-linked dominant inheritance | "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators] |
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HP:0001425 | Heterogeneous | |
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HP:0001873 | Thrombocytopenia | |
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HP:0002907 | Microscopic hematuria | |
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HP:0003676 | Progressive 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:0006756 | Diffuse leiomyomatosis | |
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HP:0008064 | Ichthyosiform abnormality of the skin | |
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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: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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