| 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:0000079 | Abnormality of the urinary tract | |
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| HP:0000093 | Proteinuria | |
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| HP:0000123 | Nephritis | "The presence of inflammation affecting the kidney." [HPO:curators] |
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| HP:0000132 | Menorrhagia | |
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| HP:0000408 | Hearing loss, sensorineural, progressive | |
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| HP:0000421 | Epistaxis | |
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| HP:0000478 | Abnormality of the eyes | "Any abnormality of the `eyes` (FMA:54448), including location, spacing, and intraocular abnormalities." [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:0000519 | Congenital cataract | "A congenital `cataract` (HP:0000518)." [HPO:probinson] |
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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:0000978 | Ecchymoses | |
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| HP:0001658 | Myocardial infarction | |
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| HP:0001757 | High-tone sensorineural deafness | |
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| HP:0001873 | Thrombocytopenia | |
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| HP:0001902 | Giant platelets | |
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| HP:0001977 | Thrombosis | |
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| HP:0002239 | Gastrointestinal hemorrhage | |
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| HP:0002907 | Microscopic hematuria | |
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| HP:0003010 | Prolonged bleeding time | |
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| HP:0003621 | Juvenile onset | |
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| HP:0003774 | End stage renal disease | |
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| HP:0005101 | High-frequency hearing loss | |
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| HP:0008264 | Leukocyte granulation abnormality | |
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| HP:0008619 | Hearing loss, sensorineural, bilateral | |
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| HP:0040185 | Macrothrombocytopenia | |
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| HP:0040235 | Leukocyte inclusion bodies | "The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes." [] |
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