| 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:0000107 | Renal cysts | |
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| HP:0000707 | Neurological abnormality | "An abnormality of the central or peripheral nervous system." [HPO:curators] |
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| HP:0001407 | Hepatic cysts | |
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| HP:0001541 | Ascites | |
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| HP:0001626 | Abnormality of the cardiovascular system | "Any abnormality of the heart or vasculature." [HPO:curators] |
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| HP:0001732 | Abnormality of the pancreas | |
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| HP:0002020 | Gastroesophageal reflux | |
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| HP:0002027 | Abdominal pain | |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002239 | Gastrointestinal hemorrhage | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002617 | Aneurysm | |
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| HP:0003155 | Elevated alkaline phosphatase | "Abnormally increased serum levels of `alkaline phosphatase activity` (GO:0004035)." [HPO:probinson] |
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| HP:0003270 | Abdominal distention | "Enlargement or distention of the abdomen, which can be a secondary feature associated with a number of conditions such as bowel obstruction." [HPO:curators] |
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| HP:0003418 | Back pain | |
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| HP:0003573 | Increased total bilirubin | |
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| HP:0003581 | Onset in adulthood | |
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| HP:0005562 | Multiple renal cysts | |
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| HP:0006557 | Polycystic liver disease | |
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| HP:0008872 | Feeding problems in infancy | |
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