| 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:0000079 | Abnormality of the urinary tract | |
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| HP:0000089 | Renal hypoplasia | |
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| HP:0000092 | Tubular atrophy | |
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| HP:0000097 | Focal segmental glomerulosclerosis | |
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| HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
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| HP:0001562 | Oligohydramnios | |
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| HP:0001903 | Anemia | |
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| HP:0002009 | Potter facies | |
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| HP:0002089 | Pulmonary hypoplasia | |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002149 | Hyperuricemia | "An abnormally high level of uric acid in the blood." [HPO:curators] |
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| HP:0002615 | Hypotension | |
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| HP:0004492 | Widely patent fontanels and sutures | "An abnormally increased width of the cranial sutures of striking degree." [HPO:curators] |
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| HP:0004719 | enlarged, hyperechogenic kidneys | |
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| HP:0005576 | Tubulointerstitial fibrosis | |
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| HP:0008660 | Renotubular dysgenesis | |
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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:0100519 | Anuria | "Absence of urine, clinically classified as below 50ml/day." [HPO:sdoelken] |
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