| 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:0000529 | Progressive visual loss | |
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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:0002718 | Recurrent bacterial infections | |
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| HP:0003621 | Juvenile onset | |
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| HP:0003812 | Phenotypic variability | |
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| HP:0004722 | Thickening of the glomerular basement membrane on renal biopsy | |
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| HP:0004746 | membranoproliferative glomerulonephritis type ii | |
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| HP:0005369 | Decreased serum complement factor H | |
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| HP:0005389 | Depletion of components of the alternative complement pathway | |
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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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