| 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:0000010 | Recurrent urinary tract infections | "Repeated infections of the urinary tract." [HPO:curators] |
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| HP:0000083 | Renal failure | |
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| HP:0000121 | Nephrocalcinosis | |
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| HP:0000164 | Abnormality of the teeth | "Any abnormality of the primary (deciduous) or permanent teeth." [HPO:curators] |
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| HP:0000488 | Retinopathy | |
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| HP:0000648 | Optic atrophy | |
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| HP:0000787 | Kidney stones | |
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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:0000805 | Enuresis | "Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible." [HPO:sdoelken] |
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| HP:0000924 | Abnormality of the musculoskeletal system | "An abnormality of the musculoskeletal system including one or more abnormalities affecting bones, muscles, cartilage, tendons, ligaments, joints, and other connective tissue." [HPO:curators] |
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| HP:0000965 | Cutis marmorata | |
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| HP:0001063 | Acrocyanosis | |
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| HP:0001138 | Optic neuropathy | |
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| HP:0001297 | Stroke | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001678 | Atrioventricular block | |
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| HP:0001903 | Anemia | |
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| HP:0001942 | Metabolic acidosis | |
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| HP:0002621 | Atherosclerosis | "A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow." [HPO:curators] |
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| HP:0002653 | Bone pain | |
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| HP:0002756 | Pathologic fracture | "A pathologic fracture occurs when a bone breaks in an area that is weakened secondary to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone." [HPO:curators] |
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| HP:0003159 | Hyperoxaluria | |
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| HP:0003761 | Calcinosis | "Formation of calcium deposits in any soft tissue." [HPO:curators] |
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| HP:0003774 | End stage renal disease | |
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| HP:0004417 | Intermittent claudication | |
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| HP:0004950 | Peripheral arterial disease | |
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| HP:0008672 | Calcium oxalate nephrolithiasis | |
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| HP:0009830 | Peripheral neuropathy | "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [HPO:curators] |
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| HP:0011001 | Increased bone mineral density | "An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often refered to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones." [HPO:curators] |
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| HP:0011021 | Abnormality of circulating enzyme level | |
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| HP:0012213 | Decreased glomerular filtration rate | "An abnormal reduction in the volume of water filtered out of plasma through glomerular capillary walls into Bowman s capsules per unit of time." [HP:probinson] |
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| HP:0025324 | Arterial occlusion | "Blockage of blood flow through an artery." [] |
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| HP:0030507 | Retinal crystals | |
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| HP:0030880 | Raynaud phenomenon | |
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| HP:0100518 | Dysuria | "Painful or difficult `urination` (GO:0060073)." [HPO:probinson] |
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| HP:0100758 | Gangrene | "A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis)." [ISBN:9780781770873] |
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