| 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:0000083 | Renal failure | |
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| HP:0000121 | Nephrocalcinosis | |
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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:0000787 | Kidney stones | |
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| HP:0000829 | Hypoparathyroidism | |
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| HP:0000934 | Chondrocalcinosis | |
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| HP:0000938 | Osteopenia | "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators] |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| HP:0001281 | Tetany | |
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| HP:0002148 | Hypophosphatemia | "A lower than normal level of blood phosphate." [HPO:curators] |
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| HP:0002150 | Hypercalciuria | |
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| HP:0002199 | Seizures due to hypocalcemia | |
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| HP:0002514 | Cerebral calcification | "The presence of calcification within brain structures." [HPO:curators] |
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| HP:0002897 | Parathyroid adenoma | |
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| HP:0002901 | Hypocalcemia | "A level of blood calcium that is lower than normal." [HPO:curators] |
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| HP:0002905 | Hyperphosphatemia | |
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| HP:0002917 | Hypomagnesemia | |
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| HP:0003072 | Hypercalcemia | "A level of blood calcium that is higher than normal." [HPO:curators] |
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| HP:0003109 | Hyperphosphaturia | "An increased excretion of phosphates in the urine." [HPO:curators] |
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| HP:0003165 | Elevated serum parathyroid hormone (PTH) level | |
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| HP:0003251 | Male infertility | |
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| HP:0006780 | Parathyroid carcinoma | |
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| HP:0008198 | Congenital hypoparathyroidism | |
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| HP:0008200 | Primary hyperparathyroidism | |
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| HP:0008211 | Parathyroid absence | |
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| HP:0008250 | Infantile hypercalcemia | |
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| HP:0011458 | Abdominal symptom | |
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| HP:0040160 | Generalized osteoporosis | |
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