| HP:0000117 | Decreased renal tubular phosphate reabsorption | |
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| HP:0000124 | Renal tubular dysfunction | |
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| HP:0000365 | Hearing loss | |
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| HP:0000682 | Abnormality of dental enamel | "An abnormality of the dental enamel, which is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite." [HPO:curators] |
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| HP:0000897 | Rachitic rosary | |
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| HP:0000944 | Abnormality of the metaphyses | |
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| HP:0001363 | Craniosynostosis | "Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth." [HPO:curators] |
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| HP:0001373 | Joint dislocation | "Displacement or malalignment of joints." [HPO:curators] |
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| HP:0001423 | X-linked dominant inheritance | "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators] |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002148 | Hypophosphatemia | "A lower than normal level of blood phosphate." [HPO:curators] |
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| HP:0002176 | Spinal cord compression | |
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| HP:0002644 | Abnormality of the pelvis | "An abnormality of the bony pelvis (pelvic girdle); which is a ring of bones connecting the vertebral column to the femurs." [HPO:curators] |
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| HP:0002653 | Bone pain | |
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| HP:0002748 | Rickets | |
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| HP:0002749 | Osteomalacia | "Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets." [HPO:curators] |
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| HP:0002757 | Recurrent fractures | "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators] |
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| HP:0002758 | Osteoarthritis | |
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| HP:0002829 | Arthralgia | |
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| HP:0002970 | Genu varum | |
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| HP:0002979 | Bowing of the legs | |
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| HP:0002980 | Femoral bowing | "Bowing (abnormal curvature) of the femur." [HPO:curators] |
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| HP:0002982 | Tibial bowing | "A developmental defect with posteromedial tibial angulation." [HPO:curators] |
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| HP:0003025 | Irregular metaphyses | |
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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:0003165 | Elevated serum parathyroid hormone (PTH) level | |
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| HP:0003416 | Spinal canal stenosis | |
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| HP:0003812 | Phenotypic variability | |
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| HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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| HP:0004912 | hypophosphatemic rickets | |
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| HP:0006285 | Hypomineralization of enamel | |
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| HP:0006432 | Trapezoidal distal femoral condyles | |
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| HP:0008117 | Shortening of the talar neck | |
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| HP:0008144 | Flattening of the talar dome | |
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| HP:0010502 | Fibular bowing | "A developmental defect with posteromedial fibular angulation." [HPO:curators] |
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| HP:0030757 | Tooth abscess | "A pocket of pus located within a region of a tooth." [HPO:probinson] |
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| HP:0100686 | Enthesitis | |
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