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Osteopenia
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HP_0000938 |
[Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.] |
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Thinning and bulging of the posterior fossa bones
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HP_0000931 |
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Posterior fossa cyst at the fourth ventricle
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HP_0000933 |
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Periventricular cysts
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HP_0007109 |
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Elevated urinary xanthurenic acid level
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HP_6000121 |
[The amount of xanthurenic acid in the urine, normalized for urine concentration, is above the upper limit of normal.] |
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Chondrocalcinosis
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HP_0000934 |
[Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .] |
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Elevated urinary sulfatide level
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HP_6000120 |
[The amount of sulfatides in the urine, normalized for urine concentration, is above the upper limit of normal. Sulfatides are derived from GalCer via esterification of a sulfate group to 3-hydroxyl of the galactose moiety.] |
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Hockey-stick palmar crease
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HP_6000112 |
[An abnormality of the upper palmar crease whereby the crease widens and ends between the second and third fingers and is said to resemble a hockey stick.] |
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jaw mesenchyme
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UBERON_0034995 |
[Mesenchyme that is part of a developing jaw [Automatically generated definition].] |
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Monoarticular
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HP_6000111 |
[Refers to a phenotypic abnormality that affects a single joint.] |
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hindbrain cortical intermediate zone
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UBERON_0034994 |
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cortical intermediate zone
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UBERON_0004040 |
[The region of the developing mammalian cortex that extends between the ventricular zone and the cortical plate (CP); normally, the IZ is a region of tangential migration of cells, and at midgestation, the lower part of the IZ develops into the subventricular zone.] |
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Elevated urinary 5-hydroxymethyluracil level
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HP_6000114 |
[The amount of 5-hydroxymethyluracil in the urine, normalized for urine concentration, is above the upper limit of normal.] |
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Short diaphyses
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HP_0000941 |
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Elevated urinary succinyladenosine level
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HP_6000113 |
[The amount of succinyladenosine in the urine, normalized for urine concentration, is above the upper limit of normal.] |
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Elevated urinary deoxyuridine level
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HP_6000116 |
[The amount of deoxyuridine in the urine, normalized for urine concentration, is above the upper limit of normal.] |
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Decreased urine creatinine level
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HP_6000115 |
[The amount of creatinine in the urine, normalized for urine concentration, is below the lower limit of normal.] |
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Elevated urinary dihydrouracil level
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HP_6000118 |
[The amount of dihydrouracil in the urine, normalized for urine concentration, is above the upper limit of normal.] |
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obsolete Elevated urinary AICA-riboside level
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HP_6000117 |
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Elevated urinary dihydrothymine level
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HP_6000119 |
[The amount of dihydrothymine in the urine, normalized for urine concentration, is above the upper limit of normal.] |