| D007014 |
Hypophosphatasia |
A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed) |
Hypophosphatasias |
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| D007668 |
Kidney |
Body organ that filters blood for the secretion of URINE and that regulates ion concentrations. |
Kidneys |
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| D008875 |
Middle Aged |
An adult aged 45 - 64 years. |
Middle Age |
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| D009123 |
Muscle Hypotonia |
A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching. |
Flaccid Muscle Tone,Hypotonia,Decreased Muscle Tone,Floppy Muscles,Hypomyotonia,Hypotony, Muscle,Muscle Flaccidity,Muscle Tone Atonic,Muscle Tone Poor,Muscular Flaccidity,Muscular Hypotonia,Neonatal Hypotonia,Unilateral Hypotonia,Flaccidity, Muscle,Flaccidity, Muscular,Floppy Muscle,Hypotonia, Muscle,Hypotonia, Muscular,Hypotonia, Neonatal,Hypotonia, Unilateral,Hypotonias, Neonatal,Hypotonias, Unilateral,Muscle Hypotony,Muscle Tone Atonics,Muscle Tone, Decreased,Muscle Tone, Flaccid,Muscle, Floppy,Muscles, Floppy,Muscular Flaccidities,Neonatal Hypotonias,Tone Atonic, Muscle,Tone Poor, Muscle |
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| D010018 |
Osteomalacia |
Disorder caused by an interruption of the mineralization of organic bone matrix leading to bone softening, bone pain, and weakness. It is the adult form of rickets resulting from disruption of VITAMIN D; PHOSPHORUS; or CALCIUM homeostasis. |
Adult Rickets,Rickets, Adult |
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| D010710 |
Phosphates |
Inorganic salts of phosphoric acid. |
Inorganic Phosphate,Phosphates, Inorganic,Inorganic Phosphates,Orthophosphate,Phosphate,Phosphate, Inorganic |
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| D005260 |
Female |
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Females |
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| D005598 |
Fractures, Spontaneous |
Fractures occurring as a result of disease of a bone or from some undiscoverable cause, and not due to trauma. (Dorland, 27th ed) |
Fractures, Pathological,Fracture, Pathologic,Fracture, Pathological,Fractures, Pathologic,Pathological Fracture,Pathological Fractures,Fracture, Spontaneous,Pathologic Fracture,Pathologic Fractures,Spontaneous Fracture,Spontaneous Fractures |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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| D000469 |
Alkaline Phosphatase |
An enzyme that catalyzes the conversion of an orthophosphoric monoester and water to an alcohol and orthophosphate. EC 3.1.3.1. |
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