"Hypophosphatasia" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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)
| Descriptor ID |
D007014
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| MeSH Number(s) |
C16.320.565.618.482 C18.452.648.618.482
|
| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Hypophosphatasia".
Below are MeSH descriptors whose meaning is more specific than "Hypophosphatasia".
This graph shows the total number of publications written about "Hypophosphatasia" by people in this website by year, and whether "Hypophosphatasia" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2005 | 1 | 0 | 1 |
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Below are the most recent publications written about "Hypophosphatasia" by people in Profiles.
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Next generation sequencing in endocrine practice. Mol Genet Metab. 2015 Jun-Jul; 115(2-3):61-71.
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Mild hypophosphatasia in utero: bent bones in a family with dental disease. J Ultrasound Med. 2005 May; 24(5):707-9.
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A molecular approach to dominance in hypophosphatasia. Hum Genet. 2001 Jul; 109(1):99-108.
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Management of femoral fractures and pseudofractures in adult hypophosphatasia. J Bone Joint Surg Am. 1986 Sep; 68(7):981-90.
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Adult hypophosphatasia with chondrocalcinosis and arthropathy. Variable penetrance of hypophosphatasemia in a large Oklahoma kindred. Am J Med. 1982 Apr; 72(4):631-41.
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Adult hypophosphatasia. Clinical, laboratory, and genetic investigation of a large kindred with review of the literature. Medicine (Baltimore). 1979 Sep; 58(5):329-47.
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Adult hypophosphatasia dominant inheritance in a large kindred. Trans Assoc Am Physicians. 1978; 91:144-55.