"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
|
| 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".
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Below are the most recent publications written about "Hypophosphatasia" by people in Profiles.