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Hypophosphatasia MeSH Descriptor Data 2023


MeSH Heading
Hypophosphatasia
Tree Number(s)
C16.320.565.618.482
C18.452.648.618.482
Unique ID
D007014
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D007014
Annotation
defic of blood phosphatases; do not use /‌congen & do not coord with INFANT, NEWBORN, DISEASES
Scope Note
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)
Public MeSH Note
72
History Note
72(66)
Date Established
1972/01/01
Date of Entry
1999/01/01
Revision Date
2013/07/08
Hypophosphatasia Preferred
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