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An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Hypophosphatasia
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Hypophosphatasia
UMLS_CUI
  • C0020630
Contributing_Source
  • NICHD
ALT_DEFINITION
  • 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)MSH2003_2003_05_12
Legacy_Concept_Name
  • Hypophosphatasia
FULL_SYN
  • HypophosphatasiaPTNCI
  • HypophosphatasiaPTNICHD
DEFINITION
  • A rare, serious metabolic disorder caused by mutations in the gene encoding tissue non-specific alkaline phosphatase (TNSALP) activity. It is characterized by low activity of TNSALP in the serum. The signs and symptoms vary significantly and include death in utero, failure to thrive, premature loss of deciduous teeth, early loss of the adult dentition, hypercalcemia, osteomalacia, skeletal defects, renal stones, and movement disorders.NCI
code
  • C26798
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