Preferred Name | Hypophosphatasia | |
Synonyms |
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Definitions |
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. |
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ID |
http://purl.obolibrary.org/obo/NCIT_C26798 |
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ALT_DEFINITION |
An autosomal recessive or dominant disorder caused by mutation(s) in the ALPL gene, encoding the alkaline phosphatase, tissue-nonspecific isozyme. The condition is characterized by absent or diminished alkaline phosphatase activity, resulting in the accumulation of inorganic pyrophosphate, which prevents mineralization of hydroxyapatite. The bone mineralization defects have a broad spectrum of severity: mild forms are characterized only by low serum alkaline phosphatase concentrations and early tooth loss; severe cases may manifest with hypercalcemia, and may result in stillbirth or early death. There are five subtypes identified primarily by the age of onset. |
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code |
C26798 |
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Contributing_Source |
Cellosaurus NICHD |
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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. |
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in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C118467 |
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label |
Hypophosphatasia |
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Legacy Concept Name |
Hypophosphatasia |
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Preferred_Name |
Hypophosphatasia |
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prefixIRI |
NCIT:C26798 |
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prefLabel |
Hypophosphatasia |
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Semantic_Type |
Disease or Syndrome |
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UMLS_CUI |
C0020630 |
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subClassOf |