loading...| Preferred Name | hypophosphatasia | |
| Synonyms |
childhood hypophosphatasia hypophospatasia, childhood hypophosphatasia mild phosphoethanol-aminuria HPP deficiency of alkaline phosphatase phosphoethanolaminuria deficiency of alkaline phosphatase (disorder) [ambiguous] Rathburn disease |
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| Definitions |
Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia). |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0018570 |
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| altLabel |
childhood hypophosphatasia hypophospatasia, childhood hypophosphatasia mild phosphoethanol-aminuria HPP deficiency of alkaline phosphatase phosphoethanolaminuria deficiency of alkaline phosphatase (disorder) [ambiguous] Rathburn disease |
|
| definition |
Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia). |
|
| has_exact_synonym |
HPP deficiency of alkaline phosphatase phosphoethanolaminuria deficiency of alkaline phosphatase (disorder) [ambiguous] Rathburn disease |
|
| has_narrow_synonym |
childhood hypophosphatasia hypophospatasia, childhood hypophosphatasia mild |
|
| has_related_synonym |
phosphoethanol-aminuria |
|
| label |
hypophosphatasia |
|
| prefixIRI |
MONDO:0018570 |
|
| prefLabel |
hypophosphatasia |
|
| textual definition |
Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia). |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0000426 |