loading...| Preferred Name | Hypophosphatasia | |
| Synonyms |
Rathbun disease Phosphoethanolaminuria HPP |
|
| Definitions |
A rare, genetic metabolic disorder characterized by reduced activity of unfractionated serum alkaline phosphatase (ALP) and various symptoms from life-threatening, severely impaired mineralization at birth to musculo-skeletal pain in adulthood. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_436 |
|
| alternative_term |
Rathbun disease Phosphoethanolaminuria HPP |
|
| definition |
A rare, genetic metabolic disorder characterized by reduced activity of unfractionated serum alkaline phosphatase (ALP) and various symptoms from life-threatening, severely impaired mineralization at birth to musculo-skeletal pain in adulthood. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=436 |
|
| has_age_of_onset |
All ages |
|
| has_inheritance |
Autosomal recessive Autosomal dominant |
|
| hasDbXref |
OMIM:241510 UMLS:C0020630 OMIM:241500 ICD-10:E83.3 ICD-11:5C64.3 OMIM:146300 MedDRA:10049933 MeSH:D007014 |
|
| label |
Hypophosphatasia |
|
| notation |
ORPHA:436 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_436 |
|
| prefLabel |
Hypophosphatasia |
|
| present_in |
China AND has_point_prevalence_average_value : 0.0208 AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown |
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| treeView | ||
| subClassOf |