Statements (34)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
genetic disorder |
| gptkbp:affects |
gptkb:bone
teeth |
| gptkbp:cause |
gptkb:osteomalacia
gptkb:rickets muscle weakness premature loss of teeth |
| gptkbp:characterizedBy |
impaired bone mineralization
low alkaline phosphatase activity |
| gptkbp:diagnosedBy |
genetic testing
serum alkaline phosphatase measurement |
| gptkbp:firstDescribed |
1948
John C. Rathbun |
| gptkbp:hasOrphanetID |
ORPHA:167
|
| https://www.w3.org/2000/01/rdf-schema#label |
hypophosphatasia
|
| gptkbp:ICD-10_code |
E83.3
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:mutationAssociatedWith |
ALPL gene
|
| gptkbp:OMIM |
146300
|
| gptkbp:prevalence |
rare
|
| gptkbp:subspecies |
adult hypophosphatasia
childhood hypophosphatasia infantile hypophosphatasia odonto-hypophosphatasia perinatal hypophosphatasia |
| gptkbp:symptom |
short stature
fractures bone pain respiratory complications |
| gptkbp:treatment |
gptkb:asfotase_alfa
|
| gptkbp:bfsParent |
gptkb:alkaline_phosphatase
|
| gptkbp:bfsLayer |
6
|