eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | osteomalacia |
| Comorbidity | C0020630|hypophosphatasia |
| Sentences | 1 |
| PubMedID- 23183786 | Mutations in the tissue-nonspecific alkaline phosphatase (tnap) gene cause hypophosphatasia, a heritable form of rickets and osteomalacia, caused by an arrest in the propagation of hydroxyapatite (ha) crystals onto the collagenous extracellular matrix due to accumulation of extracellular inorganic pyrophosphate (ppi), a physiological tnap substrate and a potent calcification inhibitor. |
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