Application | Comment | Organism |
---|---|---|
medicine | X-linked hypophosphatemia is a dominant disorder of phosphate homeostasis characterized by growth retardation, rachitic and osteomalacic bone disease, hypophosphatemia, and renal defects in phosphate reabsorption and vitamin D metabolism. The gene responsible for XLH is identified by positional cloning and designated PHEX (formerly PEX) to depict a phosphate regulating gene with homology to endopeptidases on the X chromosome | Homo sapiens |
Organism | UniProt | Comment | Textmining |
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Homo sapiens | P78562 | - |
- |