loading...| Preferred Name | Hypophosphatemic rickets, X-linked dominant | |
| Synonyms |
XLHR |
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| Definitions |
(XLHR) - A disorder characterized by impaired phosphate uptake in the kidney, which is likely to be caused by abnormal regulation of sodium phosphate cotransport in the proximal tubules. Clinical manifestations include skeletal deformities, growth failure, craniosynostosis, paravertebral calcifications, pseudofractures in lower extremities, and muscular hypotonia with onset in early childhood. X-linked hypophosphatemic rickets is the most common form of hypophosphatemia with an incidence of 1 in 20000. |
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| ID |
http://identifiers.org/omim/307800 |
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| altLabel |
XLHR |
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| definition |
(XLHR) - A disorder characterized by impaired phosphate uptake in the kidney, which is likely to be caused by abnormal regulation of sodium phosphate cotransport in the proximal tubules. Clinical manifestations include skeletal deformities, growth failure, craniosynostosis, paravertebral calcifications, pseudofractures in lower extremities, and muscular hypotonia with onset in early childhood. X-linked hypophosphatemic rickets is the most common form of hypophosphatemia with an incidence of 1 in 20000. |
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| id |
OMIM:307800 |
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| notation |
OMIM:307800 |
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| prefLabel |
Hypophosphatemic rickets, X-linked dominant |
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| subClassOf |