Preferred Name | Hypophosphatemic rickets | |
Synonyms |
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Definitions |
A group of genetic, renal phosphate wasting disorders characterized by hypophosphatemia, rickets, and normal serum levels of calcium. Characteristic clinical features include slow growth/short stature, bone pain and bone deformities. |
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ID |
http://www.orpha.net/ORDO/Orphanet_437 |
|
definition |
A group of genetic, renal phosphate wasting disorders characterized by hypophosphatemia, rickets, and normal serum levels of calcium. Characteristic clinical features include slow growth/short stature, bone pain and bone deformities. |
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definition_citation |
Orphanet |
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expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=437 |
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has_age_of_onset |
All ages |
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has_inheritance |
X-linked dominant Autosomal recessive Autosomal dominant |
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hasDbXref |
MeSH:D063730 MedDRA:10060873 ICD-11:5C63.22 UMLS:C1704375 |
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label |
Hypophosphatemic rickets |
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notation |
Clinical group ORPHA:437 |
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prefixIRI |
ORDO:Orphanet_437 |
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prefLabel |
Hypophosphatemic rickets |
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present_in |
Worldwide AND has_point_prevalence_range : Unknown |
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subClassOf |
http://www.orpha.net/ORDO/Orphanet_289098 http://www.orpha.net/ORDO/Orphanet_93603 |