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Diseases
Hypophosphatemic Rickets, X-Linked Dominant
hypophosphatemic rickets, x-linked dominant
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
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Core Information
- Disease Name
- Hypophosphatemic Rickets, X-Linked Dominant
- Standard Disease Name
- hypophosphatemic rickets, x-linked dominant
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- No data
- OMIM ID
- 307800
- UMLS ID
- C0733682|C0733682|C3536984
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:An X-linked dominant disorder caused by mutations in the PHEX gene. It is characterized by growth retardation, osteomalacia, hypophosphatemia, and defects in the renal reabsorption of phosphorus.|MSH2017_2016_08_12:An X-linked disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phosphate reabsorption and vitamin D metabolism; and growth retardation. This disorder is caused by mutations in PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE.
Related
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Related Targets
target disease8 Targets
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