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... > Urogenital Diseases > Female Urogenital Diseases and Pregnancy Complications > Female Urogenital Diseases > Urologic Diseases > Kidney Diseases > Renal Tubular Transport, Inborn Errors > Hypophosphatemia, Familial > Familial Hypophosphatemic Rickets
... > Urogenital Diseases > Male Urogenital Diseases > Urologic Diseases > Kidney Diseases > Renal Tubular Transport, Inborn Errors > Hypophosphatemia, Familial > Familial Hypophosphatemic Rickets
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Renal Tubular Transport, Inborn Errors > Hypophosphatemia, Familial > Familial Hypophosphatemic Rickets
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Renal Tubular Transport, Inborn Errors > Hypophosphatemia, Familial > Familial Hypophosphatemic Rickets
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Phosphorus Metabolism Disorders > Hypophosphatemia > Hypophosphatemia, Familial > Familial Hypophosphatemic Rickets
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Metal Metabolism, Inborn Errors > Hypophosphatemia, Familial > Familial Hypophosphatemic Rickets
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Metal Metabolism, Inborn Errors > Hypophosphatemia, Familial > Familial Hypophosphatemic Rickets
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Phosphorus Metabolism Disorders > Hypophosphatemia > Rickets, Hypophosphatemic > Familial Hypophosphatemic Rickets
... > Nutritional and Metabolic Diseases > Nutrition Disorders > Malnutrition > Deficiency Diseases > Avitaminosis > Vitamin D Deficiency > Rickets > Rickets, Hypophosphatemic > Familial Hypophosphatemic Rickets
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Calcium Metabolism Disorders > Rickets > Rickets, Hypophosphatemic > Familial Hypophosphatemic Rickets
... > Musculoskeletal Diseases > Bone Diseases > Bone Diseases, Metabolic > Rickets > Rickets, Hypophosphatemic > Familial Hypophosphatemic Rickets
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Bone Diseases, Metabolic > Rickets > Rickets, Hypophosphatemic > Familial Hypophosphatemic Rickets

Preferred term

Familial Hypophosphatemic Rickets  

Type

  • mesh:Descriptor

Definition

  • A hereditary disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phosphate reabsorption and vitamin D metabolism; and growth retardation. Autosomal and X-linked dominant and recessive variants have been reported. An X-linked recessive disorder associated with mutations in CLCN5, CHLORIDE CHANNEL 5. 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.

Broader concept

Entry terms

  • Generalized Resistance To 1,25-Dihydroxyvitamin D
  • Hereditary Hypophosphatemic Rickets
  • Hereditary Vitamin D-Resistant Rickets
  • Hypocalcemic Vitamin D-Resistant Rickets
  • Rickets, Hereditary Vitamin D-Resistant
  • Vitamin D-Resistant Rickets, Hereditary
  • Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol

Allowable Qualifier(s)

In other languages

URI

http://data.loterre.fr/ark:/67375/JVR-LS30JRWF-J

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