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Disease Familial Hypophosphatemic Rickets

Name Familial Hypophosphatemic Rickets
Synonyms Generalized Resistance To 1,25 Dihydroxyvitamin D | Generalized Resistance To 1,25-Dihydroxyvitamin D | Hereditary Hypophosphatemic Rickets | Hereditary Vitamin D Resistant Rickets | Hereditary Vitamin D-Resistant Rickets | HPDR | HYP | Hypocalcemic Vitamin D Resistant Rickets | Hypocalcemic Vitamin D-Resistant Rickets | Hypophosphatemia, X Linked | Hypophosphatemia, X-Linked | Hypophosphatemic Rickets, Familial | Hypophosphatemic Rickets, Hereditary | Hypophosphatemic Rickets, X-Linked | Hypophosphatemic Rickets, X Linked Dominant | Hypophosphatemic Rickets, X-Linked Dominant | Hypophosphatemic Rickets, X Linked Recessive | Hypophosphatemic Rickets, X-Linked Recessive | HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS | Rickets, Familial Hypophosphatemic | Rickets, Hereditary Hypophosphatemic | Rickets, Hereditary Vitamin D Resistant | Rickets, Hereditary Vitamin D-Resistant | Rickets, X-Linked Hypophosphatemic | Vitamin D Resistant Rickets | Vitamin D Resistant Rickets, Hereditary | Vitamin D-Resistant Rickets, Hereditary | Vitamin D Resistant Rickets With End Organ Unresponsiveness To 1,25 Dihydroxycholecalciferol | Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol | Vitamin D Resistant Rickets, X Linked | Vitamin D-Resistant Rickets, X-Linked | XLH | XLHR | X Linked Hypophosphatemia | X-Linked Hypophosphatemia | X-Linked Hypophosphatemic Rickets
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.
Categories Genetic disease (inborn) | Metabolic disease | Musculoskeletal disease | Nutrition disorder | Urogenital disease (female) | Urogenital disease (male)
MeSH® ID D053098
OMIM® IDs 300554 | 307800
External Links

Top ↑ Ancestors

1. DiseasesMusculoskeletal Diseases Has associated chemicals Has associated genes Has associated exposure references Bone Diseases Has associated chemicals Has associated genes Has associated exposure references Bone Diseases, Metabolic Has associated chemicals Has associated genes Has associated exposure references Rickets Has associated chemicals Has associated genes Rickets, Hypophosphatemic Has associated chemicals Has associated genes Familial Hypophosphatemic Rickets Has associated chemicals Has associated genes
2. DiseasesMale Urogenital Diseases Has associated chemicals Has associated genes Has associated exposure references Urologic Diseases Has associated chemicals Has associated genes Has associated exposure references Kidney Diseases Has associated chemicals Has associated genes Has associated exposure references Renal Tubular Transport, Inborn Errors Has associated chemicals Has associated genes Hypophosphatemia, Familial Has associated chemicals Has associated genes Familial Hypophosphatemic Rickets Has associated chemicals Has associated genes
3. DiseasesFemale Urogenital Diseases and Pregnancy Complications Has associated chemicals Has associated genes Has associated exposure references Female Urogenital Diseases Has associated chemicals Has associated genes Has associated exposure references Urologic Diseases Has associated chemicals Has associated genes Has associated exposure references Kidney Diseases Has associated chemicals Has associated genes Has associated exposure references Renal Tubular Transport, Inborn Errors Has associated chemicals Has associated genes Hypophosphatemia, Familial Has associated chemicals Has associated genes Familial Hypophosphatemic Rickets Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Metal Metabolism, Inborn Errors Has associated chemicals Has associated genes Hypophosphatemia, Familial Has associated chemicals Has associated genes Familial Hypophosphatemic Rickets Has associated chemicals Has associated genes
5. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Renal Tubular Transport, Inborn Errors Has associated chemicals Has associated genes Hypophosphatemia, Familial Has associated chemicals Has associated genes Familial Hypophosphatemic Rickets Has associated chemicals Has associated genes
6. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Bone Diseases, Metabolic Has associated chemicals Has associated genes Has associated exposure references Rickets Has associated chemicals Has associated genes Rickets, Hypophosphatemic Has associated chemicals Has associated genes Familial Hypophosphatemic Rickets Has associated chemicals Has associated genes
7. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Calcium Metabolism Disorders Has associated chemicals Has associated genes Has associated exposure references Rickets Has associated chemicals Has associated genes Rickets, Hypophosphatemic Has associated chemicals Has associated genes Familial Hypophosphatemic Rickets Has associated chemicals Has associated genes
8. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Metal Metabolism, Inborn Errors Has associated chemicals Has associated genes Hypophosphatemia, Familial Has associated chemicals Has associated genes Familial Hypophosphatemic Rickets Has associated chemicals Has associated genes
9. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Renal Tubular Transport, Inborn Errors Has associated chemicals Has associated genes Hypophosphatemia, Familial Has associated chemicals Has associated genes Familial Hypophosphatemic Rickets Has associated chemicals Has associated genes
10. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Phosphorus Metabolism Disorders Has associated chemicals Has associated genes Hypophosphatemia Has associated chemicals Has associated genes Hypophosphatemia, Familial Has associated chemicals Has associated genes Familial Hypophosphatemic Rickets Has associated chemicals Has associated genes
11. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Phosphorus Metabolism Disorders Has associated chemicals Has associated genes Hypophosphatemia Has associated chemicals Has associated genes Rickets, Hypophosphatemic Has associated chemicals Has associated genes Familial Hypophosphatemic Rickets Has associated chemicals Has associated genes
12. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Nutrition Disorders Has associated chemicals Has associated genes Has associated exposure references Malnutrition Has associated chemicals Has associated genes Has associated exposure references Deficiency Diseases Has associated chemicals Has associated genes Has associated exposure references Avitaminosis Has associated chemicals Has associated genes Has associated exposure references Vitamin D Deficiency Has associated chemicals Has associated genes Has associated exposure references Rickets Has associated chemicals Has associated genes Rickets, Hypophosphatemic Has associated chemicals Has associated genes Familial Hypophosphatemic Rickets Has associated chemicals Has associated genes

Top ↑ Descendants

Familial Hypophosphatemic Rickets Has associated chemicals Has associated genes
  Hypophosphatemic Rickets, Autosomal Dominant Has associated chemicals Has associated genes
  Hypophosphatemic Rickets, Autosomal Recessive, 1 Has associated chemicals Has associated genes
  Hypophosphatemic Rickets, Autosomal Recessive, 2 Has associated chemicals Has associated genes
  Hypophosphatemic Rickets with Hypercalciuria, Hereditary Has associated chemicals Has associated genes
  Vitamin D-Dependent Rickets, Type 2A Has associated chemicals Has associated genes
  Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
  Vitamin D Hydroxylation-Deficient Rickets, Type 1A Has associated chemicals Has associated genes
  Vitamin D Hydroxylation-Deficient Rickets, Type 1B Has associated chemicals Has associated genes