Familial Hypophosphatemic Rickets
"Familial Hypophosphatemic Rickets" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
Descriptor ID |
D053098
|
MeSH Number(s) |
C05.116.198.816.875.500 C12.777.419.815.647.500 C13.351.968.419.815.647.500 C16.320.565.618.544.500 C16.320.565.861.647.500 C18.452.104.816.875.500 C18.452.174.845.875.500 C18.452.648.618.544.500 C18.452.648.861.647.500 C18.452.750.400.500.500 C18.452.750.400.750.500 C18.654.521.500.133.770.734.875.500
|
Concept/Terms |
Familial Hypophosphatemic Rickets- Familial Hypophosphatemic Rickets
- Hypophosphatemic Rickets, Familial
- Rickets, Familial Hypophosphatemic
- Hypocalcemic Vitamin D-Resistant Rickets
- Hypocalcemic Vitamin D Resistant Rickets
- Rickets, Hereditary Vitamin D-Resistant
- Rickets, Hereditary Vitamin D Resistant
- 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
- Vitamin D-Resistant Rickets, Hereditary
- Vitamin D Resistant Rickets, Hereditary
- Hereditary Vitamin D-Resistant Rickets
- Hereditary Vitamin D Resistant Rickets
- Hereditary Hypophosphatemic Rickets
- Hypophosphatemic Rickets, Hereditary
- Rickets, Hereditary Hypophosphatemic
- Generalized Resistance To 1,25-Dihydroxyvitamin D
- Generalized Resistance To 1,25 Dihydroxyvitamin D
Rickets, X-Linked Hypophosphatemic- Rickets, X-Linked Hypophosphatemic
- Hypophosphatemic Rickets, X-Linked
- X-Linked Hypophosphatemic Rickets
- Hypophosphatemia, X-Linked
- Hypophosphatemia, X Linked
- X-Linked Hypophosphatemia
- X Linked Hypophosphatemia
|
Below are MeSH descriptors whose meaning is more general than "Familial Hypophosphatemic Rickets".
- Diseases [C]
- Musculoskeletal Diseases [C05]
- Bone Diseases [C05.116]
- Bone Diseases, Metabolic [C05.116.198]
- Rickets [C05.116.198.816]
- Rickets, Hypophosphatemic [C05.116.198.816.875]
- Familial Hypophosphatemic Rickets [C05.116.198.816.875.500]
- Male Urogenital Diseases [C12]
- Urologic Diseases [C12.777]
- Kidney Diseases [C12.777.419]
- Renal Tubular Transport, Inborn Errors [C12.777.419.815]
- Hypophosphatemia, Familial [C12.777.419.815.647]
- Familial Hypophosphatemic Rickets [C12.777.419.815.647.500]
- Female Urogenital Diseases and Pregnancy Complications [C13]
- Female Urogenital Diseases [C13.351]
- Urologic Diseases [C13.351.968]
- Kidney Diseases [C13.351.968.419]
- Renal Tubular Transport, Inborn Errors [C13.351.968.419.815]
- Hypophosphatemia, Familial [C13.351.968.419.815.647]
- Familial Hypophosphatemic Rickets [C13.351.968.419.815.647.500]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Metal Metabolism, Inborn Errors [C16.320.565.618]
- Hypophosphatemia, Familial [C16.320.565.618.544]
- Familial Hypophosphatemic Rickets [C16.320.565.618.544.500]
- Renal Tubular Transport, Inborn Errors [C16.320.565.861]
- Hypophosphatemia, Familial [C16.320.565.861.647]
- Familial Hypophosphatemic Rickets [C16.320.565.861.647.500]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Bone Diseases, Metabolic [C18.452.104]
- Rickets [C18.452.104.816]
- Rickets, Hypophosphatemic [C18.452.104.816.875]
- Familial Hypophosphatemic Rickets [C18.452.104.816.875.500]
- Calcium Metabolism Disorders [C18.452.174]
- Rickets [C18.452.174.845]
- Rickets, Hypophosphatemic [C18.452.174.845.875]
- Familial Hypophosphatemic Rickets [C18.452.174.845.875.500]
- Metabolism, Inborn Errors [C18.452.648]
- Metal Metabolism, Inborn Errors [C18.452.648.618]
- Hypophosphatemia, Familial [C18.452.648.618.544]
- Familial Hypophosphatemic Rickets [C18.452.648.618.544.500]
- Renal Tubular Transport, Inborn Errors [C18.452.648.861]
- Hypophosphatemia, Familial [C18.452.648.861.647]
- Familial Hypophosphatemic Rickets [C18.452.648.861.647.500]
- Phosphorus Metabolism Disorders [C18.452.750]
- Hypophosphatemia [C18.452.750.400]
- Hypophosphatemia, Familial [C18.452.750.400.500]
- Familial Hypophosphatemic Rickets [C18.452.750.400.500.500]
- Rickets, Hypophosphatemic [C18.452.750.400.750]
- Familial Hypophosphatemic Rickets [C18.452.750.400.750.500]
- Nutrition Disorders [C18.654]
- Malnutrition [C18.654.521]
- Deficiency Diseases [C18.654.521.500]
- Avitaminosis [C18.654.521.500.133]
- Vitamin D Deficiency [C18.654.521.500.133.770]
- Rickets [C18.654.521.500.133.770.734]
- Rickets, Hypophosphatemic [C18.654.521.500.133.770.734.875]
- Familial Hypophosphatemic Rickets [C18.654.521.500.133.770.734.875.500]
Below are MeSH descriptors whose meaning is more specific than "Familial Hypophosphatemic Rickets".
This graph shows the total number of publications written about "Familial Hypophosphatemic Rickets" by people in this website by year, and whether "Familial Hypophosphatemic Rickets" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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2007 | 1 | 0 | 1 |
2013 | 0 | 1 | 1 |
2015 | 1 | 0 | 1 |
2018 | 1 | 0 | 1 |
2021 | 1 | 0 | 1 |
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click here.
Below are the most recent publications written about "Familial Hypophosphatemic Rickets" by people in Profiles.
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Conductive Hearing Loss in the Hyp Mouse Model of X-Linked Hypophosphatemia Is Accompanied by Hypomineralization of the Auditory Ossicles. J Bone Miner Res. 2021 12; 36(12):2317-2328.
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An 8-year-old with genu valgum: Answers. Pediatr Nephrol. 2019 04; 34(4):621-624.
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Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemia. J Transl Med. 2015 Jun 04; 13:179.
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Vitamin D: effects on childhood health and disease. Nat Rev Endocrinol. 2013 Mar; 9(3):162-70.
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X-linked hypophosphatemic rickets associated with respiratory failure. Clin Pediatr (Phila). 2008 Apr; 47(3):293-5.