Diseases

Familial Hypophosphatemic Rickets

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

MeSH Record

Classification

Broader headings

Related Concepts

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MeSH Record

Synonyms

30 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 With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol
  • Vitamin D-Resistant Rickets, Hereditary
  • Generalized Resistance To 1,25 Dihydroxyvitamin D
  • Hereditary Vitamin D Resistant Rickets
  • Hypocalcemic Vitamin D Resistant Rickets
  • Hypophosphatemic Rickets, Familial
  • Hypophosphatemic Rickets, Hereditary
  • Rickets, Familial Hypophosphatemic
  • Rickets, Hereditary Hypophosphatemic
  • Rickets, Hereditary Vitamin D Resistant
  • Vitamin D Resistant Rickets With End Organ Unresponsiveness To 1,25 Dihydroxycholecalciferol
  • Vitamin D Resistant Rickets, Hereditary
  • Hypophosphatemia, X-Linked
  • Hypophosphatemic Rickets, X-Linked Dominant
  • Hypophosphatemic Rickets, X-Linked Recessive
  • Rickets, X-Linked Hypophosphatemic
  • Vitamin D-Resistant Rickets, X-Linked
  • X-Linked Hypophosphatemia
  • Hypophosphatemia, X Linked
  • Hypophosphatemic Rickets, X Linked Dominant
  • Hypophosphatemic Rickets, X Linked Recessive
  • Hypophosphatemic Rickets, X-Linked
  • Vitamin D Resistant Rickets, X Linked
  • X Linked Hypophosphatemia
  • X-Linked Hypophosphatemic Rickets

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

Indexing Annotation

coordinate with GENETIC DISEASES, X-LINKED if X-linked variant is discussed

MeSH Record

History Note

2014 (2007); use HYPOPHOSPHATEMIA, FAMILIAL 1994-2006, use RICKETS, VITAMIN D-RESISTANT 1972-1993

MeSH Record

Previous Indexing

  • Hypophosphatemia, Familial (1965-2006)
  • Rickets (1965-2006)
  • Vitamin D (1965-2006)

MeSH Hierarchy

Tree Numbers

  1. C05w.116w.198w.816w.875.500w
  2. C12.050.351.968w.419w.815w.647.500w
  3. C12.200.777w.419w.815w.647.500w
  4. C12.950w.419w.815w.647.500w
  5. C16w.320w.565w.618w.544.500w
  6. C16w.320w.831w.647.500w
  7. C18.452w.104w.816w.875.500w
  8. C18.452w.174w.845w.875.500w
  9. C18.452w.648w.618w.544.500w
  10. C18.452w.750.400w.500.500w
  11. C18.452w.750.400w.750.500w
  12. C18.654w.521w.500.133w.770w.734w.875.500w

AMA Style

References

  1. National Library of Medicine. Familial Hypophosphatemic Rickets. Medical Subject Headings (MeSH). 2026. Unique ID D053098. http://id.nlm.nih.gov/mesh/2026/D053098
  2. Familial Hypophosphatemic Rickets. In: Wikipedia. https://en.wikipedia.org/wiki/X-linked_hypophosphatemia
  3. Familial Hypophosphatemic Rickets. In: Wikidata. https://www.wikidata.org/wiki/Q1779987