Hypophosphatemia, Familial MeSH Descriptor Data 2025

MeSH Heading: Hypophosphatemia, Familial
Tree Number(s): C12.050.351.968.419.815.647; C12.200.777.419.815.647; C12.950.419.815.647; C16.320.565.618.544; C16.320.831.647; C18.452.648.618.544; C18.452.750.400.500
Unique ID: D007015
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D007015
Annotation: a clinical entity: not for decreased blood phosphate levels ( = PHOSPHATES /‌blood)
Scope Note: An inherited condition of abnormally low serum levels of PHOSPHATES (below 1 mg/liter) which can occur in a number of genetic diseases with defective reabsorption of inorganic phosphorus by the PROXIMAL RENAL TUBULES. This leads to phosphaturia, HYPOPHOSPHATEMIA, and disturbances of cellular and organ functions such as those in X-LINKED HYPOPHOSPHATEMIC RICKETS; OSTEOMALACIA; and FANCONI SYNDROME.
Entry Term(s): Diabetes, Phosphate; Familial Hypophosphatemia; Hyperphosphaturia; Phosphate Diabetes; Phosphaturia
Public MeSH Note: 1965
History Note: 1965
Date Established: 1965/01/01
Date of Entry: 1999/01/01
Revision Date: 2021/06/30

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Urogenital Diseases [C12]
- Female Urogenital Diseases and Pregnancy Complications [C12.050]
  - Female Urogenital Diseases [C12.050.351]
    - Urologic Diseases [C12.050.351.968]
      - Kidney Diseases [C12.050.351.968.419]
        
        Renal Tubular Transport, Inborn Errors [C12.050.351.968.419.815]
        
        Acidosis, Renal Tubular [C12.050.351.968.419.815.093]
        
        Bartter Syndrome [C12.050.351.968.419.815.279]
        
        Dent Disease [C12.050.351.968.419.815.364]
        
        Fanconi Syndrome [C12.050.351.968.419.815.450]
        
        Gitelman Syndrome [C12.050.351.968.419.815.491]
        
        Glycosuria, Renal [C12.050.351.968.419.815.532]
        
        Hypophosphatemia, Familial [C12.050.351.968.419.815.647]
        
        Familial Hypophosphatemic Rickets [C12.050.351.968.419.815.647.500]
        
        Liddle Syndrome [C12.050.351.968.419.815.683]
        
        Oculocerebrorenal Syndrome [C12.050.351.968.419.815.720]
        
        Pseudohypoaldosteronism [C12.050.351.968.419.815.770]
        
        Renal Aminoacidurias [C12.050.351.968.419.815.885]

Urogenital Diseases [C12]
- Male Urogenital Diseases [C12.200]
  - Urologic Diseases [C12.200.777]
    - Kidney Diseases [C12.200.777.419]
      - Renal Tubular Transport, Inborn Errors [C12.200.777.419.815]
        
        Acidosis, Renal Tubular [C12.200.777.419.815.093]
        
        Bartter Syndrome [C12.200.777.419.815.279]
        
        Dent Disease [C12.200.777.419.815.364]
        
        Fanconi Syndrome [C12.200.777.419.815.450]
        
        Gitelman Syndrome [C12.200.777.419.815.491]
        
        Glycosuria, Renal [C12.200.777.419.815.532]
        
        Hypophosphatemia, Familial [C12.200.777.419.815.647]
        
        Familial Hypophosphatemic Rickets [C12.200.777.419.815.647.500]
        
        Liddle Syndrome [C12.200.777.419.815.683]
        
        Oculocerebrorenal Syndrome [C12.200.777.419.815.720]
        
        Pseudohypoaldosteronism [C12.200.777.419.815.770]
        
        Renal Aminoacidurias [C12.200.777.419.815.885]

Urogenital Diseases [C12]
- Urologic Diseases [C12.950]
  - Kidney Diseases [C12.950.419]
    - Renal Tubular Transport, Inborn Errors [C12.950.419.815]

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]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Renal Tubular Transport, Inborn Errors [C16.320.831]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Metal Metabolism, Inborn Errors [C18.452.648.618]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - 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]

Hypophosphatemia, Familial Preferred

Phosphaturia Related

Concept UI: M0010918
Terms: Phosphaturia Preferred Term
Term UI T657982
Date11/07/2005
LexicalTag NON
ThesaurusID NLM (2007); Diabetes, Phosphate
Term UI T021025
Date05/19/1981
LexicalTag NON
ThesaurusID UNK (19XX); Phosphate Diabetes
Term UI T021026
Date05/19/1981
LexicalTag NON
ThesaurusID UNK (19XX); Hyperphosphaturia
Term UI T657983
Date11/07/2005
LexicalTag NON
ThesaurusID NLM (2007)

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