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Familial Hypophosphatemia (DOID:9007740)
Annotations: Rat: (13) Mouse: (13) Human: (16) Chinchilla: (13) Bonobo: (14) Dog: (13) Squirrel: (13) Pig: (13)
Parent Terms Term With Siblings Child Terms
acrodermatitis enteropathica  
autosomal dominant hypocalcemia +   
Azotemia, Familial 
Bartter disease +   
Dent disease +   
Donnai-Barrow syndrome  
Familial Hypophosphatemia +   
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.
familial periodic paralysis +   
Familial Renal Hypouricemia due to Tubular Hypersecretion  
Fanconi syndrome +   
Gitelman syndrome  
hemochromatosis +   
hypermanganesemia with dystonia +   
Hyperzincemia and Hypercalprotectinemia 
Hyperzincemia with Functional Zinc Depletion 
Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial  
Hypomagnesemia, Seizures, and Mental Retardation +   
hypophosphatasia +   
Hypophosphatemic Bone Disease 
Hypophosphatemic Nephrolithiasis/Osteoporosis +   
hypophosphatemic nephrolithiasis/osteoporosis 2  
Hypophosphatemic Rickets +   
Hypouricemia, Hypercalcinuria, and Decreased Bone Density 
Idiopathic Copper Toxicosis 
Liddle syndrome +   
Menkes disease +   
molybdenum cofactor deficiency +   
occipital horn syndrome  
oculocerebrorenal syndrome +   
primary hypomagnesemia +   
pseudohypoaldosteronism +   
pseudohypoparathyroidism +   
Renal Aminoacidurias +   
renal glycosuria +   
renal hypomagnesemia 2  
renal hypomagnesemia 4  
renal hypomagnesemia 5 with ocular involvement  
renal hypomagnesemia 6  
Renal Hypouricemia  
Renal Hypouricemia, 2  
renal tubular acidosis +   
Wilson disease +   
Zinc, Elevated Plasma 

Exact Synonyms: Familial Hypophosphatemias ;   Hyperphosphaturia ;   Phosphate Diabetes ;   Phosphaturia
Primary IDs: MESH:D007015
Alternate IDs: RDO:0005866
Definition Sources: MESH:D007015

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.