hypophosphatemia

Summary
Definition
A phosphorus metabolism disease that is characterized by hypophosphatemia and the symptoms of osteomalacia including bone pain, skeletal deformities and osteoarthritis.
Super Class
phosphorus metabolism disease
External Links
Disease Ontology
DOID:0050336
Mondo Disease Ontology
MeSH
Related Genes
Displaying entries 1 - 10 of 12 in total
Gene ID Gene Symbol Description Source
229 ALDOB aldolase, fructose-bisphosphate B
1497 CTNS cystinosin, lysosomal cystine transporter
1594 CYP27B1 cytochrome P450 family 27 subfamily B member 1
4952 OCRL OCRL inositol polyphosphate-5-phosphatase
5167 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
6514 SLC2A2 solute carrier family 2 member 2
8802 SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha
9365 KL klotho
10005 ACOT8 acyl-CoA thioesterase 8
10135 NAMPT nicotinamide phosphoribosyltransferase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024