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Human Disease

Gitelman syndrome

Term ID
DOID:0050450
Synonyms
  • HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA
Definition
A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting). https://ghr.nlm.nih.gov/condition/gitelman-syndrome
References
Ontology
Human Disease   ( DOID:0050450 )
Relationships
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Genes Involved
Zebrafish Models