OBO ID: DOID:0050450
Term Name: Gitelman syndrome Search Ontology:
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)
OTHER Gitelman syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC12A3 Gitelman syndrome 263800
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None