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Metadata
ID DOID:0050450
Name Gitelman syndrome
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
Xrefs

GARD:8547

MESH:D053579

NCI:C84730

OMIM:263800

SNOMEDCT_US_2023_03_01:3188003

UMLS_CUI:C0268450

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA [EXACT]

Parent Relationships

is_a renal tubular transport disease

is_a autosomal recessive disease

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