FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Gitelman syndrome ID (Ontology) DOID:0050450 (Human Disease)
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).
Also Known As "HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA"
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 Genes
 Gitelman syndrome       2
 for disease ribbon | Gitelman syndrome       2
 model of | Gitelman syndrome       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease______
kidney disease                       |
 |__renal tubular transport disease__|
                                     Gitelman syndrome  2 rec.
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Is a autosomal recessive disease
renal tubular transport disease
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Synonyms
  • "HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA" EXACT
Secondary IDs
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GARD:8547
MESH:D053579
MIM:263800
NCI:C84730
SNOMEDCT_US_2023_03_01:3188003
UMLS_CUI:C0268450