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DO Term : Gitelman syndrome [DOID:0050450] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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).
  • synonyms:
  • SNOMEDCT_US_2023_03_01:3188003,
  • NCI:C84730,
  • 263800,
  • UMLS_CUI:C0268450,
  • GARD:8547,
  • OMIM:263800,
  • MESH:D053579,
  • HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents