About: Gitelman syndrome

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	autosomal recessive disease renal tubular transport disease nodeID://b50936851
label	Gitelman syndrome
comment	OMIM mapping confirmed by DO. [SN].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0050450
database_cross_reference	GARD:8547 MESH:D053579 NCI:C84730 OMIM:263800 SNOMEDCT_US_2021_09_01:3188003 UMLS_CUI:C0268450
has_exact_synonym	HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA (en)
has_obo_namespace	disease_ontology
in_subset	NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	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).
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50936852

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