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Namespace Prefixes

Prefix	IRI
n8	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2	http://purl.obolibrary.org/obo/
wdrs	http://www.w3.org/2007/05/powder-s#
rdfs	http://www.w3.org/2000/01/rdf-schema#
obo	http://www.geneontology.org/formats/oboInOwl#
n6	http://purl.obolibrary.org/obo/doid#
rdf	http://www.w3.org/1999/02/22-rdf-syntax-ns#
owl	http://www.w3.org/2002/07/owl#
xsdh	http://www.w3.org/2001/XMLSchema#

Statements

Subject Item

n2:DOID_0050450

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_0050737 _:vb50936851 n2:DOID_447

rdfs:label

Gitelman syndrome

rdfs:comment

OMIM mapping confirmed by DO. [SN].

wdrs:describedby

n8:doid.owl

obo:id

DOID:0050450

obo:hasDbXref

SNOMEDCT_US_2021_09_01:3188003 MESH:D053579 OMIM:263800 GARD:8547 NCI:C84730 UMLS_CUI:C0268450

obo:hasExactSynonym

HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA

obo:hasOBONamespace

disease_ontology

obo:inSubset

n6:NCIthesaurus

n2: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).

Subject Item

_:vb50936851

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000148

wdrs:describedby

n8:doid.owl