About: X-linked nephrolithiasis type I

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

Attributes	Values
type	Class
subClassOf	X-linked recessive disease renal tubular transport disease nodeID://b50945493
label	X-linked nephrolithiasis type I
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111798
database_cross_reference	OMIM:310468
has_exact_synonym	NPHL1 X-linked nephrolithiasis with renal failure X-linked recessive urolithiasis type 1 XRN nephrolithiasis 1 nephrolithiasis X-linked recessive type 1
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in CLCN5 on chromosome Xp11.23.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945494

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