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DO Term : X-linked nephrolithiasis type I [DOID:0111798] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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 the CLCN5 gene on chromosome Xp11.23.

synonyms:
310468,
nephrolithiasis X-linked recessive type 1,
NPHL1,
X-linked nephrolithiasis with renal failure,
X-linked recessive urolithiasis type 1,
OMIM:310468,
XRN,
nephrolithiasis 1

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

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