FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term X-linked nephrolithiasis type I ID (Ontology) DOID:0111798 (Human Disease)
Definition 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.
Also Known As "nephrolithiasis 1" ; "nephrolithiasis X-linked recessive type 1" ; "NPHL1" (for all, see Synonyms field below)
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 X-linked nephrolithiasis type I       1
 for disease ribbon | X-linked nephrolithiasis type I       1
 model of | X-linked nephrolithiasis type I       1
Spanning Tree (Parents/Children)
Only view relationship: 
X-linked monogenic disease
 |__X-linked recessive disease_______
kidney disease                       |
 |__renal tubular transport disease__|
                                     X-linked nephrolithiasis type I  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a X-linked recessive disease
renal tubular transport disease
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "nephrolithiasis 1" EXACT
    "nephrolithiasis X-linked recessive type 1" EXACT
    "NPHL1" EXACT OMO:0003012
    "X-linked nephrolithiasis with renal failure" EXACT
    "X-linked recessive urolithiasis type 1" EXACT
    "XRN" EXACT OMO:0003012
Secondary IDs
hide External Crossreferences & Linkouts
MIM:310468