OBO ID: DOID:0111798
Term Name: X-linked nephrolithiasis type I Search Ontology:
Synonyms:
  • nephrolithiasis 1
  • nephrolithiasis X-linked recessive type 1
  • NPHL1
  • X-linked nephrolithiasis with renal failure
  • X-linked recessive urolithiasis type 1
  • XRN
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. (2)
References:
Ontology: Human Disease   ( DOID:0111798 )
OTHER X-linked nephrolithiasis type I PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CLCN5 Nephrolithiasis, type I 310468
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None