Search Ontology:
Human Disease
X-linked nephrolithiasis type I
- Term ID
- DOID:0111798
- 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 )
- is a type of
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