| Metadata | |
|---|---|
| ID | DOID:0111798 |
| Name | X-linked nephrolithiasis type I |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/15558518, https://www.ncbi.nlm.nih.gov/pubmed/8559248 |
| Xrefs | |
| Synonyms |
nephrolithiasis 1 [EXACT] nephrolithiasis X-linked recessive type 1 [EXACT] NPHL1 [EXACT] X-linked nephrolithiasis with renal failure [EXACT] X-linked recessive urolithiasis type 1 [EXACT] XRN [EXACT] |
| Parent Relationships |