X-Linked Nephrolithiasis Type I
Disease ID: disease_node_19157
Connections displayed (default: 10).
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| Dbxref | MIM:310468 |
|---|---|
| Subclassof | DOID_0080012, DOID_447 |
| Data Source | DOID |
| Synonyms | NPHL1, X-linked nephrolithiasis with renal failure, X-linked recessive urolithiasis type 1, XRN, nephrolithiasis 1, nephrolithiasis X-linked recessive type 1 |
| Doid Label | X-linked nephrolithiasis type I |
| Doid 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. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_19157 |
| Doid Id | DOID_0111798 |
| Label | X-Linked Nephrolithiasis Type I |
- Outgoing r'ship
SUBCLASS_OFto/from Renal Tubular Transport, Inborn Errors(ID:disease_node_8336) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease)