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nephrolithiasis, X-linked recessive, with renal failure
Disease Summary
Associated Targets (1)
Tbio
1
Uniprot Description An X-linked recessive renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. Nephrolithiasis type 1 presents with hypercalciuria, nephrocalcinosis, renal stones and renal insufficiency. Patients lack urinary acidification defects, rickets, and osteomalacia.
Mondo Term and Equivalent IDs
MONDO:0010687: nephrolithiasis, X-linked recessive, with renal failure
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MESH:C562901
OMIM:310468
SCTID:236713006
MONDO:0010687
High level summary of knowledge for a disease, including descriptions and datasource references.