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Fanconi renotubular syndrome 3
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.
Uniprot Description A disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency.
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 Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:615605
UMLS:C3810100
MONDO:0014275
High level summary of knowledge for a disease, including descriptions and datasource references.