has material basis in germline mutation in disease has feature SLC5A2 Glycosuria renal tubular transport disease familial renal glucosuria https://github.com/monarch-initiative/mondo/issues/4985 https://rarediseases.info.nih.gov/diseases/7548/renal-glycosuria https://www.malacards.org/card/familial_renal_glucosuria https://www.malacards.org/card/renal_glucosuria renal glycosuria GLYS glycosuria, renal renal glucosuria DOID:9432 Orphanet:69076 UMLS:C3245525 DOID:0070613 familial renal glucosuria MONDO:0009297 OMIM:233100 SGLT2 deficiency GARD:0007548 MEDGEN:757652 SCTID:267430007 Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2). MESH:D006030 icd11.foundation:381783069 ICD9:271.4 Renal Glycosuria Glys1 MedDRA:10038457 NORD:1658 glucose transport disorder obsolete nephropathy secondary to a storage or other metabolic disease inherited kidney disorder