FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term familial renal glucosuria ID (Ontology) DOID:0070613 (Human Disease)
Definition A renal glycosuria that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the SLC5A2 gene on chromosome 16p11.2.
Also Known As "familial renal glycosuria" ; "FRG" ; "hereditary renal glycosuria" (for all, see Synonyms field below)
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 Genes
 familial renal glucosuria       4
 for disease ribbon | familial renal glucosuria       4
 model of | familial renal glucosuria       4
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease___
 |__autosomal recessive disease__|
renal tubular transport disease  |
 |__renal glycosuria_____________|
                                 familial renal glucosuria  4 rec.
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Is a autosomal dominant disease
autosomal recessive disease
renal glycosuria
Part of
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Synonyms
  • "familial renal glycosuria" EXACT
    "FRG" EXACT OMO:0003012
    "hereditary renal glycosuria" EXACT
    "SGLT2 deficiency" EXACT
Secondary IDs
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GARD:7548
MESH:D006030
MIM:233100
ORDO:69076
SNOMEDCT_US_2023_03_01:226309007
UMLS_CUI:C3245525