Search Ontology:
Human Disease
familial renal glucosuria
- Term ID
- DOID:0070613
- Synonyms
-
- familial renal glycosuria
- FRG
- hereditary renal glycosuria
- SGLT2 deficiency
- Definition
- A renal glycosuria that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the SLC5A2 gene on chromosome 16p11.2. (2)
- References
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- GARD:7548
- MESH:D006030
- MIM:233100
- ORDO:69076
- SNOMEDCT_US_2023_03_01:226309007
- UMLS_CUI:C3245525
- Ontology
- Human Disease ( DOID:0070613 )
- is a type of
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Genes Involved
Zebrafish Models