| Metadata | |
|---|---|
| ID | DOID:0070613 |
| Name | familial renal glucosuria |
| Definition | A renal glycosuria that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the SLC5A2 gene on chromosome 16p11.2. https://pubmed.ncbi.nlm.nih.gov/19965550/, https://pubmed.ncbi.nlm.nih.gov/30942416/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:226309007 |
| SKOS |
exactMatch GARD:7548 exactMatch MESH:D006030 exactMatch MIM:233100 exactMatch ORDO:69076 exactMatch SNOMEDCT_US_2023_03_01:226309007 exactMatch UMLS_CUI:C3245525 |
| Subsets |
DO_rare_slim |
| Synonyms |
familial renal glycosuria [EXACT] FRG [EXACT] hereditary renal glycosuria [EXACT] SGLT2 deficiency [EXACT] |
| Parent Relationships |
is_a renal glycosuria |