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/30942416/, https://pubmed.ncbi.nlm.nih.gov/19965550/ |
Xrefs |
SNOMEDCT_US_2023_03_01:226309007 |
SKOS |
exactMatch MESH:D006030 exactMatch ORDO:69076 exactMatch UMLS_CUI:C3245525 exactMatch GARD:7548 exactMatch MIM:233100 exactMatch SNOMEDCT_US_2023_03_01:226309007 |
Subsets |
DO_rare_slim |
Synonyms |
familial renal glycosuria [EXACT] FRG [EXACT] hereditary renal glycosuria [EXACT] SGLT2 deficiency [EXACT] |
Parent Relationships |
is_a autosomal dominant disease is_a renal glycosuria |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance |