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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

GARD:7548

MESH:D006030

MIM:233100

ORDO:69076

SNOMEDCT_US_2023_03_01:226309007

UMLS_CUI:C3245525

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

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

has material basis in some autosomal recessive inheritance

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