familial renal glucosuria - Ontology Report

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	familial renal glucosuria	go back to main search page
Accession:	DOID:0070613	browse the term
Definition:	A renal glycosuria that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the SLC5A2 gene on chromosome 16p11.2. (DO)
Synonyms:	exact_synonym:	FRG; SGLT2 deficiency; SLC5A2-RELATED CONDITION; familial renal glycosuria; hereditary renal glycosuria
	xref:	GARD:7548; MIM:233100; MONDO:0009297; ORDO:69076

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Genes (2)

familial renal glucosuria

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Rusf1

RUS family member 1

ISO

ClinVar Annotator: match by term: Familial renal glucosuria | ClinVar Annotator: match by term: SLC5A2-related condition

ClinVar

PMID:14569097 PMID:14614622 PMID:15110322 PMID:18622023 PMID:25741868 More...

NCBI chr 1:182,852,257...182,881,652
Ensembl chr 1:182,852,262...182,880,732

Slc5a2

solute carrier family 5 member 2

ISO

ClinVar Annotator: match by term: Familial renal glucosuria | ClinVar Annotator: match by term: Familial renal glycosuria | ClinVar Annotator: match by term: SLC5A2-related condition

ClinVar
OMIM

PMID:12436245 PMID:14569097 PMID:14614622 PMID:15110322 PMID:18622023 More...

NCBI chr 1:182,847,185...182,853,309
Ensembl chr 1:182,847,106...182,853,306

Term paths to the root

Path 1
Term	Annotations
disease	19100
Nutritional and Metabolic Diseases	8520
disease of metabolism	8520
inherited metabolic disorder	6605
renal tubular transport disease	110
renal glycosuria	4
familial renal glucosuria	2
Path 2
Term	Annotations
disease	19100
Developmental Disease	14598
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	13613
genetic disease	13275
inherited metabolic disorder	6605
carbohydrate metabolic disorder	3410
glucose metabolism disease	2157
Glycosuria	6
renal glycosuria	4
familial renal glucosuria	2

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RGD DISEASE ONTOLOGY - ANNOTATIONS