essential fructosuria - Ontology Report

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:	essential fructosuria	go back to main search page
Accession:	DOID:0111680	browse the term
Definition:	A carbohydrate metabolic disorder characterized by elevated fructose levels in the blood and urine following ingestion of fructose and related sugars that has_material_basis_in homozygous or compound heterozygous mutation in KHK on chromosome 2p23.3. (DO)
Synonyms:	exact_synonym:	Essential benign fructosuria; Fructosuria; Hepatic fructokinase deficiency; Ketohexokinase deficiency; fructokinase deficiency
	primary_id:	MESH:C538068
	alt_id:	DOID:9001168; OMIM:229800
	xref:	ICD10CM:E74.11; ORDO:2056

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Genes (2)

essential fructosuria

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Cgref1

cell growth regulator with EF hand domain 1

ISO

ClinVar Annotator: match by term: Essential fructosuria | ClinVar Annotator: match by term: KETOHEXOKINASE DEFICIENCY

ClinVar

PMID:25741868 PMID:28492532

NCBI chr 6:25,431,846...25,443,853
Ensembl chr 6:25,431,799...25,443,852

Khk

ketohexokinase

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Essential fructosuria | ClinVar Annotator: match by term: KETOHEXOKINASE DEFICIENCY

OMIM
CTD
ClinVar
RGD

PMID:7833921 PMID:9799106 PMID:18035330 PMID:19237742 PMID:25741868 More...

RGD:13782360

NCBI chr 6:25,445,298...25,455,834
Ensembl chr 6:25,445,300...25,455,717

Term paths to the root

Path 1
Term	Annotations
disease	21128
Nutritional and Metabolic Diseases	8237
disease of metabolism	8237
inherited metabolic disorder	6214
carbohydrate metabolic disorder	3267
Fructose Metabolism, Inborn Errors	13
essential fructosuria	2
Path 2
Term	Annotations
disease	21128
Developmental Disease	18449
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	18309
genetic disease	18253
monogenic disease	10363
autosomal genetic disease	9517
autosomal recessive disease	6583
essential fructosuria	2

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RGD DISEASE ONTOLOGY - ANNOTATIONS