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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:essential fructosuria
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Accession:DOID:0111680 term browser 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
For additional species annotation, visit the Alliance of Genome Resources.


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essential fructosuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cgref1 cell growth regulator with EF hand domain 1 ISO ClinVar Annotator: match by term: Fructosuria, essential ClinVar PMID:28492532 NCBI chr 6:26,797,126...26,809,132
Ensembl chr 6:26,797,126...26,809,129
JBrowse link
G Khk ketohexokinase ISO ClinVar Annotator: match by term: Fructosuria, essential
ClinVar Annotator: match by OMIM:229800
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7833921 PMID:9799106 PMID:18035330 PMID:19237742 PMID:28492532, PMID:29870677 RGD:13782360 NCBI chr 6:26,810,577...26,821,013
Ensembl chr 6:26,810,579...26,820,959
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Nutritional and Metabolic Diseases 4712
      disease of metabolism 4712
        inherited metabolic disorder 2234
          carbohydrate metabolic disorder 399
            Fructose Metabolism, Inborn Errors 6
              essential fructosuria 2
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            autosomal genetic disease 4875
              autosomal recessive disease 2668
                essential fructosuria 2
paths to the root