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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:Congenital Disorder of Glycosylation with Defective Fucosylation 2
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Accession:DOID:9001746 term browser browse the term
Synonyms:exact_synonym: CDGF2;   FCSK-RELATED CONDITION
 primary_id: MIM:618324


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Congenital Disorder of Glycosylation with Defective Fucosylation 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcsk fucose kinase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation with defective fucosylation 2 | ClinVar Annotator: match by term: FCSK-related condition OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28492532 PMID:30503518 PMID:34802815 NCBI chr19:55,743,746...55,783,873
Ensembl chr19:55,739,842...55,800,496 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19149
    physical disorder 5208
      congenital disorder of glycosylation 584
        Congenital Disorder of Glycosylation with Defective Fucosylation 2
          Congenital Disorder of Glycosylation with Defective Fucosylation 2 1
Path 2
Term Annotations click to browse term
  disease 19149
    Developmental Disease 14693
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13755
        genetic disease 13435
          inherited metabolic disorder 6647
            carbohydrate metabolic disorder 3433
              congenital disorder of glycosylation 584
                Congenital Disorder of Glycosylation with Defective Fucosylation 2
                  Congenital Disorder of Glycosylation with Defective Fucosylation 2 1
paths to the root