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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
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Accession:DOID:9001022 term browser browse the term
Definition:An autosomal recessive multisystemic disorder apparent from birth. Affected infants have poor growth, failure to thrive, hypotonia, skeletal anomalies, and delayed psychomotor development with intellectual disability.
Synonyms:exact_synonym: CDGF
 xref: OMIM:PS618005


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Congenital Disorder of Glycosylation with Defective Fucosylation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FCSK fucose kinase IAGP ClinVar Annotator: match by term: Congenital disorder of glycosylation with defective fucosylation ClinVar PMID:28492532 NCBI chr16:70,454,595...70,480,274
Ensembl chr16:70,454,595...70,480,274 		JBrowse link
Congenital Disorder of Glycosylation with Defective Fucosylation 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FUT8 fucosyltransferase 8 IAGP ClinVar Annotator: match by term: Congenital disorder of glycosylation with defective fucosylation 1 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29304374 NCBI chr14:65,356,842...65,744,121
Ensembl chr14:65,410,592...65,744,121 		JBrowse link
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 IAGP ClinVar Annotator: match by term: FCSK-related condition
ClinVar Annotator: match by term: Congenital disorder of glycosylation with defective fucosylation 2		 OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28492532 PMID:30503518 NCBI chr16:70,454,595...70,480,274
Ensembl chr16:70,454,595...70,480,274 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    physical disorder 7135
      congenital disorder of glycosylation 719
        Congenital Disorder of Glycosylation with Defective Fucosylation 2
          Congenital Disorder of Glycosylation with Defective Fucosylation 1 1
          Congenital Disorder of Glycosylation with Defective Fucosylation 2 1
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          inherited metabolic disorder 7854
            carbohydrate metabolic disorder 3610
              congenital disorder of glycosylation 719
                Congenital Disorder of Glycosylation with Defective Fucosylation 2
                  Congenital Disorder of Glycosylation with Defective Fucosylation 1 1
                  Congenital Disorder of Glycosylation with Defective Fucosylation 2 1
paths to the root