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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 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation with defective fucosylation ClinVar PMID:28492532 NCBI chr 5:53,606,693...53,634,749
Ensembl chr 5:53,615,958...53,637,550
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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 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation with defective fucosylation 1 OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 PMID:29304374 NCBI chr24:42,627,340...42,965,505
Ensembl chr24:42,788,132...42,968,124
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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 NCBI chr 5:53,606,693...53,634,749
Ensembl chr 5:53,615,958...53,637,550
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17472
    physical disorder 4815
      congenital disorder of glycosylation 531
        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 17472
    Developmental Disease 17376
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17311
        genetic disease 17297
          inherited metabolic disorder 5442
            carbohydrate metabolic disorder 2657
              congenital disorder of glycosylation 531
                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