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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 NCBI chr19:38,849,130...38,874,497
Ensembl chr19:38,854,762...38,874,418
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 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 chr 6:95,948,230...96,176,677
Ensembl chr 6:95,949,991...96,176,677
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 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation with defective fucosylation 2 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:30503518 NCBI chr19:38,849,130...38,874,497
Ensembl chr19:38,854,762...38,874,418
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18162
    physical disorder 4194
      congenital disorder of glycosylation 301
        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 18162
    Developmental Disease 12942
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11671
        genetic disease 11175
          inherited metabolic disorder 4675
            carbohydrate metabolic disorder 2566
              congenital disorder of glycosylation 301
                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