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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:FUCOSYLTRANSFERASE 6 DEFICIENCY
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Accession:DOID:9003153 term browser browse the term
Synonyms:primary_id: OMIM:613852;   RDO:9001362



show annotations for term's descendants           Sort by:
FUCOSYLTRANSFERASE 6 DEFICIENCY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fut2 fucosyltransferase 2 ISO ClinVar Annotator: match by term: Fucosyltransferase 6 deficiency ClinVar PMID:25741868 PMID:30401457 NCBI chr 1:96,119,549...96,139,567
Ensembl chr 1:96,119,371...96,140,360
JBrowse link
G Fut4-ps1 fucosyltransferase 4, pseudogene 1 ISO ClinVar Annotator: match by term: Fucosyltransferase 6 deficiency OMIM
ClinVar
PMID:8175676 PMID:25741868 NCBI chr 9:1,569,605...1,572,022 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8235
      disease of metabolism 8235
        inherited metabolic disorder 6212
          FUCOSYLTRANSFERASE 6 DEFICIENCY 2
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          inherited metabolic disorder 6212
            FUCOSYLTRANSFERASE 6 DEFICIENCY 2
paths to the root