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


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 20988
    Nutritional and Metabolic Diseases 8324
      disease of metabolism 8324
        inherited metabolic disorder 6274
          FUCOSYLTRANSFERASE 6 DEFICIENCY 2
Path 2
Term Annotations click to browse term
  disease 20988
    Developmental Disease 18234
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18064
        genetic disease 17984
          inherited metabolic disorder 6274
            FUCOSYLTRANSFERASE 6 DEFICIENCY 2
paths to the root