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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:Tn polyagglutination syndrome
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Accession:DOID:0080520 term browser browse the term
Definition:A hematopoietic system disease that is characterized by red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns and has_material_basis_in somatic mutation in the C1GALT1C1 gene on chromosome Xq24. (DO)
Synonyms:exact_synonym: Galactosyltransferase Deficiency;   TNPS;   Tn Syndrome
 primary_id: MESH:C562719
 alt_id: DOID:9000181;   MIM:300622


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Tn polyagglutination syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1galt1c1 C1GALT1-specific chaperone 1 ISO ClinVar Annotator: match by term: GALACTOSYLTRANSFERASE DEFICIENCY
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16251947 PMID:18537974 PMID:25741868 PMID:28492532 NCBI chr  X:117,378,123...117,382,620
Ensembl chr  X:117,375,525...117,382,787 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    syndrome 11171
      Tn polyagglutination syndrome 1
Path 2
Term Annotations click to browse term
  disease 19065
    disease of anatomical entity 18355
      Hemic and Lymphatic Diseases 4037
        hematopoietic system disease 3526
          polyagglutination 4
            Tn polyagglutination syndrome 1
paths to the root