ONTOLOGY REPORT - ANNOTATIONS


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;   OMIM:300622;   RDO:0012310
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Tn polyagglutination syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1galt1c1 C1GALT1-specific chaperone 1 JBrowse link X 124,921,686 124,926,171 RGD:7240710
RGD:8554872

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  disease 14920
    syndrome 4714
      Tn polyagglutination syndrome 1
Path 2
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  disease 14920
    disease of anatomical entity 14086
      Immune & Inflammatory Diseases 3003
        immune system disease 2425
          Autoimmune Diseases 1455
            Tn polyagglutination syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.