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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;   OMIM:300622;   RDO:0012310
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:300622
ClinVar Annotator: match by term: GALACTOSYLTRANSFERASE DEFICIENCY
OMIM
ClinVar
PMID:16251947, PMID:18537974, PMID:25741868, PMID:28492532 NCBI chr  X:124,921,686...124,926,171
Ensembl chr  X:124,921,728...124,926,171
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Tn polyagglutination syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Immune & Inflammatory Diseases 3506
        immune system disease 2926
          primary immunodeficiency disease 2346
            autoimmune disease 1666
              Tn polyagglutination syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.