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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:Sd(a) POLYAGGLUTINATION SYNDROME
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Accession:DOID:9001500 term browser browse the term
Definition:This condition is a result of a patient with low Sid antigen (Sd(a+) strength being transfused with blood of high Sid antigen strength (Sd(a++). Most people have weak anti-Sd(a) antibodies in their serum, which is usually of no clinical importance, but red cell agglutination and a transfusion reaction can occur if the donor blood has cells showing strong Sd(a++) expression.
Synonyms:exact_synonym: SDPS;   Sd(a-) PHENOTYPE
 related_synonym: BLOOD GROUP, SID SYSTEM
 primary_id: OMIM:615018
For additional species annotation, visit the Alliance of Genome Resources.



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Sd(a) POLYAGGLUTINATION SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4galnt2 beta-1,4-N-acetyl-galactosaminyl transferase 2 ISO ClinVar Annotator: match by term: BLOOD GROUP, SID SYSTEM ClinVar
OMIM
PMID:28492532 PMID:31367682 NCBI chr10:80,801,594...80,828,005
Ensembl chr10:80,802,941...80,857,700
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    syndrome 9634
      Sd(a) POLYAGGLUTINATION SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      Immune & Inflammatory Diseases 5154
        immune system disease 4479
          Transfusion Reaction 1
            Sd(a) POLYAGGLUTINATION SYNDROME 1
paths to the root