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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: MIM:615018


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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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31367682 NCBI chr10:80,801,594...80,828,005
Ensembl chr10:80,802,941...80,857,700 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11271
      Sd(a) POLYAGGLUTINATION SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      Hemic and Lymphatic Diseases 4331
        hematopoietic system disease 3821
          polyagglutination 4
            Sd(a) POLYAGGLUTINATION SYNDROME 1
paths to the root