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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:polyagglutination
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Accession:DOID:9005170 term browser browse the term
Definition:This is a hematopoietic system disease condition that is characterized by red blood cells that agglutinate upon exposure to almost all samples of human sera from adults but not by autologous serum or sera of newborns.


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NOR POLYAGGLUTINATION SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A4galt alpha 1,4-galactosyltransferase ISO ClinVar Annotator: match by term: A4GALT-related condition | ClinVar Annotator: match by term: NOR polyagglutination syndrome OMIM
ClinVar		 PMID:7072192 PMID:9920164 PMID:22965229 PMID:25741868 PMID:28492532 NCBI chr 7:114,368,525...114,392,872
Ensembl chr 7:114,368,276...114,396,071 		JBrowse link
G B3galnt1 beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) ISO OMIM NCBI chr 2:153,847,297...153,877,371
Ensembl chr 2:153,846,474...153,877,332 		JBrowse link
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
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GALACTOSYLTRANSFERASE DEFICIENCY		 OMIM
CTD
ClinVar		 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 19137
    disease of anatomical entity 18450
      hematopoietic system disease 3835
        polyagglutination 4
          NOR POLYAGGLUTINATION SYNDROME 2
          Sd(a) POLYAGGLUTINATION SYNDROME 1
          Tn polyagglutination syndrome 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      Hemic and Lymphatic Diseases 4344
        hematopoietic system disease 3835
          polyagglutination 4
            NOR POLYAGGLUTINATION SYNDROME 2
            Sd(a) POLYAGGLUTINATION SYNDROME 1
            Tn polyagglutination syndrome 1
paths to the root