Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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


show annotations for term's descendants           Sort by:
Tn polyagglutination syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1GALT1C1 C1GALT1 specific chaperone 1 IAGP
EXP		 ClinVar Annotator: match by term: GALACTOSYLTRANSFERASE DEFICIENCY
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:16251947 PMID:18537974 PMID:25741868 PMID:28492532 NCBI chr  X:120,625,674...120,630,054
Ensembl chr  X:120,625,674...120,630,054 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18073
      Tn polyagglutination syndrome 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      Hemic and Lymphatic Diseases 5702
        hematopoietic system disease 4987
          polyagglutination 4
            Tn polyagglutination syndrome 1
paths to the root