.
immunodeficiency 87 - Ontology Report - Rat Genome Database

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 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
Advanced Search (OLGA)

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:immunodeficiency 87
go back to main search page
Accession:DOID:0061057 term browser browse the term
Definition:A primary immunodeficiency disease that is characterized by a wide phenotypic variation and severity and that has_material_basis_in homozygous mutation in the DEF6 gene on chromosome 6p21. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus, as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. (DO)
Synonyms:exact_synonym: IMD87;   immunodeficiency 87 and autoimmunity
 broad_synonym: DEF6-related condition
 alt_id: DOID:9002508
 xref: MIM:619573;   MONDO:0030457

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
immunodeficiency 87 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DEF6 DEF6 guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: DEF6-related condition | ClinVar Annotator: match by term: Immunodeficiency 87 and autoimmunity OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31308374 PMID:32562707 NCBI chr17:36,799,402...36,826,731
Ensembl chr17:36,799,370...36,826,405 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15412
    disease of anatomical entity 15076
      immune system disease 4600
        autoimmune disease 2038
          immunodeficiency 87 1
Path 2
Term Annotations click to browse term
  disease 15412
    Developmental Disease 13505
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12665
        genetic disease 12366
          monogenic disease 10601
            autosomal genetic disease 10157
              autosomal recessive disease 6968
                immunodeficiency 87 1
paths to the root