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:C1q Deficiency 2
go back to main search page
Accession:DOID:9006341 term browser browse the term
Definition:A C1q deficiency caused by homozygous mutation in the C1QB gene on chromosome 1p36.
Synonyms:exact_synonym: C1QD2
 primary_id: MIM:620321

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
C1q Deficiency 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1QB complement C1q B chain ISO ClinVar Annotator: match by term: C1Q deficiency 2 OMIM
ClinVar		 PMID:2894352 PMID:24160257 PMID:25741868 NCBI chr20:110,003,036...110,011,317
Ensembl chr20:110,002,864...110,011,316 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15392
    syndrome 10371
      primary immunodeficiency disease 3989
        C1q Deficiency 3
          C1q Deficiency 2 1
Path 2
Term Annotations click to browse term
  disease 15392
    disease of anatomical entity 15077
      Immune & Inflammatory Diseases 5134
        immune system disease 4570
          primary immunodeficiency disease 3989
            autoimmune disease 2026
              autoimmune disease of musculoskeletal system 890
                lupus erythematosus 203
                  systemic lupus erythematosus 197
                    C1q Deficiency 3
                      C1q Deficiency 2 1
paths to the root