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:type I complement component 8 deficiency
go back to main search page
Accession:DOID:0060301 term browser browse the term
Definition:A complement deficiency that is characterized by deficiency of the alpha subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8A gene, which produces the alpha subunit of complement component 8 important in forming membrane attack complexes. (DO)
Synonyms:exact_synonym: C8 ALPHA-GAMMA DEFICIENCY;   C8 deficiency type I;   C8AG DEFICIENCY;   C8D1
 related_synonym: complement component 8, alpha subunit, A/B polymorphism
 primary_id: OMIM:613790

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
type I complement component 8 deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C8a complement C8 alpha chain ISO ClinVar Annotator: match by term: Type I complement component 8 deficiency OMIM
ClinVar		 PMID:975502 PMID:7649542 PMID:9759902 PMID:24033266 PMID:25741868 More... NCBI chrNW_004936522:4,686,306...4,745,175
Ensembl chrNW_004936522:4,686,081...4,745,175 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9491
      primary immunodeficiency disease 3540
        complement deficiency 43
          type I complement component 8 deficiency 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      Immune & Inflammatory Diseases 4721
        immune system disease 4107
          allergic disease 546
            hypersensitivity reaction type III disease 24
              type I complement component 8 deficiency 1
paths to the root