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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:type II complement component 8 deficiency
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Accession:DOID:0060302 term browser browse the term
Definition:A complement deficiency that is characterized by deficiency of the beta 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 C8B gene, which produces the beta subunit of complement component 8 important in forming membrane attack complexes. (DO)
Synonyms:exact_synonym: C8 BETA DEFICIENCY;   C8 deficiency type II;   C8B DEFICIENCY;   C8D2;   COMPLEMENT COMPONENT 8B DEFICIENCY
 primary_id: OMIM:613789
For additional species annotation, visit the Alliance of Genome Resources.



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type II complement component 8 deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C8b complement C8 beta chain ISO ClinVar Annotator: match by term: Type II complement component 8 deficiency OMIM
ClinVar
PMID:7594510 PMID:8098723 PMID:8365729 PMID:14767900 PMID:19434484 More... NCBI chr 5:119,535,009...119,572,565
Ensembl chr 5:119,535,146...119,572,565
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    syndrome 9686
      primary immunodeficiency disease 3831
        complement deficiency 31
          type II complement component 8 deficiency 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      Immune & Inflammatory Diseases 5178
        immune system disease 4487
          allergic disease 599
            hypersensitivity reaction type III disease 27
              type II complement component 8 deficiency 1
paths to the root