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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 I complement component 8 deficiency
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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
For additional species annotation, visit the Alliance of Genome Resources.



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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: COMPLEMENT COMPONENT 8, ALPHA SUBUNIT, A/B POLYMORPHISM | ClinVar Annotator: match by term: Type I complement component 8 deficiency OMIM
ClinVar
PMID:7649542 PMID:9759902 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:155,464,855...155,530,473
Ensembl chr 6:155,464,852...155,530,472
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14411
    syndrome 8672
      primary immunodeficiency disease 3343
        complement deficiency 33
          type I complement component 8 deficiency 1
Path 2
Term Annotations click to browse term
  disease 14411
    disease of anatomical entity 14133
      Immune & Inflammatory Diseases 4505
        immune system disease 3942
          allergic disease 554
            hypersensitivity reaction type III disease 25
              type I complement component 8 deficiency 1
paths to the root