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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:complement component 6 deficiency
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Accession:DOID:0060299 term browser browse the term
Definition:A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C6 gene. (DO)
Synonyms:exact_synonym: C6 Deficiency;   C6D
 narrow_synonym: C6 deficiency, subtotal;   complement component 6 deficiency, subtotal
 primary_id: MESH:C567307
 alt_id: OMIM:612446


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complement component 6 deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C6 complement component 6 ISO ClinVar Annotator: match by term: Complement component 6 deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7535801 PMID:8512929 PMID:8690922 PMID:8871666 PMID:9472666 More... NCBI chr15:4,756,550...4,833,527
Ensembl chr15:4,756,657...4,844,449 		JBrowse link
G C8b complement component 8, beta polypeptide ISO ClinVar Annotator: match by term: Complement component 6 deficiency ClinVar PMID:7594510 PMID:8098723 PMID:8365729 PMID:14767900 PMID:19434484 More... NCBI chr 4:104,623,514...104,661,745
Ensembl chr 4:104,623,514...104,661,745 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    syndrome 10338
      primary immunodeficiency disease 3856
        complement deficiency 51
          complement component 6 deficiency 2
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      Immune & Inflammatory Diseases 5172
        immune system disease 4464
          primary immunodeficiency disease 3856
            complement deficiency 51
              complement component 6 deficiency 2
paths to the root